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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	[tCw_to_G+tCw_to_T]_per_mut	tCw_to_G+tCw_to_T	BH_Fisher_p-value_tCw	APOBEC_enrich	tCw_to_G_enrich	tCw_to_T_enrich	p-value_GvT_skew	BH_p-value_GvT_skew	APOBEC_MutLoad_MinEstimate	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	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
MYOM3	127294	broad.mit.edu	37	chr1	24397629	24397629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	gcgagctgaagatctccttgTtgttgaagattagatgtagc	12	6	1	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	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.N1044S|MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.2_ENST00000439239.2_RNA	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		Somatic	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.N1043S|MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	p.N1044S			WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	C	24397629	T	C	24397629	3	2	1	1	0	0	0	0	1	0	0	0	10093	1725	60	2	1237	2	MYOM3	1	24397629	Missense_Mutation	SNP	T	TCGA-2A-A8VL-01A-21D-A377-08		24397629	224852992	1	1										
LPPR5	163404	broad.mit.edu	37	chr1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	ccctttgaaattattcaccaCgcacacaacctaaaatttca	2	13	2	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.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	163404					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met		Somatic				LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	WXS	Illumina GAIIx	Phase_I	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	19	98	---	---	---	---	T	99380467	C	T	99380467	3	4	1	1	0	0	0	0	1	0	0	0	8928	536	19	2	165	2	LPPR5	1	99380467	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	74982838	99380467	149870154	2	2										
CD1C	911	broad.mit.edu	37	chr1	158262073	158262073	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	tatgaaggcgtcacagaaacAgtgtataatctcataagaag	9	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.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			Somatic					p.T176T	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	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	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	3	3										
LBH	81606	broad.mit.edu	37	chr2	30480447	30480447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	ggtccaggaggatgagcaagAtaactgcgaagagacagcga	15	7	0	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.chr2:30480447A>G	ENST00000395323.3	+	3	486	c.278A>G	c.(277-279)gAt>gGt	p.D93G	LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|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		Somatic				LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000404397.1_Intron	p.D93G	NM_030915.3	NP_112177.2	WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	G	30480447	A	G	30480447	3	3	1	1	0	0	0	0	1	0	0	0	8650	333	12	2	288	2	LBH	2	30480447	Missense_Mutation	SNP	A	TCGA-2A-A8VL-01A-21D-A377-08		30480447	212718926	4	4										
C6	729	broad.mit.edu	37	chr5	41160290	41160290	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	tcacagttctcaccataggtGccactctgacacacacacag	6	15	3	1	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_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Silent_p.G546G	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			Somatic				C6_ENST00000337836.5_Silent_p.G546G	p.G546G	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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	19	59	---	---	---	---	T	41160290	G	T	41160290	2	4	1	1	0	0	0	0	0	0	0	1	2315	1306	46	3		3	C6	5	41160290	Silent	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		41160290	139754970	5	5										
FRS3	10817	broad.mit.edu	37	chr6	41738928	41738928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	tccagcccggctcctctgggCtcagtctccagccagcccct	9	20	3	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		Somatic				FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	p.S303N	NM_006653.3	NP_006644.1	WXS	Illumina GAIIx	Phase_I	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	8	23	---	---	---	---	T	41738928	C	T	41738928	3	4	1	1	0	0	0	0	1	0	0	0	6062	797	28	2	574	2	FRS3	6	41738928	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		41738928	129376139	6	6										
BAI3	577	broad.mit.edu	37	chr6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	gcaccttgctaaggggcagcGaatgctggcaggtgatggaa	16	8	0	1	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		Somatic					p.R588Q	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	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	7	7										
MYB	4602	broad.mit.edu	37	chr6	135515025	135515025	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	gttacatgtaaatatagtcaAtgtccctcagccagctgccg	8	11	2	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.chr6:135515025A>T	ENST00000367814.4	+	7	998	c.812A>T	c.(811-813)aAt>aTt	p.N271I	MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000341911.5_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I	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		Somatic				MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I	p.N271I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	WXS	Illumina GAIIx	Phase_I	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	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	8	8										
ADAM18	8749	broad.mit.edu	37	chr8	39495171	39495171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	attacaaagatttttggcatGgaaacgggactatctcatcc	8	8	1	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.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*		Somatic				ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*|ADAM18_ENST00000541111.1_5'UTR	p.W259*	NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	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	18	65	---	---	---	---	A	39495171	G	A	39495171	4	1	1	1	0	0	0	0	0	1	0	0	239	1357	47	2	810	2	ADAM18	8	39495171	Nonsense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		39495171	106868851	9	9										
DNHD1	144132	broad.mit.edu	37	chr11	6541310	6541310	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	tctaactggaggcctacagtCtgtcaagacctctgccttgc	9	13	4	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.chr11:6541310C>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		Somatic				DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F|DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F	p.S588F	NM_144666.2	NP_653267.2	WXS	Illumina GAIIx	Phase_I	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	13	36	---	---	---	---	T	6541310	C	T	6541310	3	4	1	1	0	0	0	0	1	0	0	0	4668	913	32	2	1789	2	DNHD1	11	6541310	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		6541310	128465206	10	10										
OR5D16	390144	broad.mit.edu	37	chr11	55606971	55606971	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	acctgtgcctcccacctgacTgccatcaccatcttccatgg	6	18	2	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			Somatic					p.T248T	NM_001005496.1	NP_001005496.1	WXS	Illumina GAIIx	Phase_I	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	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	49065661	55606971	79399545	11	11										
TMED10	10972	broad.mit.edu	37	chr14	75602590	75602590	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	agcttctcaacttttgcaatCtggaaaagaatggaatattt	7	6	2	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.chr14:75602590C>G	ENST00000303575.4	-	4	463		c.e4-1		RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site	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			Somatic				RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	WXS	Illumina GAIIx	Phase_I	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	20	40	---	---	---	---	G	75602590	C	G	75602590	5	3	1	1	0	0	0	0	0	0	1	0	16000	927	32	4	256	4	TMED10	14	75602590	Splice_Site	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08		75602590	31746950	12	12										
ATG2B	55102	broad.mit.edu	37	chr14	96829289	96829289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	ccggcaggccctcttcttgaTggactccgaaaacggccaag	11	14	2	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.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		Somatic					p.I9V	NM_018036.5	NP_060506	WXS	Illumina GAIIx	Phase_I	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	18	61	---	---	---	---	C	96829289	T	C	96829289	3	2	1	1	0	0	0	0	1	0	0	0	1094	1464	51	2	6379	2	ATG2B	14	96829289	Missense_Mutation	SNP	T	TCGA-2A-A8VL-01A-21D-A377-08	21226699	96829289	10520251	13	13										
LASP1	3927	broad.mit.edu	37	chr17	37074891	37074891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	cggtgtatgactacagcgccGccgacgaggacgaggtctcc	14	13	1	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.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		Somatic				LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T	p.A216T	NM_006148.2	NP_006139.1	WXS	Illumina GAIIx	Phase_I	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	26	69	---	---	---	---	A	37074891	G	A	37074891	3	1	1	1	0	0	0	0	1	0	0	0	8637	1087	38	2	672	2	LASP1	17	37074891	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		37074891	44120319	14	14										
INTS2	57508	broad.mit.edu	37	chr17	60003895	60003895	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	atccgtaccaaacagggcagAagaagtcttaattctggatc	9	9	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.chr17:60003895A>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			Somatic				INTS2_ENST00000251334.6_Silent_p.L37L	p.L45L	NM_020748.2	NP_065799	WXS	Illumina GAIIx	Phase_I	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	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	15	15										
NCOA6	23054	broad.mit.edu	37	chr20	33324502	33324502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	agtacgccttacctggtctgGcaacagaggcctgcagtgct	12	12	1	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.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		Somatic				NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V	p.A1985V			WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	A	33324502	G	A	33324502	3	1	1	1	0	0	0	0	1	0	0	0	10233	1203	42	2	253	2	NCOA6	20	33324502	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		33324502	29701018	16	16										
GGT7	2686	broad.mit.edu	37	chr20	33440316	33440316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	ctgggagtcattgatatggcCccggaggtaggcggcctcca	15	11	1	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.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		Somatic					p.G449C	NM_178026.2	NP_821158.2	WXS	Illumina GAIIx	Phase_I	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	9	48	---	---	---	---	A	33440316	C	A	33440316	3	1	1	1	0	0	0	0	1	0	0	0	6364	623	22	1	663	1	GGT7	20	33440316	Missense_Mutation	SNP	C	TCGA-2A-A8VL-01A-21D-A377-08	115814	33440316	29585204	17	17										
ITIH5L	347365	broad.mit.edu	37	chrX	54783701	54783701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.73636363636364	6.94545454545455	0.992207792207792	1	1	0	atgccagaaccttccaggggGcagagtgggagtaaagggca	16	8	0	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		Somatic					p.P936T	NM_198510.2	NP_940912.1	WXS	Illumina GAIIx	Phase_I	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	11	13	---	---	---	---	T	54783701	G	T	54783701	3	4	1	1	0	0	0	0	1	0	0	0	7908	1203	42	3	1159	3	ITIH5L	23	54783701	Missense_Mutation	SNP	G	TCGA-2A-A8VL-01A-21D-A377-08		54783701	100486859	18	18										
TIE1	7075	broad.mit.edu	37	chr1	43779588	43779588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	cttttaaccctggtgtgcatCcgcagaagctgcctgcatcg	10	13	0	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.chr1:43779588C>T	ENST00000372476.3	+	14	2437	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	TIE1_ENST00000433781.2_Silent_p.I431I|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	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			Somatic				TIE1_ENST00000433781.2_Silent_p.I431I|TIE1_ENST00000473014.1_3'UTR	p.I786I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	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	13	35	---	---	---	---	T	43779588	C	T	43779588	2	4	2	1	0	0	0	0	0	0	0	1	15890	845	30	2		2	TIE1	1	43779588	Silent	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		43779588	205471033	1	19										
B4GALT2	8704	broad.mit.edu	37	chr1	44446882	44446882	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	gcgcgtctgcaaggctgtgcTccttctctgcctgctgcact	11	15	2	0			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		Somatic				B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H	p.L17H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	WXS	Illumina GAIIx	Phase_I	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	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	20										
GATAD2B	57459	broad.mit.edu	37	chr1	153790536	153790536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ctgtaatgttctcaaattttGaggttcaaccccttgggccc	8	11	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.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*		Somatic					p.Q237*	NM_020699.2	NP_065750.1	WXS	Illumina GAIIx	Phase_I	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	45	149	---	---	---	---	A	153790536	G	A	153790536	4	1	2	1	0	0	0	0	0	1	0	0	6261	1299	45	2	1100	2	GATAD2B	1	153790536	Nonsense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08	109343654	153790536	95460085	3	21										
HDGF	3068	broad.mit.edu	37	chr1	156714094	156714094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	caccgtcaccctctgcagctTcgggctctggttcaggctct	10	16	5	0			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_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|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		Somatic				HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G	p.E117G	NM_004494.2	NP_004485.1	WXS	Illumina GAIIx	Phase_I	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	25	372	---	---	---	---	C	156714094	T	C	156714094	3	2	2	1	0	0	0	0	1	0	0	0	7018	1783	62	2	384	2	HDGF	1	156714094	Missense_Mutation	SNP	T	TCGA-2A-A8VO-01A-11D-A377-08	2923558	156714094	92536527	4	22										
FAM5C	339479	broad.mit.edu	37	chr1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ccagtctggaaagctgttttCattcacaggcataaaccagc	8	11	3	0			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											c.(1768-1770)Gaa>Aaa		bone morphogenetic protein/retinoic acid inducible neural-specific 3							144	148	147					1																	190067681		2203	4300	6503	SO:0001583	missense	339479							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		Somatic				BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K	p.E590K	NM_199051.1	NP_950252.1	WXS	Illumina GAIIx	Phase_I					8	1999	-			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	41	130	---	---	---	---	T	190067681	C	T	190067681	3	4	2	1	0	0	0	0	1	0	0	0	5594	835	29	2	536	2	FAM5C	1	190067681	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	33353587	190067681	59182940	5	23										
MED12L	116931	broad.mit.edu	37	chr3	151075043	151075043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	tggaagctgaactgctcctaAaatcctccagcctggcagga	10	12	0	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	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	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		Somatic				P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q	p.K867Q	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	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	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		151075043	46947387	6	24										
CEP135	9662	broad.mit.edu	37	chr4	56886920	56886920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	gattatgatgctctgaaaagGcagatctcaactgaaagata	9	6	2	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.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			Somatic					p.R1098R	NM_025009.4	NP_079285.2	WXS	Illumina GAIIx	Phase_I	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	14	123	---	---	---	---	A	56886920	G	A	56886920	2	1	2	1	0	0	0	0	0	0	0	1	3247	1194	42	2		2	CEP135	4	56886920	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		56886920	134267356	7	25										
KIAA1430	57587	broad.mit.edu	37	chr4	186111652	186111652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	tttggtgtagtacttgaaggCtgtgtttctgtcgattttat	11	4	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.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			Somatic				KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q	p.Q233Q	NM_020827.1	NP_065878.1	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	T	186111652	C	T	186111652	2	4	2	1	0	0	0	0	0	0	0	1	8232	796	28	2		2	KIAA1430	4	186111652	Silent	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	129224732	186111652	5042624	8	26										
TBXAS1	6916	broad.mit.edu	37	chr7	139572059	139572059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ccacatcagcattctcaagaCtggagaagttaggcctcaga	9	11	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.chr7:139572059C>A	ENST00000455353.1	+	2	252	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000263552.6_Missense_Mutation_p.L40M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M			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		Somatic				TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR	p.L40M	NM_001130966.2	NP_001124438	WXS	Illumina GAIIx	Phase_I	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	39	161	---	---	---	---	A	139572059	C	A	139572059	3	1	2	1	0	0	0	0	1	0	0	0	15661	564	20	3	124	3	TBXAS1	7	139572059	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		139572059	19566604	9	27										
GTPBP4	23560	broad.mit.edu	37	chr10	1044996	1044996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	gcgttcacaaccaagtctctGtttgttgggcacatggatta	10	9	2	0			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_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.L158L	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			Somatic				GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000491635.1_3'UTR	p.L205L	NM_012341.2	NP_036473.2	WXS	Illumina GAIIx	Phase_I	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	11	26	---	---	---	---	A	1044996	G	A	1044996	2	1	2	1	0	0	0	0	0	0	0	1	6882	1364	48	2		2	GTPBP4	10	1044996	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		1044996	134489751	10	28										
ANK3	288	broad.mit.edu	37	chr10	61830119	61830119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ctgatctgtcaggatgtctgCcttccagtgtgaagaactgg	12	9	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.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																																						ENST00000280772.2																			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		Somatic				ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.G3507D	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	10711	-								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	21	97	---	---	---	---	T	61830119	C	T	61830119	3	4	2	1	0	0	0	0	1	0	0	0	622	739	26	2	2954	2	ANK3	10	61830119	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	60785123	61830119	73704628	11	29										
CCDC87	55231	broad.mit.edu	37	chr11	66359398	66359398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	cgagtcccctccaacttcatCttctttatcaactgcttcag	4	15	5	0	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		Somatic					p.K363N	NM_018219.2	NP_060689.2	WXS	Illumina GAIIx	Phase_I	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	7	33	---	---	---	---	G	66359398	C	G	66359398	3	3	2	1	0	0	0	0	1	0	0	0	2862	912	32	4	1464	4	CCDC87	11	66359398	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		66359398	68647118	12	30										
GRIN2B	2904	broad.mit.edu	37	chr12	13717134	13717134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	tgctgatggacctggactggGtggtgaagggtgggttgtca	19	5	1	2	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																																						ENST00000609686.1																			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		Somatic					p.T1013I	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	3247	-								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	14	29	---	---	---	---	A	13717134	G	A	13717134	3	1	2	1	0	0	0	0	1	0	0	0	6780	1261	44	2	1420	2	GRIN2B	12	13717134	Missense_Mutation	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		13717134	120134761	13	31										
ERBB3	2065	broad.mit.edu	37	chr12	56482346	56482346	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	gataactttgtggtggatcaAacatcctgtgtcagggcctg	12	8	2	0			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_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	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		Somatic				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H	p.Q298H	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	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	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	42765212	56482346	77369549	14	32										
TUBGCP4	27229	broad.mit.edu	37	chr15	43696671	43696671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ccagtgttcggaatcatcagAtcaactcagatttggctcaa	8	10	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.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		Somatic				TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V	p.I637V	NM_014444.2	NP_055259.2	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	G	43696671	A	G	43696671	3	3	2	1	0	0	0	0	1	0	0	0	16765	333	12	2	1975	2	TUBGCP4	15	43696671	Missense_Mutation	SNP	A	TCGA-2A-A8VO-01A-11D-A377-08		43696671	58834721	15	33										
KRT9	3857	broad.mit.edu	37	chr17	39724878	39724878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	tggatacctcatgctcgatcTgggttatctgcaaaaccaaa	8	10	3	0			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		Somatic				KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R	p.Q351R	NM_000226.3	NP_000217.2	WXS	Illumina GAIIx	Phase_I	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	62	182	---	---	---	---	C	39724878	T	C	39724878	3	2	2	1	0	0	0	0	1	0	0	0	8501	1580	55	2	831	2	KRT9	17	39724878	Missense_Mutation	SNP	T	TCGA-2A-A8VO-01A-11D-A377-08		39724878	41470332	16	34										
ZNF285	26974	broad.mit.edu	37	chr19	44891645	44891645	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	ttataagatttttctcctagGtgagtgctgtgatggacatg	11	5	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.chr19:44891645G>A	ENST00000330997.4	-	4	826	c.762C>T	c.(760-762)caC>caT	p.H254H	ZNF285_ENST00000544719.2_Silent_p.H254H|CTC-512J12.6_ENST00000588212.1_Intron|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			Somatic				ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H	p.H254H	NM_152354.3	NP_689567.3	WXS	Illumina GAIIx	Phase_I					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	9	114	---	---	---	---	A	44891645	G	A	44891645	2	1	2	1	0	0	0	0	0	0	0	1	17819	1252	44	2		2	ZNF285	19	44891645	Silent	SNP	G	TCGA-2A-A8VO-01A-11D-A377-08		44891645	14237338	17	35										
ZNF182	7569	broad.mit.edu	37	chrX	47836948	47836948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	tccattatcatatttattttCtgcagaacttctactaaata	2	8	3	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.chrX:47836948C>T	ENST00000396965.1	-	7	888	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K	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		Somatic				ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K	p.E180K	NM_001178099.1	NP_001171570.1	WXS	Illumina GAIIx	Phase_I	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	15	15	---	---	---	---	T	47836948	C	T	47836948	3	4	2	1	0	0	0	0	1	0	0	0	17747	922	32	2	1385	2	ZNF182	23	47836948	Missense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08		47836948	107433612	18	36										
IGSF1	3547	broad.mit.edu	37	chrX	130419246	130419246	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.210526315789474	4	0.968713181754189	1.92207792207792	5.28571428571429	1.58571428571429	0.523809523809524	1	0	gatgtaaaccccttcatcctCaggtgtcaggttgtcaatgg	10	10	4	0			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_ENST00000370904.1_Nonsense_Mutation_p.E183*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_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*		Somatic				IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183*	p.E183*			WXS	Illumina GAIIx	Phase_I	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	28	36	---	---	---	---	A	130419246	C	A	130419246	4	1	2	1	0	0	0	0	0	1	0	0	7596	835	29	3	3577	3	IGSF1	23	130419246	Nonsense_Mutation	SNP	C	TCGA-2A-A8VO-01A-11D-A377-08	82582298	130419246	24851314	19	37										
GSTM3	2947	broad.mit.edu	37	chr1	110280790	110280790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ctctatgatgtccactcgaaTcttttcttcttcagtctcac	4	13	6	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.chr1:110280790T>A	ENST00000540225.1	-	6	605	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|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		Somatic				GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	p.I99F			WXS	Illumina GAIIx	Phase_I	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	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	38										
LY9	4063	broad.mit.edu	37	chr1	160793350	160793350	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ccaggcaacagcctacacccAcctcagacagcagctctgac	7	18	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.chr1:160793350A>T	ENST00000263285.6	+	8	1624	c.1594A>T	c.(1594-1596)Acc>Tcc	p.T532S	LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368037.5_Missense_Mutation_p.T518S|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S|LY9_ENST00000341032.4_Intron			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																																						ENST00000368037.5																			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.(1552-1554)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		Somatic				LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000263285.6_Missense_Mutation_p.T532S|LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S	p.T518S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1666	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)							A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1552A>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	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	39										
USH2A	7399	broad.mit.edu	37	chr1	215963501	215963501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ggctctttggaataagttcaGtctcacagcattttactggc	9	9	3	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.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)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N	p.T3361N			WXS	Illumina GAIIx	Phase_I	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	5	52	---	---	---	---	T	215963501	G	T	215963501	3	4	3	1	0	0	0	0	1	0	0	0	17033	1029	36	3	5614	3	USH2A	1	215963501	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	55170151	215963501	33287120	3	40										
CLEC4F	165530	broad.mit.edu	37	chr2	71043280	71043280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ctggccttctgcagattgctGtctaacatctgggtctggga	12	10	4	1	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		Somatic				CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	T	71043280	G	T	71043280	3	4	3	1	0	0	0	0	1	0	0	0	3516	1368	48	3	552	3	CLEC4F	2	71043280	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		71043280	172156093	4	41										
LRRTM1	347730	broad.mit.edu	37	chr2	80530341	80530341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	caagccggcgaaagagttgcGcgccagactcttgagctgat	13	11	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.chr2:80530341G>A	ENST00000295057.3	-	2	1260	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C	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)	Somatic				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.R202C	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	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	10	59	---	---	---	---	A	80530341	G	A	80530341	3	1	3	1	0	0	0	0	1	0	0	0	9039	1087	38	2	968	2	LRRTM1	2	80530341	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	9487061	80530341	162669032	5	42										
ALPP	250	broad.mit.edu	37	chr2	233244506	233244506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gagtggtaaccaccacacgaGtgcagcacgcctcgccagcc	11	16	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.chr2:233244506G>A	ENST00000392027.2	+	5	786	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_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		Somatic				AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.V173M	NM_001632.3	NP_001623.3	WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	A	233244506	G	A	233244506	3	1	3	1	0	0	0	0	1	0	0	0	548	1029	36	2	535	2	ALPP	2	233244506	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	152714165	233244506	9954867	6	43										
HLTF	6596	broad.mit.edu	37	chr3	148765942	148765942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gtcctttaaagaattctggaTtggagtacctagaaataaca	8	6	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.chr3:148765942T>C	ENST00000310053.5	-	17	1958	c.1765A>G	c.(1765-1767)Atc>Gtc	p.I589V	HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V	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		Somatic				HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V	p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	WXS	Illumina GAIIx	Phase_I	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	16	25	---	---	---	---	C	148765942	T	C	148765942	3	2	3	1	0	0	0	0	1	0	0	0	7215	1493	52	2	1300	2	HLTF	3	148765942	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		148765942	49256488	7	44										
SI	6476	broad.mit.edu	37	chr3	164712161	164712161	+	Frame_Shift_Del	DEL	A	A	-													0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	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)tttfs		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)	Somatic					p.F1575fs	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	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	8	45										
FAT4	79633	broad.mit.edu	37	chr4	126372551	126372551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tctattaatccgcagacaggAcagatcaccgttactgcaga	8	11	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.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			Somatic				FAT4_ENST00000335110.5_Silent_p.G1758G	p.G3460G	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	18	59	---	---	---	---	G	126372551	A	G	126372551	2	3	3	1	0	0	0	0	0	0	0	1	5692	262	10	2		2	FAT4	4	126372551	Silent	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08		126372551	64781725	9	46										
C9	735	broad.mit.edu	37	chr5	39331784	39331784	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ccgaggagacttacttcataGatcaaagaagccacgttcca	8	11	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.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		Somatic				C9_ENST00000509186.1_5'UTR	p.I203M	NM_001737.3	NP_001728.1	WXS	Illumina GAIIx	Phase_I	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	20	24	---	---	---	---	C	39331784	G	C	39331784	3	2	3	1	0	0	0	0	1	0	0	0	2443	932	33	4	1098	4	C9	5	39331784	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		39331784	141583476	10	47										
NUDT12	83594	broad.mit.edu	37	chr5	102890441	102890441	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	attattaagaaatggcttacCaggctcaataaatccagcaa	6	8	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.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.(1078-1080)Gga>Cga		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			Somatic				NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342R	p.G360R	NM_031438.2	NP_113626.1	WXS	Illumina GAIIx	Phase_I	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.1078G>C	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	3	28	---	---	---	---	G	102890441	C	G	102890441	5	3	3	1	0	0	0	0	0	0	1	0	10728	608	21	4	322	4	NUDT12	5	102890441	Splice_Site	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	63558657	102890441	78024819	11	48										
COQ3	51805	broad.mit.edu	37	chr6	99823923	99823923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ttctgcagtctcttccacaaTctcttccagggaacacactc	5	15	3	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.chr6:99823923T>C	ENST00000254759.3	-	5	646	c.622A>G	c.(622-624)Att>Gtt	p.I208V	COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_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		Somatic				COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	p.I208V	NM_017421.3	NP_059117.3	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	C	99823923	T	C	99823923	3	2	3	1	0	0	0	0	1	0	0	0	3746	1435	50	2	499	2	COQ3	6	99823923	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		99823923	71291144	12	49										
TAB2	23118	broad.mit.edu	37	chr6	149699821	149699821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ttcacagcctggtccctggaCtacttgtcctgcatctaatc	7	14	2	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.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_ENST00000536230.1_Missense_Mutation_p.T225I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000286332.5_Missense_Mutation_p.T257I			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		Somatic				TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I	p.T257I			WXS	Illumina GAIIx	Phase_I	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	28	42	---	---	---	---	T	149699821	C	T	149699821	3	4	3	1	0	0	0	0	1	0	0	0	15493	565	20	2	776	2	TAB2	6	149699821	Missense_Mutation	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	49875898	149699821	21415246	13	50										
MACC1	346389	broad.mit.edu	37	chr7	20180754	20180754	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gtgagcactccaggtatacaGaaaatcataggcaggtttcc	10	9	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.chr7:20180754G>C	ENST00000400331.5	-	7	2682	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_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		Somatic				MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V	p.L792V	NM_182762.3	NP_877439.3	WXS	Illumina GAIIx	Phase_I	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	5	30	---	---	---	---	C	20180754	G	C	20180754	3	2	3	1	0	0	0	0	1	0	0	0	9143	933	33	4	188	4	MACC1	7	20180754	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		20180754	138957909	14	51										
RAD54B	25788	broad.mit.edu	37	chr8	95416434	95416434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tcttattgaatacccactggTgattcttatctggtcgtggc	9	9	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.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		Somatic					p.H272R	NM_012415.3	NP_036547.1	WXS	Illumina GAIIx	Phase_I	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	13	57	---	---	---	---	C	95416434	T	C	95416434	3	2	3	1	0	0	0	0	1	0	0	0	12992	1696	59	2	1957	2	RAD54B	8	95416434	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		95416434	50947588	15	52										
TYRP1	7306	broad.mit.edu	37	chr9	12695765	12695765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gaaagctttggtgaagtggaTttctctcatgagggaccagc	13	7	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_ENST00000381136.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000381137.2_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		Somatic				TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E|TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame				WXS	Illumina GAIIx	Phase_I	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	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	16	53										
FAM75A6	389730	broad.mit.edu	37	chr9	43627521	43627521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gaggtccgggcagctgtttcGagttctctcccatgttccag	12	12	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.chr9:43627521G>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		Somatic					p.S389L	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					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	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	30931756	43627521	97585910	17	54										
GOLM1	51280	broad.mit.edu	37	chr9	88651374	88651374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ttgtggcacctctgtgtgtgGcaggcctgctgcctgcagcc	14	13	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.chr9:88651374G>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		Somatic				GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T	p.P216T	NM_016548.3	NP_057632.2	WXS	Illumina GAIIx	Phase_I	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	11	32	---	---	---	---	T	88651374	G	T	88651374	3	4	3	1	0	0	0	0	1	0	0	0	6567	1203	42	3	575	3	GOLM1	9	88651374	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	45023853	88651374	52562057	18	55										
ARHGAP12	94134	broad.mit.edu	37	chr10	32101744	32101744	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gaagaatctatgctagatacTttaaaggcttaagacaaaaa	7	5	1	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.chr10:32101744T>A	ENST00000344936.2	-	15	2076	c.1842A>T	c.(1840-1842)aaA>aaT	p.K614N	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N|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		Somatic				ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N	p.K584N	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	WXS	Illumina GAIIx	Phase_I	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	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	19	56										
C10orf71	118461	broad.mit.edu	37	chr10	50531758	50531758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	agccaaagactggcaaaaaaGggaaagaaagtctacaagat	10	6	1	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.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		Somatic				C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W	p.G390W			WXS	Illumina GAIIx	Phase_I	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	10	33	---	---	---	---	T	50531758	G	T	50531758	3	4	3	1	0	0	0	0	1	0	0	0	1614	1000	35	1	1170	1	C10orf71	10	50531758	Missense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	18430014	50531758	85002989	20	57										
PIK3AP1	118788	broad.mit.edu	37	chr10	98386517	98386517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tggtgagcaccaggagcagtGgtctctggtctgggcactgg	17	9	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.chr10:98386517G>A	ENST00000339364.5	-	10	1736	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	PIK3AP1_ENST00000371109.3_Silent_p.T138T|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Silent_p.T361T	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			Somatic				PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	p.T539T	NM_152309.2	NP_689522.2	WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	A	98386517	G	A	98386517	2	1	3	1	0	0	0	0	0	0	0	1	11908	1335	47	2		2	PIK3AP1	10	98386517	Silent	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08	47854759	98386517	37148230	21	58										
E2F8	79733	broad.mit.edu	37	chr11	19252363	19252363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ccaaatcagagggagtaaaaTgaatgactgggctggagcct	13	7	1	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.chr11:19252363T>C	ENST00000527884.1	-	8	1317	c.1085A>G	c.(1084-1086)cAt>cGt	p.H362R	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.H362R	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	27	---	---	---	---	C	19252363	T	C	19252363	3	2	3	1	0	0	0	0	1	0	0	0	4873	1464	51	2	1542	2	E2F8	11	19252363	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		19252363	115754153	22	59										
OR4C13	283092	broad.mit.edu	37	chr11	49974310	49974310	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	agaggtgttgaggtcatcctActtactgtaatggcctatga	11	7	1	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.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			Somatic					p.L112L	NM_001001955.2	NP_001001955.2	WXS	Illumina GAIIx	Phase_I	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	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	30721947	49974310	85032206	23	60										
DAK	26007	broad.mit.edu	37	chr11	61110228	61110228	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gtgtcatgtctacccgcaggCtcctcagttgtgatgatggt	12	10	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.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.(775-777)ggC>ggA		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			Somatic					p.G259G	NM_015533.3	NP_056348.2	WXS	Illumina GAIIx	Phase_I	Q3LXA3	DHAK_HUMAN			10	1006	+			259			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Splice_Site	SNP	ENST00000394900.3	37	c.777C>A	CCDS8003.1																																																																																				0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	Silent	14	23	14	23	---	---	---	---	A	61110228	C	A	61110228	5	1	3	1	0	0	0	0	0	0	1	0	4228	811	28	3	811	3	DAK	11	61110228	Splice_Site	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	11135918	61110228	73896288	24	61										
AHNAK	79026	broad.mit.edu	37	chr11	62284330	62284330	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gacttcttagaggccagggaCaccccactcccctgtaactt	8	15	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.chr11:62284330C>A	ENST00000378024.4	-	5	17833	c.17559G>T	c.(17557-17559)gtG>gtT	p.V5853V	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_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			Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron	p.V5853V	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	35	69	---	---	---	---	A	62284330	C	A	62284330	2	1	3	1	0	0	0	0	0	0	0	1	414	465	17	3		3	AHNAK	11	62284330	Silent	SNP	C	TCGA-2A-A8VT-01A-11D-A377-08	1174102	62284330	72722186	25	62										
HNRNPA1	3178	broad.mit.edu	37	chr12	54675192	54675192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tcctaaagagcccgaacagcTgaggaagctcttcattggag	11	10	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.chr12:54675192T>C	ENST00000340913.6	+	2	91	c.38T>C	c.(37-39)cTg>cCg	p.L13P	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.L13P|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA	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		Somatic				HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P	p.L13P			WXS	Illumina GAIIx	Phase_I	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	18	26	---	---	---	---	C	54675192	T	C	54675192	3	2	3	1	0	0	0	0	1	0	0	0	7257	1580	55	2	44	2	HNRNPA1	12	54675192	Missense_Mutation	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		54675192	79176703	26	63										
ANXA2	302	broad.mit.edu	37	chr15	60641330	60641330	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	cttgaattcagacctaatttTcaacatgtccacttcactgc	4	12	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.chr15:60641330T>A	ENST00000396024.3	-	13	1063	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*	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*		Somatic				ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*	p.K302*	NM_001136015.2	NP_001129487.1	WXS	Illumina GAIIx	Phase_I	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	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	27	64										
CHD9	80205	broad.mit.edu	37	chr16	53190610	53190610	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	aaaaattttatgaatgtttcTggtccacatagagtcaatgt	7	5	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.chr16:53190610T>A	ENST00000398510.3	+	1	696	c.609T>A	c.(607-609)tcT>tcA	p.S203S	CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000566029.1_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			Somatic				CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S	p.S203S			WXS	Illumina GAIIx	Phase_I	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	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		53190610	37164143	28	65										
TP53	7157	broad.mit.edu	37	chr17	7579592	7579592	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	cttgggacggcaagggggacTgtagatgggtgaaaagagca	18	5	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.chr17:7579592T>C	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_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.?(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)	Somatic				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	41	38	---	---	---	---	C	7579592	T	C	7579592	5	2	3	1	0	0	0	0	0	0	1	0	16378	1594	55	2	1207	2	TP53	17	7579592	Splice_Site	SNP	T	TCGA-2A-A8VT-01A-11D-A377-08		7579592	73615618	29	66										
OR10H2	26538	broad.mit.edu	37	chr19	15839766	15839766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tgaaggttgccatgaagaggAccttcctcagcacactctat	9	11	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.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		Somatic					p.T305A	NM_013939.2	NP_039227.1	WXS	Illumina GAIIx	Phase_I	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	3	25	---	---	---	---	G	15839766	A	G	15839766	3	3	3	1	0	0	0	0	1	0	0	0	10906	275	10	2	915	2	OR10H2	19	15839766	Missense_Mutation	SNP	A	TCGA-2A-A8VT-01A-11D-A377-08		15839766	43289217	30	67										
COX7A1	1346	broad.mit.edu	37	chr19	36641901	36641901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	gtcttaattcctggggaaggAggcccagccaagggagtaca	14	9	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.chr19:36641901A>T	ENST00000292907.3	-	4	684	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T|AD001527.7_ENST00000604228.1_RNA	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		Somatic				COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	p.S75T	NM_001864.2	NP_001855.1	WXS	Illumina GAIIx	Phase_I	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	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	31	68										
RYR1	6261	broad.mit.edu	37	chr19	38933032	38933032	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ctgttgcttcgtcctggagcAgtccctgtctgtgcgagccc	12	14	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.chr19:38933032A>T	ENST00000359596.3	+	3	209	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L|RYR1_ENST00000355481.4_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		Somatic				RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L|RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L	p.Q70L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	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	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	32	69										
SLC1A5	6510	broad.mit.edu	37	chr19	47278981	47278981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ccagagcgtcaccttctacaTtgaggacggtacaggaccgg	12	12	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.chr19:47278981T>A	ENST00000542575.2	-	8	2040	c.1412A>T	c.(1411-1413)aAt>aTt	p.N471I	SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I	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		Somatic				SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|FKRP_ENST00000600646.1_Intron	p.N471I	NM_005628.2	NP_005619.1	WXS	Illumina GAIIx	Phase_I	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	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	33	70										
IZUMO1	284359	broad.mit.edu	37	chr19	49248542	49248542	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	accccttttgcagtgtggccTcatctgtcagaggagatata	10	10	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.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		Somatic					p.E80V	NM_182575.2	NP_872381.2	WXS	Illumina GAIIx	Phase_I	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	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	34	71										
DSTN	11034	broad.mit.edu	37	chr20	17581394	17581394	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	tcatcataggcctcaggagtGcaagtagctgatgaagtatg	12	7	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.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																																						ENST00000246069.7																			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			Somatic				DSTN_ENST00000474024.1_5'UTR	p.V5V	NM_006870.3	NP_006861.1	WXS	Illumina GAIIx	Phase_I	P60981	DEST_HUMAN			2	361	+						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	3	23	---	---	---	---	T	17581394	G	T	17581394	2	4	3	1	0	0	0	0	0	0	0	1	4784	1306	46	3		3	DSTN	20	17581394	Silent	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		17581394	45444126	35	72										
CD40	958	broad.mit.edu	37	chr20	44756996	44756996	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ggccaagaagccaaccaataAggtaggtcacccctgagaac	10	12	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.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.(673-675)aAg>aTg		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			Somatic	OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Splice_Site_p.*204Y	p.K225M	NM_001250.4	NP_001241.1	WXS	Illumina GAIIx	Phase_I	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.674A>T	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	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	36	73										
HS6ST2	90161	broad.mit.edu	37	chrX	131762490	131762490	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0810810810810811	3	1	1.89405684754522	3.78811369509044	0.94702842377261	1	1	0	ctggctctggaaatgggtctGaaggagccttcccttcagaa	12	10	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_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*	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*		Somatic				HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*	p.Q527*	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	A	131762490	G	A	131762490	4	1	3	1	0	0	0	0	0	1	0	0	7371	1299	45	2	242	2	HS6ST2	23	131762490	Nonsense_Mutation	SNP	G	TCGA-2A-A8VT-01A-11D-A377-08		131762490	23508070	37	74										
TACSTD2	4070	broad.mit.edu	37	chr1	59042487	59042487	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttgcactggcgcgccttGaagcggccctcggggtcgca	16	13	0	1			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		Somatic					p.F114L	NM_002353.2	NP_002344.2	WXS	Illumina GAIIx	Phase_I	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	10	4	---	---	---	---	T	59042487	G	T	59042487	3	4	4	1	0	0	0	0	1	0	0	0	15505	1281	45	3	633	3	TACSTD2	1	59042487	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		59042487	190208134	1	75										
OR2G2	81470	broad.mit.edu	37	chr1	247752563	247752563	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgaggatcaaggaggtgaAaggggcattaaagaaagttc	14	4	1	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		Somatic				RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.K301I	NM_001001915.1	NP_001001915.1	WXS	Illumina GAIIx	Phase_I	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	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	188710076	247752563	1498058	2	76										
CCDC108	255101	broad.mit.edu	37	chr2	219892592	219892592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgggggcctcaggccctGggcaggcaccgaagtctacc	16	13	2	0			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_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L	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		Somatic				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	p.P664L	NM_194302.2	NP_919278.2	WXS	Illumina GAIIx	Phase_I	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	16	24	---	---	---	---	A	219892592	G	A	219892592	3	1	4	1	0	0	0	0	1	0	0	0	2743	1348	47	2	3878	2	CCDC108	2	219892592	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		219892592	23306781	3	77										
MUC17	140453	broad.mit.edu	37	chr7	100682353	100682353	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggtcacttctactgaaatCagttcatctgctacatccgc	7	12	5	1			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			Somatic					p.I2552I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	74	197	---	---	---	---	A	100682353	C	A	100682353	2	1	4	1	0	0	0	0	0	0	0	1	9974	816	29	3		3	MUC17	7	100682353	Silent	SNP	C	TCGA-2A-A8VV-01A-11D-A377-08		100682353	58456310	4	78										
PKHD1L1	93035	broad.mit.edu	37	chr8	110452985	110452985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgttttagaagtgaccagcAtgtttccacaaagaggctcc	9	9	0	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)	Somatic					p.M1335L	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	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	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	5	79										
SLC17A6	57084	broad.mit.edu	37	chr11	22382484	22382484	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgggatatggagcaaatgGgccccacctctagagaggag	14	9	1	1			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*		Somatic					p.W205*	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	A	22382484	G	A	22382484	4	1	4	1	0	0	0	0	0	1	0	0	14421	1241	43	2	633	2	SLC17A6	11	22382484	Nonsense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		22382484	112624032	6	80										
MYO7A	4647	broad.mit.edu	37	chr11	76873971	76873971	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaactacatcccccccaagAacaaccatgagacccagttt	4	17	0	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		Somatic				MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	p.N543Y	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	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	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	54491487	76873971	58132545	7	81										
OR8G5	219865	broad.mit.edu	37	chr11	124135393	124135393	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctatcttgaagctctcctGttctagtacttacattaatg	5	9	4	1			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.chr11:124135393G>C	ENST00000524943.2	+	1	671	c.671G>C	c.(670-672)tGt>tCt	p.C224S	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|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;0.0523)		AAGCTCTCCTGTTCTAGTACT	0.368																																					Ovarian(169;523 1969 8640 31295 51256)	ENST00000524943.2																			0											c.(670-672)tGt>tCt		olfactory receptor, family 8, subfamily G, member 5							188	185	186					11																	124135393		1933	4154	6087	SO:0001583	missense	219865							g.chr11:124135393G>C	BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.671G>C	11.37:g.124135393G>C	ENSP00000477014:p.Cys224Ser		Somatic				OR8G1_ENST00000341493.2_RNA	p.C224S	NM_001005198.1	NP_001005198.1	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)	1	671	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)						B2RND3|Q6IEU6	Missense_Mutation	SNP	ENST00000524943.2	37	c.671G>C																																																																																					0.368	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198		18	120	18	120	---	---	---	---	C	124135393	G	C	124135393	3	2	4	1	0	0	0	0	1	0	0	0	11236	1377	48	4	673	4	OR8G5	11	124135393	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08	47261422	124135393	10871123	8	82										
TUBGCP3	10426	broad.mit.edu	37	chr13	113223466	113223466	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catttaagaaaaatacgtacGctctttcttgattttttcag	5	7	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.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.(184-186)Ctt>Ttt		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			Somatic				TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	p.L62F	NM_006322.4	NP_006313.1	WXS	Illumina GAIIx	Phase_I	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.184C>T	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	9	31	---	---	---	---	A	113223466	G	A	113223466	5	1	4	1	0	0	0	0	0	0	1	0	16764	1101	38	2	2623	2	TUBGCP3	13	113223466	Splice_Site	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		113223466	1946412	9	83										
CEP152	22995	broad.mit.edu	37	chr15	49059645	49059645	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcttcatggtgctgctgAtaagtcctttcacacctgga	10	10	2	1	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_ENST00000399334.3_Nonsense_Mutation_p.Y678*|CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*	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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	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		49059645	53471747	10	84										
ZNF568	374900	broad.mit.edu	37	chr19	37440962	37440962	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	accacagaattcatactgggGagaaaccttatgcatgtaag	9	8	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.chr19:37440962G>C	ENST00000333987.7	+	7	1413	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	ZNF568_ENST00000415168.1_Missense_Mutation_p.E239Q|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	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		Somatic				ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q|ZNF568_ENST00000427117.1_Intron	p.E239Q	NM_001204837.1	NP_001191766.1	WXS	Illumina GAIIx	Phase_I	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	4	40	---	---	---	---	C	37440962	G	C	37440962	3	2	4	1	0	0	0	0	1	0	0	0	17996	1175	41	4	925	4	ZNF568	19	37440962	Missense_Mutation	SNP	G	TCGA-2A-A8VV-01A-11D-A377-08		37440962	21688021	11	85										
UCK2	7371	broad.mit.edu	37	chr1	165872475	165872475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagattttatctcagtacAttacgttcgtcaagcctgcc	7	11	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.chr1:165872475A>C	ENST00000367879.4	+	5	859	c.556A>C	c.(556-558)Att>Ctt	p.I186L	UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L|RP11-525G13.2_ENST00000455257.2_RNA	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		Somatic				UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L	p.I186L	NM_012474.4	NP_036606.2	WXS	Illumina GAIIx	Phase_I	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	6	172	---	---	---	---	C	165872475	A	C	165872475	3	2	5	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		165872475	83378146	1	86										
HMCN1	83872	broad.mit.edu	37	chr1	185880806	185880806	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttatgttctgtctttcagGgaagctgataaaaaagggat	10	5	3	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.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.(793-795)gGg>gAg		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			Somatic				HMCN1_ENST00000367492.2_Splice_Site_p.G265E	p.G265E	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			6	1023	+			265					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.794G>A	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	42	64	---	---	---	---	A	185880806	G	A	185880806	5	1	5	1	0	0	0	0	0	0	1	0	7220	1246	43	2	816	2	HMCN1	1	185880806	Splice_Site	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08	20008331	185880806	63369815	2	87										
MIA3	375056	broad.mit.edu	37	chr1	222833531	222833531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctttaggtcctctgagccAgaatggctcttttggcccat	9	11	3	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.chr1:222833531A>G	ENST00000344922.5	+	24	5013	c.4988A>G	c.(4987-4989)cAg>cGg	p.Q1663R	MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron	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		Somatic				MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R	p.Q1663R	NM_198551.2	NP_940953.2	WXS	Illumina GAIIx	Phase_I	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	25	25	---	---	---	---	G	222833531	A	G	222833531	3	3	5	1	0	0	0	0	1	0	0	0	9565	188	7	2	5082	2	MIA3	1	222833531	Missense_Mutation	SNP	A	TCGA-2A-A8W1-01A-11D-A377-08	36952725	222833531	26417090	3	88										
LRP1B	53353	broad.mit.edu	37	chr2	141945999	141945999	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatttcttaccctgctattGgatctactgctattgcttta	6	9	2	0	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)	Somatic					p.P335R	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	17	47	---	---	---	---	C	141945999	G	C	141945999	3	2	5	1	0	0	0	0	1	0	0	0	8955	1348	47	4	13135	4	LRP1B	2	141945999	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		141945999	101253374	4	89										
EPHB1	2047	broad.mit.edu	37	chr3	134670794	134670794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagaggaagtggacgtgccCatcaaactctactgcaacgg	12	11	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.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			Somatic				EPHB1_ENST00000488154.1_Intron	p.P235P	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	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	65	79	---	---	---	---	T	134670794	C	T	134670794	2	4	5	1	0	0	0	0	0	0	0	1	5174	581	21	2		2	EPHB1	3	134670794	Silent	SNP	C	TCGA-2A-A8W1-01A-11D-A377-08		134670794	63351636	5	90										
PDK4	5166	broad.mit.edu	37	chr7	95222106	95222106	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatccgagtagaaatacgGttcatgtaaaatcgatccaa	8	8	1	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.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		Somatic					p.N165K	NM_002612.3	NP_002603.1	WXS	Illumina GAIIx	Phase_I	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	4	64	---	---	---	---	C	95222106	G	C	95222106	3	2	5	1	0	0	0	0	1	0	0	0	11678	1252	44	4	772	4	PDK4	7	95222106	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		95222106	63916557	6	91										
XKR9	389668	broad.mit.edu	37	chr8	71646088	71646088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcaactgttgattatcaagTagctttaagaaaatccttgc	7	7	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.chr8:71646088T>C	ENST00000408926.3	+	5	1085	c.551T>C	c.(550-552)gTa>gCa	p.V184A	XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	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		Somatic				XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron	p.V184A	NM_001011720.1	NP_001011720.1	WXS	Illumina GAIIx	Phase_I	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	16	67	---	---	---	---	C	71646088	T	C	71646088	3	2	5	1	0	0	0	0	1	0	0	0	17435	1638	57	2	561	2	XKR9	8	71646088	Missense_Mutation	SNP	T	TCGA-2A-A8W1-01A-11D-A377-08		71646088	74717934	7	92										
ARHGAP21	57584	broad.mit.edu	37	chr10	24880205	24880205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaatgttggtgagtaaatGatctatgtttggcactggct	11	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.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		Somatic				ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N	p.H1367N	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	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	28	55	---	---	---	---	T	24880205	G	T	24880205	3	4	5	1	0	0	0	0	1	0	0	0	871	1290	45	3	1789	3	ARHGAP21	10	24880205	Missense_Mutation	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		24880205	110654542	8	93										
LRRC43	254050	broad.mit.edu	37	chr12	122685876	122685876	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaagaaagttgccaaaaaaGgtgagtgccgatggtggtga	14	4	0	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.chr12:122685876G>C	ENST00000339777.4	+	11	1871	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|B3GNT4_ENST00000546192.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR	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.(1843-1845)Gaa>Caa		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			Somatic				LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|LRRC43_ENST00000537733.1_3'UTR	p.E615Q	NM_152759.4	NP_689972.3	WXS	Illumina GAIIx	Phase_I	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.1843G>C	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	24	39	---	---	---	---	C	122685876	G	C	122685876	5	2	5	1	0	0	0	0	0	0	1	0	9001	1014	35	4	1885	4	LRRC43	12	122685876	Splice_Site	SNP	G	TCGA-2A-A8W1-01A-11D-A377-08		122685876	11166019	9	94										
KIAA0564	23078	broad.mit.edu	37	chr13	42273390	42273390	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcatgtaactacatagagAgtattttgctcattttctga	7	6	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.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			Somatic					p.T1127T	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					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	29	35	---	---	---	---	C	42273390	A	C	42273390	2	2	5	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	10	95										
IRX3	79191	broad.mit.edu	37	chr16	54319405	54319405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggtggcgttcttgggacGggacgggtccccgaactggt	17	11	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.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		Somatic					p.R130C	NM_024336.2	NP_077312.2	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	54319405	G	A	54319405	3	1	5	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		54319405	36035348	11	96										
ZNF846	162993	broad.mit.edu	37	chr19	9868382	9868382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgtggaacgagcaaatgcTttaccgcattccttacattc	7	10	0	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.chr19:9868382T>A	ENST00000397902.2	-	6	1784	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|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		Somatic				ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	p.K457N	NM_001077624.1	NP_001071092.1	WXS	Illumina GAIIx	Phase_I	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	6	87	---	---	---	---	A	9868382	T	A	9868382	3	1	5	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	12	97										
EPHA10	284656	broad.mit.edu	37	chr1	38192843	38192843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ccgagatggtcactacggtgAcgacaatggcggggctctgg	16	10	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.chr1:38192843A>G	ENST00000373048.4	-	8	1702	c.1703T>C	c.(1702-1704)gTc>gCc	p.V568A	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A|EPHA10_ENST00000540011.1_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		Somatic				EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A	p.V568A	NM_001099439.1	NP_001092909.1	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	G	38192843	A	G	38192843	3	3	6	1	0	0	0	0	1	0	0	0	5166	275	10	2	1363	2	EPHA10	1	38192843	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08		38192843	211057778	1	98										
FAM151A	338094	broad.mit.edu	37	chr1	55075174	55075174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	catggcctgcatctggaaggAcacaggttgccagagcccct	12	13	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	FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR	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		Somatic				FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	p.S509P	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	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	21	103	---	---	---	---	G	55075174	A	G	55075174	3	3	6	1	0	0	0	0	1	0	0	0	5458	275	10	2	236	2	FAM151A	1	55075174	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08	16882331	55075174	194175447	2	99										
CCT4	10575	broad.mit.edu	37	chr2	62099698	62099698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	gaacaacaattgtaactgttTttccagggctggcacagcct	9	10	0	0			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	CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R	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		Somatic				CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA	p.K384R	NM_006430.3	NP_006421.2	WXS	Illumina GAIIx	Phase_I	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	14	42	---	---	---	---	C	62099698	T	C	62099698	3	2	6	1	0	0	0	0	1	0	0	0	2955	1841	64	2	484	2	CCT4	2	62099698	Missense_Mutation	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		62099698	181099675	3	100										
ALMS1	7840	broad.mit.edu	37	chr2	73835695	73835696	+	Frame_Shift_Ins	INS	-	-	A													0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	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.(12454-12456)aaafs		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		Somatic				ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	p.K4152fs	NM_015120.4	NP_055935	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			22	12564_12565	+			4152					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	6	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	4	101										
COL6A3	1293	broad.mit.edu	37	chr2	238283426	238283426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ccccggtgttgggggtcggcCctcccagcagggtcagctgg	17	14	1	0			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_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E	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		Somatic				COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E	p.G1103E	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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	15	37	---	---	---	---	T	238283426	C	T	238283426	3	4	6	1	0	0	0	0	1	0	0	0	3701	623	22	2	6420	2	COL6A3	2	238283426	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	164447731	238283426	4915947	5	102										
CNTN6	27255	broad.mit.edu	37	chr3	1367541	1367541	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	aatccaaaatacacacctctCtatctatgacaacttgctct	2	13	3	1	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_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F			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		Somatic				CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F	p.S330F			WXS	Illumina GAIIx	Phase_I	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	12	62	---	---	---	---	T	1367541	C	T	1367541	3	4	6	1	0	0	0	0	1	0	0	0	3645	913	32	2	1019	2	CNTN6	3	1367541	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		1367541	196654889	6	103										
SRGAP3	9901	broad.mit.edu	37	chr3	9055452	9055452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	agcgaagaggtatctcatgaCcacaatgaccacgcggggaa	12	10	1	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.chr3:9055452C>T	ENST00000383836.3	-	16	2315	c.1888G>A	c.(1888-1890)Gtc>Atc	p.V630I	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I|SRGAP3-AS1_ENST00000414633.1_RNA|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		Somatic				SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I	p.V630I	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	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	8	42	---	---	---	---	T	9055452	C	T	9055452	3	4	6	1	0	0	0	0	1	0	0	0	15146	507	18	2	1439	2	SRGAP3	3	9055452	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	7687911	9055452	188966978	7	104										
DNAJC13	23317	broad.mit.edu	37	chr3	132196704	132196704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	agattactattggaggaagaTgagaatgaagaaagtggatc	13	2	0	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.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		Somatic					p.D839E	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	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	17	104	---	---	---	---	A	132196704	T	A	132196704	3	1	6	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	8	105										
ATP8A1	10396	broad.mit.edu	37	chr4	42576684	42576684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	tcttaaactgcattacattgCatgtcagagtaccagttttg	7	8	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.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		Somatic				ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	p.C416Y	NM_006095.2	NP_006086.1	WXS	Illumina GAIIx	Phase_I	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	16	81	---	---	---	---	T	42576684	C	T	42576684	3	4	6	1	0	0	0	0	1	0	0	0	1192	710	25	2	2343	2	ATP8A1	4	42576684	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		42576684	148577592	9	106										
NAA15	80155	broad.mit.edu	37	chr4	140297585	140297585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	agaacttggtgaagaacaagAtagagactcatctttttgcc	9	7	2	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.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		Somatic				NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	p.I672V	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	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	12	45	---	---	---	---	G	140297585	A	G	140297585	3	3	6	1	0	0	0	0	1	0	0	0	10118	333	12	2	2076	2	NAA15	4	140297585	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08	97720901	140297585	50856691	10	107										
PCDHA1	56147	broad.mit.edu	37	chr5	140168038	140168038	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ctgctgctgtacacggcgctGcggtgctcagtgccgcccac	13	16	1	0			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	56147							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			Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L	p.L721L	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			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	4	49	---	---	---	---	T	140168038	G	T	140168038	2	4	6	1	0	0	0	0	0	0	0	1	11519	1306	46	3		3	PCDHA1	5	140168038	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		140168038	40747222	11	108										
RANBP9	10048	broad.mit.edu	37	chr6	13625976	13625976	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ctgttccagggatctgaataTgctagtagactgaatgcatc	10	8	1	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.chr6:13625976T>C	ENST00000011619.3	-	13	2026	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	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			Somatic				RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	p.A656A	NM_005493.2	NP_005484.2	WXS	Illumina GAIIx	Phase_I	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	26	68	---	---	---	---	C	13625976	T	C	13625976	2	2	6	1	0	0	0	0	0	0	0	1	13032	1451	51	2		2	RANBP9	6	13625976	Silent	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		13625976	157489091	12	109										
HIST1H3C	8352	broad.mit.edu	37	chr6	26045770	26045770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	aaacctcatcgctaccgcccGggcaccgtggccttgcgcga	11	17	1	0			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			Somatic					p.P44P	NM_003531.2	NP_003522.1	WXS	Illumina GAIIx	Phase_I	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	6	68	---	---	---	---	A	26045770	G	A	26045770	2	1	6	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	13	110										
CHRM2	1129	broad.mit.edu	37	chr7	136699850	136699850	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	gtgttttctccatgaacttgTacaccctctacactgtgatt	6	11	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.chr7:136699850T>C	ENST00000445907.2	+	3	766	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_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		Somatic				hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA	p.Y80H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	WXS	Illumina GAIIx	Phase_I	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	22	90	---	---	---	---	C	136699850	T	C	136699850	3	2	6	1	0	0	0	0	1	0	0	0	3377	1638	57	2	240	2	CHRM2	7	136699850	Missense_Mutation	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		136699850	22438813	14	111										
ST3GAL1	6482	broad.mit.edu	37	chr8	134472109	134472109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	cccgtcttgcgaaaagccccCgcggatgggttgttctccca	11	15	2	0			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_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000521180.1_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			Somatic				ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A	p.A307A			WXS	Illumina GAIIx	Phase_I	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	4	167	---	---	---	---	T	134472109	C	T	134472109	2	4	6	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	15	112										
PDE6C	5146	broad.mit.edu	37	chr10	95399905	95399905	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	tcccccttacagagcacggaTtgattaaatgtggaatacga	9	9	0	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.chr10:95399905T>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			Somatic					p.L521L	NM_006204.3	NP_006195.3	WXS	Illumina GAIIx	Phase_I	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	17	47	---	---	---	---	C	95399905	T	C	95399905	2	2	6	1	0	0	0	0	0	0	0	1	11647	1490	52	2		2	PDE6C	10	95399905	Silent	SNP	T	TCGA-2A-A8W3-01A-11D-A377-08		95399905	40134842	16	113										
TACC2	10579	broad.mit.edu	37	chr10	123844843	123844843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	aacgagacagaagttgcctgCactaggggagaagcggccag	15	9	0	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.chr10:123844843C>T	ENST00000369005.1	+	4	3168	c.2828C>T	c.(2827-2829)gCa>gTa	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_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000453444.2_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		Somatic				TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V	p.A943V	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	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	22	66	---	---	---	---	T	123844843	C	T	123844843	3	4	6	1	0	0	0	0	1	0	0	0	15499	710	25	2	2838	2	TACC2	10	123844843	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08	28444938	123844843	11689904	17	114										
USP35	57558	broad.mit.edu	37	chr11	77917055	77917055	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	acatgctatgtcaacagcatCcttcaggccttattcatggc	7	12	3	0			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_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000441408.2_Missense_Mutation_p.S40F|USP35_ENST00000530267.1_Silent_p.I23I	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			Somatic				USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000530535.1_Intron	p.S40F			WXS	Illumina GAIIx	Phase_I	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	5	298	---	---	---	---	T	77917055	C	T	77917055	2	4	6	1	0	0	0	0	0	0	0	1	17063	845	30	2		2	USP35	11	77917055	Silent	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		77917055	57089461	18	115										
WNK1	65125	broad.mit.edu	37	chr12	994555	994555	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	tggtagttagcgcacactcaCtagataagacatctcatagc	8	10	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.chr12:994555C>G	ENST00000315939.6	+	19	5228	c.4585C>G	c.(4585-4587)Cta>Gta	p.L1529V	WNK1_ENST00000537687.1_Missense_Mutation_p.L1789V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V	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		Somatic				WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V	p.L1789V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	WXS	Illumina GAIIx	Phase_I	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	64	166	---	---	---	---	G	994555	C	G	994555	3	3	6	1	0	0	0	0	1	0	0	0	17374	564	20	4	6161	4	WNK1	12	994555	Missense_Mutation	SNP	C	TCGA-2A-A8W3-01A-11D-A377-08		994555	132857340	19	116										
IL4R	3566	broad.mit.edu	37	chr16	27367221	27367221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	gcctgttgtgctatgtcagcAtcaccaagtgagtcctgggc	12	11	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.chr16:27367221A>C	ENST00000395762.2	+	8	1022	c.763A>C	c.(763-765)Atc>Ctc	p.I255L	IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000565915.1_3'UTR	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		Somatic				IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L	p.I255L	NM_000418.3	NP_000409.1	WXS	Illumina GAIIx	Phase_I	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	6	42	---	---	---	---	C	27367221	A	C	27367221	3	2	6	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	20	117										
EVPL	2125	broad.mit.edu	37	chr17	74006445	74006445	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	agcctctccaagggccgctgGgtcctcagctgcagcagttg	13	14	2	0			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			Somatic				EVPL_ENST00000586740.1_Silent_p.T969T	p.T947T	NM_001988.2	NP_001979.2	WXS	Illumina GAIIx	Phase_I	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	11	36	---	---	---	---	C	74006445	G	C	74006445	2	2	6	1	0	0	0	0	0	0	0	1	5292	1219	43	4		4	EVPL	17	74006445	Silent	SNP	G	TCGA-2A-A8W3-01A-11D-A377-08		74006445	7188765	21	118										
ZNF750	79755	broad.mit.edu	37	chr17	80790121	80790121	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ttggtttgcttggggtctagTgagttagatttagggcactt	14	4	1	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.chr17:80790121T>G	ENST00000269394.3	-	2	1043	c.210A>C	c.(208-210)tcA>tcC	p.S70S	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_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			Somatic				TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	p.S70S	NM_024702.2	NP_078978.2	WXS	Illumina GAIIx	Phase_I	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	21	86	---	---	---	---	G	80790121	T	G	80790121	2	3	6	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	22	119										
EPB41L3	23136	broad.mit.edu	37	chr18	5398057	5398057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	aagtagaagtaacccctcctAtgaattctgttggttttcgc	8	9	1	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.chr18:5398057A>G	ENST00000341928.2	-	17	2775	c.2435T>C	c.(2434-2436)aTa>aCa	p.I812T	EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|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	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		Somatic				EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T	p.I812T	NM_012307.2	NP_036439.2	WXS	Illumina GAIIx	Phase_I	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	38	163	---	---	---	---	G	5398057	A	G	5398057	3	3	6	1	0	0	0	0	1	0	0	0	5154	449	16	2	852	2	EPB41L3	18	5398057	Missense_Mutation	SNP	A	TCGA-2A-A8W3-01A-11D-A377-08		5398057	72679191	23	120										
PHACTR3	116154	broad.mit.edu	37	chr20	58348360	58348360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.720588235294118	0	0.900735294117647	1	1	0	ccacactcttccaagcctccAgcatgaagagtgccgaccct	7	17	1	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.chr20:58348360A>T	ENST00000371015.1	+	6	1245	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C	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		Somatic				PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C	p.S260C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	WXS	Illumina GAIIx	Phase_I	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	22	57	---	---	---	---	T	58348360	A	T	58348360	3	4	6	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		58348360	4677160	24	121										
SPEN	23013	broad.mit.edu	37	chr1	16257094	16257094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ttgcttgaaagagctaaatcCctctcttcatctcgtgaaga	7	10	3	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			Somatic					p.S1453S	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	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	66	163	---	---	---	---	T	16257094	C	T	16257094	2	4	7	1	0	0	0	0	0	0	0	1	15037	610	22	2		2	SPEN	1	16257094	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		16257094	232993527	1	122										
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958926	17958926	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gagcgtcgggtcttcctgctCaacgacatgcttgtctgtgc	12	12	3	0	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_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|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			Somatic				ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L	p.L565L	NM_018125.3	NP_060595	WXS	Illumina GAIIx	Phase_I	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	7	288	---	---	---	---	T	17958926	C	T	17958926	2	4	7	1	0	0	0	0	0	0	0	1	895	813	29	2		2	ARHGEF10L	1	17958926	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1701832	17958926	231291695	2	123										
NBPF3	84224	broad.mit.edu	37	chr1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tagccaccacccttgtgagtCcaaccagccttacgggaaca	8	15	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.chr1:21799965C>A	ENST00000318249.5	+	7	1177	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000318220.6_Missense_Mutation_p.S220Y	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		Somatic				NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y	p.S220Y			WXS	Illumina GAIIx	Phase_I	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	7	436	---	---	---	---	A	21799965	C	A	21799965	3	1	7	1	0	0	0	0	1	0	0	0	10197	855	30	3	849	3	NBPF3	1	21799965	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	3841039	21799965	227450656	3	124										
ZMYM4	9202	broad.mit.edu	37	chr1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ttcttctttttagatggccaAatgtgatgcttgtaagcgac	9	7	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.chr1:35855556A>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		Somatic				ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	p.K815R	NM_005095.2	NP_005086.2	WXS	Illumina GAIIx	Phase_I	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	24	87	---	---	---	---	G	35855556	A	G	35855556	3	3	7	1	0	0	0	0	1	0	0	0	17699	14	1	2	2502	2	ZMYM4	1	35855556	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	14055591	35855556	213395065	4	125										
NSUN4	387338	broad.mit.edu	37	chr1	46818651	46818651	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aaatcaagttcgagttacctCatgggatggcaggaaatggg	13	6	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.chr1:46818651C>A	ENST00000474844.1	+	4	1354	c.704C>A	c.(703-705)tCa>tAa	p.S235*	NSUN4_ENST00000536062.1_Nonsense_Mutation_p.S186*|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Nonsense_Mutation_p.S186*	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	235					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CGAGTTACCTCATGGGATGGC	0.517																																						ENST00000474844.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.(703-705)tCa>tAa		NOP2/Sun domain family, member 4							135	121	126					1																	46818651		2203	4300	6503	SO:0001587	stop_gained	387338						methyltransferase activity	g.chr1:46818651C>A	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.704C>A	1.37:g.46818651C>A	ENSP00000419740:p.Ser235*		Somatic				NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Nonsense_Mutation_p.S186*|NSUN4_ENST00000537428.1_Nonsense_Mutation_p.S186*	p.S235*	NM_199044.3	NP_950245.2	WXS	Illumina GAIIx	Phase_I	Q96CB9	NSUN4_HUMAN			4	1354	+	Acute lymphoblastic leukemia(166;0.155)		235					A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Nonsense_Mutation	SNP	ENST00000474844.1	37	c.704C>A	CCDS534.1	.	.	.	.	.	.	.	.	.	.	C	37	6.299219	0.97453	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	.	.	.	5.33	5.33	0.75918	.	0.189921	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.998	19.2206	0.93795	0.0:1.0:0.0:0.0	.	.	.	.	X	235;186;186	.	ENSP00000419740:S235X	S	+	2	0	NSUN4	46591238	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.741000	0.62095	2.777000	0.95525	0.591000	0.81541	TCA		0.517	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021427.1	NM_199044		4	201	4	201	---	---	---	---	A	46818651	C	A	46818651	4	1	7	1	0	0	0	0	0	1	0	0	10680	838	29	3	718	3	NSUN4	1	46818651	Nonsense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	10963095	46818651	202431970	5	126										
C1orf173	127254	broad.mit.edu	37	chr1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctttacttgtcatttcctccAcagcagttaccacttctttg	4	13	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.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E|RP4-612J11.1_ENST00000416017.1_RNA	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		Somatic				RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	p.V472E	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	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	9	495	---	---	---	---	T	75072359	A	T	75072359	3	4	7	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	28253708	75072359	174178262	6	127										
CDC7	8317	broad.mit.edu	37	chr1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aagaataacagcagaagaagCtttgttgcatccatttttta	7	6	0	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.chr1:91989955C>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		Somatic				CDC7_ENST00000430031.2_Missense_Mutation_p.A535D|CDC7_ENST00000234626.6_Missense_Mutation_p.A563D	p.A563D	NM_001134420.1	NP_001127892.1	WXS	Illumina GAIIx	Phase_I	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	14	263	---	---	---	---	A	91989955	C	A	91989955	3	1	7	1	0	0	0	0	1	0	0	0	3084	797	28	3	1730	3	CDC7	1	91989955	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	16917596	91989955	157260666	7	128										
ABCD3	5825	broad.mit.edu	37	chr1	94980700	94980700	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taaatcattttctttgtattAggttggcatcactctcttca	5	8	5	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.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000454898.2_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			Somatic				ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site		NM_002858.3	NP_002849.1	WXS	Illumina GAIIx	Phase_I	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	3	245	---	---	---	---	G	94980700	A	G	94980700	5	3	7	1	0	0	0	0	0	0	1	0	62	434	15	2	1961	2	ABCD3	1	94980700	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	2990745	94980700	154269921	8	129										
LRIG2	9860	broad.mit.edu	37	chr1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cctggcagaaagatggtggtActgactttcctgcggctcga	13	10	0	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.chr1:113655223A>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																																						ENST00000361127.5																			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		Somatic				LRIG2_ENST00000492207.1_3'UTR	p.T641A	NM_014813.1	NP_055628.1	WXS	Illumina GAIIx	Phase_I	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)				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	5	201	---	---	---	---	G	113655223	A	G	113655223	3	3	7	1	0	0	0	0	1	0	0	0	8945	391	14	2	1975	2	LRIG2	1	113655223	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	18674523	113655223	135595398	9	130										
OR10Z1	128368	broad.mit.edu	37	chr1	158576525	158576525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tcctatgtgggctgtgctgcCcagatgttcttttctgcctc	10	12	2	1	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			Somatic					p.A99A	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	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	107	396	---	---	---	---	T	158576525	C	T	158576525	2	4	7	1	0	0	0	0	0	0	0	1	10923	610	22	2		2	OR10Z1	1	158576525	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	44921302	158576525	90674096	10	131										
TOR1AIP2	163590	broad.mit.edu	37	chr1	179833985	179833985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aagattaactgtaatgcaggGttaaaaccagctactcgaga	9	7	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.chr1:179833985G>T	ENST00000553856.1	-	1	326	c.327C>A	c.(325-327)aaC>aaA	p.N109K	TOR1AIP2_ENST00000609928.1_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1	Q9H496	IFG15_HUMAN		109								p.N109K(2)									GTAATGCAGGGTTAAAACCAG	0.383																																						ENST00000553856.1																			2	Substitution - Missense(2)	p.N109K(2)	prostate(2)								c.(325-327)aaC>aaA									121	117	119					1																	179833985		1828	4085	5913	SO:0001583	missense	163590							g.chr1:179833985G>T																												ENST00000553856.1:c.327C>A	1.37:g.179833985G>T	ENSP00000452581:p.Asn109Lys		Somatic				TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron	p.N109K	NM_022347.3	NP_071742.1	WXS	Illumina GAIIx	Phase_I					1	326	-								Q05BU2	Missense_Mutation	SNP	ENST00000553856.1	37	c.327C>A	CCDS53439.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057345	0.36277	.	.	ENSG00000258664	ENST00000553856	.	.	.	4.79	3.87	0.44632	.	.	.	.	.	T	0.39118	0.1066	N	0.08118	0	0.80722	D	1	D	0.54772	0.968	P	0.59546	0.859	T	0.16512	-1.0400	7	.	.	.	.	8.3049	0.32036	0.1062:0.0:0.8938:0.0	.	109	Q9H496	.	K	109	.	.	N	-	3	2	AL359853.3	178100608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.886000	0.28241	1.598000	0.50083	0.655000	0.94253	AAC		0.383	IFRG15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	276	9	276	---	---	---	---	T	179833985	G	T	179833985	3	4	7	1	0	0	0	0	1	0	0	0	16370	1252	44	3	1501	3	TOR1AIP2	1	179833985	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	21257460	179833985	69416636	11	132										
NR5A2	2494	broad.mit.edu	37	chr1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cggagccaccctcaacaaccTcatgagtcatgcacaggagt	9	14	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.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P|NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P	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		Somatic				NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P|NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P	p.L427P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	WXS	Illumina GAIIx	Phase_I	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	3	209	---	---	---	---	C	200089985	T	C	200089985	3	2	7	1	0	0	0	0	1	0	0	0	10636	1551	54	2	1306	2	NR5A2	1	200089985	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	20256000	200089985	49160636	12	133										
IRF6	3664	broad.mit.edu	37	chr1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tggccattcttccccaaagcAtaagtagatctcaaacggtg	8	11	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.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	IRF6_ENST00000542854.1_Missense_Mutation_p.C279G|RP3-434O14.8_ENST00000430751.1_RNA	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)	Somatic				IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	p.C374G	NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	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	3	156	---	---	---	---	C	209963071	A	C	209963071	3	2	7	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	13	134										
LBR	3930	broad.mit.edu	37	chr1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gtgtatttttatgaggtgcgTcatttctctcaatatgctca	8	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.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		Somatic				LBR_ENST00000272163.4_Missense_Mutation_p.D143G	p.D143G	NM_194442.2	NP_919424.1	WXS	Illumina GAIIx	Phase_I	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	4	297	---	---	---	---	C	225607439	T	C	225607439	3	2	7	1	0	0	0	0	1	0	0	0	8652	1667	58	2	1463	2	LBR	1	225607439	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15644368	225607439	23643182	14	135										
REG3G	130120	broad.mit.edu	37	chr2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	actttgcatgggagaaaaatCcctccaccatcttaaaccct	5	13	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.chr2:79255008C>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		Somatic				REG3G_ENST00000393897.2_Missense_Mutation_p.P137A|REG3G_ENST00000409471.1_Missense_Mutation_p.P91A	p.P137A	NM_001008387.2	NP_001008388.1	WXS	Illumina GAIIx	Phase_I	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	70	183	---	---	---	---	G	79255008	C	G	79255008	3	3	7	1	0	0	0	0	1	0	0	0	13213	855	30	4	423	4	REG3G	2	79255008	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		79255008	163944365	15	136										
ZC3H6	376940	broad.mit.edu	37	chr2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aattaggccacagtacagtgAtccaaggcaggcaaggcagc	12	10	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.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	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		Somatic				ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	p.D1147G	NM_198581.2	NP_940983.2	WXS	Illumina GAIIx	Phase_I	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	6	149	---	---	---	---	G	113089935	A	G	113089935	3	3	7	1	0	0	0	0	1	0	0	0	17568	333	12	2	3486	2	ZC3H6	2	113089935	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	33834927	113089935	130109438	16	137										
GYPC	2995	broad.mit.edu	37	chr2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tggtgatagcagcagaaaggAgtactttatttgagggacaa	13	4	0	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.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000356887.7_Missense_Mutation_p.E104V	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		Somatic				GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000464053.1_3'UTR	p.E125V	NM_002101.4	NP_002092.1	WXS	Illumina GAIIx	Phase_I	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	14	76	---	---	---	---	T	127453705	A	T	127453705	3	4	7	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	17	138										
ACVR1C	130399	broad.mit.edu	37	chr2	158401075	158401075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aaatagtcatataaggagccCtgttcatgatattcagatac	7	7	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.chr2:158401075C>A	ENST00000243349.8	-	5	1185	c.825G>T	c.(823-825)caG>caT	p.Q275H	ACVR1C_ENST00000348328.5_Missense_Mutation_p.Q118H|ACVR1C_ENST00000335450.7_Missense_Mutation_p.Q195H|ACVR1C_ENST00000409680.3_Missense_Mutation_p.Q225H	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						ATAAGGAGCCCTGTTCATGAT	0.383																																						ENST00000243349.8																			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.(823-825)caG>caT		activin A receptor, type IC							83	84	83					2																	158401075		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.chr2:158401075C>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.825G>T	2.37:g.158401075C>A	ENSP00000243349:p.Gln275His		Somatic				ACVR1C_ENST00000409680.3_Missense_Mutation_p.Q225H|ACVR1C_ENST00000335450.7_Missense_Mutation_p.Q195H|ACVR1C_ENST00000348328.5_Missense_Mutation_p.Q118H	p.Q275H	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	WXS	Illumina GAIIx	Phase_I	Q8NER5	ACV1C_HUMAN			5	1185	-						Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.825G>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	1.056	-0.674216	0.03378	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.08	1.3	0.21679	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.126274	0.35970	N	0.002876	T	0.77046	0.4073	N	0.01209	-0.955	0.44966	D	0.997983	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.006;0.002;0.001	T	0.62167	-0.6911	10	0.13108	T	0.6	.	9.125	0.36810	0.0:0.627:0.0:0.373	.	118;195;275	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	H	275;225;118;195	ENSP00000243349:Q275H;ENSP00000387168:Q225H;ENSP00000335139:Q118H;ENSP00000335178:Q195H	ENSP00000243349:Q275H	Q	-	3	2	ACVR1C	158109321	0.718000	0.27976	0.997000	0.53966	0.974000	0.67602	-0.133000	0.10451	0.029000	0.15352	0.585000	0.79938	CAG		0.383	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		4	171	4	171	---	---	---	---	A	158401075	C	A	158401075	3	1	7	1	0	0	0	0	1	0	0	0	222	680	24	1	676	1	ACVR1C	2	158401075	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	30947370	158401075	84798298	18	139										
HOXD3	3232	broad.mit.edu	37	chr2	177034058	177034058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tctgcctgctccatccagagCtctgcccctctgagagcccc	8	19	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.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			Somatic				HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S	p.S72S			WXS	Illumina GAIIx	Phase_I	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	36	101	---	---	---	---	T	177034058	C	T	177034058	2	4	7	1	0	0	0	0	0	0	0	1	7323	796	28	2		2	HOXD3	2	177034058	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	18632983	177034058	66165315	19	140										
TNS1	7145	broad.mit.edu	37	chr2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gagcagtcctggctcgatggTgatgcagacgctagtctggc	15	10	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.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000419504.1_Missense_Mutation_p.T235A|TNS1_ENST00000430930.1_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		Somatic				TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	p.T235A	NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	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	6	145	---	---	---	---	C	218750505	T	C	218750505	3	2	7	1	0	0	0	0	1	0	0	0	16340	1696	59	2	4588	2	TNS1	2	218750505	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	41716447	218750505	24448868	20	141										
KLHL2	11275	broad.mit.edu	37	chr4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aggatgtgaggcaagagtttAtggcccgactgatggaacat	14	6	0	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.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000509028.1_3'UTR	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		Somatic				KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L	p.M238L	NM_007246.3	NP_009177.3	WXS	Illumina GAIIx	Phase_I	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	4	174	---	---	---	---	C	166218818	A	C	166218818	3	2	7	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		166218818	24935458	21	142										
CDH12	1010	broad.mit.edu	37	chr5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cattgtgtttgtgctgctctGgacagggtagctgctgtctt	13	8	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.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*|CDH12_ENST00000521384.1_5'UTR	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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	207	---	---	---	---	A	21755850	G	A	21755850	4	1	7	1	0	0	0	0	0	1	0	0	3098	1357	47	2	657	2	CDH12	5	21755850	Nonsense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		21755850	159159410	22	143										
MTMR12	54545	broad.mit.edu	37	chr5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cacccaagaaggcaatcttgAagtctgtgcagacaagcctc	9	12	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.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_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		Somatic				MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C	p.F80C	NM_001040446.1	NP_001035536.1	WXS	Illumina GAIIx	Phase_I	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	12	310	---	---	---	---	C	32274132	A	C	32274132	3	2	7	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	10518282	32274132	148641128	23	144										
SKIV2L2	23517	broad.mit.edu	37	chr5	54635836	54635836	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ttatttgttttcacatttgtAggtatgccattgcattggcc	8	7	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.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			Somatic				SKIV2L2_ENST00000545714.1_Splice_Site		NM_015360.4	NP_056175.3	WXS	Illumina GAIIx	Phase_I	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	25	120	---	---	---	---	G	54635836	A	G	54635836	5	3	7	1	0	0	0	0	0	0	1	0	14360	434	15	2	536	2	SKIV2L2	5	54635836	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	22361704	54635836	126279424	24	145										
ARSB	411	broad.mit.edu	37	chr5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cttctctggtggatggttagTtatgagggctatagcccttt	12	7	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.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		Somatic				ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P	p.T224P	NM_000046.3	NP_000037.2	WXS	Illumina GAIIx	Phase_I	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	3	191	---	---	---	---	G	78260259	T	G	78260259	3	3	7	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	25	146										
SNCAIP	9627	broad.mit.edu	37	chr5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	accatcctcacctgcctccaGaaagtcccagtggaaatctc	6	16	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.chr5:121786251G>T	ENST00000261368.8	+	10	1971	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R617I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|CTC-210G5.1_ENST00000510972.1_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		Somatic				SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I|CTC-210G5.1_ENST00000503529.1_RNA	p.R617I			WXS	Illumina GAIIx	Phase_I	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	11	348	---	---	---	---	T	121786251	G	T	121786251	3	4	7	1	0	0	0	0	1	0	0	0	14841	942	33	3	1743	3	SNCAIP	5	121786251	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	43525992	121786251	59129009	26	147										
MATR3	9782	broad.mit.edu	37	chr5	138643657	138643657	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gggaagaaaaaaggcactttAgaagagatagttttgatgat	12	2	0	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_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394800.2_Silent_p.R185R|MATR3_ENST00000361059.2_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			Somatic				MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R	p.R185R			WXS	Illumina GAIIx	Phase_I	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	5	143	---	---	---	---	C	138643657	A	C	138643657	2	2	7	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	27	148										
SH3TC2	79628	broad.mit.edu	37	chr5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taccatgttgctggacagagGccactgcaaggtgtggaaga	14	8	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.chr5:148407223G>A	ENST00000515425.1	-	11	2173	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A238V	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		Somatic				SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V	p.A238V			WXS	Illumina GAIIx	Phase_I	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	49	176	---	---	---	---	A	148407223	G	A	148407223	3	1	7	1	0	0	0	0	1	0	0	0	14262	1203	42	2	1822	2	SH3TC2	5	148407223	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	9763566	148407223	32508037	28	149										
FAT2	2196	broad.mit.edu	37	chr5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-													0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	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)tggfs		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		Somatic					p.W4167fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	7	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	29	150										
ATP10B	23120	broad.mit.edu	37	chr5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	accaagtaaggtgagttgatTctccagatgctgtgcagttt	11	7	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.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		Somatic				CTC-348L5.1_ENST00000523598.1_RNA	p.N879H	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	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	114	173	---	---	---	---	G	160042863	T	G	160042863	3	3	7	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	30	151										
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cgcctggctcattacaacaaGcgttcgaccatcacctccag	7	16	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.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		Somatic					p.K86N	NM_003524.2	NP_003515.1	WXS	Illumina GAIIx	Phase_I	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	15	167	---	---	---	---	T	26252136	G	T	26252136	3	4	7	1	0	0	0	0	1	0	0	0	7147	962	34	3	260	3	HIST1H2BH	6	26252136	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		26252136	144862931	31	152										
BTN3A1	11119	broad.mit.edu	37	chr6	26407900	26407900	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctaattcatccttccacagcActgggttctgatcttcacgt	6	13	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.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.435A>T	c.(433-435)gcA>gcT	p.A145A	BTN3A1_ENST00000425234.2_Splice_Site_p.A145A|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A|BTN3A1_ENST00000414912.2_Intron	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.(433-435)gcA>gcT		butyrophilin, subfamily 3, member A1							85	74	78					6																	26407900		2203	4300	6503	SO:0001630	splice_region_variant	11119				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			Somatic				BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Splice_Site_p.A145A|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A	p.A145A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	WXS	Illumina GAIIx	Phase_I	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.435A>T	CCDS4608.1																																																																																				0.473	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		Silent	4	111	4	111	---	---	---	---	T	26407900	A	T	26407900	5	4	7	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	32	153										
ROS1	6098	broad.mit.edu	37	chr6	117663708	117663708	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gctatactgtcctgaaattcCtgtaattgattttttaaaaa	5	6	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.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	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			Somatic				ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron		NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	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	14	46	---	---	---	---	A	117663708	C	A	117663708	5	1	7	1	0	0	0	0	0	0	1	0	13531	695	24	1	2583	1	ROS1	6	117663708	Splice_Site	SNP	C	TCGA-CH-5737-01A-11D-1576-08	91255808	117663708	53451359	33	154										
ABCB5	340273	broad.mit.edu	37	chr7	20685387	20685387	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ggtttattacagatggtcatCtcattgaccagtaaggaatt	9	6	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.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I	ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000258738.6_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			Somatic					p.I229I	NM_001163941.1	NP_001157413.1	WXS	Illumina GAIIx	Phase_I	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	4	231	---	---	---	---	T	20685387	C	T	20685387	2	4	7	1	0	0	0	0	0	0	0	1	44	903	32	2		2	ABCB5	7	20685387	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		20685387	138453276	34	155										
SUMF2	25870	broad.mit.edu	37	chr7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ccgtgcctactgtgcttggcGgggaaaacgactgcccacgg	14	13	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.chr7:56142370G>A	ENST00000413756.1	+	5	499	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.R178Q|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron			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		Somatic	OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron	p.R178Q	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	WXS	Illumina GAIIx	Phase_I	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	5	226	---	---	---	---	A	56142370	G	A	56142370	3	1	7	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	35	156										
SEMA3D	223117	broad.mit.edu	37	chr7	84694822	84694822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	agggatcgagtgaatgcagtAtctttgccaaggaaatcaga	12	6	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.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			Somatic				SEMA3D_ENST00000444867.1_Silent_p.D212D	p.D212D	NM_152754.2	NP_689967.2	WXS	Illumina GAIIx	Phase_I	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	6	95	---	---	---	---	G	84694822	A	G	84694822	2	3	7	1	0	0	0	0	0	0	0	1	14027	446	16	2		2	SEMA3D	7	84694822	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	28552452	84694822	74443841	36	157										
PON2	5445	broad.mit.edu	37	chr7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taatcaggtggcagtgtggaAggtctacagattctacttct	11	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.chr7:95053856A>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		Somatic				PON2_ENST00000433091.2_Missense_Mutation_p.L39P|PON2_ENST00000222572.3_Missense_Mutation_p.L39P	p.L60P	NM_000305.2	NP_000296.2	WXS	Illumina GAIIx	Phase_I	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	16	183	---	---	---	---	G	95053856	A	G	95053856	3	3	7	1	0	0	0	0	1	0	0	0	12249	72	3	2	980	2	PON2	7	95053856	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	10359034	95053856	64084807	37	158										
PAXIP1	22976	broad.mit.edu	37	chr7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tgggaaggccactgggaagtGaagggctcggtgcggcggta	20	7	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.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y|PAXIP1_ENST00000473219.1_5'UTR			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		Somatic				PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y	p.H694Y			WXS	Illumina GAIIx	Phase_I	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	5	163	---	---	---	---	A	154754078	G	A	154754078	3	1	7	1	0	0	0	0	1	0	0	0	11487	1290	45	2	1177	2	PAXIP1	7	154754078	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	59700222	154754078	4384585	38	159										
MPDZ	8777	broad.mit.edu	37	chr9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ttcttacctgggccatatttTtgataagctgatcaaattca	6	8	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.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_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		Somatic				MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_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	p.K127T	NM_001261406.1	NP_001248335.1	WXS	Illumina GAIIx	Phase_I	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	53	207	---	---	---	---	G	13224386	T	G	13224386	3	3	7	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	39	160										
MSMP	692094	broad.mit.edu	37	chr9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	actcacccagggtaaaatatTtcccctcatagtgacagggg	9	11	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.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	MSMP_ENST00000414286.1_5'UTR|RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'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		Somatic				RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	p.K51T	NM_001044264.2	NP_001037729.1	WXS	Illumina GAIIx	Phase_I	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	9	60	---	---	---	---	G	35753744	T	G	35753744	3	3	7	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	22529358	35753744	105459687	40	161										
VPS13A	23230	broad.mit.edu	37	chr9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctattgtttgtcaaattgatAcagtagaaggaagtaagaag	10	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.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_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000357409.5_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		Somatic				VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A	p.T1983A	NM_033305.2	NP_150648.2	WXS	Illumina GAIIx	Phase_I	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	3	186	---	---	---	---	G	79938099	A	G	79938099	3	3	7	1	0	0	0	0	1	0	0	0	17186	391	14	2	6125	2	VPS13A	9	79938099	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	44184355	79938099	61275332	41	162										
SNX30	401548	broad.mit.edu	37	chr9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tatgttgtcgttccagtgccTcatggcgtgggagtcgatta	13	8	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.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		Somatic				SNX30_ENST00000604751.1_Intron	p.L420P	NM_001012994.1	NP_001013012.1	WXS	Illumina GAIIx	Phase_I	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	3	195	---	---	---	---	C	115631068	T	C	115631068	3	2	7	1	0	0	0	0	1	0	0	0	14900	1551	54	2	1293	2	SNX30	9	115631068	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	35692969	115631068	25582363	42	163										
GOLGA2	2801	broad.mit.edu	37	chr9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cctttgagattctccgcataTttatctctctccatttgtag	5	11	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.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		Somatic				GOLGA2_ENST00000609374.1_Missense_Mutation_p.K383N	p.K395N	NM_004486.4	NP_004477.3	WXS	Illumina GAIIx	Phase_I	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	9	217	---	---	---	---	A	131023799	T	A	131023799	3	1	7	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	43	164										
ARID5B	84159	broad.mit.edu	37	chr10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gacatgttcaaagacaaagaCctgactgggcccatgaacga	10	10	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.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		Somatic				ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	p.D661E	NM_032199.2	NP_115575.1	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	G	63851205	C	G	63851205	3	3	7	1	0	0	0	0	1	0	0	0	922	506	18	4	2021	4	ARID5B	10	63851205	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		63851205	71683542	44	165										
CBARA1	10367	broad.mit.edu	37	chr10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aaagagtgcaaacaccacatCacacacgtggtctgagagct	9	11	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.chr10:74135571C>G	ENST00000361114.5	-	11	1336	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000398761.4_Missense_Mutation_p.D416H	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		Somatic				MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H	p.D416H			WXS	Illumina GAIIx	Phase_I	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	6	22	---	---	---	---	G	74135571	C	G	74135571	3	3	7	1	0	0	0	0	1	0	0	0	2696	826	29	4	198	4	CBARA1	10	74135571	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	10284366	74135571	61399176	45	166										
PTEN	5728	broad.mit.edu	37	chr10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taagtgaagatgacaatcatGttgcagcaattcactgtaaa	8	6	2	3	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)	Somatic					p.V119F	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	58	83	---	---	---	---	T	89692871	G	T	89692871	3	4	7	1	0	0	0	0	1	0	0	0	12738	1377	48	3	373	3	PTEN	10	89692871	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	15557300	89692871	45841876	46	167										
CCDC147	159686	broad.mit.edu	37	chr10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aagaaatccagcaacgtcagAacgaagcttcccgggagttc	10	11	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.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		Somatic				CCDC147_ENST00000312902.5_5'UTR	p.N209H	NM_001008723.1	NP_001008723.1	WXS	Illumina GAIIx	Phase_I	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	4	86	---	---	---	---	C	106125599	A	C	106125599	3	2	7	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	47	168										
OR5T1	390155	broad.mit.edu	37	chr11	56043918	56043918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	atttatcatgggacaatcctCttcatgtatgtgagaccaag	8	8	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.chr11:56043918C>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			Somatic					p.L268L	NM_001004745.1	NP_001004745.1	WXS	Illumina GAIIx	Phase_I	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	165	329	---	---	---	---	T	56043918	C	T	56043918	2	4	7	1	0	0	0	0	0	0	0	1	11181	900	32	2		2	OR5T1	11	56043918	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		56043918	78962598	48	169										
VWCE	220001	broad.mit.edu	37	chr11	61034970	61034970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	agacatgggtccagcacagaCgggaaggtctcgttgttata	13	8	1	2	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			Somatic				VWCE_ENST00000535710.1_Silent_p.P108P	p.P643P	NM_152718.2	NP_689931.2	WXS	Illumina GAIIx	Phase_I	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	40	83	---	---	---	---	T	61034970	C	T	61034970	2	4	7	1	0	0	0	0	0	0	0	1	17242	523	19	2		2	VWCE	11	61034970	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4991052	61034970	73971546	49	170										
FERMT3	83706	broad.mit.edu	37	chr11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gccgcgcactgcgcctccgtGccagcttctcccagcccctc	9	22	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.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		Somatic				FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	p.A114S	NM_178443.2	NP_848537.1	WXS	Illumina GAIIx	Phase_I	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	6	192	---	---	---	---	T	63978262	G	T	63978262	3	4	7	1	0	0	0	0	1	0	0	0	5819	1319	46	3	346	3	FERMT3	11	63978262	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	2943292	63978262	71028254	50	171										
TIGD3	220359	broad.mit.edu	37	chr11	65123663	65123663	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ggctggctggtccgctggaaAcgccgaaacaacgtcggctt	14	12	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.chr11:65123663A>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			Somatic					p.K128K	NM_145719.2	NP_663771.1	WXS	Illumina GAIIx	Phase_I	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	7	62	---	---	---	---	G	65123663	A	G	65123663	2	3	7	1	0	0	0	0	0	0	0	1	15894	40	2	2		2	TIGD3	11	65123663	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	1145401	65123663	69882853	51	172										
DPP3	10072	broad.mit.edu	37	chr11	66259193	66259193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	atcgggttcatcgagagctaCcgcgacccctttggttcccg	11	14	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.chr11:66259193C>T	ENST00000360510.2	+	9	1019	c.954C>T	c.(952-954)taC>taT	p.Y318Y	DPP3_ENST00000453114.1_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000532677.1_Silent_p.Y337Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000541961.1_Silent_p.Y318Y			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			Somatic				DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|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	WXS	Illumina GAIIx	Phase_I	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	6	390	---	---	---	---	T	66259193	C	T	66259193	2	4	7	1	0	0	0	0	0	0	0	1	4728	518	18	2		2	DPP3	11	66259193	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1135530	66259193	68747323	52	173										
KIF5A	3798	broad.mit.edu	37	chr12	57962799	57962799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gacgaggcaaagaatatcaaCaagtcactgtcagctctggg	11	9	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.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			Somatic				KIF5A_ENST00000286452.5_Silent_p.N167N	p.N256N	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	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	16	97	---	---	---	---	T	57962799	C	T	57962799	2	4	7	1	0	0	0	0	0	0	0	1	8305	477	17	2		2	KIF5A	12	57962799	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		57962799	75889096	53	174										
HELB	92797	broad.mit.edu	37	chr12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ggtcgagtccgtacctgcgcCaacttcagggacctctgctc	11	15	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.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		Somatic					p.Q10K	NM_033647.3	NP_387467.2	WXS	Illumina GAIIx	Phase_I	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	6	116	---	---	---	---	A	66696411	C	A	66696411	3	1	7	1	0	0	0	0	1	0	0	0	7045	595	21	1	30	1	HELB	12	66696411	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	8733612	66696411	67155484	54	175										
RNF31	55072	broad.mit.edu	37	chr14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	GA	-													0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	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|RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs|RP11-468E2.4_ENST00000558468.1_Frame_Shift_Del_p.N147fs	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)aggaacfs																																						SO:0001589	frameshift_variant	10379							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		Somatic				RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.N672fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.N521fs	p.N147fs			WXS	Illumina GAIIx	Phase_I					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	7	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	55	176										
GZMH	2999	broad.mit.edu	37	chr14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ccctggcttcacctgggcctTgctgctaggtagcctgagag	13	13	1	1	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	RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000557736.1_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		Somatic				GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	p.K133Q	NM_033423.4	NP_219491.1	WXS	Illumina GAIIx	Phase_I	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	7	116	---	---	---	---	G	25076555	T	G	25076555	3	3	7	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	56	177										
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-													0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	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)gagaacggc>ggc		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		Somatic				FOXA1_ENST00000540786.1_In_Frame_Del_p.EN222del|FOXA1_ENST00000545425.2_5'UTR	p.EN255del	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	7	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	12984665	38061220	69288320	57	178										
OTX2	5015	broad.mit.edu	37	chr14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tccctgggtggaaagagaagCtggggactgattgagatggc	17	6	0	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.chr14:57268617C>G	ENST00000555006.1	-	4	1114	c.706G>C	c.(706-708)Gct>Cct	p.A236P	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000339475.5_Missense_Mutation_p.A244P|OTX2_ENST00000554788.1_3'UTR			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	66	128	---	---	---	---	G	57268617	C	G	57268617	3	3	7	1	0	0	0	0	1	0	0	0	11321	797	28	4	167	4	OTX2	14	57268617	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	19207397	57268617	50080923	58	179										
KIAA1409	57578	broad.mit.edu	37	chr14	94060090	94060090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tggcagtccctcttctcctcCatgccctgtcacttcctcat	5	18	4	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.chr14:94060090C>A	ENST00000393151.2	+	23	3097	c.3097C>A	c.(3097-3099)Cat>Aat	p.H1033N	UNC79_ENST00000555664.1_Missense_Mutation_p.H1033N|UNC79_ENST00000553484.1_Missense_Mutation_p.H1033N|UNC79_ENST00000256339.4_Missense_Mutation_p.H856N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1033					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.H856N(1)|p.H1033N(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						TCTTCTCCTCCATGCCCTGTC	0.493																																						ENST00000553484.1																			2	Substitution - Missense(2)	p.H856N(1)|p.H1033N(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.(3097-3099)Cat>Aat		unc-79 homolog (C. elegans)							236	200	212					14																	94060090		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94060090C>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.3097C>A	14.37:g.94060090C>A	ENSP00000376858:p.His1033Asn		Somatic				UNC79_ENST00000256339.4_Missense_Mutation_p.H856N|UNC79_ENST00000555664.1_Missense_Mutation_p.H1033N|UNC79_ENST00000393151.2_Missense_Mutation_p.H1033N	p.H1033N			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			23	3251	+			1033					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3097C>A		.	.	.	.	.	.	.	.	.	.	C	16.49	3.137096	0.56936	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.53	4.63	0.57726	.	0.060525	0.64402	D	0.000012	T	0.28830	0.0715	L	0.54323	1.7	0.43259	D	0.995197	P	0.45396	0.857	B	0.37601	0.254	T	0.19516	-1.0303	10	0.87932	D	0	-18.4729	13.7622	0.62973	0.0:0.9264:0.0:0.0736	.	1033	C9JQL1	.	N	856;1033;1033;1033;1033	ENSP00000256339:H856N;ENSP00000450868:H1033N;ENSP00000451360:H1033N;ENSP00000376858:H1033N	ENSP00000256339:H856N	H	+	1	0	KIAA1409	93129843	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.081000	0.71309	2.617000	0.88574	0.557000	0.71058	CAT		0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	279	5	279	---	---	---	---	A	94060090	C	A	94060090	3	1	7	1	0	0	0	0	1	0	0	0	8230	594	21	1	2644	1	KIAA1409	14	94060090	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	36791473	94060090	13289450	59	180										
TYRO3	7301	broad.mit.edu	37	chr15	41865931	41865931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cacgtgggcagacgccatatGctggcatcgaaaacgctgag	13	11	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.chr15:41865931G>T	ENST00000263798.3	+	18	2424	c.2200G>T	c.(2200-2202)Gct>Tct	p.A734S	TYRO3_ENST00000559066.1_Missense_Mutation_p.A689S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)		GACGCCATATGCTGGCATCGA	0.562																																						ENST00000263798.3																			0				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.(2200-2202)Gct>Tct		TYRO3 protein tyrosine kinase							105	102	103					15																	41865931		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.chr15:41865931G>T	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.2200G>T	15.37:g.41865931G>T	ENSP00000263798:p.Ala734Ser		Somatic				TYRO3_ENST00000559066.1_Missense_Mutation_p.A689S	p.A734S	NM_006293.3	NP_006284.2	WXS	Illumina GAIIx	Phase_I	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)	18	2424	+		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)	734			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2200G>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821898	0.71028	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82619	-1.63	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42294	D	0.000740	D	0.86297	0.5899	L	0.28344	0.845	0.58432	D	0.999997	D	0.76494	0.999	D	0.69479	0.964	D	0.88012	0.2763	10	0.72032	D	0.01	-10.6829	19.1858	0.93644	0.0:0.0:1.0:0.0	.	734	Q06418	TYRO3_HUMAN	S	666;734	ENSP00000263798:A734S	ENSP00000263798:A734S	A	+	1	0	TYRO3	39653223	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	6.990000	0.76225	2.531000	0.85337	0.655000	0.94253	GCT		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			4	189	4	189	---	---	---	---	T	41865931	G	T	41865931	3	4	7	1	0	0	0	0	1	0	0	0	16811	1319	46	3	2270	3	TYRO3	15	41865931	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		41865931	60665461	60	181										
TLN2	83660	broad.mit.edu	37	chr15	62978869	62978869	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aaaggcaagaacaagctggtGcctcgcctgctggggatcac	13	11	1	1	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	TLN2_ENST00000306829.6_Silent_p.V329V|RP11-625H11.2_ENST00000559589.1_RNA			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			Somatic				RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V	p.V329V			WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	T	62978869	G	T	62978869	2	4	7	1	0	0	0	0	0	0	0	1	15945	1306	46	3		3	TLN2	15	62978869	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	21112938	62978869	39552523	61	182										
LRRK1	79705	broad.mit.edu	37	chr15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cctggagaacagcaagctggAgcacagcgaggacgagggca	16	10	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.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		Somatic				RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G	p.E1236G			WXS	Illumina GAIIx	Phase_I	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	3	60	---	---	---	---	G	101593153	A	G	101593153	3	3	7	1	0	0	0	0	1	0	0	0	9032	304	11	2	3810	2	LRRK1	15	101593153	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	38614284	101593153	938239	62	183										
BTBD12	84464	broad.mit.edu	37	chr16	3640681	3640681	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tctccctgagttgatgagaaGagctgttcgtaatccccggc	11	11	1	4	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			Somatic					p.L986L	NM_032444.2	NP_115820.2	WXS	Illumina GAIIx	Phase_I	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	7	180	---	---	---	---	A	3640681	G	A	3640681	2	1	7	1	0	0	0	0	0	0	0	1	1540	929	33	2		2	BTBD12	16	3640681	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08		3640681	86714072	63	184										
SMG1	23049	broad.mit.edu	37	chr16	18866183	18866183	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctagcaaattttgctgctgtTagacctaattccatgagatg	8	8	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.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			Somatic				SMG1_ENST00000389467.3_Silent_p.L1426L	p.L1426L			WXS	Illumina GAIIx	Phase_I	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	6	257	---	---	---	---	C	18866183	T	C	18866183	2	2	7	1	0	0	0	0	0	0	0	1	14795	1741	61	2		2	SMG1	16	18866183	Silent	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15225502	18866183	71488570	64	185										
PDILT	204474	broad.mit.edu	37	chr16	20370791	20370791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gtcatgttctccagctcaggCgactgctgttcaggtaaccc	10	13	4	0	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			Somatic					p.S535S	NM_174924.1	NP_777584.1	WXS	Illumina GAIIx	Phase_I	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	12	468	---	---	---	---	T	20370791	C	T	20370791	2	4	7	1	0	0	0	0	0	0	0	1	11674	755	27	2		2	PDILT	16	20370791	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1504608	20370791	69983962	65	186										
GNAO1	2775	broad.mit.edu	37	chr16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tttctgccatgatgcggctcTggggcgactcaggaatccaa	12	11	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.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		Somatic				GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	p.W132R	NM_138736.2	NP_620073.2	WXS	Illumina GAIIx	Phase_I	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	16	91	---	---	---	---	C	56362633	T	C	56362633	3	2	7	1	0	0	0	0	1	0	0	0	6508	1580	55	2	408	2	GNAO1	16	56362633	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	35991842	56362633	33992120	66	187										
KCNH4	23415	broad.mit.edu	37	chr17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gaggataaggccgtcccagaTggccttggagacgctgtagt	15	9	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.chr17:40328219T>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		Somatic				KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	p.I228L	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	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	3	230	---	---	---	---	G	40328219	T	G	40328219	3	3	7	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	67	188										
KIF2B	84643	broad.mit.edu	37	chr17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cccccgcccttatcccccttGgctctggcgccctcttcggc	8	22	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.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		Somatic					p.L98F	NM_032559.4	NP_115948.4	WXS	Illumina GAIIx	Phase_I	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	6	260	---	---	---	---	T	51900688	G	T	51900688	3	4	7	1	0	0	0	0	1	0	0	0	8298	1339	47	1	296	1	KIF2B	17	51900688	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	11572469	51900688	29294522	68	189										
TRIM25	7706	broad.mit.edu	37	chr17	54969322	54969322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	acgcaccaggaggcgctgttGcggccgagcctgctttctgg	15	13	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.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	TRIM25_ENST00000537230.1_Silent_p.R544R|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank|RP11-670E13.5_ENST00000574826.1_RNA	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			Somatic				TRIM25_ENST00000537230.1_Silent_p.R544R	p.R544R	NM_005082.4	NP_005073.2	WXS	Illumina GAIIx	Phase_I	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	37	94	---	---	---	---	A	54969322	G	A	54969322	2	1	7	1	0	0	0	0	0	0	0	1	16496	1306	46	2		2	TRIM25	17	54969322	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	3068634	54969322	26225888	69	190										
FSCN2	25794	broad.mit.edu	37	chr17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tggaggagagtcacccacagGtggtgctggtggctgccaac	16	10	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.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L|RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA	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		Somatic				FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	T	79496338	G	T	79496338	3	4	7	1	0	0	0	0	1	0	0	0	6068	1261	44	3	783	3	FSCN2	17	79496338	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	24527016	79496338	1698872	70	191										
PSMA8	143471	broad.mit.edu	37	chr18	23759096	23759096	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aagaaatcaacctttgaaggTaagtcattaaccaaagagga	8	6	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.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		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	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			Somatic				PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site		NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	WXS	Illumina GAIIx	Phase_I	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	3	172	---	---	---	---	C	23759096	T	C	23759096	5	2	7	1	0	0	0	0	0	0	1	0	12673	1652	57	2	702	2	PSMA8	18	23759096	Splice_Site	SNP	T	TCGA-CH-5737-01A-11D-1576-08		23759096	54318152	71	192										
UNC13A	23025	broad.mit.edu	37	chr19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctaagggtagctcaaagcgcGtgtccaggaggatgcggtgg	17	8	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.chr19:17780382G>A	ENST00000519716.2	-	5	373	c.374C>T	c.(373-375)aCg>aTg	p.T125M	UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T213M	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		Somatic				UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M	p.T213M			WXS	Illumina GAIIx	Phase_I	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	3	64	---	---	---	---	A	17780382	G	A	17780382	3	1	7	1	0	0	0	0	1	0	0	0	16981	1145	40	2	4889	2	UNC13A	19	17780382	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		17780382	41348601	72	193										
ZNF676	163223	broad.mit.edu	37	chr19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ttgtcatatcttctcaatatCattttttggaaagaatcttc	4	7	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.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		Somatic					p.M66I	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	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	5	148	---	---	---	---	T	22364321	C	T	22364321	3	4	7	1	0	0	0	0	1	0	0	0	18080	826	29	2	1572	2	ZNF676	19	22364321	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4583939	22364321	36764662	73	194										
ZNF98	148198	broad.mit.edu	37	chr19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aggtgatcaggtctggcttaGaggcagcaatacctgtttta	12	7	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.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		Somatic				ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	p.S57Y	NM_001098626.1	NP_001092096.1	WXS	Illumina GAIIx	Phase_I	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	34	130	---	---	---	---	T	22585674	G	T	22585674	3	4	7	1	0	0	0	0	1	0	0	0	18200	942	33	3	1556	3	ZNF98	19	22585674	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	221353	22585674	36543309	74	195										
ZNF492	57615	broad.mit.edu	37	chr19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taaaacaggtattgctgcctCtaagccagacctgatcacct	7	12	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.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		Somatic					p.S16Y	NM_020855.2	NP_065906.1	WXS	Illumina GAIIx	Phase_I	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	14	151	---	---	---	---	A	22836734	C	A	22836734	3	1	7	1	0	0	0	0	1	0	0	0	17940	913	32	3	53	3	ZNF492	19	22836734	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	251060	22836734	36292249	75	196										
ZNF536	9745	broad.mit.edu	37	chr19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gcaaagcttctctgttcatcAggccagacatcctgaggggg	12	11	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.chr19:31039026A>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		Somatic					p.R834G	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	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	5	225	---	---	---	---	G	31039026	A	G	31039026	3	3	7	1	0	0	0	0	1	0	0	0	17971	179	7	2	2510	2	ZNF536	19	31039026	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	8202292	31039026	28089957	76	197										
GPI	2821	broad.mit.edu	37	chr19	34887247	34887247	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	aaatacatcaccaaatctggAacccgtgtggaccaccagac	7	13	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.chr19:34887247A>G	ENST00000356487.5	+	13	1345	c.1104A>G	c.(1102-1104)ggA>ggG	p.G368G	GPI_ENST00000586425.1_Silent_p.G368G|GPI_ENST00000415930.3_Silent_p.G379G	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			Somatic				GPI_ENST00000356487.5_Silent_p.G368G|GPI_ENST00000586425.1_Silent_p.G368G	p.G379G	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	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	4	209	---	---	---	---	G	34887247	A	G	34887247	2	3	7	1	0	0	0	0	0	0	0	1	6611	233	9	2		2	GPI	19	34887247	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	3848221	34887247	24241736	77	198										
SUPT5H	6829	broad.mit.edu	37	chr19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tgtgaagccaacactctctgAgctggaaaagtttgaggacc	11	9	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.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_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000359191.6_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		Somatic				SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G	p.E392G			WXS	Illumina GAIIx	Phase_I	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	17	115	---	---	---	---	G	39959750	A	G	39959750	3	3	7	1	0	0	0	0	1	0	0	0	15396	304	11	2	1229	2	SUPT5H	19	39959750	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	5072503	39959750	19169233	78	199										
SPTBN4	57731	broad.mit.edu	37	chr19	41009977	41009977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ggacacgacttgagcagaacCttgccctgcagaaggtcttc	11	12	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.chr19:41009977C>A	ENST00000352632.3	+	12	1689	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L535I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L535I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L535I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	535					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.L535I(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)			TGAGCAGAACCTTGCCCTGCA	0.667																																						ENST00000352632.3																			1	Substitution - Missense(1)	p.L535I(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.(1603-1605)Ctt>Att		spectrin, beta, non-erythrocytic 4							45	53	50					19																	41009977		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.chr19:41009977C>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.1603C>A	19.37:g.41009977C>A	ENSP00000263373:p.Leu535Ile		Somatic				SPTBN4_ENST00000595535.1_Missense_Mutation_p.L535I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L535I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L535I	p.L535I			WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1689	+			535					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1603C>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	17.82	3.483143	0.63962	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.79352	-1.23;-1.22;-1.26	4.35	3.32	0.38043	.	0.000000	0.47852	U	0.000209	D	0.82481	0.5046	M	0.70595	2.14	0.80722	D	1	D;P	0.63046	0.992;0.566	P;B	0.60173	0.87;0.213	T	0.80919	-0.1167	10	0.44086	T	0.13	.	8.1312	0.31029	0.0:0.8031:0.0:0.1969	.	535;535	Q9H254;Q71S06	SPTN4_HUMAN;.	I	535	ENSP00000263373:L535I;ENSP00000340345:L535I;ENSP00000340741:L535I	ENSP00000340345:L535I	L	+	1	0	SPTBN4	45701817	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.552000	0.45828	1.050000	0.40346	0.486000	0.48141	CTT		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	121	4	121	---	---	---	---	A	41009977	C	A	41009977	3	1	7	1	0	0	0	0	1	0	0	0	15120	681	24	1	1645	1	SPTBN4	19	41009977	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1050227	41009977	18119006	79	200										
PSG8	440533	broad.mit.edu	37	chr19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	taccctgggactgaccgggaGgctctgaccatttagccacc	11	14	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.chr19:43259290G>T	ENST00000306511.4	-	4	935	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000404209.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I	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	440533					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		Somatic				PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000306511.4_Missense_Mutation_p.L280I	p.L280I	NM_001130167.1	NP_001123639.1	WXS	Illumina GAIIx	Phase_I	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	95	584	---	---	---	---	T	43259290	G	T	43259290	3	4	7	1	0	0	0	0	1	0	0	0	12661	1000	35	1	471	1	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	2249313	43259290	15869693	80	201										
ZC3H4	23211	broad.mit.edu	37	chr19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ccatagagcctctgcccctgCctcggctgcccctgcccatg	9	20	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		Somatic				ZC3H4_ENST00000594019.1_Intron	p.G267D	NM_015168.1	NP_055983.1	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	T	47589711	C	T	47589711	3	4	7	1	0	0	0	0	1	0	0	0	17567	739	26	2	3151	2	ZC3H4	19	47589711	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4330421	47589711	11539272	81	202										
LILRA5	353514	broad.mit.edu	37	chr19	54823141	54823141	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	agtgtcctctcacctgtcacCaccagctccagggggtcgct	10	16	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.chr19:54823141C>A	ENST00000301219.3	-	4	521	c.402G>T	c.(400-402)gtG>gtT	p.V134V	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.V134V|LILRA5_ENST00000346508.3_Silent_p.V122V|LILRA5_ENST00000446712.3_Silent_p.V122V	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	134	Ig-like C2-type 1.				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)		CACCTGTCACCACCAGCTCCA	0.632																																						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.(400-402)gtG>gtT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							105	101	102					19																	54823141		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823141C>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.402G>T	19.37:g.54823141C>A			Somatic				LILRA5_ENST00000446712.3_Silent_p.V122V|LILRA5_ENST00000432233.3_Silent_p.V134V|LILRA5_ENST00000346508.3_Silent_p.V122V|AC008984.2_ENST00000507363.1_RNA	p.V134V	NM_021250.2	NP_067073.1	WXS	Illumina GAIIx	Phase_I	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	521	-	Ovarian(34;0.19)		134			Ig-like C2-type 1.		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.402G>T	CCDS12888.1																																																																																				0.632	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		4	176	4	176	---	---	---	---	A	54823141	C	A	54823141	2	1	7	1	0	0	0	0	0	0	0	1	8788	581	21	1		1	LILRA5	19	54823141	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	7233430	54823141	4305842	82	203										
C20orf111	51526	broad.mit.edu	37	chr20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	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)tctgttfs		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		Somatic				OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs	p.SV32fs			WXS	Illumina GAIIx	Phase_I					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	7	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		42831694	20193826	83	204										
DDX27	55661	broad.mit.edu	37	chr20	47845307	47845307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cgtctgatttataaaccccgCcaggctccagtcacccgcgt	8	16	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.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			Somatic				DDX27_ENST00000484427.1_3'UTR	p.R285R	NM_017895.7	NP_060365.7	WXS	Illumina GAIIx	Phase_I	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	109	226	---	---	---	---	T	47845307	C	T	47845307	2	4	7	1	0	0	0	0	0	0	0	1	4354	726	26	2		2	DDX27	20	47845307	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	5013613	47845307	15180213	84	205										
CTCFL	140690	broad.mit.edu	37	chr20	56099193	56099193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tcctccttcaggcctttttcCggcatcaactcgagttcttt	6	14	3	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.chr20:56099193C>T	ENST00000608263.1	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000609232.1_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000608425.1_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																																						ENST00000608263.1																			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			Somatic				CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000608425.1_Silent_p.P23P|CTCFL_ENST00000609232.1_Silent_p.P23P|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P	p.P23P	NM_001269041.1	NP_001255970.1	WXS	Illumina GAIIx	Phase_I	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)							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	241	498	---	---	---	---	T	56099193	C	T	56099193	2	4	7	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	8253886	56099193	6926327	85	206										
DYRK1A	1859	broad.mit.edu	37	chr21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tgaggcaaggggctgatagaGaagagtcccccatgacagga	15	8	0	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.chr21:38884778G>C	ENST00000398960.2	+	11	2311	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q|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)	ENST00000339659.4																			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	Q13627	DYR1A_HUMAN			11	3679	+								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	7	178	---	---	---	---	C	38884778	G	C	38884778	3	2	7	1	0	0	0	0	1	0	0	0	4854	943	33	4	2362	4	DYRK1A	21	38884778	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		38884778	9245117	86	207										
RFPL1	5988	broad.mit.edu	37	chr22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	gcctctctgccagcacggtgCcgctgactttcctcttcgta	9	16	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.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		Somatic				RFPL1S_ENST00000461286.3_RNA	p.P232S	NM_021026.2	NP_066306.2	WXS	Illumina GAIIx	Phase_I	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	4	163	---	---	---	---	T	29837851	C	T	29837851	3	4	7	1	0	0	0	0	1	0	0	0	13253	739	26	2	700	2	RFPL1	22	29837851	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		29837851	21466715	87	208										
PLXNB2	23654	broad.mit.edu	37	chr22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	tgcaggcatccatgaaggtcTgcgcgatgactgacagcgag	14	10	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.chr22:50716066T>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		Somatic				PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R	p.Q1717R			WXS	Illumina GAIIx	Phase_I	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	3	119	---	---	---	---	C	50716066	T	C	50716066	3	2	7	1	0	0	0	0	1	0	0	0	12124	1580	55	2	386	2	PLXNB2	22	50716066	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	20878215	50716066	588500	88	209										
TSPAN7	7102	broad.mit.edu	37	chrX	38540490	38540490	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	ctggtaactagtttcatggaGactaacatgggaatcatcgc	10	8	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.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		Somatic				TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D	p.E210D	NM_004615.3	NP_004606.2	WXS	Illumina GAIIx	Phase_I	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	59	105	---	---	---	---	C	38540490	G	C	38540490	3	2	7	1	0	0	0	0	1	0	0	0	16649	933	33	4	652	4	TSPAN7	23	38540490	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		38540490	116730070	89	210										
ABCB7	22	broad.mit.edu	37	chrX	74318818	74318818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	9	0.844856270817979	2.11597258829731	3.29151291512915	1.79537068097954	0.410983981693364	1	0	cagcgaaatggcaactctagCtcgtagatctggcctgtctt	10	11	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.chrX:74318818C>A	ENST00000373394.3	-	4	419	c.412G>T	c.(412-414)Gct>Tct	p.A138S	ABCB7_ENST00000253577.3_Missense_Mutation_p.A139S|ABCB7_ENST00000339447.4_Intron			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	55	70	---	---	---	---	A	74318818	C	A	74318818	3	1	7	1	0	0	0	0	1	0	0	0	46	797	28	3	1898	3	ABCB7	23	74318818	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	35778328	74318818	80951742	90	211										
OR10R2	343406	broad.mit.edu	37	chr1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tacccaagatgctcatcaatCtactttctgtggccaggaca	7	12	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.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	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	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		Somatic				RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.L105V	NM_001004472.1	NP_001004472.1	WXS	Illumina GAIIx	Phase_I	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	6	603	---	---	---	---	G	158449980	C	G	158449980	3	3	8	1	0	0	0	0	1	0	0	0	10917	912	32	4	315	4	OR10R2	1	158449980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		158449980	90800641	1	212										
FMOD	2331	broad.mit.edu	37	chr1	203316790	203316790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	ttgtgttggaggtacaaggcCgtgaggttctccagcccctc	13	11	1	1	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			Somatic				FMOD_ENST00000493296.1_Intron	p.T203T	NM_002023.4	NP_002014.2	WXS	Illumina GAIIx	Phase_I	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	73	242	---	---	---	---	T	203316790	C	T	203316790	2	4	8	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	44866810	203316790	45933831	2	213										
ITGB6	3694	broad.mit.edu	37	chr2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	agggtggcaggcacacacccCacactggaaagagccgttcc	12	14	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.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	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		Somatic				ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	p.G477W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	WXS	Illumina GAIIx	Phase_I	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	4	92	---	---	---	---	A	160994176	C	A	160994176	3	1	8	1	0	0	0	0	1	0	0	0	7899	594	21	1	961	1	ITGB6	2	160994176	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		160994176	82205197	3	214										
TTN	7273	broad.mit.edu	37	chr2	179444120	179444120	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	ttaagtcaagatcaggagccActgtaaaatagcagagataa	9	6	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.chr2:179444120A>T	ENST00000591111.1	-	270	62938	c.62714T>A	c.(62713-62715)gTg>gAg	p.V20905E	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_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.V22546E|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_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.(67636-67638)gTg>gAg		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			Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590932.1_RNA	p.V22546E	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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.67637T>A		.	.	.	.	.	.	.	.	.	.	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	4	76	---	---	---	---	T	179444120	A	T	179444120	5	4	8	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	4	215										
AOX1	316	broad.mit.edu	37	chr2	201468741	201468741	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tgatatgttctctttttagaCaagtccaaaactcttcgcag	6	9	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.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.(589-591)aCa>aAa		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			Somatic					p.T197K	NM_001159.3	NP_001150.3	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			8	831	+			197					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Splice_Site	SNP	ENST00000374700.2	37	c.590C>A	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	10	146	---	---	---	---	A	201468741	C	A	201468741	5	1	8	1	0	0	0	0	0	0	1	0	729	492	17	3	620	3	AOX1	2	201468741	Splice_Site	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22024621	201468741	41730632	5	216										
PIKFYVE	200576	broad.mit.edu	37	chr2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tcattccattccctgattgaGggacgagggcatgagggggc	15	9	1	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		Somatic					p.E894D	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	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	5	262	---	---	---	---	T	209190217	G	T	209190217	3	4	8	1	0	0	0	0	1	0	0	0	11924	991	35	1	2767	1	PIKFYVE	2	209190217	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	7721476	209190217	34009156	6	217										
RASL11B	65997	broad.mit.edu	37	chr4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	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)caafs		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		Somatic				RASL11B_ENST00000505041.1_3'UTR	p.Q73fs	NM_023940.2	NP_076429.1	WXS	Illumina GAIIx	Phase_I	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	8	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	7	218										
C4orf21	55345	broad.mit.edu	37	chr4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	caagaatcagcttttcacacTcaaacctaaaacagaatttc	3	11	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.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		Somatic					p.E1827G	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	C	113468559	T	C	113468559	3	2	8	1	0	0	0	0	1	0	0	0	2254	1551	54	2	854	2	C4orf21	4	113468559	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08	59737897	113468559	77685717	8	219										
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	agtccgctcctgccccgaagAaaggctccaagaaggcagtg	12	13	0	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.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		Somatic				HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q	p.K13Q			WXS	Illumina GAIIx	Phase_I	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	5	201	---	---	---	---	C	27806476	A	C	27806476	3	2	8	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	9	220										
BAI3	577	broad.mit.edu	37	chr6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	aactttacaaactgcacttgGacgctggaaaatccagatcc	7	11	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.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		Somatic					p.W57C	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	5	226	---	---	---	---	T	69348738	G	T	69348738	3	4	8	1	0	0	0	0	1	0	0	0	1300	1183	41	3	173	3	BAI3	6	69348738	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	41542262	69348738	101766329	10	221										
EFCAB1	79645	broad.mit.edu	37	chr8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	aagacagcttcccatcatggTcatgatcctaggggaatgag	11	9	2	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.chr8:49641698T>C	ENST00000262103.3	-	5	559	c.479A>G	c.(478-480)gAc>gGc	p.D160G	EFCAB1_ENST00000433756.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000521002.1_Intron	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		Somatic				EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	p.D108G	NM_001142857.1	NP_001136329.1	WXS	Illumina GAIIx	Phase_I	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	3	151	---	---	---	---	C	49641698	T	C	49641698	3	2	8	1	0	0	0	0	1	0	0	0	4933	1667	58	2	164	2	EFCAB1	8	49641698	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		49641698	96722324	11	222										
PACS1	55690	broad.mit.edu	37	chr11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A													0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	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.(1750-1752)cagfs		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		Somatic				PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	p.Q584fs	NM_018026.3	NP_060496.2	WXS	Illumina GAIIx	Phase_I	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	8	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	12	223										
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tggcaagcggggctgtggctCctgtgggggctccaagggag	20	9	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.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		Somatic					p.S64F	NM_005553.3	NP_005544.4	WXS	Illumina GAIIx	Phase_I	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	6	211	---	---	---	---	T	71259894	C	T	71259894	3	4	8	1	0	0	0	0	1	0	0	0	8568	855	30	2	193	2	KRTAP5-9	11	71259894	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	5259446	71259894	63746622	13	224										
R3HDM2	22864	broad.mit.edu	37	chr12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	cttgcatctggccccccatgCtgctcctctggctgctgagc	10	17	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.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_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S606I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000546843.1_5'Flank|RP11-123K3.4_ENST00000548184.1_3'UTR			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		Somatic				R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I	p.S606I			WXS	Illumina GAIIx	Phase_I	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	5	255	---	---	---	---	A	57662763	C	A	57662763	3	1	8	1	0	0	0	0	1	0	0	0	12888	797	28	3	1187	3	R3HDM2	12	57662763	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		57662763	76189132	14	225										
METTL3	56339	broad.mit.edu	37	chr14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	aacatgtattaaggaaagagCagtcacctaaagactcatca	7	8	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.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		Somatic				METTL3_ENST00000538267.1_3'UTR	p.C314S	NM_019852.3	NP_062826.2	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	G	21969230	C	G	21969230	3	3	8	1	0	0	0	0	1	0	0	0	9501	710	25	4	829	4	METTL3	14	21969230	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		21969230	85380310	15	226										
ADAM10	102	broad.mit.edu	37	chr15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	cacagtaacctctaaaatcgTtgcaaggggatccaggttgc	10	10	1	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.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron	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		Somatic				ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron	p.N633S	NM_001110.2	NP_001101.1	WXS	Illumina GAIIx	Phase_I	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	5	161	---	---	---	---	C	58902623	T	C	58902623	3	2	8	1	0	0	0	0	1	0	0	0	234	1725	60	2	360	2	ADAM10	15	58902623	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		58902623	43628769	16	227										
KIAA1199	57214	broad.mit.edu	37	chr15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gttccaagcagcacttcttcCacctctggaacgacttcgct	7	15	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.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		Somatic				KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y	p.H1224Y			WXS	Illumina GAIIx	Phase_I	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	47	173	---	---	---	---	T	81234649	C	T	81234649	3	4	8	1	0	0	0	0	1	0	0	0	8213	594	21	2	3768	2	KIAA1199	15	81234649	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22332026	81234649	21296743	17	228										
DNAH9	1770	broad.mit.edu	37	chr17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tgaaaatcaacgaggcccgaGagcactaccggccagcagct	11	13	1	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.chr17:11790187G>A	ENST00000262442.4	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'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																																						ENST00000262442.4																			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		Somatic				DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR	p.E3673K	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)						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	7	180	---	---	---	---	A	11790187	G	A	11790187	3	1	8	1	0	0	0	0	1	0	0	0	4608	943	33	2	11243	2	DNAH9	17	11790187	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		11790187	69405023	18	229										
LLGL1	3996	broad.mit.edu	37	chr17	18137336	18137336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	ttcctccacagcgtgccagaCgactaccgctgtgggaaggc	12	14	0	1	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			Somatic					p.D187D	NM_004140.3	NP_004131	WXS	Illumina GAIIx	Phase_I	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	5	32	---	---	---	---	T	18137336	C	T	18137336	2	4	8	1	0	0	0	0	0	0	0	1	8833	535	19	2		2	LLGL1	17	18137336	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	6347149	18137336	63057874	19	230										
KIAA0355	9710	broad.mit.edu	37	chr19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	tgaatccaaaggcgattgaaGcaagtttgcaggtacacttt	10	7	0	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.chr19:34818760G>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		Somatic					p.A311T	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	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	28	183	---	---	---	---	A	34818760	G	A	34818760	3	1	8	1	0	0	0	0	1	0	0	0	8170	971	34	2	945	2	KIAA0355	19	34818760	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		34818760	24310223	20	231										
ZNF420	147923	broad.mit.edu	37	chr19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gaagaatgtgggaaagccttTattcgtagctcacaacttac	9	8	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.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|CTC-454I21.4_ENST00000587645.1_RNA	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		Somatic				ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	p.F232L	NM_144689.3	NP_653290.2	WXS	Illumina GAIIx	Phase_I	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	11	203	---	---	---	---	A	37618589	T	A	37618589	3	1	8	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	21	232										
ZNF600	162966	broad.mit.edu	37	chr19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gaattcggggaattattcccAtagttattagaaatatggat	9	4	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.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*		Somatic					p.Y139*	NM_198457.2	NP_940859	WXS	Illumina GAIIx	Phase_I	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	5	390	---	---	---	---	C	53270592	A	C	53270592	4	2	8	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	15652003	53270592	5858391	22	233										
NRIP1	8204	broad.mit.edu	37	chr21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gctcttccactgacatggatGactgcattccacattgtgct	8	12	1	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.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*|NRIP1_ENST00000400199.1_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*		Somatic				NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*	p.S641*			WXS	Illumina GAIIx	Phase_I	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	8	316	---	---	---	---	T	16338592	G	T	16338592	4	4	8	1	0	0	0	0	0	1	0	0	10652	1294	45	3	1558	3	NRIP1	21	16338592	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		16338592	31791303	23	234										
ADAMTS1	9510	broad.mit.edu	37	chr21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gcacctgtcctttggtgagaCgccagcgtacttgggaatcc	12	12	0	1	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					ENST00000284984.3																			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		Somatic					p.V652I	NM_006988.3	NP_008919.3	WXS	Illumina GAIIx	Phase_I	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	7	2408	-		Breast(209;0.000962)				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	20	299	---	---	---	---	T	28211980	C	T	28211980	3	4	8	1	0	0	0	0	1	0	0	0	255	536	19	2	961	2	ADAMTS1	21	28211980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	11873388	28211980	19917915	24	235										
SYN3	8224	broad.mit.edu	37	chr22	33260926	33260926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	ggcttatggttggggaaaaaTgtttgctccacaagcgggaa	14	6	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.chr22:33260926T>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			Somatic				SYN3_ENST00000332840.5_Silent_p.T229T	p.T229T	NM_001135774.1	NP_001129246.1	WXS	Illumina GAIIx	Phase_I	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	15	371	---	---	---	---	C	33260926	T	C	33260926	2	2	8	1	0	0	0	0	0	0	0	1	15439	1451	51	2		2	SYN3	22	33260926	Silent	SNP	T	TCGA-CH-5738-01A-11D-1576-08		33260926	18043640	25	236										
ZMYM3	9203	broad.mit.edu	37	chrX	70472907	70472907	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	caggactccagggtctttttCcaggccagcaggggtatcaa	12	11	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.chrX:70472907C>A	ENST00000353904.2	-	2	386	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	67					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.E67*(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)					GGGTCTTTTTCCAGGCCAGCA	0.642																																						ENST00000373998.1																			1	Substitution - Nonsense(1)	p.E67*(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.(199-201)Gaa>Taa		zinc finger, MYM-type 3							14	15	15					X																	70472907		2197	4286	6483	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472907C>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.199G>T	X.37:g.70472907C>A	ENSP00000343909:p.Glu67*		Somatic				ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR	p.E67*	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			2	896	-	Renal(35;0.156)		67					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.199G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	36	5.927197	0.97110	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	5.28	5.28	0.74379	.	0.367392	0.23354	N	0.049088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.8806	16.2441	0.82431	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000322845:E67X	E	-	1	0	ZMYM3	70389632	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.422000	0.59854	2.204000	0.70986	0.287000	0.19450	GAA		0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		3	30	3	30	---	---	---	---	A	70472907	C	A	70472907	4	1	8	1	0	0	0	0	0	1	0	0	17698	864	30	3	4027	3	ZMYM3	23	70472907	Nonsense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		70472907	84797653	26	237										
POF1B	79983	broad.mit.edu	37	chrX	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	ttagtctgtattccatgtctGatagtgtatgtcgaagagag	11	5	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: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*		Somatic				POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	p.S413*	NM_024921.3	NP_079197.3	WXS	Illumina GAIIx	Phase_I	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	50	155	---	---	---	---	T	84561266	G	T	84561266	4	4	8	1	0	0	0	0	0	1	0	0	12182	1294	45	3	555	3	POF1B	23	84561266	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	14088359	84561266	70709294	27	238										
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.678125	4.1953125	1.048828125	1	1	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	10	14	1	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.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			Somatic					p.H174H	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	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	13	143	---	---	---	---	T	151869832	C	T	151869832	2	4	8	1	0	0	0	0	0	0	0	1	9170	535	19	2		2	MAGEA6	23	151869832	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	67308566	151869832	3400728	28	239										
TNFRSF4	7293	broad.mit.edu	37	chr1	1148396	1148396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaggcttgtagctgtccaGgggctgggtgcccgcccggc	16	14	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.chr1:1148396G>T	ENST00000379236.3	-	3	350	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	116					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)		TAGCTGTCCAGGGGCTGGGTG	0.701																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(346-348)Ctg>Atg		tumor necrosis factor receptor superfamily, member 4							19	21	20					1																	1148396		2195	4283	6478	SO:0001583	missense	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.chr1:1148396G>T	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.346C>A	1.37:g.1148396G>T	ENSP00000368538:p.Leu116Met		Somatic				TNFRSF4_ENST00000453580.1_5'UTR	p.L116M	NM_003327.3	NP_003318.1	WXS	Illumina GAIIx	Phase_I	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)	3	350	-	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)	116					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.346C>A	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.904|0.904	-0.721412|-0.721412	0.03182|0.03182	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000379236|ENST00000453580	T|.	0.46451|.	0.87|.	3.69|3.69	-2.34|-2.34	0.06704|0.06704	.|.	6.660660|.	0.01334|.	U|.	0.011328|.	T|T	0.12603|0.12603	0.0306|0.0306	N|N	0.11255|0.11255	0.115|0.115	0.09310|0.09310	N|N	1|1	B;B|.	0.20780|.	0.048;0.005|.	B;B|.	0.16289|.	0.015;0.004|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|6	0.44086|0.10377	T|T	0.13|0.69	-0.9823|-0.9823	2.3716|2.3716	0.04331|0.04331	0.1031:0.1568:0.2614:0.4787|0.1031:0.1568:0.2614:0.4787	.|.	61;116|.	B1AME4;P43489|.	.;TNR4_HUMAN|.	M|H	116|61	ENSP00000368538:L116M|.	ENSP00000368538:L116M|ENSP00000390907:P61H	L|P	-|-	1|2	2|0	TNFRSF4|TNFRSF4	1138259|1138259	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.140000|0.140000	0.21249|0.21249	-0.035000|-0.035000	0.12205|0.12205	-0.209000|-0.209000	0.10156|0.10156	-0.509000|-0.509000	0.04479|0.04479	CTG|CCT		0.701	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			3	16	3	16	---	---	---	---	T	1148396	G	T	1148396	3	4	9	1	0	0	0	0	1	0	0	0	16294	991	35	1	507	1	TNFRSF4	1	1148396	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		1148396	248102225	1	240										
NADK	65220	broad.mit.edu	37	chr1	1685503	1685503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgaccttcagctcgaccCctgcggggaccacgatgggc	12	16	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.chr1:1685503C>A	ENST00000341426.5	-	10	1309	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V	NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000344463.4_Missense_Mutation_p.G508V|NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000342348.5_Missense_Mutation_p.G331V	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	363				Missing (in Ref. 2; AAG44568). {ECO:0000305}.	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)		CAGCTCGACCCCTGCGGGGAC	0.642																																						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.(1522-1524)gGg>gTg		NAD kinase							54	64	61					1																	1685503		2203	4299	6502	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.chr1:1685503C>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.1088G>T	1.37:g.1685503C>A	ENSP00000341679:p.Gly363Val		Somatic				NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000341426.5_Missense_Mutation_p.G363V|NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V	p.G508V			WXS	Illumina GAIIx	Phase_I	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)	12	1744	-	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)	363					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1523G>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806927	0.70797	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.27	5.27	0.74061	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	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	0.996;0.999;1.0	T	0.80294	-0.1443	10	0.72032	D	0.01	-35.3819	17.8069	0.88604	0.0:1.0:0.0:0.0	.	331;508;363	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	V	363;363;508;508;331	ENSP00000341679:G363V;ENSP00000344340:G363V;ENSP00000367890:G508V;ENSP00000340925:G508V;ENSP00000339727:G331V	ENSP00000341679:G363V	G	-	2	0	NADK	1675363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.630000	0.89119	0.561000	0.74099	GGG		0.642	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		6	135	6	135	---	---	---	---	A	1685503	C	A	1685503	3	1	9	1	0	0	0	0	1	0	0	0	10137	623	22	1	264	1	NADK	1	1685503	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	537107	1685503	247565118	2	241										
ERRFI1	54206	broad.mit.edu	37	chr1	8074380	8074380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgggggaataagaagaggGggcaagctggacttttgaga	17	4	0	3	rs369425306		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.chr1:8074380G>T	ENST00000377482.5	-	4	502	c.279C>A	c.(277-279)ccC>ccA	p.P93P	ERRFI1_ENST00000469499.1_Missense_Mutation_p.P68T|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	93					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)		TAAGAAGAGGGGGCAAGCTGG	0.448																																						ENST00000469499.1																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(202-204)Ccc>Acc		ERBB receptor feedback inhibitor 1							134	139	137					1																	8074380		2202	4300	6502	SO:0001819	synonymous_variant	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.chr1:8074380G>T	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.279C>A	1.37:g.8074380G>T			Somatic				ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000377482.5_Silent_p.P93P|ERRFI1_ENST00000474874.1_Intron	p.P68T			WXS	Illumina GAIIx	Phase_I	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)	3	413	-	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)	0					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.202C>A	CCDS94.1																																																																																				0.448	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		8	454	8	454	---	---	---	---	T	8074380	G	T	8074380	2	4	9	1	0	0	0	0	0	0	0	1	5244	1219	43	1		1	ERRFI1	1	8074380	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6388877	8074380	241176241	3	242										
TMEM201	199953	broad.mit.edu	37	chr1	9661280	9661280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggccagcggacacttcgccCcaggcaccactgtgcccctg	12	18	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.chr1:9661280C>A	ENST00000340381.6	+	5	733	c.724C>A	c.(724-726)Cca>Aca	p.P242T	TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T|TMEM201_ENST00000340305.5_Missense_Mutation_p.P242T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	242					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)		ACACTTCGCCCCAGGCACCAC	0.687																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(724-726)Cca>Aca		transmembrane protein 201							56	58	57					1																	9661280		2203	4300	6503	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661280C>A		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.724C>A	1.37:g.9661280C>A	ENSP00000344503:p.Pro242Thr		Somatic				TMEM201_ENST00000340381.6_Missense_Mutation_p.P242T|TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T	p.P242T	NM_001010866.3	NP_001010866.1	WXS	Illumina GAIIx	Phase_I	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)	5	733	+	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)	242					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.724C>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.741|7.741	0.701380|0.701380	0.15172|0.15172	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.228600|0.228600	0.36101|0.36101	N|N	0.002781|0.002781	T|T	0.34424|0.34424	0.0897|0.0897	L|L	0.32530|0.32530	0.975|0.975	0.22292|0.22292	N|N	0.999222|0.999222	.|B;B	.|0.19445	.|0.036;0.035	.|B;B	.|0.17722	.|0.019;0.015	T|T	0.15350|0.15350	-1.0440|-1.0440	6|9	.|0.06494	.|T	.|0.89	-9.9302|-9.9302	15.4399|15.4399	0.75176|0.75176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242;242	.|E9PBR6;Q5SNT2-2	.|.;.	H|T	151|242	.|.	.|ENSP00000344772:P242T	P|P	+|+	2|1	0|0	TMEM201|TMEM201	9583867|9583867	0.073000|0.073000	0.21202|0.21202	0.395000|0.395000	0.26283|0.26283	0.005000|0.005000	0.04900|0.04900	2.901000|2.901000	0.48695|0.48695	2.314000|2.314000	0.78098|0.78098	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.687	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		5	73	5	73	---	---	---	---	A	9661280	C	A	9661280	3	1	9	1	0	0	0	0	1	0	0	0	16123	623	22	1	742	1	TMEM201	1	9661280	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1586900	9661280	239589341	4	243										
UBE4B	10277	broad.mit.edu	37	chr1	10207136	10207136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgctccgcatcctggaccCcgcatatcccgagtgagtgt	11	15	0	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.chr1:10207136C>A	ENST00000253251.8	+	18	3031	c.2192C>A	c.(2191-2193)cCc>cAc	p.P731H	UBE4B_ENST00000377157.3_Missense_Mutation_p.P615H|UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H					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)		ATCCTGGACCCCGCATATCCC	0.493																																						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.(1843-1845)cCc>cAc		ubiquitination factor E4B							182	171	175					1																	10207136		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.chr1:10207136C>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.2192C>A	1.37:g.10207136C>A	ENSP00000253251:p.Pro731His		Somatic				UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000253251.8_Missense_Mutation_p.P731H	p.P615H	NM_006048.4	NP_006039.2	WXS	Illumina GAIIx	Phase_I	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	2905	+		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)	860						Missense_Mutation	SNP	ENST00000253251.8	37	c.1844C>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961139	0.92791	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.45668	0.89;0.89;0.89	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.956;0.971;0.927	T	0.69292	-0.5183	10	0.46703	T	0.11	-12.6052	19.8593	0.96777	0.0:1.0:0.0:0.0	.	731;860;731	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	731;615;860	ENSP00000253251:P731H;ENSP00000366362:P615H;ENSP00000343001:P860H	ENSP00000253251:P731H	P	+	2	0	UBE4B	10129723	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.678000	0.68153	2.700000	0.92200	0.558000	0.71614	CCC		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	292	6	292	---	---	---	---	A	10207136	C	A	10207136	3	1	9	1	0	0	0	0	1	0	0	0	16880	623	22	1	2653	1	UBE4B	1	10207136	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	545856	10207136	239043485	5	244										
PLOD1	5351	broad.mit.edu	37	chr1	12024347	12024347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actacgtggacattgtgcagGggcggcgtgtgtgagtacct	16	8	0	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.chr1:12024347G>T	ENST00000196061.4	+	12	1345	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	440					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)	p.G440W(1)		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)	CATTGTGCAGGGGCGGCGTGT	0.617																																						ENST00000196061.4																			1	Substitution - Missense(1)	p.G440W(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1318-1320)Ggg>Tgg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						108	113	112					1																	12024347		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.chr1:12024347G>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.1318G>T	1.37:g.12024347G>T	ENSP00000196061:p.Gly440Trp		Somatic				PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	p.G440W	NM_000302.3	NP_000293.2	WXS	Illumina GAIIx	Phase_I	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)	12	1345	+	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)	440					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1318G>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685463	0.47991	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.85411	-1.98;-1.98	5.36	4.45	0.53987	.	0.239876	0.44902	D	0.000414	D	0.86768	0.6012	L	0.37697	1.125	0.50313	D	0.999865	B;D	0.76494	0.193;0.999	B;D	0.67725	0.044;0.953	D	0.86760	0.1966	10	0.62326	D	0.03	.	10.0567	0.42250	0.164:0.0:0.836:0.0	.	487;440	B4DR87;Q02809	.;PLOD1_HUMAN	W	487;440	ENSP00000365548:G487W;ENSP00000196061:G440W	ENSP00000196061:G440W	G	+	1	0	PLOD1	11946934	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.453000	0.60061	1.263000	0.44181	0.655000	0.94253	GGG		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		7	213	7	213	---	---	---	---	T	12024347	G	T	12024347	3	4	9	1	0	0	0	0	1	0	0	0	12101	1232	43	1	1364	1	PLOD1	1	12024347	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1817211	12024347	237226274	6	245										
VPS13D	55187	broad.mit.edu	37	chr1	12313858	12313858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcgattgcactttactggGggatttgcctcagatggagt	13	7	1	1	rs528997969		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.chr1:12313858G>T	ENST00000358136.3	+	7	774	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	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)		ACTTTACTGGGGGATTTGCCT	0.473																																						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.(643-645)gGg>gTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							202	184	190					1																	12313858		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12313858G>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.644G>T	1.37:g.12313858G>T	ENSP00000350854:p.Gly215Val		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	p.G215V	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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)	7	774	+	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)	215						Missense_Mutation	SNP	ENST00000358136.3	37	c.644G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844212	0.91197	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.56611	0.45;0.46	5.48	5.48	0.80851	.	0.052237	0.85682	D	0.000000	T	0.70824	0.3268	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.3654	0.90389	0.0:0.0:1.0:0.0	.	215;215	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	215	ENSP00000348666:G215V;ENSP00000350854:G215V	ENSP00000348666:G215V	G	+	2	0	VPS13D	12236445	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.396000	0.90190	2.560000	0.86352	0.650000	0.86243	GGG		0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		7	205	7	205	---	---	---	---	T	12313858	G	T	12313858	3	4	9	1	0	0	0	0	1	0	0	0	17189	1232	43	1	666	1	VPS13D	1	12313858	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	289511	12313858	236936763	7	246										
PRAMEF12	390999	broad.mit.edu	37	chr1	12837551	12837551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctggagagttatgatgccCagggtgctctctgctgggga	15	9	2	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.chr1:12837551C>A	ENST00000357726.4	+	3	1288	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	421					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)		TTATGATGCCCAGGGTGCTCT	0.562																																						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.(1261-1263)Cag>Aag		PRAME family member 12							111	121	117					1																	12837551		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837551C>A		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.1261C>A	1.37:g.12837551C>A	ENSP00000350358:p.Gln421Lys		Somatic					p.Q421K	NM_001080830.1	NP_001074299.1	WXS	Illumina GAIIx	Phase_I	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)	3	1288	+	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)	421						Missense_Mutation	SNP	ENST00000357726.4	37	c.1261C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	4.096	0.015789	0.07959	.	.	ENSG00000116726	ENST00000357726	T	0.48201	0.82	2.72	0.813	0.18749	.	1.420630	0.04691	N	0.414107	T	0.31796	0.0808	N	0.19112	0.55	0.09310	N	1	B	0.25904	0.137	B	0.27500	0.08	T	0.22103	-1.0226	10	0.28530	T	0.3	.	4.7912	0.13250	0.0:0.6919:0.0:0.3081	.	421	O95522	PRA12_HUMAN	K	421	ENSP00000350358:Q421K	ENSP00000350358:Q421K	Q	+	1	0	PRAMEF12	12760138	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-1.064000	0.03461	0.216000	0.20781	0.195000	0.17529	CAG		0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		5	170	5	170	---	---	---	---	A	12837551	C	A	12837551	3	1	9	1	0	0	0	0	1	0	0	0	12428	595	21	1	1271	1	PRAMEF12	1	12837551	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	523693	12837551	236413070	8	247										
FBXO42	54455	broad.mit.edu	37	chr1	16577701	16577701	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcactggccacgtgaggtgGggtatgcacaccatttgtct	14	10	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.chr1:16577701G>T	ENST00000375592.3	-	10	1834	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	540										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)		ACGTGAGGTGGGGTATGCACA	0.587																																						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.(1618-1620)Cca>Aca		F-box protein 42							95	68	77					1																	16577701		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577701G>T	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.1618C>A	1.37:g.16577701G>T	ENSP00000364742:p.Pro540Thr		Somatic					p.P540T	NM_018994.1	NP_061867.1	WXS	Illumina GAIIx	Phase_I	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	1834	-		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)	540					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1618C>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847305	0.71603	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.70282	3.26;-0.47;-0.47	5.51	5.51	0.81932	.	0.050466	0.85682	D	0.000000	T	0.75852	0.3906	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75216	-0.3396	10	0.39692	T	0.17	-11.0311	18.7669	0.91876	0.0:0.0:1.0:0.0	.	540	Q6P3S6	FBX42_HUMAN	T	540;258;258	ENSP00000364742:P540T;ENSP00000415663:P258T;ENSP00000412416:P258T	ENSP00000364742:P540T	P	-	1	0	FBXO42	16450288	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.874000	0.92363	2.763000	0.94921	0.650000	0.86243	CCA		0.587	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			5	171	5	171	---	---	---	---	T	16577701	G	T	16577701	3	4	9	1	0	0	0	0	1	0	0	0	5751	1232	43	1	539	1	FBXO42	1	16577701	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3740150	16577701	232672920	9	248										
NBPF1	55672	broad.mit.edu	37	chr1	16907919	16907919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtattcagtgttacctggGggcagatgattccagtactt	12	7	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.chr1:16907919G>T	ENST00000430580.2	-	15	2262	c.1375C>A	c.(1375-1377)Ccc>Acc	p.P459T	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	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)		TGTTACCTGGGGGCAGATGAT	0.433																																						ENST00000430580.2																			0											c.(1375-1377)Ccc>Acc		neuroblastoma breakpoint family, member 1							266	296	285					1																	16907919		1493	2696	4189	SO:0001583	missense	55672					cytoplasm		g.chr1:16907919G>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.1375C>A	1.37:g.16907919G>T	ENSP00000474456:p.Pro459Thr		Somatic					p.P459T	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	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)	15	2262	-			459			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1375C>A																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		13	1160	13	1160	---	---	---	---	T	16907919	G	T	16907919	3	4	9	1	0	0	0	0	1	0	0	0	10192	1232	43	1	2109	1	NBPF1	1	16907919	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	330218	16907919	232342702	10	249										
KLHDC7A	127707	broad.mit.edu	37	chr1	18808274	18808274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataccttctcatccatagccCgcgtccgaatggaggagcat	9	13	1	0	rs372154346		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.chr1:18808274C>A	ENST00000400664.1	+	1	851	c.799C>A	c.(799-801)Cgc>Agc	p.R267S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	267						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)		ATCCATAGCCCGCGTCCGAAT	0.592																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(799-801)Cgc>Agc		kelch domain containing 7A							73	78	76					1																	18808274		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808274C>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.799C>A	1.37:g.18808274C>A	ENSP00000383505:p.Arg267Ser		Somatic					p.R267S	NM_152375.2	NP_689588.2	WXS	Illumina GAIIx	Phase_I	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	851	+		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)	267					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.799C>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962450	0.34659	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.75154	-0.91	5.02	1.89	0.25635	.	0.287492	0.26304	U	0.025153	T	0.54983	0.1892	L	0.27053	0.805	0.26216	N	0.979222	D;P	0.54207	0.965;0.906	B;B	0.41764	0.366;0.313	T	0.55211	-0.8176	10	0.87932	D	0	.	2.8062	0.05428	0.1526:0.5334:0.1338:0.1802	.	204;267	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	S	267;204	ENSP00000383505:R267S	ENSP00000383505:R267S	R	+	1	0	KLHDC7A	18680861	0.183000	0.23186	0.593000	0.28771	0.146000	0.21551	0.910000	0.28571	1.102000	0.41551	0.313000	0.20887	CGC		0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		4	167	4	167	---	---	---	---	A	18808274	C	A	18808274	3	1	9	1	0	0	0	0	1	0	0	0	8360	652	23	1	801	1	KLHDC7A	1	18808274	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1900355	18808274	230442347	11	250										
PQLC2	54896	broad.mit.edu	37	chr1	19644262	19644262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtgttgggtgaatgtgccCaggacggctgggacgaggcc	18	8	0	1	rs141141870		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.chr1:19644262C>A	ENST00000375153.3	+	2	731	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K|PQLC2_ENST00000400548.2_Intron	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	31					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)		TGAATGTGCCCAGGACGGCTG	0.592																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(91-93)Cag>Aag		PQ loop repeat containing 2							266	261	262					1																	19644262		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19644262C>A	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.91C>A	1.37:g.19644262C>A	ENSP00000364295:p.Gln31Lys		Somatic				PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K	p.Q31K	NM_001040125.1	NP_001035214.1	WXS	Illumina GAIIx	Phase_I	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)	2	731	+		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)	31					B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.91C>A	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788332	0.16258	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	T;T	0.41758	0.99;0.99	5.5	-0.017	0.13970	.	0.486350	0.23055	N	0.052444	T	0.28863	0.0716	M	0.71581	2.175	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.27157	-1.0082	10	0.05959	T	0.93	-0.1806	1.6319	0.02734	0.1264:0.3664:0.2688:0.2384	.	31	Q6ZP29	PQLC2_HUMAN	K	31	ENSP00000364297:Q31K;ENSP00000364295:Q31K	ENSP00000364295:Q31K	Q	+	1	0	PQLC2	19516849	0.133000	0.22466	0.940000	0.37924	0.885000	0.51271	0.313000	0.19415	-0.262000	0.09392	0.478000	0.44815	CAG		0.592	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		8	553	8	553	---	---	---	---	A	19644262	C	A	19644262	3	1	9	1	0	0	0	0	1	0	0	0	12419	595	21	1	93	1	PQLC2	1	19644262	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	835988	19644262	229606359	12	251										
KDM1A	23028	broad.mit.edu	37	chr1	23408760	23408760	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtgctgatccctgggctcgGggctcttattcctatgttgc	12	12	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.chr1:23408760G>T	ENST00000356634.3	+	18	2423	c.2274G>T	c.(2272-2274)cgG>cgT	p.R758R	KDM1A_ENST00000400181.4_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.R782R	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	758	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						CCTGGGCTCGGGGCTCTTATT	0.498																																						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.(2344-2346)cgG>cgT		lysine (K)-specific demethylase 1A							97	87	90					1																	23408760		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:23408760G>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.2274G>T	1.37:g.23408760G>T			Somatic				KDM1A_ENST00000356634.3_Silent_p.R758R|KDM1A_ENST00000542151.1_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA	p.R782R	NM_001009999.2	NP_001009999.1	WXS	Illumina GAIIx	Phase_I	O60341	KDM1A_HUMAN			20	2450	+			758			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.2346G>T	CCDS30627.1																																																																																				0.498	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	100	5	100	---	---	---	---	T	23408760	G	T	23408760	2	4	9	1	0	0	0	0	0	0	0	1	8122	1219	43	1		1	KDM1A	1	23408760	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3764498	23408760	225841861	13	252										
HNRNPR	10236	broad.mit.edu	37	chr1	23650124	23650124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctattctgaccggacagTggatccatcataagacgtag	9	11	3	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.chr1:23650124T>C	ENST00000374612.1	-	6	723	c.600A>G	c.(598-600)ccA>ccG	p.P200P	HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000478691.1_Silent_p.P99P	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			Somatic				HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P	p.P99P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	WXS	Illumina GAIIx	Phase_I	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	10	197	---	---	---	---	C	23650124	T	C	23650124	2	2	9	1	0	0	0	0	0	0	0	1	7272	1683	59	2		2	HNRNPR	1	23650124	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	241364	23650124	225600497	14	253										
HMGCL	3155	broad.mit.edu	37	chr1	24129055	24129055	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcttctggagattcacaccCtttgagaaacaagttagagg	10	8	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.chr1:24129055C>A	ENST00000374490.3	-	9	920		c.e9-1		HMGCL_ENST00000374483.4_Splice_Site|GALE_ENST00000374497.3_5'Flank|HMGCL_ENST00000436439.2_Splice_Site|HMGCL_ENST00000509389.1_5'Flank|GALE_ENST00000470383.1_5'Flank	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						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)		GATTCACACCCTTTGAGAAAC	0.448																																						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.e10-1		3-hydroxymethyl-3-methylglutaryl-CoA lyase							72	70	71					1																	24129055		2203	4300	6503	SO:0001630	splice_region_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24129055C>A	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.877-1G>T	1.37:g.24129055C>A			Somatic				HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	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)	10	1473	-		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)						B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Splice_Site	SNP	ENST00000374490.3	37		CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164638	0.57476	.	.	ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166;ENST00000235958	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4859	0.87688	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCL	24001642	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.630000	0.83225	2.212000	0.71576	0.462000	0.41574	.		0.448	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	Intron	4	96	4	96	---	---	---	---	A	24129055	C	A	24129055	5	1	9	1	0	0	0	0	0	0	1	0	7229	695	24	1	105	1	HMGCL	1	24129055	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	478931	24129055	225121566	15	254										
UBXN11	91544	broad.mit.edu	37	chr1	26609170	26609170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagcagagctcgcacgtccCcaatggtgttgtcaggctgc	12	13	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.chr1:26609170C>A	ENST00000374222.1	-	15	1726	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	UBXN11_ENST00000314675.7_Missense_Mutation_p.G301V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V			Q5T124	UBX11_HUMAN	UBX domain protein 11	421	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGCACGTCCCCAATGGTGTT	0.642																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(901-903)gGg>gTg		UBX domain protein 11							71	80	77					1																	26609170		2083	4220	6303	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26609170C>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.1262G>T	1.37:g.26609170C>A	ENSP00000363339:p.Gly421Val		Somatic				UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000374222.1_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V	p.G301V	NM_001077262.1	NP_001070730.1	WXS	Illumina GAIIx	Phase_I	Q5T124	UBX11_HUMAN			10	981	-			421					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.902G>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535613	0.64972	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	4.84	4.84	0.62591	UBX (2);	0.057933	0.64402	D	0.000002	T	0.64994	0.2649	M	0.74881	2.28	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;1.0;1.0;0.989	T	0.68861	-0.5297	10	0.59425	D	0.04	-25.1019	16.1249	0.81386	0.0:1.0:0.0:0.0	.	388;383;301;421	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	V	301;178;388;421;421;388	ENSP00000324721:G301V;ENSP00000363340:G178V;ENSP00000349601:G388V;ENSP00000363338:G421V;ENSP00000363339:G421V;ENSP00000363334:G388V	ENSP00000324721:G301V	G	-	2	0	UBXN11	26481757	1.000000	0.71417	0.053000	0.19242	0.331000	0.28603	6.258000	0.72487	2.227000	0.72691	0.561000	0.74099	GGG		0.642	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		5	129	5	129	---	---	---	---	A	26609170	C	A	26609170	3	1	9	1	0	0	0	0	1	0	0	0	16910	623	22	1	308	1	UBXN11	1	26609170	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2480115	26609170	222641451	16	255										
ARID1A	8289	broad.mit.edu	37	chr1	27058085	27058085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctattcccagcagcgcttccCtccaccgcaggtaagatatc	7	16	0	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.chr1:27058085C>A	ENST00000324856.7	+	3	2164	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	598					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)		CAGCGCTTCCCTCCACCGCAG	0.587			"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.(1792-1794)cCt>cAt		AT rich interactive domain 1A (SWI-like)							92	88	89					1																	27058085		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.chr1:27058085C>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.1793C>A	1.37:g.27058085C>A	ENSP00000320485:p.Pro598His		Somatic				ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	p.P598H	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	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)	3	2164	+		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)	598					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1793C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851328	0.51270	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02837	4.4;4.14;4.2	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	L	0.60455	1.87	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	0.00169	-1.1962	10	0.52906	T	0.07	-5.8047	19.1625	0.93539	0.0:1.0:0.0:0.0	.	598;598;252	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	598;598;215	ENSP00000320485:P598H;ENSP00000387636:P598H;ENSP00000363267:P215H	ENSP00000320485:P598H	P	+	2	0	ARID1A	26930672	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.721000	0.61951	2.755000	0.94549	0.563000	0.77884	CCT		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	154	6	154	---	---	---	---	A	27058085	C	A	27058085	3	1	9	1	0	0	0	0	1	0	0	0	913	681	24	1	1803	1	ARID1A	1	27058085	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	448915	27058085	222192536	17	256										
SLC9A1	6548	broad.mit.edu	37	chr1	27427032	27427032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaaccctaagactttgccCttcagctcttcattcaccag	4	16	5	1	rs138292060		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.chr1:27427032C>A	ENST00000263980.3	-	12	2789	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	738					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)	AGACTTTGCCCTTCAGCTCTT	0.602																																						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.(2212-2214)aaG>aaT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						238	223	228					1																	27427032		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427032C>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.2214G>T	1.37:g.27427032C>A	ENSP00000263980:p.Lys738Asn		Somatic				SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	p.K738N	NM_003047.4	NP_003038.2	WXS	Illumina GAIIx	Phase_I	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	2789	-			738					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2214G>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323376	0.24080	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.52754	0.65;1.25	4.07	2.19	0.27852	.	0.000000	0.51477	D	0.000083	T	0.37461	0.1004	L	0.51422	1.61	0.46396	D	0.999022	B	0.23185	0.081	B	0.15052	0.012	T	0.17258	-1.0375	10	0.44086	T	0.13	.	8.2289	0.31587	0.0:0.8109:0.0:0.1891	.	738	P19634	SL9A1_HUMAN	N	738;242;399;159	ENSP00000263980:K738N;ENSP00000445520:K399N	ENSP00000263980:K738N	K	-	3	2	SLC9A1	27299619	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	1.870000	0.39529	0.498000	0.27948	-0.237000	0.12165	AAG		0.602	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		7	462	7	462	---	---	---	---	A	27427032	C	A	27427032	3	1	9	1	0	0	0	0	1	0	0	0	14709	680	24	1	237	1	SLC9A1	1	27427032	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	368947	27427032	221823589	18	257										
PTAFR	5724	broad.mit.edu	37	chr1	28476664	28476664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggaaacagtagataacaGggtctaagacacagttggtg	13	5	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.chr1:28476664G>T	ENST00000373857.3	-	2	1503	c.869C>A	c.(868-870)cCt>cAt	p.P290H	PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	290					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGATAACAGGGTCTAAGAC	0.532																																						ENST00000373857.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(868-870)cCt>cAt		platelet-activating factor receptor							128	115	119					1																	28476664		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476664G>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"GPCR / Class A : Platelet-activating factor receptors"	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.869C>A	1.37:g.28476664G>T	ENSP00000362965:p.Pro290His		Somatic				PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	WXS	Illumina GAIIx	Phase_I	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	1503	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	290					A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.869C>A	CCDS318.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173393	0.78452	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	D;D;D	0.98807	-5.15;-5.15;-5.15	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98837	1.0753	10	0.87932	D	0	.	19.1385	0.93438	0.0:0.0:1.0:0.0	.	290	P25105	PTAFR_HUMAN	H	290	ENSP00000362965:P290H;ENSP00000442658:P290H;ENSP00000301974:P290H	ENSP00000301974:P290H	P	-	2	0	PTAFR	28349251	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	9.869000	0.99810	2.525000	0.85131	0.563000	0.77884	CCT		0.532	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		4	101	4	101	---	---	---	---	T	28476664	G	T	28476664	3	4	9	1	0	0	0	0	1	0	0	0	12723	1000	35	1	163	1	PTAFR	1	28476664	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1049632	28476664	220773957	19	258										
CSMD2	114784	broad.mit.edu	37	chr1	34286096	34286096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgagcctagtcttttgccCctttcgggtatgccagggtc	11	13	1	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.chr1:34286096C>A	ENST00000373381.4	-	8	1349	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	351	Sushi 2. {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)				GTCTTTTGCCCCTTTCGGGTA	0.463																																						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.(1171-1173)agG>agT		CUB and Sushi multiple domains 2							191	188	189					1																	34286096		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286096C>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.1173G>T	1.37:g.34286096C>A	ENSP00000362479:p.Arg391Ser		Somatic					p.R391S	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			8	1349	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	351			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1173G>T		.	.	.	.	.	.	.	.	.	.	C	15.57	2.872343	0.51695	.	.	ENSG00000121904	ENST00000373381	T	0.63096	-0.02	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.058627	0.64402	D	0.000003	T	0.44644	0.1303	N	0.17379	0.485	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.005	T	0.40384	-0.9566	10	0.59425	D	0.04	.	8.5305	0.33331	0.0:0.8377:0.0:0.1623	.	351;391	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	391	ENSP00000362479:R391S	ENSP00000241312:R351S	R	-	3	2	CSMD2	34058683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.308000	0.43690	2.746000	0.94184	0.655000	0.94253	AGG		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	421	7	421	---	---	---	---	A	34286096	C	A	34286096	3	1	9	1	0	0	0	0	1	0	0	0	3945	622	22	1	9658	1	CSMD2	1	34286096	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5809432	34286096	214964525	20	259										
TEKT2	27285	broad.mit.edu	37	chr1	36552430	36552430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctcgctgaaggttgaccCcacacgtgtacctgatgggt	11	12	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.chr1:36552430C>A	ENST00000207457.3	+	5	741	c.614C>A	c.(613-615)cCc>cAc	p.P205H	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	205					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)				AAGGTTGACCCCACACGTGTA	0.552																																						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.(613-615)cCc>cAc		tektin 2 (testicular)							152	129	137					1																	36552430		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552430C>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.614C>A	1.37:g.36552430C>A	ENSP00000207457:p.Pro205His		Somatic					p.P205H	NM_014466.2	NP_055281.2	WXS	Illumina GAIIx	Phase_I	Q9UIF3	TEKT2_HUMAN			5	741	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	205					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.614C>A	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310416	0.60414	.	.	ENSG00000092850	ENST00000207457	T	0.02552	4.25	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.17662	0.0424	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14476	-1.0471	10	0.16896	T	0.51	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	205	Q9UIF3	TEKT2_HUMAN	H	205	ENSP00000207457:P205H	ENSP00000207457:P205H	P	+	2	0	TEKT2	36325017	1.000000	0.71417	0.844000	0.33320	0.201000	0.24016	7.696000	0.84270	2.654000	0.90174	0.563000	0.77884	CCC		0.552	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		5	113	5	113	---	---	---	---	A	36552430	C	A	36552430	3	1	9	1	0	0	0	0	1	0	0	0	15750	623	22	1	628	1	TEKT2	1	36552430	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2266334	36552430	212698191	21	260										
MANEAL	149175	broad.mit.edu	37	chr1	38265330	38265330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgactcatacctgacgtccCctgaggcctgggcccacctc	9	18	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.chr1:38265330C>A	ENST00000373045.6	+	4	1210	c.829C>A	c.(829-831)Cct>Act	p.P277T	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000397631.3_Intron	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	277						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)				CCTGACGTCCCCTGAGGCCTG	0.572																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(829-831)Cct>Act		mannosidase, endo-alpha-like							106	107	107					1																	38265330		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265330C>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.829C>A	1.37:g.38265330C>A	ENSP00000362136:p.Pro277Thr		Somatic				MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T	p.P277T	NM_001113482.1	NP_001106954.1	WXS	Illumina GAIIx	Phase_I	Q5VSG8	MANEL_HUMAN			4	1210	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	277					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.829C>A	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361249	0.82353	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	D;D;D	0.91843	-2.92;-2.92;-2.92	5.49	5.49	0.81192	.	0.049276	0.85682	D	0.000000	D	0.94785	0.8316	M	0.84846	2.72	0.54753	D	0.999988	P;P	0.46952	0.617;0.887	B;P	0.52109	0.178;0.69	D	0.94922	0.8074	10	0.56958	D	0.05	-8.1607	14.4639	0.67470	0.0:0.852:0.148:0.0	.	55;277	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	T	277;83;55	ENSP00000362136:P277T;ENSP00000437312:P83T;ENSP00000328770:P55T	ENSP00000328770:P55T	P	+	1	0	MANEAL	38037917	0.991000	0.36638	0.984000	0.44739	0.993000	0.82548	3.057000	0.49931	2.593000	0.87608	0.563000	0.77884	CCT		0.572	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		7	241	7	241	---	---	---	---	A	38265330	C	A	38265330	3	1	9	1	0	0	0	0	1	0	0	0	9222	623	22	1	843	1	MANEAL	1	38265330	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1712900	38265330	210985291	22	261										
INPP5B	3633	broad.mit.edu	37	chr1	38357094	38357094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccataggcactcccttccCatttggtctcaaaccatcaa	5	15	2	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.chr1:38357094C>A	ENST00000373026.1	-	7	805	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W|INPP5B_ENST00000373023.2_Missense_Mutation_p.G269W			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	269					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)				ACTCCCTTCCCATTTGGTCTC	0.448																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(805-807)Ggg>Tgg		inositol polyphosphate-5-phosphatase, 75kDa							171	173	172					1																	38357094		1893	4106	5999	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.chr1:38357094C>A	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.805G>T	1.37:g.38357094C>A	ENSP00000362117:p.Gly269Trp		Somatic				INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000373026.1_Missense_Mutation_p.G269W|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W	p.G269W	NM_005540.2	NP_005531.2	WXS	Illumina GAIIx	Phase_I	P32019	I5P2_HUMAN			8	898	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	269					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.805G>T		.	.	.	.	.	.	.	.	.	.	C	13.37	2.217314	0.39201	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93659	-3.26;-3.13;-3.13;-3.12	5.38	4.47	0.54385	.	903.776000	0.00166	N	0.000000	D	0.96377	0.8818	M	0.65498	2.005	0.80722	D	1	D;D	0.63880	0.992;0.993	P;D	0.67231	0.671;0.95	D	0.86646	0.1895	10	0.49607	T	0.09	.	10.3144	0.43727	0.0:0.9087:0.0:0.0913	.	269;189	P32019;P32019-2	I5P2_HUMAN;.	W	25;269;269;269;189	ENSP00000362118:G25W;ENSP00000362114:G269W;ENSP00000362117:G269W;ENSP00000362115:G189W	ENSP00000362114:G269W	G	-	1	0	INPP5B	38129681	1.000000	0.71417	0.746000	0.31095	0.118000	0.20060	1.497000	0.35649	1.404000	0.46819	0.650000	0.86243	GGG		0.448	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		7	293	7	293	---	---	---	---	A	38357094	C	A	38357094	3	1	9	1	0	0	0	0	1	0	0	0	7755	594	21	1	2244	1	INPP5B	1	38357094	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	91764	38357094	210893527	23	262										
MACF1	23499	broad.mit.edu	37	chr1	39768669	39768669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaatggaaagtgatcagccCcacagggaacgaggcaatgg	13	9	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.chr1:39768669C>A	ENST00000372915.3	+	22	2810	c.2723C>A	c.(2722-2724)cCc>cAc	p.P908H	MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000564288.1_Missense_Mutation_p.P903H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	908	SH3.				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)			GTGATCAGCCCCACAGGGAAC	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.(2707-2709)cCc>cAc		microtubule-actin crosslinking factor 1							102	87	92					1																	39768669		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.chr1:39768669C>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.2723C>A	1.37:g.39768669C>A	ENSP00000362006:p.Pro908His		Somatic				MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000372915.3_Missense_Mutation_p.P908H	p.P903H			WXS	Illumina GAIIx	Phase_I	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)		23	3485	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	908			SH3.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2708C>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.008565	0.93346	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.77489	-0.2;-1.1;-0.2;-0.2;-0.2;-0.2;-0.2	5.57	5.57	0.84162	.	.	.	.	.	D	0.89217	0.6652	M	0.81497	2.545	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.87578	0.689;0.998	D	0.90052	0.4150	9	0.87932	D	0	.	19.555	0.95342	0.0:1.0:0.0:0.0	.	908;873	F8W8Q1;Q9UPN3-3	.;.	H	908;908;908;908;908;866;1057	ENSP00000439537:P908H;ENSP00000362006:P908H;ENSP00000354573:P908H;ENSP00000313438:P908H;ENSP00000444364:P908H;ENSP00000435070:P866H;ENSP00000437059:P1057H	ENSP00000313438:P908H	P	+	2	0	MACF1	39541256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.640000	0.89533	0.655000	0.94253	CCC		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	86	5	86	---	---	---	---	A	39768669	C	A	39768669	3	1	9	1	0	0	0	0	1	0	0	0	9144	623	22	1	2809	1	MACF1	1	39768669	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1411575	39768669	209481952	24	263										
MACF1	23499	broad.mit.edu	37	chr1	39910390	39910390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tataatcaactacttgacaaGggcagactcatgcttctaag	7	9	3	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.chr1:39910390G>T	ENST00000372915.3	+	79	19272	c.19185G>T	c.(19183-19185)aaG>aaT	p.K6395N	MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000564288.1_Missense_Mutation_p.K6496N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6395					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)			TACTTGACAAGGGCAGACTCA	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.(19486-19488)aaG>aaT		microtubule-actin crosslinking factor 1							96	89	91					1																	39910390		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.chr1:39910390G>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.19185G>T	1.37:g.39910390G>T	ENSP00000362006:p.Lys6395Asn		Somatic				MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000372915.3_Missense_Mutation_p.K6395N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N	p.K6496N			WXS	Illumina GAIIx	Phase_I	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)		80	20265	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6505					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19488G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.798608|3.798608	0.70567|0.70567	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75;0.75	6.16|6.16	2.3|2.3	0.28687|0.28687	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.996;1.0	.|P;D	.|0.72982	.|0.877;0.979	T|T	0.55636|0.55636	-0.8110|-0.8110	5|10	.|0.72032	.|D	.|0.01	.|.	9.3292|9.3292	0.38012|0.38012	0.3885:0.0:0.6115:0.0|0.3885:0.0:0.6115:0.0	.|.	.|6395;4437	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	W|N	3441|4437;6395;4437;4437;4307;4939	.|ENSP00000439537:K4437N;ENSP00000362006:K6395N;ENSP00000354573:K4437N;ENSP00000313438:K4437N;ENSP00000444364:K4307N;ENSP00000289893:K4939N	.|ENSP00000289893:K4939N	G|K	+|+	1|3	0|2	MACF1|MACF1	39682977|39682977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.789000|0.789000	0.26886|0.26886	0.190000|0.190000	0.20209|0.20209	0.650000|0.650000	0.86243|0.86243	GGG|AAG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	112	5	112	---	---	---	---	T	39910390	G	T	39910390	3	4	9	1	0	0	0	0	1	0	0	0	9144	991	35	1	19764	1	MACF1	1	39910390	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	141721	39910390	209340231	25	264										
MACF1	23499	broad.mit.edu	37	chr1	39927561	39927561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccttttctccagagttccCcaccaccaagttagagatga	6	13	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.chr1:39927561C>A	ENST00000372915.3	+	92	21314	c.21227C>A	c.(21226-21228)cCc>cAc	p.P7076H	MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000564288.1_Missense_Mutation_p.P7177H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7076	EF-hand 1. {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)			CCAGAGTTCCCCACCACCAAG	0.378																																						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.(21529-21531)cCc>cAc		microtubule-actin crosslinking factor 1							156	156	156					1																	39927561		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.chr1:39927561C>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.21227C>A	1.37:g.39927561C>A	ENSP00000362006:p.Pro7076His		Somatic				MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000372915.3_Missense_Mutation_p.P7076H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H	p.P7177H			WXS	Illumina GAIIx	Phase_I	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	22307	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7076			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21530C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.055605|5.055605	0.93793|0.93793	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000360115;ENST00000442046	T;T;T;T;T;T|T;T	0.72167|0.72051	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63|-0.62;3.13	5.91|5.91	5.91|5.91	0.95273|0.95273	EF-hand-like domain (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.79233|0.79233	0.4411|0.4411	L|L	0.55990|0.55990	1.75|1.75	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	0.75010|0.75010	-0.3468|-0.3468	9|7	.|.	.|.	.|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	7076;5118|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	H|T	5118;7076;5118;5118;4988;5620|225;19	ENSP00000439537:P5118H;ENSP00000362006:P7076H;ENSP00000354573:P5118H;ENSP00000313438:P5118H;ENSP00000444364:P4988H;ENSP00000289893:P5620H|ENSP00000353231:P225T;ENSP00000407776:P19T	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39700148|39700148	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	387	6	387	---	---	---	---	A	39927561	C	A	39927561	3	1	9	1	0	0	0	0	1	0	0	0	9144	623	22	1	21858	1	MACF1	1	39927561	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	17171	39927561	209323060	26	265										
RLF	6018	broad.mit.edu	37	chr1	40688302	40688302	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttgtaatctggaatctgaGgggcaggataacacagcatt	11	6	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.chr1:40688302G>T	ENST00000372771.4	+	6	894	c.867G>T	c.(865-867)gaG>gaT	p.E289D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	289					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)			TGGAATCTGAGGGGCAGGATA	0.373																																						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.(865-867)gaG>gaT		rearranged L-myc fusion							161	143	149					1																	40688302		2203	4300	6503	SO:0001583	missense	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.chr1:40688302G>T		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.867G>T	1.37:g.40688302G>T	ENSP00000361857:p.Glu289Asp		Somatic					p.E289D	NM_012421.3	NP_036553.2	WXS	Illumina GAIIx	Phase_I	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)		6	894	+	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)	289					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.867G>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200870	0.79015	.	.	ENSG00000117000	ENST00000372771	T	0.20069	2.1	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	L	0.52206	1.635	0.49798	D	0.999828	D	0.76494	0.999	D	0.76071	0.987	T	0.02404	-1.1164	10	0.38643	T	0.18	-12.8371	12.9977	0.58657	0.0737:0.0:0.9263:0.0	.	289	Q13129	RLF_HUMAN	D	289	ENSP00000361857:E289D	ENSP00000361857:E289D	E	+	3	2	RLF	40460889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.363000	0.44178	2.663000	0.90544	0.655000	0.94253	GAG		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		6	251	6	251	---	---	---	---	T	40688302	G	T	40688302	3	4	9	1	0	0	0	0	1	0	0	0	13389	991	35	1	889	1	RLF	1	40688302	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	760741	40688302	208562319	27	266										
ZNF643	65243	broad.mit.edu	37	chr1	40928275	40928275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaccaaagaatgggtaagGggcaaatccccctgatgtgc	12	9	0	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.chr1:40928275G>T	ENST00000411995.2	+	6	994	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	207					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)										AATGGGTAAGGGGCAAATCCC	0.403																																						ENST00000411995.2																			0											c.(619-621)Ggg>Tgg		ZFP69 zinc finger protein B							121	131	128					1																	40928275		2203	4300	6503	SO:0001583	missense	65243							g.chr1:40928275G>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.619G>T	1.37:g.40928275G>T	ENSP00000399664:p.Gly207Trp		Somatic				ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W|ZFP69B_ENST00000484445.1_3'UTR	p.G207W	NM_023070.2	NP_075558.2	WXS	Illumina GAIIx	Phase_I					6	994	+								Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.619G>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	6.870	0.529988	0.13127	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.09073	3.49;3.02	3.32	-0.644	0.11479	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.62885	0.908	T	0.33979	-0.9847	9	0.72032	D	0.01	.	7.0908	0.25283	0.5789:0.0:0.4211:0.0	.	207	Q9UJL9	ZN643_HUMAN	W	138;207;105	ENSP00000399664:G207W;ENSP00000354547:G105W	ENSP00000354547:G105W	G	+	1	0	ZNF643	40700862	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.546000	0.06062	-0.125000	0.11703	-0.196000	0.12772	GGG		0.403	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	310	6	310	---	---	---	---	T	40928275	G	T	40928275	3	4	9	1	0	0	0	0	1	0	0	0	18056	1232	43	1	637	1	ZNF643	1	40928275	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	239973	40928275	208322346	28	267										
HIVEP3	59269	broad.mit.edu	37	chr1	42050098	42050098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagagggtccaggtctcatgGggtcaaccagttgccatgtg	14	10	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.chr1:42050098G>T	ENST00000372583.1	-	4	1256	c.371C>A	c.(370-372)cCc>cAc	p.P124H	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	124					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)				AGGTCTCATGGGGTCAACCAG	0.607																																						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.(370-372)cCc>cAc		human immunodeficiency virus type I enhancer binding protein 3							105	110	108					1																	42050098		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050098G>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.371C>A	1.37:g.42050098G>T	ENSP00000361664:p.Pro124His		Somatic				HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P124H	p.P124H	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1385	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	124					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.371C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771454	0.49680	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.55	4.55	0.56014	.	0.000000	0.49305	D	0.000157	T	0.10637	0.0260	L	0.27053	0.805	0.42153	D	0.991561	P;P	0.46277	0.875;0.803	P;P	0.54431	0.752;0.569	T	0.41698	-0.9494	10	0.17832	T	0.49	-11.3002	17.0766	0.86588	0.0:0.0:1.0:0.0	.	124;124	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	124	ENSP00000361665:P124H;ENSP00000361664:P124H;ENSP00000247584:P124H;ENSP00000410828:P124H	ENSP00000247584:P124H	P	-	2	0	HIVEP3	41822685	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.192000	0.50989	2.341000	0.79615	0.563000	0.77884	CCC		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	241	6	241	---	---	---	---	T	42050098	G	T	42050098	3	4	9	1	0	0	0	0	1	0	0	0	7188	1232	43	1	6873	1	HIVEP3	1	42050098	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1121823	42050098	207200523	29	268										
ST3GAL3	6487	broad.mit.edu	37	chr1	44386558	44386558	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgagcacacccaacgcaccCctgcactactatgagaccgt	7	16	0	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.chr1:44386558C>A	ENST00000361392.4	+	11	1173	c.996C>A	c.(994-996)ccC>ccA	p.P332P	ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000262915.3_Silent_p.P401P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372374.2_Silent_p.P301P	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	332					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)				CCAACGCACCCCTGCACTACT	0.587																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(1201-1203)ccC>ccA		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							95	68	77					1																	44386558		2203	4300	6503	SO:0001819	synonymous_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386558C>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.996C>A	1.37:g.44386558C>A			Somatic				ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P332P|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P	p.P401P	NM_174963.3	NP_777623.2	WXS	Illumina GAIIx	Phase_I	Q11203	SIAT6_HUMAN			12	1380	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	332					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	Silent	SNP	ENST00000361392.4	37	c.1203C>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122974	0.20959	.	.	ENSG00000126091	ENST00000490502	T	0.32023	1.47	4.67	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33599	-0.9862	7	0.87932	D	0	.	8.5406	0.33390	0.2682:0.6482:0.0:0.0836	.	.	.	.	H	131	ENSP00000436298:P131H	ENSP00000436298:P131H	P	+	2	0	ST3GAL3	44159145	0.924000	0.31332	1.000000	0.80357	0.986000	0.74619	-0.058000	0.11750	2.307000	0.77673	0.591000	0.81541	CCC		0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		4	43	4	43	---	---	---	---	A	44386558	C	A	44386558	2	1	9	1	0	0	0	0	0	0	0	1	15215	610	22	1		1	ST3GAL3	1	44386558	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2336460	44386558	204864063	30	269										
CYP4X1	260293	broad.mit.edu	37	chr1	47515758	47515758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcagagtgactccagaccCcaccaggcctcttactttcc	6	17	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.chr1:47515758C>A	ENST00000371901.3	+	12	1692	c.1442C>A	c.(1441-1443)cCc>cAc	p.P481H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	481						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						ACTCCAGACCCCACCAGGCCT	0.468																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1441-1443)cCc>cAc		cytochrome P450, family 4, subfamily X, polypeptide 1							131	132	132					1																	47515758		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47515758C>A	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.1442C>A	1.37:g.47515758C>A	ENSP00000360968:p.Pro481His		Somatic				CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	p.P481H	NM_178033.1	NP_828847.1	WXS	Illumina GAIIx	Phase_I	Q8N118	CP4X1_HUMAN			12	1692	+			481					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1442C>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	c	8.706	0.910941	0.17833	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.70631	-0.5;-0.5	5.4	2.28	0.28536	.	0.703054	0.14868	N	0.293710	T	0.52821	0.1758	L	0.28192	0.835	0.27079	N	0.963137	B;B	0.14438	0.01;0.002	B;B	0.21546	0.035;0.012	T	0.41215	-0.9521	10	0.35671	T	0.21	.	4.5617	0.12163	0.0:0.4071:0.163:0.43	.	481;480	Q8N118;G3V1U1	CP4X1_HUMAN;.	H	480;481	ENSP00000445965:P480H;ENSP00000360968:P481H	ENSP00000360968:P481H	P	+	2	0	CYP4X1	47288345	0.000000	0.05858	0.976000	0.42696	0.489000	0.33432	0.083000	0.14871	0.651000	0.30788	0.467000	0.42956	CCC		0.468	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		7	284	7	284	---	---	---	---	A	47515758	C	A	47515758	3	1	9	1	0	0	0	0	1	0	0	0	4193	623	22	1	1488	1	CYP4X1	1	47515758	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3129200	47515758	201734863	31	270										
STIL	6491	broad.mit.edu	37	chr1	47746590	47746590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcctggtatgggggttccCtttcttataggcaggtggct	14	8	1	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.chr1:47746590C>A	ENST00000360380.3	-	13	1903	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	514					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)				TGGGGGTTCCCTTTCTTATAG	0.418																																						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.(1540-1542)Ggg>Tgg		SCL/TAL1 interrupting locus							94	93	94					1																	47746590		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746590C>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.1540G>T	1.37:g.47746590C>A	ENSP00000353544:p.Gly514Trp		Somatic				STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W	p.G514W	NM_001282936.1	NP_001269865.1	WXS	Illumina GAIIx	Phase_I	Q15468	STIL_HUMAN			13	1903	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	514					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1540G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084355	0.20309	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.47528	2.18;2.18;2.18;2.18;2.18;0.84	5.14	5.14	0.70334	.	0.898647	0.09730	N	0.763209	T	0.45597	0.1350	L	0.27053	0.805	0.09310	N	1	P;D;P;D;D	0.59357	0.896;0.985;0.896;0.985;0.985	P;P;P;P;P	0.51355	0.487;0.667;0.487;0.667;0.667	T	0.33445	-0.9868	10	0.66056	D	0.02	-0.0263	8.7964	0.34883	0.1503:0.7741:0.0:0.0756	.	514;467;514;514;514	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	W	514;514;514;514;514;467	ENSP00000353544:G514W;ENSP00000337367:G514W;ENSP00000360944:G514W;ENSP00000379523:G514W;ENSP00000243182:G514W;ENSP00000411664:G467W	ENSP00000243182:G514W	G	-	1	0	STIL	47519177	0.001000	0.12720	0.019000	0.16419	0.057000	0.15508	0.927000	0.28818	2.677000	0.91161	0.655000	0.94253	GGG		0.418	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	222	9	222	---	---	---	---	A	47746590	C	A	47746590	3	1	9	1	0	0	0	0	1	0	0	0	15281	681	24	1	2350	1	STIL	1	47746590	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	230832	47746590	201504031	32	271										
USP1	7398	broad.mit.edu	37	chr1	62910475	62910475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagtattacaatgtattttGggaaacattcaagaaacatg	8	4	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.chr1:62910475G>T	ENST00000339950.4	+	6	1439	c.624G>T	c.(622-624)ttG>ttT	p.L208F	USP1_ENST00000371146.1_Missense_Mutation_p.L208F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	208	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATGTATTTTGGGAAACATTC	0.338																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(622-624)ttG>ttT		ubiquitin specific peptidase 1							70	77	75					1																	62910475		2203	4298	6501	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62910475G>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.624G>T	1.37:g.62910475G>T	ENSP00000343526:p.Leu208Phe		Somatic				USP1_ENST00000371146.1_Missense_Mutation_p.L208F	p.L208F	NM_003368.4	NP_003359.3	WXS	Illumina GAIIx	Phase_I	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	1439	+		all_neural(321;0.0281)	208					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.624G>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858924	0.71834	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.57907	0.37;0.37	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000002	T	0.71821	0.3385	M	0.70595	2.14	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.73701	-0.3900	10	0.87932	D	0	-4.0968	15.9381	0.79734	0.0:0.0:0.8648:0.1352	.	208	O94782	UBP1_HUMAN	F	208	ENSP00000360188:L208F;ENSP00000343526:L208F	ENSP00000343526:L208F	L	+	3	2	USP1	62683063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.889000	0.39718	2.850000	0.98022	0.650000	0.86243	TTG		0.338	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		5	235	5	235	---	---	---	---	T	62910475	G	T	62910475	3	4	9	1	0	0	0	0	1	0	0	0	17037	1339	47	1	642	1	USP1	1	62910475	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	15163885	62910475	186340146	33	272										
IL12RB2	3595	broad.mit.edu	37	chr1	67861329	67861329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagtccttcatcaagtgaccCcagttttcagacatcccccc	5	16	3	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.chr1:67861329C>A	ENST00000262345.1	+	16	2786	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	716					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						TCAAGTGACCCCAGTTTTCAG	0.537																																						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.(2146-2148)Cca>Aca		interleukin 12 receptor, beta 2							85	86	86					1																	67861329		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861329C>A	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.2146C>A	1.37:g.67861329C>A	ENSP00000262345:p.Pro716Thr		Somatic				IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T	p.P716T	NM_001559.2	NP_001550.1	WXS	Illumina GAIIx	Phase_I	Q99665	I12R2_HUMAN			16	2786	+			716					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2146C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491344	0.44249	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.39997	1.05;1.89	4.36	0.23	0.15372	.	0.725987	0.12430	N	0.469662	T	0.18257	0.0438	L	0.46157	1.445	0.09310	N	0.999999	P;P	0.46220	0.874;0.483	P;B	0.44946	0.465;0.122	T	0.07790	-1.0754	10	0.56958	D	0.05	-4.8893	4.1166	0.10084	0.0:0.4948:0.1946:0.3106	.	630;716	F5H7L6;Q99665	.;I12R2_HUMAN	T	716;630	ENSP00000262345:P716T;ENSP00000442443:P630T	ENSP00000262345:P716T	P	+	1	0	IL12RB2	67633917	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.326000	0.19646	-0.040000	0.13580	-0.291000	0.09656	CCA		0.537	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		5	106	5	106	---	---	---	---	A	67861329	C	A	67861329	3	1	9	1	0	0	0	0	1	0	0	0	7627	623	22	1	2204	1	IL12RB2	1	67861329	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4950854	67861329	181389292	34	273										
RPE65	6121	broad.mit.edu	37	chr1	68906685	68906685	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catagttgcaaagatcaaccTacggaagtaaagtgaatgtc	9	7	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.chr1:68906685T>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			Somatic						NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	C	68906685	T	C	68906685	5	2	9	1	0	0	0	0	0	0	1	0	13545	1536	53	2	1143	2	RPE65	1	68906685	Splice_Site	SNP	T	TCGA-CH-5739-01A-11D-1576-08	1045356	68906685	180343936	35	274										
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510218	77510218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcctgagccaggtgctgccCcggctgaaggccttcatgat	12	14	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.chr1:77510218C>A	ENST00000477717.1	+	3	826	c.591C>A	c.(589-591)ccC>ccA	p.P197P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	197					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGTGCTGCCCCGGCTGAAGG	0.577																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(589-591)ccC>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							112	113	113					1																	77510218		2203	4300	6503	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510218C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.591C>A	1.37:g.77510218C>A			Somatic					p.P197P	NM_030965.1	NP_112227.1	WXS	Illumina GAIIx	Phase_I	Q9BVH7	SIA7E_HUMAN			3	826	+			197					B1AK82	Silent	SNP	ENST00000477717.1	37	c.591C>A	CCDS673.1																																																																																				0.577	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		6	235	6	235	---	---	---	---	A	77510218	C	A	77510218	2	1	9	1	0	0	0	0	0	0	0	1	15226	610	22	1		1	ST6GALNAC5	1	77510218	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8603533	77510218	171740403	36	275										
ZNF644	84146	broad.mit.edu	37	chr1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagggcattttaccactgccCcatgtgcaatgcctcgatgg	10	12	0	0	rs201083603		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.chr1:91405265C>A	ENST00000370440.1	-	3	1863	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	549					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)		TACCACTGCCCCATGTGCAAT	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.(1645-1647)gGg>gTg		zinc finger protein 644							95	92	93					1																	91405265		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405265C>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.1646G>T	1.37:g.91405265C>A	ENSP00000359469:p.Gly549Val		Somatic				ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron	p.G549V			WXS	Illumina GAIIx	Phase_I	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	1863	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	549					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1646G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966108	0.53507	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00620	6.17;6.17	5.87	5.87	0.94306	.	0.112447	0.64402	D	0.000008	T	0.02418	0.0074	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60652	-0.7221	10	0.51188	T	0.08	-13.6548	20.2245	0.98337	0.0:1.0:0.0:0.0	.	549	Q9H582	ZN644_HUMAN	V	549;549;121	ENSP00000359469:G549V;ENSP00000337008:G549V	ENSP00000337008:G549V	G	-	2	0	ZNF644	91177853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.359000	0.66074	2.770000	0.95276	0.650000	0.86243	GGG		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		7	258	7	258	---	---	---	---	A	91405265	C	A	91405265	3	1	9	1	0	0	0	0	1	0	0	0	18057	623	22	1	2353	1	ZNF644	1	91405265	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	13895047	91405265	157845356	37	276										
ABCA4	24	broad.mit.edu	37	chr1	94517240	94517240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaaagtaccaaggaagtgGggttccatagtctcctaaaa	10	7	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.chr1:94517240G>T	ENST00000370225.3	-	17	2688	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T	ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	868					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)		CAAGGAAGTGGGGTTCCATAG	0.398																																						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.(2602-2604)Cca>Aca		ATP-binding cassette, sub-family A (ABC1), member 4							72	67	69					1																	94517240		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.chr1:94517240G>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.2602C>A	1.37:g.94517240G>T	ENSP00000359245:p.Pro868Thr		Somatic				ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	p.P868T	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	17	2688	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	868					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2602C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075665	0.76415	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	T;T	0.76316	-1.01;-1.01	5.82	4.89	0.63831	.	0.297230	0.38436	N	0.001684	T	0.72692	0.3492	L	0.61218	1.895	0.29933	N	0.821776	D;B	0.55800	0.973;0.135	P;B	0.47864	0.559;0.156	T	0.72877	-0.4159	10	0.87932	D	0	.	16.8766	0.86053	0.0:0.1284:0.8716:0.0	.	794;868	F5H6E5;P78363	.;ABCA4_HUMAN	T	868;794	ENSP00000359245:P868T;ENSP00000437682:P794T	ENSP00000359245:P868T	P	-	1	0	ABCA4	94289828	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.532000	0.67154	1.438000	0.47492	0.655000	0.94253	CCA		0.398	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	100	5	100	---	---	---	---	T	94517240	G	T	94517240	3	4	9	1	0	0	0	0	1	0	0	0	34	1232	43	1	4355	1	ABCA4	1	94517240	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3111975	94517240	154733381	38	277										
COL11A1	1301	broad.mit.edu	37	chr1	103462681	103462681	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttctttcccaggatgaccCtatatttagcaaaaacatac	4	12	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.chr1:103462681C>A	ENST00000370096.3	-	26	2509		c.e26-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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)		CAGGATGACCCTATATTTAGC	0.318																																						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.e26-1		collagen, type XI, alpha 1							128	146	140					1																	103462681		2203	4299	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.chr1:103462681C>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.2197-1G>T	1.37:g.103462681C>A			Somatic				COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site		NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	26	2550	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941708	0.73557	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9268	0.88986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103235269	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	7.214000	0.77958	2.230000	0.72887	0.455000	0.32223	.		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	8	529	8	529	---	---	---	---	A	103462681	C	A	103462681	5	1	9	1	0	0	0	0	0	0	1	0	3667	695	24	1	3392	1	COL11A1	1	103462681	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8945441	103462681	145787940	39	278										
AMY2B	280	broad.mit.edu	37	chr1	104117851	104117851	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttcaaaaataggaactgGggagaaggttggggtttcat	13	3	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.chr1:104117851G>T	ENST00000361355.4	+	8	1501	c.885G>T	c.(883-885)tgG>tgT	p.W295C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	295					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)		ATAGGAACTGGGGAGAAGGTT	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.(883-885)tgG>tgT		amylase, alpha 2B (pancreatic)							257	264	262					1																	104117851		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117851G>T	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.885G>T	1.37:g.104117851G>T	ENSP00000354610:p.Trp295Cys		Somatic				AMY2B_ENST00000491397.1_3'UTR	p.W295C	NM_020978.3	NP_066188.1	WXS	Illumina GAIIx	Phase_I	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1501	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	295					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.885G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307490	0.81247	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	5.26	5.26	0.73747	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);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98519	1.0622	10	0.87932	D	0	.	18.939	0.92598	0.0:0.0:1.0:0.0	.	295	P19961	AMY2B_HUMAN	C	295	ENSP00000354610:W295C	ENSP00000354610:W295C	W	+	3	0	AMY2B	103919374	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.793000	0.99091	2.462000	0.83206	0.558000	0.71614	TGG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		15	1340	15	1340	---	---	---	---	T	104117851	G	T	104117851	3	4	9	1	0	0	0	0	1	0	0	0	595	1241	43	1	907	1	AMY2B	1	104117851	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	655170	104117851	145132770	40	279										
VAV3	10451	broad.mit.edu	37	chr1	108185310	108185310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggcctggagctgtaaaggGggtccttcatgcagagctgg	16	10	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.chr1:108185310G>T	ENST00000370056.4	-	20	2119	c.1845C>A	c.(1843-1845)ccC>ccA	p.P615P	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000527011.1_Silent_p.P615P	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	615	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)		GCTGTAAAGGGGGTCCTTCAT	0.478																																						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.(1843-1845)ccC>ccA		vav 3 guanine nucleotide exchange factor							118	114	115					1																	108185310		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.chr1:108185310G>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.1845C>A	1.37:g.108185310G>T			Somatic				VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000343258.4_5'UTR	p.P615P	NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	2119	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	615			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1845C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	1.534	-0.543686	0.04053	.	.	ENSG00000134215	ENST00000529809	T	0.70164	-0.46	5.52	-3.51	0.04696	.	0.050546	0.85682	D	0.000000	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52653	-0.8547	7	0.87932	D	0	.	0.7898	0.01056	0.3448:0.1008:0.2366:0.3177	.	.	.	.	H	143	ENSP00000431544:P143H	ENSP00000434944:P40H	P	-	2	0	VAV3	107986833	0.963000	0.33076	0.417000	0.26559	0.088000	0.18126	-0.100000	0.10990	-0.484000	0.06763	-1.105000	0.02106	CCC		0.478	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		6	203	6	203	---	---	---	---	T	108185310	G	T	108185310	2	4	9	1	0	0	0	0	0	0	0	1	17130	1219	43	1		1	VAV3	1	108185310	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4067459	108185310	141065311	41	280										
CSF1	1435	broad.mit.edu	37	chr1	110466551	110466551	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcgggcagcgtgctgccCcttggggagctggagggcag	18	12	0	0	rs151241389		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.chr1:110466551C>A	ENST00000329608.6	+	6	1699	c.1308C>A	c.(1306-1308)ccC>ccA	p.P436P	CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	436					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)		GCGTGCTGCCCCTTGGGGAGC	0.682																																						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.(1306-1308)ccC>ccA		colony stimulating factor 1 (macrophage)							53	68	63					1																	110466551		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:110466551C>A	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.1308C>A	1.37:g.110466551C>A			Somatic				CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron	p.P436P	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	WXS	Illumina GAIIx	Phase_I	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	1699	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	436					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.1308C>A	CCDS816.1																																																																																				0.682	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		5	132	5	132	---	---	---	---	A	110466551	C	A	110466551	2	1	9	1	0	0	0	0	0	0	0	1	3931	610	22	1		1	CSF1	1	110466551	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2281241	110466551	138784070	42	281										
AHCYL1	10768	broad.mit.edu	37	chr1	110562206	110562206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactctataatgcacccgagGggcgatacaagcaggatgtg	12	9	1	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.chr1:110562206G>T	ENST00000369799.5	+	15	1790	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W|AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	475					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)		TGCACCCGAGGGGCGATACAA	0.408																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1423-1425)Ggg>Tgg		adenosylhomocysteinase-like 1							136	142	140					1																	110562206		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110562206G>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.1423G>T	1.37:g.110562206G>T	ENSP00000358814:p.Gly475Trp		Somatic				AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W	p.G475W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	WXS	Illumina GAIIx	Phase_I	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)	15	1790	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	475					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1423G>T	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160017	0.94727	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78816	-1.21;-1.21;-1.21	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.92252	0.5809	10	0.87932	D	0	-9.2943	20.8794	0.99867	0.0:0.0:1.0:0.0	.	475	O43865	SAHH2_HUMAN	W	475;428;428	ENSP00000358814:G475W;ENSP00000352092:G428W;ENSP00000377238:G428W	ENSP00000352092:G428W	G	+	1	0	AHCYL1	110363729	1.000000	0.71417	0.985000	0.45067	0.859000	0.49053	9.837000	0.99465	2.941000	0.99782	0.655000	0.94253	GGG		0.408	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			7	267	7	267	---	---	---	---	T	110562206	G	T	110562206	3	4	9	1	0	0	0	0	1	0	0	0	410	1232	43	1	1481	1	AHCYL1	1	110562206	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	95655	110562206	138688415	43	282										
SLC16A4	9122	broad.mit.edu	37	chr1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgacatgatggatccaatCcaaccaatttgctctgaggt	9	9	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.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|SLC16A4_ENST00000497687.1_Intron	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		Somatic				SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	WXS	Illumina GAIIx	Phase_I	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	62	156	---	---	---	---	G	110925493	C	G	110925493	3	3	9	1	0	0	0	0	1	0	0	0	14410	856	30	4	1308	4	SLC16A4	1	110925493	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	363287	110925493	138325128	44	283										
CEPT1	10390	broad.mit.edu	37	chr1	111703854	111703854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttttttgttgttttgcgGggacatttatgttctattgt	10	3	1	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.chr1:111703854G>T	ENST00000545121.1	+	4	773	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	189					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|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)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TTGTTTTGCGGGGACATTTAT	0.383																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(565-567)Ggg>Tgg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						218	218	218					1																	111703854		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111703854G>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.565G>T	1.37:g.111703854G>T	ENSP00000441980:p.Gly189Trp		Somatic				CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	p.G189W	NM_001007794.1	NP_001007795.1	WXS	Illumina GAIIx	Phase_I	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	4	773	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	189					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.565G>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761371	0.89932	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56805	-0.7918	10	0.42905	T	0.14	-24.656	17.2447	0.87025	0.0:0.0:1.0:0.0	.	189	Q9Y6K0	CEPT1_HUMAN	W	189	ENSP00000441980:G189W;ENSP00000349696:G189W	ENSP00000349696:G189W	G	+	1	0	CEPT1	111505377	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.461000	0.97646	2.671000	0.90904	0.555000	0.69702	GGG		0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		9	575	9	575	---	---	---	---	T	111703854	G	T	111703854	3	4	9	1	0	0	0	0	1	0	0	0	3264	1232	43	1	575	1	CEPT1	1	111703854	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	778361	111703854	137546767	45	284										
DCLRE1B	64858	broad.mit.edu	37	chr1	114454708	114454708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctagctactgaattcagGggtctagcactcaaatatct	7	10	5	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.chr1:114454708G>T	ENST00000369563.3	+	4	1940	c.1494G>T	c.(1492-1494)agG>agT	p.R498S	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	498					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)		CTGAATTCAGGGGTCTAGCAC	0.507								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.(1492-1494)agG>agT	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							100	106	104					1																	114454708		2203	4300	6503	SO:0001583	missense	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.chr1:114454708G>T	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.1494G>T	1.37:g.114454708G>T	ENSP00000358576:p.Arg498Ser		Somatic				DCLRE1B_ENST00000466480.1_Intron	p.R498S	NM_022836.3	NP_073747.1	WXS	Illumina GAIIx	Phase_I	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)	4	1940	+	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)	498					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1494G>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361440	0.24684	.	.	ENSG00000118655	ENST00000369563	T	0.74315	-0.83	5.85	0.193	0.15139	.	0.972762	0.08472	N	0.940859	T	0.35480	0.0933	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23226	-1.0194	10	0.56958	D	0.05	-12.0474	1.1159	0.01714	0.2901:0.1479:0.4098:0.1522	.	498	Q9H816	DCR1B_HUMAN	S	498	ENSP00000358576:R498S	ENSP00000358576:R498S	R	+	3	2	DCLRE1B	114256231	0.000000	0.05858	0.010000	0.14722	0.005000	0.04900	0.028000	0.13644	-0.216000	0.10048	-0.182000	0.12963	AGG		0.507	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		6	245	6	245	---	---	---	---	T	114454708	G	T	114454708	3	4	9	1	0	0	0	0	1	0	0	0	4295	1223	43	1	1508	1	DCLRE1B	1	114454708	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2750854	114454708	134795913	46	285										
AMPD1	270	broad.mit.edu	37	chr1	115222228	115222228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttataaaaatctcggtggGggttgtttttcagctccttt	10	6	2	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.chr1:115222228G>T	ENST00000520113.2	-	7	983	c.968C>A	c.(967-969)cCc>cAc	p.P323H	AMPD1_ENST00000369538.3_Missense_Mutation_p.P319H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	323					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)	ATCTCGGTGGGGGTTGTTTTT	0.433																																						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.(955-957)cCc>cAc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						101	110	107					1																	115222228		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.chr1:115222228G>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.968C>A	1.37:g.115222228G>T	ENSP00000430075:p.Pro323His		Somatic				AMPD1_ENST00000520113.2_Missense_Mutation_p.P323H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H	p.P319H	NM_001172626.1	NP_001166097.1	WXS	Illumina GAIIx	Phase_I	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)	6	1003	-	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)	290					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.956C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	30	5.053341	0.93793	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.92199	-2.99;-2.99;-2.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.964	D	0.95708	0.8755	10	0.56958	D	0.05	-18.4084	19.4763	0.94991	0.0:0.0:1.0:0.0	.	319;290	Q5TF02;P23109	.;AMPD1_HUMAN	H	323;319;290	ENSP00000430075:P323H;ENSP00000358551:P319H;ENSP00000316520:P290H	ENSP00000316520:P290H	P	-	2	0	AMPD1	115023751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.677000	0.91161	0.655000	0.94253	CCC		0.433	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			7	303	7	303	---	---	---	---	T	115222228	G	T	115222228	3	4	9	1	0	0	0	0	1	0	0	0	585	1232	43	1	1414	1	AMPD1	1	115222228	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	767520	115222228	134028393	47	286										
VANGL1	81839	broad.mit.edu	37	chr1	116202355	116202355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacctcccactggagagccCctgttgggaaatgattctac	9	13	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.chr1:116202355C>A	ENST00000355485.2	+	3	436	c.165C>A	c.(163-165)ccC>ccA	p.P55P	VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	55					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-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)		CTGGAGAGCCCCTGTTGGGAA	0.488																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(163-165)ccC>ccA		VANGL planar cell polarity protein 1							115	115	115					1																	116202355		2203	4300	6503	SO:0001819	synonymous_variant	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116202355C>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.165C>A	1.37:g.116202355C>A			Somatic				VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	WXS	Illumina GAIIx	Phase_I	Q8TAA9	VANG1_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)	3	436	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	55					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	c.165C>A	CCDS883.1																																																																																				0.488	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			6	190	6	190	---	---	---	---	A	116202355	C	A	116202355	2	1	9	1	0	0	0	0	0	0	0	1	17116	610	22	1		1	VANGL1	1	116202355	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	980127	116202355	133048266	48	287										
ATP1A1	476	broad.mit.edu	37	chr1	116931321	116931321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcggaggaagttgtggttgGggatctggtggaagtaaaag	19	2	1	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.chr1:116931321G>T	ENST00000295598.5	+	6	815	c.563G>T	c.(562-564)gGg>gTg	p.G188V	ATP1A1_ENST00000537345.1_Missense_Mutation_p.G188V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	188					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTTGTGGTTGGGGATCTGGTG	0.418																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(562-564)gGg>gTg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						108	113	111					1																	116931321		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116931321G>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.563G>T	1.37:g.116931321G>T	ENSP00000295598:p.Gly188Val		Somatic				ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G188V	p.G188V	NM_001160233.1	NP_001153705.1	WXS	Illumina GAIIx	Phase_I	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	6	926	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	188					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.563G>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258385	0.80246	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.97352	-4.35;-4.35;-4.35	5.17	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	0.99174	0.9714	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98352	1.0544	10	0.87932	D	0	.	14.2704	0.66149	0.0734:0.0:0.9266:0.0	.	188;188	F5H3A1;P05023	.;AT1A1_HUMAN	V	188;188;187;157	ENSP00000295598:G188V;ENSP00000445306:G188V;ENSP00000358508:G157V	ENSP00000295598:G188V	G	+	2	0	ATP1A1	116732844	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	7.810000	0.86072	2.676000	0.91093	0.655000	0.94253	GGG		0.418	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		7	271	7	271	---	---	---	---	T	116931321	G	T	116931321	3	4	9	1	0	0	0	0	1	0	0	0	1128	1232	43	1	601	1	ATP1A1	1	116931321	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	728966	116931321	132319300	49	288										
ATP1A1	476	broad.mit.edu	37	chr1	116932153	116932153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggaaggaggccagaccCccattgctgcagaaattgaa	13	10	0	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.chr1:116932153C>A	ENST00000295598.5	+	8	1099	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000537345.1_Missense_Mutation_p.P283T|ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	283					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGCCAGACCCCCATTGCTGC	0.493																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(847-849)Ccc>Acc		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						239	211	221					1																	116932153		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932153C>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.847C>A	1.37:g.116932153C>A	ENSP00000295598:p.Pro283Thr		Somatic				ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.P283T	p.P283T	NM_001160233.1	NP_001153705.1	WXS	Illumina GAIIx	Phase_I	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	8	1210	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	283					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.847C>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680570	0.88542	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.91686	-2.89;-2.89;-2.89	5.18	4.24	0.50183	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95529	0.8601	10	0.87932	D	0	.	14.2857	0.66245	0.0:0.9268:0.0:0.0732	.	283;283	F5H3A1;P05023	.;AT1A1_HUMAN	T	283;283;282;252	ENSP00000295598:P283T;ENSP00000445306:P283T;ENSP00000358508:P252T	ENSP00000295598:P283T	P	+	1	0	ATP1A1	116733676	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.927000	0.70080	2.703000	0.92315	0.585000	0.79938	CCC		0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		7	227	7	227	---	---	---	---	A	116932153	C	A	116932153	3	1	9	1	0	0	0	0	1	0	0	0	1128	623	22	1	893	1	ATP1A1	1	116932153	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	832	116932153	132318468	50	289										
PTGFRN	5738	broad.mit.edu	37	chr1	117516926	117516926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctgtatcatcactgtcgaGggagcagcactggatccagg	12	10	3	0	rs142086076	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.chr1:117516926G>T	ENST00000393203.2	+	7	2295	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	716	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)		TCACTGTCGAGGGAGCAGCAC	0.438																																						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.(2146-2148)gaG>gaT		prostaglandin F2 receptor inhibitor							190	186	187					1																	117516926		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516926G>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.2148G>T	1.37:g.117516926G>T	ENSP00000376899:p.Glu716Asp		Somatic				PTGFRN_ENST00000496699.1_3'UTR	p.E716D	NM_020440.2	NP_065173.2	WXS	Illumina GAIIx	Phase_I	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2295	+	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)	716			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2148G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596882	0.28445	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.54279	0.58	5.34	-5.62	0.02481	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382375	0.27936	N	0.017251	T	0.06234	0.0161	N	0.01874	-0.695	0.29790	N	0.833282	B	0.02656	0.0	B	0.04013	0.001	T	0.27088	-1.0084	10	0.28530	T	0.3	-14.5268	6.4857	0.22087	0.2714:0.3931:0.3355:0.0	.	716	Q9P2B2	FPRP_HUMAN	D	716;575	ENSP00000376899:E716D	ENSP00000376899:E716D	E	+	3	2	PTGFRN	117318449	0.876000	0.30132	0.724000	0.30704	0.960000	0.62799	-0.155000	0.10115	-0.820000	0.04318	-0.312000	0.09012	GAG		0.438	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		6	240	6	240	---	---	---	---	T	117516926	G	T	117516926	3	4	9	1	0	0	0	0	1	0	0	0	12750	991	35	1	2174	1	PTGFRN	1	117516926	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	584773	117516926	131733695	51	290										
PTGFRN	5738	broad.mit.edu	37	chr1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaggaggttcaggagacaCggcgcgagcgccgcaggctc	17	11	1	2	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		Somatic					p.R867W	NM_020440.2	NP_065173.2	WXS	Illumina GAIIx	Phase_I	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	56	108	---	---	---	---	T	117529548	C	T	117529548	3	4	9	1	0	0	0	0	1	0	0	0	12750	527	19	2	2633	2	PTGFRN	1	117529548	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	12622	117529548	131721073	52	291										
MAN1A2	10905	broad.mit.edu	37	chr1	117944807	117944807	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatttccttcttttctcacaGggaagaggaagaacgtctga	9	8	3	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.chr1:117944807G>T	ENST00000356554.3	+	2	1037		c.e2-1		MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTTTCTCACAGGGAAGAGGAA	0.353																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.e2-1		mannosidase, alpha, class 1A, member 2							55	58	57					1																	117944807		2197	4298	6495	SO:0001630	splice_region_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944807G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.303-1G>T	1.37:g.117944807G>T			Somatic				MAN1A2_ENST00000482811.1_Intron		NM_006699.3	NP_006690.1	WXS	Illumina GAIIx	Phase_I	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1037	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)						Q9H510	Splice_Site	SNP	ENST00000356554.3	37		CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233568	0.79688	.	.	ENSG00000198162	ENST00000356554	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2254	0.86969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1A2	117746330	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	9.311000	0.96282	2.665000	0.90641	0.585000	0.79938	.		0.353	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Intron	4	159	4	159	---	---	---	---	T	117944807	G	T	117944807	5	4	9	1	0	0	0	0	0	0	1	0	9211	1014	35	1	308	1	MAN1A2	1	117944807	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	415259	117944807	131305814	53	292										
PDE4DIP	9659	broad.mit.edu	37	chr1	144882782	144882782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctcaaccatcacctcgccCttctccttgtcttcctcgat	4	18	4	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.chr1:144882782C>A	ENST00000369354.3	-	24	3426	c.3237G>T	c.(3235-3237)aaG>aaT	p.K1079N	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1079					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)		TCACCTCGCCCTTCTCCTTGT	0.517			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.(3646-3648)aaG>aaT		phosphodiesterase 4D interacting protein							300	269	279					1																	144882782		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882782C>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.3237G>T	1.37:g.144882782C>A	ENSP00000358360:p.Lys1079Asn		Somatic				PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1079N	p.K1216N			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	3686	-			1079					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.3648G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851377	0.71719	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.75;4.75;4.75	5.91	4.05	0.47172	.	.	.	.	.	T	0.02610	0.0079	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.649;0.999	B;D	0.81914	0.295;0.995	T	0.55611	-0.8114	9	0.34782	T	0.22	.	5.8067	0.18444	0.1565:0.6866:0.0:0.1569	.	1145;1079	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1145;1079;1079;1216;1216	ENSP00000327209:K1145N;ENSP00000358360:K1079N;ENSP00000358363:K1079N;ENSP00000435654:K1216N;ENSP00000358366:K1216N	ENSP00000327209:K1145N	K	-	3	2	PDE4DIP	143594139	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.540000	0.23191	0.854000	0.35336	0.655000	0.94253	AAG		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	792	10	792	---	---	---	---	A	144882782	C	A	144882782	3	1	9	1	0	0	0	0	1	0	0	0	11643	680	24	1	3887	1	PDE4DIP	1	144882782	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	26937975	144882782	104367839	54	293										
POLR3C	10623	broad.mit.edu	37	chr1	145601557	145601557	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagacaatggctgggtgaaGggagcactagaggaagtggt	18	4	0	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.chr1:145601557G>T	ENST00000334163.3	-	7	1009	c.849C>A	c.(847-849)ccC>ccA	p.P283P	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	283					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)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGGGTGAAGGGAGCACTAG	0.418																																						ENST00000334163.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(847-849)ccC>ccA		polymerase (RNA) III (DNA directed) polypeptide C (62kD)							172	155	161					1																	145601557		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145601557G>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.849C>A	1.37:g.145601557G>T			Somatic				POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P	p.P283P	NM_006468.6	NP_006459.3	WXS	Illumina GAIIx	Phase_I	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		7	1009	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		283					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.849C>A	CCDS921.1																																																																																				0.418	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		5	118	5	118	---	---	---	---	T	145601557	G	T	145601557	2	4	9	1	0	0	0	0	0	0	0	1	12230	987	35	1		1	POLR3C	1	145601557	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	718775	145601557	103649064	55	294										
TCHHL1	126637	broad.mit.edu	37	chr1	152057837	152057837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttttcaagacttgaccagGggactgaagaattgtgctct	11	8	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.chr1:152057837G>T	ENST00000368806.1	-	3	2385	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	774							calcium ion binding (GO:0005509)	p.P774H(1)		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)			ACTTGACCAGGGGACTGAAGA	0.502																																						ENST00000368806.1																			1	Substitution - Missense(1)	p.P774H(1)	lung(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2320-2322)cCc>cAc		trichohyalin-like 1							151	142	145					1																	152057837		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057837G>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.2321C>A	1.37:g.152057837G>T	ENSP00000357796:p.Pro774His		Somatic					p.P774H	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2385	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		774					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2321C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.106439	0.37145	.	.	ENSG00000182898	ENST00000368806	T	0.26223	1.75	4.01	1.9	0.25705	.	0.639949	0.13023	N	0.419922	T	0.07188	0.0182	L	0.40543	1.245	0.09310	N	1	B	0.23591	0.088	B	0.21917	0.037	T	0.26538	-1.0100	10	0.51188	T	0.08	1.7401	3.9979	0.09566	0.1248:0.0:0.641:0.2342	.	774	Q5QJ38	TCHL1_HUMAN	H	774	ENSP00000357796:P774H	ENSP00000357796:P774H	P	-	2	0	TCHHL1	150324461	0.405000	0.25336	0.019000	0.16419	0.003000	0.03518	0.701000	0.25616	0.989000	0.38761	0.655000	0.94253	CCC		0.502	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		8	316	8	316	---	---	---	---	T	152057837	G	T	152057837	3	4	9	1	0	0	0	0	1	0	0	0	15698	1232	43	1	397	1	TCHHL1	1	152057837	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6456280	152057837	97192784	56	295										
TCHHL1	126637	broad.mit.edu	37	chr1	152057905	152057905	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttctcctgccagctcttgGggactttcatcttcctcctc	6	17	4	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.chr1:152057905G>T	ENST00000368806.1	-	3	2317	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	751							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)			CCAGCTCTTGGGGACTTTCAT	0.453																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2251-2253)ccC>ccA		trichohyalin-like 1							146	147	147					1																	152057905		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152057905G>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.2253C>A	1.37:g.152057905G>T			Somatic					p.P751P	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		751					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2253C>A	CCDS30857.1																																																																																				0.453	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	399	10	399	---	---	---	---	T	152057905	G	T	152057905	2	4	9	1	0	0	0	0	0	0	0	1	15698	1219	43	1		1	TCHHL1	1	152057905	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	68	152057905	97192716	57	296										
RPTN	126638	broad.mit.edu	37	chr1	152127798	152127798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggaagtacttattttgccCttgtatttccccagtctgtg	8	9	1	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.chr1:152127798C>A	ENST00000316073.3	-	3	1841	c.1777G>T	c.(1777-1779)Ggg>Tgg	p.G593W		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	593	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						TTATTTTGCCCTTGTATTTCC	0.458																																						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.(1777-1779)Ggg>Tgg		repetin							362	325	336					1																	152127798		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127798C>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.1777G>T	1.37:g.152127798C>A	ENSP00000317895:p.Gly593Trp		Somatic					p.G593W	NM_001122965.1	NP_001116437.1	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			3	1841	-			593			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1777G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350016	0.24426	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.58060	0.36	4.71	0.718	0.18202	.	0.565703	0.13061	U	0.416875	T	0.40815	0.1132	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.65573	0.936	T	0.16958	-1.0385	10	0.66056	D	0.02	-0.777	6.9207	0.24387	0.0:0.5115:0.0:0.4885	.	593	Q6XPR3	RPTN_HUMAN	W	593;248	ENSP00000317895:G593W	ENSP00000317895:G593W	G	-	1	0	RPTN	150394422	0.000000	0.05858	0.007000	0.13788	0.332000	0.28634	-0.568000	0.05909	0.099000	0.17552	-0.499000	0.04595	GGG		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	560	9	560	---	---	---	---	A	152127798	C	A	152127798	3	1	9	1	0	0	0	0	1	0	0	0	13664	681	24	1	581	1	RPTN	1	152127798	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	69893	152127798	97122823	58	297										
HRNR	388697	broad.mit.edu	37	chr1	152188056	152188056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgcagaaccatgttgccCatgggtagaggaatgacctg	13	8	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.chr1:152188056C>A	ENST00000368801.2	-	3	6124	c.6049G>T	c.(6049-6051)Ggg>Tgg	p.G2017W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2017					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)			CCATGTTGCCCATGGGTAGAG	0.562																																						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.(6049-6051)Ggg>Tgg		hornerin							418	591	532					1																	152188056		2165	4191	6356	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188056C>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.6049G>T	1.37:g.152188056C>A	ENSP00000357791:p.Gly2017Trp		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2017W	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6124	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2017					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6049G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051075	0.08243	.	.	ENSG00000197915	ENST00000368801	T	0.03035	4.07	3.58	1.63	0.23807	.	.	.	.	.	T	0.04452	0.0122	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.36601	-0.9741	9	0.66056	D	0.02	.	7.7188	0.28721	0.0:0.7732:0.0:0.2268	.	2017	Q86YZ3	HORN_HUMAN	W	2017	ENSP00000357791:G2017W	ENSP00000357791:G2017W	G	-	1	0	HRNR	150454680	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.124000	0.10595	0.825000	0.34637	0.505000	0.49811	GGG		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	1601	17	1601	---	---	---	---	A	152188056	C	A	152188056	3	1	9	1	0	0	0	0	1	0	0	0	7359	594	21	1	2507	1	HRNR	1	152188056	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	60258	152188056	97062565	59	298										
HRNR	388697	broad.mit.edu	37	chr1	152195662	152195662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttcaacgtatcatactccCcatgctgggtggcatattgg	10	10	2	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.chr1:152195662C>A	ENST00000368801.2	-	2	143	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				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)			ATCATACTCCCCATGCTGGGT	0.418																																						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.(67-69)gGg>gTg		hornerin							168	154	159					1																	152195662		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152195662C>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.68G>T	1.37:g.152195662C>A	ENSP00000357791:p.Gly23Val		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G23V	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	143	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		23			EF-hand 1.|S-100-like.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.68G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814019	0.32053	.	.	ENSG00000197915	ENST00000368801	T	0.38240	1.15	5.4	1.01	0.19927	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.53045	0.1772	M	0.93763	3.455	0.51012	D	0.999909	D	0.89917	1.0	D	0.79108	0.992	T	0.57015	-0.7883	9	0.72032	D	0.01	.	6.4944	0.22133	0.0:0.555:0.0:0.445	.	23	Q86YZ3	HORN_HUMAN	V	23	ENSP00000357791:G23V	ENSP00000357791:G23V	G	-	2	0	HRNR	150462286	0.011000	0.17503	0.923000	0.36655	0.672000	0.39443	-0.270000	0.08584	0.348000	0.23949	0.591000	0.81541	GGG		0.418	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	241	7	241	---	---	---	---	A	152195662	C	A	152195662	3	1	9	1	0	0	0	0	1	0	0	0	7359	623	22	1	8492	1	HRNR	1	152195662	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7606	152195662	97054959	60	299										
FLG	2312	broad.mit.edu	37	chr1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacgaatggtgtcctgaccCtcttgggacgctgagtgcct	12	13	1	2	rs563905924	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.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	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.E3753D(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)			TGTCCTGACCCTCTTGGGACG	0.617									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.E3753D(1)	urinary_tract(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.(11257-11259)gaG>gaT		filaggrin							310	306	307					1																	152276103		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.chr1:152276103C>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.11259G>T	1.37:g.152276103C>A	ENSP00000357789:p.Glu3753Asp		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3753D	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11294	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3753			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11259G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973431	0.34848	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.08	-6.16	0.02098	.	.	.	.	.	T	0.01222	0.0040	L	0.41824	1.3	0.09310	N	1	D	0.59767	0.986	D	0.70227	0.968	T	0.14144	-1.0483	9	0.17832	T	0.49	.	7.7253	0.28757	0.0:0.2341:0.5945:0.1714	.	3753	P20930	FILA_HUMAN	D	3753	ENSP00000357789:E3753D	ENSP00000357789:E3753D	E	-	3	2	FLG	150542727	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.812000	0.00754	-1.560000	0.01686	0.552000	0.68991	GAG		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	710	9	710	---	---	---	---	A	152276103	C	A	152276103	3	1	9	1	0	0	0	0	1	0	0	0	5922	680	24	1	930	1	FLG	1	152276103	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	80441	152276103	96974518	61	300										
FLG	2312	broad.mit.edu	37	chr1	152277601	152277601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcttcgtgatgggacctgGggtgtctggagccgtgcctt	16	9	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.chr1:152277601G>T	ENST00000368799.1	-	3	9796	c.9761C>A	c.(9760-9762)cCc>cAc	p.P3254H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3254	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.P3254H(2)		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)			ATGGGACCTGGGGTGTCTGGA	0.582									Ichthyosis																													ENST00000368799.1																			2	Substitution - Missense(2)	p.P3254H(2)	lung(2)	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.(9760-9762)cCc>cAc		filaggrin							232	236	235					1																	152277601		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.chr1:152277601G>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.9761C>A	1.37:g.152277601G>T	ENSP00000357789:p.Pro3254His		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.P3254H	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9796	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3254			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9761C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822776	0.16678	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01685	4.69	2.56	-2.45	0.06481	.	.	.	.	.	T	0.01905	0.0060	M	0.68317	2.08	0.09310	N	1	D	0.64830	0.994	D	0.71414	0.973	T	0.38802	-0.9644	9	0.62326	D	0.03	-0.3832	0.6189	0.00775	0.2507:0.1735:0.3764:0.1994	.	3254	P20930	FILA_HUMAN	H	3254;192	ENSP00000357789:P3254H	ENSP00000357786:P192H	P	-	2	0	FLG	150544225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.022000	0.03611	-0.560000	0.06102	-0.507000	0.04495	CCC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	589	9	589	---	---	---	---	T	152277601	G	T	152277601	3	4	9	1	0	0	0	0	1	0	0	0	5922	1232	43	1	2428	1	FLG	1	152277601	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1498	152277601	96973020	62	301										
FLG	2312	broad.mit.edu	37	chr1	152280128	152280128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctggtagaggaaagaccCtgaacgtccagaccttcctg	10	13	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.chr1:152280128C>A	ENST00000368799.1	-	3	7269	c.7234G>T	c.(7234-7236)Ggg>Tgg	p.G2412W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2412	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)			AGGAAAGACCCTGAACGTCCA	0.602									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.(7234-7236)Ggg>Tgg		filaggrin							158	153	154					1																	152280128		2203	4297	6500	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.chr1:152280128C>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.7234G>T	1.37:g.152280128C>A	ENSP00000357789:p.Gly2412Trp		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2412W	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7269	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2412			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7234G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040792	0.19669	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.02552	4.25	3.6	1.55	0.23275	.	.	.	.	.	T	0.06142	0.0159	M	0.79123	2.44	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.12451	-1.0547	9	0.87932	D	0	.	9.6051	0.39628	0.0:0.5262:0.4738:0.0	.	2412	P20930	FILA_HUMAN	W	2412;322	ENSP00000357789:G2412W	ENSP00000271820:G322W	G	-	1	0	FLG	150546752	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.215000	0.09279	0.270000	0.21984	0.485000	0.47835	GGG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	332	6	332	---	---	---	---	A	152280128	C	A	152280128	3	1	9	1	0	0	0	0	1	0	0	0	5922	681	24	1	4955	1	FLG	1	152280128	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2527	152280128	96970493	63	302										
FLG	2312	broad.mit.edu	37	chr1	152284559	152284559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgcctgcttgtcctggaccCctctgattgtccctggcctg	11	16	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.chr1:152284559C>A	ENST00000368799.1	-	3	2838	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	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	935	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.G935W(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)			GTCCTGGACCCCTCTGATTGT	0.572									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.G935W(1)	large_intestine(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.(2803-2805)Ggg>Tgg		filaggrin							325	300	309					1																	152284559		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.chr1:152284559C>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.2803G>T	1.37:g.152284559C>A	ENSP00000357789:p.Gly935Trp		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G935W	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2838	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		935			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2803G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	3.326	-0.137714	0.06711	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01787	4.64	2.81	0.827	0.18835	.	.	.	.	.	T	0.02649	0.0080	M	0.78916	2.43	0.09310	N	1	D	0.71674	0.998	D	0.63793	0.918	T	0.36939	-0.9727	9	0.72032	D	0.01	.	4.6164	0.12428	0.0:0.6682:0.0:0.3318	.	935	P20930	FILA_HUMAN	W	935;142	ENSP00000357789:G935W	ENSP00000357789:G935W	G	-	1	0	FLG	150551183	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.628000	0.24522	-0.007000	0.14345	0.473000	0.43528	GGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	580	9	580	---	---	---	---	A	152284559	C	A	152284559	3	1	9	1	0	0	0	0	1	0	0	0	5922	623	22	1	9386	1	FLG	1	152284559	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4431	152284559	96966062	64	303										
LCE2A	353139	broad.mit.edu	37	chr1	152671631	152671631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggcaccggcaccagagccCcgattgttgtgagtgtgaac	13	13	0	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.chr1:152671631C>A	ENST00000368779.1	+	2	305	c.254C>A	c.(253-255)cCc>cAc	p.P85H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCAGAGCCCCGATTGTTGT	0.652																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(253-255)cCc>cAc		late cornified envelope 2A							41	49	46					1																	152671631		2203	4298	6501	SO:0001583	missense	353139				keratinization			g.chr1:152671631C>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.254C>A	1.37:g.152671631C>A	ENSP00000357768:p.Pro85His		Somatic					p.P85H	NM_178428.3	NP_848515.1	WXS	Illumina GAIIx	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	305	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		85			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.254C>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	C	2.264	-0.368685	0.05069	.	.	ENSG00000187173	ENST00000368779	T	0.03635	3.86	4.72	3.81	0.43845	.	.	.	.	.	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	1	P	0.43169	0.8	B	0.42163	0.378	T	0.45920	-0.9228	9	0.13853	T	0.58	.	8.5257	0.33304	0.0:0.8907:0.0:0.1093	.	85	Q5TA79	LCE2A_HUMAN	H	85	ENSP00000357768:P85H	ENSP00000357768:P85H	P	+	2	0	LCE2A	150938255	0.000000	0.05858	0.014000	0.15608	0.154000	0.21943	0.483000	0.22292	0.948000	0.37687	0.650000	0.86243	CCC		0.652	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	91	5	91	---	---	---	---	A	152671631	C	A	152671631	3	1	9	1	0	0	0	0	1	0	0	0	8665	623	22	1	256	1	LCE2A	1	152671631	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	387072	152671631	96578990	65	304										
LCE1C	353133	broad.mit.edu	37	chr1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagcctccagagtgctggcCactccccccgccacagcagc	10	20	0	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.chr1:152777624C>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		Somatic				LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	p.G111S	NM_178351.3	NP_848128.1	WXS	Illumina GAIIx	Phase_I	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	14	39	---	---	---	---	T	152777624	C	T	152777624	3	4	9	1	0	0	0	0	1	0	0	0	8661	594	21	2	29	2	LCE1C	1	152777624	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	105993	152777624	96472997	66	305										
LCE1A	353131	broad.mit.edu	37	chr1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgctgtggaggggacagcGgccagcactctggaggctgc	18	11	1	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		Somatic					p.G103S	NM_178348.2	NP_848125.1	WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	A	152800255	G	A	152800255	3	1	9	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	67	306										
NUP210L	91181	broad.mit.edu	37	chr1	153998193	153998193	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacgaaggcagctccttccCtagggaacaaggaaaggaag	12	10	1	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.chr1:153998193C>A	ENST00000368559.3	-	30	4019		c.e30-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						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)			AGCTCCTTCCCTAGGGAACAA	0.473																																						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.e30-1		nucleoporin 210kDa-like							178	165	169					1																	153998193		1891	4130	6021	SO:0001630	splice_region_variant	91181					integral to membrane		g.chr1:153998193C>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.3948-1G>T	1.37:g.153998193C>A			Somatic				NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site		NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4019	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Splice_Site	SNP	ENST00000368559.3	37		CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319355	0.81469	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6815	0.88245	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210L	152264817	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.900000	0.63252	2.714000	0.92807	0.561000	0.74099	.		0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	Intron	7	333	7	333	---	---	---	---	A	153998193	C	A	153998193	5	1	9	1	0	0	0	0	0	0	1	0	10761	695	24	1	1763	1	NUP210L	1	153998193	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1197938	153998193	95252428	68	307										
C1orf189	388701	broad.mit.edu	37	chr1	154173005	154173005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatccttagggtggcatacGggtttcttctctggcccaat	11	11	2	0	rs191282756		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.chr1:154173005G>T	ENST00000368525.3	-	3	159	c.134C>A	c.(133-135)cCg>cAg	p.P45Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	45										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)					GGTGGCATACGGGTTTCTTCT	0.517																																						ENST00000368525.3																			0				kidney(1)|large_intestine(3)|lung(1)|skin(2)	7						c.(133-135)cCg>cAg		chromosome 1 open reading frame 189							297	271	280					1																	154173005		2203	4300	6503	SO:0001583	missense	388701							g.chr1:154173005G>T		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.134C>A	1.37:g.154173005G>T	ENSP00000357511:p.Pro45Gln		Somatic					p.P45Q	NM_001010979.1	NP_001010979.1	WXS	Illumina GAIIx	Phase_I	Q5VU69	CA189_HUMAN			3	159	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		45					A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	c.134C>A	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966138	0.18659	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.82	1.82	0.25136	.	0.103254	0.64402	D	0.000002	T	0.20740	0.0499	L	0.40543	1.245	0.21290	N	0.999734	D	0.63880	0.993	P	0.62740	0.906	T	0.11012	-1.0605	9	0.14656	T	0.56	.	6.0449	0.19753	0.3493:0.0:0.6507:0.0	.	45	Q5VU69	CA189_HUMAN	Q	45	.	ENSP00000357511:P45Q	P	-	2	0	C1orf189	152439629	0.466000	0.25823	0.284000	0.24805	0.799000	0.45148	0.483000	0.22292	0.201000	0.20466	0.561000	0.74099	CCG		0.517	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979		9	468	9	468	---	---	---	---	T	154173005	G	T	154173005	3	4	9	1	0	0	0	0	1	0	0	0	2022	1116	39	1	179	1	C1orf189	1	154173005	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	174812	154173005	95077616	69	308										
ASH1L	55870	broad.mit.edu	37	chr1	155385613	155385613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgtgggggcttcttttccCttgggatgagagaaagcaca	14	8	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.chr1:155385613C>A	ENST00000368346.3	-	6	6569	c.5930G>T	c.(5929-5931)aGg>aTg	p.R1977M	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M|snoU13_ENST00000458873.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1977					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)			CTTCTTTTCCCTTGGGATGAG	0.453																																						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.(5929-5931)aGg>aTg		ash1 (absent, small, or homeotic)-like (Drosophila)							125	135	132					1																	155385613		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.chr1:155385613C>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.5930G>T	1.37:g.155385613C>A	ENSP00000357330:p.Arg1977Met		Somatic				ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M	p.R1977M			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		6	6569	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1977					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5930G>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.469389	0.84533	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.47869	0.83;0.83	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	N	0.24115	0.695	0.80722	D	1	D;D	0.60160	0.978;0.987	P;P	0.54460	0.57;0.753	T	0.40701	-0.9549	10	0.72032	D	0.01	.	16.1993	0.82057	0.0:1.0:0.0:0.0	.	1977;1977	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	M	1977	ENSP00000357330:R1977M;ENSP00000376204:R1977M	ENSP00000357330:R1977M	R	-	2	0	ASH1L	153652237	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.679000	0.68160	2.604000	0.88044	0.585000	0.79938	AGG		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	342	7	342	---	---	---	---	A	155385613	C	A	155385613	3	1	9	1	0	0	0	0	1	0	0	0	1041	681	24	1	3056	1	ASH1L	1	155385613	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1212608	155385613	93865008	70	309										
KIAA0907	22889	broad.mit.edu	37	chr1	155883915	155883915	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgttccactgtttcctaGggagccatccagaatggcat	9	12	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.chr1:155883915G>T	ENST00000368321.3	-	14	1865	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	RIT1_ENST00000368323.3_5'Flank|KIAA0907_ENST00000368320.3_3'UTR|RIT1_ENST00000539040.1_5'Flank	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	614							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)			CTGTTTCCTAGGGAGCCATCC	0.443																																						ENST00000368321.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1840-1842)ccC>ccA		KIAA0907							129	114	119					1																	155883915		2203	4300	6503	SO:0001819	synonymous_variant	22889							g.chr1:155883915G>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.1842C>A	1.37:g.155883915G>T			Somatic				KIAA0907_ENST00000368320.3_3'UTR	p.P614P	NM_014949.2	NP_055764.2	WXS	Illumina GAIIx	Phase_I	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1865	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		614					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1842C>A	CCDS30885.1																																																																																				0.443	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		6	173	6	173	---	---	---	---	T	155883915	G	T	155883915	2	4	9	1	0	0	0	0	0	0	0	1	8199	987	35	1		1	KIAA0907	1	155883915	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	498302	155883915	93366706	71	310										
PMF1	11243	broad.mit.edu	37	chr1	156203446	156203446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctgacatcaaagaggagGggaacctagaagctgtcttg	12	8	3	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.chr1:156203446G>T	ENST00000368273.4	+	3	311	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368277.3_Missense_Mutation_p.G99W|PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.G99R(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAAAGAGGAGGGGAACCTAGA	0.478																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			1	Substitution - Missense(1)	p.G99R(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(3)	6						c.(295-297)Ggg>Tgg		polyamine-modulated factor 1							148	157	154					1																	156203446		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156203446G>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.301G>T	1.37:g.156203446G>T	ENSP00000357256:p.Gly101Trp		Somatic				PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368273.4_Missense_Mutation_p.G101W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W	p.G99W	NM_007221.3	NP_009152.2	WXS	Illumina GAIIx	Phase_I					3	304	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368273.4	37	c.295G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061748	0.76187	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.73962	2.25	0.45464	D	0.998434	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.52155	-0.8613	10	0.87932	D	0	-13.2608	14.2769	0.66187	0.0:0.0:1.0:0.0	.	99;99;99	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	W	99;101;99;99;99	ENSP00000357262:G99W;ENSP00000357256:G101W;ENSP00000357260:G99W;ENSP00000357259:G99W;ENSP00000324909:G99W	ENSP00000324909:G99W	G	+	1	0	PMF1	154470070	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	5.794000	0.69067	2.463000	0.83235	0.491000	0.48974	GGG		0.478	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		6	310	6	310	---	---	---	---	T	156203446	G	T	156203446	3	4	9	1	0	0	0	0	1	0	0	0	12133	1232	43	1	305	1	PMF1	1	156203446	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	319531	156203446	93047175	72	311										
TMEM79	84283	broad.mit.edu	37	chr1	156255745	156255745	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatctacacactgcgctgcgGggtctttgccaccttcccca	9	16	2	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.chr1:156255745G>T	ENST00000405535.2	+	2	899	c.728G>T	c.(727-729)gGg>gTg	p.G243V	TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	243					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)					CTGCGCTGCGGGGTCTTTGCC	0.607																																						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.(727-729)gGg>gTg		transmembrane protein 79							108	110	109					1																	156255745		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255745G>T	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.728G>T	1.37:g.156255745G>T	ENSP00000384748:p.Gly243Val		Somatic				TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000495881.1_3'UTR	p.G243V	NM_032323.2	NP_115699.1	WXS	Illumina GAIIx	Phase_I	Q9BSE2	TMM79_HUMAN			2	899	+	Hepatocellular(266;0.158)		243					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.728G>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484759	0.63962	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.46819	0.86;0.86	5.65	4.73	0.59995	.	0.358324	0.29172	N	0.012940	T	0.18964	0.0455	N	0.19112	0.55	0.51767	D	0.999934	B	0.21606	0.058	B	0.22601	0.04	T	0.09100	-1.0690	10	0.66056	D	0.02	-14.0384	11.231	0.48912	0.0:0.1378:0.7193:0.1429	.	243	Q9BSE2	TMM79_HUMAN	V	243	ENSP00000295694:G243V;ENSP00000384748:G243V	ENSP00000295694:G243V	G	+	2	0	TMEM79	154522369	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	4.403000	0.59729	1.350000	0.45770	0.561000	0.74099	GGG		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		6	227	6	227	---	---	---	---	T	156255745	G	T	156255745	3	4	9	1	0	0	0	0	1	0	0	0	16200	1232	43	1	730	1	TMEM79	1	156255745	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	52299	156255745	92994876	73	312										
HAPLN2	60484	broad.mit.edu	37	chr1	156593630	156593630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcccccactacctcctgccCcccatccacgaggtcattca	6	21	2	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.chr1:156593630C>A	ENST00000255039.1	+	4	524	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	39	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(115-117)ccC>ccA		hyaluronan and proteoglycan link protein 2							9	10	10					1																	156593630		2090	4116	6206	SO:0001819	synonymous_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593630C>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.117C>A	1.37:g.156593630C>A			Somatic					p.P39P	NM_021817.2	NP_068589.1	WXS	Illumina GAIIx	Phase_I	Q9GZV7	HPLN2_HUMAN			4	524	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		39			Ig-like V-type.		Q5T3J0	Silent	SNP	ENST00000255039.1	37	c.117C>A	CCDS1148.1																																																																																				0.682	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		3	14	3	14	---	---	---	---	A	156593630	C	A	156593630	2	1	9	1	0	0	0	0	0	0	0	1	6955	610	22	1		1	HAPLN2	1	156593630	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	337885	156593630	92656991	74	313										
C1orf66	51093	broad.mit.edu	37	chr1	156702827	156702827	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcacccaggttgtagacgtGggctcaggccaggtgagcca	15	11	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.chr1:156702827G>T	ENST00000368216.4	+	4	1110	c.480G>T	c.(478-480)gtG>gtT	p.V160V	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Silent_p.V160V	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	160						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						TTGTAGACGTGGGCTCAGGCC	0.517																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(478-480)gtG>gtT		ribosomal RNA adenine dimethylase domain containing 1							116	109	111					1																	156702827		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702827G>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.480G>T	1.37:g.156702827G>T			Somatic				RRNAD1_ENST00000368218.4_Silent_p.V160V|RRNAD1_ENST00000476229.1_Intron	p.V160V	NM_015997.3	NP_057081.3	WXS	Illumina GAIIx	Phase_I	Q96FB5	RRNAD_HUMAN			4	1110	+			160					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	c.480G>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019475	0.19355	.	.	ENSG00000143303	ENST00000522237	.	.	.	4.9	2.82	0.32997	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21314	-1.0249	4	.	.	.	-12.0931	1.16	0.01804	0.1495:0.2233:0.3995:0.2277	.	.	.	.	L	47	.	.	W	+	2	0	RRNAD1	154969451	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	0.398000	0.20899	0.488000	0.27723	0.561000	0.74099	TGG		0.517	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		5	165	5	165	---	---	---	---	T	156702827	G	T	156702827	2	4	9	1	0	0	0	0	0	0	0	1	2056	1335	47	1		1	C1orf66	1	156702827	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	109197	156702827	92547794	75	314										
FCRL5	83416	broad.mit.edu	37	chr1	157494290	157494290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgaagctccagcaggtccCccaccacagcctgggccctg	11	17	0	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.chr1:157494290C>A	ENST00000361835.3	-	10	2175	c.2018G>T	c.(2017-2019)gGg>gTg	p.G673V	FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	673	Ig-like C2-type 7.				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)				CAGCAGGTCCCCCACCACAGC	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.(2017-2019)gGg>gTg		Fc receptor-like 5							47	52	50					1																	157494290		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494290C>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.2018G>T	1.37:g.157494290C>A	ENSP00000354691:p.Gly673Val		Somatic				FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V	p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	WXS	Illumina GAIIx	Phase_I	Q96RD9	FCRL5_HUMAN			10	2175	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	673			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2018G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550630	0.45383	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34658	0.0905	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.971;0.989	D;D;D;D	0.83275	0.996;0.994;0.952;0.97	T	0.42481	-0.9449	9	0.87932	D	0	.	13.2997	0.60317	0.0:1.0:0.0:0.0	.	588;673;673;673	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	V	673;673;673;588	ENSP00000354691:G673V;ENSP00000349434:G673V;ENSP00000357173:G673V;ENSP00000357174:G588V	ENSP00000349434:G673V	G	-	2	0	FCRL5	155760914	0.463000	0.25799	0.986000	0.45419	0.109000	0.19521	2.070000	0.41491	2.595000	0.87683	0.555000	0.69702	GGG		0.552	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		4	78	4	78	---	---	---	---	A	157494290	C	A	157494290	3	1	9	1	0	0	0	0	1	0	0	0	5798	623	22	1	947	1	FCRL5	1	157494290	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	791463	157494290	91756331	76	315										
AIM2	9447	broad.mit.edu	37	chr1	159043120	159043120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatcactgcagacaccgccCcagcattttgaatcatcaag	6	14	4	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.chr1:159043120C>A	ENST00000368130.4	-	2	458	c.170G>T	c.(169-171)gGg>gTg	p.G57V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)					AGACACCGCCCCAGCATTTTG	0.393																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(169-171)gGg>gTg		absent in melanoma 2							88	89	89					1																	159043120		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043120C>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.170G>T	1.37:g.159043120C>A	ENSP00000357112:p.Gly57Val		Somatic				AIM2_ENST00000411768.1_5'UTR	p.G57V	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	O14862	AIM2_HUMAN			2	458	-	all_hematologic(112;0.0429)		57			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.170G>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514175	0.27123	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.52295	0.67;0.67	3.67	-1.01	0.10169	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.36580	0.0972	L	0.59436	1.845	0.09310	N	0.999992	D	0.63880	0.993	P	0.59703	0.862	T	0.11690	-1.0577	9	0.51188	T	0.08	-10.0985	4.1878	0.10407	0.0:0.3925:0.3749:0.2327	.	57	O14862	AIM2_HUMAN	V	57	ENSP00000357112:G57V;ENSP00000405197:G57V	ENSP00000357112:G57V	G	-	2	0	AIM2	157309744	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.772000	0.04694	0.008000	0.14787	0.561000	0.74099	GGG		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		6	154	6	154	---	---	---	---	A	159043120	C	A	159043120	3	1	9	1	0	0	0	0	1	0	0	0	432	623	22	1	881	1	AIM2	1	159043120	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1548830	159043120	90207501	77	316										
DARC	2532	broad.mit.edu	37	chr1	159176132	159176132	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcactgtgtggctacgccCctgctcctcgccctattctg	9	16	1	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.chr1:159176132C>A	ENST00000368122.2	+	2	1582	c.903C>A	c.(901-903)ccC>ccA	p.P301P	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Silent_p.P301P|DARC_ENST00000368121.2_Silent_p.P303P	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		301					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)					TGGCTACGCCCCTGCTCCTCG	0.602																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(901-903)ccC>ccA		Duffy blood group, atypical chemokine receptor							179	192	188					1																	159176132		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176132C>A																												ENST00000368122.2:c.903C>A	1.37:g.159176132C>A			Somatic				DARC_ENST00000368122.2_Silent_p.P301P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P	p.P301P			WXS	Illumina GAIIx	Phase_I	Q16570	DUFFY_HUMAN			3	1746	+	all_hematologic(112;0.0429)		301					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.903C>A	CCDS1183.1																																																																																				0.602	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			8	465	8	465	---	---	---	---	A	159176132	C	A	159176132	2	1	9	1	0	0	0	0	0	0	0	1	4240	610	22	1		1	DARC	1	159176132	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	133012	159176132	90074489	78	317										
FCRL6	343413	broad.mit.edu	37	chr1	159785241	159785241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtctgctgagttcaccgtgGggagaaaggtgagctgggat	18	6	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.chr1:159785241G>T	ENST00000368106.3	+	9	1172	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000321935.6_Missense_Mutation_p.G398W	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	391						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)					GTTCACCGTGGGGAGAAAGGT	0.542																																						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.(1192-1194)Ggg>Tgg		Fc receptor-like 6							121	104	110					1																	159785241		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159785241G>T	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.1171G>T	1.37:g.159785241G>T	ENSP00000357086:p.Gly391Trp		Somatic				FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000368106.3_Missense_Mutation_p.G391W	p.G398W	NM_001284217.1	NP_001271146.1	WXS	Illumina GAIIx	Phase_I	Q6DN72	FCRL6_HUMAN			10	1278	+	all_hematologic(112;0.0597)		391					A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.1192G>T	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622451	0.14193	.	.	ENSG00000181036	ENST00000321935;ENST00000392235;ENST00000368106	T;T;T	0.01379	4.96;5.19;5.27	3.15	-2.11	0.07187	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	P;P;P	0.44816	0.844;0.758;0.771	B;B;B	0.39419	0.299;0.29;0.299	T	0.48364	-0.9042	9	0.66056	D	0.02	.	4.3726	0.11255	0.4718:0.1941:0.3341:0.0	.	296;391;398	Q6DN72-4;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	W	398;296;391	ENSP00000320625:G398W;ENSP00000376068:G296W;ENSP00000357086:G391W	ENSP00000320625:G398W	G	+	1	0	FCRL6	158051865	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.421000	0.07053	-0.494000	0.06669	0.313000	0.20887	GGG		0.542	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		4	87	4	87	---	---	---	---	T	159785241	G	T	159785241	3	4	9	1	0	0	0	0	1	0	0	0	5799	1232	43	1	1205	1	FCRL6	1	159785241	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	609109	159785241	89465380	79	318										
TAGLN2	8407	broad.mit.edu	37	chr1	159889590	159889590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttactggggcctgcccCtcggggtacagtgcattaat	11	11	1	0	rs150286561		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.chr1:159889590C>A	ENST00000368097.4	-	3	526	c.216G>T	c.(214-216)gaG>gaT	p.E72D	TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	72	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)			GGGCCTGCCCCTCGGGGTACA	0.552																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(214-216)gaG>gaT		transgelin 2							176	164	168					1																	159889590		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889590C>A	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.216G>T	1.37:g.159889590C>A	ENSP00000357077:p.Glu72Asp		Somatic				TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D	p.E72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	WXS	Illumina GAIIx	Phase_I	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	526	-	all_hematologic(112;0.0597)		72			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.216G>T	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.983083	0.18889	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.30714	1.54;1.52;1.54;1.54	5.09	4.16	0.48862	Calponin homology domain (5);	0.121393	0.34725	U	0.003721	T	0.04182	0.0116	N	0.01624	-0.795	0.36387	D	0.862287	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	9	.	.	.	-36.5605	12.1224	0.53900	0.0:0.9102:0.0:0.0898	.	72	P37802	TAGL2_HUMAN	D	72;93;72;72	ENSP00000357077:E72D;ENSP00000357076:E93D;ENSP00000357075:E72D;ENSP00000412429:E72D	.	E	-	3	2	TAGLN2	158156214	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	-0.018000	0.12568	2.525000	0.85131	0.655000	0.94253	GAG		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		7	355	7	355	---	---	---	---	A	159889590	C	A	159889590	3	1	9	1	0	0	0	0	1	0	0	0	15536	680	24	1	395	1	TAGLN2	1	159889590	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	104349	159889590	89361031	80	319										
COPA	1314	broad.mit.edu	37	chr1	160260403	160260403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgcagcacaaatgtcaaagGggttgtgcatgtcataattg	11	6	2	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.chr1:160260403G>T	ENST00000241704.7	-	32	3723	c.3494C>A	c.(3493-3495)cCc>cAc	p.P1165H	COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1165					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)			AATGTCAAAGGGGTTGTGCAT	0.493																																						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.(3493-3495)cCc>cAc		coatomer protein complex, subunit alpha							196	191	193					1																	160260403		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.chr1:160260403G>T	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.3494C>A	1.37:g.160260403G>T	ENSP00000241704:p.Pro1165His		Somatic				COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	p.P1165H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		32	3723	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1165					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3494C>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442782	0.83993	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.66460	-0.21;-0.21	6.03	5.12	0.69794	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.85282	0.1062	10	0.87932	D	0	-15.3832	13.7889	0.63128	0.0734:0.0:0.9266:0.0	.	1165;1174	P53621;P53621-2	COPA_HUMAN;.	H	1174;1165	ENSP00000357048:P1174H;ENSP00000241704:P1165H	ENSP00000241704:P1165H	P	-	2	0	COPA	158527027	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	8.822000	0.92013	1.562000	0.49601	0.655000	0.94253	CCC		0.493	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		8	285	8	285	---	---	---	---	T	160260403	G	T	160260403	3	4	9	1	0	0	0	0	1	0	0	0	3727	1232	43	1	188	1	COPA	1	160260403	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	370813	160260403	88990218	81	320										
COPA	1314	broad.mit.edu	37	chr1	160267460	160267460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccacaatctggtggttccCctgcagcagggccacttctc	9	15	2	0	rs112109460		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.chr1:160267460C>A	ENST00000241704.7	-	20	2282	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	COPA_ENST00000368069.3_Missense_Mutation_p.G694W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	685					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)			TGGTGGTTCCCCTGCAGCAGG	0.468																																						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.(2053-2055)Ggg>Tgg		coatomer protein complex, subunit alpha							84	84	84					1																	160267460		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.chr1:160267460C>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.2053G>T	1.37:g.160267460C>A	ENSP00000241704:p.Gly685Trp		Somatic				COPA_ENST00000368069.3_Missense_Mutation_p.G694W	p.G685W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	2282	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		685					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2053G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894573	0.91962	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68479	-0.28;-0.33	5.68	5.68	0.88126	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88953	0.3388	10	0.87932	D	0	-18.8449	18.7245	0.91710	0.0:1.0:0.0:0.0	.	685;694	P53621;P53621-2	COPA_HUMAN;.	W	694;685	ENSP00000357048:G694W;ENSP00000241704:G685W	ENSP00000241704:G685W	G	-	1	0	COPA	158534084	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.578000	0.82498	2.835000	0.97688	0.650000	0.86243	GGG		0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	210	6	210	---	---	---	---	A	160267460	C	A	160267460	3	1	9	1	0	0	0	0	1	0	0	0	3727	623	22	1	1677	1	COPA	1	160267460	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7057	160267460	88983161	82	321										
CD48	962	broad.mit.edu	37	chr1	160651144	160651144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggaagggccttttgtccCcataccaggtgtagtttaca	11	9	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.chr1:160651144C>A	ENST00000368046.3	-	3	587	c.500G>T	c.(499-501)gGg>gTg	p.G167V	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	167	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)			CCTTTTGTCCCCATACCAGGT	0.443																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(499-501)gGg>gTg		CD48 molecule							172	158	163					1																	160651144		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651144C>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.500G>T	1.37:g.160651144C>A	ENSP00000357025:p.Gly167Val		Somatic				RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	p.G167V	NM_001778.3	NP_001769.2	WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	587	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		167			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.500G>T	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	7.407	0.633956	0.14322	.	.	ENSG00000117091	ENST00000368046	T	0.12569	2.67	3.5	-6.85	0.01681	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.065420	0.02183	N	0.060660	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	0.999995	P;P	0.50943	0.94;0.818	P;B	0.49140	0.601;0.374	T	0.33574	-0.9863	10	0.11485	T	0.65	-0.892	6.5393	0.22370	0.0:0.1681:0.3689:0.4629	.	167;167	Q6IAZ2;P09326	.;CD48_HUMAN	V	167	ENSP00000357025:G167V	ENSP00000357025:G167V	G	-	2	0	CD48	158917768	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.810000	0.01729	-1.795000	0.01255	-0.844000	0.03045	GGG		0.443	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		7	360	7	360	---	---	---	---	A	160651144	C	A	160651144	3	1	9	1	0	0	0	0	1	0	0	0	3020	623	22	1	239	1	CD48	1	160651144	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	383684	160651144	88599477	83	322										
APOA2	336	broad.mit.edu	37	chr1	161192276	161192276	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttccagccttcttgatcagGggtgtcagctgctcctttga	11	11	3	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.chr1:161192276G>T	ENST00000367990.3	-	4	279	c.222C>A	c.(220-222)ccC>ccA	p.P74P	APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000463812.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000470459.2_Intron|AL590714.1_ENST00000594609.1_Missense_Mutation_p.G71W|APOA2_ENST00000468465.1_Silent_p.P26P	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	74					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTTGATCAGGGGTGTCAGCT	0.507																																						ENST00000594609.1																			0											c.(211-213)Ggg>Tgg									218	200	206					1																	161192276		2203	4300	6503	SO:0001819	synonymous_variant	336							g.chr1:161192276G>T		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"Apolipoproteins"	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.222C>A	1.37:g.161192276G>T			Somatic				APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000463812.1_Silent_p.P26P	p.G71W			WXS	Illumina GAIIx	Phase_I					2	211	+								B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.211G>T	CCDS1226.1																																																																																				0.507	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		9	421	9	421	---	---	---	---	T	161192276	G	T	161192276	2	4	9	1	0	0	0	0	0	0	0	1	782	1219	43	1		1	APOA2	1	161192276	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	541132	161192276	88058345	84	323										
LMX1A	4009	broad.mit.edu	37	chr1	165175156	165175156	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtgagaccctgtcggaaGggatctgagctgtagacact	16	8	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.chr1:165175156G>T	ENST00000342310.3	-	8	1315	c.933C>A	c.(931-933)ccC>ccA	p.P311P	LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Silent_p.P311P	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTGTCGGAAGGGATCTGAGC	0.592																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(931-933)ccC>ccA		LIM homeobox transcription factor 1, alpha							115	115	115					1																	165175156		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165175156G>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"Homeoboxes / LIM class"	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.933C>A	1.37:g.165175156G>T			Somatic				LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR	p.P311P	NM_177398.3	NP_796372.1	WXS	Illumina GAIIx	Phase_I	Q8TE12	LMX1A_HUMAN			8	1315	-	all_hematologic(923;0.248)		311					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.933C>A	CCDS1247.1																																																																																				0.592	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		5	154	5	154	---	---	---	---	T	165175156	G	T	165175156	2	4	9	1	0	0	0	0	0	0	0	1	8861	987	35	1		1	LMX1A	1	165175156	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3982880	165175156	84075465	85	324										
FAM78B	149297	broad.mit.edu	37	chr1	166039992	166039992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctcaagtcaggcagttccCagcttgacctggcaaagcag	10	14	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.chr1:166039992C>A	ENST00000338353.3	-	3	861	c.272G>T	c.(271-273)tGg>tTg	p.W91L	FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	91										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)					AGGCAGTTCCCAGCTTGACCT	0.483																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(271-273)tGg>tTg		family with sequence similarity 78, member B							43	43	43					1																	166039992		2203	4299	6502	SO:0001583	missense	149297							g.chr1:166039992C>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.272G>T	1.37:g.166039992C>A	ENSP00000339681:p.Trp91Leu		Somatic				FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L	p.W91L			WXS	Illumina GAIIx	Phase_I	Q5VT40	FA78B_HUMAN			3	861	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		91					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.272G>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224210	0.79576	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.72894	2.215	0.53688	D	0.999979	D	0.67145	0.996	D	0.75484	0.986	T	0.76567	-0.2912	8	0.72032	D	0.01	-1.5131	17.3458	0.87309	0.0:1.0:0.0:0.0	.	91	Q5VT40	FA78B_HUMAN	L	91	.	ENSP00000339681:W91L	W	-	2	0	FAM78B	164306616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	2.758000	0.94735	0.655000	0.94253	TGG		0.483	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		4	82	4	82	---	---	---	---	A	166039992	C	A	166039992	3	1	9	1	0	0	0	0	1	0	0	0	5627	595	21	1	517	1	FAM78B	1	166039992	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	864836	166039992	83210629	86	325										
ILDR2	387597	broad.mit.edu	37	chr1	166927175	166927175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccgggtagaggacatgccCaaggattctcccatgcgatc	12	13	1	1	rs200050863		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.chr1:166927175C>A	ENST00000271417.3	-	2	265	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	70	Ig-like V-type.				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						AGGACATGCCCAAGGATTCTC	0.542																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(208-210)ttG>ttT		immunoglobulin-like domain containing receptor 2							142	126	131					1																	166927175		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166927175C>A	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.210G>T	1.37:g.166927175C>A	ENSP00000271417:p.Leu70Phe		Somatic				ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F	p.L70F	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			2	265	-			70			Ig-like V-type.			Missense_Mutation	SNP	ENST00000271417.3	37	c.210G>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344489	0.41498	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.76316	0.47;0.86;0.86;0.86;0.48;-1.01;0.0	5.57	5.57	0.84162	Immunoglobulin subtype (1);	0.065056	0.64402	D	0.000006	T	0.73900	0.3646	L	0.33485	1.01	0.44871	D	0.99788	D	0.76494	0.999	D	0.85130	0.997	T	0.69610	-0.5099	10	0.02654	T	1	.	19.5612	0.95373	0.0:1.0:0.0:0.0	.	70	Q71H61	ILDR2_HUMAN	F	70	ENSP00000271417:L70F;ENSP00000436120:L70F;ENSP00000431316:L70F;ENSP00000437008:L70F;ENSP00000436882:L70F;ENSP00000434273:L70F;ENSP00000432750:L70F	ENSP00000271417:L70F	L	-	3	2	ILDR2	165193799	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.926000	0.63433	2.593000	0.87608	0.563000	0.77884	TTG		0.542	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		6	232	6	232	---	---	---	---	A	166927175	C	A	166927175	3	1	9	1	0	0	0	0	1	0	0	0	7710	593	21	1	1745	1	ILDR2	1	166927175	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	887183	166927175	82323446	87	326										
SELE	6401	broad.mit.edu	37	chr1	169696959	169696959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatccatgtaattcaaatccCtcctcacagctgaaggcaca	6	13	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.chr1:169696959C>A	ENST00000333360.7	-	9	1528	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	463	Sushi 5. {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)	ATTCAAATCCCTCCTCACAGC	0.498																																						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.(1387-1389)gaG>gaT		selectin E							125	119	121					1																	169696959		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.chr1:169696959C>A	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.1389G>T	1.37:g.169696959C>A	ENSP00000331736:p.Glu463Asp		Somatic				SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367777.1_Intron	p.E463D	NM_000450.2	NP_000441.2	WXS	Illumina GAIIx	Phase_I	P16581	LYAM2_HUMAN			9	1528	-	all_hematologic(923;0.208)		463			Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1389G>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319859	0.41096	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.9	-5.12	0.02893	Complement control module (2);Sushi/SCR/CCP (3);	0.161229	0.29579	N	0.011751	T	0.33323	0.0859	L	0.52905	1.665	0.80722	D	1	B	0.22800	0.075	B	0.24848	0.056	T	0.05835	-1.0861	10	0.44086	T	0.13	-13.6072	3.9999	0.09576	0.1083:0.3988:0.1117:0.3812	.	463	P16581	LYAM2_HUMAN	D	400;338;463;338;400	ENSP00000356755:E400D;ENSP00000356754:E338D;ENSP00000331736:E463D;ENSP00000356749:E338D;ENSP00000356750:E400D	ENSP00000331736:E463D	E	-	3	2	SELE	167963583	0.000000	0.05858	0.276000	0.24689	0.855000	0.48748	-1.860000	0.01656	-1.034000	0.03295	-1.027000	0.02421	GAG		0.498	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		6	251	6	251	---	---	---	---	A	169696959	C	A	169696959	3	1	9	1	0	0	0	0	1	0	0	0	14013	680	24	1	463	1	SELE	1	169696959	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2769784	169696959	79553662	88	327										
ASTN1	460	broad.mit.edu	37	chr1	176984012	176984012	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcatagcagaggcattcccCttagaagcagggtaaggagg	13	8	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.chr1:176984012C>A	ENST00000367654.3	-	8	1674		c.e8-1		ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 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						AGGCATTCCCCTTAGAAGCAG	0.423																																						ENST00000367654.3																			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.e8-1		astrotactin 1							273	243	253					1																	176984012		2203	4300	6503	SO:0001630	splice_region_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176984012C>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.1463-1G>T	1.37:g.176984012C>A			Somatic				ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site		NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			8	1674	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Splice_Site	SNP	ENST00000367654.3	37			.	.	.	.	.	.	.	.	.	.	C	25.4	4.639150	0.87760	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6776	0.95943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN1	175250635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.155000	0.77445	2.746000	0.94184	0.655000	0.94253	.		0.423	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	Intron	7	516	7	516	---	---	---	---	A	176984012	C	A	176984012	5	1	9	1	0	0	0	0	0	0	1	0	1064	695	24	1	2514	1	ASTN1	1	176984012	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7287053	176984012	72266609	89	328										
XPR1	9213	broad.mit.edu	37	chr1	180794397	180794397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catatgtgtatccacttgccCtttatggatttatggttttc	7	8	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.chr1:180794397C>A	ENST00000367590.4	+	9	1249	c.1051C>A	c.(1051-1053)Ctt>Att	p.L351I	XPR1_ENST00000367589.3_Missense_Mutation_p.L351I|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	351					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						TCCACTTGCCCTTTATGGATT	0.438																																						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.(1051-1053)Ctt>Att		xenotropic and polytropic retrovirus receptor 1							186	181	182					1																	180794397		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794397C>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.1051C>A	1.37:g.180794397C>A	ENSP00000356562:p.Leu351Ile		Somatic				XPR1_ENST00000367589.3_Missense_Mutation_p.L351I	p.L351I	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			9	1249	+			351					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1051C>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191593	0.78902	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.49720	0.77;0.77	5.52	4.55	0.56014	EXS, C-terminal (1);	0.062220	0.64402	D	0.000004	T	0.62829	0.2460	M	0.85462	2.755	0.80722	D	1	D;P	0.55605	0.972;0.496	P;P	0.57846	0.828;0.461	T	0.67213	-0.5727	10	0.66056	D	0.02	-10.8302	6.8644	0.24084	0.1694:0.7158:0.0:0.1149	.	351;351	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	I	351	ENSP00000356562:L351I;ENSP00000356561:L351I	ENSP00000356561:L351I	L	+	1	0	XPR1	179061020	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.543000	0.53633	2.587000	0.87381	0.557000	0.71058	CTT		0.438	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		8	476	8	476	---	---	---	---	A	180794397	C	A	180794397	3	1	9	1	0	0	0	0	1	0	0	0	17448	681	24	1	1085	1	XPR1	1	180794397	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3810385	180794397	68456224	90	329										
LAMC2	3918	broad.mit.edu	37	chr1	183177169	183177169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttttaccggcacagagaaaGggaccgctgtttgccctgca	11	12	0	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.chr1:183177169G>T	ENST00000264144.4	+	2	298	c.233G>T	c.(232-234)aGg>aTg	p.R78M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	78	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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						CACAGAGAAAGGGACCGCTGT	0.507																																						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.(232-234)aGg>aTg		laminin, gamma 2							239	233	235					1																	183177169		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177169G>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.233G>T	1.37:g.183177169G>T	ENSP00000264144:p.Arg78Met		Somatic				LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	p.R78M	NM_005562.2	NP_005553.2	WXS	Illumina GAIIx	Phase_I	Q13753	LAMC2_HUMAN			2	298	+			78			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.233G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178188	0.57692	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.62105	0.05;0.05	4.81	3.89	0.44902	EGF-like, laminin (4);Growth factor, receptor (1);	0.192779	0.37530	N	0.002054	T	0.73321	0.3572	M	0.81802	2.56	0.24258	N	0.995299	D;D	0.67145	0.993;0.996	P;D	0.65443	0.898;0.935	T	0.63980	-0.6514	10	0.48119	T	0.1	.	5.5587	0.17131	0.2305:0.0:0.7695:0.0	.	78;78	Q13753;Q13753-2	LAMC2_HUMAN;.	M	78	ENSP00000432063:R78M;ENSP00000264144:R78M	ENSP00000264144:R78M	R	+	2	0	LAMC2	181443792	0.066000	0.20996	0.954000	0.39281	0.859000	0.49053	1.441000	0.35035	2.219000	0.72066	0.591000	0.81541	AGG		0.507	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		10	509	10	509	---	---	---	---	T	183177169	G	T	183177169	3	4	9	1	0	0	0	0	1	0	0	0	8615	1000	35	1	239	1	LAMC2	1	183177169	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2382772	183177169	66073452	91	330										
SMG7	9887	broad.mit.edu	37	chr1	183514075	183514075	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttgaagggtttccgccCccaacatatgttatcccccc	7	14	0	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.chr1:183514075C>A	ENST00000347615.2	+	16	2117	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000507469.1_Silent_p.P620P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000367537.3_Silent_p.P649P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	666	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						GGTTTCCGCCCCCAACATATG	0.438																																						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.(1945-1947)ccC>ccA		SMG7 nonsense mediated mRNA decay factor							88	94	92					1																	183514075		2203	4300	6503	SO:0001819	synonymous_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.chr1:183514075C>A	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.1998C>A	1.37:g.183514075C>A			Somatic				SMG7_ENST00000347615.2_Silent_p.P666P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000507469.1_Silent_p.P620P	p.P649P			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			17	2142	+			666			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.1947C>A	CCDS1355.1																																																																																				0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		6	262	6	262	---	---	---	---	A	183514075	C	A	183514075	2	1	9	1	0	0	0	0	0	0	0	1	14798	610	22	1		1	SMG7	1	183514075	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	336906	183514075	65736546	92	331										
APOBEC4	403314	broad.mit.edu	37	chr1	183617132	183617132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggaaaggcattgtttaagGggtagctctctaaagcctcc	11	9	1	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.chr1:183617132G>T	ENST00000308641.4	-	2	1056	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	262					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						ATTGTTTAAGGGGTAGCTCTC	0.448																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(784-786)cCc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							93	98	96					1																	183617132		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617132G>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.785C>A	1.37:g.183617132G>T	ENSP00000310622:p.Pro262His		Somatic				RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	p.P262H	NM_203454.2	NP_982279.1	WXS	Illumina GAIIx	Phase_I	Q8WW27	ABEC4_HUMAN			2	1056	-			262					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.785C>A	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	g	2.730	-0.264728	0.05754	.	.	ENSG00000173627	ENST00000308641	T	0.13538	2.58	5.15	-2.13	0.07144	.	1.047600	0.07590	N	0.921821	T	0.10680	0.0261	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43212	-0.9405	10	0.56958	D	0.05	-26.2345	0.505	0.00586	0.2097:0.2109:0.2571:0.3223	.	262	Q8WW27	ABEC4_HUMAN	H	262	ENSP00000310622:P262H	ENSP00000310622:P262H	P	-	2	0	APOBEC4	181883755	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.123000	0.10611	-0.349000	0.08274	-0.121000	0.15023	CCC		0.448	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		6	279	6	279	---	---	---	---	T	183617132	G	T	183617132	3	4	9	1	0	0	0	0	1	0	0	0	796	1232	43	1	322	1	APOBEC4	1	183617132	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	103057	183617132	65633489	93	332										
PRG4	10216	broad.mit.edu	37	chr1	186280621	186280621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tataaaagatgcagggtaccCcaaaccaattttcaaaggat	7	8	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.chr1:186280621C>A	ENST00000445192.2	+	10	3731	c.3686C>A	c.(3685-3687)cCc>cAc	p.P1229H	PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H|PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1229					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						GCAGGGTACCCCAAACCAATT	0.353																																						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.(3685-3687)cCc>cAc		proteoglycan 4							81	92	88					1																	186280621		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280621C>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.3686C>A	1.37:g.186280621C>A	ENSP00000399679:p.Pro1229His		Somatic				PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H	p.P1229H	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	Q92954	PRG4_HUMAN			10	3731	+			1229			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3686C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391301	0.62066	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.45361	D	0.000363	D	0.89406	0.6706	H	0.98370	4.215	0.54753	D	0.999982	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	0.93697	0.7012	10	0.87932	D	0	-7.7884	18.551	0.91065	0.0:1.0:0.0:0.0	.	1095;1136;1229;1188	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1186;758;1188;1136;1229	ENSP00000356456:P1186H;ENSP00000356454:P758H;ENSP00000356453:P1188H;ENSP00000356455:P1136H;ENSP00000399679:P1229H	ENSP00000356453:P1188H	P	+	2	0	PRG4	184547244	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.328000	0.79160	2.453000	0.82957	0.585000	0.79938	CCC		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	333	6	333	---	---	---	---	A	186280621	C	A	186280621	3	1	9	1	0	0	0	0	1	0	0	0	12481	623	22	1	3720	1	PRG4	1	186280621	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2663489	186280621	62970000	94	333										
TPR	7175	broad.mit.edu	37	chr1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggacaccagcaacctgcgGcgaactaaatggacaaaaac	10	11	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.chr1:186289546G>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																																	ENST00000367478.4				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		Somatic					p.P2156S	NM_003292.2	NP_003283.2	WXS	Illumina GAIIx	Phase_I	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)						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	14	63	---	---	---	---	A	186289546	G	A	186289546	3	1	9	1	0	0	0	0	1	0	0	0	16413	1203	42	2	649	2	TPR	1	186289546	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8925	186289546	62961075	95	334										
CRB1	23418	broad.mit.edu	37	chr1	197404276	197404276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaatataaagggcctgcaaGggtgtctaagtacaatagaa	10	6	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.chr1:197404276G>T	ENST00000367400.3	+	9	3418	c.3283G>T	c.(3283-3285)Ggg>Tgg	p.G1095W	CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.G476W	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1095	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						GGGCCTGCAAGGGTGTCTAAG	0.368																																						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						c.(1426-1428)Ggg>Tgg		crumbs homolog 1 (Drosophila)							59	63	62					1																	197404276		2203	4299	6502	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.chr1:197404276G>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.3283G>T	1.37:g.197404276G>T	ENSP00000356370:p.Gly1095Trp		Somatic				CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367400.3_Missense_Mutation_p.G1095W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W	p.G476W			WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			5	2284	+			1095			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1426G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757762	0.49468	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.98488	0.9496	M	0.88181	2.935	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	D	0.99160	1.0861	9	0.87932	D	0	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	1071;983;744;1095	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	W	1071;1095;983;576;476;744	ENSP00000438786:G1071W;ENSP00000356370:G1095W;ENSP00000356369:G983W;ENSP00000444556:G576W;ENSP00000356367:G476W	ENSP00000356367:G476W	G	+	1	0	CRB1	195670899	1.000000	0.71417	0.473000	0.27253	0.039000	0.13416	9.368000	0.97152	2.681000	0.91329	0.650000	0.86243	GGG		0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	213	6	213	---	---	---	---	T	197404276	G	T	197404276	3	4	9	1	0	0	0	0	1	0	0	0	3848	1000	35	1	3317	1	CRB1	1	197404276	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11114730	197404276	51846345	96	335										
KIF14	9928	broad.mit.edu	37	chr1	200587192	200587192	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctgactcagggaagcaatGggtggtctattacttgagta	13	6	3	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.chr1:200587192G>T	ENST00000367350.4	-	2	1098	c.660C>A	c.(658-660)ccC>ccA	p.P220P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	220	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						GGGAAGCAATGGGTGGTCTAT	0.398																																						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.(658-660)ccC>ccA		kinesin family member 14							144	148	147					1																	200587192		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587192G>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.660C>A	1.37:g.200587192G>T			Somatic					p.P220P	NM_014875.2	NP_055690.1	WXS	Illumina GAIIx	Phase_I	Q15058	KIF14_HUMAN			2	1098	-			220			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.660C>A	CCDS30963.1																																																																																				0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		9	505	9	505	---	---	---	---	T	200587192	G	T	200587192	2	4	9	1	0	0	0	0	0	0	0	1	8276	1335	47	1		1	KIF14	1	200587192	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3182916	200587192	48663429	97	336										
C1orf106	55765	broad.mit.edu	37	chr1	200880632	200880632	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgaggtcgcagcgcctttccCcgccgccgccccactcacta	9	21	1	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.chr1:200880632C>A	ENST00000367342.4	+	9	1466	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	C1orf106_ENST00000413687.2_Silent_p.P337P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCGCCTTTCCCCGCCGCCGCC	0.662																																						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.(1264-1266)ccC>ccA		chromosome 1 open reading frame 106							93	119	110					1																	200880632		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880632C>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.1266C>A	1.37:g.200880632C>A			Somatic				C1orf106_ENST00000413687.2_Silent_p.P337P	p.P422P	NM_018265.3	NP_060735.3	WXS	Illumina GAIIx	Phase_I	Q3KP66	CA106_HUMAN			9	1466	+			422					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1266C>A																																																																																					0.662	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		6	239	6	239	---	---	---	---	A	200880632	C	A	200880632	2	1	9	1	0	0	0	0	0	0	0	1	1980	610	22	1		1	C1orf106	1	200880632	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	293440	200880632	48369989	98	337										
GPR37L1	9283	broad.mit.edu	37	chr1	202096908	202096908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgactttcagcctctgtgccCtgggcattgaccgcttccac	9	16	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.chr1:202096908C>A	ENST00000367282.5	+	2	776	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	224					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						CCTCTGTGCCCTGGGCATTGA	0.587																																						ENST00000367282.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(670-672)Ctg>Atg		G protein-coupled receptor 37 like 1							86	83	84					1																	202096908		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202096908C>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.670C>A	1.37:g.202096908C>A	ENSP00000356251:p.Leu224Met		Somatic					p.L224M	NM_004767.3	NP_004758.3	WXS	Illumina GAIIx	Phase_I	O60883	ETBR2_HUMAN			2	776	+								B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.670C>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558312	0.65538	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.72615	-0.67	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.078909	0.53938	D	0.000059	T	0.81148	0.4762	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81579	-0.0868	10	0.66056	D	0.02	-20.9524	8.3971	0.32564	0.0:0.7639:0.0:0.2361	.	224	O60883	ETBR2_HUMAN	M	91;224	ENSP00000356251:L224M	ENSP00000356251:L224M	L	+	1	2	GPR37L1	200363531	0.205000	0.23458	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	1.291000	0.44653	0.555000	0.69702	CTG		0.587	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		4	102	4	102	---	---	---	---	A	202096908	C	A	202096908	3	1	9	1	0	0	0	0	1	0	0	0	6692	680	24	1	676	1	GPR37L1	1	202096908	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1216276	202096908	47153713	99	338										
PPP1R15B	84919	broad.mit.edu	37	chr1	204380335	204380335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggagcggcgcaaggagctGggagagcagtttcgtccagt	19	8	0	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.chr1:204380335G>T	ENST00000367188.4	-	1	584	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	69					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCAAGGAGCTGGGAGAGCAGT	0.572																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(205-207)Cag>Aag		protein phosphatase 1, regulatory subunit 15B							67	73	71					1																	204380335		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204380335G>T	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.205C>A	1.37:g.204380335G>T	ENSP00000356156:p.Gln69Lys		Somatic				RP11-739N20.2_ENST00000443515.1_RNA	p.Q69K	NM_032833.3	NP_116222.3	WXS	Illumina GAIIx	Phase_I	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	584	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		69					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.205C>A	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994318	0.93167	.	.	ENSG00000158615	ENST00000367188	T	0.22134	1.97	5.22	5.22	0.72569	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.571651	0.14605	N	0.309387	T	0.25754	0.0627	L	0.59436	1.845	0.32790	N	0.501237	P	0.37914	0.611	B	0.36959	0.237	T	0.37663	-0.9696	10	0.66056	D	0.02	-3.0314	14.6287	0.68640	0.0:0.0:1.0:0.0	.	69	Q5SWA1	PR15B_HUMAN	K	69	ENSP00000356156:Q69K	ENSP00000356156:Q69K	Q	-	1	0	PPP1R15B	202646958	1.000000	0.71417	0.945000	0.38365	0.938000	0.57974	2.983000	0.49345	2.586000	0.87340	0.655000	0.94253	CAG		0.572	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		5	192	5	192	---	---	---	---	T	204380335	G	T	204380335	3	4	9	1	0	0	0	0	1	0	0	0	12364	1357	47	1	1944	1	PPP1R15B	1	204380335	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2283427	204380335	44870286	100	339										
CD46	4179	broad.mit.edu	37	chr1	207959026	207959026	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaaaggaggaagaagaaaGggtaaattaaagcatgtttc	11	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.chr1:207959026G>T	ENST00000358170.2	+	12	1282	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	CD46_ENST00000441839.2_Intron|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W|CD46_ENST00000322918.5_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	376					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						GAAGAAGAAAGGGTAAATTAA	0.338																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(1126-1128)Ggc>Tgc		CD46 molecule, complement regulatory protein							203	209	207					1																	207959026		2203	4300	6503	SO:0001630	splice_region_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.chr1:207959026G>T	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.1127+1G>T	1.37:g.207959026G>T			Somatic				CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W	p.G376C	NM_002389.4	NP_002380.3	WXS	Illumina GAIIx	Phase_I	P15529	MCP_HUMAN			12	1282	+			376					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Splice_Site	SNP	ENST00000358170.2	37	c.1126G>T	CCDS1485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.979058|3.979058	0.74360|0.74360	.|.	.|.	ENSG00000117335|ENSG00000117335	ENST00000358170;ENST00000367042;ENST00000367041|ENST00000354848;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T|T;T;T;T;T;T;T	0.51325|0.36878	1.04;0.71;1.31|1.31;1.28;1.31;1.28;1.25;1.35;1.23	4.23|4.23	-3.52|-3.52	0.04682|0.04682	.|.	2.671690|2.671690	0.01787|0.01787	N|N	0.032095|0.032095	T|T	0.39200|0.39200	0.1069|0.1069	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999985|0.999985	D;D;D;D;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;1.0;1.0;1.0;1.0	D;D;D;D;D;D|D;D;D;D;D;D	0.91635|0.97110	0.98;0.98;0.999;0.999;0.98;0.997|0.998;0.998;0.998;1.0;0.998;0.998	T|T	0.36817|0.36817	-0.9732|-0.9732	10|10	0.87932|0.72032	D|D	0|0.01	.|.	1.6137|1.6137	0.02698|0.02698	0.4432:0.1403:0.2731:0.1433|0.4432:0.1403:0.2731:0.1433	.|.	347;346;362;361;332;376|346;362;361;376;332;347	P15529-14;P15529-12;P15529-13;P15529-11;P15529-15;P15529|P15529-4;P15529-5;P15529-3;P15529-2;P15529-7;P15529-6	.;.;.;.;.;MCP_HUMAN|.;.;.;.;.;.	C|W	376;361;346|361;346;376;313;362;332;347	ENSP00000350893:G376C;ENSP00000356009:G361C;ENSP00000356008:G346C|ENSP00000346912:G361W;ENSP00000350346:G346W;ENSP00000313875:G376W;ENSP00000356014:G313W;ENSP00000354358:G362W;ENSP00000353342:G332W;ENSP00000418471:G347W	ENSP00000350893:G376C|ENSP00000313875:G376W	G|G	+|+	1|1	0|0	CD46|CD46	206025649|206025649	0.224000|0.224000	0.23674|0.23674	0.062000|0.062000	0.19696|0.19696	0.972000|0.972000	0.66771|0.66771	-0.452000|-0.452000	0.06787|0.06787	-0.757000|-0.757000	0.04697|0.04697	0.591000|0.591000	0.81541|0.81541	GGC|GGG		0.338	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	Missense_Mutation	6	360	6	360	---	---	---	---	T	207959026	G	T	207959026	5	4	9	1	0	0	0	0	0	0	1	0	3018	1014	35	1	1172	1	CD46	1	207959026	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3578691	207959026	41291595	101	340										
GPATCH2	55105	broad.mit.edu	37	chr1	217604600	217604600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgaattggctcagagatccCcttgccatctcgtccaaggc	9	13	2	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.chr1:217604600C>A	ENST00000366935.3	-	10	1584	c.1474G>T	c.(1474-1476)Ggg>Tgg	p.G492W		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	492	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			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)		TCAGAGATCCCCTTGCCATCT	0.493																																						ENST00000366935.3																			0				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.(1474-1476)Ggg>Tgg		G patch domain containing 2							136	140	139					1																	217604600		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217604600C>A	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.1474G>T	1.37:g.217604600C>A	ENSP00000355902:p.Gly492Trp		Somatic					p.G492W	NM_018040.2	NP_060510.1	WXS	Illumina GAIIx	Phase_I	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	10	1584	-			492			G-patch.		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1474G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938258	0.92526	.	.	ENSG00000092978	ENST00000366935	T	0.65732	-0.17	5.83	5.83	0.93111	D111/G-patch (3);	0.051236	0.85682	D	0.000000	D	0.89431	0.6713	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93546	0.6882	10	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	492	Q9NW75	GPTC2_HUMAN	W	492	ENSP00000355902:G492W	ENSP00000355902:G492W	G	-	1	0	GPATCH2	215671223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	GGG		0.493	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		7	349	7	349	---	---	---	---	A	217604600	C	A	217604600	3	1	9	1	0	0	0	0	1	0	0	0	6591	623	22	1	116	1	GPATCH2	1	217604600	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9645574	217604600	31646021	102	341										
BPNT1	10380	broad.mit.edu	37	chr1	220247316	220247316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgacgcttacctcttccCctataattgtgagtttgggg	10	9	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.chr1:220247316C>A	ENST00000469520.2	-	4	667	c.218G>T	c.(217-219)gGg>gTg	p.G73V	BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000482136.1_5'UTR			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	73					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)		TACCTCTTCCCCTATAATTGT	0.388																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(217-219)gGg>gTg		3'(2'), 5'-bisphosphate nucleotidase 1							170	160	163					1																	220247316		1843	4098	5941	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220247316C>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.218G>T	1.37:g.220247316C>A	ENSP00000446828:p.Gly73Val		Somatic				BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V	p.G73V			WXS	Illumina GAIIx	Phase_I	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	4	667	-			73					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.218G>T	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755728	0.89843	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959;ENST00000498237	D;D;D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.96838	0.9616	10	0.87932	D	0	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	73;73;73	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	V	73;73;73;73;18;73;73;73;18;73	ENSP00000318852:G73V;ENSP00000446828:G73V;ENSP00000346862:G73V;ENSP00000444398:G18V;ENSP00000410348:G73V;ENSP00000446953:G73V;ENSP00000446850:G73V;ENSP00000448740:G18V;ENSP00000449883:G73V	ENSP00000307087:G73V	G	-	2	0	BPNT1	218313939	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.734000	0.74801	2.579000	0.87056	0.644000	0.83932	GGG		0.388	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		9	384	9	384	---	---	---	---	A	220247316	C	A	220247316	3	1	9	1	0	0	0	0	1	0	0	0	1494	623	22	1	736	1	BPNT1	1	220247316	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2642716	220247316	29003305	103	342										
LBR	3930	broad.mit.edu	37	chr1	225607004	225607004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtcctttgcccggatggGggtcacttcaaaggttctca	11	11	3	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.chr1:225607004G>T	ENST00000338179.2	-	5	726	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	LBR_ENST00000487054.1_5'UTR|LBR_ENST00000272163.4_Missense_Mutation_p.P201T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	201					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)		GCCCGGATGGGGGTCACTTCA	0.498																																						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.(601-603)Ccc>Acc		lamin B receptor							92	98	96					1																	225607004		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.chr1:225607004G>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.601C>A	1.37:g.225607004G>T	ENSP00000339883:p.Pro201Thr		Somatic				LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR	p.P201T	NM_194442.2	NP_919424.1	WXS	Illumina GAIIx	Phase_I	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	5	726	-	Breast(184;0.165)		201			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.601C>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	1.520	-0.547173	0.04024	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.97791	-4.54;-4.54;0.62	5.63	-4.7	0.03288	.	1.230090	0.05389	N	0.538688	D	0.90920	0.7146	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	D	0.84965	0.0879	10	0.10902	T	0.67	0.5813	1.1676	0.01819	0.2196:0.1775:0.3822:0.2206	.	201;201	C9JXK0;Q14739	.;LBR_HUMAN	T	201	ENSP00000272163:P201T;ENSP00000339883:P201T;ENSP00000388059:P201T	ENSP00000272163:P201T	P	-	1	0	LBR	223673627	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.822000	0.04448	-0.280000	0.09154	-0.258000	0.10820	CCC		0.498	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		6	169	6	169	---	---	---	---	T	225607004	G	T	225607004	3	4	9	1	0	0	0	0	1	0	0	0	8652	1232	43	1	1286	1	LBR	1	225607004	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5359688	225607004	23643617	104	343										
TRIM11	81559	broad.mit.edu	37	chr1	228582614	228582614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatccccacgcgcctgggtGggtcccggagtggagccaag	16	13	0	1	rs560022140		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.chr1:228582614G>T	ENST00000284551.6	-	6	1477	c.1199C>A	c.(1198-1200)cCa>cAa	p.P400Q	TRIM11_ENST00000493030.2_Missense_Mutation_p.P275Q|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	400	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|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 viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGCCTGGGTGGGTCCCGGAG	0.597																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(823-825)cCa>cAa		tripartite motif containing 11							72	79	77					1																	228582614		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582614G>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16281	protein-coding gene	gene with protein product		607868	"tripartite motif-containing 11"			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1199C>A	1.37:g.228582614G>T	ENSP00000284551:p.Pro400Gln		Somatic				TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.P400Q	p.P275Q			WXS	Illumina GAIIx	Phase_I	Q96F44	TRI11_HUMAN			5	4533	-		Prostate(94;0.0724)	400			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.824C>A	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582602	0.28180	.	.	ENSG00000154370	ENST00000284551	T	0.68181	-0.31	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.146501	0.32175	N	0.006475	T	0.76212	0.3956	M	0.69823	2.125	0.24055	N	0.996035	P;P	0.49307	0.835;0.922	P;P	0.58520	0.778;0.84	T	0.68697	-0.5340	10	0.52906	T	0.07	.	11.5454	0.50690	0.0:0.1812:0.8188:0.0	.	399;400	Q96F44-3;Q96F44	.;TRI11_HUMAN	Q	400	ENSP00000284551:P400Q	ENSP00000284551:P400Q	P	-	2	0	TRIM11	226649237	0.042000	0.20092	0.893000	0.35052	0.019000	0.09904	1.666000	0.37460	2.370000	0.80446	0.609000	0.83330	CCA		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		4	83	4	83	---	---	---	---	T	228582614	G	T	228582614	3	4	9	1	0	0	0	0	1	0	0	0	16484	1348	47	1	211	1	TRIM11	1	228582614	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2975610	228582614	20668007	105	344										
CAPN9	10753	broad.mit.edu	37	chr1	230933908	230933908	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccccttctctcctatcagGggtgttccaggctctcagta	8	15	3	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.chr1:230933908G>T	ENST00000271971.2	+	19	2101	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Splice_Site_p.R637L	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	663	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R663L(1)|p.R637L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCCTATCAGGGGTGTTCCAG	0.502											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354537.1																			2	Substitution - Missense(2)	p.R663L(1)|p.R637L(1)	lung(2)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1909-1911)cGg>cTg		calpain 9							170	178	176					1																	230933908		2203	4300	6503	SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230933908G>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1988-1G>T	1.37:g.230933908G>T			Somatic	OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2346	CAPN9_ENST00000271971.2_Splice_Site_p.R663L|CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron	p.R637L	NM_016452.1	NP_057536.1	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			18	1992	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	663			Domain IV.		B1APS1|B1AQI0|Q9NS74	Splice_Site	SNP	ENST00000271971.2	37	c.1910G>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228852	0.79576	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94758	-3.51;-3.51;-3.51	5.13	5.13	0.70059	EF-hand-like domain (1);	0.070065	0.64402	D	0.000014	D	0.97467	0.9171	M	0.88105	2.93	0.80722	D	1	D;D;D	0.67145	0.992;0.996;0.992	D;D;D	0.72982	0.93;0.979;0.953	D	0.97842	1.0269	9	.	.	.	.	15.8456	0.78887	0.0:0.0:1.0:0.0	.	600;637;663	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	L	663;637;600	ENSP00000271971:R663L;ENSP00000346538:R637L;ENSP00000355626:R600L	.	R	+	2	0	CAPN9	229000531	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	5.427000	0.66483	2.558000	0.86282	0.655000	0.94253	CGG		0.502	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Missense_Mutation	8	411	8	411	---	---	---	---	T	230933908	G	T	230933908	5	4	9	1	0	0	0	0	0	0	1	0	2632	1246	43	1	2062	1	CAPN9	1	230933908	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2351294	230933908	18316713	106	345										
KIAA1804	84451	broad.mit.edu	37	chr1	233489601	233489601	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accggagaagtcccctatcgGggcattgatggcctcgccgt	13	13	0	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.chr1:233489601G>T	ENST00000366624.3	+	3	1296	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	MLK4_ENST00000366623.3_Silent_p.R345R	NM_032435.2	NP_115811.2																					TCCCCTATCGGGGCATTGATG	0.512																																						ENST00000366624.3																			0											c.(1033-1035)cgG>cgT									108	101	104					1																	233489601		2203	4300	6503	SO:0001819	synonymous_variant	84451							g.chr1:233489601G>T																												ENST00000366624.3:c.1035G>T	1.37:g.233489601G>T			Somatic				MLK4_ENST00000366623.3_Silent_p.R345R	p.R345R	NM_032435.2	NP_115811.2	WXS	Illumina GAIIx	Phase_I					3	1296	+									Silent	SNP	ENST00000366624.3	37	c.1035G>T	CCDS1598.1																																																																																				0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	164	7	164	---	---	---	---	T	233489601	G	T	233489601	2	4	9	1	0	0	0	0	0	0	0	1	8259	1219	43	1		1	KIAA1804	1	233489601	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2555693	233489601	15761020	107	346										
LYST	1130	broad.mit.edu	37	chr1	235950607	235950607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catttgcttgggaggaaaatAttctcctgtgattcaacctg	9	8	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.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR			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			Somatic				LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N	p.N1585N			WXS	Illumina GAIIx	Phase_I	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	7	457	---	---	---	---	G	235950607	A	G	235950607	2	3	9	1	0	0	0	0	0	0	0	1	9128	446	16	2		2	LYST	1	235950607	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08	2461006	235950607	13300014	108	347										
HEATR1	55127	broad.mit.edu	37	chr1	236746435	236746435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcttctacataatgtgccCacagctccactgggatccct	7	15	2	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.chr1:236746435C>A	ENST00000366582.3	-	18	2417	c.2303G>T	c.(2302-2304)tGg>tTg	p.W768L	HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	768					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)			ATAATGTGCCCACAGCTCCAC	0.413																																						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.(2302-2304)tGg>tTg		HEAT repeat containing 1							174	164	168					1																	236746435		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746435C>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.2303G>T	1.37:g.236746435C>A	ENSP00000355541:p.Trp768Leu		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	p.W768L	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2417	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	768					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2303G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435855	0.62955	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.03982	3.74;3.77	5.56	5.56	0.83823	Armadillo-type fold (1);	0.286884	0.35970	N	0.002870	T	0.04227	0.0117	L	0.38838	1.175	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.18681	-1.0329	10	0.02654	T	1	.	12.5998	0.56491	0.278:0.722:0.0:0.0	.	768;768	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	768	ENSP00000355541:W768L;ENSP00000355540:W768L	ENSP00000355540:W768L	W	-	2	0	HEATR1	234813058	1.000000	0.71417	0.997000	0.53966	0.530000	0.34684	3.957000	0.56730	2.607000	0.88179	0.655000	0.94253	TGG		0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		7	441	7	441	---	---	---	---	A	236746435	C	A	236746435	3	1	9	1	0	0	0	0	1	0	0	0	7027	595	21	1	4243	1	HEATR1	1	236746435	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	795828	236746435	12504186	109	348										
MTR	4548	broad.mit.edu	37	chr1	237060398	237060398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtccaaatattttgctgtgGggaagatttccaaggatcag	11	6	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.chr1:237060398G>T	ENST00000366577.5	+	32	4085	c.3691G>T	c.(3691-3693)Ggg>Tgg	p.G1231W	MTR_ENST00000535889.1_Missense_Mutation_p.G1180W|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1231	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|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)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTGCTGTGGGGAAGATTTC	0.408																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3691-3693)Ggg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						144	146	146					1																	237060398		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237060398G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3691G>T	1.37:g.237060398G>T	ENSP00000355536:p.Gly1231Trp		Somatic				MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.G1180W	p.G1231W	NM_000254.2	NP_000245.2	WXS	Illumina GAIIx	Phase_I	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	32	4085	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1231			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3691G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767668	0.90020	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.79653	-1.29;-1.29;-1.29	5.87	5.87	0.94306	Vitamin B12-dependent methionine synthase, activation domain (3);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.94306	3.52	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	0.94204	0.7452	10	0.87932	D	0	-20.6185	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1231;1180;1231	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	1085;1231;1180;785	ENSP00000355536:G1231W;ENSP00000441845:G1180W;ENSP00000355535:G785W	ENSP00000355535:G785W	G	+	1	0	MTR	235127021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.145000	0.94634	2.780000	0.95670	0.655000	0.94253	GGG		0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	318	6	318	---	---	---	---	T	237060398	G	T	237060398	3	4	9	1	0	0	0	0	1	0	0	0	9958	1232	43	1	3817	1	MTR	1	237060398	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	313963	237060398	12190223	110	349										
RYR2	6262	broad.mit.edu	37	chr1	237802315	237802315	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttccccattctactttagGggagagtgtggaggaaaatg	12	7	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.chr1:237802315G>T	ENST00000366574.2	+	46	7246	c.6929G>T	c.(6928-6930)gGg>gTg	p.G2310V	RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2310	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)			TCTACTTTAGGGGAGAGTGTG	0.383																																						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.(6928-6930)gGg>gTg		ryanodine receptor 2 (cardiac)							116	112	113					1																	237802315		1869	4113	5982	SO:0001630	splice_region_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.chr1:237802315G>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.6929-1G>T	1.37:g.237802315G>T			Somatic				RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V	p.G2310V	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7246	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2310			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.6929G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175819	0.78564	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.21;-4.21	5.05	5.05	0.67936	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000004	D	0.97914	0.9314	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97957	1.0335	9	.	.	.	.	18.7649	0.91868	0.0:0.0:1.0:0.0	.	2310	Q92736	RYR2_HUMAN	V	2310;2308;2294	ENSP00000355533:G2310V;ENSP00000353174:G2308V;ENSP00000443798:G2294V	.	G	+	2	0	RYR2	235868938	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.675000	0.98638	2.498000	0.84270	0.561000	0.74099	GGG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	4	51	4	51	---	---	---	---	T	237802315	G	T	237802315	5	4	9	1	0	0	0	0	0	0	1	0	13769	1246	43	1	7111	1	RYR2	1	237802315	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	741917	237802315	11448306	111	350										
OR2G2	81470	broad.mit.edu	37	chr1	247751791	247751791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtatttactaactattttgGggaataccaccatcattctg	6	8	2	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.chr1:247751791G>T	ENST00000320065.1	+	1	130	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, 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)			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)			AACTATTTTGGGGAATACCAC	0.408																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(130-132)Ggg>Tgg		olfactory receptor, family 2, subfamily G, member 2							233	221	225					1																	247751791		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751791G>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.130G>T	1.37:g.247751791G>T	ENSP00000326349:p.Gly44Trp		Somatic				RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.G44W	NM_001001915.1	NP_001001915.1	WXS	Illumina GAIIx	Phase_I	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	130	+	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)		44					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.130G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074904	0.55646	.	.	ENSG00000177489	ENST00000320065	T	0.04502	3.61	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004451	T	0.29588	0.0738	H	0.94658	3.565	0.31286	N	0.690012	D	0.89917	1.0	D	0.97110	1.0	T	0.51568	-0.8689	10	0.87932	D	0	.	13.4253	0.61022	0.0:0.0:1.0:0.0	.	44	Q8NGZ5	OR2G2_HUMAN	W	44	ENSP00000326349:G44W	ENSP00000326349:G44W	G	+	1	0	OR2G2	245818414	0.240000	0.23847	0.651000	0.29564	0.869000	0.49853	3.552000	0.53705	1.968000	0.57251	0.591000	0.81541	GGG		0.408	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			8	444	8	444	---	---	---	---	T	247751791	G	T	247751791	3	4	9	1	0	0	0	0	1	0	0	0	10998	1232	43	1	132	1	OR2G2	1	247751791	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9949476	247751791	1498830	112	351										
OR2M5	127059	broad.mit.edu	37	chr1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctcctactgtgggtctcGggaaatagcccacttcttct	8	13	4	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.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172						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)			TGTGGGTCTCGGGAAATAGCC	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.(514-516)cGg>cTg		olfactory receptor, family 2, subfamily M, member 5							281	265	271					1																	248308964		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308964G>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.515G>T	1.37:g.248308964G>T	ENSP00000355432:p.Arg172Leu		Somatic					p.R172L	NM_001004690.1	NP_001004690.1	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	515	+	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)		172						Missense_Mutation	SNP	ENST00000366476.1	37	c.515G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.474030	0.43942	.	.	ENSG00000162727	ENST00000366476	T	0.00115	8.71	3.28	-0.741	0.11112	GPCR, rhodopsin-like superfamily (1);	0.298455	0.18176	U	0.149296	T	0.00144	0.0004	L	0.58925	1.835	0.09310	N	1	B	0.17268	0.021	B	0.24394	0.053	T	0.44862	-0.9300	10	0.59425	D	0.04	.	2.3182	0.04204	0.3221:0.0:0.272:0.406	.	172	A3KFT3	OR2M5_HUMAN	L	172	ENSP00000355432:R172L	ENSP00000355432:R172L	R	+	2	0	OR2M5	246375587	0.000000	0.05858	0.004000	0.12327	0.873000	0.50193	1.125000	0.31332	0.031000	0.15407	0.492000	0.49549	CGG		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		9	676	9	676	---	---	---	---	T	248308964	G	T	248308964	3	4	9	1	0	0	0	0	1	0	0	0	11013	1116	39	1	517	1	OR2M5	1	248308964	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	557173	248308964	941657	113	352										
OR2T4	127074	broad.mit.edu	37	chr1	248525150	248525150	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacgcccacctccacaccCccatgtactttttcatcagt	5	17	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.chr1:248525150C>A	ENST00000366475.1	+	1	268	c.268C>A	c.(268-270)Ccc>Acc	p.P90T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	90						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)			CCTCCACACCCCCATGTACTT	0.478																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(268-270)Ccc>Acc		olfactory receptor, family 2, subfamily T, member 4							486	325	379					1																	248525150		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525150C>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.268C>A	1.37:g.248525150C>A	ENSP00000355431:p.Pro90Thr		Somatic					p.P90T	NM_001004696.1	NP_001004696.1	WXS	Illumina GAIIx	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	268	+	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)		90					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.268C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238084	0.58886	.	.	ENSG00000196944	ENST00000366475	T	0.02032	4.49	3.48	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.303615	0.23889	N	0.043565	T	0.14614	0.0353	H	0.94964	3.605	0.41156	D	0.986069	D	0.67145	0.996	D	0.65010	0.931	T	0.01961	-1.1239	10	0.87932	D	0	.	9.7162	0.40276	0.0:0.8928:0.0:0.1072	.	90	Q8NH00	OR2T4_HUMAN	T	90	ENSP00000355431:P90T	ENSP00000355431:P90T	P	+	1	0	OR2T4	246591773	0.999000	0.42202	0.886000	0.34754	0.697000	0.40408	4.710000	0.61873	1.469000	0.48083	0.485000	0.47835	CCC		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		8	501	8	501	---	---	---	---	A	248525150	C	A	248525150	3	1	9	1	0	0	0	0	1	0	0	0	11027	623	22	1	270	1	OR2T4	1	248525150	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	216186	248525150	725471	114	353										
CPSF3	51692	broad.mit.edu	37	chr2	9595849	9595849	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccattccatatactggtccCtttaatttgctctgttacca	5	12	1	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.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			Somatic				CPSF3_ENST00000238112.3_Silent_p.P522P	p.P485P			WXS	Illumina GAIIx	Phase_I	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	14	121	---	---	---	---	G	9595849	C	G	9595849	2	3	9	1	0	0	0	0	0	0	0	1	3826	668	24	4		4	CPSF3	2	9595849	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		9595849	233603524	115	354										
WDR35	57539	broad.mit.edu	37	chr2	20113344	20113344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccactggactatggcataagGggcagaagctgtagtggctt	14	8	0	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.chr2:20113344G>T	ENST00000345530.3	-	28	3636	c.3521C>A	c.(3520-3522)cCc>cAc	p.P1174H	WDR35_ENST00000416055.2_3'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1174					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)					ATGGCATAAGGGGCAGAAGCT	0.398																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3520-3522)cCc>cAc		WD repeat domain 35							168	158	162					2																	20113344		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20113344G>T	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.3521C>A	2.37:g.20113344G>T	ENSP00000314444:p.Pro1174His		Somatic				WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR	p.P1174H	NM_001006657.1	NP_001006658.1	WXS	Illumina GAIIx	Phase_I	Q9P2L0	WDR35_HUMAN			28	3636	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1174					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3521C>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676398	0.88445	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.77229	-1.07;-1.08	5.65	5.65	0.86999	.	0.050998	0.85682	D	0.000000	D	0.90380	0.6989	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91415	0.5154	10	0.87932	D	0	-12.1853	19.0838	0.93194	0.0:0.0:1.0:0.0	.	1163;1174	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	H	1174;1163	ENSP00000314444:P1174H;ENSP00000281405:P1163H	ENSP00000281405:P1163H	P	-	2	0	WDR35	19976825	1.000000	0.71417	0.966000	0.40874	0.825000	0.46686	9.410000	0.97335	2.833000	0.97629	0.655000	0.94253	CCC		0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		6	336	6	336	---	---	---	---	T	20113344	G	T	20113344	3	4	9	1	0	0	0	0	1	0	0	0	17286	1232	43	1	28	1	WDR35	2	20113344	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	10517495	20113344	223086029	116	355										
CGREF1	10669	broad.mit.edu	37	chr2	27324218	27324218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttagactccagtgtttccCctggaagttccttggcctcc	8	14	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.chr2:27324218C>A	ENST00000260595.5	-	7	1122	c.830G>T	c.(829-831)gGg>gTg	p.G277V	CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000402394.1_Missense_Mutation_p.G294V|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	277					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTTTCCCCTGGAAGTTC	0.557																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(880-882)gGg>gTg		cell growth regulator with EF-hand domain 1							209	215	213					2																	27324218		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324218C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.830G>T	2.37:g.27324218C>A	ENSP00000260595:p.Gly277Val		Somatic				CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.G277V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V	p.G294V	NM_006569.5	NP_006560.3	WXS	Illumina GAIIx	Phase_I	Q99674	CGRE1_HUMAN			6	1149	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		277					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.881G>T		.	.	.	.	.	.	.	.	.	.	C	11.18	1.563723	0.27915	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.77877	-1.06;-1.06;-1.06;-1.13;-1.12	5.41	2.56	0.30785	.	0.605300	0.16807	N	0.198717	T	0.60932	0.2307	.	.	.	0.09310	N	0.999998	P	0.43169	0.8	B	0.34180	0.177	T	0.53012	-0.8498	9	0.42905	T	0.14	-15.628	5.7757	0.18277	0.1399:0.6458:0.1355:0.0788	.	277	Q99674	CGRE1_HUMAN	V	294;294;277;294;416;277	ENSP00000385452:G294V;ENSP00000386113:G294V;ENSP00000324025:G294V;ENSP00000385574:G416V;ENSP00000260595:G277V	ENSP00000260595:G277V	G	-	2	0	CGREF1	27177722	0.000000	0.05858	0.055000	0.19348	0.342000	0.28953	-0.707000	0.05041	0.645000	0.30675	0.561000	0.74099	GGG		0.557	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	563	8	563	---	---	---	---	A	27324218	C	A	27324218	3	1	9	1	0	0	0	0	1	0	0	0	3305	623	22	1	271	1	CGREF1	2	27324218	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7210874	27324218	215875155	117	356										
KRTCAP3	200634	broad.mit.edu	37	chr2	27666311	27666311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttgctcatgtctgcagGggaggctgctctatctggtt	12	9	5	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.chr2:27666311G>T	ENST00000543753.1	+	5	574	c.527G>T	c.(526-528)gGg>gTg	p.G176V	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(526-528)gGg>gTg		keratinocyte associated protein 3							127	110	116					2																	27666311		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27666311G>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.527G>T	2.37:g.27666311G>T	ENSP00000442400:p.Gly176Val		Somatic				KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V	p.G176V	NM_001168364.1	NP_001161836.1	WXS	Illumina GAIIx	Phase_I	Q53RY4	KCP3_HUMAN			5	574	+	Acute lymphoblastic leukemia(172;0.155)		176					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.527G>T	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	5.632	0.301243	0.10678	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.37235	1.21;1.21;1.21	5.83	1.72	0.24424	.	0.456748	0.25058	N	0.033471	T	0.11623	0.0283	N	0.01352	-0.895	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.23440	-1.0188	10	0.33940	T	0.23	-16.9571	6.9379	0.24476	0.0:0.5419:0.2691:0.1889	.	176	Q53RY4	KCP3_HUMAN	V	176;176;158	ENSP00000442400:G176V;ENSP00000288873:G176V;ENSP00000384689:G158V	ENSP00000288873:G176V	G	+	2	0	KRTCAP3	27519815	0.001000	0.12720	0.012000	0.15200	0.997000	0.91878	0.176000	0.16782	0.053000	0.16036	0.561000	0.74099	GGG		0.552	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		5	162	5	162	---	---	---	---	T	27666311	G	T	27666311	3	4	9	1	0	0	0	0	1	0	0	0	8579	1232	43	1	545	1	KRTCAP3	2	27666311	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	342093	27666311	215533062	118	357										
IFT172	26160	broad.mit.edu	37	chr2	27688721	27688721	+	Missense_Mutation	SNP	C	C	A													0	0	1	0	0	0	1	1	0	ccatcacctcggtctttcccCcgccccgctccagacctata							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.chr2:27688721C>A	ENST00000260570.3	-	17	1824	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	574					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)					GGTCTTTCCCCCGCCCCGCTC	0.488																																						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.(1720-1722)gGg>gTg		intraflagellar transport 172 homolog (Chlamydomonas)							332	324	326					2																	27688721		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27688721C>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.1721G>T	2.37:g.27688721C>A	ENSP00000260570:p.Gly574Val		Somatic					p.G574V	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			17	1824	-	Acute lymphoblastic leukemia(172;0.155)		574					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1721G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409535	0.42715	.	.	ENSG00000138002	ENST00000260570	T	0.22336	1.96	5.48	2.72	0.32119	.	0.487586	0.24431	N	0.038584	T	0.16642	0.0400	L	0.46157	1.445	0.47308	D	0.999381	B	0.33266	0.404	B	0.31337	0.128	T	0.04693	-1.0933	10	0.72032	D	0.01	-7.6351	6.2864	0.21035	0.0:0.5761:0.0:0.4239	.	574	Q9UG01	IF172_HUMAN	V	574	ENSP00000260570:G574V	ENSP00000260570:G574V	G	-	2	0	IFT172	27542225	0.262000	0.24073	0.604000	0.28916	0.803000	0.45373	2.775000	0.47702	0.704000	0.31869	0.655000	0.94253	GGG		0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	623	9	623	---	---	---	---	A	27688721	C	A	27688721	3	1	9	1	0	0	0	0	1	0	0	0	7557	623	22	1	3656	1	IFT172	2	27688721	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	22410	27688721	215510652	119	358	1	2								
IFT172	26160	broad.mit.edu	37	chr2	27688726	27688726	+	Silent	SNP	C	C	A													0	0	1	0	0	0	1	1	0	acctcggtctttcccccgccCcgctccagacctataacatc							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.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	572					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)					TTCCCCCGCCCCGCTCCAGAC	0.488																																						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.(1714-1716)cgG>cgT		intraflagellar transport 172 homolog (Chlamydomonas)							311	307	309					2																	27688726		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688726C>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.1716G>T	2.37:g.27688726C>A			Somatic					p.R572R	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			17	1819	-	Acute lymphoblastic leukemia(172;0.155)		572					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1716G>T	CCDS1755.1																																																																																				0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		11	602	11	602	---	---	---	---	A	27688726	C	A	27688726	2	1	9	1	0	0	0	0	0	0	0	1	7557	610	22	1		1	IFT172	2	27688726	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5	27688726	215510647	120	359	1	2								
SLC30A6	55676	broad.mit.edu	37	chr2	32418958	32418958	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttatcgttgttctttttagGggaagattattagttggtac	11	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.chr2:32418958G>T	ENST00000282587.5	+	8	439	c.402G>T	c.(400-402)acG>acT	p.T134T	SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	134					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)					TTCTTTTTAGGGGAAGATTAT	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.(400-402)acG>acT		solute carrier family 30 (zinc transporter), member 6							259	235	243					2																	32418958		2202	4300	6502	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32418958G>T	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.402-1G>T	2.37:g.32418958G>T			Somatic				SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T	p.T134T	NM_017964.3	NP_060434.2	WXS	Illumina GAIIx	Phase_I	Q6NXT4	ZNT6_HUMAN			8	439	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		134					A5YM45|B7Z901|Q8N5C9|Q96NC3	Splice_Site	SNP	ENST00000282587.5	37	c.402G>T	CCDS1780.1																																																																																				0.358	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		Silent	6	312	6	312	---	---	---	---	T	32418958	G	T	32418958	5	4	9	1	0	0	0	0	0	0	1	0	14559	1246	43	1	432	1	SLC30A6	2	32418958	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4730232	32418958	210780415	121	360										
NLRC4	58484	broad.mit.edu	37	chr2	32474764	32474764	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctcatcttctatggtgagGggactggcttccaccatgag	11	11	3	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.chr2:32474764G>T	ENST00000404025.2	-	5	2657	c.2169C>A	c.(2167-2169)ccC>ccA	p.P723P	NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	723					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)					CTATGGTGAGGGGACTGGCTT	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2167-2169)ccC>ccA		NLR family, CARD domain containing 4							159	154	156					2																	32474764		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:32474764G>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.2169C>A	2.37:g.32474764G>T			Somatic				NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron	p.P723P			WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			5	2657	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		723					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2169C>A	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	358	6	358	---	---	---	---	T	32474764	G	T	32474764	2	4	9	1	0	0	0	0	0	0	0	1	10469	1219	43	1		1	NLRC4	2	32474764	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	55806	32474764	210724609	122	361										
CDC42EP3	10602	broad.mit.edu	37	chr2	37873715	37873715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgctttcaggtaaattgGggtcttggctggcattttgg	15	6	2	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.chr2:37873715G>T	ENST00000295324.3	-	2	1016	c.16C>A	c.(16-18)Cca>Aca	p.P6T	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	6					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)				AGGTAAATTGGGGTCTTGGCT	0.418																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(16-18)Cca>Aca		CDC42 effector protein (Rho GTPase binding) 3							143	152	149					2																	37873715		2202	4300	6502	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873715G>T	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.16C>A	2.37:g.37873715G>T	ENSP00000295324:p.Pro6Thr		Somatic				AC006369.2_ENST00000419425.1_RNA	p.P6T	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	WXS	Illumina GAIIx	Phase_I	Q9UKI2	BORG2_HUMAN			2	1016	-		all_hematologic(82;0.172)	6					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.16C>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080399	0.76528	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.39056	1.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67868	-0.5559	10	0.72032	D	0.01	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	6	Q9UKI2	BORG2_HUMAN	T	6	ENSP00000295324:P6T	ENSP00000295324:P6T	P	-	1	0	CDC42EP3	37727219	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.669000	0.98622	2.793000	0.96121	0.655000	0.94253	CCA		0.418	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		7	376	7	376	---	---	---	---	T	37873715	G	T	37873715	3	4	9	1	0	0	0	0	1	0	0	0	3077	1232	43	1	752	1	CDC42EP3	2	37873715	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5398951	37873715	205325658	123	362										
ATL2	64225	broad.mit.edu	37	chr2	38536592	38536592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttctaccaaattttcagGggcaagcagcaatggaacca	8	9	2	0	rs371444918		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.chr2:38536592G>T	ENST00000378954.4	-	9	1001	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	334	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						AAATTTTCAGGGGCAAGCAGC	0.328																																						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.(1000-1002)Cct>Act		atlastin GTPase 2							89	89	89					2																	38536592		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.chr2:38536592G>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.1000C>A	2.37:g.38536592G>T	ENSP00000368237:p.Pro334Thr		Somatic				ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T	p.P334T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	WXS	Illumina GAIIx	Phase_I	Q8NHH9	ATLA2_HUMAN			9	1001	-			334					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1000C>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404269	0.83230	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130	D;D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.16	6.17	6.17	0.99709	Guanylate-binding protein, N-terminal (1);	0.045464	0.85682	D	0.000000	D	0.96364	0.8814	M	0.82823	2.61	0.80722	D	1	D;P;P;P;B	0.71674	0.998;0.583;0.528;0.867;0.406	D;P;B;P;P	0.68483	0.958;0.454;0.325;0.689;0.51	D	0.95703	0.8751	10	0.56958	D	0.05	-16.431	19.8676	0.96824	0.0:0.0:1.0:0.0	.	163;316;316;334;334	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	T	334;163;163;163;316;334;316;163;152	ENSP00000368237:P334T;ENSP00000385446:P163T;ENSP00000384062:P163T;ENSP00000446192:P163T;ENSP00000333393:P316T;ENSP00000415336:P334T;ENSP00000390743:P316T;ENSP00000438938:P163T;ENSP00000409811:P152T	ENSP00000333393:P316T	P	-	1	0	ATL2	38390096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.877000	0.87225	2.941000	0.99782	0.655000	0.94253	CCT		0.328	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		6	185	6	185	---	---	---	---	T	38536592	G	T	38536592	3	4	9	1	0	0	0	0	1	0	0	0	1107	1232	43	1	883	1	ATL2	2	38536592	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	662877	38536592	204662781	124	363										
ABCG8	64241	broad.mit.edu	37	chr2	44100976	44100976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccaccctcctcatccatgGggcggaggcctgtctgatgt	12	15	2	1	rs376999484		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.chr2:44100976G>T	ENST00000272286.2	+	9	1352	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	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)|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)	CTCATCCATGGGGCGGAGGCC	0.537																																						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.(1261-1263)gGg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8		G	VAL/GLY	0,4406		0,0,2203	203	201	201		1262	2.3	0	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG8	NM_022437.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	421/674	44100976	1,13005	2203	4300	6503	SO:0001583	missense	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.chr2:44100976G>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.1262G>T	2.37:g.44100976G>T	ENSP00000272286:p.Gly421Val		Somatic					p.G421V	NM_022437.2	NP_071882.1	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			9	1352	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	421			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1262G>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859992	0.32884	0.0	1.16E-4	ENSG00000143921	ENST00000272286	T	0.69561	-0.41	5.16	2.28	0.28536	ABC-2 type transporter (1);	0.191677	0.56097	N	0.000033	T	0.73513	0.3596	M	0.68317	2.08	0.80722	D	1	P;D	0.53151	0.948;0.958	P;P	0.57846	0.628;0.828	T	0.69446	-0.5143	10	0.33141	T	0.24	.	11.7577	0.51884	0.0:0.2353:0.6357:0.129	.	420;421	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	421	ENSP00000272286:G421V	ENSP00000272286:G421V	G	+	2	0	ABCG8	43954480	1.000000	0.71417	0.015000	0.15790	0.541000	0.35023	5.077000	0.64419	0.172000	0.19760	0.561000	0.74099	GGG		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		7	463	7	463	---	---	---	---	T	44100976	G	T	44100976	3	4	9	1	0	0	0	0	1	0	0	0	72	1232	43	1	1296	1	ABCG8	2	44100976	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5564384	44100976	199098397	125	364										
MSH6	2956	broad.mit.edu	37	chr2	48018072	48018072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttttggcaacagttgtgaCttctcaccaggagatttggt	10	9	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.chr2:48018072C>A	ENST00000234420.5	+	2	419	c.267C>A	c.(265-267)gaC>gaA	p.D89E	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	89					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)|p.D89E(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)			ACAGTTGTGACTTCTCACCAG	0.433			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			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.0?(2)|p.D89E(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.(265-267)gaC>gaA	Mismatch excision repair (MMR)	mutS homolog 6							82	77	79					2																	48018072		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.chr2:48018072C>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.267C>A	2.37:g.48018072C>A	ENSP00000234420:p.Asp89Glu		Somatic				MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	p.D89E	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	419	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.267C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	5.680	0.310048	0.10733	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255	T	0.69685	-0.42	5.77	2.99	0.34606	PWWP (1);	0.444406	0.24143	N	0.041152	T	0.41305	0.1153	N	0.25094	0.71	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.003	T	0.14952	-1.0454	10	0.07325	T	0.83	-22.5109	3.0051	0.06026	0.1136:0.5165:0.1106:0.2593	.	89;89	P52701;P52701-2	MSH6_HUMAN;.	E	89;87;89	ENSP00000234420:D89E	ENSP00000234420:D89E	D	+	3	2	MSH6	47871576	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	0.129000	0.15830	0.791000	0.33826	0.557000	0.71058	GAC		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		5	201	5	201	---	---	---	---	A	48018072	C	A	48018072	3	1	9	1	0	0	0	0	1	0	0	0	9874	564	20	3	273	3	MSH6	2	48018072	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3917096	48018072	195181301	126	365										
MSH6	2956	broad.mit.edu	37	chr2	48026149	48026149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgagagctttctctgccCctcaaaattctgaatcccaa	5	13	3	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.chr2:48026149C>A	ENST00000234420.5	+	4	1179	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	343					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)			TTTCTCTGCCCCTCAAAATTC	0.443			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			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.(1027-1029)Cct>Act	Mismatch excision repair (MMR)	mutS homolog 6							110	116	114					2																	48026149		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.chr2:48026149C>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.1027C>A	2.37:g.48026149C>A	ENSP00000234420:p.Pro343Thr		Somatic				MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron	p.P343T	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1179	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1027C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803347	0.31869	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87029	-1.9;-2.03;-2.2	4.41	1.39	0.22231	.	0.180321	0.49916	D	0.000133	D	0.82802	0.5116	M	0.68952	2.095	0.80722	D	1	B;B;B	0.15930	0.015;0.008;0.006	B;B;B	0.19391	0.003;0.021;0.025	T	0.76623	-0.2891	10	0.59425	D	0.04	-9.3421	6.0806	0.19938	0.1383:0.6528:0.1335:0.0754	.	213;343;343	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	T	343;341;213;41	ENSP00000234420:P343T;ENSP00000446475:P213T;ENSP00000438580:P41T	ENSP00000234420:P343T	P	+	1	0	MSH6	47879653	0.965000	0.33210	0.996000	0.52242	0.338000	0.28826	2.281000	0.43452	0.478000	0.27488	-0.150000	0.13652	CCT		0.443	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		6	260	6	260	---	---	---	---	A	48026149	C	A	48026149	3	1	9	1	0	0	0	0	1	0	0	0	9874	623	22	1	1041	1	MSH6	2	48026149	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8077	48026149	195173224	127	366										
MSH6	2956	broad.mit.edu	37	chr2	48027463	48027463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaagcaatggctttgtgccCcactctgtaaccattatgct	7	11	1	0	rs587779235		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.chr2:48027463C>A	ENST00000234420.5	+	4	2493	c.2341C>A	c.(2341-2343)Cca>Aca	p.P781T	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	781					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)|p.P781T(1)		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)			GCTTTGTGCCCCACTCTGTAA	0.433			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			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		3	Whole gene deletion(2)|Substitution - Missense(1)	p.0?(2)|p.P781T(1)	haematopoietic_and_lymphoid_tissue(2)|lung(1)	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.(2341-2343)Cca>Aca	Mismatch excision repair (MMR)	mutS homolog 6							147	144	145					2																	48027463		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.chr2:48027463C>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.2341C>A	2.37:g.48027463C>A	ENSP00000234420:p.Pro781Thr		Somatic				MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron	p.P781T	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2493	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2341C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393267	0.62066	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.99264	-5.65;-5.65;-5.65	5.54	4.63	0.57726	DNA mismatch repair protein MutS, core (3);	0.094859	0.85682	D	0.000000	D	0.99563	0.9843	H	0.94503	3.545	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	0.97885	1.0294	10	0.87932	D	0	-4.5578	15.7962	0.78412	0.1365:0.8635:0.0:0.0	.	651;781;781	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	T	781;779;651;479	ENSP00000234420:P781T;ENSP00000446475:P651T;ENSP00000438580:P479T	ENSP00000234420:P781T	P	+	1	0	MSH6	47880967	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.761000	0.85260	2.609000	0.88269	0.460000	0.39030	CCA		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		7	428	7	428	---	---	---	---	A	48027463	C	A	48027463	3	1	9	1	0	0	0	0	1	0	0	0	9874	623	22	1	2355	1	MSH6	2	48027463	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1314	48027463	195171910	128	367										
REL	5966	broad.mit.edu	37	chr2	61118892	61118892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttttagatacaaatgtgaaGggcgatcagcaggcagcatt	12	6	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.chr2:61118892G>T	ENST00000295025.8	+	2	405	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	REL_ENST00000394479.3_Missense_Mutation_p.G29W	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	29	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAAATGTGAAGGGCGATCAGC	0.453			A		Hodgkin Lymphoma																																	ENST00000295025.8				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(85-87)Ggg>Tgg		v-rel avian reticuloendotheliosis viral oncogene homolog							182	165	171					2																	61118892		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61118892G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.85G>T	2.37:g.61118892G>T	ENSP00000295025:p.Gly29Trp		Somatic				REL_ENST00000394479.3_Missense_Mutation_p.G29W	p.G29W	NM_002908.2	NP_002899.1	WXS	Illumina GAIIx	Phase_I	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		2	405	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)				RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.85G>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070885	0.93950	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87240	0.2266	10	0.87932	D	0	-19.7816	19.6332	0.95719	0.0:0.0:1.0:0.0	.	29;29	Q17RU2;Q04864	.;REL_HUMAN	W	29	ENSP00000295025:G29W;ENSP00000377989:G29W	ENSP00000295025:G29W	G	+	1	0	REL	60972396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.642000	0.89623	0.650000	0.86243	GGG		0.453	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		5	211	5	211	---	---	---	---	T	61118892	G	T	61118892	3	4	9	1	0	0	0	0	1	0	0	0	13215	1000	35	1	91	1	REL	2	61118892	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13091429	61118892	182080481	129	368										
REL	5966	broad.mit.edu	37	chr2	61148946	61148946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgagagaaatgcctacagGggtttcaagtcaagcagaat	12	6	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.chr2:61148946G>T	ENST00000295025.8	+	11	1456	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	REL_ENST00000394479.3_Missense_Mutation_p.G347V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	379					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGCCTACAGGGGTTTCAAGT	0.408			A		Hodgkin Lymphoma																																	ENST00000295025.8				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1135-1137)gGg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog							94	94	94					2																	61148946		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61148946G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1136G>T	2.37:g.61148946G>T	ENSP00000295025:p.Gly379Val		Somatic				REL_ENST00000394479.3_Missense_Mutation_p.G347V	p.G379V	NM_002908.2	NP_002899.1	WXS	Illumina GAIIx	Phase_I	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1456	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)						Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1136G>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052604	0.36181	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.49432	0.78;0.92	4.87	3.03	0.35002	.	2.402220	0.01687	N	0.026453	T	0.53302	0.1788	L	0.29908	0.895	0.40496	D	0.980593	D;D	0.76494	0.999;0.993	D;P	0.68353	0.957;0.855	T	0.59456	-0.7451	10	0.16896	T	0.51	-29.0106	4.7449	0.13033	0.1891:0.0:0.6407:0.1702	.	347;379	Q17RU2;Q04864	.;REL_HUMAN	V	379;347	ENSP00000295025:G379V;ENSP00000377989:G347V	ENSP00000295025:G379V	G	+	2	0	REL	61002450	0.034000	0.19679	0.084000	0.20598	0.861000	0.49209	0.833000	0.27504	1.055000	0.40461	0.650000	0.86243	GGG		0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		6	228	6	228	---	---	---	---	T	61148946	G	T	61148946	3	4	9	1	0	0	0	0	1	0	0	0	13215	1232	43	1	1178	1	REL	2	61148946	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	30054	61148946	182050427	130	369										
B3GNT2	10678	broad.mit.edu	37	chr2	62449806	62449806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttgctggcgattaagtccCtcactccacattttgccaga	8	12	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.chr2:62449806C>A	ENST00000301998.4	+	2	703	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	151					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATTAAGTCCCTCACTCCACA	0.498																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(451-453)Ctc>Atc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							81	88	86					2																	62449806		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449806C>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.451C>A	2.37:g.62449806C>A	ENSP00000305595:p.Leu151Ile		Somatic				B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	p.L151I	NM_006577.5	NP_006568.2	WXS	Illumina GAIIx	Phase_I	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	703	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		151					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.451C>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367660	0.61513	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.27104	1.69;1.69	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.58428	1.81	0.58432	D	0.999998	D	0.69078	0.997	D	0.63703	0.917	T	0.09335	-1.0679	10	0.37606	T	0.19	.	13.1886	0.59697	0.0:0.9276:0.0:0.0724	.	151	Q9NY97	B3GN2_HUMAN	I	151	ENSP00000305595:L151I;ENSP00000384692:L151I	ENSP00000305595:L151I	L	+	1	0	B3GNT2	62303310	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	3.283000	0.51701	2.716000	0.92895	0.655000	0.94253	CTC		0.498	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		6	228	6	228	---	---	---	---	A	62449806	C	A	62449806	3	1	9	1	0	0	0	0	1	0	0	0	1257	681	24	1	453	1	B3GNT2	2	62449806	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1300860	62449806	180749567	131	370										
PROKR1	10887	broad.mit.edu	37	chr2	68882252	68882252	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctttggcatagaattcgtGggccccgtggtcaccatgac	11	11	2	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.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			Somatic				PROKR1_ENST00000394342.2_Silent_p.V242V	p.V242V			WXS	Illumina GAIIx	Phase_I	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	32	86	---	---	---	---	T	68882252	G	T	68882252	2	4	9	1	0	0	0	0	0	0	0	1	12552	1335	47	1		1	PROKR1	2	68882252	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6432446	68882252	174317121	132	371										
GFPT1	2673	broad.mit.edu	37	chr2	69554133	69554133	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaagcagtccactgagtgGggcaccttgatcgttctttt	11	10	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.chr2:69554133G>T	ENST00000357308.4	-	19	2146	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	GFPT1_ENST00000361060.5_Silent_p.P638P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	656	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCACTGAGTGGGGCACCTTGA	0.473																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1966-1968)ccC>ccA		glutamine--fructose-6-phosphate transaminase 1							170	137	148					2																	69554133		2203	4300	6503	SO:0001819	synonymous_variant	2673				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.chr2:69554133G>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1968C>A	2.37:g.69554133G>T			Somatic				GFPT1_ENST00000361060.5_Silent_p.P638P	p.P656P	NM_001244710.1	NP_001231639.1	WXS	Illumina GAIIx	Phase_I	Q06210	GFPT1_HUMAN			19	2146	-			656			SIS 2.		Q53QE6|Q9BXF8	Silent	SNP	ENST00000357308.4	37	c.1968C>A	CCDS58713.1																																																																																				0.473	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	171	5	171	---	---	---	---	T	69554133	G	T	69554133	2	4	9	1	0	0	0	0	0	0	0	1	6345	1219	43	1		1	GFPT1	2	69554133	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	671881	69554133	173645240	133	372										
SNRNP27	11017	broad.mit.edu	37	chr2	70122252	70122252	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcgttcccggtccacatccCgggagagagaacgcaggcgc	15	14	0	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.chr2:70122252C>A	ENST00000244227.3	+	2	486	c.61C>A	c.(61-63)Cgg>Agg	p.R21R	SNRNP27_ENST00000409116.1_Silent_p.R21R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	21	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R21W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCCACATCCCGGGAGAGAGA	0.562																																						ENST00000244227.3																			1	Substitution - Missense(1)	p.R21W(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(61-63)Cgg>Agg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							91	103	99					2																	70122252		2203	4300	6503	SO:0001819	synonymous_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70122252C>A	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.61C>A	2.37:g.70122252C>A			Somatic				SNRNP27_ENST00000409116.1_Silent_p.R21R	p.R21R	NM_006857.2	NP_006848.1	WXS	Illumina GAIIx	Phase_I	Q8WVK2	SNR27_HUMAN			2	486	+			21			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.61C>A	CCDS33219.1																																																																																				0.562	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		6	273	6	273	---	---	---	---	A	70122252	C	A	70122252	2	1	9	1	0	0	0	0	0	0	0	1	14854	643	23	1		1	SNRNP27	2	70122252	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	568119	70122252	173077121	134	373										
SNRPG	6637	broad.mit.edu	37	chr2	70515272	70515272	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctatcacaaggttcataaaGggatcaaatccccgcaatat	6	10	4	0	rs371683189		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.chr2:70515272G>T	ENST00000272348.2	-	3	229	c.108C>A	c.(106-108)ccC>ccA	p.P36P	SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000482975.2_Silent_p.P24P|SNRPG_ENST00000429728.1_5'UTR	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	36					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						GGTTCATAAAGGGATCAAATC	0.368																																					NSCLC(57;761 1258 15082 39958 48415)	ENST00000482975.2																			0				endometrium(1)	1						c.(70-72)ccC>ccA		small nuclear ribonucleoprotein polypeptide G							79	80	79					2																	70515272		2203	4297	6500	SO:0001819	synonymous_variant	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.chr2:70515272G>T	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.108C>A	2.37:g.70515272G>T			Somatic				SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000272348.2_Silent_p.P36P	p.P24P			WXS	Illumina GAIIx	Phase_I	P62308	RUXG_HUMAN			3	839	-			36					D6W5G6|Q15357|Q6IB86	Silent	SNP	ENST00000272348.2	37	c.72C>A	CCDS1903.1																																																																																				0.368	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2			5	172	5	172	---	---	---	---	T	70515272	G	T	70515272	2	4	9	1	0	0	0	0	0	0	0	1	14869	987	35	1		1	SNRPG	2	70515272	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	393020	70515272	172684101	135	374										
MOGS	7841	broad.mit.edu	37	chr2	74690103	74690103	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaccatctctgtcagcagGggcagtcctgggttggaggt	14	9	2	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.chr2:74690103G>T	ENST00000233616.4	-	4	975	c.813C>A	c.(811-813)ccC>ccA	p.P271P	MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_Missense_Mutation_p.P208H	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	271					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						CTGTCAGCAGGGGCAGTCCTG	0.517																																						ENST00000409065.1																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(622-624)cCc>cAc		mannosyl-oligosaccharide glucosidase							101	109	107					2																	74690103		2004	4188	6192	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.chr2:74690103G>T	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.813C>A	2.37:g.74690103G>T			Somatic				MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000233616.4_Silent_p.P271P|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000535045.1_3'UTR	p.P208H			WXS	Illumina GAIIx	Phase_I	Q13724	MOGS_HUMAN			4	760	-			0					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.623C>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221605	0.09863	.	.	ENSG00000115275	ENST00000409065	.	.	.	4.7	-5.42	0.02640	.	0.276731	0.34986	N	0.003530	T	0.45196	0.1330	.	.	.	0.36554	D	0.872005	.	.	.	.	.	.	T	0.49123	-0.8972	6	0.87932	D	0	-10.6857	1.56	0.02593	0.2085:0.1048:0.2595:0.4271	.	.	.	.	H	208	.	ENSP00000386493:P208H	P	-	2	0	MOGS	74543611	0.044000	0.20184	0.689000	0.30133	0.986000	0.74619	-1.025000	0.03600	-1.003000	0.03425	-0.895000	0.02911	CCC		0.517	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		9	323	9	323	---	---	---	---	T	74690103	G	T	74690103	2	4	9	1	0	0	0	0	0	0	0	1	9697	1219	43	1		1	MOGS	2	74690103	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4174831	74690103	168509270	136	375										
SEMA4C	54910	broad.mit.edu	37	chr2	97530119	97530119	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgacaggtacatgtcaccCctgtcacagcgagagggagc	13	13	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.chr2:97530119C>A	ENST00000305476.5	-	10	1095	c.963G>T	c.(961-963)tgG>tgT	p.W321C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	321	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						ACATGTCACCCCTGTCACAGC	0.582																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(961-963)tgG>tgT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							76	78	78					2																	97530119		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:97530119C>A	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.963-1G>T	2.37:g.97530119C>A			Somatic					p.W321C	NM_017789.4	NP_060259.4	WXS	Illumina GAIIx	Phase_I	Q9C0C4	SEM4C_HUMAN			10	1095	-			321			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Splice_Site	SNP	ENST00000305476.5	37	c.963G>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131853	0.37630	.	.	ENSG00000168758	ENST00000305476	T	0.32515	1.45	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.136293	0.56097	D	0.000025	T	0.60143	0.2246	M	0.87682	2.9	0.80722	D	1	D;D	0.60575	0.965;0.988	P;D	0.64410	0.819;0.925	T	0.65717	-0.6100	10	0.49607	T	0.09	.	17.4894	0.87699	0.0:1.0:0.0:0.0	.	321;31	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	321	ENSP00000306844:W321C	ENSP00000306844:W321C	W	-	3	0	SEMA4C	96893846	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	5.895000	0.69814	2.413000	0.81919	0.561000	0.74099	TGG		0.582	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789	Missense_Mutation	5	172	5	172	---	---	---	---	A	97530119	C	A	97530119	5	1	9	1	0	0	0	0	0	0	1	0	14033	637	22	1	1562	1	SEMA4C	2	97530119	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	22840016	97530119	145669254	137	376										
SEMA4C	54910	broad.mit.edu	37	chr2	97531227	97531227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtcatagggacacttgccCttcccatcttcaaactctcc	7	15	4	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.chr2:97531227C>A	ENST00000305476.5	-	6	600	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	156	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						GACACTTGCCCTTCCCATCTT	0.567																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(466-468)aaG>aaT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							91	81	84					2																	97531227		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.chr2:97531227C>A	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.468G>T	2.37:g.97531227C>A	ENSP00000306844:p.Lys156Asn		Somatic					p.K156N	NM_017789.4	NP_060259.4	WXS	Illumina GAIIx	Phase_I	Q9C0C4	SEM4C_HUMAN			6	600	-			156			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.468G>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309444	0.81247	.	.	ENSG00000168758	ENST00000305476;ENST00000442264	T;T	0.11930	2.73;2.73	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099987	0.64402	D	0.000003	T	0.37892	0.1020	M	0.78801	2.425	0.80722	D	1	P	0.46912	0.886	P	0.58928	0.848	T	0.13442	-1.0509	10	0.87932	D	0	.	17.9386	0.89020	0.0:1.0:0.0:0.0	.	156	Q9C0C4	SEM4C_HUMAN	N	156	ENSP00000306844:K156N;ENSP00000393498:K156N	ENSP00000306844:K156N	K	-	3	2	SEMA4C	96894954	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	1.475000	0.35409	2.523000	0.85059	0.448000	0.29417	AAG		0.567	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	96	6	96	---	---	---	---	A	97531227	C	A	97531227	3	1	9	1	0	0	0	0	1	0	0	0	14033	680	24	1	2073	1	SEMA4C	2	97531227	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1108	97531227	145668146	138	377										
SLC9A4	389015	broad.mit.edu	37	chr2	103141515	103141515	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaaatacaacctcaaaccCcaaacaagtgagaagcaggc	6	12	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.chr2:103141515C>A	ENST00000295269.4	+	10	2308	c.1851C>A	c.(1849-1851)ccC>ccA	p.P617P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	617					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCAAACCCCAAACAAGTG	0.498																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1849-1851)ccC>ccA		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							185	198	193					2																	103141515		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141515C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1851C>A	2.37:g.103141515C>A			Somatic					p.P617P	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			10	2308	+			617					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.1851C>A	CCDS33264.1																																																																																				0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	447	7	447	---	---	---	---	A	103141515	C	A	103141515	2	1	9	1	0	0	0	0	0	0	0	1	14716	610	22	1		1	SLC9A4	2	103141515	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5610288	103141515	140057858	139	378										
SLC9A4	389015	broad.mit.edu	37	chr2	103148815	103148815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagcagtgatccaggatccCcatccatcacgttcagcgca	8	15	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.chr2:103148815C>A	ENST00000295269.4	+	12	2522	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	689					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCAGGATCCCCATCCATCAC	0.458																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2065-2067)Cca>Aca		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							104	105	105					2																	103148815		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148815C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2065C>A	2.37:g.103148815C>A	ENSP00000295269:p.Pro689Thr		Somatic					p.P689T	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			12	2522	+			689					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2065C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	4.506	0.093954	0.08632	.	.	ENSG00000180251	ENST00000295269	T	0.41400	1.0	4.9	2.92	0.33932	.	0.335659	0.23746	N	0.044962	T	0.22551	0.0544	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.17440	-1.0369	10	0.09843	T	0.71	.	5.203	0.15275	0.0:0.614:0.1695:0.2165	.	689	Q6AI14	SL9A4_HUMAN	T	689	ENSP00000295269:P689T	ENSP00000295269:P689T	P	+	1	0	SLC9A4	102515247	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.278000	0.18753	1.063000	0.40649	0.655000	0.94253	CCA		0.458	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	199	6	199	---	---	---	---	A	103148815	C	A	103148815	3	1	9	1	0	0	0	0	1	0	0	0	14716	623	22	1	2111	1	SLC9A4	2	103148815	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7300	103148815	140050558	140	379										
SULT1C4	27233	broad.mit.edu	37	chr2	108998896	108998896	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcctgaaaacacatcttccCtttcacttgctgccaccatc	3	16	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.chr2:108998896C>A	ENST00000272452.2	+	3	677	c.351C>A	c.(349-351)ccC>ccA	p.P117P	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P117P(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CACATCTTCCCTTTCACTTGC	0.388																																						ENST00000272452.2																			1	Substitution - coding silent(1)	p.P117P(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(349-351)ccC>ccA		sulfotransferase family, cytosolic, 1C, member 4							239	224	229					2																	108998896		2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998896C>A	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"Sulfotransferases, cytosolic"	11457	protein-coding gene	gene with protein product		608357	"sulfotransferase family, cytosolic, 1C, member 2"	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.351C>A	2.37:g.108998896C>A			Somatic				SULT1C4_ENST00000409309.3_Intron	p.P117P	NM_006588.2	NP_006579.2	WXS	Illumina GAIIx	Phase_I	O75897	ST1C4_HUMAN			3	677	+			117					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.351C>A	CCDS2077.1																																																																																				0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		7	473	7	473	---	---	---	---	A	108998896	C	A	108998896	2	1	9	1	0	0	0	0	0	0	0	1	15376	668	24	1		1	SULT1C4	2	108998896	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5850081	108998896	134200477	141	380										
DDX18	8886	broad.mit.edu	37	chr2	118577355	118577355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgaggtgcccagtctgccCctgggactgacaggtaacgt	14	11	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.chr2:118577355C>A	ENST00000263239.2	+	3	629	c.501C>A	c.(499-501)ccC>ccA	p.P167P	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	167					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						CCAGTCTGCCCCTGGGACTGA	0.423																																						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.(499-501)ccC>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							76	77	76					2																	118577355		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577355C>A	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.501C>A	2.37:g.118577355C>A			Somatic				DDX18_ENST00000474694.1_3'UTR	p.P167P	NM_006773.3	NP_006764.3	WXS	Illumina GAIIx	Phase_I	Q9NVP1	DDX18_HUMAN			3	629	+			167					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.501C>A	CCDS2120.1																																																																																				0.423	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		4	80	4	80	---	---	---	---	A	118577355	C	A	118577355	2	1	9	1	0	0	0	0	0	0	0	1	4345	610	22	1		1	DDX18	2	118577355	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9578459	118577355	124622018	142	381										
GPR17	2840	broad.mit.edu	37	chr2	128408804	128408804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggctgtggccatggccccGctgctggtgagcccacagac	15	14	0	2	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_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Silent_p.P193P|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_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	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	2840					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			Somatic				LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron	p.P193P	NM_001161415.1	NP_001154887.1	WXS	Illumina GAIIx	Phase_I	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	45	106	---	---	---	---	A	128408804	G	A	128408804	2	1	9	1	0	0	0	0	0	0	0	1	6667	1074	38	2		2	GPR17	2	128408804	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9831449	128408804	114790569	143	382										
WDR33	55339	broad.mit.edu	37	chr2	128467377	128467377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggaccaggaaaaccatccCttcctctggggggagcacgg	13	13	1	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.chr2:128467377C>A	ENST00000322313.4	-	19	3520	c.3362G>T	c.(3361-3363)aGg>aTg	p.R1121M		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1121					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)		AAAACCATCCCTTCCTCTGGG	0.557																																						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.(3361-3363)aGg>aTg		WD repeat domain 33							104	119	114					2																	128467377		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467377C>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.3362G>T	2.37:g.128467377C>A	ENSP00000325377:p.Arg1121Met		Somatic					p.R1121M	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3520	-	Colorectal(110;0.1)		1121					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3362G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265324	0.80358	.	.	ENSG00000136709	ENST00000322313	D	0.91124	-2.79	5.32	5.32	0.75619	.	0.155521	0.52532	D	0.000078	D	0.91324	0.7264	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.90914	0.4778	10	0.34782	T	0.22	-12.1176	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1121	Q9C0J8	WDR33_HUMAN	M	1121	ENSP00000325377:R1121M	ENSP00000325377:R1121M	R	-	2	0	WDR33	128183847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.359000	0.66074	2.493000	0.84123	0.561000	0.74099	AGG		0.557	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		6	380	6	380	---	---	---	---	A	128467377	C	A	128467377	3	1	9	1	0	0	0	0	1	0	0	0	17284	681	24	1	664	1	WDR33	2	128467377	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	58573	128467377	114731996	144	383										
NCKAP5	344148	broad.mit.edu	37	chr2	133541067	133541067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgatggtgactcatttaccCctaagaaggaaggcttgggg	13	7	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.chr2:133541067C>A	ENST00000409261.1	-	14	3690	c.3317G>T	c.(3316-3318)gGg>gTg	p.G1106V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1106	Ser-rich.									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						CTCATTTACCCCTAAGAAGGA	0.498																																						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.(3316-3318)gGg>gTg		NCK-associated protein 5							219	233	228					2																	133541067		2062	4204	6266	SO:0001583	missense	344148						protein binding	g.chr2:133541067C>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.3317G>T	2.37:g.133541067C>A	ENSP00000387128:p.Gly1106Val		Somatic				NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000405974.3_Intron	p.G1106V	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	3690	-			1106			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3317G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245924	0.22796	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11169	2.8;2.8	5.41	3.58	0.41010	.	0.478549	0.15584	U	0.254750	T	0.08891	0.0220	L	0.27053	0.805	0.21473	N	0.999675	P	0.49090	0.919	B	0.43575	0.424	T	0.18272	-1.0342	10	0.45353	T	0.12	.	8.2267	0.31572	0.1547:0.7668:0.0:0.0784	.	1106	O14513	NCKP5_HUMAN	V	1106	ENSP00000387128:G1106V;ENSP00000380603:G1106V	ENSP00000380603:G1106V	G	-	2	0	NCKAP5	133257537	0.004000	0.15560	0.060000	0.19600	0.189000	0.23516	0.788000	0.26872	0.826000	0.34661	0.655000	0.94253	GGG		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	465	8	465	---	---	---	---	A	133541067	C	A	133541067	3	1	9	1	0	0	0	0	1	0	0	0	10223	623	22	1	2440	1	NCKAP5	2	133541067	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5073690	133541067	109658306	145	384										
ZRANB3	84083	broad.mit.edu	37	chr2	136026567	136026567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccacataagggtgtctaGggttccatttgcaataaggt	10	9	1	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.chr2:136026567G>T	ENST00000264159.6	-	11	1467	c.1351C>A	c.(1351-1353)Cta>Ata	p.L451I	ZRANB3_ENST00000401392.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	451	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		AGGGTGTCTAGGGTTCCATTT	0.408																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1351-1353)Cta>Ata		zinc finger, RAN-binding domain containing 3							208	200	202					2																	136026567		1861	4099	5960	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136026567G>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.1351C>A	2.37:g.136026567G>T	ENSP00000264159:p.Leu451Ile		Somatic				ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L451I	p.L451I			WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	11	1563	-			451			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1351C>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.070212	0.36566	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91792	-2.91;-2.91;-2.91	5.31	2.57	0.30868	Helicase, C-terminal (1);	0.133058	0.52532	D	0.000079	T	0.80691	0.4671	N	0.11023	0.085	0.35771	D	0.820886	B;B	0.29481	0.245;0.114	B;B	0.35470	0.104;0.203	T	0.70565	-0.4837	10	0.16896	T	0.51	-10.6934	4.072	0.09887	0.3027:0.0:0.4321:0.2653	.	451;451	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	451	ENSP00000383979:L451I;ENSP00000264159:L451I;ENSP00000441320:L451I	ENSP00000264159:L451I	L	-	1	2	ZRANB3	135743037	0.981000	0.34729	0.999000	0.59377	0.900000	0.52787	1.385000	0.34408	0.347000	0.23924	-0.119000	0.15052	CTA		0.408	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		6	378	6	378	---	---	---	---	T	136026567	G	T	136026567	3	4	9	1	0	0	0	0	1	0	0	0	18221	991	35	1	1932	1	ZRANB3	2	136026567	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2485500	136026567	107172806	146	385										
SPOPL	339745	broad.mit.edu	37	chr2	139322356	139322356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagagaatgttgcagataccCttgtccttgcagatttgcac	9	9	0	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.chr2:139322356C>A	ENST00000280098.4	+	9	1295	c.916C>A	c.(916-918)Ctt>Att	p.L306I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	306					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)		TGCAGATACCCTTGTCCTTGC	0.413																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(916-918)Ctt>Att		speckle-type POZ protein-like							201	190	194					2																	139322356		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139322356C>A		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.916C>A	2.37:g.139322356C>A	ENSP00000280098:p.Leu306Ile		Somatic					p.L306I	NM_001001664.2	NP_001001664.1	WXS	Illumina GAIIx	Phase_I	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	9	1295	+			306						Missense_Mutation	SNP	ENST00000280098.4	37	c.916C>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795587	0.90453	.	.	ENSG00000144228	ENST00000280098	T	0.81078	-1.45	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.85630	2.765	0.80722	D	1	P	0.47484	0.896	P	0.54924	0.764	D	0.89295	0.3622	9	.	.	.	-13.4338	19.457	0.94897	0.0:1.0:0.0:0.0	.	306	Q6IQ16	SPOPL_HUMAN	I	306	ENSP00000280098:L306I	.	L	+	1	0	SPOPL	139038826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.050000	0.71063	2.676000	0.91093	0.655000	0.94253	CTT		0.413	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			7	377	7	377	---	---	---	---	A	139322356	C	A	139322356	3	1	9	1	0	0	0	0	1	0	0	0	15084	681	24	1	946	1	SPOPL	2	139322356	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3295789	139322356	103877017	147	386										
SCN1A	6323	broad.mit.edu	37	chr2	166929887	166929887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttcttattgatatagtagGggtccaggtcctccaggggc	12	9	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.chr2:166929887G>T	ENST00000303395.4	-	1	244	c.245C>A	c.(244-246)cCc>cAc	p.P82H	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P82H|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	82					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)	GATATAGTAGGGGTCCAGGTC	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						c.(244-246)cCc>cAc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						122	119	120					2																	166929887		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166929887G>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.245C>A	2.37:g.166929887G>T	ENSP00000303540:p.Pro82His		Somatic				AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|SCN1A_ENST00000303395.4_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA	p.P82H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			1	262	-			82					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.245C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019178	0.75275	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97161	-4.27;-4.27;-4.25;-4.26	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	D	0.99017	0.9664	H	0.96333	3.805	0.49389	D	0.999784	D	0.76494	0.999	D	0.73708	0.981	D	0.99364	1.0918	10	0.87932	D	0	.	18.7532	0.91823	0.0:0.0:1.0:0.0	.	82	P35498-2	.	H	82	ENSP00000407030:P82H;ENSP00000303540:P82H;ENSP00000364554:P82H;ENSP00000386312:P82H	ENSP00000303540:P82H	P	-	2	0	SCN1A	166638133	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.800000	0.85949	2.750000	0.94351	0.655000	0.94253	CCC		0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	295	6	295	---	---	---	---	T	166929887	G	T	166929887	3	4	9	1	0	0	0	0	1	0	0	0	13914	1232	43	1	5888	1	SCN1A	2	166929887	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	27607531	166929887	76269486	148	387										
SCN9A	6335	broad.mit.edu	37	chr2	167142854	167142854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgggtggtacctgattggGggtagacaacctcttttcat	12	7	2	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.chr2:167142854G>T	ENST00000409435.1	-	10	1593	c.1594C>A	c.(1594-1596)Ccc>Acc	p.P532T	SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T|SCN9A_ENST00000375387.4_Missense_Mutation_p.P533T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	532					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)	ACCTGATTGGGGGTAGACAAC	0.443																																						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.(1597-1599)Ccc>Acc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						249	232	238					2																	167142854		1910	4134	6044	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142854G>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.1594C>A	2.37:g.167142854G>T	ENSP00000386330:p.Pro532Thr		Somatic				AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P532T|SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T	p.P533T			WXS	Illumina GAIIx	Phase_I	Q15858	SCN9A_HUMAN			11	1937	-			532					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1597C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907032	0.33628	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.95980	-3.83;-3.86;-3.86;-3.86;-3.83;-3.87	5.25	5.25	0.73442	Domain of unknown function DUF3451 (1);	0.000000	0.31897	N	0.006894	D	0.97161	0.9072	M	0.86573	2.825	0.51482	D	0.999921	B;P;B	0.45634	0.413;0.863;0.07	B;P;B	0.54431	0.217;0.752;0.034	D	0.96173	0.9124	10	0.14252	T	0.57	.	19.1992	0.93704	0.0:0.0:1.0:0.0	.	532;532;533	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	532;533;533;532;397;397	ENSP00000386306:P532T;ENSP00000364536:P533T;ENSP00000304748:P533T;ENSP00000386330:P532T;ENSP00000413212:P397T;ENSP00000393141:P397T	ENSP00000304748:P533T	P	-	1	0	SCN9A	166851100	1.000000	0.71417	0.990000	0.47175	0.147000	0.21601	3.440000	0.52886	2.615000	0.88500	0.585000	0.79938	CCC		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		8	547	8	547	---	---	---	---	T	167142854	G	T	167142854	3	4	9	1	0	0	0	0	1	0	0	0	13925	1232	43	1	4407	1	SCN9A	2	167142854	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	212967	167142854	76056519	149	388										
XIRP2	129446	broad.mit.edu	37	chr2	168099319	168099319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacagcattttcccagtccCctgaactgcccagtcctcct	6	17	0	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.chr2:168099319C>A	ENST00000409195.1	+	9	1506	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	298					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						TTCCCAGTCCCCTGAACTGCC	0.408																																						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.(1417-1419)Cct>Act		xin actin-binding repeat containing 2							82	77	79					2																	168099319		1873	4100	5973	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099319C>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.1417C>A	2.37:g.168099319C>A	ENSP00000386840:p.Pro473Thr		Somatic				XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T	p.P473T	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	1506	+			298					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.1417C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847229	0.71603	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02812	4.15;4.15;4.15	5.59	5.59	0.84812	.	0.181876	0.48767	D	0.000164	T	0.13200	0.0320	L	0.61218	1.895	0.44890	D	0.997903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.995	T	0.00043	-1.2224	10	0.66056	D	0.02	-13.8606	15.1318	0.72530	0.142:0.858:0.0:0.0	.	298;298;251	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	473;473;251	ENSP00000386840:P473T;ENSP00000295237:P473T;ENSP00000387255:P251T	ENSP00000295237:P473T	P	+	1	0	XIRP2	167807565	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.418000	0.44662	2.639000	0.89480	0.655000	0.94253	CCT		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	180	7	180	---	---	---	---	A	168099319	C	A	168099319	3	1	9	1	0	0	0	0	1	0	0	0	17427	623	22	1	1447	1	XIRP2	2	168099319	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	956465	168099319	75100054	150	389										
ABCB11	8647	broad.mit.edu	37	chr2	169847386	169847386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacttcatcagccaccaccCctgctttggcataggccttc	7	16	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.chr2:169847386C>A	ENST00000263817.6	-	9	957	c.833G>T	c.(832-834)gGg>gTg	p.G278V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	278	ABC transmembrane type-1 1. {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)	AGCCACCACCCCTGCTTTGGC	0.398																																						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.(832-834)gGg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						170	169	170					2																	169847386		1898	4117	6015	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.chr2:169847386C>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.833G>T	2.37:g.169847386C>A	ENSP00000263817:p.Gly278Val		Somatic					p.G278V	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			9	957	-			278			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.833G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861822	0.91433	.	.	ENSG00000073734	ENST00000263817	D	0.90563	-2.69	5.53	5.53	0.82687	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	0.96824	0.8963	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97314	0.9939	10	0.87932	D	0	-0.0564	19.8195	0.96586	0.0:1.0:0.0:0.0	.	278	O95342	ABCBB_HUMAN	V	278	ENSP00000263817:G278V	ENSP00000263817:G278V	G	-	2	0	ABCB11	169555632	1.000000	0.71417	0.935000	0.37517	0.952000	0.60782	7.750000	0.85110	2.756000	0.94617	0.655000	0.94253	GGG		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		7	349	7	349	---	---	---	---	A	169847386	C	A	169847386	3	1	9	1	0	0	0	0	1	0	0	0	42	623	22	1	3212	1	ABCB11	2	169847386	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1748067	169847386	73351987	151	390										
MYO3B	140469	broad.mit.edu	37	chr2	171260843	171260843	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacatgttcctccagaaaccCctgggactgcttgcactttt	8	13	0	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.chr2:171260843C>A	ENST00000408978.4	+	20	2507	c.2364C>A	c.(2362-2364)ccC>ccA	p.P788P	MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000334231.6_Silent_p.P797P|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	788	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCCAGAAACCCCTGGGACTGC	0.493																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2389-2391)ccC>ccA		myosin IIIB							100	98	99					2																	171260843		1904	4121	6025	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171260843C>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2364C>A	2.37:g.171260843C>A			Somatic				MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000408978.4_Silent_p.P788P	p.P797P			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			20	2391	+			788			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.2391C>A	CCDS42773.1																																																																																				0.493	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			5	172	5	172	---	---	---	---	A	171260843	C	A	171260843	2	1	9	1	0	0	0	0	0	0	0	1	10077	610	22	1		1	MYO3B	2	171260843	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1413457	171260843	71938530	152	391										
TTN	7273	broad.mit.edu	37	chr2	179395544	179395544	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgttggttttgtctctgtGggtgatacggctttcgggtg	17	5	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.chr2:179395544G>T	ENST00000591111.1	-	308	101099	c.100875C>A	c.(100873-100875)ccC>ccA	p.P33625P	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P26201P|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN_ENST00000589042.1_Silent_p.P35266P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33625					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)			TTGTCTCTGTGGGTGATACGG	0.488																																						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.(105796-105798)ccC>ccA		titin							132	131	131					2																	179395544		1917	4121	6038	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395544G>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.100875C>A	2.37:g.179395544G>T			Somatic				TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000591111.1_Silent_p.P33625P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P35266P	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	106022	-			33625					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.105798C>A																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	110	4	110	---	---	---	---	T	179395544	G	T	179395544	2	4	9	1	0	0	0	0	0	0	0	1	16732	1335	47	1		1	TTN	2	179395544	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8134701	179395544	63803829	153	392										
TTN	7273	broad.mit.edu	37	chr2	179413235	179413235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaccaccgtcaagaagagGggcatcccacatcaatgtag	11	12	2	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.chr2:179413235G>T	ENST00000591111.1	-	289	88419	c.88195C>A	c.(88195-88197)Cct>Act	p.P29399T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000589042.1_Missense_Mutation_p.P31040T|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29399	Fibronectin type-III 114. {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)			TCAAGAAGAGGGGCATCCCAC	0.507																																						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.(93118-93120)Cct>Act		titin							184	182	182					2																	179413235		1962	4161	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413235G>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.88195C>A	2.37:g.179413235G>T	ENSP00000465570:p.Pro29399Thr		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_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-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000591111.1_Missense_Mutation_p.P29399T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P31040T	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93342	-			29399			Fibronectin type-III 126.		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.93118C>A		.	.	.	.	.	.	.	.	.	.	G	15.92	2.975553	0.53720	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	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);	.	.	.	.	D	0.87676	0.6237	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	D	0.91903	0.5533	9	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	21975;22100;22167;29399	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	28472;21975;22167;22100;21972	ENSP00000343764:P28472T;ENSP00000434586:P21975T;ENSP00000340554:P22167T;ENSP00000352154:P22100T	ENSP00000340554:P22167T	P	-	1	0	TTN	179121481	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.750000	0.98875	2.646000	0.89796	0.655000	0.94253	CCT		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	386	7	386	---	---	---	---	T	179413235	G	T	179413235	3	4	9	1	0	0	0	0	1	0	0	0	16732	1232	43	1	14957	1	TTN	2	179413235	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17691	179413235	63786138	154	393										
TTN	7273	broad.mit.edu	37	chr2	179545040	179545040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttttcttctgcgacaaccCtcttgggcttcatgggcact	8	13	4	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.chr2:179545040C>A	ENST00000591111.1	-	137	32632	c.32408G>T	c.(32407-32409)aGg>aTg	p.R10803M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11120M|TTN-AS1_ENST00000589487.1_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)			TGCGACAACCCTCTTGGGCTT	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.(33358-33360)aGg>aTg		titin							193	185	187					2																	179545040		1859	4097	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179545040C>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.32408G>T	2.37:g.179545040C>A	ENSP00000465570:p.Arg10803Met		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA	p.R11120M	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	33583	-			10803			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.33359G>T		.	.	.	.	.	.	.	.	.	.	C	8.707	0.911101	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.70986	-0.53	5.17	1.4	0.22301	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54902	0.1887	N	0.22421	0.69	0.80722	D	1	P	0.34462	0.454	B	0.37833	0.259	T	0.52388	-0.8582	9	0.87932	D	0	.	6.2927	0.21069	0.0:0.4918:0.0:0.5082	.	10803	Q8WZ42	TITIN_HUMAN	M	9876	ENSP00000343764:R9876M	ENSP00000343764:R9876M	R	-	2	0	TTN	179253285	0.046000	0.20272	0.996000	0.52242	0.583000	0.36354	-0.109000	0.10840	0.413000	0.25759	-0.251000	0.11542	AGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	432	8	432	---	---	---	---	A	179545040	C	A	179545040	3	1	9	1	0	0	0	0	1	0	0	0	16732	681	24	1	71066	1	TTN	2	179545040	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	131805	179545040	63654333	155	394										
TTN	7273	broad.mit.edu	37	chr2	179640649	179640649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgggtaattctttcagccCttttcaacttcacaacttct	4	12	5	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.chr2:179640649C>A	ENST00000591111.1	-	28	6166	c.5942G>T	c.(5941-5943)aGg>aTg	p.R1981M	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000589042.1_Missense_Mutation_p.R1981M			Q8WZ42	TITIN_HUMAN	titin	12802					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)			TCTTTCAGCCCTTTTCAACTT	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.(5941-5943)aGg>aTg		titin							140	145	144					2																	179640649		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640649C>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.5942G>T	2.37:g.179640649C>A	ENSP00000465570:p.Arg1981Met		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000591111.1_Missense_Mutation_p.R1981M	p.R1981M	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6166	-			1716					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.5942G>T		.	.	.	.	.	.	.	.	.	.	C	7.431	0.638661	0.14386	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65178	-0.14;0.11;0.1;0.09;0.24	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.63486	0.2515	N	0.19112	0.55	0.28043	N	0.933666	D;D;D;D;D	0.76494	0.976;0.976;0.976;0.976;0.999	P;P;P;P;D	0.65443	0.72;0.72;0.72;0.72;0.935	T	0.57642	-0.7776	9	0.87932	D	0	.	9.328	0.38005	0.0:0.8401:0.0:0.1599	.	1935;1935;1935;1981;1981	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	1981;1935;1935;1935;1935;1981	ENSP00000343764:R1981M;ENSP00000434586:R1935M;ENSP00000340554:R1935M;ENSP00000352154:R1935M;ENSP00000354117:R1981M	ENSP00000340554:R1935M	R	-	2	0	TTN	179348894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.113000	0.50376	2.385000	0.81259	0.609000	0.83330	AGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	492	8	492	---	---	---	---	A	179640649	C	A	179640649	3	1	9	1	0	0	0	0	1	0	0	0	16732	681	24	1	105386	1	TTN	2	179640649	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	95609	179640649	63558724	156	395										
SSFA2	6744	broad.mit.edu	37	chr2	182780991	182780991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgttcccaacatatcagGggctacttgtagtgccttcg	10	11	1	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.chr2:182780991G>T	ENST00000431877.2	+	11	2803	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	875						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AACATATCAGGGGCTACTTGT	0.522																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2623-2625)gGg>gTg		sperm specific antigen 2							141	125	130					2																	182780991		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780991G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2624G>T	2.37:g.182780991G>T	ENSP00000388731:p.Gly875Val		Somatic				SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V	p.G875V	NM_001130445.1	NP_001123917.1	WXS	Illumina GAIIx	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2803	+			875					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2624G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022717	0.54683	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.95	5.02	0.67125	.	0.362633	0.31123	N	0.008201	T	0.74030	0.3663	M	0.73598	2.24	0.52501	D	0.999953	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.997;0.997	D;D;D;D;D	0.63597	0.916;0.916;0.916;0.916;0.916	T	0.75952	-0.3136	10	0.59425	D	0.04	-7.1413	16.661	0.85240	0.0:0.1295:0.8705:0.0	.	722;384;875;875;875	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	V	875;875;875;722;384	ENSP00000388731:G875V;ENSP00000314669:G875V;ENSP00000387319:G875V;ENSP00000409867:G722V;ENSP00000386916:G384V	ENSP00000314669:G875V	G	+	2	0	SSFA2	182489236	0.998000	0.40836	0.371000	0.25978	0.729000	0.41735	3.356000	0.52269	2.824000	0.97209	0.655000	0.94253	GGG		0.522	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		5	181	5	181	---	---	---	---	T	182780991	G	T	182780991	3	4	9	1	0	0	0	0	1	0	0	0	15182	1232	43	1	2666	1	SSFA2	2	182780991	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3140342	182780991	60418382	157	396										
DNAJC10	54431	broad.mit.edu	37	chr2	183593382	183593382	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactgccatgatttagctccCacagtatgtatttttcacat	5	11	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.chr2:183593382C>A	ENST00000264065.7	+	6	913	c.498C>A	c.(496-498)ccC>ccA	p.P166P	DNAJC10_ENST00000537515.1_Silent_p.P166P|DNAJC10_ENST00000469118.1_3'UTR	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	166	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)			ATTTAGCTCCCACAGTATGTA	0.299																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.7																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(496-498)ccC>ccA		DnaJ (Hsp40) homolog, subfamily C, member 10							103	99	100					2																	183593382		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:183593382C>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.498C>A	2.37:g.183593382C>A			Somatic				DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P	p.P166P	NM_018981.1	NP_061854.1	WXS	Illumina GAIIx	Phase_I	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	913	+						Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.498C>A	CCDS33345.1																																																																																				0.299	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		6	238	6	238	---	---	---	---	A	183593382	C	A	183593382	2	1	9	1	0	0	0	0	0	0	0	1	4629	581	21	1		1	DNAJC10	2	183593382	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	812391	183593382	59605991	158	397										
COL3A1	1281	broad.mit.edu	37	chr2	189863408	189863408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaatctcccagggtccaaaGggtgatgccggtgcacctgg	13	13	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.chr2:189863408G>T	ENST00000304636.3	+	29	2156	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	662	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)	AGGGTCCAAAGGGTGATGCCG	0.368																																						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.(1984-1986)aaG>aaT		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						80	79	79					2																	189863408		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.chr2:189863408G>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.1986G>T	2.37:g.189863408G>T	ENSP00000304408:p.Lys662Asn		Somatic				COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	p.K662N	NM_000090.3	NP_000081	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		29	2156	+			662			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.1986G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630615	0.46944	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95447	-3.71;-3.71	5.93	0.418	0.16429	.	0.119152	0.37304	N	0.002142	D	0.94026	0.8086	M	0.64080	1.96	0.46260	D	0.998959	B	0.33266	0.404	B	0.42995	0.404	D	0.89895	0.4040	10	0.52906	T	0.07	.	8.2496	0.31708	0.6762:0.0:0.3238:0.0	.	662	P02461	CO3A1_HUMAN	N	662	ENSP00000304408:K662N;ENSP00000315243:K662N	ENSP00000304408:K662N	K	+	3	2	COL3A1	189571653	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	1.103000	0.31062	0.124000	0.18369	0.655000	0.94253	AAG		0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	88	4	88	---	---	---	---	T	189863408	G	T	189863408	3	4	9	1	0	0	0	0	1	0	0	0	3688	991	35	1	2100	1	COL3A1	2	189863408	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6270026	189863408	53335965	159	398										
HECW2	57520	broad.mit.edu	37	chr2	197184291	197184291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtttcggagaggcaccCatggacctctcagagcaggt	12	12	2	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.chr2:197184291C>A	ENST00000260983.3	-	9	1505	c.1323G>T	c.(1321-1323)atG>atT	p.M441I	HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	441					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)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGAGGCACCCATGGACCTCT	0.502																																						ENST00000260983.3																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1321-1323)atG>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							54	55	55					2																	197184291		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184291C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1323G>T	2.37:g.197184291C>A	ENSP00000260983:p.Met441Ile		Somatic				HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	p.M441I	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			9	1505	-								B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1323G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	5.834	0.338040	0.11013	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.28454	1.61;1.63	5.64	2.68	0.31781	.	1.430510	0.03537	N	0.223275	T	0.17109	0.0411	N	0.08118	0	0.20926	N	0.999824	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.38643	T	0.18	.	3.9807	0.09493	0.2379:0.5008:0.0:0.2613	.	441	Q9P2P5	HECW2_HUMAN	I	85;441	ENSP00000386775:M85I;ENSP00000260983:M441I	ENSP00000260983:M441I	M	-	3	0	HECW2	196892536	0.052000	0.20516	0.796000	0.32109	0.141000	0.21300	-0.052000	0.11865	0.938000	0.37419	0.650000	0.86243	ATG		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		4	94	4	94	---	---	---	---	A	197184291	C	A	197184291	3	1	9	1	0	0	0	0	1	0	0	0	7043	594	21	1	3479	1	HECW2	2	197184291	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7320883	197184291	46015082	160	399										
FAM126B	285172	broad.mit.edu	37	chr2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgacctagccggtcttcctGcagactgacagttgagtatc	10	11	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.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																																						ENST00000418596.3																			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*		Somatic				AC005037.3_ENST00000413848.1_RNA	p.Q493*	NM_173822.3	NP_776183.1	WXS	Illumina GAIIx	Phase_I	Q8IXS8	F126B_HUMAN			12	1664	-								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	33	60	---	---	---	---	A	201846109	G	A	201846109	4	1	9	1	0	0	0	0	0	1	0	0	5430	1328	46	2	119	2	FAM126B	2	201846109	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4661818	201846109	41353264	161	400										
NRP2	8828	broad.mit.edu	37	chr2	206562332	206562332	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcacctctcccggttacccCcaggactacccctcccacca	4	22	2	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.chr2:206562332C>A	ENST00000357785.5	+	2	169	c.138C>A	c.(136-138)ccC>ccA	p.P46P	NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P|NRP2_ENST00000360409.3_Silent_p.P46P|NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P			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						CCGGTTACCCCCAGGACTACC	0.502																																						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.(136-138)ccC>ccA		neuropilin 2							304	292	296					2																	206562332		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.chr2:206562332C>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.138C>A	2.37:g.206562332C>A			Somatic				NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000357785.5_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P	p.P46P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	WXS	Illumina GAIIx	Phase_I	O60462	NRP2_HUMAN			2	929	+			46			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.138C>A	CCDS46496.1																																																																																				0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			10	611	10	611	---	---	---	---	A	206562332	C	A	206562332	2	1	9	1	0	0	0	0	0	0	0	1	10661	610	22	1		1	NRP2	2	206562332	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4716223	206562332	36637041	162	401										
MDH1B	130752	broad.mit.edu	37	chr2	207615682	207615682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaaatcaagtttaaaacaGggcgtgaataatgaagaggt	10	4	1	3	rs546473860		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.chr2:207615682G>T	ENST00000374412.3	-	6	1303	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H|MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	343					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTAAAACAGGGCGTGAATA	0.328																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(1027-1029)cCt>cAt		malate dehydrogenase 1B, NAD (soluble)							91	92	92					2																	207615682		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615682G>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1028C>A	2.37:g.207615682G>T	ENSP00000363533:p.Pro343His		Somatic				MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H	p.P343H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	WXS	Illumina GAIIx	Phase_I	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1303	-			343					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1028C>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492702	0.12702	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.36520	1.25;1.25;1.25	5.97	4.09	0.47781	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.284497	0.39909	N	0.001228	T	0.40815	0.1132	M	0.78285	2.405	0.25750	N	0.985061	B;B	0.33940	0.433;0.372	B;B	0.37387	0.167;0.248	T	0.37337	-0.9710	10	0.44086	T	0.13	-11.654	10.4537	0.44537	0.0659:0.0:0.7015:0.2325	.	343;343	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	H	343;245;343	ENSP00000363533:P343H;ENSP00000416577:P245H;ENSP00000389916:P343H	ENSP00000363533:P343H	P	-	2	0	MDH1B	207323927	0.988000	0.35896	0.097000	0.21041	0.034000	0.12701	1.918000	0.40006	2.836000	0.97738	0.655000	0.94253	CCT		0.328	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		5	169	5	169	---	---	---	---	T	207615682	G	T	207615682	3	4	9	1	0	0	0	0	1	0	0	0	9409	1000	35	1	556	1	MDH1B	2	207615682	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1053350	207615682	35583691	163	402										
PIKFYVE	200576	broad.mit.edu	37	chr2	209192967	209192967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcagcagctcttctgccCagtccagcaatgctcctagt	7	15	4	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.chr2:209192967C>A	ENST00000264380.4	+	21	3840	c.3682C>A	c.(3682-3684)Cag>Aag	p.Q1228K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1228					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						CTCTTCTGCCCAGTCCAGCAA	0.438																																						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.(3682-3684)Cag>Aag		phosphoinositide kinase, FYVE finger containing							220	186	197					2																	209192967		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.chr2:209192967C>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.3682C>A	2.37:g.209192967C>A	ENSP00000264380:p.Gln1228Lys		Somatic					p.Q1228K	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			21	3840	+			1228					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3682C>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418332	0.62622	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.24723	1.84;1.84	5.69	5.69	0.88448	.	0.061193	0.64402	D	0.000002	T	0.37348	0.1000	L	0.37630	1.12	0.80722	D	1	D;P	0.54964	0.969;0.865	D;P	0.64877	0.93;0.824	T	0.02736	-1.1117	10	0.05620	T	0.96	-7.5209	19.8155	0.96566	0.0:1.0:0.0:0.0	.	1228;1172	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	K	1228;804;1172	ENSP00000264380:Q1228K;ENSP00000405736:Q1172K	ENSP00000264380:Q1228K	Q	+	1	0	PIKFYVE	208901212	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.682000	0.91365	0.650000	0.86243	CAG		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	285	5	285	---	---	---	---	A	209192967	C	A	209192967	3	1	9	1	0	0	0	0	1	0	0	0	11924	595	21	1	3771	1	PIKFYVE	2	209192967	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1577285	209192967	34006406	164	403										
MAP2	4133	broad.mit.edu	37	chr2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaggatcaaggcggagcagGggaaggacttgtccgaagcg	17	7	1	0	rs188840497	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.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	38					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)	p.G38V(3)|p.G38E(1)		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)	GGCGGAGCAGGGGAAGGACTT	0.532																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			4	Substitution - Missense(4)	p.G38V(3)|p.G38E(1)	lung(2)|large_intestine(1)|central_nervous_system(1)	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.(112-114)gGg>gTg		microtubule-associated protein 2	Estramustine(DB01196)						115	86	96					2																	210518007		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.chr2:210518007G>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.113G>T	2.37:g.210518007G>T	ENSP00000353508:p.Gly38Val		Somatic				MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V	p.G38V	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	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)	4	619	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	38					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.113G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737959	0.69304	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000018	T	0.32852	0.0843	L	0.27053	0.805	0.80722	D	1	D;P;D;P;D;P	0.89917	1.0;0.933;1.0;0.761;1.0;0.826	D;P;D;B;D;B	0.97110	1.0;0.732;0.983;0.346;1.0;0.292	T	0.10132	-1.0643	10	0.66056	D	0.02	-9.0334	13.2714	0.60164	0.076:0.0:0.924:0.0	.	38;38;39;38;38;38	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	V	38	ENSP00000199940:G38V;ENSP00000376031:G38V;ENSP00000353508:G38V;ENSP00000355290:G38V;ENSP00000409969:G38V;ENSP00000376032:G38V;ENSP00000392164:G38V	ENSP00000199940:G38V	G	+	2	0	MAP2	210226252	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.744000	0.74854	1.312000	0.45043	-0.136000	0.14681	GGG		0.532	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		4	81	4	81	---	---	---	---	T	210518007	G	T	210518007	3	4	9	1	0	0	0	0	1	0	0	0	9235	1232	43	1	115	1	MAP2	2	210518007	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1325040	210518007	32681366	165	404										
RPE	6120	broad.mit.edu	37	chr2	210881324	210881324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttatgacagtggaaccgGggtttggagggcagaaattc	16	5	0	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.chr2:210881324G>T	ENST00000359429.6	+	4	533	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	146	Substrate binding.				carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGTGGAACCGGGGTTTGGAGG	0.438																																						ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(436-438)Ggg>Tgg		ribulose-5-phosphate-3-epimerase							132	129	130					2																	210881324		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210881324G>T		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.436G>T	2.37:g.210881324G>T	ENSP00000352401:p.Gly146Trp		Somatic				RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W	p.G146W	NM_199229.1	NP_954699.1	WXS	Illumina GAIIx	Phase_I	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	4	533	+			146			Substrate binding.		A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.436G>T	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929717	0.92389	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.45	5.45	0.79879	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.93808	3.46	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	0.89930	0.4065	9	0.87932	D	0	-3.1604	19.2659	0.93985	0.0:0.0:1.0:0.0	.	146;138;146;146	B4E016;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	W	146;96;78;96;96;146;96;78;78;78;146;78;78;146;138	.	ENSP00000346501:G138W	G	+	1	0	RPE	210589569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.725000	0.93324	0.655000	0.94253	GGG		0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		6	278	6	278	---	---	---	---	T	210881324	G	T	210881324	3	4	9	1	0	0	0	0	1	0	0	0	13544	1232	43	1	508	1	RPE	2	210881324	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	363317	210881324	32318049	166	405										
PECR	55825	broad.mit.edu	37	chr2	216914052	216914052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttcaaagaagctttgtccCcaggaaccatagttctccac	6	14	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.chr2:216914052C>A	ENST00000265322.7	-	6	722	c.648G>T	c.(646-648)tgG>tgT	p.W216C	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	216					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)	AGCTTTGTCCCCAGGAACCAT	0.358																																						ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(646-648)tgG>tgT		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						109	117	115					2																	216914052		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216914052C>A	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.648G>T	2.37:g.216914052C>A	ENSP00000265322:p.Trp216Cys		Somatic				PECR_ENST00000497889.1_5'UTR	p.W216C	NM_018441.5	NP_060911.2	WXS	Illumina GAIIx	Phase_I	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)	6	722	-		Renal(323;0.0327)	216					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.648G>T	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	6.313	0.425892	0.11987	.	.	ENSG00000115425	ENST00000265322	D	0.87966	-2.32	5.73	-4.9	0.03094	NAD(P)-binding domain (1);	1.940430	0.02082	N	0.052407	T	0.73442	0.3587	N	0.12182	0.205	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.12156	0.007;0.003	T	0.61302	-0.7090	10	0.39692	T	0.17	.	5.4033	0.16308	0.487:0.3243:0.1186:0.0701	.	216;70	Q9BY49;Q9BY49-2	PECR_HUMAN;.	C	216	ENSP00000265322:W216C	ENSP00000265322:W216C	W	-	3	0	PECR	216622297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.646000	0.01998	-0.521000	0.06426	-2.998000	0.00077	TGG		0.358	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		6	318	6	318	---	---	---	---	A	216914052	C	A	216914052	3	1	9	1	0	0	0	0	1	0	0	0	11717	624	22	1	275	1	PECR	2	216914052	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6032728	216914052	26285321	167	406										
ZNF142	7701	broad.mit.edu	37	chr2	219508775	219508775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactaccatctgcacccgccCctctagcaccaatgcctctg	5	20	3	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.chr2:219508775C>A	ENST00000449707.1	-	8	2885	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	ZNF142_ENST00000411696.2_Missense_Mutation_p.G822W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	822					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)		TGCACCCGCCCCTCTAGCACC	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.(2464-2466)Ggg>Tgg		zinc finger protein 142							195	208	204					2																	219508775		2096	4229	6325	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508775C>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.2464G>T	2.37:g.219508775C>A	ENSP00000408643:p.Gly822Trp		Somatic				ZNF142_ENST00000449707.1_Missense_Mutation_p.G822W	p.G822W			WXS	Illumina GAIIx	Phase_I	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	3243	-		Renal(207;0.0474)	822					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2464G>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460393	0.84317	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.19394	2.15;2.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11842	-1.0571	10	0.62326	D	0.03	-16.7471	18.9765	0.92738	0.0:1.0:0.0:0.0	.	822;659	P52746;A8MWU9	ZN142_HUMAN;.	W	822	ENSP00000408643:G822W;ENSP00000398798:G822W	ENSP00000398798:G822W	G	-	1	0	ZNF142	219217019	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.617000	0.83032	2.720000	0.93068	0.655000	0.94253	GGG		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	300	7	300	---	---	---	---	A	219508775	C	A	219508775	3	1	9	1	0	0	0	0	1	0	0	0	17728	623	22	1	2611	1	ZNF142	2	219508775	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2594723	219508775	23690598	168	407										
ZNF142	7701	broad.mit.edu	37	chr2	219508853	219508853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgactctgactcaggtaatgGgggcaagggtgctgtctcag	15	8	3	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.chr2:219508853G>T	ENST00000449707.1	-	8	2807	c.2386C>A	c.(2386-2388)Cca>Aca	p.P796T	ZNF142_ENST00000411696.2_Missense_Mutation_p.P796T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	796					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)		TCAGGTAATGGGGGCAAGGGT	0.532																																					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.(2386-2388)Cca>Aca		zinc finger protein 142							167	172	170					2																	219508853		2077	4225	6302	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508853G>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.2386C>A	2.37:g.219508853G>T	ENSP00000408643:p.Pro796Thr		Somatic				ZNF142_ENST00000449707.1_Missense_Mutation_p.P796T	p.P796T			WXS	Illumina GAIIx	Phase_I	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	3165	-		Renal(207;0.0474)	796					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2386C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	4.092	0.015076	0.07959	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.10573	2.86;2.86	5.07	5.07	0.68467	.	0.782790	0.11781	N	0.530168	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B;B	0.27559	0.181;0.039	B;B	0.24155	0.051;0.023	T	0.31392	-0.9945	10	0.14656	T	0.56	-16.473	11.2072	0.48775	0.0:0.0:0.7674:0.2326	.	796;633	P52746;A8MWU9	ZN142_HUMAN;.	T	796	ENSP00000408643:P796T;ENSP00000398798:P796T	ENSP00000398798:P796T	P	-	1	0	ZNF142	219217097	0.993000	0.37304	0.244000	0.24202	0.714000	0.41099	4.022000	0.57203	2.644000	0.89710	0.655000	0.94253	CCA		0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	310	7	310	---	---	---	---	T	219508853	G	T	219508853	3	4	9	1	0	0	0	0	1	0	0	0	17728	1232	43	1	2689	1	ZNF142	2	219508853	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	78	219508853	23690520	169	408										
TTLL4	9654	broad.mit.edu	37	chr2	219617870	219617870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccggagttggtgctacaaaGggttccacatgggagttgtc	14	8	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.chr2:219617870G>T	ENST00000392102.1	+	18	3560	c.3220G>T	c.(3220-3222)Ggg>Tgg	p.G1074W	TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W|TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1074					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)		GTGCTACAAAGGGTTCCACAT	0.517																																					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.(3220-3222)Ggg>Tgg		tubulin tyrosine ligase-like family, member 4							249	238	241					2																	219617870		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219617870G>T		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.3220G>T	2.37:g.219617870G>T	ENSP00000375951:p.Gly1074Trp		Somatic				TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W	p.G1074W	NM_014640.4	NP_055455.3	WXS	Illumina GAIIx	Phase_I	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)	18	3560	+		Renal(207;0.0915)	1074					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.3220G>T	CCDS2422.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.06|19.06|19.06	3.753798|3.753798|3.753798	0.69648|0.69648|0.69648	.|.|.	.|.|.	ENSG00000135912|ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000417855|ENST00000436668	T;T;T;T|.|.	0.04454|.|.	3.73;3.96;3.62;3.96|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	.|.|.	0.702602|.|.	0.14594|.|.	N|.|.	0.310080|.|.	T|T|T	0.75236|0.75236|0.75236	0.3822|0.3822|0.3822	M|M|M	0.76002|0.76002|0.76002	2.32|2.32|2.32	0.43814|0.43814|0.43814	D|D|D	0.996374|0.996374|0.996374	D;D;D|.|.	0.89917|.|.	1.0;1.0;0.999|.|.	D;D;D|.|.	0.87578|.|.	0.997;0.998;0.996|.|.	T|T|T	0.75130|0.75130|0.75130	-0.3426|-0.3426|-0.3426	10|6|5	0.87932|0.72032|.	D|D|.	0|0.01|.	.|.|.	15.9951|15.9951|15.9951	0.80234|0.80234|0.80234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	909;1010;1074|.|.	E9PH58;E7EX20;Q14679|.|.	.;.;TTLL4_HUMAN|.|.	W|N|M	909;1074;1010;1074|97|176	ENSP00000393332:G909W;ENSP00000375951:G1074W;ENSP00000396555:G1010W;ENSP00000258398:G1074W|.|.	ENSP00000258398:G1074W|ENSP00000400068:K97N|.	G|K|R	+|+|+	1|3|2	0|2|0	TTLL4|TTLL4|TTLL4	219326114|219326114|219326114	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	3.654000|3.654000|3.654000	0.54453|0.54453|0.54453	2.683000|2.683000|2.683000	0.91414|0.91414|0.91414	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|AAG|AGG		0.517	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		8	556	8	556	---	---	---	---	T	219617870	G	T	219617870	3	4	9	1	0	0	0	0	1	0	0	0	16726	1000	35	1	3282	1	TTLL4	2	219617870	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	109017	219617870	23581503	170	409										
FAM134A	79137	broad.mit.edu	37	chr2	220047109	220047109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagtgacccagccccctccCcttccattctcccacctgtt	5	20	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.chr2:220047109C>A	ENST00000430297.2	+	9	1526	c.1390C>A	c.(1390-1392)Cct>Act	p.P464T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	464						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)		AGCCCCCTCCCCTTCCATTCT	0.617																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(1390-1392)Cct>Act		family with sequence similarity 134, member A							93	94	94					2																	220047109		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047109C>A	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.1390C>A	2.37:g.220047109C>A	ENSP00000395249:p.Pro464Thr		Somatic					p.P464T	NM_024293.4	NP_077269.3	WXS	Illumina GAIIx	Phase_I	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)	9	1526	+		Renal(207;0.0915)	464					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1390C>A	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036463	0.08148	.	.	ENSG00000144567	ENST00000430297	T	0.29917	1.55	5.13	2.34	0.29019	.	0.473420	0.16282	N	0.221292	T	0.25158	0.0611	L	0.50333	1.59	0.36409	D	0.863587	B	0.15141	0.012	B	0.16289	0.015	T	0.13335	-1.0513	9	.	.	.	-6.5456	8.6561	0.34064	0.0:0.704:0.0:0.296	.	464	Q8NC44	F134A_HUMAN	T	464	ENSP00000395249:P464T	.	P	+	1	0	FAM134A	219755353	0.113000	0.22115	0.168000	0.22838	0.209000	0.24338	0.125000	0.15749	0.761000	0.33130	-0.253000	0.11424	CCT		0.617	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		6	138	6	138	---	---	---	---	A	220047109	C	A	220047109	3	1	9	1	0	0	0	0	1	0	0	0	5445	623	22	1	1424	1	FAM134A	2	220047109	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	429239	220047109	23152264	171	410										
EPHA4	2043	broad.mit.edu	37	chr2	222428928	222428928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacgtctccttgcaagtccCcatgacgcccggaagactat	8	14	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.chr2:222428928C>A	ENST00000281821.2	-	3	387	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	116	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)		TTGCAAGTCCCCATGACGCCC	0.463																																						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.(346-348)Ggg>Tgg		EPH receptor A4							135	129	131					2																	222428928		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428928C>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.346G>T	2.37:g.222428928C>A	ENSP00000281821:p.Gly116Trp		Somatic				EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W	p.G116W	NM_004438.3	NP_004429.1	WXS	Illumina GAIIx	Phase_I	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)	3	387	-		Renal(207;0.0183)	116					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.346G>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302007	0.40694	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73	6.17	5.29	0.74685	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.094910	0.64402	D	0.000001	T	0.31451	0.0797	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46373	-0.9196	10	0.87932	D	0	.	17.7453	0.88419	0.0:0.8777:0.1223:0.0	.	116	P54764	EPHA4_HUMAN	W	116;116;116;65;57;116	ENSP00000281821:G116W;ENSP00000386276:G116W;ENSP00000386829:G116W;ENSP00000375923:G65W;ENSP00000410158:G57W;ENSP00000444085:G116W	ENSP00000281821:G116W	G	-	1	0	EPHA4	222137172	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	5.920000	0.70017	1.616000	0.50265	-0.165000	0.13383	GGG		0.463	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			6	358	6	358	---	---	---	---	A	222428928	C	A	222428928	3	1	9	1	0	0	0	0	1	0	0	0	5169	623	22	1	2674	1	EPHA4	2	222428928	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2381819	222428928	20770445	172	411										
MFF	56947	broad.mit.edu	37	chr2	228197205	228197205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtcaactccctttaaaccCctggcactgaaaacaccacc	4	17	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.chr2:228197205C>A	ENST00000353339.3	+	5	771	c.330C>A	c.(328-330)ccC>ccA	p.P110P	MFF_ENST00000524634.1_De_novo_Start_InFrame|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000409565.1_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110					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						CCTTTAAACCCCTGGCACTGA	0.398																																						ENST00000524634.1																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21								mitochondrial fission factor							232	226	228					2																	228197205		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197205C>A	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.330C>A	2.37:g.228197205C>A			Somatic				MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000353339.3_Silent_p.P110P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P				WXS	Illumina GAIIx	Phase_I	Q9GZY8	MFF_HUMAN			0	228	+								Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Translation_Start_Site	SNP	ENST00000353339.3	37		CCDS2465.1																																																																																				0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		12	844	12	844	---	---	---	---	A	228197205	C	A	228197205	2	1	9	1	0	0	0	0	0	0	0	1	9519	610	22	1		1	MFF	2	228197205	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5768277	228197205	15002168	173	412										
GIGYF2	26058	broad.mit.edu	37	chr2	233671322	233671322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcgatatcatgaaaatgtgGggaagggttcccttttctcc	12	8	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.chr2:233671322G>T	ENST00000409547.1	+	17	2072	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C|GIGYF2_ENST00000373566.3_Missense_Mutation_p.W609C	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	587					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)		TGAAAATGTGGGGAAGGGTTC	0.458																																						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.(1825-1827)tgG>tgT		GRB10 interacting GYF protein 2							153	149	150					2																	233671322		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671322G>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.1761G>T	2.37:g.233671322G>T	ENSP00000386537:p.Trp587Cys		Somatic				GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.W587C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C	p.W609C			WXS	Illumina GAIIx	Phase_I	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	2024	+		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)	587			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1827G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200083	0.79015	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75260	-0.77;-0.77;-0.77;-0.77;-0.92;-0.78;-0.77;-0.9;-0.63	5.71	5.71	0.89125	GYF (3);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	L	0.48986	1.54	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;0.997	T	0.78981	-0.1989	10	0.26408	T	0.33	-8.5335	19.8706	0.96849	0.0:0.0:1.0:0.0	.	418;608;587;581	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	C	609;530;587;609;587;587;530;581;608;581;418	ENSP00000362667:W609C;ENSP00000362664:W587C;ENSP00000386765:W609C;ENSP00000386537:W587C;ENSP00000404195:W530C;ENSP00000387070:W581C;ENSP00000387170:W608C;ENSP00000410297:W581C;ENSP00000411505:W418C	ENSP00000362664:W587C	W	+	3	0	GIGYF2	233379566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.691000	0.91804	0.563000	0.77884	TGG		0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		6	352	6	352	---	---	---	---	T	233671322	G	T	233671322	3	4	9	1	0	0	0	0	1	0	0	0	6378	1241	43	1	1881	1	GIGYF2	2	233671322	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5474117	233671322	9528051	174	413										
UGT1A8	54658	broad.mit.edu	37	chr2	234526904	234526904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagaaggtgcacagtgccCtgctcctctttcctatgtcc	9	13	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.chr2:234526904C>A	ENST00000373450.4	+	1	614	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	187					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)	GCACAGTGCCCTGCTCCTCTT	0.493																																						ENST00000373450.4																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(550-552)cCt>cAt			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						161	167	165					2																	234526904		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234526904C>A	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.551C>A	2.37:g.234526904C>A	ENSP00000362549:p.Pro184His		Somatic					p.P184H	NM_019076.4	NP_061949.3	WXS	Illumina GAIIx	Phase_I	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	614	+		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)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.551C>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635587	0.29068	.	.	ENSG00000242366	ENST00000373450	T	0.65364	-0.15	3.96	3.08	0.35506	.	.	.	.	.	T	0.81403	0.4815	M	0.93978	3.48	0.38368	D	0.944787	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83948	0.0315	9	0.72032	D	0.01	.	8.3583	0.32344	0.0:0.8175:0.0:0.1825	.	184;184	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	H	184	ENSP00000362549:P184H	ENSP00000362549:P184H	P	+	2	0	UGT1A8	234191643	1.000000	0.71417	0.020000	0.16555	0.015000	0.08874	4.690000	0.61731	1.025000	0.39708	0.505000	0.49811	CCT		0.493	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			7	425	7	425	---	---	---	---	A	234526904	C	A	234526904	3	1	9	1	0	0	0	0	1	0	0	0	16948	681	24	1	553	1	UGT1A8	2	234526904	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	855582	234526904	8672469	175	414										
UGT1A3	54659	broad.mit.edu	37	chr2	234638401	234638401	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacatgacattcatgcaaaGggtcaagaacatgctctacc	7	12	3	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.chr2:234638401G>T	ENST00000482026.1	+	1	648	c.629G>T	c.(628-630)aGg>aTg	p.R210M	UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	210					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		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;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TTCATGCAAAGGGTCAAGAAC	0.453																																						ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(628-630)aGg>aTg									244	229	234					2																	234638401		2203	4300	6503	SO:0001583	missense	54659							g.chr2:234638401G>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.629G>T	2.37:g.234638401G>T	ENSP00000418532:p.Arg210Met		Somatic				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron	p.R210M			WXS	Illumina GAIIx	Phase_I				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	648	+		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)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.629G>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.186460	0.78789	.	.	ENSG00000243135	ENST00000482026	T	0.72835	-0.69	4.2	4.2	0.49525	.	.	.	.	.	D	0.89354	0.6691	H	0.96777	3.88	0.48288	D	0.999628	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93456	0.6806	9	0.87932	D	0	.	16.5174	0.84304	0.0:0.0:1.0:0.0	.	210;210	Q5DT01;P35503	.;UD13_HUMAN	M	210	ENSP00000418532:R210M	ENSP00000418532:R210M	R	+	2	0	UGT1A3	234303140	0.999000	0.42202	0.980000	0.43619	0.874000	0.50279	7.973000	0.88032	1.880000	0.54463	0.585000	0.79938	AGG		0.453	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		8	439	8	439	---	---	---	---	T	234638401	G	T	234638401	3	4	9	1	0	0	0	0	1	0	0	0	16943	1000	35	1	631	1	UGT1A3	2	234638401	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	111497	234638401	8560972	176	415										
COL6A3	1293	broad.mit.edu	37	chr2	238274414	238274414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcctccgtgaggacgtagGggtgctggctgcgcatgttc	16	10	0	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.chr2:238274414G>T	ENST00000295550.4	-	12	6217	c.5765C>A	c.(5764-5766)cCc>cAc	p.P1922H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1922	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)		GAGGACGTAGGGGTGCTGGCT	0.612																																						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.(5764-5766)cCc>cAc		collagen, type VI, alpha 3							81	77	78					2																	238274414		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.chr2:238274414G>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.5765C>A	2.37:g.238274414G>T	ENSP00000295550:p.Pro1922His		Somatic				COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H	p.P1922H	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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	6217	-		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)	1922			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5765C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600641	0.46423	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.116963	0.38492	N	0.001669	T	0.63462	0.2513	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.987;0.994;0.915	T	0.64681	-0.6350	10	0.52906	T	0.07	.	19.4237	0.94732	0.0:0.0:1.0:0.0	.	1315;1716;1922	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1922;1721;1716;1315;1716;1722	ENSP00000295550:P1922H;ENSP00000315609:P1721H;ENSP00000315873:P1716H;ENSP00000418285:P1315H;ENSP00000386844:P1716H;ENSP00000295546:P1722H	ENSP00000295550:P1922H	P	-	2	0	COL6A3	237939153	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.368000	0.79567	2.665000	0.90641	0.655000	0.94253	CCC		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	126	6	126	---	---	---	---	T	238274414	G	T	238274414	3	4	9	1	0	0	0	0	1	0	0	0	3701	1232	43	1	3900	1	COL6A3	2	238274414	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3636013	238274414	4924959	177	416										
COL6A3	1293	broad.mit.edu	37	chr2	238275770	238275770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggaagaattcgtcagtgGggtcagagttgtactggaca	14	6	3	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.chr2:238275770G>T	ENST00000295550.4	-	11	5512	c.5060C>A	c.(5059-5061)cCc>cAc	p.P1687H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1687	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.		P -> S (in dbSNP:rs35273032). {ECO:0000269|PubMed:15689448}.		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)		TTCGTCAGTGGGGTCAGAGTT	0.473																																						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.(5059-5061)cCc>cAc		collagen, type VI, alpha 3							78	68	71					2																	238275770		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.chr2:238275770G>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.5060C>A	2.37:g.238275770G>T	ENSP00000295550:p.Pro1687His		Somatic				COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H	p.P1687H	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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	5512	-		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)	1687		P -> S (in dbSNP:rs35273032).	Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5060C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286096	0.40394	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.248060	0.28742	N	0.014292	D	0.88130	0.6354	M	0.86651	2.83	0.33009	D	0.527278	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.947	D	0.87490	0.2426	10	0.18276	T	0.48	.	7.1876	0.25809	0.2066:0.0:0.7934:0.0	.	1080;1481;1687	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1687;1486;1481;1080;1481;1487	ENSP00000295550:P1687H;ENSP00000315609:P1486H;ENSP00000315873:P1481H;ENSP00000418285:P1080H;ENSP00000386844:P1481H;ENSP00000295546:P1487H	ENSP00000295550:P1687H	P	-	2	0	COL6A3	237940509	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.555000	0.60767	2.573000	0.86826	0.655000	0.94253	CCC		0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	65	4	65	---	---	---	---	T	238275770	G	T	238275770	3	4	9	1	0	0	0	0	1	0	0	0	3701	1232	43	1	4609	1	COL6A3	2	238275770	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1356	238275770	4923603	178	417										
RAB17	64284	broad.mit.edu	37	chr2	238494758	238494758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacacacggggctggctggGggcagccctgggctgggggg	22	10	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.chr2:238494758G>T	ENST00000264601.3	-	2	669	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	14					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)		GGCTGGCTGGGGGCAGCCCTG	0.582																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.(40-42)Ccc>Acc		RAB17, member RAS oncogene family							44	49	47					2																	238494758		2203	4300	6503	SO:0001583	missense	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238494758G>T	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.40C>A	2.37:g.238494758G>T	ENSP00000264601:p.Pro14Thr		Somatic				RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR	p.P14T	NM_022449.3	NP_071894.1	WXS	Illumina GAIIx	Phase_I	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	669	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	14					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	c.40C>A	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807233	0.16467	.	.	ENSG00000124839	ENST00000264601;ENST00000411462	T;T	0.63255	-0.03;0.35	4.69	-4.35	0.03656	.	1.393840	0.04991	N	0.467342	T	0.37758	0.1015	N	0.17379	0.485	0.09310	N	0.999998	B	0.22003	0.063	B	0.19666	0.026	T	0.10941	-1.0608	10	0.25751	T	0.34	-13.999	1.9845	0.03433	0.312:0.3204:0.258:0.1096	.	14	Q9H0T7	RAB17_HUMAN	T	14	ENSP00000264601:P14T;ENSP00000400240:P14T	ENSP00000264601:P14T	P	-	1	0	RAB17	238159497	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.190000	0.17057	-0.536000	0.06298	-0.229000	0.12294	CCC		0.582	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			4	82	4	82	---	---	---	---	T	238494758	G	T	238494758	3	4	9	1	0	0	0	0	1	0	0	0	12902	1232	43	1	618	1	RAB17	2	238494758	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	218988	238494758	4704615	179	418										
MTERFD2	130916	broad.mit.edu	37	chr2	242035730	242035730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctgccccttcttatcagGggtttggtaccgtcccaggc	11	13	3	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.chr2:242035730G>T	ENST00000391980.2	-	4	887	c.829C>A	c.(829-831)Cct>Act	p.P277T	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		277					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)		TTCTTATCAGGGGTTTGGTAC	0.468																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(829-831)Cct>Act		MTERF domain containing 2							137	134	135					2																	242035730		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035730G>T																												ENST00000391980.2:c.829C>A	2.37:g.242035730G>T	ENSP00000375840:p.Pro277Thr		Somatic				MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	p.P277T	NM_182501.3	NP_872307.2	WXS	Illumina GAIIx	Phase_I	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)	4	887	-		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)	277					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.829C>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029667	0.54790	.	.	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.35048	2.42;2.31;1.33	5.57	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.59609	0.2206	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60100	-0.7329	10	0.33141	T	0.24	14.2271	14.0599	0.64793	0.0733:0.0:0.9267:0.0	.	277	Q7Z6M4	MTER2_HUMAN	T	277;89;130	ENSP00000375840:P277T;ENSP00000384998:P89T;ENSP00000414989:P130T	ENSP00000241527:P277T	P	-	1	0	MTERFD2	241684403	1.000000	0.71417	0.686000	0.30086	0.251000	0.25915	9.226000	0.95229	1.370000	0.46153	0.491000	0.48974	CCT		0.468	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			6	319	6	319	---	---	---	---	T	242035730	G	T	242035730	3	4	9	1	0	0	0	0	1	0	0	0	9920	1232	43	1	320	1	MTERFD2	2	242035730	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3540972	242035730	1163643	180	419										
CHL1	10752	broad.mit.edu	37	chr3	367694	367694	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagtccaagttgcctttccCttcgatgagtattttcaaat	6	9	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.chr3:367694C>A	ENST00000256509.2	+	4	786	c.144C>A	c.(142-144)ccC>ccA	p.P48P	CHL1_ENST00000397491.2_Silent_p.P48P	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	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)			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)		TTGCCTTTCCCTTCGATGAGT	0.348																																						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.(142-144)ccC>ccA		cell adhesion molecule L1-like							89	90	90					3																	367694		2202	4300	6502	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367694C>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.144C>A	3.37:g.367694C>A			Somatic				CHL1_ENST00000397491.2_Silent_p.P48P	p.P48P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	WXS	Illumina GAIIx	Phase_I	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)	4	786	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	48			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.144C>A	CCDS2556.1																																																																																				0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		5	140	5	140	---	---	---	---	A	367694	C	A	367694	2	1	9	1	0	0	0	0	0	0	0	1	3349	668	24	1		1	CHL1	3	367694	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		367694	197654736	181	420										
CNTN6	27255	broad.mit.edu	37	chr3	1424996	1424996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacctcaactggccccaagGggaacttctctccagagttt	9	13	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.chr3:1424996G>T	ENST00000446702.2	+	19	3048	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S|CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S			Q9UQ52	CNTN6_HUMAN	contactin 6	807	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)				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)		TGGCCCCAAGGGGAACTTCTC	0.438																																						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.(2419-2421)agG>agT		contactin 6							191	199	196					3																	1424996		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424996G>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.2421G>T	3.37:g.1424996G>T	ENSP00000407822:p.Arg807Ser		Somatic				CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S	p.R807S			WXS	Illumina GAIIx	Phase_I	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3048	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	807			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2421G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	0.297	-0.976432	0.02215	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56776	0.44;0.44;0.44	5.58	-3.6	0.04570	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.784111	0.11214	N	0.587419	T	0.15739	0.0379	N	0.00648	-1.295	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.37709	-0.9694	10	0.10636	T	0.68	.	9.015	0.36164	0.6217:0.0:0.248:0.1304	.	807	Q9UQ52	CNTN6_HUMAN	S	807;735;807	ENSP00000407822:R807S;ENSP00000442791:R735S;ENSP00000341882:R807S	ENSP00000341882:R807S	R	+	3	2	CNTN6	1399996	0.000000	0.05858	0.010000	0.14722	0.275000	0.26752	-0.837000	0.04377	-0.419000	0.07439	-0.229000	0.12294	AGG		0.438	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		8	448	8	448	---	---	---	---	T	1424996	G	T	1424996	3	4	9	1	0	0	0	0	1	0	0	0	3645	1223	43	1	2491	1	CNTN6	3	1424996	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1057302	1424996	196597434	182	421										
SLC6A11	6538	broad.mit.edu	37	chr3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcctccatgctctgcatccCgctctggatctgcatcacag	8	16	4	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.chr3:10976836C>A	ENST00000254488.2	+	13	1763	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					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.P566Q(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)	CTCTGCATCCCGCTCTGGATC	0.602																																						ENST00000254488.2																			1	Substitution - Missense(1)	p.P566Q(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1696-1698)cCg>cAg		solute carrier family 6 (neurotransmitter transporter), member 11							167	148	155					3																	10976836		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976836C>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.1697C>A	3.37:g.10976836C>A	ENSP00000254488:p.Pro566Gln		Somatic					p.P566Q	NM_014229.1	NP_055044.1	WXS	Illumina GAIIx	Phase_I	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1763	+			566					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1697C>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685445	0.88639	.	.	ENSG00000132164	ENST00000254488	T	0.80738	-1.41	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97183	0.9852	10	0.87932	D	0	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	566	P48066	S6A11_HUMAN	Q	566	ENSP00000254488:P566Q	ENSP00000254488:P566Q	P	+	2	0	SLC6A11	10951836	1.000000	0.71417	0.954000	0.39281	0.966000	0.64601	7.488000	0.81441	2.348000	0.79779	0.655000	0.94253	CCG		0.602	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		6	192	6	192	---	---	---	---	A	10976836	C	A	10976836	3	1	9	1	0	0	0	0	1	0	0	0	14674	652	23	1	1747	1	SLC6A11	3	10976836	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9551840	10976836	187045594	183	422										
HDAC11	79885	broad.mit.edu	37	chr3	13538270	13538270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctaccatcacagaaatccCccccgttatcttcctcccca	3	19	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.chr3:13538270C>A	ENST00000295757.3	+	4	470	c.287C>A	c.(286-288)cCc>cAc	p.P96H	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000446613.2_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	96	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)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ACAGAAATCCCCCCCGTTATC	0.587											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(286-288)cCc>cAc		histone deacetylase 11							94	91	92					3																	13538270		2203	4300	6503	SO:0001583	missense	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.chr3:13538270C>A	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.287C>A	3.37:g.13538270C>A	ENSP00000295757:p.Pro96His		Somatic	OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron	p.P96H	NM_024827.3	NP_079103.2	WXS	Illumina GAIIx	Phase_I	Q96DB2	HDA11_HUMAN			4	470	+			96			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.287C>A	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.945694	0.73672	.	.	ENSG00000163517	ENST00000433119;ENST00000295757;ENST00000458642;ENST00000405478;ENST00000416248;ENST00000455904;ENST00000437379	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.98	4.09	0.47781	Histone deacetylase domain (2);	0.190889	0.45867	D	0.000338	D	0.82683	0.5090	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;D	0.87578	0.998;0.967;0.976	D	0.85511	0.1197	10	0.87932	D	0	-8.6173	11.5062	0.50468	0.0:0.9093:0.0:0.0907	.	68;68;96	Q658J9;B5MCV5;Q96DB2	.;.;HDA11_HUMAN	H	68;96;96;68;68;68;68	ENSP00000295757:P96H;ENSP00000405403:P96H;ENSP00000385252:P68H;ENSP00000396122:P68H;ENSP00000395188:P68H	ENSP00000295757:P96H	P	+	2	0	HDAC11	13513270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.181000	0.65054	2.334000	0.79466	0.550000	0.68814	CCC		0.587	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		4	88	4	88	---	---	---	---	A	13538270	C	A	13538270	3	1	9	1	0	0	0	0	1	0	0	0	7006	623	22	1	301	1	HDAC11	3	13538270	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2561434	13538270	184484160	184	423										
ZFYVE20	64145	broad.mit.edu	37	chr3	15131941	15131941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacatgtaaggatcaaccCctccatagctgaaagactca	6	14	2	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.chr3:15131941C>A	ENST00000253699.3	-	5	867	c.254G>T	c.(253-255)gGg>gTg	p.G85V	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	85					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						AGGATCAACCCCTCCATAGCT	0.443																																						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.(253-255)gGg>gTg		zinc finger, FYVE domain containing 20							178	161	167					3																	15131941		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15131941C>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.254G>T	3.37:g.15131941C>A	ENSP00000253699:p.Gly85Val		Somatic				ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	p.G85V	NM_022340.2	NP_071735.2	WXS	Illumina GAIIx	Phase_I	Q9H1K0	RBNS5_HUMAN			5	867	-			85					B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.254G>T	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982536	0.93044	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.72725	0.56;0.56;-0.68	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.976;0.982	T	0.82155	-0.0597	10	0.59425	D	0.04	-34.5623	19.8437	0.96701	0.0:1.0:0.0:0.0	.	85;85	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	V	85	ENSP00000253699:G85V;ENSP00000422551:G85V;ENSP00000391039:G85V	ENSP00000253699:G85V	G	-	2	0	ZFYVE20	15106945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.693000	0.91896	0.585000	0.79938	GGG		0.443	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		6	201	6	201	---	---	---	---	A	15131941	C	A	15131941	3	1	9	1	0	0	0	0	1	0	0	0	17663	623	22	1	2140	1	ZFYVE20	3	15131941	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1593671	15131941	182890489	185	424										
RFTN1	23180	broad.mit.edu	37	chr3	16358387	16358387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcctcagcatccccgtccCtggcatcctctccaggattg	7	18	2	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.chr3:16358387C>A	ENST00000334133.4	-	10	1957	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	562					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						ATCCCCGTCCCTGGCATCCTC	0.567																																						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.(1684-1686)aGg>aTg		raftlin, lipid raft linker 1							140	148	145					3																	16358387		2203	4299	6502	SO:0001583	missense	23180					plasma membrane		g.chr3:16358387C>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.1685G>T	3.37:g.16358387C>A	ENSP00000334153:p.Arg562Met		Somatic				OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron	p.R562M	NM_015150.1	NP_055965.1	WXS	Illumina GAIIx	Phase_I	Q14699	RFTN1_HUMAN			10	1957	-			562					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1685G>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396697	0.25205	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.36520	1.25;1.28	4.08	0.904	0.19302	.	1.836400	0.02539	N	0.094403	T	0.39489	0.1080	L	0.44542	1.39	0.09310	N	0.999997	P;P	0.49447	0.924;0.924	P;P	0.44772	0.46;0.46	T	0.46373	-0.9196	10	0.49607	T	0.09	1.5609	11.7944	0.52090	0.0:0.4709:0.5291:0.0	.	526;562	G3XAJ6;Q14699	.;RFTN1_HUMAN	M	526;562	ENSP00000403926:R526M;ENSP00000334153:R562M	ENSP00000334153:R562M	R	-	2	0	RFTN1	16333391	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.043000	0.12043	0.042000	0.15717	0.563000	0.77884	AGG		0.567	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		7	388	7	388	---	---	---	---	A	16358387	C	A	16358387	3	1	9	1	0	0	0	0	1	0	0	0	13258	681	24	1	55	1	RFTN1	3	16358387	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1226446	16358387	181664043	186	425										
OXSM	54995	broad.mit.edu	37	chr3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgctggtcacataactgccCctgatcctgaaggagaaggt	11	10	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.chr3:25833460C>A	ENST00000280701.3	+	2	1048	c.949C>A	c.(949-951)Cct>Act	p.P317T	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.P234T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	317					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)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428																																						ENST00000280701.3																			0				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.(949-951)Cct>Act		3-oxoacyl-ACP synthase, mitochondrial							77	82	80					3																	25833460		2203	4300	6503	SO:0001583	missense	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.chr3:25833460C>A	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.949C>A	3.37:g.25833460C>A	ENSP00000280701:p.Pro317Thr		Somatic				OXSM_ENST00000420173.2_Missense_Mutation_p.P234T	p.P317T	NM_017897.2	NP_060367.1	WXS	Illumina GAIIx	Phase_I	Q9NWU1	OXSM_HUMAN			2	1048	+			317						Missense_Mutation	SNP	ENST00000280701.3	37	c.949C>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516287	0.85495	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	6.05	6.05	0.98169	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.098437	0.64402	D	0.000001	D	0.89347	0.6689	H	0.94658	3.565	0.43036	D	0.994613	D;D	0.76494	0.997;0.999	D;D	0.72625	0.976;0.978	D	0.91223	0.5008	9	0.87932	D	0	-20.2326	20.6013	0.99457	0.0:1.0:0.0:0.0	.	234;317	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	T	317;234	.	ENSP00000280701:P317T	P	+	1	0	OXSM	25808464	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.786000	0.85741	2.878000	0.98634	0.650000	0.86243	CCT		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		6	205	6	205	---	---	---	---	A	25833460	C	A	25833460	3	1	9	1	0	0	0	0	1	0	0	0	11335	623	22	1	951	1	OXSM	3	25833460	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9475073	25833460	172188970	187	426										
SLC4A7	9497	broad.mit.edu	37	chr3	27436109	27436109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaaaacttgggttgttccCctggagcagaacattcagat	9	10	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.chr3:27436109C>A	ENST00000295736.5	-	20	3060	c.2990G>T	c.(2989-2991)gGg>gTg	p.G997V	SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	997					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)	GGGTTGTTCCCCTGGAGCAGA	0.433																																						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.(2989-2991)gGg>gTg		solute carrier family 4, sodium bicarbonate cotransporter, member 7							89	87	88					3																	27436109		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.chr3:27436109C>A	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.2990G>T	3.37:g.27436109C>A	ENSP00000295736:p.Gly997Val		Somatic				SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V	p.G997V	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			20	3060	-			997					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2990G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119261	0.94385	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96923	0.8995	H	0.97491	4.015	0.80722	D	1	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97797	1.0242	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	993;878;989;993;1006;547;873;997;878	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	548;997;873;1006;993;878;989;878;993;882;547;893	ENSP00000411031:G548V;ENSP00000295736:G997V;ENSP00000416368:G873V;ENSP00000390394:G1006V;ENSP00000414797:G993V;ENSP00000394252:G878V;ENSP00000406605:G989V;ENSP00000407382:G878V;ENSP00000406804:G993V;ENSP00000395336:G882V;ENSP00000373429:G547V;ENSP00000388703:G893V	ENSP00000295736:G997V	G	-	2	0	SLC4A7	27411113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.728000	0.93425	0.591000	0.81541	GGG		0.433	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		5	166	5	166	---	---	---	---	A	27436109	C	A	27436109	3	1	9	1	0	0	0	0	1	0	0	0	14658	623	22	1	678	1	SLC4A7	3	27436109	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1602649	27436109	170586321	188	427										
OSBPL10	114884	broad.mit.edu	37	chr3	31710260	31710260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaaagtaccattccattccCcatgggctttacaaacaatg	5	12	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.chr3:31710260C>A	ENST00000396556.2	-	10	2092	c.1970G>T	c.(1969-1971)gGg>gTg	p.G657V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	657					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)		ATTCCATTCCCCATGGGCTTT	0.418																																						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.(1969-1971)gGg>gTg		oxysterol binding protein-like 10							283	241	255					3																	31710260		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31710260C>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.1970G>T	3.37:g.31710260C>A	ENSP00000379804:p.Gly657Val		Somatic				OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	p.G657V	NM_017784.4	NP_060254.2	WXS	Illumina GAIIx	Phase_I	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2092	-			657					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1970G>T	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.567314|4.567314	0.86439|0.86439	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000396556;ENST00000438237|ENST00000429492	D;D|D	0.86956|0.87029	-2.19;-2.19|-2.2	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96272|0.96272	0.8784|0.8784	H|H	0.97962|0.97962	4.115|4.115	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	0.97320|0.97320	0.9943|0.9943	10|8	0.87932|0.56958	D|D	0|0.05	-31.5897|-31.5897	18.902|18.902	0.92446|0.92446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593;657;425|.	B4E212;Q9BXB5;Q59ED9|.	.;OSB10_HUMAN;.|.	V|W	657;593|426	ENSP00000379804:G657V;ENSP00000406124:G593V|ENSP00000416078:G426W	ENSP00000379804:G657V|ENSP00000416078:G426W	G|G	-|-	2|1	0|0	OSBPL10|OSBPL10	31685264|31685264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.776000|7.776000	0.85560|0.85560	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.418	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			8	345	8	345	---	---	---	---	A	31710260	C	A	31710260	3	1	9	1	0	0	0	0	1	0	0	0	11275	623	22	1	336	1	OSBPL10	3	31710260	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4274151	31710260	166312170	189	428										
GOLGA4	2803	broad.mit.edu	37	chr3	37388772	37388772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgctttttgagtatatgatGggtcgtgagactaaggtata	13	3	0	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.chr3:37388772G>T	ENST00000361924.2	+	21	6935	c.6561G>T	c.(6559-6561)atG>atT	p.M2187I	GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2187	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				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						AGTATATGATGGGTCGTGAGA	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.(6559-6561)atG>atT		golgin A4							114	108	110					3																	37388772		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37388772G>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.6561G>T	3.37:g.37388772G>T	ENSP00000354486:p.Met2187Ile		Somatic				GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron	p.M2187I	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			21	6935	+			2187			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6561G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011992	0.75046	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.34667	1.41;1.4;1.35	5.48	4.59	0.56863	GRIP (5);	0.000000	0.39834	N	0.001259	T	0.47948	0.1473	M	0.63843	1.955	0.42902	D	0.994239	B;B;P	0.49696	0.033;0.008;0.927	B;B;P	0.51657	0.046;0.009;0.676	T	0.50882	-0.8775	10	0.52906	T	0.07	.	14.3987	0.67027	0.0:0.0:0.8506:0.1493	.	2187;2202;2187	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	I	2187;2202;2058	ENSP00000354486:M2187I;ENSP00000349305:M2202I;ENSP00000405842:M2058I	ENSP00000349305:M2202I	M	+	3	0	GOLGA4	37363776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	1.277000	0.44412	0.455000	0.32223	ATG		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	168	5	168	---	---	---	---	T	37388772	G	T	37388772	3	4	9	1	0	0	0	0	1	0	0	0	6555	1348	47	1	6713	1	GOLGA4	3	37388772	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5678512	37388772	160633658	190	429										
DLEC1	9940	broad.mit.edu	37	chr3	38138188	38138188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atatgccctcatcatcccagGggagaactacattgggataa	9	10	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.chr3:38138188G>T	ENST00000308059.6	+	15	2321	c.2300G>T	c.(2299-2301)gGg>gTg	p.G767V	DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V					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)		ATCATCCCAGGGGAGAACTAC	0.488																																						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.(2299-2301)gGg>gTg		deleted in lung and esophageal cancer 1							149	146	147					3																	38138188		1968	4164	6132	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138188G>T	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.2300G>T	3.37:g.38138188G>T	ENSP00000308597:p.Gly767Val		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V	p.G767V			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2321	+			767						Missense_Mutation	SNP	ENST00000308059.6	37	c.2300G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923759	0.92319	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.09538	2.99;2.97;3.23	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.982;0.982;0.982	T	0.13522	-1.0506	10	0.66056	D	0.02	-30.9718	17.2825	0.87132	0.0:0.0:1.0:0.0	.	767;767;767	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	V	767	ENSP00000308597:G767V;ENSP00000315914:G767V;ENSP00000410427:G767V	ENSP00000308597:G767V	G	+	2	0	DLEC1	38113192	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.456000	0.90359	2.427000	0.82271	0.655000	0.94253	GGG		0.488	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	319	6	319	---	---	---	---	T	38138188	G	T	38138188	3	4	9	1	0	0	0	0	1	0	0	0	4552	1232	43	1	2358	1	DLEC1	3	38138188	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	749416	38138188	159884242	191	430										
ACAA1	30	broad.mit.edu	37	chr3	38167373	38167373	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgtcactcactgtcagccCtgcagacaaggtaaagacct	8	14	3	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.chr3:38167373C>A	ENST00000333167.8	-	10	1170		c.e10-1		ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|Y_RNA_ENST00000365095.1_RNA	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)		ACTGTCAGCCCTGCAGACAAG	0.582																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.e10-1		acetyl-CoA acyltransferase 1							139	125	130					3																	38167373		2203	4300	6503	SO:0001630	splice_region_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.chr3:38167373C>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	ENST00000333167.8:c.998-1G>T	3.37:g.38167373C>A			Somatic				ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site		NM_001607.3	NP_001598.1	WXS	Illumina GAIIx	Phase_I	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	10	1170	-								G5E935|Q96CA6	Splice_Site	SNP	ENST00000333167.8	37		CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000452171;ENST00000358122;ENST00000421218	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0783	0.93171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACAA1	38142377	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.369000	0.79578	2.504000	0.84457	0.655000	0.94253	.		0.582	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	Intron	4	142	4	142	---	---	---	---	A	38167373	C	A	38167373	5	1	9	1	0	0	0	0	0	0	1	0	104	695	24	1	289	1	ACAA1	3	38167373	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	29185	38167373	159855057	192	431										
XIRP1	165904	broad.mit.edu	37	chr3	39227674	39227674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgaagaccgtcctggatgGggttggaagtggctgttggg	18	7	0	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.chr3:39227674G>T	ENST00000340369.3	-	2	3491	c.3263C>A	c.(3262-3264)cCc>cAc	p.P1088H	XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1088					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)		GTCCTGGATGGGGTTGGAAGT	0.597																																						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.(3262-3264)cCc>cAc		xin actin-binding repeat containing 1							54	53	53					3																	39227674		2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227674G>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.3263C>A	3.37:g.39227674G>T	ENSP00000343140:p.Pro1088His		Somatic				XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H	p.P1088H	NM_194293.2	NP_919269.2	WXS	Illumina GAIIx	Phase_I	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3491	-			1088					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3263C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354550	0.24512	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05717	3.4;3.72	4.67	2.79	0.32731	.	1.674610	0.04148	U	0.320715	T	0.10035	0.0246	L	0.47716	1.5	0.18873	N	0.999984	B;B	0.15141	0.012;0.009	B;B	0.14578	0.011;0.007	T	0.41466	-0.9507	10	0.87932	D	0	.	11.4502	0.50147	0.0:0.0:0.6732:0.3267	.	1088;1088	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	1088	ENSP00000379550:P1088H;ENSP00000343140:P1088H	ENSP00000343140:P1088H	P	-	2	0	XIRP1	39202678	0.005000	0.15991	0.009000	0.14445	0.245000	0.25701	1.431000	0.34925	0.656000	0.30886	0.650000	0.86243	CCC		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	133	5	133	---	---	---	---	T	39227674	G	T	39227674	3	4	9	1	0	0	0	0	1	0	0	0	17426	1232	43	1	2272	1	XIRP1	3	39227674	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1060301	39227674	158794756	193	432										
ENTPD3	956	broad.mit.edu	37	chr3	40456250	40456250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccagccctttgactttagGggtgctcaaatcatttctgg	9	11	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.chr3:40456250G>T	ENST00000301825.3	+	6	634	c.516G>T	c.(514-516)agG>agT	p.R172S	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	172					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)		TTGACTTTAGGGGTGCTCAAA	0.428																																						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.(514-516)agG>agT		ectonucleoside triphosphate diphosphohydrolase 3							174	171	172					3																	40456250		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40456250G>T	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.516G>T	3.37:g.40456250G>T	ENSP00000301825:p.Arg172Ser		Somatic				ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S	p.R172S	NM_001248.2	NP_001239.2	WXS	Illumina GAIIx	Phase_I	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	6	634	+			172					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.516G>T	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724842	0.68959	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.10573	2.86;2.86;2.86	5.61	4.73	0.59995	.	0.095075	0.85682	D	0.000000	T	0.19927	0.0479	L	0.59436	1.845	0.40767	D	0.983055	D	0.63046	0.992	D	0.64042	0.921	T	0.18999	-1.0319	10	0.07482	T	0.82	-24.7604	8.6855	0.34234	0.1707:0.0:0.8293:0.0	.	172	O75355	ENTP3_HUMAN	S	172	ENSP00000301825:R172S;ENSP00000401565:R172S;ENSP00000404671:R172S	ENSP00000301825:R172S	R	+	3	2	ENTPD3	40431254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.192000	0.50989	1.521000	0.48983	0.655000	0.94253	AGG		0.428	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		6	344	6	344	---	---	---	---	T	40456250	G	T	40456250	3	4	9	1	0	0	0	0	1	0	0	0	5140	1223	43	1	534	1	ENTPD3	3	40456250	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1228576	40456250	157566180	194	433										
CTNNB1	1499	broad.mit.edu	37	chr3	41275023	41275023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttttatctccataggaaGggatggaaggtctccttggg	13	6	2	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.chr3:41275023G>T	ENST00000349496.5	+	9	1469	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	397					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)		TCCATAGGAAGGGATGGAAGG	0.428		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.(1189-1191)Ggg>Tgg		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						134	127	129					3																	41275023		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.chr3:41275023G>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.1189G>T	3.37:g.41275023G>T	ENSP00000344456:p.Gly397Trp		Somatic				CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W	p.G397W	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1469	+			397					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1189G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125605	0.77436	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.74647	2.275	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.54544	0.755;0.755	T	0.78298	-0.2258	10	0.87932	D	0	-23.1707	20.1865	0.98220	0.0:0.0:1.0:0.0	.	325;397	B4DSW9;P35222	.;CTNB1_HUMAN	W	397;397;397;390;397	ENSP00000385604:G397W;ENSP00000379486:G397W;ENSP00000344456:G397W;ENSP00000411226:G390W;ENSP00000379488:G397W	ENSP00000344456:G397W	G	+	1	0	CTNNB1	41250027	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.062000	0.89475	2.775000	0.95449	0.655000	0.94253	GGG		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	329	6	329	---	---	---	---	T	41275023	G	T	41275023	3	4	9	1	0	0	0	0	1	0	0	0	4016	1000	35	1	1219	1	CTNNB1	3	41275023	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	818773	41275023	156747407	195	434										
ZNF197	10168	broad.mit.edu	37	chr3	44673623	44673623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcccctgaagcttctgccCtttcccaggaagagaaccca	8	16	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.chr3:44673623C>A	ENST00000396058.1	+	3	744	c.577C>A	c.(577-579)Ctt>Att	p.L193I	ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	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)|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)		AGCTTCTGCCCTTTCCCAGGA	0.498																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(577-579)Ctt>Att		zinc finger protein 197							208	210	209					3																	44673623		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44673623C>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.577C>A	3.37:g.44673623C>A	ENSP00000379370:p.Leu193Ile		Somatic				ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I	p.L193I			WXS	Illumina GAIIx	Phase_I	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	3	744	+			193					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.577C>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187319	0.57909	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.08458	5.38;3.09;5.38;3.09	5.55	4.63	0.57726	.	0.476584	0.15701	N	0.248930	T	0.17195	0.0413	L	0.32530	0.975	0.22017	N	0.999413	P;D	0.58268	0.929;0.982	B;D	0.67548	0.296;0.952	T	0.06427	-1.0827	10	0.37606	T	0.19	.	12.9484	0.58386	0.0:0.8367:0.1633:0.0	.	193;193	Q86VG0;O14709	.;ZN197_HUMAN	I	193	ENSP00000373250:L193I;ENSP00000345809:L193I;ENSP00000373251:L193I;ENSP00000379370:L193I	ENSP00000345809:L193I	L	+	1	0	ZNF197	44648627	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	1.273000	0.33121	2.764000	0.94973	0.591000	0.81541	CTT		0.498	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		7	475	7	475	---	---	---	---	A	44673623	C	A	44673623	3	1	9	1	0	0	0	0	1	0	0	0	17756	681	24	1	587	1	ZNF197	3	44673623	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3398600	44673623	153348807	196	435										
LTF	4057	broad.mit.edu	37	chr3	46492139	46492139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagtaactcatactcgtccCtttcagcctcgtctgacagg	8	13	3	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.chr3:46492139C>A	ENST00000231751.4	-	7	1023	c.728G>T	c.(727-729)aGg>aTg	p.R243M	LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	243	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)		ATACTCGTCCCTTTCAGCCTC	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.(727-729)aGg>aTg		lactotransferrin	Pefloxacin(DB00487)						134	120	125					3																	46492139		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.chr3:46492139C>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.728G>T	3.37:g.46492139C>A	ENSP00000231751:p.Arg243Met		Somatic				LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	p.R243M	NM_002343.3	NP_002334.2	WXS	Illumina GAIIx	Phase_I	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)	7	1023	-			243			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.728G>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610823	0.28712	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.9	2.1	0.27182	.	0.368607	0.33005	N	0.005400	T	0.49745	0.1575	M	0.74258	2.255	0.09310	N	1	D;D;D	0.76494	0.983;0.999;0.983	D;D;D	0.63957	0.917;0.92;0.917	T	0.34675	-0.9819	10	0.87932	D	0	-0.3962	4.416	0.11455	0.0:0.6135:0.1885:0.198	.	243;230;243	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	M	243;199;243;230	ENSP00000231751:R243M;ENSP00000405719:R199M;ENSP00000405546:R243M;ENSP00000397427:R230M	ENSP00000231751:R243M	R	-	2	0	LTF	46467143	0.055000	0.20627	0.002000	0.10522	0.030000	0.12068	1.227000	0.32576	0.739000	0.32628	0.655000	0.94253	AGG		0.557	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		6	168	6	168	---	---	---	---	A	46492139	C	A	46492139	3	1	9	1	0	0	0	0	1	0	0	0	9079	681	24	1	1448	1	LTF	3	46492139	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1818516	46492139	151530291	197	436										
RTP3	83597	broad.mit.edu	37	chr3	46542219	46542219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctccccccatctcagaccCcaagagtacactccatttac	4	19	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.chr3:46542219C>A	ENST00000296142.3	+	2	1101	c.529C>A	c.(529-531)Cca>Aca	p.P177T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	177					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)				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)		ATCTCAGACCCCAAGAGTACA	0.522																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(529-531)Cca>Aca		receptor (chemosensory) transporter protein 3							77	76	77					3																	46542219		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.chr3:46542219C>A	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.529C>A	3.37:g.46542219C>A	ENSP00000296142:p.Pro177Thr		Somatic					p.P177T	NM_031440.1	NP_113628.1	WXS	Illumina GAIIx	Phase_I	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1101	+			177					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.529C>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439336	0.43326	.	.	ENSG00000163825	ENST00000296142	T	0.19669	2.13	2.32	2.32	0.28847	.	1.354520	0.05314	N	0.525302	T	0.28001	0.0690	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.59115	0.852	T	0.33497	-0.9866	10	0.54805	T	0.06	-9.8694	8.2419	0.31665	0.0:1.0:0.0:0.0	.	177	Q9BQQ7	RTP3_HUMAN	T	177	ENSP00000296142:P177T	ENSP00000296142:P177T	P	+	1	0	RTP3	46517223	0.005000	0.15991	0.012000	0.15200	0.052000	0.14988	0.581000	0.23819	1.605000	0.50152	0.462000	0.41574	CCA		0.522	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		5	152	5	152	---	---	---	---	A	46542219	C	A	46542219	3	1	9	1	0	0	0	0	1	0	0	0	13735	623	22	1	535	1	RTP3	3	46542219	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	50080	46542219	151480211	198	437										
MAP4	4134	broad.mit.edu	37	chr3	47951275	47951275	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattctcctatcacatgccCttcatcgatccctgcttcat	4	15	4	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.chr3:47951275C>A	ENST00000360240.6	-	8	2518				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.G1563W|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|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)	ATCACATGCCCTTCATCGATC	0.438																																						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.(4687-4689)Ggg>Tgg		microtubule-associated protein 4							109	104	105					3																	47951275		1988	4165	6153	SO:0001627	intron_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47951275C>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.1999+5031G>T	3.37:g.47951275C>A			Somatic				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000360240.6_Intron	p.G1563W			WXS	Illumina GAIIx	Phase_I	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	10	4774	-			933					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.4687G>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108284	0.37242	.	.	ENSG00000047849	ENST00000264724;ENST00000426837;ENST00000383736	T;T	0.60920	0.15;2.11	4.87	3.0	0.34707	.	.	.	.	.	T	0.69949	0.3168	.	.	.	0.09310	N	1	D;D	0.69078	0.997;0.996	D;D	0.74348	0.983;0.962	T	0.56177	-0.8022	7	.	.	.	.	8.27	0.31838	0.0:0.8042:0.0:0.1958	.	153;153	P27816-4;E9PGM5	.;.	W	153;1563;153	ENSP00000264724:G153W;ENSP00000407602:G1563W	.	G	-	1	0	MAP4	47926279	0.000000	0.05858	0.062000	0.19696	0.765000	0.43378	0.076000	0.14712	1.232000	0.43678	0.462000	0.41574	GGG		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		5	206	5	206	---	---	---	---	A	47951275	C	A	47951275	1	1	9	0	1	0	0	0	0	0	0	0	9258	681	24	1		1	MAP4	3	47951275	Intron	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1409056	47951275	150071155	199	438										
ATRIP	84126	broad.mit.edu	37	chr3	48506045	48506045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccagtcactggctccaactGccagtgtaatgtggaggtga	12	11	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.chr3:48506045G>T	ENST00000320211.3	+	11	2152	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000412052.1_Missense_Mutation_p.C587F|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000296443.9_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	680					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C680F(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCCAACTGCCAGTGTAAT	0.607								Other conserved DNA damage response genes																														ENST00000412052.1																			1	Substitution - Missense(1)	p.C680F(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1759-1761)tGc>tTc	Other conserved DNA damage response genes	ATR interacting protein							106	97	100					3																	48506045		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506045G>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2039G>T	3.37:g.48506045G>T	ENSP00000323099:p.Cys680Phe		Somatic				ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000320211.3_Missense_Mutation_p.C680F|ATRIP_ENST00000346691.4_Intron	p.C587F	NM_001271023.1	NP_001257952.1	WXS	Illumina GAIIx	Phase_I	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	2222	+			680					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1760G>T	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406752	0.62399	.	.	ENSG00000164053	ENST00000320211;ENST00000357105;ENST00000412052	T;T;T	0.79141	-0.77;-1.24;-0.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88444	0.3044	10	0.87932	D	0	-9.7837	17.2199	0.86954	0.0:0.0:1.0:0.0	.	680	Q8WXE1	ATRIP_HUMAN	F	680;553;587	ENSP00000323099:C680F;ENSP00000349620:C553F;ENSP00000400930:C587F	ENSP00000323099:C680F	C	+	2	0	ATRIP	48481049	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	5.626000	0.67777	2.667000	0.90743	0.561000	0.74099	TGC		0.607	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		5	158	5	158	---	---	---	---	T	48506045	G	T	48506045	3	4	9	1	0	0	0	0	1	0	0	0	1205	1319	46	3	2081	3	ATRIP	3	48506045	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	554770	48506045	149516385	200	439										
TREX1	11277	broad.mit.edu	37	chr3	48508890	48508890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcctccagtgaaggaccCtggagccctatccagggagg	12	13	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.chr3:48508890C>A	ENST00000422277.2	+	1	1662	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H|TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000296443.9_Missense_Mutation_p.P279H|SHISA5_ENST00000465449.1_5'Flank	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	334	Interaction with UBQLN1.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAAGGACCCTGGAGCCCTA	0.602																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(835-837)cCt>cAt		three prime repair exonuclease 1							65	68	67					3																	48508890		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508890C>A	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.1001C>A	3.37:g.48508890C>A	ENSP00000390478:p.Pro334His		Somatic				TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000422277.2_Missense_Mutation_p.P334H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H	p.P279H			WXS	Illumina GAIIx	Phase_I	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1723	+			334					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.836C>A	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857638	0.51376	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.63913	0.85;-0.07;0.85;0.75;0.86;-0.07	4.5	2.72	0.32119	.	.	.	.	.	T	0.62208	0.2409	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	P	0.47915	0.561	T	0.53767	-0.8392	9	0.87932	D	0	.	7.5446	0.27759	0.0:0.7981:0.0:0.2019	.	334	Q9NSU2	TREX1_HUMAN	H	279;140;279;334;269;140	ENSP00000296443:P279H;ENSP00000412404:P140H;ENSP00000392569:P279H;ENSP00000390478:P334H;ENSP00000415972:P269H;ENSP00000411331:P140H	ENSP00000296443:P279H	P	+	2	0	TREX1	48483894	0.002000	0.14202	0.007000	0.13788	0.004000	0.04260	0.985000	0.29578	0.456000	0.26937	-0.222000	0.12452	CCT		0.602	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		5	112	5	112	---	---	---	---	A	48508890	C	A	48508890	3	1	9	1	0	0	0	0	1	0	0	0	16473	681	24	1	1003	1	TREX1	3	48508890	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2845	48508890	149513540	201	440										
CCDC71	64925	broad.mit.edu	37	chr3	49201177	49201177	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaagcccactgctgcaccCcgggcatggctggcacttga	14	14	0	1	rs142878485		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.chr3:49201177C>A	ENST00000321895.6	-	2	571	c.465G>T	c.(463-465)cgG>cgT	p.R155R		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	155										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)		CTGCTGCACCCCGGGCATGGC	0.592																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(463-465)cgG>cgT		coiled-coil domain containing 71		C		0,4406		0,0,2203	60	61	61		465	4.5	0.4	3	dbSNP_134	61	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	CCDC71	NM_022903.3		0,2,6501	AA,AC,CC		0.0233,0.0,0.0154		155/468	49201177	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64925							g.chr3:49201177C>A	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.465G>T	3.37:g.49201177C>A			Somatic					p.R155R	NM_022903.3	NP_075054.3	WXS	Illumina GAIIx	Phase_I	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	571	-			155					Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	ENST00000321895.6	37	c.465G>T	CCDS2790.1																																																																																				0.592	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		4	72	4	72	---	---	---	---	A	49201177	C	A	49201177	2	1	9	1	0	0	0	0	0	0	0	1	2844	610	22	1		1	CCDC71	3	49201177	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	692287	49201177	148821253	202	441										
BSN	8927	broad.mit.edu	37	chr3	49692404	49692404	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgccagatataacctaccCaaccaagtagctcctctggc	6	14	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.chr3:49692404C>A	ENST00000296452.4	+	5	5529	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1805					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)		ATAACCTACCCAACCAAGTAG	0.592																																						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.(5413-5415)ccC>ccA		bassoon presynaptic cytomatrix protein							79	83	81					3																	49692404		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692404C>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.5415C>A	3.37:g.49692404C>A			Somatic					p.P1805P	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	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	5529	+			1805					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.5415C>A	CCDS2800.1																																																																																				0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	198	6	198	---	---	---	---	A	49692404	C	A	49692404	2	1	9	1	0	0	0	0	0	0	0	1	1530	581	21	1		1	BSN	3	49692404	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	491227	49692404	148330026	203	442										
ALAS1	211	broad.mit.edu	37	chr3	52240720	52240720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgctgcaaagatctgaccCctcagtccccaagattgtgg	9	13	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.chr3:52240720C>A	ENST00000394965.2	+	8	1478	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	373					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)	AGATCTGACCCCTCAGTCCCC	0.473																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1117-1119)cCc>cAc		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						157	152	154					3																	52240720		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.chr3:52240720C>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.1118C>A	3.37:g.52240720C>A	ENSP00000378416:p.Pro373His		Somatic				ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H	p.P373H	NM_000688.5	NP_000679.1	WXS	Illumina GAIIx	Phase_I	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	8	1478	+			373						Missense_Mutation	SNP	ENST00000394965.2	37	c.1118C>A	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.824847|4.824847	0.90955|0.90955	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|D	0.90732|0.95342	-2.72;-2.72;-2.72;-2.72|-3.68	5.42|5.42	5.42|5.42	0.78866|0.78866	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|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96194|0.96194	0.8759|0.8759	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	D|D	0.94556|0.94556	0.7758|0.7758	10|8	0.72032|0.17369	D|T	0.01|0.5	-22.6233|-22.6233	19.2364|19.2364	0.93862|0.93862	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	390;373|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	H|T	373|25	ENSP00000417719:P373H;ENSP00000378416:P373H;ENSP00000309259:P373H;ENSP00000418779:P373H|ENSP00000417352:P25T	ENSP00000309259:P373H|ENSP00000417352:P25T	P|P	+|+	2|1	0|0	ALAS1|ALAS1	52215760|52215760	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.974000|0.974000	0.67602|0.67602	7.760000|7.760000	0.85248|0.85248	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			6	200	6	200	---	---	---	---	A	52240720	C	A	52240720	3	1	9	1	0	0	0	0	1	0	0	0	484	623	22	1	1140	1	ALAS1	3	52240720	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2548316	52240720	145781710	204	443										
WDR82	80335	broad.mit.edu	37	chr3	52293888	52293888	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttaaaggtagcaaatggccCctgcaaaagataaaaaacag	8	8	0	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.chr3:52293888C>A	ENST00000296490.3	-	6	825	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	182					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)		GCAAATGGCCCCTGCAAAAGA	0.403																																						ENST00000296490.3																			0											c.(544-546)Ggg>Tgg		WD repeat domain 82							95	89	91					3																	52293888		1851	4087	5938	SO:0001630	splice_region_variant	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52293888C>A	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.544-1G>T	3.37:g.52293888C>A			Somatic					p.G182W	NM_025222.3	NP_079498.2	WXS	Illumina GAIIx	Phase_I	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	825	-			182					A8K5R5|Q8TEB2	Splice_Site	SNP	ENST00000296490.3	37	c.544G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	32	5.109817	0.94292	.	.	ENSG00000164091	ENST00000296490;ENST00000469000	T;T	0.68479	2.21;-0.33	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88500	0.6453	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.91496	0.5215	10	0.87932	D	0	-18.7219	19.8763	0.96873	0.0:1.0:0.0:0.0	.	182;68	Q6UXN9;C9JBU3	WDR82_HUMAN;.	W	182;68	ENSP00000296490:G182W;ENSP00000420779:G68W	ENSP00000296490:G182W	G	-	1	0	WDR82	52268928	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.616000	0.83018	2.703000	0.92315	0.591000	0.81541	GGG		0.403	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	Missense_Mutation	6	224	6	224	---	---	---	---	A	52293888	C	A	52293888	5	1	9	1	0	0	0	0	0	0	1	0	17328	637	22	1	413	1	WDR82	3	52293888	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	53168	52293888	145728542	205	444										
STAB1	23166	broad.mit.edu	37	chr3	52547910	52547910	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtaccaggtcttactgccCccccgaggggatgtgcccgg	13	15	1	0	rs370365365		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.chr3:52547910C>A	ENST00000321725.6	+	32	3436	c.3360C>A	c.(3358-3360)ccC>ccA	p.P1120P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1120					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)		TCTTACTGCCCCCCCGAGGGG	0.622																																						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.(3358-3360)ccC>ccA		stabilin 1							161	157	159					3																	52547910		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.chr3:52547910C>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.3360C>A	3.37:g.52547910C>A			Somatic					p.P1120P	NM_015136.2	NP_055951.2	WXS	Illumina GAIIx	Phase_I	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)	32	3436	+			1120					A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.3360C>A	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		9	354	9	354	---	---	---	---	A	52547910	C	A	52547910	2	1	9	1	0	0	0	0	0	0	0	1	15236	610	22	1		1	STAB1	3	52547910	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	254022	52547910	145474520	206	445										
STAB1	23166	broad.mit.edu	37	chr3	52557149	52557149	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacttctccaccttctatgGggtgtgtgggggccaccctt	11	13	2	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.chr3:52557149G>T	ENST00000321725.6	+	63	7095	c.7019G>T	c.(7018-7020)gGg>gTg	p.G2340V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2340	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)		ACCTTCTATGGGGTGTGTGGG	0.622																																						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.(7018-7020)gGg>gTg		stabilin 1							59	64	62					3																	52557149		2203	4299	6502	SO:0001630	splice_region_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.chr3:52557149G>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.7020+1G>T	3.37:g.52557149G>T			Somatic					p.G2340V	NM_015136.2	NP_055951.2	WXS	Illumina GAIIx	Phase_I	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)	63	7095	+			2340			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.7019G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618492	0.46736	.	.	ENSG00000010327	ENST00000321725	D	0.91843	-2.92	5.74	0.319	0.15873	FAS1 domain (3);	0.680417	0.15028	N	0.284621	D	0.87861	0.6284	L	0.60455	1.87	0.45883	D	0.998731	P;P	0.36616	0.554;0.561	B;B	0.38106	0.265;0.189	T	0.79097	-0.1943	10	0.28530	T	0.3	.	6.3549	0.21397	0.3207:0.4044:0.2749:0.0	.	227;2340	B3KSK0;Q9NY15	.;STAB1_HUMAN	V	2340	ENSP00000312946:G2340V	ENSP00000312946:G2340V	G	+	2	0	STAB1	52532189	0.621000	0.27077	0.917000	0.36280	0.897000	0.52465	0.103000	0.15292	0.036000	0.15547	0.561000	0.74099	GGG		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	5	91	5	91	---	---	---	---	T	52557149	G	T	52557149	5	4	9	1	0	0	0	0	0	0	1	0	15236	1246	43	1	7269	1	STAB1	3	52557149	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9239	52557149	145465281	207	446										
ACTR8	93973	broad.mit.edu	37	chr3	53905310	53905310	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccaggcccagggcttttcCttcaaacagcgagatggcag	11	12	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.chr3:53905310C>A	ENST00000335754.3	-	11	1616	c.1516G>T	c.(1516-1518)Gga>Tga	p.G506*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	506					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.G506*(1)|p.G211*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGGCTTTTCCTTCAAACAGC	0.547																																						ENST00000335754.3																			2	Substitution - Nonsense(2)	p.G506*(1)|p.G211*(1)	prostate(2)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1516-1518)Gga>Tga		ARP8 actin-related protein 8 homolog (yeast)							104	102	102					3																	53905310		2203	4300	6503	SO:0001587	stop_gained	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53905310C>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1516G>T	3.37:g.53905310C>A	ENSP00000336842:p.Gly506*		Somatic				ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*	p.G506*	NM_022899.4	NP_075050.3	WXS	Illumina GAIIx	Phase_I	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	11	1616	-			506					B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	c.1516G>T	CCDS2875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.120767|6.120767	0.97300|0.97300	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909|ENST00000486794	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.048846|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74527	.|0.3728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72537	.|-0.4263	.|3	0.18276|.	T|.	0.48|.	-11.7537|-11.7537	17.9356|17.9356	0.89011|0.89011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	506;395;211|259	.|.	ENSP00000231909:G211X|.	G|K	-|-	1|3	0|2	ACTR8|ACTR8	53880350|53880350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.530000|4.530000	0.60595|0.60595	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.547	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		6	234	6	234	---	---	---	---	A	53905310	C	A	53905310	4	1	9	1	0	0	0	0	0	1	0	0	217	690	24	1	370	1	ACTR8	3	53905310	Nonsense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1348161	53905310	144117120	208	447										
ACTR8	93973	broad.mit.edu	37	chr3	53912392	53912392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttaatcgaacctgttcagGggacacaggaatgcgtcttg	12	8	2	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.chr3:53912392G>T	ENST00000335754.3	-	3	497	c.397C>A	c.(397-399)Cct>Act	p.P133T	ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	133					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ACCTGTTCAGGGGACACAGGA	0.363																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(397-399)Cct>Act		ARP8 actin-related protein 8 homolog (yeast)							328	296	307					3																	53912392		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53912392G>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"INO80 complex subunits"	14672	protein-coding gene	gene with protein product	"INO80 complex subunit N"		"ARP8 (actin-related protein 8, yeast) homolog"			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.397C>A	3.37:g.53912392G>T	ENSP00000336842:p.Pro133Thr		Somatic				ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T	p.P133T	NM_022899.4	NP_075050.3	WXS	Illumina GAIIx	Phase_I	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	3	497	-			133					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.397C>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811539	0.70797	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;D	0.96265	-3.9;-3.96	5.83	5.83	0.93111	.	0.051336	0.85682	D	0.000000	D	0.95705	0.8603	L	0.42529	1.33	0.80722	D	1	P	0.44309	0.832	P	0.51415	0.669	D	0.93649	0.6971	10	0.13108	T	0.6	-19.8851	18.3161	0.90221	0.0:0.0:1.0:0.0	.	133	Q9H981	ARP8_HUMAN	T	133;22;22	ENSP00000336842:P133T;ENSP00000419429:P22T	ENSP00000336842:P133T	P	-	1	0	ACTR8	53887432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.886000	0.75611	2.755000	0.94549	0.650000	0.86243	CCT		0.363	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		7	425	7	425	---	---	---	---	T	53912392	G	T	53912392	3	4	9	1	0	0	0	0	1	0	0	0	217	1232	43	1	1521	1	ACTR8	3	53912392	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	7082	53912392	144110038	209	448										
SLMAP	7871	broad.mit.edu	37	chr3	57882650	57882650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctcttgccaaagtgtccCttttaaaaggtactttaaca	6	10	1	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.chr3:57882650C>A	ENST00000428312.1	+	15	1535	c.1441C>A	c.(1441-1443)Ctt>Att	p.L481I	SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000383718.3_Missense_Mutation_p.L477I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	481					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.L464F(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAAGTGTCCCTTTTAAAAGG	0.343																																						ENST00000383718.3																			1	Substitution - Missense(1)	p.L464F(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1429-1431)Ctt>Att		sarcolemma associated protein							138	138	138					3																	57882650		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57882650C>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1441C>A	3.37:g.57882650C>A	ENSP00000398661:p.Leu481Ile		Somatic				SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000428312.1_Missense_Mutation_p.L481I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I	p.L477I			WXS	Illumina GAIIx	Phase_I	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	15	1527	+			481					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1429C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673702|3.673702	0.67928|0.67928	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000461354;ENST00000466255|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T;T|.	0.64438|.	1.32;1.32;0.7;-0.1;1.31;1.3;0.99;0.35;0.72|.	6.06|6.06	4.27|4.27	0.50696|0.50696	.|.	0.065548|.	0.64402|.	D|.	0.000007|.	T|T	0.69602|0.69602	0.3129|0.3129	M|M	0.66939|0.66939	2.045|2.045	0.45676|0.45676	D|D	0.998594|0.998594	D;B;D;D;P;P;D;P;P|.	0.71674|.	0.993;0.0;0.998;0.996;0.917;0.95;0.994;0.95;0.84|.	D;B;D;D;P;P;P;P;P|.	0.87578|.	0.952;0.0;0.998;0.994;0.557;0.641;0.687;0.716;0.702|.	T|T	0.69566|0.69566	-0.5111|-0.5111	10|5	0.37606|.	T|.	0.19|.	-5.1839|-5.1839	12.1705|12.1705	0.54155|0.54155	0.0:0.8639:0.0:0.1361|0.0:0.8639:0.0:0.1361	.|.	15;15;15;15;75;443;481;464;477|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6|.	.;.;.;.;.;.;SLMAP_HUMAN;.;.|.	I|H	464;464;15;477;481;443;75;15;15;15;15;15|88;59	ENSP00000295951:L464I;ENSP00000295952:L464I;ENSP00000412342:L15I;ENSP00000373224:L477I;ENSP00000398661:L481I;ENSP00000412945:L443I;ENSP00000388978:L15I;ENSP00000419543:L15I;ENSP00000418218:L15I|.	ENSP00000295951:L464I|.	L|P	+|+	1|2	0|0	SLMAP|SLMAP	57857690|57857690	0.990000|0.990000	0.36364|0.36364	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	2.350000|2.350000	0.44063|0.44063	1.580000|1.580000	0.49851|0.49851	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.343	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		6	236	6	236	---	---	---	---	A	57882650	C	A	57882650	3	1	9	1	0	0	0	0	1	0	0	0	14749	681	24	1	1444	1	SLMAP	3	57882650	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3970258	57882650	140139780	210	449										
LRIG1	26018	broad.mit.edu	37	chr3	66467662	66467662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaggccttcagctggctccCctccacgctgcgaatcttgt	10	15	2	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.chr3:66467662C>A	ENST00000273261.3	-	4	918	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	LRIG1_ENST00000383703.3_Missense_Mutation_p.G132W	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	132					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)		AGCTGGCTCCCCTCCACGCTG	0.483																																						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.(394-396)Ggg>Tgg		leucine-rich repeats and immunoglobulin-like domains 1							225	203	211					3																	66467662		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467662C>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.394G>T	3.37:g.66467662C>A	ENSP00000273261:p.Gly132Trp		Somatic				LRIG1_ENST00000273261.3_Missense_Mutation_p.G132W	p.G132W			WXS	Illumina GAIIx	Phase_I	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	997	-		Lung NSC(201;0.0101)	132					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.394G>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295213	0.40594	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57595	0.39;0.39	5.95	5.08	0.68730	.	0.294226	0.37261	N	0.002168	T	0.55737	0.1939	N	0.19112	0.55	0.36195	D	0.850357	D;D	0.71674	0.998;0.997	D;D	0.75020	0.985;0.913	T	0.66685	-0.5861	10	0.72032	D	0.01	.	10.4582	0.44563	0.0:0.7966:0.1338:0.0696	.	132;132	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	W	132;132;59	ENSP00000273261:G132W;ENSP00000373208:G132W	ENSP00000273261:G132W	G	-	1	0	LRIG1	66550352	0.278000	0.24230	0.946000	0.38457	0.031000	0.12232	2.895000	0.48648	1.533000	0.49186	0.643000	0.83706	GGG		0.483	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	369	7	369	---	---	---	---	A	66467662	C	A	66467662	3	1	9	1	0	0	0	0	1	0	0	0	8944	623	22	1	2951	1	LRIG1	3	66467662	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8585012	66467662	131554768	211	450										
C3orf38	285237	broad.mit.edu	37	chr3	88202481	88202481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaagtacttggcaacacagGggattgttatacctccagct	9	9	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.chr3:88202481G>T	ENST00000318887.3	+	2	545	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W|C3orf38_ENST00000464919.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	79					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)		GGCAACACAGGGGATTGTTAT	0.398																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(235-237)Ggg>Tgg		chromosome 3 open reading frame 38							101	100	100					3																	88202481		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88202481G>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.235G>T	3.37:g.88202481G>T	ENSP00000322469:p.Gly79Trp		Somatic				C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W	p.G79W	NM_173824.3	NP_776185.2	WXS	Illumina GAIIx	Phase_I	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	545	+		Lung NSC(201;0.17)	79					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.235G>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839985	0.51057	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.84	5.84	0.93424	.	0.104850	0.64402	D	0.000003	T	0.76877	0.4049	M	0.70275	2.135	0.51482	D	0.999929	D	0.76494	0.999	D	0.79108	0.992	T	0.78580	-0.2149	9	0.87932	D	0	-8.4264	12.4529	0.55686	0.0758:0.0:0.9241:0.0	.	79	Q5JPI3	CC038_HUMAN	W	79	.	ENSP00000322469:G79W	G	+	1	0	C3orf38	88285171	1.000000	0.71417	0.570000	0.28473	0.023000	0.10783	7.075000	0.76798	2.764000	0.94973	0.650000	0.86243	GGG		0.398	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		5	191	5	191	---	---	---	---	T	88202481	G	T	88202481	3	4	9	1	0	0	0	0	1	0	0	0	2228	1232	43	1	241	1	C3orf38	3	88202481	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	21734819	88202481	109819949	212	451										
PROS1	5627	broad.mit.edu	37	chr3	93615462	93615462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attttaaatataaaacaaccCctgcaaactgctccgccaag	4	12	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.chr3:93615462C>A	ENST00000394236.3	-	9	1239	c.923G>T	c.(922-924)gGg>gTg	p.G308V	PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	308	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)	TAAAACAACCCCTGCAAACTG	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(922-924)gGg>gTg		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						76	83	81					3																	93615462		2199	4298	6497	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.chr3:93615462C>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.923G>T	3.37:g.93615462C>A	ENSP00000377783:p.Gly308Val		Somatic				PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	p.G308V	NM_000313.3	NP_000304.2	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			9	1239	-			308			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.923G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345409	0.61073	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.83419	-1.72;-1.72	4.04	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.058242	0.64402	D	0.000002	D	0.86138	0.5861	M	0.85542	2.76	0.80722	D	1	D	0.59357	0.985	P	0.47786	0.557	D	0.86236	0.1640	10	0.29301	T	0.29	.	14.5297	0.67915	0.0:1.0:0.0:0.0	.	308	P07225	PROS_HUMAN	V	308;177	ENSP00000377783:G308V;ENSP00000385794:G177V	ENSP00000377783:G308V	G	-	2	0	PROS1	95098152	0.992000	0.36948	0.348000	0.25681	0.728000	0.41692	3.143000	0.50608	2.097000	0.63578	0.305000	0.20034	GGG		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		6	294	6	294	---	---	---	---	A	93615462	C	A	93615462	3	1	9	1	0	0	0	0	1	0	0	0	12558	623	22	1	1135	1	PROS1	3	93615462	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5412981	93615462	104406968	213	452										
ARL13B	200894	broad.mit.edu	37	chr3	93769675	93769675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttttctttagttggctgGggaacccctaaagtcactag	9	9	3	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.chr3:93769675G>T	ENST00000394222.3	+	9	1424	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	ARL13B_ENST00000535334.1_Missense_Mutation_p.W280C|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C|ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	383	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						TAGTTGGCTGGGGAACCCCTA	0.378																																						ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(838-840)tgG>tgT		ADP-ribosylation factor-like 13B							72	73	73					3																	93769675		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93769675G>T	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.1149G>T	3.37:g.93769675G>T	ENSP00000377769:p.Trp383Cys		Somatic				ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000394222.3_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C	p.W280C	NM_001174151.1	NP_001167622.1	WXS	Illumina GAIIx	Phase_I	Q3SXY8	AR13B_HUMAN			8	1363	+			383					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.840G>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713684	0.68730	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.72725	1.02;-0.68;-0.35;-0.35;0.25	5.47	5.47	0.80525	.	0.062950	0.64402	D	0.000002	D	0.83193	0.5201	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	0.80764	0.986;0.942;0.994;0.942	D	0.84175	0.0436	10	0.62326	D	0.03	-0.9252	18.0865	0.89458	0.0:0.0:1.0:0.0	.	280;383;276;383	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	C	280;276;383;383;104	ENSP00000445145:W280C;ENSP00000306225:W276C;ENSP00000377769:W383C;ENSP00000420780:W383C;ENSP00000437977:W104C	ENSP00000306225:W276C	W	+	3	0	ARL13B	95252365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.100000	0.76989	2.583000	0.87209	0.655000	0.94253	TGG		0.378	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		5	132	5	132	---	---	---	---	T	93769675	G	T	93769675	3	4	9	1	0	0	0	0	1	0	0	0	929	1241	43	1	1183	1	ARL13B	3	93769675	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	154213	93769675	104252755	214	453										
NSUN3	63899	broad.mit.edu	37	chr3	93803223	93803223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctctggaattaagggatgGggagaaggttctggatctct	16	5	3	1	rs373585696		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.chr3:93803223G>T	ENST00000314622.4	+	3	606	c.395G>T	c.(394-396)gGg>gTg	p.G132V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	132							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTAAGGGATGGGGAGAAGGTT	0.453																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(394-396)gGg>gTg		NOP2/Sun domain family, member 3							98	100	100					3																	93803223		2202	4299	6501	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93803223G>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"NOP2/Sun domain containing"	26208	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 3", "NOL1/NOP2/Sun domain family, member 3"			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.395G>T	3.37:g.93803223G>T	ENSP00000318986:p.Gly132Val		Somatic					p.G132V	NM_022072.3	NP_071355.1	WXS	Illumina GAIIx	Phase_I	Q9H649	NSUN3_HUMAN			3	606	+			132					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.395G>T	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605236	0.87157	.	.	ENSG00000178694	ENST00000314622	T	0.19105	2.17	5.81	5.81	0.92471	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.050884	0.85682	D	0.000000	T	0.59729	0.2215	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68606	-0.5364	10	0.87932	D	0	-17.9447	20.0782	0.97758	0.0:0.0:1.0:0.0	.	132	Q9H649	NSUN3_HUMAN	V	132	ENSP00000318986:G132V	ENSP00000318986:G132V	G	+	2	0	NSUN3	95285913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.751000	0.74893	2.746000	0.94184	0.655000	0.94253	GGG		0.453	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		6	133	6	133	---	---	---	---	T	93803223	G	T	93803223	3	4	9	1	0	0	0	0	1	0	0	0	10679	1232	43	1	405	1	NSUN3	3	93803223	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	33548	93803223	104219207	215	454										
EPHA6	285220	broad.mit.edu	37	chr3	96706580	96706580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggcttttcaagacattgGggcgtgcattgccctggttt	12	9	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.chr3:96706580G>T	ENST00000389672.5	+	3	895	c.857G>T	c.(856-858)gGg>gTg	p.G286V	EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V|EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	192						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						CAAGACATTGGGGCGTGCATT	0.458																																						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.(856-858)gGg>gTg		EPH receptor A6							232	241	238					3																	96706580		1955	4186	6141	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706580G>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.857G>T	3.37:g.96706580G>T	ENSP00000374323:p.Gly286Val		Somatic				EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V	p.G286V	NM_001080448.2	NP_001073917.2	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			3	895	+			191					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.857G>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976742|3.976742	0.74360|0.74360	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	D|D	0.87325|0.87325	0.6149|0.6149	H|H	0.94964|0.94964	3.605|3.605	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	0.90669|0.90669	0.4596|0.4596	10|5	0.87932|.	D|.	0|.	.|.	18.3424|18.3424	0.90309|0.90309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	286;286|.	B3KS12;E7EU71|.	.;.|.	V|C	286;286;192|230	ENSP00000420598:G286V;ENSP00000374323:G286V;ENSP00000439758:G192V|.	ENSP00000374323:G286V|.	G|W	+|+	2|3	0|0	EPHA6|EPHA6	98189270|98189270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	9.869000|9.869000	0.99810|0.99810	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		9	573	9	573	---	---	---	---	T	96706580	G	T	96706580	3	4	9	1	0	0	0	0	1	0	0	0	5171	1232	43	1	867	1	EPHA6	3	96706580	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2903357	96706580	101315850	216	455										
CRYBG3	131544	broad.mit.edu	37	chr3	97662113	97662113	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgtaattgtaaatcagccCctggagggagaagaaacaca	10	8	1	2	rs201778793		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.chr3:97662113C>A	ENST00000182096.4	+	19	3088	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P|MINA_ENST00000333396.7_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2956							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAAATCAGCCCCTGGAGGGAG	0.363																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3022-3024)ccC>ccA		beta-gamma crystallin domain containing 3							85	83	84					3																	97662113		1827	4082	5909	SO:0001819	synonymous_variant	131544							g.chr3:97662113C>A			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.3024C>A	3.37:g.97662113C>A			Somatic				CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P	p.P1008P	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					19	3088	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.3024C>A																																																																																					0.363	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		5	103	5	103	---	---	---	---	A	97662113	C	A	97662113	2	1	9	1	0	0	0	0	0	0	0	1	3913	610	22	1		1	CRYBG3	3	97662113	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	955533	97662113	100360317	217	456										
OR5AC2	81050	broad.mit.edu	37	chr3	97806257	97806257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacttcaacctctataaccCctaggatgctggtcaatttc	6	12	3	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.chr3:97806257C>A	ENST00000358642.2	+	1	241	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	81					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTCTATAACCCCTAGGATGCT	0.418																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(241-243)Cct>Act		olfactory receptor, family 5, subfamily AC, member 2							218	213	215					3																	97806257		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806257C>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.241C>A	3.37:g.97806257C>A	ENSP00000351466:p.Pro81Thr		Somatic					p.P81T	NM_054106.1	NP_473447.1	WXS	Illumina GAIIx	Phase_I	Q9NZP5	O5AC2_HUMAN			1	241	+			81						Missense_Mutation	SNP	ENST00000358642.2	37	c.241C>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942081	0.92526	.	.	ENSG00000196578	ENST00000358642	T	0.01854	4.6	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.21921	0.0528	H	0.97758	4.07	0.36947	D	0.892652	D	0.63880	0.993	D	0.65010	0.931	T	0.49214	-0.8963	10	0.87932	D	0	-32.4792	16.6077	0.84835	0.0:1.0:0.0:0.0	.	81	Q9NZP5	O5AC2_HUMAN	T	81	ENSP00000351466:P81T	ENSP00000351466:P81T	P	+	1	0	OR5AC2	99288947	1.000000	0.71417	0.133000	0.22050	0.540000	0.34992	4.455000	0.60075	2.522000	0.85027	0.590000	0.80494	CCT		0.418	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			7	477	7	477	---	---	---	---	A	97806257	C	A	97806257	3	1	9	1	0	0	0	0	1	0	0	0	11141	623	22	1	243	1	OR5AC2	3	97806257	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	144144	97806257	100216173	218	457										
MYH15	22989	broad.mit.edu	37	chr3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacacctgccggttggcacAgctaagctggagttccatct	11	12	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.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		Somatic					p.C1643S	NM_014981.1	NP_055796.1	WXS	Illumina GAIIx	Phase_I	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	66	96	---	---	---	---	T	108117984	A	T	108117984	3	4	9	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	10311727	108117984	89904446	219	458										
SIDT1	54847	broad.mit.edu	37	chr3	113286504	113286504	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgtcgcatccatggcaccCctgggtgctcagtacaaact	10	13	1	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.chr3:113286504C>A	ENST00000264852.4	+	3	1188	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SIDT1_ENST00000393830.3_Silent_p.P154P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	154					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.P154P(2)		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						CCATGGCACCCCTGGGTGCTC	0.502																																						ENST00000264852.4																			2	Substitution - coding silent(2)	p.P154P(2)	lung(2)	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.(460-462)ccC>ccA		SID1 transmembrane family, member 1							163	154	157					3																	113286504		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113286504C>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.462C>A	3.37:g.113286504C>A			Somatic				SIDT1_ENST00000393830.3_Silent_p.P154P	p.P154P	NM_017699.2	NP_060169.2	WXS	Illumina GAIIx	Phase_I	Q9NXL6	SIDT1_HUMAN			3	1188	+			154					Q17RR4	Silent	SNP	ENST00000264852.4	37	c.462C>A	CCDS2974.1																																																																																				0.502	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		6	345	6	345	---	---	---	---	A	113286504	C	A	113286504	2	1	9	1	0	0	0	0	0	0	0	1	14302	610	22	1		1	SIDT1	3	113286504	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5168520	113286504	84735926	220	459										
ZDHHC23	254887	broad.mit.edu	37	chr3	113672875	113672875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaggaagtggtccccaaaGggcgtgtgggtcccgttcag	16	10	1	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.chr3:113672875G>T	ENST00000330212.3	+	3	789	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	164					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGTCCCCAAAGGGCGTGTGGG	0.517																																						ENST00000330212.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(490-492)Ggg>Tgg		zinc finger, DHHC-type containing 23							132	129	130					3																	113672875		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113672875G>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.490G>T	3.37:g.113672875G>T	ENSP00000330485:p.Gly164Trp		Somatic				ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	p.G164W	NM_173570.3	NP_775841.2	WXS	Illumina GAIIx	Phase_I	Q8IYP9	ZDH23_HUMAN			3	789	+			164					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.490G>T	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439934	0.83885	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.47528	0.84;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72214	-0.4358	10	0.87932	D	0	-3.4275	19.7359	0.96202	0.0:0.0:1.0:0.0	.	164	Q8IYP9	ZDH23_HUMAN	W	164;158	ENSP00000330485:G164W;ENSP00000417840:G158W	ENSP00000330485:G164W	G	+	1	0	ZDHHC23	115155565	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	9.209000	0.95087	2.672000	0.90937	0.462000	0.41574	GGG		0.517	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		6	269	6	269	---	---	---	---	T	113672875	G	T	113672875	3	4	9	1	0	0	0	0	1	0	0	0	17611	1000	35	1	496	1	ZDHHC23	3	113672875	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	386371	113672875	84349555	221	460										
PARP15	165631	broad.mit.edu	37	chr3	122340367	122340367	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataataattcatgttcctggGggaaaagatgtcaggaaaac	10	5	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.chr3:122340367G>T	ENST00000464300.2	+	8	1206	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	PARP15_ENST00000483793.1_Silent_p.G254G|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000310366.4_Silent_p.G146G	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	380	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)		ATGTTCCTGGGGGAAAAGATG	0.418																																						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.(760-762)ggG>ggT		poly (ADP-ribose) polymerase family, member 15							124	113	117					3																	122340367		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340367G>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.1140G>T	3.37:g.122340367G>T			Somatic				PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000464300.2_Silent_p.G380G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000465304.1_3'UTR	p.G254G			WXS	Illumina GAIIx	Phase_I	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	802	+			428					J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.762G>T	CCDS46893.1																																																																																				0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		5	177	5	177	---	---	---	---	T	122340367	G	T	122340367	2	4	9	1	0	0	0	0	0	0	0	1	11459	1219	43	1		1	PARP15	3	122340367	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8667492	122340367	75682063	222	461										
COPG	22820	broad.mit.edu	37	chr3	128971467	128971467	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttcttgattaacacaggGggagcacctggggaccacgg	13	10	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.chr3:128971467G>T	ENST00000314797.6	+	4	277	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	58					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)										TTAACACAGGGGGAGCACCTG	0.532																																						ENST00000314797.6																			0											c.(172-174)gGg>gTg		coatomer protein complex, subunit gamma 1							90	87	88					3																	128971467		2203	4300	6503	SO:0001630	splice_region_variant	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.chr3:128971467G>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.172-1G>T	3.37:g.128971467G>T			Somatic					p.G58V	NM_016128.3	NP_057212.1	WXS	Illumina GAIIx	Phase_I	Q9Y678	COPG_HUMAN			4	277	+			58					A8K6M8|B3KMF6|Q54AC4	Splice_Site	SNP	ENST00000314797.6	37	c.173G>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839827	0.91117	.	.	ENSG00000181789	ENST00000314797	T	0.59638	0.25	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81498	0.4835	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86337	0.1702	10	0.87932	D	0	-18.4717	15.9544	0.79871	0.0:0.0:1.0:0.0	.	58	Q9Y678	COPG_HUMAN	V	58	ENSP00000325002:G58V	ENSP00000325002:G58V	G	+	2	0	COPG	130454157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.727000	0.98787	2.372000	0.80975	0.491000	0.48974	GGG		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	Missense_Mutation	6	209	6	209	---	---	---	---	T	128971467	G	T	128971467	5	4	9	1	0	0	0	0	0	0	1	0	3731	1246	43	1	187	1	COPG	3	128971467	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6631100	128971467	69050963	223	462										
DNAJC13	23317	broad.mit.edu	37	chr3	132211347	132211347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcactttatcagtattgccCcattcctataatcaactatc	3	12	2	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.chr3:132211347C>A	ENST00000260818.6	+	33	3961	c.3713C>A	c.(3712-3714)cCc>cAc	p.P1238H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1238					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						CAGTATTGCCCCATTCCTATA	0.408																																						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.(3712-3714)cCc>cAc		DnaJ (Hsp40) homolog, subfamily C, member 13							205	221	216					3																	132211347		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132211347C>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.3713C>A	3.37:g.132211347C>A	ENSP00000260818:p.Pro1238His		Somatic					p.P1238H	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			33	3961	+			1238					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3713C>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980590	0.92982	.	.	ENSG00000138246	ENST00000260818	T	0.34667	1.35	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71869	-0.4462	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1238	O75165	DJC13_HUMAN	H	1238	ENSP00000260818:P1238H	ENSP00000260818:P1238H	P	+	2	0	DNAJC13	133694037	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCC		0.408	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		10	581	10	581	---	---	---	---	A	132211347	C	A	132211347	3	1	9	1	0	0	0	0	1	0	0	0	4632	623	22	1	3839	1	DNAJC13	3	132211347	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3239880	132211347	65811083	224	463										
SRPRB	58477	broad.mit.edu	37	chr3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgattccgggaaaacgttgcTctttgtcagggtaaatgatt	11	6	2	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.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		Somatic					p.L80R	NM_021203.3	NP_067026.3	WXS	Illumina GAIIx	Phase_I	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	21	165	---	---	---	---	G	133525537	T	G	133525537	3	3	9	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	1314190	133525537	64496893	225	464										
CLSTN2	64084	broad.mit.edu	37	chr3	140122471	140122471	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttccatccttctgcagGggaaatctgtgcgttcaaga	10	9	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.chr3:140122471G>T	ENST00000458420.3	+	3	423	c.233G>T	c.(232-234)gGg>gTg	p.G78V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	78	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)			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						CCTTCTGCAGGGGAAATCTGT	0.542										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.(232-234)gGg>gTg		calsyntenin 2							158	150	153					3																	140122471		2203	4300	6503	SO:0001630	splice_region_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140122471G>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.233-1G>T	3.37:g.140122471G>T		HNSCC(16;0.037)	Somatic					p.G78V	NM_022131.2	NP_071414.2	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			3	423	+			78			Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Splice_Site	SNP	ENST00000458420.3	37	c.233G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369013	0.82463	.	.	ENSG00000158258	ENST00000458420	T	0.47869	0.83	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.76321	-0.3002	9	.	.	.	.	17.1916	0.86881	0.0:0.0:1.0:0.0	.	78	Q9H4D0	CSTN2_HUMAN	V	78	ENSP00000402460:G78V	.	G	+	2	0	CLSTN2	141605161	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.299000	0.96137	2.649000	0.89929	0.650000	0.86243	GGG		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	Missense_Mutation	9	328	9	328	---	---	---	---	T	140122471	G	T	140122471	5	4	9	1	0	0	0	0	0	0	1	0	3562	1246	43	1	243	1	CLSTN2	3	140122471	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6596934	140122471	57899959	226	465										
RASA2	5922	broad.mit.edu	37	chr3	141272749	141272749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatggccaaagctgtgaccCttatgcaacagtttctctag	8	10	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.chr3:141272749C>A	ENST00000452898.1	+	6	613	c.578C>A	c.(577-579)cCt>cAt	p.P193H	RASA2_ENST00000286364.3_Missense_Mutation_p.P193H	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	193	C2 2. {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)|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						AGCTGTGACCCTTATGCAACA	0.318																																						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.(577-579)cCt>cAt		RAS p21 protein activator 2							122	121	121					3																	141272749		2203	4300	6503	SO:0001583	missense	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.chr3:141272749C>A	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.578C>A	3.37:g.141272749C>A	ENSP00000391677:p.Pro193His		Somatic				RASA2_ENST00000452898.1_Missense_Mutation_p.P193H	p.P193H			WXS	Illumina GAIIx	Phase_I	Q15283	RASA2_HUMAN			6	613	+			193			C2 2.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.578C>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.046677	0.75846	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.78003	-1.14;-1.14	5.54	4.66	0.58398	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.122833	0.56097	D	0.000035	D	0.92293	0.7555	H	0.97783	4.075	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.971;0.983	D	0.94293	0.7530	10	0.44086	T	0.13	.	16.4259	0.83814	0.0:0.8683:0.1317:0.0	.	193;193;193	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	H	193	ENSP00000286364:P193H;ENSP00000391677:P193H	ENSP00000286364:P193H	P	+	2	0	RASA2	142755439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.382000	0.73167	1.329000	0.45376	0.557000	0.71058	CCT		0.318	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		6	288	6	288	---	---	---	---	A	141272749	C	A	141272749	3	1	9	1	0	0	0	0	1	0	0	0	13061	681	24	1	600	1	RASA2	3	141272749	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1150278	141272749	56749681	227	466										
MED12L	116931	broad.mit.edu	37	chr3	150877858	150877858	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgtgcacagcatggtccCctggtttatggacttagttg	11	10	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.chr3:150877858C>A	ENST00000474524.1	+	7	1115	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	359						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)			AGCATGGTCCCCTGGTTTATG	0.522																																						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.(1075-1077)ccC>ccA		mediator complex subunit 12-like							105	109	107					3																	150877858		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877858C>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.1077C>A	3.37:g.150877858C>A			Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P	p.P359P	NM_053002.4	NP_443728.3	WXS	Illumina GAIIx	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1115	+			359					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1077C>A	CCDS33876.1																																																																																				0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	336	6	336	---	---	---	---	A	150877858	C	A	150877858	2	1	9	1	0	0	0	0	0	0	0	1	9429	610	22	1		1	MED12L	3	150877858	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9605109	150877858	47144572	228	467										
IGSF10	285313	broad.mit.edu	37	chr3	151166339	151166339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcttagtattgttatccCttgaaatcatagtccatttg	6	9	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.chr3:151166339C>A	ENST00000282466.3	-	4	1429	c.1430G>T	c.(1429-1431)aGg>aTg	p.R477M		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	477	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)			ATTGTTATCCCTTGAAATCAT	0.473																																						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.(1429-1431)aGg>aTg		immunoglobulin superfamily, member 10							253	232	239					3																	151166339		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166339C>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.1430G>T	3.37:g.151166339C>A	ENSP00000282466:p.Arg477Met		Somatic					p.R477M	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1429	-			477			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1430G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587947	0.13812	.	.	ENSG00000152580	ENST00000282466	T	0.70749	-0.51	5.08	3.23	0.37069	Immunoglobulin-like (1);	0.271361	0.25022	N	0.033749	T	0.52125	0.1715	L	0.45698	1.435	0.09310	N	1	P	0.39282	0.666	B	0.26517	0.07	T	0.46076	-0.9217	10	0.37606	T	0.19	.	4.6888	0.12771	0.159:0.6047:0.0:0.2362	.	477	Q6WRI0	IGS10_HUMAN	M	477	ENSP00000282466:R477M	ENSP00000282466:R477M	R	-	2	0	IGSF10	152649029	0.000000	0.05858	0.004000	0.12327	0.815000	0.46073	0.518000	0.22847	0.507000	0.28148	0.555000	0.69702	AGG		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	329	8	329	---	---	---	---	A	151166339	C	A	151166339	3	1	9	1	0	0	0	0	1	0	0	0	7597	681	24	1	6501	1	IGSF10	3	151166339	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	288481	151166339	46856091	229	468										
SMC4	10051	broad.mit.edu	37	chr3	160143934	160143934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaatgtacttgctacagccCctgacaaaaaaaagcagaaa	6	10	0	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.chr3:160143934C>A	ENST00000357388.3	+	17	3002	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T	SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	851					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)			TGCTACAGCCCCTGACAAAAA	0.338																																						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.(2551-2553)Cct>Act		structural maintenance of chromosomes 4							122	137	132					3																	160143934		2203	4298	6501	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143934C>A	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.2551C>A	3.37:g.160143934C>A	ENSP00000349961:p.Pro851Thr		Somatic				SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron	p.P851T	NM_001002800.1	NP_001002800.1	WXS	Illumina GAIIx	Phase_I	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3002	+			851					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2551C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908702	0.72868	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.7	5.7	0.88788	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.41492	1.28	0.80722	D	1	D;B;P;D	0.89917	1.0;0.025;0.946;0.966	D;B;P;P	0.76575	0.988;0.055;0.716;0.815	T	0.70443	-0.4870	10	0.14252	T	0.57	-11.0474	18.0159	0.89241	0.0:1.0:0.0:0.0	.	851;826;826;851	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	T	851;851;826;851;851;445	ENSP00000349961:P851T;ENSP00000353225:P851T;ENSP00000417964:P826T;ENSP00000420734:P851T;ENSP00000341382:P851T	ENSP00000341382:P851T	P	+	1	0	SMC4	161626628	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.275000	0.78548	2.686000	0.91538	0.555000	0.69702	CCT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	430	8	430	---	---	---	---	A	160143934	C	A	160143934	3	1	9	1	0	0	0	0	1	0	0	0	14785	623	22	1	2613	1	SMC4	3	160143934	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8977595	160143934	37878496	230	469										
PPM1L	151742	broad.mit.edu	37	chr3	160783260	160783260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacgtgggtgactcgcgcgGggtcctgtgtgacaaagatg	16	9	0	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.chr3:160783260G>T	ENST00000498165.1	+	3	745	c.644G>T	c.(643-645)gGg>gTg	p.G215V	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V	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)			GACTCGCGCGGGGTCCTGTGT	0.483																																					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>gTg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							113	111	111					3																	160783260		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.chr3:160783260G>T	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.644G>T	3.37:g.160783260G>T	ENSP00000417659:p.Gly215Val		Somatic				PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V	p.G215V	NM_139245.2	NP_640338.2	WXS	Illumina GAIIx	Phase_I	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	745	+			215			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.644G>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436528	0.62955	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.15372	2.43;2.43;2.43	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.31157	0.91	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.72075	0.943;0.976	T	0.02047	-1.1223	10	0.52906	T	0.07	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	88;215	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	V	215;36;88	ENSP00000417659:G215V;ENSP00000420746:G36V;ENSP00000295839:G88V	ENSP00000295839:G88V	G	+	2	0	PPM1L	162265954	1.000000	0.71417	0.861000	0.33841	0.322000	0.28314	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	GGG		0.483	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		6	161	6	161	---	---	---	---	T	160783260	G	T	160783260	3	4	9	1	0	0	0	0	1	0	0	0	12344	1232	43	1	654	1	PPM1L	3	160783260	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	639326	160783260	37239170	231	470										
SLITRK3	22865	broad.mit.edu	37	chr3	164905816	164905816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttccagccgagaagagaaGggtttctttgagcctggcat	12	9	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.chr3:164905816G>T	ENST00000475390.1	-	2	3246	c.2803C>A	c.(2803-2805)Ctt>Att	p.L935I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	935					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						GAGAAGAGAAGGGTTTCTTTG	0.498										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.(2803-2805)Ctt>Att		SLIT and NTRK-like family, member 3							172	171	171					3																	164905816		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164905816G>T	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.2803C>A	3.37:g.164905816G>T	ENSP00000420091:p.Leu935Ile	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I	p.L935I			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	3246	-			935					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2803C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673931	0.14841	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57595	0.39;0.39	5.65	5.65	0.86999	.	0.000000	0.31495	N	0.007550	T	0.57286	0.2043	N	0.14661	0.345	0.41337	D	0.987278	D	0.63880	0.993	D	0.67548	0.952	T	0.58662	-0.7597	10	0.35671	T	0.21	-13.7929	19.3274	0.94267	0.0:0.0:1.0:0.0	.	935	O94933	SLIK3_HUMAN	I	935	ENSP00000420091:L935I;ENSP00000241274:L935I	ENSP00000241274:L935I	L	-	1	0	SLITRK3	166388510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.895000	0.48648	2.661000	0.90470	0.655000	0.94253	CTT		0.498	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		8	426	8	426	---	---	---	---	T	164905816	G	T	164905816	3	4	9	1	0	0	0	0	1	0	0	0	14744	1000	35	1	134	1	SLITRK3	3	164905816	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4122556	164905816	33116614	232	471										
FNDC3B	64778	broad.mit.edu	37	chr3	172070714	172070714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagccccttgatgcctaccCtgattcaccttctgcgtgcc	9	16	2	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.chr3:172070714C>A	ENST00000336824.4	+	22	2735	c.2636C>A	c.(2635-2637)cCt>cAt	p.P879H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	879	Fibronectin type-III 7. {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)		GATGCCTACCCTGATTCACCT	0.547																																						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.(2635-2637)cCt>cAt		fibronectin type III domain containing 3B							113	94	101					3																	172070714		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172070714C>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.2636C>A	3.37:g.172070714C>A	ENSP00000338523:p.Pro879His		Somatic				FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	p.P879H	NM_001135095.1	NP_001128567.1	WXS	Illumina GAIIx	Phase_I	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	22	2735	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		879			Fibronectin type-III 7.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2636C>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905598	0.17760	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.25250	1.81;1.81;1.81	5.9	5.02	0.67125	Fibronectin, type III (3);	0.400317	0.30593	N	0.009285	T	0.11196	0.0273	N	0.04880	-0.145	0.35072	D	0.762614	B	0.02656	0.0	B	0.04013	0.001	T	0.19811	-1.0294	10	0.20519	T	0.43	-7.6366	7.4278	0.27109	0.1441:0.7136:0.0:0.1423	.	879	Q53EP0	FND3B_HUMAN	H	879	ENSP00000411242:P879H;ENSP00000338523:P879H;ENSP00000389094:P879H	ENSP00000338523:P879H	P	+	2	0	FNDC3B	173553408	0.004000	0.15560	0.107000	0.21349	0.533000	0.34776	1.242000	0.32755	1.471000	0.48121	0.563000	0.77884	CCT		0.547	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		5	141	5	141	---	---	---	---	A	172070714	C	A	172070714	3	1	9	1	0	0	0	0	1	0	0	0	5970	681	24	1	2718	1	FNDC3B	3	172070714	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7164898	172070714	25951716	233	472										
EIF4G1	1981	broad.mit.edu	37	chr3	184039469	184039469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagcctaatggcatggtccCatctgaagatctggaaccag	11	10	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.chr3:184039469C>A	ENST00000346169.2	+	10	1368	c.1097C>A	c.(1096-1098)cCa>cAa	p.P366Q	EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P366Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	366					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)			GGCATGGTCCCATCTGAAGAT	0.552																																						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.(1096-1098)cCa>cAa		eukaryotic translation initiation factor 4 gamma, 1							119	124	122					3																	184039469		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.chr3:184039469C>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.1097C>A	3.37:g.184039469C>A	ENSP00000316879:p.Pro366Gln		Somatic				EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P366Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q	p.P366Q	NM_182917.4	NP_886553	WXS	Illumina GAIIx	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1511	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		366					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1097C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555777	0.45487	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35789	3.94;3.92;3.87;2.81;2.79;3.93;2.98;3.74;3.93;3.85;3.93;3.94;3.93;3.92;2.39;3.75;3.71;1.29;3.73	5.5	3.73	0.42828	.	0.491906	0.23151	N	0.051350	T	0.26774	0.0655	L	0.29908	0.895	0.19945	N	0.999942	P;P;P;B	0.42039	0.769;0.61;0.769;0.077	B;B;B;B	0.42343	0.384;0.147;0.384;0.051	T	0.06807	-1.0806	10	0.23891	T	0.37	0.8658	9.6499	0.39890	0.0:0.839:0.0:0.161	.	373;366;366;373	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Q	366;326;279;366;373;373;307;202;373;279;366;366;373;326;202;202;170;170;170	ENSP00000316879:P366Q;ENSP00000391935:P326Q;ENSP00000376320:P279Q;ENSP00000391412:P366Q;ENSP00000413159:P373Q;ENSP00000371767:P373Q;ENSP00000403269:P307Q;ENSP00000317600:P202Q;ENSP00000338020:P373Q;ENSP00000407682:P279Q;ENSP00000343450:P366Q;ENSP00000323737:P366Q;ENSP00000416255:P373Q;ENSP00000395974:P326Q;ENSP00000398145:P202Q;ENSP00000399858:P202Q;ENSP00000411826:P170Q;ENSP00000399969:P170Q;ENSP00000404754:P170Q	ENSP00000323737:P366Q	P	+	2	0	EIF4G1	185522163	0.844000	0.29557	0.281000	0.24762	0.986000	0.74619	2.472000	0.45136	0.894000	0.36317	0.655000	0.94253	CCA		0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	280	7	280	---	---	---	---	A	184039469	C	A	184039469	3	1	9	1	0	0	0	0	1	0	0	0	5036	594	21	1	1127	1	EIF4G1	3	184039469	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	11968755	184039469	13982961	234	473										
TPRG1	285386	broad.mit.edu	37	chr3	188925227	188925227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtgtctctgaagcaagaGggagatgaccaaccctctga	12	10	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.chr3:188925227G>T	ENST00000345063.3	+	2	221	c.54G>T	c.(52-54)gaG>gaT	p.E18D	TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	18						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TGAAGCAAGAGGGAGATGACC	0.458																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(52-54)gaG>gaT		tumor protein p63 regulated 1							153	139	144					3																	188925227		2203	4300	6503	SO:0001583	missense	285386							g.chr3:188925227G>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.54G>T	3.37:g.188925227G>T	ENSP00000341031:p.Glu18Asp		Somatic				TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	p.E18D	NM_198485.3	NP_940887.1	WXS	Illumina GAIIx	Phase_I	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	2	221	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	18						Missense_Mutation	SNP	ENST00000345063.3	37	c.54G>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152481	0.38021	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	5.83	-1.05	0.10036	.	0.368202	0.31438	N	0.007641	T	0.19366	0.0465	N	0.14661	0.345	0.35216	D	0.77558	B	0.11235	0.004	B	0.08055	0.003	T	0.06267	-1.0836	9	0.15952	T	0.53	-20.226	0.8846	0.01241	0.3462:0.1265:0.3471:0.1802	.	18	Q6ZUI0	TPRG1_HUMAN	D	18	.	ENSP00000341031:E18D	E	+	3	2	TPRG1	190407921	0.998000	0.40836	0.996000	0.52242	0.891000	0.51852	0.081000	0.14823	-0.096000	0.12329	-0.126000	0.14955	GAG		0.458	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		5	182	5	182	---	---	---	---	T	188925227	G	T	188925227	3	4	9	1	0	0	0	0	1	0	0	0	16415	991	35	1	56	1	TPRG1	3	188925227	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4885758	188925227	9097203	235	474										
LSG1	55341	broad.mit.edu	37	chr3	194379704	194379704	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcagagtcaccattcagGggaatggctccggccaaagc	11	13	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.chr3:194379704G>T	ENST00000265245.5	-	7	1055	c.741C>A	c.(739-741)ccC>ccA	p.P247P		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	247	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACCATTCAGGGGAATGGCTC	0.453																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(739-741)ccC>ccA		large 60S subunit nuclear export GTPase 1							125	135	132					3																	194379704		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194379704G>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"large subunit GTPase 1 homolog (S. cerevisiae)"			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.741C>A	3.37:g.194379704G>T			Somatic					p.P247P	NM_018385.2	NP_060855.2	WXS	Illumina GAIIx	Phase_I	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	7	1055	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		247					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.741C>A	CCDS33922.1																																																																																				0.453	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		6	343	6	343	---	---	---	---	T	194379704	G	T	194379704	2	4	9	1	0	0	0	0	0	0	0	1	9049	1219	43	1		1	LSG1	3	194379704	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5454477	194379704	3642726	236	475										
UBXN7	26043	broad.mit.edu	37	chr3	196094919	196094919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaacgggcacattttttggGgggactgctagaaagtccat	13	7	0	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.chr3:196094919G>T	ENST00000296328.4	-	8	888	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T|UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272						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						CATTTTTTGGGGGGACTGCTA	0.403																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(814-816)Ccc>Acc		UBX domain protein 7							149	136	140					3																	196094919		1847	4089	5936	SO:0001583	missense	26043						protein binding	g.chr3:196094919G>T	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.814C>A	3.37:g.196094919G>T	ENSP00000296328:p.Pro272Thr		Somatic				UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T	p.P272T	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			8	888	-			272					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.814C>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705197	0.89018	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	T	0.52837	-0.8522	9	0.13853	T	0.58	-6.9015	19.1204	0.93360	0.0:0.0:1.0:0.0	.	272	O94888	UBXN7_HUMAN	T	272;110;124	.	ENSP00000296328:P272T	P	-	1	0	UBXN7	197579316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.426000	0.90273	2.734000	0.93682	0.655000	0.94253	CCC		0.403	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		6	278	6	278	---	---	---	---	T	196094919	G	T	196094919	3	4	9	1	0	0	0	0	1	0	0	0	16915	1232	43	1	671	1	UBXN7	3	196094919	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1715215	196094919	1927511	237	476										
ADD1	118	broad.mit.edu	37	chr4	2929972	2929972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactctccccgatctgtccCctgatgaaccttcagaagca	6	16	3	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.chr4:2929972C>A	ENST00000398129.1	+	14	1956	c.1936C>A	c.(1936-1938)Cct>Act	p.P646T	ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.P677T|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T			P35611	ADDA_HUMAN	adducin 1 (alpha)	646					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGATCTGTCCCCTGATGAACC	0.577																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000264758.7																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2029-2031)Cct>Act		adducin 1 (alpha)							184	208	200					4																	2929972		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2929972C>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1936C>A	4.37:g.2929972C>A	ENSP00000381197:p.Pro646Thr		Somatic				ADD1_ENST00000398129.1_Missense_Mutation_p.P646T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T	p.P677T	NM_014189.3	NP_054908.2	WXS	Illumina GAIIx	Phase_I	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2217	+			646					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.2029C>A	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.97|15.97	2.989167|2.989167	0.53934|0.53934	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398129	T|T;T;T	0.56103|0.07114	0.48|3.22;3.33;3.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.108134|0.108134	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.11707|0.11707	0.0285|0.0285	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.99999|0.99999	.|B;P	.|0.45531	.|0.437;0.86	.|B;P	.|0.47075	.|0.115;0.536	T|T	0.12553|0.12553	-1.0543|-1.0543	8|10	0.87932|0.07990	D|T	0|0.79	-9.6365|-9.6365	18.0244|18.0244	0.89264|0.89264	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|646;677	.|P35611;P35611-3	.|ADDA_HUMAN;.	H|T	102|677;646;646	ENSP00000441388:P102H|ENSP00000264758:P677T;ENSP00000399828:P646T;ENSP00000381197:P646T	ENSP00000441388:P102H|ENSP00000264758:P677T	P|P	+|+	2|1	0|0	ADD1|ADD1	2899770|2899770	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.955000|0.955000	0.61496|0.61496	5.244000|5.244000	0.65400|0.65400	2.315000|2.315000	0.78130|0.78130	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.577	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		8	466	8	466	---	---	---	---	A	2929972	C	A	2929972	3	1	9	1	0	0	0	0	1	0	0	0	304	623	22	1	2121	1	ADD1	4	2929972	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		2929972	188224304	238	477										
AFAP1	60312	broad.mit.edu	37	chr4	7787997	7787997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catagccgttggaggtgcccCctagatatgggttagcagat	13	9	0	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.chr4:7787997C>A	ENST00000360265.4	-	11	1688	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000420658.1_Missense_Mutation_p.G485V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	485						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						GGAGGTGCCCCCTAGATATGG	0.488																																						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.(1453-1455)gGg>gTg		actin filament associated protein 1							124	123	123					4																	7787997		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787997C>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.1454G>T	4.37:g.7787997C>A	ENSP00000353402:p.Gly485Val		Somatic				AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.G485V	p.G485V	NM_001134647.1	NP_001128119.1	WXS	Illumina GAIIx	Phase_I	Q8N556	AFAP1_HUMAN			12	1726	-			485					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1454G>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601633	0.66445	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16897	2.31;2.47;2.31;2.47	5.27	5.27	0.74061	.	0.106621	0.64402	D	0.000005	T	0.33933	0.0880	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.68621	0.839;0.959	T	0.01508	-1.1337	10	0.28530	T	0.3	-50.2484	12.2818	0.54767	0.0:0.9226:0.0:0.0774	.	485;485	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	485	ENSP00000353402:G485V;ENSP00000410689:G485V;ENSP00000351245:G485V;ENSP00000371983:G485V	ENSP00000351245:G485V	G	-	2	0	AFAP1	7838897	1.000000	0.71417	0.099000	0.21106	0.589000	0.36550	5.077000	0.64419	2.462000	0.83206	0.650000	0.86243	GGG		0.488	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	232	6	232	---	---	---	---	A	7787997	C	A	7787997	3	1	9	1	0	0	0	0	1	0	0	0	353	623	22	1	1018	1	AFAP1	4	7787997	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4858025	7787997	183366279	239	478										
LAP3	51056	broad.mit.edu	37	chr4	17590565	17590565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaatgcaaacgaaccaccCctggtgtttgttgggaaagg	11	11	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.chr4:17590565C>A	ENST00000226299.4	+	7	1102	c.828C>A	c.(826-828)ccC>ccA	p.P276P	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.P245P|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	276					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGAACCACCCCTGGTGTTTG	0.443																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(826-828)ccC>ccA		leucine aminopeptidase 3							104	102	103					4																	17590565		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17590565C>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.828C>A	4.37:g.17590565C>A			Somatic				AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR	p.P276P	NM_015907.2	NP_056991.2	WXS	Illumina GAIIx	Phase_I	P28838	AMPL_HUMAN			7	1102	+			276					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.828C>A	CCDS3422.1																																																																																				0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			8	254	8	254	---	---	---	---	A	17590565	C	A	17590565	2	1	9	1	0	0	0	0	0	0	0	1	8623	610	22	1		1	LAP3	4	17590565	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9802568	17590565	173563711	240	479										
NCAPG	64151	broad.mit.edu	37	chr4	17839311	17839311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaaacactggccaatgccCctgcatcttctcctttagct	6	15	2	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.chr4:17839311C>A	ENST00000251496.2	+	16	2529	c.2353C>A	c.(2353-2355)Cct>Act	p.P785T		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	785					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)		GGCCAATGCCCCTGCATCTTC	0.398																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2353-2355)Cct>Act		non-SMC condensin I complex, subunit G							168	167	167					4																	17839311		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17839311C>A	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.2353C>A	4.37:g.17839311C>A	ENSP00000251496:p.Pro785Thr		Somatic					p.P785T	NM_022346.4	NP_071741.2	WXS	Illumina GAIIx	Phase_I	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	16	2529	+			785					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2353C>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242384	0.79912	.	.	ENSG00000109805	ENST00000251496	T	0.36520	1.25	5.25	4.41	0.53225	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67910	-0.5548	10	0.72032	D	0.01	-16.7325	14.2392	0.65945	0.0:0.9274:0.0:0.0726	.	785	Q9BPX3	CND3_HUMAN	T	785	ENSP00000251496:P785T	ENSP00000251496:P785T	P	+	1	0	NCAPG	17448409	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.937000	0.75898	1.338000	0.45544	0.591000	0.81541	CCT		0.398	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		10	464	10	464	---	---	---	---	A	17839311	C	A	17839311	3	1	9	1	0	0	0	0	1	0	0	0	10207	623	22	1	2415	1	NCAPG	4	17839311	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	248746	17839311	173314965	241	480										
GPR125	166647	broad.mit.edu	37	chr4	22390780	22390780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatgccgcaaacaatgatgGggataccaccaccaatcagg	9	11	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.chr4:22390780G>T	ENST00000334304.5	-	18	2923	c.2654C>A	c.(2653-2655)cCc>cAc	p.P885H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	885					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)				AACAATGATGGGGATACCACC	0.413																																						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.(2653-2655)cCc>cAc		G protein-coupled receptor 125							185	189	188					4																	22390780		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390780G>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.2654C>A	4.37:g.22390780G>T	ENSP00000334952:p.Pro885His		Somatic				GPR125_ENST00000282943.5_5'UTR	p.P885H	NM_145290.3	NP_660333.2	WXS	Illumina GAIIx	Phase_I	Q8IWK6	GP125_HUMAN			18	2923	-		Breast(46;0.198)	885					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2654C>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508435	0.64410	.	.	ENSG00000152990	ENST00000334304	D	0.84589	-1.87	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94059	0.7325	10	0.87932	D	0	-29.5489	20.1496	0.98084	0.0:0.0:1.0:0.0	.	742;885	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	885	ENSP00000334952:P885H	ENSP00000334952:P885H	P	-	2	0	GPR125	21999878	1.000000	0.71417	0.712000	0.30502	0.003000	0.03518	9.471000	0.97696	2.755000	0.94549	0.655000	0.94253	CCC		0.413	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			6	355	6	355	---	---	---	---	T	22390780	G	T	22390780	3	4	9	1	0	0	0	0	1	0	0	0	6639	1232	43	1	1319	1	GPR125	4	22390780	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4551469	22390780	168763496	242	481										
RBPJ	3516	broad.mit.edu	37	chr4	26432054	26432054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgcagttgaatggcggtgGggacgtagcaatgcttgaac	15	6	0	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.chr4:26432054G>T	ENST00000361572.6	+	10	1291	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	RBPJ_ENST00000342320.4_Missense_Mutation_p.G352V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	366	IPT/TIG.				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)				AATGGCGGTGGGGACGTAGCA	0.363																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1054-1056)gGg>gTg		recombination signal binding protein for immunoglobulin kappa J region							140	133	136					4																	26432054		2203	4300	6503	SO:0001583	missense	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.chr4:26432054G>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.1097G>T	4.37:g.26432054G>T	ENSP00000354528:p.Gly366Val		Somatic				RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000361572.6_Missense_Mutation_p.G366V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V	p.G352V			WXS	Illumina GAIIx	Phase_I	Q06330	SUH_HUMAN			10	1231	+		Breast(46;0.0503)	366					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1055G>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231597	0.79688	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423	D;D;D;D;D;D;D;T	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;2.12	5.62	5.62	0.85841	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.58620	0.983;0.978;0.978;0.983	P;P;P;P	0.50934	0.654;0.522;0.522;0.654	D	0.92597	0.6088	10	0.66056	D	0.02	-10.7423	19.653	0.95825	0.0:0.0:1.0:0.0	.	353;352;351;366	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	V	351;366;366;353;352;331;352;52	ENSP00000305815:G351V;ENSP00000345206:G366V;ENSP00000354528:G366V;ENSP00000339699:G353V;ENSP00000347659:G352V;ENSP00000423907:G331V;ENSP00000340124:G352V;ENSP00000421804:G52V	ENSP00000345206:G366V	G	+	2	0	RBPJ	26041152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.555000	0.82223	2.658000	0.90341	0.655000	0.94253	GGG		0.363	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		5	162	5	162	---	---	---	---	T	26432054	G	T	26432054	3	4	9	1	0	0	0	0	1	0	0	0	13161	1232	43	1	1198	1	RBPJ	4	26432054	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4041274	26432054	164722222	243	482										
PGM2	55276	broad.mit.edu	37	chr4	37839188	37839188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaccacatttatcagtcagGggattcctgtgtacctcttt	7	11	3	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.chr4:37839188G>T	ENST00000381967.4	+	4	494	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	132					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						TATCAGTCAGGGGATTCCTGT	0.463																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(394-396)Ggg>Tgg		phosphoglucomutase 2							219	200	206					4																	37839188		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.chr4:37839188G>T	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.394G>T	4.37:g.37839188G>T	ENSP00000371393:p.Gly132Trp		Somatic				PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	p.G132W	NM_018290.3	NP_060760.2	WXS	Illumina GAIIx	Phase_I	Q96G03	PGM2_HUMAN			4	494	+			132					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.394G>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.548764	0.86127	.	.	ENSG00000169299	ENST00000381967	T	0.78924	-1.22	5.6	5.6	0.85130	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96187	0.9135	10	0.87932	D	0	-20.6683	19.6419	0.95762	0.0:0.0:1.0:0.0	.	132	Q96G03	PGM2_HUMAN	W	132	ENSP00000371393:G132W	ENSP00000371393:G132W	G	+	1	0	PGM2	37515583	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	9.773000	0.98989	2.652000	0.90054	0.645000	0.84053	GGG		0.463	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		6	351	6	351	---	---	---	---	T	37839188	G	T	37839188	3	4	9	1	0	0	0	0	1	0	0	0	11798	1232	43	1	408	1	PGM2	4	37839188	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11407134	37839188	153315088	244	483										
KLHL5	51088	broad.mit.edu	37	chr4	39109314	39109314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgttgccactatgtctaccCctaggagtacagtaggtgtg	11	9	1	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.chr4:39109314C>A	ENST00000504108.1	+	8	2072	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	KLHL5_ENST00000261425.3_Missense_Mutation_p.P551T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T|KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	597						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATGTCTACCCCTAGGAGTAC	0.418																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1651-1653)Cct>Act		kelch-like family member 5							98	88	92					4																	39109314		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39109314C>A	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.1789C>A	4.37:g.39109314C>A	ENSP00000423897:p.Pro597Thr		Somatic				KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000504108.1_Missense_Mutation_p.P597T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T	p.P551T	NM_001007075.2	NP_001007076.1	WXS	Illumina GAIIx	Phase_I	Q96PQ7	KLHL5_HUMAN			9	1803	+			597					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1651C>A	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.847486|4.847486	0.91277|0.91277	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000515612|ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	.|T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Galactose oxidase, beta-propeller (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90882|0.90882	0.7135|0.7135	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.59357	.|0.758;0.985;0.935	.|P;D;P	.|0.66497	.|0.572;0.944;0.811	D|D	0.90189|0.90189	0.4248|0.4248	6|10	.|0.44086	.|T	.|0.13	.|.	20.0114|20.0114	0.97452|0.97452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|536;597;597	.|F8WAE7;Q96PQ7;Q96PQ7-2	.|.;KLHL5_HUMAN;.	H|T	108|631;551;410;597;597;597;536;191	.|ENSP00000261425:P551T;ENSP00000423080:P410T;ENSP00000423897:P597T;ENSP00000352716:P597T;ENSP00000371355:P597T;ENSP00000261426:P536T	.|ENSP00000261425:P551T	P|P	+|+	2|1	0|0	KLHL5|KLHL5	38785709|38785709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.770000|7.770000	0.85390|0.85390	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.418	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			5	131	5	131	---	---	---	---	A	39109314	C	A	39109314	3	1	9	1	0	0	0	0	1	0	0	0	8392	623	22	1	1819	1	KLHL5	4	39109314	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1270126	39109314	152044962	245	484										
KCTD8	386617	broad.mit.edu	37	chr4	44177054	44177054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacaggtgcttttttagagGggcgatccaatgttaaagtg	13	5	0	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.chr4:44177054G>T	ENST00000360029.3	-	2	1458	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	392					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						TTTTTTAGAGGGGCGATCCAA	0.507										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.(1174-1176)cCc>cAc		potassium channel tetramerization domain containing 8							168	168	168					4																	44177054		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177054G>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.1175C>A	4.37:g.44177054G>T	ENSP00000353129:p.Pro392His	HNSCC(17;0.042)	Somatic					p.P392H	NM_198353.2	NP_938167.1	WXS	Illumina GAIIx	Phase_I	Q6ZWB6	KCTD8_HUMAN			2	1458	-			392					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1175C>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.303479|2.303479	0.40795|0.40795	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|T	0.47177|0.58506	0.85|0.33	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.134947|0.134947	0.33834|0.33834	N|N	0.004520|0.004520	T|T	0.61899|0.61899	0.2384|0.2384	L|L	0.36672|0.36672	1.1|1.1	0.45883|0.45883	D|D	0.998736|0.998736	B|.	0.30741|.	0.293|.	B|.	0.24394|.	0.053|.	T|T	0.66448|0.66448	-0.5921|-0.5921	10|8	0.87932|0.87932	D|D	0|0	.|.	16.846|16.846	0.85981|0.85981	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	392|.	Q6ZWB6|.	KCTD8_HUMAN|.	H|T	392|128	ENSP00000353129:P392H|ENSP00000424862:P128T	ENSP00000353129:P392H|ENSP00000424862:P128T	P|P	-|-	2|1	0|0	KCTD8|KCTD8	43871811|43871811	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.176000|0.176000	0.22953|0.22953	9.089000|9.089000	0.94137|0.94137	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	CCC|CCT		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			7	424	7	424	---	---	---	---	T	44177054	G	T	44177054	3	4	9	1	0	0	0	0	1	0	0	0	8115	1232	43	1	250	1	KCTD8	4	44177054	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5067740	44177054	146977222	246	485										
TECRL	253017	broad.mit.edu	37	chr4	65147241	65147241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaaaacatccatgtgaagGggttataatttggacttggg	13	4	0	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.chr4:65147241G>T	ENST00000381210.3	-	10	979	c.869C>A	c.(868-870)cCc>cAc	p.P290H	TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					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)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCATGTGAAGGGGTTATAATT	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(868-870)cCc>cAc		trans-2,3-enoyl-CoA reductase-like							104	101	102					4																	65147241		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.chr4:65147241G>T	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.869C>A	4.37:g.65147241G>T	ENSP00000370607:p.Pro290His		Somatic				TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	p.P290H	NM_001010874.4	NP_001010874.2	WXS	Illumina GAIIx	Phase_I	Q5HYJ1	TECRL_HUMAN			10	979	-			290						Missense_Mutation	SNP	ENST00000381210.3	37	c.869C>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003498	0.74932	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.51071	0.72;0.72	5.56	5.56	0.83823	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.88979	2.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78602	-0.2140	10	0.87932	D	0	-12.6891	15.0932	0.72211	0.0:0.0:1.0:0.0	.	290	Q5HYJ1	TECRL_HUMAN	H	290;290;5	ENSP00000426043:P290H;ENSP00000370607:P290H	ENSP00000370607:P290H	P	-	2	0	TECRL	64829836	1.000000	0.71417	0.988000	0.46212	0.852000	0.48524	6.870000	0.75526	2.618000	0.88619	0.650000	0.86243	CCC		0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		5	161	5	161	---	---	---	---	T	65147241	G	T	65147241	3	4	9	1	0	0	0	0	1	0	0	0	15743	1232	43	1	234	1	TECRL	4	65147241	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	20970187	65147241	126007035	247	486										
UGT2A3	79799	broad.mit.edu	37	chr4	69798449	69798449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccacaataccatcttccCctgaactctggacaaaattt	3	14	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.chr4:69798449C>A	ENST00000251566.4	-	3	923	c.893G>T	c.(892-894)gGg>gTg	p.G298V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	298					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						ACCATCTTCCCCTGAACTCTG	0.358																																						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.(892-894)gGg>gTg		UDP glucuronosyltransferase 2 family, polypeptide A3							122	125	124					4																	69798449		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798449C>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.893G>T	4.37:g.69798449C>A	ENSP00000251566:p.Gly298Val		Somatic				UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	p.G298V	NM_024743.3	NP_079019.3	WXS	Illumina GAIIx	Phase_I	Q6UWM9	UD2A3_HUMAN			3	923	-			298					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.893G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270283	0.23221	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.77620	-1.11;-1.11	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	H	0.97874	4.095	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.91618	0.5308	10	0.87932	D	0	.	9.774	0.40607	0.0:1.0:0.0:0.0	.	298	Q6UWM9	UD2A3_HUMAN	V	298;9	ENSP00000251566:G298V;ENSP00000440115:G9V	ENSP00000251566:G298V	G	-	2	0	UGT2A3	69833038	0.998000	0.40836	0.005000	0.12908	0.093000	0.18481	4.678000	0.61641	1.147000	0.42369	0.561000	0.74099	GGG		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		8	373	8	373	---	---	---	---	A	69798449	C	A	69798449	3	1	9	1	0	0	0	0	1	0	0	0	16952	623	22	1	706	1	UGT2A3	4	69798449	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4651208	69798449	121355827	248	487										
ADAMTS3	9508	broad.mit.edu	37	chr4	73186567	73186567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcttctggatgggtttccCctttctatgaggctgatgga	12	8	2	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.chr4:73186567C>A	ENST00000286657.4	-	7	1002	c.966G>T	c.(964-966)agG>agT	p.R322S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	322	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)			ATGGGTTTCCCCTTTCTATGA	0.428																																					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.(964-966)agG>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							127	121	123					4																	73186567		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.chr4:73186567C>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.966G>T	4.37:g.73186567C>A	ENSP00000286657:p.Arg322Ser		Somatic					p.R322S	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	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	1002	-			322			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.966G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978535	0.34942	.	.	ENSG00000156140	ENST00000286657	T	0.61627	0.09	6.07	3.05	0.35203	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.060607	0.64402	D	0.000009	T	0.43743	0.1261	N	0.03903	-0.33	0.47547	D	0.999451	D	0.56746	0.977	P	0.61940	0.896	T	0.28106	-1.0054	10	0.13108	T	0.6	.	8.011	0.30353	0.0:0.5989:0.0:0.4011	.	322	O15072	ATS3_HUMAN	S	322	ENSP00000286657:R322S	ENSP00000286657:R322S	R	-	3	2	ADAMTS3	73405431	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.635000	0.24629	0.897000	0.36392	0.655000	0.94253	AGG		0.428	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	152	5	152	---	---	---	---	A	73186567	C	A	73186567	3	1	9	1	0	0	0	0	1	0	0	0	267	622	22	1	2715	1	ADAMTS3	4	73186567	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3388118	73186567	117967709	249	488										
CCDC158	339965	broad.mit.edu	37	chr4	77276527	77276527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaactgtatcttgctctgaaGggcatctatctgacctcttt	7	10	5	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.chr4:77276527G>T	ENST00000388914.3	-	14	2388	c.2236C>A	c.(2236-2238)Ctt>Att	p.L746I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	746										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						TTGCTCTGAAGGGCATCTATC	0.438																																						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.(2236-2238)Ctt>Att		coiled-coil domain containing 158							256	236	243					4																	77276527		1923	4136	6059	SO:0001583	missense	339965							g.chr4:77276527G>T	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.2236C>A	4.37:g.77276527G>T	ENSP00000373566:p.Leu746Ile		Somatic					p.L746I	NM_001042784.1	NP_001036249.1	WXS	Illumina GAIIx	Phase_I	Q5M9N0	CD158_HUMAN			14	2388	-			746					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2236C>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812711	0.70912	.	.	ENSG00000163749	ENST00000388914	D	0.81659	-1.52	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000097	T	0.80407	0.4617	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.79732	-0.1680	10	0.46703	T	0.11	.	9.6947	0.40150	0.0917:0.0:0.9083:0.0	.	746	Q5M9N0	CD158_HUMAN	I	746	ENSP00000373566:L746I	ENSP00000373566:L746I	L	-	1	0	CCDC158	77495551	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.630000	0.46494	2.719000	0.93026	0.655000	0.94253	CTT		0.438	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	468	7	468	---	---	---	---	T	77276527	G	T	77276527	3	4	9	1	0	0	0	0	1	0	0	0	2790	1000	35	1	1149	1	CCDC158	4	77276527	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4089960	77276527	113877749	250	489										
PRDM8	56978	broad.mit.edu	37	chr4	81123291	81123291	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacctttaggcccgggtccCaagttttgcaaagccggccc	11	15	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.chr4:81123291C>A	ENST00000504452.1	+	8	1514	c.675C>A	c.(673-675)ccC>ccA	p.P225P	PRDM8_ENST00000339711.4_Silent_p.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	225	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						GCCCGGGTCCCAAGTTTTGCA	0.697											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.(673-675)ccC>ccA		PR domain containing 8							16	22	20					4																	81123291		1988	4148	6136	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123291C>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.675C>A	4.37:g.81123291C>A			Somatic	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.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P	p.P225P	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	1906	+			225			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.675C>A	CCDS43243.1																																																																																				0.697	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	28	3	28	---	---	---	---	A	81123291	C	A	81123291	2	1	9	1	0	0	0	0	0	0	0	1	12462	581	21	1		1	PRDM8	4	81123291	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3846764	81123291	110030985	251	490										
WDFY3	23001	broad.mit.edu	37	chr4	85664946	85664946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttcttgtagacctttcagGggaagcctaatcaagaaaat	9	7	3	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.chr4:85664946G>T	ENST00000295888.4	-	37	6387	c.5980C>A	c.(5980-5982)Cct>Act	p.P1994T	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1994T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1994					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)		GACCTTTCAGGGGAAGCCTAA	0.318																																						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.(5980-5982)Cct>Act		WD repeat and FYVE domain containing 3							71	70	71					4																	85664946		2203	4299	6502	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85664946G>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.5980C>A	4.37:g.85664946G>T	ENSP00000295888:p.Pro1994Thr		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.P1994T	p.P1994T			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	37	6387	-		Hepatocellular(203;0.114)	1994					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5980C>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558804	0.86231	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.70399	-0.48;-0.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85215	0.1023	10	0.72032	D	0.01	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	1994	Q8IZQ1	WDFY3_HUMAN	T	1994	ENSP00000318466:P1994T;ENSP00000295888:P1994T	ENSP00000295888:P1994T	P	-	1	0	WDFY3	85883970	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.094000	0.94168	2.660000	0.90430	0.467000	0.42956	CCT		0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	118	6	118	---	---	---	---	T	85664946	G	T	85664946	3	4	9	1	0	0	0	0	1	0	0	0	17267	1232	43	1	4728	1	WDFY3	4	85664946	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4541655	85664946	105489330	252	491										
HSD17B11	51170	broad.mit.edu	37	chr4	88303482	88303482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaccttggcacccagtccCttgcatttggcagctgtttc	9	13	0	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.chr4:88303482C>A	ENST00000358290.4	-	2	558	c.243G>T	c.(241-243)aaG>aaT	p.K81N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	81					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CACCCAGTCCCTTGCATTTGG	0.398																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(241-243)aaG>aaT		hydroxysteroid (17-beta) dehydrogenase 11							174	178	176					4																	88303482		2203	4300	6503	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88303482C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.243G>T	4.37:g.88303482C>A	ENSP00000351035:p.Lys81Asn		Somatic				HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	p.K81N	NM_016245.3	NP_057329.2	WXS	Illumina GAIIx	Phase_I	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	2	558	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	81					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.243G>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181002	0.21787	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.89810	-2.57;-2.32	5.47	3.48	0.39840	NAD(P)-binding domain (1);	0.522655	0.21003	N	0.081832	T	0.80491	0.4633	L	0.28274	0.84	0.09310	N	1	B	0.30526	0.283	B	0.28849	0.095	T	0.71244	-0.4650	10	0.44086	T	0.13	.	9.2248	0.37400	0.0:0.73:0.0:0.27	.	81	Q8NBQ5	DHB11_HUMAN	N	81	ENSP00000351035:K81N;ENSP00000423775:K81N	ENSP00000351035:K81N	K	-	3	2	HSD17B11	88522506	0.005000	0.15991	0.838000	0.33150	0.212000	0.24457	1.417000	0.34770	1.303000	0.44873	0.591000	0.81541	AAG		0.398	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		6	385	6	385	---	---	---	---	A	88303482	C	A	88303482	3	1	9	1	0	0	0	0	1	0	0	0	7380	680	24	1	683	1	HSD17B11	4	88303482	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2638536	88303482	102850794	253	492										
TACR3	6870	broad.mit.edu	37	chr4	104510993	104510993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggtgtctgcatcgttgGggtcaaacacgactgtcatg	14	8	3	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.chr4:104510993G>T	ENST00000304883.2	-	5	1384	c.1244C>A	c.(1243-1245)cCc>cAc	p.P415H	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415					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)		TGCATCGTTGGGGTCAAACAC	0.512																																						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.(1243-1245)cCc>cAc		tachykinin receptor 3							265	242	250					4																	104510993		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510993G>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.1244C>A	4.37:g.104510993G>T	ENSP00000303325:p.Pro415His		Somatic				RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.P415H	NM_001059.2	NP_001050.1	WXS	Illumina GAIIx	Phase_I	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1384	-		Hepatocellular(203;0.217)	415					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1244C>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558989	0.27827	.	.	ENSG00000169836	ENST00000304883	T	0.64085	-0.08	5.54	5.54	0.83059	.	0.512209	0.20185	N	0.097431	T	0.64159	0.2573	M	0.66939	2.045	0.37567	D	0.919299	B	0.09022	0.002	B	0.10450	0.005	T	0.63391	-0.6648	10	0.44086	T	0.13	.	18.4904	0.90844	0.0:0.0:1.0:0.0	.	415	P29371	NK3R_HUMAN	H	415	ENSP00000303325:P415H	ENSP00000303325:P415H	P	-	2	0	TACR3	104730442	1.000000	0.71417	0.065000	0.19835	0.001000	0.01503	4.340000	0.59328	2.605000	0.88082	0.591000	0.81541	CCC		0.512	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		8	517	8	517	---	---	---	---	T	104510993	G	T	104510993	3	4	9	1	0	0	0	0	1	0	0	0	15504	1232	43	1	157	1	TACR3	4	104510993	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	16207511	104510993	86643283	254	493										
ANK2	287	broad.mit.edu	37	chr4	114176921	114176921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccactacacatggctgccCagggagaccacgtggaatgt	11	13	0	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.chr4:114176921C>A	ENST00000357077.4	+	11	1074	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	341					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)		CATGGCTGCCCAGGGAGACCA	0.458																																						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.(1021-1023)Cag>Aag		ankyrin 2, neuronal							175	153	161					4																	114176921		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114176921C>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.1021C>A	4.37:g.114176921C>A	ENSP00000349588:p.Gln341Lys		Somatic				ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K	p.Q341K	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1074	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	341					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1021C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227076	0.95173	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64618	-0.11;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.241588	0.28983	N	0.013508	T	0.63896	0.2550	N	0.11201	0.11	0.80722	D	1	B;P;B;P;P	0.36683	0.252;0.565;0.112;0.516;0.532	B;P;B;B;B	0.53760	0.37;0.734;0.197;0.281;0.295	T	0.69355	-0.5167	10	0.72032	D	0.01	.	19.8152	0.96564	0.0:1.0:0.0:0.0	.	341;341;341;320;320	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	K	320;320;320;356;341;341;341;320	ENSP00000423799:Q320K;ENSP00000421011:Q320K;ENSP00000421067:Q320K;ENSP00000424722:Q356K;ENSP00000378044:Q341K;ENSP00000349588:Q341K;ENSP00000264366:Q341K	ENSP00000264366:Q341K	Q	+	1	0	ANK2	114396370	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	7.787000	0.85759	2.692000	0.91855	0.655000	0.94253	CAG		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	251	7	251	---	---	---	---	A	114176921	C	A	114176921	3	1	9	1	0	0	0	0	1	0	0	0	621	595	21	1	1088	1	ANK2	4	114176921	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9665928	114176921	76977355	255	494										
FAT4	79633	broad.mit.edu	37	chr4	126242169	126242169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttatatcacaaaacgccCttgctgcagacccatcagct	6	13	2	1	rs375824375		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.chr4:126242169C>A	ENST00000394329.3	+	1	4616	c.4603C>A	c.(4603-4605)Ctt>Att	p.L1535I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1535	Cadherin 15. {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						ACAAAACGCCCTTGCTGCAGA	0.433																																						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.(4603-4605)Ctt>Att		FAT atypical cadherin 4							161	148	152					4																	126242169		1959	4157	6116	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242169C>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.4603C>A	4.37:g.126242169C>A	ENSP00000377862:p.Leu1535Ile		Somatic					p.L1535I	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	4616	+			1535			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4603C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037483	0.35989	.	.	ENSG00000196159	ENST00000394329	T	0.60920	0.15	4.35	4.35	0.52113	Cadherin-like (1);	0.000000	0.30695	U	0.009072	T	0.60301	0.2258	L	0.28740	0.885	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.53019	-0.8497	10	0.19590	T	0.45	.	11.0027	0.47616	0.0:0.9144:0.0:0.0856	.	1535	Q6V0I7	FAT4_HUMAN	I	1535	ENSP00000377862:L1535I	ENSP00000377862:L1535I	L	+	1	0	FAT4	126461619	1.000000	0.71417	0.978000	0.43139	0.905000	0.53344	3.767000	0.55288	2.420000	0.82092	0.655000	0.94253	CTT		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	372	7	372	---	---	---	---	A	126242169	C	A	126242169	3	1	9	1	0	0	0	0	1	0	0	0	5692	681	24	1	4605	1	FAT4	4	126242169	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	12065248	126242169	64912107	256	495										
FAT4	79633	broad.mit.edu	37	chr4	126411433	126411433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaaagctggaagtcctgcgGggcatgtctgtgttctgagt	15	8	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.chr4:126411433G>T	ENST00000394329.3	+	17	13469	c.13456G>T	c.(13456-13458)Ggg>Tgg	p.G4486W	FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	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)			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						AAGTCCTGCGGGGCATGTCTG	0.617																																						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.(13456-13458)Ggg>Tgg		FAT atypical cadherin 4							88	86	87					4																	126411433		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411433G>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.13456G>T	4.37:g.126411433G>T	ENSP00000377862:p.Gly4486Trp		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	p.G4486W	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			17	13469	+			4486					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13456G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410443	0.25465	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76968	-0.9;-1.06	4.64	4.64	0.57946	.	0.256250	0.20532	U	0.090485	D	0.84656	0.5520	M	0.73217	2.22	0.34800	D	0.736641	D;D;D	0.71674	0.992;0.998;0.992	D;P;D	0.63113	0.911;0.87;0.911	D	0.87995	0.2752	10	0.44086	T	0.13	.	12.2344	0.54508	0.0851:0.0:0.9149:0.0	.	2727;4486;4485	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	4486;2727	ENSP00000377862:G4486W;ENSP00000335169:G2727W	ENSP00000335169:G2727W	G	+	1	0	FAT4	126630883	1.000000	0.71417	0.127000	0.21898	0.003000	0.03518	5.120000	0.64685	2.395000	0.81488	0.561000	0.74099	GGG		0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	162	5	162	---	---	---	---	T	126411433	G	T	126411433	3	4	9	1	0	0	0	0	1	0	0	0	5692	1232	43	1	13522	1	FAT4	4	126411433	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	169264	126411433	64742843	257	496										
PCDH18	54510	broad.mit.edu	37	chr4	138449941	138449941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtcttggctgatattgccCctggtgaagcattgaaagaa	12	7	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.chr4:138449941C>A	ENST00000344876.4	-	2	2907	c.2521G>T	c.(2521-2523)Ggg>Tgg	p.G841W	PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W|PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					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)					TGATATTGCCCCTGGTGAAGC	0.403																																						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.(2521-2523)Ggg>Tgg		protocadherin 18							124	134	130					4																	138449941		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449941C>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.2521G>T	4.37:g.138449941C>A	ENSP00000355082:p.Gly841Trp		Somatic				PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W	p.G841W	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	Q9HCL0	PCD18_HUMAN			2	2907	-	all_hematologic(180;0.24)		841					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2521G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798370	0.90538	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.60672	0.42;0.28;0.17;0.85;0.88	5.03	5.03	0.67393	.	0.000000	0.43919	D	0.000515	T	0.76212	0.3956	M	0.72894	2.215	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;0.995;0.975;0.995	T	0.78853	-0.2040	10	0.87932	D	0	.	18.5701	0.91132	0.0:1.0:0.0:0.0	.	21;620;840;841	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	W	841;840;620;52;21	ENSP00000355082:G841W;ENSP00000390688:G840W;ENSP00000425903:G620W;ENSP00000424269:G52W;ENSP00000425647:G21W	ENSP00000355082:G841W	G	-	1	0	PCDH18	138669391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.607000	0.88179	0.655000	0.94253	GGG		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		7	300	7	300	---	---	---	---	A	138449941	C	A	138449941	3	1	9	1	0	0	0	0	1	0	0	0	11513	623	22	1	898	1	PCDH18	4	138449941	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	12038508	138449941	52704335	258	497										
MAML3	55534	broad.mit.edu	37	chr4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccactcaccattccaaccCcctgcccagaggcaggttgc	8	18	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.chr4:140641171C>A	ENST00000509479.2	-	5	3579	c.2723G>T	c.(2722-2724)gGg>gTg	p.G908V	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)					CATTCCAACCCCCTGCCCAGA	0.557																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2722-2724)gGg>gTg		mastermind-like 3 (Drosophila)							187	191	189					4																	140641171		2000	4186	6186	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.chr4:140641171C>A	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.2723G>T	4.37:g.140641171C>A	ENSP00000421180:p.Gly908Val		Somatic				MGST2_ENST00000515137.1_Intron	p.G908V	NM_018717.4	NP_061187	WXS	Illumina GAIIx	Phase_I	Q96JK9	MAML3_HUMAN			5	3579	-	all_hematologic(180;0.162)		904			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2723G>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275141	0.59649	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.28895	1.59	5.81	5.81	0.92471	.	0.224633	0.35708	N	0.003036	T	0.31827	0.0809	M	0.62723	1.935	0.80722	D	1	B;B	0.29909	0.261;0.261	B;B	0.17979	0.02;0.02	T	0.05209	-1.0899	10	0.46703	T	0.11	.	15.4216	0.75015	0.0:0.7564:0.2436:0.0	.	908;904	E7EVW8;Q96JK9	.;MAML3_HUMAN	V	908;215	ENSP00000421180:G908V	ENSP00000421180:G908V	G	-	2	0	MAML3	140860621	0.975000	0.34042	0.956000	0.39512	0.980000	0.70556	3.012000	0.49575	2.738000	0.93877	0.655000	0.94253	GGG		0.557	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	390	7	390	---	---	---	---	A	140641171	C	A	140641171	3	1	9	1	0	0	0	0	1	0	0	0	9207	623	22	1	697	1	MAML3	4	140641171	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2191230	140641171	50513105	259	498										
FGG	2266	broad.mit.edu	37	chr4	155526061	155526061	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtctgacctgtttggctccCcccaggtggtgttgctgtcc	13	13	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.chr4:155526061C>A	ENST00000336098.3	-	9	1325	c.1287G>T	c.(1285-1287)ggG>ggT	p.G429G	FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000407946.1_Silent_p.G437G|FGG_ENST00000404648.3_Silent_p.G429G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	429	Platelet aggregation and Staphylococcus clumping.				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)			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)	GTTTGGCTCCCCCCAGGTGGT	0.448																																						ENST00000404648.3																			0				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.(1285-1287)ggG>ggT		fibrinogen gamma chain	Sucralfate(DB00364)						190	181	184					4																	155526061		2203	4300	6503	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.chr4:155526061C>A		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.1287G>T	4.37:g.155526061C>A			Somatic				FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000336098.3_Silent_p.G429G|FGG_ENST00000407946.1_Silent_p.G437G	p.G429G	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1526	-	all_hematologic(180;0.215)	Renal(120;0.0458)	429			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.1287G>T	CCDS3788.1																																																																																				0.448	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		8	358	8	358	---	---	---	---	A	155526061	C	A	155526061	2	1	9	1	0	0	0	0	0	0	0	1	5870	610	22	1		1	FGG	4	155526061	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	14884890	155526061	35628215	260	499										
GLRB	2743	broad.mit.edu	37	chr4	158073995	158073995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctctttgggtttgcttccCtggtggagtatgcagttgtc	12	8	1	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.chr4:158073995C>A	ENST00000264428.4	+	9	1300	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.L344M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	344					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|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)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTTTGCTTCCCTGGTGGAGTA	0.488																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1030-1032)Ctg>Atg		glycine receptor, beta	Glycine(DB00145)						155	144	148					4																	158073995		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158073995C>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1030C>A	4.37:g.158073995C>A	ENSP00000264428:p.Leu344Met		Somatic				GLRB_ENST00000509282.1_Missense_Mutation_p.L344M|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron	p.L344M	NM_000824.4	NP_000815.1	WXS	Illumina GAIIx	Phase_I	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	9	1300	+	all_hematologic(180;0.24)	Renal(120;0.0458)	344					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.1030C>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551016	0.65311	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.87334	-2.24;-2.24	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.218846	0.39544	N	0.001323	D	0.92338	0.7569	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.92789	0.6247	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9293:0.0:0.0707	.	344	P48167	GLRB_HUMAN	M	344	ENSP00000264428:L344M;ENSP00000427186:L344M	ENSP00000264428:L344M	L	+	1	2	GLRB	158293445	0.950000	0.32346	0.993000	0.49108	0.896000	0.52359	2.168000	0.42424	2.642000	0.89623	0.650000	0.86243	CTG		0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		5	168	5	168	---	---	---	---	A	158073995	C	A	158073995	3	1	9	1	0	0	0	0	1	0	0	0	6458	680	24	1	1060	1	GLRB	4	158073995	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2547934	158073995	33080281	261	500										
NAF1	92345	broad.mit.edu	37	chr4	164050386	164050386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctgccatggcaagatcgaGggtatctggccctggaaaat	13	10	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.chr4:164050386G>T	ENST00000274054.2	-	8	1341	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	383					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)				GCAAGATCGAGGGTATCTGGC	0.438																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1147-1149)cCt>cAt		nuclear assembly factor 1 ribonucleoprotein							112	120	117					4																	164050386		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050386G>T		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.1148C>A	4.37:g.164050386G>T	ENSP00000274054:p.Pro383His		Somatic				NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P383H	NM_138386.2	NP_612395.2	WXS	Illumina GAIIx	Phase_I	Q96HR8	NAF1_HUMAN			8	1341	-	all_hematologic(180;0.166)	Prostate(90;0.109)	383					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1148C>A	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	2.241	-0.373850	0.05034	.	.	ENSG00000145414	ENST00000274054	T	0.48836	0.8	4.61	3.77	0.43336	.	0.447919	0.23364	N	0.048985	T	0.32194	0.0821	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.14448	-1.0472	10	0.31617	T	0.26	-6.3255	7.7996	0.29166	0.1962:0.0:0.8038:0.0	.	383	Q96HR8	NAF1_HUMAN	H	383	ENSP00000274054:P383H	ENSP00000274054:P383H	P	-	2	0	NAF1	164269836	0.957000	0.32711	0.028000	0.17463	0.004000	0.04260	3.153000	0.50685	1.252000	0.44001	0.591000	0.81541	CCT		0.438	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		5	165	5	165	---	---	---	---	T	164050386	G	T	164050386	3	4	9	1	0	0	0	0	1	0	0	0	10140	1000	35	1	481	1	NAF1	4	164050386	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5976391	164050386	27103890	262	501										
FAT1	2195	broad.mit.edu	37	chr4	187541626	187541626	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgctgctcacgatcgaaGggcgtgccagtggttgacag	14	11	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.chr4:187541626G>T	ENST00000441802.2	-	10	6323	c.6114C>A	c.(6112-6114)ccC>ccA	p.P2038P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2038	Cadherin 18. {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						CACGATCGAAGGGCGTGCCAG	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.(6112-6114)ccC>ccA		FAT atypical cadherin 1							187	185	186					4																	187541626		1939	4130	6069	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.chr4:187541626G>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.6114C>A	4.37:g.187541626G>T		HNSCC(5;0.00058)	Somatic					p.P2038P	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			10	6323	-			2038			Cadherin 18.			Silent	SNP	ENST00000441802.2	37	c.6114C>A	CCDS47177.1																																																																																				0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	407	7	407	---	---	---	---	T	187541626	G	T	187541626	2	4	9	1	0	0	0	0	0	0	0	1	5689	987	35	1		1	FAT1	4	187541626	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	23491240	187541626	3612650	263	502										
SDHA	6389	broad.mit.edu	37	chr5	233690	233690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtttatggagcgatacgccCctgtcgcgaaggacctggcg	15	11	0	0	rs373509391		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.chr5:233690C>A	ENST00000264932.6	+	8	1109	c.994C>A	c.(994-996)Cct>Act	p.P332T	SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	332					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)	GCGATACGCCCCTGTCGCGAA	0.527									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.(994-996)Cct>Act		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						175	155	162					5																	233690		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.chr5:233690C>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.994C>A	5.37:g.233690C>A	ENSP00000264932:p.Pro332Thr		Somatic				SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T	p.P332T	NM_004168.2	NP_004159.2	WXS	Illumina GAIIx	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		8	1109	+			332					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.994C>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	19.12	3.765903	0.69878	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.47528	0.84;0.84;0.84	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.79179	0.4402	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.981;0.991;0.991;0.991	D;D;D;D;D	0.75484	0.986;0.973;0.937;0.97;0.97	D	0.87055	0.2149	10	0.87932	D	0	.	15.0787	0.72096	0.0:1.0:0.0:0.0	.	284;332;332;332;338	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	332;187;332;284	ENSP00000264932:P332T;ENSP00000426514:P332T;ENSP00000427703:P284T	ENSP00000264932:P332T	P	+	1	0	SDHA	286690	1.000000	0.71417	0.392000	0.26245	0.548000	0.35241	6.951000	0.75983	2.195000	0.70347	0.650000	0.86243	CCT		0.527	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		6	242	6	242	---	---	---	---	A	233690	C	A	233690	3	1	9	1	0	0	0	0	1	0	0	0	13963	623	22	1	1024	1	SDHA	5	233690	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		233690	180681570	264	503										
CEP72	55722	broad.mit.edu	37	chr5	635690	635690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccacacacgtacttcaccCcacacccaggtacttacgcg	7	18	1	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.chr5:635690C>A	ENST00000264935.5	+	6	985	c.895C>A	c.(895-897)Cca>Aca	p.P299T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	299					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)			GTACTTCACCCCACACCCAGG	0.532																																						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.(895-897)Cca>Aca		centrosomal protein 72kDa							54	60	58					5																	635690		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:635690C>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.895C>A	5.37:g.635690C>A	ENSP00000264935:p.Pro299Thr		Somatic				CEP72_ENST00000444221.1_3'UTR	p.P299T	NM_018140.3	NP_060610.2	WXS	Illumina GAIIx	Phase_I	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		6	985	+			299					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.895C>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.691	0.907412	0.17833	.	.	ENSG00000112877	ENST00000264935	T	0.09163	3.01	3.76	0.662	0.17880	.	0.599365	0.16702	N	0.203066	T	0.06416	0.0165	N	0.22421	0.69	0.09310	N	0.999999	B	0.14438	0.01	B	0.08055	0.003	T	0.30327	-0.9982	10	0.62326	D	0.03	-0.9605	4.9821	0.14170	0.3675:0.5242:0.0:0.1084	.	299	Q9P209	CEP72_HUMAN	T	299	ENSP00000264935:P299T	ENSP00000264935:P299T	P	+	1	0	CEP72	688690	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.127000	0.15790	-0.007000	0.14345	0.563000	0.77884	CCA		0.532	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	115	5	115	---	---	---	---	A	635690	C	A	635690	3	1	9	1	0	0	0	0	1	0	0	0	3260	623	22	1	917	1	CEP72	5	635690	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	402000	635690	180279570	265	504										
CDH9	1007	broad.mit.edu	37	chr5	26881607	26881607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgccaatgtcaaaagcttGggtatcttcttccccgccgc	9	13	3	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.chr5:26881607G>T	ENST00000231021.4	-	12	2180	c.2008C>A	c.(2008-2010)Caa>Aaa	p.Q670K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					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						TCAAAAGCTTGGGTATCTTCT	0.433																																					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.(2008-2010)Caa>Aaa		cadherin 9, type 2 (T1-cadherin)							183	183	183					5																	26881607		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.chr5:26881607G>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.2008C>A	5.37:g.26881607G>T	ENSP00000231021:p.Gln670Lys		Somatic					p.Q670K	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			12	2180	-			670					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2008C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759262	0.69763	.	.	ENSG00000113100	ENST00000231021	T	0.76448	-1.02	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	M	0.89840	3.065	0.49483	D	0.999794	D;D	0.60160	0.987;0.971	D;D	0.67382	0.95;0.951	D	0.91460	0.5188	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	263;670	B4DFP0;Q9ULB4	.;CADH9_HUMAN	K	670	ENSP00000231021:Q670K	.	Q	-	1	0	CDH9	26917364	1.000000	0.71417	0.945000	0.38365	0.918000	0.54935	7.790000	0.85794	2.447000	0.82792	0.557000	0.71058	CAA		0.433	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	390	6	390	---	---	---	---	T	26881607	G	T	26881607	3	4	9	1	0	0	0	0	1	0	0	0	3117	1357	47	1	365	1	CDH9	5	26881607	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	26245917	26881607	154033653	266	505										
RAI14	26064	broad.mit.edu	37	chr5	34821917	34821917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaagcaaaagttgcttccCttaccttacacaataaggag	7	10	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.chr5:34821917C>A	ENST00000265109.3	+	14	1362	c.1075C>A	c.(1075-1077)Ctt>Att	p.L359I	RAI14_ENST00000506376.1_Missense_Mutation_p.L351I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000512629.1_Missense_Mutation_p.L330I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	359						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)					AGTTGCTTCCCTTACCTTACA	0.368																																						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.(1075-1077)Ctt>Att		retinoic acid induced 14							102	98	99					5																	34821917		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34821917C>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.1075C>A	5.37:g.34821917C>A	ENSP00000265109:p.Leu359Ile		Somatic				RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I	p.L359I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			14	1362	+	all_lung(31;0.000191)		359					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1075C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123647	0.77436	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.52526	0.67;0.72;0.67;0.67;0.66;0.71;0.7	5.69	5.69	0.88448	.	.	.	.	.	T	0.54532	0.1864	L	0.34521	1.04	0.43740	D	0.996235	D;D;D;D	0.89917	0.998;0.997;1.0;0.997	D;D;D;D	0.85130	0.996;0.991;0.997;0.991	T	0.43327	-0.9398	9	0.19147	T	0.46	-6.7957	12.6481	0.56746	0.0:0.8823:0.0:0.1177	.	351;330;362;359	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	359;330;359;359;362;351;352	ENSP00000265109:L359I;ENSP00000422377:L330I;ENSP00000388725:L359I;ENSP00000422942:L359I;ENSP00000427123:L362I;ENSP00000423854:L351I;ENSP00000380591:L352I	ENSP00000265109:L359I	L	+	1	0	RAI14	34857674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.955000	0.29188	2.688000	0.91661	0.650000	0.86243	CTT		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		6	238	6	238	---	---	---	---	A	34821917	C	A	34821917	3	1	9	1	0	0	0	0	1	0	0	0	13008	681	24	1	1190	1	RAI14	5	34821917	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7940310	34821917	146093343	267	506										
PRLR	5618	broad.mit.edu	37	chr5	35065849	35065849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccaccagcatgaaaatagGggattttgccttccatgctt	8	10	0	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.chr5:35065849G>T	ENST00000382002.5	-	10	1637	c.1211C>A	c.(1210-1212)cCc>cAc	p.P404H	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	404					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)	ATGAAAATAGGGGATTTTGCC	0.493																																						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.(1210-1212)cCc>cAc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						153	160	158					5																	35065849		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.chr5:35065849G>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.1211C>A	5.37:g.35065849G>T	ENSP00000371432:p.Pro404His		Somatic				PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron	p.P404H	NM_000949.5	NP_000940.1	WXS	Illumina GAIIx	Phase_I	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1637	-	all_lung(31;3.83e-05)		404					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1211C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116059	0.20795	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.75367	-0.93;-0.93;-0.93	5.84	3.03	0.35002	.	0.557434	0.21639	N	0.071376	D	0.85500	0.5711	M	0.90814	3.15	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.68621	0.91;0.959	T	0.75994	-0.3121	10	0.72032	D	0.01	-0.0907	6.8754	0.24143	0.143:0.0:0.6244:0.2326	.	404;303	P16471;P16471-2	PRLR_HUMAN;.	H	303;404;303	ENSP00000339213:P303H;ENSP00000371432:P404H;ENSP00000422556:P303H	ENSP00000339213:P303H	P	-	2	0	PRLR	35101606	0.166000	0.22962	0.000000	0.03702	0.035000	0.12851	1.583000	0.36579	0.347000	0.23924	0.563000	0.77884	CCC		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			6	251	6	251	---	---	---	---	T	35065849	G	T	35065849	3	4	9	1	0	0	0	0	1	0	0	0	12531	1232	43	1	661	1	PRLR	5	35065849	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	243932	35065849	145849411	268	507										
C5orf33	133686	broad.mit.edu	37	chr5	36217949	36217949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacagggtttatgccagtccCttcaaggtataacctgattc	8	10	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.chr5:36217949C>A	ENST00000381937.4	-	6	681	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	NADK2_ENST00000397338.1_Missense_Mutation_p.G65W|NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	228					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)										ATGCCAGTCCCTTCAAGGTAT	0.388																																						ENST00000397338.1																			0											c.(193-195)Ggg>Tgg		NAD kinase 2, mitochondrial							141	124	130					5																	36217949		2203	4300	6503	SO:0001583	missense	133686							g.chr5:36217949C>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.682G>T	5.37:g.36217949C>A	ENSP00000371362:p.Gly228Trp		Somatic				NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000381937.4_Missense_Mutation_p.G228W	p.G65W			WXS	Illumina GAIIx	Phase_I					6	414	-								B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	c.193G>T	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096824	0.94197	.	.	ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504;ENST00000511088	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.08	6.08	0.98989	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.79475	2.455	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	0.69584	-0.5106	10	0.87932	D	0	-18.811	20.2672	0.98462	0.0:1.0:0.0:0.0	.	65;228;228	B7Z8V7;Q4G0N4-2;Q4G0N4	.;.;NAKD1_HUMAN	W	65;65;228;65;228;65	ENSP00000380499:G65W;ENSP00000282512:G65W;ENSP00000371362:G228W;ENSP00000422250:G65W;ENSP00000421029:G228W;ENSP00000426084:G65W	ENSP00000282512:G65W	G	-	1	0	NADKD1	36253706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.938000	0.75904	2.894000	0.99253	0.591000	0.81541	GGG		0.388	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		5	178	5	178	---	---	---	---	A	36217949	C	A	36217949	3	1	9	1	0	0	0	0	1	0	0	0	2292	681	24	1	674	1	C5orf33	5	36217949	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1152100	36217949	144697311	269	508										
EGFLAM	133584	broad.mit.edu	37	chr5	38427338	38427338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgctttgactgtggctctGggaccggtgtcctcaggtga	14	11	2	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.chr5:38427338G>T	ENST00000354891.3	+	14	2384	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G680W|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	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)					CTGTGGCTCTGGGACCGGTGT	0.502																																					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.(2038-2040)Ggg>Tgg		EGF-like, fibronectin type III and laminin G domains							148	151	150					5																	38427338		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427338G>T	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.2038G>T	5.37:g.38427338G>T	ENSP00000346964:p.Gly680Trp		Somatic				EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W	p.G680W	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			14	2384	+	all_lung(31;0.000385)		680			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2038G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530691	0.85706	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.82433	-0.79;-0.79;-0.79;-1.61	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.106321	0.64402	D	0.000003	D	0.94268	0.8159	H	0.95328	3.655	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	0.95437	0.8522	10	0.87932	D	0	-5.1667	19.6594	0.95859	0.0:0.0:1.0:0.0	.	446;680;680	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	W	680;680;446;46;446	ENSP00000346964:G680W;ENSP00000313084:G680W;ENSP00000337607:G446W;ENSP00000380385:G46W	ENSP00000313084:G680W	G	+	1	0	EGFLAM	38463095	1.000000	0.71417	0.790000	0.31976	0.993000	0.82548	9.395000	0.97266	2.657000	0.90304	0.561000	0.74099	GGG		0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		6	313	6	313	---	---	---	---	T	38427338	G	T	38427338	3	4	9	1	0	0	0	0	1	0	0	0	4966	1348	47	1	2106	1	EGFLAM	5	38427338	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2209389	38427338	142487922	270	509										
LIFR	3977	broad.mit.edu	37	chr5	38481998	38481998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgtggcttatagcctgccCctcctacagggtcattttct	8	13	3	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.chr5:38481998C>A	ENST00000263409.4	-	20	3155	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	998					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)					ATAGCCTGCCCCTCCTACAGG	0.458			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.(2992-2994)gGg>gTg		leukemia inhibitory factor receptor alpha							102	105	104					5																	38481998		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.chr5:38481998C>A	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.2993G>T	5.37:g.38481998C>A	ENSP00000263409:p.Gly998Val		Somatic				LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	p.G998V	NM_002310.5	NP_002301.1	WXS	Illumina GAIIx	Phase_I	P42702	LIFR_HUMAN			20	3155	-	all_lung(31;0.00021)		998					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2993G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.319	0.823950	0.16678	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	6.06	3.16	0.36331	.	0.658481	0.16402	N	0.215983	T	0.38134	0.1029	N	0.16478	0.41	0.18873	N	0.999982	B	0.09022	0.002	B	0.10450	0.005	T	0.15492	-1.0435	10	0.09590	T	0.72	-3.5267	12.6725	0.56874	0.1119:0.4835:0.4046:0.0	.	998	P42702	LIFR_HUMAN	V	998	ENSP00000263409:G998V;ENSP00000398368:G998V	ENSP00000263409:G998V	G	-	2	0	LIFR	38517755	0.001000	0.12720	0.026000	0.17262	0.894000	0.52154	0.402000	0.20965	0.355000	0.24131	0.650000	0.86243	GGG		0.458	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		6	214	6	214	---	---	---	---	A	38481998	C	A	38481998	3	1	9	1	0	0	0	0	1	0	0	0	8780	623	22	1	304	1	LIFR	5	38481998	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	54660	38481998	142433262	271	510										
HEATR7B2	133558	broad.mit.edu	37	chr5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctttgctgaatttctcaaGggctgcatttaaaacacaca	8	9	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.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	155																	AATTTCTCAAGGGCTGCATTT	0.398																																						ENST00000399564.4																			0											c.(463-465)Ctt>Att		maestro heat-like repeat family member 2B							82	77	78					5																	41061824		1833	4092	5925	SO:0001583	missense	133558							g.chr5:41061824G>T		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.463C>A	5.37:g.41061824G>T	ENSP00000382476:p.Leu155Ile		Somatic					p.L155I	NM_173489.4	NP_775760.3	WXS	Illumina GAIIx	Phase_I					6	913	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.463C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333017	0.81801	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.51477	D	0.000097	T	0.22126	0.0533	M	0.63843	1.955	0.34708	D	0.727412	D	0.71674	0.998	D	0.83275	0.996	T	0.03933	-1.0991	10	0.35671	T	0.21	.	15.5834	0.76462	0.0:0.0:1.0:0.0	.	155	Q7Z745	HTRB2_HUMAN	I	155	ENSP00000382476:L155I	ENSP00000382476:L155I	L	-	1	0	HEATR7B2	41097581	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.428000	0.59894	2.756000	0.94617	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	75	4	75	---	---	---	---	T	41061824	G	T	41061824	3	4	9	1	0	0	0	0	1	0	0	0	7035	1000	35	1	4442	1	HEATR7B2	5	41061824	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2579826	41061824	139853436	272	511										
C6	729	broad.mit.edu	37	chr5	41195902	41195902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgttacatacccattgccCatcaactgtacactagggat	7	11	1	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.chr5:41195902C>A	ENST00000263413.3	-	5	843	c.579G>T	c.(577-579)atG>atT	p.M193I	C6_ENST00000337836.5_Missense_Mutation_p.M193I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	193	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)				ACCCATTGCCCATCAACTGTA	0.433																																						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.(577-579)atG>atT		complement component 6							279	247	258					5																	41195902		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41195902C>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.579G>T	5.37:g.41195902C>A	ENSP00000263413:p.Met193Ile		Somatic				C6_ENST00000337836.5_Missense_Mutation_p.M193I	p.M193I	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			5	843	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	193			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.579G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	9.718	1.158788	0.21454	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.59083	0.29;0.29	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (1);	0.116513	0.85682	D	0.000000	T	0.47266	0.1436	L	0.35487	1.065	0.54753	D	0.999988	B	0.06786	0.001	B	0.06405	0.002	T	0.40251	-0.9573	10	0.11485	T	0.65	-21.6737	18.4936	0.90856	0.0:1.0:0.0:0.0	.	193	P13671	CO6_HUMAN	I	193	ENSP00000338861:M193I;ENSP00000263413:M193I	ENSP00000263413:M193I	M	-	3	0	C6	41231659	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.981000	0.40628	2.657000	0.90304	0.650000	0.86243	ATG		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			6	256	6	256	---	---	---	---	A	41195902	C	A	41195902	3	1	9	1	0	0	0	0	1	0	0	0	2315	594	21	1	2281	1	C6	5	41195902	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	134078	41195902	139719358	273	512										
NNT	23530	broad.mit.edu	37	chr5	43649338	43649338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggcttggctggcattgtgGggtatcataccgtctgggga	16	7	2	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.chr5:43649338G>T	ENST00000264663.5	+	11	1755	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	NNT_ENST00000512996.2_Missense_Mutation_p.G381W|NNT_ENST00000344920.4_Missense_Mutation_p.G512W	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	512					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)					TGGCATTGTGGGGTATCATAC	0.502																																						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.(1534-1536)Ggg>Tgg		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						303	281	289					5																	43649338		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.chr5:43649338G>T	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.1534G>T	5.37:g.43649338G>T	ENSP00000264663:p.Gly512Trp		Somatic				NNT_ENST00000344920.4_Missense_Mutation_p.G512W|NNT_ENST00000512996.2_Missense_Mutation_p.G381W	p.G512W	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			11	1755	+	Lung NSC(6;2.58e-06)		512					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1534G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121406	0.77436	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92099	-2.97;-2.97;-2.97	5.24	5.24	0.73138	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99761	1.1021	10	0.87932	D	0	-4.5764	18.8646	0.92287	0.0:0.0:1.0:0.0	.	512	Q13423	NNTM_HUMAN	W	27;512;512;381	ENSP00000264663:G512W;ENSP00000343873:G512W;ENSP00000426343:G381W	ENSP00000264663:G512W	G	+	1	0	NNT	43685095	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.431000	0.97494	2.464000	0.83262	0.644000	0.83932	GGG		0.502	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		7	442	7	442	---	---	---	---	T	43649338	G	T	43649338	3	4	9	1	0	0	0	0	1	0	0	0	10510	1232	43	1	1572	1	NNT	5	43649338	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2453436	43649338	137265922	274	513										
ITGA1	3672	broad.mit.edu	37	chr5	52183671	52183671	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggcattcacggaagcccgGggtgcccgaagaggagttaa	16	9	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.chr5:52183671G>T	ENST00000282588.6	+	8	1256	c.798G>T	c.(796-798)cgG>cgT	p.R266R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	266	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				CGGAAGCCCGGGGTGCCCGAA	0.398																																						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.(796-798)cgG>cgT		integrin, alpha 1							93	94	94					5																	52183671		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.chr5:52183671G>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.798G>T	5.37:g.52183671G>T			Somatic					p.R266R	NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			8	1256	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	266			VWFA.		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.798G>T	CCDS3955.1																																																																																				0.398	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		5	131	5	131	---	---	---	---	T	52183671	G	T	52183671	2	4	9	1	0	0	0	0	0	0	0	1	7872	1219	43	1		1	ITGA1	5	52183671	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8534333	52183671	128731589	275	514										
TMEM171	134285	broad.mit.edu	37	chr5	72419699	72419699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctttctctgcagatcatgGggcccttgattgtgcttgtg	11	10	2	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.chr5:72419699G>T	ENST00000454765.2	+	2	972	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W			Q8WVE6	TM171_HUMAN	transmembrane protein 171	167						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)		GCAGATCATGGGGCCCTTGAT	0.547																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(499-501)Ggg>Tgg		transmembrane protein 171							161	161	161					5																	72419699		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419699G>T	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.499G>T	5.37:g.72419699G>T	ENSP00000415030:p.Gly167Trp		Somatic				TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W	p.G167W			WXS	Illumina GAIIx	Phase_I	Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	972	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	167					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.499G>T	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117286	0.77323	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.46819	0.86;0.86	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.62048	0.2396	L	0.36672	1.1	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64968	-0.6282	10	0.87932	D	0	-21.0456	19.0547	0.93058	0.0:0.0:1.0:0.0	.	167;167	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	W	167	ENSP00000415030:G167W;ENSP00000287773:G167W	ENSP00000287773:G167W	G	+	1	0	TMEM171	72455455	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.668000	0.74457	2.512000	0.84698	0.462000	0.41574	GGG		0.547	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		5	179	5	179	---	---	---	---	T	72419699	G	T	72419699	3	4	9	1	0	0	0	0	1	0	0	0	16085	1232	43	1	501	1	TMEM171	5	72419699	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	20236028	72419699	108495561	276	515										
TMEM171	134285	broad.mit.edu	37	chr5	72427549	72427549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctatcttctgagccttccCcaccgtaaactatggactct	5	15	4	1	rs17853415		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.chr5:72427549C>A	ENST00000454765.2	+	4	1440	c.967C>A	c.(967-969)Cca>Aca	p.P323T	TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T|RP11-232L2.2_ENST00000508255.1_RNA			Q8WVE6	TM171_HUMAN	transmembrane protein 171	323				P -> S (in Ref. 2; AAH35310). {ECO:0000305}.		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)		TGAGCCTTCCCCACCGTAAAC	0.353																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(967-969)Cca>Aca		transmembrane protein 171							123	121	122					5																	72427549		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72427549C>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.967C>A	5.37:g.72427549C>A	ENSP00000415030:p.Pro323Thr		Somatic				TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T	p.P323T			WXS	Illumina GAIIx	Phase_I	Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	4	1440	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	323	P -> S (in Ref. 2; AAH35310).				Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.967C>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902819	0.33628	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.24908	1.83;1.83	5.22	1.3	0.21679	.	0.576874	0.15607	N	0.253573	T	0.22044	0.0531	M	0.65975	2.015	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.35525	-0.9785	10	0.62326	D	0.03	-0.2212	1.2909	0.02060	0.1393:0.3447:0.2716:0.2444	.	322;323	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	T	323;322	ENSP00000415030:P323T;ENSP00000287773:P322T	ENSP00000287773:P322T	P	+	1	0	TMEM171	72463305	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	0.305000	0.19254	-0.045000	0.13468	-0.253000	0.11424	CCA		0.353	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		6	329	6	329	---	---	---	---	A	72427549	C	A	72427549	3	1	9	1	0	0	0	0	1	0	0	0	16085	623	22	1	977	1	TMEM171	5	72427549	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7850	72427549	108487711	277	516										
CRHBP	1393	broad.mit.edu	37	chr5	76259235	76259235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaggaactggattggaccCttccaagatgacgcctttag	13	9	0	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.chr5:76259235C>A	ENST00000274368.4	+	6	1183	c.761C>A	c.(760-762)cCt>cAt	p.P254H	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	254					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)		GGATTGGACCCTTCCAAGATG	0.453																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(760-762)cCt>cAt		corticotropin releasing hormone binding protein							188	188	188					5																	76259235		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259235C>A	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.761C>A	5.37:g.76259235C>A	ENSP00000274368:p.Pro254His		Somatic				CRHBP_ENST00000514258.1_3'UTR	p.P254H	NM_001882.3	NP_001873.2	WXS	Illumina GAIIx	Phase_I	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1183	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	254					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.761C>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701247	0.88924	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.217717	0.48286	D	0.000195	T	0.78310	0.4263	M	0.72118	2.19	0.80722	D	1	D	0.65815	0.995	P	0.62649	0.905	T	0.79619	-0.1728	9	0.72032	D	0.01	-24.5176	19.7713	0.96366	0.0:1.0:0.0:0.0	.	254	P24387	CRHBP_HUMAN	H	254	.	ENSP00000274368:P254H	P	+	2	0	CRHBP	76294991	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.029000	0.76477	2.662000	0.90505	0.643000	0.83706	CCT		0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		7	408	7	408	---	---	---	---	A	76259235	C	A	76259235	3	1	9	1	0	0	0	0	1	0	0	0	3870	681	24	1	783	1	CRHBP	5	76259235	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3831686	76259235	104656025	278	517										
AGGF1	55109	broad.mit.edu	37	chr5	76349809	76349809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgaaaactaaatgtgaccCttacgtacttgagcatggag	10	9	0	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.chr5:76349809C>A	ENST00000312916.7	+	10	1869	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	496					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)		AAATGTGACCCTTACGTACTT	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.(1486-1488)cCt>cAt		angiogenic factor with G patch and FHA domains 1							138	131	133					5																	76349809		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.chr5:76349809C>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.1487C>A	5.37:g.76349809C>A	ENSP00000316109:p.Pro496His		Somatic					p.P496H	NM_018046.4	NP_060516.2	WXS	Illumina GAIIx	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	10	1869	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	496					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.1487C>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530152	0.85706	.	.	ENSG00000164252	ENST00000312916	D	0.88201	-2.35	5.21	5.21	0.72293	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94399	0.7621	10	0.72032	D	0.01	1.353	18.75	0.91810	0.0:1.0:0.0:0.0	.	496	Q8N302	AGGF1_HUMAN	H	496	ENSP00000316109:P496H	ENSP00000316109:P496H	P	+	2	0	AGGF1	76385565	1.000000	0.71417	0.930000	0.37139	0.973000	0.67179	7.762000	0.85270	2.427000	0.82271	0.462000	0.41574	CCT		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		6	232	6	232	---	---	---	---	A	76349809	C	A	76349809	3	1	9	1	0	0	0	0	1	0	0	0	382	681	24	1	1525	1	AGGF1	5	76349809	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	90574	76349809	104565451	279	518										
WDR41	55255	broad.mit.edu	37	chr5	76734163	76734163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctatacacgtataaaccCcttccaactgcagcaaatac	5	13	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.chr5:76734163C>A	ENST00000296679.4	-	10	1281	c.906G>T	c.(904-906)agG>agT	p.R302S	WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	302						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CGTATAAACCCCTTCCAACTG	0.458																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(904-906)agG>agT		WD repeat domain 41							126	112	117					5																	76734163		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76734163C>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.906G>T	5.37:g.76734163C>A	ENSP00000296679:p.Arg302Ser		Somatic				WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	p.R302S	NM_018268.2	NP_060738.2	WXS	Illumina GAIIx	Phase_I	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	10	1281	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	302					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.906G>T	CCDS4038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.386004|2.386004	0.42308|0.42308	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000511630|ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791	.|T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;0.1;2.33	5.75|5.75	5.75|5.75	0.90469|0.90469	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.249412	.|0.46145	.|D	.|0.000306	T|T	0.50820|0.50820	0.1638|0.1638	L|L	0.43152|0.43152	1.355|1.355	0.43936|0.43936	D|D	0.996593|0.996593	.|B;B;B	.|0.22346	.|0.068;0.068;0.002	.|B;B;B	.|0.15870	.|0.014;0.014;0.0	T|T	0.41752|0.41752	-0.9491|-0.9491	5|10	.|0.22706	.|T	.|0.39	-7.6544|-7.6544	10.7396|10.7396	0.46145|0.46145	0.0:0.8567:0.0:0.1433|0.0:0.8567:0.0:0.1433	.|.	.|247;48;302	.|B4DT55;B4E2L4;Q9HAD4	.|.;.;WDR41_HUMAN	V|S	128|302;48;237;247;73;94	.|ENSP00000296679:R302S;ENSP00000392931:R48S;ENSP00000426499:R237S;ENSP00000424287:R247S;ENSP00000427291:R73S;ENSP00000423540:R94S	.|ENSP00000296679:R302S	G|R	-|-	2|3	0|2	WDR41|WDR41	76769919|76769919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.648000|0.648000	0.24828|0.24828	2.872000|2.872000	0.98467|0.98467	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.458	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		8	207	8	207	---	---	---	---	A	76734163	C	A	76734163	3	1	9	1	0	0	0	0	1	0	0	0	17291	622	22	1	489	1	WDR41	5	76734163	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	384354	76734163	104181097	280	519										
VCAN	1462	broad.mit.edu	37	chr5	82833038	82833038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactgatgtgacaaccaccCcatctgtgcagtacataaat	6	12	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.chr5:82833038C>A	ENST00000265077.3	+	8	4781	c.4216C>A	c.(4216-4218)Cca>Aca	p.P1406T	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1406	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)	GACAACCACCCCATCTGTGCA	0.458																																						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.(4216-4218)Cca>Aca		versican							45	47	46					5																	82833038		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.chr5:82833038C>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.4216C>A	5.37:g.82833038C>A	ENSP00000265077:p.Pro1406Thr		Somatic				VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T|VCAN_ENST00000513016.1_3'UTR	p.P1406T	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4781	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1406			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4216C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909203	0.52439	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.97811	-4.55;-4.42;0.59	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	D	0.98682	0.9558	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99624	1.0984	10	0.87932	D	0	.	20.2284	0.98346	0.0:1.0:0.0:0.0	.	419;1406	P13611-2;P13611	.;CSPG2_HUMAN	T	1406;419;419	ENSP00000265077:P1406T;ENSP00000340062:P419T;ENSP00000426251:P419T	ENSP00000265077:P1406T	P	+	1	0	VCAN	82868794	1.000000	0.71417	0.951000	0.38953	0.359000	0.29487	5.457000	0.66672	2.785000	0.95823	0.650000	0.86243	CCA		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	74	4	74	---	---	---	---	A	82833038	C	A	82833038	3	1	9	1	0	0	0	0	1	0	0	0	17135	623	22	1	4242	1	VCAN	5	82833038	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6098875	82833038	98082222	281	520										
FER	2241	broad.mit.edu	37	chr5	108521967	108521967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggagaccttcagcttagGggtttgtccgtaccctggaa	13	10	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.chr5:108521967G>T	ENST00000281092.4	+	19	2654	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	FER_ENST00000438717.2_Missense_Mutation_p.G582V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTCAGCTTAGGGGTTTGTCCG	0.488																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2269-2271)gGg>gTg		fer (fps/fes related) tyrosine kinase							263	239	247					5																	108521967		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108521967G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2270G>T	5.37:g.108521967G>T	ENSP00000281092:p.Gly757Val		Somatic				FER_ENST00000438717.2_Missense_Mutation_p.G582V	p.G757V	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	19	2654	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	757			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2270G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407192	0.83230	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.51574	0.7;0.7	6.02	5.15	0.70609	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047283	0.85682	D	0.000000	T	0.75140	0.3809	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81970	-0.0689	10	0.87932	D	0	-16.7372	15.2991	0.73933	0.0668:0.0:0.9332:0.0	.	757	P16591	FER_HUMAN	V	757;582	ENSP00000281092:G757V;ENSP00000394297:G582V	ENSP00000281092:G757V	G	+	2	0	FER	108549866	1.000000	0.71417	0.929000	0.37066	0.769000	0.43574	9.845000	0.99498	1.562000	0.49601	0.655000	0.94253	GGG		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		6	222	6	222	---	---	---	---	T	108521967	G	T	108521967	3	4	9	1	0	0	0	0	1	0	0	0	5813	1232	43	1	2336	1	FER	5	108521967	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	25688929	108521967	72393293	282	521										
FER	2241	broad.mit.edu	37	chr5	108523221	108523221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttataaacctgaaaatcgccCtaagttcagtgaacttcaga	6	9	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.chr5:108523221C>A	ENST00000281092.4	+	20	2798	c.2414C>A	c.(2413-2415)cCt>cAt	p.P805H	FER_ENST00000438717.2_Missense_Mutation_p.P630H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAATCGCCCTAAGTTCAGT	0.463																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2413-2415)cCt>cAt		fer (fps/fes related) tyrosine kinase							85	83	83					5																	108523221		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108523221C>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2414C>A	5.37:g.108523221C>A	ENSP00000281092:p.Pro805His		Somatic				FER_ENST00000438717.2_Missense_Mutation_p.P630H	p.P805H	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	20	2798	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	805			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2414C>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030289	0.93575	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.87491	-2.26;-2.26	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052915	0.85682	D	0.000000	D	0.96278	0.8786	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96841	0.9618	10	0.87932	D	0	-11.7691	20.452	0.99131	0.0:1.0:0.0:0.0	.	805	P16591	FER_HUMAN	H	805;630	ENSP00000281092:P805H;ENSP00000394297:P630H	ENSP00000281092:P805H	P	+	2	0	FER	108551120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.838000	0.97847	0.591000	0.81541	CCT		0.463	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		4	134	4	134	---	---	---	---	A	108523221	C	A	108523221	3	1	9	1	0	0	0	0	1	0	0	0	5813	681	24	1	2484	1	FER	5	108523221	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1254	108523221	72392039	283	522										
MAN2A1	4124	broad.mit.edu	37	chr5	109106195	109106195	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaggcagatttggttgtccCtggggagtccccccagaaac	14	11	0	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.chr5:109106195C>A	ENST00000261483.4	+	7	2201	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	383					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)		TTGGTTGTCCCTGGGGAGTCC	0.433																																						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.(1147-1149)ccC>ccA		mannosidase, alpha, class 2A, member 1							91	87	89					5																	109106195		2202	4300	6502	SO:0001819	synonymous_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.chr5:109106195C>A		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.1149C>A	5.37:g.109106195C>A			Somatic					p.P383P	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2201	+		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)	383					Q16767	Silent	SNP	ENST00000261483.4	37	c.1149C>A	CCDS34209.1																																																																																				0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			6	215	6	215	---	---	---	---	A	109106195	C	A	109106195	2	1	9	1	0	0	0	0	0	0	0	1	9214	668	24	1		1	MAN2A1	5	109106195	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	582974	109106195	71809065	284	523										
DCP2	167227	broad.mit.edu	37	chr5	112349073	112349073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttgctagaacatgctgaGggacagcccgtggcatgtaa	13	9	0	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.chr5:112349073G>T	ENST00000389063.2	+	11	1353	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	385					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)		AACATGCTGAGGGACAGCCCG	0.393																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(1153-1155)gaG>gaT		decapping mRNA 2							187	166	173					5																	112349073		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.chr5:112349073G>T	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.1155G>T	5.37:g.112349073G>T	ENSP00000373715:p.Glu385Asp		Somatic				DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	p.E385D	NM_152624.5	NP_689837	WXS	Illumina GAIIx	Phase_I	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)	11	1353	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	385					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.1155G>T	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.731|8.731	0.916674|0.916674	0.17907|0.17907	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.48201|.	0.82;0.87|.	5.83|5.83	0.981|0.981	0.19756|0.19756	.|.	0.308608|.	0.33959|.	N|.	0.004390|.	T|T	0.35770|0.35770	0.0943|0.0943	L|L	0.29908|0.29908	0.895|0.895	0.37521|0.37521	D|D	0.917537|0.917537	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.20046|.	T|.	0.44|.	.|.	1.0251|1.0251	0.01526|0.01526	0.3092:0.1085:0.3596:0.2227|0.3092:0.1085:0.3596:0.2227	.|.	350;385|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	D|W	350;385;174|367	ENSP00000425770:E350D;ENSP00000373715:E385D|.	ENSP00000373715:E385D|.	E|G	+|+	3|1	2|0	DCP2|DCP2	112376972|112376972	0.995000|0.995000	0.38212|0.38212	0.712000|0.712000	0.30502|0.30502	0.230000|0.230000	0.25150|0.25150	0.170000|0.170000	0.16663|0.16663	-0.101000|-0.101000	0.12219|0.12219	-0.267000|-0.267000	0.10333|0.10333	GAG|GGG		0.393	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		6	280	6	280	---	---	---	---	T	112349073	G	T	112349073	3	4	9	1	0	0	0	0	1	0	0	0	4300	991	35	1	1197	1	DCP2	5	112349073	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3242878	112349073	68566187	285	524										
FEM1C	56929	broad.mit.edu	37	chr5	114860425	114860425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggctgaagttattctttccCcttggatgcagcttaagaaa	10	8	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.chr5:114860425C>A	ENST00000274457.3	-	3	1995	c.1434G>T	c.(1432-1434)agG>agT	p.R478S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	478					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)		TATTCTTTCCCCTTGGATGCA	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.(1432-1434)agG>agT		fem-1 homolog c (C. elegans)							162	161	161					5																	114860425		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114860425C>A		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.1434G>T	5.37:g.114860425C>A	ENSP00000274457:p.Arg478Ser		Somatic					p.R478S	NM_020177.2	NP_064562.1	WXS	Illumina GAIIx	Phase_I	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1995	-		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)	478					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.1434G>T	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772713	0.31411	.	.	ENSG00000145780	ENST00000274457	T	0.54866	0.55	5.55	1.12	0.20585	Ankyrin repeat-containing domain (2);	0.115358	0.64402	D	0.000002	T	0.45796	0.1360	L	0.43701	1.375	0.36129	D	0.846019	B	0.27559	0.181	B	0.41571	0.36	T	0.36480	-0.9746	10	0.08179	T	0.78	-23.5892	9.6744	0.40032	0.0:0.5183:0.0:0.4817	.	478	Q96JP0	FEM1C_HUMAN	S	478	ENSP00000274457:R478S	ENSP00000274457:R478S	R	-	3	2	FEM1C	114888324	0.983000	0.35010	0.989000	0.46669	0.998000	0.95712	0.230000	0.17852	0.271000	0.22005	0.655000	0.94253	AGG		0.393	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		7	469	7	469	---	---	---	---	A	114860425	C	A	114860425	3	1	9	1	0	0	0	0	1	0	0	0	5811	622	22	1	423	1	FEM1C	5	114860425	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2511352	114860425	66054835	286	525										
MEGF10	84466	broad.mit.edu	37	chr5	126734475	126734475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactggagaatgctcttgccCttctggctggatggtaagct	12	10	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.chr5:126734475C>A	ENST00000274473.6	+	8	1034	c.767C>A	c.(766-768)cCt>cAt	p.P256H	MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	256	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|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)		TGCTCTTGCCCTTCTGGCTGG	0.522																																						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.(766-768)cCt>cAt		multiple EGF-like-domains 10							255	195	215					5																	126734475		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126734475C>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.767C>A	5.37:g.126734475C>A	ENSP00000274473:p.Pro256His		Somatic				MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	p.P256H	NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	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)	8	1034	+		Prostate(80;0.165)	256			EGF-like 4.|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.767C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876586	0.91664	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.75	5.75	0.90469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.76234	0.3959	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.973;0.993	T	0.80148	-0.1503	10	0.66056	D	0.02	-10.7588	19.9564	0.97221	0.0:1.0:0.0:0.0	.	256;256	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	256	ENSP00000423354:P256H;ENSP00000423195:P256H;ENSP00000416284:P256H;ENSP00000274473:P256H	ENSP00000274473:P256H	P	+	2	0	MEGF10	126762374	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.751000	0.85126	2.708000	0.92522	0.650000	0.86243	CCT		0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	123	5	123	---	---	---	---	A	126734475	C	A	126734475	3	1	9	1	0	0	0	0	1	0	0	0	9460	681	24	1	789	1	MEGF10	5	126734475	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	11874050	126734475	54180785	287	526										
FBN2	2201	broad.mit.edu	37	chr5	127670475	127670475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtggcaaatgaaggatccCtttgtgttctcacattcccc	8	12	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.chr5:127670475C>A	ENST00000508053.1	-	37	5009	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N			P35556	FBN2_HUMAN	fibrillin 2	1345	EGF-like 21; 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)		TGAAGGATCCCTTTGTGTTCT	0.388																																						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.(4033-4035)aaG>aaT		fibrillin 2							153	136	142					5																	127670475		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.chr5:127670475C>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.4035G>T	5.37:g.127670475C>A	ENSP00000424571:p.Lys1345Asn		Somatic				FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N	p.K1345N			WXS	Illumina GAIIx	Phase_I	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)	37	5009	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1345			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4035G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536416	0.65085	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.75	0.96	0.19631	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.277569	0.30565	N	0.009356	T	0.81973	0.4936	N	0.10664	0.02	0.33579	D	0.599594	D;D	0.63046	0.987;0.992	P;P	0.62649	0.905;0.883	T	0.82329	-0.0511	10	0.41790	T	0.15	.	8.9078	0.35535	0.0:0.5023:0.0:0.4977	.	1312;1345	D6RJI3;P35556	.;FBN2_HUMAN	N	1345;1345;195;1312	ENSP00000262464:K1345N;ENSP00000424571:K1345N;ENSP00000426839:K195N;ENSP00000425596:K1312N	ENSP00000262464:K1345N	K	-	3	2	FBN2	127698374	0.971000	0.33674	0.998000	0.56505	0.993000	0.82548	0.085000	0.14912	0.057000	0.16193	-0.142000	0.14014	AAG		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	186	7	186	---	---	---	---	A	127670475	C	A	127670475	3	1	9	1	0	0	0	0	1	0	0	0	5703	680	24	1	4843	1	FBN2	5	127670475	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	936000	127670475	53244785	288	527										
ADAMTS19	171019	broad.mit.edu	37	chr5	128994403	128994403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcatgcaagatcattaaaGgggattttaatcacaccaga	7	7	3	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.chr5:128994403G>T	ENST00000274487.4	+	15	2525	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	794	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)		GATCATTAAAGGGGATTTTAA	0.343																																						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.(2380-2382)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 19							142	143	142					5																	128994403		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994403G>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.2380G>T	5.37:g.128994403G>T	ENSP00000274487:p.Gly794Trp		Somatic				CTC-575N7.1_ENST00000503616.1_RNA	p.G794W	NM_133638.3	NP_598377.3	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2525	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	794			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2380G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837848	0.71373	.	.	ENSG00000145808	ENST00000274487	T	0.66099	-0.19	3.79	3.79	0.43588	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000004	D	0.83945	0.5364	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88871	0.3333	9	.	.	.	.	16.9522	0.86248	0.0:0.0:1.0:0.0	.	794	Q8TE59	ATS19_HUMAN	W	794	ENSP00000274487:G794W	.	G	+	1	0	ADAMTS19	129022302	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.453000	0.90349	2.409000	0.81822	0.585000	0.79938	GGG		0.343	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		6	337	6	337	---	---	---	---	T	128994403	G	T	128994403	3	4	9	1	0	0	0	0	1	0	0	0	264	1000	35	1	2438	1	ADAMTS19	5	128994403	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1323928	128994403	51920857	289	528										
GDF9	2661	broad.mit.edu	37	chr5	132200139	132200139	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagcaatctgagcttctccCccagaagcctgagaaccaag	9	14	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.chr5:132200139C>A	ENST00000378673.2	-	2	953	c.87G>T	c.(85-87)ggG>ggT	p.G29G	UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000464378.1_Intron|GDF9_ENST00000296875.2_Silent_p.G29G			O60383	GDF9_HUMAN	growth differentiation factor 9	29					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTTCTCCCCCAGAAGCCT	0.517																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(85-87)ggG>ggT		growth differentiation factor 9							81	87	85					5																	132200139		2203	4300	6503	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132200139C>A		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.87G>T	5.37:g.132200139C>A			Somatic				GDF9_ENST00000296875.2_Silent_p.G29G|GDF9_ENST00000464378.1_Intron	p.G29G			WXS	Illumina GAIIx	Phase_I	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	953	-		all_cancers(142;0.105)|Breast(839;0.198)	29					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.87G>T	CCDS4162.1																																																																																				0.517	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		5	149	5	149	---	---	---	---	A	132200139	C	A	132200139	2	1	9	1	0	0	0	0	0	0	0	1	6319	610	22	1		1	GDF9	5	132200139	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3205736	132200139	48715121	290	529										
PKD2L2	27039	broad.mit.edu	37	chr5	137235236	137235236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctacttctaataccaactccCcttggcactggggatttctt	6	13	2	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.chr5:137235236C>A	ENST00000508883.1	+	5	582	c.556C>A	c.(556-558)Cct>Act	p.P186T	PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000508638.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186					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)			TACCAACTCCCCTTGGCACTG	0.353																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(556-558)Cct>Act		polycystic kidney disease 2-like 2							123	112	115					5																	137235236		1827	4091	5918	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235236C>A	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.556C>A	5.37:g.137235236C>A	ENSP00000424725:p.Pro186Thr		Somatic				PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186T	p.P186T	NM_001258449.1	NP_001245378.1	WXS	Illumina GAIIx	Phase_I	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	611	+			186					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.556C>A		.	.	.	.	.	.	.	.	.	.	C	13.12	2.143541	0.37825	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.21	2.37	0.29283	Polycystin cation channel, PKD1/PKD2 (1);	0.592975	0.15932	N	0.237611	T	0.68421	0.2999	L	0.37630	1.12	0.28990	N	0.888093	B;D;D	0.89917	0.082;1.0;1.0	B;D;D	0.77557	0.063;0.99;0.935	T	0.58668	-0.7596	10	0.23302	T	0.38	-10.1075	7.426	0.27098	0.0:0.7025:0.1397:0.1578	.	186;186;186	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	T	96;152;186;186;186;186	ENSP00000424885:P96T;ENSP00000344177:P152T;ENSP00000423382:P186T;ENSP00000425513:P186T;ENSP00000424725:P186T;ENSP00000290431:P186T	ENSP00000290431:P186T	P	+	1	0	PKD2L2	137263135	0.106000	0.21978	0.991000	0.47740	0.963000	0.63663	1.259000	0.32956	0.664000	0.31047	0.650000	0.86243	CCT		0.353	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		6	238	6	238	---	---	---	---	A	137235236	C	A	137235236	3	1	9	1	0	0	0	0	1	0	0	0	11968	623	22	1	574	1	PKD2L2	5	137235236	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5035097	137235236	43680024	291	530										
ETF1	2107	broad.mit.edu	37	chr5	137844470	137844470	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttagcaaaccattccaacagGggcatgctctcgataagctc	8	12	1	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.chr5:137844470G>T	ENST00000360541.5	-	10	1340	c.1119C>A	c.(1117-1119)ccC>ccA	p.P373P	ETF1_ENST00000503014.1_Silent_p.P359P|ETF1_ENST00000499810.2_Silent_p.P340P	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	373					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)			ATTCCAACAGGGGCATGCTCT	0.413																																						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.(1018-1020)ccC>ccA		eukaryotic translation termination factor 1							112	114	113					5																	137844470		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:137844470G>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.1119C>A	5.37:g.137844470G>T			Somatic				ETF1_ENST00000360541.5_Silent_p.P373P|ETF1_ENST00000503014.1_Silent_p.P359P	p.P340P	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	WXS	Illumina GAIIx	Phase_I	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1468	-			373					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.1020C>A	CCDS4207.1																																																																																				0.413	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		6	288	6	288	---	---	---	---	T	137844470	G	T	137844470	2	4	9	1	0	0	0	0	0	0	0	1	5268	1219	43	1		1	ETF1	5	137844470	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	609234	137844470	43070790	292	531										
PCDHA3	56145	broad.mit.edu	37	chr5	140180997	140180997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggcgtccaaaagacacgGggaccttctggaggtaaatc	14	9	1	1	rs149543626		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.chr5:140180997G>T	ENST00000522353.2	+	1	215	c.215G>T	c.(214-216)gGg>gTg	p.G72V	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	72	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)			AAAAGACACGGGGACCTTCTG	0.627																																						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.(214-216)gGg>gTg									75	89	84					5																	140180997		2203	4294	6497	SO:0001583	missense	56145							g.chr5:140180997G>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.215G>T	5.37:g.140180997G>T	ENSP00000429808:p.Gly72Val		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron	p.G72V	NM_018906.2	NP_061729.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	215	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.215G>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.146280	0.37923	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27104	1.69;1.69	4.32	1.21	0.21127	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.364201	0.19615	U	0.110037	T	0.42337	0.1198	L	0.49778	1.585	0.28825	N	0.89744	D;D	0.58268	0.982;0.978	D;P	0.65443	0.935;0.823	T	0.44003	-0.9356	10	0.51188	T	0.08	.	15.6435	0.77029	0.0:0.5825:0.4175:0.0	.	72;72	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	72	ENSP00000429808:G72V;ENSP00000434086:G72V	ENSP00000429808:G72V	G	+	2	0	PCDHA3	140161181	0.000000	0.05858	0.926000	0.36857	0.772000	0.43724	-0.612000	0.05616	0.011000	0.14865	0.461000	0.40582	GGG		0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	186	5	186	---	---	---	---	T	140180997	G	T	140180997	3	4	9	1	0	0	0	0	1	0	0	0	11525	1232	43	1	217	1	PCDHA3	5	140180997	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2336527	140180997	40734263	293	532										
PCDHB4	56131	broad.mit.edu	37	chr5	140502609	140502609	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggatgtgaatgacaatccCccagaacttatcatatcttc	7	10	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.chr5:140502609C>A	ENST00000194152.1	+	1	1029	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	343	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)	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)			ATGACAATCCCCCAGAACTTA	0.443																																						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.(1027-1029)ccC>ccA									150	161	157					5																	140502609		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502609C>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.1029C>A	5.37:g.140502609C>A			Somatic					p.P343P	NM_018938.2	NP_061761.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1029	+			343			Cadherin 3.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1029C>A	CCDS4246.1																																																																																				0.443	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		8	402	8	402	---	---	---	---	A	140502609	C	A	140502609	2	1	9	1	0	0	0	0	0	0	0	1	11544	610	22	1		1	PCDHB4	5	140502609	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	321612	140502609	40412651	294	533										
PCDHB8	56128	broad.mit.edu	37	chr5	140558651	140558651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagatgtgaacgaccatgccCcagaagttaccatgtctgca	9	11	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.chr5:140558651C>A	ENST00000239444.2	+	1	1281	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	346	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(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)			CGACCATGCCCCAGAAGTTAC	0.448																																						ENST00000239444.2																			0				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.(1036-1038)Cca>Aca									227	300	275					5																	140558651		2203	4298	6501	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558651C>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.1036C>A	5.37:g.140558651C>A	ENSP00000239444:p.Pro346Thr		Somatic					p.P346T	NM_019120.3	NP_061993.2	WXS	Illumina GAIIx	Phase_I	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1281	+			346			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1036C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818504	0.71028	.	.	ENSG00000120322	ENST00000239444	D	0.81499	-1.5	4.25	4.25	0.50352	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.93536	0.7937	H	0.98089	4.145	0.50467	D	0.999874	D	0.89917	1.0	D	0.97110	1.0	D	0.96228	0.9166	9	0.87932	D	0	.	16.2711	0.82622	0.0:1.0:0.0:0.0	.	346	Q9UN66	PCDB8_HUMAN	T	346	ENSP00000239444:P346T	ENSP00000239444:P346T	P	+	1	0	PCDHB8	140538835	1.000000	0.71417	0.854000	0.33618	0.923000	0.55619	6.049000	0.71053	1.911000	0.55334	0.585000	0.79938	CCA		0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		11	792	11	792	---	---	---	---	A	140558651	C	A	140558651	3	1	9	1	0	0	0	0	1	0	0	0	11548	623	22	1	1038	1	PCDHB8	5	140558651	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	56042	140558651	40356609	295	534										
PCDHGA3	56112	broad.mit.edu	37	chr5	140723735	140723735	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagataaaggttccttcgtGggcaacatcgctaacgacct	9	11	0	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.chr5:140723735G>T	ENST00000253812.6	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	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	45	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCTTCGTGGGCAACATCG	0.617											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.(133-135)gtG>gtT									98	114	108					5																	140723735		2148	4283	6431	SO:0001819	synonymous_variant	56112							g.chr5:140723735G>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.135G>T	5.37:g.140723735G>T			Somatic	OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.V45V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	135	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.135G>T	CCDS47290.1																																																																																				0.617	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		7	329	7	329	---	---	---	---	T	140723735	G	T	140723735	2	4	9	1	0	0	0	0	0	0	0	1	11555	1335	47	1		1	PCDHGA3	5	140723735	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	165084	140723735	40191525	296	535										
PCDHGA6	56109	broad.mit.edu	37	chr5	140755086	140755086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgtgaatgcactggaccCtgacgtggaccagaacgccc	11	14	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.chr5:140755086C>A	ENST00000517434.1	+	1	1436	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_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	479	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)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGGACCCTGACGTGGAC	0.582																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1435-1437)cCt>cAt									130	145	140					5																	140755086		2067	4218	6285	SO:0001583	missense	56109							g.chr5:140755086C>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.1436C>A	5.37:g.140755086C>A	ENSP00000429601:p.Pro479His		Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.P479H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1436C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.804	0.714272	0.15306	.	.	ENSG00000253731	ENST00000517434	T	0.62364	0.03	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.301154	0.17001	N	0.190920	T	0.71316	0.3325	M	0.93062	3.375	0.25903	N	0.983339	B;B	0.30973	0.302;0.203	B;B	0.36464	0.225;0.16	T	0.69120	-0.5229	10	0.66056	D	0.02	.	8.8612	0.35258	0.1484:0.7765:0.0:0.075	.	479;479	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	479	ENSP00000429601:P479H	ENSP00000429601:P479H	P	+	2	0	PCDHGA6	140735270	0.000000	0.05858	0.317000	0.25265	0.007000	0.05969	1.205000	0.32308	1.532000	0.49169	0.655000	0.94253	CCT		0.582	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		6	300	6	300	---	---	---	---	A	140755086	C	A	140755086	3	1	9	1	0	0	0	0	1	0	0	0	11558	681	24	1	1438	1	PCDHGA6	5	140755086	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	31351	140755086	40160174	297	536										
PCDHGA8	9708	broad.mit.edu	37	chr5	140773098	140773098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatacaaatgacaatgccCcggtttttcctcacccgatt	7	12	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.chr5:140773098C>A	ENST00000398604.2	+	1	718	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_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)			TGACAATGCCCCGGTTTTTCC	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>Acg									74	81	78					5																	140773098		2095	4244	6339	SO:0001583	missense	9708							g.chr5:140773098C>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.718C>A	5.37:g.140773098C>A	ENSP00000381605:p.Pro240Thr		Somatic				PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.P240T	NM_032088.1	NP_114477.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	718	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.718C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	19.19	3.780112	0.70222	.	.	ENSG00000253767	ENST00000398604	D	0.84730	-1.89	5.41	5.41	0.78517	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31177	U	0.008111	D	0.96160	0.8748	H	0.99299	4.505	0.48511	D	0.999664	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98043	1.0383	10	0.87932	D	0	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	240;240	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	T	240	ENSP00000381605:P240T	ENSP00000381605:P240T	P	+	1	0	PCDHGA8	140753282	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.706000	0.68362	2.552000	0.86080	0.655000	0.94253	CCG		0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		5	162	5	162	---	---	---	---	A	140773098	C	A	140773098	3	1	9	1	0	0	0	0	1	0	0	0	11560	623	22	1	720	1	PCDHGA8	5	140773098	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	18012	140773098	40142162	298	537										
TCERG1	10915	broad.mit.edu	37	chr5	145843328	145843328	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacctccgtttcgtgttccCcttcctggcatgccaattcc	7	16	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.chr5:145843328C>A	ENST00000296702.5	+	5	1145	c.1107C>A	c.(1105-1107)ccC>ccA	p.P369P	TCERG1_ENST00000394421.2_Silent_p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	369	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)			TTCGTGTTCCCCTTCCTGGCA	0.448																																						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.(1105-1107)ccC>ccA		transcription elongation regulator 1							208	185	193					5																	145843328		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.chr5:145843328C>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.1107C>A	5.37:g.145843328C>A			Somatic				TCERG1_ENST00000394421.2_Silent_p.P369P	p.P369P	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1145	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	369			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1107C>A	CCDS4282.1																																																																																				0.448	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	372	6	372	---	---	---	---	A	145843328	C	A	145843328	2	1	9	1	0	0	0	0	0	0	0	1	15682	610	22	1		1	TCERG1	5	145843328	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5070230	145843328	35071932	299	538										
PPP2R2B	5521	broad.mit.edu	37	chr5	145969654	145969654	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtcttttctccgcttgccCcccacacacacttttcgggg	7	17	2	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.chr5:145969654C>A	ENST00000394413.3	-	9	1758	c.1188G>T	c.(1186-1188)ggG>ggT	p.G396G	PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000453001.1_Silent_p.G396G|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394411.4_Silent_p.G396G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	396					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.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(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)			TCCGCTTGCCCCCCACACACA	0.498																																						ENST00000394413.3																			4	Substitution - coding silent(4)	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)	endometrium(4)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1186-1188)ggG>ggT		protein phosphatase 2, regulatory subunit B, beta							140	146	144					5																	145969654		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.chr5:145969654C>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.1188G>T	5.37:g.145969654C>A			Somatic				PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|CTB-99A3.1_ENST00000512730.1_RNA	p.G396G			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1758	-			396					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.1188G>T	CCDS4284.1																																																																																				0.498	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	374	7	374	---	---	---	---	A	145969654	C	A	145969654	2	1	9	1	0	0	0	0	0	0	0	1	12385	610	22	1		1	PPP2R2B	5	145969654	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	126326	145969654	34945606	300	539										
DPYSL3	1809	broad.mit.edu	37	chr5	146795341	146795341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggtgatgtccacatgcaGggcatagtcacagcaactct	12	10	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.chr5:146795341G>T	ENST00000398514.3	-	4	780	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.L251M	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	137					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACATGCAGGGCATAGTCA	0.552																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(751-753)Ctg>Atg		dihydropyrimidinase-like 3							254	257	256					5																	146795341		2139	4244	6383	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146795341G>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.409C>A	5.37:g.146795341G>T	ENSP00000381526:p.Leu137Met		Somatic				DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.L137M	p.L251M	NM_001197294.1	NP_001184223.1	WXS	Illumina GAIIx	Phase_I	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	948	-			137					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.751C>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703732	0.68501	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.91180	-2.8;-2.8	5.93	0.829	0.18847	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.145706	0.47093	D	0.000242	D	0.95037	0.8393	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.81914	0.995;0.987	D	0.94169	0.7421	10	0.72032	D	0.01	-20.2013	10.422	0.44356	0.45:0.0:0.55:0.0	.	251;137	B3SXQ8;Q14195	.;DPYL3_HUMAN	M	137;251	ENSP00000381526:L137M;ENSP00000343690:L251M	ENSP00000343690:L251M	L	-	1	2	DPYSL3	146775534	0.958000	0.32768	0.995000	0.50966	0.934000	0.57294	1.087000	0.30865	0.416000	0.25844	-0.218000	0.12543	CTG		0.552	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		6	346	6	346	---	---	---	---	T	146795341	G	T	146795341	3	4	9	1	0	0	0	0	1	0	0	0	4748	991	35	1	1347	1	DPYSL3	5	146795341	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	825687	146795341	34119919	301	540										
ARHGEF37	389337	broad.mit.edu	37	chr5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtgccttctggcttcttgGccagggctcggagcccagtt	13	12	2	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.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		Somatic					p.A661P	NM_001001669.2	NP_001001669.2	WXS	Illumina GAIIx	Phase_I	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	3	93	---	---	---	---	C	149011707	G	C	149011707	3	2	9	1	0	0	0	0	1	0	0	0	906	1203	42	4	2027	4	ARHGEF37	5	149011707	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2216366	149011707	31903553	302	541										
CSF1R	1436	broad.mit.edu	37	chr5	149447876	149447876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgaagaggaactcatccgGgggatgcgtgtgggctcctg	17	8	1	2	rs139203165	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.chr5:149447876G>T	ENST00000286301.3	-	11	1819	c.1528C>A	c.(1528-1530)Ccg>Acg	p.P510T	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	510					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)	AACTCATCCGGGGGATGCGTG	0.597																																						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.(1528-1530)Ccg>Acg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						101	89	93					5																	149447876		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.chr5:149447876G>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.1528C>A	5.37:g.149447876G>T	ENSP00000286301:p.Pro510Thr		Somatic					p.P510T	NM_005211.3	NP_005202.2	WXS	Illumina GAIIx	Phase_I	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	1819	-			510					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1528C>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	3.878	-0.026443	0.07589	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.77358	-1.09	3.87	1.04	0.20106	.	1.232220	0.05935	N	0.635917	T	0.64416	0.2596	L	0.41236	1.265	0.09310	N	1	B;B	0.29378	0.243;0.026	B;B	0.30716	0.119;0.021	T	0.45454	-0.9260	10	0.09843	T	0.71	.	2.6159	0.04903	0.1049:0.1851:0.5189:0.191	.	362;510	B4E2Y8;P07333	.;CSF1R_HUMAN	T	510;362	ENSP00000286301:P510T	ENSP00000286301:P510T	P	-	1	0	CSF1R	149428069	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.331000	0.19733	0.209000	0.20645	0.561000	0.74099	CCG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	83	4	83	---	---	---	---	T	149447876	G	T	149447876	3	4	9	1	0	0	0	0	1	0	0	0	3932	1232	43	1	1438	1	CSF1R	5	149447876	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	436169	149447876	31467384	303	542										
SLC6A7	6534	broad.mit.edu	37	chr5	149581948	149581948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcagatcttctattccctGggtgtgggcttcggggggct	14	10	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.chr5:149581948G>T	ENST00000230671.2	+	7	1268	c.897G>T	c.(895-897)ctG>ctT	p.L299L	SLC6A7_ENST00000524041.1_Silent_p.L299L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	299					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)	TCTATTCCCTGGGTGTGGGCT	0.572																																						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.(895-897)ctG>ctT		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						113	120	118					5																	149581948		2203	4300	6503	SO:0001819	synonymous_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581948G>T	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.897G>T	5.37:g.149581948G>T			Somatic				SLC6A7_ENST00000524041.1_Silent_p.L299L	p.L299L	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1268	+		all_hematologic(541;0.224)	299					Q0VG81|Q52LU6	Silent	SNP	ENST00000230671.2	37	c.897G>T	CCDS4305.1																																																																																				0.572	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		5	175	5	175	---	---	---	---	T	149581948	G	T	149581948	2	4	9	1	0	0	0	0	0	0	0	1	14689	1335	47	1		1	SLC6A7	5	149581948	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	134072	149581948	31333312	304	543										
CD74	972	broad.mit.edu	37	chr5	149784707	149784707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggttctccgggaagctccCcttcagtggcgggtacacct	12	14	2	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.chr5:149784707C>A	ENST00000009530.7	-	5	479	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.G160W			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	160					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|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 by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGCTCCCCTTCAGTGGC	0.547			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(478-480)Ggg>Tgg		CD74 molecule, major histocompatibility complex, class II invariant chain							122	123	123					5																	149784707		1966	4137	6103	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149784707C>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.478G>T	5.37:g.149784707C>A	ENSP00000009530:p.Gly160Trp		Somatic				CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.G160W|CD74_ENST00000524315.1_Intron	p.G160W	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	WXS	Illumina GAIIx	Phase_I	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	657	-		all_hematologic(541;0.224)	160					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.478G>T	CCDS47309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.563991|3.563991	0.65651|0.65651	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000518797|ENST00000353334;ENST00000009530	.|T	.|0.59906	.|0.23	5.79|5.79	4.74|4.74	0.60224|0.60224	.|MHC class II-associated invariant chain, trimerisation (3);	0.565871|0.565871	0.20093|0.20093	N|N	0.099414|0.099414	T|T	0.72890|0.72890	0.3517|0.3517	M|M	0.72118|0.72118	2.19|2.19	0.27475|0.27475	N|N	0.952768|0.952768	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.991;0.982;0.999	T|T	0.65796|0.65796	-0.6081|-0.6081	6|10	.|0.72032	.|D	.|0.01	-24.2566|-24.2566	11.4672|11.4672	0.50246|0.50246	0.0:0.8653:0.0:0.1347|0.0:0.8653:0.0:0.1347	.|.	.|160;160;160;72	.|A9YLN4;P04233-2;P04233;B4DUJ2	.|.;.;HG2A_HUMAN;.	V|W	154|160	.|ENSP00000009530:G160W	.|ENSP00000009530:G160W	G|G	-|-	2|1	0|0	CD74|CD74	149764900|149764900	0.250000|0.250000	0.23951|0.23951	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.893000|0.893000	0.28336|0.28336	2.735000|2.735000	0.93741|0.93741	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.547	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		5	161	5	161	---	---	---	---	A	149784707	C	A	149784707	3	1	9	1	0	0	0	0	1	0	0	0	3035	623	22	1	432	1	CD74	5	149784707	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	202759	149784707	31130553	305	544										
ZNF300	91975	broad.mit.edu	37	chr5	150276299	150276299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcactcttgaaatattttccCcagtggattatatttatgcc	6	9	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.chr5:150276299C>A	ENST00000274599.5	-	6	922	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	ZNF300_ENST00000446148.2_Missense_Mutation_p.G184W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W|ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	168					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)			AATATTTTCCCCAGTGGATTA	0.348																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(550-552)Ggg>Tgg		zinc finger protein 300							96	97	97					5																	150276299		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276299C>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.502G>T	5.37:g.150276299C>A	ENSP00000274599:p.Gly168Trp		Somatic				ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G168W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W	p.G184W	NM_001172831.1	NP_001166302.1	WXS	Illumina GAIIx	Phase_I	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	977	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	168					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.550G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	6.503	0.461043	0.12342	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.09630	3.04;3.05;2.96;3.04	2.53	1.65	0.23941	.	.	.	.	.	T	0.15132	0.0365	L	0.45352	1.415	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.14755	-1.0461	9	0.87932	D	0	.	3.2207	0.06715	0.2581:0.5953:0.0:0.1466	.	168	Q96RE9	ZN300_HUMAN	W	184;168;132;168	ENSP00000397178:G184W;ENSP00000274599:G168W;ENSP00000392593:G132W;ENSP00000377773:G168W	ENSP00000274599:G168W	G	-	1	0	ZNF300	150256492	0.000000	0.05858	0.016000	0.15963	0.034000	0.12701	-0.229000	0.09098	0.627000	0.30340	0.557000	0.71058	GGG		0.348	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		8	305	8	305	---	---	---	---	A	150276299	C	A	150276299	3	1	9	1	0	0	0	0	1	0	0	0	17828	623	22	1	1316	1	ZNF300	5	150276299	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	491592	150276299	30638961	306	545										
G3BP1	10146	broad.mit.edu	37	chr5	151166205	151166205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgatggagaagcctagtccCctgctggtcgggcgggaatt	16	9	0	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.chr5:151166205C>A	ENST00000394123.3	+	2	169	c.24C>A	c.(22-24)ccC>ccA	p.P8P	G3BP1_ENST00000543466.1_De_novo_Start_InFrame|G3BP1_ENST00000356245.3_Silent_p.P8P			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	8					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCG	0.478																																						ENST00000543466.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29								GTPase activating protein (SH3 domain) binding protein 1							140	138	139					5																	151166205		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166205C>A	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"RNA binding motif (RRM) containing"	30292	protein-coding gene	gene with protein product	"Ras-GTPase-activating protein SH3-domain-binding protein"	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.24C>A	5.37:g.151166205C>A			Somatic				G3BP1_ENST00000394123.3_Silent_p.P8P|G3BP1_ENST00000356245.3_Silent_p.P8P				WXS	Illumina GAIIx	Phase_I	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		0	186	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)						Q5HYE9	Translation_Start_Site	SNP	ENST00000394123.3	37		CCDS4319.1																																																																																				0.478	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		7	244	7	244	---	---	---	---	A	151166205	C	A	151166205	2	1	9	1	0	0	0	0	0	0	0	1	6141	610	22	1		1	G3BP1	5	151166205	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	889906	151166205	29749055	307	546										
ATP10B	23120	broad.mit.edu	37	chr5	160114833	160114833	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattgctcaaagagattccgGggcaggaaggtgaagagggt	16	5	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.chr5:160114833G>T	ENST00000327245.5	-	5	1095	c.249C>A	c.(247-249)ccC>ccA	p.P83P	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					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)			AGAGATTCCGGGGCAGGAAGG	0.458																																						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.(247-249)ccC>ccA		ATPase, class V, type 10B							183	187	186					5																	160114833		1929	4127	6056	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.chr5:160114833G>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.249C>A	5.37:g.160114833G>T			Somatic				CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	p.P83P	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1095	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	83					Q9H725	Silent	SNP	ENST00000327245.5	37	c.249C>A	CCDS43394.1																																																																																				0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	252	6	252	---	---	---	---	T	160114833	G	T	160114833	2	4	9	1	0	0	0	0	0	0	0	1	1117	1219	43	1		1	ATP10B	5	160114833	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8948628	160114833	20800427	308	547										
GABRB2	2561	broad.mit.edu	37	chr5	160758068	160758068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcaatggccttcacatagGggattttagggagagtttcc	12	7	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.chr5:160758068G>T	ENST00000393959.1	-	8	898	c.899C>A	c.(898-900)cCc>cAc	p.P300H	GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000274547.2_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	300	Allosteric effector binding. {ECO:0000250}.				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)	CTTCACATAGGGGATTTTAGG	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.(898-900)cCc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						163	169	167					5																	160758068		2203	4300	6503	SO:0001583	missense	2561				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.chr5:160758068G>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.899C>A	5.37:g.160758068G>T	ENSP00000377531:p.Pro300His		Somatic				GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000393959.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H	p.P300H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	WXS	Illumina GAIIx	Phase_I	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1116	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	300					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.899C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722496	0.89298	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.109197	0.64402	D	0.000006	D	0.91012	0.7173	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.997	D	0.91812	0.5460	10	0.87932	D	0	.	18.8686	0.92303	0.0:0.0:1.0:0.0	.	140;237;300;300	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	300;300;300;300;237;140	ENSP00000377531:P300H;ENSP00000274547:P300H;ENSP00000274546:P300H;ENSP00000429320:P300H;ENSP00000430532:P237H;ENSP00000429750:P140H	ENSP00000274547:P300H	P	-	2	0	GABRB2	160690646	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	2.451000	0.82905	0.563000	0.77884	CCC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			7	337	7	337	---	---	---	---	T	160758068	G	T	160758068	3	4	9	1	0	0	0	0	1	0	0	0	6167	1232	43	1	651	1	GABRB2	5	160758068	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	643235	160758068	20157192	309	548										
STK10	6793	broad.mit.edu	37	chr5	171471911	171471911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcatccgcagaactgtagGggaagaacttggcggccttg	14	9	0	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.chr5:171471911G>T	ENST00000176763.5	-	19	3225	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	961					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)			AGAACTGTAGGGGAAGAACTT	0.587																																						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.(2881-2883)cCc>cAc		serine/threonine kinase 10							81	78	79					5																	171471911		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171471911G>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.2882C>A	5.37:g.171471911G>T	ENSP00000176763:p.Pro961His		Somatic					p.P961H	NM_005990.3	NP_005981.3	WXS	Illumina GAIIx	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3225	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	961					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2882C>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409112	0.83340	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T;T	0.69926	-0.44;1.16	4.42	4.42	0.53409	.	0.311790	0.29722	N	0.011377	T	0.76688	0.4022	L	0.49350	1.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.79593	-0.1739	10	0.87932	D	0	.	14.5394	0.67982	0.0:0.0:1.0:0.0	.	961	O94804	STK10_HUMAN	H	961;252;961	ENSP00000176763:P961H;ENSP00000428806:P252H	ENSP00000176763:P961H	P	-	2	0	STK10	171404516	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.652000	0.74377	1.993000	0.58246	0.655000	0.94253	CCC		0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		5	136	5	136	---	---	---	---	T	171471911	G	T	171471911	3	4	9	1	0	0	0	0	1	0	0	0	15285	1232	43	1	28	1	STK10	5	171471911	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	10713843	171471911	9443349	310	549										
HK3	3101	broad.mit.edu	37	chr5	176309037	176309037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatcgtccccaaaggcgccCcactccatgttgatgcacat	7	17	0	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.chr5:176309037C>A	ENST00000292432.5	-	16	2236	c.2145G>T	c.(2143-2145)tgG>tgT	p.W715C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	715	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)			CAAAGGCGCCCCACTCCATGT	0.632																																						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.(2143-2145)tgG>tgT		hexokinase 3 (white cell)							78	76	77					5																	176309037		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176309037C>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.2145G>T	5.37:g.176309037C>A	ENSP00000292432:p.Trp715Cys		Somatic					p.W715C	NM_002115.2	NP_002106.2	WXS	Illumina GAIIx	Phase_I	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2236	-	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)	715			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2145G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418195	0.83449	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.97665	-4.48;-4.48	5.06	5.06	0.68205	Hexokinase, C-terminal (1);	0.000000	0.49916	D	0.000126	D	0.98931	0.9637	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99399	1.0927	10	0.87932	D	0	-20.1424	18.5845	0.91183	0.0:1.0:0.0:0.0	.	715	P52790	HXK3_HUMAN	C	715;105	ENSP00000292432:W715C;ENSP00000424632:W105C	ENSP00000292432:W715C	W	-	3	0	HK3	176241643	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.651000	0.83577	2.782000	0.95742	0.655000	0.94253	TGG		0.632	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	133	5	133	---	---	---	---	A	176309037	C	A	176309037	3	1	9	1	0	0	0	0	1	0	0	0	7192	624	22	1	642	1	HK3	5	176309037	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4837126	176309037	4606223	311	550										
UIMC1	51720	broad.mit.edu	37	chr5	176332480	176332480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagcctgcctcttccatccCtggtgaaggcaccctagaga	10	15	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.chr5:176332480C>A	ENST00000377227.4	-	15	2095	c.1963G>T	c.(1963-1965)Ggg>Tgg	p.G655W	UIMC1_ENST00000377219.2_Missense_Mutation_p.G656W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W|UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	655					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)			TCTTCCATCCCTGGTGAAGGC	0.433																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1966-1968)Ggg>Tgg		ubiquitin interaction motif containing 1							67	69	68					5																	176332480		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.chr5:176332480C>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.1963G>T	5.37:g.176332480C>A	ENSP00000366434:p.Gly655Trp		Somatic				UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W|UIMC1_ENST00000377227.4_Missense_Mutation_p.G655W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W	p.G656W	NM_016290.4	NP_057374.3	WXS	Illumina GAIIx	Phase_I	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2132	-	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)	655					A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1966G>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413715	0.42817	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.58	1.79	0.24919	.	1.305070	0.04968	N	0.463265	T	0.23727	0.0574	L	0.43152	1.355	0.09310	N	1	D;D;D	0.58970	0.973;0.984;0.973	P;P;P	0.59115	0.513;0.852;0.792	T	0.11179	-1.0598	10	0.72032	D	0.01	.	4.0756	0.09902	0.0:0.4416:0.167:0.3914	.	655;285;577	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	W	655;656;655;489;578;286	ENSP00000366434:G655W;ENSP00000366425:G656W;ENSP00000421926:G655W;ENSP00000427480:G489W	ENSP00000314909:G286W	G	-	1	0	UIMC1	176265086	0.009000	0.17119	0.000000	0.03702	0.048000	0.14542	0.164000	0.16542	0.298000	0.22638	-0.140000	0.14226	GGG		0.433	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		4	85	4	85	---	---	---	---	A	176332480	C	A	176332480	3	1	9	1	0	0	0	0	1	0	0	0	16968	681	24	1	200	1	UIMC1	5	176332480	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	23443	176332480	4582780	312	551										
COL23A1	91522	broad.mit.edu	37	chr5	177715351	177715351	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatctcgtcctgattgccCctgtggtaattaatatgtca	8	11	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.chr5:177715351C>A	ENST00000390654.3	-	5	772	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	139	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGATTGCCCCTGTGGTAAT	0.443																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(415-417)Ggg>Tgg		collagen, type XXIII, alpha 1							137	135	136					5																	177715351		1872	4116	5988	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177715351C>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.415-1G>T	5.37:g.177715351C>A			Somatic				COL23A1_ENST00000407622.1_Intron	p.G139W	NM_173465.3	NP_775736.2	WXS	Illumina GAIIx	Phase_I	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	5	772	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	139			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Splice_Site	SNP	ENST00000390654.3	37	c.415G>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837375	0.32513	.	.	ENSG00000050767	ENST00000390654	D	0.99369	-5.78	5.59	5.59	0.84812	.	0.215290	0.26832	N	0.022261	D	0.99677	0.9879	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97512	1.0067	10	0.87932	D	0	-9.2816	15.0845	0.72142	0.0:1.0:0.0:0.0	.	139	Q86Y22	CONA1_HUMAN	W	139	ENSP00000375069:G139W	ENSP00000375069:G139W	G	-	1	0	COL23A1	177647957	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.860000	0.55995	2.619000	0.88677	0.655000	0.94253	GGG		0.443	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	Missense_Mutation	6	213	6	213	---	---	---	---	A	177715351	C	A	177715351	5	1	9	1	0	0	0	0	0	0	1	0	3682	637	22	1	1307	1	COL23A1	5	177715351	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1382871	177715351	3199909	313	552										
MAML1	9794	broad.mit.edu	37	chr5	179193269	179193269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaacccacagcaggccaccCcggcaccagccccgggccag	11	20	0	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.chr5:179193269C>A	ENST00000292599.3	+	2	1521	c.1258C>A	c.(1258-1260)Ccg>Acg	p.P420T	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)			GCAGGCCACCCCGGCACCAGC	0.657																																						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.(1258-1260)Ccg>Acg		mastermind-like 1 (Drosophila)							61	75	70					5																	179193269		2203	4300	6503	SO:0001583	missense	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.chr5:179193269C>A	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.1258C>A	5.37:g.179193269C>A	ENSP00000292599:p.Pro420Thr		Somatic				MAML1_ENST00000503050.1_3'UTR	p.P420T	NM_014757.4	NP_055572.1	WXS	Illumina GAIIx	Phase_I	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1521	+	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)	420						Missense_Mutation	SNP	ENST00000292599.3	37	c.1258C>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	1.250	-0.618842	0.03663	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22945	1.93	4.88	2.09	0.27110	.	0.769658	0.12099	N	0.499679	T	0.18759	0.0450	L	0.36672	1.1	0.09310	N	1	P;B	0.43094	0.799;0.411	B;B	0.41691	0.364;0.047	T	0.11665	-1.0578	10	0.29301	T	0.29	-0.2954	5.2299	0.15416	0.1499:0.6279:0.1443:0.0779	.	457;420	Q59GH4;Q92585	.;MAML1_HUMAN	T	420;457	ENSP00000292599:P420T	ENSP00000292599:P420T	P	+	1	0	MAML1	179125875	0.001000	0.12720	0.011000	0.14972	0.419000	0.31324	0.276000	0.18716	0.122000	0.18314	-0.680000	0.03767	CCG		0.657	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	170	5	170	---	---	---	---	A	179193269	C	A	179193269	3	1	9	1	0	0	0	0	1	0	0	0	9205	623	22	1	1264	1	MAML1	5	179193269	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1477918	179193269	1721991	314	553										
MAPK9	5601	broad.mit.edu	37	chr5	179676014	179676014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggatgacttcgggcgccCggtagtaccgtgtcaccacg	13	14	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.chr5:179676014C>A	ENST00000452135.2	-	6	873	c.575G>T	c.(574-576)cGg>cTg	p.R192L	MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L|MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R192L(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-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;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGGCGCCCGGTAGTACCG	0.552																																						ENST00000452135.2																			4	Substitution - Missense(4)	p.R192L(4)	lung(4)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(574-576)cGg>cTg		mitogen-activated protein kinase 9							218	230	226					5																	179676014		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676014C>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.575G>T	5.37:g.179676014C>A	ENSP00000394560:p.Arg192Leu		Somatic				MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L	p.R192L			WXS	Illumina GAIIx	Phase_I	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	873	-	all_cancers(89;6.54e-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;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	192			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.575G>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459528	0.84317	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.59	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070647	0.56097	N	0.000024	D	0.85544	0.5721	L	0.58669	1.825	0.80722	D	1	B;B;P;B;P	0.48230	0.253;0.116;0.536;0.154;0.907	B;B;B;B;P	0.51385	0.155;0.119;0.168;0.11;0.668	D	0.87005	0.2119	10	0.87932	D	0	-8.9828	14.4306	0.67246	0.0:0.9295:0.0:0.0705	.	192;192;192;192;192	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	L	192	ENSP00000394560:R192L;ENSP00000377028:R192L;ENSP00000389338:R192L;ENSP00000345524:R192L;ENSP00000321410:R192L;ENSP00000397422:R192L;ENSP00000443149:R192L	ENSP00000345524:R192L	R	-	2	0	MAPK9	179608620	1.000000	0.71417	0.977000	0.42913	0.498000	0.33706	7.711000	0.84669	1.376000	0.46267	0.650000	0.86243	CGG		0.552	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			6	515	6	515	---	---	---	---	A	179676014	C	A	179676014	3	1	9	1	0	0	0	0	1	0	0	0	9287	652	23	1	849	1	MAPK9	5	179676014	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	482745	179676014	1239246	315	554										
TRIM52	84851	broad.mit.edu	37	chr5	180687287	180687287	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggtgaactgccctggaagGggcaaggaaggaggcgggtg	20	7	0	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.chr5:180687287G>T	ENST00000327767.4	-	1	832	c.528C>A	c.(526-528)ccC>ccA	p.P176P	TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	176					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GCCCTGGAAGGGGCAAGGAAG	0.527																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(526-528)ccC>ccA		tripartite motif containing 52							139	117	124					5																	180687287		2203	4300	6503	SO:0001819	synonymous_variant	84851					intracellular	zinc ion binding	g.chr5:180687287G>T		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.528C>A	5.37:g.180687287G>T			Somatic				CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	p.P176P	NM_032765.2	NP_116154.1	WXS	Illumina GAIIx	Phase_I	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	832	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	176						Silent	SNP	ENST00000327767.4	37	c.528C>A	CCDS4467.1																																																																																				0.527	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		8	259	8	259	---	---	---	---	T	180687287	G	T	180687287	2	4	9	1	0	0	0	0	0	0	0	1	16524	1219	43	1		1	TRIM52	5	180687287	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1011273	180687287	227973	316	555										
TFAP2A	7020	broad.mit.edu	37	chr6	10400801	10400801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcacacgtacccaaagtccCtggctaggtggacagcttct	10	14	1	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.chr6:10400801C>A	ENST00000482890.1	-	7	1257	c.905G>T	c.(904-906)aGg>aTg	p.R302M	TFAP2A_ENST00000379613.3_Missense_Mutation_p.R304M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	302	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|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 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)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCCAAAGTCCCTGGCTAGGTG	0.527																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(910-912)aGg>aTg		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							104	94	97					6																	10400801		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10400801C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.905G>T	6.37:g.10400801C>A	ENSP00000418541:p.Arg302Met		Somatic				TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R302M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M	p.R304M			WXS	Illumina GAIIx	Phase_I	P05549	AP2A_HUMAN			6	1167	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	302			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.911G>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627158	0.87560	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.29	5.29	0.74685	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;0.995;1.0	P;D;D	0.76071	0.832;0.934;0.987	D	0.99777	1.1026	10	0.87932	D	0	-8.466	18.9454	0.92620	0.0:1.0:0.0:0.0	.	298;302;296	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	M	304;302;298;296;302	ENSP00000368933:R304M;ENSP00000368924:R302M;ENSP00000316516:R298M;ENSP00000368928:R296M;ENSP00000418541:R302M	ENSP00000316516:R298M	R	-	2	0	TFAP2A	10508787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.463000	0.83235	0.655000	0.94253	AGG		0.527	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		5	140	5	140	---	---	---	---	A	10400801	C	A	10400801	3	1	9	1	0	0	0	0	1	0	0	0	15784	681	24	1	416	1	TFAP2A	6	10400801	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		10400801	160714266	317	556										
ERVFRDE1	405754	broad.mit.edu	37	chr6	11105026	11105026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagtaatatttggaggtttgGggaatcttggttgatggcgg	16	2	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.chr6:11105026G>T	ENST00000472091.1	-	2	893	c.518C>A	c.(517-519)cCc>cAc	p.P173H	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	173					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGGAGGTTTGGGGAATCTTGG	0.443																																						ENST00000472091.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						c.(517-519)cCc>cAc									157	171	166					6																	11105026		2203	4300	6503	SO:0001583	missense	405754					integral to membrane|plasma membrane|virion		g.chr6:11105026G>T	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.518C>A	6.37:g.11105026G>T	ENSP00000420174:p.Pro173His		Somatic				ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron	p.P173H	NM_207582.2	NP_997465.1	WXS	Illumina GAIIx	Phase_I	P60508	EFRD1_HUMAN			2	893	-			173						Missense_Mutation	SNP	ENST00000472091.1	37	c.518C>A	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868544	0.51588	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.14266	2.52;2.52	0.235	0.235	0.15431	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.21290	N	0.999735	B	0.14438	0.01	B	0.15484	0.013	T	0.45279	-0.9272	8	0.66056	D	0.02	.	.	.	.	.	173	P60508	EFRD1_HUMAN	H	173	ENSP00000420174:P173H;ENSP00000444461:P173H	ENSP00000420174:P173H	P	-	2	0	ERVFRD-1	11213012	0.697000	0.27767	0.858000	0.33744	0.860000	0.49131	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CCC		0.443	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		9	662	9	662	---	---	---	---	T	11105026	G	T	11105026	3	4	9	1	0	0	0	0	1	0	0	0	5246	1232	43	1	1102	1	ERVFRDE1	6	11105026	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	704225	11105026	160010041	318	557										
TBC1D7	51256	broad.mit.edu	37	chr6	13316809	13316809	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaaagccctcaccaactgGggcaaggaatcccggtactt	9	12	1	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.chr6:13316809G>T	ENST00000379300.3	-	5	756	c.513C>A	c.(511-513)ccC>ccA	p.P171P	TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000607658.1_Silent_p.P144P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	171	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)			TCACCAACTGGGGCAAGGAAT	0.478																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(430-432)ccC>ccA		TBC1 domain family, member 7																																				SO:0001819	synonymous_variant	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316809G>T	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.513C>A	6.37:g.13316809G>T			Somatic				TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000379300.3_Silent_p.P171P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR	p.P144P			WXS	Illumina GAIIx	Phase_I	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	582	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	171			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	c.432C>A	CCDS4523.1																																																																																				0.478	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		7	256	7	256	---	---	---	---	T	13316809	G	T	13316809	2	4	9	1	0	0	0	0	0	0	0	1	15621	1219	43	1		1	TBC1D7	6	13316809	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2211783	13316809	157798258	319	558										
BTN2A1	11120	broad.mit.edu	37	chr6	26465542	26465542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaaaaaagattctgtcagGggaaaaggagtttgaacggg	15	3	2	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.chr6:26465542G>T	ENST00000312541.5	+	5	1090	c.842G>T	c.(841-843)gGg>gTg	p.G281V	BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V|BTN2A1_ENST00000429381.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	281					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATTCTGTCAGGGGAAAAGGAG	0.403																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(841-843)gGg>gTg		butyrophilin, subfamily 2, member A1							125	127	126					6																	26465542		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465542G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.842G>T	6.37:g.26465542G>T	ENSP00000312158:p.Gly281Val		Somatic				BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V	p.G281V			WXS	Illumina GAIIx	Phase_I	Q7KYR7	BT2A1_HUMAN			5	1054	+			281					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.842G>T	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.632|6.632	0.485067|0.485067	0.12641|0.12641	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185|ENST00000480218	T;T;T;T|.	0.76578|.	-0.44;1.14;-1.03;-1.03|.	3.78|3.78	-7.49|-7.49	0.01355|0.01355	.|.	1.922150|1.922150	0.03008|0.03008	N|N	0.149080|0.149080	T|T	0.30293|0.30293	0.0760|0.0760	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	B;B;B|.	0.21071|.	0.001;0.051;0.003|.	B;B;B|.	0.16722|.	0.005;0.016;0.003|.	T|T	0.52668|0.52668	-0.8545|-0.8545	10|7	0.16896|0.72032	T|D	0.51|0.01	.|.	6.2491|6.2491	0.20835|0.20835	0.0:0.2736:0.1707:0.5557|0.0:0.2736:0.1707:0.5557	.|.	220;281;281|.	B4DLP9;Q96AV7;Q7KYR7|.	.;.;BT2A1_HUMAN|.	V|W	281;220;281;267;281|30	ENSP00000312158:G281V;ENSP00000443909:G220V;ENSP00000416945:G281V;ENSP00000419043:G281V|.	ENSP00000265424:G267V|ENSP00000418936:G30W	G|G	+|+	2|1	0|0	BTN2A1|BTN2A1	26573521|26573521	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.815000|-0.815000	0.04481|0.04481	-1.045000|-1.045000	0.03250|0.03250	0.455000|0.455000	0.32223|0.32223	GGG|GGG		0.403	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		6	215	6	215	---	---	---	---	T	26465542	G	T	26465542	3	4	9	1	0	0	0	0	1	0	0	0	1560	1232	43	1	856	1	BTN2A1	6	26465542	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13148733	26465542	144649525	320	559										
MAS1L	116511	broad.mit.edu	37	chr6	29454728	29454728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttttctttctgaggctccCcacaaagaaataaatgatag	6	10	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.chr6:29454728C>A	ENST00000377127.3	-	1	1010	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	318					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGAGGCTCCCCACAAAGAAA	0.443																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(952-954)Ggg>Tgg		MAS1 oncogene-like							74	81	79					6																	29454728		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454728C>A	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.952G>T	6.37:g.29454728C>A	ENSP00000366331:p.Gly318Trp		Somatic					p.G318W	NM_052967.1	NP_443199.1	WXS	Illumina GAIIx	Phase_I	P35410	MAS1L_HUMAN			1	1010	-			318					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.952G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605544	0.28623	.	.	ENSG00000204687	ENST00000377127	T	0.38722	1.12	2.36	1.43	0.22495	.	.	.	.	.	T	0.45458	0.1343	M	0.70108	2.13	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21621	-1.0240	9	0.87932	D	0	.	8.0457	0.30547	0.2445:0.7554:0.0:0.0	.	318	P35410	MAS1L_HUMAN	W	318	ENSP00000366331:G318W	ENSP00000366331:G318W	G	-	1	0	MAS1L	29562707	0.053000	0.20554	0.001000	0.08648	0.001000	0.01503	1.467000	0.35321	0.332000	0.23536	-0.269000	0.10298	GGG		0.443	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		6	271	6	271	---	---	---	---	A	29454728	C	A	29454728	3	1	9	1	0	0	0	0	1	0	0	0	9321	623	22	1	186	1	MAS1L	6	29454728	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2989186	29454728	141660339	321	560										
HLA-F	3134	broad.mit.edu	37	chr6	29694719	29694719	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcaagcttatttctcctgGgggtgctcttccaaggatat	11	9	3	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.chr6:29694719G>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Missense_Mutation_p.G237W|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W|HLA-F_ENST00000475996.1_Intron			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)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTTCTCCTGGGGGTGCTCTT	0.493																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(709-711)Ggg>Tgg		major histocompatibility complex, class I, F							121	140	133					6																	29694719		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.chr6:29694719G>T	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.29694719G>T			Somatic				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W	p.G237W			WXS	Illumina GAIIx	Phase_I	P30511	HLAF_HUMAN			6	1068	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.709G>T	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.859|8.859	0.946369|0.946369	0.18356|0.18356	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000444621	T;T|.	0.01076|.	5.37;5.52|.	0.62|0.62	-0.357|-0.357	0.12579|0.12579	.|.	.|.	.|.	.|.	.|.	T|T	0.14184|0.14184	0.0343|0.0343	L|L	0.36672|0.36672	1.1|1.1	0.26451|0.26451	N|N	0.975615|0.975615	D;P|.	0.71674|.	0.998;0.923|.	D;B|.	0.69654|.	0.965;0.347|.	T|T	0.31251|0.31251	-0.9950|-0.9950	9|5	0.87932|.	D|.	0|.	.|.	6.1676|6.1676	0.20398|0.20398	0.0:0.3213:0.6787:0.0|0.0:0.3213:0.6787:0.0	.|.	366;366|.	A8MVU7;P30511-3|.	.;.|.	W|C	343;366;280;237|47	ENSP00000259951:G366W;ENSP00000404130:G237W|.	ENSP00000259951:G366W|.	G|W	+|+	1|3	0|0	HLA-F|HLA-F	29802698|29802698	1.000000|1.000000	0.71417|0.71417	0.443000|0.443000	0.26883|0.26883	0.036000|0.036000	0.12997|0.12997	3.721000|3.721000	0.54941|0.54941	-0.214000|-0.214000	0.10078|0.10078	-0.465000|-0.465000	0.05216|0.05216	GGG|TGG		0.493	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		6	285	6	285	---	---	---	---	T	29694719	G	T	29694719	1	4	9	0	1	0	0	0	0	0	0	0	7211	1232	43	1		1	HLA-F	6	29694719	IGR	SNP	G	TCGA-CH-5739-01A-11D-1576-08	239991	29694719	141420348	322	561										
TRIM10	10107	broad.mit.edu	37	chr6	30128473	30128473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgcagagtgggcaagtagGggactcctccaggtctgggc	16	9	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.chr6:30128473G>T	ENST00000449742.2	-	1	238	c.163C>A	c.(163-165)Cct>Act	p.P55T	TRIM15_ENST00000376688.1_5'Flank|TRIM15_ENST00000376694.4_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	55					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						GGGCAAGTAGGGGACTCCTCC	0.617																																						ENST00000449742.2																			0				ovary(1)	1						c.(163-165)Cct>Act		tripartite motif containing 10							150	158	155					6																	30128473		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128473G>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.163C>A	6.37:g.30128473G>T	ENSP00000397073:p.Pro55Thr		Somatic				TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T	p.P55T	NM_006778.3	NP_006769.2	WXS	Illumina GAIIx	Phase_I	Q9UDY6	TRI10_HUMAN			1	238	-			55					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.163C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606460	0.28623	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.07216	3.21;3.21	5.26	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.288557	0.24907	N	0.034642	T	0.02571	0.0078	N	0.16790	0.44	0.09310	N	1	P;P	0.43938	0.822;0.634	P;B	0.46389	0.515;0.367	T	0.44544	-0.9321	10	0.23302	T	0.38	.	10.114	0.42579	0.0932:0.0:0.9068:0.0	.	55;55	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	55	ENSP00000397073:P55T;ENSP00000365894:P55T	ENSP00000365894:P55T	P	-	1	0	TRIM10	30236452	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	0.502000	0.22594	1.369000	0.46134	0.549000	0.68633	CCT		0.617	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			9	318	9	318	---	---	---	---	T	30128473	G	T	30128473	3	4	9	1	0	0	0	0	1	0	0	0	16483	1232	43	1	1398	1	TRIM10	6	30128473	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	433754	30128473	140986594	323	562										
MDC1	9656	broad.mit.edu	37	chr6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggtggctggactccagGggtcacatagatctcatagc	14	9	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.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2. {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						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6013-6015)Cct>Act	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							134	129	131					6																	30670419		1510	2709	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.chr6:30670419G>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.6013C>A	6.37:g.30670419G>T	ENSP00000365588:p.Pro2005Thr		Somatic				MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	p.P2005T	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			14	6660	-			2005			BRCT 2.|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.6013C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892431	0.72524	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.89746	-2.56;-2.56	5.88	4.97	0.65823	BRCT (2);	0.000000	0.35555	N	0.003121	D	0.93314	0.7869	M	0.80183	2.485	0.39444	D	0.967295	D;D	0.89917	0.977;1.0	P;D	0.75020	0.848;0.985	D	0.93624	0.6950	10	0.72032	D	0.01	-13.8612	14.2819	0.66219	0.0:0.1498:0.8502:0.0	.	2005;982	Q14676;Q14676-4	MDC1_HUMAN;.	T	2005;1741;1718;1571	ENSP00000365588:P2005T;ENSP00000365587:P1741T	ENSP00000365587:P1741T	P	-	1	0	MDC1	30778398	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.035000	0.49759	2.800000	0.96347	0.650000	0.86243	CCT		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	188	6	188	---	---	---	---	T	30670419	G	T	30670419	3	4	9	1	0	0	0	0	1	0	0	0	9403	1232	43	1	264	1	MDC1	6	30670419	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	541946	30670419	140444648	324	563										
SKIV2L	6499	broad.mit.edu	37	chr6	31927105	31927105	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagatcccctggacctaccCcttcgggccgtggagctcgg	12	17	0	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.chr6:31927105C>A	ENST00000375394.2	+	2	167	c.54C>A	c.(52-54)ccC>ccA	p.P18P	NELFE_ENST00000444811.2_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	18					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						TGGACCTACCCCTTCGGGCCG	0.567																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(52-54)ccC>ccA		superkiller viralicidic activity 2-like (S. cerevisiae)							269	310	295					6																	31927105		1511	2709	4220	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31927105C>A		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.54C>A	6.37:g.31927105C>A			Somatic				SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	p.P18P	NM_006929.4	NP_008860.4	WXS	Illumina GAIIx	Phase_I	Q15477	SKIV2_HUMAN			2	167	+			18					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.54C>A	CCDS4731.1																																																																																				0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			8	577	8	577	---	---	---	---	A	31927105	C	A	31927105	2	1	9	1	0	0	0	0	0	0	0	1	14359	610	22	1		1	SKIV2L	6	31927105	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1256686	31927105	139187962	325	564										
SKIV2L	6499	broad.mit.edu	37	chr6	31930234	31930234	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaccatctacacttcgccCatcaaggccctgagcaacca	6	17	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.chr6:31930234C>A	ENST00000375394.2	+	11	1196	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	SKIV2L_ENST00000544581.1_Silent_p.P168P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	361	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)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACTTCGCCCATCAAGGCCC	0.597																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1081-1083)ccC>ccA		superkiller viralicidic activity 2-like (S. cerevisiae)							89	79	82					6																	31930234		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930234C>A		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.1083C>A	6.37:g.31930234C>A			Somatic				SKIV2L_ENST00000544581.1_Silent_p.P168P	p.P361P	NM_006929.4	NP_008860.4	WXS	Illumina GAIIx	Phase_I	Q15477	SKIV2_HUMAN			11	1196	+			361			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1083C>A	CCDS4731.1																																																																																				0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			5	125	5	125	---	---	---	---	A	31930234	C	A	31930234	2	1	9	1	0	0	0	0	0	0	0	1	14359	581	21	1		1	SKIV2L	6	31930234	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3129	31930234	139184833	326	565										
HLA-DMB	3109	broad.mit.edu	37	chr6	32905075	32905075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtctccattgggctgggCagtcttgtgcgcactgctgt	13	12	2	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.chr6:32905075C>A	ENST00000418107.2	-	3	758	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.A166S|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	166	Beta-2.|Ig-like C1-type.				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)	p.A166S(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGGCTGGGCAGTCTTGTGC	0.562																																						ENST00000416244.2																			4	Substitution - Missense(4)	p.A166S(4)	cervix(2)|prostate(2)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(496-498)Gcc>Tcc		major histocompatibility complex, class II, DM beta							172	128	143					6																	32905075		2203	4300	6503	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.chr6:32905075C>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.496G>T	6.37:g.32905075C>A	ENSP00000398890:p.Ala166Ser		Somatic				HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A166S	p.A166S			WXS	Illumina GAIIx	Phase_I	P28068	DMB_HUMAN			3	690	-			166			Beta-2.|Ig-like C1-type.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.496G>T	CCDS4760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870109|1.870109	0.33069|0.33069	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244|ENST00000414017	T;T;T|.	0.13538|.	2.58;6.28;6.28|.	4.56|4.56	0.722|0.722	0.18225|0.18225	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	1.327040|.	0.04955|.	N|.	0.460905|.	T|T	0.09158|0.09158	0.0226|0.0226	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B;P|.	0.38020|.	0.06;0.428;0.086;0.038;0.615|.	B;P;B;B;P|.	0.50970|.	0.155;0.578;0.222;0.405;0.655|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.87932|.	D|.	0|.	.|.	3.4002|3.4002	0.07320|0.07320	0.18:0.5253:0.0:0.2947|0.18:0.5253:0.0:0.2947	.|.	166;166;48;55;166|.	E9PD01;A2AAT3;B0V061;B0V062;P28068|.	.;.;.;.;DMB_HUMAN|.	S|F	48;166;166;166|55	ENSP00000390848:A48S;ENSP00000398890:A166S;ENSP00000391010:A166S|.	ENSP00000391010:A166S|.	A|C	-|-	1|2	0|0	HLA-DMB|HLA-DMB	33013053|33013053	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.307000|0.307000	0.27823|0.27823	-0.689000|-0.689000	0.05144|0.05144	0.012000|0.012000	0.14892|0.14892	-0.477000|-0.477000	0.04895|0.04895	GCC|TGC		0.562	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		5	200	5	200	---	---	---	---	A	32905075	C	A	32905075	3	1	9	1	0	0	0	0	1	0	0	0	7199	710	25	3	311	3	HLA-DMB	6	32905075	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	974841	32905075	138209992	327	566										
B3GALT4	8705	broad.mit.edu	37	chr6	33246264	33246264	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacggggaaaggactgcgccCttttgctcctggttccaggg	15	11	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.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			Somatic					p.P356P	NM_003782.3	NP_003773.1	WXS	Illumina GAIIx	Phase_I	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			6	258	6	258	---	---	---	---	A	33246264	C	A	33246264	2	1	9	1	0	0	0	0	0	0	0	1	1249	668	24	1		1	B3GALT4	6	33246264	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	341189	33246264	137868803	328	567										
KIFC1	3833	broad.mit.edu	37	chr6	33374079	33374079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attccagctacagatttctgGggagcactccagccgaggcc	11	13	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.chr6:33374079G>T	ENST00000428849.2	+	8	2093	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	548	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGATTTCTGGGGAGCACTCC	0.657																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1642-1644)gGg>gTg		kinesin family member C1							94	107	103					6																	33374079		2203	4300	6503	SO:0001583	missense	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.chr6:33374079G>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.1643G>T	6.37:g.33374079G>T	ENSP00000393963:p.Gly548Val		Somatic					p.G548V	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	Q9BW19	KIFC1_HUMAN			8	2093	+			548			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1643G>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	g	19.79	3.893451	0.72639	.	.	ENSG00000237649	ENST00000428849	T	0.74842	-0.88	5.11	4.24	0.50183	Kinesin, motor domain (4);	0.053360	0.85682	D	0.000000	T	0.73361	0.3577	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77443	-0.2586	10	0.87932	D	0	-8.1345	9.1413	0.36906	0.098:0.0:0.902:0.0	.	540;548	B4E063;Q9BW19	.;KIFC1_HUMAN	V	548	ENSP00000393963:G548V	ENSP00000393963:G548V	G	+	2	0	KIFC1	33482057	1.000000	0.71417	0.991000	0.47740	0.749000	0.42624	8.104000	0.89551	1.362000	0.46000	0.558000	0.71614	GGG		0.657	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		7	255	7	255	---	---	---	---	T	33374079	G	T	33374079	3	4	9	1	0	0	0	0	1	0	0	0	8312	1232	43	1	1673	1	KIFC1	6	33374079	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	127815	33374079	137740988	329	568										
ANKS1A	23294	broad.mit.edu	37	chr6	34985545	34985545	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctacctcacaggcctgccCaccaccaacagccgctcgca	8	20	1	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.chr6:34985545C>A	ENST00000360359.3	+	11	1857	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	573					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						CAGGCCTGCCCACCACCAACA	0.647																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1717-1719)ccC>ccA		ankyrin repeat and sterile alpha motif domain containing 1A							60	67	65					6																	34985545		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985545C>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.1719C>A	6.37:g.34985545C>A			Somatic				ANKS1A_ENST00000535627.1_Intron	p.P573P	NM_015245.2	NP_056060.2	WXS	Illumina GAIIx	Phase_I	Q92625	ANS1A_HUMAN			11	1857	+			573					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1719C>A	CCDS4798.1																																																																																				0.647	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		5	113	5	113	---	---	---	---	A	34985545	C	A	34985545	2	1	9	1	0	0	0	0	0	0	0	1	688	581	21	1		1	ANKS1A	6	34985545	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1611466	34985545	136129522	330	569										
SLC26A8	116369	broad.mit.edu	37	chr6	35980014	35980014	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcatatcttccttaccttgGggaacttgcacaaggccaac	7	12	2	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.chr6:35980014G>T	ENST00000490799.1	-	3	677	c.324C>A	c.(322-324)ccC>ccA	p.P108P	SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	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						CCTTACCTTGGGGAACTTGCA	0.423																																						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.(322-324)ccC>ccA		solute carrier family 26 (anion exchanger), member 8							261	247	252					6																	35980014		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.chr6:35980014G>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.324C>A	6.37:g.35980014G>T			Somatic				SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	p.P108P	NM_052961.3	NP_443193.1	WXS	Illumina GAIIx	Phase_I	Q96RN1	S26A8_HUMAN			3	677	-			108						Silent	SNP	ENST00000490799.1	37	c.324C>A	CCDS4813.1																																																																																				0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			9	548	9	548	---	---	---	---	T	35980014	G	T	35980014	2	4	9	1	0	0	0	0	0	0	0	1	14523	1219	43	1		1	SLC26A8	6	35980014	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	994469	35980014	135135053	331	570										
C6orf222	389384	broad.mit.edu	37	chr6	36297859	36297859	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaggcacggtccgctcaccCctgcgagctgggcccaggtc	13	17	1	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.chr6:36297859C>A	ENST00000437635.2	-	2	786	c.609G>T	c.(607-609)agG>agT	p.R203S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	203										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGCTCACCCCTGCGAGCTG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(607-609)agG>agT		chromosome 6 open reading frame 222							54	54	54					6																	36297859		2203	4300	6503	SO:0001630	splice_region_variant	389384							g.chr6:36297859C>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.610+1G>T	6.37:g.36297859C>A			Somatic					p.R203S	NM_001010903.4	NP_001010903.3	WXS	Illumina GAIIx	Phase_I	P0C671	CF222_HUMAN			2	786	-			203					B2RTY8	Splice_Site	SNP	ENST00000437635.2	37	c.609G>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095629	0.36952	.	.	ENSG00000189325	ENST00000437635	T	0.57595	0.39	4.35	1.43	0.22495	.	1.287410	0.05386	N	0.538213	T	0.29126	0.0724	L	0.43152	1.355	0.24481	N	0.994341	P	0.46784	0.884	P	0.45538	0.484	T	0.14117	-1.0484	10	0.42905	T	0.14	-44.0895	5.4671	0.16650	0.0:0.6095:0.0:0.3905	.	203	P0C671	CF222_HUMAN	S	203	ENSP00000418983:R203S	ENSP00000418983:R203S	R	-	3	2	C6orf222	36405837	0.268000	0.24133	0.751000	0.31187	0.186000	0.23388	0.311000	0.19380	0.514000	0.28300	0.442000	0.29010	AGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	Missense_Mutation	6	107	6	107	---	---	---	---	A	36297859	C	A	36297859	5	1	9	1	0	0	0	0	0	0	1	0	2356	637	22	1	1393	1	C6orf222	6	36297859	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	317845	36297859	134817208	332	571										
ETV7	51513	broad.mit.edu	37	chr6	36334671	36334671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgaacaggagtttctgccCcggttccttcttaatgatat	8	11	2	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.chr6:36334671C>A	ENST00000340181.4	-	7	1130	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	ETV7_ENST00000538992.1_Missense_Mutation_p.G146W|ETV7_ENST00000373738.1_Missense_Mutation_p.G242W|ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	297					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTTTCTGCCCCGGTTCCTTC	0.552																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(724-726)Ggg>Tgg		ets variant 7							182	199	193					6																	36334671		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36334671C>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.889G>T	6.37:g.36334671C>A	ENSP00000341843:p.Gly297Trp		Somatic				ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000340181.4_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W	p.G242W	NM_001207036.1	NP_001193965.1	WXS	Illumina GAIIx	Phase_I	Q9Y603	ETV7_HUMAN			6	1569	-			297					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.724G>T	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967488	0.53507	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.58	3.71	0.42584	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.062783	0.64402	D	0.000005	T	0.68393	0.2996	M	0.93550	3.43	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.77469	-0.2576	10	0.87932	D	0	.	12.399	0.55402	0.0:0.9165:0.0:0.0835	.	238;220;242;297;242;297	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	W	297;297;220;242;146	ENSP00000342260:G297W;ENSP00000341843:G297W;ENSP00000362842:G220W;ENSP00000362843:G242W;ENSP00000440592:G146W	ENSP00000342260:G297W	G	-	1	0	ETV7	36442649	1.000000	0.71417	0.596000	0.28811	0.482000	0.33219	5.367000	0.66127	0.916000	0.36871	0.655000	0.94253	GGG		0.552	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		9	588	9	588	---	---	---	---	A	36334671	C	A	36334671	3	1	9	1	0	0	0	0	1	0	0	0	5284	623	22	1	144	1	ETV7	6	36334671	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	36812	36334671	134780396	333	572										
RNF8	9025	broad.mit.edu	37	chr6	37336306	37336306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgcgtctggaacctttaaGggtctattccattcatcagg	10	10	4	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.chr6:37336306G>T	ENST00000373479.4	+	3	480	c.287G>T	c.(286-288)aGg>aTg	p.R96M	RNF8_ENST00000469731.1_Missense_Mutation_p.R96M|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	96					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						GAACCTTTAAGGGTCTATTCC	0.413																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(286-288)aGg>aTg		ring finger protein 8, E3 ubiquitin protein ligase							121	124	123					6																	37336306		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.chr6:37336306G>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.287G>T	6.37:g.37336306G>T	ENSP00000362578:p.Arg96Met		Somatic				RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R96M	p.R96M	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	WXS	Illumina GAIIx	Phase_I	O76064	RNF8_HUMAN			3	480	+			96					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.287G>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500739	0.64298	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;D;D	0.87256	-2.23;-2.23;-2.23	5.85	2.29	0.28610	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.356561	0.31760	N	0.007120	T	0.77955	0.4208	L	0.45228	1.405	0.80722	D	1	P;P	0.52577	0.954;0.644	P;B	0.48488	0.579;0.441	T	0.77776	-0.2461	10	0.72032	D	0.01	-1.5359	8.3073	0.32049	0.7687:0.0:0.2313:0.0	.	39;96	C9J858;O76064	.;RNF8_HUMAN	M	96;39;96	ENSP00000362578:R96M;ENSP00000417736:R39M;ENSP00000418879:R96M	ENSP00000362578:R96M	R	+	2	0	RNF8	37444284	1.000000	0.71417	0.932000	0.37286	0.956000	0.61745	2.487000	0.45268	0.489000	0.27749	-0.302000	0.09304	AGG		0.413	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			6	367	6	367	---	---	---	---	T	37336306	G	T	37336306	3	4	9	1	0	0	0	0	1	0	0	0	13500	1000	35	1	297	1	RNF8	6	37336306	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1001635	37336306	133778761	334	573										
MDFI	4188	broad.mit.edu	37	chr6	41617368	41617368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctccaggccagcctcagGggaaccccttgggctgcacc	11	17	2	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.chr6:41617368G>T	ENST00000373050.4	+	3	275	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W				Q99750	MDFI_HUMAN	MyoD family inhibitor	91					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)			CCAGCCTCAGGGGAACCCCTT	0.632																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(88-90)Ggg>Tgg		MyoD family inhibitor							131	157	148					6																	41617368		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.chr6:41617368G>T	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.88G>T	6.37:g.41617368G>T	ENSP00000362141:p.Gly30Trp		Somatic					p.G30W			WXS	Illumina GAIIx	Phase_I	Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		3	275	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		91						Missense_Mutation	SNP	ENST00000373050.4	37	c.88G>T		.	.	.	.	.	.	.	.	.	.	G	19.28	3.797488	0.70567	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000441667;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000446650;ENST00000435476	.	.	.	5.64	5.64	0.86602	.	0.487758	0.19824	N	0.105227	T	0.65291	0.2677	L	0.56769	1.78	0.35723	D	0.817327	D	0.89917	1.0	D	0.74348	0.983	T	0.69390	-0.5158	9	0.66056	D	0.02	-19.1563	13.3407	0.60542	0.0:0.2043:0.7957:0.0	.	91	Q99750	MDFI_HUMAN	W	91;91;91;91;91;91;30;91;30	.	ENSP00000230321:G91W	G	+	1	0	MDFI	41725346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.635000	0.61332	2.655000	0.90218	0.655000	0.94253	GGG		0.632	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		8	442	8	442	---	---	---	---	T	41617368	G	T	41617368	3	4	9	1	0	0	0	0	1	0	0	0	9404	1232	43	1	281	1	MDFI	6	41617368	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4281062	41617368	129497699	335	574										
CUL9	23113	broad.mit.edu	37	chr6	43166385	43166385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagggtcaggatgggtccCctgagctactgattcgatcc	12	12	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.chr6:43166385C>A	ENST00000252050.4	+	12	2926	c.2842C>A	c.(2842-2844)Cct>Act	p.P948T	CUL9_ENST00000372647.2_Missense_Mutation_p.P948T|CUL9_ENST00000354495.3_Missense_Mutation_p.P838T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	948					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						GGATGGGTCCCCTGAGCTACT	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.(2842-2844)Cct>Act		cullin 9							118	121	120					6																	43166385		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.chr6:43166385C>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.2842C>A	6.37:g.43166385C>A	ENSP00000252050:p.Pro948Thr		Somatic				CUL9_ENST00000354495.3_Missense_Mutation_p.P838T|CUL9_ENST00000372647.2_Missense_Mutation_p.P948T	p.P948T	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			12	2926	+			948					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2842C>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093191	0.56075	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73258	-0.73;-0.73;-0.63	5.28	3.38	0.38709	Armadillo-type fold (1);	0.731865	0.12895	N	0.430284	T	0.43765	0.1262	L	0.43923	1.385	0.28302	N	0.923072	P;P;P	0.40660	0.726;0.565;0.565	B;B;B	0.37650	0.255;0.079;0.079	T	0.19614	-1.0300	10	0.44086	T	0.13	-6.6985	8.6407	0.33974	0.0:0.7025:0.2025:0.095	.	838;948;948	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	948;838;948	ENSP00000252050:P948T;ENSP00000346490:P838T;ENSP00000361730:P948T	ENSP00000252050:P948T	P	+	1	0	CUL9	43274363	0.436000	0.25586	1.000000	0.80357	0.988000	0.76386	0.714000	0.25808	1.227000	0.43598	0.555000	0.69702	CCT		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	331	7	331	---	---	---	---	A	43166385	C	A	43166385	3	1	9	1	0	0	0	0	1	0	0	0	4061	623	22	1	2884	1	CUL9	6	43166385	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1549017	43166385	127948682	336	575										
ABCC10	89845	broad.mit.edu	37	chr6	43416688	43416688	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcgggaaaacctggacccCcagggcctacataaggacag	12	12	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.chr6:43416688C>A	ENST00000372530.4	+	19	4244	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	ABCC10_ENST00000244533.3_Silent_p.P1315P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1343	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	ACCTGGACCCCCAGGGCCTAC	0.562																																						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.(3943-3945)ccC>ccA		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							60	60	60					6																	43416688		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43416688C>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.4029C>A	6.37:g.43416688C>A			Somatic				ABCC10_ENST00000372530.4_Silent_p.P1343P	p.P1315P	NM_033450.2	NP_258261.2	WXS	Illumina GAIIx	Phase_I	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)		17	4304	+	all_lung(25;0.00536)		1343			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3945C>A	CCDS56430.1																																																																																				0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		4	76	4	76	---	---	---	---	A	43416688	C	A	43416688	2	1	9	1	0	0	0	0	0	0	0	1	50	610	22	1		1	ABCC10	6	43416688	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	250303	43416688	127698379	337	576										
XPO5	57510	broad.mit.edu	37	chr6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaatgtttgctggatgtccCttcttctttgagggggaagt	12	6	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.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					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)			CTGGATGTCCCTTCTTCTTTG	0.413																																						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.(526-528)aGg>aTg		exportin 5							182	178	179					6																	43538333		1888	4118	6006	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538333C>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.527G>T	6.37:g.43538333C>A	ENSP00000265351:p.Arg176Met		Somatic					p.R176M	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	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)		5	737	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		176					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.527G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263879	0.95399	.	.	ENSG00000124571	ENST00000265351	T	0.46819	0.86	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.58891	-0.7556	10	0.41790	T	0.15	-17.2057	20.3668	0.98882	0.0:1.0:0.0:0.0	.	176	Q9HAV4	XPO5_HUMAN	M	176	ENSP00000265351:R176M	ENSP00000265351:R176M	R	-	2	0	XPO5	43646311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	AGG		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		6	381	6	381	---	---	---	---	A	43538333	C	A	43538333	3	1	9	1	0	0	0	0	1	0	0	0	17444	681	24	1	3199	1	XPO5	6	43538333	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	121645	43538333	127576734	338	577										
SLC25A27	9481	broad.mit.edu	37	chr6	46623673	46623673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtgcaagagaatctgcccCctataggggaatggtgcgca	14	10	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.chr6:46623673C>A	ENST00000371347.5	+	2	452	c.200C>A	c.(199-201)cCc>cAc	p.P67H	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|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	67					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)			GAATCTGCCCCCTATAGGGGA	0.507																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(199-201)cCc>cAc		solute carrier family 25, member 27							104	106	105					6																	46623673		1886	4113	5999	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623673C>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.200C>A	6.37:g.46623673C>A	ENSP00000360398:p.Pro67His		Somatic				SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR	p.P67H	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	WXS	Illumina GAIIx	Phase_I	O95847	UCP4_HUMAN	Lung(136;0.192)		2	452	+			67					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.200C>A	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875760	0.51695	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	T;T	0.79033	-1.23;-1.23	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.149882	0.45606	D	0.000353	T	0.67683	0.2919	L	0.47716	1.5	0.80722	D	1	B;B	0.23249	0.082;0.013	B;B	0.32022	0.139;0.023	T	0.67971	-0.5532	10	0.52906	T	0.07	-10.6744	16.9173	0.86154	0.0:1.0:0.0:0.0	.	67;67	O95847;F5GWR4	UCP4_HUMAN;.	H	67	ENSP00000360398:P67H;ENSP00000412024:P67H	ENSP00000360398:P67H	P	+	2	0	SLC25A27	46731632	0.782000	0.28689	0.959000	0.39883	0.971000	0.66376	3.872000	0.56085	2.564000	0.86499	0.650000	0.86243	CCC		0.507	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		6	188	6	188	---	---	---	---	A	46623673	C	A	46623673	3	1	9	1	0	0	0	0	1	0	0	0	14490	623	22	1	206	1	SLC25A27	6	46623673	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3085340	46623673	124491394	339	578										
PKHD1	5314	broad.mit.edu	37	chr6	51609253	51609253	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaactggtggaggcagaccCagggctctcccatccagatc	12	13	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.chr6:51609253C>A	ENST00000371117.3	-	60	10361	c.10086G>T	c.(10084-10086)ctG>ctT	p.L3362L	PKHD1_ENST00000340994.4_Silent_p.L3362L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3362					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)					GAGGCAGACCCAGGGCTCTCC	0.448																																						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.(10084-10086)ctG>ctT		polycystic kidney and hepatic disease 1 (autosomal recessive)							108	106	107					6																	51609253		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.chr6:51609253C>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.10086G>T	6.37:g.51609253C>A			Somatic				PKHD1_ENST00000340994.4_Silent_p.L3362L	p.L3362L	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			60	10361	-	Lung NSC(77;0.0605)		3362					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10086G>T	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	258	6	258	---	---	---	---	A	51609253	C	A	51609253	2	1	9	1	0	0	0	0	0	0	0	1	11971	581	21	1		1	PKHD1	6	51609253	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4985580	51609253	119505814	340	579										
PKHD1	5314	broad.mit.edu	37	chr6	51777278	51777278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgatgacaacttcatccCcagggttccagtccacagca	8	13	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.chr6:51777278C>A	ENST00000371117.3	-	38	6493	c.6218G>T	c.(6217-6219)gGg>gTg	p.G2073V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2073					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)					AACTTCATCCCCAGGGTTCCA	0.473																																						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.(6217-6219)gGg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							170	155	160					6																	51777278		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.chr6:51777278C>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.6218G>T	6.37:g.51777278C>A	ENSP00000360158:p.Gly2073Val		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	p.G2073V	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			38	6493	-	Lung NSC(77;0.0605)		2073					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6218G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259294	0.80246	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.98028	-4.67;-4.67	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.87097	2.86	0.80722	D	1	D;P;D	0.71674	0.998;0.588;0.982	D;B;P	0.71870	0.975;0.315;0.693	D	0.99453	1.0941	10	0.87932	D	0	.	15.9758	0.80063	0.0:1.0:0.0:0.0	.	2073;2073;2073	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2073	ENSP00000360158:G2073V;ENSP00000341097:G2073V	ENSP00000341097:G2073V	G	-	2	0	PKHD1	51885237	0.960000	0.32886	0.943000	0.38184	0.982000	0.71751	4.133000	0.57983	2.847000	0.97988	0.655000	0.94253	GGG		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	294	6	294	---	---	---	---	A	51777278	C	A	51777278	3	1	9	1	0	0	0	0	1	0	0	0	11971	623	22	1	6165	1	PKHD1	6	51777278	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	168025	51777278	119337789	341	580										
C6orf142	90523	broad.mit.edu	37	chr6	53989461	53989461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttattgtggactccgaagGggaagatgaggctgcaagca	14	8	0	2	rs143336016		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.chr6:53989461G>T	ENST00000274897.5	+	3	523	c.410G>T	c.(409-411)gGg>gTg	p.G137V	MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000514921.1_Missense_Mutation_p.G137V|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	137						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.G137V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTCCGAAGGGGAAGATGAG	0.502																																						ENST00000514921.1																			1	Substitution - Missense(1)	p.G137V(1)	lung(1)	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.(409-411)gGg>gTg		muscular LMNA-interacting protein							95	95	95					6																	53989461		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989461G>T	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.410G>T	6.37:g.53989461G>T	ENSP00000274897:p.Gly137Val		Somatic				MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000274897.5_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	p.G137V	NM_001281746.1	NP_001268675.1	WXS	Illumina GAIIx	Phase_I	Q5VWP3	MLIP_HUMAN			3	523	+			137					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.410G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260010	0.80246	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;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;0.67;0.67	5.68	5.68	0.88126	.	0.221256	0.40908	D	0.000999	T	0.59905	0.2228	M	0.68952	2.095	0.58432	D	0.999999	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;0.988;0.996	T	0.58736	-0.7584	9	.	.	.	-10.9228	15.2975	0.73922	0.0:0.0:1.0:0.0	.	148;148;75;137;137	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	V	137;137;85;85;75;19;19;96;148;131;19;138	ENSP00000274897:G137V;ENSP00000425142:G137V;ENSP00000359914:G85V;ENSP00000427584:G85V;ENSP00000359913:G75V;ENSP00000411917:G19V;ENSP00000427057:G19V;ENSP00000426830:G96V;ENSP00000426290:G148V;ENSP00000351019:G131V;ENSP00000421444:G138V	.	G	+	2	0	MLIP	54097420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.759000	0.55227	2.673000	0.90976	0.650000	0.86243	GGG		0.502	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		9	197	9	197	---	---	---	---	T	53989461	G	T	53989461	3	4	9	1	0	0	0	0	1	0	0	0	2333	1232	43	1	420	1	C6orf142	6	53989461	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2212183	53989461	117125606	342	581										
DST	667	broad.mit.edu	37	chr6	56481294	56481294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattggaaatgttcctctccCcaaatggaaacagaaagcat	8	9	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.chr6:56481294C>A	ENST00000370765.6	-	24	7078	c.6971G>T	c.(6970-6972)gGg>gTg	p.G2324V	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1657					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)			GTTCCTCTCCCCAAATGGAAA	0.383																																						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.(6970-6972)gGg>gTg		dystonin							87	86	86					6																	56481294		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.chr6:56481294C>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	ENST00000370765.6:c.6971G>T	6.37:g.56481294C>A	ENSP00000359801:p.Gly2324Val		Somatic				DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	p.G2324V	NM_001723.5	NP_001714.1	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	7078	-	Lung NSC(77;0.103)		1657					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.6971G>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936434	0.34189	.	.	ENSG00000151914	ENST00000370765	T	0.72725	-0.68	5.62	5.62	0.85841	.	.	.	.	.	T	0.81380	0.4810	.	.	.	0.19575	N	0.999966	D	0.89917	1.0	D	0.81914	0.995	T	0.76702	-0.2862	7	0.31617	T	0.26	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	2324	Q03001-3	.	V	2324	ENSP00000359801:G2324V	ENSP00000359801:G2324V	G	-	2	0	DST	56589253	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.920000	0.63390	2.810000	0.96702	0.650000	0.86243	GGG		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		6	251	6	251	---	---	---	---	A	56481294	C	A	56481294	3	1	9	1	0	0	0	0	1	0	0	0	4783	623	22	1	13428	1	DST	6	56481294	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2491833	56481294	114633773	343	582										
BAI3	577	broad.mit.edu	37	chr6	70034913	70034913	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgctttttgtgccttggatgGggtaagcatattgatatacc	11	7	0	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.chr6:70034913G>T	ENST00000370598.1	+	21	3785	c.2964G>T	c.(2962-2964)tgG>tgT	p.W988C	BAI3_ENST00000238918.8_Splice_Site_p.W194C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	988					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)				GCCTTGGATGGGGTAAGCATA	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.(2962-2964)tgG>tgT		brain-specific angiogenesis inhibitor 3							173	166	168					6																	70034913		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034913G>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.2965+1G>T	6.37:g.70034913G>T			Somatic				BAI3_ENST00000238918.8_Splice_Site_p.W194C	p.W988C	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			21	3785	+		all_lung(197;0.212)	988					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	c.2964G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703418	0.88924	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.62788	0.0;0.0	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.86025	0.1509	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	194;988;988	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	988;194	ENSP00000359630:W988C;ENSP00000238918:W194C	ENSP00000238918:W194C	W	+	3	0	BAI3	70091634	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.885000	0.99019	0.655000	0.94253	TGG		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Missense_Mutation	7	214	7	214	---	---	---	---	T	70034913	G	T	70034913	5	4	9	1	0	0	0	0	0	0	1	0	1300	1246	43	1	3038	1	BAI3	6	70034913	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13553619	70034913	101080154	344	583										
COL12A1	1303	broad.mit.edu	37	chr6	75884838	75884838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agataaggcgtattgtgtccCttccttcaatccctgcagca	8	12	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.chr6:75884838C>A	ENST00000322507.8	-	13	2935	c.2626G>T	c.(2626-2628)Ggg>Tgg	p.G876W	COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	876	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						TATTGTGTCCCTTCCTTCAAT	0.498																																						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.(2626-2628)Ggg>Tgg		collagen, type XII, alpha 1							274	271	272					6																	75884838		2027	4171	6198	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.chr6:75884838C>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.2626G>T	6.37:g.75884838C>A	ENSP00000325146:p.Gly876Trp		Somatic				COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W	p.G876W	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			13	2935	-			876			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2626G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400917	0.62177	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.63417	-0.04;-0.04;-0.04	5.94	5.94	0.96194	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.163547	0.42420	D	0.000709	T	0.73194	0.3556	M	0.72353	2.195	0.44155	D	0.996953	D	0.89917	1.0	D	0.83275	0.996	T	0.75822	-0.3182	10	0.87932	D	0	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	876	Q99715	COCA1_HUMAN	W	876	ENSP00000325146:G876W;ENSP00000412864:G876W;ENSP00000421216:G876W	ENSP00000325146:G876W	G	-	1	0	COL12A1	75941558	1.000000	0.71417	0.906000	0.35671	0.455000	0.32408	4.675000	0.61619	2.812000	0.96745	0.557000	0.71058	GGG		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	347	6	347	---	---	---	---	A	75884838	C	A	75884838	3	1	9	1	0	0	0	0	1	0	0	0	3669	681	24	1	6781	1	COL12A1	6	75884838	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5849925	75884838	95230229	345	584										
FILIP1	27145	broad.mit.edu	37	chr6	76124424	76124424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgactctacctgcaactcccCttccattatactgagtagtt	5	13	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.chr6:76124424C>A	ENST00000237172.7	-	2	595	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	FILIP1_ENST00000393004.2_Missense_Mutation_p.G89W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	89				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). {ECO:0000305}.						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						TGCAACTCCCCTTCCATTATA	0.383																																						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.(265-267)Ggg>Tgg		filamin A interacting protein 1							177	170	172					6																	76124424		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124424C>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.265G>T	6.37:g.76124424C>A	ENSP00000237172:p.Gly89Trp		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.G89W	p.G89W			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			2	486	-			89	ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).				B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.265G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861844	0.71949	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.74002	-0.8;-0.8	5.75	5.75	0.90469	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.987	D	0.89704	0.3907	10	0.87932	D	0	-26.6688	19.9353	0.97137	0.0:1.0:0.0:0.0	.	89;89;89	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	89	ENSP00000376728:G89W;ENSP00000237172:G89W	ENSP00000237172:G89W	G	-	1	0	FILIP1	76181144	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.743000	0.68655	2.704000	0.92352	0.655000	0.94253	GGG		0.383	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	489	7	489	---	---	---	---	A	76124424	C	A	76124424	3	1	9	1	0	0	0	0	1	0	0	0	5894	681	24	1	3396	1	FILIP1	6	76124424	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	239586	76124424	94990643	346	585										
SYNCRIP	10492	broad.mit.edu	37	chr6	86324701	86324701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acccctcgcaccacgtacccCgcggcctctttgttgttggg	10	17	1	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.chr6:86324701C>A	ENST00000369622.3	-	11	2145	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	549	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				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)		CCACGTACCCCGCGGCCTCTT	0.602																																						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.(1645-1647)Ggg>Tgg		synaptotagmin binding, cytoplasmic RNA interacting protein							139	147	144					6																	86324701		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.chr6:86324701C>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.1645G>T	6.37:g.86324701C>A	ENSP00000358635:p.Gly549Trp		Somatic				SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A	p.G549W	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	WXS	Illumina GAIIx	Phase_I	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1851	-		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)	549			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1645G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726885	0.30593	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.33654	1.4;1.45	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;B	0.15930	0.003;0.005;0.0;0.002;0.015;0.005;0.003	B;B;B;B;B;B;B	0.15052	0.003;0.012;0.0;0.001;0.012;0.012;0.003	T	0.06481	-1.0824	10	0.51188	T	0.08	.	15.2216	0.73316	0.1418:0.8582:0.0:0.0	.	549;514;451;397;514;549;549	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	W	549	ENSP00000347380:G549W;ENSP00000358635:G549W	ENSP00000347380:G549W	G	-	1	0	SYNCRIP	86381420	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.676000	0.84012	1.223000	0.43536	0.563000	0.77884	GGG		0.602	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		6	298	6	298	---	---	---	---	A	86324701	C	A	86324701	3	1	9	1	0	0	0	0	1	0	0	0	15441	652	23	1	276	1	SYNCRIP	6	86324701	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	10200277	86324701	84790366	347	586										
ZNF292	23036	broad.mit.edu	37	chr6	87943065	87943065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgaatttttagcttttgaGggtcccatcttgttggatat	9	5	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.chr6:87943065G>T	ENST00000369577.3	+	5	604	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	187						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)		TAGCTTTTGAGGGTCCCATCT	0.303																																						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.(559-561)gaG>gaT		zinc finger protein 292							60	57	58					6																	87943065		1811	4073	5884	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943065G>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.561G>T	6.37:g.87943065G>T	ENSP00000358590:p.Glu187Asp		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	p.E187D	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	604	+		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)	187					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.561G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755095	0.69648	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.32272	1.53;1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.76574	2.34	0.34632	D	0.719694	D	0.58268	0.982	P	0.55112	0.769	T	0.46652	-0.9176	10	0.87932	D	0	.	7.3046	0.26440	0.2044:0.0:0.7956:0.0	.	187	O60281	ZN292_HUMAN	D	187;182	ENSP00000358590:E187D;ENSP00000342847:E182D	ENSP00000342847:E182D	E	+	3	2	ZNF292	87999784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.348000	0.52209	2.671000	0.90904	0.563000	0.77884	GAG		0.303	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	103	4	103	---	---	---	---	T	87943065	G	T	87943065	3	4	9	1	0	0	0	0	1	0	0	0	17823	991	35	1	579	1	ZNF292	6	87943065	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1618364	87943065	83172002	348	587										
MDN1	23195	broad.mit.edu	37	chr6	90424370	90424370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcaaatccaggttgtctgGggtgcttgcatccccttccc	9	13	2	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.chr6:90424370G>T	ENST00000369393.3	-	46	7076	c.6961C>A	c.(6961-6963)Cca>Aca	p.P2321T	MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2321					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)		AGGTTGTCTGGGGTGCTTGCA	0.493																																						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.(6961-6963)Cca>Aca		MDN1, midasin homolog (yeast)							149	122	131					6																	90424370		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90424370G>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.6961C>A	6.37:g.90424370G>T	ENSP00000358400:p.Pro2321Thr		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T	p.P2321T			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	46	7076	-		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)	2321					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6961C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	2.810	-0.247262	0.05867	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03094	4.05;4.05	5.01	4.14	0.48551	.	0.422018	0.26058	N	0.026598	T	0.01287	0.0042	L	0.51422	1.61	0.25534	N	0.987249	B	0.22800	0.075	B	0.20384	0.029	T	0.46789	-0.9166	10	0.17369	T	0.5	.	8.3057	0.32041	0.2544:0.0:0.7456:0.0	.	2321	Q9NU22	MDN1_HUMAN	T	2321	ENSP00000358400:P2321T;ENSP00000413970:P2321T	ENSP00000358400:P2321T	P	-	1	0	MDN1	90481091	0.960000	0.32886	0.068000	0.19968	0.075000	0.17131	2.003000	0.40844	1.238000	0.43771	0.637000	0.83480	CCA		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	168	5	168	---	---	---	---	T	90424370	G	T	90424370	3	4	9	1	0	0	0	0	1	0	0	0	9415	1232	43	1	10057	1	MDN1	6	90424370	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2481305	90424370	80690697	349	588										
SIM1	6492	broad.mit.edu	37	chr6	100841442	100841442	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggggaggcctttgtcagGggcaaggctgcgcgagagcc	18	10	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.chr6:100841442G>T	ENST00000369208.3	-	11	2273	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	SIM1_ENST00000262901.4_Silent_p.P497P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	497	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)		CCTTTGTCAGGGGCAAGGCTG	0.612																																						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.(1489-1491)ccC>ccA		single-minded family bHLH transcription factor 1							77	79	78					6																	100841442		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.chr6:100841442G>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.1491C>A	6.37:g.100841442G>T			Somatic				SIM1_ENST00000262901.4_Silent_p.P497P	p.P497P			WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2273	-		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)	497			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1491C>A	CCDS5045.1																																																																																				0.612	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	155	6	155	---	---	---	---	T	100841442	G	T	100841442	2	4	9	1	0	0	0	0	0	0	0	1	14323	1219	43	1		1	SIM1	6	100841442	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	10417072	100841442	70273625	350	589										
ARMC2	84071	broad.mit.edu	37	chr6	109215669	109215669	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttatgtattcctcctaGggaccaggggaagagacatg	12	7	0	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.chr6:109215669G>T	ENST00000392644.4	+	6	839		c.e6-1		ARMC2_ENST00000368972.3_Splice_Site	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2											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)		ATTCCTCCTAGGGACCAGGGG	0.453																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.e6-1		armadillo repeat containing 2							101	97	98					6																	109215669		2203	4300	6503	SO:0001630	splice_region_variant	84071						binding	g.chr6:109215669G>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.672-1G>T	6.37:g.109215669G>T			Somatic				ARMC2_ENST00000368972.3_Splice_Site		NM_032131.4	NP_115507.4	WXS	Illumina GAIIx	Phase_I	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)	6	839	+		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)						A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Splice_Site	SNP	ENST00000392644.4	37		CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032652	0.54790	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5305	0.67923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC2	109322362	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	4.425000	0.59875	2.885000	0.99019	0.655000	0.94253	.		0.453	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	Intron	5	150	5	150	---	---	---	---	T	109215669	G	T	109215669	5	4	9	1	0	0	0	0	0	0	1	0	951	1014	35	1	689	1	ARMC2	6	109215669	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8374227	109215669	61899398	351	590										
MICAL1	64780	broad.mit.edu	37	chr6	109768401	109768401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggacatagaggtgttccCcacaaagtgcacacaggtcc	10	13	0	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.chr6:109768401C>A	ENST00000358807.3	-	17	2413	c.2102G>T	c.(2101-2103)gGg>gTg	p.G701V	MICAL1_ENST00000368952.4_Missense_Mutation_p.G720V|MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	701	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		GAGGTGTTCCCCACAAAGTGC	0.612																																						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.(2158-2160)gGg>gTg		microtubule associated monooxygenase, calponin and LIM domain containing 1							112	113	113					6																	109768401		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768401C>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.2102G>T	6.37:g.109768401C>A	ENSP00000351664:p.Gly701Val		Somatic				MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V|MICAL1_ENST00000358807.3_Missense_Mutation_p.G701V	p.G720V			WXS	Illumina GAIIx	Phase_I	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)	17	2449	-		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)	701			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2159G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793637	0.90453	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.87887	-2.31;-2.31;-2.31	5.89	5.89	0.94794	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.90870	3.155	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	0.94542	0.7746	10	0.62326	D	0.03	.	15.7619	0.78091	0.0:1.0:0.0:0.0	.	720;615;701	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	V	701;720;615;225	ENSP00000351664:G701V;ENSP00000357948:G720V;ENSP00000351385:G615V	ENSP00000351385:G615V	G	-	2	0	MICAL1	109875094	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.954000	0.63631	2.793000	0.96121	0.655000	0.94253	GGG		0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		5	123	5	123	---	---	---	---	A	109768401	C	A	109768401	3	1	9	1	0	0	0	0	1	0	0	0	9569	623	22	1	1137	1	MICAL1	6	109768401	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	552732	109768401	61346666	352	591										
SLC22A16	85413	broad.mit.edu	37	chr6	110746101	110746101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccaagaccagaatccctgGgggtaatcgcttccgttttt	9	12	0	2	rs373092945		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.chr6:110746101G>T	ENST00000368919.3	-	8	1775	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	570					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)	AGAATCCCTGGGGGTAATCGC	0.418																																						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.(1708-1710)cCc>cAc		solute carrier family 22 (organic cation/carnitine transporter), member 16							139	132	134					6																	110746101		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.chr6:110746101G>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.1709C>A	6.37:g.110746101G>T	ENSP00000357915:p.Pro570His		Somatic				SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	p.P570H	NM_033125.3	NP_149116.2	WXS	Illumina GAIIx	Phase_I	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1775	-		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)	570					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1709C>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355043	0.24512	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.69175	-0.17;-0.38	4.96	-0.873	0.10635	.	6.802490	0.00166	N	0.000000	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	P;P	0.43094	0.697;0.799	B;P	0.47134	0.338;0.539	T	0.23726	-1.0180	10	0.45353	T	0.12	.	3.6709	0.08273	0.4593:0.0:0.3648:0.1759	.	570;536	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	H	570;536	ENSP00000357915:P570H;ENSP00000328583:P536H	ENSP00000328583:P536H	P	-	2	0	SLC22A16	110852794	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.322000	0.19576	0.104000	0.17725	0.591000	0.81541	CCC		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		6	302	6	302	---	---	---	---	T	110746101	G	T	110746101	3	4	9	1	0	0	0	0	1	0	0	0	14447	1232	43	1	28	1	SLC22A16	6	110746101	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	977700	110746101	60368966	353	592										
SLC16A10	117247	broad.mit.edu	37	chr6	111540220	111540220	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcggattcatgtctataccCatgactgttggcccacccat	7	14	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.chr6:111540220C>A	ENST00000368851.5	+	5	1465	c.1290C>A	c.(1288-1290)ccC>ccA	p.P430P	SLC16A10_ENST00000368850.3_Silent_p.P116P	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	430					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)				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)	TGTCTATACCCATGACTGTTG	0.393																																						ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(346-348)ccC>ccA		solute carrier family 16 (aromatic amino acid transporter), member 10							117	104	109					6																	111540220		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.chr6:111540220C>A	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.1290C>A	6.37:g.111540220C>A			Somatic				SLC16A10_ENST00000368851.5_Silent_p.P430P	p.P116P			WXS	Illumina GAIIx	Phase_I	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	4	834	+		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)	430					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.348C>A	CCDS5089.1																																																																																				0.393	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			4	123	4	123	---	---	---	---	A	111540220	C	A	111540220	2	1	9	1	0	0	0	0	0	0	0	1	14403	581	21	1		1	SLC16A10	6	111540220	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	794119	111540220	59574847	354	593										
COL10A1	1300	broad.mit.edu	37	chr6	116446572	116446572	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgggccttttatgcctgtGggcatttggtatcgttcagc	13	8	1	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.chr6:116446572G>T	ENST00000327673.4	-	1	491	c.84C>A	c.(82-84)ccC>ccA	p.P28P	COL10A1_ENST00000243222.4_Silent_p.P28P|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				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)		TTATGCCTGTGGGCATTTGGT	0.393																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(82-84)ccC>ccA		collagen, type X, alpha 1							266	247	253					6																	116446572		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116446572G>T		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.84C>A	6.37:g.116446572G>T			Somatic				NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P	p.P28P			WXS	Illumina GAIIx	Phase_I	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)	1	491	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	28			Nonhelical region (NC2).		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.84C>A	CCDS5105.1																																																																																				0.393	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			7	499	7	499	---	---	---	---	T	116446572	G	T	116446572	2	4	9	1	0	0	0	0	0	0	0	1	3666	1335	47	1		1	COL10A1	6	116446572	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4906352	116446572	54668495	355	594										
FAM26E	254228	broad.mit.edu	37	chr6	116832984	116832984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttgtggcttttaagtgccCctgcagcactgagaatatga	11	8	0	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.chr6:116832984C>A	ENST00000368599.3	+	1	176	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	42					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)		TTTAAGTGCCCCTGCAGCACT	0.468																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(124-126)cCc>cAc		family with sequence similarity 26, member E							135	131	133					6																	116832984		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116832984C>A	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.125C>A	6.37:g.116832984C>A	ENSP00000357588:p.Pro42His		Somatic				TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	p.P42H	NM_153711.2	NP_714922.1	WXS	Illumina GAIIx	Phase_I	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	176	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	42					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.125C>A	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375492	0.82682	.	.	ENSG00000178033	ENST00000368599	T	0.70045	-0.45	5.63	4.77	0.60923	.	0.049043	0.85682	D	0.000000	T	0.80571	0.4648	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85236	0.1035	10	0.87932	D	0	-7.4825	13.8889	0.63726	0.0:0.9268:0.0:0.0732	.	42	Q8N5C1	FA26E_HUMAN	H	42	ENSP00000357588:P42H	ENSP00000357588:P42H	P	+	2	0	FAM26E	116939677	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.565000	0.67365	1.518000	0.48934	0.655000	0.94253	CCC		0.468	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		6	224	6	224	---	---	---	---	A	116832984	C	A	116832984	3	1	9	1	0	0	0	0	1	0	0	0	5550	623	22	1	127	1	FAM26E	6	116832984	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	386412	116832984	54282083	356	595										
LAMA2	3908	broad.mit.edu	37	chr6	129785457	129785457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaggtggaagatagtgagGggactattcaatttgatgga	14	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.chr6:129785457G>T	ENST00000421865.2	+	50	7064	c.7015G>T	c.(7015-7017)Ggg>Tgg	p.G2339W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2339					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)		AGATAGTGAGGGGACTATTCA	0.418																																						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.(7015-7017)Ggg>Tgg		laminin, alpha 2							223	183	196					6																	129785457		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.chr6:129785457G>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.7015G>T	6.37:g.129785457G>T	ENSP00000400365:p.Gly2339Trp		Somatic					p.G2339W	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	50	7064	+			2339					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7015G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848626	0.91277	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79554	-1.28	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);	0.089429	0.85682	D	0.000000	D	0.83876	0.5349	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80970	-0.1144	9	.	.	.	.	20.1922	0.98231	0.0:0.0:1.0:0.0	.	2340;2339	A6NF00;P24043	.;LAMA2_HUMAN	W	2339;2338;2339;357	ENSP00000400365:G2339W	.	G	+	1	0	LAMA2	129827150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.352000	0.97076	2.767000	0.95098	0.655000	0.94253	GGG		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			8	272	8	272	---	---	---	---	T	129785457	G	T	129785457	3	4	9	1	0	0	0	0	1	0	0	0	8606	1232	43	1	7213	1	LAMA2	6	129785457	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	12952473	129785457	41329610	357	596										
LAMA2	3908	broad.mit.edu	37	chr6	129837448	129837448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggttaattttgccaaggccCtggaactgaggggcgttcaa	13	8	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.chr6:129837448C>A	ENST00000421865.2	+	65	9374	c.9325C>A	c.(9325-9327)Ctg>Atg	p.L3109M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3109	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)		TGCCAAGGCCCTGGAACTGAG	0.468																																						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.(9325-9327)Ctg>Atg		laminin, alpha 2							81	73	76					6																	129837448		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.chr6:129837448C>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.9325C>A	6.37:g.129837448C>A	ENSP00000400365:p.Leu3109Met		Somatic					p.L3109M	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	65	9374	+			3109			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9325C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400370	0.62177	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.45668	0.89	5.79	1.07	0.20283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.170474	0.44483	D	0.000443	T	0.36991	0.0987	L	0.51422	1.61	0.40003	D	0.975182	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	T	0.21143	-1.0254	9	.	.	.	.	6.027	0.19660	0.1309:0.4842:0.0:0.3849	.	3110;3109	A6NF00;P24043	.;LAMA2_HUMAN	M	3109;3108;3109	ENSP00000400365:L3109M	.	L	+	1	2	LAMA2	129879141	0.974000	0.33945	0.974000	0.42286	0.993000	0.82548	1.293000	0.33353	0.055000	0.16094	-0.181000	0.13052	CTG		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	92	4	92	---	---	---	---	A	129837448	C	A	129837448	3	1	9	1	0	0	0	0	1	0	0	0	8606	680	24	1	9583	1	LAMA2	6	129837448	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	51991	129837448	41277619	358	597										
CTAGE9	643854	broad.mit.edu	37	chr6	132030025	132030025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcttctcatgaatgggccCcttgtatccactggaaacaa	7	13	2	1	rs540978239		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.chr6:132030025C>A	ENST00000314099.8	-	1	2181	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	711	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TGAATGGGCCCCTTGTATCCA	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(2131-2133)agG>agT		CTAGE family, member 9							25	25	25					6																	132030025		670	1591	2261	SO:0001583	missense	643854					integral to membrane		g.chr6:132030025C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.2133G>T	6.37:g.132030025C>A	ENSP00000395587:p.Arg711Ser		Somatic				ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.R711S	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	WXS	Illumina GAIIx	Phase_I	A4FU28	CTGE9_HUMAN			1	2181	-			711			Pro-rich.			Missense_Mutation	SNP	ENST00000314099.8	37	c.2133G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	10.90	1.481855	0.26598	.	.	ENSG00000236761	ENST00000314099	T	0.10382	2.88	.	.	.	.	.	.	.	.	T	0.15565	0.0375	M	0.87758	2.905	0.09310	N	1	D	0.61697	0.99	P	0.59357	0.856	T	0.04268	-1.0964	6	0.37606	T	0.19	.	.	.	.	.	711	A4FU28	CTGE9_HUMAN	S	711	ENSP00000395587:R711S	ENSP00000395587:R711S	R	-	3	2	CTAGE9	132071718	0.720000	0.27996	.	.	.	.	0.917000	0.28665	.	.	.	.	AGG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		8	288	8	288	---	---	---	---	A	132030025	C	A	132030025	3	1	9	1	0	0	0	0	1	0	0	0	3996	622	22	1	204	1	CTAGE9	6	132030025	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2192577	132030025	39085042	359	598										
ENPP3	5169	broad.mit.edu	37	chr6	132047228	132047228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgccatttgggaggcctaGggtactgcagaagaacgtgg	15	7	0	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.chr6:132047228G>T	ENST00000414305.1	+	21	2169	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M|ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	614	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)			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)		GGGAGGCCTAGGGTACTGCAG	0.388																																						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.(1840-1842)aGg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 3							142	134	137					6																	132047228		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.chr6:132047228G>T	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.1841G>T	6.37:g.132047228G>T	ENSP00000406261:p.Arg614Met		Somatic				ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M	p.R614M			WXS	Illumina GAIIx	Phase_I	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	21	2169	+	Breast(56;0.0753)		614			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1841G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126528	0.56721	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75050	-0.55;-0.55;-0.9	5.4	3.52	0.40303	.	0.478199	0.21197	N	0.078530	T	0.69061	0.3069	M	0.81497	2.545	0.53005	D	0.999966	D	0.56746	0.977	P	0.49528	0.614	T	0.73646	-0.3917	10	0.66056	D	0.02	-10.5208	5.7624	0.18207	0.2297:0.0:0.6254:0.145	.	614	O14638	ENPP3_HUMAN	M	614	ENSP00000406261:R614M;ENSP00000350265:R614M;ENSP00000350964:R614M	ENSP00000350265:R614M	R	+	2	0	ENPP3	132088921	0.009000	0.17119	0.997000	0.53966	0.740000	0.42216	0.492000	0.22435	1.413000	0.46997	0.655000	0.94253	AGG		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			5	216	5	216	---	---	---	---	T	132047228	G	T	132047228	3	4	9	1	0	0	0	0	1	0	0	0	5131	1000	35	1	1919	1	ENPP3	6	132047228	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17203	132047228	39067839	360	599										
KIAA1244	57221	broad.mit.edu	37	chr6	138583871	138583871	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaccgaagcatgcatcaaGggtggcatcgaagcttgcta	12	9	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.chr6:138583871G>T	ENST00000251691.4	+	12	1417	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N		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)		CATGCATCAAGGGTGGCATCG	0.488																																						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.(1249-1251)aaG>aaT		KIAA1244							118	110	113					6																	138583871		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138583871G>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.1251G>T	6.37:g.138583871G>T	ENSP00000251691:p.Lys417Asn		Somatic					p.K417N	NM_020340.4	NP_065073.3	WXS	Illumina GAIIx	Phase_I	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1417	+	Breast(32;0.135)		417						Missense_Mutation	SNP	ENST00000251691.4	37	c.1251G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521028	0.44866	.	.	ENSG00000112379	ENST00000251691	T	0.04275	3.66	5.82	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.07324	0.0185	L	0.57536	1.79	0.43160	D	0.99494	D	0.76494	0.999	D	0.78314	0.991	T	0.19224	-1.0312	10	0.37606	T	0.19	-12.5314	8.8089	0.34954	0.411:0.0:0.589:0.0	.	417	Q5TH69	BIG3_HUMAN	N	417	ENSP00000251691:K417N	ENSP00000251691:K417N	K	+	3	2	KIAA1244	138625564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.051000	0.30417	0.788000	0.33755	0.655000	0.94253	AAG		0.488	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	199	5	199	---	---	---	---	T	138583871	G	T	138583871	3	4	9	1	0	0	0	0	1	0	0	0	8217	991	35	1	1297	1	KIAA1244	6	138583871	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6536643	138583871	32531196	361	600										
GPR126	57211	broad.mit.edu	37	chr6	142736944	142736944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attttttaggaaattgcgaaGggattatccctccaaaatct	7	7	1	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.chr6:142736944G>T	ENST00000230173.6	+	20	3157	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	894					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)		AAATTGCGAAGGGATTATCCC	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.(2680-2682)aGg>aTg		G protein-coupled receptor 126							86	81	83					6																	142736944		1861	4109	5970	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736944G>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.2681G>T	6.37:g.142736944G>T	ENSP00000230173:p.Arg894Met		Somatic				GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	p.R894M	NM_020455.5	NP_065188	WXS	Illumina GAIIx	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3157	+	Breast(32;0.176)		894					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2681G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168535	0.78339	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.86	5.86	0.93980	GPCR, family 2-like (1);	0.073532	0.64402	D	0.000019	T	0.70378	0.3217	M	0.90870	3.155	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;1.0;1.0;1.0	T	0.76329	-0.2999	10	0.87932	D	0	.	20.1883	0.98225	0.0:0.0:1.0:0.0	.	866;894;866;894	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	M	894;866;866;894	ENSP00000230173:R894M;ENSP00000356580:R866M;ENSP00000296932:R866M;ENSP00000356581:R894M	ENSP00000230173:R894M	R	+	2	0	GPR126	142778637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.412000	0.73303	2.776000	0.95493	0.650000	0.86243	AGG		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			5	203	5	203	---	---	---	---	T	142736944	G	T	142736944	3	4	9	1	0	0	0	0	1	0	0	0	6640	1000	35	1	2759	1	GPR126	6	142736944	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4153073	142736944	28378123	362	601										
SHPRH	257218	broad.mit.edu	37	chr6	146276179	146276179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttaactttacagacaaagGggaaaaaataccaacagtct	6	7	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.chr6:146276179G>T	ENST00000367505.2	-	2	544	c.280C>A	c.(280-282)Cct>Act	p.P94T	SHPRH_ENST00000367503.3_Missense_Mutation_p.P94T|SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	94					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)		ACAGACAAAGGGGAAAAAATA	0.363																																						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.(280-282)Cct>Act		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							114	106	108					6																	146276179		1811	4077	5888	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276179G>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.280C>A	6.37:g.146276179G>T	ENSP00000356475:p.Pro94Thr		Somatic				SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367505.2_Missense_Mutation_p.P94T	p.P94T	NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	678	-		Ovarian(120;0.0365)	94					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.280C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088565	0.20390	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.66	0.371	0.16168	.	0.595355	0.16175	N	0.226085	T	0.33904	0.0879	L	0.50333	1.59	0.09310	N	1	B;B	0.20261	0.025;0.043	B;B	0.26770	0.033;0.073	T	0.40776	-0.9545	10	0.48119	T	0.1	-2.306	8.4833	0.33057	0.3213:0.1114:0.5673:0.0	.	94;94	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	94	ENSP00000356475:P94T;ENSP00000356473:P94T;ENSP00000412797:P94T;ENSP00000275233:P94T	ENSP00000275233:P94T	P	-	1	0	SHPRH	146317872	0.135000	0.22499	0.003000	0.11579	0.678000	0.39670	0.442000	0.21628	0.131000	0.18576	0.655000	0.94253	CCT		0.363	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	311	6	311	---	---	---	---	T	146276179	G	T	146276179	3	4	9	1	0	0	0	0	1	0	0	0	14291	1232	43	1	4931	1	SHPRH	6	146276179	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3539235	146276179	24838888	363	602										
PLEKHG1	57480	broad.mit.edu	37	chr6	151161652	151161652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaatttacccttaaatgccCaaattgcaacacagaattat	4	9	0	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.chr6:151161652C>A	ENST00000358517.2	+	16	3989	c.3778C>A	c.(3778-3780)Caa>Aaa	p.Q1260K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1260K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1260							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)		CTTAAATGCCCAAATTGCAAC	0.403																																						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.(3778-3780)Caa>Aaa		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							76	76	76					6																	151161652		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161652C>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.3778C>A	6.37:g.151161652C>A	ENSP00000351318:p.Gln1260Lys		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1260K	p.Q1260K	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4090	+			1260					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3778C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796768	0.70567	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.61158	0.13;0.13	5.46	5.46	0.80206	.	0.111726	0.64402	D	0.000007	T	0.47469	0.1447	M	0.66939	2.045	0.48901	D	0.999724	P;P	0.39665	0.682;0.546	B;B	0.32980	0.156;0.156	T	0.59783	-0.7389	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:1.0:0.0:0.0	.	1067;1260	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	K	1260	ENSP00000356297:Q1260K;ENSP00000351318:Q1260K	ENSP00000351318:Q1260K	Q	+	1	0	PLEKHG1	151203345	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	5.606000	0.67641	2.726000	0.93360	0.655000	0.94253	CAA		0.403	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			5	174	5	174	---	---	---	---	A	151161652	C	A	151161652	3	1	9	1	0	0	0	0	1	0	0	0	12068	595	21	1	3836	1	PLEKHG1	6	151161652	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4885473	151161652	19953415	364	603										
SYNE1	23345	broad.mit.edu	37	chr6	152708417	152708417	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacctggctgtggttgtaaGggatgttctattttttgatc	12	5	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.chr6:152708417G>T	ENST00000367255.5	-	54	8878	c.8277C>A	c.(8275-8277)ccC>ccA	p.P2759P	SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P|SYNE1_ENST00000448038.1_Silent_p.P2766P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2759					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)		GTGGTTGTAAGGGATGTTCTA	0.478										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.(8275-8277)ccC>ccA		spectrin repeat containing, nuclear envelope 1							263	228	240					6																	152708417		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.chr6:152708417G>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.8277C>A	6.37:g.152708417G>T		HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P	p.P2759P	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8878	-		Ovarian(120;0.0955)	2759					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.8277C>A	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	239	6	239	---	---	---	---	T	152708417	G	T	152708417	2	4	9	1	0	0	0	0	0	0	0	1	15442	987	35	1		1	SYNE1	6	152708417	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1546765	152708417	18406650	365	604										
FAM120B	84498	broad.mit.edu	37	chr6	170627813	170627813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtatacagactctgaaccCaggcaagaagttcccatgta	8	10	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.chr6:170627813C>A	ENST00000476287.1	+	2	1443	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	445					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)		ACTCTGAACCCAGGCAAGAAG	0.498																																						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.(1333-1335)ccC>ccA		family with sequence similarity 120B							179	200	193					6																	170627813		2203	4300	6503	SO:0001819	synonymous_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627813C>A	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.1335C>A	6.37:g.170627813C>A			Somatic				FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	p.P445P	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	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	1443	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	445					B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	c.1335C>A	CCDS5314.1																																																																																				0.498	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		7	568	7	568	---	---	---	---	A	170627813	C	A	170627813	2	1	9	1	0	0	0	0	0	0	0	1	5417	581	21	1		1	FAM120B	6	170627813	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	17919396	170627813	487254	366	605										
CARD11	84433	broad.mit.edu	37	chr7	2985561	2985561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccacatagcccctttgccCcttggtatgtagaatgtcca	8	13	0	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.chr7:2985561C>A	ENST00000396946.4	-	4	653	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	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)			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)		CCCCTTTGCCCCTTGGTATGT	0.493			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.(250-252)Ggg>Tgg		caspase recruitment domain family, member 11							166	170	168					7																	2985561		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.chr7:2985561C>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.250G>T	7.37:g.2985561C>A	ENSP00000380150:p.Gly84Trp		Somatic				AC004906.3_ENST00000423194.1_RNA	p.G84W	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	653	-		Ovarian(82;0.0115)	84			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.250G>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820555	0.90873	.	.	ENSG00000198286	ENST00000396946	T	0.55413	0.52	5.42	5.42	0.78866	DEATH-like (2);Caspase Recruitment (2);	0.048483	0.85682	D	0.000000	T	0.77136	0.4086	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80850	-0.1198	10	0.87932	D	0	-53.868	19.2521	0.93929	0.0:1.0:0.0:0.0	.	84	Q9BXL7	CAR11_HUMAN	W	84	ENSP00000380150:G84W	ENSP00000380150:G84W	G	-	1	0	CARD11	2952087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.542000	0.85734	0.655000	0.94253	GGG		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		6	386	6	386	---	---	---	---	A	2985561	C	A	2985561	3	1	9	1	0	0	0	0	1	0	0	0	2645	623	22	1	3302	1	CARD11	7	2985561	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		2985561	156153102	367	606										
COL28A1	340267	broad.mit.edu	37	chr7	7557428	7557428	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attccagttgtgtacataccCctggacctctttctccagct	6	14	2	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.chr7:7557428C>A	ENST00000399429.3	-	7	994	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	285					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)		TGTACATACCCCTGGACCTCT	0.433																																						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.(853-855)gGg>gTg		collagen, type XXVIII, alpha 1							201	194	196					7																	7557428		1875	4116	5991	SO:0001630	splice_region_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7557428C>A	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.855+1G>T	7.37:g.7557428C>A			Somatic					p.G285V	NM_001037763.2	NP_001032852.2	WXS	Illumina GAIIx	Phase_I	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	7	994	-		Ovarian(82;0.0789)	285					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Splice_Site	SNP	ENST00000399429.3	37	c.854G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008402	0.07727	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.91631	-2.88	3.8	-0.292	0.12839	.	1.902390	0.03505	N	0.218727	T	0.75162	0.3812	N	0.00801	-1.175	0.35149	D	0.769626	B	0.10296	0.003	B	0.09377	0.004	T	0.67110	-0.5753	10	0.34782	T	0.22	2.2101	3.0593	0.06195	0.3875:0.3932:0.0:0.2193	.	285	Q2UY09	COSA1_HUMAN	V	285	ENSP00000382356:G285V	ENSP00000382347:G285V	G	-	2	0	COL28A1	7523953	0.996000	0.38824	0.410000	0.26471	0.493000	0.33554	0.295000	0.19065	-0.057000	0.13199	0.655000	0.94253	GGG		0.433	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Missense_Mutation	7	349	7	349	---	---	---	---	A	7557428	C	A	7557428	5	1	9	1	0	0	0	0	0	0	1	0	3686	637	22	1	2639	1	COL28A1	7	7557428	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4571867	7557428	151581235	368	607										
C7orf31	136895	broad.mit.edu	37	chr7	25194743	25194743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcaggtgacgtgaaggtgGggaacatggcgccgcgacag	17	10	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.chr7:25194743G>T	ENST00000409280.1	-	6	790	c.482C>A	c.(481-483)cCc>cAc	p.P161H	C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	161										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CGTGAAGGTGGGGAACATGGC	0.502																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(481-483)cCc>cAc		chromosome 7 open reading frame 31							124	128	127					7																	25194743		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25194743G>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.482C>A	7.37:g.25194743G>T	ENSP00000386604:p.Pro161His		Somatic				C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H	p.P161H			WXS	Illumina GAIIx	Phase_I	Q8N865	CG031_HUMAN			6	790	-			161					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.482C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	g	14.88	2.668411	0.47677	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.27402	1.67;1.67	5.47	4.59	0.56863	.	0.000000	0.64402	D	0.000016	T	0.53206	0.1782	M	0.74258	2.255	0.41542	D	0.988521	D	0.89917	1.0	D	0.83275	0.996	T	0.57625	-0.7779	10	0.87932	D	0	-18.7995	10.4839	0.44711	0.0899:0.0:0.9101:0.0	.	161	Q8N865	CG031_HUMAN	H	161	ENSP00000386604:P161H;ENSP00000283905:P161H	ENSP00000283905:P161H	P	-	2	0	C7orf31	25161268	1.000000	0.71417	0.893000	0.35052	0.108000	0.19459	4.472000	0.60189	1.323000	0.45263	0.563000	0.77884	CCC		0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		4	79	4	79	---	---	---	---	T	25194743	G	T	25194743	3	4	9	1	0	0	0	0	1	0	0	0	2387	1232	43	1	1310	1	C7orf31	7	25194743	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17637315	25194743	133943920	369	608										
FKBP14	55033	broad.mit.edu	37	chr7	30065991	30065991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggaccaacatcaaatccCctcctttggtcttgcgatgg	9	12	2	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.chr7:30065991C>A	ENST00000222803.5	-	1	309	c.134G>T	c.(133-135)gGg>gTg	p.G45V	PLEKHA8_ENST00000396259.1_5'Flank|PLEKHA8_ENST00000449726.1_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000258679.7_5'Flank|PLEKHA8_ENST00000396257.2_5'Flank|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	45	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				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						CATCAAATCCCCTCCTTTGGT	0.433																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(133-135)gGg>gTg		FK506 binding protein 14, 22 kDa							151	148	149					7																	30065991		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30065991C>A	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.134G>T	7.37:g.30065991C>A	ENSP00000222803:p.Gly45Val		Somatic					p.G45V	NM_017946.3	NP_060416.1	WXS	Illumina GAIIx	Phase_I	Q9NWM8	FKB14_HUMAN			1	309	-			45			PPIase FKBP-type.			Missense_Mutation	SNP	ENST00000222803.5	37	c.134G>T	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340964	0.95783	.	.	ENSG00000106080	ENST00000222803	T	0.57595	0.39	6.08	6.08	0.98989	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83948	0.0315	10	0.87932	D	0	-13.9744	19.2359	0.93858	0.0:1.0:0.0:0.0	.	45	Q9NWM8	FKB14_HUMAN	V	45	ENSP00000222803:G45V	ENSP00000222803:G45V	G	-	2	0	FKBP14	30032516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GGG		0.433	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		6	273	6	273	---	---	---	---	A	30065991	C	A	30065991	3	1	9	1	0	0	0	0	1	0	0	0	5904	623	22	1	517	1	FKBP14	7	30065991	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4871248	30065991	129072672	370	609										
AVL9	23080	broad.mit.edu	37	chr7	32582773	32582773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgaattctcttacccgccCctgattccaggagatggaca	9	12	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.chr7:32582773C>A	ENST00000318709.4	+	2	335	c.114C>A	c.(112-114)ccC>ccA	p.P38P	AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	38					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						CTTACCCGCCCCTGATTCCAG	0.423																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(112-114)ccC>ccA		AVL9 homolog (S. cerevisiase)							209	193	198					7																	32582773		2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32582773C>A	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.114C>A	7.37:g.32582773C>A			Somatic				AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P	p.P38P	NM_015060.1	NP_055875.1	WXS	Illumina GAIIx	Phase_I	Q8NBF6	AVL9_HUMAN			2	335	+			38					Q92573	Silent	SNP	ENST00000318709.4	37	c.114C>A	CCDS34613.1																																																																																				0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		8	342	8	342	---	---	---	---	A	32582773	C	A	32582773	2	1	9	1	0	0	0	0	0	0	0	1	1228	610	22	1		1	AVL9	7	32582773	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2516782	32582773	126555890	371	610										
HERPUD2	64224	broad.mit.edu	37	chr7	35674969	35674969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actaggtttggagctggtggGggttcttctccaggaacatg	15	7	2	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.chr7:35674969G>T	ENST00000396081.1	-	6	1521	c.717C>A	c.(715-717)ccC>ccA	p.P239P	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCTGGTGGGGGTTCTTCTC	0.473																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(715-717)ccC>ccA		HERPUD family member 2							151	154	153					7																	35674969		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35674969G>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.717C>A	7.37:g.35674969G>T			Somatic				HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P	p.P239P	NM_022373.4	NP_071768.3	WXS	Illumina GAIIx	Phase_I	Q9BSE4	HERP2_HUMAN			6	1521	-			239					A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.717C>A	CCDS5446.1																																																																																				0.473	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		7	327	7	327	---	---	---	---	T	35674969	G	T	35674969	2	4	9	1	0	0	0	0	0	0	0	1	7064	1219	43	1		1	HERPUD2	7	35674969	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3092196	35674969	123463694	372	611										
WBSCR28	135886	broad.mit.edu	37	chr7	73279465	73279465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggagctgcagcctgccCcctgggccaggctctctggg	15	16	1	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.chr7:73279465C>A	ENST00000320531.2	+	2	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	72						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAGCCTGCCCCCTGGGCCAG	0.667																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(214-216)cCc>cAc		Williams-Beuren syndrome chromosome region 28							62	69	67					7																	73279465		1859	4091	5950	SO:0001583	missense	135886					integral to membrane		g.chr7:73279465C>A	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.215C>A	7.37:g.73279465C>A	ENSP00000316775:p.Pro72His		Somatic					p.P72H	NM_182504.3	NP_872310.2	WXS	Illumina GAIIx	Phase_I	Q6UE05	WBS28_HUMAN			2	251	+		Lung NSC(55;0.159)	72					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.215C>A	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595956	0.46318	.	.	ENSG00000175877	ENST00000320531	T	0.21543	2.0	4.43	2.56	0.30785	.	0.352367	0.20963	N	0.082523	T	0.27454	0.0674	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.04165	-1.0972	10	0.87932	D	0	-5.5271	6.1976	0.20557	0.0:0.7085:0.1878:0.1037	.	72	Q6UE05	WBS28_HUMAN	H	72	ENSP00000316775:P72H	ENSP00000316775:P72H	P	+	2	0	WBSCR28	72917401	0.001000	0.12720	0.006000	0.13384	0.148000	0.21650	1.083000	0.30815	0.487000	0.27698	0.555000	0.69702	CCC		0.667	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		8	198	8	198	---	---	---	---	A	73279465	C	A	73279465	3	1	9	1	0	0	0	0	1	0	0	0	17264	623	22	1	221	1	WBSCR28	7	73279465	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	37604496	73279465	85859198	373	612										
LAT2	7462	broad.mit.edu	37	chr7	73635998	73635998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatggagtattacaactggGggcggttctcgaagccccca	12	12	1	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.chr7:73635998G>T	ENST00000460943.1	+	10	1253	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TTACAACTGGGGGCGGTTCTC	0.577																																						ENST00000460943.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(364-366)Ggg>Tgg		linker for activation of T cells family, member 2							104	111	109					7																	73635998		1864	4093	5957	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73635998G>T	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.364G>T	7.37:g.73635998G>T	ENSP00000420494:p.Gly122Trp		Somatic				LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W	p.G122W	NM_032464.2	NP_115853.2	WXS	Illumina GAIIx	Phase_I	Q9GZY6	NTAL_HUMAN			10	1253	+			122					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.364G>T	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015202	0.54468	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	3.5	3.5	0.40072	.	0.391487	0.19555	N	0.111476	T	0.11750	0.0286	L	0.32530	0.975	0.28751	N	0.901425	D	0.89917	1.0	D	0.83275	0.996	T	0.01133	-1.1441	10	0.87932	D	0	-29.9123	10.8031	0.46500	0.0:0.0:1.0:0.0	.	122	Q9GZY6	NTAL_HUMAN	W	122	ENSP00000344881:G122W;ENSP00000420494:G122W;ENSP00000381492:G122W;ENSP00000275635:G122W	ENSP00000275635:G122W	G	+	1	0	LAT2	73273934	0.926000	0.31397	0.506000	0.27664	0.035000	0.12851	1.571000	0.36450	2.249000	0.74217	0.561000	0.74099	GGG		0.577	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			5	187	5	187	---	---	---	---	T	73635998	G	T	73635998	3	4	9	1	0	0	0	0	1	0	0	0	8645	1232	43	1	394	1	LAT2	7	73635998	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	356533	73635998	85502665	374	613										
RFC2	5982	broad.mit.edu	37	chr7	73661093	73661093	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcctcacaacgtcaatgccCctgaaagaatgacaggtttt	7	11	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.chr7:73661093C>A	ENST00000055077.3	-	5	393	c.333G>T	c.(331-333)agG>agT	p.R111S	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	111					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CGTCAATGCCCCTGAAAGAAT	0.418																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(331-333)agG>agT		replication factor C (activator 1) 2, 40kDa							120	111	114					7																	73661093		2203	4300	6503	SO:0001630	splice_region_variant	5982				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|protein binding	g.chr7:73661093C>A		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.333-1G>T	7.37:g.73661093C>A			Somatic				RFC2_ENST00000352131.3_Intron	p.R111S	NM_181471.1	NP_852136.1	WXS	Illumina GAIIx	Phase_I	P35250	RFC2_HUMAN			5	393	-			111					B5BU07|D3DXG3|P32846|Q9BU93	Splice_Site	SNP	ENST00000055077.3	37	c.333G>T	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	c	18.21	3.572926	0.65765	.	.	ENSG00000049541	ENST00000055077	T	0.45668	0.89	5.12	3.31	0.37934	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.055382	0.85682	D	0.000000	T	0.62146	0.2404	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62849	-0.6767	10	0.87932	D	0	.	7.4122	0.27023	0.0:0.6668:0.0:0.3332	.	111	P35250	RFC2_HUMAN	S	111	ENSP00000055077:R111S	ENSP00000055077:R111S	R	-	3	2	RFC2	73299029	0.987000	0.35691	1.000000	0.80357	0.886000	0.51366	0.241000	0.18065	0.678000	0.31325	-0.170000	0.13304	AGG		0.418	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	Missense_Mutation	5	181	5	181	---	---	---	---	A	73661093	C	A	73661093	5	1	9	1	0	0	0	0	0	0	1	0	13245	637	22	1	759	1	RFC2	7	73661093	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	25095	73661093	85477570	375	614										
PCLO	27445	broad.mit.edu	37	chr7	82545722	82545722	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactggctgaattcagtttgGggagcagttcttggtcgctc	13	8	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.chr7:82545722G>T	ENST00000333891.9	-	7	11917	c.11580C>A	c.(11578-11580)ccC>ccA	p.P3860P	PCLO_ENST00000423517.2_Silent_p.P3860P|PCLO_ENST00000437081.1_Silent_p.P580P	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						ATTCAGTTTGGGGAGCAGTTC	0.463																																						ENST00000333891.9																			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.(11578-11580)ccC>ccA		piccolo presynaptic cytomatrix protein							405	400	402					7																	82545722		2017	4187	6204	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.chr7:82545722G>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.11580C>A	7.37:g.82545722G>T			Somatic				PCLO_ENST00000437081.1_Silent_p.P580P|PCLO_ENST00000423517.2_Silent_p.P3860P	p.P3860P	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	11917	-						Gln-rich.			Silent	SNP	ENST00000333891.9	37	c.11580C>A	CCDS47630.1																																																																																				0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	496	10	496	---	---	---	---	T	82545722	G	T	82545722	2	4	9	1	0	0	0	0	0	0	0	1	11583	1219	43	1		1	PCLO	7	82545722	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8884629	82545722	76592941	376	615										
CPSF4	10898	broad.mit.edu	37	chr7	99051673	99051673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcccaatcagcagagaaccCcgcaggtcatcggggtcatg	11	14	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.chr7:99051673C>A	ENST00000292476.5	+	7	665	c.655C>A	c.(655-657)Ccg>Acg	p.P219T	CPSF4_ENST00000436336.2_Missense_Mutation_p.P194T|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					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.P219T(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)					GCAGAGAACCCCGCAGGTCAT	0.557																																						ENST00000436336.2																			1	Substitution - Missense(1)	p.P219T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(580-582)Ccg>Acg		cleavage and polyadenylation specific factor 4, 30kDa							155	168	163					7																	99051673		2203	4300	6503	SO:0001583	missense	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.chr7:99051673C>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.655C>A	7.37:g.99051673C>A	ENSP00000292476:p.Pro219Thr		Somatic				CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.P219T|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron	p.P194T	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	WXS	Illumina GAIIx	Phase_I	O95639	CPSF4_HUMAN			7	741	+	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)		219					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.580C>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.697344|2.697344	0.48202|0.48202	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580	.|T;T;T;T	.|0.29655	.|1.98;1.93;1.94;1.56	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.151008|0.151008	0.64402|0.64402	D|D	0.000014|0.000014	T|T	0.24661|0.24661	0.0598|0.0598	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.001;0.001	.|B;B;B;B	.|0.08055	.|0.0;0.001;0.003;0.001	T|T	0.07424|0.07424	-1.0773|-1.0773	6|10	.|0.14656	.|T	.|0.56	-14.7418|-14.7418	19.7534|19.7534	0.96277|0.96277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;193;219;194	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	H|T	100|194;161;219;141	.|ENSP00000395311:P194T;ENSP00000396060:P161T;ENSP00000292476:P219T;ENSP00000402224:P141T	.|ENSP00000292476:P219T	P|P	+|+	2|1	0|0	CPSF4|CPSF4	98889609|98889609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	5.076000|5.076000	0.64413|0.64413	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.557	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			8	367	8	367	---	---	---	---	A	99051673	C	A	99051673	3	1	9	1	0	0	0	0	1	0	0	0	3828	623	22	1	681	1	CPSF4	7	99051673	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	16505951	99051673	60086990	377	616										
ZNF789	285989	broad.mit.edu	37	chr7	99084289	99084289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggtgatgaatacagcagGggcttccttcaaaaccttaa	10	8	1	2	rs139820028		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.chr7:99084289G>T	ENST00000331410.5	+	5	726	c.456G>T	c.(454-456)agG>agT	p.R152S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					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)					AATACAGCAGGGGCTTCCTTC	0.413																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(454-456)agG>agT		zinc finger protein 789							94	93	93					7																	99084289		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084289G>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.456G>T	7.37:g.99084289G>T	ENSP00000331927:p.Arg152Ser		Somatic				ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.R152S	NM_213603.2	NP_998768.2	WXS	Illumina GAIIx	Phase_I	Q5FWF6	ZN789_HUMAN			5	726	+	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)		152					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.456G>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306289	0.23736	.	.	ENSG00000198556	ENST00000331410	T	0.04809	3.55	2.56	-0.273	0.12915	.	.	.	.	.	T	0.06050	0.0157	L	0.59967	1.855	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.32107	-0.9919	9	0.72032	D	0.01	.	6.6381	0.22895	0.372:0.0:0.628:0.0	.	152	Q5FWF6	ZN789_HUMAN	S	152	ENSP00000331927:R152S	ENSP00000331927:R152S	R	+	3	2	ZNF789	98922225	0.000000	0.05858	0.002000	0.10522	0.151000	0.21798	0.329000	0.19698	-0.077000	0.12752	-0.781000	0.03364	AGG		0.413	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		5	191	5	191	---	---	---	---	T	99084289	G	T	99084289	3	4	9	1	0	0	0	0	1	0	0	0	18157	1223	43	1	512	1	ZNF789	7	99084289	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	32616	99084289	60054374	378	617										
ZNF394	84124	broad.mit.edu	37	chr7	99091246	99091246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactttgtctaaatctttccCcacattcaagacatttgtaa	3	10	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.chr7:99091246C>A	ENST00000337673.6	-	3	1795	c.1592G>T	c.(1591-1593)gGg>gTg	p.G531V	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	531					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)					AAATCTTTCCCCACATTCAAG	0.458																																					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.(1591-1593)gGg>gTg		zinc finger protein 394							182	177	179					7																	99091246		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091246C>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.1592G>T	7.37:g.99091246C>A	ENSP00000337363:p.Gly531Val		Somatic				ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	p.G531V	NM_032164.2	NP_115540.2	WXS	Illumina GAIIx	Phase_I	Q53GI3	ZN394_HUMAN			3	1795	-	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)		531					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1592G>T	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095730	0.76870	.	.	ENSG00000160908	ENST00000337673	T	0.06294	3.32	3.58	3.58	0.41010	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	0.29716	0.0742	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24693	-1.0153	10	0.72032	D	0.01	.	13.493	0.61407	0.0:1.0:0.0:0.0	.	531	Q53GI3	ZN394_HUMAN	V	531	ENSP00000337363:G531V	ENSP00000337363:G531V	G	-	2	0	ZNF394	98929182	0.969000	0.33509	0.999000	0.59377	0.999000	0.98932	2.301000	0.43628	2.292000	0.77174	0.655000	0.94253	GGG		0.458	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		6	391	6	391	---	---	---	---	A	99091246	C	A	99091246	3	1	9	1	0	0	0	0	1	0	0	0	17877	623	22	1	97	1	ZNF394	7	99091246	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6957	99091246	60047417	379	618										
ZKSCAN5	23660	broad.mit.edu	37	chr7	99117481	99117481	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccaagttccttcccttccCctgaaggacagccaggagct	8	16	0	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.chr7:99117481C>A	ENST00000394170.2	+	4	836	c.585C>A	c.(583-585)ccC>ccA	p.P195P	ZKSCAN5_ENST00000451158.1_Silent_p.P195P|ZKSCAN5_ENST00000326775.5_Silent_p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					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)					CTTCCCTTCCCCTGAAGGACA	0.532																																						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.(583-585)ccC>ccA		zinc finger with KRAB and SCAN domains 5							104	94	97					7																	99117481		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117481C>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.585C>A	7.37:g.99117481C>A			Somatic				ZKSCAN5_ENST00000326775.5_Silent_p.P195P|ZKSCAN5_ENST00000451158.1_Silent_p.P195P	p.P195P	NM_014569.3	NP_055384.1	WXS	Illumina GAIIx	Phase_I	Q9Y2L8	ZKSC5_HUMAN			4	836	+	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)		195					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.585C>A	CCDS5667.1																																																																																				0.532	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		5	136	5	136	---	---	---	---	A	99117481	C	A	99117481	2	1	9	1	0	0	0	0	0	0	0	1	17687	610	22	1		1	ZKSCAN5	7	99117481	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	26235	99117481	60021182	380	619										
AGFG2	3268	broad.mit.edu	37	chr7	100151028	100151028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaaggcagtgcctccaccCctgtgcagggctccatccca	9	18	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.chr7:100151028C>A	ENST00000300176.4	+	4	612	c.490C>A	c.(490-492)Cct>Act	p.P164T	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCTCCACCCCTGTGCAGGG	0.552																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(490-492)Cct>Act		ArfGAP with FG repeats 2							94	95	95					7																	100151028		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151028C>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.490C>A	7.37:g.100151028C>A	ENSP00000300176:p.Pro164Thr		Somatic				AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	p.P164T	NM_006076.4	NP_006067.3	WXS	Illumina GAIIx	Phase_I	O95081	AGFG2_HUMAN			4	612	+			164					O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.490C>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879952	0.51801	.	.	ENSG00000106351	ENST00000300176	T	0.25250	1.81	5.0	2.18	0.27775	.	0.121122	0.64402	D	0.000018	T	0.37100	0.0991	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23048	-1.0199	10	0.22109	T	0.4	-36.0199	4.4995	0.11856	0.0:0.572:0.1641:0.2639	.	164	O95081	AGFG2_HUMAN	T	164	ENSP00000300176:P164T	ENSP00000300176:P164T	P	+	1	0	AGFG2	99988964	0.349000	0.24870	0.950000	0.38849	0.896000	0.52359	0.656000	0.24948	0.389000	0.25086	0.644000	0.83932	CCT		0.552	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		5	183	5	183	---	---	---	---	A	100151028	C	A	100151028	3	1	9	1	0	0	0	0	1	0	0	0	381	623	22	1	504	1	AGFG2	7	100151028	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1033547	100151028	58987635	381	620										
ZAN	7455	broad.mit.edu	37	chr7	100352869	100352869	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgctgccctccaaatgccCgctacgaatcctgtgcttgt	9	15	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.chr7:100352869C>A	ENST00000348028.3	+	0	3310				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_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)			TCCAAATGCCCGCTACGAATC	0.572																																						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)							128	134	132					7																	100352869		1961	4140	6101			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352869C>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.100352869C>A			Somatic				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3293	+	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	12.33	1.904476	0.33628	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90444	-2.67;-2.67;-2.67	4.86	4.86	0.63082	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.179933	0.27245	N	0.020245	T	0.81545	0.4845	N	0.05158	-0.105	0.80722	D	1	B;B	0.25486	0.104;0.127	B;B	0.28916	0.058;0.096	T	0.79617	-0.1729	10	0.51188	T	0.08	.	14.2135	0.65779	0.0:1.0:0.0:0.0	.	1049;1049	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1049	ENSP00000445943:R1049S;ENSP00000445091:R1049S;ENSP00000444427:R1049S	ENSP00000423579:R1049S	R	+	1	0	ZAN	100190805	1.000000	0.71417	0.496000	0.27539	0.060000	0.15804	5.970000	0.70431	2.609000	0.88269	0.651000	0.88453	CGC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	319	8	319	---	---	---	---	A	100352869	C	A	100352869	1	1	9	0	1	0	0	0	0	0	0	0	17510	652	23	1		1	ZAN	7	100352869	RNA	SNP	C	TCGA-CH-5739-01A-11D-1576-08	201841	100352869	58785794	382	621										
MUC17	140453	broad.mit.edu	37	chr7	100675141	100675141	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgaaggcaccgacgtgccCatgtcaacaccaagtgaaga	10	13	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.chr7:100675141C>A	ENST00000306151.4	+	3	508	c.444C>A	c.(442-444)ccC>ccA	p.P148P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	148	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)					CCGACGTGCCCATGTCAACAC	0.458																																						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.(442-444)ccC>ccA		mucin 17, cell surface associated							197	176	183					7																	100675141		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675141C>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.444C>A	7.37:g.100675141C>A			Somatic					p.P148P	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	508	+	Lung NSC(181;0.136)|all_lung(186;0.182)		148			Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.444C>A	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	318	7	318	---	---	---	---	A	100675141	C	A	100675141	2	1	9	1	0	0	0	0	0	0	0	1	9974	581	21	1		1	MUC17	7	100675141	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	322272	100675141	58463522	383	622										
COG5	10466	broad.mit.edu	37	chr7	107188737	107188737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtacctatcaacagctccCtgtaaagccccaattctcgt	5	15	2	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.chr7:107188737C>A	ENST00000347053.3	-	4	476	c.426G>T	c.(424-426)caG>caT	p.Q142H	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000393603.2_Missense_Mutation_p.Q142H|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	142					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAACAGCTCCCTGTAAAGCCC	0.348																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(424-426)caG>caT		component of oligomeric golgi complex 5							159	170	167					7																	107188737		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107188737C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.426G>T	7.37:g.107188737C>A	ENSP00000334703:p.Gln142His		Somatic				COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000347053.3_Missense_Mutation_p.Q142H	p.Q142H	NM_001161520.1	NP_001154992.1	WXS	Illumina GAIIx	Phase_I	Q9UP83	COG5_HUMAN			4	697	-			142					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.426G>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.817949	0.50633	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.20881	2.04;2.04;2.04	5.41	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.72118	2.19	0.47994	D	0.999566	P;D	0.76494	0.906;0.999	P;D	0.69479	0.626;0.964	T	0.23440	-1.0188	10	0.15499	T	0.54	-7.7702	7.6307	0.28238	0.0:0.5931:0.0:0.4069	.	142;142	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	142	ENSP00000334703:Q142H;ENSP00000297135:Q142H;ENSP00000377228:Q142H	ENSP00000297135:Q142H	Q	-	3	2	COG5	106975973	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.388000	0.20735	0.361000	0.24292	0.655000	0.94253	CAG		0.348	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			8	459	8	459	---	---	---	---	A	107188737	C	A	107188737	3	1	9	1	0	0	0	0	1	0	0	0	3661	680	24	1	2236	1	COG5	7	107188737	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6513596	107188737	51949926	384	623										
CBLL1	79872	broad.mit.edu	37	chr7	107395935	107395935	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggagataagatgtgtccaGggtaagataagattatcatt	12	3	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.chr7:107395935G>T	ENST00000440859.3	+	5	906	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Splice_Site_p.G146C	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	147					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GATGTGTCCAGGGTAAGATAA	0.313																																						ENST00000440859.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(439-441)Ggc>Tgc		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							106	111	109					7																	107395935		2203	4297	6500	SO:0001630	splice_region_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395935G>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.440+1G>T	7.37:g.107395935G>T			Somatic				CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron	p.G147C	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	WXS	Illumina GAIIx	Phase_I	Q75N03	HAKAI_HUMAN			5	906	+								B7ZM03|Q8TAJ4|Q9H5S6	Splice_Site	SNP	ENST00000440859.3	37	c.439G>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903051	0.92035	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.33216	1.43;1.42;1.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.110191	0.64402	D	0.000009	T	0.55577	0.1929	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48822	-0.9001	10	0.44086	T	0.13	-2.0179	19.6375	0.95740	0.0:0.0:1.0:0.0	.	146;147	B7ZM03;Q75N03	.;HAKAI_HUMAN	C	147;26;146;97;93	ENSP00000401277:G147C;ENSP00000222597:G146C;ENSP00000410615:G97C	ENSP00000222597:G146C	G	+	1	0	CBLL1	107183171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.247000	0.95444	2.725000	0.93324	0.557000	0.71058	GGC		0.313	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814	Missense_Mutation	6	284	6	284	---	---	---	---	T	107395935	G	T	107395935	5	4	9	1	0	0	0	0	0	0	1	0	2703	1014	35	1	457	1	CBLL1	7	107395935	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	207198	107395935	51742728	385	624										
TMEM168	64418	broad.mit.edu	37	chr7	112423930	112423930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaatttggtatggaatccCcaaagagttaaaagaaaaat	7	4	0	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.chr7:112423930C>A	ENST00000312814.6	-	2	1511	c.951G>T	c.(949-951)tgG>tgT	p.W317C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	317						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						TATGGAATCCCCAAAGAGTTA	0.353																																						ENST00000312814.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(949-951)tgG>tgT		transmembrane protein 168							90	104	99					7																	112423930		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423930C>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.951G>T	7.37:g.112423930C>A	ENSP00000323068:p.Trp317Cys		Somatic				TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	p.W317C	NM_022484.4	NP_071929.3	WXS	Illumina GAIIx	Phase_I	Q9H0V1	TM168_HUMAN			2	1511	-								A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.951G>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483569	0.63962	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78140	-0.2320	9	0.87932	D	0	-14.0153	20.6593	0.99626	0.0:1.0:0.0:0.0	.	317	Q9H0V1	TM168_HUMAN	C	317	.	ENSP00000323068:W317C	W	-	3	0	TMEM168	112211166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.791000	0.85805	2.885000	0.99019	0.655000	0.94253	TGG		0.353	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		8	416	8	416	---	---	---	---	A	112423930	C	A	112423930	3	1	9	1	0	0	0	0	1	0	0	0	16080	624	22	1	1158	1	TMEM168	7	112423930	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5027995	112423930	46714733	386	625										
CAV2	858	broad.mit.edu	37	chr7	116146187	116146187	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggattgaatacttggaccCcaggtctggagattgggata	13	7	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.chr7:116146187C>A	ENST00000222693.4	+	0	893				CAV2_ENST00000343213.2_Missense_Mutation_p.P105T	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2						caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TACTTGGACCCCAGGTCTGGA	0.408																																						ENST00000343213.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(313-315)Cca>Aca		caveolin 2							136	117	124					7																	116146187		2203	4300	6503	SO:0001624	3_prime_UTR_variant	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116146187C>A	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.*12C>A	7.37:g.116146187C>A			Somatic				CAV2_ENST00000222693.4_3'UTR	p.P105T	NM_198212.2	NP_937855.1	WXS	Illumina GAIIx	Phase_I	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	355	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		0					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.313C>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559049	0.27827	.	.	ENSG00000105971	ENST00000343213	.	.	.	5.73	0.513	0.17000	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.09310	N	0.999998	B	0.23806	0.091	B	0.17433	0.018	T	0.21008	-1.0258	6	.	.	.	.	1.487	0.02449	0.2044:0.4125:0.1648:0.2183	.	105	P51636-3	.	T	105	.	.	P	+	1	0	CAV2	115933423	0.000000	0.05858	0.036000	0.18154	0.915000	0.54546	-0.273000	0.08548	0.423000	0.26033	0.655000	0.94253	CCA		0.408	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		5	186	5	186	---	---	---	---	A	116146187	C	A	116146187	1	1	9	0	1	0	0	0	0	0	0	0	2694	623	22	1		1	CAV2	7	116146187	3'UTR	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3722257	116146187	42992476	387	626										
MET	4233	broad.mit.edu	37	chr7	116435754	116435754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgatgacaagaggagccCcaccttatcctgacgtaaac	9	12	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.chr7:116435754C>A	ENST00000318493.6	+	20	4085	c.3898C>A	c.(3898-3900)Cca>Aca	p.P1300T	MET_ENST00000397752.3_Missense_Mutation_p.P1282T|MET_ENST00000539704.1_Missense_Mutation_p.P152T			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)			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)			AAGAGGAGCCCCACCTTATCC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										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.(3844-3846)Cca>Aca		met proto-oncogene							269	265	267					7																	116435754		1897	4111	6008	SO:0001583	missense	4233	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.chr7:116435754C>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.3898C>A	7.37:g.116435754C>A	ENSP00000317272:p.Pro1300Thr		Somatic	OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1473	MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000318493.6_Missense_Mutation_p.P1300T	p.P1282T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	WXS	Illumina GAIIx	Phase_I	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4044	+	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)	1282			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3844C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072252	0.20147	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.36340	1.26;1.26;1.26	5.44	5.44	0.79542	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	0.44850	0.1313	N	0.12637	0.245	0.80722	D	1	P;D	0.89917	0.701;1.0	P;D	0.91635	0.587;0.999	T	0.48581	-0.9023	10	0.42905	T	0.14	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	1300;1282	P08581-2;P08581	.;MET_HUMAN	T	1282;1300;152	ENSP00000380860:P1282T;ENSP00000317272:P1300T;ENSP00000445020:P152T	ENSP00000317272:P1300T	P	+	1	0	MET	116222990	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.835000	0.62781	2.717000	0.92951	0.655000	0.94253	CCA		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			7	392	7	392	---	---	---	---	A	116435754	C	A	116435754	3	1	9	1	0	0	0	0	1	0	0	0	9485	623	22	1	3972	1	MET	7	116435754	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	289567	116435754	42702909	388	627										
AASS	10157	broad.mit.edu	37	chr7	121731808	121731808	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attacattcatcaaaactccCactggactccagctaaattt	3	12	2	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.chr7:121731808C>A	ENST00000393376.1	-	17	2060	c.1965G>T	c.(1963-1965)gtG>gtT	p.V655V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	655	Saccharopine dehydrogenase.				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						TCAAAACTCCCACTGGACTCC	0.398																																						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.(1963-1965)gtG>gtT		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						78	76	77					7																	121731808		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.chr7:121731808C>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.1965G>T	7.37:g.121731808C>A			Somatic				AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V	p.V655V			WXS	Illumina GAIIx	Phase_I	Q9UDR5	AASS_HUMAN			17	2060	-			655			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1965G>T	CCDS5783.1																																																																																				0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	90	4	90	---	---	---	---	A	121731808	C	A	121731808	2	1	9	1	0	0	0	0	0	0	0	1	24	581	21	1		1	AASS	7	121731808	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5296054	121731808	37406855	389	628										
CNOT4	4850	broad.mit.edu	37	chr7	135047678	135047678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actctgtagtaaatctgtggGggttttgctggggggtctga	16	5	3	1	rs572004308		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.chr7:135047678G>T	ENST00000451834.1	-	12	2375	c.2092C>A	c.(2092-2094)Ccc>Acc	p.P698T	CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Missense_Mutation_p.P701T|CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					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)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATCTGTGGGGGTTTTGCTG	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(2101-2103)Ccc>Acc		CCR4-NOT transcription complex, subunit 4							201	210	207					7																	135047678		1852	4093	5945	SO:0001583	missense	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.chr7:135047678G>T	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	ENST00000451834.1:c.2092C>A	7.37:g.135047678G>T	ENSP00000388491:p.Pro698Thr		Somatic				CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T|CNOT4_ENST00000451834.1_Missense_Mutation_p.P698T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T	p.P701T	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	WXS	Illumina GAIIx	Phase_I	O95628	CNOT4_HUMAN			12	2431	-			370					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.2101C>A	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730579	0.30684	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000361528	T;T;T;T	0.44083	0.97;0.97;0.93;0.93	5.92	5.92	0.95590	.	.	.	.	.	T	0.35508	0.0934	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.13145	0.001;0.001;0.007;0.007	B;B;B;B	0.10450	0.001;0.001;0.005;0.005	T	0.06679	-1.0813	9	0.49607	T	0.09	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	698;701;630;627	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	T	701;698;630;627	ENSP00000445508:P701T;ENSP00000388491:P698T;ENSP00000406777:P630T;ENSP00000354673:P627T	ENSP00000354673:P627T	P	-	1	0	CNOT4	134698218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.809000	0.96659	0.557000	0.71058	CCC		0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		9	509	9	509	---	---	---	---	T	135047678	G	T	135047678	3	4	9	1	0	0	0	0	1	0	0	0	3621	1232	43	1	44	1	CNOT4	7	135047678	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13315870	135047678	24090985	390	629										
BRAF	673	broad.mit.edu	37	chr7	140434425	140434425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggaaacgcaccatatcccCctgcctggatgggtgttttt	10	12	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.chr7:140434425C>A	ENST00000288602.6	-	18	2333	c.2273G>T	c.(2272-2274)gGg>gTg	p.G758V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	758					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)	ACCATATCCCCCTGCCTGGAT	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.(2272-2274)gGg>gTg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						241	253	249					7																	140434425		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.chr7:140434425C>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.2273G>T	7.37:g.140434425C>A	ENSP00000288602:p.Gly758Val		Somatic					p.G758V	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			18	2333	-	Melanoma(164;0.00956)		758					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.2273G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.237327|5.237327	0.95240|0.95240	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	T|T	0.75050|0.74947	-0.9|-0.89	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76399|0.76399	0.3982|0.3982	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78173|0.78173	-0.2307|-0.2307	10|8	0.72032|0.87932	D|D	0.01|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	758|.	P15056|.	BRAF_HUMAN|.	V|W	758|366	ENSP00000288602:G758V|ENSP00000419060:G366W	ENSP00000288602:G758V|ENSP00000419060:G366W	G|G	-|-	2|1	0|0	BRAF|BRAF	140080894|140080894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	752	10	752	---	---	---	---	A	140434425	C	A	140434425	3	1	9	1	0	0	0	0	1	0	0	0	1496	623	22	1	31	1	BRAF	7	140434425	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5386747	140434425	18704238	391	630										
WEE2	494551	broad.mit.edu	37	chr7	141408679	141408679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaggcttcgagccaaaccCcagagaagggtgaagtgcag	16	9	0	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.chr7:141408679C>A	ENST00000397541.2	+	1	527	c.121C>A	c.(121-123)Cca>Aca	p.P41T	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	41					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)					GAGCCAAACCCCAGAGAAGGG	0.473																																						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.(121-123)Cca>Aca		WEE1 homolog 2 (S. pombe)							165	165	165					7																	141408679		1950	4138	6088	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.chr7:141408679C>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.121C>A	7.37:g.141408679C>A	ENSP00000380675:p.Pro41Thr		Somatic				WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	p.P41T	NM_001105558.1	NP_001099028.1	WXS	Illumina GAIIx	Phase_I	P0C1S8	WEE2_HUMAN			1	527	+	Melanoma(164;0.0171)		41						Missense_Mutation	SNP	ENST00000397541.2	37	c.121C>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	11.80	1.746240	0.30955	.	.	ENSG00000214102	ENST00000397541	T	0.20598	2.06	4.78	3.9	0.45041	.	1.241140	0.06144	U	0.673011	T	0.29914	0.0748	M	0.69823	2.125	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.30621	-0.9972	10	0.59425	D	0.04	-11.1304	12.3448	0.55114	0.0:0.9209:0.0:0.0791	.	41	P0C1S8	WEE2_HUMAN	T	41	ENSP00000380675:P41T	ENSP00000380675:P41T	P	+	1	0	WEE2	141055148	0.020000	0.18652	0.012000	0.15200	0.027000	0.11550	1.560000	0.36331	1.632000	0.50472	-0.141000	0.14075	CCA		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		6	277	6	277	---	---	---	---	A	141408679	C	A	141408679	3	1	9	1	0	0	0	0	1	0	0	0	17342	623	22	1	123	1	WEE2	7	141408679	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	974254	141408679	17729984	392	631										
MGAM	8972	broad.mit.edu	37	chr7	141758042	141758042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtaccttactggtctttgGggttccagctgtgtcgctat	12	9	1	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.chr7:141758042G>T	ENST00000549489.2	+	31	3828	c.3733G>T	c.(3733-3735)Ggg>Tgg	p.G1245W	MGAM_ENST00000475668.2_Missense_Mutation_p.G1245W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1245	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.G1245W(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGTCTTTGGGGTTCCAGCT	0.463																																						ENST00000475668.2																			3	Substitution - Missense(3)	p.G1245W(3)	lung(3)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3733-3735)Ggg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						256	248	250					7																	141758042		1943	4138	6081	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.chr7:141758042G>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.3733G>T	7.37:g.141758042G>T	ENSP00000447378:p.Gly1245Trp		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.G1245W	p.G1245W			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			31	3787	+	Melanoma(164;0.0272)		1245			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3733G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.864378	0.51482	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.98345	-4.88	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99465	0.9810	H	0.99697	4.71	0.52099	D	0.999947	D	0.89917	1.0	D	0.97110	1.0	D	0.97720	1.0196	9	0.87932	D	0	.	14.3362	0.66592	0.0:0.0:1.0:0.0	.	1245	O43451	MGA_HUMAN	W	1245;1245;1122	ENSP00000447378:G1245W	ENSP00000316431:G1122W	G	+	1	0	MGAM	141404511	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.518000	0.98022	1.623000	0.50342	0.173000	0.16961	GGG		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	597	9	597	---	---	---	---	T	141758042	G	T	141758042	3	4	9	1	0	0	0	0	1	0	0	0	9541	1232	43	1	3851	1	MGAM	7	141758042	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	349363	141758042	17380621	393	632										
TAS2R60	338398	broad.mit.edu	37	chr7	143140817	143140817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggccttcccatacaaccCtgtactgcagtttctagctt	7	13	1	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.chr7:143140817C>A	ENST00000332690.1	+	1	272	c.272C>A	c.(271-273)cCt>cAt	p.P91H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	91					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P91L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATACAACCCTGTACTGCAG	0.478																																						ENST00000332690.1																			1	Substitution - Missense(1)	p.P91L(1)	skin(1)	breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(271-273)cCt>cAt		taste receptor, type 2, member 60							150	134	139					7																	143140817		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140817C>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.272C>A	7.37:g.143140817C>A	ENSP00000327724:p.Pro91His		Somatic				EPHA1-AS1_ENST00000429289.1_RNA	p.P91H	NM_177437.1	NP_803186.1	WXS	Illumina GAIIx	Phase_I	P59551	T2R60_HUMAN			1	272	+	Melanoma(164;0.172)		91					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.272C>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	8.646	0.897106	0.17686	.	.	ENSG00000185899	ENST00000332690	T	0.00717	5.79	5.48	2.64	0.31445	.	0.813503	0.10761	U	0.637189	T	0.02342	0.0072	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.45614	-0.9249	10	0.13470	T	0.59	.	4.4009	0.11386	0.1793:0.6378:0.0:0.1829	.	91	P59551	T2R60_HUMAN	H	91	ENSP00000327724:P91H	ENSP00000327724:P91H	P	+	2	0	TAS2R60	142850939	0.000000	0.05858	0.006000	0.13384	0.031000	0.12232	-0.729000	0.04920	0.659000	0.30945	0.655000	0.94253	CCT		0.478	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			7	296	7	296	---	---	---	---	A	143140817	C	A	143140817	3	1	9	1	0	0	0	0	1	0	0	0	15582	681	24	1	274	1	TAS2R60	7	143140817	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1382775	143140817	15997846	394	633										
TAS2R60	338398	broad.mit.edu	37	chr7	143141423	143141423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgtgtgcagcagttcaccCcatcattctgctcttcagca	7	14	6	0	rs144018396		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.chr7:143141423C>A	ENST00000332690.1	+	1	878	c.878C>A	c.(877-879)cCc>cAc	p.P293H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	293					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAGTTCACCCCATCATTCTG	0.493																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(877-879)cCc>cAc		taste receptor, type 2, member 60							136	133	134					7																	143141423		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141423C>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.878C>A	7.37:g.143141423C>A	ENSP00000327724:p.Pro293His		Somatic				EPHA1-AS1_ENST00000429289.1_RNA	p.P293H	NM_177437.1	NP_803186.1	WXS	Illumina GAIIx	Phase_I	P59551	T2R60_HUMAN			1	878	+	Melanoma(164;0.172)		293					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.878C>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428337	0.62844	.	.	ENSG00000185899	ENST00000332690	T	0.64260	-0.09	5.82	4.94	0.65067	.	0.252787	0.32106	U	0.006566	T	0.75117	0.3806	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67787	-0.5580	10	0.87932	D	0	.	10.6176	0.45460	0.0:0.912:0.0:0.088	.	293	P59551	T2R60_HUMAN	H	293	ENSP00000327724:P293H	ENSP00000327724:P293H	P	+	2	0	TAS2R60	142851545	0.005000	0.15991	0.004000	0.12327	0.317000	0.28152	1.972000	0.40540	1.450000	0.47717	0.591000	0.81541	CCC		0.493	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			7	326	7	326	---	---	---	---	A	143141423	C	A	143141423	3	1	9	1	0	0	0	0	1	0	0	0	15582	623	22	1	880	1	TAS2R60	7	143141423	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	606	143141423	15997240	395	634										
OR2A14	135941	broad.mit.edu	37	chr7	143827062	143827062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcaatccaatgctgaaccCcctgatatatagcctaagga	6	11	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.chr7:143827062C>A	ENST00000408899.2	+	1	912	c.857C>A	c.(856-858)cCc>cAc	p.P286H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286						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)					ATGCTGAACCCCCTGATATAT	0.542																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(856-858)cCc>cAc		olfactory receptor, family 2, subfamily A, member 14							146	149	148					7																	143827062		1907	4126	6033	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143827062C>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.857C>A	7.37:g.143827062C>A	ENSP00000386137:p.Pro286His		Somatic					p.P286H	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	Q96R47	O2A14_HUMAN			1	912	+	Melanoma(164;0.0783)		286					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.857C>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647575	0.47258	.	.	ENSG00000221938	ENST00000408899	T	0.64260	-0.09	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32273	U	0.006329	D	0.84329	0.5448	H	0.95365	3.66	0.50467	D	0.999871	D	0.89917	1.0	D	0.87578	0.998	D	0.89083	0.3477	10	0.87932	D	0	-26.0903	14.3811	0.66911	0.0:1.0:0.0:0.0	.	286	Q96R47	O2A14_HUMAN	H	286	ENSP00000386137:P286H	ENSP00000386137:P286H	P	+	2	0	OR2A14	143457995	1.000000	0.71417	0.990000	0.47175	0.051000	0.14879	5.679000	0.68160	2.303000	0.77524	0.561000	0.74099	CCC		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			8	362	8	362	---	---	---	---	A	143827062	C	A	143827062	3	1	9	1	0	0	0	0	1	0	0	0	10976	623	22	1	859	1	OR2A14	7	143827062	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	685639	143827062	15311601	396	635										
ZNF425	155054	broad.mit.edu	37	chr7	148800929	148800929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagtggaccttcaagctgccCctgatgcagtagctcttgtc	10	12	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.chr7:148800929C>A	ENST00000378061.2	-	4	2166	c.2034G>T	c.(2032-2034)agG>agT	p.R678S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAAGCTGCCCCTGATGCAGT	0.552																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(2032-2034)agG>agT		zinc finger protein 425							106	101	102					7																	148800929		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800929C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2034G>T	7.37:g.148800929C>A	ENSP00000367300:p.Arg678Ser		Somatic					p.R678S	NM_001001661.2	NP_001001661.1	WXS	Illumina GAIIx	Phase_I	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2166	-	Melanoma(164;0.15)		678					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2034G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467154	0.43839	.	.	ENSG00000204947	ENST00000378061	T	0.14391	2.51	2.87	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.11364	0.135	0.09310	N	1	B	0.21606	0.058	B	0.12837	0.008	T	0.42032	-0.9475	9	0.05959	T	0.93	.	6.7726	0.23602	0.0:0.7383:0.0:0.2617	.	678	Q6IV72	ZN425_HUMAN	S	678	ENSP00000367300:R678S	ENSP00000367300:R678S	R	-	3	2	ZNF425	148431862	0.000000	0.05858	0.001000	0.08648	0.921000	0.55340	-1.586000	0.02110	0.530000	0.28619	0.655000	0.94253	AGG		0.552	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		6	239	6	239	---	---	---	---	A	148800929	C	A	148800929	3	1	9	1	0	0	0	0	1	0	0	0	17896	622	22	1	228	1	ZNF425	7	148800929	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4973867	148800929	10337734	397	636										
NOS3	4846	broad.mit.edu	37	chr7	150696367	150696367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattgggggcctggagttccCcgcagcccccttcagtggct	13	14	1	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.chr7:150696367C>A	ENST00000484524.1	+	8	1046	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	NOS3_ENST00000297494.3_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	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)		CTGGAGTTCCCCGCAGCCCCC	0.632																																						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.(1045-1047)cCc>cAc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						84	91	88					7																	150696367		2201	4294	6495	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.chr7:150696367C>A		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.1046C>A	7.37:g.150696367C>A	ENSP00000420215:p.Pro349His		Somatic				NOS3_ENST00000484524.1_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	p.P349H	NM_000603.4	NP_000594.2	WXS	Illumina GAIIx	Phase_I	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1403	+	all_neural(206;0.219)		349			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1046C>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	25.6	4.651037	0.88056	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.101981	0.41823	D	0.000813	T	0.58075	0.2097	M	0.88241	2.94	0.53688	D	0.999974	P;P;D;D;D	0.71674	0.814;0.814;0.982;0.998;0.987	P;P;D;D;P	0.74348	0.778;0.841;0.948;0.983;0.886	T	0.66630	-0.5875	10	0.87932	D	0	-9.8335	16.5106	0.84283	0.0:1.0:0.0:0.0	.	349;349;349;143;349	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	H	349;143;349;349	ENSP00000297494:P349H;ENSP00000417143:P143H;ENSP00000420215:P349H;ENSP00000420551:P349H	ENSP00000297494:P349H	P	+	2	0	NOS3	150327300	0.995000	0.38212	0.902000	0.35471	0.984000	0.73092	6.026000	0.70873	2.479000	0.83701	0.639000	0.83563	CCC		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		5	164	5	164	---	---	---	---	A	150696367	C	A	150696367	3	1	9	1	0	0	0	0	1	0	0	0	10544	623	22	1	1076	1	NOS3	7	150696367	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1895438	150696367	8442296	398	637										
NCAPG2	54892	broad.mit.edu	37	chr7	158451099	158451099	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagggatcttgcagcgatcaTcctaaaagcgaaaaaagaaa	9	7	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.chr7:158451099T>A	ENST00000409423.1	-	18	2163	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000409339.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V|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.(1990-1992)gAt>gTt		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			Somatic				NCAPG2_ENST00000409423.1_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V	p.D664V	NM_001281933.1	NP_001268862.1	WXS	Illumina GAIIx	Phase_I	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.1991A>T	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	14	31	---	---	---	---	A	158451099	T	A	158451099	5	1	9	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	7754732	158451099	687564	399	638										
CSMD1	64478	broad.mit.edu	37	chr8	2830703	2830703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgtgcgttcaggggagccCctcagctggtgccccatttc	12	15	2	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.chr8:2830703C>A	ENST00000520002.1	-	58	9417	c.8862G>T	c.(8860-8862)agG>agT	p.R2954S	CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2954	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)		CAGGGGAGCCCCTCAGCTGGT	0.567																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8860-8862)agG>agT		CUB and Sushi multiple domains 1							78	83	81					8																	2830703		1993	4149	6142	SO:0001583	missense	64478					integral to membrane		g.chr8:2830703C>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.8862G>T	8.37:g.2830703C>A	ENSP00000430733:p.Arg2954Ser		Somatic				CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S	p.R2954S			WXS	Illumina GAIIx	Phase_I	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	9417	-		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)	2954			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8862G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.075|4.075	0.011778|0.011778	0.07912|0.07912	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01	5.1|5.1	1.77|1.77	0.24775|0.24775	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.067812	.|0.64402	.|D	.|0.000017	T|T	0.55194|0.55194	0.1905|0.1905	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.53619	.|0.961;0.578;0.657	.|P;B;B	.|0.57679	.|0.825;0.388;0.409	T|T	0.50039|0.50039	-0.8874|-0.8874	5|10	.|0.12103	.|T	.|0.63	.|.	6.9788|6.9788	0.24692|0.24692	0.0:0.3723:0.4967:0.131|0.0:0.3723:0.4967:0.131	.|.	.|2954;2954;2895	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	W|S	2371|2896;2954;2815;2953;2895	.|ENSP00000383047:R2896S;ENSP00000430733:R2954S;ENSP00000441462:R2953S;ENSP00000446243:R2895S	.|ENSP00000320445:R2815S	G|R	-|-	1|3	0|2	CSMD1|CSMD1	2818110|2818110	0.518000|0.518000	0.26234|0.26234	0.999000|0.999000	0.59377|0.59377	0.123000|0.123000	0.20343|0.20343	-0.211000|-0.211000	0.09332|0.09332	0.515000|0.515000	0.28320|0.28320	-0.165000|-0.165000	0.13383|0.13383	GGG|AGG		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	112	5	112	---	---	---	---	A	2830703	C	A	2830703	3	1	9	1	0	0	0	0	1	0	0	0	3944	622	22	1	1891	1	CSMD1	8	2830703	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		2830703	143533319	400	639										
SGK223	157285	broad.mit.edu	37	chr8	8185557	8185557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggatgaggcggagggggccCctttgcactggaggccaggg	20	9	0	1	rs200624656		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.chr8:8185557C>A	ENST00000520004.1	-	5	2999	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V	SGK223_ENST00000330777.4_Missense_Mutation_p.G912V			Q86YV5	SG223_HUMAN		914							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGAGGGGGCCCCTTTGCACTG	0.662																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2734-2736)gGg>gTg									34	40	38					8																	8185557		1931	4118	6049	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185557C>A																												ENST00000520004.1:c.2735G>T	8.37:g.8185557C>A	ENSP00000428054:p.Gly912Val		Somatic				SGK223_ENST00000330777.4_Missense_Mutation_p.G912V	p.G912V			WXS	Illumina GAIIx	Phase_I	Q86YV5	SG223_HUMAN			5	2999	-			912					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2735G>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	5.870	0.344663	0.11126	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56444	0.46;0.46	4.56	2.67	0.31697	.	0.295385	0.27236	N	0.020295	T	0.35480	0.0933	L	0.40543	1.245	0.32627	N	0.522545	P	0.35077	0.483	B	0.30495	0.116	T	0.43621	-0.9380	10	0.48119	T	0.1	.	3.9154	0.09220	0.1488:0.5407:0.2129:0.0976	.	912	Q86YV5	SG223_HUMAN	V	912	ENSP00000330930:G912V;ENSP00000428054:G912V	ENSP00000330930:G912V	G	-	2	0	AC068353.1	8222967	0.974000	0.33945	0.105000	0.21289	0.154000	0.21943	2.351000	0.44071	0.583000	0.29574	0.563000	0.77884	GGG		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			4	51	4	51	---	---	---	---	A	8185557	C	A	8185557	3	1	9	1	0	0	0	0	1	0	0	0	14210	623	22	1	1481	1	SGK223	8	8185557	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5354854	8185557	138178465	401	640										
ATP6V1B2	526	broad.mit.edu	37	chr8	20072428	20072428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacgcgctgggcgagtggaaGggagaaacggctcgattact	16	8	0	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.chr8:20072428G>T	ENST00000276390.2	+	10	1067	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	343					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)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	GCGAGTGGAAGGGAGAAACGG	0.438																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(1027-1029)Ggg>Tgg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							160	153	155					8																	20072428		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|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.chr8:20072428G>T	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"ATPases / V-type"	854	protein-coding gene	gene with protein product		606939	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1027G>T	8.37:g.20072428G>T	ENSP00000276390:p.Gly343Trp		Somatic					p.G343W	NM_001693.3	NP_001684.2	WXS	Illumina GAIIx	Phase_I	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	10	1067	+			343					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.1027G>T	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893311	0.91889	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.82984	-1.67	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047549	0.85682	D	0.000000	D	0.94195	0.8137	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95736	0.8779	10	0.87932	D	0	-38.5409	17.8874	0.88861	0.0:0.0:1.0:0.0	.	343	P21281	VATB2_HUMAN	W	343;217	ENSP00000276390:G343W	ENSP00000276390:G343W	G	+	1	0	ATP6V1B2	20116708	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	9.841000	0.99482	2.627000	0.88993	0.655000	0.94253	GGG		0.438	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		5	110	5	110	---	---	---	---	T	20072428	G	T	20072428	3	4	9	1	0	0	0	0	1	0	0	0	1179	1000	35	1	1065	1	ATP6V1B2	8	20072428	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11886871	20072428	126291594	402	641										
CDCA2	157313	broad.mit.edu	37	chr8	25327468	25327468	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttagttgaagagtctcttccCctttcagagctcacagagac	8	11	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.chr8:25327468C>A	ENST00000330560.3	+	7	1269	c.792C>A	c.(790-792)ccC>ccA	p.P264P	CDCA2_ENST00000380665.3_Silent_p.P249P	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	264					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)		AGTCTCTTCCCCTTTCAGAGC	0.348																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(790-792)ccC>ccA		cell division cycle associated 2							89	90	90					8																	25327468		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25327468C>A	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.792C>A	8.37:g.25327468C>A			Somatic				CDCA2_ENST00000380665.3_Silent_p.P249P	p.P264P	NM_152562.2	NP_689775.2	WXS	Illumina GAIIx	Phase_I	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)	7	1269	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	264					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.792C>A	CCDS6049.1																																																																																				0.348	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		5	185	5	185	---	---	---	---	A	25327468	C	A	25327468	2	1	9	1	0	0	0	0	0	0	0	1	3086	610	22	1		1	CDCA2	8	25327468	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5255040	25327468	121036554	403	642										
RNF122	79845	broad.mit.edu	37	chr8	33408563	33408563	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actttcctggcacacttaccCcatataattgtaacttcttg	4	12	1	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.chr8:33408563C>A	ENST00000256257.1	-	4	670	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	90						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CACACTTACCCCATATAATTG	0.512																																						ENST00000256257.1																			0				endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(268-270)gGg>gTg		ring finger protein 122							242	249	246					8																	33408563		2203	4300	6503	SO:0001630	splice_region_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33408563C>A	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.270+1G>T	8.37:g.33408563C>A			Somatic					p.G90V	NM_024787.2	NP_079063.2	WXS	Illumina GAIIx	Phase_I	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	4	670	-			90					Q52LK3	Splice_Site	SNP	ENST00000256257.1	37	c.269G>T	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864690	0.71949	.	.	ENSG00000133874	ENST00000256257	T	0.33654	1.4	5.75	5.75	0.90469	Zinc finger, RING-H2-type (1);	0.157472	0.56097	D	0.000026	T	0.36663	0.0975	M	0.65498	2.005	0.80722	D	1	P	0.40834	0.73	B	0.35550	0.205	T	0.17440	-1.0369	10	0.19590	T	0.45	-18.7311	17.7307	0.88376	0.0:1.0:0.0:0.0	.	90	Q9H9V4	RN122_HUMAN	V	90	ENSP00000256257:G90V	ENSP00000256257:G90V	G	-	2	0	RNF122	33528105	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.355000	0.73041	2.714000	0.92807	0.563000	0.77884	GGG		0.512	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787	Missense_Mutation	7	348	7	348	---	---	---	---	A	33408563	C	A	33408563	5	1	9	1	0	0	0	0	0	0	1	0	13432	637	22	1	210	1	RNF122	8	33408563	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8081095	33408563	112955459	404	643										
GOT1L1	137362	broad.mit.edu	37	chr8	37793285	37793285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgtgcacccgtgttggggGggtttagccacagggcctgg	17	11	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.chr8:37793285G>T	ENST00000307599.4	-	7	965	c.866C>A	c.(865-867)cCc>cAc	p.P289H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	289					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)			CGTGTTGGGGGGGTTTAGCCA	0.602																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(865-867)cCc>cAc		glutamic-oxaloacetic transaminase 1-like 1							53	58	56					8																	37793285		2042	4206	6248	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793285G>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.866C>A	8.37:g.37793285G>T	ENSP00000303077:p.Pro289His		Somatic				GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	p.P289H	NM_152413.2	NP_689626.2	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	965	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	289					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.866C>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581220	0.46006	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97870	-4.58;-4.58	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.076058	0.52532	D	0.000068	D	0.98871	0.9618	M	0.90650	3.135	0.50039	D	0.999841	D	0.89917	1.0	D	0.83275	0.996	D	0.99694	1.1002	10	0.87932	D	0	-7.4801	15.5201	0.75859	0.0:0.0:1.0:0.0	.	289	Q8NHS2	AATC2_HUMAN	H	289;30	ENSP00000303077:P289H;ENSP00000429558:P30H	ENSP00000303077:P289H	P	-	2	0	GOT1L1	37912443	1.000000	0.71417	0.306000	0.25113	0.004000	0.04260	7.128000	0.77217	2.412000	0.81896	0.650000	0.86243	CCC		0.602	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		4	36	4	36	---	---	---	---	T	37793285	G	T	37793285	3	4	9	1	0	0	0	0	1	0	0	0	6580	1232	43	1	411	1	GOT1L1	8	37793285	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4384722	37793285	108570737	405	644										
DDHD2	23259	broad.mit.edu	37	chr8	38109666	38109666	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggtgtctgtgaaataccCccggctcatctataaaccag	9	11	3	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.chr8:38109666C>A	ENST00000397166.2	+	13	2003	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000529845.1_5'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	493					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTGAAATACCCCCGGCTCATC	0.383																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1477-1479)cCc>cAc		DDHD domain containing 2							151	162	158					8																	38109666		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38109666C>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1478C>A	8.37:g.38109666C>A	ENSP00000380352:p.Pro493His		Somatic				DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000529845.1_5'UTR	p.P493H	NM_015214.2	NP_056029.2	WXS	Illumina GAIIx	Phase_I	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		13	2003	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	493					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1478C>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156790	0.38119	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385	T;T	0.34667	1.35;1.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.53249	1.67	0.80722	D	1	P	0.45672	0.864	B	0.40165	0.321	T	0.37009	-0.9724	10	0.56958	D	0.05	-10.9092	18.0097	0.89219	0.0:1.0:0.0:0.0	.	493	O94830	DDHD2_HUMAN	H	493;493;112	ENSP00000380352:P493H;ENSP00000429932:P493H	ENSP00000380352:P493H	P	+	2	0	DDHD2	38228823	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.870000	0.69620	2.541000	0.85698	0.484000	0.47621	CCC		0.383	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		8	320	8	320	---	---	---	---	A	38109666	C	A	38109666	3	1	9	1	0	0	0	0	1	0	0	0	4327	623	22	1	1586	1	DDHD2	8	38109666	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	316381	38109666	108254356	406	645										
WHSC1L1	54904	broad.mit.edu	37	chr8	38205040	38205040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcctctggttctaatttgGggattttgtgtgacttgcgc	12	7	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.chr8:38205040G>T	ENST00000317025.8	-	2	1167	c.650C>A	c.(649-651)cCc>cAc	p.P217H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	217					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)			TTCTAATTTGGGGATTTTGTG	0.343			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.(649-651)cCc>cAc		Wolf-Hirschhorn syndrome candidate 1-like 1							174	164	168					8																	38205040		2203	4300	6503	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.chr8:38205040G>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.650C>A	8.37:g.38205040G>T	ENSP00000313983:p.Pro217His		Somatic				WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	p.P217H	NM_023034.1	NP_075447.1	WXS	Illumina GAIIx	Phase_I	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)		2	1167	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	217					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.650C>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060753	0.55432	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95171	-3.62;-3.63;-3.63;-0.15;0.91	5.45	5.45	0.79879	.	0.000000	0.48286	U	0.000194	D	0.93913	0.8052	L	0.51422	1.61	0.35035	D	0.759121	B;B;P;B	0.52692	0.412;0.415;0.955;0.343	B;B;P;B	0.49528	0.125;0.247;0.614;0.166	D	0.96687	0.9508	10	0.66056	D	0.02	.	14.1618	0.65452	0.0:0.0:0.8501:0.1499	.	217;217;217;217	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	H	217;217;154;217;217;217	ENSP00000393284:P217H;ENSP00000313983:P217H;ENSP00000434730:P217H;ENSP00000313410:P217H;ENSP00000435422:P217H	ENSP00000313410:P217H	P	-	2	0	WHSC1L1	38324197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.507000	0.60434	2.547000	0.85894	0.563000	0.77884	CCC		0.343	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		6	322	6	322	---	---	---	---	T	38205040	G	T	38205040	3	4	9	1	0	0	0	0	1	0	0	0	17360	1232	43	1	3842	1	WHSC1L1	8	38205040	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	95374	38205040	108158982	407	646										
RP1	6101	broad.mit.edu	37	chr8	55541471	55541471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtctttatgattctgaaGggcagtcatttggctcttct	9	8	5	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.chr8:55541471G>T	ENST00000220676.1	+	4	5177	c.5029G>T	c.(5029-5031)Ggg>Tgg	p.G1677W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1677					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)			TGATTCTGAAGGGCAGTCATT	0.413																																					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.(5029-5031)Ggg>Tgg		retinitis pigmentosa 1 (autosomal dominant)							154	157	156					8																	55541471		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.chr8:55541471G>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.5029G>T	8.37:g.55541471G>T	ENSP00000220676:p.Gly1677Trp		Somatic					p.G1677W	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5177	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1677						Missense_Mutation	SNP	ENST00000220676.1	37	c.5029G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461430	0.43736	.	.	ENSG00000104237	ENST00000220676	T	0.26067	1.76	5.86	1.94	0.25998	.	0.546138	0.16539	N	0.210052	T	0.35740	0.0942	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.61328	0.887	T	0.09818	-1.0657	10	0.87932	D	0	.	6.13	0.20199	0.2101:0.0:0.6572:0.1328	.	1677	P56715	RP1_HUMAN	W	1677	ENSP00000220676:G1677W	ENSP00000220676:G1677W	G	+	1	0	RP1	55704024	0.279000	0.24239	0.864000	0.33941	0.968000	0.65278	0.606000	0.24194	0.345000	0.23873	0.655000	0.94253	GGG		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	581	8	581	---	---	---	---	T	55541471	G	T	55541471	3	4	9	1	0	0	0	0	1	0	0	0	13532	1000	35	1	5039	1	RP1	8	55541471	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17336431	55541471	90822551	408	647										
TGS1	96764	broad.mit.edu	37	chr8	56723475	56723475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgatcctgttaagattgccCttgctcgcaataatgcagaa	8	10	0	2	rs565030479	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.chr8:56723475C>A	ENST00000260129.5	+	11	2656	c.2179C>A	c.(2179-2181)Ctt>Att	p.L727I		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	727	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TAAGATTGCCCTTGCTCGCAA	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2179-2181)Ctt>Att		trimethylguanosine synthase 1							209	211	211					8																	56723475		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56723475C>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2179C>A	8.37:g.56723475C>A	ENSP00000260129:p.Leu727Ile		Somatic					p.L727I	NM_024831.6	NP_079107.6	WXS	Illumina GAIIx	Phase_I	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		11	2656	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	727			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2179C>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156893	0.78114	.	.	ENSG00000137574	ENST00000260129	T	0.46063	0.88	5.57	5.57	0.84162	.	0.069650	0.64402	D	0.000014	T	0.51924	0.1703	L	0.42632	1.34	0.58432	D	0.999999	B	0.29988	0.264	P	0.49387	0.609	T	0.52388	-0.8582	10	0.46703	T	0.11	-16.1038	12.8353	0.57770	0.0:0.9256:0.0:0.0744	.	727	Q96RS0	TGS1_HUMAN	I	727	ENSP00000260129:L727I	ENSP00000260129:L727I	L	+	1	0	TGS1	56886029	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	2.557000	0.45871	2.617000	0.88574	0.655000	0.94253	CTT		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		8	580	8	580	---	---	---	---	A	56723475	C	A	56723475	3	1	9	1	0	0	0	0	1	0	0	0	15834	681	24	1	2221	1	TGS1	8	56723475	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1182004	56723475	89640547	409	648										
LYN	4067	broad.mit.edu	37	chr8	56863046	56863046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatggtggaaagcaaagtccCttttaacaaaaaaagaaggc	9	6	0	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.chr8:56863046C>A	ENST00000519728.1	+	5	609	c.313C>A	c.(313-315)Ctt>Att	p.L105I	LYN_ENST00000520220.2_Missense_Mutation_p.L84I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	105	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)	AGCAAAGTCCCTTTTAACAAA	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.(250-252)Ctt>Att		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							210	210	210					8																	56863046		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.chr8:56863046C>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.313C>A	8.37:g.56863046C>A	ENSP00000428924:p.Leu105Ile		Somatic				LYN_ENST00000519728.1_Missense_Mutation_p.L105I	p.L84I	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	524	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	105			SH3.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.250C>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302154	0.40694	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.49432	0.78;0.78;0.78	5.6	4.71	0.59529	Src homology-3 domain (4);	0.060089	0.64402	N	0.000003	T	0.51873	0.1700	L	0.46947	1.48	0.52099	D	0.999944	P;B	0.34639	0.461;0.001	P;B	0.48840	0.592;0.067	T	0.51309	-0.8722	10	0.41790	T	0.15	.	9.3249	0.37986	0.1456:0.7825:0.0:0.0719	.	175;105	Q6NUK7;P07948	.;LYN_HUMAN	I	105;84;105	ENSP00000428924:L105I;ENSP00000428424:L84I;ENSP00000428313:L105I	ENSP00000428924:L105I	L	+	1	0	LYN	57025600	0.726000	0.28059	0.985000	0.45067	0.944000	0.59088	1.149000	0.31626	1.354000	0.45846	0.655000	0.94253	CTT		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		8	621	8	621	---	---	---	---	A	56863046	C	A	56863046	3	1	9	1	0	0	0	0	1	0	0	0	9107	681	24	1	327	1	LYN	8	56863046	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	139571	56863046	89500976	410	649										
CHD7	55636	broad.mit.edu	37	chr8	61654708	61654708	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccacttgtcccacgtgccCcagcagagtcccagcatggc	11	17	0	1	rs367559404		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.chr8:61654708C>A	ENST00000423902.2	+	2	1196	c.717C>A	c.(715-717)ccC>ccA	p.P239P	CHD7_ENST00000525508.1_Silent_p.P239P|CHD7_ENST00000524602.1_Silent_p.P239P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	239					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)			CCCACGTGCCCCAGCAGAGTC	0.577																																						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.(715-717)ccC>ccA		chromodomain helicase DNA binding protein 7							95	99	97					8																	61654708		2110	4231	6341	SO:0001819	synonymous_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.chr8:61654708C>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.717C>A	8.37:g.61654708C>A			Somatic				CHD7_ENST00000524602.1_Silent_p.P239P|CHD7_ENST00000525508.1_Silent_p.P239P	p.P239P	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1196	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	239					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.717C>A	CCDS47865.1																																																																																				0.577	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	231	6	231	---	---	---	---	A	61654708	C	A	61654708	2	1	9	1	0	0	0	0	0	0	0	1	3330	610	22	1		1	CHD7	8	61654708	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4791662	61654708	84709314	411	650										
CHD7	55636	broad.mit.edu	37	chr8	61773508	61773508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgaagaagatatagagaccCcaccaacaagaaacattcct	6	10	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.chr8:61773508C>A	ENST00000423902.2	+	35	8133	c.7654C>A	c.(7654-7656)Cca>Aca	p.P2552T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2552					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)			TATAGAGACCCCACCAACAAG	0.488																																						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.(7654-7656)Cca>Aca		chromodomain helicase DNA binding protein 7							121	119	120					8																	61773508		1949	4139	6088	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.chr8:61773508C>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.7654C>A	8.37:g.61773508C>A	ENSP00000392028:p.Pro2552Thr		Somatic				CHD7_ENST00000524602.1_Intron	p.P2552T	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		35	8133	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2552					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7654C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196100	0.38806	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.81415	-1.49	5.63	5.63	0.86233	.	0.154798	0.46145	D	0.000312	T	0.73265	0.3565	N	0.22421	0.69	0.35518	D	0.80122	B	0.02656	0.0	B	0.04013	0.001	T	0.73279	-0.4033	10	0.72032	D	0.01	-10.6671	19.6876	0.95986	0.0:1.0:0.0:0.0	.	2552	Q9P2D1	CHD7_HUMAN	T	2552	ENSP00000392028:P2552T	ENSP00000307304:P2552T	P	+	1	0	CHD7	61936062	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	2.659000	0.90383	0.655000	0.94253	CCA		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	192	6	192	---	---	---	---	A	61773508	C	A	61773508	3	1	9	1	0	0	0	0	1	0	0	0	3330	623	22	1	7788	1	CHD7	8	61773508	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	118800	61773508	84590514	412	651										
CSPP1	79848	broad.mit.edu	37	chr8	68028335	68028335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagtggactcagcagcgccCttggtgaaatggtgtctccc	13	12	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.chr8:68028335C>A	ENST00000262210.5	+	11	1490	c.1459C>A	c.(1459-1461)Ctt>Att	p.L487I	CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	522	Pro-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)			CAGCAGCGCCCTTGGTGAAAT	0.443																																						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.(1459-1461)Ctt>Att		centrosome and spindle pole associated protein 1							125	123	123					8																	68028335		1895	4120	6015	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68028335C>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.1459C>A	8.37:g.68028335C>A	ENSP00000262210:p.Leu487Ile		Somatic				CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	p.L487I	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	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)		11	1490	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	522			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1459C>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819768	0.16678	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.47528	1.1;0.84;0.84	5.08	3.29	0.37713	.	0.216900	0.31897	N	0.006900	T	0.48978	0.1530	L	0.56769	1.78	0.26868	N	0.967818	B;D;B;B	0.55385	0.357;0.971;0.421;0.421	B;P;B;B	0.48270	0.247;0.572;0.169;0.254	T	0.43734	-0.9373	10	0.49607	T	0.09	-11.2118	10.8523	0.46777	0.0:0.7743:0.0:0.2257	.	193;487;522;522	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	487;522;193;193	ENSP00000262210:L487I;ENSP00000415782:L193I;ENSP00000430092:L193I	ENSP00000262210:L487I	L	+	1	0	CSPP1	68190889	0.970000	0.33590	0.985000	0.45067	0.045000	0.14185	1.480000	0.35464	0.345000	0.23873	-1.814000	0.00607	CTT		0.443	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	254	8	254	---	---	---	---	A	68028335	C	A	68028335	3	1	9	1	0	0	0	0	1	0	0	0	3962	681	24	1	1614	1	CSPP1	8	68028335	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6254827	68028335	78335687	413	652										
ARFGEF1	10565	broad.mit.edu	37	chr8	68204210	68204210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtatggaggtcaaggtccCcttcgtgttcttgggatata	12	7	2	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.chr8:68204210C>A	ENST00000262215.3	-	6	1177	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	263					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)			GTCAAGGTCCCCTTCGTGTTC	0.423																																						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.(787-789)gGg>gTg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							230	214	220					8																	68204210		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68204210C>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.788G>T	8.37:g.68204210C>A	ENSP00000262215:p.Gly263Val		Somatic					p.G263V	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	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)		6	1177	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	263					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.788G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123183	0.37436	.	.	ENSG00000066777	ENST00000262215	T	0.20598	2.06	5.02	5.02	0.67125	Armadillo-type fold (1);	0.271361	0.35677	N	0.003055	T	0.23133	0.0559	L	0.48642	1.525	0.80722	D	1	B	0.23735	0.09	B	0.22880	0.042	T	0.02581	-1.1138	10	0.38643	T	0.18	.	18.3625	0.90379	0.0:1.0:0.0:0.0	.	263	Q9Y6D6	BIG1_HUMAN	V	263	ENSP00000262215:G263V	ENSP00000262215:G263V	G	-	2	0	ARFGEF1	68366764	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	2.770000	0.47662	2.327000	0.79052	0.460000	0.39030	GGG		0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		8	568	8	568	---	---	---	---	A	68204210	C	A	68204210	3	1	9	1	0	0	0	0	1	0	0	0	852	623	22	1	4897	1	ARFGEF1	8	68204210	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	175875	68204210	78159812	414	653										
C8orf34	116328	broad.mit.edu	37	chr8	69434117	69434117	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagaaaatgatgctgatccCctagctgctgaaatgctaca	9	9	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.chr8:69434117C>A	ENST00000539993.1	+	6	1140	c.591C>A	c.(589-591)ccC>ccA	p.P197P	C8orf34_ENST00000337103.4_Silent_p.P172P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	197										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGCTGATCCCCTAGCTGCTG	0.443																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(514-516)ccC>ccA		chromosome 8 open reading frame 34							108	102	104					8																	69434117		2203	4300	6503	SO:0001819	synonymous_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434117C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.591C>A	8.37:g.69434117C>A			Somatic				C8orf34_ENST00000539993.1_Silent_p.P197P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR	p.P172P			WXS	Illumina GAIIx	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2108	+			197					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37	c.516C>A																																																																																					0.443	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		6	186	6	186	---	---	---	---	A	69434117	C	A	69434117	2	1	9	1	0	0	0	0	0	0	0	1	2422	610	22	1		1	C8orf34	8	69434117	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1229907	69434117	76929905	415	654										
NCOA2	10499	broad.mit.edu	37	chr8	71128949	71128949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttgtctctgccctggagGggtcagaggtattttctccc	11	11	4	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.chr8:71128949G>T	ENST00000452400.2	-	3	213	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					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)			TGCCCTGGAGGGGTCAGAGGT	0.433			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.(31-33)cCc>cAc		nuclear receptor coactivator 2							174	165	168					8																	71128949		1863	4115	5978	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.chr8:71128949G>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.32C>A	8.37:g.71128949G>T	ENSP00000399968:p.Pro11His		Somatic					p.P11H	NM_006540.2	NP_006531.1	WXS	Illumina GAIIx	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	213	-	Breast(64;0.201)		11					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.32C>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967998	0.92855	.	.	ENSG00000140396	ENST00000452400;ENST00000519724	T	0.02974	4.09	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00038	-1.2245	10	0.87932	D	0	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	11	Q15596	NCOA2_HUMAN	H	11	ENSP00000399968:P11H	ENSP00000399968:P11H	P	-	2	0	NCOA2	71291503	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.381000	0.79718	2.861000	0.98227	0.655000	0.94253	CCC		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			6	356	6	356	---	---	---	---	T	71128949	G	T	71128949	3	4	9	1	0	0	0	0	1	0	0	0	10229	1232	43	1	4446	1	NCOA2	8	71128949	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1694832	71128949	75235073	416	655										
STAU2	27067	broad.mit.edu	37	chr8	74495061	74495061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactccatcctttgttttccCctgtctgaaagattaaatca	4	12	2	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.chr8:74495061C>A	ENST00000521451.1	-	7	882	c.506G>T	c.(505-507)gGg>gTg	p.G169V	STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000355780.5_Missense_Mutation_p.G357V			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	389	DRBM 2. {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)			TTTGTTTTCCCCTGTCTGAAA	0.368																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(1069-1071)gGg>gTg		staufen double-stranded RNA binding protein 2							139	135	137					8																	74495061		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74495061C>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	ENST00000521451.1:c.506G>T	8.37:g.74495061C>A	ENSP00000428476:p.Gly169Val		Somatic				STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000521451.1_Missense_Mutation_p.G169V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V	p.G357V	NM_014393.2	NP_055208.2	WXS	Illumina GAIIx	Phase_I	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		11	1288	-	Breast(64;0.0138)		389			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.1070G>T		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909234	0.33721	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000518502	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.0	4.06	0.47325	.	0.290019	0.39615	N	0.001320	T	0.46833	0.1413	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B;B	0.15141	0.001;0.007;0.012;0.007;0.001;0.007;0.001;0.002	B;B;B;B;B;B;B;B	0.14578	0.001;0.006;0.011;0.006;0.003;0.009;0.001;0.003	T	0.41610	-0.9499	10	0.41790	T	0.15	-34.1057	12.3243	0.55001	0.1688:0.8312:0.0:0.0	.	369;285;217;285;357;389;357;389	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	V	357;389;217;285;2;357;389;369;169;357;351;217;52	ENSP00000428456:G357V;ENSP00000428756:G389V;ENSP00000428741:G217V;ENSP00000429173:G285V;ENSP00000430511:G2V;ENSP00000348026:G357V;ENSP00000430907:G389V;ENSP00000429973:G369V;ENSP00000428476:G169V;ENSP00000427977:G357V;ENSP00000431111:G351V;ENSP00000429005:G217V;ENSP00000428284:G52V	ENSP00000344030:G217V	G	-	2	0	STAU2	74657615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.233000	0.43027	2.749000	0.94314	0.650000	0.86243	GGG		0.368	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		8	372	8	372	---	---	---	---	A	74495061	C	A	74495061	3	1	9	1	0	0	0	0	1	0	0	0	15272	623	22	1	686	1	STAU2	8	74495061	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3366112	74495061	71868961	417	656										
FABP9	646480	broad.mit.edu	37	chr8	82371443	82371443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtttcatcaaattcttccCccagcttgaaggagatctta	6	10	4	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.chr8:82371443C>A	ENST00000379071.2	-	2	258	c.203G>T	c.(202-204)gGg>gTg	p.G68V	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	68					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AAATTCTTCCCCCAGCTTGAA	0.403																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(202-204)gGg>gTg		fatty acid binding protein 9, testis							196	189	191					8																	82371443		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82371443C>A			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"Fatty acid binding protein family"	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.203G>T	8.37:g.82371443C>A	ENSP00000368362:p.Gly68Val		Somatic				RP11-157I4.4_ENST00000524085.2_RNA	p.G68V	NM_001080526.1	NP_001073995.1	WXS	Illumina GAIIx	Phase_I	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		2	258	-			68						Missense_Mutation	SNP	ENST00000379071.2	37	c.203G>T		.	.	.	.	.	.	.	.	.	.	C	18.20	3.571396	0.65765	.	.	ENSG00000205186	ENST00000379071	T	0.10005	2.92	5.11	3.28	0.37604	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.309778	0.36101	N	0.002783	T	0.38054	0.1026	M	0.90977	3.165	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.47195	-0.9136	10	0.87932	D	0	.	11.2528	0.49037	0.0:0.8431:0.0:0.1569	.	68	Q0Z7S8	FABP9_HUMAN	V	68	ENSP00000368362:G68V	ENSP00000368362:G68V	G	-	2	0	FABP9	82533998	0.895000	0.30542	0.993000	0.49108	0.949000	0.60115	1.855000	0.39378	1.389000	0.46526	-0.137000	0.14449	GGG		0.403	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		8	500	8	500	---	---	---	---	A	82371443	C	A	82371443	3	1	9	1	0	0	0	0	1	0	0	0	5363	623	22	1	206	1	FABP9	8	82371443	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7876382	82371443	63992579	418	657										
ATP6V0D2	245972	broad.mit.edu	37	chr8	87126083	87126083	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggaatcattccctggagccCctcagcacatttctcaccta	6	16	3	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.chr8:87126083C>A	ENST00000285393.3	+	2	418	c.276C>A	c.(274-276)ccC>ccA	p.P92P	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	92					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)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCTGGAGCCCCTCAGCACAT	0.438																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(274-276)ccC>ccA		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							114	118	117					8																	87126083		2203	4300	6503	SO:0001819	synonymous_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.chr8:87126083C>A	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.276C>A	8.37:g.87126083C>A			Somatic				CTD-3118D11.2_ENST00000522679.1_RNA	p.P92P	NM_152565.1	NP_689778.1	WXS	Illumina GAIIx	Phase_I	Q8N8Y2	VA0D2_HUMAN			2	418	+			92						Silent	SNP	ENST00000285393.3	37	c.276C>A	CCDS6241.1																																																																																				0.438	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		9	459	9	459	---	---	---	---	A	87126083	C	A	87126083	2	1	9	1	0	0	0	0	0	0	0	1	1174	610	22	1		1	ATP6V0D2	8	87126083	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4754640	87126083	59237939	419	658										
VPS13B	157680	broad.mit.edu	37	chr8	100883834	100883834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacacagcagcaggccttccCcgtcacagaaatcgactgtg	9	15	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.chr8:100883834C>A	ENST00000358544.2	+	61	11840	c.11729C>A	c.(11728-11730)cCc>cAc	p.P3910H	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3910					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)			CAGGCCTTCCCCGTCACAGAA	0.557																																					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.(11728-11730)cCc>cAc		vacuolar protein sorting 13 homolog B (yeast)							227	177	194					8																	100883834		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100883834C>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.11729C>A	8.37:g.100883834C>A	ENSP00000351346:p.Pro3910His		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR	p.P3910H	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		61	11840	+	Breast(36;3.73e-07)		3910					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11729C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709042	0.89018	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72394	-0.65;-0.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.81026	-0.1119	10	0.87932	D	0	.	19.4299	0.94759	0.0:1.0:0.0:0.0	.	3885;3910	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3885;3910	ENSP00000349685:P3885H;ENSP00000351346:P3910H	ENSP00000349685:P3885H	P	+	2	0	VPS13B	100953010	1.000000	0.71417	0.981000	0.43875	0.966000	0.64601	7.270000	0.78493	2.607000	0.88179	0.561000	0.74099	CCC		0.557	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	262	6	262	---	---	---	---	A	100883834	C	A	100883834	3	1	9	1	0	0	0	0	1	0	0	0	17187	623	22	1	12161	1	VPS13B	8	100883834	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	13757751	100883834	45480188	420	659										
GRHL2	79977	broad.mit.edu	37	chr8	102570793	102570793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagtacagcatcagcttccCcgagagctctgccatcatcc	7	16	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.chr8:102570793C>A	ENST00000251808.3	+	4	769	c.431C>A	c.(430-432)cCc>cAc	p.P144H	GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	144					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)			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)			ATCAGCTTCCCCGAGAGCTCT	0.522																																						ENST00000251808.3																			0				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.(430-432)cCc>cAc		grainyhead-like 2 (Drosophila)							123	120	121					8																	102570793		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570793C>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.431C>A	8.37:g.102570793C>A	ENSP00000251808:p.Pro144His		Somatic				GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	p.P144H	NM_024915.3	NP_079191.2	WXS	Illumina GAIIx	Phase_I	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	769	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		144					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.431C>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258178	0.23051	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12984	2.63;2.63	5.1	5.1	0.69264	.	0.587878	0.19343	N	0.116592	T	0.14700	0.0355	L	0.39245	1.2	0.27237	N	0.959259	B;B	0.33448	0.412;0.0	B;B	0.31191	0.125;0.002	T	0.07966	-1.0745	10	0.46703	T	0.11	-1.6395	18.5219	0.90956	0.0:1.0:0.0:0.0	.	144;144	B4DL28;Q6ISB3	.;GRHL2_HUMAN	H	144;128;144	ENSP00000251808:P144H;ENSP00000379260:P128H	ENSP00000251808:P144H	P	+	2	0	GRHL2	102639969	0.138000	0.22547	0.166000	0.22797	0.032000	0.12392	3.830000	0.55768	2.366000	0.80165	0.637000	0.83480	CCC		0.522	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		7	299	7	299	---	---	---	---	A	102570793	C	A	102570793	3	1	9	1	0	0	0	0	1	0	0	0	6764	623	22	1	445	1	GRHL2	8	102570793	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1686959	102570793	43793229	421	660										
NCALD	83988	broad.mit.edu	37	chr8	102731682	102731682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcaaatttggaagcatccCcataagggaaaaagttccca	8	10	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.chr8:102731682C>A	ENST00000311028.3	-	5	554	c.176G>T	c.(175-177)gGg>gTg	p.G59V	NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000395923.1_Missense_Mutation_p.G59V	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	59					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAGCATCCCCATAAGGGAA	0.423																																						ENST00000395923.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(175-177)gGg>gTg		neurocalcin delta							135	144	141					8																	102731682		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731682C>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"EF-hand domain containing"	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.176G>T	8.37:g.102731682C>A	ENSP00000310587:p.Gly59Val		Somatic				NCALD_ENST00000311028.3_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V	p.G59V	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	WXS	Illumina GAIIx	Phase_I	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	635	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		59					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.176G>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619301	0.87460	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.94142	3.5	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.78046	-0.2357	10	0.87932	D	0	.	19.0263	0.92934	0.0:1.0:0.0:0.0	.	59	P61601	NCALD_HUMAN	V	59	ENSP00000379256:G59V;ENSP00000310587:G59V;ENSP00000220931:G59V;ENSP00000428105:G59V;ENSP00000430476:G59V;ENSP00000428781:G59V;ENSP00000429466:G59V;ENSP00000429255:G59V;ENSP00000430731:G59V;ENSP00000430925:G59V;ENSP00000429522:G59V;ENSP00000428598:G59V;ENSP00000428312:G59V;ENSP00000429493:G59V;ENSP00000429245:G59V;ENSP00000430064:G59V;ENSP00000430534:G59V;ENSP00000428193:G59V;ENSP00000430365:G59V;ENSP00000428093:G59V	ENSP00000220931:G59V	G	-	2	0	NCALD	102800858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.731000	0.84895	2.474000	0.83562	0.557000	0.71058	GGG		0.423	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			7	562	7	562	---	---	---	---	A	102731682	C	A	102731682	3	1	9	1	0	0	0	0	1	0	0	0	10201	623	22	1	417	1	NCALD	8	102731682	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	160889	102731682	43632340	422	661										
ZFPM2	23414	broad.mit.edu	37	chr8	106811108	106811108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagatttccagcctgtgccCcttcccacagtgcaccaaga	7	16	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.chr8:106811108C>A	ENST00000407775.2	+	7	1146	c.896C>A	c.(895-897)cCc>cAc	p.P299H	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	299					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)			AGCCTGTGCCCCTTCCCACAG	0.498																																						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.(895-897)cCc>cAc		zinc finger protein, FOG family member 2							124	128	126					8																	106811108		2039	4207	6246	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.chr8:106811108C>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.896C>A	8.37:g.106811108C>A	ENSP00000384179:p.Pro299His		Somatic				RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	p.P299H	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1146	+			299					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.896C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084255	0.94100	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	6.06	6.06	0.98353	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	0.82217	0.4989	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81636	-0.0843	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	299	Q8WW38	FOG2_HUMAN	H	299;167;167;30	ENSP00000384179:P299H;ENSP00000430757:P167H;ENSP00000428720:P167H;ENSP00000367733:P30H	ENSP00000367733:P30H	P	+	2	0	ZFPM2	106880284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	CCC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	316	7	316	---	---	---	---	A	106811108	C	A	106811108	3	1	9	1	0	0	0	0	1	0	0	0	17655	623	22	1	922	1	ZFPM2	8	106811108	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4079426	106811108	39552914	423	662										
ZFPM2	23414	broad.mit.edu	37	chr8	106815538	106815538	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagacgaccacaaatctccCtcgtggatctctgagaaccc	8	14	2	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.chr8:106815538C>A	ENST00000407775.2	+	8	3478	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	ZFPM2_ENST00000517361.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.P807P|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1076					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)			ACAAATCTCCCTCGTGGATCT	0.478																																						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.(3226-3228)ccC>ccA		zinc finger protein, FOG family member 2							60	60	60					8																	106815538		1934	4128	6062	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.chr8:106815538C>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.3228C>A	8.37:g.106815538C>A			Somatic				RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	p.P1076P	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3478	+			1076					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3228C>A	CCDS47908.1																																																																																				0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	74	4	74	---	---	---	---	A	106815538	C	A	106815538	2	1	9	1	0	0	0	0	0	0	0	1	17655	668	24	1		1	ZFPM2	8	106815538	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4430	106815538	39548484	424	663										
PKHD1L1	93035	broad.mit.edu	37	chr8	110412391	110412391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatacaatgaaaaaacgcctGggtacatgggtgccagttgg	12	7	0	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.chr8:110412391G>T	ENST00000378402.5	+	13	1203	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	367					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)			AAAAACGCCTGGGTACATGGG	0.448										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.(1099-1101)Ggg>Tgg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							278	272	274					8																	110412391		1867	4100	5967	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412391G>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.1099G>T	8.37:g.110412391G>T	ENSP00000367655:p.Gly367Trp	HNSCC(38;0.096)	Somatic					p.G367W	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1203	+			367					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1099G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148964	0.57151	.	.	ENSG00000205038	ENST00000378402	T	0.22539	1.95	5.21	5.21	0.72293	PA14 (1);	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	M	0.71206	2.165	0.41617	D	0.988946	D	0.89917	1.0	D	0.75484	0.986	T	0.37291	-0.9712	10	0.72032	D	0.01	.	9.8106	0.40820	0.0942:0.0:0.9058:0.0	.	367	Q86WI1	PKHL1_HUMAN	W	367	ENSP00000367655:G367W	ENSP00000367655:G367W	G	+	1	0	PKHD1L1	110481567	1.000000	0.71417	0.955000	0.39395	0.539000	0.34962	5.546000	0.67243	2.409000	0.81822	0.563000	0.77884	GGG		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	665	8	665	---	---	---	---	T	110412391	G	T	110412391	3	4	9	1	0	0	0	0	1	0	0	0	11972	1348	47	1	1149	1	PKHD1L1	8	110412391	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3596853	110412391	35951631	425	664										
TAF2	6873	broad.mit.edu	37	chr8	120759089	120759089	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaacccaagctctggcaaGggtaaacaggaaggtctact	10	11	2	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.chr8:120759089G>T	ENST00000378164.2	-	23	3262	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	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	988					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)			GCTCTGGCAAGGGTAAACAGG	0.438																																						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.(2962-2964)ccC>ccA		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							122	113	116					8																	120759089		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:120759089G>T	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.2964C>A	8.37:g.120759089G>T			Somatic					p.P988P	NM_003184.3	NP_003175	WXS	Illumina GAIIx	Phase_I	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	3262	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		988					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.2964C>A	CCDS34937.1																																																																																				0.438	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		6	323	6	323	---	---	---	---	T	120759089	G	T	120759089	2	4	9	1	0	0	0	0	0	0	0	1	15521	987	35	1		1	TAF2	8	120759089	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	10346698	120759089	25604933	426	665										
HAS2	3037	broad.mit.edu	37	chr8	122626619	122626619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttttccttcctgatgtgccCcacccagctttgtttattgt	7	12	0	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.chr8:122626619C>A	ENST00000303924.4	-	4	1926	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	463					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)			CTGATGTGCCCCACCCAGCTT	0.408																																						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.(1387-1389)tgG>tgT		hyaluronan synthase 2							128	127	128					8																	122626619		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626619C>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.1389G>T	8.37:g.122626619C>A	ENSP00000306991:p.Trp463Cys		Somatic					p.W463C	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1926	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		463					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1389G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927425	0.52759	.	.	ENSG00000170961	ENST00000303924	T	0.76316	-1.01	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93361	0.6727	10	0.87932	D	0	-9.9509	17.6945	0.88277	0.0:0.8773:0.1227:0.0	.	463	Q92819	HAS2_HUMAN	C	463	ENSP00000306991:W463C	ENSP00000306991:W463C	W	-	3	0	HAS2	122695800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	1.611000	0.50210	0.655000	0.94253	TGG		0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		8	538	8	538	---	---	---	---	A	122626619	C	A	122626619	3	1	9	1	0	0	0	0	1	0	0	0	6962	624	22	1	273	1	HAS2	8	122626619	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1867530	122626619	23737403	427	666										
ZHX2	22882	broad.mit.edu	37	chr8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcacacttgccgtggcagGagtcaccaaccatggccaga	10	14	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.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		Somatic					p.G399V	NM_014943.3	NP_055758.1	WXS	Illumina GAIIx	Phase_I	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	25	57	---	---	---	---	T	123964946	G	T	123964946	3	4	9	1	0	0	0	0	1	0	0	0	17673	1174	41	3	1198	3	ZHX2	8	123964946	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1338327	123964946	22399076	428	667										
WDR67	93594	broad.mit.edu	37	chr8	124096568	124096568	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaatattcgccagtctgtGggtatacagaaggtcagtga	12	7	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.chr8:124096568G>T	ENST00000287380.1	+	4	597	c.507G>T	c.(505-507)gtG>gtT	p.V169V	TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000378080.2_Silent_p.V64V	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	169						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GCCAGTCTGTGGGTATACAGA	0.413																																						ENST00000287380.1																			0											c.(505-507)gtG>gtT		TBC1 domain family, member 31							113	108	110					8																	124096568		2203	4300	6503	SO:0001819	synonymous_variant	93594							g.chr8:124096568G>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.507G>T	8.37:g.124096568G>T			Somatic				TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000378080.2_Silent_p.V64V	p.V169V	NM_145647.3	NP_663622.2	WXS	Illumina GAIIx	Phase_I					4	597	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.507G>T	CCDS6338.1																																																																																				0.413	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		6	303	6	303	---	---	---	---	T	124096568	G	T	124096568	2	4	9	1	0	0	0	0	0	0	0	1	17315	1335	47	1		1	WDR67	8	124096568	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	131622	124096568	22267454	429	668										
ANXA13	312	broad.mit.edu	37	chr8	124693587	124693587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggaactttgctttgatccCctgaaggtccacctgtagaa	9	10	0	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.chr8:124693587C>A	ENST00000419625.1	-	11	916	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W	ANXA13_ENST00000262219.6_Missense_Mutation_p.G323W	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	282					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)			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)			GCTTTGATCCCCTGAAGGTCC	0.443																																						ENST00000262219.6																			0				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.(967-969)Ggg>Tgg		annexin A13							154	163	160					8																	124693587		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693587C>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.844G>T	8.37:g.124693587C>A	ENSP00000390809:p.Gly282Trp		Somatic				ANXA13_ENST00000419625.1_Missense_Mutation_p.G282W	p.G323W	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1034	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		282					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.967G>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261148	0.23051	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03301	3.98;3.98	5.81	4.02	0.46733	Annexin repeat, conserved site (1);	0.205397	0.52532	D	0.000072	T	0.05823	0.0152	L	0.28400	0.85	0.09310	N	1	P;P	0.45474	0.859;0.83	P;P	0.52957	0.714;0.591	T	0.18147	-1.0346	10	0.87932	D	0	.	6.1958	0.20550	0.148:0.6934:0.0:0.1586	.	282;323	P27216;P27216-2	ANX13_HUMAN;.	W	323;282	ENSP00000262219:G323W;ENSP00000390809:G282W	ENSP00000262219:G323W	G	-	1	0	ANXA13	124762768	0.001000	0.12720	0.878000	0.34440	0.030000	0.12068	-0.060000	0.11712	1.465000	0.48006	-0.137000	0.14449	GGG		0.443	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		8	494	8	494	---	---	---	---	A	124693587	C	A	124693587	3	1	9	1	0	0	0	0	1	0	0	0	717	623	22	1	110	1	ANXA13	8	124693587	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	597019	124693587	21670435	430	669										
FER1L6	654463	broad.mit.edu	37	chr8	124992823	124992823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggaaggtgtgtcattcagGggcagaatcttggtagaaat	16	4	3	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.chr8:124992823G>T	ENST00000522917.1	+	11	1388	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	394						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)			TGTCATTCAGGGGCAGAATCT	0.512											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1180-1182)agG>agT		fer-1-like 6 (C. elegans)							164	164	164					8																	124992823		1885	4115	6000	SO:0001583	missense	654463					integral to membrane		g.chr8:124992823G>T	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.1182G>T	8.37:g.124992823G>T	ENSP00000428280:p.Arg394Ser		Somatic	OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	p.R394S	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1388	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		394						Missense_Mutation	SNP	ENST00000522917.1	37	c.1182G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614245	0.66672	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.85088	-1.94;-1.94	5.53	3.74	0.42951	C2 calcium/lipid-binding domain, CaLB (1);	0.066446	0.56097	U	0.000022	D	0.92348	0.7572	M	0.89534	3.04	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.91453	0.5183	10	0.72032	D	0.01	.	8.351	0.32303	0.2955:0.0:0.7045:0.0	.	394	Q2WGJ9	FR1L6_HUMAN	S	394	ENSP00000428280:R394S;ENSP00000381982:R394S	ENSP00000381982:R394S	R	+	3	2	FER1L6	125062004	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.957000	0.29215	0.712000	0.32039	-0.136000	0.14681	AGG		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	352	8	352	---	---	---	---	T	124992823	G	T	124992823	3	4	9	1	0	0	0	0	1	0	0	0	5815	1223	43	1	1220	1	FER1L6	8	124992823	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	299236	124992823	21371199	431	670										
ASAP1	50807	broad.mit.edu	37	chr8	131138263	131138263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatgcgagaaatatgaaccCccatttccctatggatgcca	8	11	0	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.chr8:131138263C>A	ENST00000518721.1	-	17	1681	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ASAP1_ENST00000357668.1_Missense_Mutation_p.G485V	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	485	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						AATATGAACCCCCATTTCCCT	0.398																																						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.(1453-1455)gGg>gTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							91	86	88					8																	131138263		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.chr8:131138263C>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.1454G>T	8.37:g.131138263C>A	ENSP00000429900:p.Gly485Val		Somatic				ASAP1_ENST00000518721.1_Missense_Mutation_p.G485V	p.G485V			WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			16	1481	-			485			Arf-GAP.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1454G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004700	0.93287	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.55413	0.52;0.52	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91473	0.5198	10	0.87932	D	0	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	485;485;488	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	488;485;485	ENSP00000350297:G485V;ENSP00000429900:G485V	ENSP00000344591:G488V	G	-	2	0	ASAP1	131207445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.836000	0.97738	0.655000	0.94253	GGG		0.398	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	308	6	308	---	---	---	---	A	131138263	C	A	131138263	3	1	9	1	0	0	0	0	1	0	0	0	1010	623	22	1	1991	1	ASAP1	8	131138263	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6145440	131138263	15225759	432	671										
ZFAT	57623	broad.mit.edu	37	chr8	135524772	135524772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccaccgctgcctgtgtccCttgaacgtcttcttcggcct	10	16	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.chr8:135524772C>A	ENST00000377838.3	-	14	3481	c.3307G>T	c.(3307-3309)Ggg>Tgg	p.G1103W	ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520727.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1103					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)			GCCTGTGTCCCTTGAACGTCT	0.527																																						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.(3271-3273)Ggg>Tgg		zinc finger and AT hook domain containing							164	174	170					8																	135524772		2004	4171	6175	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524772C>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.3307G>T	8.37:g.135524772C>A	ENSP00000367069:p.Gly1103Trp		Somatic				ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000377838.3_Missense_Mutation_p.G1103W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W	p.G1091W	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3570	-	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)		1103					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3271G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611172	0.46631	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.15718	2.6;2.4;2.59;2.6;2.63	4.8	3.92	0.45320	.	0.242826	0.42964	D	0.000622	T	0.27933	0.0688	L	0.29908	0.895	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.978	T	0.01894	-1.1252	10	0.44086	T	0.13	-33.1874	12.3768	0.55285	0.0:0.9188:0.0:0.0812	.	222;1041;1103	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	W	1091;1091;1103;1091;990;1041	ENSP00000427831:G1091W;ENSP00000394501:G1091W;ENSP00000367069:G1103W;ENSP00000428483:G1091W;ENSP00000429091:G1041W	ENSP00000326997:G990W	G	-	1	0	ZFAT	135593954	1.000000	0.71417	0.991000	0.47740	0.095000	0.18619	5.817000	0.69229	1.383000	0.46405	0.563000	0.77884	GGG		0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		8	498	8	498	---	---	---	---	A	135524772	C	A	135524772	3	1	9	1	0	0	0	0	1	0	0	0	17629	681	24	1	436	1	ZFAT	8	135524772	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4386509	135524772	10839250	433	672										
COL22A1	169044	broad.mit.edu	37	chr8	139737668	139737668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggggggcctgggacaccagGgggtcctggagggccctgta	20	10	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.chr8:139737668G>T	ENST00000303045.6	-	24	2601	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	719	Collagen-like 5.|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)			GGGACACCAGGGGGTCCTGGA	0.582										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.(2155-2157)Cct>Act		collagen, type XXII, alpha 1							51	59	56					8																	139737668		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737668G>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.2155C>A	8.37:g.139737668G>T	ENSP00000303153:p.Pro719Thr	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	p.P719T	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2601	-	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)		719			Collagen-like 5.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2155C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700930	0.30142	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98666	-5.06;-5.06	4.94	4.07	0.47477	.	0.000000	0.49916	D	0.000132	D	0.97949	0.9325	M	0.68728	2.09	0.44539	D	0.997494	P;P	0.47409	0.872;0.895	P;P	0.52598	0.578;0.703	D	0.96612	0.9453	10	0.22706	T	0.39	.	9.9387	0.41567	0.0965:0.0:0.9035:0.0	.	719;719	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	719;719;432	ENSP00000303153:P719T;ENSP00000387655:P719T	ENSP00000303153:P719T	P	-	1	0	COL22A1	139806850	0.982000	0.34865	0.638000	0.29380	0.820000	0.46376	2.896000	0.48656	1.390000	0.46547	-0.140000	0.14226	CCT		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	229	7	229	---	---	---	---	T	139737668	G	T	139737668	3	4	9	1	0	0	0	0	1	0	0	0	3681	1232	43	1	2893	1	COL22A1	8	139737668	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4212896	139737668	6626354	434	673										
RPL8	6132	broad.mit.edu	37	chr8	146015222	146015222	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgcacagtcttggttccCcggagacgtccagtccggcg	12	15	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.chr8:146015222C>A	ENST00000262584.3	-	6	973	c.741G>T	c.(739-741)cgG>cgT	p.R247R	RPL8_ENST00000527914.1_Silent_p.R138R|ZNF34_ENST00000343459.4_5'Flank|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R|RPL8_ENST00000394920.2_Silent_p.R247R|ZNF34_ENST00000429371.2_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	247					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)			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)		TCTTGGTTCCCCGGAGACGTC	0.587																																						ENST00000262584.3																			0				kidney(12)|lung(7)|prostate(1)	20						c.(739-741)cgG>cgT		ribosomal protein L8							137	141	140					8																	146015222		2203	4300	6503	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146015222C>A	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.741G>T	8.37:g.146015222C>A			Somatic				RPL8_ENST00000394920.2_Silent_p.R247R|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R	p.R247R	NM_000973.3	NP_000964.1	WXS	Illumina GAIIx	Phase_I	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)	6	973	-	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)		247					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.741G>T	CCDS6433.1																																																																																				0.587	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		9	493	9	493	---	---	---	---	A	146015222	C	A	146015222	2	1	9	1	0	0	0	0	0	0	0	1	13602	610	22	1		1	RPL8	8	146015222	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6277554	146015222	348800	435	674										
DMRT2	10655	broad.mit.edu	37	chr9	1056357	1056357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagagagaatataaagaaaGggagatgttggaaacttctc	13	3	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.chr9:1056357G>T	ENST00000358146.2	+	3	770	c.770G>T	c.(769-771)aGg>aTg	p.R257M	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.R257M|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	257					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)		TATAAAGAAAGGGAGATGTTG	0.478																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(769-771)aGg>aTg		doublesex and mab-3 related transcription factor 2							106	106	106					9																	1056357		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.chr9:1056357G>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.770G>T	9.37:g.1056357G>T	ENSP00000350865:p.Arg257Met		Somatic				DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M	p.R257M			WXS	Illumina GAIIx	Phase_I	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1099	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	257					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.770G>T	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855418	0.71719	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.36157	1.27;1.27;1.27	5.42	5.42	0.78866	.	0.227100	0.44483	D	0.000452	T	0.61048	0.2316	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.63571	-0.6607	10	0.87932	D	0	-19.9264	18.8147	0.92072	0.0:0.0:1.0:0.0	.	257;101	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	M	257	ENSP00000371686:R257M;ENSP00000305785:R257M;ENSP00000350865:R257M	ENSP00000305785:R257M	R	+	2	0	DMRT2	1046357	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	2.558000	0.86282	0.585000	0.79938	AGG		0.478	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		6	266	6	266	---	---	---	---	T	1056357	G	T	1056357	3	4	9	1	0	0	0	0	1	0	0	0	4586	1000	35	1	837	1	DMRT2	9	1056357	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		1056357	140157074	436	675										
SMARCA2	6595	broad.mit.edu	37	chr9	2073246	2073246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagccagatgagtgacctccCtgtcaaagtgactcacacag	9	13	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.chr9:2073246C>A	ENST00000382203.1	+	11	1990	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	594					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)		AGTGACCTCCCTGTCAAAGTG	0.517																																						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.(1780-1782)cCt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							79	81	80					9																	2073246		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.chr9:2073246C>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.1781C>A	9.37:g.2073246C>A	ENSP00000371638:p.Pro594His		Somatic				SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H	p.P594H			WXS	Illumina GAIIx	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	11	1990	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	594					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1781C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280792	0.80692	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.74	5.74	0.90152	BRK domain (2);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.33137	0.985	0.80722	D	1	B;D;D	0.89917	0.02;1.0;1.0	B;D;D	0.91635	0.029;0.999;0.999	T	0.49698	-0.8912	10	0.21014	T	0.42	-15.067	19.9306	0.97117	0.0:1.0:0.0:0.0	.	195;594;594	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	594	ENSP00000265773:P594H;ENSP00000349788:P594H;ENSP00000371638:P594H;ENSP00000371629:P594H	ENSP00000265773:P594H	P	+	2	0	SMARCA2	2063246	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	7.702000	0.84576	2.732000	0.93576	0.591000	0.81541	CCT		0.517	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	81	4	81	---	---	---	---	A	2073246	C	A	2073246	3	1	9	1	0	0	0	0	1	0	0	0	14769	681	24	1	1819	1	SMARCA2	9	2073246	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1016889	2073246	139140185	437	676										
ERMP1	79956	broad.mit.edu	37	chr9	5811200	5811200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgattgagccaatacgagagGggtaggcaatgacaaacagg	14	6	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.chr9:5811200G>T	ENST00000339450.5	-	7	1327	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	413						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			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)		AATACGAGAGGGGTAGGCAAT	0.418																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1237-1239)cCc>cAc		endoplasmic reticulum metallopeptidase 1							174	146	156					9																	5811200		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811200G>T	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.1238C>A	9.37:g.5811200G>T	ENSP00000340427:p.Pro413His		Somatic				ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000214893.5_5'UTR	p.P413H	NM_024896.2	NP_079172.2	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	7	1327	-		Acute lymphoblastic leukemia(23;0.158)	413					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1238C>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951941	0.92660	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.52295	0.67	5.9	5.9	0.94986	.	0.053993	0.85682	D	0.000000	T	0.64294	0.2585	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63821	-0.6550	10	0.72032	D	0.01	-18.4942	20.2822	0.98520	0.0:0.0:1.0:0.0	.	413	Q7Z2K6	ERMP1_HUMAN	H	413;189	ENSP00000340427:P413H	ENSP00000340427:P413H	P	-	2	0	ERMP1	5801200	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.832000	0.99423	2.806000	0.96561	0.655000	0.94253	CCC		0.418	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		6	185	6	185	---	---	---	---	T	5811200	G	T	5811200	3	4	9	1	0	0	0	0	1	0	0	0	5236	1232	43	1	1512	1	ERMP1	9	5811200	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3737954	5811200	135402231	438	677										
PTPRD	5789	broad.mit.edu	37	chr9	8518276	8518276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtagcgtgtggtcgccaccCcatcaatttctttgtaaagt	9	10	2	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.chr9:8518276C>A	ENST00000381196.4	-	18	1658	c.1115G>T	c.(1114-1116)gGg>gTg	p.G372V	PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	372	Fibronectin type-III 1. {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)		GGTCGCCACCCCATCAATTTC	0.478										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.(1114-1116)gGg>gTg		protein tyrosine phosphatase, receptor type, D							136	141	139					9																	8518276		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.chr9:8518276C>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.1115G>T	9.37:g.8518276C>A	ENSP00000370593:p.Gly372Val	TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V	p.G372V	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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)	18	1658	-		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)	372			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1115G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	8.035	0.762512	0.15914	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.35	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.49455	1.56	0.80722	D	1	P;P;D;P;B;P;D;D;P	0.89917	0.755;0.947;0.987;0.537;0.217;0.946;0.987;1.0;0.886	P;P;D;B;B;P;P;D;P	0.97110	0.593;0.83;0.953;0.297;0.138;0.848;0.761;1.0;0.513	T	0.68469	-0.5400	9	.	.	.	.	13.9782	0.64285	0.0:0.9265:0.0:0.0735	.	362;366;372;372;369;369;359;372;372	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	372;372;359;359;372;362;369;369;372;372;372;362	ENSP00000370593:G372V;ENSP00000348812:G372V;ENSP00000353187:G359V;ENSP00000351293:G359V;ENSP00000347373:G372V;ENSP00000380741:G362V;ENSP00000380735:G369V;ENSP00000440515:G369V;ENSP00000438164:G372V;ENSP00000417093:G372V;ENSP00000380731:G362V	.	G	-	2	0	PTPRD	8508276	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	5.729000	0.68538	1.251000	0.43983	0.460000	0.39030	GGG		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	252	8	252	---	---	---	---	A	8518276	C	A	8518276	3	1	9	1	0	0	0	0	1	0	0	0	12799	623	22	1	4795	1	PTPRD	9	8518276	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2707076	8518276	132695155	439	678										
MPDZ	8777	broad.mit.edu	37	chr9	13168467	13168467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taatggacaagatgcagtccCcaatggcaatccggccatct	9	12	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.chr9:13168467C>A	ENST00000319217.7	-	22	3399	c.3152G>T	c.(3151-3153)gGg>gTg	p.G1051V	MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000538841.1_5'Flank|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1051	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)		GATGCAGTCCCCAATGGCAAT	0.463																																						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.(3151-3153)gGg>gTg		multiple PDZ domain protein							214	209	210					9																	13168467		1975	4164	6139	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168467C>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.3152G>T	9.37:g.13168467C>A	ENSP00000320006:p.Gly1051Val		Somatic				MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V	p.G1051V	NM_001261406.1	NP_001248335.1	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3399	-			1051			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3152G>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.473928	0.84640	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.12	5.12	0.69794	.	0.000000	0.40640	N	0.001053	D	0.84804	0.5553	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90092	0.4178	10	0.87932	D	0	.	18.9337	0.92577	0.0:1.0:0.0:0.0	.	1051;1051;1051	B7ZMI4;O75970-3;O75970-2	.;.;.	V	1051;1051;1051;57;1051;1051;1051;1001;1051	ENSP00000320006:G1051V;ENSP00000439807:G1051V;ENSP00000370410:G1051V;ENSP00000444230:G57V;ENSP00000444151:G1051V;ENSP00000415208:G1051V;ENSP00000370403:G1051V;ENSP00000446358:G1051V	ENSP00000320006:G1051V	G	-	2	0	MPDZ	13158467	1.000000	0.71417	0.994000	0.49952	0.776000	0.43924	7.445000	0.80570	2.540000	0.85666	0.655000	0.94253	GGG		0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		9	448	9	448	---	---	---	---	A	13168467	C	A	13168467	3	1	9	1	0	0	0	0	1	0	0	0	9722	623	22	1	3073	1	MPDZ	9	13168467	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4650191	13168467	128044964	440	679										
IFNA21	3452	broad.mit.edu	37	chr9	21166427	21166427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccatcaaactcctcctggGggaatccaaagtcatgtctg	9	12	3	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.chr9:21166427G>T	ENST00000380225.1	-	1	232	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	62					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)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTCCTGGGGGAATCCAAA	0.512																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(184-186)cCc>cAc		interferon, alpha 21							139	140	140					9																	21166427		2203	4300	6503	SO:0001583	missense	3452				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.chr9:21166427G>T		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"Interferons"	5424	protein-coding gene	gene with protein product	"leukocyte interferon protein"	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.185C>A	9.37:g.21166427G>T	ENSP00000369574:p.Pro62His		Somatic					p.P62H	NM_002175.2	NP_002166.2	WXS	Illumina GAIIx	Phase_I	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	232	-			62					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.185C>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	17.53	3.413322	0.62511	.	.	ENSG00000137080	ENST00000380225	T	0.34275	1.37	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	H	0.96460	3.825	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66412	-0.5930	10	0.87932	D	0	.	11.6126	0.51069	0.0:0.0:1.0:0.0	.	62	P01568	IFN21_HUMAN	H	62	ENSP00000369574:P62H	ENSP00000369574:P62H	P	-	2	0	IFNA21	21156427	0.447000	0.25673	0.045000	0.18777	0.473000	0.32948	2.614000	0.46359	2.080000	0.62538	0.644000	0.83932	CCC		0.512	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		7	314	7	314	---	---	---	---	T	21166427	G	T	21166427	3	4	9	1	0	0	0	0	1	0	0	0	7538	1232	43	1	388	1	IFNA21	9	21166427	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	7997960	21166427	120047004	441	680										
ACO1	48	broad.mit.edu	37	chr9	32420870	32420870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttagcacctccgccaggttgGggtagtgggcaaatttgtcg	14	9	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.chr9:32420870G>T	ENST00000309951.6	+	8	953	c.815G>T	c.(814-816)gGg>gTg	p.G272V	ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	272					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)		CGCCAGGTTGGGGTAGTGGGC	0.483																																						ENST00000309951.6																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(814-816)gGg>gTg		aconitase 1, soluble							153	149	150					9																	32420870		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.chr9:32420870G>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.815G>T	9.37:g.32420870G>T	ENSP00000309477:p.Gly272Val		Somatic				ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	p.G272V	NM_002197.2	NP_002188.1	WXS	Illumina GAIIx	Phase_I	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	8	953	+								D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.815G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856961	0.91433	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61158	0.13;0.13;0.13	5.62	5.62	0.85841	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87402	0.6168	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92731	0.6200	10	0.87932	D	0	-7.9122	18.4318	0.90628	0.0:0.0:1.0:0.0	.	308;272	Q59FI0;P21399	.;ACOC_HUMAN	V	308;272;272;272;173	ENSP00000309477:G272V;ENSP00000369255:G272V;ENSP00000438733:G173V	ENSP00000309477:G272V	G	+	2	0	ACO1	32410870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	GGG		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	252	6	252	---	---	---	---	T	32420870	G	T	32420870	3	4	9	1	0	0	0	0	1	0	0	0	146	1232	43	1	841	1	ACO1	9	32420870	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11254443	32420870	108792561	442	681										
TAF1L	138474	broad.mit.edu	37	chr9	32631563	32631563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgaagacaattttggtccCttcaaccttgataagttctt	6	11	2	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.chr9:32631563C>A	ENST00000242310.4	-	1	4104	c.4015G>T	c.(4015-4017)Ggg>Tgg	p.G1339W	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	1339					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)		ATTTTGGTCCCTTCAACCTTG	0.428																																						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.(4015-4017)Ggg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							234	236	235					9																	32631563		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.chr9:32631563C>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.4015G>T	9.37:g.32631563C>A	ENSP00000418379:p.Gly1339Trp		Somatic					p.G1339W	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4104	-			1339					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4015G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867302	0.72065	.	.	ENSG00000122728	ENST00000242310	T	0.12147	2.71	1.56	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.01626	-1.1309	10	0.87932	D	0	.	8.618	0.33845	0.0:1.0:0.0:0.0	.	1339	Q8IZX4	TAF1L_HUMAN	W	1339	ENSP00000418379:G1339W	ENSP00000418379:G1339W	G	-	1	0	TAF1L	32621563	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	5.098000	0.64548	0.507000	0.28148	0.195000	0.17529	GGG		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	620	11	620	---	---	---	---	A	32631563	C	A	32631563	3	1	9	1	0	0	0	0	1	0	0	0	15520	681	24	1	1469	1	TAF1L	9	32631563	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	210693	32631563	108581868	443	682										
TAF1L	138474	broad.mit.edu	37	chr9	32633778	32633778	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atattccctccaaaggtgccCcgaagaccctgttgcttggg	10	13	0	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.chr9:32633778C>A	ENST00000242310.4	-	1	1889	c.1800G>T	c.(1798-1800)cgG>cgT	p.R600R	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	600					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)		CAAAGGTGCCCCGAAGACCCT	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.(1798-1800)cgG>cgT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							152	160	157					9																	32633778		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:32633778C>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.1800G>T	9.37:g.32633778C>A			Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.R600R	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1889	-			600					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1800G>T	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	405	7	405	---	---	---	---	A	32633778	C	A	32633778	2	1	9	1	0	0	0	0	0	0	0	1	15520	610	22	1		1	TAF1L	9	32633778	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2215	32633778	108579653	444	683										
PRSS3	5646	broad.mit.edu	37	chr9	33796754	33796754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacttctgcggtggctccCtcatcagcgaacagtgggtg	12	14	3	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.chr9:33796754C>A	ENST00000361005.5	+	2	325	c.325C>A	c.(325-327)Ctc>Atc	p.L109I	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	109	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CGGTGGCTCCCTCATCAGCGA	0.572																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(325-327)Ctc>Atc		protease, serine, 3							122	125	124					9																	33796754		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796754C>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.325C>A	9.37:g.33796754C>A	ENSP00000354280:p.Leu109Ile		Somatic				RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I	p.L109I	NM_007343.3	NP_031369	WXS	Illumina GAIIx	Phase_I	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	325	+			109			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.325C>A	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790959	0.50102	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	T;T;D;T;D	0.96587	-0.63;-0.7;-4.06;-0.63;-4.06	3.21	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	N	0.13198	0.31	0.51767	D	0.999931	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;1.0;1.0	D	0.95394	0.8484	10	0.66056	D	0.02	.	12.3047	0.54895	0.0:1.0:0.0:0.0	.	52;109;66	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	I	109;64;66;45;52	ENSP00000354280:L109I;ENSP00000401249:L64I;ENSP00000340889:L66I;ENSP00000401828:L45I;ENSP00000368715:L52I	ENSP00000340889:L66I	L	+	1	0	PRSS3	33786754	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.096000	0.64535	1.538000	0.49270	0.306000	0.20318	CTC		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		5	156	5	156	---	---	---	---	A	33796754	C	A	33796754	3	1	9	1	0	0	0	0	1	0	0	0	12622	681	24	1	375	1	PRSS3	9	33796754	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1162976	33796754	107416677	445	684										
KIAA1045	23349	broad.mit.edu	37	chr9	34971620	34971620	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcgttcatccgccccaccCggaagctggatgatgacaaa	10	14	1	2	rs201860472	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.chr9:34971620C>A	ENST00000242315.3	+	2	407	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.R109R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							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)			CCGCCCCACCCGGAAGCTGGA	0.602																																						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.(325-327)Cgg>Agg		KIAA1045							122	132	129					9																	34971620		1930	4142	6072	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34971620C>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.325C>A	9.37:g.34971620C>A			Somatic				KIAA1045_ENST00000544237.1_Silent_p.R109R|KIAA1045_ENST00000476115.2_Intron	p.R109R	NM_015297.1	NP_056112.1	WXS	Illumina GAIIx	Phase_I	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	407	+			109					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.325C>A	CCDS43796.1																																																																																				0.602	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		5	255	5	255	---	---	---	---	A	34971620	C	A	34971620	2	1	9	1	0	0	0	0	0	0	0	1	8207	643	23	1		1	KIAA1045	9	34971620	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1174866	34971620	106241811	446	685										
CD72	971	broad.mit.edu	37	chr9	35618112	35618112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccccatcatcatcagccCctgggtctagagagaagaga	9	12	4	3	rs150199723		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.chr9:35618112C>A	ENST00000396757.1	-	3	253	c.89G>T	c.(88-90)gGg>gTg	p.G30V	CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V			P21854	CD72_HUMAN	CD72 molecule	30					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCATCAGCCCCTGGGTCTAG	0.557																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(88-90)gGg>gTg		CD72 molecule							125	129	128					9																	35618112		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35618112C>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.89G>T	9.37:g.35618112C>A	ENSP00000379980:p.Gly30Val		Somatic				CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR	p.G30V			WXS	Illumina GAIIx	Phase_I	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	253	-			30						Missense_Mutation	SNP	ENST00000396757.1	37	c.89G>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355964	0.41700	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431;ENST00000378430	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.36	1.62	0.23740	.	0.702500	0.13224	N	0.404169	T	0.38957	0.1060	L	0.44542	1.39	0.19300	N	0.99997	B;D;D	0.57571	0.007;0.98;0.98	B;P;P	0.52343	0.009;0.696;0.696	T	0.16512	-1.0400	10	0.30854	T	0.27	-12.2062	3.3713	0.07222	0.168:0.1916:0.0:0.6404	.	30;30;30	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	V	30	ENSP00000379980:G30V;ENSP00000259633:G30V;ENSP00000367688:G30V;ENSP00000367687:G30V	ENSP00000259633:G30V	G	-	2	0	CD72	35608112	0.008000	0.16893	0.002000	0.10522	0.011000	0.07611	0.201000	0.17276	0.020000	0.15106	-0.302000	0.09304	GGG		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		6	279	6	279	---	---	---	---	A	35618112	C	A	35618112	3	1	9	1	0	0	0	0	1	0	0	0	3034	623	22	1	1018	1	CD72	9	35618112	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	646492	35618112	105595319	447	686										
SPAG8	4882	broad.mit.edu	37	chr9	35811260	35811260	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcttccctttaatgtctggGggtttccatagtcctcgggc	11	11	1	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.chr9:35811260G>T	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000484764.1_Silent_p.P259P|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Silent_p.P261P	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)	TAATGTCTGGGGGTTTCCATA	0.522																																						ENST00000340291.2																			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.(781-783)ccC>ccA		sperm associated antigen 8							107	126	120					9																	35811260		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811260G>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.35811260G>T			Somatic				SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.P259P	p.P261P	NM_172312.1	NP_758516.1	WXS	Illumina GAIIx	Phase_I	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	907	-	all_epithelial(49;0.161)		261					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.783C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	3.961	-0.010234	0.07727	.	.	ENSG00000137098	ENST00000497810	T	0.36878	1.23	5.44	2.59	0.31030	.	0.716543	0.12704	N	0.446105	T	0.33440	0.0863	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.21586	-1.0241	7	0.44086	T	0.13	-2.6489	6.7109	0.23276	0.291:0.0:0.709:0.0	.	.	.	.	H	259	ENSP00000417462:P259H	ENSP00000417462:P259H	P	-	2	0	SPAG8	35801260	0.024000	0.19004	0.012000	0.15200	0.074000	0.17049	0.723000	0.25939	0.403000	0.25479	0.655000	0.94253	CCC		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			8	385	8	385	---	---	---	---	T	35811260	G	T	35811260	1	4	9	0	1	0	0	0	0	0	0	0	14984	1219	43	1		1	SPAG8	9	35811260	IGR	SNP	G	TCGA-CH-5739-01A-11D-1576-08	193148	35811260	105402171	448	687										
FBXO10	26267	broad.mit.edu	37	chr9	37541291	37541291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccacttcacccaacttccCctgccctacaatctccacag	4	20	2	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.chr9:37541291C>A	ENST00000432825.2	-	2	523	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	159					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)		CCCAACTTCCCCTGCCCTACA	0.562																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(475-477)Ggg>Tgg		F-box protein 10							158	163	162					9																	37541291		2091	4222	6313	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541291C>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.475G>T	9.37:g.37541291C>A	ENSP00000403802:p.Gly159Trp		Somatic				FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	p.G159W	NM_012166.2	NP_036298.2	WXS	Illumina GAIIx	Phase_I	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	523	-			159					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.475G>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850595	0.71719	.	.	ENSG00000147912	ENST00000432825	T	0.57595	0.39	6.07	6.07	0.98685	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66810	-0.5829	10	0.87932	D	0	-31.2116	19.4153	0.94694	0.0:1.0:0.0:0.0	.	159	Q9UK96	FBX10_HUMAN	W	159	ENSP00000403802:G159W	ENSP00000276960:G159W	G	-	1	0	FBXO10	37531291	1.000000	0.71417	0.975000	0.42487	0.316000	0.28119	4.655000	0.61476	2.890000	0.99128	0.650000	0.86243	GGG		0.562	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			7	240	7	240	---	---	---	---	A	37541291	C	A	37541291	3	1	9	1	0	0	0	0	1	0	0	0	5726	623	22	1	2435	1	FBXO10	9	37541291	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1730031	37541291	103672140	449	688										
ALDH1B1	219	broad.mit.edu	37	chr9	38396013	38396013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgggaagccttccgcctgGggtccccatggcgccggatg	15	16	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.chr9:38396013G>T	ENST00000377698.3	+	2	421	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	90					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)		CTTCCGCCTGGGGTCCCCATG	0.667																																						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.(268-270)Ggg>Tgg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						60	66	64					9																	38396013		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396013G>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.268G>T	9.37:g.38396013G>T	ENSP00000366927:p.Gly90Trp		Somatic					p.G90W	NM_000692.4	NP_000683.3	WXS	Illumina GAIIx	Phase_I	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	421	+			90					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.268G>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199794	0.79015	.	.	ENSG00000137124	ENST00000377698	T	0.17054	2.3	5.61	5.61	0.85477	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000007	T	0.44435	0.1293	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35919	-0.9769	10	0.87932	D	0	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	90	P30837	AL1B1_HUMAN	W	90	ENSP00000366927:G90W	ENSP00000366927:G90W	G	+	1	0	ALDH1B1	38386013	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.219000	0.78000	2.650000	0.89964	0.655000	0.94253	GGG		0.667	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			5	143	5	143	---	---	---	---	T	38396013	G	T	38396013	3	4	9	1	0	0	0	0	1	0	0	0	493	1232	43	1	270	1	ALDH1B1	9	38396013	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	854722	38396013	102817418	450	689										
ZNF658	26149	broad.mit.edu	37	chr9	40773146	40773146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacattcatagggtttctccCccgtgtgaattctctgatgt	8	10	3	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.chr9:40773146C>A	ENST00000602553.1	-	5	2423	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	710					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)		GGGTTTCTCCCCCGTGTGAAT	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.(2128-2130)gGg>gTg		zinc finger protein 658							172	188	183					9																	40773146		2201	4297	6498	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773146C>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.2129G>T	9.37:g.40773146C>A	ENSP00000473484:p.Gly710Val		Somatic				ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron	p.G710V			WXS	Illumina GAIIx	Phase_I	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2423	-			710					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2129G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	14.43	2.531984	0.45073	.	.	ENSG00000196409	ENST00000377626	T	0.23552	1.9	1.87	0.947	0.19555	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44244	0.1284	M	0.75150	2.29	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.35101	-0.9802	9	0.87932	D	0	.	6.4827	0.22071	0.0:0.8306:0.0:0.1694	.	710	Q5TYW1	ZN658_HUMAN	V	710	ENSP00000366853:G710V	ENSP00000366853:G710V	G	-	2	0	ZNF658	40763146	0.001000	0.12720	0.440000	0.26846	0.935000	0.57460	0.321000	0.19558	0.357000	0.24183	0.518000	0.50308	GGG		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		12	854	12	854	---	---	---	---	A	40773146	C	A	40773146	3	1	9	1	0	0	0	0	1	0	0	0	18066	623	22	1	1054	1	ZNF658	9	40773146	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2377133	40773146	100440285	451	690										
APBA1	320	broad.mit.edu	37	chr9	72131016	72131016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggctctttgggctcgtcggGggtgtaaggcgaacggatgg	20	7	1	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.chr9:72131016G>T	ENST00000265381.4	-	2	1333	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	371	Pro-rich.				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						GGCTCGTCGGGGGTGTAAGGC	0.592																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1111-1113)Ccc>Acc		amyloid beta (A4) precursor protein-binding, family A, member 1							143	112	123					9																	72131016		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131016G>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.1111C>A	9.37:g.72131016G>T	ENSP00000265381:p.Pro371Thr		Somatic					p.P371T	NM_001163.3	NP_001154.2	WXS	Illumina GAIIx	Phase_I	Q02410	APBA1_HUMAN			2	1333	-			371			Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1111C>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850701	0.71719	.	.	ENSG00000107282	ENST00000265381	T	0.05786	3.39	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.50970	0.655	T	0.04825	-1.0924	10	0.48119	T	0.1	-16.9961	17.052	0.86521	0.0:0.1271:0.8729:0.0	.	371	Q02410	APBA1_HUMAN	T	371	ENSP00000265381:P371T	ENSP00000265381:P371T	P	-	1	0	APBA1	71320836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.474000	0.48178	0.655000	0.94253	CCC		0.592	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		5	163	5	163	---	---	---	---	T	72131016	G	T	72131016	3	4	9	1	0	0	0	0	1	0	0	0	756	1232	43	1	1450	1	APBA1	9	72131016	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	31357870	72131016	69082415	452	691										
TRPM6	140803	broad.mit.edu	37	chr9	77365581	77365581	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacatttagaaatactcacaGggagttcctattgaggttgg	10	6	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.chr9:77365581G>T	ENST00000360774.1	-	30	5293	c.5056C>A	c.(5056-5058)Ctg>Atg	p.L1686M	TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000451710.3_Splice_Site_p.L1686I|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1686					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.L1686L(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						AATACTCACAGGGAGTTCCTA	0.393																																						ENST00000451710.3																			1	Substitution - coding silent(1)	p.L1686L(1)	endometrium(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.(5056-5058)Ctc>Atc		transient receptor potential cation channel, subfamily M, member 6							101	102	102					9																	77365581		2203	4300	6503	SO:0001630	splice_region_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77365581G>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.5057+1C>A	9.37:g.77365581G>T			Somatic				TRPM6_ENST00000360774.1_Splice_Site_p.L1686M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I	p.L1686I			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			30	5293	-			1686					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	c.5056C>A	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.465295|2.465295	0.43839|0.43839	.|.	.|.	ENSG00000119121|ENSG00000119121	ENST00000451710;ENST00000376872;ENST00000376871;ENST00000376864|ENST00000360774;ENST00000449912;ENST00000361255	T;T;T;T|T;T;T	0.63096|0.53423	0.63;-0.02;-0.02;0.54|0.62;0.62;0.62	5.7|5.7	1.6|1.6	0.23607|0.23607	.|.	1.393450|1.393450	0.04670|0.04670	N|N	0.410517|0.410517	T|T	0.41511|0.41511	0.1162|0.1162	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;D;P;P;P	.|0.64830	.|0.006;0.994;0.641;0.755;0.755	.|B;P;B;B;P	.|0.62560	.|0.006;0.904;0.293;0.386;0.487	T|T	0.37911|0.37911	-0.9685|-0.9685	8|10	0.27082|0.46703	T|T	0.32|0.11	.|.	1.449|1.449	0.02371|0.02371	0.22:0.157:0.4613:0.1618|0.22:0.157:0.4613:0.1618	.|.	.|519;637;1686;1681;1681	.|Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.|.;.;TRPM6_HUMAN;.;.	I|M	1686;637;519;1686|1686;1681;1681	ENSP00000407341:L1686I;ENSP00000366068:L637I;ENSP00000366067:L519I;ENSP00000366060:L1686I|ENSP00000354006:L1686M;ENSP00000396672:L1681M;ENSP00000354962:L1681M	ENSP00000366060:L1686I|ENSP00000354006:L1686M	L|L	-|-	1|1	0|2	TRPM6|TRPM6	76555401|76555401	0.111000|0.111000	0.22076|0.22076	0.160000|0.160000	0.22671|0.22671	0.614000|0.614000	0.37383|0.37383	1.085000|1.085000	0.30840|0.30840	0.743000|0.743000	0.32719|0.32719	-0.157000|-0.157000	0.13467|0.13467	CTC|CTG		0.393	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Missense_Mutation	5	139	5	139	---	---	---	---	T	77365581	G	T	77365581	5	4	9	1	0	0	0	0	0	0	1	0	16587	1014	35	1	1052	1	TRPM6	9	77365581	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5234565	77365581	63847850	453	692										
FRMD3	257019	broad.mit.edu	37	chr9	85925435	85925435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcacataaaatgtcttccCttcaaacttcaatttgcaga	3	10	4	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.chr9:85925435C>A	ENST00000304195.3	-	9	1008	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.G164W(1)|p.G268W(1)		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						AATGTCTTCCCTTCAAACTTC	0.408																																						ENST00000304195.3																			2	Substitution - Missense(2)	p.G164W(1)|p.G268W(1)	lung(2)	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.(802-804)Ggg>Tgg		FERM domain containing 3							220	213	215					9																	85925435		1838	4096	5934	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85925435C>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.802G>T	9.37:g.85925435C>A	ENSP00000303508:p.Gly268Trp		Somatic				FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W	p.G268W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	WXS	Illumina GAIIx	Phase_I	A2A2Y4	FRMD3_HUMAN			9	1008	-			268			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.802G>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568146	0.86439	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.55	5.55	0.83447	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	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	0.91839	0.5482	10	0.72032	D	0.01	.	19.4867	0.95032	0.0:1.0:0.0:0.0	.	268;268	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	W	268;74;268;37;164	ENSP00000365621:G268W;ENSP00000365617:G74W;ENSP00000303508:G268W;ENSP00000412719:G37W	ENSP00000303508:G268W	G	-	1	0	FRMD3	85115255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.283000	0.78640	2.768000	0.95171	0.655000	0.94253	GGG		0.408	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		8	526	8	526	---	---	---	---	A	85925435	C	A	85925435	3	1	9	1	0	0	0	0	1	0	0	0	6050	681	24	1	1015	1	FRMD3	9	85925435	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8559854	85925435	55287996	454	693										
KIF27	55582	broad.mit.edu	37	chr9	86506251	86506251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggatataaatataatgccCcaaatgagtatcaaatggta	8	5	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.chr9:86506251C>A	ENST00000297814.2	-	6	1911	c.1768G>T	c.(1768-1770)Ggg>Tgg	p.G590W	KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000376347.1_5'Flank|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	590					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						ATATAATGCCCCAAATGAGTA	0.378																																						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.(1768-1770)Ggg>Tgg		kinesin family member 27							107	110	109					9																	86506251		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86506251C>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.1768G>T	9.37:g.86506251C>A	ENSP00000297814:p.Gly590Trp		Somatic				KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W	p.G590W	NM_017576.1	NP_060046.1	WXS	Illumina GAIIx	Phase_I	Q86VH2	KIF27_HUMAN			6	1911	-			590					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1768G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257815	0.39896	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.56776	0.44;0.44;0.44	4.54	1.66	0.24008	.	0.639624	0.14234	N	0.332508	T	0.60025	0.2237	L	0.51422	1.61	0.25530	N	0.987282	D;D;D	0.89917	0.969;1.0;0.998	P;D;P	0.67548	0.639;0.952;0.818	T	0.48387	-0.9040	10	0.72032	D	0.01	.	5.7649	0.18221	0.0:0.5234:0.3024:0.1743	.	590;590;590	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	590	ENSP00000297814:G590W;ENSP00000401688:G590W;ENSP00000333928:G590W	ENSP00000297814:G590W	G	-	1	0	KIF27	85696071	0.984000	0.35163	0.902000	0.35471	0.812000	0.45895	1.237000	0.32695	0.166000	0.19597	-0.181000	0.13052	GGG		0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		6	281	6	281	---	---	---	---	A	86506251	C	A	86506251	3	1	9	1	0	0	0	0	1	0	0	0	8296	623	22	1	2489	1	KIF27	9	86506251	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	580816	86506251	54707180	455	694										
ZCCHC6	79670	broad.mit.edu	37	chr9	88938005	88938005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagatagggcgtcctcatccCctgacccagtgtaggtgttg	12	12	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.chr9:88938005C>A	ENST00000375963.3	-	13	2832	c.2660G>T	c.(2659-2661)gGg>gTg	p.G887V	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.G176V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	887	Glu-rich.				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						GTCCTCATCCCCTGACCCAGT	0.463																																						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.(526-528)gGg>gTg		zinc finger, CCHC domain containing 6							214	175	189					9																	88938005		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938005C>A	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.2660G>T	9.37:g.88938005C>A	ENSP00000365130:p.Gly887Val		Somatic				ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G887V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V	p.G176V			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			14	2951	-			887					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.527G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120728	0.77436	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.56941	0.43;0.8;0.85;0.87	5.48	5.48	0.80851	.	0.296900	0.37483	N	0.002069	T	0.54679	0.1873	L	0.27053	0.805	0.52501	D	0.999958	D;D	0.58620	0.983;0.972	P;P	0.57502	0.822;0.669	T	0.52487	-0.8569	10	0.45353	T	0.12	-40.5881	14.3995	0.67034	0.1474:0.8526:0.0:0.0	.	764;887	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	176;764;887;887	ENSP00000277141:G176V;ENSP00000365127:G764V;ENSP00000365128:G887V;ENSP00000365130:G887V	ENSP00000277141:G176V	G	-	2	0	ZCCHC6	88127825	0.991000	0.36638	1.000000	0.80357	0.933000	0.57130	2.884000	0.48562	2.861000	0.98227	0.650000	0.86243	GGG		0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		7	293	7	293	---	---	---	---	A	88938005	C	A	88938005	3	1	9	1	0	0	0	0	1	0	0	0	17589	623	22	1	1887	1	ZCCHC6	9	88938005	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2431754	88938005	52275426	456	695										
ZCCHC6	79670	broad.mit.edu	37	chr9	88960033	88960033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatctgggagggtgttggtgGgggtaacgtagtgagcaact	18	4	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.chr9:88960033G>T	ENST00000375963.3	-	5	1028	c.856C>A	c.(856-858)Cca>Aca	p.P286T	ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	286					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						GGTGTTGGTGGGGGTAACGTA	0.413																																						ENST00000375961.2																			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.(856-858)Cca>Aca		zinc finger, CCHC domain containing 6							164	144	150					9																	88960033		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88960033G>T	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.856C>A	9.37:g.88960033G>T	ENSP00000365130:p.Pro286Thr		Somatic				ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T	p.P286T			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			5	1070	-			286					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.856C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124833	0.94429	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.979;0.979;1.0;1.0	P;P;D;D	0.97110	0.823;0.885;1.0;0.999	T	0.63175	-0.6696	10	0.46703	T	0.11	-8.2383	19.7181	0.96131	0.0:0.0:1.0:0.0	.	286;286;286;286	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	T	286;286;286;119;119	ENSP00000365127:P286T;ENSP00000365128:P286T;ENSP00000365130:P286T;ENSP00000365114:P119T	ENSP00000365114:P119T	P	-	1	0	ZCCHC6	88149853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.151000	0.77411	2.662000	0.90505	0.591000	0.81541	CCA		0.413	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		7	286	7	286	---	---	---	---	T	88960033	G	T	88960033	3	4	9	1	0	0	0	0	1	0	0	0	17589	1232	43	1	3723	1	ZCCHC6	9	88960033	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	22028	88960033	52253398	457	696										
SECISBP2	79048	broad.mit.edu	37	chr9	91972384	91972384	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctgtgagcagaacattccCtttgtgtttgctctcaaccg	9	12	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.chr9:91972384C>A	ENST00000375807.3	+	15	2243	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SECISBP2_ENST00000534113.2_Silent_p.P656P|SECISBP2_ENST00000339901.4_Silent_p.P651P	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	724					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						AGAACATTCCCTTTGTGTTTG	0.483																																						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.(2170-2172)ccC>ccA		SECIS binding protein 2							271	248	256					9																	91972384		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972384C>A	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.2172C>A	9.37:g.91972384C>A			Somatic				SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P	p.P724P	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	WXS	Illumina GAIIx	Phase_I	Q96T21	SEBP2_HUMAN			15	2243	+			724					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.2172C>A	CCDS6683.1																																																																																				0.483	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		7	485	7	485	---	---	---	---	A	91972384	C	A	91972384	2	1	9	1	0	0	0	0	0	0	0	1	14006	668	24	1		1	SECISBP2	9	91972384	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3012351	91972384	49241047	458	697										
ASPN	54829	broad.mit.edu	37	chr9	95227269	95227269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtcaccccttcaaatgccCctggctctatcccattatta	4	17	3	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.chr9:95227269C>A	ENST00000375544.3	-	5	887	c.644G>T	c.(643-645)gGg>gTg	p.G215V	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|ASPN_ENST00000395538.3_Missense_Mutation_p.G215V	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	215					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						TTCAAATGCCCCTGGCTCTAT	0.398																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(643-645)gGg>gTg		asporin							153	148	150					9																	95227269		2203	4300	6503	SO:0001583	missense	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.chr9:95227269C>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.644G>T	9.37:g.95227269C>A	ENSP00000364694:p.Gly215Val		Somatic				ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron	p.G215V	NM_017680.4	NP_060150	WXS	Illumina GAIIx	Phase_I	Q9BXN1	ASPN_HUMAN			5	887	-			215					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.644G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.274517	0.80580	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.42	0.53409	.	0.049216	0.85682	D	0.000000	T	0.79499	0.4456	M	0.90814	3.15	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.67231	0.891;0.95	D	0.84308	0.0509	10	0.87932	D	0	.	16.7886	0.85580	0.0:0.8716:0.1284:0.0	.	215;215	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	V	215	ENSP00000364694:G215V;ENSP00000364693:G215V;ENSP00000378909:G215V	ENSP00000364693:G215V	G	-	2	0	ASPN	94267090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.776000	0.55356	2.692000	0.91855	0.655000	0.94253	GGG		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		6	345	6	345	---	---	---	---	A	95227269	C	A	95227269	3	1	9	1	0	0	0	0	1	0	0	0	1057	623	22	1	514	1	ASPN	9	95227269	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3254885	95227269	45986162	459	698										
ECM2	1842	broad.mit.edu	37	chr9	95277239	95277239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctcctcctctgctgtccCcctcactgtaaagttgcccc	6	18	3	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.chr9:95277239C>A	ENST00000344604.5	-	4	877	c.728G>T	c.(727-729)gGg>gTg	p.G243V	ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|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	243					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						TCTGCTGTCCCCCTCACTGTA	0.527																																						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.(727-729)gGg>gTg		extracellular matrix protein 2, female organ and adipocyte specific							220	227	225					9																	95277239		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277239C>A	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.728G>T	9.37:g.95277239C>A	ENSP00000344758:p.Gly243Val		Somatic				ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|CENPP_ENST00000375587.3_Intron	p.G243V	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	WXS	Illumina GAIIx	Phase_I	O94769	ECM2_HUMAN			4	877	-			243					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.728G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873210	0.33069	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.49139	0.8;0.79	4.9	-4.96	0.03038	.	0.835174	0.10796	N	0.633174	T	0.32041	0.0816	L	0.38531	1.155	0.09310	N	1	B;B;B	0.30439	0.112;0.112;0.279	B;B;B	0.31101	0.058;0.058;0.124	T	0.20571	-1.0271	10	0.42905	T	0.14	.	8.4745	0.33005	0.0:0.2563:0.1078:0.636	.	243;221;221	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	V	221;243	ENSP00000393971:G221V;ENSP00000344758:G243V	ENSP00000344758:G243V	G	-	2	0	ECM2	94317060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.937000	0.03942	-1.098000	0.03038	-0.181000	0.13052	GGG		0.527	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		10	676	10	676	---	---	---	---	A	95277239	C	A	95277239	3	1	9	1	0	0	0	0	1	0	0	0	4898	623	22	1	1399	1	ECM2	9	95277239	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	49970	95277239	45936192	460	699										
ECM2	1842	broad.mit.edu	37	chr9	95277276	95277276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccctgatttctagattcagGggtctctctcttttgctctg	8	12	5	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.chr9:95277276G>T	ENST00000344604.5	-	4	840	c.691C>A	c.(691-693)Cct>Act	p.P231T	ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|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	231					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						CTAGATTCAGGGGTCTCTCTC	0.498																																						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.(691-693)Cct>Act		extracellular matrix protein 2, female organ and adipocyte specific							194	207	203					9																	95277276		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277276G>T	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.691C>A	9.37:g.95277276G>T	ENSP00000344758:p.Pro231Thr		Somatic				ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|CENPP_ENST00000375587.3_Intron	p.P231T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	WXS	Illumina GAIIx	Phase_I	O94769	ECM2_HUMAN			4	840	-			231					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.691C>A	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305798	0.23736	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.46819	0.86;0.87	4.72	-9.44	0.00603	.	2.410520	0.01383	N	0.013008	T	0.13157	0.0319	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.22003	0.012;0.012;0.063	B;B;B	0.21917	0.003;0.003;0.037	T	0.24297	-1.0164	10	0.33940	T	0.23	.	3.6731	0.08281	0.2692:0.4549:0.1153:0.1606	.	231;209;209	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	209;231	ENSP00000393971:P209T;ENSP00000344758:P231T	ENSP00000344758:P231T	P	-	1	0	ECM2	94317097	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.118000	0.01325	-1.589000	0.01625	0.650000	0.86243	CCT		0.498	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		8	578	8	578	---	---	---	---	T	95277276	G	T	95277276	3	4	9	1	0	0	0	0	1	0	0	0	4898	1232	43	1	1436	1	ECM2	9	95277276	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	37	95277276	45936155	461	700										
KLF4	9314	broad.mit.edu	37	chr9	110248118	110248118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcactggaacgggcggtgccCcgtgtgtttacggtagtgcc	16	11	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.chr9:110248118C>A	ENST00000374672.4	-	5	1827	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	486					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						GGGCGGTGCCCCGTGTGTTTA	0.532																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1354-1356)Ggg>Tgg		Kruppel-like factor 4 (gut)							120	115	117					9																	110248118		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.chr9:110248118C>A	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.1354G>T	9.37:g.110248118C>A	ENSP00000363804:p.Gly452Trp		Somatic					p.G452W	NM_004235.4	NP_004226.3	WXS	Illumina GAIIx	Phase_I	O43474	KLF4_HUMAN			5	1827	-			486					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1354G>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209953	0.58343	.	.	ENSG00000136826	ENST00000374672	T	0.26810	1.71	5.82	5.82	0.92795	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40222	N	0.001146	T	0.69672	0.3137	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	T	0.81335	-0.0979	10	0.87932	D	0	.	19.719	0.96135	0.0:1.0:0.0:0.0	.	486;452	O43474;O43474-1	KLF4_HUMAN;.	W	452	ENSP00000363804:G452W	ENSP00000363804:G452W	G	-	1	0	KLF4	109287939	1.000000	0.71417	0.987000	0.45799	0.166000	0.22503	7.818000	0.86416	2.756000	0.94617	0.563000	0.77884	GGG		0.532	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		6	233	6	233	---	---	---	---	A	110248118	C	A	110248118	3	1	9	1	0	0	0	0	1	0	0	0	8348	623	22	1	89	1	KLF4	9	110248118	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	14970842	110248118	30965313	462	701										
ACTL7A	10881	broad.mit.edu	37	chr9	111625668	111625668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctcaaacgggacctcatgGggaacatcctgctctgcggg	12	14	3	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.chr9:111625668G>T	ENST00000333999.3	+	1	1066	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	356						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACCTCATGGGGAACATCCT	0.577																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1066-1068)Ggg>Tgg		actin-like 7A							129	114	119					9																	111625668		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625668G>T	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1066G>T	9.37:g.111625668G>T	ENSP00000334300:p.Gly356Trp		Somatic					p.G356W	NM_006687.2	NP_006678.1	WXS	Illumina GAIIx	Phase_I	Q9Y615	ACL7A_HUMAN			1	1066	+			356					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.1066G>T	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466572	0.63625	.	.	ENSG00000187003	ENST00000333999	T	0.33438	1.41	5.65	4.53	0.55603	.	0.347490	0.22094	N	0.064708	T	0.55593	0.1930	M	0.86178	2.8	0.42436	D	0.992694	D	0.76494	0.999	D	0.70487	0.969	T	0.60177	-0.7314	10	0.87932	D	0	.	9.877	0.41209	0.1266:0.0:0.8734:0.0	.	356	Q9Y615	ACL7A_HUMAN	W	356	ENSP00000334300:G356W	ENSP00000334300:G356W	G	+	1	0	ACTL7A	110665489	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.338000	0.52128	2.824000	0.97209	0.655000	0.94253	GGG		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		5	170	5	170	---	---	---	---	T	111625668	G	T	111625668	3	4	9	1	0	0	0	0	1	0	0	0	200	1232	43	1	1068	1	ACTL7A	9	111625668	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1377550	111625668	29587763	463	702										
AKAP2	11217	broad.mit.edu	37	chr9	112898575	112898575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcctggaatcacctctaccCcacatcccatggaccatccc	4	19	2	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.chr9:112898575C>A	ENST00000259318.7	+	2	265	c.58C>A	c.(58-60)Cca>Aca	p.P20T	AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P251T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	20										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CACCTCTACCCCACATCCCAT	0.498																																						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.(751-753)Cca>Aca									186	171	176					9																	112898575		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898575C>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.58C>A	9.37:g.112898575C>A	ENSP00000259318:p.Pro20Thr		Somatic				AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000259318.7_Missense_Mutation_p.P20T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T	p.P251T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			8	931	+			20					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.751C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903884	0.33628	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.17;2.17;2.17;2.17;1.41;0.83;0.84;1.54	6.03	1.69	0.24217	.	0.256481	0.31809	N	0.007037	T	0.45276	0.1334	L	0.54323	1.7	0.18873	N	0.999989	B;B;P;B;B;B;B;P	0.46706	0.002;0.016;0.883;0.016;0.01;0.328;0.161;0.546	B;B;P;B;B;B;B;B	0.46629	0.005;0.018;0.522;0.018;0.008;0.154;0.154;0.133	T	0.36138	-0.9760	10	0.62326	D	0.03	-4.1394	8.6018	0.33749	0.0:0.6231:0.0:0.3769	.	20;109;103;109;110;251;251;69	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	251;251;251;251;109;109;69;20	ENSP00000363654:P251T;ENSP00000305861:P251T;ENSP00000451476:P251T;ENSP00000421522:P251T;ENSP00000404782:P109T;ENSP00000363649:P109T;ENSP00000419268:P69T;ENSP00000259318:P20T	ENSP00000259318:P20T	P	+	1	0	PALM2-AKAP2;AKAP2	111938396	0.001000	0.12720	0.057000	0.19452	0.701000	0.40568	-0.314000	0.08092	0.441000	0.26529	0.655000	0.94253	CCA		0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		7	350	7	350	---	---	---	---	A	112898575	C	A	112898575	3	1	9	1	0	0	0	0	1	0	0	0	451	623	22	1	331	1	AKAP2	9	112898575	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1272907	112898575	28314856	464	703										
AKAP2	11217	broad.mit.edu	37	chr9	112898615	112898615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccgctttctattcaccccCgcataatggcctccttactg	5	17	2	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.chr9:112898615C>A	ENST00000259318.7	+	2	305	c.98C>A	c.(97-99)cCg>cAg	p.P33Q	AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P264Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	33										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TATTCACCCCCGCATAATGGC	0.488																																						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.(790-792)cCg>cAg									176	160	165					9																	112898615		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898615C>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.98C>A	9.37:g.112898615C>A	ENSP00000259318:p.Pro33Gln		Somatic				AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.P33Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q	p.P264Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			8	971	+			33					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.791C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660873	0.47572	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.45668	2.24;2.24;2.24;2.24;1.48;0.89;0.9;1.51	5.85	4.89	0.63831	.	0.428594	0.20275	N	0.095571	T	0.48804	0.1520	L	0.51422	1.61	0.21740	N	0.999562	P;D;P;D;D;P;P;P	0.56746	0.865;0.977;0.95;0.977;0.961;0.897;0.897;0.834	B;P;P;P;P;B;B;B	0.55391	0.416;0.775;0.52;0.775;0.601;0.417;0.417;0.339	T	0.42224	-0.9464	10	0.59425	D	0.04	-7.7526	9.4025	0.38442	0.0:0.78:0.1453:0.0747	.	33;122;116;122;123;264;264;82	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	264;264;264;264;122;122;82;33	ENSP00000363654:P264Q;ENSP00000305861:P264Q;ENSP00000451476:P264Q;ENSP00000421522:P264Q;ENSP00000404782:P122Q;ENSP00000363649:P122Q;ENSP00000419268:P82Q;ENSP00000259318:P33Q	ENSP00000259318:P33Q	P	+	2	0	PALM2-AKAP2;AKAP2	111938436	0.961000	0.32948	0.967000	0.41034	0.065000	0.16274	1.445000	0.35079	2.941000	0.99782	0.655000	0.94253	CCG		0.488	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	340	5	340	---	---	---	---	A	112898615	C	A	112898615	3	1	9	1	0	0	0	0	1	0	0	0	451	652	23	1	371	1	AKAP2	9	112898615	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	40	112898615	28314816	465	704										
PAPPA	5069	broad.mit.edu	37	chr9	118949849	118949849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatggaaacccatggcgccCacactgctctacctcagctc	7	17	2	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.chr9:118949849C>A	ENST00000328252.3	+	2	1201	c.832C>A	c.(832-834)Cac>Aac	p.H278N	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	278	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						CCATGGCGCCCACACTGCTCT	0.567																																						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.(832-834)Cac>Aac		pregnancy-associated plasma protein A, pappalysin 1							109	101	104					9																	118949849		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949849C>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.832C>A	9.37:g.118949849C>A	ENSP00000330658:p.His278Asn		Somatic					p.H278N	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			2	1201	+			278			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.832C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	1.915	-0.449806	0.04572	.	.	ENSG00000182752	ENST00000328252	T	0.01705	4.68	6.07	2.08	0.27032	.	0.580030	0.21446	N	0.074402	T	0.01029	0.0034	N	0.16478	0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48445	-0.9035	10	0.16896	T	0.51	-12.9003	1.4799	0.02434	0.2198:0.4073:0.2074:0.1655	.	278	Q13219	PAPP1_HUMAN	N	278	ENSP00000330658:H278N	ENSP00000330658:H278N	H	+	1	0	PAPPA	117989670	0.250000	0.23951	0.957000	0.39632	0.542000	0.35054	1.829000	0.39121	0.901000	0.36495	0.655000	0.94253	CAC		0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	170	6	170	---	---	---	---	A	118949849	C	A	118949849	3	1	9	1	0	0	0	0	1	0	0	0	11432	594	21	1	838	1	PAPPA	9	118949849	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6051234	118949849	22263582	466	705										
PAPPA	5069	broad.mit.edu	37	chr9	118974050	118974050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatccagtcctgcagtgaccCctgcatggagacagagccct	10	14	0	3	rs146832580		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.chr9:118974050C>A	ENST00000328252.3	+	4	2126	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	586					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						TGCAGTGACCCCTGCATGGAG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		19613	0		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.(1756-1758)cCc>cAc		pregnancy-associated plasma protein A, pappalysin 1							149	130	136					9																	118974050		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118974050C>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.1757C>A	9.37:g.118974050C>A	ENSP00000330658:p.Pro586His		Somatic				PAPPA_ENST00000534838.1_Intron	p.P586H	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			4	2126	+			586					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1757C>A	CCDS6813.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	28.0	4.879248	0.91740	.	.	ENSG00000182752	ENST00000328252	T	0.02140	4.43	5.64	5.64	0.86602	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.046925	0.85682	D	0.000000	T	0.16599	0.0399	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00060	-1.2163	10	0.87932	D	0	-23.9436	20.0666	0.97706	0.0:1.0:0.0:0.0	.	586	Q13219	PAPP1_HUMAN	H	586	ENSP00000330658:P586H	ENSP00000330658:P586H	P	+	2	0	PAPPA	118013871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.791000	0.62460	2.826000	0.97356	0.561000	0.74099	CCC		0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	251	6	251	---	---	---	---	A	118974050	C	A	118974050	3	1	9	1	0	0	0	0	1	0	0	0	11432	623	22	1	1771	1	PAPPA	9	118974050	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	24201	118974050	22239381	467	706										
OR1J2	26740	broad.mit.edu	37	chr9	125273777	125273777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagggtcccttcaaccaaaGggatccacaaagcattgtcc	9	12	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.chr9:125273777G>T	ENST00000335302.5	+	1	697	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	233						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(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCAACCAAAGGGATCCACAA	0.498																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(697-699)Ggg>Tgg		olfactory receptor, family 1, subfamily J, member 2							178	144	156					9																	125273777		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273777G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.697G>T	9.37:g.125273777G>T	ENSP00000335575:p.Gly233Trp		Somatic					p.G233W	NM_054107.1	NP_473448.1	WXS	Illumina GAIIx	Phase_I	Q8NGS2	OR1J2_HUMAN			1	697	+			233					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.697G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351349	0.41700	.	.	ENSG00000197233	ENST00000335302	T	0.00304	8.19	4.9	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	0.626201	0.13259	U	0.401388	T	0.00936	0.0031	H	0.97077	3.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14896	-1.0456	10	0.87932	D	0	.	10.0428	0.42169	0.4502:0.0:0.5498:0.0	.	233	Q8NGS2	OR1J2_HUMAN	W	233	ENSP00000335575:G233W	ENSP00000335575:G233W	G	+	1	0	OR1J2	124313598	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-0.168000	0.10853	-0.157000	0.13467	GGG		0.498	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			6	224	6	224	---	---	---	---	T	125273777	G	T	125273777	3	4	9	1	0	0	0	0	1	0	0	0	10960	1000	35	1	699	1	OR1J2	9	125273777	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6299727	125273777	15939654	468	707										
OR1N2	138882	broad.mit.edu	37	chr9	125316129	125316129	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgctgttcctcactgttccCctcctgctgatcgtcttctc	6	16	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.chr9:125316129C>A	ENST00000373688.2	+	1	739	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, 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)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTGTTCCCCTCCTGCTGA	0.507																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(679-681)ccC>ccA		olfactory receptor, family 1, subfamily N, member 2							272	251	258					9																	125316129		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316129C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.681C>A	9.37:g.125316129C>A			Somatic					p.P227P	NM_001004457.1	NP_001004457.1	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			1	739	+			227					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.681C>A	CCDS35123.1																																																																																				0.507	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			7	345	7	345	---	---	---	---	A	125316129	C	A	125316129	2	1	9	1	0	0	0	0	0	0	0	1	10970	610	22	1		1	OR1N2	9	125316129	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	42352	125316129	15897302	469	708										
RC3H2	54542	broad.mit.edu	37	chr9	125622392	125622392	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acattacttacaggagtcttGggtggagaaccaattttact	9	7	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.chr9:125622392G>T	ENST00000373670.1	-	10	2253	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	RC3H2_ENST00000357244.2_Silent_p.P551P|RC3H2_ENST00000423239.2_Silent_p.P551P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	551					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						CAGGAGTCTTGGGTGGAGAAC	0.393																																						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.(1651-1653)ccC>ccA		ring finger and CCCH-type domains 2							116	117	117					9																	125622392		1847	4099	5946	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125622392G>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.1653C>A	9.37:g.125622392G>T			Somatic				RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P	p.P551P			WXS	Illumina GAIIx	Phase_I	Q9HBD1	RC3H2_HUMAN			10	2253	-			551					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.1653C>A	CCDS43874.1																																																																																				0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		6	295	6	295	---	---	---	---	T	125622392	G	T	125622392	2	4	9	1	0	0	0	0	0	0	0	1	13167	1335	47	1		1	RC3H2	9	125622392	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	306263	125622392	15591039	470	709										
RABGAP1	23637	broad.mit.edu	37	chr9	125760997	125760997	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgaaagattattctggccCttcagcaaacgtagtactac	7	9	2	2	rs376557437		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.chr9:125760997C>A	ENST00000373647.4	+	10	1460	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	442					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						TATTCTGGCCCTTCAGCAAAC	0.373																																						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.(1324-1326)ccC>ccA		RAB GTPase activating protein 1							92	94	94					9																	125760997		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125760997C>A	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.1326C>A	9.37:g.125760997C>A			Somatic					p.P442P	NM_012197.3	NP_036329.3	WXS	Illumina GAIIx	Phase_I	Q9Y3P9	RBGP1_HUMAN			10	1460	+			442					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.1326C>A	CCDS6848.2																																																																																				0.373	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		6	264	6	264	---	---	---	---	A	125760997	C	A	125760997	2	1	9	1	0	0	0	0	0	0	0	1	12964	668	24	1		1	RABGAP1	9	125760997	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	138605	125760997	15452434	471	710										
GOLGA1	2800	broad.mit.edu	37	chr9	127652687	127652687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgttgctggaactcttccCtttgcttccgcacctcctcc	6	18	1	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.chr9:127652687C>A	ENST00000373555.4	-	16	1811	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	493	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAACTCTTCCCTTTGCTTCCG	0.582																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1477-1479)aGg>aTg		golgin A1							220	146	171					9																	127652687		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127652687C>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1478G>T	9.37:g.127652687C>A	ENSP00000362656:p.Arg493Met		Somatic					p.R493M	NM_002077.3	NP_002068	WXS	Illumina GAIIx	Phase_I	Q92805	GOGA1_HUMAN			16	1811	-			493			Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1478G>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771144	0.69992	.	.	ENSG00000136935	ENST00000373555	T	0.26957	1.7	5.24	3.37	0.38596	.	0.125962	0.35067	N	0.003466	T	0.26955	0.0660	L	0.56769	1.78	0.34248	D	0.678417	P	0.52842	0.956	P	0.46975	0.533	T	0.40001	-0.9586	10	0.41790	T	0.15	-2.5509	6.4287	0.21784	0.0:0.7279:0.0:0.2721	.	493	Q92805	GOGA1_HUMAN	M	493	ENSP00000362656:R493M	ENSP00000362656:R493M	R	-	2	0	GOLGA1	126692508	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	0.788000	0.26872	1.188000	0.43014	0.551000	0.68910	AGG		0.582	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		7	145	7	145	---	---	---	---	A	127652687	C	A	127652687	3	1	9	1	0	0	0	0	1	0	0	0	6551	681	24	1	857	1	GOLGA1	9	127652687	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1891690	127652687	13560744	472	711										
RALGPS1	9649	broad.mit.edu	37	chr9	129930977	129930977	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcacctcaccaccctgccCcatgtgcagaagtacctgaa	7	16	2	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.chr9:129930977C>A	ENST00000259351.5	+	10	1035	c.768C>A	c.(766-768)ccC>ccA	p.P256P	RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	256	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)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCACCCTGCCCCATGTGCAGA	0.478																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(766-768)ccC>ccA		Ral GEF with PH domain and SH3 binding motif 1							196	167	177					9																	129930977		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129930977C>A	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.768C>A	9.37:g.129930977C>A			Somatic				RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P	p.P256P	NM_014636.2	NP_055451.1	WXS	Illumina GAIIx	Phase_I	Q5JS13	RGPS1_HUMAN			10	1035	+			256			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.768C>A	CCDS35143.1																																																																																				0.478	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		6	280	6	280	---	---	---	---	A	129930977	C	A	129930977	2	1	9	1	0	0	0	0	0	0	0	1	13017	610	22	1		1	RALGPS1	9	129930977	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2278290	129930977	11282454	473	712										
NUP214	8021	broad.mit.edu	37	chr9	134090730	134090730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccattcagctcggccagtggGggctttggatccacagctac	12	13	1	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.chr9:134090730G>T	ENST00000359428.5	+	31	5868	c.5724G>T	c.(5722-5724)ggG>ggT	p.G1908G	NUP214_ENST00000451030.1_Silent_p.G1909G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000411637.2_Silent_p.G1898G			P35658	NU214_HUMAN	nucleoporin 214kDa	1908	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)		CGGCCAGTGGGGGCTTTGGAT	0.507			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.(5722-5724)ggG>ggT		nucleoporin 214kDa							90	91	91					9																	134090730		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.chr9:134090730G>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.5724G>T	9.37:g.134090730G>T			Somatic				NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000451030.1_Silent_p.G1909G	p.G1908G			WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	31	5868	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1908			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.5724G>T	CCDS6940.1																																																																																				0.507	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	151	5	151	---	---	---	---	T	134090730	G	T	134090730	2	4	9	1	0	0	0	0	0	0	0	1	10762	1219	43	1		1	NUP214	9	134090730	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4159753	134090730	7122701	474	713										
CAMSAP1	157922	broad.mit.edu	37	chr9	138714837	138714837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgaggccctggggaactccGggtcagcctgctggggaacc	17	12	1	1	rs138818284		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.chr9:138714837G>T	ENST00000389532.4	-	11	1734	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	557					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)		GGGGAACTCCGGGTCAGCCTG	0.577																																						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.(1669-1671)cCg>cAg		calmodulin regulated spectrin-associated protein 1							143	155	151					9																	138714837		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714837G>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.1670C>A	9.37:g.138714837G>T	ENSP00000374183:p.Pro557Gln		Somatic				CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q	p.P557Q	NM_015447.3	NP_056262.3	WXS	Illumina GAIIx	Phase_I	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1734	-			557					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1670C>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	3.975	-0.007607	0.07773	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14022	2.56;2.54;2.55	5.05	-10.0	0.00425	.	1.247540	0.05739	N	0.600956	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B;P	0.40032	0.001;0.699	B;B	0.36504	0.001;0.226	T	0.19321	-1.0309	10	0.87932	D	0	-17.7837	1.9328	0.03331	0.4518:0.1381:0.2528:0.1572	.	557;568	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	557;279;568	ENSP00000374183:P557Q;ENSP00000312463:P279Q;ENSP00000386420:P568Q	ENSP00000312463:P279Q	P	-	2	0	CAMSAP1	137854658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.883000	0.04170	-2.940000	0.00297	-1.945000	0.00491	CCG		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		5	366	5	366	---	---	---	---	T	138714837	G	T	138714837	3	4	9	1	0	0	0	0	1	0	0	0	2611	1116	39	1	3166	1	CAMSAP1	9	138714837	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4624107	138714837	2498594	475	714										
SEC16A	9919	broad.mit.edu	37	chr9	139357510	139357510	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaatcaggtttgcttcattGggcgacttcccaggaagcca	10	11	3	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.chr9:139357510G>T	ENST00000371706.3	-	10	4221	c.4188C>A	c.(4186-4188)ccC>ccA	p.P1396P	SEC16A_ENST00000290037.6_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000313050.7_Silent_p.P1574P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1396					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)		TTGCTTCATTGGGCGACTTCC	0.552																																						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.(4720-4722)ccC>ccA		SEC16 homolog A (S. cerevisiae)							77	88	84					9																	139357510		2064	4191	6255	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139357510G>T	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.4188C>A	9.37:g.139357510G>T			Somatic				SEC16A_ENST00000371706.3_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P	p.P1574P	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	10	4795	-		Myeloproliferative disorder(178;0.0511)	1396					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4722C>A																																																																																					0.552	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		5	121	5	121	---	---	---	---	T	139357510	G	T	139357510	2	4	9	1	0	0	0	0	0	0	0	1	13986	1335	47	1		1	SEC16A	9	139357510	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	642673	139357510	1855921	476	715										
ENTPD8	377841	broad.mit.edu	37	chr9	140331457	140331457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgactgctgcaaagatgtccCtggcctgagagctgttcttc	11	11	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.chr9:140331457C>A	ENST00000472938.1	-	4	435	c.419G>T	c.(418-420)aGg>aTg	p.R140M	ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000371506.2_Missense_Mutation_p.R140M			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	140					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGATGTCCCTGGCCTGAGA	0.687																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(418-420)aGg>aTg		ectonucleoside triphosphate diphosphohydrolase 8							48	53	51					9																	140331457		2202	4298	6500	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331457C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.419G>T	9.37:g.140331457C>A	ENSP00000420531:p.Arg140Met		Somatic				ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000472938.1_Missense_Mutation_p.R140M	p.R140M	NM_001033113.1	NP_001028285.1	WXS	Illumina GAIIx	Phase_I	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	5	602	-	all_cancers(76;0.0926)		140					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.419G>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693852	0.48202	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.10960	2.82;2.82;2.82	4.07	-8.14	0.01069	.	3.532660	0.00714	N	0.000850	T	0.16811	0.0404	L	0.52573	1.65	0.09310	N	1	P;P	0.51240	0.943;0.848	P;P	0.53266	0.631;0.722	T	0.45877	-0.9231	10	0.54805	T	0.06	-0.0147	7.9091	0.29780	0.0:0.1461:0.2023:0.6517	.	140;140	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	M	140	ENSP00000344089:R140M;ENSP00000360561:R140M;ENSP00000420531:R140M	ENSP00000344089:R140M	R	-	2	0	ENTPD8	139451278	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-0.179000	0.09768	-2.271000	0.00683	-0.258000	0.10820	AGG		0.687	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	70	4	70	---	---	---	---	A	140331457	C	A	140331457	3	1	9	1	0	0	0	0	1	0	0	0	5145	681	24	1	1092	1	ENTPD8	9	140331457	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	973947	140331457	881974	477	716										
SFMBT2	57713	broad.mit.edu	37	chr10	7262401	7262401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagccacattagccgcccCttcacactcacaacggaggc	8	16	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.chr10:7262401C>A	ENST00000361972.4	-	11	1392	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	434					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						TTAGCCGCCCCTTCACACTCA	0.522																																						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.(1300-1302)aaG>aaT		Scm-like with four mbt domains 2							235	221	226					10																	7262401		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262401C>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.1302G>T	10.37:g.7262401C>A	ENSP00000355109:p.Lys434Asn		Somatic				SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	p.K434N	NM_001018039.1	NP_001018049.1	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			11	1392	-			434					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1302G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734704	0.48939	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.29917	1.55;1.55	5.4	2.52	0.30459	.	0.089021	0.85682	D	0.000000	T	0.38214	0.1032	M	0.68317	2.08	0.80722	D	1	P	0.47106	0.89	P	0.53490	0.727	T	0.11991	-1.0565	10	0.26408	T	0.33	.	6.0204	0.19626	0.0:0.4981:0.0:0.5019	.	434	Q5VUG0	SMBT2_HUMAN	N	434	ENSP00000355109:K434N;ENSP00000380353:K434N	ENSP00000355109:K434N	K	-	3	2	SFMBT2	7302407	1.000000	0.71417	0.996000	0.52242	0.570000	0.35934	1.872000	0.39549	0.639000	0.30564	0.563000	0.77884	AAG		0.522	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	237	7	237	---	---	---	---	A	7262401	C	A	7262401	3	1	9	1	0	0	0	0	1	0	0	0	14158	680	24	1	1426	1	SFMBT2	10	7262401	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		7262401	128272346	478	717										
DHTKD1	55526	broad.mit.edu	37	chr10	12155041	12155041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accactcattgttgcttcccCtaagatgttactcaggctcc	6	14	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.chr10:12155041C>A	ENST00000263035.4	+	13	2359	c.2297C>A	c.(2296-2298)cCt>cAt	p.P766H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	766					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)			GTTGCTTCCCCTAAGATGTTA	0.433																																						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.(2296-2298)cCt>cAt		dehydrogenase E1 and transketolase domain containing 1							120	110	114					10																	12155041		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12155041C>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.2297C>A	10.37:g.12155041C>A	ENSP00000263035:p.Pro766His		Somatic					p.P766H	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		13	2359	+		Renal(717;0.228)	766					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2297C>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452283	0.63290	.	.	ENSG00000181192	ENST00000263035	D	0.93019	-3.15	4.99	4.99	0.66335	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	-6.1775	18.2767	0.90085	0.0:1.0:0.0:0.0	.	766	Q96HY7	DHTK1_HUMAN	H	766	ENSP00000263035:P766H	ENSP00000263035:P766H	P	+	2	0	DHTKD1	12195047	1.000000	0.71417	0.736000	0.30914	0.215000	0.24574	7.384000	0.79751	2.322000	0.78497	0.655000	0.94253	CCT		0.433	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	129	4	129	---	---	---	---	A	12155041	C	A	12155041	3	1	9	1	0	0	0	0	1	0	0	0	4500	681	24	1	2347	1	DHTKD1	10	12155041	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4892640	12155041	123379706	479	718										
SEC61A2	55176	broad.mit.edu	37	chr10	12203061	12203061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttatatcatcttcatgttgGggtcatgtgcattcttctct	7	8	6	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.chr10:12203061G>T	ENST00000298428.9	+	10	1197	c.1108G>T	c.(1108-1110)Ggg>Tgg	p.G370W	SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379033.3_Missense_Mutation_p.G348W	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	370				G -> E (in Ref. 2; BAG63284). {ECO:0000305}.	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)			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)				CTTCATGTTGGGGTCATGTGC	0.423																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1042-1044)Ggg>Tgg		Sec61 alpha 2 subunit (S. cerevisiae)							205	159	175					10																	12203061		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12203061G>T	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.1108G>T	10.37:g.12203061G>T	ENSP00000298428:p.Gly370Trp		Somatic				SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G370W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W	p.G348W	NM_001142628.1	NP_001136100.1	WXS	Illumina GAIIx	Phase_I	Q9H9S3	S61A2_HUMAN			9	1189	+		Renal(717;0.228)	370					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.1042G>T	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804084	0.90623	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000003	D	0.85270	0.5658	M	0.93016	3.37	0.80722	D	1	P;D;P	0.58620	0.647;0.983;0.928	P;P;D	0.63192	0.819;0.908;0.912	D	0.86939	0.2078	9	0.48119	T	0.1	-7.4857	18.8446	0.92200	0.0:0.0:1.0:0.0	.	348;370;370	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	W	348;370;370;304;118	.	ENSP00000298428:G370W	G	+	1	0	SEC61A2	12243067	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.813000	0.99286	2.764000	0.94973	0.650000	0.86243	GGG		0.423	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		6	231	6	231	---	---	---	---	T	12203061	G	T	12203061	3	4	9	1	0	0	0	0	1	0	0	0	14001	1232	43	1	1146	1	SEC61A2	10	12203061	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	48020	12203061	123331686	480	719										
SEPHS1	22929	broad.mit.edu	37	chr10	13361211	13361211	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgcgacctcgatgatccgGggtttgtctatgattctggc	14	9	2	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.chr10:13361211G>T	ENST00000327347.5	-	9	1485	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000545675.1_3'UTR	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	370					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						CGATGATCCGGGGTTTGTCTA	0.488																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(1108-1110)ccC>ccA		selenophosphate synthetase 1							237	237	237					10																	13361211		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361211G>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.1110C>A	10.37:g.13361211G>T			Somatic				SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR	p.P370P	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	WXS	Illumina GAIIx	Phase_I	P49903	SPS1_HUMAN			9	1485	-			370					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.1110C>A	CCDS7098.1																																																																																				0.488	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		8	528	8	528	---	---	---	---	T	13361211	G	T	13361211	2	4	9	1	0	0	0	0	0	0	0	1	14054	1219	43	1		1	SEPHS1	10	13361211	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1158150	13361211	122173536	481	720										
FRMD4A	55691	broad.mit.edu	37	chr10	13900904	13900904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtacttgacatcggcggccCtccgtcatctaagagggaag	12	11	2	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.chr10:13900904C>A	ENST00000357447.2	-	3	422	c.54G>T	c.(52-54)gaG>gaT	p.E18D	FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	18					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						ATCGGCGGCCCTCCGTCATCT	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.(52-54)gaG>gaT		FERM domain containing 4A							134	129	131					10																	13900904		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13900904C>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.54G>T	10.37:g.13900904C>A	ENSP00000350032:p.Glu18Asp		Somatic				FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D	p.E18D	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			3	422	-			18					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.54G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259248	0.59321	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.4	3.55	0.40652	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.29908	0.895	0.50632	D	0.999886	B;B;P	0.36990	0.233;0.233;0.577	B;B;B	0.40134	0.108;0.138;0.32	T	0.67193	-0.5732	10	0.52906	T	0.07	-16.6644	11.3475	0.49569	0.0:0.8495:0.0:0.1505	.	34;51;18	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	D	3;18;18;51;34	ENSP00000351438:E3D;ENSP00000350032:E18D;ENSP00000367764:E18D;ENSP00000264546:E51D;ENSP00000344237:E34D	ENSP00000264546:E51D	E	-	3	2	FRMD4A	13940910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	0.665000	0.31066	0.585000	0.79938	GAG		0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		5	205	5	205	---	---	---	---	A	13900904	C	A	13900904	3	1	9	1	0	0	0	0	1	0	0	0	6051	680	24	1	3153	1	FRMD4A	10	13900904	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	539693	13900904	121633843	482	721										
ARHGAP21	57584	broad.mit.edu	37	chr10	24874770	24874770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcatcttttgtcgtgctgGggtctttcctagtgctgttt	10	8	3	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.chr10:24874770G>T	ENST00000396432.2	-	26	4934	c.4448C>A	c.(4447-4449)cCc>cAc	p.P1483H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1482					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						TGTCGTGCTGGGGTCTTTCCT	0.423																																						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.(4447-4449)cCc>cAc		Rho GTPase activating protein 21							289	266	274					10																	24874770		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874770G>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.4448C>A	10.37:g.24874770G>T	ENSP00000379709:p.Pro1483His		Somatic					p.P1483H	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	4934	-			1482					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4448C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315384	0.40996	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10960	2.82	4.78	-5.48	0.02592	.	2.264530	0.01663	N	0.025184	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41106	-0.9527	10	0.72032	D	0.01	.	4.3549	0.11174	0.1952:0.1049:0.5309:0.169	.	1482	Q5T5U3	RHG21_HUMAN	H	1483;932	ENSP00000379709:P1483H	ENSP00000379709:P1483H	P	-	2	0	ARHGAP21	24914776	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-3.675000	0.00396	-0.628000	0.05582	0.591000	0.81541	CCC		0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	589	9	589	---	---	---	---	T	24874770	G	T	24874770	3	4	9	1	0	0	0	0	1	0	0	0	871	1232	43	1	1432	1	ARHGAP21	10	24874770	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	10973866	24874770	110659977	483	722										
APBB1IP	54518	broad.mit.edu	37	chr10	26849107	26849107	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaagaacccttaaccagtGggtcatgggaatacggatag	11	9	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.chr10:26849107G>T	ENST00000376236.4	+	12	1684	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	410	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTTAACCAGTGGGTCATGGGA	0.502																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1228-1230)tGg>tTg		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							136	120	126					10																	26849107		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849107G>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.1229G>T	10.37:g.26849107G>T	ENSP00000365411:p.Trp410Leu		Somatic					p.W410L	NM_019043.3	NP_061916.3	WXS	Illumina GAIIx	Phase_I	Q7Z5R6	AB1IP_HUMAN			12	1684	+			410			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1229G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728681	0.69074	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	D	0.88354	-2.37	5.4	5.4	0.78164	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95920	0.8930	10	0.87932	D	0	.	18.0917	0.89477	0.0:0.0:1.0:0.0	.	410	Q7Z5R6	AB1IP_HUMAN	L	410	ENSP00000365411:W410L	ENSP00000365411:W410L	W	+	2	0	APBB1IP	26889113	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.501000	0.97979	2.676000	0.91093	0.650000	0.86243	TGG		0.502	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		6	161	6	161	---	---	---	---	T	26849107	G	T	26849107	3	4	9	1	0	0	0	0	1	0	0	0	760	1357	47	1	1267	1	APBB1IP	10	26849107	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1974337	26849107	108685640	484	723										
ZNF438	220929	broad.mit.edu	37	chr10	31137869	31137869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacacggagctgggcttagGggaagagctgttgtcttgct	16	7	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.chr10:31137869G>T	ENST00000361310.3	-	6	1794	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T	ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T|ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000452305.1_Missense_Mutation_p.P479T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	489					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)				CTGGGCTTAGGGGAAGAGCTG	0.473																																						ENST00000452305.1																			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.(1435-1437)Cct>Act		zinc finger protein 438							130	130	130					10																	31137869		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137869G>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.1465C>A	10.37:g.31137869G>T	ENSP00000354663:p.Pro489Thr		Somatic				ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T	p.P479T	NM_001143770.1	NP_001137242.1	WXS	Illumina GAIIx	Phase_I	Q7Z4V0	ZN438_HUMAN			8	1998	-		Prostate(175;0.0587)	489					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1435C>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493818	0.26774	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	5.59	-5.21	0.02815	.	0.544431	0.20047	N	0.100392	T	0.02230	0.0069	L	0.27053	0.805	0.21604	N	0.999628	B;B	0.23377	0.051;0.084	B;B	0.18561	0.01;0.022	T	0.41052	-0.9530	10	0.22706	T	0.39	-2.2012	2.5452	0.04736	0.139:0.3459:0.1443:0.3708	.	489;479	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	479;489;489;489;489;479;479;440;208;53	ENSP00000333571:P479T;ENSP00000354663:P489T;ENSP00000406934:P489T;ENSP00000412363:P489T;ENSP00000387546:P489T;ENSP00000413060:P479T;ENSP00000410898:P479T;ENSP00000445461:P440T;ENSP00000364460:P53T	ENSP00000333571:P479T	P	-	1	0	ZNF438	31177875	0.112000	0.22096	0.008000	0.14137	0.763000	0.43281	-0.040000	0.12104	-0.522000	0.06417	0.655000	0.94253	CCT		0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		9	260	9	260	---	---	---	---	T	31137869	G	T	31137869	3	4	9	1	0	0	0	0	1	0	0	0	17907	1232	43	1	1029	1	ZNF438	10	31137869	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4288762	31137869	104396878	485	724										
EPC1	80314	broad.mit.edu	37	chr10	32560609	32560609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatatgtcgtgcatttattgGggcaatagagtttacagtgg	12	4	0	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.chr10:32560609G>T	ENST00000263062.8	-	14	2580	c.2311C>A	c.(2311-2313)Cca>Aca	p.P771T	EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000319778.6_Missense_Mutation_p.P748T|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	771					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)				GCATTTATTGGGGCAATAGAG	0.443																																						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.(2242-2244)Cca>Aca		enhancer of polycomb homolog 1 (Drosophila)							222	204	210					10																	32560609		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.chr10:32560609G>T	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.2311C>A	10.37:g.32560609G>T	ENSP00000263062:p.Pro771Thr		Somatic				EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000263062.8_Missense_Mutation_p.P771T	p.P748T	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	WXS	Illumina GAIIx	Phase_I	Q9H2F5	EPC1_HUMAN			13	2544	-		Prostate(175;0.0199)	771					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.2242C>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560468	0.27827	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	4.26	0.50523	.	0.165048	0.51477	D	0.000097	T	0.22975	0.0555	N	0.14661	0.345	0.27351	N	0.956245	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.09930	-1.0652	9	0.14252	T	0.57	-8.4713	10.6732	0.45770	0.0:0.0:0.567:0.433	.	698;748;771	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	T	698;748;771	.	ENSP00000263062:P771T	P	-	1	0	EPC1	32600615	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.250000	0.58772	2.442000	0.82660	0.306000	0.20318	CCA		0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			6	352	6	352	---	---	---	---	T	32560609	G	T	32560609	3	4	9	1	0	0	0	0	1	0	0	0	5160	1232	43	1	207	1	EPC1	10	32560609	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1422740	32560609	102974138	486	725										
NRP1	8829	broad.mit.edu	37	chr10	33469173	33469173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacagcccccaggaggaccCccagggcactcatggctatg	12	15	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.chr10:33469173C>A	ENST00000265371.4	-	18	3128	c.2603G>T	c.(2602-2604)gGg>gTg	p.G868V	NRP1_ENST00000395995.1_Missense_Mutation_p.G851V|NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V			O14786	NRP1_HUMAN	neuropilin 1	868					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)	CAGGAGGACCCCCAGGGCACT	0.522																																					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.(2602-2604)gGg>gTg		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						166	161	162					10																	33469173		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.chr10:33469173C>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.2603G>T	10.37:g.33469173C>A	ENSP00000265371:p.Gly868Val		Somatic				NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V|NRP1_ENST00000395995.1_Missense_Mutation_p.G851V	p.G868V			WXS	Illumina GAIIx	Phase_I	O14786	NRP1_HUMAN			18	3128	-			868					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2603G>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121964	0.77436	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.97850	-3.45;-4.57;-3.45;-3.9	5.84	5.84	0.93424	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	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;1.0;1.0;1.0;1.0	D	0.99414	1.0931	10	0.87932	D	0	-22.7087	20.1551	0.98106	0.0:1.0:0.0:0.0	.	862;868;868;680;851	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	V	868;680;868;50;851	ENSP00000265371:G868V;ENSP00000364009:G680V;ENSP00000364001:G868V;ENSP00000379317:G851V	ENSP00000265371:G868V	G	-	2	0	NRP1	33509179	1.000000	0.71417	0.967000	0.41034	0.716000	0.41182	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GGG		0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	257	6	257	---	---	---	---	A	33469173	C	A	33469173	3	1	9	1	0	0	0	0	1	0	0	0	10660	623	22	1	172	1	NRP1	10	33469173	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	908564	33469173	102065574	487	726										
BMS1	9790	broad.mit.edu	37	chr10	43288532	43288532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgcctctttctggagttggGggtgtgctgtatgacaaaga	15	7	2	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.chr10:43288532G>T	ENST00000374518.5	+	8	1092	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	343					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						CTGGAGTTGGGGGTGTGCTGT	0.483																																						ENST00000374518.5																			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.(1027-1029)ggG>ggT		BMS1 ribosome biogenesis factor							131	123	126					10																	43288532		2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43288532G>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.1029G>T	10.37:g.43288532G>T			Somatic					p.G343G	NM_014753.3	NP_055568.3	WXS	Illumina GAIIx	Phase_I	Q14692	BMS1_HUMAN			8	1092	+								Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.1029G>T	CCDS7199.1																																																																																				0.483	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		9	339	9	339	---	---	---	---	T	43288532	G	T	43288532	2	4	9	1	0	0	0	0	0	0	0	1	1472	1219	43	1		1	BMS1	10	43288532	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9819359	43288532	92246215	488	727										
ZNF32	7580	broad.mit.edu	37	chr10	44140142	44140142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtagtgtcttcgaatctgGggatttttgttccagcttct	10	8	3	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.chr10:44140142G>T	ENST00000395797.1	-	3	366	c.178C>A	c.(178-180)Cca>Aca	p.P60T	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	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(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCGAATCTGGGGATTTTTGT	0.463																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(178-180)Cca>Aca		zinc finger protein 32							113	117	115					10																	44140142		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44140142G>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.178C>A	10.37:g.44140142G>T	ENSP00000379143:p.Pro60Thr		Somatic				ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T	p.P60T	NM_001005368.1	NP_001005368.1	WXS	Illumina GAIIx	Phase_I	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	366	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	60					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.178C>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820996	0.32237	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.06849	3.25;3.25	4.64	3.73	0.42828	.	0.000000	0.43747	D	0.000523	T	0.04634	0.0126	N	0.08118	0	0.32144	N	0.585166	B	0.06786	0.001	B	0.04013	0.001	T	0.06588	-1.0818	10	0.46703	T	0.11	-2.266	10.3605	0.43991	0.0:0.0:0.8049:0.1951	.	60	P17041	ZNF32_HUMAN	T	60	ENSP00000363556:P60T;ENSP00000379143:P60T	ENSP00000363556:P60T	P	-	1	0	ZNF32	43460148	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	-0.047000	0.11963	1.533000	0.49186	0.655000	0.94253	CCA		0.463	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	371	7	371	---	---	---	---	T	44140142	G	T	44140142	3	4	9	1	0	0	0	0	1	0	0	0	17835	1232	43	1	647	1	ZNF32	10	44140142	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	851610	44140142	91394605	489	728										
UBE2D1	7321	broad.mit.edu	37	chr10	60127731	60127731	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatcctaatccagatgaccCcttagtaccagatattgcac	6	12	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.chr10:60127731C>A	ENST00000373910.4	+	6	580	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CCAGATGACCCCTTAGTACCA	0.313																																						ENST00000373910.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						c.(352-354)cCc>cAc		ubiquitin-conjugating enzyme E2D 1							205	182	190					10																	60127731		2203	4298	6501	SO:0001583	missense	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|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 K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60127731C>A	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.353C>A	10.37:g.60127731C>A	ENSP00000363019:p.Pro118His		Somatic					p.P118H	NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	WXS	Illumina GAIIx	Phase_I	P51668	UB2D1_HUMAN			6	580	+			118					A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	c.353C>A	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769528	0.90020	.	.	ENSG00000072401	ENST00000373910	T	0.77358	-1.09	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95934	0.8941	10	0.87932	D	0	.	17.3667	0.87366	0.0:1.0:0.0:0.0	.	118	P51668	UB2D1_HUMAN	H	118	ENSP00000363019:P118H	ENSP00000363019:P118H	P	+	2	0	UBE2D1	59797737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.676000	0.84012	2.699000	0.92147	0.561000	0.74099	CCC		0.313	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		6	274	6	274	---	---	---	---	A	60127731	C	A	60127731	3	1	9	1	0	0	0	0	1	0	0	0	16845	623	22	1	375	1	UBE2D1	10	60127731	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	15987589	60127731	75407016	490	729										
ANK3	288	broad.mit.edu	37	chr10	61831142	61831142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggtgtttctggggttaaaGggcttttcccagagctgtct	14	7	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.chr10:61831142G>T	ENST00000280772.2	-	37	9688	c.9497C>A	c.(9496-9498)cCt>cAt	p.P3166H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3166					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						TGGGGTTAAAGGGCTTTTCCC	0.448																																						ENST00000280772.2																			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.(9496-9498)cCt>cAt		ankyrin 3, node of Ranvier (ankyrin G)							86	92	90					10																	61831142		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831142G>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.9497C>A	10.37:g.61831142G>T	ENSP00000280772:p.Pro3166His		Somatic				ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.P3166H	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	9688	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9497C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771664	0.69992	.	.	ENSG00000151150	ENST00000280772	D	0.94232	-3.38	5.48	5.48	0.80851	.	0.000000	0.41823	D	0.000805	D	0.96253	0.8778	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96423	0.9313	10	0.72032	D	0.01	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	3166	Q12955	ANK3_HUMAN	H	3166	ENSP00000280772:P3166H	ENSP00000280772:P3166H	P	-	2	0	ANK3	61501148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.584000	0.87258	0.561000	0.74099	CCT		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	174	5	174	---	---	---	---	T	61831142	G	T	61831142	3	4	9	1	0	0	0	0	1	0	0	0	622	1000	35	1	3977	1	ANK3	10	61831142	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1703411	61831142	73703605	491	730										
ARID5B	84159	broad.mit.edu	37	chr10	63845636	63845636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaagaaaaagaaaatgccCcaaagccccaggatgcagca	9	10	0	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.chr10:63845636C>A	ENST00000279873.7	+	9	1785	c.1375C>A	c.(1375-1377)Cca>Aca	p.P459T	ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	459					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)					AGAAAATGCCCCAAAGCCCCA	0.448																																						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.(1375-1377)Cca>Aca		AT rich interactive domain 5B (MRF1-like)							110	118	115					10																	63845636		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.chr10:63845636C>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.1375C>A	10.37:g.63845636C>A	ENSP00000279873:p.Pro459Thr		Somatic				ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	p.P459T	NM_032199.2	NP_115575.1	WXS	Illumina GAIIx	Phase_I	Q14865	ARI5B_HUMAN			9	1785	+	Prostate(12;0.016)|all_hematologic(501;0.215)		459					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1375C>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590194	0.46214	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.12984	2.63;2.63	5.77	4.82	0.62117	.	0.221825	0.38326	N	0.001726	T	0.11110	0.0271	N	0.24115	0.695	0.30612	N	0.7594	B;B	0.14012	0.002;0.009	B;B	0.12156	0.007;0.003	T	0.03555	-1.1025	10	0.39692	T	0.17	-12.479	15.8467	0.78899	0.0:0.8656:0.1344:0.0	.	216;459	Q14865-2;Q14865	.;ARI5B_HUMAN	T	459;216	ENSP00000279873:P459T;ENSP00000308862:P216T	ENSP00000279873:P459T	P	+	1	0	ARID5B	63515642	0.880000	0.30214	0.997000	0.53966	0.986000	0.74619	2.187000	0.42602	2.884000	0.98904	0.655000	0.94253	CCA		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	231	7	231	---	---	---	---	A	63845636	C	A	63845636	3	1	9	1	0	0	0	0	1	0	0	0	922	623	22	1	1409	1	ARID5B	10	63845636	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2014494	63845636	71689111	492	731										
H2AFY2	55506	broad.mit.edu	37	chr10	71868954	71868954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcgcgttcccgcctttccCcagcggcaggtaagatgcag	12	15	0	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.chr10:71868954C>A	ENST00000373255.4	+	8	1208	c.944C>A	c.(943-945)cCc>cAc	p.P315H	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	315	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CCGCCTTTCCCCAGCGGCAGG	0.542																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(943-945)cCc>cAc		H2A histone family, member Y2							57	56	56					10																	71868954		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71868954C>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.944C>A	10.37:g.71868954C>A	ENSP00000362352:p.Pro315His		Somatic				AIFM2_ENST00000373248.1_Intron	p.P315H	NM_018649.2	NP_061119.1	WXS	Illumina GAIIx	Phase_I	Q9P0M6	H2AW_HUMAN			8	1208	+			315			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.944C>A	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042416	0.75732	.	.	ENSG00000099284	ENST00000373255	T	0.21734	1.99	5.93	5.03	0.67393	Appr-1-p processing (2);	0.156761	0.56097	D	0.000023	T	0.34745	0.0908	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.10132	-1.0643	10	0.87932	D	0	.	14.6351	0.68682	0.0:0.9299:0.0:0.0701	.	315	Q9P0M6	H2AW_HUMAN	H	315	ENSP00000362352:P315H	ENSP00000362352:P315H	P	+	2	0	H2AFY2	71538960	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.928000	0.56506	1.509000	0.48786	0.655000	0.94253	CCC		0.542	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		5	80	5	80	---	---	---	---	A	71868954	C	A	71868954	3	1	9	1	0	0	0	0	1	0	0	0	6930	623	22	1	970	1	H2AFY2	10	71868954	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8023318	71868954	63665793	493	732										
PSAP	5660	broad.mit.edu	37	chr10	73578465	73578465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaagggcttatgggccgagGggcaggctccaattttctat	13	9	1	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.chr10:73578465G>T	ENST00000394936.3	-	13	1595	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	PSAP_ENST00000394934.1_Missense_Mutation_p.P485H			P07602	SAP_HUMAN	prosaposin	483	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				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						ATGGGCCGAGGGGCAGGCTCC	0.493																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(1447-1449)cCc>cAc		prosaposin							94	103	100					10																	73578465		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73578465G>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	ENST00000394936.3:c.1448C>A	10.37:g.73578465G>T	ENSP00000378394:p.Pro483His		Somatic				PSAP_ENST00000394934.1_Missense_Mutation_p.P485H	p.P483H			WXS	Illumina GAIIx	Phase_I	P07602	SAP_HUMAN			13	1595	-			483			Saposin B-type 4.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.1448C>A	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	6.891	0.533893	0.13188	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	D;D	0.90504	-2.68;-2.68	5.35	2.37	0.29283	Saposin-like (2);Saposin B (1);	0.162990	0.56097	D	0.000036	D	0.83027	0.5165	N	0.25485	0.75	0.41573	D	0.988696	B	0.14012	0.009	B	0.15484	0.013	T	0.74368	-0.3688	10	0.49607	T	0.09	-16.3072	10.2211	0.43198	0.0:0.2432:0.5056:0.2512	.	483	P07602	SAP_HUMAN	H	483;483;486;485;199;489;409	ENSP00000378394:P483H;ENSP00000378392:P485H	ENSP00000350063:P486H	P	-	2	0	PSAP	73248471	0.969000	0.33509	0.265000	0.24526	0.409000	0.31022	1.610000	0.36869	0.206000	0.20587	0.561000	0.74099	CCC		0.493	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		6	296	6	296	---	---	---	---	T	73578465	G	T	73578465	3	4	9	1	0	0	0	0	1	0	0	0	12643	1232	43	1	134	1	PSAP	10	73578465	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1709511	73578465	61956282	494	733										
P4HA1	5033	broad.mit.edu	37	chr10	74810827	74810827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaccattttgataccctccCcacggcacagcatttcgtac	5	15	0	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.chr10:74810827C>A	ENST00000307116.2	-	7	1000	c.884G>T	c.(883-885)gGg>gTg	p.G295V	P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000412021.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	295					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)	GATACCCTCCCCACGGCACAG	0.418																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(883-885)gGg>gTg		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						279	261	267					10																	74810827		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.chr10:74810827C>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.884G>T	10.37:g.74810827C>A	ENSP00000307318:p.Gly295Val		Somatic				P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000307116.2_Missense_Mutation_p.G295V	p.G295V	NM_001142595.1	NP_001136067.1	WXS	Illumina GAIIx	Phase_I	P13674	P4HA1_HUMAN			8	1217	-	Prostate(51;0.0198)		295					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.884G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.633461	0.87660	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.53857	0.65;0.64;0.65;0.65;0.64;0.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.996	T	0.81331	-0.0981	10	0.87932	D	0	-6.2948	19.7619	0.96323	0.0:1.0:0.0:0.0	.	295;295;295	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	V	295	ENSP00000307318:G295V;ENSP00000362099:G295V;ENSP00000411688:G295V;ENSP00000378353:G295V;ENSP00000263556:G295V;ENSP00000414464:G295V	ENSP00000263556:G295V	G	-	2	0	P4HA1	74480833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.671000	0.90904	0.557000	0.71058	GGG		0.418	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		11	582	11	582	---	---	---	---	A	74810827	C	A	74810827	3	1	9	1	0	0	0	0	1	0	0	0	11356	623	22	1	831	1	P4HA1	10	74810827	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1232362	74810827	60723920	495	734										
POLR3A	11128	broad.mit.edu	37	chr10	79785871	79785871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatcctatggtcgagcaccCcatatagcaagggggcatgt	11	12	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.chr10:79785871C>A	ENST00000372371.3	-	2	298	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	54					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)			GTCGAGCACCCCATATAGCAA	0.537																																						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.(160-162)gGg>gTg		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							110	101	104					10																	79785871		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.chr10:79785871C>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.161G>T	10.37:g.79785871C>A	ENSP00000361446:p.Gly54Val		Somatic					p.G54V	NM_007055.3	NP_008986.2	WXS	Illumina GAIIx	Phase_I	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		2	298	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		54					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.161G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460529	0.84317	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.46819	0.86	5.23	5.23	0.72850	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87480	0.2420	9	.	.	.	-23.7997	18.7977	0.92001	0.0:1.0:0.0:0.0	.	54	O14802	RPC1_HUMAN	V	54	ENSP00000361446:G54V	.	G	-	2	0	POLR3A	79455877	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.442000	0.80503	2.434000	0.82447	0.555000	0.69702	GGG		0.537	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		5	150	5	150	---	---	---	---	A	79785871	C	A	79785871	3	1	9	1	0	0	0	0	1	0	0	0	12228	623	22	1	4131	1	POLR3A	10	79785871	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4975044	79785871	55748876	496	735										
GRID1	2894	broad.mit.edu	37	chr10	87487628	87487628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaccttgctgatgagctccCcgatcatcccgttccaggag	9	15	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.chr10:87487628C>A	ENST00000327946.7	-	10	1602	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	506					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						GATGAGCTCCCCGATCATCCC	0.542										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.(1516-1518)gGg>gTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						101	93	96					10																	87487628		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.chr10:87487628C>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.1517G>T	10.37:g.87487628C>A	ENSP00000330148:p.Gly506Val	Multiple Myeloma(13;0.14)	Somatic				GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	p.G506V	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			10	1602	-			506					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1517G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758973	0.89843	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27256	1.68;1.68	5.73	5.73	0.89815	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	0.54711	0.1875	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.56511	-0.7967	10	0.72032	D	0.01	.	18.9377	0.92592	0.0:1.0:0.0:0.0	.	506	Q9ULK0	GRID1_HUMAN	V	506;77	ENSP00000330148:G506V;ENSP00000444455:G77V	ENSP00000330148:G506V	G	-	2	0	GRID1	87477608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.719000	0.93026	0.644000	0.83932	GGG		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		5	181	5	181	---	---	---	---	A	87487628	C	A	87487628	3	1	9	1	0	0	0	0	1	0	0	0	6771	623	22	1	1540	1	GRID1	10	87487628	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7701757	87487628	48047119	497	736										
IFIT1	3434	broad.mit.edu	37	chr10	91162647	91162647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagccattttctttgcttccCctaaggcaggctgtccgctt	8	13	1	0	rs202196296		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.chr10:91162647C>A	ENST00000371804.3	+	2	782	c.615C>A	c.(613-615)ccC>ccA	p.P205P	IFIT1_ENST00000546318.1_Silent_p.P174P|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	205					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.P205P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTTTGCTTCCCCTAAGGCAGG	0.463																																						ENST00000546318.1																			1	Substitution - coding silent(1)	p.P205P(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(520-522)ccC>ccA		interferon-induced protein with tetratricopeptide repeats 1							224	230	228					10																	91162647		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:91162647C>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.615C>A	10.37:g.91162647C>A			Somatic				IFIT1_ENST00000371804.3_Silent_p.P205P|LIPA_ENST00000371837.1_Intron	p.P174P	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	WXS	Illumina GAIIx	Phase_I	P09914	IFIT1_HUMAN			2	1809	+			205					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.522C>A	CCDS31243.1																																																																																				0.463	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		10	693	10	693	---	---	---	---	A	91162647	C	A	91162647	2	1	9	1	0	0	0	0	0	0	0	1	7521	610	22	1		1	IFIT1	10	91162647	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3675019	91162647	44372100	498	737										
CPEB3	22849	broad.mit.edu	37	chr10	93851634	93851634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacaaagatagtttttctgGggtccaaaggctgagaacca	10	8	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.chr10:93851634G>T	ENST00000265997.4	-	8	1812	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	CPEB3_ENST00000412050.4_Missense_Mutation_p.P533H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	547					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)				AGTTTTTCTGGGGTCCAAAGG	0.433																																						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.(1597-1599)cCc>cAc		cytoplasmic polyadenylation element binding protein 3							117	106	110					10																	93851634		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93851634G>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.1640C>A	10.37:g.93851634G>T	ENSP00000265997:p.Pro547His		Somatic				CPEB3_ENST00000265997.4_Missense_Mutation_p.P547H	p.P533H	NM_001178137.1	NP_001171608.1	WXS	Illumina GAIIx	Phase_I	Q8NE35	CPEB3_HUMAN			8	1686	-		Colorectal(252;0.0869)	547					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1598C>A	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748562	0.89753	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.91635	0.959;0.997;0.999	T	0.38950	-0.9637	10	0.54805	T	0.06	-8.839	19.7617	0.96321	0.0:0.0:1.0:0.0	.	547;533;533	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	533;533;547	ENSP00000398310:P533H;ENSP00000265997:P547H	ENSP00000265997:P547H	P	-	2	0	CPEB3	93841614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.790000	0.99075	2.671000	0.90904	0.655000	0.94253	CCC		0.433	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	137	5	137	---	---	---	---	T	93851634	G	T	93851634	3	4	9	1	0	0	0	0	1	0	0	0	3802	1232	43	1	468	1	CPEB3	10	93851634	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2688987	93851634	41683113	499	738										
ALDH18A1	5832	broad.mit.edu	37	chr10	97366611	97366611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagaccacgtggtccttccCtcgcagcagccacttagtag	10	14	0	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.chr10:97366611C>A	ENST00000371224.2	-	18	2433	c.2296G>T	c.(2296-2298)Ggg>Tgg	p.G766W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	766	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)		TGGTCCTTCCCTCGCAGCAGC	0.488																																						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.(2296-2298)Ggg>Tgg		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						160	162	161					10																	97366611		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.chr10:97366611C>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.2296G>T	10.37:g.97366611C>A	ENSP00000360268:p.Gly766Trp		Somatic				ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	p.G766W	NM_002860.3	NP_002851.2	WXS	Illumina GAIIx	Phase_I	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	18	2433	-		Colorectal(252;0.0402)	766			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.2296G>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622708	0.87460	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75050	-0.9;-0.9	5.28	5.28	0.74379	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93783	0.7085	10	0.87932	D	0	-15.3187	16.3898	0.83531	0.0:1.0:0.0:0.0	.	766;764	P54886;P54886-2	P5CS_HUMAN;.	W	766;764	ENSP00000360268:G766W;ENSP00000360265:G764W	ENSP00000360265:G764W	G	-	1	0	ALDH18A1	97356601	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.376000	0.79658	2.479000	0.83701	0.561000	0.74099	GGG		0.488	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		7	400	7	400	---	---	---	---	A	97366611	C	A	97366611	3	1	9	1	0	0	0	0	1	0	0	0	489	681	24	1	95	1	ALDH18A1	10	97366611	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3514977	97366611	38168136	500	739										
SLIT1	6585	broad.mit.edu	37	chr10	98824595	98824595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcagagcacggaaggccCcttcctcaatgcagctgatc	10	16	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.chr10:98824595C>A	ENST00000266058.4	-	6	769	c.524G>T	c.(523-525)gGg>gTg	p.G175V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V|SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	175					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)		ACGGAAGGCCCCTTCCTCAAT	0.562																																						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.(523-525)gGg>gTg		slit homolog 1 (Drosophila)							184	163	170					10																	98824595		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.chr10:98824595C>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.524G>T	10.37:g.98824595C>A	ENSP00000266058:p.Gly175Val		Somatic				SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V	p.G175V	NM_003061.2	NP_003052.2	WXS	Illumina GAIIx	Phase_I	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	6	769	-		Colorectal(252;0.162)	175					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.524G>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604960	0.87157	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.951;1.0	T	0.83214	-0.0072	10	0.87932	D	0	.	17.8864	0.88856	0.0:1.0:0.0:0.0	.	175;175	E7EWQ8;O75093	.;SLIT1_HUMAN	V	175;175;151;175;158;151;175	ENSP00000266058:G175V;ENSP00000360109:G175V;ENSP00000315005:G158V;ENSP00000360080:G175V	ENSP00000266058:G175V	G	-	2	0	SLIT1	98814585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.537000	0.85549	0.491000	0.48974	GGG		0.562	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	310	6	310	---	---	---	---	A	98824595	C	A	98824595	3	1	9	1	0	0	0	0	1	0	0	0	14739	623	22	1	4208	1	SLIT1	10	98824595	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1457984	98824595	36710152	501	740										
RRP12	23223	broad.mit.edu	37	chr10	99139075	99139075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttcagggtgttagccagGggcaagaagtaggtggtgaa	16	6	2	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.chr10:99139075G>T	ENST00000370992.4	-	15	1884	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000414986.1_Silent_p.P530P|RRP12_ENST00000315563.6_Silent_p.P491P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	591						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)		TGTTAGCCAGGGGCAAGAAGT	0.562																																						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.(1771-1773)ccC>ccA		ribosomal RNA processing 12 homolog (S. cerevisiae)							194	190	191					10																	99139075		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99139075G>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.1773C>A	10.37:g.99139075G>T			Somatic				RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000414986.1_Silent_p.P530P	p.P591P	NM_015179.3	NP_055994.2	WXS	Illumina GAIIx	Phase_I	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	15	1884	-		Colorectal(252;0.162)	591					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.1773C>A	CCDS7457.1																																																																																				0.562	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		10	445	10	445	---	---	---	---	T	99139075	G	T	99139075	2	4	9	1	0	0	0	0	0	0	0	1	13686	1219	43	1		1	RRP12	10	99139075	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	314480	99139075	36395672	502	741										
EXOSC1	51013	broad.mit.edu	37	chr10	99203015	99203015	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacaggttacaatagctccCacatctggcagtaactggga	9	10	1	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.chr10:99203015C>A	ENST00000370902.3	-	3	232	c.201G>T	c.(199-201)gtG>gtT	p.V67V	EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000352634.4_5'Flank|ZDHHC16_ENST00000370846.4_5'Flank|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000370886.5_Silent_p.V67V|ZDHHC16_ENST00000345745.5_5'Flank|ZDHHC16_ENST00000370854.3_5'Flank|EXOSC1_ENST00000370885.4_Intron|ZDHHC16_ENST00000393760.1_5'Flank|ZDHHC16_ENST00000353979.3_5'Flank|ZDHHC16_ENST00000370842.2_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				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)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458																																						ENST00000370902.3																			1	Substitution - coding silent(1)	p.V67V(1)	lung(1)	breast(1)|endometrium(1)|lung(5)	7						c.(199-201)gtG>gtT		exosome component 1							289	264	272					10																	99203015		2203	4300	6503	SO:0001819	synonymous_variant	51013				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	g.chr10:99203015C>A	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"CSL4 exosomal core protein homolog (yeast)"	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.201G>T	10.37:g.99203015C>A			Somatic				EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V	p.V67V	NM_016046.3	NP_057130.1	WXS	Illumina GAIIx	Phase_I	Q9Y3B2	EXOS1_HUMAN		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)	3	232	-		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)	67			S1 motif.		B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	c.201G>T	CCDS7459.1																																																																																				0.458	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049680.1			7	442	7	442	---	---	---	---	A	99203015	C	A	99203015	2	1	9	1	0	0	0	0	0	0	0	1	5313	581	21	1		1	EXOSC1	10	99203015	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	63940	99203015	36331732	503	742										
DNMBP	23268	broad.mit.edu	37	chr10	101715791	101715791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagctgaaacagaagagccCctgtaaagagggagcactgg	14	8	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.chr10:101715791C>A	ENST00000324109.4	-	4	1531	c.1440G>T	c.(1438-1440)agG>agT	p.R480S	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.R480S	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	480					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)		CAGAAGAGCCCCTGTAAAGAG	0.473																																						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.(1438-1440)agG>agT		dynamin binding protein							107	117	114					10																	101715791		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.chr10:101715791C>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.1440G>T	10.37:g.101715791C>A	ENSP00000315659:p.Arg480Ser		Somatic				DNMBP_ENST00000324109.4_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA	p.R480S			WXS	Illumina GAIIx	Phase_I	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1531	-		Colorectal(252;0.234)	480					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1440G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841506	0.16963	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11385	2.83;2.78	5.92	-2.13	0.07144	.	0.672005	0.13958	N	0.351069	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38090	-0.9677	10	0.05959	T	0.93	-0.2756	0.3845	0.00400	0.3204:0.2761:0.156:0.2474	.	480	Q6XZF7	DNMBP_HUMAN	S	480	ENSP00000344914:R480S;ENSP00000315659:R480S	ENSP00000315659:R480S	R	-	3	2	DNMBP	101705781	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-0.516000	0.06282	-0.739000	0.04809	0.561000	0.74099	AGG		0.473	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		6	300	6	300	---	---	---	---	A	101715791	C	A	101715791	3	1	9	1	0	0	0	0	1	0	0	0	4674	622	22	1	3349	1	DNMBP	10	101715791	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2512776	101715791	33818956	504	743										
SCD	6319	broad.mit.edu	37	chr10	102107910	102107910	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gataagttggagacgatgccCctctacttggaagacgacat	11	9	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.chr10:102107910C>A	ENST00000370355.2	+	2	498	c.117C>A	c.(115-117)ccC>ccA	p.P39P	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	39					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)		AGACGATGCCCCTCTACTTGG	0.507																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(115-117)ccC>ccA		stearoyl-CoA desaturase (delta-9-desaturase)							169	165	166					10																	102107910		2203	4300	6503	SO:0001819	synonymous_variant	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107910C>A	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.117C>A	10.37:g.102107910C>A			Somatic					p.P39P	NM_005063.4	NP_005054.3	WXS	Illumina GAIIx	Phase_I	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	498	+		Colorectal(252;0.0323)	39					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Silent	SNP	ENST00000370355.2	37	c.117C>A	CCDS7493.1																																																																																				0.507	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		7	261	7	261	---	---	---	---	A	102107910	C	A	102107910	2	1	9	1	0	0	0	0	0	0	0	1	13886	610	22	1		1	SCD	10	102107910	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	392119	102107910	33426837	505	744										
FAM178A	55719	broad.mit.edu	37	chr10	102698452	102698452	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattttagatctttgtttccCctggagaatcttcagccaga	8	9	3	3	rs199974864		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.chr10:102698452C>A	ENST00000238961.4	+	11	3155	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P	FAM178A_ENST00000370269.3_Silent_p.P871P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	871						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CTTTGTTTCCCCTGGAGAATC	0.363																																						ENST00000238961.4																			0											c.(2611-2613)ccC>ccA		family with sequence similarity 178, member A							187	182	183					10																	102698452		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102698452C>A	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.2613C>A	10.37:g.102698452C>A			Somatic				FAM178A_ENST00000370269.3_Silent_p.P871P	p.P871P	NM_018121.3	NP_060591.3	WXS	Illumina GAIIx	Phase_I	Q8IX21	F178A_HUMAN			11	3155	+								A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.2613C>A	CCDS7500.1																																																																																				0.363	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			6	352	6	352	---	---	---	---	A	102698452	C	A	102698452	2	1	9	1	0	0	0	0	0	0	0	1	5503	610	22	1		1	FAM178A	10	102698452	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	590542	102698452	32836295	506	745										
HPS6	79803	broad.mit.edu	37	chr10	103826089	103826089	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgctgttgcttgacttcggGggcactgtgagcctattgca	13	10	0	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.chr10:103826089G>T	ENST00000299238.5	+	1	943	c.858G>T	c.(856-858)ggG>ggT	p.G286G		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	286					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)		TTGACTTCGGGGGCACTGTGA	0.672									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(856-858)ggG>ggT		Hermansky-Pudlak syndrome 6							39	45	43					10																	103826089		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826089G>T	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.858G>T	10.37:g.103826089G>T			Somatic					p.G286G	NM_024747.5	NP_079023.2	WXS	Illumina GAIIx	Phase_I	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	943	+		Colorectal(252;0.122)	286					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.858G>T	CCDS7527.1																																																																																				0.672	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		4	76	4	76	---	---	---	---	T	103826089	G	T	103826089	2	4	9	1	0	0	0	0	0	0	0	1	7343	1219	43	1		1	HPS6	10	103826089	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1127637	103826089	31708658	507	746										
HPS6	79803	broad.mit.edu	37	chr10	103826902	103826902	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataaccgctggaaaggaaccCcccaatggaatactgccccc	8	15	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.chr10:103826902C>A	ENST00000299238.5	+	1	1756	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	557					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)		GAAAGGAACCCCCCAATGGAA	0.587									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1669-1671)ccC>ccA		Hermansky-Pudlak syndrome 6							63	62	62					10																	103826902		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826902C>A	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.1671C>A	10.37:g.103826902C>A			Somatic					p.P557P	NM_024747.5	NP_079023.2	WXS	Illumina GAIIx	Phase_I	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1756	+		Colorectal(252;0.122)	557					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.1671C>A	CCDS7527.1																																																																																				0.587	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		5	118	5	118	---	---	---	---	A	103826902	C	A	103826902	2	1	9	1	0	0	0	0	0	0	0	1	7343	610	22	1		1	HPS6	10	103826902	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	813	103826902	31707845	508	747										
SUFU	51684	broad.mit.edu	37	chr10	104264005	104264005	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcgcttcgctctttcccccGggactgcacgccatctacgg	9	17	2	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.chr10:104264005G>T	ENST00000369902.3	+	1	262	c.96G>T	c.(94-96)ccG>ccT	p.P32P	ACTR1A_ENST00000545684.1_5'Flank|ACTR1A_ENST00000487599.1_5'Flank|SUFU_ENST00000423559.2_Silent_p.P32P|ACTR1A_ENST00000369905.4_5'Flank|SUFU_ENST00000369899.2_Silent_p.P32P|ACTR1A_ENST00000446605.2_5'Flank	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	32					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)		TCTTTCCCCCGGGACTGCACG	0.721			"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.(94-96)ccG>ccT		suppressor of fused homolog (Drosophila)							23	24	23					10																	104264005		2202	4296	6498	SO:0001819	synonymous_variant	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.chr10:104264005G>T	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.96G>T	10.37:g.104264005G>T			Somatic				SUFU_ENST00000423559.2_Silent_p.P32P|SUFU_ENST00000369899.2_Silent_p.P32P	p.P32P	NM_016169.3	NP_057253.2	WXS	Illumina GAIIx	Phase_I	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	1	262	+		Colorectal(252;0.207)	32					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.96G>T	CCDS7537.1																																																																																				0.721	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	40	3	40	---	---	---	---	T	104264005	G	T	104264005	2	4	9	1	0	0	0	0	0	0	0	1	15367	1103	39	1		1	SUFU	10	104264005	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	437103	104264005	31270742	509	748										
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363021	105363021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggggagtttttcctggtcaGggacagcgaggagctgcctg	18	8	1	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.chr10:105363021G>T	ENST00000369774.4	-	15	2230	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	652	Ser-rich.				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)		TTCCTGGTCAGGGACAGCGAG	0.572																																						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.(1954-1956)Ctg>Atg		SH3 and PX domains 2A							115	137	129					10																	105363021		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363021G>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.1954C>A	10.37:g.105363021G>T	ENSP00000358789:p.Leu652Met		Somatic				SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M	p.L652M			WXS	Illumina GAIIx	Phase_I	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2230	-		Colorectal(252;0.0815)|Breast(234;0.131)	652			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1954C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.548|8.548	0.874932|0.874932	0.17395|0.17395	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.58797|.	0.39;0.38;0.53;0.31|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.244341|.	0.41605|.	D|.	0.000843|.	T|T	0.62575|0.62575	0.2439|0.2439	L|L	0.53249|0.53249	1.67|1.67	0.38003|0.38003	D|D	0.934297|0.934297	D;D;D;D|.	0.89917|.	0.999;0.999;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.996;0.996;0.996;0.998|.	T|T	0.64558|0.64558	-0.6379|-0.6379	10|5	0.33940|.	T|.	0.23|.	-14.3776|-14.3776	12.1679|12.1679	0.54141|0.54141	0.1231:0.0:0.8769:0.0|0.1231:0.0:0.8769:0.0	.|.	652;501;497;624|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	M|H	652;624;459;567;519;487|578	ENSP00000358789:L652M;ENSP00000348215:L624M;ENSP00000443663:L519M;ENSP00000441514:L487M|.	ENSP00000318135:L459M|.	L|P	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105353011|105353011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.258000|0.258000	0.26162|0.26162	1.869000|1.869000	0.39519|0.39519	2.543000|2.543000	0.85770|0.85770	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.572	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	313	6	313	---	---	---	---	T	105363021	G	T	105363021	3	4	9	1	0	0	0	0	1	0	0	0	14256	991	35	1	1451	1	SH3PXD2A	10	105363021	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1099016	105363021	30171726	510	749										
SORCS3	22986	broad.mit.edu	37	chr10	106737151	106737151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgatcagctcagacgaagGggcgacctatcagaagtatc	11	9	3	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.chr10:106737151G>T	ENST00000369701.3	+	4	1081	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	285					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)		TCAGACGAAGGGGCGACCTAT	0.468																																					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.(853-855)gGg>gTg		sortilin-related VPS10 domain containing receptor 3							132	113	119					10																	106737151		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737151G>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.854G>T	10.37:g.106737151G>T	ENSP00000358715:p.Gly285Val		Somatic					p.G285V	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1081	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	285					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.854G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842725	0.71488	.	.	ENSG00000156395	ENST00000369701	T	0.80994	-1.44	5.6	5.6	0.85130	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91544	0.5252	10	0.72032	D	0.01	.	19.6179	0.95643	0.0:0.0:1.0:0.0	.	285	Q9UPU3	SORC3_HUMAN	V	285	ENSP00000358715:G285V	ENSP00000358715:G285V	G	+	2	0	SORCS3	106727141	1.000000	0.71417	0.998000	0.56505	0.313000	0.28021	9.869000	0.99810	2.653000	0.90120	0.563000	0.77884	GGG		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		5	164	5	164	---	---	---	---	T	106737151	G	T	106737151	3	4	9	1	0	0	0	0	1	0	0	0	14932	1232	43	1	868	1	SORCS3	10	106737151	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1374130	106737151	28797596	511	750										
XPNPEP1	7511	broad.mit.edu	37	chr10	111633142	111633142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taccttctcgtaggctgtagGggtcccaaaatgcattgtcc	10	11	1	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.chr10:111633142G>T	ENST00000502935.1	-	16	1554	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAGGCTGTAGGGGTCCCAAAA	0.413																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1435-1437)Cct>Act		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							170	155	160					10																	111633142		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111633142G>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1435C>A	10.37:g.111633142G>T	ENSP00000421566:p.Pro479Thr		Somatic				XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T	p.P479T			WXS	Illumina GAIIx	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	16	1554	-		Breast(234;0.174)	436						Missense_Mutation	SNP	ENST00000502935.1	37	c.1435C>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794836	0.90453	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.82	5.82	0.92795	Peptidase M24, structural domain (3);	0.048989	0.85682	D	0.000000	D	0.91469	0.7307	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.92187	0.5756	10	0.46703	T	0.11	-12.7537	18.2796	0.90094	0.0:0.0:1.0:0.0	.	479;436	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	T	479;365;455;436	ENSP00000421566:P479T;ENSP00000358697:P365T;ENSP00000324011:P455T;ENSP00000358694:P436T	ENSP00000324011:P455T	P	-	1	0	XPNPEP1	111623132	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.496000	0.97967	2.752000	0.94435	0.655000	0.94253	CCT		0.413	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			7	252	7	252	---	---	---	---	T	111633142	G	T	111633142	3	4	9	1	0	0	0	0	1	0	0	0	17439	1232	43	1	589	1	XPNPEP1	10	111633142	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4895991	111633142	23901605	512	751										
NRAP	4892	broad.mit.edu	37	chr10	115413823	115413823	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaccatccttacaatttcgGggtctggcagagctcctggg	11	12	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.chr10:115413823G>T	ENST00000359988.3	-	5	666	c.422C>A	c.(421-423)cCc>cAc	p.P141H	NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H|NRAP_ENST00000369358.4_Missense_Mutation_p.P141H	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)		TACAATTTCGGGGTCTGGCAG	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.(421-423)cCc>cAc		nebulin-related anchoring protein							220	225	223					10																	115413823		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115413823G>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.422C>A	10.37:g.115413823G>T	ENSP00000353078:p.Pro141His		Somatic				NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000359988.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H	p.P141H			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	5	666	-		Colorectal(252;0.0233)|Breast(234;0.188)	141						Missense_Mutation	SNP	ENST00000359988.3	37	c.422C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675459	0.67928	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.21734	2.22;2.21;2.18;1.99	5.96	5.96	0.96718	.	0.057926	0.64402	D	0.000001	T	0.41488	0.1161	L	0.50333	1.59	0.43084	D	0.994749	P;P;P	0.52170	0.919;0.951;0.919	P;D;P	0.63877	0.832;0.919;0.832	T	0.07616	-1.0763	10	0.87932	D	0	.	17.5779	0.87956	0.0:0.0:1.0:0.0	.	141;141;141	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	141	ENSP00000358365:P141H;ENSP00000358367:P141H;ENSP00000353078:P141H;ENSP00000353666:P141H	ENSP00000353078:P141H	P	-	2	0	NRAP	115403813	1.000000	0.71417	0.988000	0.46212	0.527000	0.34593	5.737000	0.68606	2.832000	0.97577	0.655000	0.94253	CCC		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		7	454	7	454	---	---	---	---	T	115413823	G	T	115413823	3	4	9	1	0	0	0	0	1	0	0	0	10638	1232	43	1	4922	1	NRAP	10	115413823	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3780681	115413823	20120924	513	752										
RGS10	6001	broad.mit.edu	37	chr10	121275092	121275092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgttgagccgagactgccCctccacgttgacctgtgatg	11	14	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.chr10:121275092C>A	ENST00000369101.3	-	3	331	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	RGS10_ENST00000392865.1_Missense_Mutation_p.G96W|RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	102	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CGAGACTGCCCCTCCACGTTG	0.552																																						ENST00000392865.1																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(286-288)Ggg>Tgg		regulator of G-protein signaling 10							215	171	186					10																	121275092		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121275092C>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"Regulators of G-protein signaling"	9992	protein-coding gene	gene with protein product		602856	"regulator of G-protein signalling 10"			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.304G>T	10.37:g.121275092C>A	ENSP00000358097:p.Gly102Trp		Somatic				RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.G102W|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W	p.G96W	NM_002925.3	NP_002916.1	WXS	Illumina GAIIx	Phase_I	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	4	348	-		Lung NSC(174;0.094)|all_lung(145;0.123)	102			RGS.		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.286G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.265323	0.80358	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.02395	4.31;4.31;4.31	5.81	5.81	0.92471	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	M	0.70275	2.135	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	T	0.00164	-1.1968	10	0.38643	T	0.18	-11.4851	19.6849	0.95977	0.0:1.0:0.0:0.0	.	110;96;102	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	W	96;110;102	ENSP00000376605:G96W;ENSP00000358099:G110W;ENSP00000358097:G102W	ENSP00000358097:G102W	G	-	1	0	RGS10	121265082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.361000	0.59461	2.748000	0.94277	0.462000	0.41574	GGG		0.552	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		4	69	4	69	---	---	---	---	A	121275092	C	A	121275092	3	1	9	1	0	0	0	0	1	0	0	0	13293	623	22	1	225	1	RGS10	10	121275092	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5861269	121275092	14259655	514	753										
TACC2	10579	broad.mit.edu	37	chr10	123970974	123970974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tattgacaagtgggatgaccCcaattttaaccctttttctt	6	9	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.chr10:123970974C>A	ENST00000369005.1	+	9	7374	c.7034C>A	c.(7033-7035)cCc>cAc	p.P2345H	TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2345	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)				TGGGATGACCCCAATTTTAAC	0.473																																						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.(7033-7035)cCc>cAc		transforming, acidic coiled-coil containing protein 2							190	202	198					10																	123970974		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970974C>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.7034C>A	10.37:g.123970974C>A	ENSP00000358001:p.Pro2345His		Somatic				TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H	p.P2345H	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			9	7374	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2345			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7034C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005424	0.74932	.	.	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	0.46063	2.88;2.39;2.97;2.91;2.88;2.39;2.97;0.92;0.88;2.16;2.26;2.23;2.24;2.03;1.37	4.74	4.74	0.60224	.	0.000000	0.36482	N	0.002574	T	0.67618	0.2912	M	0.82056	2.57	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;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999	T	0.72487	-0.4278	10	0.59425	D	0.04	-13.7882	18.1162	0.89556	0.0:1.0:0.0:0.0	.	440;2349;423;2300;2349;423;423;49;491;2345	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	H	2345;491;2349;2300;2345;491;2349;2335;49;49;423;423;423;423;440;84	ENSP00000358001:P2345H;ENSP00000425062:P491H;ENSP00000424467:P2349H;ENSP00000427618:P2300H;ENSP00000334280:P2345H;ENSP00000350701:P491H;ENSP00000395048:P2349H;ENSP00000357997:P49H;ENSP00000357996:P49H;ENSP00000353763:P423H;ENSP00000357995:P423H;ENSP00000422815:P423H;ENSP00000260733:P423H;ENSP00000420967:P440H;ENSP00000422725:P84H	ENSP00000260733:P423H	P	+	2	0	TACC2	123960964	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.662000	0.83803	2.357000	0.79964	0.555000	0.69702	CCC		0.473	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	510	8	510	---	---	---	---	A	123970974	C	A	123970974	3	1	9	1	0	0	0	0	1	0	0	0	15499	623	22	1	7136	1	TACC2	10	123970974	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2695882	123970974	11563773	515	754										
BTBD16	118663	broad.mit.edu	37	chr10	124049456	124049456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagaccaaagaaaaatccCctgcaaagaggatcatcatt	7	9	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.chr10:124049456C>A	ENST00000260723.4	+	6	669	c.418C>A	c.(418-420)Cct>Act	p.P140T	BTBD16_ENST00000368994.2_Missense_Mutation_p.P141T	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	140										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)				AGAAAAATCCCCTGCAAAGAG	0.428																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(421-423)Cct>Act		BTB (POZ) domain containing 16							153	151	152					10																	124049456		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124049456C>A	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.418C>A	10.37:g.124049456C>A	ENSP00000260723:p.Pro140Thr		Somatic				BTBD16_ENST00000260723.4_Missense_Mutation_p.P140T	p.P141T			WXS	Illumina GAIIx	Phase_I	Q32M84	BTBDG_HUMAN			6	672	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	140					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.421C>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914184	0.17907	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.17691	2.26;2.26	4.33	2.43	0.29744	BTB/POZ fold (2);	0.703032	0.13291	N	0.398990	T	0.16257	0.0391	M	0.72118	2.19	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.20955	0.032;0.032	T	0.38308	-0.9667	10	0.09338	T	0.73	-6.5692	6.715	0.23298	0.0:0.7784:0.0:0.2216	.	141;140	Q32M84-2;Q32M84	.;BTBDG_HUMAN	T	140;141	ENSP00000260723:P140T;ENSP00000357990:P141T	ENSP00000260723:P140T	P	+	1	0	BTBD16	124039446	0.000000	0.05858	0.011000	0.14972	0.019000	0.09904	0.345000	0.19979	1.026000	0.39733	0.561000	0.74099	CCT		0.428	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		6	290	6	290	---	---	---	---	A	124049456	C	A	124049456	3	1	9	1	0	0	0	0	1	0	0	0	1541	623	22	1	436	1	BTBD16	10	124049456	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	78482	124049456	11485291	516	755										
ADAM12	8038	broad.mit.edu	37	chr10	127731623	127731623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgacctgcttgccggatgGggccgctgtctgtgcttcct	13	13	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.chr10:127731623G>T	ENST00000368679.4	-	18	2408	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	700					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)		TTGCCGGATGGGGCCGCTGTC	0.627																																						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.(2098-2100)cCc>cAc		ADAM metallopeptidase domain 12							62	52	56					10																	127731623		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.chr10:127731623G>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.2099C>A	10.37:g.127731623G>T	ENSP00000357668:p.Pro700His		Somatic				ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	p.P700H	NM_003474.4	NP_003465.3	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	18	2408	-		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)	700					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.2099C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784344	0.90282	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.87571	-2.27;-2.27	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.74258	2.255	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	0.999;1.0;1.0;1.0;1.0	D	0.94041	0.7309	10	0.87932	D	0	.	17.9771	0.89130	0.0:0.0:1.0:0.0	.	697;697;700;697;700	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	H	700	ENSP00000357668:P700H;ENSP00000357665:P700H	ENSP00000357665:P700H	P	-	2	0	ADAM12	127721613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.114000	0.94329	2.465000	0.83290	0.561000	0.74099	CCC		0.627	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			4	43	4	43	---	---	---	---	T	127731623	G	T	127731623	3	4	9	1	0	0	0	0	1	0	0	0	236	1232	43	1	762	1	ADAM12	10	127731623	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3682167	127731623	7803124	517	756										
ADAM12	8038	broad.mit.edu	37	chr10	127787032	127787032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtgcacatgctcatgattgGggccatgccgatggtggtcc	14	11	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.chr10:127787032G>T	ENST00000368679.4	-	10	1267	c.958C>A	c.(958-960)Cca>Aca	p.P320T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	320	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)		CTCATGATTGGGGCCATGCCG	0.473																																						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.(958-960)Cca>Aca		ADAM metallopeptidase domain 12							161	152	155					10																	127787032		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.chr10:127787032G>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.958C>A	10.37:g.127787032G>T	ENSP00000357668:p.Pro320Thr		Somatic				ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	p.P320T	NM_003474.4	NP_003465.3	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	10	1267	-		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)	320			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.958C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629513	0.87660	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.86366	-2.11;-2.11	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	L	0.53249	1.67	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;0.999;0.999;1.0	D	0.90285	0.4318	10	0.35671	T	0.21	.	18.4753	0.90790	0.0:0.0:1.0:0.0	.	317;317;320;317;320	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	320	ENSP00000357668:P320T;ENSP00000357665:P320T	ENSP00000357665:P320T	P	-	1	0	ADAM12	127777022	1.000000	0.71417	0.172000	0.22920	0.931000	0.56810	9.463000	0.97652	2.655000	0.90218	0.655000	0.94253	CCA		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			7	362	7	362	---	---	---	---	T	127787032	G	T	127787032	3	4	9	1	0	0	0	0	1	0	0	0	236	1232	43	1	1935	1	ADAM12	10	127787032	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	55409	127787032	7747715	518	757										
MKI67	4288	broad.mit.edu	37	chr10	129923869	129923869	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcaggtgctgaggctcagGggaaagtggggaccgtcgac	18	8	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.chr10:129923869G>T	ENST00000368654.3	-	2	438	c.63C>A	c.(61-63)ccC>ccA	p.P21P	MKI67_ENST00000368653.3_Silent_p.P21P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	21					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)				TGAGGCTCAGGGGAAAGTGGG	0.527																																						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.(61-63)ccC>ccA		marker of proliferation Ki-67							79	92	87					10																	129923869		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129923869G>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.63C>A	10.37:g.129923869G>T			Somatic				MKI67_ENST00000368653.3_Silent_p.P21P	p.P21P	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			2	438	-		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)	21					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.63C>A	CCDS7659.1																																																																																				0.527	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	189	6	189	---	---	---	---	T	129923869	G	T	129923869	2	4	9	1	0	0	0	0	0	0	0	1	9598	1219	43	1		1	MKI67	10	129923869	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2136837	129923869	5610878	519	758										
EBF3	253738	broad.mit.edu	37	chr10	131640484	131640484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggttgttgcccagggtgGggatctggttgtgattgcgg	19	6	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.chr10:131640484G>T	ENST00000355311.5	-	13	1340	c.1268C>A	c.(1267-1269)cCc>cAc	p.P423H	EBF3_ENST00000368648.3_Missense_Mutation_p.P414H|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	423					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)		GCCCAGGGTGGGGATCTGGTT	0.617																																						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.(1240-1242)cCc>cAc		early B-cell factor 3							241	197	212					10																	131640484		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640484G>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.1268C>A	10.37:g.131640484G>T	ENSP00000347463:p.Pro423His		Somatic				EBF3_ENST00000355311.5_Missense_Mutation_p.P423H	p.P414H	NM_001005463.2	NP_001005463.1	WXS	Illumina GAIIx	Phase_I	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1313	-		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)	423					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1241C>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433077	0.96150	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.41400	1.0;1.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.60455	1.87	0.80722	D	1	P	0.52316	0.952	P	0.55785	0.784	T	0.57323	-0.7831	10	0.59425	D	0.04	-15.4467	19.856	0.96761	0.0:0.0:1.0:0.0	.	414	Q9H4W6-2	.	H	423;414	ENSP00000347463:P423H;ENSP00000357637:P414H	ENSP00000347463:P423H	P	-	2	0	EBF3	131530474	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.771000	0.98977	2.776000	0.95493	0.650000	0.86243	CCC		0.617	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		7	282	7	282	---	---	---	---	T	131640484	G	T	131640484	3	4	9	1	0	0	0	0	1	0	0	0	4882	1232	43	1	430	1	EBF3	10	131640484	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1716615	131640484	3894263	520	759										
DUSP8	1850	broad.mit.edu	37	chr11	1579410	1579410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttgtcgttgatggggaccCgcatgaagcggctctcgcag	15	10	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.chr11:1579410C>A	ENST00000397374.3	-	5	756	c.629G>T	c.(628-630)cGg>cTg	p.R210L	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	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)		GATGGGGACCCGCATGAAGCG	0.577																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(628-630)cGg>cTg		dual specificity phosphatase 8							82	85	84					11																	1579410		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.chr11:1579410C>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.629G>T	11.37:g.1579410C>A	ENSP00000380530:p.Arg210Leu		Somatic				DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR	p.R210L	NM_004420.2	NP_004411.2	WXS	Illumina GAIIx	Phase_I	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	5	756	-		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)	210			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.629G>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806030	0.90623	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.60920	0.15;0.15	3.65	3.65	0.41850	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.077137	0.52532	D	0.000064	T	0.77232	0.4100	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82402	-0.0475	10	0.72032	D	0.01	.	15.9099	0.79463	0.0:1.0:0.0:0.0	.	210	Q13202	DUS8_HUMAN	L	210	ENSP00000380530:R210L;ENSP00000329539:R210L	ENSP00000329539:R210L	R	-	2	0	DUSP8	1535986	1.000000	0.71417	0.984000	0.44739	0.746000	0.42486	5.644000	0.67902	2.058000	0.61347	0.313000	0.20887	CGG		0.577	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		4	167	4	167	---	---	---	---	A	1579410	C	A	1579410	3	1	9	1	0	0	0	0	1	0	0	0	4831	652	23	1	1260	1	DUSP8	11	1579410	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		1579410	133427106	521	760										
ZNF195	7748	broad.mit.edu	37	chr11	3381267	3381267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcacatctgtaatgttccCctccggcataaattctattt	4	12	3	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.chr11:3381267C>A	ENST00000399602.4	-	6	1097	c.971G>T	c.(970-972)gGg>gTg	p.G324V	ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000354599.6_Missense_Mutation_p.G252V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	324					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(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTAATGTTCCCCTCCGGCATA	0.388																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(754-756)gGg>gTg		zinc finger protein 195							104	98	100					11																	3381267		1883	4125	6008	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381267C>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.971G>T	11.37:g.3381267C>A	ENSP00000382511:p.Gly324Val		Somatic				ZNF195_ENST00000399602.4_Missense_Mutation_p.G324V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V	p.G252V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	WXS	Illumina GAIIx	Phase_I	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	859	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	324					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.755G>T	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.717341	0.30413	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	0.683	-1.37	0.09056	.	.	.	.	.	T	0.52629	0.1746	N	0.20574	0.59	0.37842	D	0.929095	D;B;D;B;D;B	0.89917	0.997;0.116;1.0;0.184;1.0;0.184	D;B;D;B;D;B	0.87578	0.996;0.007;0.998;0.016;0.994;0.016	T	0.57201	-0.7852	9	0.87932	D	0	.	1.9108	0.03287	0.2695:0.2654:0.0:0.4651	.	305;183;301;256;324;252	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	V	252;324;256;256;301;305	ENSP00000346613:G252V;ENSP00000382511:G324V;ENSP00000344483:G256V;ENSP00000387998:G256V;ENSP00000005082:G301V;ENSP00000435828:G305V	ENSP00000005082:G301V	G	-	2	0	ZNF195	3337843	0.004000	0.15560	0.000000	0.03702	0.075000	0.17131	0.876000	0.28092	-0.979000	0.03529	0.305000	0.20034	GGG		0.388	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	370	6	370	---	---	---	---	A	3381267	C	A	3381267	3	1	9	1	0	0	0	0	1	0	0	0	17755	623	22	1	922	1	ZNF195	11	3381267	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1801857	3381267	131625249	522	761										
RRM1	6240	broad.mit.edu	37	chr11	4144501	4144501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagacggaaacaggcaccCcgtatatgctctacaaagat	8	12	2	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.chr11:4144501C>A	ENST00000300738.5	+	12	1411	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000423050.2_Missense_Mutation_p.P306T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	403					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)	AACAGGCACCCCGTATATGCT	0.463																																					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.(1207-1209)Ccg>Acg		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						108	107	108					11																	4144501		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4144501C>A	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.1207C>A	11.37:g.4144501C>A	ENSP00000300738:p.Pro403Thr		Somatic				RRM1_ENST00000423050.2_Missense_Mutation_p.P306T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000528470.1_3'UTR	p.P403T	NM_001033.3	NP_001024.1	WXS	Illumina GAIIx	Phase_I	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	12	1411	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	403					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1207C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000342	0.74818	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.71	5.71	0.89125	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92699	0.6173	10	0.87932	D	0	-8.6485	18.8429	0.92192	0.0:1.0:0.0:0.0	.	403	P23921	RIR1_HUMAN	T	403;306;316;181;181;65	ENSP00000300738:P403T;ENSP00000390539:P306T;ENSP00000431464:P181T;ENSP00000442148:P65T	ENSP00000300738:P403T	P	+	1	0	RRM1	4101077	1.000000	0.71417	0.998000	0.56505	0.270000	0.26580	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	CCG		0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		7	202	7	202	---	---	---	---	A	4144501	C	A	4144501	3	1	9	1	0	0	0	0	1	0	0	0	13681	623	22	1	1253	1	RRM1	11	4144501	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	763234	4144501	130862015	523	762										
RRM1	6240	broad.mit.edu	37	chr11	4148347	4148347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttatcctgatgagataccCttttgagagtgcagaagccc	9	9	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.chr11:4148347C>A	ENST00000300738.5	+	14	1757	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	RRM1_ENST00000534285.1_Missense_Mutation_p.P296H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000423050.2_Missense_Mutation_p.P421H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	518					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)	ATGAGATACCCTTTTGAGAGT	0.458																																					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.(1552-1554)cCt>cAt		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						122	126	124					11																	4148347		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4148347C>A	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.1553C>A	11.37:g.4148347C>A	ENSP00000300738:p.Pro518His		Somatic				RRM1_ENST00000423050.2_Missense_Mutation_p.P421H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H	p.P518H	NM_001033.3	NP_001024.1	WXS	Illumina GAIIx	Phase_I	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	14	1757	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	518					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1553C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104971	0.77096	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.54	4.63	0.57726	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.046813	0.85682	D	0.000000	T	0.72969	0.3527	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.79495	-0.1780	10	0.87932	D	0	-7.4537	13.3562	0.60629	0.0:0.923:0.0:0.077	.	518	P23921	RIR1_HUMAN	H	518;421;431;296;296;180	ENSP00000300738:P518H;ENSP00000390539:P421H;ENSP00000431464:P296H;ENSP00000442148:P180H	ENSP00000300738:P518H	P	+	2	0	RRM1	4104923	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.393000	0.79851	1.478000	0.48253	0.655000	0.94253	CCT		0.458	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		6	297	6	297	---	---	---	---	A	4148347	C	A	4148347	3	1	9	1	0	0	0	0	1	0	0	0	13681	681	24	1	1607	1	RRM1	11	4148347	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3846	4148347	130858169	524	763										
OR52I1	390037	broad.mit.edu	37	chr11	4615305	4615305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaccacacaatggaaaccCctgcctccttcctccttgtg	5	17	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.chr11:4615305C>A	ENST00000530443.2	+	1	37	c.37C>A	c.(37-39)Cct>Act	p.P13T	OR52I1_ENST00000450052.2_Missense_Mutation_p.P37T	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, 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(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGAAACCCCTGCCTCCTT	0.473																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(109-111)Cct>Act		olfactory receptor, family 52, subfamily I, member 1							179	173	175					11																	4615305		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615305C>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.37C>A	11.37:g.4615305C>A	ENSP00000436453:p.Pro13Thr		Somatic				OR52I1_ENST00000530443.2_Missense_Mutation_p.P13T	p.P37T			WXS	Illumina GAIIx	Phase_I	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	109	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	13					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.109C>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005273	0.07866	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.51071	0.72;0.72	4.82	1.43	0.22495	.	0.262401	0.20332	N	0.094408	T	0.45054	0.1323	M	0.81802	2.56	0.29978	N	0.817965	B	0.25850	0.136	B	0.21151	0.033	T	0.54275	-0.8318	9	0.62326	D	0.03	-4.4316	6.901	0.24283	0.3536:0.558:0.0:0.0884	.	13	Q8NGK6	O52I1_HUMAN	T	37;13	ENSP00000409094:P37T;ENSP00000436453:P13T	ENSP00000409094:P37T	P	+	1	0	OR52I1	4571881	0.033000	0.19621	0.601000	0.28877	0.117000	0.20001	0.719000	0.25881	0.615000	0.30124	-0.300000	0.09419	CCT		0.473	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		6	382	6	382	---	---	---	---	A	4615305	C	A	4615305	3	1	9	1	0	0	0	0	1	0	0	0	11120	623	22	1	39	1	OR52I1	11	4615305	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	466958	4615305	130391211	525	764										
HBB	3043	broad.mit.edu	37	chr11	5247873	5247873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtgtggcaaaggtgccCttgaggttgtccaggtgagc	15	9	1	2	rs33991993		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.chr11:5247873C>A	ENST00000335295.4	-	2	298	c.249G>T	c.(247-249)aaG>aaT	p.K83N	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	83		Not glycated.	K -> M (in Helsinki; O(2) affinity up). {ECO:0000269|PubMed:826083}.|K -> N (in Providence).		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)	CAAAGGTGCCCTTGAGGTTGT	0.537									Sickle Cell Trait																													ENST00000335295.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15						c.(247-249)aaG>aaT		hemoglobin, beta	Iron Dextran(DB00893)						141	119	126					11																	5247873		2201	4298	6499	SO:0001583	missense	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.chr11:5247873C>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.249G>T	11.37:g.5247873C>A	ENSP00000333994:p.Lys83Asn		Somatic					p.K83N	NM_000518.4	NP_000509.1	WXS	Illumina GAIIx	Phase_I	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	298	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence).		Not glycated.	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.249G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939652	0.73557	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.93307	-3.2;-3.2	5.24	4.32	0.51571	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.95937	0.8677	M	0.86268	2.805	0.80722	D	1	P	0.45044	0.849	P	0.55749	0.783	D	0.96427	0.9316	9	0.87932	D	0	-11.1627	13.2852	0.60239	0.0:0.922:0.0:0.078	rs33991993	83	P68871	HBB_HUMAN	N	83	ENSP00000333994:K83N;ENSP00000369671:K83N	ENSP00000333994:K83N	K	-	3	2	HBB	5204449	0.854000	0.29725	1.000000	0.80357	0.590000	0.36582	1.666000	0.37460	1.550000	0.49438	0.650000	0.86243	AAG		0.537	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		6	142	6	142	---	---	---	---	A	5247873	C	A	5247873	3	1	9	1	0	0	0	0	1	0	0	0	6978	680	24	1	202	1	HBB	11	5247873	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	632568	5247873	129758643	526	765										
OR56B1	387748	broad.mit.edu	37	chr11	5758698	5758698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaaaaggtgctgtttgccCttacaaaagaaataagatct	7	8	1	2	rs148131819	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.chr11:5758698C>A	ENST00000317121.3	+	1	1018	c.952C>A	c.(952-954)Ctt>Att	p.L318I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	318						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)		GCTGTTTGCCCTTACAAAAGA	0.408																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(952-954)Ctt>Att		olfactory receptor, family 56, subfamily B, member 1							126	122	123					11																	5758698		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758698C>A	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.952C>A	11.37:g.5758698C>A	ENSP00000322939:p.Leu318Ile		Somatic				TRIM5_ENST00000380027.1_Intron	p.L318I	NM_001005180.2	NP_001005180.1	WXS	Illumina GAIIx	Phase_I	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	1018	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	318					B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.952C>A	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557669	0.13436	.	.	ENSG00000181023	ENST00000317121	T	0.04603	3.59	5.31	-5.03	0.02973	.	911.360000	0.00575	U	0.000308	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.38373	-0.9664	10	0.21540	T	0.41	17.6218	13.1277	0.59364	0.0:0.3449:0.0:0.6551	.	318	Q8NGI3	O56B1_HUMAN	I	318	ENSP00000322939:L318I	ENSP00000322939:L318I	L	+	1	0	OR56B1	5715274	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.469000	0.02348	-1.239000	0.02532	-0.982000	0.02568	CTT		0.408	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		8	375	8	375	---	---	---	---	A	5758698	C	A	5758698	3	1	9	1	0	0	0	0	1	0	0	0	11137	681	24	1	954	1	OR56B1	11	5758698	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	510825	5758698	129247818	527	766										
OR52N4	390072	broad.mit.edu	37	chr11	5776301	5776301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcacccacaccttcacaGggatggagtctggggtgctt	11	12	4	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.chr11:5776301G>T	ENST00000317254.3	+	1	379	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	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(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)		CACCTTCACAGGGATGGAGTC	0.478																																						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.(331-333)Ggg>Tgg		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							156	154	154					11																	5776301		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776301G>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.331G>T	11.37:g.5776301G>T	ENSP00000323224:p.Gly111Trp		Somatic				TRIM5_ENST00000380027.1_Intron	p.G111W	NM_001005175.2	NP_001005175.3	WXS	Illumina GAIIx	Phase_I	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	379	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	111					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.331G>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101911	0.37048	.	.	ENSG00000181074	ENST00000317254	T	0.10099	2.91	5.97	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000136	T	0.23210	0.0561	M	0.86953	2.85	0.22562	N	0.998981	B	0.26602	0.154	B	0.38880	0.284	T	0.11203	-1.0597	10	0.46703	T	0.11	.	10.3346	0.43841	0.0708:0.0:0.7947:0.1345	.	111	Q8NGI2	O52N4_HUMAN	W	111	ENSP00000323224:G111W	ENSP00000323224:G111W	G	+	1	0	OR52N4	5732877	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.877000	0.04197	1.532000	0.49169	0.557000	0.71058	GGG		0.478	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		6	246	6	246	---	---	---	---	T	5776301	G	T	5776301	3	4	9	1	0	0	0	0	1	0	0	0	11129	1000	35	1	333	1	OR52N4	11	5776301	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17603	5776301	129230215	528	767										
DENND5A	23258	broad.mit.edu	37	chr11	9182364	9182364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgttcacctccccatgccCtagctccacagcttctcggc	7	18	2	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.chr11:9182364C>A	ENST00000328194.3	-	12	2652	c.2332G>T	c.(2332-2334)Ggg>Tgg	p.G778W	DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W|DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	778					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						TCCCCATGCCCTAGCTCCACA	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.(2332-2334)Ggg>Tgg		DENN/MADD domain containing 5A							207	174	185					11																	9182364		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9182364C>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.2332G>T	11.37:g.9182364C>A	ENSP00000328524:p.Gly778Trp		Somatic				DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W	p.G778W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			12	2652	-			778					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2332G>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060625	0.93846	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.34072	2.72;2.71;1.38	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68138	-0.5488	10	0.87932	D	0	.	20.1536	0.98095	0.0:1.0:0.0:0.0	.	778;778	E9PS91;Q6IQ26	.;DEN5A_HUMAN	W	778;778;121	ENSP00000328524:G778W;ENSP00000435866:G778W;ENSP00000432549:G121W	ENSP00000328524:G778W	G	-	1	0	DENND5A	9138940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.764000	0.94973	0.650000	0.86243	GGG		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		5	169	5	169	---	---	---	---	A	9182364	C	A	9182364	3	1	9	1	0	0	0	0	1	0	0	0	4436	681	24	1	1579	1	DENND5A	11	9182364	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3406063	9182364	125824152	529	768										
DENND5A	23258	broad.mit.edu	37	chr11	9191477	9191477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccgcctccactgggcagGggcattccttttcgtccacc	9	16	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.chr11:9191477G>T	ENST00000328194.3	-	10	2397	c.2077C>A	c.(2077-2079)Cct>Act	p.P693T	DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T|DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	693					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						CACTGGGCAGGGGCATTCCTT	0.433																																						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.(2077-2079)Cct>Act		DENN/MADD domain containing 5A							248	213	225					11																	9191477		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9191477G>T	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.2077C>A	11.37:g.9191477G>T	ENSP00000328524:p.Pro693Thr		Somatic				DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T	p.P693T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			10	2397	-			693					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2077C>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341851	0.24339	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.16324	3.82;3.82;2.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.02802	-0.49	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.22068	-1.0227	10	0.07644	T	0.81	.	18.8896	0.92392	0.0:0.0:1.0:0.0	.	693;693	E9PS91;Q6IQ26	.;DEN5A_HUMAN	T	693;693;36	ENSP00000328524:P693T;ENSP00000435866:P693T;ENSP00000432549:P36T	ENSP00000328524:P693T	P	-	1	0	DENND5A	9148053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.459000	0.83118	0.655000	0.94253	CCT		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		6	352	6	352	---	---	---	---	T	9191477	G	T	9191477	3	4	9	1	0	0	0	0	1	0	0	0	4436	1232	43	1	1842	1	DENND5A	11	9191477	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9113	9191477	125815039	530	769										
IPO7	10527	broad.mit.edu	37	chr11	9430093	9430093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatcgagaaacagcaccagGggatatatccccttatacta	8	10	0	2	rs148503390		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.chr11:9430093G>T	ENST00000379719.3	+	3	369	c.227G>T	c.(226-228)gGg>gTg	p.G76V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	76	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)		ACAGCACCAGGGGATATATCC	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		16240	0		0	False		,,,				2504	0					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.(226-228)gGg>gTg		importin 7		G	VAL/GLY	3,4399		0,3,2198	67	69	68		227	5.7	1	11	dbSNP_134	68	0,8592		0,0,4296	yes	missense	IPO7	NM_006391.2	109	0,3,6494	TT,TG,GG		0.0,0.0682,0.0231	benign	76/1039	9430093	3,12991	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.chr11:9430093G>T	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.227G>T	11.37:g.9430093G>T	ENSP00000369042:p.Gly76Val		Somatic					p.G76V	NM_006391.2	NP_006382.1	WXS	Illumina GAIIx	Phase_I	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	3	369	+			76			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.227G>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681426	0.68042	6.82E-4	0.0	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.46063	1.75;0.88	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.094804	0.64402	D	0.000001	T	0.50905	0.1643	M	0.67397	2.05	0.80722	D	1	B	0.34147	0.438	B	0.39503	0.301	T	0.48422	-0.9037	10	0.45353	T	0.12	.	19.9294	0.97114	0.0:0.0:1.0:0.0	.	76	O95373	IPO7_HUMAN	V	76;14	ENSP00000369042:G76V;ENSP00000435235:G14V	ENSP00000369042:G76V	G	+	2	0	IPO7	9386669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.701000	0.92244	0.650000	0.86243	GGG		0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		5	191	5	191	---	---	---	---	T	9430093	G	T	9430093	3	4	9	1	0	0	0	0	1	0	0	0	7797	1232	43	1	237	1	IPO7	11	9430093	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	238616	9430093	125576423	531	770										
SBF2	81846	broad.mit.edu	37	chr11	9867158	9867158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttggtaaaattatttgtgGggtagtttgtccagcagcaa	11	4	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.chr11:9867158G>T	ENST00000256190.8	-	24	3201	c.3064C>A	c.(3064-3066)Cca>Aca	p.P1022T	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1022					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)		ATTATTTGTGGGGTAGTTTGT	0.383																																						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.(3064-3066)Cca>Aca		SET binding factor 2							152	154	153					11																	9867158		2201	4293	6494	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9867158G>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.3064C>A	11.37:g.9867158G>T	ENSP00000256190:p.Pro1022Thr		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.P1022T	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	24	3201	-			1022					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3064C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783025	0.49891	.	.	ENSG00000133812	ENST00000256190	D	0.85339	-1.97	5.87	4.94	0.65067	.	0.048378	0.85682	N	0.000000	T	0.77198	0.4095	L	0.32530	0.975	0.80722	D	1	B	0.17268	0.021	B	0.20184	0.028	T	0.70612	-0.4824	10	0.07030	T	0.85	.	16.1776	0.81862	0.0:0.0:0.8657:0.1343	.	1022	Q86WG5	MTMRD_HUMAN	T	1022	ENSP00000256190:P1022T	ENSP00000256190:P1022T	P	-	1	0	SBF2	9823734	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.621000	0.83083	1.447000	0.47661	0.655000	0.94253	CCA		0.383	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	297	7	297	---	---	---	---	T	9867158	G	T	9867158	3	4	9	1	0	0	0	0	1	0	0	0	13859	1232	43	1	2553	1	SBF2	11	9867158	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	437065	9867158	125139358	532	771										
PIK3C2A	5286	broad.mit.edu	37	chr11	17111359	17111359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgaaatctttcaaaggcaGggttactccacccaagaaaa	8	9	2	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.chr11:17111359G>T	ENST00000265970.7	-	32	4986	c.4987C>A	c.(4987-4989)Ctg>Atg	p.L1663M	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1663					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						TTCAAAGGCAGGGTTACTCCA	0.423																																						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.(4987-4989)Ctg>Atg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						175	180	179					11																	17111359		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.chr11:17111359G>T	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.4987C>A	11.37:g.17111359G>T	ENSP00000265970:p.Leu1663Met		Somatic				PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M|PIK3C2A_ENST00000531428.1_Intron	p.L1663M	NM_002645.2	NP_002636.2	WXS	Illumina GAIIx	Phase_I	O00443	P3C2A_HUMAN			32	4986	-			1663					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4987C>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503405	0.64298	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.13420	2.59;2.59	5.58	4.68	0.58851	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.063428	0.64402	D	0.000006	T	0.33411	0.0862	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.05257	-1.0896	10	0.72032	D	0.01	-5.9385	10.777	0.46356	0.1445:0.0:0.8555:0.0	.	1663	O00443	P3C2A_HUMAN	M	1663;1283	ENSP00000265970:L1663M;ENSP00000438687:L1283M	ENSP00000265970:L1663M	L	-	1	2	PIK3C2A	17067935	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.928000	0.63447	1.507000	0.48752	0.655000	0.94253	CTG		0.423	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	513	7	513	---	---	---	---	T	17111359	G	T	17111359	3	4	9	1	0	0	0	0	1	0	0	0	11909	991	35	1	77	1	PIK3C2A	11	17111359	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	7244201	17111359	117895157	533	772										
MRGPRX2	117194	broad.mit.edu	37	chr11	19077926	19077926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgttgtactttctgttccCcaggccggggtggttggatc	13	10	1	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.chr11:19077926C>A	ENST00000329773.2	-	2	111	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	8					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						TTTCTGTTCCCCAGGCCGGGG	0.502																																					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.(22-24)tgG>tgT		MAS-related GPR, member X2							177	195	189					11																	19077926		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077926C>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.24G>T	11.37:g.19077926C>A	ENSP00000333800:p.Trp8Cys		Somatic					p.W8C	NM_054030.2	NP_473371.1	WXS	Illumina GAIIx	Phase_I	Q96LB1	MRGX2_HUMAN			2	111	-			8					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.24G>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	13.25	2.181362	0.38511	.	.	ENSG00000183695	ENST00000329773	T	0.06608	3.28	5.04	-4.97	0.03029	.	2.017350	0.01934	N	0.041440	T	0.15089	0.0364	M	0.64404	1.975	0.09310	N	1	D	0.69078	0.997	P	0.61800	0.894	T	0.42447	-0.9451	10	0.41790	T	0.15	.	4.4213	0.11481	0.5111:0.2278:0.1894:0.0717	.	8	Q96LB1	MRGX2_HUMAN	C	8	ENSP00000333800:W8C	ENSP00000333800:W8C	W	-	3	0	MRGPRX2	19034502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.588000	0.05882	-0.140000	0.14226	TGG		0.502	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		9	517	9	517	---	---	---	---	A	19077926	C	A	19077926	3	1	9	1	0	0	0	0	1	0	0	0	9767	624	22	1	972	1	MRGPRX2	11	19077926	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1966567	19077926	115928590	534	773										
NAV2	89797	broad.mit.edu	37	chr11	20070636	20070636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctccctcagcagtggagGggtccccagccacaattctt	9	15	3	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.chr11:20070636G>T	ENST00000396087.3	+	16	4433	c.4334G>T	c.(4333-4335)gGg>gTg	p.G1445V	NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000396085.1_Missense_Mutation_p.G1422V|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1445	Ser-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						AGCAGTGGAGGGGTCCCCAGC	0.567																																						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.(4264-4266)gGg>gTg		neuron navigator 2							135	132	133					11																	20070636		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20070636G>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.4334G>T	11.37:g.20070636G>T	ENSP00000379396:p.Gly1445Val		Somatic				NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1445V	p.G1422V	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			15	4626	+			1445			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4265G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731748	0.48939	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.30448	1.59;1.69;1.69;1.65;1.53;1.53;3.22;1.83;3.22	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.49592	0.1566	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.964;0.998;0.956;1.0;1.0	T	0.15723	-1.0427	9	.	.	.	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	1422;1445;508;508;1422;1358	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	V	1358;1422;1422;1445;1374;1376;508;508;508;508	ENSP00000353871:G1358V;ENSP00000379394:G1422V;ENSP00000309577:G1422V;ENSP00000379396:G1445V;ENSP00000435395:G1374V;ENSP00000443489:G1376V;ENSP00000437316:G508V;ENSP00000437136:G508V;ENSP00000312169:G508V	.	G	+	2	0	NAV2	20027212	1.000000	0.71417	0.990000	0.47175	0.243000	0.25628	6.289000	0.72696	2.941000	0.99782	0.655000	0.94253	GGG		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		6	226	6	226	---	---	---	---	T	20070636	G	T	20070636	3	4	9	1	0	0	0	0	1	0	0	0	10184	1232	43	1	4432	1	NAV2	11	20070636	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	992710	20070636	114935880	535	774										
NAV2	89797	broad.mit.edu	37	chr11	20104694	20104694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgggtccacaggttccaccCcactgctgaggaattctcac	9	14	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.chr11:20104694C>A	ENST00000396087.3	+	29	5743	c.5644C>A	c.(5644-5646)Cca>Aca	p.P1882T	NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000396085.1_Missense_Mutation_p.P1826T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1882					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						AGGTTCCACCCCACTGCTGAG	0.488																																						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.(5476-5478)Cca>Aca		neuron navigator 2							154	137	143					11																	20104694		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20104694C>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.5644C>A	11.37:g.20104694C>A	ENSP00000379396:p.Pro1882Thr		Somatic				NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000396087.3_Missense_Mutation_p.P1882T	p.P1826T	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			27	5837	+			1882			Poly-Lys.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5476C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124829	0.56613	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.86	2.88	0.33553	.	0.088937	0.49305	D	0.000141	D	0.92776	0.7703	L	0.43923	1.385	0.48452	D	0.999652	B;P;B;D	0.53462	0.035;0.774;0.203;0.96	B;B;B;P	0.51742	0.017;0.236;0.039;0.678	D	0.90318	0.4342	9	.	.	.	.	17.078	0.86591	0.0:0.6435:0.3564:0.0	.	1826;887;1823;1759	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	T	1759;1826;1823;1882;1811;1813;887;887	ENSP00000353871:P1759T;ENSP00000379394:P1826T;ENSP00000309577:P1823T;ENSP00000379396:P1882T;ENSP00000435395:P1811T;ENSP00000443489:P1813T;ENSP00000437316:P887T;ENSP00000312169:P887T	.	P	+	1	0	NAV2	20061270	1.000000	0.71417	0.008000	0.14137	0.980000	0.70556	4.036000	0.57304	0.342000	0.23796	0.655000	0.94253	CCA		0.488	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		7	171	7	171	---	---	---	---	A	20104694	C	A	20104694	3	1	9	1	0	0	0	0	1	0	0	0	10184	623	22	1	5687	1	NAV2	11	20104694	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	34058	20104694	114901822	536	775										
ANO5	203859	broad.mit.edu	37	chr11	22296150	22296150	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttacgtcagacatcattccCcgtctagtttactactatgc	5	12	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.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757					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						ACATCATTCCCCGTCTAGTTT	0.358																																						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.(2269-2271)ccC>ccA		anoctamin 5							137	121	126					11																	22296150		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296150C>A	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.2271C>A	11.37:g.22296150C>A			Somatic				ANO5_ENST00000532043.1_3'UTR	p.P757P	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	WXS	Illumina GAIIx	Phase_I	Q75V66	ANO5_HUMAN			20	2588	+			757						Silent	SNP	ENST00000324559.8	37	c.2271C>A	CCDS31444.1																																																																																				0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		8	255	8	255	---	---	---	---	A	22296150	C	A	22296150	2	1	9	1	0	0	0	0	0	0	0	1	700	610	22	1		1	ANO5	11	22296150	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2191456	22296150	112710366	537	776										
EXT2	2132	broad.mit.edu	37	chr11	44146521	44146521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaccaggtcttcgattaccCacaggtgctacaggtgagtg	12	11	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.chr11:44146521C>A	ENST00000343631.3	+	5	1055	c.926C>A	c.(925-927)cCa>cAa	p.P309Q	EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000395673.3_Missense_Mutation_p.P342Q|EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	309					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						TTCGATTACCCACAGGTGCTA	0.488			"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	GRCh37	CD054333	EXT2	D		c.(1024-1026)cCa>cAa		exostosin glycosyltransferase 2							82	75	77					11																	44146521		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.chr11:44146521C>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.926C>A	11.37:g.44146521C>A	ENSP00000342656:p.Pro309Gln		Somatic				EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000343631.3_Missense_Mutation_p.P309Q	p.P342Q	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			5	1081	+			309					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1025C>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587702	0.86851	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	L	0.51422	1.61	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	0.99;0.999;0.998;0.999;0.999	D	0.96599	0.9443	10	0.25106	T	0.35	-15.387	20.0826	0.97783	0.0:1.0:0.0:0.0	.	309;309;309;309;322	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	Q	309;309;342;309	ENSP00000431173:P309Q;ENSP00000351509:P309Q;ENSP00000379032:P342Q;ENSP00000342656:P309Q	ENSP00000342656:P309Q	P	+	2	0	EXT2	44103097	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.300000	0.78841	2.746000	0.94184	0.655000	0.94253	CCA		0.488	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		5	135	5	135	---	---	---	---	A	44146521	C	A	44146521	3	1	9	1	0	0	0	0	1	0	0	0	5324	594	21	1	1043	1	EXT2	11	44146521	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	21850371	44146521	90859995	538	777										
PRDM11	56981	broad.mit.edu	37	chr11	45245859	45245859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctctctgtgctgagacaGggcaaaagtccctacaagcg	10	12	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.chr11:45245859G>T	ENST00000530656.1	+	7	936	c.936G>T	c.(934-936)caG>caT	p.Q312H	PRDM11_ENST00000263765.4_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H			Q9NQV5	PRD11_HUMAN	PR domain containing 11	312							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGAGACAGGGCAAAAGTC	0.507																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(934-936)caG>caT		PR domain containing 11							127	137	133					11																	45245859		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45245859G>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.936G>T	11.37:g.45245859G>T	ENSP00000435976:p.Gln312His		Somatic				PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|PRDM11_ENST00000530656.1_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA	p.Q312H			WXS	Illumina GAIIx	Phase_I	Q9NQV5	PRD11_HUMAN			8	1185	+			312					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.936G>T		.	.	.	.	.	.	.	.	.	.	G	11.54	1.667983	0.29604	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.49720	0.77;0.77;0.77	5.54	3.51	0.40186	.	0.113307	0.40222	N	0.001158	T	0.26557	0.0649	N	0.12182	0.205	0.30250	N	0.794128	B	0.14438	0.01	B	0.11329	0.006	T	0.10064	-1.0646	10	0.49607	T	0.09	-25.7442	7.504	0.27534	0.1523:0.0:0.6837:0.164	.	312	Q9NQV5	PRD11_HUMAN	H	312;312;278	ENSP00000263765:Q312H;ENSP00000435976:Q312H;ENSP00000394314:Q278H	ENSP00000263765:Q312H	Q	+	3	2	PRDM11	45202435	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.827000	0.27421	2.637000	0.89404	0.650000	0.86243	CAG		0.507	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		8	345	8	345	---	---	---	---	T	45245859	G	T	45245859	3	4	9	1	0	0	0	0	1	0	0	0	12452	991	35	1	962	1	PRDM11	11	45245859	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1099338	45245859	89760657	539	778										
NR1H3	10062	broad.mit.edu	37	chr11	47281462	47281462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgctgggggtactgcagGggtggggctggaggctgcag	21	8	1	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.chr11:47281462G>T	ENST00000467728.1	+	2	1402	c.164G>T	c.(163-165)gGg>gTg	p.G55V	NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	55					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						GGTACTGCAGGGGTGGGGCTG	0.657											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(163-165)gGg>gTg		nuclear receptor subfamily 1, group H, member 3							15	16	16					11																	47281462		2198	4294	6492	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.chr11:47281462G>T	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.164G>T	11.37:g.47281462G>T	ENSP00000420656:p.Gly55Val		Somatic	OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V	p.G55V			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			2	1402	+			55					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.164G>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	4.381	0.070352	0.08436	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000531660;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	D;D;D;T;T;T;T;T;D;T;T;T;T;T;T	0.92595	-2.81;-3.07;-2.96;0.67;0.83;0.67;0.67;0.67;-2.53;0.67;0.67;0.67;0.67;0.67;0.67	5.56	0.98	0.19750	.	1.458410	0.03739	N	0.254676	D	0.83252	0.5214	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.16396	0.001;0.0;0.017;0.001	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.69518	-0.5124	10	0.28530	T	0.3	.	1.0685	0.01616	0.2055:0.1805:0.4274:0.1865	.	61;55;10;55	B4DXU5;Q13133;E9PLL4;Q13133-2	.;NR1H3_HUMAN;.;.	V	10;10;10;55;10;55;55;55;10;55;55;55;55;55;55	ENSP00000378793:G10V;ENSP00000385073:G10V;ENSP00000433271:G10V;ENSP00000403798:G55V;ENSP00000434650:G10V;ENSP00000385801:G55V;ENSP00000391005:G55V;ENSP00000413095:G55V;ENSP00000412636:G10V;ENSP00000415591:G55V;ENSP00000387946:G55V;ENSP00000396132:G55V;ENSP00000403696:G55V;ENSP00000420656:G55V;ENSP00000384745:G55V	ENSP00000378793:G10V	G	+	2	0	NR1H3	47238038	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.038000	0.12144	0.677000	0.31305	0.462000	0.41574	GGG		0.657	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			4	31	4	31	---	---	---	---	T	47281462	G	T	47281462	3	4	9	1	0	0	0	0	1	0	0	0	10618	1232	43	1	170	1	NR1H3	11	47281462	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2035603	47281462	87725054	540	779										
MADD	8567	broad.mit.edu	37	chr11	47296695	47296695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcaagaaactgggcatccCtcgaggcgtacaaaggtaca	13	10	0	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.chr11:47296695C>A	ENST00000311027.5	+	3	809	c.644C>A	c.(643-645)cCt>cAt	p.P215H	MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000342922.4_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H	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)		CTGGGCATCCCTCGAGGCGTA	0.498																																						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.(643-645)cCt>cAt		MAP-kinase activating death domain							76	78	77					11																	47296695		2201	4298	6499	SO:0001583	missense	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.chr11:47296695C>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.644C>A	11.37:g.47296695C>A	ENSP00000310933:p.Pro215His		Somatic				MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000311027.5_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H	p.P215H	NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	1001	+			215			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.644C>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618928	0.66787	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05855	3.47;3.38;3.38;3.47;3.48;3.38;3.38;3.48;3.47	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.62723	1.935	0.80722	D	1	D;B;D;B;B;B;B;D;B;B	0.76494	0.971;0.034;0.98;0.168;0.027;0.013;0.05;0.999;0.061;0.171	P;B;D;B;B;B;B;D;B;B	0.66716	0.876;0.063;0.917;0.047;0.029;0.032;0.037;0.946;0.063;0.061	T	0.00029	-1.2292	9	.	.	.	-12.9701	20.0784	0.97758	0.0:1.0:0.0:0.0	.	215;215;215;215;215;215;215;215;215;215	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	215	ENSP00000343902:P215H;ENSP00000385585:P215H;ENSP00000384435:P215H;ENSP00000304505:P215H;ENSP00000310933:P215H;ENSP00000384204:P215H;ENSP00000378753:P215H;ENSP00000378745:P215H;ENSP00000384287:P215H	.	P	+	2	0	MADD	47253271	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.294000	0.78760	2.736000	0.93811	0.655000	0.94253	CCT		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			5	172	5	172	---	---	---	---	A	47296695	C	A	47296695	3	1	9	1	0	0	0	0	1	0	0	0	9152	681	24	1	650	1	MADD	11	47296695	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	15233	47296695	87709821	541	780										
MADD	8567	broad.mit.edu	37	chr11	47299747	47299747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaaccccgtacatcattgGggttcctgccagcttcttcc	7	16	2	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.chr11:47299747G>T	ENST00000311027.5	+	6	1292	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000342922.4_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V	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)		TACATCATTGGGGTTCCTGCC	0.458																																						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.(1126-1128)gGg>gTg		MAP-kinase activating death domain							247	242	244					11																	47299747		2201	4298	6499	SO:0001583	missense	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.chr11:47299747G>T	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.1127G>T	11.37:g.47299747G>T	ENSP00000310933:p.Gly376Val		Somatic				MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000311027.5_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V	p.G376V	NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	6	1484	+			376			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.1127G>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298814	0.95574	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	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	5.71	5.71	0.89125	DENN (3);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	H	0.95114	3.625	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;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.90978	0.4825	10	0.87932	D	0	-19.9701	19.8677	0.96824	0.0:0.0:1.0:0.0	.	376;376;376;376;376;376;376;376;376;376	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	376;376;154;376;376;376;376;376;376;376;376	ENSP00000343902:G376V;ENSP00000398167:G154V;ENSP00000385585:G376V;ENSP00000384435:G376V;ENSP00000304505:G376V;ENSP00000310933:G376V;ENSP00000384204:G376V;ENSP00000378753:G376V;ENSP00000378745:G376V;ENSP00000384287:G376V	ENSP00000310933:G376V	G	+	2	0	MADD	47256323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	GGG		0.458	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			8	502	8	502	---	---	---	---	T	47299747	G	T	47299747	3	4	9	1	0	0	0	0	1	0	0	0	9152	1232	43	1	1145	1	MADD	11	47299747	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3052	47299747	87706769	542	781										
CELF1	10658	broad.mit.edu	37	chr11	47508712	47508712	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagtgggagctttcttaccCctgggaggactttcatgttg	12	9	2	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.chr11:47508712C>A	ENST00000358597.3	-	2	259	c.260G>T	c.(259-261)gGg>gTg	p.G87V	CELF1_ENST00000395290.2_Splice_Site_p.G87V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000361904.3_Splice_Site_p.G87V|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	87	RRM 1. {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						CTTTCTTACCCCTGGGAGGAC	0.388																																					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.(259-261)gGg>gTg		CUGBP, Elav-like family member 1							103	107	106					11																	47508712		2201	4298	6499	SO:0001630	splice_region_variant	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.chr11:47508712C>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.261+1G>T	11.37:g.47508712C>A			Somatic				CELF1_ENST00000358597.3_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V	p.G87V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	WXS	Illumina GAIIx	Phase_I	Q92879	CELF1_HUMAN			2	269	-			87			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Splice_Site	SNP	ENST00000358597.3	37	c.260G>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241678	0.95272	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841	T;T;T;T;T;T;T;T;T;T	0.58210	1.62;1.64;2.05;2.07;2.05;1.6;1.58;2.44;0.35;0.96	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.91300	3.195	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;0.997;0.998;0.998;0.998;0.999	T	0.83259	-0.0049	10	0.87932	D	0	-6.3608	20.5948	0.99439	0.0:1.0:0.0:0.0	.	87;114;114;87;87;87	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	V	87;87;87;87;87;114;114;87;114;87	ENSP00000378705:G87V;ENSP00000351409:G87V;ENSP00000378706:G87V;ENSP00000308386:G87V;ENSP00000354639:G87V;ENSP00000436864:G114V;ENSP00000435926:G114V;ENSP00000433986:G87V;ENSP00000435320:G114V;ENSP00000436191:G87V	ENSP00000308386:G87V	G	-	2	0	CELF1	47465288	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.666000	0.83877	2.873000	0.98535	0.563000	0.77884	GGG		0.388	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	Missense_Mutation	6	305	6	305	---	---	---	---	A	47508712	C	A	47508712	5	1	9	1	0	0	0	0	0	0	1	0	3215	637	22	1	1247	1	CELF1	11	47508712	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	208965	47508712	87497804	543	782										
OR4C12	283093	broad.mit.edu	37	chr11	50003461	50003461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagcaacaaagagaccaaGggtatgagtgtctatgcaaa	10	8	1	2	rs377698711		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.chr11:50003461G>T	ENST00000335238.4	-	1	610	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	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)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGACCAAGGGTATGAGTG	0.408																																						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.(577-579)Ctt>Att		olfactory receptor, family 4, subfamily C, member 12		G	ILE/LEU	1,4401		0,1,2200	101	101	101		577	3	0.9	11		101	0,8592		0,0,4296	no	missense	OR4C12	NM_001005270.2	5	0,1,6496	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	193/310	50003461	1,12993	2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003461G>T	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.577C>A	11.37:g.50003461G>T	ENSP00000334418:p.Leu193Ile		Somatic					p.L193I	NM_001005270.2	NP_001005270.2	WXS	Illumina GAIIx	Phase_I	Q96R67	OR4CC_HUMAN			1	610	-			193					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.577C>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	9.252	1.040937	0.19669	2.27E-4	0.0	ENSG00000221954	ENST00000335238	T	0.00107	8.72	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.202088	0.24085	U	0.041697	T	0.00109	0.0003	N	0.04705	-0.18	0.24790	N	0.992768	P	0.51147	0.942	P	0.55161	0.77	T	0.51012	-0.8759	10	0.02654	T	1	.	8.2721	0.31851	0.0:0.2467:0.7533:0.0	.	193	Q96R67	OR4CC_HUMAN	I	193	ENSP00000334418:L193I	ENSP00000334418:L193I	L	-	1	0	OR4C12	49960037	0.000000	0.05858	0.930000	0.37139	0.639000	0.38242	-0.150000	0.10189	1.698000	0.51180	0.398000	0.26397	CTT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		5	151	5	151	---	---	---	---	T	50003461	G	T	50003461	3	4	9	1	0	0	0	0	1	0	0	0	11046	1000	35	1	356	1	OR4C12	11	50003461	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2494749	50003461	85003055	544	783										
OR5T3	390154	broad.mit.edu	37	chr11	56020461	56020461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaagatgcattctgctaaGggaaggcaaaaggccttctc	11	9	2	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.chr11:56020461G>T	ENST00000303059.3	+	1	786	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K262N(1)		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)					ATTCTGCTAAGGGAAGGCAAA	0.413																																						ENST00000303059.3																			1	Substitution - Missense(1)	p.K262N(1)	lung(1)	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.(784-786)aaG>aaT		olfactory receptor, family 5, subfamily T, member 3							224	203	210					11																	56020461		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020461G>T	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.786G>T	11.37:g.56020461G>T	ENSP00000305403:p.Lys262Asn		Somatic					p.K262N	NM_001004747.1	NP_001004747.1	WXS	Illumina GAIIx	Phase_I	Q8NGG3	OR5T3_HUMAN			1	786	+	Esophageal squamous(21;0.00448)		262					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.786G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	5.637	0.302139	0.10678	.	.	ENSG00000172489	ENST00000303059	T	0.00145	8.67	4.65	0.997	0.19851	GPCR, rhodopsin-like superfamily (1);	0.290027	0.24285	N	0.039874	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	B	0.26512	0.151	B	0.35770	0.21	T	0.33701	-0.9858	10	0.87932	D	0	.	4.6293	0.12493	0.408:0.0:0.4288:0.1632	.	262	Q8NGG3	OR5T3_HUMAN	N	262	ENSP00000305403:K262N	ENSP00000305403:K262N	K	+	3	2	OR5T3	55777037	0.000000	0.05858	0.620000	0.29132	0.009000	0.06853	-0.617000	0.05584	0.061000	0.16311	-0.323000	0.08544	AAG		0.413	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		8	470	8	470	---	---	---	---	T	56020461	G	T	56020461	3	4	9	1	0	0	0	0	1	0	0	0	11183	991	35	1	788	1	OR5T3	11	56020461	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6017000	56020461	78986055	545	784										
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077242	57077242	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggctgaacccagagctcagGggtctcgttccaaagcttct	12	12	3	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.chr11:57077242G>T	ENST00000532437.1	-	5	3254	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	TNKS1BP1_ENST00000358252.3_Silent_p.P981P|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	981	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)				CAGAGCTCAGGGGTCTCGTTC	0.567																																						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.(2941-2943)ccC>ccA		tankyrase 1 binding protein 1, 182kDa							75	79	77					11																	57077242		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.chr11:57077242G>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.2943C>A	11.37:g.57077242G>T			Somatic				TNKS1BP1_ENST00000358252.3_Silent_p.P981P	p.P981P			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	3254	-		all_epithelial(135;0.21)	981			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2943C>A	CCDS7951.1																																																																																				0.567	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	167	8	167	---	---	---	---	T	57077242	G	T	57077242	2	4	9	1	0	0	0	0	0	0	0	1	16317	1219	43	1		1	TNKS1BP1	11	57077242	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1056781	57077242	77929274	546	785										
OR5A1	219982	broad.mit.edu	37	chr11	59211048	59211048	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccagcccccttctctaccCcactatcatgacccagggcc	5	21	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.chr11:59211048C>A	ENST00000302030.2	+	1	432	c.407C>A	c.(406-408)cCc>cAc	p.P136H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136						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						CTTCTCTACCCCACTATCATG	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.(406-408)cCc>cAc		olfactory receptor, family 5, subfamily A, member 1							263	245	251					11																	59211048		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211048C>A	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.407C>A	11.37:g.59211048C>A	ENSP00000303096:p.Pro136His		Somatic					p.P136H	NM_001004728.1	NP_001004728.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ0	OR5A1_HUMAN			1	432	+			136					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.407C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998611	0.19121	.	.	ENSG00000172320	ENST00000302030	T	0.02345	4.33	5.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.764123	0.11524	N	0.555377	T	0.03263	0.0095	L	0.28504	0.86	0.09310	N	1	B	0.26081	0.141	B	0.29942	0.109	T	0.44205	-0.9343	10	0.66056	D	0.02	-2.2447	7.4588	0.27283	0.0:0.7155:0.1381:0.1464	.	136	Q8NGJ0	OR5A1_HUMAN	H	136	ENSP00000303096:P136H	ENSP00000303096:P136H	P	+	2	0	OR5A1	58967624	0.000000	0.05858	0.107000	0.21349	0.522000	0.34438	-0.400000	0.07241	0.812000	0.34326	0.650000	0.86243	CCC		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		11	505	11	505	---	---	---	---	A	59211048	C	A	59211048	3	1	9	1	0	0	0	0	1	0	0	0	11139	623	22	1	409	1	OR5A1	11	59211048	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2133806	59211048	75795468	547	786										
C11orf66	220004	broad.mit.edu	37	chr11	61254627	61254627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttgtgcaggagcccacaGggttcagccttaacaacccc	9	15	2	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.chr11:61254627G>T	ENST00000338608.2	+	11	1083	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	PPP1R32_ENST00000538185.1_5'Flank|PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W|PPP1R32_ENST00000366212.4_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	320							phosphatase binding (GO:0019902)	p.G320R(1)									GGAGCCCACAGGGTTCAGCCT	0.562																																						ENST00000338608.2																			1	Substitution - Missense(1)	p.G320R(1)	ovary(1)								c.(958-960)Ggg>Tgg		protein phosphatase 1, regulatory subunit 32							178	176	177					11																	61254627		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61254627G>T	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.958G>T	11.37:g.61254627G>T	ENSP00000344140:p.Gly320Trp		Somatic				PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W	p.G320W	NM_145017.2	NP_659454.2	WXS	Illumina GAIIx	Phase_I	Q7Z5V6	CK066_HUMAN			11	1083	+			320					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.958G>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098228	0.56183	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000542951;ENST00000535545	T;T;T;T	0.67865	-0.29;0.17;0.54;0.49	4.69	4.69	0.59074	.	0.177207	0.37261	N	0.002169	T	0.82001	0.4942	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.84923	0.0855	10	0.87932	D	0	-9.5621	14.9191	0.70822	0.0:0.0:1.0:0.0	.	300;320	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	W	300;320;71;87	ENSP00000391560:G300W;ENSP00000344140:G320W;ENSP00000441053:G71W;ENSP00000437511:G87W	ENSP00000344140:G320W	G	+	1	0	C11orf66	61011203	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	4.783000	0.62403	2.311000	0.77944	0.609000	0.83330	GGG		0.562	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		6	354	6	354	---	---	---	---	T	61254627	G	T	61254627	3	4	9	1	0	0	0	0	1	0	0	0	1656	1000	35	1	996	1	C11orf66	11	61254627	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2043579	61254627	73751889	548	787										
BEST1	7439	broad.mit.edu	37	chr11	61730039	61730039	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacagtgccccacagacgccCctcagccccactcccatgtt	6	20	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.chr11:61730039C>A	ENST00000378043.4	+	10	2056	c.1413C>A	c.(1411-1413)ccC>ccA	p.P471P	BEST1_ENST00000301774.9_Silent_p.P99P|BEST1_ENST00000378042.3_Silent_p.P384P|BEST1_ENST00000449131.2_Silent_p.P411P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	471					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						CACAGACGCCCCTCAGCCCCA	0.552																																						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.(1231-1233)ccC>ccA		bestrophin 1							80	77	78					11																	61730039		2202	4299	6501	SO:0001819	synonymous_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730039C>A	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.1413C>A	11.37:g.61730039C>A			Somatic				BEST1_ENST00000378042.3_Silent_p.P384P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Silent_p.P471P|BEST1_ENST00000301774.9_Silent_p.P99P	p.P411P	NM_001139443.1	NP_001132915.1	WXS	Illumina GAIIx	Phase_I	O76090	BEST1_HUMAN			9	1319	+			471					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	c.1233C>A	CCDS31580.1																																																																																				0.552	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		5	84	5	84	---	---	---	---	A	61730039	C	A	61730039	2	1	9	1	0	0	0	0	0	0	0	1	1404	610	22	1		1	BEST1	11	61730039	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	475412	61730039	73276477	549	788										
SCGB2A2	4250	broad.mit.edu	37	chr11	62038408	62038408	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagacaatcaatccacaagtGtctaagactgaatacaaaga	6	8	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.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			Somatic				SCGB2A2_ENST00000227918.2_Silent_p.V37V	p.V37V			WXS	Illumina GAIIx	Phase_I	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	55	128	---	---	---	---	C	62038408	G	C	62038408	2	2	9	1	0	0	0	0	0	0	0	1	13900	1364	48	4		4	SCGB2A2	11	62038408	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	308369	62038408	72968108	550	789										
AHNAK	79026	broad.mit.edu	37	chr11	62287590	62287590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatgaacatccacatcagGggtgttgatgtccacttttg	10	10	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.chr11:62287590G>T	ENST00000378024.4	-	5	14573	c.14299C>A	c.(14299-14301)Cct>Act	p.P4767T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4767					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)				TCCACATCAGGGGTGTTGATG	0.517																																						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.(14299-14301)Cct>Act		AHNAK nucleoprotein							198	191	193					11																	62287590		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287590G>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.14299C>A	11.37:g.62287590G>T	ENSP00000367263:p.Pro4767Thr		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4767T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	14573	-		Melanoma(852;0.155)	4767					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14299C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118787	0.20877	.	.	ENSG00000124942	ENST00000378024	T	0.03181	4.02	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000193	T	0.29652	0.0740	H	0.96861	3.895	0.33146	D	0.545079	D	0.89917	1.0	D	0.91635	0.999	T	0.60151	-0.7319	10	0.38643	T	0.18	-0.6609	16.6222	0.84933	0.0:0.0:1.0:0.0	.	4767	Q09666	AHNK_HUMAN	T	4767	ENSP00000367263:P4767T	ENSP00000367263:P4767T	P	-	1	0	AHNAK	62044166	.	.	0.859000	0.33776	0.022000	0.10575	.	.	2.206000	0.71126	0.478000	0.44815	CCT		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	335	7	335	---	---	---	---	T	62287590	G	T	62287590	3	4	9	1	0	0	0	0	1	0	0	0	414	1232	43	1	3493	1	AHNAK	11	62287590	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	249182	62287590	72718926	551	790										
AHNAK	79026	broad.mit.edu	37	chr11	62292624	62292624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcaggcatggagatcttggGggctttgatgttcatctcag	14	7	4	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.chr11:62292624G>T	ENST00000378024.4	-	5	9539	c.9265C>A	c.(9265-9267)Ccc>Acc	p.P3089T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3089					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)				GAGATCTTGGGGGCTTTGATG	0.458																																						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.(9265-9267)Ccc>Acc		AHNAK nucleoprotein							203	215	211					11																	62292624		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292624G>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.9265C>A	11.37:g.62292624G>T	ENSP00000367263:p.Pro3089Thr		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3089T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	9539	-		Melanoma(852;0.155)	3089					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9265C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	14.79	2.640419	0.47153	.	.	ENSG00000124942	ENST00000378024	T	0.04706	3.57	4.48	4.48	0.54585	.	.	.	.	.	T	0.30262	0.0759	H	0.94771	3.58	0.35594	D	0.807299	D	0.89917	1.0	D	0.85130	0.997	T	0.56294	-0.8003	9	0.45353	T	0.12	-3.859	14.9206	0.70835	0.0:0.0:1.0:0.0	.	3089	Q09666	AHNK_HUMAN	T	3089	ENSP00000367263:P3089T	ENSP00000367263:P3089T	P	-	1	0	AHNAK	62049200	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.808000	0.62583	2.021000	0.59480	0.305000	0.20034	CCC		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	543	12	543	---	---	---	---	T	62292624	G	T	62292624	3	4	9	1	0	0	0	0	1	0	0	0	414	1232	43	1	8527	1	AHNAK	11	62292624	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5034	62292624	72713892	552	791										
AHNAK	79026	broad.mit.edu	37	chr11	62294419	62294419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttacatcaactttggggccCctgatgttcatatctggtac	8	10	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.chr11:62294419C>A	ENST00000378024.4	-	5	7744	c.7470G>T	c.(7468-7470)agG>agT	p.R2490S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					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)				CTTTGGGGCCCCTGATGTTCA	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.(7468-7470)agG>agT		AHNAK nucleoprotein							149	153	152					11																	62294419		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294419C>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.7470G>T	11.37:g.62294419C>A	ENSP00000367263:p.Arg2490Ser		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.R2490S	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	7744	-		Melanoma(852;0.155)	2490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7470G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.390292	0.01185	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05139	3.49	4.36	-4.32	0.03688	.	.	.	.	.	T	0.03053	0.0090	N	0.04063	-0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	9	0.72032	D	0.01	.	10.1596	0.42844	0.0:0.2432:0.1065:0.6503	.	2490	Q09666	AHNK_HUMAN	S	579;2490	ENSP00000367263:R2490S	ENSP00000244934:R579S	R	-	3	2	AHNAK	62050995	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-4.631000	0.00206	-1.026000	0.03330	-0.309000	0.09137	AGG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	300	6	300	---	---	---	---	A	62294419	C	A	62294419	3	1	9	1	0	0	0	0	1	0	0	0	414	622	22	1	10322	1	AHNAK	11	62294419	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1795	62294419	72712097	553	792										
AHNAK	79026	broad.mit.edu	37	chr11	62294886	62294886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taactctccctccagctttgGggcagaaacatcaacatctc	6	14	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.chr11:62294886G>T	ENST00000378024.4	-	5	7277	c.7003C>A	c.(7003-7005)Cca>Aca	p.P2335T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2335					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)				TCCAGCTTTGGGGCAGAAACA	0.458																																						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.(7003-7005)Cca>Aca		AHNAK nucleoprotein							122	135	130					11																	62294886		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294886G>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.7003C>A	11.37:g.62294886G>T	ENSP00000367263:p.Pro2335Thr		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2335T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	7277	-		Melanoma(852;0.155)	2335					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7003C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901142	0.52227	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.27890	1.64	3.73	2.81	0.32909	.	0.000000	0.40640	N	0.001058	T	0.64983	0.2648	H	0.96547	3.84	0.39959	D	0.97463	D	0.89917	1.0	D	0.85130	0.997	T	0.73962	-0.3817	10	0.72032	D	0.01	-6.8299	10.8489	0.46759	0.0961:0.0:0.9039:0.0	.	2335	Q09666	AHNK_HUMAN	T	424;2335	ENSP00000367263:P2335T	ENSP00000244934:P424T	P	-	1	0	AHNAK	62051462	0.997000	0.39634	0.004000	0.12327	0.890000	0.51754	3.640000	0.54350	0.690000	0.31570	0.291000	0.19559	CCA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	476	8	476	---	---	---	---	T	62294886	G	T	62294886	3	4	9	1	0	0	0	0	1	0	0	0	414	1232	43	1	10789	1	AHNAK	11	62294886	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	467	62294886	72711630	554	793										
AHNAK	79026	broad.mit.edu	37	chr11	62295786	62295786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatgaacatccacatctgGggcatcaatgtccattttgg	9	11	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.chr11:62295786G>T	ENST00000378024.4	-	5	6377	c.6103C>A	c.(6103-6105)Cca>Aca	p.P2035T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2035					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)				TCCACATCTGGGGCATCAATG	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.(6103-6105)Cca>Aca		AHNAK nucleoprotein							321	318	319					11																	62295786		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295786G>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.6103C>A	11.37:g.62295786G>T	ENSP00000367263:p.Pro2035Thr		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2035T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	6377	-		Melanoma(852;0.155)	2035					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6103C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833030	0.32421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02863	4.13	3.9	3.9	0.45041	.	0.000000	0.34531	U	0.003899	T	0.26048	0.0635	H	0.97874	4.095	0.31252	N	0.693959	D	0.71674	0.998	D	0.68943	0.961	T	0.57985	-0.7716	10	0.66056	D	0.02	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2035	Q09666	AHNK_HUMAN	T	124;2035	ENSP00000367263:P2035T	ENSP00000244934:P124T	P	-	1	0	AHNAK	62052362	1.000000	0.71417	0.688000	0.30117	0.428000	0.31595	7.052000	0.76634	1.723000	0.51488	0.298000	0.19748	CCA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	682	10	682	---	---	---	---	T	62295786	G	T	62295786	3	4	9	1	0	0	0	0	1	0	0	0	414	1232	43	1	11689	1	AHNAK	11	62295786	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	900	62295786	72710730	555	794										
EML3	256364	broad.mit.edu	37	chr11	62375763	62375763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accacacaaagaaaggcaccCtgatcctgaagaagggtgac	10	11	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.chr11:62375763C>A	ENST00000394773.2	-	10	1423	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	EML3_ENST00000278845.4_Missense_Mutation_p.Q373H|EML3_ENST00000438258.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000529309.1_Missense_Mutation_p.Q372H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	372						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Q372H(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						GAAAGGCACCCTGATCCTGAA	0.532																																						ENST00000394773.2																			1	Substitution - Missense(1)	p.Q372H(1)	lung(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.(1114-1116)caG>caT		echinoderm microtubule associated protein like 3							175	164	167					11																	62375763		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62375763C>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.1116G>T	11.37:g.62375763C>A	ENSP00000378254:p.Gln372His		Somatic				EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H	p.Q372H	NM_153265.2	NP_694997.2	WXS	Illumina GAIIx	Phase_I	Q32P44	EMAL3_HUMAN			10	1423	-			372					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1116G>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.11|12.11	1.838659|1.838659	0.32513|0.32513	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.42513	.|1.03;1.03;0.97;0.97;0.97	6.04|6.04	-0.465|-0.465	0.12157|0.12157	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.386434	.|0.28042	.|N	.|0.016822	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11427|0.11427	0.14|0.14	0.32361|0.32361	N|N	0.557201|0.557201	.|B;B;B;B;B	.|0.15141	.|0.012;0.002;0.0;0.003;0.001	.|B;B;B;B;B	.|0.15052	.|0.012;0.003;0.0;0.001;0.005	T|T	0.03933|0.03933	-1.0991|-1.0991	5|10	.|0.66056	.|D	.|0.02	-12.4761|-12.4761	1.5887|1.5887	0.02650|0.02650	0.1357:0.3335:0.1325:0.3983|0.1357:0.3335:0.1325:0.3983	.|.	.|372;372;155;373;344	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	W|H	367|372;373;155;344;372	.|ENSP00000378254:Q372H;ENSP00000278845:Q373H;ENSP00000433417:Q155H;ENSP00000435064:Q344H;ENSP00000434513:Q372H	.|ENSP00000278845:Q373H	G|Q	-|-	1|3	0|2	EML3|EML3	62132339|62132339	0.001000|0.001000	0.12720|0.12720	0.995000|0.995000	0.50966|0.50966	0.870000|0.870000	0.49936|0.49936	-0.492000|-0.492000	0.06467|0.06467	-0.053000|-0.053000	0.13289|0.13289	0.563000|0.563000	0.77884|0.77884	GGG|CAG		0.532	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		6	259	6	259	---	---	---	---	A	62375763	C	A	62375763	3	1	9	1	0	0	0	0	1	0	0	0	5098	680	24	1	1626	1	EML3	11	62375763	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	79977	62375763	72630753	556	795										
RARRES3	5920	broad.mit.edu	37	chr11	63312350	63312350	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgagatatggcaagtccCgctgtaaacaggtaaggacc	12	9	0	1	rs201927922		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.chr11:63312350C>A	ENST00000255688.3	+	3	424	c.376C>A	c.(376-378)Cgc>Agc	p.R126S	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000439013.2_Missense_Mutation_p.R126S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	126					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)	p.R126S(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGGCAAGTCCCGCTGTAAACA	0.517																																						ENST00000439013.2																			1	Substitution - Missense(1)	p.R126S(1)	lung(1)	kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(376-378)Cgc>Agc		retinoic acid receptor responder (tazarotene induced) 3							156	154	155					11																	63312350		2043	4201	6244	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312350C>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.376C>A	11.37:g.63312350C>A	ENSP00000255688:p.Arg126Ser		Somatic				RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000255688.3_Missense_Mutation_p.R126S	p.R126S			WXS	Illumina GAIIx	Phase_I	Q9UL19	TIG3_HUMAN			3	429	+			126					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.376C>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693568	0.30052	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.31247	1.51;1.5;1.52	3.93	-7.86	0.01187	NC (1);	1.493990	0.04128	N	0.317519	T	0.23014	0.0556	L	0.57536	1.79	0.09310	N	1	B	0.32010	0.351	B	0.29785	0.107	T	0.07385	-1.0775	10	0.52906	T	0.07	.	1.5969	0.02666	0.4609:0.1047:0.1628:0.2716	.	126	Q9UL19	TIG3_HUMAN	S	126	ENSP00000402943:R126S;ENSP00000255688:R126S;ENSP00000346431:R126S	ENSP00000255688:R126S	R	+	1	0	RARRES3	63068926	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.975000	0.00164	-3.236000	0.00208	-0.882000	0.02950	CGC		0.517	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			5	287	5	287	---	---	---	---	A	63312350	C	A	63312350	3	1	9	1	0	0	0	0	1	0	0	0	13057	652	23	1	386	1	RARRES3	11	63312350	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	936587	63312350	71694166	557	796										
BAD	572	broad.mit.edu	37	chr11	64037705	64037705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggagggggcggagcttccCctgcccaagttccgatccca	14	14	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.chr11:64037705C>A	ENST00000394532.3	-	3	753	c.483G>T	c.(481-483)agG>agT	p.R161S	BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	161					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|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)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGGAGCTTCCCCTGCCCAAGT	0.627																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(481-483)agG>agT		BCL2-associated agonist of cell death							81	71	74					11																	64037705		2201	4297	6498	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037705C>A	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.483G>T	11.37:g.64037705C>A	ENSP00000378040:p.Arg161Ser		Somatic				BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	p.R161S	NM_004322.3	NP_004313.1	WXS	Illumina GAIIx	Phase_I	Q92934	BAD_HUMAN			3	753	-			161					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.483G>T	CCDS8065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.874981|2.874981	0.51695|0.51695	.|.	.|.	ENSG00000002330|ENSG00000002330	ENST00000544785|ENST00000394532;ENST00000309032	.|T;T	.|0.45668	.|0.89;0.89	4.97|4.97	1.39|1.39	0.22231|0.22231	.|.	.|0.388571	.|0.29266	.|N	.|0.012647	T|T	0.36193|0.36193	0.0958|0.0958	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P	.|0.37914	.|0.611	.|B	.|0.38378	.|0.272	T|T	0.10917|0.10917	-1.0609|-1.0609	6|10	0.87932|0.62326	D|D	0|0.03	-2.9686|-2.9686	6.9916|6.9916	0.24758|0.24758	0.0:0.2245:0.0:0.7755|0.0:0.2245:0.0:0.7755	.|.	.|161	.|Q92934	.|BAD_HUMAN	W|S	98|161	.|ENSP00000378040:R161S;ENSP00000309103:R161S	ENSP00000440575:G98W|ENSP00000309103:R161S	G|R	-|-	1|3	0|2	BAD|BAD	63794281|63794281	0.108000|0.108000	0.22018|0.22018	0.874000|0.874000	0.34290|0.34290	0.739000|0.739000	0.42172|0.42172	0.216000|0.216000	0.17585|0.17585	0.073000|0.073000	0.16731|0.16731	-0.136000|-0.136000	0.14681|0.14681	GGG|AGG		0.627	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		5	74	5	74	---	---	---	---	A	64037705	C	A	64037705	3	1	9	1	0	0	0	0	1	0	0	0	1285	622	22	1	27	1	BAD	11	64037705	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	725355	64037705	70968811	558	797										
GPR137	56834	broad.mit.edu	37	chr11	64055537	64055537	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgttgttacctgtgccagGggaccagtgtgtgccaggcg	15	10	1	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.chr11:64055537G>T	ENST00000313074.3	+	4	739	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	GPR137_ENST00000438980.2_Splice_Site_p.G212W|GPR137_ENST00000539851.1_Splice_Site_p.G212W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000411458.1_Splice_Site_p.G270W	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTGTGCCAGGGGACCAGTGT	0.642																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(634-636)Ggg>Tgg		G protein-coupled receptor 137							45	51	49					11																	64055537		2198	4296	6494	SO:0001630	splice_region_variant	56834					integral to membrane		g.chr11:64055537G>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.634-1G>T	11.37:g.64055537G>T			Somatic				GPR137_ENST00000313074.3_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W	p.G212W	NM_001177358.1	NP_001170829.1	WXS	Illumina GAIIx	Phase_I	Q96N19	G137A_HUMAN			5	1101	+			212					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Splice_Site	SNP	ENST00000313074.3	37	c.634G>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835696	0.71373	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000543383;ENST00000438980;ENST00000313074;ENST00000541952	T;T;T;T;T	0.54866	0.55;0.65;0.65;0.6;0.57	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	L	0.48362	1.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.984;1.0	T	0.62676	-0.6804	9	.	.	.	-22.2991	13.5182	0.61553	0.0:0.0:1.0:0.0	.	212;270;218;212;212	B7Z7M1;B4DTG7;F5H234;Q96N19-2;Q96N19	.;.;.;.;G137A_HUMAN	W	218;270;212;212;212;212;212;149	ENSP00000411827:G270W;ENSP00000442792:G212W;ENSP00000441003:G212W;ENSP00000415698:G212W;ENSP00000321698:G212W	.	G	+	1	0	GPR137	63812113	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.207000	0.95064	2.329000	0.79093	0.561000	0.74099	GGG		0.642	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155	Missense_Mutation	5	112	5	112	---	---	---	---	T	64055537	G	T	64055537	5	4	9	1	0	0	0	0	0	0	1	0	6645	1246	43	1	830	1	GPR137	11	64055537	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	17832	64055537	70950979	559	798										
NRXN2	9379	broad.mit.edu	37	chr11	64427831	64427831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacagtgagcttcatctgccCcccatccagctccaggcgta	9	16	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.chr11:64427831C>A	ENST00000377551.1	-	10	2573	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W	NRXN2_ENST00000265459.6_Missense_Mutation_p.G788W|NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W|NRXN2_ENST00000496291.1_5'Flank|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	788	Laminin G-like 4. {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						TTCATCTGCCCCCCATCCAGC	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.(2362-2364)Ggg>Tgg		neurexin 2							155	137	143					11																	64427831		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64427831C>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.2362G>T	11.37:g.64427831C>A	ENSP00000366774:p.Gly788Trp		Somatic				NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G788W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W	p.G788W	NM_015080.3	NP_055895.1	WXS	Illumina GAIIx	Phase_I	Q9P2S2	NRX2A_HUMAN			11	2823	-			788			Laminin G-like 4.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2362G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543808	0.86022	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.40385	U	0.001106	D	0.95082	0.8407	M	0.90198	3.095	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	0.95916	0.8927	10	0.87932	D	0	.	14.2418	0.65961	0.0:1.0:0.0:0.0	.	757;788;534	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	W	788;757;788;757;781	ENSP00000366774:G788W;ENSP00000366782:G757W;ENSP00000265459:G788W;ENSP00000386416:G781W	ENSP00000265459:G788W	G	-	1	0	NRXN2	64184407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.216000	0.71823	0.655000	0.94253	GGG		0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	115	5	115	---	---	---	---	A	64427831	C	A	64427831	3	1	9	1	0	0	0	0	1	0	0	0	10666	623	22	1	3097	1	NRXN2	11	64427831	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	372294	64427831	70578685	560	799										
PYGM	5837	broad.mit.edu	37	chr11	64525943	64525943	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcccccgttgcccagcccCgcatcctcctcaatttcctc	6	21	1	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.chr11:64525943C>A	ENST00000164139.3	-	3	788	c.390G>T	c.(388-390)gcG>gcT	p.A130A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	130					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						TGCCCAGCCCCGCATCCTCCT	0.652																																						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						c.(388-390)gcG>gcT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						70	84	79					11																	64525943		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525943C>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.390G>T	11.37:g.64525943C>A			Somatic				PYGM_ENST00000377432.3_Intron	p.A130A	NM_005609.2	NP_005600.1	WXS	Illumina GAIIx	Phase_I	P11217	PYGM_HUMAN			3	788	-			130					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.390G>T	CCDS8079.1																																																																																				0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		5	163	5	163	---	---	---	---	A	64525943	C	A	64525943	2	1	9	1	0	0	0	0	0	0	0	1	12862	639	23	1		1	PYGM	11	64525943	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	98112	64525943	70480573	561	800										
SF1	7536	broad.mit.edu	37	chr11	64537846	64537846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgggtgttaagccgcttccCctcgctattgtagatgggct	12	11	0	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.chr11:64537846C>A	ENST00000377390.3	-	4	608	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000334944.5_Missense_Mutation_p.G91W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	91					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						AGCCGCTTCCCCTCGCTATTG	0.532																																						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.(271-273)Ggg>Tgg		splicing factor 1							98	99	99					11																	64537846		2201	4297	6498	SO:0001583	missense	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.chr11:64537846C>A	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.271G>T	11.37:g.64537846C>A	ENSP00000366607:p.Gly91Trp		Somatic				SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G91W	p.G91W	NM_004630.3	NP_004621.2	WXS	Illumina GAIIx	Phase_I	Q15637	SF01_HUMAN			4	608	-			91					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.271G>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986708	0.74589	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.76316	-1.01;-0.9;-0.85;-0.55;-0.92;-0.89	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	M	0.89968	3.075	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;0.999;1.0;1.0	D	0.91813	0.5461	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	91;91;91;91;216	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	W	216;91;91;91;91;65	ENSP00000366604:G216W;ENSP00000366607:G91W;ENSP00000227503:G91W;ENSP00000366611:G91W;ENSP00000334414:G91W;ENSP00000396793:G65W	ENSP00000227503:G91W	G	-	1	0	SF1	64294422	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.433000	0.80362	2.748000	0.94277	0.462000	0.41574	GGG		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		5	188	5	188	---	---	---	---	A	64537846	C	A	64537846	3	1	9	1	0	0	0	0	1	0	0	0	14145	623	22	1	1826	1	SF1	11	64537846	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	11903	64537846	70468670	562	801										
ATG2A	23130	broad.mit.edu	37	chr11	64676776	64676776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttgcgcccagtgctcttgGggtccagggctttggagaca	14	11	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.chr11:64676776G>T	ENST00000377264.3	-	15	2283	c.2171C>A	c.(2170-2172)cCc>cAc	p.P724H	ATG2A_ENST00000421419.2_Missense_Mutation_p.P724H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	724					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						AGTGCTCTTGGGGTCCAGGGC	0.617																																						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.(2170-2172)cCc>cAc		autophagy related 2A							56	56	56					11																	64676776		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64676776G>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.2171C>A	11.37:g.64676776G>T	ENSP00000366475:p.Pro724His		Somatic				ATG2A_ENST00000377264.3_Missense_Mutation_p.P724H	p.P724H			WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			15	2285	-			724					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2171C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042593	0.75732	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06849	3.25;3.25	5.29	5.29	0.74685	.	0.279015	0.31797	N	0.007054	T	0.20210	0.0486	L	0.50333	1.59	0.44268	D	0.997121	D	0.69078	0.997	P	0.59012	0.85	T	0.00128	-1.2018	10	0.40728	T	0.16	.	16.8184	0.85739	0.0:0.0:1.0:0.0	.	724	Q2TAZ0	ATG2A_HUMAN	H	724	ENSP00000410522:P724H;ENSP00000366475:P724H	ENSP00000366475:P724H	P	-	2	0	ATG2A	64433352	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.713000	0.61895	2.633000	0.89246	0.655000	0.94253	CCC		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	103	4	103	---	---	---	---	T	64676776	G	T	64676776	3	4	9	1	0	0	0	0	1	0	0	0	1093	1232	43	1	3753	1	ATG2A	11	64676776	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	138930	64676776	70329740	563	802										
LTBP3	4054	broad.mit.edu	37	chr11	65320672	65320672	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaagcctcttgtagccctgGggacagtcagcgcccacttc	10	14	2	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.chr11:65320672G>T	ENST00000301873.5	-	5	1294	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	342					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						TGTAGCCCTGGGGACAGTCAG	0.627																																						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.(1024-1026)ccC>ccA		latent transforming growth factor beta binding protein 3							83	77	79					11																	65320672		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320672G>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.1026C>A	11.37:g.65320672G>T			Somatic				LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	p.P342P	NM_001130144.2	NP_001123616.1	WXS	Illumina GAIIx	Phase_I	Q9NS15	LTBP3_HUMAN			5	1294	-			342					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.1026C>A	CCDS44647.1																																																																																				0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	132	5	132	---	---	---	---	T	65320672	G	T	65320672	2	4	9	1	0	0	0	0	0	0	0	1	9075	1219	43	1		1	LTBP3	11	65320672	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	643896	65320672	69685844	564	803										
SSSCA1	10534	broad.mit.edu	37	chr11	65339074	65339074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcctgcacacagacagccCtcttgcagaagctgacctgg	11	14	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.chr11:65339074C>A	ENST00000309328.3	+	4	531	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000449319.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000531405.1_Missense_Mutation_p.L120I|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000527920.1_Intron	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						ACAGACAGCCCTCTTGCAGAA	0.617																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(358-360)Ctc>Atc		Sjogren syndrome/scleroderma autoantigen 1							78	63	68					11																	65339074		2201	4297	6498	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65339074C>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.469C>A	11.37:g.65339074C>A	ENSP00000312318:p.Leu157Ile		Somatic				SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.L157I	p.L120I			WXS	Illumina GAIIx	Phase_I	O60232	SSA27_HUMAN			3	594	+			157			Pro-rich.			Missense_Mutation	SNP	ENST00000309328.3	37	c.358C>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549071	0.65311	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.46819	0.93;0.86	4.64	3.7	0.42460	.	0.069702	0.56097	D	0.000028	T	0.30759	0.0775	L	0.36672	1.1	0.80722	D	1	P	0.34977	0.478	B	0.29267	0.1	T	0.10847	-1.0612	10	0.37606	T	0.19	-10.0507	6.744	0.23451	0.0:0.7223:0.1799:0.0978	.	157	O60232	SSA27_HUMAN	I	157;120;151	ENSP00000312318:L157I;ENSP00000435432:L151I	ENSP00000312318:L157I	L	+	1	0	SSSCA1	65095650	0.906000	0.30813	1.000000	0.80357	0.981000	0.71138	1.251000	0.32862	2.413000	0.81919	0.655000	0.94253	CTC		0.617	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		4	104	4	104	---	---	---	---	A	65339074	C	A	65339074	3	1	9	1	0	0	0	0	1	0	0	0	15194	681	24	1	483	1	SSSCA1	11	65339074	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	18402	65339074	69667442	565	804										
EHBP1L1	254102	broad.mit.edu	37	chr11	65350073	65350073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtgggggtcatagagaccCcagggacagagactgaggta	17	7	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.chr11:65350073C>A	ENST00000309295.4	+	9	2195	c.1930C>A	c.(1930-1932)Cca>Aca	p.P644T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	644	Glu-rich.					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						CATAGAGACCCCAGGGACAGA	0.542																																						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.(1930-1932)Cca>Aca		EH domain binding protein 1-like 1							51	55	54					11																	65350073		1916	4147	6063	SO:0001583	missense	254102							g.chr11:65350073C>A	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.1930C>A	11.37:g.65350073C>A	ENSP00000312671:p.Pro644Thr		Somatic					p.P644T	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			9	2195	+			644			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1930C>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147199	0.21288	.	.	ENSG00000173442	ENST00000309295	T	0.65364	-0.15	4.1	-2.14	0.07123	.	.	.	.	.	T	0.40619	0.1124	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.21999	-1.0229	9	0.40728	T	0.16	.	5.5454	0.17061	0.0:0.3073:0.4238:0.2689	.	644	Q8N3D4	EH1L1_HUMAN	T	644	ENSP00000312671:P644T	ENSP00000312671:P644T	P	+	1	0	EHBP1L1	65106649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-0.390000	0.07774	-0.463000	0.05309	CCA		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		4	96	4	96	---	---	---	---	A	65350073	C	A	65350073	3	1	9	1	0	0	0	0	1	0	0	0	4976	623	22	1	1964	1	EHBP1L1	11	65350073	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	10999	65350073	69656443	566	805										
NPAS4	266743	broad.mit.edu	37	chr11	66192519	66192519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcatggatctctctaccCcagatcccagtgaggaatgg	9	12	4	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.chr11:66192519C>A	ENST00000311034.2	+	7	2334	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					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						TCTCTCTACCCCAGATCCCAG	0.582																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2158-2160)Cca>Aca		neuronal PAS domain protein 4							63	70	68					11																	66192519		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192519C>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.2158C>A	11.37:g.66192519C>A	ENSP00000311196:p.Pro720Thr		Somatic					p.P720T	NM_178864.3	NP_849195.2	WXS	Illumina GAIIx	Phase_I	Q8IUM7	NPAS4_HUMAN			7	2334	+			720					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.2158C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410354	0.25465	.	.	ENSG00000174576	ENST00000311034	T	0.51817	0.69	4.79	3.8	0.43715	.	0.119622	0.38605	N	0.001636	T	0.30262	0.0759	N	0.19112	0.55	0.40992	D	0.98486	B	0.15141	0.012	B	0.18871	0.023	T	0.14559	-1.0468	10	0.72032	D	0.01	-1.6329	6.4654	0.21980	0.0:0.7621:0.0:0.2379	.	720	Q8IUM7	NPAS4_HUMAN	T	720	ENSP00000311196:P720T	ENSP00000311196:P720T	P	+	1	0	NPAS4	65949095	0.477000	0.25909	0.998000	0.56505	0.995000	0.86356	0.776000	0.26704	1.142000	0.42291	0.655000	0.94253	CCA		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		6	188	6	188	---	---	---	---	A	66192519	C	A	66192519	3	1	9	1	0	0	0	0	1	0	0	0	10565	623	22	1	2184	1	NPAS4	11	66192519	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	842446	66192519	68813997	567	806										
CCS	9973	broad.mit.edu	37	chr11	66367007	66367007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcgcttcctacagctgaccCctgagcgctgcctcatcgag	10	16	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.chr11:66367007C>A	ENST00000533244.1	+	4	769	c.328C>A	c.(328-330)Cct>Act	p.P110T	CCS_ENST00000310190.4_Missense_Mutation_p.P91T	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	110	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACAGCTGACCCCTGAGCGCTG	0.612																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(328-330)Cct>Act		copper chaperone for superoxide dismutase							36	35	35					11																	66367007		2200	4295	6495	SO:0001583	missense	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66367007C>A	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.328C>A	11.37:g.66367007C>A	ENSP00000436318:p.Pro110Thr		Somatic				CCS_ENST00000310190.4_Missense_Mutation_p.P91T	p.P110T	NM_005125.1	NP_005116.1	WXS	Illumina GAIIx	Phase_I	O14618	CCS_HUMAN			4	769	+			110			Superoxide dismutase-like.		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	c.328C>A	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181839	0.21787	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.45276	0.9;0.9	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.336327	0.31577	N	0.007418	T	0.30479	0.0766	L	0.41356	1.27	0.29514	N	0.854008	B	0.15141	0.012	B	0.15052	0.012	T	0.17961	-1.0352	10	0.19590	T	0.45	.	8.7599	0.34667	0.0:0.897:0.0:0.103	.	110	O14618	CCS_HUMAN	T	110;91	ENSP00000436318:P110T;ENSP00000307870:P91T	ENSP00000307870:P91T	P	+	1	0	CCS	66123583	0.097000	0.21791	0.512000	0.27736	0.827000	0.46813	1.366000	0.34193	1.419000	0.47118	0.655000	0.94253	CCT		0.612	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		4	38	4	38	---	---	---	---	A	66367007	C	A	66367007	3	1	9	1	0	0	0	0	1	0	0	0	2952	623	22	1	342	1	CCS	11	66367007	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	174488	66367007	68639509	568	807										
SSH3	54961	broad.mit.edu	37	chr11	67072366	67072366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtgaggaggagctccacgGggaccagacagacttcgggc	17	10	0	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.chr11:67072366G>T	ENST00000308127.4	+	3	405	c.227G>T	c.(226-228)gGg>gTg	p.G76V	SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	76					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)			GAGCTCCACGGGGACCAGACA	0.622																																						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.(226-228)gGg>gTg		slingshot protein phosphatase 3							50	52	51					11																	67072366		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.chr11:67072366G>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.227G>T	11.37:g.67072366G>T	ENSP00000312081:p.Gly76Val		Somatic				SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR	p.G76V	NM_017857.3	NP_060327.3	WXS	Illumina GAIIx	Phase_I	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	405	+			76					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.227G>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768767	0.15983	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.30448	3.84;1.53;3.88	5.18	0.834	0.18880	.	4.269340	0.00465	N	0.000109	T	0.25195	0.0612	L	0.36672	1.1	0.09310	N	0.999993	P	0.46395	0.877	B	0.39299	0.296	T	0.19745	-1.0296	10	0.49607	T	0.09	-4.9005	5.1975	0.15246	0.2183:0.4248:0.357:0.0	.	76	Q8TE77	SSH3_HUMAN	V	76	ENSP00000312081:G76V;ENSP00000310055:G76V;ENSP00000365948:G76V	ENSP00000312081:G76V	G	+	2	0	SSH3	66828942	0.002000	0.14202	0.003000	0.11579	0.018000	0.09664	0.014000	0.13333	0.177000	0.19895	0.561000	0.74099	GGG		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	48	4	48	---	---	---	---	T	67072366	G	T	67072366	3	4	9	1	0	0	0	0	1	0	0	0	15185	1232	43	1	237	1	SSH3	11	67072366	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	705359	67072366	67934150	569	808										
INPPL1	3636	broad.mit.edu	37	chr11	71948310	71948310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccctcgcctgccagggccCctgtcccatctgccaccaag	8	21	1	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.chr11:71948310C>A	ENST00000298229.2	+	26	3226	c.3022C>A	c.(3022-3024)Cct>Act	p.P1008T	INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1008	Pro-rich.				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						TGCCAGGGCCCCTGTCCCATC	0.632																																						ENST00000298229.2																			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.(3022-3024)Cct>Act		inositol polyphosphate phosphatase-like 1							71	85	80					11																	71948310		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948310C>A	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.3022C>A	11.37:g.71948310C>A	ENSP00000298229:p.Pro1008Thr		Somatic				INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T	p.P1008T	NM_001567.3	NP_001558.3	WXS	Illumina GAIIx	Phase_I	O15357	SHIP2_HUMAN			26	3226	+			1008			Pro-rich.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3022C>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	6.531	0.466166	0.12402	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	D;D;D;T	0.96802	-3.02;-4.13;-4.13;1.28	5.19	4.26	0.50523	.	0.298625	0.31020	N	0.008420	D	0.91623	0.7353	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	D	0.84191	0.0445	10	0.49607	T	0.09	.	11.0693	0.47993	0.1857:0.8143:0.0:0.0	.	1008	O15357	SHIP2_HUMAN	T	1008;766;766;21	ENSP00000298229:P1008T;ENSP00000446360:P766T;ENSP00000444619:P766T;ENSP00000441094:P21T	ENSP00000298229:P1008T	P	+	1	0	INPPL1	71625958	0.025000	0.19082	0.984000	0.44739	0.952000	0.60782	1.563000	0.36364	1.163000	0.42636	-0.521000	0.04368	CCT		0.632	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		5	151	5	151	---	---	---	---	A	71948310	C	A	71948310	3	1	9	1	0	0	0	0	1	0	0	0	7761	623	22	1	3124	1	INPPL1	11	71948310	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4875944	71948310	63058206	570	809										
RNF169	254225	broad.mit.edu	37	chr11	74547027	74547027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctctggctcctgaaatggGggaagagttactaggctctg	13	9	2	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.chr11:74547027G>T	ENST00000299563.4	+	6	1392	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	460					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						CCTGAAATGGGGGAAGAGTTA	0.473																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1378-1380)gGg>gTg		ring finger protein 169							127	127	127					11																	74547027		1859	4087	5946	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547027G>T	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	ENST00000299563.4:c.1379G>T	11.37:g.74547027G>T	ENSP00000299563:p.Gly460Val		Somatic					p.G460V	NM_001098638.1	NP_001092108.1	WXS	Illumina GAIIx	Phase_I	Q8NCN4	RN169_HUMAN			6	1392	+			460					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1379G>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000166439	ENST00000299563	T	0.67698	-0.28	5.99	4.09	0.47781	.	0.222764	0.39341	N	0.001389	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79605	-0.1734	10	0.87932	D	0	-19.6922	9.7784	0.40634	0.0768:0.1417:0.7815:0.0	.	460	Q8NCN4	RN169_HUMAN	V	460	ENSP00000299563:G460V	ENSP00000299563:G460V	G	+	2	0	RNF169	74224675	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	1.968000	0.40500	0.836000	0.34901	0.655000	0.94253	GGG		0.473	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		7	357	7	357	---	---	---	---	T	74547027	G	T	74547027	3	4	9	1	0	0	0	0	1	0	0	0	13460	1232	43	1	1401	1	RNF169	11	74547027	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2598717	74547027	60459489	571	810										
DGAT2	84649	broad.mit.edu	37	chr11	75507428	75507428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatatctttggataccaccCccatggtatcatgggcctgg	9	12	2	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.chr11:75507428C>A	ENST00000228027.7	+	5	745	c.485C>A	c.(484-486)cCc>cAc	p.P162H	DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	162					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)					GGATACCACCCCCATGGTATC	0.547																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(484-486)cCc>cAc		diacylglycerol O-acyltransferase 2							168	164	165					11																	75507428		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75507428C>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.485C>A	11.37:g.75507428C>A	ENSP00000228027:p.Pro162His		Somatic				DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	p.P162H	NM_032564.4	NP_115953.2	WXS	Illumina GAIIx	Phase_I	Q96PD7	DGAT2_HUMAN			5	745	+	Ovarian(111;0.103)		162					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.485C>A	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858739	0.91433	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.35973	1.28;1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80973	-0.1143	10	0.87932	D	0	-37.4176	18.8203	0.92094	0.0:1.0:0.0:0.0	.	119;162	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	H	71;71;162;119;116;71	ENSP00000228027:P162H;ENSP00000365438:P119H	ENSP00000228027:P162H	P	+	2	0	DGAT2	75185076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.352000	0.79404	2.782000	0.95742	0.655000	0.94253	CCC		0.547	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		6	353	6	353	---	---	---	---	A	75507428	C	A	75507428	3	1	9	1	0	0	0	0	1	0	0	0	4458	623	22	1	503	1	DGAT2	11	75507428	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	960401	75507428	59499088	572	811										
TRIM49	57093	broad.mit.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctcattctgattcttctcTttccgatacatattacagac	3	11	4	2	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			Somatic				TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	WXS	Illumina GAIIx	Phase_I	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	6	225	---	---	---	---	C	89531568	T	C	89531568	2	2	9	1	0	0	0	0	0	0	0	1	16521	1606	56	2		2	TRIM49	11	89531568	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	14024140	89531568	45474948	573	812										
FAT3	120114	broad.mit.edu	37	chr11	92523311	92523311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagaaaattccggattgaccCtagcactggcgtgctctata	10	10	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.chr11:92523311C>A	ENST00000298047.6	+	7	4555	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H|FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1513	Cadherin 14. {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)				CGGATTGACCCTAGCACTGGC	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.(4537-4539)cCt>cAt		FAT atypical cadherin 3							172	167	168					11																	92523311		2060	4209	6269	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523311C>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.4538C>A	11.37:g.92523311C>A	ENSP00000298047:p.Pro1513His	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H|FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H	p.P1513H			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			7	4555	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1513			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4538C>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262686	0.80358	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	6.17	5.24	0.73138	.	.	.	.	.	T	0.81302	0.4794	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.88004	0.2758	9	0.72032	D	0.01	.	17.4035	0.87467	0.0:0.8754:0.1246:0.0	.	1513	Q8TDW7-3	.	H	1513;1513;1363	ENSP00000298047:P1513H;ENSP00000387040:P1513H;ENSP00000432586:P1363H	ENSP00000298047:P1513H	P	+	2	0	FAT3	92162959	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	4.737000	0.62066	1.565000	0.49641	0.655000	0.94253	CCT		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	264	6	264	---	---	---	---	A	92523311	C	A	92523311	3	1	9	1	0	0	0	0	1	0	0	0	5691	681	24	1	4564	1	FAT3	11	92523311	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2991743	92523311	42483205	574	813										
GPR83	10888	broad.mit.edu	37	chr11	94134379	94134379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcggtggctcgcaccaagGggaggagacagagcagcaag	17	10	0	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.chr11:94134379G>T	ENST00000243673.2	-	1	206	c.35C>A	c.(34-36)cCc>cAc	p.P12H	GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	12					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)				TCGCACCAAGGGGAGGAGACA	0.706																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(34-36)cCc>cAc		G protein-coupled receptor 83							22	24	23					11																	94134379		2199	4285	6484	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134379G>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.35C>A	11.37:g.94134379G>T	ENSP00000243673:p.Pro12His		Somatic				GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	p.P12H	NM_016540.3	NP_057624.3	WXS	Illumina GAIIx	Phase_I	Q9NYM4	GPR83_HUMAN			1	206	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	12					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.35C>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	4.942	0.174994	0.09391	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.60548	0.18;0.27	4.68	-4.63	0.03359	.	0.961491	0.08610	N	0.920216	T	0.31199	0.0789	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.22109	T	0.4	.	10.1798	0.42961	0.0:0.1467:0.6572:0.1961	.	12	Q9NYM4	GPR83_HUMAN	H	12	ENSP00000243673:P12H;ENSP00000441550:P12H	ENSP00000243673:P12H	P	-	2	0	GPR83	93774027	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.781000	0.04648	-0.539000	0.06273	-0.521000	0.04368	CCC		0.706	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		5	59	5	59	---	---	---	---	T	94134379	G	T	94134379	3	4	9	1	0	0	0	0	1	0	0	0	6713	1232	43	1	1252	1	GPR83	11	94134379	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1611068	94134379	40872137	575	814										
MMP1	4312	broad.mit.edu	37	chr11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagctgtagatgtccttgGggtatccgtgtagcacattc	13	8	0	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.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATGTCCTTGGGGTATCCGTG	0.448																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1081-1083)cCc>cAc		matrix metallopeptidase 1 (interstitial collagenase)							250	231	237					11																	102662178		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102662178G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1082C>A	11.37:g.102662178G>T	ENSP00000322788:p.Pro361His		Somatic				WTAPP1_ENST00000525739.2_RNA	p.P361H	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	WXS	Illumina GAIIx	Phase_I	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	8	1149	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	361			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1082C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.833361	0.71258	.	.	ENSG00000196611	ENST00000315274	T	0.59224	0.28	5.62	4.7	0.59300	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000010	D	0.84365	0.5456	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90020	0.4127	10	0.87932	D	0	.	14.1056	0.65088	0.0729:0.0:0.9271:0.0	.	361	P03956	MMP1_HUMAN	H	361	ENSP00000322788:P361H	ENSP00000322788:P361H	P	-	2	0	MMP1	102167388	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	6.563000	0.73964	1.498000	0.48600	0.655000	0.94253	CCC		0.448	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		7	535	7	535	---	---	---	---	T	102662178	G	T	102662178	3	4	9	1	0	0	0	0	1	0	0	0	9648	1232	43	1	339	1	MMP1	11	102662178	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8527799	102662178	32344338	576	815										
MMP13	4322	broad.mit.edu	37	chr11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagactggtaatggcatcaaGggataaggaagggtcacatt	14	5	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.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ATGGCATCAAGGGATAAGGAA	0.433																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(868-870)Ctt>Att		matrix metallopeptidase 13 (collagenase 3)							328	297	308					11																	102820888		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820888G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.868C>A	11.37:g.102820888G>T	ENSP00000260302:p.Leu290Ile		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	p.L290I	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	896	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	290			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.868C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578299	0.45902	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.01647	4.71;4.71	5.77	4.84	0.62591	Hemopexin/matrixin (2);	0.366010	0.32055	N	0.006648	T	0.01976	0.0062	N	0.16130	0.375	0.31482	N	0.667005	B	0.16603	0.018	B	0.31614	0.133	T	0.18085	-1.0348	10	0.52906	T	0.07	.	13.322	0.60438	0.0:0.0:0.6044:0.3955	.	290	P45452	MMP13_HUMAN	I	290	ENSP00000260302:L290I;ENSP00000339672:L290I	ENSP00000260302:L290I	L	-	1	0	MMP13	102326098	0.955000	0.32602	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	1.388000	0.46506	0.650000	0.86243	CTT		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		8	312	8	312	---	---	---	---	T	102820888	G	T	102820888	3	4	9	1	0	0	0	0	1	0	0	0	9652	1000	35	1	567	1	MMP13	11	102820888	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	158710	102820888	32185628	577	816										
MMP13	4322	broad.mit.edu	37	chr11	102820932	102820932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggcgtttttggatgtttaGggttggggtcttcatctcct	13	7	3	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.chr11:102820932G>T	ENST00000260302.3	-	6	852	c.824C>A	c.(823-825)cCt>cAt	p.P275H	MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	275	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TGGATGTTTAGGGTTGGGGTC	0.448																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(823-825)cCt>cAt		matrix metallopeptidase 13 (collagenase 3)							377	345	356					11																	102820932		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820932G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.824C>A	11.37:g.102820932G>T	ENSP00000260302:p.Pro275His		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	p.P275H	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	852	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	275					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.824C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524966	0.85600	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.20200	2.29;2.09	5.66	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.85462	2.755	0.80722	D	1	P	0.48350	0.909	P	0.50136	0.632	T	0.49322	-0.8952	10	0.87932	D	0	.	15.6762	0.77326	0.0:0.0:0.8624:0.1376	.	275	P45452	MMP13_HUMAN	H	275	ENSP00000260302:P275H;ENSP00000339672:P275H	ENSP00000260302:P275H	P	-	2	0	MMP13	102326142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.654000	0.90174	0.650000	0.86243	CCT		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		6	370	6	370	---	---	---	---	T	102820932	G	T	102820932	3	4	9	1	0	0	0	0	1	0	0	0	9652	1000	35	1	611	1	MMP13	11	102820932	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	44	102820932	32185584	578	817										
CARD17	440068	broad.mit.edu	37	chr11	104971436	104971436	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgtctccaataattcaccCagtaagccatttattgtacc	4	12	2	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.chr11:104971436C>A	ENST00000375707.1	-	2	94	c.78G>T	c.(76-78)ctG>ctT	p.L26L	CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	26	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATAATTCACCCAGTAAGCCAT	0.438																																						ENST00000375707.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						c.(76-78)ctG>ctT		caspase recruitment domain family, member 17							203	192	195					11																	104971436		2202	4299	6501	SO:0001819	synonymous_variant	440068							g.chr11:104971436C>A		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"Inhibitory CARD"	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.78G>T	11.37:g.104971436C>A			Somatic				CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	p.L26L	NM_001007232.1	NP_001007233.1	WXS	Illumina GAIIx	Phase_I					2	94	-									Silent	SNP	ENST00000375707.1	37	c.78G>T	CCDS31662.1																																																																																				0.438	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		7	439	7	439	---	---	---	---	A	104971436	C	A	104971436	2	1	9	1	0	0	0	0	0	0	0	1	2648	581	21	1		1	CARD17	11	104971436	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2150504	104971436	30035080	579	818										
PHLDB1	23187	broad.mit.edu	37	chr11	118501983	118501983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatacagccgggctgatggGggacctgaggctggggagct	19	8	0	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.chr11:118501983G>T	ENST00000361417.2	+	8	2298	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.G629G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	629										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)		GGGCTGATGGGGGACCTGAGG	0.667																																						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.(1885-1887)ggG>ggT		pleckstrin homology-like domain, family B, member 1							86	95	92					11																	118501983		2196	4290	6486	SO:0001819	synonymous_variant	23187							g.chr11:118501983G>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.1887G>T	11.37:g.118501983G>T			Somatic				PHLDB1_ENST00000356063.5_Silent_p.G629G|PHLDB1_ENST00000534672.1_3'UTR	p.G629G	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	8	2298	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	629					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1887G>T	CCDS8401.1																																																																																				0.667	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	238	7	238	---	---	---	---	T	118501983	G	T	118501983	2	4	9	1	0	0	0	0	0	0	0	1	11851	1219	43	1		1	PHLDB1	11	118501983	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13530547	118501983	16504533	580	819										
ACRV1	56	broad.mit.edu	37	chr11	125547733	125547733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgcacctgaagcctgttccCctgaagcgtgctcacctgaa	10	14	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.chr11:125547733C>A	ENST00000533904.1	-	2	854	c.512G>T	c.(511-513)gGg>gTg	p.G171V	ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				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)		AGCCTGTTCCCCTGAAGCGTG	0.542																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(511-513)gGg>gTg		acrosomal vesicle protein 1							138	119	125					11																	125547733		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547733C>A	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.512G>T	11.37:g.125547733C>A	ENSP00000432816:p.Gly171Val		Somatic				ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V	p.G171V			WXS	Illumina GAIIx	Phase_I	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	854	-	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)	171			9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.512G>T	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400802	0.42613	.	.	ENSG00000134940	ENST00000533904;ENST00000257382;ENST00000426183;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T	0.21031	2.07;2.06;2.09;2.06;2.12;2.03;2.06;2.09	3.71	1.75	0.24633	.	1.333810	0.05186	N	0.502273	T	0.38506	0.1043	M	0.72118	2.19	0.22811	N	0.998709	P;D;D;P;D	0.58970	0.617;0.972;0.984;0.95;0.977	B;P;P;P;P	0.61592	0.242;0.891;0.804;0.733;0.656	T	0.08310	-1.0728	10	0.42905	T	0.14	1.0809	2.9339	0.05808	0.2184:0.5431:0.0:0.2385	.	171;101;76;116;101	P26436;P26436-8;P26436-6;P26436-3;P26436-4	ASPX_HUMAN;.;.;.;.	V	171;116;101;76;71;101;116;101	ENSP00000432816:G171V;ENSP00000257382:G116V;ENSP00000411583:G101V;ENSP00000412653:G76V;ENSP00000257385:G71V;ENSP00000257383:G101V;ENSP00000433720:G116V;ENSP00000436819:G101V	ENSP00000257382:G116V	G	-	2	0	ACRV1	125052943	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	0.150000	0.16263	0.495000	0.27882	0.655000	0.94253	GGG		0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		5	137	5	137	---	---	---	---	A	125547733	C	A	125547733	3	1	9	1	0	0	0	0	1	0	0	0	172	623	22	1	297	1	ACRV1	11	125547733	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7045750	125547733	9458783	581	820										
SRPR	6734	broad.mit.edu	37	chr11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacatgccacccagtgttccCttggtcgcactgcagggaca	10	14	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.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(940-942)aaG>aaT		signal recognition particle receptor (docking protein)							172	163	166					11																	126135967		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135967C>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.942G>T	11.37:g.126135967C>A	ENSP00000328023:p.Lys314Asn		Somatic				SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	p.K314N	NM_003139.3	NP_003130.2	WXS	Illumina GAIIx	Phase_I	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1096	-	all_hematologic(175;0.145)		314					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.942G>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920929	0.33908	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	4.34	0.51931	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.044190	0.85682	D	0.000000	T	0.52549	0.1741	L	0.48986	1.54	0.54753	D	0.999981	B;B	0.19935	0.01;0.04	B;B	0.18561	0.005;0.022	T	0.46665	-0.9175	9	0.20519	T	0.43	-15.7727	10.5179	0.44900	0.0:0.7979:0.0:0.2021	.	286;314	E9PJS4;P08240	.;SRPR_HUMAN	N	314;286	.	ENSP00000328023:K314N	K	-	3	2	SRPR	125641177	0.998000	0.40836	1.000000	0.80357	0.740000	0.42216	0.852000	0.27764	1.461000	0.47929	-0.136000	0.14681	AAG		0.493	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		6	360	6	360	---	---	---	---	A	126135967	C	A	126135967	3	1	9	1	0	0	0	0	1	0	0	0	15161	680	24	1	1002	1	SRPR	11	126135967	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	588234	126135967	8870549	582	821										
ARHGAP32	9743	broad.mit.edu	37	chr11	128839338	128839338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagaagtgtctggaatccCtttggacccataatctaact	7	11	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.chr11:128839338C>A	ENST00000310343.9	-	22	5727	c.5728G>T	c.(5728-5730)Ggg>Tgg	p.G1910W	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1910	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						TCTGGAATCCCTTTGGACCCA	0.502																																						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.(5728-5730)Ggg>Tgg		Rho GTPase activating protein 32							77	81	80					11																	128839338		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.chr11:128839338C>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.5728G>T	11.37:g.128839338C>A	ENSP00000310561:p.Gly1910Trp		Somatic				ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	p.G1910W	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			22	5727	-			1910			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5728G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174215	0.57692	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.13196	2.64;2.61;2.61	5.84	4.93	0.64822	.	0.304334	0.36555	N	0.002524	T	0.35653	0.0939	M	0.66939	2.045	0.37697	D	0.924087	D	0.89917	1.0	D	0.72075	0.976	T	0.39781	-0.9597	10	0.87932	D	0	.	14.8961	0.70644	0.0:0.9312:0.0:0.0688	.	1910	A7KAX9	RHG32_HUMAN	W	1910;1561;1561	ENSP00000310561:G1910W;ENSP00000376425:G1561W;ENSP00000432862:G1561W	ENSP00000310561:G1910W	G	-	1	0	ARHGAP32	128344548	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.843000	0.55865	1.478000	0.48253	0.655000	0.94253	GGG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		5	172	5	172	---	---	---	---	A	128839338	C	A	128839338	3	1	9	1	0	0	0	0	1	0	0	0	881	681	24	1	539	1	ARHGAP32	11	128839338	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2703371	128839338	6167178	583	822										
NFRKB	4798	broad.mit.edu	37	chr11	129752403	129752403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtgagagaggtgcgaccCcttcagtactgcttagcggc	13	12	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.chr11:129752403C>A	ENST00000446488.3	-	9	1128	c.1025G>T	c.(1024-1026)gGg>gTg	p.G342V	NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	342					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)		AGGTGCGACCCCTTCAGTACT	0.468																																						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.(1024-1026)gGg>gTg		nuclear factor related to kappaB binding protein							118	122	121					11																	129752403		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.chr11:129752403C>A		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.1025G>T	11.37:g.129752403C>A	ENSP00000400476:p.Gly342Val		Somatic				NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V	p.G342V	NM_001143835.1	NP_001137307.1	WXS	Illumina GAIIx	Phase_I	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1128	-	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)	342					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1025G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	6.604	0.479915	0.12581	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.81	4.88	0.63580	.	0.335667	0.35349	N	0.003278	T	0.28928	0.0718	N	0.19112	0.55	0.26447	N	0.975673	B;B;B;B	0.22683	0.043;0.018;0.073;0.03	B;B;B;B	0.21151	0.015;0.015;0.033;0.033	T	0.26121	-1.0112	9	0.72032	D	0.01	-12.8334	10.94	0.47268	0.1461:0.7133:0.1406:0.0	.	354;342;342;367	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	V	342;342;367;342;354	.	ENSP00000303800:G342V	G	-	2	0	NFRKB	129257613	0.417000	0.25432	0.030000	0.17652	0.038000	0.13279	2.493000	0.45320	1.427000	0.47276	0.655000	0.94253	GGG		0.468	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		6	249	6	249	---	---	---	---	A	129752403	C	A	129752403	3	1	9	1	0	0	0	0	1	0	0	0	10384	623	22	1	2946	1	NFRKB	11	129752403	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	913065	129752403	5254113	584	823										
WNK1	65125	broad.mit.edu	37	chr12	978200	978200	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacttttcttctgtttccCccaaggaaccacatctcagc	4	17	3	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.chr12:978200C>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.P1103H|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H|WNK1_ENST00000574564.1_Missense_Mutation_p.P402H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						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)			TTCTGTTTCCCCCAAGGAACC	0.458																																					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.(3307-3309)cCc>cAc		WNK lysine deficient protein kinase 1							311	301	304					12																	978200		1914	4140	6054	SO:0001627	intron_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.chr12:978200C>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.2140-2231C>A	12.37:g.978200C>A			Somatic				WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H	p.P1103H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	WXS	Illumina GAIIx	Phase_I	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)		9	3951	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		849					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3308C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372403	0.61624	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.18016	2.24;2.24	5.75	5.75	0.90469	.	.	.	.	.	T	0.46054	0.1373	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40327	-0.9569	8	0.72032	D	0.01	.	18.1186	0.89564	0.0:1.0:0.0:0.0	.	1188	F5H2M7	.	H	1103;1188	ENSP00000444465:P1103H;ENSP00000433548:P1188H	ENSP00000433548:P1188H	P	+	2	0	WNK1	848461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.436000	0.44819	2.709000	0.92574	0.557000	0.71058	CCC		0.458	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		9	780	9	780	---	---	---	---	A	978200	C	A	978200	1	1	9	0	1	0	0	0	0	0	0	0	17374	623	22	1		1	WNK1	12	978200	Intron	SNP	C	TCGA-CH-5739-01A-11D-1576-08		978200	132873695	585	824										
RAD52	5893	broad.mit.edu	37	chr12	1039296	1039296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattaattacccgatgaccCtcaatgtagcacacctagaa	6	11	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.chr12:1039296C>A	ENST00000358495.3	-	4	339	c.201G>T	c.(199-201)gaG>gaT	p.E67D	RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000539046.1_De_novo_Start_OutOfFrame|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	67					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)			CCCGATGACCCTCAATGTAGC	0.398								Homologous recombination																														ENST00000539046.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19							Homologous recombination	RAD52 homolog (S. cerevisiae)							114	93	100					12																	1039296		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1039296C>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.201G>T	12.37:g.1039296C>A	ENSP00000351284:p.Glu67Asp		Somatic				RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000358495.3_Missense_Mutation_p.E67D				WXS	Illumina GAIIx	Phase_I	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		0	82	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)							Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Translation_Start_Site	SNP	ENST00000358495.3	37		CCDS8507.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716582	0.48622	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230;ENST00000544742;ENST00000541619	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.89	-0.279	0.12890	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	M	0.80746	2.51	0.52501	D	0.999952	P;D;D	0.89917	0.92;1.0;0.993	P;D;D	0.87578	0.804;0.998;0.969	T	0.49771	-0.8904	10	0.54805	T	0.06	-14.5545	9.4734	0.38856	0.0:0.4049:0.0:0.5951	.	67;67;67	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	D	67	ENSP00000351284:E67D;ENSP00000387901:E67D;ENSP00000440486:E67D;ENSP00000440268:E67D;ENSP00000441073:E67D;ENSP00000380407:E67D;ENSP00000443254:E67D;ENSP00000438965:E67D	ENSP00000351284:E67D	E	-	3	2	RAD52	909557	0.976000	0.34144	0.996000	0.52242	0.432000	0.31715	0.098000	0.15189	-0.023000	0.13963	0.305000	0.20034	GAG		0.398	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		4	111	4	111	---	---	---	---	A	1039296	C	A	1039296	3	1	9	1	0	0	0	0	1	0	0	0	12991	680	24	1	1091	1	RAD52	12	1039296	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	61096	1039296	132812599	586	825										
NCAPD2	9918	broad.mit.edu	37	chr12	6640148	6640148	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactttgtcacaccagagccCcgccgtactacccgtcggca	9	17	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.chr12:6640148C>A	ENST00000315579.5	+	31	4825	c.4026C>A	c.(4024-4026)ccC>ccA	p.P1342P	NCAPD2_ENST00000545962.1_Silent_p.P1297P|RP5-940J5.3_ENST00000537921.1_RNA|GAPDH_ENST00000229239.5_5'Flank	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1342					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)	p.P1342P(1)		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						CACCAGAGCCCCGCCGTACTA	0.483																																						ENST00000315579.5																			1	Substitution - coding silent(1)	p.P1342P(1)	lung(1)	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.(4024-4026)ccC>ccA		non-SMC condensin I complex, subunit D2							65	75	72					12																	6640148		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6640148C>A	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.4026C>A	12.37:g.6640148C>A			Somatic				NCAPD2_ENST00000545962.1_Silent_p.P1297P	p.P1342P	NM_014865.3	NP_055680.3	WXS	Illumina GAIIx	Phase_I	Q15021	CND1_HUMAN			31	4825	+			1342					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.4026C>A	CCDS8548.1																																																																																				0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		5	118	5	118	---	---	---	---	A	6640148	C	A	6640148	2	1	9	1	0	0	0	0	0	0	0	1	10205	610	22	1		1	NCAPD2	12	6640148	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5600852	6640148	127211747	587	826										
CHD4	1108	broad.mit.edu	37	chr12	6710586	6710586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgcagctgccactgatgccCcagaactgcctttgaagggg	12	14	0	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.chr12:6710586C>A	ENST00000357008.2	-	6	831	c.668G>T	c.(667-669)gGg>gTg	p.G223V	CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000309577.6_Missense_Mutation_p.G223V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	223					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						CACTGATGCCCCAGAACTGCC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(667-669)gGg>gTg		chromodomain helicase DNA binding protein 4							120	132	128					12																	6710586		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.chr12:6710586C>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.668G>T	12.37:g.6710586C>A	ENSP00000349508:p.Gly223Val		Somatic				CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000357008.2_Missense_Mutation_p.G223V	p.G223V			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			6	831	-			223					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.668G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223844	0.39300	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90069	-2.61;-2.61;-2.61;-2.61;0.93	5.87	5.87	0.94306	.	0.278611	0.34652	N	0.003799	D	0.86944	0.6055	L	0.44542	1.39	0.80722	D	1	P;P;P	0.41624	0.705;0.757;0.705	B;B;B	0.44044	0.439;0.293;0.439	D	0.84551	0.0644	10	0.26408	T	0.33	3.1869	15.6633	0.77206	0.0:0.8636:0.1364:0.0	.	223;223;216	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	V	220;216;223;223;197;223	ENSP00000440392:G220V;ENSP00000440542:G216V;ENSP00000312419:G223V;ENSP00000349508:G223V;ENSP00000437506:G223V	ENSP00000312419:G223V	G	-	2	0	CHD4	6580847	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.749000	0.47492	2.774000	0.95407	0.650000	0.86243	GGG		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	324	7	324	---	---	---	---	A	6710586	C	A	6710586	3	1	9	1	0	0	0	0	1	0	0	0	3327	623	22	1	5210	1	CHD4	12	6710586	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	70438	6710586	127141309	588	827										
CD163	9332	broad.mit.edu	37	chr12	7635313	7635313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatggccaacagaacaaccCcaaggatcccgactgcaata	7	13	0	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.chr12:7635313C>A	ENST00000359156.4	-	14	3375	c.3173G>T	c.(3172-3174)gGg>gTg	p.G1058V	CD163_ENST00000541972.1_Missense_Mutation_p.G1046V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1058					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)	CAGAACAACCCCAAGGATCCC	0.413																																						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.(3172-3174)gGg>gTg		CD163 molecule							122	127	125					12																	7635313		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635313C>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.3173G>T	12.37:g.7635313C>A	ENSP00000352071:p.Gly1058Val		Somatic				CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000541972.1_Missense_Mutation_p.G1046V	p.G1058V	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			14	3375	-			1058					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3173G>T	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.121859|2.121859	0.37436|0.37436	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237|ENST00000537626	T;T;T;T|T	0.01287|0.03889	5.05;5.08;5.06;5.08|3.77	4.19|4.19	3.29|3.29	0.37713|0.37713	.|.	0.770143|0.770143	0.11033|0.11033	N|N	0.606955|0.606955	T|T	0.06826|0.06826	0.0174|0.0174	L|L	0.29908|0.29908	0.895|0.895	0.27904|0.27904	N|N	0.938884|0.938884	D;D;D|.	0.89917|.	1.0;0.991;1.0|.	D;P;D|.	0.91635|.	0.999;0.83;0.999|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|8	0.38643|0.87932	T|D	0.18|0	.|.	10.2255|10.2255	0.43222|0.43222	0.0:0.7993:0.2007:0.0|0.0:0.7993:0.2007:0.0	.|.	1091;1058;1058|.	C9JHR8;Q86VB7-3;Q86VB7|.	.;.;C163A_HUMAN|.	V|W	1058;1046;1091;1058|71	ENSP00000352071:G1058V;ENSP00000444071:G1046V;ENSP00000379863:G1091V;ENSP00000403885:G1058V|ENSP00000439226:G71W	ENSP00000352071:G1058V|ENSP00000439226:G71W	G|G	-|-	2|1	0|0	CD163|CD163	7526580|7526580	0.109000|0.109000	0.22037|0.22037	0.119000|0.119000	0.21687|0.21687	0.026000|0.026000	0.11368|0.11368	1.796000|1.796000	0.38794|0.38794	1.356000|1.356000	0.45884|0.45884	0.462000|0.462000	0.41574|0.41574	GGG|GGG		0.413	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		6	244	6	244	---	---	---	---	A	7635313	C	A	7635313	3	1	9	1	0	0	0	0	1	0	0	0	2967	623	22	1	309	1	CD163	12	7635313	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	924727	7635313	126216582	589	828										
SLCO1B1	10599	broad.mit.edu	37	chr12	21391915	21391915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttctctatttctacagaaGggtctacttgggcttgtctt	8	8	4	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.chr12:21391915G>T	ENST00000256958.2	+	15	1964	c.1868G>T	c.(1867-1869)aGg>aTg	p.R623M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	623					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)	TTCTACAGAAGGGTCTACTTG	0.264																																						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.(1867-1869)aGg>aTg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						43	48	46					12																	21391915		2167	4282	6449	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.chr12:21391915G>T		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.1868G>T	12.37:g.21391915G>T	ENSP00000256958:p.Arg623Met		Somatic					p.R623M	NM_006446.4	NP_006437.3	WXS	Illumina GAIIx	Phase_I	Q9Y6L6	SO1B1_HUMAN			15	1964	+			623					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1868G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	3.105	-0.183903	0.06340	.	.	ENSG00000134538	ENST00000256958	T	0.58210	0.35	3.13	-6.26	0.02033	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.930800	0.03337	N	0.194212	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.06698	-1.0812	10	0.40728	T	0.16	.	0.7799	0.01039	0.2594:0.3073:0.111:0.3223	.	623	Q9Y6L6	SO1B1_HUMAN	M	623	ENSP00000256958:R623M	ENSP00000256958:R623M	R	+	2	0	SLCO1B1	21283182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.552000	0.06020	-1.050000	0.03230	-2.215000	0.00298	AGG		0.264	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		5	188	5	188	---	---	---	---	T	21391915	G	T	21391915	3	4	9	1	0	0	0	0	1	0	0	0	14723	1000	35	1	1922	1	SLCO1B1	12	21391915	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13756602	21391915	112459980	590	829										
KLHDC5	57542	broad.mit.edu	37	chr12	27933756	27933756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgaggtgctgtgcaagcccCagttccacctcctggggtct	12	14	1	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.chr12:27933756C>A	ENST00000381271.2	+	1	804	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	165					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)											GTGCAAGCCCCAGTTCCACCT	0.662																																						ENST00000381271.2																			0											c.(493-495)Cag>Aag		kelch-like family member 42							49	54	52					12																	27933756		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27933756C>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.493C>A	12.37:g.27933756C>A	ENSP00000370671:p.Gln165Lys		Somatic				RP11-860B13.1_ENST00000545904.1_RNA	p.Q165K	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					1	804	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.493C>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004092	0.54254	.	.	ENSG00000087448	ENST00000381271	T	0.68479	-0.33	4.68	4.68	0.58851	BTB/Kelch-associated (1);	0.362481	0.28555	N	0.014937	T	0.45577	0.1349	N	0.14661	0.345	0.31467	N	0.668855	B	0.20164	0.042	B	0.16722	0.016	T	0.41270	-0.9518	10	0.11182	T	0.66	.	12.0231	0.53354	0.0:0.7142:0.2858:0.0	.	165	Q9P2K6	KLDC5_HUMAN	K	165	ENSP00000370671:Q165K	ENSP00000370671:Q165K	Q	+	1	0	KLHDC5	27825023	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.394000	0.59671	2.574000	0.86865	0.591000	0.81541	CAG		0.662	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		4	99	4	99	---	---	---	---	A	27933756	C	A	27933756	3	1	9	1	0	0	0	0	1	0	0	0	8359	595	21	1	495	1	KLHDC5	12	27933756	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6541841	27933756	105918139	591	830										
FAR2	55711	broad.mit.edu	37	chr12	29463970	29463970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcctatgcagactgggaaaGggtttcttcgggccataaaa	11	8	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.chr12:29463970G>T	ENST00000536681.3	+	7	1024	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	260					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GACTGGGAAAGGGTTTCTTCG	0.408																																						ENST00000536681.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(778-780)Ggg>Tgg		fatty acyl CoA reductase 2							139	133	135					12																	29463970		2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29463970G>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.778G>T	12.37:g.29463970G>T	ENSP00000443291:p.Gly260Trp		Somatic				RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W	p.G260W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	WXS	Illumina GAIIx	Phase_I	Q96K12	FACR2_HUMAN			7	1024	+								F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.778G>T	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977265	0.74360	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.31510	1.49;1.49;1.49	4.38	4.38	0.52667	Male sterility, NAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74589	-0.3615	10	0.87932	D	0	-1.9082	12.6448	0.56728	0.0:0.0:1.0:0.0	.	260	Q96K12	FACR2_HUMAN	W	260;260;163	ENSP00000443291:G260W;ENSP00000182377:G260W;ENSP00000449349:G163W	ENSP00000182377:G260W	G	+	1	0	FAR2	29355237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.073000	0.93992	2.426000	0.82243	0.655000	0.94253	GGG		0.408	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		5	226	5	226	---	---	---	---	T	29463970	G	T	29463970	3	4	9	1	0	0	0	0	1	0	0	0	5675	1000	35	1	800	1	FAR2	12	29463970	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1530214	29463970	104387925	592	831										
OVCH1	341350	broad.mit.edu	37	chr12	29614858	29614858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgtgatccctcctggatGggcagaatagtaagtgtgtt	12	8	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.chr12:29614858G>T	ENST00000318184.5	-	19	2208	c.2209C>A	c.(2209-2211)Cat>Aat	p.H737N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	737	Peptidase S1 2. {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)					CCTCCTGGATGGGCAGAATAG	0.458																																						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.(2209-2211)Cat>Aat		ovochymase 1							144	140	141					12																	29614858		1950	4175	6125	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29614858G>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.2209C>A	12.37:g.29614858G>T	ENSP00000326708:p.His737Asn		Somatic				OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.H737N	NM_183378.2	NP_899234.2	WXS	Illumina GAIIx	Phase_I	Q7RTY7	OVCH1_HUMAN			19	2208	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		737			Peptidase S1 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.2209C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.013269|2.013269	0.35511|0.35511	.|.	.|.	ENSG00000187950|ENSG00000257599	ENST00000318184|ENST00000550906	D|.	0.88046|.	-2.33|.	2.82|2.82	2.82|2.82	0.32997|0.32997	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.05259|0.05259	-0.085|-0.085	0.09310|0.09310	N|N	1|1	D|.	0.63046|.	0.992|.	P|.	0.61658|.	0.892|.	T|T	0.15983|0.15983	-1.0418|-1.0418	9|5	0.39692|.	T|.	0.17|.	.|.	11.8519|11.8519	0.52415|0.52415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737|.	Q7RTY7|.	OVCH1_HUMAN|.	N|L	737|103	ENSP00000326708:H737N|.	ENSP00000326708:H737N|.	H|W	-|+	1|2	0|0	OVCH1|RP11-677C1.2	29506125|29506125	0.958000|0.958000	0.32768|0.32768	0.055000|0.055000	0.19348|0.19348	0.110000|0.110000	0.19582|0.19582	2.786000|2.786000	0.47790|0.47790	1.906000|1.906000	0.55180|0.55180	0.655000|0.655000	0.94253|0.94253	CAT|TGG		0.458	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		5	226	5	226	---	---	---	---	T	29614858	G	T	29614858	3	4	9	1	0	0	0	0	1	0	0	0	11323	1348	47	1	1235	1	OVCH1	12	29614858	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	150888	29614858	104237037	593	832										
ADAMTS20	80070	broad.mit.edu	37	chr12	43847793	43847793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtaaggttcccatggtccCcattcaccatttacaggacg	8	13	1	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.chr12:43847793C>A	ENST00000389420.3	-	12	1676	c.1677G>T	c.(1675-1677)tgG>tgT	p.W559C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	559	TSP type-1 1. {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)		CCCATGGTCCCCATTCACCAT	0.413																																						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.(1675-1677)tgG>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							119	96	104					12																	43847793		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847793C>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.1677G>T	12.37:g.43847793C>A	ENSP00000374071:p.Trp559Cys		Somatic				ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	p.W559C	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1676	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	559			TSP type-1 1.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1677G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186389	0.78789	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.62788	0.0;0.0	4.77	4.77	0.60923	.	0.147161	0.32068	N	0.006634	D	0.89111	0.6622	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94161	0.7414	10	0.87932	D	0	.	18.6648	0.91485	0.0:1.0:0.0:0.0	.	559	P59510	ATS20_HUMAN	C	559	ENSP00000374071:W559C;ENSP00000448341:W559C	ENSP00000374068:W559C	W	-	3	0	ADAMTS20	42134060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.196000	0.77805	2.586000	0.87340	0.585000	0.79938	TGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	44	4	44	---	---	---	---	A	43847793	C	A	43847793	3	1	9	1	0	0	0	0	1	0	0	0	266	624	22	1	4166	1	ADAMTS20	12	43847793	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	14232935	43847793	90004102	594	833										
MLL2	8085	broad.mit.edu	37	chr12	49415605	49415605	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccaggctccacagtggcaGgggatcttgtgctgatcgtc	13	11	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.chr12:49415605G>T	ENST00000301067.7	-	54	16571	c.16572C>A	c.(16570-16572)ccC>ccA	p.P5524P	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5524	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				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)										CACAGTGGCAGGGGATCTTGT	0.507																																						ENST00000301067.7																			0											c.(16570-16572)ccC>ccA		lysine (K)-specific methyltransferase 2D							80	78	79					12																	49415605		1954	4156	6110	SO:0001819	synonymous_variant	8085							g.chr12:49415605G>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.16572C>A	12.37:g.49415605G>T			Somatic					p.P5524P	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					54	16571	-								O14687	Silent	SNP	ENST00000301067.7	37	c.16572C>A	CCDS44873.1																																																																																				0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	96	4	96	---	---	---	---	T	49415605	G	T	49415605	2	4	9	1	0	0	0	0	0	0	0	1	9621	987	35	1		1	MLL2	12	49415605	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5567812	49415605	84436290	595	834										
DIP2B	57609	broad.mit.edu	37	chr12	51126155	51126155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggtgtcttgcagaccagaGggatcaacctctcctgcgtc	11	12	3	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.chr12:51126155G>T	ENST00000301180.5	+	32	3851	c.3817G>T	c.(3817-3819)Ggg>Tgg	p.G1273W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1273						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						GCAGACCAGAGGGATCAACCT	0.537																																						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.(3817-3819)Ggg>Tgg		DIP2 disco-interacting protein 2 homolog B (Drosophila)							88	81	83					12																	51126155		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51126155G>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.3817G>T	12.37:g.51126155G>T	ENSP00000301180:p.Gly1273Trp		Somatic					p.G1273W	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			32	3851	+			1273					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3817G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293399	0.80914	.	.	ENSG00000066084	ENST00000301180	T	0.42900	0.96	4.54	4.54	0.55810	AMP-dependent synthetase/ligase (1);	0.099975	0.64402	D	0.000001	T	0.66137	0.2759	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70048	-0.4979	10	0.87932	D	0	-15.6539	18.6106	0.91284	0.0:0.0:1.0:0.0	.	1273	Q9P265	DIP2B_HUMAN	W	1273	ENSP00000301180:G1273W	ENSP00000301180:G1273W	G	+	1	0	DIP2B	49412422	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	2.805000	0.96524	0.655000	0.94253	GGG		0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	183	5	183	---	---	---	---	T	51126155	G	T	51126155	3	4	9	1	0	0	0	0	1	0	0	0	4528	1000	35	1	3943	1	DIP2B	12	51126155	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1710550	51126155	82725740	596	835										
SCN8A	6334	broad.mit.edu	37	chr12	52145217	52145217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcatctgggagtgccaccCctactggataaaactgaaag	9	12	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.chr12:52145217C>A	ENST00000354534.6	+	14	2388	c.2210C>A	c.(2209-2211)cCc>cAc	p.P737H	SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	737					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)	GAGTGCCACCCCTACTGGATA	0.428																																						ENST00000354534.6																			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.(2209-2211)cCc>cAc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						197	184	188					12																	52145217		1925	4141	6066	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.chr12:52145217C>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.2210C>A	12.37:g.52145217C>A	ENSP00000346534:p.Pro737His		Somatic				SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	WXS	Illumina GAIIx	Phase_I	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2388	+								B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2210C>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596738	0.86953	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.96587	-4.06;-4.04;-4.04;-3.94	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.85462	2.755	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;P	0.66716	0.946;0.924;0.805	D	0.98657	1.0682	10	0.66056	D	0.02	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	737;737;737	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	H	737;737;737;737;650	ENSP00000448415:P737H;ENSP00000346534:P737H;ENSP00000440360:P737H;ENSP00000347255:P737H	ENSP00000346534:P737H	P	+	2	0	SCN8A	50431484	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	5.902000	0.69869	2.727000	0.93392	0.650000	0.86243	CCC		0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	279	6	279	---	---	---	---	A	52145217	C	A	52145217	3	1	9	1	0	0	0	0	1	0	0	0	13924	623	22	1	2260	1	SCN8A	12	52145217	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1019062	52145217	81706678	597	836										
AAAS	8086	broad.mit.edu	37	chr12	53709129	53709129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaacttacagacagatggGggaacagggacccatggagg	14	9	0	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.chr12:53709129G>T	ENST00000209873.4	-	4	554	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	130					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGACAGATGGGGGAACAGGGA	0.582																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(388-390)cCc>cAc		achalasia, adrenocortical insufficiency, alacrimia							53	51	52					12																	53709129		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53709129G>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.389C>A	12.37:g.53709129G>T	ENSP00000209873:p.Pro130His		Somatic				AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron	p.P130H	NM_015665.5	NP_056480.1	WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			4	554	-			130					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.389C>A	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294399	0.81025	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.86366	-2.08;-2.11;-1.4	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92566	0.6062	10	0.72032	D	0.01	-22.4025	15.0919	0.72201	0.0:0.0:1.0:0.0	.	130;130	Q5JB47;Q9NRG9	.;AAAS_HUMAN	H	130	ENSP00000209873:P130H;ENSP00000377908:P130H;ENSP00000448020:P130H	ENSP00000209873:P130H	P	-	2	0	AAAS	51995396	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.317000	0.89987	2.530000	0.85305	0.643000	0.83706	CCC		0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			4	50	4	50	---	---	---	---	T	53709129	G	T	53709129	3	4	9	1	0	0	0	0	1	0	0	0	8	1232	43	1	1303	1	AAAS	12	53709129	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1563912	53709129	80142766	598	837										
MAP3K12	7786	broad.mit.edu	37	chr12	53876438	53876438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctccccggcctgaggtccCttcccttccagttcccagaa	7	19	0	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.chr12:53876438C>A	ENST00000267079.2	-	12	2275	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	684					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						CCTGAGGTCCCTTCCCTTCCA	0.637																																						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.(2050-2052)Ggg>Tgg		mitogen-activated protein kinase kinase kinase 12							77	86	83					12																	53876438		2202	4298	6500	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.chr12:53876438C>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.2050G>T	12.37:g.53876438C>A	ENSP00000267079:p.Gly684Trp		Somatic				MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W	p.G684W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	WXS	Illumina GAIIx	Phase_I	Q12852	M3K12_HUMAN			12	2275	-			684					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2050G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267599	0.40095	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75938	-0.98;-0.98;-0.98	4.14	4.14	0.48551	.	0.000000	0.43919	D	0.000509	T	0.71367	0.3331	N	0.08118	0	0.45899	D	0.998744	D;D	0.63046	0.992;0.987	D;P	0.65773	0.938;0.868	T	0.76796	-0.2827	10	0.59425	D	0.04	.	14.3432	0.66641	0.0:1.0:0.0:0.0	.	717;684	G3V1Y2;Q12852	.;M3K12_HUMAN	W	684;717;717	ENSP00000267079:G684W;ENSP00000449038:G717W;ENSP00000448689:G717W	ENSP00000267079:G684W	G	-	1	0	MAP3K12	52162705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.245000	0.32790	2.604000	0.88044	0.491000	0.48974	GGG		0.637	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		6	261	6	261	---	---	---	---	A	53876438	C	A	53876438	3	1	9	1	0	0	0	0	1	0	0	0	9246	681	24	1	545	1	MAP3K12	12	53876438	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	167309	53876438	79975457	599	838										
CBX5	23468	broad.mit.edu	37	chr12	54639979	54639979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagtcctctctcaaagccCcgagcgatatcattgctctg	7	15	4	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.chr12:54639979C>A	ENST00000439541.2	-	4	470	c.345G>T	c.(343-345)cgG>cgT	p.R115R	CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000209875.4_Silent_p.R115R	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	115					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTCAAAGCCCCGAGCGATAT	0.413																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(343-345)cgG>cgT		chromobox homolog 5							163	149	154					12																	54639979		2203	4300	6503	SO:0001819	synonymous_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54639979C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.345G>T	12.37:g.54639979C>A			Somatic				CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000439541.2_Silent_p.R115R	p.R115R	NM_012117.2	NP_036249.1	WXS	Illumina GAIIx	Phase_I	P45973	CBX5_HUMAN			4	481	-			115					B2R8T9	Silent	SNP	ENST00000439541.2	37	c.345G>T	CCDS8875.1																																																																																				0.413	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		7	371	7	371	---	---	---	---	A	54639979	C	A	54639979	2	1	9	1	0	0	0	0	0	0	0	1	2721	610	22	1		1	CBX5	12	54639979	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	763541	54639979	79211916	600	839										
OR6C1	390321	broad.mit.edu	37	chr12	55715238	55715238	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagcccccatgatgaacccCtttatttacagcctaagaaa	6	12	0	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.chr12:55715238C>A	ENST00000379668.2	+	1	893	c.855C>A	c.(853-855)ccC>ccA	p.P285P		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	285						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)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGAACCCCTTTATTTACA	0.408																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(853-855)ccC>ccA		olfactory receptor, family 6, subfamily C, member 1							141	136	138					12																	55715238		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715238C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"GPCR / Class A : Olfactory receptors"	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.855C>A	12.37:g.55715238C>A			Somatic					p.P285P	NM_001005182.1	NP_001005182.1	WXS	Illumina GAIIx	Phase_I	Q96RD1	OR6C1_HUMAN			1	893	+			285					B2RNM0	Silent	SNP	ENST00000379668.2	37	c.855C>A	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		6	335	6	335	---	---	---	---	A	55715238	C	A	55715238	2	1	9	1	0	0	0	0	0	0	0	1	11190	668	24	1		1	OR6C1	12	55715238	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1075259	55715238	78136657	601	840										
OR6C4	341418	broad.mit.edu	37	chr12	55945163	55945163	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accctcaccttactagacccCcacctccagacccccatgta	3	21	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.chr12:55945163C>A	ENST00000394256.2	+	1	181	c.153C>A	c.(151-153)ccC>ccA	p.P51P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	51						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						TACTAGACCCCCACCTCCAGA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(151-153)ccC>ccA		olfactory receptor, family 6, subfamily C, member 4							175	176	176					12																	55945163		2203	4300	6503	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945163C>A	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.153C>A	12.37:g.55945163C>A			Somatic				RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.P51P	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	Q8NGE1	OR6C4_HUMAN			1	181	+			51					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.153C>A	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			9	596	9	596	---	---	---	---	A	55945163	C	A	55945163	2	1	9	1	0	0	0	0	0	0	0	1	11193	610	22	1		1	OR6C4	12	55945163	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	229925	55945163	77906732	602	841										
ESYT1	23344	broad.mit.edu	37	chr12	56525301	56525301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatactggagccactcattgGggaccttcccttcgtggggg	14	11	1	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.chr12:56525301G>T	ENST00000394048.5	+	6	1019	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	252	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				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)	p.G252V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACTCATTGGGGACCTTCCC	0.527																																						ENST00000394048.5																			1	Substitution - Missense(1)	p.G252V(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(754-756)gGg>gTg		extended synaptotagmin-like protein 1							184	189	187					12																	56525301		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525301G>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.755G>T	12.37:g.56525301G>T	ENSP00000377612:p.Gly252Val		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V|ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V	p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			6	1019	+			252					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.755G>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181815	0.78677	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.79940	-1.32;-1.32;-1.32	5.78	5.78	0.91487	.	0.099468	0.64402	D	0.000002	D	0.86255	0.5889	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82671	-0.0342	10	0.29301	T	0.29	-26.3982	19.1723	0.93583	0.0:0.0:1.0:0.0	.	252;252	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	V	252;206;252;252	ENSP00000377612:G252V;ENSP00000267113:G252V;ENSP00000445952:G252V	ENSP00000267113:G252V	G	+	2	0	ESYT1	54811568	1.000000	0.71417	0.995000	0.50966	0.402000	0.30811	6.032000	0.70918	2.906000	0.99361	0.655000	0.94253	GGG		0.527	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	405	7	405	---	---	---	---	T	56525301	G	T	56525301	3	4	9	1	0	0	0	0	1	0	0	0	5264	1232	43	1	777	1	ESYT1	12	56525301	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	580138	56525301	77326594	603	842										
ESYT1	23344	broad.mit.edu	37	chr12	56527607	56527607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctcctctcgaccagatcccCcgtcagctgccatcttagtt	6	17	4	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.chr12:56527607C>A	ENST00000394048.5	+	13	1687	c.1423C>A	c.(1423-1425)Ccg>Acg	p.P475T	ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T|ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	475	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						ACCAGATCCCCCGTCAGCTGC	0.567																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1423-1425)Ccg>Acg		extended synaptotagmin-like protein 1							116	110	112					12																	56527607		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527607C>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.1423C>A	12.37:g.56527607C>A	ENSP00000377612:p.Pro475Thr		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T	p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			13	1687	+			475			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1423C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003590	0.74932	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.58060	0.36;0.5;0.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.65191	-0.6228	10	0.21014	T	0.42	-13.4652	18.3113	0.90201	0.0:1.0:0.0:0.0	.	475;475	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	T	475;429;475;475	ENSP00000377612:P475T;ENSP00000267113:P475T;ENSP00000445952:P475T	ENSP00000267113:P475T	P	+	1	0	ESYT1	54813874	0.996000	0.38824	1.000000	0.80357	0.896000	0.52359	6.383000	0.73172	2.699000	0.92147	0.563000	0.77884	CCG		0.567	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	189	5	189	---	---	---	---	A	56527607	C	A	56527607	3	1	9	1	0	0	0	0	1	0	0	0	5264	623	22	1	1473	1	ESYT1	12	56527607	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2306	56527607	77324288	604	843										
ESYT1	23344	broad.mit.edu	37	chr12	56531371	56531371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgaagggcaagtcagaccCctatgtcaaactaaagttgg	12	8	2	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.chr12:56531371C>A	ENST00000394048.5	+	18	2291	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	676	C2 3. {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						AAGTCAGACCCCTATGTCAAA	0.512																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2026-2028)cCc>cAc		extended synaptotagmin-like protein 1							140	144	143					12																	56531371		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531371C>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.2027C>A	12.37:g.56531371C>A	ENSP00000377612:p.Pro676His		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H|ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H	p.P676H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			18	2291	+			676			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2027C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873037	0.91664	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.78003	-1.14;-1.14;-1.14	5.22	5.22	0.72569	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.219021	0.47852	D	0.000219	D	0.93549	0.7941	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96169	0.9121	10	0.87932	D	0	-17.1023	17.9354	0.89011	0.0:1.0:0.0:0.0	.	686;676	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	676;630;686;686	ENSP00000377612:P676H;ENSP00000267113:P686H;ENSP00000445952:P686H	ENSP00000267113:P686H	P	+	2	0	ESYT1	54817638	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.418000	0.80167	2.608000	0.88229	0.655000	0.94253	CCC		0.512	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	332	7	332	---	---	---	---	A	56531371	C	A	56531371	3	1	9	1	0	0	0	0	1	0	0	0	5264	623	22	1	2127	1	ESYT1	12	56531371	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3764	56531371	77320524	605	844										
STAT2	6773	broad.mit.edu	37	chr12	56743919	56743919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcaaaccctgactctgccCcttctcgggggtcaaagttt	8	13	4	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.chr12:56743919C>A	ENST00000314128.4	-	13	1194	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	391					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						TGACTCTGCCCCTTCTCGGGG	0.408																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1171-1173)Ggg>Tgg		signal transducer and activator of transcription 2, 113kDa							101	110	107					12																	56743919		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.chr12:56743919C>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.1171G>T	12.37:g.56743919C>A	ENSP00000315768:p.Gly391Trp		Somatic				STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W	p.G391W			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			13	1194	-			391					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1171G>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069181	0.55539	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.87729	-2.29;-2.29;-2.29	5.36	3.52	0.40303	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.106814	0.64402	D	0.000009	D	0.89181	0.6642	L	0.56769	1.78	0.21915	N	0.999478	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.994;0.936;0.998	T	0.79838	-0.1634	10	0.87932	D	0	-21.9831	2.2727	0.04095	0.157:0.5237:0.1518:0.1675	.	387;387;391	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	W	391;387;193;387	ENSP00000315768:G391W;ENSP00000450751:G387W;ENSP00000387354:G387W	ENSP00000315768:G391W	G	-	1	0	STAT2	55030186	0.235000	0.23794	0.211000	0.23655	0.997000	0.91878	1.749000	0.38319	1.403000	0.46800	0.563000	0.77884	GGG		0.408	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		6	271	6	271	---	---	---	---	A	56743919	C	A	56743919	3	1	9	1	0	0	0	0	1	0	0	0	15264	623	22	1	1432	1	STAT2	12	56743919	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	212548	56743919	77107976	606	845										
BAZ2A	11176	broad.mit.edu	37	chr12	56997322	56997322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctctccatctcttcgaccCctgcggccagggacagctgc	9	18	2	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.chr12:56997322C>A	ENST00000551812.1	-	17	3400	c.3207G>T	c.(3205-3207)agG>agT	p.R1069S	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1037S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1069					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						CTCTTCGACCCCTGCGGCCAG	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.(3109-3111)agG>agT		bromodomain adjacent to zinc finger domain, 2A							123	129	127					12																	56997322		2030	4153	6183	SO:0001583	missense	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.chr12:56997322C>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.3207G>T	12.37:g.56997322C>A	ENSP00000446880:p.Arg1069Ser		Somatic				BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1069S	p.R1037S			WXS	Illumina GAIIx	Phase_I	Q9UIF9	BAZ2A_HUMAN			18	3310	-			1069					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.3111G>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184578	0.57909	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.71934	-0.23;-0.23;-0.25;-0.61;-0.25	5.2	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.29908	0.895	0.31883	N	0.618145	D;D;P	0.54964	0.969;0.969;0.948	P;P;P	0.53313	0.723;0.654;0.533	T	0.64803	-0.6321	10	0.22706	T	0.39	.	8.7547	0.34639	0.0:0.8463:0.0:0.1537	.	1067;1069;1069	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	S	1039;1037;1069;5;1067	ENSP00000368754:R1039S;ENSP00000179765:R1037S;ENSP00000446880:R1069S;ENSP00000448760:R5S;ENSP00000447941:R1067S	ENSP00000179765:R1037S	R	-	3	2	BAZ2A	55283589	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	-0.328000	0.07945	0.702000	0.31825	0.655000	0.94253	AGG		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	293	7	293	---	---	---	---	A	56997322	C	A	56997322	3	1	9	1	0	0	0	0	1	0	0	0	1331	622	22	1	2562	1	BAZ2A	12	56997322	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	253403	56997322	76854573	607	846										
NACA	4666	broad.mit.edu	37	chr12	57109690	57109690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taacaggttgcttggcagagGgggttgggacagggattcca	17	6	0	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.chr12:57109690G>T	ENST00000454682.1	-	3	5905	c.5624C>A	c.(5623-5625)cCc>cAc	p.P1875H	NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1875	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						CTTGGCAGAGGGGGTTGGGAC	0.572			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.(5623-5625)cCc>cAc		nascent polypeptide-associated complex alpha subunit							149	135	139					12																	57109690		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.chr12:57109690G>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.5624C>A	12.37:g.57109690G>T	ENSP00000403817:p.Pro1875His		Somatic				NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	p.P1875H	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	5905	-			12						Missense_Mutation	SNP	ENST00000454682.1	37	c.5624C>A		.	.	.	.	.	.	.	.	.	.	G	18.52	3.640862	0.67244	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60548	0.47;0.18	4.23	4.23	0.50019	.	.	.	.	.	T	0.62853	0.2462	N	0.19112	0.55	0.31788	N	0.630072	D;D	0.67145	0.993;0.996	D;D	0.69824	0.964;0.966	T	0.69465	-0.5138	9	0.87932	D	0	.	15.5004	0.75695	0.0:0.0:1.0:0.0	.	1875;722	E9PAV3;F8VU71	.;.	H	1875;722	ENSP00000403817:P1875H;ENSP00000448035:P722H	ENSP00000403817:P1875H	P	-	2	0	NACA	55395957	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.177000	0.71961	2.180000	0.69256	0.484000	0.47621	CCC		0.572	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	174	6	174	---	---	---	---	T	57109690	G	T	57109690	3	4	9	1	0	0	0	0	1	0	0	0	10133	1232	43	1	640	1	NACA	12	57109690	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	112368	57109690	76742205	608	847										
INHBE	83729	broad.mit.edu	37	chr12	57849951	57849951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaccacctgtaccatgccCgcctgtggctgcacgtgctc	9	19	0	0	rs367736143		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.chr12:57849951C>A	ENST00000266646.2	+	2	589	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	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						GTACCATGCCCGCCTGTGGCT	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>Agc		inhibin, beta E							140	142	141					12																	57849951		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849951C>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.373C>A	12.37:g.57849951C>A	ENSP00000266646:p.Arg125Ser		Somatic	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.R125S	NM_031479.3	NP_113667.1	WXS	Illumina GAIIx	Phase_I	P58166	INHBE_HUMAN			2	589	+			125						Missense_Mutation	SNP	ENST00000266646.2	37	c.373C>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	5.638	0.302342	0.10678	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.80566	-1.39;-0.05	4.37	4.37	0.52481	Transforming growth factor-beta, N-terminal (1);	0.192014	0.47093	D	0.000253	T	0.72732	0.3497	L	0.31157	0.91	0.26237	N	0.97892	P	0.34864	0.473	B	0.41202	0.35	T	0.60393	-0.7272	10	0.11182	T	0.66	-5.6135	14.8069	0.69962	0.0:1.0:0.0:0.0	.	125	P58166	INHBE_HUMAN	S	70;125	ENSP00000450212:R70S;ENSP00000266646:R125S	ENSP00000266646:R125S	R	+	1	0	INHBE	56136218	0.820000	0.29190	0.985000	0.45067	0.367000	0.29736	1.242000	0.32755	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		5	245	5	245	---	---	---	---	A	57849951	C	A	57849951	3	1	9	1	0	0	0	0	1	0	0	0	7744	652	23	1	379	1	INHBE	12	57849951	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	740261	57849951	76001944	609	848										
AGAP2	116986	broad.mit.edu	37	chr12	58126738	58126738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgagcatctcccaccaccCgaggggaggaagcactgatc	11	15	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.chr12:58126738C>A	ENST00000547588.1	-	6	1573	c.1574G>T	c.(1573-1575)cGg>cTg	p.R525L	AGAP2_ENST00000257897.3_Missense_Mutation_p.R189L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	525	G domain.				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						TCCCACCACCCGAGGGGAGGA	0.547																																						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.(565-567)cGg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							176	171	173					12																	58126738		2203	4300	6503	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.chr12:58126738C>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.1574G>T	12.37:g.58126738C>A	ENSP00000449241:p.Arg525Leu		Somatic				AGAP2_ENST00000547588.1_Missense_Mutation_p.R525L	p.R189L	NM_014770.3	NP_055585.1	WXS	Illumina GAIIx	Phase_I	Q99490	AGAP2_HUMAN			6	651	-			525			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.566G>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410019	0.96072	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.35605	1.3;1.3	4.9	4.9	0.64082	.	0.137915	0.49916	D	0.000130	T	0.59742	0.2216	M	0.67569	2.06	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	T	0.62581	-0.6824	10	0.87932	D	0	.	17.3795	0.87401	0.0:1.0:0.0:0.0	.	189;525;525	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	189;525	ENSP00000257897:R189L;ENSP00000449241:R525L	ENSP00000257897:R189L	R	-	2	0	AGAP2	56413005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.719000	0.93026	0.655000	0.94253	CGG		0.547	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		5	358	5	358	---	---	---	---	A	58126738	C	A	58126738	3	1	9	1	0	0	0	0	1	0	0	0	368	652	23	1	2060	1	AGAP2	12	58126738	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	276787	58126738	75725157	610	849										
PTPRR	5801	broad.mit.edu	37	chr12	71095060	71095060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaaagggttcaatgttccCcaagctactcatgtccaatg	7	12	2	0	rs547690138		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.chr12:71095060C>A	ENST00000283228.2	-	7	1503	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	351					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)		TCAATGTTCCCCAAGCTACTC	0.428																																						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.(1051-1053)Ggg>Tgg		protein tyrosine phosphatase, receptor type, R							131	114	119					12																	71095060		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.chr12:71095060C>A	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.1051G>T	12.37:g.71095060C>A	ENSP00000283228:p.Gly351Trp		Somatic				PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W	p.G351W	NM_002849.3	NP_002840.2	WXS	Illumina GAIIx	Phase_I	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	1503	-			351					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1051G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327023	0.81690	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.25250	3.97;3.71;3.96;3.92;3.97;1.81	5.59	5.59	0.84812	.	0.000000	0.53938	D	0.000053	T	0.54886	0.1886	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56019	-0.8048	10	0.87932	D	0	-14.6063	19.956	0.97218	0.0:1.0:0.0:0.0	.	200;239;145;351	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	W	106;351;145;239;106;106	ENSP00000391750:G106W;ENSP00000283228:G351W;ENSP00000368054:G145W;ENSP00000339605:G239W;ENSP00000446943:G106W;ENSP00000449616:G106W	ENSP00000283228:G351W	G	-	1	0	PTPRR	69381327	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.911000	0.75746	2.788000	0.95919	0.557000	0.71058	GGG		0.428	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		5	169	5	169	---	---	---	---	A	71095060	C	A	71095060	3	1	9	1	0	0	0	0	1	0	0	0	12810	623	22	1	954	1	PTPRR	12	71095060	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	12968322	71095060	62756835	611	850										
LGR5	8549	broad.mit.edu	37	chr12	71898436	71898436	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcagctgctcccgaatccCctgcccagtctccgcttcct	7	19	2	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.chr12:71898436C>A	ENST00000266674.5	+	2	566	c.255C>A	c.(253-255)ccC>ccA	p.P85P	LGR5_ENST00000540815.2_Silent_p.P85P|LGR5_ENST00000536515.1_Silent_p.P85P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	85					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						TCCCGAATCCCCTGCCCAGTC	0.502																																						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.(253-255)ccC>ccA		leucine-rich repeat containing G protein-coupled receptor 5							227	207	214					12																	71898436		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71898436C>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.255C>A	12.37:g.71898436C>A			Somatic				LGR5_ENST00000536515.1_Silent_p.P85P|LGR5_ENST00000540815.2_Silent_p.P85P	p.P85P			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			2	566	+			85					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.255C>A	CCDS9000.1																																																																																				0.502	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		8	484	8	484	---	---	---	---	A	71898436	C	A	71898436	2	1	9	1	0	0	0	0	0	0	0	1	8757	610	22	1		1	LGR5	12	71898436	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	803376	71898436	61953459	612	851										
TRHDE	29953	broad.mit.edu	37	chr12	72667052	72667052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagaacttcaccttctccgGggaggtcaacgtggagatcg	14	10	3	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.chr12:72667052G>T	ENST00000261180.4	+	1	590	c.494G>T	c.(493-495)gGg>gTg	p.G165V	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	165					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						ACCTTCTCCGGGGAGGTCAAC	0.652																																						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.(493-495)gGg>gTg		thyrotropin-releasing hormone degrading enzyme							65	65	65					12																	72667052		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667052G>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.494G>T	12.37:g.72667052G>T	ENSP00000261180:p.Gly165Val		Somatic				TRHDE-AS1_ENST00000426250.3_RNA	p.G165V	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			1	590	+			165					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.494G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457111	0.84317	.	.	ENSG00000072657	ENST00000261180	T	0.14516	2.5	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.057630	0.64402	D	0.000002	T	0.49677	0.1571	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64457	-0.6403	10	0.87932	D	0	.	17.3223	0.87239	0.0:0.0:1.0:0.0	.	165	Q9UKU6	TRHDE_HUMAN	V	165	ENSP00000261180:G165V	ENSP00000261180:G165V	G	+	2	0	TRHDE	70953319	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.244000	0.95423	2.362000	0.80069	0.514000	0.50259	GGG		0.652	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	78	4	78	---	---	---	---	T	72667052	G	T	72667052	3	4	9	1	0	0	0	0	1	0	0	0	16476	1232	43	1	496	1	TRHDE	12	72667052	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	768616	72667052	61184843	613	852										
NAP1L1	4673	broad.mit.edu	37	chr12	76443026	76443026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcatctccttcttcttccCcttcctatattaaagttcaa	1	15	5	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.chr12:76443026C>A	ENST00000261182.8	-	14	1580	c.1094G>T	c.(1093-1095)gGg>gTg	p.G365V	NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	365	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)				TTCTTCTTCCCCTTCCTATAT	0.343																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(1093-1095)gGg>gTg		nucleosome assembly protein 1-like 1							105	105	105					12																	76443026		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76443026C>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.1094G>T	12.37:g.76443026C>A	ENSP00000261182:p.Gly365Val		Somatic				NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V	p.G365V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	WXS	Illumina GAIIx	Phase_I	P55209	NP1L1_HUMAN			14	1580	-		Colorectal(145;0.09)	365			Asp/Glu-rich (acidic).		B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.1094G>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941554	0.53079	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	T;T;T;T;T;T;T	0.37058	1.47;1.47;1.47;1.22;1.48;1.52;1.48	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68593	2.085	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.718;1.0	D;D;B;D	0.83275	0.994;0.994;0.277;0.996	T	0.50004	-0.8878	10	0.27785	T	0.31	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	323;297;302;365	B7Z9C2;B3KV44;F8W543;P55209	.;.;.;NP1L1_HUMAN	V	365;359;365;297;302;182;323	ENSP00000261182:G365V;ENSP00000450236:G359V;ENSP00000376947:G365V;ENSP00000409795:G297V;ENSP00000448167:G302V;ENSP00000437507:G182V;ENSP00000444759:G323V	ENSP00000261182:G365V	G	-	2	0	NAP1L1	74729293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.245000	0.78237	2.835000	0.97688	0.650000	0.86243	GGG		0.343	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		6	171	6	171	---	---	---	---	A	76443026	C	A	76443026	3	1	9	1	0	0	0	0	1	0	0	0	10156	623	22	1	89	1	NAP1L1	12	76443026	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3775974	76443026	57408869	614	853										
ZDHHC17	23390	broad.mit.edu	37	chr12	77222206	77222206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaatgcatagtgcattgccCcttgggatatatttggcaac	9	9	1	0	rs200268928	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.chr12:77222206C>A	ENST00000426126.2	+	10	1726	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	ZDHHC17_ENST00000334822.5_Silent_p.P359P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	359					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						GTGCATTGCCCCTTGGGATAT	0.313																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1075-1077)ccC>ccA		zinc finger, DHHC-type containing 17							303	287	292					12																	77222206		1834	4079	5913	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.chr12:77222206C>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.1077C>A	12.37:g.77222206C>A			Somatic				ZDHHC17_ENST00000334822.5_Silent_p.P359P	p.P359P	NM_015336.2	NP_056151.2	WXS	Illumina GAIIx	Phase_I	Q8IUH5	ZDH17_HUMAN			10	1726	+			359					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.1077C>A	CCDS44946.1																																																																																				0.313	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		9	678	9	678	---	---	---	---	A	77222206	C	A	77222206	2	1	9	1	0	0	0	0	0	0	0	1	17604	610	22	1		1	ZDHHC17	12	77222206	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	779180	77222206	56629689	615	854										
SYT1	6857	broad.mit.edu	37	chr12	79837937	79837937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaaaagaacacacttaaccCctactacaatgagtcattca	3	11	2	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.chr12:79837937C>A	ENST00000261205.4	+	10	1670	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|SYT1_ENST00000393240.3_Missense_Mutation_p.P338H	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	338	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				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						ACACTTAACCCCTACTACAAT	0.363																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(1012-1014)cCc>cAc		synaptotagmin I							182	164	171					12																	79837937		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.chr12:79837937C>A		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.1013C>A	12.37:g.79837937C>A	ENSP00000261205:p.Pro338His		Somatic				SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|RP1-78O14.1_ENST00000550268.1_lincRNA	p.P338H	NM_005639.2	NP_005630.1	WXS	Illumina GAIIx	Phase_I	P21579	SYT1_HUMAN			10	1670	+			338			C2 2.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.1013C>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871653	0.91587	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.45	5.45	0.79879	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	0.98498	0.9499	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	19.2881	0.94087	0.0:1.0:0.0:0.0	.	338;338	Q6AI31;P21579	.;SYT1_HUMAN	H	338;338;335;338	ENSP00000376932:P338H;ENSP00000261205:P338H;ENSP00000391056:P335H;ENSP00000447575:P338H	ENSP00000261205:P338H	P	+	2	0	SYT1	78362068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.567000	0.86603	0.655000	0.94253	CCC		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		6	326	6	326	---	---	---	---	A	79837937	C	A	79837937	3	1	9	1	0	0	0	0	1	0	0	0	15462	623	22	1	1039	1	SYT1	12	79837937	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2615731	79837937	54013958	616	855										
C12orf12	196477	broad.mit.edu	37	chr12	91347703	91347703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttcttccaccagcagcgGggcaagagactggttttcct	10	13	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.chr12:91347703G>T	ENST00000358859.2	-	1	1250	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	273	Glu-rich.																accAGCAGCGGGGCAAGAGAC	0.522																																						ENST00000358859.2																			0											c.(817-819)Ccg>Acg		coiled-coil glutamate-rich protein 1							230	250	243					12																	91347703		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347703G>T	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.817C>A	12.37:g.91347703G>T	ENSP00000351727:p.Pro273Thr		Somatic				CCER1_ENST00000548187.1_Intron	p.P273T	NM_152638.2	NP_689851.1	WXS	Illumina GAIIx	Phase_I					1	1250	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.817C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825317	0.16749	.	.	ENSG00000197651	ENST00000358859	T	0.25912	1.77	4.13	-0.00439	0.14022	.	0.502546	0.14986	N	0.286931	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.27076	0.076	T	0.18967	-1.0320	10	0.45353	T	0.12	-3.5725	3.1536	0.06497	0.0975:0.3237:0.4126:0.1662	.	273	Q8TC90	CL012_HUMAN	T	273	ENSP00000351727:P273T	ENSP00000351727:P273T	P	-	1	0	C12orf12	89871834	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.003000	0.13083	-0.107000	0.12088	0.467000	0.42956	CCG		0.522	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		8	587	8	587	---	---	---	---	T	91347703	G	T	91347703	3	4	9	1	0	0	0	0	1	0	0	0	1676	1232	43	1	407	1	C12orf12	12	91347703	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11509766	91347703	42504192	617	856										
SLC25A3	5250	broad.mit.edu	37	chr12	98989599	98989599	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacacactgctgtggttccCctggatttagtgaaatgccg	10	11	0	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.chr12:98989599C>A	ENST00000228318.3	+	3	402				SLC25A3_ENST00000188376.5_Silent_p.P84P|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3						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)		CTGTGGTTCCCCTGGATTTAG	0.408																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(250-252)ccC>ccA		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							179	167	171					12																	98989599		2203	4300	6503	SO:0001627	intron_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98989599C>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.282+264C>A	12.37:g.98989599C>A			Somatic				SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P	p.P84P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	WXS	Illumina GAIIx	Phase_I	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	2	606	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	85					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.252C>A	CCDS9066.1																																																																																				0.408	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		7	203	7	203	---	---	---	---	A	98989599	C	A	98989599	1	1	9	0	1	0	0	0	0	0	0	0	14493	610	22	1		1	SLC25A3	12	98989599	Intron	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7641896	98989599	34862296	618	857										
GNPTAB	79158	broad.mit.edu	37	chr12	102158274	102158274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtggtctccaagtccagGggtggattctgaccctggtc	14	11	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.chr12:102158274G>T	ENST00000299314.7	-	13	2683	c.2421C>A	c.(2419-2421)ccC>ccA	p.P807P	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	807	DMAP-interaction.				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						CCAAGTCCAGGGGTGGATTCT	0.458																																						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.(2419-2421)ccC>ccA		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							130	131	130					12																	102158274		2203	4300	6503	SO:0001819	synonymous_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.chr12:102158274G>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.2421C>A	12.37:g.102158274G>T			Somatic					p.P807P	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	Q3T906	GNPTA_HUMAN			13	2683	-			807					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.2421C>A	CCDS9088.1																																																																																				0.458	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			7	323	7	323	---	---	---	---	T	102158274	G	T	102158274	2	4	9	1	0	0	0	0	0	0	0	1	6545	1219	43	1		1	GNPTAB	12	102158274	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3168675	102158274	31693621	619	858										
NUP37	79023	broad.mit.edu	37	chr12	102512208	102512208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caattaggtttcctgaatccCcattctcaaagggattaaat	6	9	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.chr12:102512208C>A	ENST00000552283.1	-	2	228	c.89G>T	c.(88-90)gGg>gTg	p.G30V	PARPBP_ENST00000327680.2_5'Flank|PARPBP_ENST00000378128.3_5'Flank|PARPBP_ENST00000537257.1_5'Flank|PARPBP_ENST00000541394.1_5'Flank|PARPBP_ENST00000358383.5_5'Flank|PARPBP_ENST00000392911.2_5'Flank|PARPBP_ENST00000543784.1_5'Flank|NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	30					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						TCCTGAATCCCCATTCTCAAA	0.408																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(88-90)gGg>gTg		nucleoporin 37kDa							237	212	221					12																	102512208		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.chr12:102512208C>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.89G>T	12.37:g.102512208C>A	ENSP00000448054:p.Gly30Val		Somatic				NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V	p.G30V			WXS	Illumina GAIIx	Phase_I	Q8NFH4	NUP37_HUMAN			2	228	-			30					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.89G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409171	0.83340	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744;ENST00000550459	T;T	0.69926	-0.44;-0.44	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.84128	0.0410	10	0.66056	D	0.02	-12.0063	18.8164	0.92079	0.0:1.0:0.0:0.0	.	30;30	B4DKV8;Q8NFH4	.;NUP37_HUMAN	V	30	ENSP00000448054:G30V;ENSP00000251074:G30V	ENSP00000251074:G30V	G	-	2	0	NUP37	101036338	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.989000	0.76219	2.446000	0.82766	0.650000	0.86243	GGG		0.408	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		6	328	6	328	---	---	---	---	A	102512208	C	A	102512208	3	1	9	1	0	0	0	0	1	0	0	0	10764	623	22	1	927	1	NUP37	12	102512208	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	353934	102512208	31339687	620	859										
SART3	9733	broad.mit.edu	37	chr12	108931915	108931915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccataaggcaactgtccagGggcagtttctaatagcgcgg	12	10	1	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.chr12:108931915G>T	ENST00000228284.3	-	8	1361	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	SART3_ENST00000431469.2_Missense_Mutation_p.P376H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	376					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)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGTCCAGGGGCAGTTTCT	0.418									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1126-1128)cCc>cAc		squamous cell carcinoma antigen recognized by T cells 3							118	118	118					12																	108931915		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.chr12:108931915G>T	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.1127C>A	12.37:g.108931915G>T	ENSP00000228284:p.Pro376His		Somatic				SART3_ENST00000431469.2_Missense_Mutation_p.P376H	p.P376H	NM_014706.3	NP_055521.1	WXS	Illumina GAIIx	Phase_I	Q15020	SART3_HUMAN			8	1361	-			376					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1127C>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236341	0.95240	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.34859	1.34;1.34;1.34	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	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	0.97110	1.0;1.0;1.0;1.0	T	0.74237	-0.3730	10	0.87932	D	0	-23.2788	20.8598	0.99761	0.0:0.0:1.0:0.0	.	324;394;376;376	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	H	376;376;324;394	ENSP00000228284:P376H;ENSP00000414453:P376H;ENSP00000449386:P394H	ENSP00000228284:P376H	P	-	2	0	SART3	107456045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.294000	0.96088	2.937000	0.99478	0.650000	0.86243	CCC		0.418	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	196	7	196	---	---	---	---	T	108931915	G	T	108931915	3	4	9	1	0	0	0	0	1	0	0	0	13847	1232	43	1	1812	1	SART3	12	108931915	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6419707	108931915	24919980	621	860										
USP30	84749	broad.mit.edu	37	chr12	109522779	109522779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgaatcagccaggggcccCcaaaacacagatttttatga	8	11	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.chr12:109522779C>A	ENST00000257548.5	+	12	1283	c.1190C>A	c.(1189-1191)cCc>cAc	p.P397H	USP30_ENST00000392784.2_Missense_Mutation_p.P366H	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	397	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						CCAGGGGCCCCCAAAACACAG	0.493																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1189-1191)cCc>cAc		ubiquitin specific peptidase 30							128	149	142					12																	109522779		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.chr12:109522779C>A	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.1190C>A	12.37:g.109522779C>A	ENSP00000257548:p.Pro397His		Somatic				USP30_ENST00000392784.2_Missense_Mutation_p.P366H	p.P397H	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			12	1283	+			397					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1190C>A	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868896	0.72065	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73681	-0.77;-0.77	5.5	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.431594	0.28442	N	0.015327	T	0.75273	0.3827	L	0.43923	1.385	0.32456	N	0.544724	P;P	0.48089	0.905;0.873	P;P	0.52267	0.587;0.694	T	0.81573	-0.0871	10	0.66056	D	0.02	-33.3489	12.3659	0.55228	0.0:0.8304:0.1696:0.0	.	397;366	Q70CQ3;B3KUS5	UBP30_HUMAN;.	H	366;397	ENSP00000376535:P366H;ENSP00000257548:P397H	ENSP00000257548:P397H	P	+	2	0	USP30	108007162	0.736000	0.28164	0.984000	0.44739	0.997000	0.91878	2.657000	0.46724	1.303000	0.44873	0.650000	0.86243	CCC		0.493	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		8	546	8	546	---	---	---	---	A	109522779	C	A	109522779	3	1	9	1	0	0	0	0	1	0	0	0	17058	623	22	1	1236	1	USP30	12	109522779	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	590864	109522779	24329116	622	861										
ATP2A2	488	broad.mit.edu	37	chr12	110771909	110771909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatttgataccgaattgaaGggtctttctaaaatagaacg	9	5	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.chr12:110771909G>T	ENST00000539276.2	+	11	1489	c.1380G>T	c.(1378-1380)aaG>aaT	p.K460N	ATP2A2_ENST00000395494.2_Missense_Mutation_p.K433N|ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	460					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						CCGAATTGAAGGGTCTTTCTA	0.388																																						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.(1297-1299)aaG>aaT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							173	173	173					12																	110771909		2203	4300	6503	SO:0001583	missense	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.chr12:110771909G>T		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.1380G>T	12.37:g.110771909G>T	ENSP00000440045:p.Lys460Asn		Somatic				ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.K460N	p.K433N			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			10	1862	+			460					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1299G>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.758021|1.758021	0.31137|0.31137	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.82984	.|-1.67;-1.67;-1.67	6.11|6.11	1.83|1.83	0.25207|0.25207	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.209202	.|0.53938	.|D	.|0.000053	T|T	0.56615|0.56615	0.1997|0.1997	N|N	0.03917|0.03917	-0.325|-0.325	0.40938|0.40938	D|D	0.984442|0.984442	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.12837	.|0.005;0.003;0.008	T|T	0.49485|0.49485	-0.8935|-0.8935	5|10	.|0.06099	.|T	.|0.92	.|.	8.2343|8.2343	0.31616|0.31616	0.526:0.0:0.474:0.0|0.526:0.0:0.474:0.0	.|.	.|433;460;460	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	W|N	351|460;433;460	.|ENSP00000311186:K460N;ENSP00000378872:K433N;ENSP00000440045:K460N	.|ENSP00000311186:K460N	G|K	+|+	1|3	0|2	ATP2A2|ATP2A2	109256292|109256292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.103000|1.103000	0.31062|0.31062	0.476000|0.476000	0.27440|0.27440	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.388	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		6	359	6	359	---	---	---	---	T	110771909	G	T	110771909	3	4	9	1	0	0	0	0	1	0	0	0	1137	991	35	1	1422	1	ATP2A2	12	110771909	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1249130	110771909	23079986	623	862										
ATXN2	6311	broad.mit.edu	37	chr12	111893858	111893858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacgtgggccatgtggggtGggttggtatacgccggctga	19	7	0	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.chr12:111893858G>T	ENST00000377617.3	-	23	3880	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1240					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)	p.P1240Q(1)		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						CATGTGGGGTGGGTTGGTATA	0.517																																						ENST00000377617.3																			1	Substitution - Missense(1)	p.P1240Q(1)	lung(1)	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.(3718-3720)cCa>cAa		ataxin 2							328	294	305					12																	111893858		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.chr12:111893858G>T	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.3719C>A	12.37:g.111893858G>T	ENSP00000366843:p.Pro1240Gln		Somatic				ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q	p.P1240Q	NM_002973.3	NP_002964.3	WXS	Illumina GAIIx	Phase_I	Q99700	ATX2_HUMAN			23	3880	-			1240					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3719C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985259	0.74474	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.67345	-0.26	5.59	5.59	0.84812	.	0.052523	0.85682	D	0.000000	T	0.71719	0.3373	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.997;0.991;0.999;0.996	P;D;P;D;P	0.67900	0.907;0.916;0.881;0.954;0.907	T	0.72997	-0.4121	10	0.48119	T	0.1	-7.9535	19.9595	0.97236	0.0:0.0:1.0:0.0	.	241;1240;933;975;977	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	Q	295;977;1240;241;975;933;165	ENSP00000366843:P1240Q	ENSP00000366843:P1240Q	P	-	2	0	ATXN2	110378241	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.721000	0.61951	2.797000	0.96272	0.563000	0.77884	CCA		0.517	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		6	251	6	251	---	---	---	---	T	111893858	G	T	111893858	3	4	9	1	0	0	0	0	1	0	0	0	1211	1348	47	1	234	1	ATXN2	12	111893858	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1121949	111893858	21958037	624	863										
TRAFD1	10906	broad.mit.edu	37	chr12	112589916	112589916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acattgtgccctctttctccCctgggccttcagggagatac	9	14	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.chr12:112589916C>A	ENST00000257604.5	+	10	2208	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	531					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.P531T(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTCTTTCTCCCCTGGGCCTTC	0.547																																						ENST00000257604.5																			1	Substitution - Missense(1)	p.P531T(1)	lung(1)	kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1591-1593)Cct>Act		TRAF-type zinc finger domain containing 1							82	91	88					12																	112589916		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112589916C>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.1591C>A	12.37:g.112589916C>A	ENSP00000257604:p.Pro531Thr		Somatic				TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T	p.P531T	NM_001143906.1	NP_001137378.1	WXS	Illumina GAIIx	Phase_I	O14545	TRAD1_HUMAN			10	2208	+			531					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1591C>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364382	0.11296	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28454	1.61;1.61	6.16	1.27	0.21489	.	0.829951	0.10892	N	0.622582	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	10	0.62326	D	0.03	-0.0684	2.1423	0.03778	0.1371:0.5107:0.1326:0.2196	.	531	O14545	TRAD1_HUMAN	T	531	ENSP00000396526:P531T;ENSP00000257604:P531T	ENSP00000257604:P531T	P	+	1	0	TRAFD1	111074299	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.615000	0.24329	-0.026000	0.13895	-0.912000	0.02778	CCT		0.547	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		6	253	6	253	---	---	---	---	A	112589916	C	A	112589916	3	1	9	1	0	0	0	0	1	0	0	0	16444	623	22	1	1625	1	TRAFD1	12	112589916	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	696058	112589916	21261979	625	864										
C12orf51	283450	broad.mit.edu	37	chr12	112622379	112622379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctccatgctgtctgtgccgGggaaggccagtgtcttctcg	13	13	3	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.chr12:112622379G>T	ENST00000430131.2	-	60	10270	c.9125C>A	c.(9124-9126)cCc>cAc	p.P3042H	HECTD4_ENST00000550722.1_Missense_Mutation_p.P3318H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3042					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)										GTCTGTGCCGGGGAAGGCCAG	0.632																																						ENST00000550722.1																			0											c.(9952-9954)cCc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							69	86	80					12																	112622379		2181	4270	6451	SO:0001583	missense	283450							g.chr12:112622379G>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.9125C>A	12.37:g.112622379G>T	ENSP00000404379:p.Pro3042His		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.P3042H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H	p.P3318H	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					61	10348	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9953C>A		.	.	.	.	.	.	.	.	.	.	G	3.819	-0.038101	0.07497	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45668	0.89;0.89;0.89	5.37	4.43	0.53597	.	.	.	.	.	T	0.27278	0.0669	N	0.12182	0.205	0.09310	N	1	B	0.25955	0.138	B	0.17433	0.018	T	0.19192	-1.0313	9	0.87932	D	0	.	13.0639	0.59022	0.0:0.3527:0.6473:0.0	.	3042	Q9Y4D8	K0614_HUMAN	H	3292;3042;3318	ENSP00000366783:P3292H;ENSP00000404379:P3042H;ENSP00000449784:P3318H	ENSP00000366783:P3292H	P	-	2	0	C12orf51	111106762	0.363000	0.24989	0.067000	0.19924	0.004000	0.04260	2.189000	0.42621	2.531000	0.85337	0.655000	0.94253	CCC		0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	55	5	55	---	---	---	---	T	112622379	G	T	112622379	3	4	9	1	0	0	0	0	1	0	0	0	1696	1232	43	1	2929	1	C12orf51	12	112622379	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	32463	112622379	21229516	626	865										
TPCN1	53373	broad.mit.edu	37	chr12	113698209	113698209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catccacgactcccaggcccCcagtctcagctctgggggtg	11	17	2	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.chr12:113698209C>A	ENST00000335509.6	+	3	463	c.149C>A	c.(148-150)cCc>cAc	p.P50H	TPCN1_ENST00000550785.1_Missense_Mutation_p.P122H|TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000392569.4_5'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	50					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						TCCCAGGCCCCCAGTCTCAGC	0.562																																						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.(364-366)cCc>cAc		two pore segment channel 1							52	50	50					12																	113698209		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.chr12:113698209C>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.149C>A	12.37:g.113698209C>A	ENSP00000335300:p.Pro50His		Somatic				TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000335509.6_Missense_Mutation_p.P50H|TPCN1_ENST00000392569.4_5'UTR	p.P122H	NM_001143819.1	NP_001137291.1	WXS	Illumina GAIIx	Phase_I	Q9ULQ1	TPC1_HUMAN			4	534	+			50					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.365C>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181200	0.21787	.	.	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	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	4.49	3.6	0.41247	.	0.521356	0.19835	N	0.104987	T	0.30541	0.0768	N	0.22421	0.69	0.31541	N	0.659945	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.24261	-1.0165	10	0.45353	T	0.12	-17.7011	6.9045	0.24301	0.1725:0.7381:0.0:0.0895	.	122;50	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	H	26;105;136;50;122;50;122;122	ENSP00000447806:P26H;ENSP00000449560:P105H;ENSP00000447569:P136H;ENSP00000447073:P50H;ENSP00000447263:P122H;ENSP00000335300:P50H;ENSP00000448083:P122H;ENSP00000438125:P122H	ENSP00000335300:P50H	P	+	2	0	TPCN1	112182592	0.998000	0.40836	0.883000	0.34634	0.322000	0.28314	3.593000	0.54001	1.119000	0.41883	0.467000	0.42956	CCC		0.562	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		4	73	4	73	---	---	---	---	A	113698209	C	A	113698209	3	1	9	1	0	0	0	0	1	0	0	0	16392	623	22	1	375	1	TPCN1	12	113698209	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1075830	113698209	20153686	627	866										
TAOK3	51347	broad.mit.edu	37	chr12	118693363	118693363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgggtccttcagcacccCtttacgcatgatggccagta	9	14	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.chr12:118693363C>A	ENST00000392533.3	-	3	500	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	4					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)					TTCAGCACCCCTTTACGCATG	0.413																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(10-12)Ggg>Tgg		TAO kinase 3							133	134	133					12																	118693363		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.chr12:118693363C>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.10G>T	12.37:g.118693363C>A	ENSP00000376317:p.Gly4Trp		Somatic				TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	p.G4W	NM_016281.3	NP_057365.3	WXS	Illumina GAIIx	Phase_I	Q9H2K8	TAOK3_HUMAN			3	500	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		4					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.10G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329916	0.60743	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532;ENST00000541786;ENST00000539872	T;T;T;T;T;T	0.76448	-1.02;-1.02;1.22;3.27;0.91;0.89	4.88	3.97	0.46021	.	0.061927	0.64402	D	0.000004	T	0.78298	0.4261	N	0.19112	0.55	0.80722	D	1	D	0.56521	0.976	D	0.65010	0.931	T	0.81409	-0.0946	10	0.87932	D	0	.	13.5386	0.61659	0.0:0.9242:0.0:0.0758	.	4	Q9H2K8	TAOK3_HUMAN	W	4	ENSP00000416374:G4W;ENSP00000376317:G4W;ENSP00000443465:G4W;ENSP00000438820:G4W;ENSP00000444057:G4W;ENSP00000440315:G4W	ENSP00000376317:G4W	G	-	1	0	TAOK3	117177746	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	5.517000	0.67061	1.268000	0.44264	0.655000	0.94253	GGG		0.413	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		6	379	6	379	---	---	---	---	A	118693363	C	A	118693363	3	1	9	1	0	0	0	0	1	0	0	0	15546	681	24	1	2762	1	TAOK3	12	118693363	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4995154	118693363	15158532	628	867										
GCN1L1	10985	broad.mit.edu	37	chr12	120582545	120582545	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtagccatctcggacatgGggtgcaatgtccactttgct	11	10	1	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.chr12:120582545G>T	ENST00000300648.6	-	41	5262	c.5250C>A	c.(5248-5250)ccC>ccA	p.P1750P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1750					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)					CTCGGACATGGGGTGCAATGT	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.(5248-5250)ccC>ccA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							181	186	184					12																	120582545		2055	4196	6251	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582545G>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.5250C>A	12.37:g.120582545G>T			Somatic					p.P1750P	NM_006836.1	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			41	5262	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1750					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5250C>A	CCDS41847.1																																																																																				0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	320	7	320	---	---	---	---	T	120582545	G	T	120582545	2	4	9	1	0	0	0	0	0	0	0	1	6299	1219	43	1		1	GCN1L1	12	120582545	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1889182	120582545	13269350	629	868										
VPS37B	79720	broad.mit.edu	37	chr12	123355528	123355528	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctttcaacgtgtccagctgGggctggtacaaaaggtttcc	12	10	1	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.chr12:123355528G>T	ENST00000267202.2	-	2	573	c.192C>A	c.(190-192)ccC>ccA	p.P64P		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	64	Interaction with IST1.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGTCCAGCTGGGGCTGGTACA	0.453																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(190-192)ccC>ccA		vacuolar protein sorting 37 homolog B (S. cerevisiae)							121	119	120					12																	123355528		2203	4300	6503	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123355528G>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"vacuolar protein sorting 37B (yeast)"			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.192C>A	12.37:g.123355528G>T			Somatic					p.P64P	NM_024667.2	NP_078943.1	WXS	Illumina GAIIx	Phase_I	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	2	573	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		64			Interaction with IST1.			Silent	SNP	ENST00000267202.2	37	c.192C>A	CCDS9239.1																																																																																				0.453	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		6	277	6	277	---	---	---	---	T	123355528	G	T	123355528	2	4	9	1	0	0	0	0	0	0	0	1	17203	1219	43	1		1	VPS37B	12	123355528	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2772983	123355528	10496367	630	869										
SBNO1	55206	broad.mit.edu	37	chr12	123812310	123812310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaaatggagtaccctcaccCcatatgccaagacggttcat	7	13	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.chr12:123812310C>A	ENST00000602398.1	-	12	1609	c.1482G>T	c.(1480-1482)tgG>tgT	p.W494C	SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C|SBNO1_ENST00000420886.2_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	494					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)		TACCCTCACCCCATATGCCAA	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.(1480-1482)tgG>tgT		strawberry notch homolog 1 (Drosophila)							78	79	79					12																	123812310		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812310C>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.1482G>T	12.37:g.123812310C>A	ENSP00000473665:p.Trp494Cys		Somatic				SBNO1_ENST00000602398.1_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C	p.W494C	NM_001167856.1	NP_001161328.1	WXS	Illumina GAIIx	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	11	1481	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		494					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1482G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529561	0.85706	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93426	-3.22;-3.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.98285	1.0510	10	0.87932	D	0	-10.6094	20.5596	0.99324	0.0:1.0:0.0:0.0	.	494;493;492	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	C	494;493;493	ENSP00000387361:W494C;ENSP00000267176:W493C	ENSP00000267176:W493C	W	-	3	0	SBNO1	122378263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.868000	0.98415	0.555000	0.69702	TGG		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	135	5	135	---	---	---	---	A	123812310	C	A	123812310	3	1	9	1	0	0	0	0	1	0	0	0	13862	624	22	1	2783	1	SBNO1	12	123812310	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	456782	123812310	10039585	631	870										
GPR133	283383	broad.mit.edu	37	chr12	131487813	131487813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacctgcacggcagcacgccCcaggtcaccgtggagggctc	13	16	1	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.chr12:131487813C>A	ENST00000261654.5	+	10	1669	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	370					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)		GCAGCACGCCCCAGGTCACCG	0.622																																						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.(1108-1110)ccC>ccA		G protein-coupled receptor 133							103	85	91					12																	131487813		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487813C>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.1110C>A	12.37:g.131487813C>A			Somatic				GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	p.P370P	NM_198827.3	NP_942122.2	WXS	Illumina GAIIx	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1669	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		370					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1110C>A	CCDS9272.1																																																																																				0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		5	145	5	145	---	---	---	---	A	131487813	C	A	131487813	2	1	9	1	0	0	0	0	0	0	0	1	6643	610	22	1		1	GPR133	12	131487813	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7675503	131487813	2364082	632	871										
POLE	5426	broad.mit.edu	37	chr12	133233834	133233834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgtttgacacgtggcactGggttctttacctgtgtgagg	15	7	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.chr12:133233834G>T	ENST00000320574.5	-	29	3513	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q	POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1157					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)	ACGTGGCACTGGGTTCTTTAC	0.532								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.(3469-3471)cCa>cAa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							105	103	104					12																	133233834		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.chr12:133233834G>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.3470C>A	12.37:g.133233834G>T	ENSP00000322570:p.Pro1157Gln		Somatic				POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	p.P1157Q	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	29	3513	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1157					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3470C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097834	0.94197	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56805	-0.7918	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	1130;1157	F5H1D6;Q07864	.;DPOE1_HUMAN	Q	1157;1168;1130;937;134;1092	ENSP00000322570:P1157Q;ENSP00000406383:P1168Q;ENSP00000445753:P1130Q;ENSP00000442519:P937Q	ENSP00000322570:P1157Q	P	-	2	0	POLE	131743907	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.702000	0.98712	2.937000	0.99478	0.650000	0.86243	CCA		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	151	5	151	---	---	---	---	T	133233834	G	T	133233834	3	4	9	1	0	0	0	0	1	0	0	0	12196	1348	47	1	3474	1	POLE	12	133233834	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1746021	133233834	618061	633	872										
PSPC1	55269	broad.mit.edu	37	chr13	20356679	20356679	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcgtgtacgtcttctcgccCggcttgaggaaactcttgat	11	11	3	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.chr13:20356679C>A	ENST00000338910.4	-	1	378	c.219G>T	c.(217-219)ccG>ccT	p.P73P		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	73					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)		TCTTCTCGCCCGGCTTGAGGA	0.642																																						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.(217-219)ccG>ccT		paraspeckle component 1							61	64	63					13																	20356679		1992	4185	6177	SO:0001819	synonymous_variant	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20356679C>A	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.219G>T	13.37:g.20356679C>A			Somatic					p.P73P	NM_001042414.2	NP_001035879.1	WXS	Illumina GAIIx	Phase_I	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)	1	378	-		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)	73					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP	ENST00000338910.4	37	c.219G>T	CCDS41870.1																																																																																				0.642	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			4	90	4	90	---	---	---	---	A	20356679	C	A	20356679	2	1	9	1	0	0	0	0	0	0	0	1	12716	639	23	1		1	PSPC1	13	20356679	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		20356679	94813199	634	873										
RNF17	56163	broad.mit.edu	37	chr13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaaatgactactactagtAttaatgaccagctagttaaa	6	7	0	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.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	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		Somatic				RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	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	55	127	---	---	---	---	G	25416253	A	G	25416253	3	3	9	1	0	0	0	0	1	0	0	0	13461	449	16	2	2631	2	RNF17	13	25416253	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08	5059574	25416253	89753625	635	874										
LNX2	222484	broad.mit.edu	37	chr13	28136686	28136686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaggtcaagaataaaaaccCctggctcatctgtccttcgc	7	13	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.chr13:28136686C>A	ENST00000316334.3	-	5	1217	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	363	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATAAAAACCCCTGGCTCATC	0.522																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1087-1089)gGg>gTg		ligand of numb-protein X 2							123	129	127					13																	28136686		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28136686C>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1088G>T	13.37:g.28136686C>A	ENSP00000325929:p.Gly363Val		Somatic					p.G363V	NM_153371.3	NP_699202.1	WXS	Illumina GAIIx	Phase_I	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1217	-		Lung SC(185;0.0156)	363			PDZ 2.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1088G>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782887	0.70222	.	.	ENSG00000139517	ENST00000316334	T	0.35236	1.32	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77718	-0.2483	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	363	Q8N448	LNX2_HUMAN	V	363	ENSP00000325929:G363V	ENSP00000325929:G363V	G	-	2	0	LNX2	27034686	1.000000	0.71417	0.705000	0.30386	0.249000	0.25844	7.807000	0.86032	2.782000	0.95742	0.655000	0.94253	GGG		0.522	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			7	295	7	295	---	---	---	---	A	28136686	C	A	28136686	3	1	9	1	0	0	0	0	1	0	0	0	8866	623	22	1	1008	1	LNX2	13	28136686	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2720433	28136686	87033192	636	875										
C13orf26	122046	broad.mit.edu	37	chr13	31531071	31531071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacactaaagaactgcctccCttggaaaatcccggcttcaa	7	13	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.chr13:31531071C>A	ENST00000380473.3	+	4	387	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	125																	AACTGCCTCCCTTGGAAAATC	0.388																																						ENST00000380473.3																			0											c.(373-375)cCt>cAt		testis expressed 26							126	114	118					13																	31531071		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31531071C>A	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.374C>A	13.37:g.31531071C>A	ENSP00000369840:p.Pro125His		Somatic					p.P125H	NM_152325.1	NP_689538.1	WXS	Illumina GAIIx	Phase_I	Q8N6G2	CM026_HUMAN			4	387	+			125						Missense_Mutation	SNP	ENST00000380473.3	37	c.374C>A	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982814	0.53827	.	.	ENSG00000175664	ENST00000380473	T	0.51325	0.71	4.76	4.76	0.60689	.	0.105638	0.40222	N	0.001152	T	0.65133	0.2662	M	0.68952	2.095	0.37999	D	0.934175	D	0.89917	1.0	D	0.72075	0.976	T	0.71906	-0.4451	10	0.66056	D	0.02	-6.5827	13.2598	0.60098	0.0:1.0:0.0:0.0	.	125	Q8N6G2	CM026_HUMAN	H	125	ENSP00000369840:P125H	ENSP00000369840:P125H	P	+	2	0	C13orf26	30429071	0.972000	0.33761	0.413000	0.26509	0.038000	0.13279	1.206000	0.32321	2.150000	0.67090	0.650000	0.86243	CCT		0.388	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		5	117	5	117	---	---	---	---	A	31531071	C	A	31531071	3	1	9	1	0	0	0	0	1	0	0	0	1722	681	24	1	388	1	C13orf26	13	31531071	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3394385	31531071	83638807	637	876										
KL	9365	broad.mit.edu	37	chr13	33635044	33635044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctctgggtaaccagtccCaggtgaaccacaccatcctg	8	16	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.chr13:33635044C>A	ENST00000380099.3	+	4	1836	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	610	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)		TAACCAGTCCCAGGTGAACCA	0.582																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1828-1830)Cag>Aag		klotho							115	104	108					13																	33635044		2203	4300	6503	SO:0001583	missense	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.chr13:33635044C>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.1828C>A	13.37:g.33635044C>A	ENSP00000369442:p.Gln610Lys		Somatic				KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.Q610K	NM_004795.3	NP_004786.2	WXS	Illumina GAIIx	Phase_I	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	1836	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	610			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1828C>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	4.925	0.171908	0.09391	.	.	ENSG00000133116	ENST00000380099	T	0.27890	1.64	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.431042	0.27164	N	0.020625	T	0.19927	0.0479	L	0.27053	0.805	0.18873	N	0.999982	B	0.11235	0.004	B	0.17098	0.017	T	0.19516	-1.0303	10	0.05620	T	0.96	-20.421	13.7967	0.63175	0.0:0.9268:0.0:0.0732	.	610	Q9UEF7	KLOT_HUMAN	K	610	ENSP00000369442:Q610K	ENSP00000369442:Q610K	Q	+	1	0	KL	32533044	0.320000	0.24616	0.943000	0.38184	0.110000	0.19582	1.460000	0.35244	2.641000	0.89580	0.655000	0.94253	CAG		0.582	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			5	182	5	182	---	---	---	---	A	33635044	C	A	33635044	3	1	9	1	0	0	0	0	1	0	0	0	8331	595	21	1	1842	1	KL	13	33635044	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2103973	33635044	81534834	638	877										
ZC3H13	23091	broad.mit.edu	37	chr13	46543054	46543054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgggctgaatcattggatgGggagcgaagacgaccagacg	16	7	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.chr13:46543054G>T	ENST00000242848.4	-	14	3973	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T|ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1209	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)		TCATTGGATGGGGAGCGAAGA	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.(3625-3627)Cca>Aca		zinc finger CCCH-type containing 13							200	183	189					13																	46543054		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543054G>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.3625C>A	13.37:g.46543054G>T	ENSP00000242848:p.Pro1209Thr		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T	p.P1209T			WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3973	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1209			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3625C>A		.	.	.	.	.	.	.	.	.	.	G	16.77	3.214243	0.58452	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.62105	1.12;2.11;0.05	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000014	T	0.72661	0.3488	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74931	-0.3496	10	0.72032	D	0.01	.	19.5244	0.95197	0.0:0.0:1.0:0.0	.	1209;1209	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	1209;165;1209	ENSP00000242848:P1209T;ENSP00000368201:P165T;ENSP00000282007:P1209T	ENSP00000242848:P1209T	P	-	1	0	ZC3H13	45441055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.055000	0.93873	2.683000	0.91414	0.655000	0.94253	CCA		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	211	7	211	---	---	---	---	T	46543054	G	T	46543054	3	4	9	1	0	0	0	0	1	0	0	0	17562	1232	43	1	1085	1	ZC3H13	13	46543054	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	12908010	46543054	68626824	639	878										
LRCH1	23143	broad.mit.edu	37	chr13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcatcaggaatttcaaccgGagccttcccttttgggtgac	9	11	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.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*		Somatic				LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	p.E383*	NM_001164213.1	NP_001157685	WXS	Illumina GAIIx	Phase_I	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	84	82	---	---	---	---	T	47269054	G	T	47269054	4	4	9	1	0	0	0	0	0	1	0	0	8932	1175	41	3	1181	3	LRCH1	13	47269054	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	726000	47269054	67900824	640	879										
INTS6	26512	broad.mit.edu	37	chr13	51961586	51961586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaatgacctataggaaccCcagttttaggatttggtctg	10	9	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.chr13:51961586C>A	ENST00000311234.4	-	7	1302	c.830G>T	c.(829-831)gGg>gTg	p.G277V	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V|INTS6_ENST00000490542.1_5'Flank	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	277					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TATAGGAACCCCAGTTTTAGG	0.423																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(829-831)gGg>gTg		integrator complex subunit 6							90	83	86					13																	51961586		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51961586C>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.830G>T	13.37:g.51961586C>A	ENSP00000310260:p.Gly277Val		Somatic				INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V	p.G277V	NM_012141.2	NP_036273.1	WXS	Illumina GAIIx	Phase_I	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	7	1302	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	277					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.830G>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762971	0.89932	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	T;T;T	0.57907	0.37;0.37;0.37	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82331	-0.0510	10	0.66056	D	0.02	-6.0931	17.2129	0.86935	0.0:1.0:0.0:0.0	.	277	Q9UL03	INT6_HUMAN	V	277;264;99	ENSP00000310260:G277V;ENSP00000381187:G264V;ENSP00000419871:G99V	ENSP00000310260:G277V	G	-	2	0	INTS6	50859587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.356000	0.79943	0.561000	0.74099	GGG		0.423	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		5	182	5	182	---	---	---	---	A	51961586	C	A	51961586	3	1	9	1	0	0	0	0	1	0	0	0	7782	623	22	1	1881	1	INTS6	13	51961586	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4692532	51961586	63208292	641	880										
ATP7B	540	broad.mit.edu	37	chr13	52524476	52524476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catccactggaaactttcccCcagggaccaccttgacgata	7	15	0	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.chr13:52524476C>A	ENST00000242839.4	-	10	2663	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	836					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)	AAACTTTCCCCCAGGGACCAC	0.547									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.(2506-2508)gGg>gTg		ATPase, Cu++ transporting, beta polypeptide							76	81	79					13																	52524476		2098	4233	6331	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.chr13:52524476C>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.2507G>T	13.37:g.52524476C>A	ENSP00000242839:p.Gly836Val		Somatic				ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000482841.1_5'UTR	p.G836V	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2663	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	836					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2507G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093947	0.94149	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.62	5.62	0.85841	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.99156	4.45	0.80722	D	1	D;D;D;D;B;D;D	0.89917	0.999;1.0;1.0;0.999;0.058;1.0;1.0	D;D;D;D;B;D;D	0.97110	0.938;0.998;1.0;0.959;0.005;1.0;0.997	D	0.99150	1.0858	10	0.87932	D	0	-15.6996	19.6576	0.95849	0.0:1.0:0.0:0.0	.	758;788;836;108;725;674;836	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	V	836;725;674;108;758;836	ENSP00000242839:G836V;ENSP00000383217:G725V;ENSP00000342559:G674V;ENSP00000390360:G108V;ENSP00000416738:G758V;ENSP00000393343:G836V	ENSP00000242839:G836V	G	-	2	0	ATP7B	51422477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.732000	0.84908	2.650000	0.89964	0.650000	0.86243	GGG		0.547	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		4	79	4	79	---	---	---	---	A	52524476	C	A	52524476	3	1	9	1	0	0	0	0	1	0	0	0	1191	623	22	1	1938	1	ATP7B	13	52524476	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	562890	52524476	62645402	642	881										
ATP7B	540	broad.mit.edu	37	chr13	52548505	52548505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacttgaatactttgaaccCctaggagctggccaatattt	7	10	0	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.chr13:52548505C>A	ENST00000242839.4	-	2	1007	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	284	HMA 3. {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)	ACTTTGAACCCCTAGGAGCTG	0.468									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.(850-852)gGg>gTg		ATPase, Cu++ transporting, beta polypeptide							83	82	82					13																	52548505		1855	4094	5949	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.chr13:52548505C>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.851G>T	13.37:g.52548505C>A	ENSP00000242839:p.Gly284Val		Somatic				ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR	p.G284V	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1007	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	284			HMA 3.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.851G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238397	0.79800	.	.	ENSG00000123191	ENST00000242839;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.02	6.02	0.97574	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.237227	0.48767	D	0.000172	D	0.97873	0.9301	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.985;1.0;1.0;1.0;0.996	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.953;0.987;1.0;1.0;0.985	D	0.98338	1.0537	10	0.87932	D	0	-24.242	20.5407	0.99260	0.0:1.0:0.0:0.0	.	252;284;284;284;284;284;284	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	V	284;284;284;284;284;252	ENSP00000242839:G284V;ENSP00000342559:G284V;ENSP00000416738:G284V;ENSP00000383221:G284V;ENSP00000393343:G284V;ENSP00000443128:G252V	ENSP00000242839:G284V	G	-	2	0	ATP7B	51446506	0.997000	0.39634	0.998000	0.56505	0.937000	0.57800	3.821000	0.55700	2.865000	0.98341	0.655000	0.94253	GGG		0.468	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		7	191	7	191	---	---	---	---	A	52548505	C	A	52548505	3	1	9	1	0	0	0	0	1	0	0	0	1191	623	22	1	3626	1	ATP7B	13	52548505	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	24029	52548505	62621373	643	882										
PCDH20	64881	broad.mit.edu	37	chr13	61986618	61986618	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgatggttagttctattaaGggttgaaggaaaattggagc	13	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.chr13:61986618G>T	ENST00000409186.1	-	5	3719	c.1614C>A	c.(1612-1614)ccC>ccA	p.P538P	PCDH20_ENST00000409204.4_Silent_p.P538P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	538	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)|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)		GTTCTATTAAGGGTTGAAGGA	0.423																																						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.(1612-1614)ccC>ccA		protocadherin 20							151	155	154					13																	61986618		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986618G>T	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.1614C>A	13.37:g.61986618G>T			Somatic				PCDH20_ENST00000409204.4_Silent_p.P538P	p.P538P			WXS	Illumina GAIIx	Phase_I	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3719	-		Breast(118;0.195)|Prostate(109;0.229)	511			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1614C>A	CCDS9442.2																																																																																				0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		7	448	7	448	---	---	---	---	T	61986618	G	T	61986618	2	4	9	1	0	0	0	0	0	0	0	1	11515	987	35	1		1	PCDH20	13	61986618	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	9438113	61986618	53183260	644	883										
PCDH9	5101	broad.mit.edu	37	chr13	67801206	67801206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcatcctcaagcttaaccCttaccagggcagtctgattt	6	12	3	1	rs375678760		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.chr13:67801206C>A	ENST00000377865.2	-	1	1501	c.1367G>T	c.(1366-1368)aGg>aTg	p.R456M	PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M|PCDH9_ENST00000544246.1_Missense_Mutation_p.R456M			Q9HC56	PCDH9_HUMAN	protocadherin 9	456	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)		AAGCTTAACCCTTACCAGGGC	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.(1366-1368)aGg>aTg		protocadherin 9							68	69	69					13																	67801206		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801206C>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.1367G>T	13.37:g.67801206C>A	ENSP00000367096:p.Arg456Met		Somatic				PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M	p.R456M	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2058	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	456			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1367G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597487	0.28445	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	6.08	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.040265	0.85682	N	0.000000	T	0.53334	0.1790	N	0.24115	0.695	0.58432	D	0.999999	P;P;D;D	0.54397	0.889;0.827;0.958;0.966	P;P;P;P	0.55055	0.767;0.511;0.536;0.666	T	0.52601	-0.8554	10	0.33940	T	0.23	.	16.7104	0.85383	0.1306:0.8694:0.0:0.0	.	456;456;456;456	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	456	ENSP00000442186:R456M;ENSP00000367096:R456M;ENSP00000401699:R456M;ENSP00000332060:R456M;ENSP00000367092:R456M	ENSP00000332060:R456M	R	-	2	0	PCDH9	66699207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	1.559000	0.49555	0.655000	0.94253	AGG		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	189	5	189	---	---	---	---	A	67801206	C	A	67801206	3	1	9	1	0	0	0	0	1	0	0	0	11518	681	24	1	2362	1	PCDH9	13	67801206	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5814588	67801206	47368672	645	884										
SLITRK5	26050	broad.mit.edu	37	chr13	88327880	88327880	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctctgaaattagccctccCcgtttcccaatctaccacct	3	18	2	1	rs374083775		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.chr13:88327880C>A	ENST00000325089.6	+	2	456	c.237C>A	c.(235-237)ccC>ccA	p.P79P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	79					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)					TTAGCCCTCCCCGTTTCCCAA	0.453																																						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.(235-237)ccC>ccA		SLIT and NTRK-like family, member 5		C		0,4406		0,0,2203	164	163	163		237	-2	1	13		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLITRK5	NM_015567.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		79/959	88327880	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327880C>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.237C>A	13.37:g.88327880C>A			Somatic				SLITRK5_ENST00000400028.3_Intron	p.P79P	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	456	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		79					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.237C>A	CCDS9465.1																																																																																				0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	450	7	450	---	---	---	---	A	88327880	C	A	88327880	2	1	9	1	0	0	0	0	0	0	0	1	14746	610	22	1		1	SLITRK5	13	88327880	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	20526674	88327880	26841998	646	885										
SLITRK5	26050	broad.mit.edu	37	chr13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggattggttggacagcatcTcctattcagccctggtgggg	14	9	2	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.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		Somatic				SLITRK5_ENST00000400028.3_Intron	p.S254P	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	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	75	242	---	---	---	---	C	88328403	T	C	88328403	3	2	9	1	0	0	0	0	1	0	0	0	14746	1551	54	2	762	2	SLITRK5	13	88328403	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08	523	88328403	26841475	647	886										
DOCK9	23348	broad.mit.edu	37	chr13	99554604	99554604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggacagatgggctctgccCactgccattcatcagcgccg	12	14	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.chr13:99554604C>A	ENST00000376460.1	-	12	1398	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W|DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	441					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)					GGGCTCTGCCCACTGCCATTC	0.552																																						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.(1318-1320)Ggg>Tgg		dedicator of cytokinesis 9							72	78	76					13																	99554604		2129	4234	6363	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99554604C>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.1318G>T	13.37:g.99554604C>A	ENSP00000365643:p.Gly440Trp		Somatic				DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W	p.G440W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	WXS	Illumina GAIIx	Phase_I	Q9BZ29	DOCK9_HUMAN			12	1398	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		441					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1318G>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060841	0.55432	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.36	-1.57	0.08506	.	1.973700	0.02010	N	0.046903	T	0.56217	0.1970	M	0.68593	2.085	0.34616	D	0.718131	P;P;P;P;P	0.51537	0.902;0.928;0.946;0.746;0.675	P;P;P;P;B	0.51266	0.639;0.664;0.566;0.48;0.325	T	0.53070	-0.8490	9	.	.	.	.	7.8058	0.29202	0.0:0.5189:0.1049:0.3762	.	441;440;440;440;441	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	W	440;441;441;441;440;441;452;440	ENSP00000365643:G440W;ENSP00000341086:G441W;ENSP00000401958:G452W;ENSP00000406883:G440W	.	G	-	1	0	DOCK9	98352605	0.046000	0.20272	0.006000	0.13384	0.181000	0.23173	1.077000	0.30741	-0.621000	0.05633	-0.355000	0.07637	GGG		0.552	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	62	4	62	---	---	---	---	A	99554604	C	A	99554604	3	1	9	1	0	0	0	0	1	0	0	0	4694	594	21	1	5129	1	DOCK9	13	99554604	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	11226201	99554604	15615274	648	887										
TMTC4	84899	broad.mit.edu	37	chr13	101257324	101257324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttagttcctgatgccgtgGggtcaagctgcaaggagatt	13	9	1	2	rs201221109		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.chr13:101257324G>T	ENST00000376234.3	-	18	2339	c.2150C>A	c.(2149-2151)cCc>cAc	p.P717H	TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H|TMTC4_ENST00000342624.5_Missense_Mutation_p.P736H	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	717						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)					TGATGCCGTGGGGTCAAGCTG	0.428													G|||	1	0.000199681	0	0	5008	,	,		18915	0		0.001	False		,,,				2504	0					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.(2206-2208)cCc>cAc		transmembrane and tetratricopeptide repeat containing 4							278	248	258					13																	101257324		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257324G>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.2150C>A	13.37:g.101257324G>T	ENSP00000365408:p.Pro717His		Somatic				TMTC4_ENST00000376234.3_Missense_Mutation_p.P717H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H	p.P736H	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			19	2465	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		717					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2207C>A	CCDS41904.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.5	4.542145	0.85917	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.74315	-0.83;-0.83;-0.83	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	H	0.97611	4.04	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	D	0.93672	0.6991	10	0.87932	D	0	.	20.8387	0.99724	0.0:0.0:1.0:0.0	.	606;717;736	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	H	717;736;606	ENSP00000365408:P717H;ENSP00000343871:P736H;ENSP00000365409:P606H	ENSP00000365409:P606H	P	-	2	0	TMTC4	100055325	1.000000	0.71417	0.976000	0.42696	0.649000	0.38597	9.466000	0.97665	2.932000	0.99384	0.643000	0.83706	CCC		0.428	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		6	321	6	321	---	---	---	---	T	101257324	G	T	101257324	3	4	9	1	0	0	0	0	1	0	0	0	16260	1232	43	1	79	1	TMTC4	13	101257324	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1702720	101257324	13912554	649	888										
GRK1	6011	broad.mit.edu	37	chr13	114324001	114324001	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actcagcgtctcacttttcaGggtgctatggtggagaagaa	12	8	3	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.chr13:114324001G>T	ENST00000335678.6	+	2	931		c.e2-1			NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1						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)			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)			TCACTTTTCAGGGTGCTATGG	0.537																																						ENST00000335678.6																			0				ovary(2)	2						c.e2-1		G protein-coupled receptor kinase 1							230	234	232					13																	114324001		2106	4236	6342	SO:0001630	splice_region_variant	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.chr13:114324001G>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.700-1G>T	13.37:g.114324001G>T			Somatic						NM_002929.2	NP_002920.1	WXS	Illumina GAIIx	Phase_I	Q15835	RK_HUMAN	all cancers(43;0.234)		2	931	+	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)						Q53X14	Splice_Site	SNP	ENST00000335678.6	37			.	.	.	.	.	.	.	.	.	.	g	14.70	2.613751	0.46631	.	.	ENSG00000185974	ENST00000335678	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7555	0.69560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRK1	113372002	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	6.290000	0.72712	2.131000	0.65755	0.511000	0.50034	.		0.537	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	Intron	6	372	6	372	---	---	---	---	T	114324001	G	T	114324001	5	4	9	1	0	0	0	0	0	0	1	0	6790	1014	35	1	705	1	GRK1	13	114324001	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13066677	114324001	845877	650	889										
TEP1	7011	broad.mit.edu	37	chr14	20864042	20864042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttctgagttgagcctcgaGggcatcaatggcatcatggg	13	8	3	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.chr14:20864042G>T	ENST00000262715.5	-	11	1766	c.1726C>A	c.(1726-1728)Ctc>Atc	p.L576I	TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	576	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)		TGAGCCTCGAGGGCATCAATG	0.468																																						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.(1726-1728)Ctc>Atc		telomerase-associated protein 1							131	127	128					14																	20864042		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.chr14:20864042G>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.1726C>A	14.37:g.20864042G>T	ENSP00000262715:p.Leu576Ile		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	p.L576I	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	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)	11	1766	-	all_cancers(95;0.00123)	all_lung(585;0.235)	576			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1726C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351777	0.61183	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.17370	2.28;2.28	5.43	1.59	0.23543	TROVE (2);	0.074689	0.50627	D	0.000106	T	0.25158	0.0611	M	0.62209	1.925	0.30451	N	0.775228	P;P	0.47253	0.869;0.892	P;P	0.51833	0.456;0.681	T	0.10222	-1.0639	10	0.59425	D	0.04	-4.217	8.0687	0.30676	0.3306:0.0:0.6694:0.0	.	468;576	G3V5X7;Q99973	.;TEP1_HUMAN	I	576;576;468	ENSP00000262715:L576I;ENSP00000452574:L468I	ENSP00000262715:L576I	L	-	1	0	TEP1	19933882	0.019000	0.18553	0.010000	0.14722	0.105000	0.19272	0.344000	0.19962	0.277000	0.22141	0.655000	0.94253	CTC		0.468	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	116	4	116	---	---	---	---	T	20864042	G	T	20864042	3	4	9	1	0	0	0	0	1	0	0	0	15756	1000	35	1	6337	1	TEP1	14	20864042	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		20864042	86485498	651	890										
OR6S1	341799	broad.mit.edu	37	chr14	21109838	21109838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatcactactgtggttccCatcaggactcattgtctttt	8	10	4	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.chr14:21109838C>A	ENST00000320704.3	-	1	12	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	5						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)		CTGTGGTTCCCATCAGGACTC	0.438																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(13-15)Ggg>Tgg		olfactory receptor, family 6, subfamily S, member 1							98	105	103					14																	21109838		2202	4300	6502	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109838C>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.13G>T	14.37:g.21109838C>A	ENSP00000313110:p.Gly5Trp		Somatic					p.G5W	NM_001001968.1	NP_001001968.1	WXS	Illumina GAIIx	Phase_I	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	12	-	all_cancers(95;0.00304)		5					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.13G>T	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617768	0.28801	.	.	ENSG00000181803	ENST00000320704	T	0.38401	1.14	5.31	0.96	0.19631	.	1.335400	0.05137	N	0.493547	T	0.29389	0.0732	L	0.29908	0.895	0.09310	N	1	D	0.58620	0.983	P	0.45913	0.497	T	0.18871	-1.0323	10	0.66056	D	0.02	0.0752	2.9811	0.05954	0.214:0.4529:0.0:0.3331	.	5	Q8NH40	OR6S1_HUMAN	W	5	ENSP00000313110:G5W	ENSP00000313110:G5W	G	-	1	0	OR6S1	20179678	0.001000	0.12720	0.142000	0.22268	0.851000	0.48451	0.007000	0.13174	0.305000	0.22832	0.655000	0.94253	GGG		0.438	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			6	306	6	306	---	---	---	---	A	21109838	C	A	21109838	3	1	9	1	0	0	0	0	1	0	0	0	11209	594	21	1	986	1	OR6S1	14	21109838	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	245796	21109838	86239702	652	891										
METTL3	56339	broad.mit.edu	37	chr14	21967909	21967909	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacacaaccactacttaccCccagagatttagacattctc	3	15	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.chr14:21967909C>A	ENST00000298717.4	-	7	1493	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	448					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)			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)		ACTACTTACCCCCAGAGATTT	0.378																																						ENST00000298717.4																			0				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.(1342-1344)Ggg>Tgg		methyltransferase like 3							163	149	154					14																	21967909		2203	4300	6503	SO:0001630	splice_region_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967909C>A	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.1343+1G>T	14.37:g.21967909C>A			Somatic					p.G448W	NM_019852.3	NP_062826.2	WXS	Illumina GAIIx	Phase_I	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	7	1493	-	all_cancers(95;0.000628)		448					O14736|Q86V05|Q9HB32	Splice_Site	SNP	ENST00000298717.4	37	c.1342G>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361697	0.82353	.	.	ENSG00000165819	ENST00000298717	T	0.59638	0.25	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90705	0.4623	10	0.87932	D	0	-16.3363	17.2746	0.87111	0.0:1.0:0.0:0.0	.	448	Q86U44	MTA70_HUMAN	W	448	ENSP00000298717:G448W	ENSP00000298717:G448W	G	-	1	0	METTL3	21037749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.059000	0.76684	2.619000	0.88677	0.460000	0.39030	GGG		0.378	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852	Missense_Mutation	6	285	6	285	---	---	---	---	A	21967909	C	A	21967909	5	1	9	1	0	0	0	0	0	0	1	0	9501	637	22	1	420	1	METTL3	14	21967909	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	858071	21967909	85381631	653	892										
ACIN1	22985	broad.mit.edu	37	chr14	23531693	23531693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccaaggttcctgtgcgccCcaacaactcctttagctggc	8	16	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.chr14:23531693C>A	ENST00000262710.1	-	15	3424	c.3097G>T	c.(3097-3099)Ggg>Tgg	p.G1033W	ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W|ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1033					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)		CCTGTGCGCCCCAACAACTCC	0.478																																						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.(3097-3099)Ggg>Tgg		apoptotic chromatin condensation inducer 1							166	173	171					14																	23531693		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.chr14:23531693C>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.3097G>T	14.37:g.23531693C>A	ENSP00000262710:p.Gly1033Trp		Somatic				ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W	p.G1033W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3424	-	all_cancers(95;1.36e-05)		1033					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3097G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925524	0.73213	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.39083	N	0.001462	T	0.56848	0.2013	M	0.62723	1.935	0.38821	D	0.955628	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.995;0.997;0.988;0.975;0.977	T	0.61138	-0.7123	10	0.87932	D	0	-15.7489	13.4148	0.60961	0.1573:0.8427:0.0:0.0	.	1020;1033;993;306;275	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	274;306;275;1033;993;275;1020	ENSP00000451138:G274W;ENSP00000345541:G306W;ENSP00000350073:G275W;ENSP00000262710:G1033W;ENSP00000405677:G993W;ENSP00000380502:G275W;ENSP00000451328:G1020W	ENSP00000262710:G1033W	G	-	1	0	ACIN1	22601533	0.970000	0.33590	0.996000	0.52242	0.961000	0.63080	2.782000	0.47758	2.650000	0.89964	0.563000	0.77884	GGG		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	388	6	388	---	---	---	---	A	23531693	C	A	23531693	3	1	9	1	0	0	0	0	1	0	0	0	142	623	22	1	948	1	ACIN1	14	23531693	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1563784	23531693	83817847	654	893										
TGM1	7051	broad.mit.edu	37	chr14	24729790	24729790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgttgggggaagtgtggaccCgcaggttcagattctgccca	15	10	2	1	rs369636498		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.chr14:24729790C>A	ENST00000206765.6	-	4	746	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	208					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)	AGTGTGGACCCGCAGGTTCAG	0.607																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(622-624)cGg>cTg		transglutaminase 1	L-Glutamine(DB00130)						202	167	178					14																	24729790		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.chr14:24729790C>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.623G>T	14.37:g.24729790C>A	ENSP00000206765:p.Arg208Leu		Somatic				TGM1_ENST00000544573.1_Intron	p.R208L	NM_000359.2	NP_000350.1	WXS	Illumina GAIIx	Phase_I	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	4	746	-			208					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.623G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279841	0.10458	.	.	ENSG00000092295	ENST00000206765	D	0.84516	-1.86	5.89	3.76	0.43208	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.195706	0.46442	D	0.000296	T	0.74129	0.3676	N	0.16790	0.44	0.23464	N	0.997624	B	0.18968	0.032	B	0.20184	0.028	T	0.63699	-0.6578	10	0.36615	T	0.2	-17.2242	13.0381	0.58882	0.0:0.8426:0.0:0.1574	.	208	P22735	TGM1_HUMAN	L	208	ENSP00000206765:R208L	ENSP00000206765:R208L	R	-	2	0	TGM1	23799630	0.187000	0.23238	0.643000	0.29450	0.572000	0.35998	2.043000	0.41231	1.507000	0.48752	0.563000	0.77884	CGG		0.607	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		4	157	4	157	---	---	---	---	A	24729790	C	A	24729790	3	1	9	1	0	0	0	0	1	0	0	0	15826	652	23	1	1878	1	TGM1	14	24729790	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1198097	24729790	82619750	655	894										
NOVA1	4857	broad.mit.edu	37	chr14	26949216	26949216	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggattaacggtggtctgGggttgtagaatgctgactgg	16	5	2	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.chr14:26949216G>T	ENST00000344429.5	-	3	417	c.414C>A	c.(412-414)ccC>ccA	p.P138P	NOVA1_ENST00000465357.2_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000539517.2_Silent_p.P138P	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	141					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)			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)		CGGTGGTCTGGGGTTGTAGAA	0.408																																						ENST00000539517.2																			0				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.(412-414)ccC>ccA		neuro-oncological ventral antigen 1							225	189	201					14																	26949216		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949216G>T	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	ENST00000344429.5:c.414C>A	14.37:g.26949216G>T			Somatic				NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000344429.5_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000465357.2_Silent_p.P138P	p.P138P	NM_002515.2	NP_002506.2	WXS	Illumina GAIIx	Phase_I	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	731	-			141					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.414C>A	CCDS9635.1																																																																																				0.408	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		6	380	6	380	---	---	---	---	T	26949216	G	T	26949216	2	4	9	1	0	0	0	0	0	0	0	1	10554	1219	43	1		1	NOVA1	14	26949216	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2219426	26949216	80400324	656	895										
LRFN5	145581	broad.mit.edu	37	chr14	42360791	42360791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttattcccaaactaacgGggctcaaatacaaggctgta	8	9	1	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.chr14:42360791G>T	ENST00000298119.4	+	4	2913	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	575						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)		CAAACTAACGGGGCTCAAATA	0.458										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.(1723-1725)gGg>gTg		leucine rich repeat and fibronectin type III domain containing 5							99	92	94					14																	42360791		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360791G>T	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.1724G>T	14.37:g.42360791G>T	ENSP00000298119:p.Gly575Val	HNSCC(30;0.082)	Somatic				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.G575V	NM_152447.3	NP_689660.2	WXS	Illumina GAIIx	Phase_I	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2913	+			575					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1724G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856787	0.51376	.	.	ENSG00000165379	ENST00000298119	T	0.59772	0.24	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000042	T	0.59088	0.2168	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.68127	-0.5491	10	0.87932	D	0	.	17.4344	0.87547	0.0:0.0:1.0:0.0	.	575	Q96NI6	LRFN5_HUMAN	V	575	ENSP00000298119:G575V	ENSP00000298119:G575V	G	+	2	0	LRFN5	41430541	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.600000	0.61083	2.716000	0.92895	0.650000	0.86243	GGG		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		5	135	5	135	---	---	---	---	T	42360791	G	T	42360791	3	4	9	1	0	0	0	0	1	0	0	0	8941	1232	43	1	1730	1	LRFN5	14	42360791	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	15411575	42360791	64988749	657	896										
NIN	51199	broad.mit.edu	37	chr14	51288706	51288706	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccccagggaccctgtgccCgtcgtgtcaaaactgtcaaa	10	14	2	0	rs370426860		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.chr14:51288706C>A	ENST00000382041.3	-	3	259	c.69G>T	c.(67-69)acG>acT	p.T23T	NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|NIN_ENST00000245441.5_Silent_p.T23T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			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)					ACCCTGTGCCCGTCGTGTCAA	0.577			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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.(67-69)acG>acT		ninein (GSK3B interacting protein)							257	234	241					14																	51288706		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288706C>A	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.69G>T	14.37:g.51288706C>A			Somatic				NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000382041.3_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T	p.T23T	NM_020921.3	NP_065972	WXS	Illumina GAIIx	Phase_I	Q8N4C6	NIN_HUMAN			3	259	-	all_epithelial(31;0.00244)|Breast(41;0.127)		23			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.69G>T	CCDS32079.1																																																																																				0.577	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		6	371	6	371	---	---	---	---	A	51288706	C	A	51288706	2	1	9	1	0	0	0	0	0	0	0	1	10417	639	23	1		1	NIN	14	51288706	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8927915	51288706	56060834	658	897										
SOCS4	122809	broad.mit.edu	37	chr14	55510674	55510674	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactggaaggaaaaccagaGggtacctttttacttcgaga	10	8	0	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.chr14:55510674G>T	ENST00000395472.2	+	2	1247	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D|SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	305	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						GAAAACCAGAGGGTACCTTTT	0.428																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(913-915)gaG>gaT		suppressor of cytokine signaling 4							121	120	120					14																	55510674		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510674G>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.915G>T	14.37:g.55510674G>T	ENSP00000378855:p.Glu305Asp		Somatic				SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D|SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D	p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	WXS	Illumina GAIIx	Phase_I	Q8WXH5	SOCS4_HUMAN			2	1247	+			305			SH2.			Missense_Mutation	SNP	ENST00000395472.2	37	c.915G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950234	0.53186	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	D;D;D	0.87491	-2.26;-2.26;-2.26	5.77	1.96	0.26148	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.85274	0.5659	N	0.17312	0.475	0.49483	D	0.999796	D	0.63880	0.993	D	0.72338	0.977	T	0.80710	-0.1261	10	0.33940	T	0.23	-20.8337	9.6543	0.39917	0.3373:0.0:0.6627:0.0	.	305	Q8WXH5	SOCS4_HUMAN	D	305	ENSP00000378855:E305D;ENSP00000452522:E305D;ENSP00000341327:E305D	ENSP00000341327:E305D	E	+	3	2	SOCS4	54580427	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	0.912000	0.28597	0.090000	0.17273	0.650000	0.86243	GAG		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			6	267	6	267	---	---	---	---	T	55510674	G	T	55510674	3	4	9	1	0	0	0	0	1	0	0	0	14916	991	35	1	917	1	SOCS4	14	55510674	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4221968	55510674	51838866	659	898										
SNAPC1	6617	broad.mit.edu	37	chr14	62245576	62245576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacatccagagatgtgaaaGggcagaatcattagcgaaaa	10	6	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.chr14:62245576G>T	ENST00000216294.4	+	7	877	c.773G>T	c.(772-774)aGg>aTg	p.R258M	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	258	SNAPC4-binding.				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)		AGATGTGAAAGGGCAGAATCA	0.289																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(772-774)aGg>aTg		small nuclear RNA activating complex, polypeptide 1, 43kDa							68	73	72					14																	62245576		2203	4296	6499	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62245576G>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.773G>T	14.37:g.62245576G>T	ENSP00000216294:p.Arg258Met		Somatic					p.R258M	NM_003082.3	NP_003073.1	WXS	Illumina GAIIx	Phase_I	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	7	877	+			258			SNAPC4-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.773G>T	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148773	0.78001	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.79519	-0.1770	9	0.87932	D	0	-0.1745	17.5131	0.87765	0.0:0.0:1.0:0.0	.	258	Q16533	SNPC1_HUMAN	M	258	.	ENSP00000216294:R258M	R	+	2	0	SNAPC1	61315329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.204000	0.65180	2.809000	0.96659	0.655000	0.94253	AGG		0.289	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		5	151	5	151	---	---	---	---	T	62245576	G	T	62245576	3	4	9	1	0	0	0	0	1	0	0	0	14834	1000	35	1	799	1	SNAPC1	14	62245576	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6734902	62245576	45103964	660	899										
SYNE2	23224	broad.mit.edu	37	chr14	64518896	64518896	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacttaatccctccattccCcttctcccagatgacattct	3	16	2	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.chr14:64518896C>A	ENST00000344113.4	+	48	8477	c.8265C>A	c.(8263-8265)ccC>ccA	p.P2755P	SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.P2755P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2755					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)		CCTCCATTCCCCTTCTCCCAG	0.428																																						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.(8263-8265)ccC>ccA		spectrin repeat containing, nuclear envelope 2							209	194	199					14																	64518896		1935	4131	6066	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.chr14:64518896C>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.8265C>A	14.37:g.64518896C>A			Somatic				SYNE2_ENST00000344113.4_Silent_p.P2755P|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR	p.P2755P	NM_182914.2	NP_878918.2	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8495	+			2755					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.8265C>A	CCDS41963.1																																																																																				0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	408	8	408	---	---	---	---	A	64518896	C	A	64518896	2	1	9	1	0	0	0	0	0	0	0	1	15443	610	22	1		1	SYNE2	14	64518896	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2273320	64518896	42830644	661	900										
SYNE2	23224	broad.mit.edu	37	chr14	64593108	64593108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttgaactattcctgaccCtcagtcagtgcctcagcagt	8	12	3	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.chr14:64593108C>A	ENST00000344113.4	+	72	13830	c.13618C>A	c.(13618-13620)Ctc>Atc	p.L4540I	SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L925I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4540					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)		ATTCCTGACCCTCAGTCAGTG	0.423																																						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.(2773-2775)Ctc>Atc		spectrin repeat containing, nuclear envelope 2							82	81	82					14																	64593108		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.chr14:64593108C>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.13618C>A	14.37:g.64593108C>A	ENSP00000341781:p.Leu4540Ile		Somatic				SYNE2_ENST00000344113.4_Missense_Mutation_p.L4540I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I	p.L925I			WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	73	13917	+			4540					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2773C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216482	0.39201	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56941	0.84;4.14;0.85;0.43;4.19;4.14	5.81	4.86	0.63082	.	0.145716	0.31542	N	0.007462	T	0.31918	0.0812	N	0.19112	0.55	0.80722	D	1	B;B;P	0.36683	0.065;0.429;0.565	B;B;B	0.29785	0.03;0.05;0.107	T	0.10613	-1.0622	10	0.23891	T	0.37	.	11.0437	0.47846	0.3092:0.6907:0.0:0.0	.	925;4540;4540	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4540;925;4540;4491;4491;1174;925	ENSP00000350719:L4540I;ENSP00000349969:L925I;ENSP00000341781:L4540I;ENSP00000452570:L4491I;ENSP00000450831:L1174I;ENSP00000378249:L925I	ENSP00000261678:L4491I	L	+	1	0	SYNE2	63662861	0.463000	0.25799	0.964000	0.40570	0.934000	0.57294	1.917000	0.39996	2.741000	0.93983	0.655000	0.94253	CTC		0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	151	5	151	---	---	---	---	A	64593108	C	A	64593108	3	1	9	1	0	0	0	0	1	0	0	0	15443	681	24	1	13900	1	SYNE2	14	64593108	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	74212	64593108	42756432	662	901										
SPTB	6710	broad.mit.edu	37	chr14	65220429	65220429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtggtgggcctctcatccCcagtggatttctgcccatcc	10	16	2	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.chr14:65220429C>A	ENST00000556626.1	-	33	6570	c.6428G>T	c.(6427-6429)gGg>gTg	p.G2143V	SPTB_ENST00000389722.3_Missense_Mutation_p.G2143V|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					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)		CCTCTCATCCCCAGTGGATTT	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.(6427-6429)gGg>gTg		spectrin, beta, erythrocytic							67	71	70					14																	65220429		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.chr14:65220429C>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		ENST00000556626.1:c.6428G>T	14.37:g.65220429C>A	ENSP00000451752:p.Gly2143Val		Somatic				SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.G2143V	p.G2143V	NM_001024858.2	NP_001020029.1	WXS	Illumina GAIIx	Phase_I	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	32	6481	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.6428G>T	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011290	0.19277	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.70516	-0.49;0.29;-0.49	5.6	-1.98	0.07480	.	0.562775	0.17731	N	0.163917	T	0.42063	0.1186	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.11397	-1.0589	10	0.30078	T	0.28	.	1.3678	0.02205	0.1242:0.2597:0.243:0.3732	.	927;2147	E7EV95;Q59FP5	.;.	V	2147;2143;927;808;2143	ENSP00000374372:G2143V;ENSP00000451324:G808V;ENSP00000451752:G2143V	ENSP00000334218:G927V	G	-	2	0	SPTB	64290182	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.061000	0.14366	-0.443000	0.07180	0.561000	0.74099	GGG		0.647	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			5	168	5	168	---	---	---	---	A	65220429	C	A	65220429	3	1	9	1	0	0	0	0	1	0	0	0	15117	623	22	1	574	1	SPTB	14	65220429	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	627321	65220429	42129111	663	902										
GPHN	10243	broad.mit.edu	37	chr14	67610144	67610144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgtcatcatcacatcagGgggtgtatccatgggggaaa	13	7	4	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.chr14:67610144G>T	ENST00000315266.5	+	17	2836	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000478722.1_Missense_Mutation_p.G605V|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	572	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)		ATCACATCAGGGGGTGTATCC	0.423			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.(1813-1815)gGg>gTg		gephyrin							190	194	193					14																	67610144		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.chr14:67610144G>T	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.1715G>T	14.37:g.67610144G>T	ENSP00000312771:p.Gly572Val		Somatic				GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000315266.5_Missense_Mutation_p.G572V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	p.G605V	NM_020806.4	NP_065857.1	WXS	Illumina GAIIx	Phase_I	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)	18	2935	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	572			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1814G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857979	0.91433	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	5.9	5.9	0.94986	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	H	0.99169	4.455	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	0.98588	1.0653	10	0.87932	D	0	-6.187	19.0419	0.93004	0.0:0.0:1.0:0.0	.	541;618;572;605	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	V	572;605;618;541;97	ENSP00000312771:G572V;ENSP00000417901:G605V;ENSP00000438404:G618V;ENSP00000303019:G541V;ENSP00000452009:G97V	ENSP00000303019:G541V	G	+	2	0	GPHN	66679897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.793000	0.96121	0.591000	0.81541	GGG		0.423	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		7	269	7	269	---	---	---	---	T	67610144	G	T	67610144	3	4	9	1	0	0	0	0	1	0	0	0	6610	1232	43	1	1884	1	GPHN	14	67610144	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2389715	67610144	39739396	664	903										
ZFP36L1	677	broad.mit.edu	37	chr14	69256411	69256411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggagagtcaaacatgtgagGggactcggacatgggccgga	18	7	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.chr14:69256411G>T	ENST00000439696.2	-	2	1157	c.856C>A	c.(856-858)Cct>Act	p.P286T	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T|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	286					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)		AACATGTGAGGGGACTCGGAC	0.652											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.(856-858)Cct>Act		ZFP36 ring finger protein-like 1							56	66	63					14																	69256411		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.chr14:69256411G>T	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.856C>A	14.37:g.69256411G>T	ENSP00000388402:p.Pro286Thr		Somatic	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.P286T	p.P286T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	WXS	Illumina GAIIx	Phase_I	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1157	-			286					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.856C>A	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258674	0.59321	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.34859	1.34;1.34	4.66	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43940	-0.9360	10	0.33141	T	0.24	-5.7684	10.7556	0.46234	0.1546:0.0:0.8454:0.0	.	286	Q07352	TISB_HUMAN	T	286;286;269	ENSP00000388402:P286T;ENSP00000337386:P286T	ENSP00000337386:P286T	P	-	1	0	ZFP36L1	68326164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.567000	0.98161	0.579000	0.29504	0.591000	0.81541	CCT		0.652	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			5	161	5	161	---	---	---	---	T	69256411	G	T	69256411	3	4	9	1	0	0	0	0	1	0	0	0	17643	1232	43	1	164	1	ZFP36L1	14	69256411	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1646267	69256411	38093129	665	904										
PAPLN	89932	broad.mit.edu	37	chr14	73730438	73730438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgctcagacgacactgccCcggaatcccaggctgcctgg	11	17	1	1	rs373145744		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.chr14:73730438C>A	ENST00000554301.1	+	19	2972	c.2809C>A	c.(2809-2811)Ccg>Acg	p.P937T	PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000427855.1_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	937	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)			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)		CGACACTGCCCCGGAATCCCA	0.642																																						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.(2809-2811)Ccg>Acg		papilin, proteoglycan-like sulfated glycoprotein							56	52	53					14																	73730438		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73730438C>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.2809C>A	14.37:g.73730438C>A	ENSP00000451803:p.Pro937Thr		Somatic				PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T	p.P937T			WXS	Illumina GAIIx	Phase_I	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	20	2911	+			937			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2809C>A		.	.	.	.	.	.	.	.	.	.	C	10.60	1.396010	0.25205	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.62	0.366	0.16136	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49575	0.1565	M	0.66297	2.02	0.09310	N	1	P;P;P;D;D	0.58268	0.814;0.846;0.818;0.982;0.97	B;P;B;P;P	0.53861	0.389;0.524;0.407;0.687;0.736	T	0.43556	-0.9384	9	0.27785	T	0.31	.	10.4693	0.44626	0.0:0.5536:0.3752:0.0711	.	921;937;937;136;910	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	T	910;937;937;937;921	ENSP00000345395:P910T;ENSP00000403403:P937T;ENSP00000370558:P937T;ENSP00000451803:P937T;ENSP00000451729:P921T	ENSP00000345395:P910T	P	+	1	0	PAPLN	72800191	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.462000	0.06704	-0.108000	0.12066	0.561000	0.74099	CCG		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		4	74	4	74	---	---	---	---	A	73730438	C	A	73730438	3	1	9	1	0	0	0	0	1	0	0	0	11428	623	22	1	2798	1	PAPLN	14	73730438	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4474027	73730438	33619102	666	905										
TMEM90A	646658	broad.mit.edu	37	chr14	74876080	74876080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcagctcctcttgtaccCcataggacacagtctggatg	9	15	2	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.chr14:74876080C>A	ENST00000554823.1	-	1	429	c.368G>T	c.(367-369)gGg>gTg	p.G123V	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.G123V			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	123					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCTTGTACCCCATAGGACAC	0.572																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(367-369)gGg>gTg		synapse differentiation inducing 1-like							94	98	97					14																	74876080		2051	4206	6257	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876080C>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.368G>T	14.37:g.74876080C>A	ENSP00000450439:p.Gly123Val		Somatic				SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G123V	p.G123V	NM_001105579.1	NP_001099049.1	WXS	Illumina GAIIx	Phase_I	A6NDD5	SYN1L_HUMAN			2	615	-			123						Missense_Mutation	SNP	ENST00000554823.1	37	c.368G>T	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915789	0.52546	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95272	-3.66;-3.66	4.63	3.65	0.41850	.	0.123149	0.53938	D	0.000058	D	0.87111	0.6096	L	0.29908	0.895	0.58432	D	0.999993	P	0.43477	0.808	B	0.37267	0.245	D	0.85603	0.1253	10	0.62326	D	0.03	-17.0755	4.361	0.11203	0.0:0.7678:0.0:0.2322	.	123	A6NDD5	SYN1L_HUMAN	V	123	ENSP00000331474:G123V;ENSP00000450439:G123V	ENSP00000331474:G123V	G	-	2	0	SYNDIG1L	73945833	1.000000	0.71417	0.076000	0.20297	0.540000	0.34992	5.713000	0.68415	2.402000	0.81655	0.467000	0.42956	GGG		0.572	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		6	387	6	387	---	---	---	---	A	74876080	C	A	74876080	3	1	9	1	0	0	0	0	1	0	0	0	16215	623	22	1	360	1	TMEM90A	14	74876080	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1145642	74876080	32473460	667	906										
C14orf118	55668	broad.mit.edu	37	chr14	76633061	76633061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctctttaccaatgatgaaGggcgacaaggtaatgtcgat	12	7	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.chr14:76633061G>T	ENST00000261530.7	+	3	784	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	240																	CAATGATGAAGGGCGACAAGG	0.433																																						ENST00000261530.7																			0											c.(718-720)Ggg>Tgg		G patch domain containing 2-like							143	122	129					14																	76633061		2203	4300	6503	SO:0001583	missense	55668							g.chr14:76633061G>T	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.718G>T	14.37:g.76633061G>T	ENSP00000261530:p.Gly240Trp		Somatic				GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W	p.G240W	NM_017926.2	NP_060396.2	WXS	Illumina GAIIx	Phase_I					3	784	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.718G>T	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141417	0.77775	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.60672	0.65;0.28;0.17;0.65	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.74007	0.3660	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;0.999;1.0	T	0.77013	-0.2745	10	0.87932	D	0	-49.2247	16.7426	0.85463	0.0:0.0:1.0:0.0	.	240;240;240	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	W	240	ENSP00000451587:G240W;ENSP00000323775:G240W;ENSP00000261530:G240W;ENSP00000450657:G240W	ENSP00000261530:G240W	G	+	1	0	C14orf118	75702814	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.455000	0.80726	2.363000	0.80096	0.591000	0.81541	GGG		0.433	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		4	59	4	59	---	---	---	---	T	76633061	G	T	76633061	3	4	9	1	0	0	0	0	1	0	0	0	1741	1000	35	1	724	1	C14orf118	14	76633061	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1756981	76633061	30716479	668	907										
FLRT2	23768	broad.mit.edu	37	chr14	86088951	86088951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcctgtcccaccacgaccCccggcctgcctctcttcacc	6	22	2	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.chr14:86088951C>A	ENST00000330753.4	+	2	1860	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	365					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)		CACCACGACCCCCGGCCTGCC	0.572																																						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.(1093-1095)Ccc>Acc		fibronectin leucine rich transmembrane protein 2							75	84	81					14																	86088951		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088951C>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.1093C>A	14.37:g.86088951C>A	ENSP00000332879:p.Pro365Thr		Somatic				FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	p.P365T	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1860	+			365					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1093C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837080	0.32513	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58652	0.32;0.32	6.07	6.07	0.98685	.	0.327380	0.34002	N	0.004358	T	0.39655	0.1086	N	0.08118	0	0.48975	D	0.999732	B	0.26363	0.147	B	0.15870	0.014	T	0.22977	-1.0201	10	0.20046	T	0.44	-17.4318	20.6439	0.99570	0.0:1.0:0.0:0.0	.	365	O43155	FLRT2_HUMAN	T	365;365;18	ENSP00000332879:P365T;ENSP00000451050:P365T	ENSP00000332879:P365T	P	+	1	0	FLRT2	85158704	0.974000	0.33945	0.966000	0.40874	0.979000	0.70002	3.862000	0.56009	2.884000	0.98904	0.655000	0.94253	CCC		0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			5	153	5	153	---	---	---	---	A	86088951	C	A	86088951	3	1	9	1	0	0	0	0	1	0	0	0	5939	623	22	1	1095	1	FLRT2	14	86088951	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9455890	86088951	21260589	669	908										
KCNK13	56659	broad.mit.edu	37	chr14	90650658	90650658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagagcctgaaggatgcgGggcagtgtgaggtggacagc	20	6	0	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.chr14:90650658G>T	ENST00000282146.4	+	2	979	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	180					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)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAAGGATGCGGGGCAGTGTGA	0.632																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(538-540)Ggg>Tgg		potassium channel, subfamily K, member 13							92	85	88					14																	90650658		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650658G>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.538G>T	14.37:g.90650658G>T	ENSP00000282146:p.Gly180Trp		Somatic					p.G180W	NM_022054.2	NP_071337.2	WXS	Illumina GAIIx	Phase_I	Q9HB14	KCNKD_HUMAN			2	979	+		all_cancers(154;0.186)	180					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.538G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	8.993	0.978311	0.18812	.	.	ENSG00000152315	ENST00000282146	T	0.13538	2.58	4.96	3.01	0.34805	.	0.896444	0.09199	N	0.834977	T	0.18593	0.0446	L	0.46157	1.445	0.18873	N	0.999986	P	0.49783	0.928	P	0.48089	0.566	T	0.16512	-1.0400	10	0.72032	D	0.01	.	7.9248	0.29867	0.0901:0.0:0.7519:0.1581	.	180	Q9HB14	KCNKD_HUMAN	W	180	ENSP00000282146:G180W	ENSP00000282146:G180W	G	+	1	0	KCNK13	89720411	0.707000	0.27866	0.001000	0.08648	0.004000	0.04260	2.596000	0.46205	0.397000	0.25310	0.655000	0.94253	GGG		0.632	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		6	187	6	187	---	---	---	---	T	90650658	G	T	90650658	3	4	9	1	0	0	0	0	1	0	0	0	8061	1232	43	1	544	1	KCNK13	14	90650658	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4561707	90650658	16698882	670	909										
CATSPERB	79820	broad.mit.edu	37	chr14	92102831	92102831	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgctgtagatcgtttcctgGggttcgttctcaggtacata	11	8	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.chr14:92102831G>T	ENST00000256343.3	-	17	1836	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	560					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)				TCGTTTCCTGGGGTTCGTTCT	0.428																																						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.(1678-1680)ccC>ccA		catsper channel auxiliary subunit beta							166	150	155					14																	92102831		2203	4300	6503	SO:0001819	synonymous_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92102831G>T	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.1680C>A	14.37:g.92102831G>T			Somatic					p.P560P	NM_024764.2	NP_079040.2	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			17	1836	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	560					A0AV51	Silent	SNP	ENST00000256343.3	37	c.1680C>A	CCDS32142.1																																																																																				0.428	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		6	207	6	207	---	---	---	---	T	92102831	G	T	92102831	2	4	9	1	0	0	0	0	0	0	0	1	2691	1219	43	1		1	CATSPERB	14	92102831	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1452173	92102831	15246709	671	910										
KIAA1409	57578	broad.mit.edu	37	chr14	93994952	93994952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgttgggtgataaaccacccCcgttgtatctctgtgaagaa	10	10	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.chr14:93994952C>A	ENST00000393151.2	+	9	1012	c.1012C>A	c.(1012-1014)Ccg>Acg	p.P338T	UNC79_ENST00000256339.4_Missense_Mutation_p.P161T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000553484.1_Missense_Mutation_p.P338T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	338					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						TAAACCACCCCCGTTGTATCT	0.403																																						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.(1012-1014)Ccg>Acg		unc-79 homolog (C. elegans)							120	116	117					14																	93994952		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93994952C>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.1012C>A	14.37:g.93994952C>A	ENSP00000376858:p.Pro338Thr		Somatic				UNC79_ENST00000393151.2_Missense_Mutation_p.P338T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T	p.P338T			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			9	1166	+			338					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1012C>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.507655	0.85282	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26810	1.72;1.72;1.71;1.72	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.48352	0.1495	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.46735	-0.9170	10	0.87932	D	0	-14.4011	19.0659	0.93110	0.0:1.0:0.0:0.0	.	338;338	C9JQL1;Q9P2D8	.;UNC79_HUMAN	T	161;338;338;338;338	ENSP00000256339:P161T;ENSP00000450868:P338T;ENSP00000451360:P338T;ENSP00000376858:P338T	ENSP00000256339:P161T	P	+	1	0	KIAA1409	93064705	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.601000	0.82783	2.489000	0.83994	0.655000	0.94253	CCG		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	180	5	180	---	---	---	---	A	93994952	C	A	93994952	3	1	9	1	0	0	0	0	1	0	0	0	8230	623	22	1	503	1	KIAA1409	14	93994952	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1892121	93994952	13354588	672	911										
SERPINA10	51156	broad.mit.edu	37	chr14	94756493	94756493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagagggtctctctgagtccCttaaagagggaaggcaggag	16	7	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.chr14:94756493C>A	ENST00000393096.1	-	2	903	c.438G>T	c.(436-438)aaG>aaT	p.K146N	SERPINA10_ENST00000554723.1_Missense_Mutation_p.K186N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N|SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	146	Heparin-binding.				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)		CTCTGAGTCCCTTAAAGAGGG	0.572																																						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.(556-558)aaG>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							50	57	54					14																	94756493		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756493C>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.438G>T	14.37:g.94756493C>A	ENSP00000376809:p.Lys146Asn		Somatic				SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N	p.K186N			WXS	Illumina GAIIx	Phase_I	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	976	-		all_cancers(154;0.105)	146					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.558G>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161433	0.21538	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.87	1.99	0.26369	Serpin domain (3);	0.497822	0.19020	N	0.124860	D	0.83599	0.5289	L	0.49126	1.545	0.09310	N	0.999993	P	0.39311	0.667	B	0.41619	0.361	T	0.76024	-0.3110	10	0.72032	D	0.01	.	2.4641	0.04548	0.2128:0.4022:0.0:0.385	.	146	Q9UK55	ZPI_HUMAN	N	186;146;146;146	ENSP00000450896:K186N;ENSP00000376809:K146N;ENSP00000261994:K146N;ENSP00000450971:K146N	ENSP00000261994:K146N	K	-	3	2	SERPINA10	93826246	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.525000	0.22956	0.451000	0.26802	0.313000	0.20887	AAG		0.572	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		6	185	6	185	---	---	---	---	A	94756493	C	A	94756493	3	1	9	1	0	0	0	0	1	0	0	0	14087	680	24	1	912	1	SERPINA10	14	94756493	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	761541	94756493	12593047	673	912										
DICER1	23405	broad.mit.edu	37	chr14	95557424	95557424	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattctcgcacaggggaacgGggtacatttgcagaaaactt	11	8	1	1	rs377325189		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.chr14:95557424G>T	ENST00000526495.1	-	28	5841	c.5550C>A	c.(5548-5550)ccC>ccA	p.P1850P	DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Missense_Mutation_p.P1796H|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1850	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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)		CAGGGGAACGGGGTACATTTG	0.303			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000541352.1			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.(5386-5388)cCc>cAc		dicer 1, ribonuclease type III							54	54	54					14																	95557424		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.chr14:95557424G>T	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.5550C>A	14.37:g.95557424G>T			Somatic				DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000526495.1_Silent_p.P1850P|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR	p.P1796H	NM_001195573.1	NP_001182502.1	WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	5395	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	0			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5387C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355307	0.24512	.	.	ENSG00000100697	ENST00000541352	T	0.49720	0.77	5.93	3.67	0.42095	.	0.103382	0.64402	D	0.000002	T	0.41328	0.1154	.	.	.	0.24501	N	0.994254	.	.	.	.	.	.	T	0.27739	-1.0065	7	0.40728	T	0.16	-19.2926	6.2871	0.21039	0.1866:0.1424:0.671:0.0	.	.	.	.	H	1796	ENSP00000444719:P1796H	ENSP00000444719:P1796H	P	-	2	0	DICER1	94627177	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	0.489000	0.22387	0.537000	0.28751	0.655000	0.94253	CCC		0.303	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			5	138	5	138	---	---	---	---	T	95557424	G	T	95557424	2	4	9	1	0	0	0	0	0	0	0	1	4521	1219	43	1		1	DICER1	14	95557424	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	800931	95557424	11792116	674	913										
DYNC1H1	1778	broad.mit.edu	37	chr14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgcgattttactttgaccCtaagcaaactgatgtgttac	8	8	0	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.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	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						TACTTTGACCCTAAGCAAACT	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.(5542-5544)cCt>cAt		dynein, cytoplasmic 1, heavy chain 1							151	142	145					14																	102472334		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.chr14:102472334C>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.5543C>A	14.37:g.102472334C>A	ENSP00000348965:p.Pro1848His		Somatic					p.P1848H	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			27	5707	+			1848			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5543C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	301	6	301	---	---	---	---	A	102472334	C	A	102472334	3	1	9	1	0	0	0	0	1	0	0	0	4841	681	24	1	5649	1	DYNC1H1	14	102472334	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6914910	102472334	4877206	675	914										
DYNC1H1	1778	broad.mit.edu	37	chr14	102500413	102500413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagatgtccaccattgctgGggactgtctcttgtcagctg	11	12	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.chr14:102500413G>T	ENST00000360184.4	+	55	10678	c.10514G>T	c.(10513-10515)gGg>gTg	p.G3505V	RP11-1017G21.4_ENST00000557242.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3505					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						ACCATTGCTGGGGACTGTCTC	0.488																																						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.(10513-10515)gGg>gTg		dynein, cytoplasmic 1, heavy chain 1							199	198	198					14																	102500413		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.chr14:102500413G>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.10514G>T	14.37:g.102500413G>T	ENSP00000348965:p.Gly3505Val		Somatic				DYNC1H1_ENST00000556791.1_3'UTR	p.G3505V	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			55	10678	+			3505					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10514G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577267	0.86645	.	.	ENSG00000197102	ENST00000360184	D	0.83163	-1.69	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95233	0.8344	10	0.87932	D	0	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	3505	Q14204	DYHC1_HUMAN	V	3505	ENSP00000348965:G3505V	ENSP00000348965:G3505V	G	+	2	0	DYNC1H1	101570166	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	9.755000	0.98912	2.648000	0.89879	0.561000	0.74099	GGG		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	398	8	398	---	---	---	---	T	102500413	G	T	102500413	3	4	9	1	0	0	0	0	1	0	0	0	4841	1232	43	1	10732	1	DYNC1H1	14	102500413	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	28079	102500413	4849127	676	915										
TNFAIP2	7127	broad.mit.edu	37	chr14	103601680	103601680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcccggcccctattttccCttataaaggttggttagctt	7	13	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.chr14:103601680C>A	ENST00000560869.1	+	12	2587	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	650					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				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)			CCTATTTTCCCTTATAAAGGT	0.597																																						ENST00000560869.1																			0				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.(1948-1950)Ctt>Att		tumor necrosis factor, alpha-induced protein 2							112	126	121					14																	103601680		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103601680C>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.1948C>A	14.37:g.103601680C>A	ENSP00000452634:p.Leu650Ile		Somatic				TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I	p.L650I			WXS	Illumina GAIIx	Phase_I	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		12	2587	+		Melanoma(154;0.155)	650					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1948C>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.932010	0.34096	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.06768	3.26;3.26;3.26	4.54	1.61	0.23674	.	1.385860	0.04431	N	0.369208	T	0.17023	0.0409	L	0.50333	1.59	0.09310	N	1	B;P;D	0.53312	0.428;0.92;0.959	B;P;P	0.60236	0.109;0.726;0.871	T	0.20240	-1.0281	10	0.22109	T	0.4	-7.7238	3.7688	0.08633	0.1936:0.5983:0.0:0.2081	.	133;427;650	F6RNL3;A1A584;Q03169	.;.;TNAP2_HUMAN	I	650;319;133	ENSP00000332326:L650I;ENSP00000393256:L319I;ENSP00000446171:L133I	ENSP00000332326:L650I	L	+	1	0	TNFAIP2	102671433	0.004000	0.15560	0.008000	0.14137	0.738000	0.42128	0.602000	0.24134	0.464000	0.27142	0.291000	0.19559	CTT		0.597	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		6	354	6	354	---	---	---	---	A	103601680	C	A	103601680	3	1	9	1	0	0	0	0	1	0	0	0	16270	681	24	1	1990	1	TNFAIP2	14	103601680	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1101267	103601680	3747860	677	916										
AHNAK2	113146	broad.mit.edu	37	chr14	105409232	105409232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacctccaggtcggcggaagGggactgaatgctgaggtcag	17	9	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.chr14:105409232G>T	ENST00000333244.5	-	7	12675	c.12556C>A	c.(12556-12558)Cct>Act	p.P4186T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4186						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)			TCGGCGGAAGGGGACTGAATG	0.657																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12556-12558)Cct>Act		AHNAK nucleoprotein 2							148	151	150					14																	105409232		1960	4132	6092	SO:0001583	missense	113146					nucleus		g.chr14:105409232G>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.12556C>A	14.37:g.105409232G>T	ENSP00000353114:p.Pro4186Thr		Somatic				AHNAK2_ENST00000557457.1_Intron	p.P4186T	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	12675	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4186					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12556C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.019634	0.54576	.	.	ENSG00000185567	ENST00000333244	T	0.02015	4.5	3.28	3.28	0.37604	.	0.301034	0.18010	U	0.154586	T	0.16428	0.0395	M	0.93106	3.38	0.21256	N	0.999745	D	0.89917	1.0	D	0.91635	0.999	T	0.04427	-1.0952	10	0.45353	T	0.12	.	13.769	0.63012	0.0:0.0:1.0:0.0	.	4186	Q8IVF2	AHNK2_HUMAN	T	4186	ENSP00000353114:P4186T	ENSP00000353114:P4186T	P	-	1	0	AHNAK2	104480277	0.990000	0.36364	0.075000	0.20258	0.050000	0.14768	3.346000	0.52190	1.685000	0.51034	0.306000	0.20318	CCT		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	344	9	344	---	---	---	---	T	105409232	G	T	105409232	3	4	9	1	0	0	0	0	1	0	0	0	415	1232	43	1	4835	1	AHNAK2	14	105409232	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1807552	105409232	1940308	678	917										
HERC2	8924	broad.mit.edu	37	chr15	28370323	28370323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtccctcatcattgtcgccCcatgtataaacctcacctga	5	15	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.chr15:28370323C>A	ENST00000261609.7	-	84	12927	c.12819G>T	c.(12817-12819)tgG>tgT	p.W4273C		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)		CATTGTCGCCCCATGTATAAA	0.522																																						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.(12817-12819)tgG>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							204	185	192					15																	28370323		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.chr15:28370323C>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.12819G>T	15.37:g.28370323C>A	ENSP00000261609:p.Trp4273Cys		Somatic					p.W4273C	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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)	84	12927	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4273						Missense_Mutation	SNP	ENST00000261609.7	37	c.12819G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338293	0.81911	.	.	ENSG00000128731	ENST00000261609	D	0.92348	-3.02	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95968	0.8687	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96402	0.9297	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4273	O95714	HERC2_HUMAN	C	4273	ENSP00000261609:W4273C	ENSP00000261609:W4273C	W	-	3	0	HERC2	26043918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	TGG		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	304	7	304	---	---	---	---	A	28370323	C	A	28370323	3	1	9	1	0	0	0	0	1	0	0	0	7058	624	22	1	1725	1	HERC2	15	28370323	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		28370323	74161069	679	918										
TMEM85	51234	broad.mit.edu	37	chr15	34520689	34520689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggtttggtctatctcattGggaacctgatgggtttggca	14	6	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.chr15:34520689G>T	ENST00000267750.4	+	4	531	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	139					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTATCTCATTGGGAACCTGAT	0.448																																						ENST00000267750.4																			0											c.(415-417)Ggg>Tgg		ER membrane protein complex subunit 4							211	193	199					15																	34520689		2201	4298	6499	SO:0001583	missense	51234							g.chr15:34520689G>T	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.415G>T	15.37:g.34520689G>T	ENSP00000267750:p.Gly139Trp		Somatic				EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	p.G139W	NM_016454.2	NP_057538.1	WXS	Illumina GAIIx	Phase_I					4	531	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.415G>T	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752815	0.89753	.	.	ENSG00000128463	ENST00000267750	T	0.44881	0.91	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65088	-0.6253	10	0.38643	T	0.18	-14.8081	19.3116	0.94189	0.0:0.0:1.0:0.0	.	139	Q5J8M3	TMM85_HUMAN	W	139	ENSP00000267750:G139W	ENSP00000267750:G139W	G	+	1	0	TMEM85	32307981	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.801000	0.91905	2.864000	0.98301	0.549000	0.68633	GGG		0.448	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		7	400	7	400	---	---	---	---	T	34520689	G	T	34520689	3	4	9	1	0	0	0	0	1	0	0	0	16204	1348	47	1	429	1	TMEM85	15	34520689	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6150366	34520689	68010703	680	919										
MEIS2	4212	broad.mit.edu	37	chr15	37184642	37184642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccctgagaaacgtagtccCctggcatgctctgcaaacct	8	15	1	1	rs531139958		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.chr15:37184642C>A	ENST00000561208.1	-	12	1584	c.1166G>T	c.(1165-1167)gGg>gTg	p.G389V	MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.G382V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000444725.1_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	389	Transcriptional activation domain.				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)	p.G389V(1)		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)		AACGTAGTCCCCTGGCATGCT	0.433																																						ENST00000338564.5																			1	Substitution - Missense(1)	p.G389V(1)	lung(1)	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.(1144-1146)gGg>gTg		Meis homeobox 2							162	164	163					15																	37184642		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.chr15:37184642C>A	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.1166G>T	15.37:g.37184642C>A	ENSP00000453793:p.Gly389Val		Somatic				MEIS2_ENST00000561208.1_Missense_Mutation_p.G389V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR	p.G382V	NM_001220482.1	NP_001207411.1	WXS	Illumina GAIIx	Phase_I	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	13	1591	-		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)	389					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1145G>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571417	0.45798	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87256	-2.23;-2.23	5.24	4.32	0.51571	.	0.061993	0.64402	D	0.000004	D	0.91994	0.7464	M	0.66939	2.045	0.80722	D	1	D;D;P;D	0.89917	0.963;1.0;0.79;1.0	P;D;B;D	0.85130	0.692;0.981;0.297;0.997	D	0.91910	0.5539	10	0.48119	T	0.1	-4.9063	14.0407	0.64674	0.0:0.9273:0.0:0.0727	.	382;389;369;85	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	V	389;382;382	ENSP00000341400:G382V;ENSP00000372216:G382V	ENSP00000326296:G389V	G	-	2	0	MEIS2	34971934	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.601000	0.82783	1.427000	0.47276	0.655000	0.94253	GGG		0.433	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		7	404	7	404	---	---	---	---	A	37184642	C	A	37184642	3	1	9	1	0	0	0	0	1	0	0	0	9468	623	22	1	271	1	MEIS2	15	37184642	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2663953	37184642	65346750	681	920										
VPS18	57617	broad.mit.edu	37	chr15	41192388	41192388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctactttgaggagattgccCtcaagttcctggaggcccga	12	11	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.chr15:41192388C>A	ENST00000220509.5	+	4	1711	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	458					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)		GGAGATTGCCCTCAAGTTCCT	0.617																																						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.(1372-1374)Ctc>Atc		vacuolar protein sorting 18 homolog (S. cerevisiae)							57	62	61					15																	41192388		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192388C>A	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.1372C>A	15.37:g.41192388C>A	ENSP00000220509:p.Leu458Ile		Somatic				VPS18_ENST00000558474.1_Intron	p.L458I	NM_020857.2	NP_065908.1	WXS	Illumina GAIIx	Phase_I	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1711	+		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)	458					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1372C>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781713	0.70222	.	.	ENSG00000104142	ENST00000220509	T	0.21734	1.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59516	-0.7440	10	0.52906	T	0.07	-32.9475	19.3228	0.94248	0.0:1.0:0.0:0.0	.	458	Q9P253	VPS18_HUMAN	I	458	ENSP00000220509:L458I	ENSP00000220509:L458I	L	+	1	0	VPS18	38979680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.986000	0.56937	2.633000	0.89246	0.561000	0.74099	CTC		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			5	163	5	163	---	---	---	---	A	41192388	C	A	41192388	3	1	9	1	0	0	0	0	1	0	0	0	17191	681	24	1	1386	1	VPS18	15	41192388	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4007746	41192388	61339004	682	921										
CKMT1B	1159	broad.mit.edu	37	chr15	43891443	43891443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggccaggatatccgcatccCcacacctgtcatccacacca	6	18	1	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.chr15:43891443C>A	ENST00000441322.1	+	9	1586	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	CKMT1B_ENST00000300283.6_Missense_Mutation_p.P409H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	409					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)	ATCCGCATCCCCACACCTGTC	0.502																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1225-1227)cCc>cAc		creatine kinase, mitochondrial 1B	Creatine(DB00148)						149	133	138					15																	43891443		2200	4294	6494	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891443C>A	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.1226C>A	15.37:g.43891443C>A	ENSP00000413255:p.Pro409His		Somatic				CKMT1B_ENST00000441322.1_Missense_Mutation_p.P409H	p.P409H	NM_020990.3	NP_066270.1	WXS	Illumina GAIIx	Phase_I	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1618	+		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)	409					B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1226C>A	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009638	0.35415	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.21932	1.98;1.98	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.81914	0.834;0.995	T	0.48317	-0.9046	10	0.59425	D	0.04	-15.053	15.6816	0.77373	0.0:1.0:0.0:0.0	.	440;409	P12532-2;P12532	.;KCRU_HUMAN	H	409	ENSP00000300283:P409H;ENSP00000413255:P409H	ENSP00000300283:P409H	P	+	2	0	CKMT1B	41678735	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.925000	0.70062	2.247000	0.74100	0.313000	0.20887	CCC		0.502	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		5	159	5	159	---	---	---	---	A	43891443	C	A	43891443	3	1	9	1	0	0	0	0	1	0	0	0	3450	623	22	1	1260	1	CKMT1B	15	43891443	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2699055	43891443	58639949	683	922										
CASC4	113201	broad.mit.edu	37	chr15	44671971	44671971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactggacaacctctctccCcaaatatgcctccaggtatg	6	15	1	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.chr15:44671971C>A	ENST00000345795.2	+	7	1156	c.886C>A	c.(886-888)Cca>Aca	p.P296T	CASC4_ENST00000299957.6_Missense_Mutation_p.P296T|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	296						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACCTCTCTCCCCAAATATGCC	0.353																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(886-888)Cca>Aca		cancer susceptibility candidate 4							120	125	123					15																	44671971		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44671971C>A	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.886C>A	15.37:g.44671971C>A	ENSP00000335063:p.Pro296Thr		Somatic				CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.P296T	p.P296T	NM_138423.3	NP_612432.2	WXS	Illumina GAIIx	Phase_I	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	7	1185	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	296					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.886C>A	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232428	0.39498	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	5.46	1.42	0.22433	.	0.498148	0.22272	N	0.062249	T	0.55226	0.1907	L	0.59436	1.845	0.58432	D	0.999998	P;B;D	0.61697	0.836;0.449;0.99	B;B;P	0.59595	0.44;0.185;0.86	T	0.52465	-0.8572	9	0.15952	T	0.53	.	5.901	0.18965	0.0:0.5369:0.2968:0.1663	.	296;296;296	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	T	296;296;275	.	ENSP00000299957:P296T	P	+	1	0	CASC4	42459263	0.505000	0.26131	0.585000	0.28666	0.919000	0.55068	0.825000	0.27393	0.015000	0.14971	0.655000	0.94253	CCA		0.353	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		6	294	6	294	---	---	---	---	A	44671971	C	A	44671971	3	1	9	1	0	0	0	0	1	0	0	0	2662	623	22	1	912	1	CASC4	15	44671971	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	780528	44671971	57859421	684	923										
HDC	3067	broad.mit.edu	37	chr15	50534614	50534614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctggaaaagattctgaccCtggaggagcccccattcttc	9	13	2	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.chr15:50534614C>A	ENST00000267845.3	-	12	2234	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R578M	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)		GATTCTGACCCTGGAGGAGCC	0.502																																					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.(1831-1833)aGg>aTg		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						116	133	127					15																	50534614		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534614C>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.1832G>T	15.37:g.50534614C>A	ENSP00000267845:p.Arg611Met		Somatic				HDC_ENST00000543581.1_Missense_Mutation_p.R578M	p.R611M	NM_002112.3	NP_002103.2	WXS	Illumina GAIIx	Phase_I	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	2234	-		all_lung(180;0.0138)	611						Missense_Mutation	SNP	ENST00000267845.3	37	c.1832G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140806	0.21205	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10573	2.97;2.86	5.48	3.46	0.39613	.	0.306999	0.23107	N	0.051852	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	P;B	0.38642	0.641;0.412	B;B	0.40702	0.338;0.125	T	0.14755	-1.0461	10	0.87932	D	0	-20.2321	8.1457	0.31110	0.0:0.6093:0.3046:0.0862	.	578;611	B7ZM01;P19113	.;DCHS_HUMAN	M	611;578	ENSP00000267845:R611M;ENSP00000440252:R578M	ENSP00000267845:R611M	R	-	2	0	HDC	48321906	0.000000	0.05858	0.040000	0.18447	0.520000	0.34377	0.621000	0.24418	1.280000	0.44463	0.563000	0.77884	AGG		0.502	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			7	395	7	395	---	---	---	---	A	50534614	C	A	50534614	3	1	9	1	0	0	0	0	1	0	0	0	7015	681	24	1	160	1	HDC	15	50534614	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5862643	50534614	51996778	685	924										
DMXL2	23312	broad.mit.edu	37	chr15	51763506	51763506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctgcaggcaccggtggtgGggtagcatcttttacaggcc	14	10	2	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.chr15:51763506G>T	ENST00000251076.5	-	29	7590	c.7303C>A	c.(7303-7305)Cca>Aca	p.P2435T	DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2435						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		ACCGGTGGTGGGGTAGCATCT	0.433																																						ENST00000251076.5																			0				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.(7303-7305)Cca>Aca		Dmx-like 2							190	185	186					15																	51763506		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763506G>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.7303C>A	15.37:g.51763506G>T	ENSP00000251076:p.Pro2435Thr		Somatic				DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T	p.P2435T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7590	-			2435					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7303C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275993	0.80580	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23348	2.05;2.05;1.91	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.47716	1.5	0.80722	D	1	D;D;D;B	0.89917	0.999;0.999;1.0;0.049	D;D;D;B	0.83275	0.934;0.991;0.996;0.027	T	0.06899	-1.0801	10	0.08179	T	0.78	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	2436;1799;2435;2436	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2435;2436;1799	ENSP00000251076:P2435T;ENSP00000441858:P2436T;ENSP00000400855:P1799T	ENSP00000251076:P2435T	P	-	1	0	DMXL2	49550798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.985000	0.93487	2.758000	0.94735	0.561000	0.74099	CCA		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	426	7	426	---	---	---	---	T	51763506	G	T	51763506	3	4	9	1	0	0	0	0	1	0	0	0	4595	1232	43	1	1867	1	DMXL2	15	51763506	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1228892	51763506	50767886	686	925										
MYO5A	4644	broad.mit.edu	37	chr15	52675337	52675337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatacagcgcacatagtgagGggtagtggcattgagtgtct	15	6	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.chr15:52675337G>T	ENST00000399231.3	-	16	2206	c.1963C>A	c.(1963-1965)Cct>Act	p.P655T	MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	655	Actin-binding. {ECO:0000255}.|Myosin motor.				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)		ACATAGTGAGGGGTAGTGGCA	0.438																																						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.(1963-1965)Cct>Act		myosin VA (heavy chain 12, myoxin)							186	172	177					15																	52675337		1976	4169	6145	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.chr15:52675337G>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.1963C>A	15.37:g.52675337G>T	ENSP00000382177:p.Pro655Thr		Somatic				MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T	p.P655T	NM_000259.3	NP_000250	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	16	2206	-			655			Actin-binding (Potential).|Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1963C>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835086	0.91117	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.68	5.68	0.88126	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	D	0.96744	0.9549	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	655;655	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	655;189;655;655;655;285;655	ENSP00000382177:P655T;ENSP00000382179:P655T;ENSP00000348693:P655T;ENSP00000350945:P655T;ENSP00000451109:P655T	ENSP00000348693:P655T	P	-	1	0	MYO5A	50462629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.694000	0.91930	0.557000	0.71058	CCT		0.438	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	293	7	293	---	---	---	---	T	52675337	G	T	52675337	3	4	9	1	0	0	0	0	1	0	0	0	10078	1232	43	1	3708	1	MYO5A	15	52675337	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	911831	52675337	49856055	687	926										
ONECUT1	3175	broad.mit.edu	37	chr15	53081150	53081150	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcgcgaagatggcctgtGggatgctgtagcgcttgagc	16	9	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.chr15:53081150G>T	ENST00000305901.5	-	1	1059	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	311					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)		GATGGCCTGTGGGATGCTGTA	0.602																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(931-933)cCa>cAa		one cut homeobox 1							150	132	138					15																	53081150		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.chr15:53081150G>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.932C>A	15.37:g.53081150G>T	ENSP00000302630:p.Pro311Gln		Somatic				ONECUT1_ENST00000561401.2_Intron	p.P311Q	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1059	-			311					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.932C>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095616	0.76870	.	.	ENSG00000169856	ENST00000305901	T	0.54479	0.57	4.73	4.73	0.59995	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80502	-0.1354	10	0.87932	D	0	-3.6791	16.4501	0.83977	0.0:0.0:1.0:0.0	.	311	Q9UBC0	HNF6_HUMAN	Q	311	ENSP00000302630:P311Q	ENSP00000302630:P311Q	P	-	2	0	ONECUT1	50868442	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.587000	0.98229	2.437000	0.82529	0.609000	0.83330	CCA		0.602	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	133	4	133	---	---	---	---	T	53081150	G	T	53081150	3	4	9	1	0	0	0	0	1	0	0	0	10868	1348	47	1	473	1	ONECUT1	15	53081150	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	405813	53081150	49450242	688	927										
DYX1C1	161582	broad.mit.edu	37	chr15	55742473	55742473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgttgggaatactcgagGggtaaagttgattttaatac	12	4	0	1	rs374673795		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.chr15:55742473G>T	ENST00000321149.3	-	6	1097	c.730C>A	c.(730-732)Cct>Act	p.P244T	DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	244					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATACTCGAGGGGTAAAGTTG	0.363																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(730-732)Cct>Act		dyslexia susceptibility 1 candidate 1							91	90	91					15																	55742473		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55742473G>T		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.730C>A	15.37:g.55742473G>T	ENSP00000323275:p.Pro244Thr		Somatic				DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T	p.P244T	NM_130810.3	NP_570722.2	WXS	Illumina GAIIx	Phase_I	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	6	1097	-			244					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.730C>A	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828645	0.71258	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.64	5.64	0.86602	.	0.071053	0.56097	U	0.000026	T	0.71600	0.3359	L	0.58810	1.83	0.42331	D	0.992293	P;D;D	0.89917	0.776;0.968;1.0	P;P;D	0.91635	0.644;0.806;0.999	T	0.73157	-0.4071	10	0.72032	D	0.01	.	13.0465	0.58928	0.0783:0.0:0.9217:0.0	.	244;244;244	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	T	244	ENSP00000403412:P244T;ENSP00000370054:P244T;ENSP00000402640:P244T;ENSP00000323275:P244T;ENSP00000299561:P244T	ENSP00000323275:P244T	P	-	1	0	DYX1C1	53529765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.413000	0.52686	2.834000	0.97654	0.650000	0.86243	CCT		0.363	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		5	162	5	162	---	---	---	---	T	55742473	G	T	55742473	3	4	9	1	0	0	0	0	1	0	0	0	4862	1232	43	1	655	1	DYX1C1	15	55742473	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2661323	55742473	46788919	689	928										
ALDH1A2	8854	broad.mit.edu	37	chr15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaagagagaaagccaggcGggctgcctgcactgctttgt	13	11	0	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.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|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		Somatic				ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C	p.R85C	NM_003888.3	NP_003879.2	WXS	Illumina GAIIx	Phase_I	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	7	547	---	---	---	---	A	58306166	G	A	58306166	3	1	9	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	2563693	58306166	44225226	690	929										
SLTM	79811	broad.mit.edu	37	chr15	59180632	59180632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactctcaggaaacctgcccCtctctcggtgatcaaagtca	7	14	4	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.chr15:59180632C>A	ENST00000380516.2	-	17	2414	c.2327G>T	c.(2326-2328)aGg>aTg	p.R776M	SLTM_ENST00000536328.1_Missense_Mutation_p.R345M|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	776	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAACCTGCCCCTCTCTCGGTG	0.388																																						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.(2326-2328)aGg>aTg		SAFB-like, transcription modulator							130	120	123					15																	59180632		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59180632C>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.2327G>T	15.37:g.59180632C>A	ENSP00000369887:p.Arg776Met		Somatic				SLTM_ENST00000536328.1_Missense_Mutation_p.R345M	p.R776M	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	WXS	Illumina GAIIx	Phase_I	Q9NWH9	SLTM_HUMAN			17	2414	-			776			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2327G>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	33	5.268685	0.95429	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.23147	1.92	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000010	T	0.54334	0.1852	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.48937	-0.8990	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	776;345	Q9NWH9;A8K5V8	SLTM_HUMAN;.	M	776;342;345	ENSP00000369887:R776M	ENSP00000369887:R776M	R	-	2	0	SLTM	56967924	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.625000	0.83145	2.885000	0.99019	0.655000	0.94253	AGG		0.388	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		6	228	6	228	---	---	---	---	A	59180632	C	A	59180632	3	1	9	1	0	0	0	0	1	0	0	0	14754	681	24	1	797	1	SLTM	15	59180632	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	874466	59180632	43350760	691	930										
MYO1E	4643	broad.mit.edu	37	chr15	59510201	59510201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggattcggatttgcctccCcacttgctatccatctgccg	8	14	1	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.chr15:59510201C>A	ENST00000288235.4	-	10	1395	c.996G>T	c.(994-996)tgG>tgT	p.W332C	AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	332	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)		ATTTGCCTCCCCACTTGCTAT	0.517																																						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.(994-996)tgG>tgT		myosin IE							187	169	175					15																	59510201		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.chr15:59510201C>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.996G>T	15.37:g.59510201C>A	ENSP00000288235:p.Trp332Cys		Somatic					p.W332C	NM_004998.3	NP_004989.2	WXS	Illumina GAIIx	Phase_I	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	10	1395	-			332			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.996G>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111312	0.77210	.	.	ENSG00000157483	ENST00000288235	D	0.86432	-2.12	4.69	4.69	0.59074	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94713	0.7894	10	0.41790	T	0.15	.	17.8209	0.88650	0.0:1.0:0.0:0.0	.	332	Q12965	MYO1E_HUMAN	C	332	ENSP00000288235:W332C	ENSP00000288235:W332C	W	-	3	0	MYO1E	57297493	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.651000	0.83577	2.437000	0.82529	0.462000	0.41574	TGG		0.517	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		6	269	6	269	---	---	---	---	A	59510201	C	A	59510201	3	1	9	1	0	0	0	0	1	0	0	0	10072	624	22	1	2406	1	MYO1E	15	59510201	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	329569	59510201	43021191	692	931										
SPESP1	246777	broad.mit.edu	37	chr15	69238017	69238017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacctagtacgaagtgttccCtctggggagccaggtcgtga	13	10	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.chr15:69238017C>A	ENST00000310673.3	+	2	298	c.144C>A	c.(142-144)ccC>ccA	p.P48P	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	48					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGTGTTCCCTCTGGGGAGC	0.373																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(142-144)ccC>ccA		sperm equatorial segment protein 1							87	91	90					15																	69238017		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238017C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.144C>A	15.37:g.69238017C>A			Somatic				RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.P48P	NM_145658.3	NP_663633.1	WXS	Illumina GAIIx	Phase_I	Q6UW49	SPESP_HUMAN			2	298	+			48					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.144C>A	CCDS10230.1																																																																																				0.373	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		7	227	7	227	---	---	---	---	A	69238017	C	A	69238017	2	1	9	1	0	0	0	0	0	0	0	1	15039	668	24	1		1	SPESP1	15	69238017	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9727816	69238017	33293375	693	932										
TLE3	7090	broad.mit.edu	37	chr15	70358460	70358460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgctccctgtcactgggGggattcctggaggctggaga	16	10	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.chr15:70358460G>T	ENST00000558939.1	-	7	1847	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000440567.3_Missense_Mutation_p.P150H	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	157	Gly/Pro-rich.				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						TGTCACTGGGGGGATTCCTGG	0.667																																						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.(469-471)cCc>cAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							21	25	24					15																	70358460		1976	4165	6141	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70358460G>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.470C>A	15.37:g.70358460G>T	ENSP00000452871:p.Pro157His		Somatic				TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H	p.P157H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	WXS	Illumina GAIIx	Phase_I	Q04726	TLE3_HUMAN			7	1847	-			157			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.470C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134205	0.56828	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.56444	0.66;0.72;0.84;0.72;0.46	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.83012	2.62	0.80722	D	1	B;B;B;B;B;B;B;D	0.89917	0.077;0.083;0.016;0.377;0.036;0.048;0.077;1.0	B;B;B;B;B;B;B;D	0.75484	0.067;0.111;0.028;0.167;0.042;0.077;0.067;0.986	T	0.76812	-0.2821	10	0.44086	T	0.13	-18.511	15.8953	0.79329	0.0:0.0:0.8636:0.1364	.	150;157;157;157;157;157;162;101	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	H	157;157;157;150;101	ENSP00000390007:P157H;ENSP00000394717:P157H;ENSP00000319233:P157H;ENSP00000415057:P150H;ENSP00000442594:P101H	ENSP00000319233:P157H	P	-	2	0	TLE3	68145514	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.569000	0.98170	1.331000	0.45412	0.655000	0.94253	CCC		0.667	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		4	47	4	47	---	---	---	---	T	70358460	G	T	70358460	3	4	9	1	0	0	0	0	1	0	0	0	15937	1232	43	1	1904	1	TLE3	15	70358460	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1120443	70358460	32172932	694	933										
PARP6	56965	broad.mit.edu	37	chr15	72553902	72553902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttagggagcacttacttgGggatgggtgaaaagatgctg	15	5	0	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.chr15:72553902G>T	ENST00000569795.1	-	9	1229	c.542C>A	c.(541-543)cCc>cAc	p.P181H	PARP6_ENST00000287196.9_Missense_Mutation_p.P181H|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	181							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACTTACTTGGGGATGGGTGA	0.488																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(541-543)cCc>cAc		poly (ADP-ribose) polymerase family, member 6							222	222	222					15																	72553902		1985	4150	6135	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72553902G>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.542C>A	15.37:g.72553902G>T	ENSP00000456348:p.Pro181His		Somatic				PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000287196.9_Missense_Mutation_p.P181H	p.P181H			WXS	Illumina GAIIx	Phase_I	Q2NL67	PARP6_HUMAN			9	1229	-			181					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.542C>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	g	14.82	2.649962	0.47362	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.56	4.56	0.56223	.	0.050139	0.85682	D	0.000000	T	0.49847	0.1581	N	0.19112	0.55	0.41707	D	0.989437	P;D;P	0.63880	0.472;0.993;0.906	B;P;P	0.53185	0.205;0.72;0.533	T	0.51608	-0.8684	9	0.37606	T	0.19	.	16.3158	0.82923	0.0:0.0:1.0:0.0	.	181;181;133	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	H	181;181;181;46;46;181	.	ENSP00000260376:P181H	P	-	2	0	PARP6	70340956	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.703000	0.84585	2.244000	0.73946	0.436000	0.28706	CCC		0.488	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		6	386	6	386	---	---	---	---	T	72553902	G	T	72553902	3	4	9	1	0	0	0	0	1	0	0	0	11464	1232	43	1	1414	1	PARP6	15	72553902	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2195442	72553902	29977490	695	934										
C15orf59	388135	broad.mit.edu	37	chr15	74043425	74043425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgctcaccaccactgctgGggtcgtcactgggctgcccg	12	18	2	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.chr15:74043425G>T	ENST00000569673.1	-	2	1251	c.47C>A	c.(46-48)cCc>cAc	p.P16H	C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	16										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACTGCTGGGGTCGTCACT	0.652																																						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.(46-48)cCc>cAc		chromosome 15 open reading frame 59							70	62	65					15																	74043425		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74043425G>T		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.47C>A	15.37:g.74043425G>T	ENSP00000457205:p.Pro16His		Somatic				C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H	p.P16H			WXS	Illumina GAIIx	Phase_I	Q2T9L4	CO059_HUMAN			2	1251	-			16						Missense_Mutation	SNP	ENST00000569673.1	37	c.47C>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172717	0.78452	.	.	ENSG00000205363	ENST00000379822	.	.	.	4.82	3.91	0.45181	.	0.380199	0.27088	N	0.020997	T	0.52025	0.1709	L	0.27053	0.805	0.51012	D	0.999907	D	0.63046	0.992	P	0.57548	0.823	T	0.54715	-0.8252	9	0.87932	D	0	.	9.8739	0.41191	0.0964:0.0:0.9036:0.0	.	16	Q2T9L4	CO059_HUMAN	H	16	.	ENSP00000369150:P16H	P	-	2	0	C15orf59	71830478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.376000	0.66178	1.027000	0.39758	0.561000	0.74099	CCC		0.652	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		5	106	5	106	---	---	---	---	T	74043425	G	T	74043425	3	4	9	1	0	0	0	0	1	0	0	0	1807	1232	43	1	842	1	C15orf59	15	74043425	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1489523	74043425	28487967	696	935										
PML	5371	broad.mit.edu	37	chr15	74328275	74328275	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagcccagtcccaggcgccCgtcaagcaggcctctgagag	12	16	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.chr15:74328275C>A	ENST00000268058.3	+	7	1806				PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Missense_Mutation_p.R825S|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						CCCAGGCGCCCGTCAAGCAGG	0.622			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.(2473-2475)Cgt>Agt		promyelocytic leukemia							122	149	140					15																	74328275		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.chr15:74328275C>A	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+1404C>A	15.37:g.74328275C>A			Somatic				PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	p.R825S	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	WXS	Illumina GAIIx	Phase_I	P29590	PML_HUMAN			8	2569	+			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.2473C>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199655	0.22121	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.59	0.441	0.16577	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.15484	0.013;0.013	T	0.21861	-1.0233	8	0.72032	D	0.01	.	6.1018	0.20051	0.3658:0.4495:0.1847:0.0	.	777;825	P29590-13;P29590-8	.;.	S	825;777	.	ENSP00000268059:R825S	R	+	1	0	PML	72115328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	0.113000	0.18004	-0.518000	0.04402	CGT		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		7	424	7	424	---	---	---	---	A	74328275	C	A	74328275	1	1	9	0	1	0	0	0	0	0	0	0	12135	652	23	1		1	PML	15	74328275	Intron	SNP	C	TCGA-CH-5739-01A-11D-1576-08	284850	74328275	28203117	697	936										
EDC3	80153	broad.mit.edu	37	chr15	74948192	74948192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctttcatttgggatgccCcgggaacgggtaccacttct	12	12	2	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.chr15:74948192C>A	ENST00000315127.4	-	4	883	c.702G>T	c.(700-702)cgG>cgT	p.R234R	EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	234	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						TTGGGATGCCCCGGGAACGGG	0.498																																						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.(700-702)cgG>cgT		enhancer of mRNA decapping 3							126	113	118					15																	74948192		2197	4296	6493	SO:0001819	synonymous_variant	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948192C>A	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.702G>T	15.37:g.74948192C>A			Somatic				EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	WXS	Illumina GAIIx	Phase_I	Q96F86	EDC3_HUMAN			4	883	-			234			Required for interaction with DDX6 (By similarity).		B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	c.702G>T	CCDS10267.1																																																																																				0.498	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		5	185	5	185	---	---	---	---	A	74948192	C	A	74948192	2	1	9	1	0	0	0	0	0	0	0	1	4907	610	22	1		1	EDC3	15	74948192	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	619917	74948192	27583200	698	937										
BTBD1	53339	broad.mit.edu	37	chr15	83698965	83698965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgatgcagcattcctttccCctgagacagcatcttggtcg	9	12	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.chr15:83698965C>A	ENST00000261721.4	-	5	1180	c.978G>T	c.(976-978)agG>agT	p.R326S	RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	326					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.R326R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTCCTTTCCCCTGAGACAGC	0.453																																						ENST00000261721.4																			1	Substitution - coding silent(1)	p.R326R(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(976-978)agG>agT		BTB (POZ) domain containing 1							243	243	243					15																	83698965		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83698965C>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.978G>T	15.37:g.83698965C>A	ENSP00000261721:p.Arg326Ser		Somatic				RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S	p.R326S	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	WXS	Illumina GAIIx	Phase_I	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	5	1180	-			326					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.978G>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384726	0.25031	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.75821	-0.97;-0.89	5.15	-4.77	0.03219	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.16478	0.41	0.45852	D	0.99871	B;B	0.18968	0.032;0.004	B;B	0.20184	0.028;0.016	T	0.19582	-1.0301	10	0.09590	T	0.72	-18.6308	4.3045	0.10940	0.0967:0.4152:0.2172:0.2709	.	326;326	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	S	326	ENSP00000261721:R326S;ENSP00000368713:R326S	ENSP00000261721:R326S	R	-	3	2	BTBD1	81489969	0.495000	0.26051	0.162000	0.22713	0.832000	0.47134	-0.250000	0.08830	-0.816000	0.04340	-0.340000	0.08031	AGG		0.453	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			9	613	9	613	---	---	---	---	A	83698965	C	A	83698965	3	1	9	1	0	0	0	0	1	0	0	0	1537	622	22	1	486	1	BTBD1	15	83698965	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	8750773	83698965	18832427	699	938										
TM6SF1	53346	broad.mit.edu	37	chr15	83781633	83781633	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgtcaaaagaaaaccaccCcgggacccactgttctatgg	8	14	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.chr15:83781633C>A	ENST00000322019.9	+	2	451	c.177C>A	c.(175-177)ccC>ccA	p.P59P	TM6SF1_ENST00000379386.4_Silent_p.P59P|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	59			P -> S (in dbSNP:rs1989).			integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAAACCACCCCGGGACCCAC	0.483																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(175-177)ccC>ccA		transmembrane 6 superfamily member 1							135	120	125					15																	83781633		2203	4300	6503	SO:0001819	synonymous_variant	53346					integral to membrane		g.chr15:83781633C>A	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.177C>A	15.37:g.83781633C>A			Somatic				TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000379386.4_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P	p.P59P			WXS	Illumina GAIIx	Phase_I	Q9BZW5	TM6S1_HUMAN			2	451	+			59		P -> S (in dbSNP:rs1989).			A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	c.177C>A	CCDS10323.1																																																																																				0.483	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		7	174	7	174	---	---	---	---	A	83781633	C	A	83781633	2	1	9	1	0	0	0	0	0	0	0	1	15969	610	22	1		1	TM6SF1	15	83781633	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	82668	83781633	18749759	700	939										
ADAMTSL3	57188	broad.mit.edu	37	chr15	84373226	84373226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttctggaagacacaacagGggagcagttcctcacttatc	9	10	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.chr15:84373226G>T	ENST00000286744.5	+	3	379	c.155G>T	c.(154-156)gGg>gTg	p.G52V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						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)			GACACAACAGGGGAGCAGTTC	0.468																																						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.(154-156)gGg>gTg		ADAMTS-like 3							195	193	194					15																	84373226		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373226G>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.155G>T	15.37:g.84373226G>T	ENSP00000286744:p.Gly52Val		Somatic				ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	p.G52V	NM_207517.2	NP_997400.2	WXS	Illumina GAIIx	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	379	+			52					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.155G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497317	0.85069	.	.	ENSG00000156218	ENST00000286744	T	0.64438	-0.1	5.45	5.45	0.79879	.	0.161092	0.42053	D	0.000767	T	0.78272	0.4257	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78690	-0.2106	10	0.56958	D	0.05	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	52;52	P82987-2;P82987	.;ATL3_HUMAN	V	52	ENSP00000286744:G52V	ENSP00000286744:G52V	G	+	2	0	ADAMTSL3	82164230	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.699000	0.68310	2.569000	0.86673	0.655000	0.94253	GGG		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	425	10	425	---	---	---	---	T	84373226	G	T	84373226	3	4	9	1	0	0	0	0	1	0	0	0	276	1232	43	1	161	1	ADAMTSL3	15	84373226	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	591593	84373226	18158166	701	940										
AKAP13	11214	broad.mit.edu	37	chr15	86278321	86278321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtggtcggtcccgtttccCtgccccggagagcagagacc	13	14	0	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.chr15:86278321C>A	ENST00000394518.2	+	31	7476	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2461	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						TCCCGTTTCCCTGCCCCGGAG	0.507																																					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.(7381-7383)Ctg>Atg		A kinase (PRKA) anchor protein 13							185	184	184					15																	86278321		2202	4299	6501	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.chr15:86278321C>A	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.7381C>A	15.37:g.86278321C>A	ENSP00000378026:p.Leu2461Met		Somatic				AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M	p.L2461M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			31	7476	+			2461			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7381C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132476	0.56828	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.30714	1.52;1.52;1.52	5.77	-1.14	0.09741	.	.	.	.	.	T	0.54255	0.1847	M	0.80982	2.52	0.40265	D	0.97822	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.59558	-0.7432	9	0.72032	D	0.01	.	13.9442	0.64075	0.0:0.6627:0.0:0.3373	.	2461;2465	Q12802;Q12802-2	AKP13_HUMAN;.	M	2465;2461;2464;2440;706	ENSP00000354718:L2465M;ENSP00000378026:L2461M;ENSP00000378018:L706M	ENSP00000354718:L2465M	L	+	1	2	AKAP13	84079325	0.002000	0.14202	0.910000	0.35882	0.740000	0.42216	-0.124000	0.10595	-0.471000	0.06891	0.467000	0.42956	CTG		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	365	6	365	---	---	---	---	A	86278321	C	A	86278321	3	1	9	1	0	0	0	0	1	0	0	0	449	680	24	1	7569	1	AKAP13	15	86278321	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1905095	86278321	16253071	702	941										
ABHD2	11057	broad.mit.edu	37	chr15	89719095	89719095	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacatcaagaagacatatccCctgacccagctggtcgtcgt	8	13	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.chr15:89719095C>A	ENST00000352732.5	+	6	1111	c.591C>A	c.(589-591)ccC>ccA	p.P197P	ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	197					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			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)					AGACATATCCCCTGACCCAGC	0.522																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(589-591)ccC>ccA		abhydrolase domain containing 2							172	139	150					15																	89719095		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89719095C>A	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.591C>A	15.37:g.89719095C>A			Somatic				ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	p.P197P	NM_152924.4	NP_690888.1	WXS	Illumina GAIIx	Phase_I	P08910	ABHD2_HUMAN			6	1111	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		197					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.591C>A	CCDS10348.1																																																																																				0.522	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			5	164	5	164	---	---	---	---	A	89719095	C	A	89719095	2	1	9	1	0	0	0	0	0	0	0	1	82	610	22	1		1	ABHD2	15	89719095	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3440774	89719095	12812297	703	942										
CRTC3	64784	broad.mit.edu	37	chr15	91169054	91169054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggcctctcacccttcttgGggaccttgaacactggaggg	12	12	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.chr15:91169054G>T	ENST00000268184.6	+	10	800	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	CRTC3_ENST00000420329.2_Missense_Mutation_p.G266W|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	266					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|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)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCTTGGGGACCTTGAA	0.488			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(796-798)Ggg>Tgg		CREB regulated transcription coactivator 3							259	260	260					15																	91169054		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91169054G>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.796G>T	15.37:g.91169054G>T	ENSP00000268184:p.Gly266Trp		Somatic				RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.G266W	p.G266W	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	WXS	Illumina GAIIx	Phase_I	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		10	943	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		266					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.796G>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615538	0.66672	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.47528	0.84;0.84	5.37	4.45	0.53987	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.64867	-0.6306	10	0.72032	D	0.01	-11.1201	12.1726	0.54167	0.0833:0.0:0.9167:0.0	.	266;266	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	W	230;266;266	ENSP00000268184:G266W;ENSP00000416573:G266W	ENSP00000268184:G266W	G	+	1	0	CRTC3	88970058	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.834000	0.75339	1.403000	0.46800	0.655000	0.94253	GGG		0.488	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		10	609	10	609	---	---	---	---	T	91169054	G	T	91169054	3	4	9	1	0	0	0	0	1	0	0	0	3901	1232	43	1	834	1	CRTC3	15	91169054	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1449959	91169054	11362338	704	943										
CRTC3	64784	broad.mit.edu	37	chr15	91172673	91172673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcggcagcctcccgtcagccCtctcacgctttctcctggcc	8	20	3	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.chr15:91172673C>A	ENST00000268184.6	+	11	1179	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CRTC3_ENST00000420329.2_Missense_Mutation_p.P392H|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	392					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|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)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCGTCAGCCCTCTCACGCTT	0.582			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1174-1176)cCt>cAt		CREB regulated transcription coactivator 3							150	153	152					15																	91172673		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172673C>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1175C>A	15.37:g.91172673C>A	ENSP00000268184:p.Pro392His		Somatic				RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P392H	p.P392H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	WXS	Illumina GAIIx	Phase_I	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1322	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		392					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1175C>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111505	0.56398	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.55234	1.78;0.53	5.18	5.18	0.71444	.	0.053328	0.85682	D	0.000000	T	0.71031	0.3292	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73550	-0.3947	10	0.87932	D	0	-20.9754	16.2411	0.82409	0.0:1.0:0.0:0.0	.	392;392	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	H	356;392;392	ENSP00000268184:P392H;ENSP00000416573:P392H	ENSP00000268184:P392H	P	+	2	0	CRTC3	88973677	1.000000	0.71417	0.991000	0.47740	0.007000	0.05969	5.611000	0.67674	2.687000	0.91594	0.655000	0.94253	CCT		0.582	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		6	330	6	330	---	---	---	---	A	91172673	C	A	91172673	3	1	9	1	0	0	0	0	1	0	0	0	3901	681	24	1	1217	1	CRTC3	15	91172673	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3619	91172673	11358719	705	944										
ST8SIA2	8128	broad.mit.edu	37	chr15	92981724	92981724	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacctctacgagctcctcccCaggacttcgccactgaagaa	7	16	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.chr15:92981724C>A	ENST00000268164.3	+	4	669	c.432C>A	c.(430-432)ccC>ccA	p.P144P	ST8SIA2_ENST00000539113.1_Silent_p.P123P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	144					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)			AGCTCCTCCCCAGGACTTCGC	0.537																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(430-432)ccC>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							123	121	122					15																	92981724		2198	4298	6496	SO:0001819	synonymous_variant	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.chr15:92981724C>A	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.432C>A	15.37:g.92981724C>A			Somatic				ST8SIA2_ENST00000539113.1_Silent_p.P123P	p.P144P	NM_006011.3	NP_006002.1	WXS	Illumina GAIIx	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	669	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		144					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.432C>A	CCDS10372.1																																																																																				0.537	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	248	5	248	---	---	---	---	A	92981724	C	A	92981724	2	1	9	1	0	0	0	0	0	0	0	1	15231	581	21	1		1	ST8SIA2	15	92981724	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1809051	92981724	9549668	706	945										
SYNM	23336	broad.mit.edu	37	chr15	99672871	99672871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgctggttcagcggactccCctgagctaggcaagttagca	12	11	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.chr15:99672871C>A	ENST00000336292.6	+	5	4423	c.4303C>A	c.(4303-4305)Cct>Act	p.P1435T	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1436	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						AGCGGACTCCCCTGAGCTAGG	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.(4303-4305)Cct>Act		synemin, intermediate filament protein							188	190	189					15																	99672871		2083	4206	6289	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.chr15:99672871C>A	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.4303C>A	15.37:g.99672871C>A	ENSP00000336775:p.Pro1435Thr		Somatic				SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	p.P1435T	NM_145728.2	NP_663780.2	WXS	Illumina GAIIx	Phase_I	O15061	SYNEM_HUMAN			5	4423	+			1436			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4303C>A		.	.	.	.	.	.	.	.	.	.	C	10.36	1.328382	0.24080	.	.	ENSG00000182253	ENST00000336292	T	0.18338	2.22	5.52	-2.24	0.06909	.	.	.	.	.	T	0.09730	0.0239	.	.	.	0.28816	N	0.897947	P	0.45126	0.851	B	0.33339	0.162	T	0.22208	-1.0223	8	0.72032	D	0.01	.	6.8532	0.24026	0.0:0.3053:0.1299:0.5648	.	1436	O15061	SYNEM_HUMAN	T	1435	ENSP00000336775:P1435T	ENSP00000336775:P1435T	P	+	1	0	SYNM	97490394	0.000000	0.05858	0.066000	0.19879	0.047000	0.14425	0.061000	0.14366	-0.199000	0.10317	-0.140000	0.14226	CCT		0.512	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		7	371	7	371	---	---	---	---	A	99672871	C	A	99672871	3	1	9	1	0	0	0	0	1	0	0	0	15452	623	22	1	4319	1	SYNM	15	99672871	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6691147	99672871	2858521	707	946										
ADAMTS17	170691	broad.mit.edu	37	chr15	100594132	100594132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcggtagtttggttggtccCttggcagagatcttctccca	12	10	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.chr15:100594132C>A	ENST00000268070.4	-	16	2370	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	755	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)		TGGTTGGTCCCTTGGCAGAGA	0.532																																						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.(2263-2265)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							294	280	285					15																	100594132		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100594132C>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.2265G>T	15.37:g.100594132C>A	ENSP00000268070:p.Lys755Asn		Somatic					p.K755N	NM_139057.2	NP_620688.2	WXS	Illumina GAIIx	Phase_I	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	2370	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		755			Spacer.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2265G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017758	0.54576	.	.	ENSG00000140470	ENST00000268070	T	0.52526	0.66	5.9	3.97	0.46021	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.73962	2.25	0.58432	D	0.999997	D	0.63880	0.993	D	0.63113	0.911	T	0.57394	-0.7819	10	0.21540	T	0.41	.	8.6348	0.33941	0.0:0.7001:0.0:0.2999	.	755	Q8TE56	ATS17_HUMAN	N	755	ENSP00000268070:K755N	ENSP00000268070:K755N	K	-	3	2	ADAMTS17	98411655	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.080000	0.41586	0.772000	0.33382	0.655000	0.94253	AAG		0.532	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		8	487	8	487	---	---	---	---	A	100594132	C	A	100594132	3	1	9	1	0	0	0	0	1	0	0	0	262	680	24	1	1050	1	ADAMTS17	15	100594132	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	921261	100594132	1937260	708	947										
MSLN	10232	broad.mit.edu	37	chr16	812728	812728	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggggtcctgtgggaccccCgccctcggcagcctcctgtt	13	16	0	0	rs138683708		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.chr16:812728C>A	ENST00000382862.3	+	2	143	c.48C>A	c.(46-48)ccC>ccA	p.P16P	MSLN_ENST00000563941.1_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000566549.1_Silent_p.P16P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	16				TPAL -> DRP (in Ref. 2; AAC50348). {ECO:0000305}.	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)				GTGGGACCCCCGCCCTCGGCA	0.692																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(46-48)ccC>ccA		mesothelin							86	91	89					16																	812728		2200	4297	6497	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:812728C>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.48C>A	16.37:g.812728C>A			Somatic				MSLN_ENST00000382862.3_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P	p.P16P			WXS	Illumina GAIIx	Phase_I	Q13421	MSLN_HUMAN			2	465	+		Hepatocellular(780;0.00335)	16	TPAL -> DRP (in Ref. 2; AAC50348).				D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.48C>A	CCDS32356.1																																																																																				0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	290	5	290	---	---	---	---	A	812728	C	A	812728	2	1	9	1	0	0	0	0	0	0	0	1	9881	639	23	1		1	MSLN	16	812728	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		812728	89542025	709	948										
EME2	197342	broad.mit.edu	37	chr16	1825078	1825078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgggtgccctggatctccCccgagaccaccgcccggccc	11	20	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.chr16:1825078C>A	ENST00000568449.1	+	4	535	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.P172T|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					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						CTGGATCTCCCCCGAGACCAC	0.657								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(514-516)Ccc>Acc	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							84	95	92					16																	1825078		2199	4299	6498	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825078C>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.514C>A	16.37:g.1825078C>A	ENSP00000457353:p.Pro172Thr		Somatic				EME2_ENST00000568449.1_Missense_Mutation_p.P172T	p.P172T			WXS	Illumina GAIIx	Phase_I	A4GXA9	EME2_HUMAN			4	514	+			172					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.514C>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007053	0.54361	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.93	3.96	0.45880	ERCC4 domain (2);	0.690381	0.12936	N	0.427017	T	0.51719	0.1691	.	.	.	0.09310	N	1	D	0.64830	0.994	D	0.63793	0.918	T	0.39251	-0.9623	8	0.15066	T	0.55	-10.4357	12.1277	0.53926	0.0:0.8266:0.1734:0.0	.	172	A4GXA9	EME2_HUMAN	T	172	.	ENSP00000303779:P172T	P	+	1	0	EME2	1765079	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	0.069000	0.14552	1.041000	0.40125	0.561000	0.74099	CCC		0.657	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		6	290	6	290	---	---	---	---	A	1825078	C	A	1825078	3	1	9	1	0	0	0	0	1	0	0	0	5089	623	22	1	528	1	EME2	16	1825078	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1012350	1825078	88529675	710	949										
SRRM2	23524	broad.mit.edu	37	chr16	2819215	2819215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcgtcttcctccccttccCctgctaagcctggccctcag	7	20	2	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.chr16:2819215C>A	ENST00000301740.8	+	12	8500	c.7951C>A	c.(7951-7953)Cct>Act	p.P2651T	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2651	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						ctccccttccCCTGCTAAGCC	0.587																																						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.(7951-7953)Cct>Act		serine/arginine repetitive matrix 2							100	105	103					16																	2819215		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.chr16:2819215C>A	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.7951C>A	16.37:g.2819215C>A	ENSP00000301740:p.Pro2651Thr		Somatic				SRRM2_ENST00000574593.1_3'UTR	p.P2651T	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			12	8500	+			2651			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7951C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041315	0.35989	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.42900	0.96	5.34	5.34	0.76211	.	0.225938	0.31145	N	0.008165	T	0.50871	0.1641	L	0.32530	0.975	0.33410	D	0.578555	D	0.89917	1.0	D	0.79108	0.992	T	0.54596	-0.8270	10	0.20519	T	0.43	-16.7033	14.5184	0.67835	0.0:1.0:0.0:0.0	.	2651	Q9UQ35	SRRM2_HUMAN	T	2651;2233;1903	ENSP00000301740:P2651T	ENSP00000301740:P2651T	P	+	1	0	SRRM2	2759216	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.638000	0.37165	2.497000	0.84241	0.561000	0.74099	CCT		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	304	6	304	---	---	---	---	A	2819215	C	A	2819215	3	1	9	1	0	0	0	0	1	0	0	0	15168	623	22	1	7993	1	SRRM2	16	2819215	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	994137	2819215	87535538	711	950										
SRRM2	23524	broad.mit.edu	37	chr16	2819272	2819272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagccccaagaagccacccCctggcgagcggaggtgagtg	14	14	0	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.chr16:2819272C>A	ENST00000301740.8	+	12	8557	c.8008C>A	c.(8008-8010)Cct>Act	p.P2670T	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2670	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						GAAGCCACCCCCTGGCGAGCG	0.637																																						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.(8008-8010)Cct>Act		serine/arginine repetitive matrix 2																																				SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819272C>A	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.8008C>A	16.37:g.2819272C>A	ENSP00000301740:p.Pro2670Thr		Somatic				SRRM2_ENST00000574593.1_3'UTR	p.P2670T	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			12	8557	+			2670			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.8008C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032994	0.19590	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.42900	0.96	5.19	5.19	0.71726	.	0.215289	0.33057	N	0.005337	T	0.46502	0.1396	N	0.19112	0.55	0.33165	D	0.547451	D	0.89917	1.0	D	0.79108	0.992	T	0.50092	-0.8868	10	0.18710	T	0.47	-23.3137	14.1959	0.65670	0.0:1.0:0.0:0.0	.	2670	Q9UQ35	SRRM2_HUMAN	T	2670;2252;1922	ENSP00000301740:P2670T	ENSP00000301740:P2670T	P	+	1	0	SRRM2	2759273	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.691000	0.37721	2.416000	0.81992	0.561000	0.74099	CCT		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	309	6	309	---	---	---	---	A	2819272	C	A	2819272	3	1	9	1	0	0	0	0	1	0	0	0	15168	623	22	1	8050	1	SRRM2	16	2819272	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	57	2819272	87535481	712	951										
OR1F1	4992	broad.mit.edu	37	chr16	3254942	3254942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaaggtcccatccacaaaGggaaggtggaaagccttctc	11	11	1	1	rs267604534		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.chr16:3254942G>T	ENST00000304646.2	+	1	696	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	232					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)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCACAAAGGGAAGGTGGA	0.512																																						ENST00000304646.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(694-696)aaG>aaT		olfactory receptor, family 1, subfamily F, member 1							196	172	180					16																	3254942		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254942G>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.696G>T	16.37:g.3254942G>T	ENSP00000305424:p.Lys232Asn		Somatic				AJ003147.9_ENST00000576468.1_RNA	p.K232N	NM_012360.1	NP_036492.1	WXS	Illumina GAIIx	Phase_I	O43749	OR1F1_HUMAN			1	696	+			232					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.696G>T	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	8.415	0.845088	0.16963	.	.	ENSG00000168124	ENST00000304646	T	0.00145	8.67	5.06	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.898765	0.09495	N	0.794393	T	0.00210	0.0006	L	0.45285	1.41	0.21878	N	0.999497	P	0.38863	0.65	B	0.43155	0.41	T	0.46569	-0.9182	10	0.51188	T	0.08	.	9.6799	0.40063	0.1781:0.0:0.8219:0.0	.	232	O43749	OR1F1_HUMAN	N	232	ENSP00000305424:K232N	ENSP00000305424:K232N	K	+	3	2	OR1F1	3194943	0.665000	0.27466	0.334000	0.25495	0.308000	0.27856	0.581000	0.23819	1.118000	0.41863	0.393000	0.25936	AAG		0.512	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			8	306	8	306	---	---	---	---	T	3254942	G	T	3254942	3	4	9	1	0	0	0	0	1	0	0	0	10956	991	35	1	698	1	OR1F1	16	3254942	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	435670	3254942	87099811	713	952										
MGRN1	23295	broad.mit.edu	37	chr16	4714730	4714730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaactttgacctggaccgGggcgtgtttccagtagtcat	12	10	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.chr16:4714730G>T	ENST00000399577.5	+	6	675	c.582G>T	c.(580-582)cgG>cgT	p.R194R	MGRN1_ENST00000588994.1_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	194					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGGACCGGGGCGTGTTTC	0.597																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(580-582)cgG>cgT		mahogunin ring finger 1, E3 ubiquitin protein ligase							125	128	127					16																	4714730		2154	4247	6401	SO:0001819	synonymous_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4714730G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.582G>T	16.37:g.4714730G>T			Somatic				MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000588994.1_Silent_p.R194R	p.R194R	NM_001142290.2	NP_001135762.1	WXS	Illumina GAIIx	Phase_I	O60291	MGRN1_HUMAN			6	675	+			194					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.582G>T	CCDS45402.1																																																																																				0.597	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			5	164	5	164	---	---	---	---	T	4714730	G	T	4714730	2	4	9	1	0	0	0	0	0	0	0	1	9559	1219	43	1		1	MGRN1	16	4714730	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1459788	4714730	85640023	714	953										
MKL2	57496	broad.mit.edu	37	chr16	14234515	14234515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaagtgggacctttagccCatcttgctccaagtcctcag	9	12	2	1	rs139420323		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.chr16:14234515C>A	ENST00000574045.1	+	3	207	c.52C>A	c.(52-54)Cat>Aat	p.H18N	MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.H18N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					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						ACCTTTAGCCCATCTTGCTCC	0.507																																						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.(52-54)Cat>Aat		MKL/myocardin-like 2							158	128	138					16																	14234515		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.chr16:14234515C>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	ENST00000574045.1:c.52C>A	16.37:g.14234515C>A	ENSP00000459205:p.His18Asn		Somatic				MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.H18N	p.H18N	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			3	224	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.52C>A	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334617	0.41297	.	.	ENSG00000186260	ENST00000318282	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	T	0.33206	0.0855	N	0.19112	0.55	0.80722	D	1	B;P	0.36535	0.421;0.557	B;B	0.30495	0.054;0.116	T	0.15037	-1.0451	8	0.21014	T	0.42	.	12.3267	0.55015	0.169:0.831:0.0:0.0	.	18;18	B4DGT8;Q9ULH7-4	.;.	N	18	.	ENSP00000339086:H18N	H	+	1	0	MKL2	14142016	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	1.801000	0.38843	2.400000	0.81607	0.650000	0.86243	CAT		0.507	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		5	179	5	179	---	---	---	---	A	14234515	C	A	14234515	3	1	9	1	0	0	0	0	1	0	0	0	9602	594	21	1	54	1	MKL2	16	14234515	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9519785	14234515	76120238	715	954										
KIAA0430	9665	broad.mit.edu	37	chr16	15719561	15719561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgatactcagcactttccCaccacaattatcggacaggc	7	13	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.chr16:15719561C>A	ENST00000396368.3	-	8	1827	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000540441.2_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	541					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						AGCACTTTCCCACCACAATTA	0.483																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(1621-1623)Ggg>Tgg		KIAA0430							111	107	108					16																	15719561		1941	4145	6086	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15719561C>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.1621G>T	16.37:g.15719561C>A	ENSP00000379654:p.Gly541Trp		Somatic				KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W	p.G541W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	WXS	Illumina GAIIx	Phase_I	Q9Y4F3	LKAP_HUMAN			8	1827	-			540					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.1621G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739236	0.89573	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	M	0.75264	2.295	0.46631	D	0.999139	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84095	0.0392	9	0.87932	D	0	.	19.6506	0.95805	0.0:1.0:0.0:0.0	.	539;538;537	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	W	541;540;363;538;540;541	.	ENSP00000315718:G540W	G	-	1	0	KIAA0430	15627062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.076000	0.76806	2.640000	0.89533	0.591000	0.81541	GGG		0.483	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	242	7	242	---	---	---	---	A	15719561	C	A	15719561	3	1	9	1	0	0	0	0	1	0	0	0	8177	594	21	1	3690	1	KIAA0430	16	15719561	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1485046	15719561	74635192	716	955										
SMG1	23049	broad.mit.edu	37	chr16	18844357	18844357	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattccactagagtctgcagGggaacgccatcggtggtctg	14	10	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.chr16:18844357G>T	ENST00000446231.2	-	51	9109	c.8697C>A	c.(8695-8697)ccC>ccA	p.P2899P	SMG1_ENST00000389467.3_Silent_p.P2899P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2899			P -> A. {ECO:0000269|PubMed:17344846}.		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						GAGTCTGCAGGGGAACGCCAT	0.468																																						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.(8695-8697)ccC>ccA		SMG1 phosphatidylinositol 3-kinase-related kinase							236	227	230					16																	18844357		1944	4142	6086	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.chr16:18844357G>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.8697C>A	16.37:g.18844357G>T			Somatic				SMG1_ENST00000389467.3_Silent_p.P2899P	p.P2899P			WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			51	9109	-			2899		P -> A.			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8697C>A	CCDS45430.1																																																																																				0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		10	501	10	501	---	---	---	---	T	18844357	G	T	18844357	2	4	9	1	0	0	0	0	0	0	0	1	14795	1219	43	1		1	SMG1	16	18844357	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3124796	18844357	71510396	717	956										
ACSM5	54988	broad.mit.edu	37	chr16	20448426	20448426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggggacttttacatcacagGggaccgagctcgcatggaca	13	10	1	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.chr16:20448426G>T	ENST00000331849.4	+	11	1508	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					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						TACATCACAGGGGACCGAGCT	0.488																																						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.(1360-1362)gGg>gTg		acyl-CoA synthetase medium-chain family member 5							162	151	155					16																	20448426		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.chr16:20448426G>T		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.1361G>T	16.37:g.20448426G>T	ENSP00000327916:p.Gly454Val		Somatic					p.G454V	NM_017888.2	NP_060358.2	WXS	Illumina GAIIx	Phase_I	Q6NUN0	ACSM5_HUMAN			11	1508	+			454					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1361G>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352006	0.82132	.	.	ENSG00000183549	ENST00000331849	D	0.83591	-1.74	5.15	5.15	0.70609	AMP-dependent synthetase/ligase (1);	0.098188	0.44902	D	0.000405	D	0.94571	0.8251	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96377	0.9278	10	0.87932	D	0	-27.4661	17.755	0.88446	0.0:0.0:1.0:0.0	.	454	Q6NUN0	ACSM5_HUMAN	V	454	ENSP00000327916:G454V	ENSP00000327916:G454V	G	+	2	0	ACSM5	20355927	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	8.028000	0.88798	2.563000	0.86464	0.650000	0.86243	GGG		0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		8	327	8	327	---	---	---	---	T	20448426	G	T	20448426	3	4	9	1	0	0	0	0	1	0	0	0	187	1232	43	1	1399	1	ACSM5	16	20448426	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1604069	20448426	69906327	718	957										
ACSM3	6296	broad.mit.edu	37	chr16	20803376	20803376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcaatttctatatcactgGggacagaggatatatggata	11	5	2	1	rs140665877	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.chr16:20803376G>T	ENST00000289416.5	+	11	1854	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	460					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.G460V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TATATCACTGGGGACAGAGGA	0.373																																						ENST00000289416.5																			1	Substitution - Missense(1)	p.G460V(1)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1378-1380)gGg>gTg		acyl-CoA synthetase medium-chain family member 3							161	159	160					16																	20803376		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20803376G>T	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.1379G>T	16.37:g.20803376G>T	ENSP00000289416:p.Gly460Val		Somatic				ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V	p.G460V	NM_005622.3	NP_005613.2	WXS	Illumina GAIIx	Phase_I	Q53FZ2	ACSM3_HUMAN			11	1854	+			460					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1379G>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420207	0.83559	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	D;D	0.83591	-1.74;-1.74	5.59	5.59	0.84812	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96596	0.9441	10	0.87932	D	0	-0.0688	19.6055	0.95580	0.0:0.0:1.0:0.0	.	452;460	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	V	460;452	ENSP00000289416:G460V;ENSP00000395297:G452V	ENSP00000289416:G460V	G	+	2	0	ACSM3	20710877	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	8.099000	0.89542	2.631000	0.89168	0.650000	0.86243	GGG		0.373	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		7	378	7	378	---	---	---	---	T	20803376	G	T	20803376	3	4	9	1	0	0	0	0	1	0	0	0	185	1232	43	1	1510	1	ACSM3	16	20803376	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	354950	20803376	69551377	719	958										
DNAH3	55567	broad.mit.edu	37	chr16	21147786	21147786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcacttcaccctcctcagGggcaatcatgtctttgcgaa	7	14	5	0	rs140282790		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.chr16:21147786G>T	ENST00000261383.3	-	6	744	c.745C>A	c.(745-747)Cct>Act	p.P249T	DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	249	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)		CCCTCCTCAGGGGCAATCATG	0.478																																						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.(745-747)Cct>Act		dynein, axonemal, heavy chain 3							188	175	179					16																	21147786		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.chr16:21147786G>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.745C>A	16.37:g.21147786G>T	ENSP00000261383:p.Pro249Thr		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	p.P249T	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	744	-			249			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.745C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074866	0.20227	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.26373	1.74;1.88	5.77	2.71	0.32032	.	0.308702	0.29822	N	0.011120	T	0.33469	0.0864	M	0.68317	2.08	0.30048	N	0.812029	D;D	0.58268	0.961;0.982	P;P	0.51516	0.522;0.672	T	0.24799	-1.0150	10	0.41790	T	0.15	.	8.1127	0.30924	0.1458:0.1314:0.7228:0.0	.	249;220	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	249;249;220	ENSP00000261383:P249T;ENSP00000394245:P249T	ENSP00000261383:P249T	P	-	1	0	DNAH3	21055287	1.000000	0.71417	0.226000	0.23910	0.327000	0.28475	2.081000	0.41596	0.341000	0.23771	-0.150000	0.13652	CCT		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	351	7	351	---	---	---	---	T	21147786	G	T	21147786	3	4	9	1	0	0	0	0	1	0	0	0	4603	1232	43	1	11832	1	DNAH3	16	21147786	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	344410	21147786	69206967	720	959										
PDZD9	255762	broad.mit.edu	37	chr16	21995621	21995621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gataccagttgggctttaccCtcttcaacttgggcacaatc	8	12	2	0	rs545750834		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.chr16:21995621C>A	ENST00000424898.2	-	4	824	c.762G>T	c.(760-762)gaG>gaT	p.E254D	PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D|PDZD9_ENST00000286143.6_Missense_Mutation_p.E192D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	254										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GGGCTTTACCCTCTTCAACTT	0.453																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(574-576)gaG>gaT		PDZ domain containing 9							293	300	298					16																	21995621		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995621C>A	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.762G>T	16.37:g.21995621C>A	ENSP00000400514:p.Glu254Asp		Somatic				PDZD9_ENST00000424898.2_Missense_Mutation_p.E254D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D	p.E192D			WXS	Illumina GAIIx	Phase_I	Q8IXQ8	PDZD9_HUMAN			5	897	-			254					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.576G>T		.	.	.	.	.	.	.	.	.	.	C	12.28	1.891874	0.33442	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.47528	0.84	5.67	4.7	0.59300	.	0.598876	0.16006	N	0.234058	T	0.38931	0.1059	L	0.34521	1.04	0.25222	N	0.98989	B	0.18310	0.027	B	0.21917	0.037	T	0.32903	-0.9889	10	0.51188	T	0.08	-1.1026	11.7176	0.51663	0.1766:0.8234:0.0:0.0	.	192	Q8IXQ8-2	.	D	254;194;192	ENSP00000400514:E254D	ENSP00000286143:E192D	E	-	3	2	PDZD9	21903122	0.133000	0.22466	0.474000	0.27266	0.448000	0.32197	1.476000	0.35420	1.336000	0.45506	0.563000	0.77884	GAG		0.453	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		14	1392	14	1392	---	---	---	---	A	21995621	C	A	21995621	3	1	9	1	0	0	0	0	1	0	0	0	11706	680	24	1	36	1	PDZD9	16	21995621	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	847835	21995621	68359132	721	960										
GGA2	23062	broad.mit.edu	37	chr16	23498080	23498080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcagcctgaaggtcctcgGggtggttgctctttagaagc	14	9	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.chr16:23498080G>T	ENST00000309859.4	-	7	693	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	204	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.P204H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGGTCCTCGGGGTGGTTGCT	0.507																																						ENST00000309859.4																			1	Substitution - Missense(1)	p.P204H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(610-612)cCc>cAc		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							231	222	225					16																	23498080		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23498080G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.611C>A	16.37:g.23498080G>T	ENSP00000311962:p.Pro204His		Somatic				GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	p.P204H	NM_015044.4	NP_055859.1	WXS	Illumina GAIIx	Phase_I	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	7	693	-			204			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.611C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136833	0.94517	.	.	ENSG00000103365	ENST00000309859	T	0.74315	-0.83	6.07	6.07	0.98685	GAT (1);	0.115043	0.64402	D	0.000011	D	0.87629	0.6225	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88160	0.2857	10	0.72032	D	0.01	-17.5255	18.1377	0.89624	0.0:0.0:1.0:0.0	.	204	Q9UJY4	GGA2_HUMAN	H	204	ENSP00000311962:P204H	ENSP00000311962:P204H	P	-	2	0	GGA2	23405581	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	9.307000	0.96226	2.890000	0.99128	0.650000	0.86243	CCC		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			8	544	8	544	---	---	---	---	T	23498080	G	T	23498080	3	4	9	1	0	0	0	0	1	0	0	0	6353	1232	43	1	1274	1	GGA2	16	23498080	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1502459	23498080	66856673	722	961										
PRKCB	5579	broad.mit.edu	37	chr16	24104145	24104145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaccttgtacctatggaccCcaatggcctgtcagatccct	7	14	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.chr16:24104145C>A	ENST00000321728.7	+	6	738	c.563C>A	c.(562-564)cCc>cAc	p.P188H	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.P188H	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	188	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)	CCTATGGACCCCAATGGCCTG	0.423																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(562-564)cCc>cAc		protein kinase C, beta	Vitamin E(DB00163)						164	144	151					16																	24104145		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.chr16:24104145C>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.563C>A	16.37:g.24104145C>A	ENSP00000318315:p.Pro188His		Somatic				PRKCB_ENST00000321728.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR	p.P188H	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			6	715	+			188			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.563C>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833060	0.91036	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.69926	-0.44;-0.44	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.985;0.991	T	0.82159	-0.0595	10	0.87932	D	0	.	18.0382	0.89311	0.0:1.0:0.0:0.0	.	188;188	P05771-2;P05771	.;KPCB_HUMAN	H	188	ENSP00000318315:P188H;ENSP00000305355:P188H	ENSP00000305355:P188H	P	+	2	0	PRKCB	24011646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.374000	0.79633	2.577000	0.86979	0.555000	0.69702	CCC		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		6	350	6	350	---	---	---	---	A	24104145	C	A	24104145	3	1	9	1	0	0	0	0	1	0	0	0	12508	623	22	1	585	1	PRKCB	16	24104145	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	606065	24104145	66250608	723	962										
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258052	25258052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagattctgaaacaagacagGggcaccatggatttcagact	11	8	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.chr16:25258052G>T	ENST00000328086.7	-	5	2268	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	489					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)		AACAAGACAGGGGCACCATGG	0.443																																						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.(1465-1467)Cct>Act		zinc finger with KRAB and SCAN domains 2							126	123	124					16																	25258052		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258052G>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.1465C>A	16.37:g.25258052G>T	ENSP00000331626:p.Pro489Thr		Somatic					p.P489T	NM_001012981.4	NP_001012999.3	WXS	Illumina GAIIx	Phase_I	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	2268	-			489					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1465C>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991242	0.74703	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08102	3.13	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	T	0.27731	0.0682	M	0.68952	2.095	0.41829	D	0.990065	D;P;D	0.89917	1.0;0.865;1.0	D;P;D	0.83275	0.996;0.521;0.996	T	0.00145	-1.1993	10	0.59425	D	0.04	-17.8063	15.4129	0.74941	0.0:0.0:1.0:0.0	.	285;489;489	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	T	489	ENSP00000331626:P489T	ENSP00000331626:P489T	P	-	1	0	ZKSCAN2	25165553	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.333000	0.52090	2.780000	0.95670	0.655000	0.94253	CCT		0.443	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		7	396	7	396	---	---	---	---	T	25258052	G	T	25258052	3	4	9	1	0	0	0	0	1	0	0	0	17684	1232	43	1	1450	1	ZKSCAN2	16	25258052	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1153907	25258052	65096701	724	963										
CCDC101	112869	broad.mit.edu	37	chr16	28602973	28602973	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagatggctattcccctccCctcaatgtggctcagagata	9	13	2	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.chr16:28602973C>A	ENST00000317058.3	+	10	1015	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	276	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				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						ATTCCCCTCCCCTCAATGTGG	0.582																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(826-828)ccC>ccA		coiled-coil domain containing 101							140	124	130					16																	28602973		2197	4300	6497	SO:0001819	synonymous_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.chr16:28602973C>A	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.828C>A	16.37:g.28602973C>A			Somatic					p.P276P	NM_138414.2	NP_612423.1	WXS	Illumina GAIIx	Phase_I	Q96ES7	SGF29_HUMAN			10	1015	+			276			SGF29 C-terminal.		Q96MF5	Silent	SNP	ENST00000317058.3	37	c.828C>A	CCDS10635.1																																																																																				0.582	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		7	210	7	210	---	---	---	---	A	28602973	C	A	28602973	2	1	9	1	0	0	0	0	0	0	0	1	2735	610	22	1		1	CCDC101	16	28602973	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3344921	28602973	61751780	725	964										
NFATC2IP	84901	broad.mit.edu	37	chr16	28965930	28965930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctctaccatgagggctccCcatcaccaggctctccctgg	9	17	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.chr16:28965930C>A	ENST00000320805.4	+	3	580	c.505C>A	c.(505-507)Cca>Aca	p.P169T	NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000562977.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	169					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TGAGGGCTCCCCATCACCAGG	0.562																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(505-507)Cca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							106	106	106					16																	28965930		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28965930C>A	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.505C>A	16.37:g.28965930C>A	ENSP00000324792:p.Pro169Thr		Somatic				NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	p.P169T	NM_032815.3	NP_116204.3	WXS	Illumina GAIIx	Phase_I	Q8NCF5	NF2IP_HUMAN			3	580	+			169					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.505C>A	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	6.559	0.471424	0.12461	.	.	ENSG00000176953	ENST00000320805	T	0.17691	2.26	4.35	0.24	0.15489	.	1.559630	0.03874	N	0.276120	T	0.16896	0.0406	L	0.51422	1.61	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.32161	-0.9917	10	0.59425	D	0.04	0.6123	6.191	0.20524	0.0:0.5656:0.0:0.4344	.	169	Q8NCF5	NF2IP_HUMAN	T	169	ENSP00000324792:P169T	ENSP00000324792:P169T	P	+	1	0	NFATC2IP	28873431	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.282000	0.08445	0.214000	0.20742	0.561000	0.74099	CCA		0.562	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		6	367	6	367	---	---	---	---	A	28965930	C	A	28965930	3	1	9	1	0	0	0	0	1	0	0	0	10363	623	22	1	515	1	NFATC2IP	16	28965930	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	362957	28965930	61388823	726	965										
CORO1A	11151	broad.mit.edu	37	chr16	30197992	30197992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctagacatcgcctggtgccCgcacaatgacaacgtcattg	10	13	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.chr16:30197992C>A	ENST00000219150.5	+	3	577	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	91					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						GCCTGGTGCCCGCACAATGAC	0.617																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(271-273)cCg>cAg		coronin, actin binding protein, 1A							62	46	52					16																	30197992		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.chr16:30197992C>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.272C>A	16.37:g.30197992C>A	ENSP00000219150:p.Pro91Gln		Somatic				CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q	p.P91Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	WXS	Illumina GAIIx	Phase_I	P31146	COR1A_HUMAN			3	577	+			91					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.272C>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.908142	0.92107	.	.	ENSG00000102879	ENST00000219150	T	0.69926	-0.44	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.117152	0.64402	D	0.000017	D	0.82797	0.5115	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.995;0.956	D	0.84579	0.0660	10	0.87932	D	0	-10.8743	18.2757	0.90083	0.0:1.0:0.0:0.0	.	91;125;91	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	Q	91	ENSP00000219150:P91Q	ENSP00000219150:P91Q	P	+	2	0	CORO1A	30105493	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.725000	0.84808	2.632000	0.89209	0.655000	0.94253	CCG		0.617	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		3	39	3	39	---	---	---	---	A	30197992	C	A	30197992	3	1	9	1	0	0	0	0	1	0	0	0	3753	652	23	1	278	1	CORO1A	16	30197992	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1232062	30197992	60156761	727	966										
ZNF688	146542	broad.mit.edu	37	chr16	30581354	30581354	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctccggccccgccgcccCccggagcaggagcggtggat	16	18	0	0	rs370332443		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.chr16:30581354C>A	ENST00000223459.6	-	3	1818	c.714G>T	c.(712-714)ggG>ggT	p.G238G	AC002310.7_ENST00000486926.1_RNA|ZNF688_ENST00000395219.1_Silent_p.G224G|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	238					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						CCCGCCGCCCCCCGGAGCAGG	0.706																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(712-714)ggG>ggT		zinc finger protein 688							10	13	12					16																	30581354		2161	4248	6409	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581354C>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.714G>T	16.37:g.30581354C>A			Somatic				ZNF688_ENST00000395219.1_Silent_p.G224G	p.G238G	NM_145271.3	NP_660314.1	WXS	Illumina GAIIx	Phase_I	P0C7X2	ZN688_HUMAN			3	1818	-			238					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.714G>T	CCDS10684.1																																																																																				0.706	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		4	32	4	32	---	---	---	---	A	30581354	C	A	30581354	2	1	9	1	0	0	0	0	0	0	0	1	18090	610	22	1		1	ZNF688	16	30581354	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	383362	30581354	59773399	728	967										
ZNF629	23361	broad.mit.edu	37	chr16	30793264	30793264	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggggtcctcgggattgggGggtttttcctgggtgtgggt	22	5	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.chr16:30793264G>T	ENST00000262525.4	-	3	2592	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	795					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)			CGGGATTGGGGGGTTTTTCCT	0.662																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2383-2385)ccC>ccA		zinc finger protein 629							81	96	91					16																	30793264		1908	4112	6020	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793264G>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.2385C>A	16.37:g.30793264G>T			Somatic					p.P795P	NM_001080417.1	NP_001073886.1	WXS	Illumina GAIIx	Phase_I	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2592	-			795					Q15938	Silent	SNP	ENST00000262525.4	37	c.2385C>A	CCDS45463.1																																																																																				0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		9	296	9	296	---	---	---	---	T	30793264	G	T	30793264	2	4	9	1	0	0	0	0	0	0	0	1	18050	1219	43	1		1	ZNF629	16	30793264	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	211910	30793264	59561489	729	968										
ZNF668	79759	broad.mit.edu	37	chr16	31072440	31072440	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagccaccaggggctccagGggtgtgggggtccccatggg	18	11	0	0	rs565573735	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.chr16:31072440G>T	ENST00000538906.1	-	3	2593	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000426488.2_Silent_p.P626P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	603					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						GGGGCTCCAGGGGTGTGGGGG	0.672																																					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.(1807-1809)ccC>ccA		zinc finger protein 668							35	43	40					16																	31072440		2192	4296	6488	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072440G>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.1809C>A	16.37:g.31072440G>T			Somatic				ZNF668_ENST00000426488.2_Silent_p.P626P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P	p.P603P	NM_001172668.1	NP_001166139	WXS	Illumina GAIIx	Phase_I	Q96K58	ZN668_HUMAN			3	2593	-			603					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1809C>A	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	153	5	153	---	---	---	---	T	31072440	G	T	31072440	2	4	9	1	0	0	0	0	0	0	0	1	18072	1219	43	1		1	ZNF668	16	31072440	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	279176	31072440	59282313	730	969										
ITGAX	3687	broad.mit.edu	37	chr16	31373412	31373412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggatggccccgttctggGggctgtggggagcttcacct	16	12	2	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.chr16:31373412G>T	ENST00000268296.4	+	11	1224	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	368					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						CCCGTTCTGGGGGCTGTGGGG	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.(1102-1104)gGg>gTg		integrin, alpha X (complement component 3 receptor 4 subunit)							93	97	95					16																	31373412		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.chr16:31373412G>T	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.1103G>T	16.37:g.31373412G>T	ENSP00000268296:p.Gly368Val		Somatic				ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	p.G368V	NM_000887.3	NP_000878.2	WXS	Illumina GAIIx	Phase_I	P20702	ITAX_HUMAN			11	1224	+			368					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1103G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305998	0.60305	.	.	ENSG00000140678	ENST00000268296	T	0.78126	-1.15	4.5	3.54	0.40534	.	.	.	.	.	D	0.91385	0.7282	H	0.98133	4.155	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.92081	0.5672	9	0.87932	D	0	.	9.9809	0.41813	0.0985:0.0:0.9015:0.0	.	368	P20702	ITAX_HUMAN	V	368	ENSP00000268296:G368V	ENSP00000268296:G368V	G	+	2	0	ITGAX	31280913	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.009000	0.57110	1.023000	0.39654	0.580000	0.79431	GGG		0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		7	333	7	333	---	---	---	---	T	31373412	G	T	31373412	3	4	9	1	0	0	0	0	1	0	0	0	7889	1232	43	1	1145	1	ITGAX	16	31373412	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	300972	31373412	58981341	731	970										
SHCBP1	79801	broad.mit.edu	37	chr16	46638210	46638210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccgaatacaattttaaccCttccaccatggagatatttt	4	11	0	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.chr16:46638210C>A	ENST00000303383.3	-	6	1119	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	285					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)				AATTTTAACCCTTCCACCATG	0.363																																						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.(853-855)Ggg>Tgg		SHC SH2-domain binding protein 1							110	110	110					16																	46638210		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46638210C>A	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.853G>T	16.37:g.46638210C>A	ENSP00000306473:p.Gly285Trp		Somatic					p.G285W	NM_024745.4	NP_079021	WXS	Illumina GAIIx	Phase_I	Q8NEM2	SHCBP_HUMAN			6	1119	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	285					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.853G>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108641	0.77096	.	.	ENSG00000171241	ENST00000303383	T	0.25085	1.82	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53774	-0.8391	10	0.66056	D	0.02	-17.2509	16.6169	0.84918	0.0:1.0:0.0:0.0	.	285	Q8NEM2	SHCBP_HUMAN	W	285	ENSP00000306473:G285W	ENSP00000306473:G285W	G	-	1	0	SHCBP1	45195711	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.696000	0.74598	2.209000	0.71365	0.460000	0.39030	GGG		0.363	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		6	323	6	323	---	---	---	---	A	46638210	C	A	46638210	3	1	9	1	0	0	0	0	1	0	0	0	14274	681	24	1	1197	1	SHCBP1	16	46638210	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	15264798	46638210	43716543	732	971										
SHCBP1	79801	broad.mit.edu	37	chr16	46649932	46649932	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accacccacagctcctgcagGggcaaccgatgctccttcag	9	17	1	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.chr16:46649932G>T	ENST00000303383.3	-	4	788	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	174					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)				GCTCCTGCAGGGGCAACCGAT	0.483																																						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.(520-522)ccC>ccA		SHC SH2-domain binding protein 1							118	117	117					16																	46649932		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46649932G>T	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.522C>A	16.37:g.46649932G>T			Somatic					p.P174P	NM_024745.4	NP_079021	WXS	Illumina GAIIx	Phase_I	Q8NEM2	SHCBP_HUMAN			4	788	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	174					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.522C>A	CCDS10720.1																																																																																				0.483	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		6	240	6	240	---	---	---	---	T	46649932	G	T	46649932	2	4	9	1	0	0	0	0	0	0	0	1	14274	1219	43	1		1	SHCBP1	16	46649932	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	11722	46649932	43704821	733	972										
PAPD5	64282	broad.mit.edu	37	chr16	50250028	50250028	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaagtgggagaacctaccCctctggactctggaagaagc	14	10	2	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.chr16:50250028C>A	ENST00000561678.1	+	4	680	c.606C>A	c.(604-606)ccC>ccA	p.P202P	PAPD5_ENST00000436909.3_Silent_p.P269P|PAPD5_ENST00000357464.3_Silent_p.P190P|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	190					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAACCTACCCCTCTGGACTC	0.438																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(568-570)ccC>ccA		PAP associated domain containing 5							160	155	156					16																	50250028		1881	4115	5996	SO:0001819	synonymous_variant	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50250028C>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.606C>A	16.37:g.50250028C>A			Somatic				PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Silent_p.P202P|PAPD5_ENST00000436909.3_Silent_p.P269P	p.P190P			WXS	Illumina GAIIx	Phase_I	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	5	570	+		all_cancers(37;0.0452)	190					B4DV38|Q9NW67|Q9Y6C0	Silent	SNP	ENST00000561678.1	37	c.570C>A																																																																																					0.438	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		5	186	5	186	---	---	---	---	A	50250028	C	A	50250028	2	1	9	1	0	0	0	0	0	0	0	1	11425	610	22	1		1	PAPD5	16	50250028	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3600096	50250028	40104725	734	973										
SALL1	6299	broad.mit.edu	37	chr16	51174722	51174722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatggcctctctccggtatGggaacgcaagtggatctgca	13	10	2	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.chr16:51174722G>T	ENST00000251020.4	-	2	1444	c.1411C>A	c.(1411-1413)Cat>Aat	p.H471N	SALL1_ENST00000440970.1_Missense_Mutation_p.H374N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	471					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)			TCTCCGGTATGGGAACGCAAG	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.(1120-1122)Cat>Aat		spalt-like transcription factor 1							98	93	95					16																	51174722		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.chr16:51174722G>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.1411C>A	16.37:g.51174722G>T	ENSP00000251020:p.His471Asn		Somatic				SALL1_ENST00000251020.4_Missense_Mutation_p.H471N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.H374N	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1551	-		all_cancers(37;0.0322)	471			Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1120C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554663	0.65425	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.67345	-0.26;-0.26	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	D	0.86364	0.5915	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89724	0.3921	10	0.72032	D	0.01	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	471	Q9NSC2	SALL1_HUMAN	N	471;374;435	ENSP00000251020:H471N;ENSP00000407914:H374N	ENSP00000251020:H471N	H	-	1	0	SALL1	49732223	1.000000	0.71417	0.995000	0.50966	0.859000	0.49053	9.864000	0.99589	2.386000	0.81285	0.563000	0.77884	CAT		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	116	4	116	---	---	---	---	T	51174722	G	T	51174722	3	4	9	1	0	0	0	0	1	0	0	0	13810	1348	47	1	2571	1	SALL1	16	51174722	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	924694	51174722	39180031	735	974										
PLCG2	5336	broad.mit.edu	37	chr16	81942029	81942029	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgcggcccaggatataccCcctacagaactacattttgg	8	12	0	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.chr16:81942029C>A	ENST00000359376.3	+	17	1780	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	522					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						AGGATATACCCCCTACAGAAC	0.542																																						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.(1564-1566)ccC>ccA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							56	56	56					16																	81942029		1899	4109	6008	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.chr16:81942029C>A		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.1566C>A	16.37:g.81942029C>A			Somatic					p.P522P	NM_002661.3	NP_002652.2	WXS	Illumina GAIIx	Phase_I	P16885	PLCG2_HUMAN			17	1780	+			522					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1566C>A	CCDS42204.1																																																																																				0.542	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			4	87	4	87	---	---	---	---	A	81942029	C	A	81942029	2	1	9	1	0	0	0	0	0	0	0	1	12036	610	22	1		1	PLCG2	16	81942029	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	30767307	81942029	8412724	736	975										
ZCCHC14	23174	broad.mit.edu	37	chr16	87451234	87451234	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtaggccagggctgagccCgcgctgcccgcatgggagca	17	14	0	1	rs374632777		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.chr16:87451234C>A	ENST00000268616.4	-	8	1021	c.804G>T	c.(802-804)gcG>gcT	p.A268A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	268							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)		GGGCTGAGCCCGCGCTGCCCG	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.(802-804)gcG>gcT		zinc finger, CCHC domain containing 14							94	106	102					16																	87451234		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451234C>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.804G>T	16.37:g.87451234C>A			Somatic					p.A268A	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1021	-			268					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.804G>T	CCDS10961.1																																																																																				0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	174	4	174	---	---	---	---	A	87451234	C	A	87451234	2	1	9	1	0	0	0	0	0	0	0	1	17580	639	23	1		1	ZCCHC14	16	87451234	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5509205	87451234	2903519	737	976										
FAM57A	79850	broad.mit.edu	37	chr17	641201	641201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accagaaccgtgcgccctccCtcactcttcgaaacttccta	5	18	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.chr17:641201C>A	ENST00000308278.8	+	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	108	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGCGCCCTCCCTCACTCTTCG	0.507																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(322-324)Ctc>Atc		family with sequence similarity 57, member A							197	169	179					17																	641201		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641201C>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.322C>A	17.37:g.641201C>A	ENSP00000312017:p.Leu108Ile		Somatic				FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I	p.L108I	NM_024792.1	NP_079068.1	WXS	Illumina GAIIx	Phase_I	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	558	+			108			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.322C>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110316	0.08780	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	-1.27	0.09347	TRAM/LAG1/CLN8 homology domain (3);	5.953300	0.00972	U	0.003240	T	0.35364	0.0929	L	0.53729	1.69	0.09310	N	1	B;B	0.32653	0.328;0.379	B;B	0.30646	0.113;0.118	T	0.05616	-1.0874	9	0.22706	T	0.39	-0.0821	4.653	0.12605	0.1308:0.5673:0.0885:0.2135	.	108;108	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	I	108;108;181	.	ENSP00000301324:L108I	L	+	1	0	FAM57A	587951	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.008000	0.12788	-0.486000	0.06744	-1.038000	0.02383	CTC		0.507	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		6	259	6	259	---	---	---	---	A	641201	C	A	641201	3	1	9	1	0	0	0	0	1	0	0	0	5588	681	24	1	332	1	FAM57A	17	641201	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		641201	80554009	738	977										
FAM57A	79850	broad.mit.edu	37	chr17	644626	644626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgccggatccttctcttccCcttcatgtactggtcctatg	7	15	2	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.chr17:644626C>A	ENST00000308278.8	+	5	826	c.590C>A	c.(589-591)cCc>cAc	p.P197H	FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	197	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTTCTCTTCCCCTTCATGTAC	0.542																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(589-591)cCc>cAc		family with sequence similarity 57, member A							147	124	132					17																	644626		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:644626C>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.590C>A	17.37:g.644626C>A	ENSP00000312017:p.Pro197His		Somatic				FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	p.P197H	NM_024792.1	NP_079068.1	WXS	Illumina GAIIx	Phase_I	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	5	826	+			197			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.590C>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532065	0.85812	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.88818	-2.43;-2.43	5.96	5.0	0.66597	TRAM/LAG1/CLN8 homology domain (3);	0.047897	0.85682	D	0.000000	D	0.95001	0.8382	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	D	0.95720	0.8765	10	0.87932	D	0	-19.4152	14.2847	0.66238	0.0:0.9293:0.0:0.0707	.	165;197	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	H	197;165;270	ENSP00000312017:P197H;ENSP00000301324:P165H	ENSP00000301324:P165H	P	+	2	0	FAM57A	591376	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.020000	0.70826	1.533000	0.49186	0.655000	0.94253	CCC		0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		5	139	5	139	---	---	---	---	A	644626	C	A	644626	3	1	9	1	0	0	0	0	1	0	0	0	5588	623	22	1	608	1	FAM57A	17	644626	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3425	644626	80550584	739	978										
OR1D2	4991	broad.mit.edu	37	chr17	2996055	2996055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaggttcaccagcatcttgGggattgtgttggtgacaaag	15	6	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.chr17:2996055G>T	ENST00000331459.1	-	1	235	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	79					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGCATCTTGGGGATTGTGTT	0.547																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(235-237)cCc>cAc		olfactory receptor, family 1, subfamily D, member 2							170	172	171					17																	2996055		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996055G>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.236C>A	17.37:g.2996055G>T	ENSP00000327585:p.Pro79His		Somatic					p.P79H	NM_002548.2	NP_002539.2	WXS	Illumina GAIIx	Phase_I	P34982	OR1D2_HUMAN			1	235	-			79					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.236C>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.355498	0.61293	.	.	ENSG00000184166	ENST00000331459	T	0.01871	4.59	3.0	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19248	0.0462	H	0.98155	4.16	0.35396	D	0.791181	D	0.89917	1.0	D	0.97110	1.0	T	0.38023	-0.9680	9	0.87932	D	0	.	8.9758	0.35935	0.1211:0.0:0.8789:0.0	.	79	P34982	OR1D2_HUMAN	H	79	ENSP00000327585:P79H	ENSP00000327585:P79H	P	-	2	0	OR1D2	2942805	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.301000	0.78850	1.489000	0.48450	0.543000	0.68304	CCC		0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		6	269	6	269	---	---	---	---	T	2996055	G	T	2996055	3	4	9	1	0	0	0	0	1	0	0	0	10953	1232	43	1	705	1	OR1D2	17	2996055	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2351429	2996055	78199155	740	979										
OR1E2	8388	broad.mit.edu	37	chr17	3336249	3336249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcaggctgtagatgaagGgggtcagcataggggtcacc	15	9	3	2	rs376349048		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.chr17:3336249G>T	ENST00000248384.1	-	1	886	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	296					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)			endometrium(3)|large_intestine(3)|lung(3)	9						GTAGATGAAGGGGGTCAGCAT	0.453																																						ENST00000248384.1																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(886-888)cCc>cAc		olfactory receptor, family 1, subfamily E, member 2							80	72	75					17																	3336249		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336249G>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"GPCR / Class A : Olfactory receptors"	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.887C>A	17.37:g.3336249G>T	ENSP00000248384:p.Pro296His		Somatic					p.P296H	NM_003554.1	NP_003545.1	WXS	Illumina GAIIx	Phase_I	P47887	OR1E2_HUMAN			1	886	-			296					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.887C>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877928	0.72294	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.64260	-0.09	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.82144	0.4973	M	0.87758	2.905	0.43632	D	0.996029	D	0.89917	1.0	D	0.97110	1.0	D	0.85180	0.1003	10	0.87932	D	0	.	17.3805	0.87403	0.0:0.0:1.0:0.0	.	296	P47887	OR1E2_HUMAN	H	296;286	ENSP00000248384:P296H	ENSP00000248384:P296H	P	-	2	0	OR1E2	3282999	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.987000	0.76206	2.677000	0.91161	0.561000	0.74099	CCC		0.453	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			6	165	6	165	---	---	---	---	T	3336249	G	T	3336249	3	4	9	1	0	0	0	0	1	0	0	0	10955	1232	43	1	87	1	OR1E2	17	3336249	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	340194	3336249	77858961	741	980										
ZZEF1	23140	broad.mit.edu	37	chr17	3937384	3937384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggcacaatggaactgtccCctgcagcaaacaggttgtgt	11	11	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.chr17:3937384C>A	ENST00000381638.2	-	40	6633	c.6509G>T	c.(6508-6510)gGg>gTg	p.G2170V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2170							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						GGAACTGTCCCCTGCAGCAAA	0.542																																						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.(6508-6510)gGg>gTg		zinc finger, ZZ-type with EF-hand domain 1							157	148	151					17																	3937384		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3937384C>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.6509G>T	17.37:g.3937384C>A	ENSP00000371051:p.Gly2170Val		Somatic					p.G2170V	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			40	6633	-			2170					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6509G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777150	0.49786	.	.	ENSG00000074755	ENST00000381638	T	0.21734	1.99	5.5	4.52	0.55395	.	0.148909	0.43416	D	0.000572	T	0.24198	0.0586	L	0.27053	0.805	0.50813	D	0.999894	P;P	0.51653	0.947;0.804	P;B	0.53313	0.723;0.356	T	0.02238	-1.1190	10	0.87932	D	0	-17.2068	11.0717	0.48008	0.1408:0.7149:0.1443:0.0	.	2170;2170	O43149-2;O43149	.;ZZEF1_HUMAN	V	2170	ENSP00000371051:G2170V	ENSP00000371051:G2170V	G	-	2	0	ZZEF1	3884133	0.962000	0.33011	1.000000	0.80357	0.992000	0.81027	2.549000	0.45803	1.511000	0.48818	0.655000	0.94253	GGG		0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		7	372	7	372	---	---	---	---	A	3937384	C	A	3937384	3	1	9	1	0	0	0	0	1	0	0	0	18252	623	22	1	2440	1	ZZEF1	17	3937384	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	601135	3937384	77257826	742	981										
USP6	9098	broad.mit.edu	37	chr17	5040480	5040480	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccggaacctgattgacgGggtaaggaggcatagggaga	16	7	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.chr17:5040480G>T	ENST00000574788.1	+	19	3054	c.824G>T	c.(823-825)gGg>gTg	p.G275V	USP6_ENST00000332776.4_Splice_Site_p.G275V|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	275	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						CTGATTGACGGGGTAAGGAGG	0.642			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.(823-825)gGg>gTg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							93	85	88					17																	5040480		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:5040480G>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.825+1G>T	17.37:g.5040480G>T			Somatic				USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V	p.G275V			WXS	Illumina GAIIx	Phase_I	P35125	UBP6_HUMAN			19	3054	+			275			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.824G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	g	11.32	1.602607	0.28534	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.53857	0.6;0.6	0.0465	0.0465	0.14256	Rab-GAP/TBC domain (4);	0.187782	0.46758	D	0.000263	T	0.47581	0.1453	N	0.11698	0.16	0.25087	N	0.990884	D	0.69078	0.997	D	0.76575	0.988	T	0.37842	-0.9688	9	0.87932	D	0	.	.	.	.	.	275	P35125	UBP6_HUMAN	V	275	ENSP00000328010:G275V;ENSP00000250066:G275V	ENSP00000250066:G275V	G	+	2	0	USP6	4981204	0.997000	0.39634	0.152000	0.22495	0.154000	0.21943	1.507000	0.35758	0.132000	0.18615	0.134000	0.15878	GGG		0.642	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Missense_Mutation	5	107	5	107	---	---	---	---	T	5040480	G	T	5040480	5	4	9	1	0	0	0	0	0	0	1	0	17083	1246	43	1	862	1	USP6	17	5040480	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1103096	5040480	76154730	743	982										
NLRP1	22861	broad.mit.edu	37	chr17	5437289	5437289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtatccaggccctcagtagGggtcatcacacttggtttcc	10	13	3	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.chr17:5437289G>T	ENST00000572272.1	-	9	2979	c.2980C>A	c.(2980-2982)Cct>Act	p.P994T	NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000345221.3_Missense_Mutation_p.P994T|NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	994					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)				CCCTCAGTAGGGGTCATCACA	0.498																																						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.(2980-2982)Cct>Act		NLR family, pyrin domain containing 1							267	237	247					17																	5437289		2203	4300	6503	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.chr17:5437289G>T	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.2980C>A	17.37:g.5437289G>T	ENSP00000460475:p.Pro994Thr		Somatic				NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000572272.1_Missense_Mutation_p.P994T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T	p.P994T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	WXS	Illumina GAIIx	Phase_I	Q9C000	NALP1_HUMAN			9	3534	-		Colorectal(1115;3.48e-05)	994					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2980C>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992564	0.35131	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.70399	-0.48;-0.48;-0.46;-0.4;-0.46	3.35	-1.19	0.09585	.	0.715744	0.11558	N	0.552099	T	0.72179	0.3428	M	0.70275	2.135	0.09310	N	1	D;D;D;D;D;D	0.69078	0.997;0.982;0.982;0.969;0.982;0.973	P;P;P;P;P;P	0.60682	0.878;0.805;0.805;0.643;0.805;0.771	T	0.59553	-0.7433	10	0.22706	T	0.39	.	0.7226	0.00943	0.2298:0.1883:0.3889:0.193	.	260;964;964;994;994;994	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	T	994;994;994;964;994;260	ENSP00000442029:P994T;ENSP00000262467:P994T;ENSP00000269280:P994T;ENSP00000346390:P964T;ENSP00000324366:P994T	ENSP00000262467:P994T	P	-	1	0	NLRP1	5378013	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.264000	0.02847	-0.154000	0.11118	0.639000	0.83563	CCT		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		8	436	8	436	---	---	---	---	T	5437289	G	T	5437289	3	4	9	1	0	0	0	0	1	0	0	0	10471	1232	43	1	1552	1	NLRP1	17	5437289	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	396809	5437289	75757921	744	983										
AIPL1	23746	broad.mit.edu	37	chr17	6331819	6331819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggataggatggggtagaccCccgtgtgctgtggggataaa	18	6	0	1	rs563684228		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.chr17:6331819C>A	ENST00000381129.3	-	3	364	c.284G>T	c.(283-285)gGg>gTg	p.G95V	AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V|AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	95	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGGTAGACCCCCGTGTGCTG	0.637																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(283-285)gGg>gTg		aryl hydrocarbon receptor interacting protein-like 1							68	56	60					17																	6331819		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6331819C>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.284G>T	17.37:g.6331819C>A	ENSP00000370521:p.Gly95Val		Somatic				AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V	p.G95V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	WXS	Illumina GAIIx	Phase_I	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	364	-			95			PPIase FKBP-type.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.284G>T	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582609	0.28180	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	D;T	0.87650	-2.28;-0.94	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	L	0.49778	1.585	0.80722	D	1	D;B;D;D;P	0.89917	1.0;0.409;1.0;1.0;0.756	D;B;D;D;P	0.97110	1.0;0.082;1.0;1.0;0.585	D	0.87245	0.2269	10	0.16420	T	0.52	-41.5658	15.6483	0.77070	0.0:1.0:0.0:0.0	.	95;73;95;35;95	Q659W3;Q659W4;F1T0C4;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	V	95;35;95	ENSP00000370521:G95V;ENSP00000370520:G35V	ENSP00000370520:G35V	G	-	2	0	AIPL1	6272543	0.997000	0.39634	0.943000	0.38184	0.749000	0.42624	3.728000	0.54991	2.353000	0.79882	0.462000	0.41574	GGG		0.637	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		6	91	6	91	---	---	---	---	A	6331819	C	A	6331819	3	1	9	1	0	0	0	0	1	0	0	0	436	623	22	1	886	1	AIPL1	17	6331819	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	894530	6331819	74863391	745	984										
DLG4	1742	broad.mit.edu	37	chr17	7106238	7106238	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacaggttgtgatgtctggGggagcatagctgtcactcag	14	8	4	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.chr17:7106238G>T	ENST00000399506.2	-	8	962	c.771C>A	c.(769-771)ccC>ccA	p.P257P	DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000399510.2_Silent_p.P300P|DLG4_ENST00000302955.6_Silent_p.P254P			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	257					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)	TGATGTCTGGGGGAGCATAGC	0.527																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(898-900)ccC>ccA		discs, large homolog 4 (Drosophila)							117	119	119					17																	7106238		2089	4207	6296	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.chr17:7106238G>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.771C>A	17.37:g.7106238G>T			Somatic				DLG4_ENST00000399506.2_Silent_p.P257P|DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P	p.P300P	NM_001365.3	NP_001356.1	WXS	Illumina GAIIx	Phase_I	P78352	DLG4_HUMAN			10	1752	-			257					B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.900C>A																																																																																					0.527	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		5	87	5	87	---	---	---	---	T	7106238	G	T	7106238	2	4	9	1	0	0	0	0	0	0	0	1	4557	1219	43	1		1	DLG4	17	7106238	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	774419	7106238	74088972	746	985										
PHF23	79142	broad.mit.edu	37	chr17	7139749	7139749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccctgggaaaggggcacgGgggtaagagcagcagggggc	20	10	0	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.chr17:7139749G>T	ENST00000320316.3	-	4	723	c.497C>A	c.(496-498)cCc>cAc	p.P166H	PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	166							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AAGGGGCACGGGGGTAAGAGC	0.602																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(496-498)cCc>cAc		PHD finger protein 23							47	53	51					17																	7139749		1909	4109	6018	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139749G>T	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.497C>A	17.37:g.7139749G>T	ENSP00000322579:p.Pro166His		Somatic				PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H	p.P166H	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	WXS	Illumina GAIIx	Phase_I	Q9BUL5	PHF23_HUMAN			4	723	-			166					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.497C>A	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896976	0.52121	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.33654	1.41;1.4	4.81	4.81	0.61882	.	0.000000	0.43919	D	0.000517	T	0.51058	0.1652	L	0.43152	1.355	0.35811	D	0.823875	D;D	0.89917	1.0;0.996	D;P	0.83275	0.996;0.75	T	0.61426	-0.7065	10	0.72032	D	0.01	-6.7678	13.249	0.60041	0.0:0.0:1.0:0.0	.	99;166	B4DLK6;Q9BUL5	.;PHF23_HUMAN	H	166;162	ENSP00000322579:P166H;ENSP00000414607:P162H	ENSP00000322579:P166H	P	-	2	0	PHF23	7080473	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.487000	0.66863	2.492000	0.84095	0.563000	0.77884	CCC		0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		6	120	6	120	---	---	---	---	T	7139749	G	T	7139749	3	4	9	1	0	0	0	0	1	0	0	0	11835	1232	43	1	722	1	PHF23	17	7139749	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	33511	7139749	74055461	747	986										
YBX2	51087	broad.mit.edu	37	chr17	7192148	7192148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtccccactgttgacagGggctgaggtctaaagaacag	15	9	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.chr17:7192148G>T	ENST00000007699.5	-	8	1117	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	352	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CTGTTGACAGGGGCTGAGGTC	0.532																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(1054-1056)Cct>Act		Y box binding protein 2							155	140	145					17																	7192148		2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192148G>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.1054C>A	17.37:g.7192148G>T	ENSP00000007699:p.Pro352Thr		Somatic					p.P352T	NM_015982.3	NP_057066.2	WXS	Illumina GAIIx	Phase_I	Q9Y2T7	YBOX2_HUMAN			8	1117	-			352			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.1054C>A	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459281	0.26248	.	.	ENSG00000006047	ENST00000007699	T	0.52057	0.68	5.73	4.76	0.60689	.	0.127066	0.52532	D	0.000065	T	0.43366	0.1244	L	0.54323	1.7	0.31812	N	0.627079	B	0.30851	0.297	B	0.30029	0.11	T	0.57780	-0.7752	10	0.87932	D	0	0.0037	11.3269	0.49454	0.0843:0.0:0.9157:0.0	.	352	Q9Y2T7	YBOX2_HUMAN	T	352	ENSP00000007699:P352T	ENSP00000007699:P352T	P	-	1	0	YBX2	7132872	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.977000	0.49297	1.575000	0.49775	0.655000	0.94253	CCT		0.532	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	78	4	78	---	---	---	---	T	7192148	G	T	7192148	3	4	9	1	0	0	0	0	1	0	0	0	17467	1232	43	1	44	1	YBX2	17	7192148	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	52399	7192148	74003062	748	987										
CNTROB	116840	broad.mit.edu	37	chr17	7852466	7852466	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccgcttgggtgagatcccCcggaaagaggtgagggaaag	16	9	0	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.chr17:7852466C>A	ENST00000563694.1	+	18	3502	c.2577C>A	c.(2575-2577)ccC>ccA	p.P859P	CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Silent_p.P881P	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	859	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)				GTGAGATCCCCCGGAAAGAGG	0.572																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2641-2643)ccC>ccA		centrobin, centrosomal BRCA2 interacting protein							63	64	64					17																	7852466		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852466C>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.2577C>A	17.37:g.7852466C>A			Somatic				CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P859P	p.P881P	NM_001037144.5	NP_001032221.1	WXS	Illumina GAIIx	Phase_I	Q8N137	CNTRB_HUMAN			18	3568	+		Prostate(122;0.173)	859			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2643C>A	CCDS11126.1																																																																																				0.572	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		6	87	6	87	---	---	---	---	A	7852466	C	A	7852466	2	1	9	1	0	0	0	0	0	0	0	1	3651	610	22	1		1	CNTROB	17	7852466	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	660318	7852466	73342744	749	988										
DNAH9	1770	broad.mit.edu	37	chr17	11757555	11757555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggccgtatctgcaagaccCcgagttcaatcctgagtttg	10	12	2	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.chr17:11757555C>A	ENST00000262442.4	+	50	9811	c.9743C>A	c.(9742-9744)cCc>cAc	p.P3248H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk. {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)		CTGCAAGACCCCGAGTTCAAT	0.483																																						ENST00000262442.4																			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.(9742-9744)cCc>cAc		dynein, axonemal, heavy chain 9							151	139	143					17																	11757555		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.chr17:11757555C>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.9743C>A	17.37:g.11757555C>A	ENSP00000262442:p.Pro3248His		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	p.P3248H	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9811	+		Breast(5;0.0122)|all_epithelial(5;0.131)				Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9743C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364088	0.41902	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.82255	-1.59;-1.59	5.54	4.57	0.56435	Dynein heavy chain, coiled coil stalk (1);	0.125552	0.53938	D	0.000045	D	0.93644	0.7970	H	0.98089	4.145	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.94503	0.7711	10	0.87932	D	0	.	10.228	0.43238	0.1357:0.7943:0.0:0.07	.	3248	Q9NYC9	DYH9_HUMAN	H	3248;3248;1830	ENSP00000262442:P3248H;ENSP00000414874:P3248H	ENSP00000262442:P3248H	P	+	2	0	DNAH9	11698280	1.000000	0.71417	0.910000	0.35882	0.243000	0.25628	5.462000	0.66707	1.579000	0.49836	-0.145000	0.13849	CCC		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	314	6	314	---	---	---	---	A	11757555	C	A	11757555	3	1	9	1	0	0	0	0	1	0	0	0	4608	623	22	1	9941	1	DNAH9	17	11757555	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3905089	11757555	69437655	750	989										
TOM1L2	146691	broad.mit.edu	37	chr17	17797015	17797015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcctgtacaatggtgggaGggttgttcttgggagatata	15	4	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.chr17:17797015G>T	ENST00000379504.3	-	4	409	c.326C>A	c.(325-327)cCt>cAt	p.P109H	TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	109	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AATGGTGGGAGGGTTGTTCTT	0.468																																					Melanoma(192;2505 2909 14455 25269)	ENST00000379504.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(325-327)cCt>cAt		target of myb1-like 2 (chicken)							119	119	119					17																	17797015		1918	4142	6060	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17797015G>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.326C>A	17.37:g.17797015G>T	ENSP00000368818:p.Pro109His		Somatic				TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H	p.P109H	NM_001082968.1	NP_001076437.1	WXS	Illumina GAIIx	Phase_I	Q6ZVM7	TM1L2_HUMAN			4	409	-	all_neural(463;0.228)		109			VHS.		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.326C>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843131	0.91197	.	.	ENSG00000175662	ENST00000379504;ENST00000395739;ENST00000535933;ENST00000540946	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.62	4.62	0.57501	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.054006	0.85682	D	0.000000	T	0.47154	0.1430	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.984;0.991;0.995	T	0.47898	-0.9081	10	0.54805	T	0.06	-12.3034	17.6644	0.88200	0.0:0.0:1.0:0.0	.	109;109;109;109	B7Z2U2;B7Z2L7;Q6ZVM7-3;Q6ZVM7	.;.;.;TM1L2_HUMAN	H	109	ENSP00000368818:P109H;ENSP00000379088:P109H;ENSP00000438621:P109H;ENSP00000437655:P109H	ENSP00000368818:P109H	P	-	2	0	TOM1L2	17737740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.595000	0.98260	2.393000	0.81446	0.585000	0.79938	CCT		0.468	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			6	199	6	199	---	---	---	---	T	17797015	G	T	17797015	3	4	9	1	0	0	0	0	1	0	0	0	16350	1000	35	1	1245	1	TOM1L2	17	17797015	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6039460	17797015	63398195	751	990										
SHMT1	6470	broad.mit.edu	37	chr17	18238892	18238892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcaatggcgtggttgtgGggacctccctgcaggccagg	16	12	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.chr17:18238892G>T	ENST00000316694.3	-	8	1046	c.912C>A	c.(910-912)ccC>ccA	p.P304P	SHMT1_ENST00000352886.6_Intron|SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	304					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)	CGTGGTTGTGGGGACCTCCCT	0.517																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(910-912)ccC>ccA		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						232	219	224					17																	18238892		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:18238892G>T		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.912C>A	17.37:g.18238892G>T			Somatic				SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron	p.P304P	NM_004169.3	NP_004160.3	WXS	Illumina GAIIx	Phase_I	P34896	GLYC_HUMAN			8	1046	-			304					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.912C>A	CCDS11196.1																																																																																				0.517	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		7	392	7	392	---	---	---	---	T	18238892	G	T	18238892	2	4	9	1	0	0	0	0	0	0	0	1	14285	1219	43	1		1	SHMT1	17	18238892	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	441877	18238892	62956318	752	991										
EPN2	22905	broad.mit.edu	37	chr17	19235220	19235220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaactaccagccctgaccCctttgagtctcaacccctga	7	16	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.chr17:19235220C>A	ENST00000314728.5	+	10	1950	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	489	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)					AGCCCTGACCCCTTTGAGTCT	0.582																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1465-1467)cCc>cAc		epsin 2							201	160	174					17																	19235220		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235220C>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.1466C>A	17.37:g.19235220C>A	ENSP00000320543:p.Pro489His		Somatic				EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H	p.P489H	NM_014964.4	NP_055779.2	WXS	Illumina GAIIx	Phase_I	O95208	EPN2_HUMAN			10	1950	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		489			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1466C>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609519	0.66558	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.76	2.31	0.28768	.	0.697476	0.14041	N	0.345451	T	0.33527	0.0866	M	0.76170	2.325	0.31188	N	0.701256	D;D;D;D;D;P	0.61697	0.966;0.966;0.99;0.99;0.966;0.939	P;P;P;P;P;P	0.58970	0.759;0.599;0.849;0.849;0.759;0.695	T	0.29882	-0.9997	10	0.26408	T	0.33	-17.1648	4.2731	0.10796	0.0:0.4475:0.0:0.5525	.	432;425;197;204;432;489	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	H	432;204;489;432;432	ENSP00000261495:P432H;ENSP00000378980:P204H;ENSP00000320543:P489H;ENSP00000378982:P432H	ENSP00000320543:P489H	P	+	2	0	EPN2	19175813	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	1.394000	0.34509	1.078000	0.41014	0.462000	0.41574	CCC		0.582	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		7	240	7	240	---	---	---	---	A	19235220	C	A	19235220	3	1	9	1	0	0	0	0	1	0	0	0	5186	623	22	1	1496	1	EPN2	17	19235220	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	996328	19235220	61959990	753	992										
CYTSB	92521	broad.mit.edu	37	chr17	20107684	20107684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacggacaggcattccagccCcacgggaattttcagtaact	9	12	1	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.chr17:20107684C>A	ENST00000261503.5	+	4	373	c.322C>A	c.(322-324)Cca>Aca	p.P108T	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	108					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)		CATTCCAGCCCCACGGGAATT	0.443																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(79-81)Cca>Aca		sperm antigen with calponin homology and coiled-coil domains 1							168	179	175					17																	20107684		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20107684C>A	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.322C>A	17.37:g.20107684C>A	ENSP00000261503:p.Pro108Thr		Somatic				SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.P108T	p.P27T	NM_001033555.2	NP_001028727.1	WXS	Illumina GAIIx	Phase_I	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	287	+			108					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.79C>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925530	0.52759	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.64085	-0.08;2.9;2.8;2.8	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.65498	2.005	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.765	D;D;D;B	0.91635	0.999;0.999;0.999;0.353	T	0.75213	-0.3397	10	0.36615	T	0.2	-17.5326	16.4284	0.83832	0.0:1.0:0.0:0.0	.	27;27;108;108	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	T	108;108;108;27;27;27	ENSP00000261503:P108T;ENSP00000378900:P108T;ENSP00000378893:P27T;ENSP00000378896:P27T	ENSP00000261503:P108T	P	+	1	0	SPECC1	20048276	1.000000	0.71417	0.734000	0.30879	0.876000	0.50452	7.163000	0.77524	2.558000	0.86282	0.591000	0.81541	CCA		0.443	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		8	423	8	423	---	---	---	---	A	20107684	C	A	20107684	3	1	9	1	0	0	0	0	1	0	0	0	4210	623	22	1	376	1	CYTSB	17	20107684	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	872464	20107684	61087526	754	993										
PROCA1	6830	broad.mit.edu	37	chr17	27030734	27030734	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggacagttctccctgccCccggccattgtaactgtcct	9	16	1	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.chr17:27030734C>A	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000301039.2_Missense_Mutation_p.G285W|PROCA1_ENST00000581289.1_3'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					TCTCCCTGCCCCCGGCCATTG	0.572																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(853-855)Ggg>Tgg		protein interacting with cyclin A1							104	101	102					17																	27030734		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030734C>A	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			17.37:g.27030734C>A			Somatic				PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000581289.1_3'UTR	p.G285W	NM_152465.1	NP_689678.1	WXS	Illumina GAIIx	Phase_I	Q8NCQ7	PRCA1_HUMAN			4	1046	-	Lung NSC(42;0.00431)		313					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.853G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760472	0.49468	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.05139	3.49;3.49	5.27	-3.65	0.04502	.	0.695775	0.12495	N	0.463859	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.76575	0.936;0.971;0.988	T	0.21245	-1.0251	10	0.72032	D	0.01	-3.6069	1.6197	0.02711	0.1395:0.2773:0.138:0.4452	.	313;287;285	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	W	285;287;313	ENSP00000301039:G285W;ENSP00000411400:G287W	ENSP00000301039:G285W	G	-	1	0	PROCA1	24054861	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	-0.991000	0.03728	-0.313000	0.08728	0.655000	0.94253	GGG		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	212	7	212	---	---	---	---	A	27030734	C	A	27030734	1	1	9	0	1	0	0	0	0	0	0	0	12546	623	22	1		1	PROCA1	17	27030734	IGR	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6923050	27030734	54164476	755	994										
RAB34	83871	broad.mit.edu	37	chr17	27043922	27043922	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggtgtccctaactcaccCcacggtgcctgtccggtgct	12	15	1	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.chr17:27043922C>A	ENST00000395245.3	-	2	771	c.145G>T	c.(145-147)Gga>Tga	p.G49*	RPL23A_ENST00000422514.2_5'Flank|RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	49					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)					CTAACTCACCCCACGGTGCCT	0.602																																					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.(145-147)Gga>Tga		RAB34, member RAS oncogene family							56	59	58					17																	27043922		2203	4300	6503	SO:0001630	splice_region_variant	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27043922C>A	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.146+1G>T	17.37:g.27043922C>A			Somatic				RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*	p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	WXS	Illumina GAIIx	Phase_I	Q9BZG1	RAB34_HUMAN			2	771	-	Lung NSC(42;0.00431)		49					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Splice_Site	SNP	ENST00000395245.3	37	c.145G>T	CCDS11240.1	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	C|C|C|C	37|37|37|37	6.502972|6.502972|6.502972|6.502972	0.97620|0.97620|0.97620|0.97620	.|.|.|.	.|.|.|.	ENSG00000109113|ENSG00000109113|ENSG00000109113|ENSG00000109113	ENST00000453384;ENST00000395242|ENST00000415040|ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395245;ENST00000436730;ENST00000412625;ENST00000353676|ENST00000419712	T;T|T|.|.	0.69435|0.76968|.|.	-0.4;-0.14|-1.06|.|.	5.39|5.39|5.39|5.39	5.39|5.39|5.39|5.39	0.77823|0.77823|0.77823|0.77823	.|.|.|.	0.103999|0.103999|0.103999|.	0.64402|0.64402|0.64402|.	D|D|D|.	0.000004|0.000004|0.000004|.	T|T|.|T	0.63402|0.63402|.|0.63402	0.2508|0.2508|.|0.2508	L|L|L|L	0.43923|0.43923|0.43923|0.43923	1.385|1.385|1.385|1.385	.|.|.|.	.|.|.|.	.|.|.|.	D;D|D|.|.	0.76494|0.63880|.|.	0.999;0.996|0.993|.|.	D;P|P|.|.	0.68192|0.60173|.|.	0.956;0.88|0.87|.|.	T|T|.|T	0.59532|0.59532|.|0.59532	-0.7437|-0.7437|.|-0.7437	9|9|.|4	0.87932|0.87932|0.87932|.	D|D|D|.	0|0|0|.	-7.1499|-7.1499|-7.1499|-7.1499	17.8985|17.8985|17.8985|17.8985	0.88896|0.88896|0.88896|0.88896	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.|.	106;49|49|.|.	E7ES60;A8MYQ9|E9PEJ9|.|.	.;.|.|.|.	C|W|X|C	106;49|49|106;49;49;72;49;72;49;49|68	ENSP00000413156:G106C;ENSP00000378663:G49C|ENSP00000410279:G49W|.|.	ENSP00000378663:G49C|ENSP00000410279:G49W|ENSP00000301043:G49X|.	G|G|G|W	-|-|-|-	1|1|1|3	0|0|0|0	RAB34|RAB34|RAB34|RAB34	24068049|24068049|24068049|24068049	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.997000|0.997000|0.997000|0.997000	0.91878|0.91878|0.91878|0.91878	2.519000|2.519000|2.519000|2.519000	0.45546|0.45546|0.45546|0.45546	2.812000|2.812000|2.812000|2.812000	0.96745|0.96745|0.96745|0.96745	0.561000|0.561000|0.561000|0.561000	0.74099|0.74099|0.74099|0.74099	GGC|GGG|GGA|TGG		0.602	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934	Nonsense_Mutation	5	123	5	123	---	---	---	---	A	27043922	C	A	27043922	5	1	9	1	0	0	0	0	0	0	1	0	12924	637	22	1	737	1	RAB34	17	27043922	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	13188	27043922	54151288	756	995										
SSH2	85464	broad.mit.edu	37	chr17	27958281	27958281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaagcagtttgagatgagGggattcacaggaggcaggct	16	6	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.chr17:27958281G>T	ENST00000269033.3	-	15	4001	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T|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	1284					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						TTGAGATGAGGGGATTCACAG	0.542																																						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.(3850-3852)Cct>Act		slingshot protein phosphatase 2							94	89	91					17																	27958281		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.chr17:27958281G>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.3850C>A	17.37:g.27958281G>T	ENSP00000269033:p.Pro1284Thr		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T	p.P1284T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	4001	-			1284					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3850C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242846	0.22796	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.39406	1.08;1.08	6.17	4.16	0.48862	.	0.522632	0.20877	N	0.084070	T	0.35335	0.0928	L	0.50333	1.59	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.16722	0.016;0.007	T	0.12293	-1.0553	10	0.39692	T	0.17	-3.7117	7.9913	0.30242	0.063:0.1803:0.6479:0.1087	.	1311;1284	F5H527;Q76I76	.;SSH2_HUMAN	T	1284;1311	ENSP00000269033:P1284T;ENSP00000444743:P1311T	ENSP00000269033:P1284T	P	-	1	0	SSH2	24982407	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	2.110000	0.41873	0.907000	0.36646	0.655000	0.94253	CCT		0.542	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	166	7	166	---	---	---	---	T	27958281	G	T	27958281	3	4	9	1	0	0	0	0	1	0	0	0	15184	1232	43	1	425	1	SSH2	17	27958281	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	914359	27958281	53236929	757	996										
SSH2	85464	broad.mit.edu	37	chr17	27959328	27959328	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagacccactgtatttccCtttgcctttgctcatttctg	5	14	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.chr17:27959328C>A	ENST00000269033.3	-	15	2954	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	SSH2_ENST00000540801.1_Missense_Mutation_p.G962W|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	935					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						CTGTATTTCCCTTTGCCTTTG	0.512																																						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.(2803-2805)Ggg>Tgg		slingshot protein phosphatase 2							150	152	151					17																	27959328		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.chr17:27959328C>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.2803G>T	17.37:g.27959328C>A	ENSP00000269033:p.Gly935Trp		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G962W	p.G935W	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2954	-			935					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2803G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259914	0.23051	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.11063	2.82;2.81	5.38	4.21	0.49690	.	1.223680	0.05225	N	0.509269	T	0.29620	0.0739	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.69078	0.997;0.99	D;P	0.65140	0.932;0.763	T	0.15867	-1.0422	10	0.66056	D	0.02	-4.8694	10.2876	0.43577	0.0:0.8296:0.0:0.1704	.	962;935	F5H527;Q76I76	.;SSH2_HUMAN	W	935;962	ENSP00000269033:G935W;ENSP00000444743:G962W	ENSP00000269033:G935W	G	-	1	0	SSH2	24983454	0.004000	0.15560	0.960000	0.40013	0.152000	0.21847	0.656000	0.24948	2.520000	0.84964	0.591000	0.81541	GGG		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		6	291	6	291	---	---	---	---	A	27959328	C	A	27959328	3	1	9	1	0	0	0	0	1	0	0	0	15184	681	24	1	1472	1	SSH2	17	27959328	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1047	27959328	53235882	758	997										
C17orf66	256957	broad.mit.edu	37	chr17	34191783	34191783	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttaatctttgccacttcagGgggtcctgggtaggctctaa	11	10	3	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.chr17:34191783G>T	ENST00000311880.2	-	4	580	c.432C>A	c.(430-432)ccC>ccA	p.P144P	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		144					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)		GCCACTTCAGGGGGTCCTGGG	0.542																																						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.(430-432)ccC>ccA		chromosome 17 open reading frame 66							126	117	120					17																	34191783		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34191783G>T																												ENST00000311880.2:c.432C>A	17.37:g.34191783G>T			Somatic				C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	p.P144P	NM_152781.2	NP_689994.2	WXS	Illumina GAIIx	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	4	580	-		Ovarian(249;0.17)	144					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.432C>A	CCDS11299.1																																																																																				0.542	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			5	141	5	141	---	---	---	---	T	34191783	G	T	34191783	2	4	9	1	0	0	0	0	0	0	0	1	1874	1219	43	1		1	C17orf66	17	34191783	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6232455	34191783	47003427	759	998										
GPR179	440435	broad.mit.edu	37	chr17	36485335	36485335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgccttggtgatgtcagGggtatgagcttctgggccag	15	9	3	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.chr17:36485335G>T	ENST00000342292.4	-	11	4137	c.4117C>A	c.(4117-4119)Cct>Act	p.P1373T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1373					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)				GTGATGTCAGGGGTATGAGCT	0.597																																						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.(4117-4119)Cct>Act		G protein-coupled receptor 179							78	86	83					17																	36485335		2040	4188	6228	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485335G>T		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.4117C>A	17.37:g.36485335G>T	ENSP00000345060:p.Pro1373Thr		Somatic					p.P1373T	NM_001004334.2	NP_001004334.2	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			11	4137	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1373						Missense_Mutation	SNP	ENST00000342292.4	37	c.4117C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266667	0.05754	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.74	-3.03	0.05429	.	1.225210	0.06000	N	0.647627	T	0.38532	0.1044	L	0.47716	1.5	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.36383	-0.9750	10	0.62326	D	0.03	1.8555	6.4156	0.21715	0.3544:0.269:0.3766:0.0	.	1373	Q6PRD1	GP179_HUMAN	T	1373	ENSP00000345060:P1373T	ENSP00000345060:P1373T	P	-	1	0	GPR179	33738861	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.252000	0.08806	-1.100000	0.03030	-1.842000	0.00583	CCT		0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			6	182	6	182	---	---	---	---	T	36485335	G	T	36485335	3	4	9	1	0	0	0	0	1	0	0	0	6674	1232	43	1	2990	1	GPR179	17	36485335	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2293552	36485335	44709875	760	999										
MED1	5469	broad.mit.edu	37	chr17	37566496	37566496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaagggctgcttccataaaGggttgagaaatcctgggcag	13	7	0	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.chr17:37566496G>T	ENST00000300651.6	-	17	2201	c.1978C>A	c.(1978-1980)Ctt>Att	p.L660I	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)		CTTCCATAAAGGGTTGAGAAA	0.512										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.(1978-1980)Ctt>Att		mediator complex subunit 1							87	86	87					17																	37566496		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.chr17:37566496G>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.1978C>A	17.37:g.37566496G>T	ENSP00000300651:p.Leu660Ile	HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Intron	p.L660I	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	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	2201	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	660			Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and 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.1978C>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370742	0.42003	.	.	ENSG00000125686	ENST00000300651	T	0.56611	0.45	5.62	5.62	0.85841	.	.	.	.	.	T	0.55257	0.1909	N	0.24115	0.695	0.43588	D	0.995937	D	0.63880	0.993	D	0.70016	0.967	T	0.53365	-0.8449	9	0.37606	T	0.19	-9.12	10.1495	0.42784	0.1479:0.0:0.8521:0.0	.	660	Q15648	MED1_HUMAN	I	660	ENSP00000300651:L660I	ENSP00000300651:L660I	L	-	1	0	MED1	34820022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.922000	0.63404	2.637000	0.89404	0.561000	0.74099	CTT		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		6	250	6	250	---	---	---	---	T	37566496	G	T	37566496	3	4	9	1	0	0	0	0	1	0	0	0	9425	1000	35	1	2771	1	MED1	17	37566496	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1081161	37566496	43628714	761	1000										
MED1	5469	broad.mit.edu	37	chr17	37566851	37566851	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taccctgggctgctagccggGggcaggttctttttcaccat	12	12	2	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.chr17:37566851G>T	ENST00000394287.3	-	17	1828	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	MED1_ENST00000300651.6_Silent_p.P541P			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)		TGCTAGCCGGGGGCAGGTTCT	0.547										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.(1621-1623)ccC>ccA		mediator complex subunit 1							105	101	102					17																	37566851		2203	4300	6503	SO:0001819	synonymous_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.chr17:37566851G>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	ENST00000394287.3:c.1623C>A	17.37:g.37566851G>T		HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Silent_p.P541P	p.P541P	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	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	1846	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	541			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.1623C>A																																																																																					0.547	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		5	174	5	174	---	---	---	---	T	37566851	G	T	37566851	2	4	9	1	0	0	0	0	0	0	0	1	9425	1219	43	1		1	MED1	17	37566851	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	355	37566851	43628359	762	1001										
CDK12	51755	broad.mit.edu	37	chr17	37686895	37686895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccaccagagaagaggcccCctgagccccccggacctcca	9	19	0	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.chr17:37686895C>A	ENST00000447079.4	+	14	3832	c.3799C>A	c.(3799-3801)Cct>Act	p.P1267T	CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1267	Poly-Pro.				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						GAAGAGGCCCCCTGAGCCCCC	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.(3799-3801)Cct>Act		cyclin-dependent kinase 12							89	119	109					17																	37686895		2200	4291	6491	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.chr17:37686895C>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.3799C>A	17.37:g.37686895C>A	ENSP00000398880:p.Pro1267Thr	TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	p.P1267T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			14	3832	+			1267			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3799C>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211780	0.39102	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.79845	-1.1;-1.31	5.35	5.35	0.76521	.	0.000000	0.48767	D	0.000165	D	0.85465	0.5703	L	0.38175	1.15	0.42318	D	0.992241	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.84769	0.0766	10	0.42905	T	0.14	-9.4085	17.9979	0.89189	0.0:1.0:0.0:0.0	.	1267;1258	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	T	1258;1267	ENSP00000407720:P1258T;ENSP00000398880:P1267T	ENSP00000407720:P1258T	P	+	1	0	CDK12	34940421	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.274000	0.72587	2.789000	0.95967	0.655000	0.94253	CCT		0.557	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	387	9	387	---	---	---	---	A	37686895	C	A	37686895	3	1	9	1	0	0	0	0	1	0	0	0	3128	623	22	1	3853	1	CDK12	17	37686895	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	120044	37686895	43508315	763	1002										
RAPGEFL1	51195	broad.mit.edu	37	chr17	38348923	38348923	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaagccccctgtgattccCttcgtgcctctgatcctcaa	7	15	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.chr17:38348923C>A	ENST00000456989.2	+	12	1315	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000436615.3_Silent_p.P368P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	574					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTGATTCCCTTCGTGCCTC	0.532																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(1102-1104)ccC>ccA		Rap guanine nucleotide exchange factor (GEF)-like 1							234	234	234					17																	38348923		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38348923C>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1269C>A	17.37:g.38348923C>A			Somatic				RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000456989.2_Silent_p.P423P	p.P368P	NM_016339.3	NP_057423.1	WXS	Illumina GAIIx	Phase_I	Q9UHV5	RPGFL_HUMAN			12	1594	+			574						Silent	SNP	ENST00000456989.2	37	c.1104C>A																																																																																					0.532	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		7	373	7	373	---	---	---	---	A	38348923	C	A	38348923	2	1	9	1	0	0	0	0	0	0	0	1	13049	668	24	1		1	RAPGEFL1	17	38348923	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	662028	38348923	42846287	764	1003										
WIPF2	147179	broad.mit.edu	37	chr17	38420795	38420795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagttctcgagctgctgccCcaaggcctccagtatctgcc	9	17	2	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.chr17:38420795C>A	ENST00000323571.4	+	5	607	c.367C>A	c.(367-369)Cca>Aca	p.P123T	WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	123					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCTGCTGCCCCAAGGCCTCC	0.567										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(367-369)Cca>Aca		WAS/WASL interacting protein family, member 2							57	66	63					17																	38420795		2203	4299	6502	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420795C>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.367C>A	17.37:g.38420795C>A	ENSP00000320924:p.Pro123Thr	HNSCC(43;0.11)	Somatic				WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T	p.P123T	NM_133264.4	NP_573571.1	WXS	Illumina GAIIx	Phase_I	Q8TF74	WIPF2_HUMAN			5	607	+			123					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.367C>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.282794	0.80692	.	.	ENSG00000171475	ENST00000323571	T	0.34072	1.38	5.16	5.16	0.70880	.	0.229424	0.44902	D	0.000418	T	0.49287	0.1548	M	0.64404	1.975	0.80722	D	1	D	0.54047	0.964	P	0.50314	0.637	T	0.51911	-0.8645	10	0.62326	D	0.03	-6.7117	18.9226	0.92530	0.0:1.0:0.0:0.0	.	123	Q8TF74	WIPF2_HUMAN	T	123	ENSP00000320924:P123T	ENSP00000320924:P123T	P	+	1	0	WIPF2	35674321	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.491000	0.73649	2.701000	0.92244	0.544000	0.68410	CCA		0.567	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		6	158	6	158	---	---	---	---	A	38420795	C	A	38420795	3	1	9	1	0	0	0	0	1	0	0	0	17365	623	22	1	381	1	WIPF2	17	38420795	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	71872	38420795	42774415	765	1004										
TNS4	84951	broad.mit.edu	37	chr17	38643289	38643289	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atattggtttacgacgtaccCtctgggcatgtggtaaaggg	13	7	1	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.chr17:38643289C>A	ENST00000254051.6	-	4	1445	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					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)			ACGACGTACCCTCTGGGCATG	0.507																																						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.(1285-1287)gaG>gaT		tensin 4							272	292	285					17																	38643289		2203	4300	6503	SO:0001630	splice_region_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38643289C>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.1288+1G>T	17.37:g.38643289C>A			Somatic					p.E429D	NM_032865.5	NP_116254.4	WXS	Illumina GAIIx	Phase_I	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	1445	-		Breast(137;0.000496)	429					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Splice_Site	SNP	ENST00000254051.6	37	c.1287G>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	3.839	-0.034120	0.07543	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.63744	-0.06	5.24	-4.97	0.03029	.	1.031350	0.07725	N	0.944295	T	0.33323	0.0859	N	0.19112	0.55	0.19775	N	0.999957	B	0.10296	0.003	B	0.06405	0.002	T	0.23619	-1.0183	10	0.12103	T	0.63	-5.7675	0.1222	0.00066	0.3372:0.1744:0.2216:0.2669	.	429	Q8IZW8	TENS4_HUMAN	D	429	ENSP00000254051:E429D	ENSP00000254051:E429D	E	-	3	2	TNS4	35896815	0.001000	0.12720	0.201000	0.23476	0.213000	0.24496	-2.571000	0.00913	-0.812000	0.04363	0.655000	0.94253	GAG		0.507	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865	Missense_Mutation	8	723	8	723	---	---	---	---	A	38643289	C	A	38643289	5	1	9	1	0	0	0	0	0	0	1	0	16342	695	24	1	900	1	TNS4	17	38643289	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	222494	38643289	42551921	766	1005										
KRT24	192666	broad.mit.edu	37	chr17	38859679	38859679	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accccgccaaagctagaaccCccaccaaatcctgtcccaga	5	19	0	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.chr17:38859679C>A	ENST00000264651.2	-	1	323	c.267G>T	c.(265-267)ggG>ggT	p.G89G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	89	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)				AGCTAGAACCCCCACCAAATC	0.567																																					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.(265-267)ggG>ggT		keratin 24							82	103	96					17																	38859679		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859679C>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.267G>T	17.37:g.38859679C>A			Somatic					p.G89G	NM_019016.2	NP_061889.2	WXS	Illumina GAIIx	Phase_I	Q2M2I5	K1C24_HUMAN			1	323	-		Breast(137;0.00526)	89			Gly-rich.|Head.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.267G>T	CCDS11372.1																																																																																				0.567	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		5	119	5	119	---	---	---	---	A	38859679	C	A	38859679	2	1	9	1	0	0	0	0	0	0	0	1	8461	610	22	1		1	KRT24	17	38859679	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	216390	38859679	42335531	767	1006										
KCNH4	23415	broad.mit.edu	37	chr17	40328132	40328132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgtgtcgcgaagtgatggGggtgtcatcgtcacccgaga	17	8	2	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.chr17:40328132G>T	ENST00000264661.3	-	5	1101	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	257					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)		GAAGTGATGGGGGTGTCATCG	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.(769-771)Ccc>Acc		potassium voltage-gated channel, subfamily H (eag-related), member 4							148	122	131					17																	40328132		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.chr17:40328132G>T	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.769C>A	17.37:g.40328132G>T	ENSP00000264661:p.Pro257Thr		Somatic				KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	p.P257T	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1101	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	257						Missense_Mutation	SNP	ENST00000264661.3	37	c.769C>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531063	0.27387	.	.	ENSG00000089558	ENST00000264661	D	0.98849	-5.18	5.53	4.57	0.56435	.	0.000000	0.40469	N	0.001086	D	0.94896	0.8350	N	0.19112	0.55	0.31414	N	0.6751	B	0.23442	0.085	B	0.14023	0.01	D	0.92463	0.5979	10	0.18710	T	0.47	.	11.5236	0.50567	0.1425:0.0:0.8575:0.0	.	257	Q9UQ05	KCNH4_HUMAN	T	257	ENSP00000264661:P257T	ENSP00000264661:P257T	P	-	1	0	KCNH4	37581658	0.998000	0.40836	0.997000	0.53966	0.845000	0.48019	2.626000	0.46460	1.584000	0.49913	0.655000	0.94253	CCC		0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		7	197	7	197	---	---	---	---	T	40328132	G	T	40328132	3	4	9	1	0	0	0	0	1	0	0	0	8034	1232	43	1	2332	1	KCNH4	17	40328132	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1468453	40328132	40867078	768	1007										
STAT3	6774	broad.mit.edu	37	chr17	40474448	40474448	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatagcccatgatgatttcAgcaaatgacatgttgttcag	8	7	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.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	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			Somatic				STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	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	98	239	---	---	---	---	G	40474448	A	G	40474448	2	3	9	1	0	0	0	0	0	0	0	1	15265	175	7	2		2	STAT3	17	40474448	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08	146316	40474448	40720762	769	1008										
NAGLU	4669	broad.mit.edu	37	chr17	40690429	40690429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcctgccttcctggcctggGggcgaatgggcaacctgcac	14	14	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.chr17:40690429G>T	ENST00000225927.2	+	3	705	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	202					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCCTGGGGGCGAATGGG	0.587																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(604-606)Ggg>Tgg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						99	107	104					17																	40690429		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690429G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.604G>T	17.37:g.40690429G>T	ENSP00000225927:p.Gly202Trp		Somatic				RP11-400F19.8_ENST00000585572.1_RNA	p.G202W	NM_000263.3	NP_000254.2	WXS	Illumina GAIIx	Phase_I	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	705	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	202						Missense_Mutation	SNP	ENST00000225927.2	37	c.604G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670330	0.47677	.	.	ENSG00000108784	ENST00000225927	D	0.98747	-5.11	5.42	5.42	0.78866	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.205916	0.44285	D	0.000474	D	0.96034	0.8708	N	0.25380	0.74	0.38813	D	0.955452	B	0.29378	0.243	B	0.29942	0.109	D	0.95251	0.8360	10	0.66056	D	0.02	-21.4688	12.2217	0.54437	0.0828:0.0:0.9172:0.0	.	202	P54802	ANAG_HUMAN	W	202	ENSP00000225927:G202W	ENSP00000225927:G202W	G	+	1	0	NAGLU	37943955	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.830000	0.62745	2.527000	0.85204	0.555000	0.69702	GGG		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		6	262	6	262	---	---	---	---	T	40690429	G	T	40690429	3	4	9	1	0	0	0	0	1	0	0	0	10143	1232	43	1	614	1	NAGLU	17	40690429	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	215981	40690429	40504781	770	1009										
CNTNAP1	8506	broad.mit.edu	37	chr17	40843875	40843875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggggctgcactacgcttccCcccaatccgtgccaaccaca	8	19	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.chr17:40843875C>A	ENST00000264638.4	+	16	2613	c.2396C>A	c.(2395-2397)cCc>cAc	p.P799H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	799					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)		CTACGCTTCCCCCCAATCCGT	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.(2395-2397)cCc>cAc		contactin associated protein 1							223	229	227					17																	40843875		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.chr17:40843875C>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.2396C>A	17.37:g.40843875C>A	ENSP00000264638:p.Pro799His		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.P799H	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2613	+		Breast(137;0.000143)	799						Missense_Mutation	SNP	ENST00000264638.4	37	c.2396C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042872	0.93685	.	.	ENSG00000108797	ENST00000264638	T	0.80566	-1.39	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000001	D	0.90783	0.7106	M	0.86651	2.83	0.80722	D	1	D	0.64830	0.994	D	0.66497	0.944	D	0.91897	0.5528	10	0.87932	D	0	.	18.5346	0.91006	0.0:1.0:0.0:0.0	.	799	P78357	CNTP1_HUMAN	H	799	ENSP00000264638:P799H	ENSP00000264638:P799H	P	+	2	0	CNTNAP1	38097401	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.619000	0.83057	2.755000	0.94549	0.655000	0.94253	CCC		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		9	615	9	615	---	---	---	---	A	40843875	C	A	40843875	3	1	9	1	0	0	0	0	1	0	0	0	3646	623	22	1	2458	1	CNTNAP1	17	40843875	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	153446	40843875	40351335	771	1010										
GPATCH8	23131	broad.mit.edu	37	chr17	42476068	42476068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccaaagtaaccttgtgggGggtccttgagcttgggccca	14	11	0	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.chr17:42476068G>T	ENST00000591680.1	-	8	3407	c.3377C>A	c.(3376-3378)cCc>cAc	p.P1126H	GPATCH8_ENST00000434000.1_Missense_Mutation_p.P1048H	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1126							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)		ACCTTGTGGGGGGTCCTTGAG	0.547																																						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.(3142-3144)cCc>cAc		G patch domain containing 8							110	108	109					17																	42476068		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476068G>T	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.3377C>A	17.37:g.42476068G>T	ENSP00000467556:p.Pro1126His		Somatic				GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1126H	p.P1048H			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3425	-		Prostate(33;0.0181)	1126					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3143C>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008104	0.54361	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15952	2.38	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01834	-1.1264	10	0.38643	T	0.18	-16.1436	18.4809	0.90811	0.0:0.0:1.0:0.0	.	1126	Q9UKJ3	GPTC8_HUMAN	H	1126;1048	ENSP00000395016:P1048H	ENSP00000335486:P1126H	P	-	2	0	GPATCH8	39831594	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.263000	0.95617	2.602000	0.87976	0.650000	0.86243	CCC		0.547	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		5	175	5	175	---	---	---	---	T	42476068	G	T	42476068	3	4	9	1	0	0	0	0	1	0	0	0	6594	1232	43	1	1135	1	GPATCH8	17	42476068	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1632193	42476068	38719142	772	1011										
KIAA1267	284058	broad.mit.edu	37	chr17	44248976	44248976	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagtgagagcccgttttccCccattgagggaagtggaatt	13	8	0	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.chr17:44248976C>A	ENST00000262419.6	-	2	1004	c.534G>T	c.(532-534)ggG>ggT	p.G178G	KANSL1_ENST00000575318.1_Silent_p.G178G|KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Silent_p.G178G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	178					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)											CCCGTTTTCCCCCATTGAGGG	0.478																																						ENST00000262419.6																			0											c.(532-534)ggG>ggT		KAT8 regulatory NSL complex subunit 1							105	139	128					17																	44248976		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44248976C>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.534G>T	17.37:g.44248976C>A			Somatic				KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G178G	p.G178G	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			2	1004	-			178					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.534G>T	CCDS11503.1																																																																																				0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		7	337	7	337	---	---	---	---	A	44248976	C	A	44248976	2	1	9	1	0	0	0	0	0	0	0	1	8219	610	22	1		1	KIAA1267	17	44248976	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1772908	44248976	36946234	773	1012										
SCRN2	90507	broad.mit.edu	37	chr17	45915953	45915953	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggctgcgtgggatcctgGggcaggacagacaccatgct	16	11	0	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.chr17:45915953G>T	ENST00000290216.9	-	6	1007	c.882C>A	c.(880-882)ccC>ccA	p.P294P	SCRN2_ENST00000407215.3_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	294						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGGGATCCTGGGGCAGGACAG	0.607																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(880-882)ccC>ccA		secernin 2							112	101	104					17																	45915953		2203	4300	6503	SO:0001819	synonymous_variant	90507				proteolysis		dipeptidase activity	g.chr17:45915953G>T	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.882C>A	17.37:g.45915953G>T			Somatic				SCRN2_ENST00000290216.9_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P	p.P294P			WXS	Illumina GAIIx	Phase_I	Q96FV2	SCRN2_HUMAN			6	963	-			294					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	c.882C>A	CCDS11519.1																																																																																				0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		5	144	5	144	---	---	---	---	T	45915953	G	T	45915953	2	4	9	1	0	0	0	0	0	0	0	1	13939	1219	43	1		1	SCRN2	17	45915953	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1666977	45915953	35279257	774	1013										
SNX11	29916	broad.mit.edu	37	chr17	46198732	46198732	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaagtcccactctcccaccCctctcctcaccattatgctg	4	19	3	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.chr17:46198732C>A	ENST00000393405.2	+	8	1029	c.675C>A	c.(673-675)ccC>ccA	p.P225P	SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P|SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	225					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTCTCCCACCCCTCTCCTCAC	0.532																																						ENST00000393405.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(673-675)ccC>ccA		sorting nexin 11							145	132	137					17																	46198732		2203	4300	6503	SO:0001819	synonymous_variant	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198732C>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.675C>A	17.37:g.46198732C>A			Somatic				SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P|SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P	p.P225P	NM_152244.1	NP_689450.1	WXS	Illumina GAIIx	Phase_I	Q9Y5W9	SNX11_HUMAN			8	1029	+			225					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Silent	SNP	ENST00000393405.2	37	c.675C>A	CCDS11526.1																																																																																				0.532	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			7	297	7	297	---	---	---	---	A	46198732	C	A	46198732	2	1	9	1	0	0	0	0	0	0	0	1	14882	610	22	1		1	SNX11	17	46198732	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	282779	46198732	34996478	775	1014										
HOXB1	3211	broad.mit.edu	37	chr17	46608169	46608169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaccgcctgagccgagcttGggggaaaggaggttggggcg	19	9	0	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.chr17:46608169G>T	ENST00000239174.6	-	1	190	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	33					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						AGCCGAGCTTGGGGGAAAGGA	0.622																																						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.(97-99)cCa>cAa		homeobox B1							58	66	63					17																	46608169		2203	4298	6501	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608169G>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.98C>A	17.37:g.46608169G>T	ENSP00000355140:p.Pro33Gln		Somatic				HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	p.P33Q	NM_002144.3	NP_002135.2	WXS	Illumina GAIIx	Phase_I	P14653	HXB1_HUMAN			1	190	-			33					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.98C>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407240	0.11754	.	.	ENSG00000120094	ENST00000239174	D	0.89050	-2.46	5.17	3.17	0.36434	.	0.641545	0.13832	N	0.359644	D	0.84383	0.5460	L	0.49126	1.545	0.28264	N	0.924714	B	0.23735	0.09	B	0.22386	0.039	T	0.73509	-0.3960	10	0.30078	T	0.28	.	9.7593	0.40522	0.0733:0.0:0.7861:0.1406	.	33	P14653	HXB1_HUMAN	Q	33	ENSP00000355140:P33Q	ENSP00000355140:P33Q	P	-	2	0	HOXB1	43963168	0.289000	0.24334	0.546000	0.28166	0.297000	0.27493	3.195000	0.51013	0.752000	0.32923	-0.271000	0.10264	CCA		0.622	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			5	168	5	168	---	---	---	---	T	46608169	G	T	46608169	3	4	9	1	0	0	0	0	1	0	0	0	7299	1348	47	1	815	1	HOXB1	17	46608169	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	409437	46608169	34587041	776	1015										
COL1A1	1277	broad.mit.edu	37	chr17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccggtagtagcggccaccatCgtgagccttctcttgaggtg	13	12	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.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		Somatic					p.D1211N	NM_000088.3	NP_000079	WXS	Illumina GAIIx	Phase_I	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	45	122	---	---	---	---	T	48264184	C	T	48264184	3	4	9	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	1656015	48264184	32931026	777	1016										
SPAG9	9043	broad.mit.edu	37	chr17	49057226	49057226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacacgccatcccccaccCacgcaagctgtcgcacttgg	7	21	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.chr17:49057226C>A	ENST00000262013.7	-	26	3498	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L	SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1097					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)			ATCCCCCACCCACGCAAGCTG	0.473																																						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.(3289-3291)tGg>tTg		sperm associated antigen 9							178	144	156					17																	49057226		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.chr17:49057226C>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.3290G>T	17.37:g.49057226C>A	ENSP00000262013:p.Trp1097Leu		Somatic				SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L	p.W1097L	NM_001130528.2	NP_001124000.1	WXS	Illumina GAIIx	Phase_I	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		26	3498	-			1097					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3290G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403099	0.96030	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	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	0.62877	0.2464	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.986;0.984	D;D;D;D	0.68483	0.958;0.943;0.958;0.933	T	0.59445	-0.7453	10	0.11794	T	0.64	-6.1783	19.9144	0.97043	0.0:1.0:0.0:0.0	.	1087;1097;1083;940	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	L	1097;854;844;940;1087;1083;695	ENSP00000262013:W1097L;ENSP00000423165:W940L;ENSP00000426900:W1087L;ENSP00000349636:W1083L	ENSP00000262013:W1097L	W	-	2	0	SPAG9	46412225	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.440000	0.80464	2.716000	0.92895	0.491000	0.48974	TGG		0.473	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		4	155	4	155	---	---	---	---	A	49057226	C	A	49057226	3	1	9	1	0	0	0	0	1	0	0	0	14985	595	21	1	695	1	SPAG9	17	49057226	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	793042	49057226	32137984	778	1017										
C17orf67	339210	broad.mit.edu	37	chr17	54892322	54892322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcttctctgtcaaaatcgGggaggtctctggaaaagtcg	12	9	3	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.chr17:54892322G>T	ENST00000575658.1	-	6	1342	c.136C>A	c.(136-138)Ccg>Acg	p.P46T	C17orf67_ENST00000397861.2_Missense_Mutation_p.P22T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	46						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GTCAAAATCGGGGAGGTCTCT	0.522																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7						c.(64-66)Ccg>Acg		chromosome 17 open reading frame 67							226	227	227					17																	54892322		1887	4111	5998	SO:0001583	missense	339210					extracellular region		g.chr17:54892322G>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.136C>A	17.37:g.54892322G>T	ENSP00000461483:p.Pro46Thr		Somatic				C17orf67_ENST00000575658.1_Missense_Mutation_p.P46T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T	p.P22T			WXS	Illumina GAIIx	Phase_I	Q0P5P2	CQ067_HUMAN			6	1343	-	Breast(9;2.49e-06)		46						Missense_Mutation	SNP	ENST00000575658.1	37	c.64C>A		.	.	.	.	.	.	.	.	.	.	G	16.02	3.003762	0.54254	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.7	4.7	0.59300	.	0.000000	0.50627	U	0.000118	T	0.68054	0.2959	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72666	-0.4224	9	0.87932	D	0	-36.0562	17.986	0.89156	0.0:0.0:1.0:0.0	.	46	Q0P5P2	CQ067_HUMAN	T	46	.	ENSP00000380959:P46T	P	-	1	0	C17orf67	52247321	1.000000	0.71417	0.975000	0.42487	0.308000	0.27856	6.285000	0.72658	2.307000	0.77673	0.205000	0.17691	CCG		0.522	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		8	545	8	545	---	---	---	---	T	54892322	G	T	54892322	3	4	9	1	0	0	0	0	1	0	0	0	1875	1232	43	1	216	1	C17orf67	17	54892322	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5835096	54892322	26302888	779	1018										
CACNG5	27091	broad.mit.edu	37	chr17	64873579	64873579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggagggtgtgattgtgccCcagaaccagagcaccgagat	15	9	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.chr17:64873579C>A	ENST00000533854.1	+	2	366	c.129C>A	c.(127-129)ccC>ccA	p.P43P	CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	43					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)			TGATTGTGCCCCAGAACCAGA	0.622																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(127-129)ccC>ccA		calcium channel, voltage-dependent, gamma subunit 5							170	132	145					17																	64873579		2203	4300	6503	SO:0001819	synonymous_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.chr17:64873579C>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.129C>A	17.37:g.64873579C>A			Somatic				CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P	p.P43P			WXS	Illumina GAIIx	Phase_I	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		2	366	+			43					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.129C>A	CCDS11665.1																																																																																				0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		4	95	4	95	---	---	---	---	A	64873579	C	A	64873579	2	1	9	1	0	0	0	0	0	0	0	1	2560	610	22	1		1	CACNG5	17	64873579	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9981257	64873579	16321631	780	1019										
COG1	9382	broad.mit.edu	37	chr17	71197345	71197345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcagcaccagcaactcccCttcaaataagcacatccact	4	16	1	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.chr17:71197345C>A	ENST00000299886.4	+	7	1459	c.1379C>A	c.(1378-1380)cCt>cAt	p.P460H		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	460					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)			AGCAACTCCCCTTCAAATAAG	0.507																																						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.(1378-1380)cCt>cAt		component of oligomeric golgi complex 1							146	136	139					17																	71197345		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197345C>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.1379C>A	17.37:g.71197345C>A	ENSP00000299886:p.Pro460His		Somatic					p.P460H	NM_018714.2	NP_061184.1	WXS	Illumina GAIIx	Phase_I	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1459	+			460					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1379C>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	1.004	-0.689866	0.03328	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24908	1.83;1.84	4.85	2.69	0.31865	.	0.809698	0.12138	N	0.496116	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33826	0.0;0.427;0.0	B;B;B	0.31245	0.001;0.126;0.001	T	0.14364	-1.0475	10	0.41790	T	0.15	-1.4777	8.1832	0.31324	0.1554:0.7624:0.0:0.0822	.	460;460;460	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	H	460	ENSP00000400111:P460H;ENSP00000299886:P460H	ENSP00000299886:P460H	P	+	2	0	COG1	68708940	0.013000	0.17824	0.022000	0.16811	0.011000	0.07611	2.610000	0.46325	1.362000	0.46000	0.655000	0.94253	CCT		0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			6	296	6	296	---	---	---	---	A	71197345	C	A	71197345	3	1	9	1	0	0	0	0	1	0	0	0	3657	681	24	1	1405	1	COG1	17	71197345	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6323766	71197345	9997865	781	1020										
DNAI2	64446	broad.mit.edu	37	chr17	72285780	72285780	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacacacctctcctggcaccCcgatggcaacaggaagttgg	10	15	1	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.chr17:72285780C>A	ENST00000311014.6	+	5	582	c.515C>A	c.(514-516)cCc>cAc	p.P172H	DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000579490.1_Missense_Mutation_p.P229H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	172					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTGGCACCCCGATGGCAAC	0.582									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(685-687)cCc>cAc		dynein, axonemal, intermediate chain 2							57	56	56					17																	72285780		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285780C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.515C>A	17.37:g.72285780C>A	ENSP00000308312:p.Pro172His		Somatic				DNAI2_ENST00000311014.6_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H	p.P229H			WXS	Illumina GAIIx	Phase_I	Q9GZS0	DNAI2_HUMAN			4	821	+			172					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.686C>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315557	0.81469	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93685	0.7002	10	0.87932	D	0	-24.4836	18.3074	0.90187	0.0:1.0:0.0:0.0	.	172	Q9GZS0	DNAI2_HUMAN	H	172;29;172	ENSP00000308312:P172H;ENSP00000302929:P29H;ENSP00000400252:P172H	ENSP00000302929:P29H	P	+	2	0	DNAI2	69797375	1.000000	0.71417	0.935000	0.37517	0.781000	0.44180	7.077000	0.76814	2.333000	0.79357	0.313000	0.20887	CCC		0.582	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	69	4	69	---	---	---	---	A	72285780	C	A	72285780	3	1	9	1	0	0	0	0	1	0	0	0	4610	623	22	1	529	1	DNAI2	17	72285780	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1088435	72285780	8909430	782	1021										
NUP85	79902	broad.mit.edu	37	chr17	73204669	73204669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccaaatgtattttgactgGggtccaggggagatgctggt	14	6	0	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.chr17:73204669G>T	ENST00000245544.4	+	2	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	27					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)			ATTTTGACTGGGGTCCAGGGG	0.363																																						ENST00000245544.4																			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.(79-81)tgG>tgT		nucleoporin 85kDa							174	189	184					17																	73204669		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.chr17:73204669G>T	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.81G>T	17.37:g.73204669G>T	ENSP00000245544:p.Trp27Cys		Somatic				NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000447371.2_5'UTR	p.W27C	NM_024844.3	NP_079120.1	WXS	Illumina GAIIx	Phase_I	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	152	+	all_lung(278;0.14)|Lung NSC(278;0.168)		27					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.81G>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759406	0.49468	.	.	ENSG00000125450	ENST00000245544	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79617	-0.1729	9	0.87932	D	0	-5.0291	15.6851	0.77402	0.0:0.0:1.0:0.0	.	27	Q9BW27	NUP85_HUMAN	C	27	.	ENSP00000245544:W27C	W	+	3	0	NUP85	70716264	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.181000	0.77682	2.291000	0.77112	0.467000	0.42956	TGG		0.363	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		7	583	7	583	---	---	---	---	T	73204669	G	T	73204669	3	4	9	1	0	0	0	0	1	0	0	0	10770	1241	43	1	87	1	NUP85	17	73204669	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	918889	73204669	7990541	783	1022										
CANT1	124583	broad.mit.edu	37	chr17	76993250	76993250	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggtgggactccaggaccCcatggtctttgtcccattcc	10	15	1	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.chr17:76993250C>A	ENST00000302345.2	-	2	949	c.455G>T	c.(454-456)gGg>gTg	p.G152V	CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	152					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)			CTCCAGGACCCCATGGTCTTT	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.(454-456)gGg>gTg		calcium activated nucleotidase 1							146	144	145					17																	76993250		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.chr17:76993250C>A	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.455G>T	17.37:g.76993250C>A	ENSP00000307674:p.Gly152Val		Somatic				CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V	p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	WXS	Illumina GAIIx	Phase_I	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	949	-			152					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.455G>T	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	4.174	0.030841	0.08101	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.83419	-1.72;-1.72	5.27	0.114	0.14639	.	0.851710	0.10892	N	0.622592	T	0.53190	0.1781	N	0.00683	-1.26	0.18873	N	0.999988	B	0.02656	0.0	B	0.06405	0.002	T	0.46076	-0.9217	10	0.27082	T	0.32	0.596	8.3789	0.32459	0.1087:0.6862:0.0:0.205	.	152	Q8WVQ1	CANT1_HUMAN	V	152;152;152;101	ENSP00000307674:G152V;ENSP00000376241:G152V	ENSP00000307674:G152V	G	-	2	0	CANT1	74504845	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	0.218000	0.17622	-0.251000	0.09542	0.561000	0.74099	GGG		0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	403	7	403	---	---	---	---	A	76993250	C	A	76993250	3	1	9	1	0	0	0	0	1	0	0	0	2617	623	22	1	762	1	CANT1	17	76993250	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3788581	76993250	4201960	784	1023										
GAA	2548	broad.mit.edu	37	chr17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccggcagctggacggccgcGtgctgtgagttctgggctct	17	12	2	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		Somatic				GAA_ENST00000390015.3_Missense_Mutation_p.V230L	p.V230L	NM_000152.3	NP_000143.2	WXS	Illumina GAIIx	Phase_I	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	22	36	---	---	---	---	T	78079689	G	T	78079689	3	4	9	1	0	0	0	0	1	0	0	0	6147	1145	40	3	694	3	GAA	17	78079689	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1086439	78079689	3115521	785	1024										
RPTOR	57521	broad.mit.edu	37	chr17	78796034	78796034	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaacgacaggaggacgccCctgggtgaactgaactggat	14	10	0	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.chr17:78796034C>A	ENST00000306801.3	+	8	1286	c.924C>A	c.(922-924)ccC>ccA	p.P308P	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000537330.1_Silent_p.P123P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	308					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						GGAGGACGCCCCTGGGTGAAC	0.622																																						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.(922-924)ccC>ccA		regulatory associated protein of MTOR, complex 1							217	219	218					17																	78796034		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.chr17:78796034C>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.924C>A	17.37:g.78796034C>A			Somatic				RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P	p.P308P	NM_020761.2	NP_065812.1	WXS	Illumina GAIIx	Phase_I	Q8N122	RPTOR_HUMAN			8	1286	+			308					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.924C>A	CCDS11773.1																																																																																				0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		11	417	11	417	---	---	---	---	A	78796034	C	A	78796034	2	1	9	1	0	0	0	0	0	0	0	1	13665	610	22	1		1	RPTOR	17	78796034	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	716345	78796034	2399176	786	1025										
TSPAN10	83882	broad.mit.edu	37	chr17	79612297	79612297	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggggcctggctgtcaagGggtctctgggaagtgatctg	17	8	4	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.chr17:79612297G>T	ENST00000572675.1	+	0	316				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCTGTCAAGGGGTCTCTGGG	0.667																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							29	34	33					17																	79612297		1883	4105	5988			83882					integral to membrane		g.chr17:79612297G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612297G>T			Somatic				TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	WXS	Illumina GAIIx	Phase_I	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	406	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	G	15.77	2.932107	0.52866	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.79554	-1.28	4.3	2.24	0.28232	.	0.456661	0.22209	N	0.063128	D	0.85885	0.5801	M	0.75264	2.295	0.23003	N	0.99845	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.975	T	0.74429	-0.3668	10	0.66056	D	0.02	-12.771	5.8427	0.18643	0.2429:0.1406:0.6164:0.0	.	106;106	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	W	106	ENSP00000331620:G106W	ENSP00000331620:G106W	G	+	1	0	TSPAN10	77222702	1.000000	0.71417	0.739000	0.30968	0.853000	0.48598	2.937000	0.48979	1.026000	0.39733	0.462000	0.41574	GGG		0.667	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		5	116	5	116	---	---	---	---	T	79612297	G	T	79612297	1	4	9	0	1	0	0	0	0	0	0	0	16631	1232	43	1		1	TSPAN10	17	79612297	RNA	SNP	G	TCGA-CH-5739-01A-11D-1576-08	816263	79612297	1582913	787	1026										
LPIN2	9663	broad.mit.edu	37	chr18	2925282	2925282	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgtgctgccgtggctcagGggctctgtggggatggggtc	20	8	2	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.chr18:2925282G>T	ENST00000261596.4	-	14	2116	c.1878C>A	c.(1876-1878)ccC>ccA	p.P626P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	626					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGTGGCTCAGGGGCTCTGTGG	0.537																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(1876-1878)ccC>ccA		lipin 2							115	110	112					18																	2925282		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2925282G>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1878C>A	18.37:g.2925282G>T			Somatic					p.P626P	NM_014646.2	NP_055461.1	WXS	Illumina GAIIx	Phase_I	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	14	2116	-			626					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.1878C>A	CCDS11829.1																																																																																				0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		5	171	5	171	---	---	---	---	T	2925282	G	T	2925282	2	4	9	1	0	0	0	0	0	0	0	1	8919	1219	43	1		1	LPIN2	18	2925282	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08		2925282	75151966	788	1027										
MYOM1	8736	broad.mit.edu	37	chr18	3129449	3129449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaggcttcatgcacgcgccCcctggaggcggttagtccac	14	14	1	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.chr18:3129449C>A	ENST00000356443.4	-	18	2908	c.2575G>T	c.(2575-2577)Ggg>Tgg	p.G859W	MYOM1_ENST00000400569.3_Missense_Mutation_p.G859W|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	859					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						TGCACGCGCCCCCTGGAGGCG	0.557											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2575-2577)Ggg>Tgg		myomesin 1							103	107	106					18																	3129449		1973	4164	6137	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129449C>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.2575G>T	18.37:g.3129449C>A	ENSP00000348821:p.Gly859Trp		Somatic	OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Missense_Mutation_p.G859W	p.G859W			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			18	2908	-			859					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2575G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423630	0.43020	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.44482	0.92;0.93	5.69	4.82	0.62117	.	0.612384	0.16105	N	0.229355	T	0.44222	0.1283	N	0.19112	0.55	0.38530	D	0.948941	D	0.63880	0.993	P	0.55923	0.787	T	0.49643	-0.8918	10	0.56958	D	0.05	.	14.396	0.67010	0.0:0.9291:0.0:0.0709	.	859	P52179	MYOM1_HUMAN	W	859	ENSP00000348821:G859W;ENSP00000383413:G859W	ENSP00000348821:G859W	G	-	1	0	MYOM1	3119449	1.000000	0.71417	0.945000	0.38365	0.360000	0.29518	4.589000	0.61006	1.410000	0.46936	0.591000	0.81541	GGG		0.557	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	185	5	185	---	---	---	---	A	3129449	C	A	3129449	3	1	9	1	0	0	0	0	1	0	0	0	10091	623	22	1	2566	1	MYOM1	18	3129449	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	204167	3129449	74947799	789	1028										
KIAA0802	23255	broad.mit.edu	37	chr18	8819031	8819031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaagacggcaacgttcgccCctttccccaccagggaagcc	9	16	0	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.chr18:8819031C>A	ENST00000306329.11	+	11	3887	c.3887C>A	c.(3886-3888)cCc>cAc	p.P1296H	SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000359865.3_Missense_Mutation_p.P977H																							AACGTTCGCCCCTTTCCCCAC	0.527																																						ENST00000359865.3																			0											c.(2929-2931)cCc>cAc		SOGA family member 2							59	63	62					18																	8819031		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8819031C>A																												ENST00000306329.11:c.3887C>A	18.37:g.8819031C>A	ENSP00000305027:p.Pro1296His		Somatic				SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1296H|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H	p.P977H	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			13	3072	+			1287						Missense_Mutation	SNP	ENST00000306329.11	37	c.2930C>A		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471414	0.63737	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.40756	1.02;1.02;1.02	5.96	3.84	0.44239	.	0.132042	0.35495	N	0.003162	T	0.44829	0.1312	L	0.54323	1.7	0.09310	N	0.999998	D	0.53885	0.963	P	0.50378	0.639	T	0.34875	-0.9811	10	0.56958	D	0.05	-14.0224	8.8447	0.35164	0.125:0.7297:0.0:0.1453	.	977	Q9Y4B5-3	.	H	998;936;977;936	ENSP00000429556:P936H;ENSP00000352927:P977H;ENSP00000382924:P936H	ENSP00000305027:P998H	P	+	2	0	CCDC165	8809031	0.432000	0.25554	0.481000	0.27354	0.301000	0.27625	1.603000	0.36794	1.492000	0.48499	0.655000	0.94253	CCC		0.527	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			6	152	6	152	---	---	---	---	A	8819031	C	A	8819031	3	1	9	1	0	0	0	0	1	0	0	0	8194	623	22	1	2972	1	KIAA0802	18	8819031	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5689582	8819031	69258217	790	1029										
CDH2	1000	broad.mit.edu	37	chr18	25565614	25565614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtaatattaattgaattgGggtctggagtttcgcaagtc	11	5	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.chr18:25565614G>T	ENST00000269141.3	-	12	2276	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	618	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						AATTGAATTGGGGTCTGGAGT	0.388																																						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.(1852-1854)cCc>cAc		cadherin 2, type 1, N-cadherin (neuronal)							100	100	100					18																	25565614		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.chr18:25565614G>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.1853C>A	18.37:g.25565614G>T	ENSP00000269141:p.Pro618His		Somatic				CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	p.P618H	NM_001792.3	NP_001783.2	WXS	Illumina GAIIx	Phase_I	P19022	CADH2_HUMAN			12	2276	-			618			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1853C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969101	0.74131	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.54071	0.59;0.59	5.96	5.96	0.96718	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.865;0.999	T	0.68762	-0.5323	10	0.49607	T	0.09	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	587;618	A8MWK3;P19022	.;CADH2_HUMAN	H	618;587	ENSP00000269141:P618H;ENSP00000382312:P587H	ENSP00000269141:P618H	P	-	2	0	CDH2	23819612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.830000	0.97506	0.585000	0.79938	CCC		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		6	208	6	208	---	---	---	---	T	25565614	G	T	25565614	3	4	9	1	0	0	0	0	1	0	0	0	3105	1232	43	1	887	1	CDH2	18	25565614	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	16746583	25565614	52511634	791	1030										
DTNA	1837	broad.mit.edu	37	chr18	32438306	32438306	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgaacaagcttctcagccCacgccagagaaggcacagca	9	14	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.chr18:32438306C>A	ENST00000399113.3	+	15	1509	c.1509C>A	c.(1507-1509)ccC>ccA	p.P503P	DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000283365.9_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269192.7_Silent_p.P212P			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	503					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						CTTCTCAGCCCACGCCAGAGA	0.517																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1336-1338)ccC>ccA		dystrobrevin, alpha							68	66	66					18																	32438306		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438306C>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.1509C>A	18.37:g.32438306C>A			Somatic				DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399113.3_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P	p.P446P	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			15	1689	+			503			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1338C>A	CCDS59311.1																																																																																				0.517	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	75	4	75	---	---	---	---	A	32438306	C	A	32438306	2	1	9	1	0	0	0	0	0	0	0	1	4788	581	21	1		1	DTNA	18	32438306	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6872692	32438306	45638942	792	1031										
ZBTB7C	201501	broad.mit.edu	37	chr18	45566869	45566869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagtcagggaagtccctggGggtgtctgaataggccttct	16	8	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.chr18:45566869G>T	ENST00000588982.1	-	3	1111	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	204							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						AAGTCCCTGGGGGTGTCTGAA	0.567																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(610-612)Ccc>Acc		zinc finger and BTB domain containing 7C							90	88	88					18																	45566869		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566869G>T	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.610C>A	18.37:g.45566869G>T	ENSP00000468782:p.Pro204Thr		Somatic				ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T	p.P204T			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	1111	-			204					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.610C>A	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906989	0.33628	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.11712	2.75;2.75	5.18	5.18	0.71444	.	0.325687	0.32753	N	0.005686	T	0.09686	0.0238	N	0.19112	0.55	0.36979	D	0.894223	B;B;B	0.25105	0.063;0.118;0.118	B;B;B	0.19666	0.026;0.026;0.026	T	0.17258	-1.0375	10	0.54805	T	0.06	.	18.6567	0.91456	0.0:0.0:1.0:0.0	.	204;204;204	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	T	204	ENSP00000439781:P204T;ENSP00000328732:P204T	ENSP00000328732:P204T	P	-	1	0	ZBTB7C	43820867	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	6.931000	0.75863	2.407000	0.81776	0.491000	0.48974	CCC		0.567	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		5	169	5	169	---	---	---	---	T	45566869	G	T	45566869	3	4	9	1	0	0	0	0	1	0	0	0	17552	1232	43	1	1257	1	ZBTB7C	18	45566869	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	13128563	45566869	32510379	793	1032										
KIAA0427	9811	broad.mit.edu	37	chr18	46284729	46284729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggagcggcccaaaattaccCtgctccagtcttccaaagac	9	14	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.chr18:46284729C>A	ENST00000256413.3	+	8	1319	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	342					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAAAATTACCCTGCTCCAGTC	0.537																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1024-1026)Ctg>Atg		CBP80/20-dependent translation initiation factor							152	179	170					18																	46284729		2199	4294	6493	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284729C>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1024C>A	18.37:g.46284729C>A	ENSP00000256413:p.Leu342Met		Somatic				CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	p.L342M	NM_014772.2	NP_055587.1	WXS	Illumina GAIIx	Phase_I	O43310	CTIF_HUMAN			8	1319	+			342					B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1024C>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604681	0.66445	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.70986	-0.53;-0.08	5.51	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.76919	0.4055	L	0.55481	1.735	0.41468	D	0.988085	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	T	0.77965	-0.2389	10	0.72032	D	0.01	-7.3569	6.1263	0.20182	0.0:0.8011:0.0:0.1989	.	342;342	O43310-2;O43310	.;CTIF_HUMAN	M	342;342;294	ENSP00000256413:L342M;ENSP00000372459:L342M	ENSP00000256413:L342M	L	+	1	2	CTIF	44538727	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.900000	0.39828	2.584000	0.87258	0.561000	0.74099	CTG		0.537	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		8	495	8	495	---	---	---	---	A	46284729	C	A	46284729	3	1	9	1	0	0	0	0	1	0	0	0	8176	680	24	1	1050	1	KIAA0427	18	46284729	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	717860	46284729	31792519	794	1033										
MBD2	8932	broad.mit.edu	37	chr18	51690931	51690931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaataaaagctttgcagagGggttgagatgtgttaagcca	12	5	0	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.chr18:51690931G>T	ENST00000256429.3	-	5	1299	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	357					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CTTTGCAGAGGGGTTGAGATG	0.438																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1069-1071)ccC>ccA		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						138	130	133					18																	51690931		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51690931G>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1071C>A	18.37:g.51690931G>T			Somatic					p.P357P	NM_003927.4	NP_003918.1	WXS	Illumina GAIIx	Phase_I	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	5	1299	-			357					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1071C>A	CCDS11953.1																																																																																				0.438	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		7	165	7	165	---	---	---	---	T	51690931	G	T	51690931	2	4	9	1	0	0	0	0	0	0	0	1	9343	1219	43	1		1	MBD2	18	51690931	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5406202	51690931	26386317	795	1034										
MC4R	4160	broad.mit.edu	37	chr18	58038857	58038857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggtcaaggtaatcgctccCttcatattggcaccttggcg	10	11	2	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.chr18:58038857C>A	ENST00000299766.3	-	1	1144	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	242					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)				TAATCGCTCCCTTCATATTGG	0.502																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(724-726)aaG>aaT		melanocortin 4 receptor							80	73	76					18																	58038857		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.chr18:58038857C>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.726G>T	18.37:g.58038857C>A	ENSP00000299766:p.Lys242Asn		Somatic					p.K242N	NM_005912.2	NP_005903.2	WXS	Illumina GAIIx	Phase_I	P32245	MC4R_HUMAN			1	1144	-		Colorectal(73;0.0946)	242					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.726G>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455800	0.43634	.	.	ENSG00000166603	ENST00000299766	T	0.42900	0.96	5.85	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	H	0.94620	3.56	0.58432	D	0.999992	D	0.76494	0.999	D	0.76071	0.987	T	0.73421	-0.3988	10	0.87932	D	0	.	8.1537	0.31156	0.0:0.7575:0.0:0.2425	.	242	P32245	MC4R_HUMAN	N	242	ENSP00000299766:K242N	ENSP00000299766:K242N	K	-	3	2	MC4R	56189837	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	2.015000	0.40961	0.831000	0.34780	-0.150000	0.13652	AAG		0.502	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		6	106	6	106	---	---	---	---	A	58038857	C	A	58038857	3	1	9	1	0	0	0	0	1	0	0	0	9366	680	24	1	276	1	MC4R	18	58038857	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6347926	58038857	20038391	796	1035										
SERPINB12	89777	broad.mit.edu	37	chr18	61223488	61223488	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaacatatttttctctccCctgagcctctcagctgccct	4	15	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.chr18:61223488C>A	ENST00000269491.1	+	1	96	c.96C>A	c.(94-96)ccC>ccA	p.P32P	SERPINB12_ENST00000382768.1_Silent_p.P32P	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	32					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)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTCTCTCCCCTGAGCCTCT	0.438																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(94-96)ccC>ccA		serpin peptidase inhibitor, clade B (ovalbumin), member 12							226	214	218					18																	61223488		2203	4300	6503	SO:0001819	synonymous_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61223488C>A	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.96C>A	18.37:g.61223488C>A			Somatic				SERPINB12_ENST00000269491.1_Silent_p.P32P	p.P32P			WXS	Illumina GAIIx	Phase_I	Q96P63	SPB12_HUMAN			1	96	+			32					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.96C>A	CCDS11984.1																																																																																				0.438	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		8	470	8	470	---	---	---	---	A	61223488	C	A	61223488	2	1	9	1	0	0	0	0	0	0	0	1	14099	610	22	1		1	SERPINB12	18	61223488	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3184631	61223488	16853760	797	1036										
ADNP2	22850	broad.mit.edu	37	chr18	77894468	77894468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttggaactagtgtcctccCcataaatcagactgttcgcc	8	12	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.chr18:77894468C>A	ENST00000262198.4	+	4	1627	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	391	Pro-rich.				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)			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)		AGTGTCCTCCCCATAAATCAG	0.542																																						ENST00000262198.4																			0				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.(1171-1173)cCc>cAc		ADNP homeobox 2							89	87	87					18																	77894468		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.chr18:77894468C>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.1172C>A	18.37:g.77894468C>A	ENSP00000262198:p.Pro391His		Somatic					p.P391H	NM_014913.3	NP_055728.1	WXS	Illumina GAIIx	Phase_I	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	1627	+		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)	391			Pro-rich.		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1172C>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369712	0.42003	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000035	T	0.63838	0.2545	L	0.27053	0.805	0.39469	D	0.967697	D	0.89917	1.0	D	0.76575	0.988	T	0.63225	-0.6685	8	.	.	.	-17.8511	16.1789	0.81887	0.0:1.0:0.0:0.0	.	391	Q6IQ32	ADNP2_HUMAN	H	391	.	.	P	+	2	0	ADNP2	75995459	0.648000	0.27313	0.821000	0.32701	0.683000	0.39861	2.697000	0.47060	2.475000	0.83589	0.650000	0.86243	CCC		0.542	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		6	206	6	206	---	---	---	---	A	77894468	C	A	77894468	3	1	9	1	0	0	0	0	1	0	0	0	324	623	22	1	1182	1	ADNP2	18	77894468	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	16670980	77894468	182780	798	1037										
CDC34	997	broad.mit.edu	37	chr19	537038	537038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctcctgagtgtgatctccCtcctgaacgagcccaacacc	7	16	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.chr19:537038C>A	ENST00000215574.4	+	4	606	c.388C>A	c.(388-390)Ctc>Atc	p.L130I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	130					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		TGTGATCTCCCTCCTGAACGA	0.627																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(388-390)Ctc>Atc		cell division cycle 34							136	105	115					19																	537038		2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537038C>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"Ubiquitin-conjugating enzymes E2"	1734	protein-coding gene	gene with protein product		116948	"cell division cycle 34", "cell division cycle 34 homolog (S. cerevisiae)"			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.388C>A	19.37:g.537038C>A	ENSP00000215574:p.Leu130Ile		Somatic					p.L130I	NM_004359.1	NP_004350.1	WXS	Illumina GAIIx	Phase_I	P49427	UB2R1_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	606	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)	130					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.388C>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301603	0.60195	.	.	ENSG00000099804	ENST00000215574	T	0.58210	0.35	5.15	5.15	0.70609	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.75510	0.3859	M	0.86343	2.81	0.80722	D	1	P	0.50443	0.935	D	0.65323	0.934	T	0.78201	-0.2296	10	0.46703	T	0.11	-5.8793	17.6379	0.88128	0.0:1.0:0.0:0.0	.	130	P49427	UB2R1_HUMAN	I	130	ENSP00000215574:L130I	ENSP00000215574:L130I	L	+	1	0	CDC34	488038	0.995000	0.38212	0.769000	0.31535	0.012000	0.07955	3.222000	0.51223	2.395000	0.81488	0.591000	0.81541	CTC		0.627	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		4	91	4	91	---	---	---	---	A	537038	C	A	537038	3	1	9	1	0	0	0	0	1	0	0	0	3067	681	24	1	402	1	CDC34	19	537038	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		537038	58591945	799	1038										
TICAM1	148022	broad.mit.edu	37	chr19	4816548	4816548	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagggtggcggggctcccagGggcacctggcccccaaaggg	18	13	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.chr19:4816548G>T	ENST00000248244.5	-	2	2071	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	614	Pro-rich.|Sufficient to induce apoptosis.				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)		GGGCTCCCAGGGGCACCTGGC	0.701																																						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.(1840-1842)ccC>ccA		toll-like receptor adaptor molecule 1							20	22	21					19																	4816548		2203	4299	6502	SO:0001819	synonymous_variant	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.chr19:4816548G>T	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.1842C>A	19.37:g.4816548G>T			Somatic					p.P614P	NM_182919.3	NP_891549.1	WXS	Illumina GAIIx	Phase_I	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2071	-			614			Pro-rich.|Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	c.1842C>A	CCDS12136.1																																																																																				0.701	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		4	34	4	34	---	---	---	---	T	4816548	G	T	4816548	2	4	9	1	0	0	0	0	0	0	0	1	15889	1219	43	1		1	TICAM1	19	4816548	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	4279510	4816548	54312435	800	1039										
PTPRS	5802	broad.mit.edu	37	chr19	5218485	5218485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggtccttggggtggtgagGggcgaggtcggcattgttca	20	6	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.chr19:5218485G>T	ENST00000587303.1	-	24	4093	c.3994C>A	c.(3994-3996)Cct>Act	p.P1332T	PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1333T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1332					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)	GGGTGGTGAGGGGCGAGGTCG	0.537																																						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.(3997-3999)Cct>Act		protein tyrosine phosphatase, receptor type, S							236	213	220					19																	5218485		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218485G>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.3994C>A	19.37:g.5218485G>T	ENSP00000467537:p.Pro1332Thr		Somatic				PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1332T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T	p.P1333T			WXS	Illumina GAIIx	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4230	-			1332					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3997C>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088566	0.36855	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54071	0.81;0.8;0.71;0.59;0.67	4.3	4.3	0.51218	.	0.337088	0.23192	U	0.050884	T	0.64193	0.2576	L	0.41236	1.265	0.80722	D	1	P;B;D;B;D;D	0.89917	0.553;0.214;0.999;0.01;0.984;1.0	B;B;D;B;P;D	0.91635	0.373;0.138;0.982;0.022;0.77;0.999	T	0.62129	-0.6919	10	0.33940	T	0.23	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	914;901;905;1310;1332;927	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	T	927;1333;1332;1332;1323;1328;1310;914;905;901	ENSP00000361489:P1333T;ENSP00000349932:P1332T;ENSP00000262963:P1328T;ENSP00000269907:P1310T;ENSP00000327313:P901T	ENSP00000262963:P1328T	P	-	1	0	PTPRS	5169485	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.264000	0.78432	2.232000	0.73038	0.561000	0.74099	CCT		0.537	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	493	8	493	---	---	---	---	T	5218485	G	T	5218485	3	4	9	1	0	0	0	0	1	0	0	0	12811	1232	43	1	1908	1	PTPRS	19	5218485	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	401937	5218485	53910498	801	1040										
ZNF358	140467	broad.mit.edu	37	chr19	7584157	7584157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtcctggtcaggaaccCaggccacaaaggcctgagac	11	14	2	1	rs372789030		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.chr19:7584157C>A	ENST00000597229.1	+	2	199	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	10					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|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)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GTCAGGAACCCAGGCCACAAA	0.582																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(28-30)cCa>cAa		zinc finger protein 358		C	GLN/PRO	1,4305		0,1,2152	63	71	68		29	3.7	1	19		68	0,8536		0,0,4268	no	missense	ZNF358	NM_018083.4	76	0,1,6420	AA,AC,CC		0.0,0.0232,0.0078	probably-damaging	10/569	7584157	1,12841	2153	4268	6421	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584157C>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.29C>A	19.37:g.7584157C>A	ENSP00000472305:p.Pro10Gln		Somatic				ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	p.P10Q	NM_018083.4	NP_060553.4	WXS	Illumina GAIIx	Phase_I	Q9NW07	ZN358_HUMAN			2	199	+			10					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.29C>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708548	0.68615	2.32E-4	0.0	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.09817	2.94	4.73	3.7	0.42460	.	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.27256	N	0.958762	D	0.65815	0.995	P	0.60886	0.88	T	0.14811	-1.0459	9	0.52906	T	0.07	-5.8584	5.9813	0.19409	0.0:0.7026:0.1959:0.1014	.	10	Q9NW07	ZN358_HUMAN	Q	10	ENSP00000377873:P10Q	ENSP00000354703:P10Q	P	+	2	0	ZNF358	7490157	0.000000	0.05858	0.993000	0.49108	0.901000	0.52897	0.091000	0.15046	2.578000	0.87016	0.558000	0.71614	CCA		0.582	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			5	168	5	168	---	---	---	---	A	7584157	C	A	7584157	3	1	9	1	0	0	0	0	1	0	0	0	17864	594	21	1	31	1	ZNF358	19	7584157	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2365672	7584157	51544826	802	1041										
SNAPC2	6618	broad.mit.edu	37	chr19	7987016	7987016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctttgctcctgagcgccCctggaggacaggaagacccc	12	15	0	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.chr19:7987016C>A	ENST00000221573.6	+	4	520	c.469C>A	c.(469-471)Cct>Act	p.P157T	SNAPC2_ENST00000595035.1_3'UTR|CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000597584.1_De_novo_Start_OutOfFrame	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	157					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAGCGCCCCTGGAGGACA	0.662																																						ENST00000597584.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6								small nuclear RNA activating complex, polypeptide 2, 45kDa							87	95	92					19																	7987016		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987016C>A	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.469C>A	19.37:g.7987016C>A	ENSP00000221573:p.Pro157Thr		Somatic				SNAPC2_ENST00000221573.6_Missense_Mutation_p.P157T|SNAPC2_ENST00000595035.1_3'UTR				WXS	Illumina GAIIx	Phase_I	Q13487	SNPC2_HUMAN			0	391	+								B2RBZ6|D6W663|Q13486	Translation_Start_Site	SNP	ENST00000221573.6	37		CCDS12190.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.552869	0.27739	.	.	ENSG00000104976	ENST00000221573	T	0.46451	0.87	4.33	-2.25	0.06888	.	0.721951	0.11700	N	0.538109	T	0.32704	0.0838	M	0.62723	1.935	0.09310	N	1	B	0.21071	0.051	B	0.20577	0.03	T	0.37478	-0.9704	10	0.54805	T	0.06	-0.0504	2.7295	0.05223	0.321:0.3482:0.0:0.3307	.	157	Q13487	SNPC2_HUMAN	T	157	ENSP00000221573:P157T	ENSP00000221573:P157T	P	+	1	0	SNAPC2	7893016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.374000	0.07484	-0.135000	0.11495	0.550000	0.68814	CCT		0.662	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		6	190	6	190	---	---	---	---	A	7987016	C	A	7987016	3	1	9	1	0	0	0	0	1	0	0	0	14835	623	22	1	483	1	SNAPC2	19	7987016	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	402859	7987016	51141967	803	1042										
FBN3	84467	broad.mit.edu	37	chr19	8152723	8152723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctacctcgacacatggccCcatcctcccgcagggtgtag	10	17	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.chr19:8152723C>A	ENST00000600128.1	-	53	7019	c.6605G>T	c.(6604-6606)gGg>gTg	p.G2202V	FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V			Q75N90	FBN3_HUMAN	fibrillin 3	2202	EGF-like 35; 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						aCACATGGCCCCATCCTCCCG	0.562																																						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.(6604-6606)gGg>gTg		fibrillin 3							104	105	105					19																	8152723		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152723C>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.6605G>T	19.37:g.8152723C>A	ENSP00000470498:p.Gly2202Val		Somatic				FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V	p.G2202V			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			53	7019	-			2202			EGF-like 35; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6605G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406088	0.42715	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.89617	-2.54	4.52	4.52	0.55395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.501056	0.19099	U	0.122756	D	0.95853	0.8650	H	0.95365	3.66	0.47737	D	0.999509	D;D	0.71674	0.996;0.998	D;D	0.64595	0.926;0.927	D	0.96129	0.9091	10	0.39692	T	0.17	.	17.6164	0.88068	0.0:1.0:0.0:0.0	.	2202;308	Q75N90;Q6ZNB8	FBN3_HUMAN;.	V	2202;308	ENSP00000270509:G2202V	ENSP00000270509:G2202V	G	-	2	0	FBN3	8058723	0.001000	0.12720	0.820000	0.32676	0.447000	0.32167	1.277000	0.33167	2.231000	0.72958	0.313000	0.20887	GGG		0.562	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	168	5	168	---	---	---	---	A	8152723	C	A	8152723	3	1	9	1	0	0	0	0	1	0	0	0	5704	623	22	1	1872	1	FBN3	19	8152723	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	165707	8152723	50976260	804	1043										
MUC16	94025	broad.mit.edu	37	chr19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtattctccttccttcttccGccggcgggtggtcacctatg	10	14	3	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.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		Somatic				MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	p.R14481W	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	8	17	---	---	---	---	A	8959691	G	A	8959691	3	1	9	1	0	0	0	0	1	0	0	0	9973	1086	38	2	86	2	MUC16	19	8959691	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	806968	8959691	50169292	805	1044										
MUC16	94025	broad.mit.edu	37	chr19	9065764	9065764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctagtctccaagaagtgagGggttgatatggcaacagttg	14	6	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.chr19:9065764G>T	ENST00000397910.4	-	3	21885	c.21682C>A	c.(21682-21684)Cct>Act	p.P7228T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7230	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						AAGAAGTGAGGGGTTGATATG	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.(21682-21684)Cct>Act		mucin 16, cell surface associated							216	202	207					19																	9065764		2000	4169	6169	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065764G>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.21682C>A	19.37:g.9065764G>T	ENSP00000381008:p.Pro7228Thr		Somatic					p.P7228T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	21885	-			7230			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21682C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.021	0.001423	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.30981	1.51	2.8	-2.5	0.06384	.	.	.	.	.	T	0.24470	0.0593	L	0.31926	0.97	.	.	.	P	0.44659	0.84	P	0.47941	0.562	T	0.28681	-1.0036	8	0.87932	D	0	.	3.478	0.07591	0.3885:0.199:0.4125:0.0	.	7228	B5ME49	.	T	7228	ENSP00000381008:P7228T	ENSP00000381008:P7228T	P	-	1	0	MUC16	8926764	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.687000	0.00833	-0.354000	0.08212	0.195000	0.17529	CCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	369	7	369	---	---	---	---	T	9065764	G	T	9065764	3	4	9	1	0	0	0	0	1	0	0	0	9973	1232	43	1	22169	1	MUC16	19	9065764	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	106073	9065764	50063219	806	1045										
MUC16	94025	broad.mit.edu	37	chr19	9071802	9071802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcagtaatagtaccagtgGggactttggaaagtagaaaa	11	6	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.chr19:9071802G>T	ENST00000397910.4	-	3	15847	c.15644C>A	c.(15643-15645)cCc>cAc	p.P5215H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5217	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						AGTACCAGTGGGGACTTTGGA	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.(15643-15645)cCc>cAc		mucin 16, cell surface associated							164	157	159					19																	9071802		1918	4124	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071802G>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.15644C>A	19.37:g.9071802G>T	ENSP00000381008:p.Pro5215His		Somatic					p.P5215H	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	15847	-			5217			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15644C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.271	-0.149078	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.66	1.66	0.24008	.	.	.	.	.	T	0.05456	0.0144	L	0.48642	1.525	.	.	.	D	0.53462	0.96	P	0.46758	0.526	T	0.23404	-1.0189	8	0.87932	D	0	.	6.825	0.23878	0.0:0.0:1.0:0.0	.	5215	B5ME49	.	H	5215	ENSP00000381008:P5215H	ENSP00000381008:P5215H	P	-	2	0	MUC16	8932802	0.000000	0.05858	0.012000	0.15200	0.026000	0.11368	0.285000	0.18883	1.237000	0.43756	0.449000	0.29647	CCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	318	6	318	---	---	---	---	T	9071802	G	T	9071802	3	4	9	1	0	0	0	0	1	0	0	0	9973	1232	43	1	28207	1	MUC16	19	9071802	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6038	9071802	50057181	807	1046										
DNMT1	1786	broad.mit.edu	37	chr19	10260302	10260302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggcgtgaaacatctgccCgttgctgctgtcctcccaca	11	14	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.chr19:10260302C>A	ENST00000340748.4	-	25	2600	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W|DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	789	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)			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)	AACATCTGCCCGTTGCTGCTG	0.582																																						ENST00000340748.4																			0				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.(2365-2367)Ggg>Tgg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						128	132	130					19																	10260302		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.chr19:10260302C>A	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.2365G>T	19.37:g.10260302C>A	ENSP00000345739:p.Gly789Trp		Somatic				DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W	p.G789W			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		25	2600	-			789			BAH 1.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2365G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276915	0.80580	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.86297	-2.1;-2.1;-2.1	5.82	4.79	0.61399	Bromo adjacent homology (BAH) domain (3);	0.230104	0.43110	D	0.000607	D	0.93400	0.7895	M	0.82630	2.6	0.46241	D	0.998946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94044	0.7312	10	0.66056	D	0.02	.	13.9099	0.63860	0.0:0.926:0.0:0.074	.	789;805;789	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	W	805;789;789;657	ENSP00000352516:G805W;ENSP00000440457:G789W;ENSP00000345739:G789W	ENSP00000345739:G789W	G	-	1	0	DNMT1	10121302	0.992000	0.36948	0.486000	0.27416	0.787000	0.44495	5.747000	0.68689	1.474000	0.48178	0.655000	0.94253	GGG		0.582	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	306	6	306	---	---	---	---	A	10260302	C	A	10260302	3	1	9	1	0	0	0	0	1	0	0	0	4675	652	23	1	2549	1	DNMT1	19	10260302	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1188500	10260302	48868681	808	1047										
ZGLP1	100125288	broad.mit.edu	37	chr19	10418870	10418870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggcccctacctgtacgtgGggatgatctgcaggctggag	15	12	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.chr19:10418870G>T	ENST00000403903.3	-	1	1686	c.488C>A	c.(487-489)cCc>cAc	p.P163H	ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	163					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|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)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CCTGTACGTGGGGATGATCTG	0.632																																						ENST00000403903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						c.(487-489)cCc>cAc		zinc finger, GATA-like protein 1							47	52	50					19																	10418870		1959	4144	6103	SO:0001583	missense	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10418870G>T	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.488C>A	19.37:g.10418870G>T	ENSP00000384434:p.Pro163His		Somatic				ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	p.P163H	NM_001103167.1	NP_001096637.1	WXS	Illumina GAIIx	Phase_I	P0C6A0	ZGLP1_HUMAN			1	1686	-			163						Missense_Mutation	SNP	ENST00000403903.3	37	c.488C>A	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	G	8.207	0.799518	0.16397	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.98437	-4.93;-4.92	4.78	3.72	0.42706	.	.	.	.	.	D	0.94981	0.8376	L	0.29908	0.895	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	D	0.92223	0.5786	9	0.39692	T	0.17	-7.6993	10.3914	0.44171	0.0:0.0:0.7909:0.2091	.	163	P0C6A0	ZGLP1_HUMAN	H	163;79	ENSP00000384434:P163H;ENSP00000385403:P79H	ENSP00000385403:P79H	P	-	2	0	ZGLP1	10279870	1.000000	0.71417	0.882000	0.34594	0.192000	0.23643	2.200000	0.42724	1.099000	0.41499	0.561000	0.74099	CCC		0.632	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		5	168	5	168	---	---	---	---	T	10418870	G	T	10418870	3	4	9	1	0	0	0	0	1	0	0	0	17670	1232	43	1	343	1	ZGLP1	19	10418870	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	158568	10418870	48710113	809	1048										
ILF3	3609	broad.mit.edu	37	chr19	10799884	10799884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagtcgaactacaactccCcggggtccggccagaactac	9	16	0	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.chr19:10799884C>A	ENST00000590261.1	+	19	2581	c.2581C>A	c.(2581-2583)Ccg>Acg	p.P861T	ILF3_ENST00000449870.1_Missense_Mutation_p.P865T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	861	Interaction with PRMT1.				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)			CTACAACTCCCCGGGGTCCGG	0.612																																						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.(2593-2595)Ccg>Acg		interleukin enhancer binding factor 3, 90kDa							130	140	137					19																	10799884		2203	4300	6503	SO:0001583	missense	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.chr19:10799884C>A	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.2581C>A	19.37:g.10799884C>A	ENSP00000468156:p.Pro861Thr		Somatic				ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.P861T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T	p.P865T	NM_017620.2	NP_060090.2	WXS	Illumina GAIIx	Phase_I	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2910	+			861			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2593C>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369090	0.61624	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14391	2.51;2.51	5.32	5.32	0.75619	.	0.188319	0.46442	D	0.000289	T	0.15305	0.0369	N	0.14661	0.345	0.80722	D	1	P;P	0.50819	0.939;0.9	P;B	0.49708	0.62;0.415	T	0.02464	-1.1155	10	0.72032	D	0.01	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	865;861	G5E9M5;Q12906	.;ILF3_HUMAN	T	865;861	ENSP00000404121:P865T;ENSP00000315205:P861T	ENSP00000315205:P861T	P	+	1	0	ILF3	10660884	1.000000	0.71417	0.984000	0.44739	0.906000	0.53458	6.495000	0.73665	2.767000	0.95098	0.655000	0.94253	CCG		0.612	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	272	7	272	---	---	---	---	A	10799884	C	A	10799884	3	1	9	1	0	0	0	0	1	0	0	0	7712	623	22	1	2739	1	ILF3	19	10799884	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	381014	10799884	48329099	810	1049										
DNM2	1785	broad.mit.edu	37	chr19	10935779	10935779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacaccttctccatggaccCccaactggagcggcaggtgg	12	14	1	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.chr19:10935779C>A	ENST00000355667.6	+	18	2020	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000314646.5_Missense_Mutation_p.P647H	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	647					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)			TCCATGGACCCCCAACTGGAG	0.602			"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.(1939-1941)cCc>cAc		dynamin 2							105	96	99					19																	10935779		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.chr19:10935779C>A		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.1940C>A	19.37:g.10935779C>A	ENSP00000347890:p.Pro647His		Somatic				DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000355667.6_Missense_Mutation_p.P647H	p.P647H			WXS	Illumina GAIIx	Phase_I	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		18	2104	+			647					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1940C>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059421	0.76074	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.94184	-3.37;-3.35;-3.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97430	0.9159	M	0.91717	3.235	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	0.993;0.997;0.995;0.992;0.99;0.992;0.942	D	0.98319	1.0527	10	0.87932	D	0	-0.9157	17.6598	0.88189	0.0:1.0:0.0:0.0	.	241;647;376;643;643;647;647	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	H	643;643;647;647;647;254	ENSP00000386192:P643H;ENSP00000373905:P647H;ENSP00000313164:P647H	ENSP00000313164:P647H	P	+	2	0	DNM2	10796779	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.708000	0.84633	2.467000	0.83353	0.563000	0.77884	CCC		0.602	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	108	5	108	---	---	---	---	A	10935779	C	A	10935779	3	1	9	1	0	0	0	0	1	0	0	0	4672	623	22	1	2153	1	DNM2	19	10935779	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	135895	10935779	48193204	811	1050										
ZNF763	284390	broad.mit.edu	37	chr19	12088995	12088995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgtggagaaacttttaccCaggttccagatgacaggctg	11	8	0	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.chr19:12088995C>A	ENST00000358987.3	+	4	383	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000343949.5_Missense_Mutation_p.Q89K|ZNF763_ENST00000545530.1_5'UTR			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						AACTTTTACCCAGGTTCCAGA	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(265-267)Cag>Aag		zinc finger protein 763							108	114	112					19																	12088995		2202	4298	6500	SO:0001583	missense	284390							g.chr19:12088995C>A	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.256C>A	19.37:g.12088995C>A	ENSP00000402017:p.Gln86Lys		Somatic				ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q86K|ZNF763_ENST00000591944.1_3'UTR	p.Q89K	NM_001012753.1	NP_001012771.1	WXS	Illumina GAIIx	Phase_I					4	420	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.265C>A		.	.	.	.	.	.	.	.	.	.	c	7.618	0.676312	0.14841	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.05382	3.47;3.46;3.45	0.864	-0.271	0.12922	Krueppel-associated box (1);	.	.	.	.	T	0.03827	0.0108	N	0.25201	0.72	0.09310	N	0.999999	B;B;B	0.29590	0.027;0.004;0.25	B;B;B	0.24155	0.051;0.01;0.026	T	0.42515	-0.9447	9	0.37606	T	0.19	.	4.9351	0.13937	0.0:0.7456:0.0:0.2544	.	106;86;89	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	K	106;89;86	ENSP00000438117:Q106K;ENSP00000369774:Q89K;ENSP00000402017:Q86K	ENSP00000369774:Q89K	Q	+	1	0	ZNF763	11949995	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.047000	0.14056	-0.082000	0.12640	0.195000	0.17529	CAG		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		6	277	6	277	---	---	---	---	A	12088995	C	A	12088995	3	1	9	1	0	0	0	0	1	0	0	0	18134	595	21	1	279	1	ZNF763	19	12088995	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1153216	12088995	47039988	812	1051										
OR7A5	26659	broad.mit.edu	37	chr19	14938133	14938133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattgccctttcattgttccCcacaacaaatgtattcccag	4	13	1	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.chr19:14938133C>A	ENST00000322301.3	-	2	1008	c.921G>T	c.(919-921)tgG>tgT	p.W307C	OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	307					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(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCATTGTTCCCCACAACAAAT	0.433																																						ENST00000322301.3																			0				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.(919-921)tgG>tgT		olfactory receptor, family 7, subfamily A, member 5							91	88	89					19																	14938133		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938133C>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.921G>T	19.37:g.14938133C>A	ENSP00000316955:p.Trp307Cys		Somatic				OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron	p.W307C			WXS	Illumina GAIIx	Phase_I	Q15622	OR7A5_HUMAN			2	1008	-			307					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.921G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	0.685	-0.796845	0.02862	.	.	ENSG00000188269	ENST00000322301	T	0.32023	1.47	0.328	0.328	0.15918	.	.	.	.	.	T	0.13586	0.0329	N	0.04787	-0.16	0.09310	N	1	B	0.25235	0.121	B	0.21917	0.037	T	0.23619	-1.0183	8	0.45353	T	0.12	.	.	.	.	.	307	Q15622	OR7A5_HUMAN	C	307	ENSP00000316955:W307C	ENSP00000316955:W307C	W	-	3	0	OR7A5	14799133	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.264000	0.08658	0.445000	0.26639	0.121000	0.15741	TGG		0.433	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		6	230	6	230	---	---	---	---	A	14938133	C	A	14938133	3	1	9	1	0	0	0	0	1	0	0	0	11216	624	22	1	42	1	OR7A5	19	14938133	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2849138	14938133	44190850	813	1052										
SIN3B	23309	broad.mit.edu	37	chr19	16973789	16973789	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattccaggatatagtgcagGggtcagcaaactctggccca	12	10	2	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.chr19:16973789G>T	ENST00000379803.1	+	10	1375	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V	SIN3B_ENST00000595541.1_5'Flank|SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1			SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATAGTGcaggggtcagcaaa	0.493																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1360-1362)gGg>gTg		SIN3 transcription regulator family member B							115	108	110					19																	16973789		2203	4300	6503	SO:0001630	splice_region_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973789G>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		ENST00000379803.1:c.1362+1G>T	19.37:g.16973789G>T			Somatic				SIN3B_ENST00000248054.5_Intron	p.G454V	NM_015260.2	NP_056075.1	WXS	Illumina GAIIx	Phase_I	O75182	SIN3B_HUMAN			10	1375	+			454			Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).			Splice_Site	SNP	ENST00000379803.1	37	c.1361G>T	CCDS32946.1	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211466	0.09757	.	.	ENSG00000127511	ENST00000379803	T	0.42513	0.97	1.5	0.456	0.16655	Histone deacetylase interacting (2);	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.25363	-1.0134	9	0.72032	D	0.01	.	3.7748	0.08656	0.2374:0.0:0.7626:0.0	.	454	O75182	SIN3B_HUMAN	V	454	ENSP00000369131:G454V	ENSP00000369131:G454V	G	+	2	0	SIN3B	16834789	0.001000	0.12720	0.001000	0.08648	0.042000	0.13812	0.166000	0.16583	0.226000	0.20979	0.561000	0.74099	GGG		0.493	SIN3B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462848.1	NM_015260	Missense_Mutation	8	290	8	290	---	---	---	---	T	16973789	G	T	16973789	5	4	9	1	0	0	0	0	0	0	1	0	14326	1246	43	1	1399	1	SIN3B	19	16973789	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2035656	16973789	42155194	814	1053										
ANKLE1	126549	broad.mit.edu	37	chr19	17394162	17394162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccccagcctccctgttcccCttgaaactgtggacaaacat	6	17	0	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.chr19:17394162C>A	ENST00000394458.3	+	5	865	c.589C>A	c.(589-591)Ctt>Att	p.L197I	ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I|ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	197										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCCTGTTCCCCTTGAAACTGT	0.597																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(589-591)Ctt>Att		ankyrin repeat and LEM domain containing 1							74	85	82					19																	17394162		2202	4299	6501	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394162C>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.589C>A	19.37:g.17394162C>A	ENSP00000377971:p.Leu197Ile		Somatic				ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I	p.L197I	NM_152363.4	NP_689576	WXS	Illumina GAIIx	Phase_I	Q8NAG6	ANKL1_HUMAN			5	865	+			197					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.589C>A	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191864	0.38707	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.74947	-0.79;-0.89;-0.8	4.1	1.72	0.24424	.	2.613880	0.01765	N	0.030787	T	0.57213	0.2038	N	0.14661	0.345	0.09310	N	1	P;P;P;B	0.41673	0.69;0.617;0.759;0.213	B;B;B;B	0.39590	0.164;0.121;0.304;0.067	T	0.54118	-0.8341	10	0.17369	T	0.5	-37.2683	5.2815	0.15678	0.0:0.6735:0.2087:0.1178	.	197;183;197;186	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	I	197;251;219;186;197	ENSP00000384753:L197I;ENSP00000394460:L251I;ENSP00000384008:L219I	ENSP00000377971:L186I	L	+	1	0	ANKLE1	17255162	0.000000	0.05858	0.001000	0.08648	0.825000	0.46686	0.504000	0.22626	0.838000	0.34948	0.313000	0.20887	CTT		0.597	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		5	214	5	214	---	---	---	---	A	17394162	C	A	17394162	3	1	9	1	0	0	0	0	1	0	0	0	632	681	24	1	607	1	ANKLE1	19	17394162	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	420373	17394162	41734821	815	1054										
FAM129C	199786	broad.mit.edu	37	chr19	17648257	17648257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgctgttcctgcagcaccCcttccgccggcacctctgct	8	21	1	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.chr19:17648257C>A	ENST00000335393.4	+	6	731	c.593C>A	c.(592-594)cCc>cAc	p.P198H	FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	198										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTGCAGCACCCCTTCCGCCGG	0.617																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(592-594)cCc>cAc		family with sequence similarity 129, member C							99	93	95					19																	17648257		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648257C>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.593C>A	19.37:g.17648257C>A	ENSP00000335040:p.Pro198His		Somatic				FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H	p.P198H	NM_173544.4	NP_775815	WXS	Illumina GAIIx	Phase_I	Q86XR2	NIBL2_HUMAN			6	731	+			198					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.593C>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720007	0.48728	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.42	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.133205	0.34435	N	0.003974	T	0.38931	0.1059	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65874	0.939;0.939	T	0.31447	-0.9943	10	0.87932	D	0	-24.7074	12.541	0.56169	0.0:1.0:0.0:0.0	.	198;198	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	H	198;198;198;198;144	ENSP00000335040:P198H;ENSP00000333447:P198H;ENSP00000341067:P198H;ENSP00000300971:P198H	ENSP00000300971:P198H	P	+	2	0	FAM129C	17509257	0.996000	0.38824	1.000000	0.80357	0.337000	0.28794	3.873000	0.56093	2.041000	0.60428	0.479000	0.44913	CCC		0.617	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		5	159	5	159	---	---	---	---	A	17648257	C	A	17648257	3	1	9	1	0	0	0	0	1	0	0	0	5438	623	22	1	615	1	FAM129C	19	17648257	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	254095	17648257	41480726	816	1055										
JAK3	3718	broad.mit.edu	37	chr19	17943457	17943457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctgtttcacggccaccaGggcacctgtattgtcgccta	10	14	1	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.chr19:17943457G>T	ENST00000527670.1	-	18	2580	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	JAK3_ENST00000458235.1_Missense_Mutation_p.L851M|JAK3_ENST00000534444.1_Missense_Mutation_p.L851M			P52333	JAK3_HUMAN	Janus kinase 3	851	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)	ACGGCCACCAGGGCACCTGTA	0.587		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.(2551-2553)Ctg>Atg		Janus kinase 3							81	72	75					19																	17943457		2203	4300	6503	SO:0001583	missense	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.chr19:17943457G>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.2551C>A	19.37:g.17943457G>T	ENSP00000432511:p.Leu851Met		Somatic				JAK3_ENST00000534444.1_Missense_Mutation_p.L851M|JAK3_ENST00000527670.1_Missense_Mutation_p.L851M	p.L851M	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			19	2650	-			851			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2551C>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547911	0.45383	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82803	-1.65;-1.65;-1.65	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);	0.098049	0.44097	D	0.000496	D	0.82595	0.5071	L	0.33137	0.985	0.58432	D	0.999998	D;D	0.69078	0.997;0.963	D;P	0.69479	0.964;0.711	T	0.77877	-0.2424	10	0.21014	T	0.42	-19.2425	8.3943	0.32548	0.1066:0.0:0.8934:0.0	.	851;851	P52333-2;P52333	.;JAK3_HUMAN	M	851	ENSP00000391676:L851M;ENSP00000432511:L851M;ENSP00000436421:L851M	ENSP00000391676:L851M	L	-	1	2	JAK3	17804457	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.755000	0.38379	2.433000	0.82419	0.549000	0.68633	CTG		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	140	5	140	---	---	---	---	T	17943457	G	T	17943457	3	4	9	1	0	0	0	0	1	0	0	0	7939	991	35	1	847	1	JAK3	19	17943457	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	295200	17943457	41185526	817	1056										
SLC25A42	284439	broad.mit.edu	37	chr19	19218792	19218792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttatgcccaccgtgctggGggtcattccctacgctggcc	11	14	1	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.chr19:19218792G>T	ENST00000318596.7	+	7	738	c.587G>T	c.(586-588)gGg>gTg	p.G196V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	196					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACCGTGCTGGGGGTCATTCCC	0.547																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(586-588)gGg>gTg		solute carrier family 25, member 42							104	89	94					19																	19218792		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218792G>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.587G>T	19.37:g.19218792G>T	ENSP00000326693:p.Gly196Val		Somatic				SLC25A42_ENST00000600275.1_3'UTR	p.G196V	NM_178526.4	NP_848621.2	WXS	Illumina GAIIx	Phase_I	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		7	738	+			196					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.587G>T	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247194	0.59103	.	.	ENSG00000181035	ENST00000318596	T	0.79454	-1.27	5.36	5.36	0.76844	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92669	0.6148	10	0.87932	D	0	-11.7397	18.0599	0.89373	0.0:0.0:1.0:0.0	.	196	Q86VD7	S2542_HUMAN	V	196	ENSP00000326693:G196V	ENSP00000326693:G196V	G	+	2	0	SLC25A42	19079792	1.000000	0.71417	0.981000	0.43875	0.026000	0.11368	8.259000	0.89855	2.497000	0.84241	0.561000	0.74099	GGG		0.547	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		5	155	5	155	---	---	---	---	T	19218792	G	T	19218792	3	4	9	1	0	0	0	0	1	0	0	0	14507	1232	43	1	609	1	SLC25A42	19	19218792	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1275335	19218792	39910191	818	1057										
NCAN	1463	broad.mit.edu	37	chr19	19337519	19337519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacagaccctcagccctaccCctggggaccccatgctggcc	9	19	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.chr19:19337519C>A	ENST00000252575.6	+	7	1396	c.1297C>A	c.(1297-1299)Cct>Act	p.P433T	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	433					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)	CAGCCCTACCCCTGGGGACCC	0.622																																						ENST00000252575.6																			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.(1297-1299)Cct>Act		neurocan							35	37	36					19																	19337519		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337519C>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.1297C>A	19.37:g.19337519C>A	ENSP00000252575:p.Pro433Thr		Somatic					p.P433T	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1396	+								Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1297C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662146	0.47572	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.83914	-1.78	5.07	0.26	0.15588	.	0.607120	0.13829	N	0.359900	T	0.68860	0.3047	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.56848	-0.7911	10	0.49607	T	0.09	.	3.8263	0.08855	0.1651:0.5311:0.0:0.3038	.	433	O14594	NCAN_HUMAN	T	447;433	ENSP00000252575:P433T	ENSP00000252575:P433T	P	+	1	0	NCAN	19198519	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.003000	0.13083	0.133000	0.18654	0.561000	0.74099	CCT		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	49	4	49	---	---	---	---	A	19337519	C	A	19337519	3	1	9	1	0	0	0	0	1	0	0	0	10204	623	22	1	1319	1	NCAN	19	19337519	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	118727	19337519	39791464	819	1058										
C19orf2	8725	broad.mit.edu	37	chr19	30476158	30476158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagataatgactataatgccCttcgagaaagactcagcacc	7	10	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.chr19:30476158C>A	ENST00000542441.2	+	3	478	c.181C>A	c.(181-183)Ctt>Att	p.L61I	URI1_ENST00000312051.6_Missense_Mutation_p.L21I|URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	61					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CTATAATGCCCTTCGAGAAAG	0.274																																						ENST00000542441.2																			0											c.(181-183)Ctt>Att		URI1, prefoldin-like chaperone							187	194	192					19																	30476158		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30476158C>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.181C>A	19.37:g.30476158C>A	ENSP00000442436:p.Leu61Ile		Somatic				URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.L21I	p.L61I			WXS	Illumina GAIIx	Phase_I	O94763	RMP_HUMAN			3	478	+			61					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.181C>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490894	0.84962	.	.	ENSG00000105176	ENST00000360605;ENST00000542441;ENST00000312051	T;T	0.45668	0.89;0.89	4.8	4.8	0.61643	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.79475	2.455	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	T	0.71517	-0.4569	10	0.87932	D	0	-12.645	16.0247	0.80536	0.0:1.0:0.0:0.0	.	21;61;59	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	I	59;61;21	ENSP00000442436:L61I;ENSP00000312530:L21I	ENSP00000312530:L21I	L	+	1	0	C19orf2	35167998	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	5.293000	0.65680	2.230000	0.72887	0.563000	0.77884	CTT		0.274	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		9	391	9	391	---	---	---	---	A	30476158	C	A	30476158	3	1	9	1	0	0	0	0	1	0	0	0	1911	681	24	1	191	1	C19orf2	19	30476158	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	11138639	30476158	28652825	820	1059										
C19orf2	8725	broad.mit.edu	37	chr19	30477259	30477259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagtcactgttttactggGggacaactggtttgcaaagt	12	6	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.chr19:30477259G>T	ENST00000542441.2	+	4	599	c.302G>T	c.(301-303)gGg>gTg	p.G101V	URI1_ENST00000312051.6_Missense_Mutation_p.G61V|URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000392271.1_Missense_Mutation_p.G25V			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	101					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GTTTTACTGGGGGACAACTGG	0.398																																						ENST00000392271.1																			0											c.(73-75)gGg>gTg		URI1, prefoldin-like chaperone							140	138	138					19																	30477259		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30477259G>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.302G>T	19.37:g.30477259G>T	ENSP00000442436:p.Gly101Val		Somatic				URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000542441.2_Missense_Mutation_p.G101V|URI1_ENST00000312051.6_Missense_Mutation_p.G61V	p.G25V	NM_003796.3	NP_003787.2	WXS	Illumina GAIIx	Phase_I	O94763	RMP_HUMAN			4	599	+			101					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.74G>T	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913651	0.92178	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.75050	-0.9;-0.9;-0.9	5.25	5.25	0.73442	Prefoldin (1);Prefoldin subunit (1);	0.046629	0.85682	D	0.000000	D	0.88908	0.6565	M	0.88842	2.985	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	0.90674	0.4600	10	0.87932	D	0	-12.3649	19.2111	0.93755	0.0:0.0:1.0:0.0	.	61;101;99	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	V	99;25;101;61	ENSP00000376097:G25V;ENSP00000442436:G101V;ENSP00000312530:G61V	ENSP00000312530:G61V	G	+	2	0	C19orf2	35169099	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.329000	0.96413	2.624000	0.88883	0.563000	0.77884	GGG		0.398	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		7	276	7	276	---	---	---	---	T	30477259	G	T	30477259	3	4	9	1	0	0	0	0	1	0	0	0	1911	1232	43	1	316	1	C19orf2	19	30477259	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1101	30477259	28651724	821	1060										
TSHZ3	57616	broad.mit.edu	37	chr19	31769507	31769507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggcagtgagctcctgcaGggtgtcatgcgagctcccac	15	12	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.chr19:31769507G>T	ENST00000240587.4	-	2	1519	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	398					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)					AGCTCCTGCAGGGTGTCATGC	0.572																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1192-1194)Ctg>Atg		teashirt zinc finger homeobox 3							158	147	150					19																	31769507		2203	4300	6503	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.chr19:31769507G>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.1192C>A	19.37:g.31769507G>T	ENSP00000240587:p.Leu398Met		Somatic					p.L398M	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1519	-	Esophageal squamous(110;0.226)		398					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1192C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111702	0.37242	.	.	ENSG00000121297	ENST00000240587	T	0.29917	1.55	5.73	2.33	0.28932	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	L	0.36672	1.1	0.50039	D	0.999846	D	0.76494	0.999	D	0.75020	0.985	T	0.13072	-1.0523	10	0.56958	D	0.05	-18.9099	6.3009	0.21111	0.3074:0.1287:0.5639:0.0	.	398	Q63HK5	TSH3_HUMAN	M	398	ENSP00000240587:L398M	ENSP00000240587:L398M	L	-	1	2	TSHZ3	36461347	0.965000	0.33210	0.636000	0.29352	0.920000	0.55202	1.647000	0.37260	0.726000	0.32339	0.655000	0.94253	CTG		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	228	6	228	---	---	---	---	T	31769507	G	T	31769507	3	4	9	1	0	0	0	0	1	0	0	0	16622	991	35	1	2057	1	TSHZ3	19	31769507	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1292248	31769507	27359476	822	1061										
ANKRD27	84079	broad.mit.edu	37	chr19	33113352	33113352	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtttaatgcacacttgagGggcgtctccttcagtctgtt	11	9	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.chr19:33113352G>T	ENST00000306065.4	-	18	1961	c.1803C>A	c.(1801-1803)ccC>ccA	p.P601P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	601					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)					CACACTTGAGGGGCGTCTCCT	0.527																																						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.(1801-1803)ccC>ccA		ankyrin repeat domain 27 (VPS9 domain)							255	221	232					19																	33113352		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.chr19:33113352G>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.1803C>A	19.37:g.33113352G>T			Somatic					p.P601P	NM_032139.2	NP_115515.2	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			18	1961	-	Esophageal squamous(110;0.137)		601					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1803C>A	CCDS32986.1																																																																																				0.527	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	514	8	514	---	---	---	---	T	33113352	G	T	33113352	2	4	9	1	0	0	0	0	0	0	0	1	655	1219	43	1		1	ANKRD27	19	33113352	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1343845	33113352	26015631	823	1062										
CCDC123	84902	broad.mit.edu	37	chr19	33424468	33424468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcattgtgtttagttcaaGggtaaggctttgattcatat	9	4	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.chr19:33424468G>T	ENST00000305768.5	-	8	863	c.775C>A	c.(775-777)Ctt>Att	p.L259I	CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	259					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTAGTTCAAGGGTAAGGCTT	0.358																																						ENST00000305768.5																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(775-777)Ctt>Att		centrosomal protein 89kDa							272	246	255					19																	33424468		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33424468G>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.775C>A	19.37:g.33424468G>T	ENSP00000306105:p.Leu259Ile		Somatic				CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	p.L259I	NM_032816.3	NP_116205.3	WXS	Illumina GAIIx	Phase_I	Q96ST8	CEP89_HUMAN			8	863	-								B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.775C>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887952	0.33348	.	.	ENSG00000121289	ENST00000305768	T	0.31247	1.5	5.09	0.3	0.15776	.	1.213460	0.05698	N	0.593629	T	0.34483	0.0899	M	0.65975	2.015	0.09310	N	1	B;P;P	0.43352	0.386;0.804;0.804	B;B;B	0.44085	0.124;0.292;0.44	T	0.25012	-1.0144	10	0.38643	T	0.18	5.4751	5.0182	0.14347	0.3272:0.1457:0.5271:0.0	.	259;12;259	Q96ST8-3;Q96ST8-2;Q96ST8	.;.;CEP89_HUMAN	I	259	ENSP00000306105:L259I	ENSP00000306105:L259I	L	-	1	0	CEP89	38116308	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.765000	0.26546	-0.014000	0.14175	0.467000	0.42956	CTT		0.358	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		8	382	8	382	---	---	---	---	T	33424468	G	T	33424468	3	4	9	1	0	0	0	0	1	0	0	0	2759	1000	35	1	1624	1	CCDC123	19	33424468	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	311116	33424468	25704515	824	1063										
RHPN2	85415	broad.mit.edu	37	chr19	33535271	33535271	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgcaaggggattacagccCtgaggaaaaataagagatgc	13	6	0	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.chr19:33535271C>A	ENST00000254260.3	-	2	105		c.e2-1		RHPN2_ENST00000400226.4_Splice_Site	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2						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)					GATTACAGCCCTGAGGAAAAA	0.428																																						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.e2-1		rhophilin, Rho GTPase binding protein 2							46	45	46					19																	33535271		2203	4300	6503	SO:0001630	splice_region_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33535271C>A	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.70-1G>T	19.37:g.33535271C>A			Somatic				RHPN2_ENST00000400226.4_Splice_Site		NM_033103.4	NP_149094.3	WXS	Illumina GAIIx	Phase_I	Q8IUC4	RHPN2_HUMAN			2	105	-	Esophageal squamous(110;0.137)							B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Splice_Site	SNP	ENST00000254260.3	37		CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993119	0.35131	.	.	ENSG00000131941	ENST00000254260	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8132	0.88623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHPN2	38227111	1.000000	0.71417	0.994000	0.49952	0.108000	0.19459	7.069000	0.76755	2.563000	0.86464	0.561000	0.74099	.		0.428	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	Intron	6	124	6	124	---	---	---	---	A	33535271	C	A	33535271	5	1	9	1	0	0	0	0	0	0	1	0	13351	695	24	1	2047	1	RHPN2	19	33535271	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	110803	33535271	25593712	825	1064										
KIAA0355	9710	broad.mit.edu	37	chr19	34832949	34832949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccctccaccacgggcacccCaggctggggcacacacacct	9	21	0	0	rs142267455		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.chr19:34832949C>A	ENST00000299505.6	+	10	2983	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	704										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)					ACGGGCACCCCAGGCTGGGGC	0.612																																						ENST00000299505.6																			0				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.(2110-2112)Cag>Aag		KIAA0355							75	77	76					19																	34832949		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832949C>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.2110C>A	19.37:g.34832949C>A	ENSP00000299505:p.Gln704Lys		Somatic					p.Q704K	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	O15063	K0355_HUMAN			10	2983	+	Esophageal squamous(110;0.162)		704					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2110C>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917998	0.73098	.	.	ENSG00000166398	ENST00000299505	T	0.24538	1.85	5.53	5.53	0.82687	.	0.073354	0.56097	D	0.000038	T	0.22742	0.0549	N	0.24115	0.695	0.50039	D	0.999844	B	0.21606	0.058	B	0.24155	0.051	T	0.04320	-1.0960	10	0.87932	D	0	-4.1046	18.4467	0.90686	0.0:1.0:0.0:0.0	.	704	O15063	K0355_HUMAN	K	704	ENSP00000299505:Q704K	ENSP00000299505:Q704K	Q	+	1	0	KIAA0355	39524789	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.919000	0.63383	2.602000	0.87976	0.655000	0.94253	CAG		0.612	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		6	106	6	106	---	---	---	---	A	34832949	C	A	34832949	3	1	9	1	0	0	0	0	1	0	0	0	8170	595	21	1	2144	1	KIAA0355	19	34832949	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1297678	34832949	24296034	826	1065										
ZNF181	339318	broad.mit.edu	37	chr19	35231965	35231965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccagggcaaatctcttaccCttccccagacttgtaataga	7	13	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.chr19:35231965C>A	ENST00000492450.1	+	4	768	c.679C>A	c.(679-681)Ctt>Att	p.L227I	ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I|ZNF181_ENST00000392232.3_Missense_Mutation_p.L271I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	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(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)			ATCTCTTACCCTTCCCCAGAC	0.393																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(811-813)Ctt>Att		zinc finger protein 181							99	112	107					19																	35231965		2201	4299	6500	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231965C>A	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.679C>A	19.37:g.35231965C>A	ENSP00000420727:p.Leu227Ile		Somatic				ZNF181_ENST00000492450.1_Missense_Mutation_p.L227I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I	p.L271I			WXS	Illumina GAIIx	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	979	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		227					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.811C>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	6.707	0.499087	0.12762	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07567	3.18;3.18;3.18	2.89	1.84	0.25277	.	.	.	.	.	T	0.16938	0.0407	L	0.45285	1.41	0.26202	N	0.979429	B;P	0.52842	0.18;0.956	B;D	0.65010	0.048;0.931	T	0.07158	-1.0787	9	0.49607	T	0.09	.	8.3067	0.32047	0.0:0.8734:0.0:0.1266	.	226;227	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	I	271;226;227;226	ENSP00000376065:L271I;ENSP00000420727:L227I;ENSP00000419435:L226I	ENSP00000376065:L271I	L	+	1	0	ZNF181	39923805	0.000000	0.05858	0.063000	0.19743	0.009000	0.06853	-0.965000	0.03829	0.776000	0.33473	0.491000	0.48974	CTT		0.393	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	366	7	366	---	---	---	---	A	35231965	C	A	35231965	3	1	9	1	0	0	0	0	1	0	0	0	17746	681	24	1	693	1	ZNF181	19	35231965	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	399016	35231965	23897018	827	1066										
LSR	51599	broad.mit.edu	37	chr19	35749931	35749931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctcagcccaggacctccagGggaacaatgaggcctacgca	11	14	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.chr19:35749931G>T	ENST00000361790.3	+	3	841	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	LSR_ENST00000427250.1_Intron|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000602122.1_Missense_Mutation_p.G228W|LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000597933.1_3'UTR	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	228	Ig-like V-type.				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)			GGACCTCCAGGGGAACAATGA	0.592																																						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.(682-684)Ggg>Tgg		lipolysis stimulated lipoprotein receptor							128	93	105					19																	35749931		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35749931G>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.682G>T	19.37:g.35749931G>T	ENSP00000354575:p.Gly228Trp		Somatic				LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.G228W	p.G228W			WXS	Illumina GAIIx	Phase_I	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)		3	1169	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		228			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.682G>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044140	0.75732	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609	D;D;D;D	0.91124	-2.63;-2.46;-2.79;-2.63	4.99	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.84219	2.685	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;0.999	D	0.94934	0.8085	10	0.87932	D	0	-29.9748	11.1732	0.48584	0.0894:0.0:0.9106:0.0	.	191;228;228;228;228	Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;LSR_HUMAN	W	228;228;228;191	ENSP00000354575:G228W;ENSP00000346976:G228W;ENSP00000354034:G228W;ENSP00000262627:G191W	ENSP00000262627:G191W	G	+	1	0	LSR	40441771	1.000000	0.71417	0.625000	0.29200	0.962000	0.63368	8.832000	0.92079	1.341000	0.45600	0.561000	0.74099	GGG		0.592	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		5	113	5	113	---	---	---	---	T	35749931	G	T	35749931	3	4	9	1	0	0	0	0	1	0	0	0	9064	1232	43	1	692	1	LSR	19	35749931	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	517966	35749931	23379052	828	1067										
MLL4	9757	broad.mit.edu	37	chr19	36210766	36210766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagcagatgtggctcctaccCccccaaagacccctgcccgg	9	18	0	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.chr19:36210766C>A	ENST00000222270.7	+	3	517	c.517C>A	c.(517-519)Ccc>Acc	p.P173T	KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T|KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	173					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)										GGCTCCTACCCCCCCAAAGAC	0.632																																						ENST00000222270.7																			0											c.(517-519)Ccc>Acc		lysine (K)-specific methyltransferase 2B							44	52	49					19																	36210766		1956	4138	6094	SO:0001583	missense	9757							g.chr19:36210766C>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.517C>A	19.37:g.36210766C>A	ENSP00000222270:p.Pro173Thr		Somatic				KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T	p.P173T	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					3	517	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.517C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168819	0.57584	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85484	-1.99;-1.99;0.59	5.06	4.01	0.46588	.	0.176316	0.27500	N	0.019086	T	0.70046	0.3179	N	0.08118	0	0.29144	N	0.878853	B	0.20052	0.041	B	0.19391	0.025	T	0.66480	-0.5913	10	0.87932	D	0	.	9.5529	0.39321	0.0:0.9023:0.0:0.0977	.	173	Q9UMN6	MLL4_HUMAN	T	173	ENSP00000222270:P173T;ENSP00000398837:P173T;ENSP00000345761:P173T	ENSP00000222270:P173T	P	+	1	0	AD000671.1	40902606	0.273000	0.24181	1.000000	0.80357	0.993000	0.82548	0.902000	0.28459	2.632000	0.89209	0.561000	0.74099	CCC		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	138	6	138	---	---	---	---	A	36210766	C	A	36210766	3	1	9	1	0	0	0	0	1	0	0	0	9623	623	22	1	527	1	MLL4	19	36210766	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	460835	36210766	22918217	829	1068										
MLL4	9757	broad.mit.edu	37	chr19	36216191	36216191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctctgtgccagggggccCcccgatggtgtgcttgctgt	14	14	1	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.chr19:36216191C>A	ENST00000222270.7	+	11	3599	c.3599C>A	c.(3598-3600)cCc>cAc	p.P1200H	KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1200					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)										CCAGGGGGCCCCCCGATGGTG	0.597																																						ENST00000222270.7																			0											c.(3598-3600)cCc>cAc		lysine (K)-specific methyltransferase 2B							30	35	34					19																	36216191		1958	4126	6084	SO:0001583	missense	9757							g.chr19:36216191C>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.3599C>A	19.37:g.36216191C>A	ENSP00000222270:p.Pro1200His		Somatic				KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA	p.P1200H	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					11	3599	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3599C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.90133	-2.62;-2.62	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000450	D	0.93789	0.8014	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.93577	0.6909	10	0.59425	D	0.04	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	1200	Q9UMN6	MLL4_HUMAN	H	1200	ENSP00000222270:P1200H;ENSP00000398837:P1200H	ENSP00000222270:P1200H	P	+	2	0	AD000671.1	40908031	0.998000	0.40836	0.676000	0.29932	0.884000	0.51177	7.178000	0.77657	2.884000	0.98904	0.655000	0.94253	CCC		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	50	4	50	---	---	---	---	A	36216191	C	A	36216191	3	1	9	1	0	0	0	0	1	0	0	0	9623	623	22	1	3641	1	MLL4	19	36216191	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5425	36216191	22912792	830	1069										
ZNF585B	92285	broad.mit.edu	37	chr19	37677768	37677768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactgagatctgagttataaGggaaacctttcccacattca	7	9	2	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.chr19:37677768G>T	ENST00000532828.2	-	5	922	c.671C>A	c.(670-672)cCt>cAt	p.P224H	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	224					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)			TGAGTTATAAGGGAAACCTTT	0.393																																					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.(670-672)cCt>cAt		zinc finger protein 585B							115	114	114					19																	37677768		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677768G>T	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.671C>A	19.37:g.37677768G>T	ENSP00000433773:p.Pro224His		Somatic				ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	p.P224H	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	922	-			224					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.671C>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025372	0.07589	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.15139	2.45;2.45	2.78	0.123	0.14709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478255	0.15695	N	0.249204	T	0.05364	0.0142	N	0.03050	-0.425	0.09310	N	0.999998	B;B	0.20368	0.044;0.002	B;B	0.24974	0.057;0.002	T	0.31558	-0.9939	10	0.33940	T	0.23	.	1.2372	0.01955	0.1279:0.186:0.3067:0.3794	.	169;224	E9PQH3;Q52M93	.;Z585B_HUMAN	H	169;224	ENSP00000436774:P169H;ENSP00000433773:P224H	ENSP00000436774:P169H	P	-	2	0	ZNF585B	42369608	0.000000	0.05858	0.020000	0.16555	0.854000	0.48673	-5.276000	0.00135	0.461000	0.27071	0.455000	0.32223	CCT		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		6	237	6	237	---	---	---	---	T	37677768	G	T	37677768	3	4	9	1	0	0	0	0	1	0	0	0	18015	1000	35	1	1642	1	ZNF585B	19	37677768	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1461577	37677768	21451215	831	1070										
CATSPERG	57828	broad.mit.edu	37	chr19	38858158	38858158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaccccatagttttctaccCcttcttcttgattcaagatt	3	13	4	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.chr19:38858158C>A	ENST00000409235.3	+	24	2895	c.2780C>A	c.(2779-2781)cCc>cAc	p.P927H	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	927					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						GTTTTCTACCCCTTCTTCTTG	0.552																																						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.(2779-2781)cCc>cAc		catsper channel auxiliary subunit gamma							309	337	328					19																	38858158		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858158C>A	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.2780C>A	19.37:g.38858158C>A	ENSP00000386962:p.Pro927His		Somatic				CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H|CATSPERG_ENST00000215069.4_3'UTR	p.P927H	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	Q6ZRH7	CTSRG_HUMAN			24	2895	+			927					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2780C>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337079	0.60963	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30448	1.56;1.53	3.93	3.93	0.45458	.	0.000000	0.44097	U	0.000486	T	0.51160	0.1658	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.55029	-0.8204	10	0.87932	D	0	-24.2207	11.4417	0.50100	0.0:1.0:0.0:0.0	.	927;887	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	H	887;927;927	ENSP00000387057:P887H;ENSP00000386962:P927H	ENSP00000386962:P927H	P	+	2	0	CATSPERG	43549998	0.999000	0.42202	0.998000	0.56505	0.931000	0.56810	4.632000	0.61311	1.708000	0.51301	0.491000	0.48974	CCC		0.552	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		11	976	11	976	---	---	---	---	A	38858158	C	A	38858158	3	1	9	1	0	0	0	0	1	0	0	0	2692	623	22	1	2870	1	CATSPERG	19	38858158	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1180390	38858158	20270825	832	1071										
SPRED3	399473	broad.mit.edu	37	chr19	38881008	38881008	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggggctggctgcctgtgggGggcgggggcctcagccaggt	23	10	1	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.chr19:38881008G>T	ENST00000338502.4	+	1	169	c.66G>T	c.(64-66)ggG>ggT	p.G22G	GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000586301.1_Silent_p.G22G|SPRED3_ENST00000587564.2_3'UTR|GGN_ENST00000591809.1_5'Flank|SPRED3_ENST00000587013.1_Intron	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	22	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCTGTGGGGGGCGGGGGCC	0.716																																						ENST00000338502.4																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(64-66)ggG>ggT		sprouty-related, EVH1 domain containing 3							16	18	17					19																	38881008		1998	4149	6147	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38881008G>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.66G>T	19.37:g.38881008G>T			Somatic				SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G22G	p.G22G	NM_001042522.2	NP_001035987.1	WXS	Illumina GAIIx	Phase_I	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	169	+	all_cancers(60;3.4e-06)		22			WH1.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.66G>T	CCDS42560.1																																																																																				0.716	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		4	45	4	45	---	---	---	---	T	38881008	G	T	38881008	2	4	9	1	0	0	0	0	0	0	0	1	15093	1219	43	1		1	SPRED3	19	38881008	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	22850	38881008	20247975	833	1072										
RYR1	6261	broad.mit.edu	37	chr19	39039027	39039027	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggactacgtaacggatccCcgtggcctcatctccaagaa	9	14	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.chr19:39039027C>A	ENST00000359596.3	+	89	12249	c.12249C>A	c.(12247-12249)ccC>ccA	p.P4083P	RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000355481.4_Silent_p.P4078P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4083					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)	TAACGGATCCCCGTGGCCTCA	0.552																																						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.(12232-12234)ccC>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						140	118	126					19																	39039027		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.chr19:39039027C>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.12249C>A	19.37:g.39039027C>A			Somatic				RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000359596.3_Silent_p.P4083P	p.P4078P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12365	+	all_cancers(60;7.91e-06)		4083					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12234C>A	CCDS33011.1																																																																																				0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	189	5	189	---	---	---	---	A	39039027	C	A	39039027	2	1	9	1	0	0	0	0	0	0	0	1	13768	610	22	1		1	RYR1	19	39039027	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	158019	39039027	20089956	834	1073										
PLD3	23646	broad.mit.edu	37	chr19	40880402	40880402	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcagagtgcgcccccaccCctgtgtccaagtggccgcac	10	19	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.chr19:40880402C>A	ENST00000409587.1	+	10	1291	c.894C>A	c.(892-894)ccC>ccA	p.P298P	PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	298					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CGCCCCCACCCCTGTGTCCAA	0.597																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(892-894)ccC>ccA		phospholipase D family, member 3							103	94	97					19																	40880402		2203	4300	6503	SO:0001819	synonymous_variant	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40880402C>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.894C>A	19.37:g.40880402C>A			Somatic				PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P	p.P298P			WXS	Illumina GAIIx	Phase_I	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		10	1291	+			298					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.894C>A	CCDS33027.1																																																																																				0.597	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		5	151	5	151	---	---	---	---	A	40880402	C	A	40880402	2	1	9	1	0	0	0	0	0	0	0	1	12047	610	22	1		1	PLD3	19	40880402	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1841375	40880402	18248581	835	1074										
CYP2A7	1549	broad.mit.edu	37	chr19	41386418	41386418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcctcgatgaggaagccCgactcctcctggatgcgctc	12	14	0	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.chr19:41386418C>A	ENST00000301146.4	-	3	1000	c.459G>T	c.(457-459)tcG>tcT	p.S153S	CYP2A7_ENST00000291764.3_Silent_p.S102S|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAGGAAGCCCGACTCCTCCT	0.672																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(457-459)tcG>tcT		cytochrome P450, family 2, subfamily A, polypeptide 7							50	46	48					19																	41386418		2203	4300	6503	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386418C>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.459G>T	19.37:g.41386418C>A			Somatic				CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S	p.S153S	NM_000764.2	NP_000755.2	WXS	Illumina GAIIx	Phase_I	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1000	-			153					Q13121	Silent	SNP	ENST00000301146.4	37	c.459G>T	CCDS12569.1																																																																																				0.672	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		4	108	4	108	---	---	---	---	A	41386418	C	A	41386418	2	1	9	1	0	0	0	0	0	0	0	1	4163	639	23	1		1	CYP2A7	19	41386418	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	506016	41386418	17742565	836	1075										
CEACAM4	1089	broad.mit.edu	37	chr19	42132091	42132091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaacagcagggatccattgGggtatactgtctctcgacca	12	10	1	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.chr19:42132091G>T	ENST00000221954.2	-	2	418	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	103	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGATCCATTGGGGTATACTGT	0.512																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(307-309)cCc>cAc		carcinoembryonic antigen-related cell adhesion molecule 4							191	174	180					19																	42132091		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132091G>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.308C>A	19.37:g.42132091G>T	ENSP00000221954:p.Pro103His		Somatic				CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	p.P103H	NM_001817.2	NP_001808.2	WXS	Illumina GAIIx	Phase_I	O75871	CEAM4_HUMAN			2	418	-			103			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.308C>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.163066	0.09287	.	.	ENSG00000105352	ENST00000221954	T	0.01613	4.73	1.76	-3.05	0.05396	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01489	0.0048	L	0.52011	1.625	0.09310	N	1	B;B	0.30068	0.267;0.0	B;B	0.23419	0.046;0.003	T	0.45411	-0.9263	9	0.30854	T	0.27	.	0.5642	0.00684	0.1811:0.2414:0.3337:0.2437	.	103;103	E7EMX3;O75871	.;CEAM4_HUMAN	H	103	ENSP00000221954:P103H	ENSP00000221954:P103H	P	-	2	0	CEACAM4	46823931	0.006000	0.16342	0.000000	0.03702	0.019000	0.09904	-0.506000	0.06359	-0.616000	0.05671	0.205000	0.17691	CCC		0.512	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		6	289	6	289	---	---	---	---	T	42132091	G	T	42132091	3	4	9	1	0	0	0	0	1	0	0	0	3194	1232	43	1	450	1	CEACAM4	19	42132091	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	745673	42132091	16996892	837	1076										
ATP1A3	478	broad.mit.edu	37	chr19	42490070	42490070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggcactcggtctccaccCttgatctccaccaggtcccc	8	19	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.chr19:42490070C>A	ENST00000302102.5	-	6	702	c.552G>T	c.(550-552)aaG>aaT	p.K184N	ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K197N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	184					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.K184K(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						GGTCTCCACCCTTGATCTCCA	0.642																																						ENST00000545399.1																			1	Substitution - coding silent(1)	p.K184K(1)	lung(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.(589-591)aaG>aaT		ATPase, Na+/K+ transporting, alpha 3 polypeptide							167	146	153					19																	42490070		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.chr19:42490070C>A		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.552G>T	19.37:g.42490070C>A	ENSP00000302397:p.Lys184Asn		Somatic				ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K184N	p.K197N	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			6	744	-			184					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.591G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343093	0.61073	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.058112	0.64402	D	0.000005	D	0.93559	0.7944	L	0.58354	1.805	0.58432	D	0.999999	P;D;D;P	0.67145	0.896;0.961;0.996;0.924	P;P;D;P	0.71656	0.451;0.723;0.974;0.819	D	0.93102	0.6509	10	0.87932	D	0	.	7.5468	0.27772	0.0:0.8773:0.0:0.1227	.	197;195;184;184	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	184;184;197;154;195	ENSP00000302397:K184N;ENSP00000411503:K184N;ENSP00000444688:K197N;ENSP00000437577:K195N	ENSP00000302397:K184N	K	-	3	2	ATP1A3	47181910	0.998000	0.40836	1.000000	0.80357	0.595000	0.36748	0.686000	0.25392	1.833000	0.53350	0.313000	0.20887	AAG		0.642	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	175	5	175	---	---	---	---	A	42490070	C	A	42490070	3	1	9	1	0	0	0	0	1	0	0	0	1130	680	24	1	2561	1	ATP1A3	19	42490070	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	357979	42490070	16638913	838	1077										
PSG1	5669	broad.mit.edu	37	chr19	43383715	43383715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgcgctgtgtgcagggagGggctgagagggttcccatgg	20	7	0	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.chr19:43383715G>T	ENST00000436291.2	-	1	135	c.19C>A	c.(19-21)Cct>Act	p.P7T	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Missense_Mutation_p.P7T|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000312439.6_Missense_Mutation_p.P7T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	7					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)				GTGCAGGGAGGGGCTGAGAGG	0.567																																						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.(19-21)Cct>Act		pregnancy specific beta-1-glycoprotein 1							187	158	168					19																	43383715		1510	2707	4217	SO:0001583	missense	5669							g.chr19:43383715G>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.19C>A	19.37:g.43383715G>T	ENSP00000413041:p.Pro7Thr		Somatic				PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000436291.2_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T	p.P7T	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					1	156	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.19C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681608	0.29872	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.35236	1.33;5.88;1.32;1.37	1.64	-3.04	0.05412	.	.	.	.	.	T	0.46833	0.1413	M	0.64404	1.975	0.09310	N	1	D;D;D;D;P;D;P;D;D	0.89917	0.994;0.988;1.0;1.0;0.533;0.992;0.941;1.0;0.966	P;P;D;D;B;D;P;D;P	0.91635	0.839;0.883;0.998;0.999;0.076;0.939;0.515;0.996;0.852	T	0.39057	-0.9632	9	0.72032	D	0.01	.	2.0628	0.03596	0.3625:0.0:0.3862:0.2513	.	7;7;7;7;7;7;7;7;7	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	T	7	ENSP00000413041:P7T;ENSP00000385386:P7T;ENSP00000308970:P7T;ENSP00000244296:P7T	ENSP00000244296:P7T	P	-	1	0	PSG1	48075555	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.118000	0.03280	-0.606000	0.05746	0.184000	0.17185	CCT		0.567	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			6	237	6	237	---	---	---	---	T	43383715	G	T	43383715	3	4	9	1	0	0	0	0	1	0	0	0	12653	1232	43	1	1317	1	PSG1	19	43383715	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	893645	43383715	15745268	839	1078										
ZNF283	284349	broad.mit.edu	37	chr19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcaaaacttgttcatgagAgaactcatagtaatgataaa	7	6	3	3	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		Somatic				ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	p.R646G	NM_181845.1	NP_862828.1	WXS	Illumina GAIIx	Phase_I	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	5	132	---	---	---	---	G	44352689	A	G	44352689	3	3	9	1	0	0	0	0	1	0	0	0	17817	296	11	2	1950	2	ZNF283	19	44352689	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08	968974	44352689	14776294	840	1079										
BCAM	4059	broad.mit.edu	37	chr19	45314562	45314562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcattctggactgcaccCctacgggaacccacgaccat	8	16	2	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.chr19:45314562C>A	ENST00000270233.6	+	2	185	c.163C>A	c.(163-165)Cct>Act	p.P55T	BCAM_ENST00000589651.1_Missense_Mutation_p.P55T	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	55	Ig-like V-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)				GGACTGCACCCCTACGGGAAC	0.592																																						ENST00000589651.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(163-165)Cct>Act		basal cell adhesion molecule (Lutheran blood group)							195	176	182					19																	45314562		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45314562C>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.163C>A	19.37:g.45314562C>A	ENSP00000270233:p.Pro55Thr		Somatic				BCAM_ENST00000270233.6_Missense_Mutation_p.P55T	p.P55T			WXS	Illumina GAIIx	Phase_I	P50895	BCAM_HUMAN			2	217	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				Ig-like V-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.163C>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626638	0.28978	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.26660	1.72;1.72	3.64	1.17	0.20885	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	1	P	0.41345	0.746	B	0.42916	0.402	T	0.14309	-1.0477	9	0.16420	T	0.52	-9.1417	5.6576	0.17650	0.2277:0.5507:0.2216:0.0	.	55	P50895	BCAM_HUMAN	T	55	ENSP00000270233:P55T;ENSP00000375817:P55T	ENSP00000270233:P55T	P	+	1	0	BCAM	50006402	0.002000	0.14202	0.203000	0.23512	0.124000	0.20399	1.264000	0.33015	0.835000	0.34877	0.305000	0.20034	CCT		0.592	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		6	208	6	208	---	---	---	---	A	45314562	C	A	45314562	3	1	9	1	0	0	0	0	1	0	0	0	1344	623	22	1	169	1	BCAM	19	45314562	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	961873	45314562	13814421	841	1080										
CD3EAP	10849	broad.mit.edu	37	chr19	45911704	45911704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggcaacccaccagtcacaGggcctaggtcagccttggcc	13	15	2	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.chr19:45911704G>T	ENST00000309424.3	+	3	966	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	160					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)		ACCAGTCACAGGGCCTAGGTC	0.622																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(478-480)Ggg>Tgg		CD3e molecule, epsilon associated protein							50	49	49					19																	45911704		2203	4300	6503	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911704G>T	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.478G>T	19.37:g.45911704G>T	ENSP00000310966:p.Gly160Trp		Somatic				ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000300853.3_3'UTR	p.G160W	NM_012099.1	NP_036231.1	WXS	Illumina GAIIx	Phase_I	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	966	+		all_neural(266;0.224)|Ovarian(192;0.231)	160					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.478G>T	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022181	0.54683	.	.	ENSG00000117877	ENST00000309424	T	0.20200	2.09	4.77	4.77	0.60923	.	0.215871	0.33180	N	0.005199	T	0.42108	0.1188	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.28618	-1.0038	10	0.72032	D	0.01	-35.2663	13.6409	0.62251	0.0:0.0:1.0:0.0	.	162;160	O15446-2;O15446	.;RPA34_HUMAN	W	160	ENSP00000310966:G160W	ENSP00000310966:G160W	G	+	1	0	CD3EAP	50603544	0.751000	0.28327	0.998000	0.56505	0.431000	0.31685	1.976000	0.40579	2.356000	0.79943	0.561000	0.74099	GGG		0.622	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		5	99	5	99	---	---	---	---	T	45911704	G	T	45911704	3	4	9	1	0	0	0	0	1	0	0	0	3012	1000	35	1	488	1	CD3EAP	19	45911704	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	597142	45911704	13217279	842	1081										
TPRX1	284355	broad.mit.edu	37	chr19	48305095	48305095	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagagccaccctcctcttgGggctgagaccctgagtgttt	11	13	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.chr19:48305095G>T	ENST00000322175.3	-	2	1328	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	TPRX1_ENST00000535759.1_Silent_p.P488P|TPRX1_ENST00000543508.1_Silent_p.P381P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	391						nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CCTCCTCTTGGGGCTGAGACC	0.527																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1462-1464)ccC>ccA		tetra-peptide repeat homeobox 1							97	102	100					19																	48305095		2203	4300	6503	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305095G>T		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.1173C>A	19.37:g.48305095G>T			Somatic				TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000322175.3_Silent_p.P391P	p.P488P			WXS	Illumina GAIIx	Phase_I	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	1463	-		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)	391					A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.1464C>A	CCDS33066.1																																																																																				0.527	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		7	293	7	293	---	---	---	---	T	48305095	G	T	48305095	2	4	9	1	0	0	0	0	0	0	0	1	16419	1219	43	1		1	TPRX1	19	48305095	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2393391	48305095	10823888	843	1082										
SPHK2	56848	broad.mit.edu	37	chr19	49131475	49131475	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagctgtgaagatgcctgtGggcatcctcccctgcggctc	13	13	0	2	rs531500911		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.chr19:49131475G>T	ENST00000245222.4	+	6	1179	c.813G>T	c.(811-813)gtG>gtT	p.V271V	SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000443164.1_Silent_p.V333V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000601712.1_Silent_p.V235V|SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	271	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				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)		AGATGCCTGTGGGCATCCTCC	0.652																																						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.(997-999)gtG>gtT		sphingosine kinase 2							39	40	40					19																	49131475		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:49131475G>T	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.813G>T	19.37:g.49131475G>T			Somatic				SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000245222.4_Silent_p.V271V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V	p.V333V			WXS	Illumina GAIIx	Phase_I	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)	4	1704	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	271					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.999G>T	CCDS12727.1																																																																																				0.652	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			4	79	4	79	---	---	---	---	T	49131475	G	T	49131475	2	4	9	1	0	0	0	0	0	0	0	1	15046	1335	47	1		1	SPHK2	19	49131475	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	826380	49131475	9997508	844	1083										
ALDH16A1	126133	broad.mit.edu	37	chr19	49967984	49967984	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctttggcctcgctgttccCtcaaccctgccggctgggcc	10	18	1	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.chr19:49967984C>A	ENST00000293350.4	+	12	1696	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000540132.1_Silent_p.P348P|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	511						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGCTGTTCCCTCAACCCTGC	0.617																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1531-1533)ccC>ccA		aldehyde dehydrogenase 16 family, member A1							122	129	127					19																	49967984		2203	4300	6503	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967984C>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1533C>A	19.37:g.49967984C>A			Somatic				ALDH16A1_ENST00000540132.1_Silent_p.P348P|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P	p.P511P	NM_153329.3	NP_699160.2	WXS	Illumina GAIIx	Phase_I	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	12	1696	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	511					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1533C>A	CCDS12766.1																																																																																				0.617	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		6	273	6	273	---	---	---	---	A	49967984	C	A	49967984	2	1	9	1	0	0	0	0	0	0	0	1	488	668	24	1		1	ALDH16A1	19	49967984	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	836509	49967984	9160999	845	1084										
ZNF616	90317	broad.mit.edu	37	chr19	52620075	52620075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtaagattgttttcatgGggcactggcacttctttatc	9	9	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.chr19:52620075G>T	ENST00000600228.1	-	4	603	c.342C>A	c.(340-342)ccC>ccA	p.P114P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|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)		TGTTTTCATGGGGCACTGGCA	0.343																																						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.(340-342)ccC>ccA		zinc finger protein 616							208	187	194					19																	52620075		2202	4300	6502	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52620075G>T	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.342C>A	19.37:g.52620075G>T			Somatic				ZNF616_ENST00000330123.5_3'UTR	p.P114P	NM_178523.3	NP_848618.2	WXS	Illumina GAIIx	Phase_I	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	603	-			114					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.342C>A	CCDS33090.1																																																																																				0.343	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		6	351	6	351	---	---	---	---	T	52620075	G	T	52620075	2	4	9	1	0	0	0	0	0	0	0	1	18038	1219	43	1		1	ZNF616	19	52620075	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2652091	52620075	6508908	846	1085										
ZNF836	162962	broad.mit.edu	37	chr19	52659287	52659287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacatttgtaaggttgctccCcagtatgaattcttaaatgt	7	7	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.chr19:52659287C>A	ENST00000322146.8	-	5	2170	c.1649G>T	c.(1648-1650)gGg>gTg	p.G550V	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGCTCCCCAGTATGAAT	0.373																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1648-1650)gGg>gTg		zinc finger protein 836							139	149	146					19																	52659287		2060	4234	6294	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659287C>A	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.1649G>T	19.37:g.52659287C>A	ENSP00000325038:p.Gly550Val		Somatic				ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V|CTC-471J1.8_ENST00000594362.1_RNA	p.G550V	NM_001102657.1	NP_001096127.1	WXS	Illumina GAIIx	Phase_I	Q6ZNA1	ZN836_HUMAN			5	2170	-			550						Missense_Mutation	SNP	ENST00000322146.8	37	c.1649G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157030	0.38119	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.23552	1.9	2.09	1.02	0.19986	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49729	0.1574	M	0.85542	2.76	0.32855	D	0.507122	D	0.89917	1.0	D	0.97110	1.0	T	0.60969	-0.7157	9	0.87932	D	0	.	7.9491	0.30003	0.0:0.8476:0.0:0.1524	.	550	Q6ZNA1	ZN836_HUMAN	V	550;124	ENSP00000325038:G550V	ENSP00000325038:G550V	G	-	2	0	ZNF836	57351099	0.000000	0.05858	0.035000	0.18076	0.005000	0.04900	0.032000	0.13732	1.152000	0.42452	0.484000	0.47621	GGG		0.373	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		8	418	8	418	---	---	---	---	A	52659287	C	A	52659287	3	1	9	1	0	0	0	0	1	0	0	0	18184	623	22	1	1163	1	ZNF836	19	52659287	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	39212	52659287	6469696	847	1086										
ZNF701	55762	broad.mit.edu	37	chr19	53085779	53085779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagtgcacatatttcaccCcgaagggaaaattggtaatc	9	8	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.chr19:53085779C>A	ENST00000540331.1	+	5	890	c.665C>A	c.(664-666)cCc>cAc	p.P222H	ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	222					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)		ATATTTCACCCCGAAGGGAAA	0.418																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(664-666)cCc>cAc		zinc finger protein 701							87	86	86					19																	53085779		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085779C>A	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.665C>A	19.37:g.53085779C>A	ENSP00000444339:p.Pro222His		Somatic				ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H	p.P222H	NM_001172655.1	NP_001166126.1	WXS	Illumina GAIIx	Phase_I	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	890	+			156					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.665C>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476893	0.26511	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05025	3.51;3.53;3.53	1.81	0.467	0.16721	.	.	.	.	.	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;P	0.50943	0.025;0.94	B;P	0.46975	0.033;0.533	T	0.39663	-0.9603	9	0.52906	T	0.07	.	6.8466	0.23992	0.2717:0.7283:0.0:0.0	.	222;156	F5GZM6;Q9NV72	.;ZN701_HUMAN	H	156;222;222	ENSP00000375662:P156H;ENSP00000301093:P222H;ENSP00000444339:P222H	ENSP00000301093:P222H	P	+	2	0	ZNF701	57777591	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-3.096000	0.00606	1.001000	0.39076	0.306000	0.20318	CCC		0.418	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		6	225	6	225	---	---	---	---	A	53085779	C	A	53085779	3	1	9	1	0	0	0	0	1	0	0	0	18102	623	22	1	679	1	ZNF701	19	53085779	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	426492	53085779	6043204	848	1087										
VN1R2	317701	broad.mit.edu	37	chr19	53762616	53762616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctttgcattatgttacgccCtttccttcatcacctacgtt	4	14	2	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.chr19:53762616C>A	ENST00000341702.3	+	1	1072	c.988C>A	c.(988-990)Ctt>Att	p.L330I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	330					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)		ATGTTACGCCCTTTCCTTCAT	0.443																																						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.(988-990)Ctt>Att		vomeronasal 1 receptor 2							273	237	249					19																	53762616		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762616C>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.988C>A	19.37:g.53762616C>A	ENSP00000351244:p.Leu330Ile		Somatic				VN1R2_ENST00000598458.1_Intron	p.L330I	NM_173856.2	NP_776255.2	WXS	Illumina GAIIx	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1072	+			330					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.988C>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422520	0.25639	.	.	ENSG00000196131	ENST00000341702	T	0.37235	1.21	2.93	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38427	0.1040	L	0.41356	1.27	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.30387	-0.9980	9	0.52906	T	0.07	.	5.7857	0.18333	0.4711:0.4284:0.0:0.1005	.	330	Q8NFZ6	VN1R2_HUMAN	I	330	ENSP00000351244:L330I	ENSP00000351244:L330I	L	+	1	0	VN1R2	58454428	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	0.425000	0.21346	-0.311000	0.08754	-1.404000	0.01136	CTT		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		7	379	7	379	---	---	---	---	A	53762616	C	A	53762616	3	1	9	1	0	0	0	0	1	0	0	0	17176	681	24	1	990	1	VN1R2	19	53762616	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	676837	53762616	5366367	849	1088										
TMC4	147798	broad.mit.edu	37	chr19	54676750	54676750	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctacctcctctggcctcccgGggggccagccaccccctaga	10	20	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.chr19:54676750G>T	ENST00000376591.4	-	1	194	c.63C>A	c.(61-63)ccC>ccA	p.P21P	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Silent_p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	21					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)					TGGCCTCCCGGGGGGCCAGCC	0.637																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(61-63)ccC>ccA		transmembrane channel-like 4							85	100	95					19																	54676750		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54676750G>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.63C>A	19.37:g.54676750G>T			Somatic				TMC4_ENST00000301187.4_Silent_p.P21P	p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	WXS	Illumina GAIIx	Phase_I	Q7Z404	TMC4_HUMAN			1	194	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		21					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.63C>A	CCDS46174.1																																																																																				0.637	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	292	7	292	---	---	---	---	T	54676750	G	T	54676750	2	4	9	1	0	0	0	0	0	0	0	1	15984	1219	43	1		1	TMC4	19	54676750	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	914134	54676750	4452233	850	1089										
LILRA1	11024	broad.mit.edu	37	chr19	55106604	55106604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctcagctctacccagccCtgtggtgacctcaggaggga	11	15	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.chr19:55106604C>A	ENST00000251372.3	+	5	580	c.398C>A	c.(397-399)cCt>cAt	p.P133H	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.P133H|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	133	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)			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)		CTACCCAGCCCTGTGGTGACC	0.547																																						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.(397-399)cCt>cAt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							130	119	122					19																	55106604		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.chr19:55106604C>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.398C>A	19.37:g.55106604C>A	ENSP00000251372:p.Pro133His		Somatic				LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P133H|LILRB1_ENST00000448689.1_Intron	p.P133H	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	568	+			133			Ig-like C2-type 2.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.398C>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848857	0.32699	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03580	3.88;3.88	2.24	-0.829	0.10796	Immunoglobulin-like fold (1);	0.258713	0.27673	N	0.018326	T	0.16685	0.0401	M	0.92317	3.295	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.03249	-1.1056	10	0.72032	D	0.01	.	3.9394	0.09319	0.2702:0.4632:0.2666:0.0	.	133;133	O75019-2;O75019	.;LIRA1_HUMAN	H	133	ENSP00000251372:P133H;ENSP00000413715:P133H	ENSP00000251372:P133H	P	+	2	0	LILRA1	59798416	0.000000	0.05858	0.038000	0.18304	0.020000	0.10135	-0.999000	0.03697	0.201000	0.20466	0.194000	0.17425	CCT		0.547	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		5	181	5	181	---	---	---	---	A	55106604	C	A	55106604	3	1	9	1	0	0	0	0	1	0	0	0	8784	681	24	1	412	1	LILRA1	19	55106604	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	429854	55106604	4022379	851	1090										
KIR3DL1	3811	broad.mit.edu	37	chr19	55331383	55331383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatgatgcttgcccttgcaGggacctacagatgctacggt	11	12	0	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.chr19:55331383G>T	ENST00000391728.4	+	4	604	c.571G>T	c.(571-573)Ggg>Tgg	p.G191W	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	191	Ig-like C2-type 2.				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)		TGCCCTTGCAGGGACCTACAG	0.552																																						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.(571-573)Ggg>Tgg		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							239	203	216					19																	55331383		2186	4162	6348	SO:0001583	missense	3811							g.chr19:55331383G>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.571G>T	19.37:g.55331383G>T	ENSP00000375608:p.Gly191Trp		Somatic				KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W	p.G191W	NM_013289.2	NP_037421.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	4	604	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.571G>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.678412	0.29783	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.01613	4.73;4.73;4.73;4.73;4.73;4.73	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.35291	U	0.003305	T	0.09379	0.0231	M	0.88310	2.945	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;1.0;1.0;0.996	T	0.02009	-1.1230	10	0.87932	D	0	.	6.3394	0.21314	0.0:0.0:1.0:0.0	.	191;96;191;191	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	W	191;191;191;169;191;191;96	ENSP00000384528:G191W;ENSP00000443350:G191W;ENSP00000442355:G191W;ENSP00000375608:G191W;ENSP00000326868:G191W;ENSP00000350901:G96W	ENSP00000326868:G191W	G	+	1	0	KIR3DL1	60023195	0.119000	0.22226	0.005000	0.12908	0.039000	0.13416	1.161000	0.31773	1.138000	0.42230	0.184000	0.17185	GGG		0.552	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		7	510	7	510	---	---	---	---	T	55331383	G	T	55331383	3	4	9	1	0	0	0	0	1	0	0	0	8320	1000	35	1	585	1	KIR3DL1	19	55331383	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	224779	55331383	3797600	852	1091										
EPS8L1	54869	broad.mit.edu	37	chr19	55589469	55589469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccagcccagaagctgccCcaaagccaagcgccaagtct	8	17	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.chr19:55589469C>A	ENST00000201647.6	+	3	87	c.31C>A	c.(31-33)Cca>Aca	p.P11T	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	11					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)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAGCTGCCCCAAAGCCAAG	0.572																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(31-33)Cca>Aca		EPS8-like 1							64	58	60					19																	55589469		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55589469C>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.31C>A	19.37:g.55589469C>A	ENSP00000201647:p.Pro11Thr		Somatic				EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	p.P11T	NM_133180.2	NP_573441.2	WXS	Illumina GAIIx	Phase_I	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	87	+			11					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.31C>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086153	0.20390	.	.	ENSG00000131037	ENST00000201647	T	0.04119	3.7	3.98	3.98	0.46160	.	0.187727	0.33834	N	0.004507	T	0.04452	0.0122	N	0.19112	0.55	0.80722	D	1	P	0.52316	0.952	B	0.43445	0.42	T	0.51849	-0.8653	10	0.51188	T	0.08	-8.8492	11.9628	0.53017	0.0:1.0:0.0:0.0	.	11	Q8TE68	ES8L1_HUMAN	T	11	ENSP00000201647:P11T	ENSP00000201647:P11T	P	+	1	0	EPS8L1	60281281	1.000000	0.71417	0.992000	0.48379	0.400000	0.30750	3.441000	0.52893	1.956000	0.56807	0.561000	0.74099	CCA		0.572	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		6	88	6	88	---	---	---	---	A	55589469	C	A	55589469	3	1	9	1	0	0	0	0	1	0	0	0	5195	623	22	1	37	1	EPS8L1	19	55589469	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	258086	55589469	3539514	853	1092										
BRSK1	84446	broad.mit.edu	37	chr19	55805464	55805464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagacttcggcatggcgtccCtgcaggtgggggacagcctc	15	13	0	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.chr19:55805464C>A	ENST00000309383.1	+	5	815	c.538C>A	c.(538-540)Ctg>Atg	p.L180M	BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	180	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)		CATGGCGTCCCTGCAGGTGGG	0.607																																						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.(538-540)Ctg>Atg		BR serine/threonine kinase 1							145	155	152					19																	55805464		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.chr19:55805464C>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.538C>A	19.37:g.55805464C>A	ENSP00000310649:p.Leu180Met		Somatic				BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M	p.L180M	NM_032430.1	NP_115806.1	WXS	Illumina GAIIx	Phase_I	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	815	+		Renal(1328;0.245)	180			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.538C>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.007082	0.75046	.	.	ENSG00000160469	ENST00000309383	T	0.66638	-0.22	4.79	2.6	0.31112	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	0.000021	T	0.70613	0.3244	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71537	-0.4563	10	0.56958	D	0.05	.	11.0912	0.48117	0.0:0.8309:0.0:0.1691	.	180;196	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	M	180	ENSP00000310649:L180M	ENSP00000310649:L180M	L	+	1	2	BRSK1	60497276	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	3.418000	0.52721	1.147000	0.42369	-0.258000	0.10820	CTG		0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	362	7	362	---	---	---	---	A	55805464	C	A	55805464	3	1	9	1	0	0	0	0	1	0	0	0	1523	680	24	1	556	1	BRSK1	19	55805464	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	215995	55805464	3323519	854	1093										
NLRP9	338321	broad.mit.edu	37	chr19	56243925	56243925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atacccacccacatcacgccCtcagactcagataacccatt	3	18	3	2	rs75470507		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.chr19:56243925C>A	ENST00000332836.2	-	2	1299	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					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)		ACATCACGCCCTCAGACTCAG	0.473																																						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.(1270-1272)gaG>gaT		NLR family, pyrin domain containing 9							97	98	98					19																	56243925		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243925C>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.1272G>T	19.37:g.56243925C>A	ENSP00000331857:p.Glu424Asp		Somatic					p.E424D	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1299	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	424			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1272G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.857780	0.00558	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84730	-1.89	2.56	-5.13	0.02884	.	.	.	.	.	T	0.52805	0.1757	N	0.01209	-0.955	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54728	-0.8250	9	0.02654	T	1	.	6.9428	0.24502	0.6619:0.1487:0.1894:0.0	.	424	Q7RTR0	NALP9_HUMAN	D	424	ENSP00000331857:E424D	ENSP00000331857:E424D	E	-	3	2	NLRP9	60935737	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	1.672000	0.37523	-1.329000	0.02258	-0.280000	0.10049	GAG		0.473	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		6	290	6	290	---	---	---	---	A	56243925	C	A	56243925	3	1	9	1	0	0	0	0	1	0	0	0	10484	680	24	1	1735	1	NLRP9	19	56243925	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	438461	56243925	2885058	855	1094										
NLRP8	126205	broad.mit.edu	37	chr19	56482023	56482023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaactccctggagaactgtgGggcgtattacctgtctgtgg	13	9	1	1	rs530323728		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.chr19:56482023G>T	ENST00000291971.3	+	6	2566	c.2495G>T	c.(2494-2496)gGg>gTg	p.G832V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	832					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)		GAGAACTGTGGGGCGTATTAC	0.478																																						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.(2494-2496)gGg>gTg		NLR family, pyrin domain containing 8							133	141	138					19																	56482023		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56482023G>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.2495G>T	19.37:g.56482023G>T	ENSP00000291971:p.Gly832Val		Somatic				NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	p.G832V	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2566	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	832					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2495G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462600	0.12402	.	.	ENSG00000179709	ENST00000291971	T	0.62105	0.05	1.93	-1.87	0.07737	.	.	.	.	.	T	0.71821	0.3385	M	0.82193	2.58	0.09310	N	1	P;D	0.69078	0.784;0.997	B;D	0.64506	0.141;0.926	T	0.60622	-0.7227	9	0.87932	D	0	.	2.1667	0.03839	0.2176:0.0:0.3338:0.4486	.	832;832	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	832	ENSP00000291971:G832V	ENSP00000291971:G832V	G	+	2	0	NLRP8	61173835	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.679000	0.05203	-0.374000	0.07967	0.514000	0.50259	GGG		0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	307	6	307	---	---	---	---	T	56482023	G	T	56482023	3	4	9	1	0	0	0	0	1	0	0	0	10483	1232	43	1	2517	1	NLRP8	19	56482023	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	238098	56482023	2646960	856	1095										
ZNF304	57343	broad.mit.edu	37	chr19	57867524	57867524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccatgtgagatgtgtgaccCactcttgaaagacattttgc	9	10	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.chr19:57867524C>A	ENST00000282286.5	+	3	460	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q|ZNF304_ENST00000391705.3_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	96					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)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		ATGTGTGACCCACTCTTGAAA	0.502																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(286-288)cCa>cAa		zinc finger protein 304							110	96	101					19																	57867524		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867524C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.287C>A	19.37:g.57867524C>A	ENSP00000282286:p.Pro96Gln		Somatic				ZNF304_ENST00000282286.5_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q	p.P96Q	NM_020657.2	NP_065708.2	WXS	Illumina GAIIx	Phase_I	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	571	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	96						Missense_Mutation	SNP	ENST00000282286.5	37	c.287C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950869	0.34471	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27402	3.14;3.14;1.67	3.53	1.37	0.22104	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.30417	0.0764	L	0.53249	1.67	0.09310	N	1	P;P	0.50272	0.718;0.933	B;P	0.48030	0.316;0.564	T	0.16571	-1.0398	9	0.54805	T	0.06	.	3.0212	0.06076	0.2169:0.5548:0.0:0.2284	.	96;143	Q9HCX3;E7EQD3	ZN304_HUMAN;.	Q	96;96;143	ENSP00000282286:P96Q;ENSP00000375586:P96Q;ENSP00000401642:P143Q	ENSP00000282286:P96Q	P	+	2	0	ZNF304	62559336	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	0.177000	0.16801	0.483000	0.27608	0.563000	0.77884	CCA		0.502	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			4	93	4	93	---	---	---	---	A	57867524	C	A	57867524	3	1	9	1	0	0	0	0	1	0	0	0	17830	594	21	1	297	1	ZNF304	19	57867524	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1385501	57867524	1261459	857	1096										
ZNF304	57343	broad.mit.edu	37	chr19	57867922	57867922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttcagttgcggtgatgaaGggaaagccttcctggacacc	12	9	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.chr19:57867922G>T	ENST00000282286.5	+	3	858	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W|ZNF304_ENST00000391705.3_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	229					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)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		CGGTGATGAAGGGAAAGCCTT	0.493																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(685-687)Ggg>Tgg		zinc finger protein 304							100	86	91					19																	57867922		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867922G>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.685G>T	19.37:g.57867922G>T	ENSP00000282286:p.Gly229Trp		Somatic				ZNF304_ENST00000282286.5_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W	p.G229W	NM_020657.2	NP_065708.2	WXS	Illumina GAIIx	Phase_I	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	969	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	229						Missense_Mutation	SNP	ENST00000282286.5	37	c.685G>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	g	14.16	2.451831	0.43531	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.23754	1.89;1.89;1.89	3.49	-0.0119	0.13991	.	.	.	.	.	T	0.50684	0.1630	M	0.91663	3.23	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.69654	0.944;0.965	T	0.33854	-0.9852	9	0.87932	D	0	.	4.5956	0.12327	0.0904:0.1512:0.6024:0.1559	.	229;276	Q9HCX3;E7EQD3	ZN304_HUMAN;.	W	229;229;276	ENSP00000282286:G229W;ENSP00000375586:G229W;ENSP00000401642:G276W	ENSP00000282286:G229W	G	+	1	0	ZNF304	62559734	0.012000	0.17670	0.000000	0.03702	0.005000	0.04900	1.443000	0.35057	0.102000	0.17638	0.454000	0.30748	GGG		0.493	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			5	182	5	182	---	---	---	---	T	57867922	G	T	57867922	3	4	9	1	0	0	0	0	1	0	0	0	17830	1000	35	1	695	1	ZNF304	19	57867922	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	398	57867922	1261061	858	1097										
ZNF587	84914	broad.mit.edu	37	chr19	58370392	58370392	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaactatgcatggcccaccCtttcaggagggaaaaactaa	9	10	1	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.chr19:58370392C>A	ENST00000339656.5	+	3	794	c.612C>A	c.(610-612)ccC>ccA	p.P204P	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF814_ENST00000597342.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	204					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)		ATGGCCCACCCTTTCAGGAGG	0.463																																					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.(610-612)ccC>ccA		zinc finger protein 587							134	123	127					19																	58370392		2198	4296	6494	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370392C>A	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.612C>A	19.37:g.58370392C>A			Somatic				ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.P204P	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	WXS	Illumina GAIIx	Phase_I	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	794	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	204					A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.612C>A	CCDS12964.1																																																																																				0.463	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		6	333	6	333	---	---	---	---	A	58370392	C	A	58370392	2	1	9	1	0	0	0	0	0	0	0	1	18017	668	24	1		1	ZNF587	19	58370392	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	502470	58370392	758591	859	1098										
ZNF256	10172	broad.mit.edu	37	chr19	58453683	58453683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgcaagtgaagggcttccCagatacttcaaatgtgcagc	10	10	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.chr19:58453683C>A	ENST00000282308.3	-	3	689	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	165					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)		AAGGGCTTCCCAGATACTTCA	0.468																																					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.(493-495)Ggg>Tgg		zinc finger protein 256							156	144	148					19																	58453683		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.chr19:58453683C>A	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.493G>T	19.37:g.58453683C>A	ENSP00000282308:p.Gly165Trp		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.G165W	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	689	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	165					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.493G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.276754	0.40294	.	.	ENSG00000152454	ENST00000282308	T	0.07327	3.2	2.85	0.678	0.17969	.	.	.	.	.	T	0.20700	0.0498	M	0.63843	1.955	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.05886	-1.0858	9	0.87932	D	0	.	7.186	0.25799	0.0:0.7209:0.1737:0.1054	.	165	Q9Y2P7	ZN256_HUMAN	W	165	ENSP00000282308:G165W	ENSP00000282308:G165W	G	-	1	0	ZNF256	63145495	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.099000	0.03343	0.270000	0.21984	0.460000	0.39030	GGG		0.468	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			5	180	5	180	---	---	---	---	A	58453683	C	A	58453683	3	1	9	1	0	0	0	0	1	0	0	0	17796	594	21	1	1394	1	ZNF256	19	58453683	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	83291	58453683	675300	860	1099										
DEFB128	245939	broad.mit.edu	37	chr20	168756	168756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcattttttgagtcttgccCcgtctgtgcataggaaacaa	9	9	2	1	rs184108308		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.chr20:168756C>A	ENST00000334391.4	-	2	110	c.53G>T	c.(52-54)gGg>gTg	p.G18V		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	18					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GAGTCTTGCCCCGTCTGTGCA	0.428																																						ENST00000334391.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(52-54)gGg>gTg		defensin, beta 128							170	163	165					20																	168756		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:168756C>A	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"Defensins, beta"	18106	protein-coding gene	gene with protein product	"defensin, beta 28"					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.53G>T	20.37:g.168756C>A	ENSP00000335382:p.Gly18Val		Somatic					p.G18V	NM_001037732.1	NP_001032821.1	WXS	Illumina GAIIx	Phase_I	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	110	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	18					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.53G>T	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.728642	0.30593	.	.	ENSG00000185982	ENST00000334391	T	0.18502	2.21	4.23	-2.53	0.06326	.	2.086430	0.02146	N	0.057557	T	0.09730	0.0239	.	.	.	0.09310	N	0.999999	B	0.18310	0.027	B	0.13407	0.009	T	0.21348	-1.0248	9	0.38643	T	0.18	-0.0821	0.8373	0.01142	0.2488:0.2324:0.3235:0.1952	.	18	Q7Z7B8	DB128_HUMAN	V	18	ENSP00000335382:G18V	ENSP00000335382:G18V	G	-	2	0	DEFB128	116756	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.249000	0.08842	-0.436000	0.07254	0.651000	0.88453	GGG		0.428	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		6	324	6	324	---	---	---	---	A	168756	C	A	168756	3	1	9	1	0	0	0	0	1	0	0	0	4414	623	22	1	232	1	DEFB128	20	168756	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		168756	62856764	861	1100										
SIRPG	55423	broad.mit.edu	37	chr20	1616989	1616989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggccacactctgtcctgtgGggtccacgttggtctggaag	14	11	2	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.chr20:1616989G>T	ENST00000303415.3	-	3	657	c.593C>A	c.(592-594)cCc>cAc	p.P198H	RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.P165H|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	198	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)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGTCCTGTGGGGTCCACGTT	0.567																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(493-495)cCc>cAc		signal-regulatory protein gamma							186	163	171					20																	1616989		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616989G>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.593C>A	20.37:g.1616989G>T	ENSP00000305529:p.Pro198His		Somatic				RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.P198H	p.P165H			WXS	Illumina GAIIx	Phase_I	Q9P1W8	SIRPG_HUMAN			3	673	-			198			Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.494C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827366	0.32329	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.00628	6.11;6.11;6.11;6.11	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.224693	0.31519	N	0.007516	T	0.03178	0.0093	M	0.88181	2.935	0.09310	N	1	P;D	0.89917	0.895;1.0	P;D	0.78314	0.563;0.991	T	0.12682	-1.0538	10	0.51188	T	0.08	.	7.6109	0.28129	0.0:0.0:1.0:0.0	.	198;198	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	H	165;198;198;198	ENSP00000370992:P165H;ENSP00000305529:P198H;ENSP00000370995:P198H;ENSP00000216927:P198H	ENSP00000216927:P198H	P	-	2	0	SIRPG	1564989	0.041000	0.20044	0.001000	0.08648	0.001000	0.01503	2.328000	0.43867	1.148000	0.42385	0.404000	0.27445	CCC		0.567	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		5	151	5	151	---	---	---	---	T	1616989	G	T	1616989	3	4	9	1	0	0	0	0	1	0	0	0	14336	1232	43	1	582	1	SIRPG	20	1616989	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1448233	1616989	61408531	862	1101										
GPCPD1	56261	broad.mit.edu	37	chr20	5528362	5528362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacatggatatcagactccCcacacaaagatgagggaaca	8	12	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.chr20:5528362C>A	ENST00000379019.4	-	20	2176	c.1964G>T	c.(1963-1965)gGg>gTg	p.G655V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	655					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)	p.G655V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATCAGACTCCCCACACAAAGA	0.488																																						ENST00000379019.4																			1	Substitution - Missense(1)	p.G655V(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1963-1965)gGg>gTg		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							171	153	159					20																	5528362		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5528362C>A		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.1964G>T	20.37:g.5528362C>A	ENSP00000368305:p.Gly655Val		Somatic				GPCPD1_ENST00000481038.1_5'UTR	p.G655V	NM_019593.3	NP_062539.1	WXS	Illumina GAIIx	Phase_I	Q9NPB8	GPCP1_HUMAN			20	2176	-			655					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.1964G>T	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	1.110|1.110	-0.658350|-0.658350	0.03454|0.03454	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.40476|.	1.03|.	5.43|5.43	2.11|2.11	0.27256|0.27256	.|.	0.695263|.	0.13480|.	N|.	0.384723|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.02539|0.02539	-0.55|-0.55	0.46416|0.46416	D|D	0.999031|0.999031	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.03641|0.03641	-1.1017|-1.1017	10|5	0.22109|.	T|.	0.4|.	-3.0986|-3.0986	3.3222|3.3222	0.07054|0.07054	0.4371:0.2759:0.0:0.287|0.4371:0.2759:0.0:0.287	.|.	655|.	Q9NPB8|.	GPCP1_HUMAN|.	V|C	272;655|246	ENSP00000368305:G655V|.	ENSP00000368277:G272V|.	G|W	-|-	2|3	0|0	GPCPD1|GPCPD1	5476362|5476362	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.610000|0.610000	0.37248|0.37248	0.986000|0.986000	0.29590|0.29590	0.620000|0.620000	0.30215|0.30215	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.488	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		7	280	7	280	---	---	---	---	A	5528362	C	A	5528362	3	1	9	1	0	0	0	0	1	0	0	0	6603	623	22	1	58	1	GPCPD1	20	5528362	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3911373	5528362	57497158	863	1102										
PLCB1	23236	broad.mit.edu	37	chr20	8862392	8862392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagcaatcacggttctgccCctctctccctgtcctcagac	6	18	4	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.chr20:8862392C>A	ENST00000338037.6	+	32	3574	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1183					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						CGGTTCTGCCCCTCTCTCCCT	0.488																																						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.(3547-3549)Cct>Act		phospholipase C, beta 1 (phosphoinositide-specific)							171	179	176					20																	8862392		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.chr20:8862392C>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.3547C>A	20.37:g.8862392C>A	ENSP00000338185:p.Pro1183Thr		Somatic				PLCB1_ENST00000378641.3_3'UTR	p.P1183T	NM_015192.2	NP_056007.1	WXS	Illumina GAIIx	Phase_I	Q9NQ66	PLCB1_HUMAN			32	3574	+			1183					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3547C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.578001	0.13686	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.18174	2.23	5.77	4.64	0.57946	.	0.272984	0.36303	N	0.002668	T	0.06325	0.0163	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27157	-1.0082	10	0.02654	T	1	.	6.9179	0.24369	0.1306:0.6651:0.1272:0.0771	.	1183	Q9NQ66	PLCB1_HUMAN	T	1183;1103	ENSP00000338185:P1183T	ENSP00000338185:P1183T	P	+	1	0	PLCB1	8810392	0.974000	0.33945	0.998000	0.56505	0.992000	0.81027	0.492000	0.22435	2.729000	0.93468	0.655000	0.94253	CCT		0.488	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			6	276	6	276	---	---	---	---	A	8862392	C	A	8862392	3	1	9	1	0	0	0	0	1	0	0	0	12027	623	22	1	3776	1	PLCB1	20	8862392	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3334030	8862392	54163128	864	1103										
MKKS	8195	broad.mit.edu	37	chr20	10393194	10393194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacctgtcattttagtcagGggttccatcagagtcactcc	8	11	4	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.chr20:10393194G>T	ENST00000347364.3	-	3	1731	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MKKS_ENST00000399054.2_Silent_p.P323P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	323	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTTAGTCAGGGGTTCCATCA	0.363																																					Melanoma(79;1979 2212 6640)	ENST00000347364.3																			0				kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						c.(967-969)ccC>ccA		McKusick-Kaufman syndrome							100	99	100					20																	10393194		2203	4300	6503	SO:0001819	synonymous_variant	8195				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393194G>T	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.969C>A	20.37:g.10393194G>T			Somatic				MKKS_ENST00000399054.2_Silent_p.P323P	p.P323P	NM_170784.2	NP_740754.1	WXS	Illumina GAIIx	Phase_I	Q9NPJ1	MKKS_HUMAN			3	1731	-						Substrate-binding apical domain.		A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	c.969C>A	CCDS13111.1																																																																																				0.363	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			6	362	6	362	---	---	---	---	T	10393194	G	T	10393194	2	4	9	1	0	0	0	0	0	0	0	1	9600	1219	43	1		1	MKKS	20	10393194	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1530802	10393194	52632326	865	1104										
JAG1	182	broad.mit.edu	37	chr20	10620399	10620399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttctcataatccttgatgGggaccgtgttggccccatgt	11	10	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.chr20:10620399G>T	ENST00000254958.5	-	26	3919	c.3404C>A	c.(3403-3405)cCc>cAc	p.P1135H	JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1135					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						ATCCTTGATGGGGACCGTGTT	0.478									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.(3403-3405)cCc>cAc		jagged 1							138	135	136					20																	10620399		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.chr20:10620399G>T	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.3404C>A	20.37:g.10620399G>T	ENSP00000254958:p.Pro1135His		Somatic				JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	p.P1135H	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			26	3919	-			1135					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.3404C>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144839	0.57044	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.85861	-2.02;-2.04	5.52	5.52	0.82312	.	0.050475	0.85682	D	0.000000	T	0.80644	0.4662	N	0.08118	0	0.80722	D	1	P	0.51240	0.943	P	0.49683	0.619	D	0.84549	0.0643	10	0.66056	D	0.02	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	1135	P78504	JAG1_HUMAN	H	1135;976	ENSP00000254958:P1135H;ENSP00000389519:P976H	ENSP00000254958:P1135H	P	-	2	0	JAG1	10568399	1.000000	0.71417	0.846000	0.33378	0.977000	0.68977	9.420000	0.97426	2.756000	0.94617	0.563000	0.77884	CCC		0.478	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		5	163	5	163	---	---	---	---	T	10620399	G	T	10620399	3	4	9	1	0	0	0	0	1	0	0	0	7934	1232	43	1	256	1	JAG1	20	10620399	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	227205	10620399	52405121	866	1105										
ZNF337	26152	broad.mit.edu	37	chr20	25666253	25666253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctccccagggcacttccCcttgctctagccgcctgatg	8	18	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.chr20:25666253C>A	ENST00000376436.1	-	3	739	c.200G>T	c.(199-201)gGg>gTg	p.G67V	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000481610.1_5'UTR			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	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(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						GGGCACTTCCCCTTGCTCTAG	0.582																																						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.(199-201)gGg>gTg		zinc finger protein 337							145	147	147					20																	25666253		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666253C>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.200G>T	20.37:g.25666253C>A	ENSP00000365619:p.Gly67Val		Somatic				ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron	p.G67V			WXS	Illumina GAIIx	Phase_I					3	739	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.200G>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.469345	0.43839	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.01015	5.44;5.44	1.85	1.85	0.25348	Krueppel-associated box (3);	.	.	.	.	T	0.03477	0.0100	M	0.71920	2.185	0.29455	N	0.858163	D	0.69078	0.997	P	0.62491	0.903	T	0.16394	-1.0404	9	0.66056	D	0.02	.	8.9989	0.36069	0.0:1.0:0.0:0.0	.	67	Q9Y3M9	ZN337_HUMAN	V	67	ENSP00000365619:G67V;ENSP00000252979:G67V	ENSP00000252979:G67V	G	-	2	0	ZNF337	25614253	0.000000	0.05858	0.010000	0.14722	0.521000	0.34408	0.114000	0.15520	0.850000	0.35239	0.461000	0.40582	GGG		0.582	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			6	350	6	350	---	---	---	---	A	25666253	C	A	25666253	3	1	9	1	0	0	0	0	1	0	0	0	17850	623	22	1	2063	1	ZNF337	20	25666253	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	15045854	25666253	37359267	867	1106										
DLGAP4	22839	broad.mit.edu	37	chr20	35071155	35071155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggacaggcctccctgatccCccagttgtttggccatgagc	11	14	0	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.chr20:35071155C>A	ENST00000373907.2	+	5	1581	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	461					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)				TCCCTGATCCCCCAGTTGTTT	0.582																																						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.(1381-1383)cCc>cAc		discs, large (Drosophila) homolog-associated protein 4							629	592	605					20																	35071155		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35071155C>A	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.1382C>A	20.37:g.35071155C>A	ENSP00000363014:p.Pro461His		Somatic				DLGAP4_ENST00000373907.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H	p.P461H			WXS	Illumina GAIIx	Phase_I	Q9Y2H0	DLGP4_HUMAN			6	1862	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	461					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.1382C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162984	0.78226	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.17691	2.26;2.26;2.76;2.76	5.33	5.33	0.75918	.	0.209202	0.33199	N	0.005180	T	0.17066	0.0410	N	0.08118	0	0.40674	D	0.982242	D	0.54207	0.965	P	0.53313	0.723	T	0.12243	-1.0555	10	0.51188	T	0.08	.	15.73	0.77794	0.0:1.0:0.0:0.0	.	461	Q9Y2H0-1	.	H	461	ENSP00000363023:P461H;ENSP00000384954:P461H;ENSP00000363014:P461H;ENSP00000341633:P461H	ENSP00000341633:P461H	P	+	2	0	DLGAP4	34504569	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.680000	0.61656	2.488000	0.83962	0.455000	0.32223	CCC		0.582	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		17	1554	17	1554	---	---	---	---	A	35071155	C	A	35071155	3	1	9	1	0	0	0	0	1	0	0	0	4562	623	22	1	1396	1	DLGAP4	20	35071155	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9404902	35071155	27954365	868	1107										
RBL1	5933	broad.mit.edu	37	chr20	35627245	35627245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgacagacgcgtttggcagGggattctgcatcactatcga	12	9	2	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.chr20:35627245G>T	ENST00000373664.3	-	22	3190	c.3124C>A	c.(3124-3126)Cct>Act	p.P1042T		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1042					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)			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)				CGTTTGGCAGGGGATTCTGCA	0.398																																						ENST00000373664.3																			0				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.(3124-3126)Cct>Act		retinoblastoma-like 1 (p107)							239	197	211					20																	35627245		2203	4300	6503	SO:0001583	missense	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.chr20:35627245G>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.3124C>A	20.37:g.35627245G>T	ENSP00000362768:p.Pro1042Thr		Somatic					p.P1042T	NM_002895.2	NP_002886.2	WXS	Illumina GAIIx	Phase_I	P28749	RBL1_HUMAN			22	3190	-		Myeloproliferative disorder(115;0.00878)	1042					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.3124C>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352691	0.61293	.	.	ENSG00000080839	ENST00000373664	D	0.86865	-2.18	4.94	4.94	0.65067	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.80746	2.51	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.93280	0.6659	10	0.54805	T	0.06	-13.0256	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1042	P28749	RBL1_HUMAN	T	1042	ENSP00000362768:P1042T	ENSP00000362768:P1042T	P	-	1	0	RBL1	35060659	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.788000	0.85771	2.559000	0.86315	0.591000	0.81541	CCT		0.398	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	204	7	204	---	---	---	---	T	35627245	G	T	35627245	3	4	9	1	0	0	0	0	1	0	0	0	13109	1232	43	1	86	1	RBL1	20	35627245	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	556090	35627245	27398275	869	1108										
RBL1	5933	broad.mit.edu	37	chr20	35668629	35668629	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaggagacattggcatcagGggaagatgtccctgcacatt	13	8	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.chr20:35668629G>T	ENST00000373664.3	-	14	1896	c.1830C>A	c.(1828-1830)ccC>ccA	p.P610P	RBL1_ENST00000344359.3_Silent_p.P610P	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	610	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)			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)				TTGGCATCAGGGGAAGATGTC	0.403																																						ENST00000373664.3																			0				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.(1828-1830)ccC>ccA		retinoblastoma-like 1 (p107)							135	124	128					20																	35668629		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.chr20:35668629G>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.1830C>A	20.37:g.35668629G>T			Somatic				RBL1_ENST00000344359.3_Silent_p.P610P	p.P610P	NM_002895.2	NP_002886.2	WXS	Illumina GAIIx	Phase_I	P28749	RBL1_HUMAN			14	1896	-		Myeloproliferative disorder(115;0.00878)	610			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.1830C>A	CCDS13289.1																																																																																				0.403	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		6	249	6	249	---	---	---	---	T	35668629	G	T	35668629	2	4	9	1	0	0	0	0	0	0	0	1	13109	1219	43	1		1	RBL1	20	35668629	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	41384	35668629	27356891	870	1109										
RALGAPB	57148	broad.mit.edu	37	chr20	37121612	37121612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taatttgctatggactgaccCttccattggatggagagact	10	8	0	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.chr20:37121612C>A	ENST00000262879.6	+	3	510	c.226C>A	c.(226-228)Ctt>Att	p.L76I	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	76					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						TGGACTGACCCTTCCATTGGA	0.353																																						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.(226-228)Ctt>Att		Ral GTPase activating protein, beta subunit (non-catalytic)							181	182	181					20																	37121612		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121612C>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.226C>A	20.37:g.37121612C>A	ENSP00000262879:p.Leu76Ile		Somatic				RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I	p.L76I			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			3	510	+			76					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.226C>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260681	0.95368	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.77557	0.99;0.99;0.99;0.99	D	0.83641	0.0150	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	76;76;76;76	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	I	76	.	ENSP00000262879:L76I	L	+	1	0	RALGAPB	36555026	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.070000	0.71220	2.941000	0.99782	0.655000	0.94253	CTT		0.353	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	363	6	363	---	---	---	---	A	37121612	C	A	37121612	3	1	9	1	0	0	0	0	1	0	0	0	13015	681	24	1	232	1	RALGAPB	20	37121612	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1452983	37121612	25903908	871	1110										
ZHX3	23051	broad.mit.edu	37	chr20	39830761	39830761	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagctggcctcagggacacgGggctcccacgactcactgtt	13	14	2	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.chr20:39830761G>T	ENST00000309060.3	-	4	3211	c.2796C>A	c.(2794-2796)ccC>ccA	p.P932P	ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	932					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)				CAGGGACACGGGGCTCCCACG	0.597																																						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.(2794-2796)ccC>ccA		zinc fingers and homeoboxes 3							92	84	87					20																	39830761		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.chr20:39830761G>T	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.2796C>A	20.37:g.39830761G>T			Somatic				ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P	p.P932P			WXS	Illumina GAIIx	Phase_I	Q9H4I2	ZHX3_HUMAN			4	3211	-		Myeloproliferative disorder(115;0.00425)	932					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.2796C>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201218	0.06219	.	.	ENSG00000174306	ENST00000421422	T	0.09538	2.97	6.02	-5.25	0.02781	.	0.510922	0.20501	N	0.091082	T	0.08935	0.0221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	7	0.45353	T	0.12	-8.1547	0.5928	0.00731	0.3498:0.1777:0.1265:0.3459	.	.	.	.	T	641	ENSP00000405421:P641T	ENSP00000405421:P641T	P	-	1	0	ZHX3	39264175	.	.	0.004000	0.12327	0.950000	0.60333	.	.	-1.044000	0.03254	0.655000	0.94253	CCG		0.597	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	150	5	150	---	---	---	---	T	39830761	G	T	39830761	2	4	9	1	0	0	0	0	0	0	0	1	17674	1219	43	1		1	ZHX3	20	39830761	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2709149	39830761	23194759	872	1111										
CHD6	84181	broad.mit.edu	37	chr20	40049243	40049243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccttcaagaggatatgtgGggaaaacgttttgcccctct	10	9	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.chr20:40049243G>T	ENST00000373233.3	-	31	6209	c.6032C>A	c.(6031-6033)cCc>cAc	p.P2011H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2011					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)				AGGATATGTGGGGAAAACGTT	0.418																																						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.(6031-6033)cCc>cAc		chromodomain helicase DNA binding protein 6							118	109	112					20																	40049243		2203	4300	6503	SO:0001583	missense	84181				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.chr20:40049243G>T	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.6032C>A	20.37:g.40049243G>T	ENSP00000362330:p.Pro2011His		Somatic					p.P2011H	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			31	6209	-		Myeloproliferative disorder(115;0.00425)	2011					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6032C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	7.268	0.606535	0.14002	.	.	ENSG00000124177	ENST00000373233	D	0.85556	-2.0	6.07	3.07	0.35406	.	0.436913	0.21602	N	0.071926	T	0.75503	0.3858	L	0.36672	1.1	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.63359	-0.6655	10	0.45353	T	0.12	-1.2575	6.198	0.20559	0.0703:0.1338:0.6566:0.1393	.	2011	Q8TD26	CHD6_HUMAN	H	2011	ENSP00000362330:P2011H	ENSP00000362330:P2011H	P	-	2	0	CHD6	39482657	0.298000	0.24417	0.033000	0.17914	0.518000	0.34316	2.414000	0.44627	0.440000	0.26502	0.655000	0.94253	CCC		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	185	5	185	---	---	---	---	T	40049243	G	T	40049243	3	4	9	1	0	0	0	0	1	0	0	0	3329	1232	43	1	2143	1	CHD6	20	40049243	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	218482	40049243	22976277	873	1112										
PABPC1L	80336	broad.mit.edu	37	chr20	43545423	43545423	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgacgagcatggctcccgGggtttcggctttgtccattt	13	10	0	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.chr20:43545423G>T	ENST00000217073.2	+	3	414	c.414G>T	c.(412-414)cgG>cgT	p.R138R	PABPC1L_ENST00000255136.3_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ATGGCTCCCGGGGTTTCGGCT	0.557																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(412-414)cgG>cgT		poly(A) binding protein, cytoplasmic 1-like							152	137	142					20																	43545423		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43545423G>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.414G>T	20.37:g.43545423G>T			Somatic				PABPC1L_ENST00000217073.2_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R	p.R138R	NM_001124756.1	NP_001118228.1	WXS	Illumina GAIIx	Phase_I	Q4VXU2	PAP1L_HUMAN			3	496	+			138			RRM 2.		Q4VY17	Silent	SNP	ENST00000217073.2	37	c.414G>T	CCDS42878.1																																																																																				0.557	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			7	286	7	286	---	---	---	---	T	43545423	G	T	43545423	2	4	9	1	0	0	0	0	0	0	0	1	11364	1219	43	1		1	PABPC1L	20	43545423	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3496180	43545423	19480097	874	1113										
NCOA3	8202	broad.mit.edu	37	chr20	46262785	46262785	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtgatgggatattttccCcaacagcttatcttaatggc	8	10	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.chr20:46262785C>A	ENST00000371998.3	+	10	1155				NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T|NCOA3_ENST00000341724.6_Missense_Mutation_p.P330T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						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						GATATTTTCCCCAACAGCTTA	0.403																																						ENST00000341724.6																			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.(988-990)Cca>Aca		nuclear receptor coactivator 3							108	102	104					20																	46262785		2203	4300	6503	SO:0001627	intron_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.chr20:46262785C>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.965-7C>A	20.37:g.46262785C>A			Somatic				NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T	p.P330T			WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			10	1249	+			321					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.988C>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529993	0.27387	.	.	ENSG00000124151	ENST00000341724;ENST00000371997	T;T	0.01947	4.54;4.55	5.12	0.828	0.18841	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B	0.23249	0.082	B	0.18871	0.023	T	0.46176	-0.9210	9	0.87932	D	0	.	9.5944	0.39565	0.0:0.6085:0.0:0.3915	.	330	Q9Y6Q9-3	.	T	330	ENSP00000342123:P330T;ENSP00000361065:P330T	ENSP00000342123:P330T	P	+	1	0	NCOA3	45696192	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.294000	0.19047	0.133000	0.18654	-0.982000	0.02568	CCA		0.403	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	259	6	259	---	---	---	---	A	46262785	C	A	46262785	1	1	9	0	1	0	0	0	0	0	0	0	10230	623	22	1		1	NCOA3	20	46262785	Intron	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2717362	46262785	16762735	875	1114										
ATP9A	10079	broad.mit.edu	37	chr20	50245576	50245576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatgaccacatctgctccCttcatgtaaaacgtaatttc	5	13	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.chr20:50245576C>A	ENST00000338821.5	-	16	1968	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N|ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	568					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						CATCTGCTCCCTTCATGTAAA	0.488																																						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.(1702-1704)aaG>aaT		ATPase, class II, type 9A							230	183	199					20																	50245576		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.chr20:50245576C>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.1704G>T	20.37:g.50245576C>A	ENSP00000342481:p.Lys568Asn		Somatic				ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N	p.K568N	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			16	1968	-			568					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1704G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477113	0.63849	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.85861	-2.04;-2.04;-2.04	5.08	5.08	0.68730	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058306	0.64402	D	0.000001	D	0.95310	0.8478	H	0.99487	4.59	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.77557	0.978;0.99	D	0.95643	0.8700	10	0.87932	D	0	-35.5118	9.3059	0.37874	0.0:0.8392:0.0:0.1608	.	447;568	O75110-2;O75110	.;ATP9A_HUMAN	N	432;568;447	ENSP00000309086:K432N;ENSP00000342481:K568N;ENSP00000385875:K447N	ENSP00000309086:K432N	K	-	3	2	ATP9A	49678983	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	0.677000	0.25262	2.335000	0.79485	0.563000	0.77884	AAG		0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		5	255	5	255	---	---	---	---	A	50245576	C	A	50245576	3	1	9	1	0	0	0	0	1	0	0	0	1198	680	24	1	1491	1	ATP9A	20	50245576	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3982791	50245576	12779944	876	1115										
APCDD1L	164284	broad.mit.edu	37	chr20	57036205	57036205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgcccatggaccaggcccCcgcacccccacagctgcttg	10	19	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.chr20:57036205C>A	ENST00000371149.3	-	4	1377	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W	APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	383						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACCAGGCCCCCGCACCCCCA	0.632																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1147-1149)Ggg>Tgg		adenomatosis polyposis coli down-regulated 1-like							50	56	54					20																	57036205		2203	4299	6502	SO:0001583	missense	164284					integral to membrane		g.chr20:57036205C>A	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1147G>T	20.37:g.57036205C>A	ENSP00000360191:p.Gly383Trp		Somatic				APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR	p.G383W	NM_153360.1	NP_699191.1	WXS	Illumina GAIIx	Phase_I	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1377	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		383						Missense_Mutation	SNP	ENST00000371149.3	37	c.1147G>T	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119440	0.56505	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17213	2.29;2.29	4.35	4.35	0.52113	.	0.059585	0.64402	D	0.000003	T	0.44829	0.1312	M	0.85630	2.765	0.47276	D	0.999377	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51671	-0.8676	10	0.87932	D	0	-30.4547	12.4846	0.55866	0.0:0.9153:0.0:0.0847	.	394;383	F5H6V6;Q8NCL9	.;APCDL_HUMAN	W	383;394	ENSP00000360191:G383W;ENSP00000413261:G394W	ENSP00000360191:G383W	G	-	1	0	APCDD1L	56469611	0.976000	0.34144	0.711000	0.30485	0.524000	0.34500	3.365000	0.52335	1.992000	0.58205	0.557000	0.71058	GGG		0.632	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		5	111	5	111	---	---	---	---	A	57036205	C	A	57036205	3	1	9	1	0	0	0	0	1	0	0	0	766	623	22	1	362	1	APCDD1L	20	57036205	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6790629	57036205	5989315	877	1116										
TMPRSS15	5651	broad.mit.edu	37	chr21	19716360	19716360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccctcctggtccagttgGggtagaaatgtaaaatcctg	10	10	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.chr21:19716360G>T	ENST00000284885.3	-	11	1222	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					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						GGTCCAGTTGGGGTAGAAATG	0.393																																						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.(1189-1191)Cca>Aca		transmembrane protease, serine 15							75	79	78					21																	19716360		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19716360G>T		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.1189C>A	21.37:g.19716360G>T	ENSP00000284885:p.Pro397Thr		Somatic					p.P397T	NM_002772.2	NP_002763	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			11	1222	-			397			MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1189C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511056	0.64522	.	.	ENSG00000154646	ENST00000284885	T	0.01981	4.52	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	M	0.84683	2.71	0.48452	D	0.999654	D	0.76494	0.999	D	0.70716	0.97	T	0.00130	-1.2014	9	.	.	.	.	16.4081	0.83697	0.0:0.0:1.0:0.0	.	397	P98073	ENTK_HUMAN	T	397	ENSP00000284885:P397T	.	P	-	1	0	TMPRSS15	18638231	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.964000	0.63701	2.633000	0.89246	0.460000	0.39030	CCA		0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	215	6	215	---	---	---	---	T	19716360	G	T	19716360	3	4	9	1	0	0	0	0	1	0	0	0	16243	1232	43	1	1930	1	TMPRSS15	21	19716360	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		19716360	28413535	878	1117										
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgtaggtagttgagcagGggttggaaatacaggtagtt	17	3	0	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.chr21:32253560G>T	ENST00000332378.4	-	1	314	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	95						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P95H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572																																						ENST00000332378.4																			1	Substitution - Missense(1)	p.P95H(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(283-285)cCc>cAc		keratin associated protein 11-1							85	83	84					21																	32253560		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253560G>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.284C>A	21.37:g.32253560G>T	ENSP00000330720:p.Pro95His		Somatic					p.P95H	NM_175858.2	NP_787054.1	WXS	Illumina GAIIx	Phase_I	Q8IUC1	KR111_HUMAN			1	314	-			95					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.284C>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135079	0.56828	.	.	ENSG00000182591	ENST00000332378	T	0.04654	3.58	5.4	5.4	0.78164	.	0.922491	0.09256	N	0.827275	T	0.29524	0.0736	M	0.87547	2.89	0.40130	D	0.976708	D	0.89917	1.0	D	0.79108	0.992	T	0.00724	-1.1593	10	0.62326	D	0.03	-19.5167	17.0969	0.86637	0.0:0.0:1.0:0.0	.	95	Q8IUC1	KR111_HUMAN	H	95	ENSP00000330720:P95H	ENSP00000330720:P95H	P	-	2	0	KRTAP11-1	31175431	1.000000	0.71417	0.879000	0.34478	0.534000	0.34807	4.048000	0.57390	2.722000	0.93159	0.650000	0.86243	CCC		0.572	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			4	71	4	71	---	---	---	---	T	32253560	G	T	32253560	3	4	9	1	0	0	0	0	1	0	0	0	8517	1232	43	1	211	1	KRTAP11-1	21	32253560	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	12537200	32253560	15876335	879	1118										
SON	6651	broad.mit.edu	37	chr21	34922453	34922453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttagagccttcagaaaccCttgtggtatcatcagagaca	9	9	3	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.chr21:34922453C>A	ENST00000356577.4	+	3	1391	c.916C>A	c.(916-918)Ctt>Att	p.L306I	SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000381679.4_Missense_Mutation_p.L306I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	306					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						TTCAGAAACCCTTGTGGTATC	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										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.(916-918)Ctt>Att		SON DNA binding protein							72	70	71					21																	34922453		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.chr21:34922453C>A	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.916C>A	21.37:g.34922453C>A	ENSP00000348984:p.Leu306Ile		Somatic	OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron	p.L306I	NM_138927.1	NP_620305	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			3	1391	+			306					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.916C>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869737	0.33069	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.13089	2.79;2.79;2.79;2.62	5.54	1.0	0.19881	.	0.830232	0.10642	N	0.650892	T	0.11110	0.0271	N	0.24115	0.695	0.09310	N	1	D;D;P	0.57257	0.964;0.979;0.919	B;P;B	0.50109	0.428;0.631;0.255	T	0.21793	-1.0235	10	0.30854	T	0.27	.	3.6828	0.08317	0.0:0.476:0.1855:0.3385	.	306;306;306	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	I	306	ENSP00000348984:L306I;ENSP00000290239:L306I;ENSP00000300278:L306I;ENSP00000371095:L306I	ENSP00000290239:L306I	L	+	1	0	SON	33844323	0.002000	0.14202	0.473000	0.27253	0.997000	0.91878	-0.000000	0.12993	0.366000	0.24427	0.561000	0.74099	CTT		0.463	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	139	4	139	---	---	---	---	A	34922453	C	A	34922453	3	1	9	1	0	0	0	0	1	0	0	0	14926	681	24	1	926	1	SON	21	34922453	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2668893	34922453	13207442	880	1119										
ITSN1	6453	broad.mit.edu	37	chr21	35247673	35247673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtagatcctggaaaacaccCctgaaaaccacccggaccac	7	15	0	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.chr21:35247673C>A	ENST00000381318.3	+	34	4477	c.4189C>A	c.(4189-4191)Cct>Act	p.P1397T	ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1397	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						GGAAAACACCCCTGAAAACCA	0.577																																						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.(4189-4191)Cct>Act		intersectin 1 (SH3 domain protein)							82	74	77					21																	35247673		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.chr21:35247673C>A	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.4189C>A	21.37:g.35247673C>A	ENSP00000370719:p.Pro1397Thr		Somatic				AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000399326.3_3'UTR	p.P1397T	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	Q15811	ITSN1_HUMAN			34	4477	+			1397			DH.		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.4189C>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004407	0.74932	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73248	-0.4043	10	0.87932	D	0	.	19.5863	0.95490	0.0:1.0:0.0:0.0	.	1392;1397	A8CTX8;Q15811	.;ITSN1_HUMAN	T	1397;1397;1326;1392;4	ENSP00000370719:P1397T;ENSP00000370685:P1397T;ENSP00000382301:P1392T;ENSP00000409800:P4T	ENSP00000370685:P1397T	P	+	1	0	ITSN1	34169543	0.997000	0.39634	0.988000	0.46212	0.915000	0.54546	3.686000	0.54685	2.621000	0.88768	0.655000	0.94253	CCT		0.577	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		5	106	5	106	---	---	---	---	A	35247673	C	A	35247673	3	1	9	1	0	0	0	0	1	0	0	0	7926	623	22	1	4325	1	ITSN1	21	35247673	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	325220	35247673	12882222	881	1120										
SLC5A3	6526	broad.mit.edu	37	chr21	35467811	35467811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaatttacatccggtcagGggtatataccatgcctgaat	8	11	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.chr21:35467811G>T	ENST00000381151.3	+	2	826	c.314G>T	c.(313-315)gGg>gTg	p.G105V	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.G105V			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	105					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453																																						ENST00000608209.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(313-315)gGg>gTg		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							184	180	181					21																	35467811		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467811G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.314G>T	21.37:g.35467811G>T	ENSP00000370543:p.Gly105Val		Somatic				SLC5A3_ENST00000381151.3_Missense_Mutation_p.G105V|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	p.G105V	NM_006933.4	NP_008864.3	WXS	Illumina GAIIx	Phase_I	P53794	SC5A3_HUMAN			2	826	+								O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.314G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088655	0.55968	.	.	ENSG00000198743	ENST00000381151	D	0.91124	-2.79	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97962	1.0338	10	0.87932	D	0	.	15.9157	0.79517	0.0:0.1355:0.8645:0.0	.	105	P53794	SC5A3_HUMAN	V	105	ENSP00000370543:G105V	ENSP00000370543:G105V	G	+	2	0	SLC5A3	34389681	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.858000	0.99539	1.495000	0.48549	0.609000	0.83330	GGG		0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			13	421	13	421	---	---	---	---	T	35467811	G	T	35467811	3	4	9	1	0	0	0	0	1	0	0	0	14666	1232	43	1	316	1	SLC5A3	21	35467811	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	220138	35467811	12662084	882	1121										
SLC5A3	6526	broad.mit.edu	37	chr21	35468305	35468305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattcattcttgggcagaccCcagcttcagtatggtactgg	11	10	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.chr21:35468305C>A	ENST00000381151.3	+	2	1320	c.808C>A	c.(808-810)Cca>Aca	p.P270T	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.P270T			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	270					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAGACCCCAGCTTCAGT	0.483																																						ENST00000608209.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(808-810)Cca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							99	94	96					21																	35468305		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468305C>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.808C>A	21.37:g.35468305C>A	ENSP00000370543:p.Pro270Thr		Somatic				SLC5A3_ENST00000381151.3_Missense_Mutation_p.P270T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	p.P270T	NM_006933.4	NP_008864.3	WXS	Illumina GAIIx	Phase_I	P53794	SC5A3_HUMAN			2	1320	+								O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.808C>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211246	0.58343	.	.	ENSG00000198743	ENST00000381151	D	0.87650	-2.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.53617	1.68	0.58432	D	0.999999	P	0.45240	0.854	P	0.44772	0.46	D	0.87847	0.2655	10	0.52906	T	0.07	.	18.663	0.91478	0.0:1.0:0.0:0.0	.	270	P53794	SC5A3_HUMAN	T	270	ENSP00000370543:P270T	ENSP00000370543:P270T	P	+	1	0	SLC5A3	34390175	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.699000	0.92147	0.609000	0.83330	CCA		0.483	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			6	199	6	199	---	---	---	---	A	35468305	C	A	35468305	3	1	9	1	0	0	0	0	1	0	0	0	14666	623	22	1	810	1	SLC5A3	21	35468305	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	494	35468305	12661590	883	1122										
UMODL1	89766	broad.mit.edu	37	chr21	43541262	43541262	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcctgtcgaaacaccctcGggtctttcacttgtagctgc	8	14	2	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.chr21:43541262G>T	ENST00000408910.2	+	16	2755	c.2755G>T	c.(2755-2757)Ggg>Tgg	p.G919W	UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400424.2_Missense_Mutation_p.G847W	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	919	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						AAACACCCTCGGGTCTTTCAC	0.498																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			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.(2539-2541)Ggg>Tgg		uromodulin-like 1							120	123	122					21																	43541262		1891	4114	6005	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43541262G>T		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.2755G>T	21.37:g.43541262G>T	ENSP00000386147:p.Gly919Trp		Somatic				UMODL1_ENST00000408910.2_Missense_Mutation_p.G919W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W	p.G847W	NM_001199528.2	NP_001186457	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			16	2935	+						SEA 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2539G>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075531	0.36662	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17	3.87	3.87	0.44632	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45867	D	0.000325	D	0.99687	0.9882	H	0.94771	3.58	0.28300	N	0.923132	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.96513	0.9380	9	.	.	.	-20.3246	13.6932	0.62559	0.0:0.0:1.0:0.0	.	1047;919	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	W	975;847;1047;919	ENSP00000383279:G975W;ENSP00000383276:G847W;ENSP00000386126:G1047W;ENSP00000386147:G919W	.	G	+	1	0	UMODL1	42414331	0.999000	0.42202	0.201000	0.23476	0.249000	0.25844	5.039000	0.64185	2.471000	0.83476	0.449000	0.29647	GGG		0.498	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	225	5	225	---	---	---	---	T	43541262	G	T	43541262	3	4	9	1	0	0	0	0	1	0	0	0	16977	1116	39	1	3197	1	UMODL1	21	43541262	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	8072957	43541262	4588633	884	1123										
UMODL1	89766	broad.mit.edu	37	chr21	43543034	43543034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgtgcaaggcaccagccCcaccccccaaggcctgcccc	8	21	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.chr21:43543034C>A	ENST00000408910.2	+	17	2921	c.2921C>A	c.(2920-2922)cCc>cAc	p.P974H	UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400424.2_Missense_Mutation_p.P902H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	974					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						GGCACCAGCCCCACCCCCCAA	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			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.(2704-2706)cCc>cAc		uromodulin-like 1							48	53	51					21																	43543034		2054	4202	6256	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543034C>A		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.2921C>A	21.37:g.43543034C>A	ENSP00000386147:p.Pro974His		Somatic				UMODL1_ENST00000408910.2_Missense_Mutation_p.P974H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H	p.P902H	NM_001199528.2	NP_001186457	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			17	3101	+						EGF-like 3; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2705C>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665188	0.29604	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.73152	-0.71;-0.72;-0.71;-0.71	2.93	-0.00552	0.14017	.	1.303970	0.05746	N	0.602271	T	0.61350	0.2340	N	0.24115	0.695	0.09310	N	1	D;P	0.55385	0.971;0.883	P;B	0.50490	0.642;0.438	T	0.51505	-0.8697	9	.	.	.	-2.2309	3.8143	0.08809	0.1903:0.5886:0.0:0.2211	.	1102;974	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1030;902;1102;974	ENSP00000383279:P1030H;ENSP00000383276:P902H;ENSP00000386126:P1102H;ENSP00000386147:P974H	.	P	+	2	0	UMODL1	42416103	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.654000	0.05354	-0.012000	0.14223	0.297000	0.19635	CCC		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	58	5	58	---	---	---	---	A	43543034	C	A	43543034	3	1	9	1	0	0	0	0	1	0	0	0	16977	623	22	1	3367	1	UMODL1	21	43543034	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1772	43543034	4586861	885	1124										
ADARB1	104	broad.mit.edu	37	chr21	46642109	46642109	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccagttctcactcacgccCtgacccgggcagacatgatg	10	15	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.chr21:46642109C>A	ENST00000360697.3	+	10	2238	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ADARB1_ENST00000539173.1_Silent_p.P741P|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	741					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CACTCACGCCCTGACCCGGGC	0.652																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(2221-2223)ccC>ccA		adenosine deaminase, RNA-specific, B1							24	21	22					21																	46642109		2200	4298	6498	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46642109C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.2223C>A	21.37:g.46642109C>A			Somatic				ADARB1_ENST00000360697.3_Silent_p.P741P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000437626.1_3'UTR	p.P741P	NM_015833.3	NP_056648.1	WXS	Illumina GAIIx	Phase_I	P78563	RED1_HUMAN		Colorectal(79;0.115)	12	2658	+			741					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.2223C>A	CCDS33589.1																																																																																				0.652	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		4	27	4	27	---	---	---	---	A	46642109	C	A	46642109	2	1	9	1	0	0	0	0	0	0	0	1	282	668	24	1		1	ADARB1	21	46642109	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3099075	46642109	1487786	886	1125										
LSS	4047	broad.mit.edu	37	chr21	47615609	47615609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccatctcggtaggtctgccCcatacaggcgaaggcctcca	10	16	2	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.chr21:47615609C>A	ENST00000397728.3	-	19	1876	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	LSS_ENST00000457828.2_Missense_Mutation_p.G520W|AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	600					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)					TAGGTCTGCCCCATACAGGCG	0.577																																					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.(1798-1800)Ggg>Tgg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							127	109	115					21																	47615609		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47615609C>A	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.1798G>T	21.37:g.47615609C>A	ENSP00000380837:p.Gly600Trp		Somatic				LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W	p.G600W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	WXS	Illumina GAIIx	Phase_I	P48449	ERG7_HUMAN			19	1876	-	Breast(49;0.214)		600					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1798G>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351284	0.61183	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.61	4.67	0.58626	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.095198	0.64402	D	0.000001	T	0.77491	0.4138	H	0.98295	4.195	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.86107	0.1560	10	0.87932	D	0	.	15.0033	0.71492	0.0:0.7783:0.2217:0.0	.	589;600	E9PEI9;P48449	.;ERG7_HUMAN	W	600;520;600;589	ENSP00000348762:G600W;ENSP00000409191:G520W;ENSP00000380837:G600W;ENSP00000429133:G589W	ENSP00000348762:G600W	G	-	1	0	LSS	46440037	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.656000	0.61483	2.633000	0.89246	0.655000	0.94253	GGG		0.577	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			5	121	5	121	---	---	---	---	A	47615609	C	A	47615609	3	1	9	1	0	0	0	0	1	0	0	0	9065	623	22	1	416	1	LSS	21	47615609	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	973500	47615609	514286	887	1126										
DIP2A	23181	broad.mit.edu	37	chr21	47957170	47957170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacgtgctggatttcaaaaGggatgctggtctgtggcatg	14	6	2	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.chr21:47957170G>T	ENST00000417564.2	+	14	1697	c.1676G>T	c.(1675-1677)aGg>aTg	p.R559M	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000318711.7_Missense_Mutation_p.R560M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	559					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)		GATTTCAAAAGGGATGCTGGT	0.458																																						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.(1678-1680)aGg>aTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							298	305	303					21																	47957170		2113	4236	6349	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47957170G>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.1676G>T	21.37:g.47957170G>T	ENSP00000392066:p.Arg559Met		Somatic				DIP2A_ENST00000417564.2_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M	p.R560M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina GAIIx	Phase_I	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)	14	1862	+	Breast(49;0.0933)		559					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1679G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679913	0.88542	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.44	5.44	0.79542	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;P	0.89917	0.984;0.998;1.0;0.985;0.998;0.903	D;D;D;D;D;P	0.91635	0.95;0.98;0.999;0.934;0.967;0.557	T	0.74447	-0.3662	10	0.66056	D	0.02	-30.4344	18.2394	0.89961	0.0:0.0:1.0:0.0	.	560;495;516;559;559;559	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	M	555;495;560;516;559;516;559;559	ENSP00000383133:R555M;ENSP00000400528:R495M;ENSP00000323633:R560M;ENSP00000393434:R559M;ENSP00000430249:R516M;ENSP00000415089:R559M;ENSP00000392066:R559M	ENSP00000323633:R560M	R	+	2	0	DIP2A	46781598	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.616000	0.46376	2.554000	0.86153	0.591000	0.81541	AGG		0.458	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		7	514	7	514	---	---	---	---	T	47957170	G	T	47957170	3	4	9	1	0	0	0	0	1	0	0	0	4527	1000	35	1	1730	1	DIP2A	21	47957170	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	341561	47957170	172725	888	1127										
MRPL40	64976	broad.mit.edu	37	chr22	19423373	19423373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgggatcctaacctgttccCctttgagaaggaagggccac	12	12	0	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.chr22:19423373C>A	ENST00000333130.3	+	4	1162	c.509C>A	c.(508-510)cCc>cAc	p.P170H	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	170					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)					AACCTGTTCCCCTTTGAGAAG	0.542																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(508-510)cCc>cAc		mitochondrial ribosomal protein L40							143	128	133					22																	19423373		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423373C>A	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.509C>A	22.37:g.19423373C>A	ENSP00000333401:p.Pro170His		Somatic				HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	p.P170H	NM_003776.2	NP_003767.2	WXS	Illumina GAIIx	Phase_I	Q9NQ50	RM40_HUMAN			4	1162	+	Colorectal(54;0.0993)		170					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.509C>A	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265961	0.80358	.	.	ENSG00000185608	ENST00000333130	T	0.81415	-1.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93013	0.6433	10	0.87932	D	0	-17.8039	19.2614	0.93970	0.0:1.0:0.0:0.0	.	170	Q9NQ50	RM40_HUMAN	H	170	ENSP00000333401:P170H	ENSP00000333401:P170H	P	+	2	0	MRPL40	17803373	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	7.064000	0.76721	2.769000	0.95229	0.655000	0.94253	CCC		0.542	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		4	80	4	80	---	---	---	---	A	19423373	C	A	19423373	3	1	9	1	0	0	0	0	1	0	0	0	9804	623	22	1	523	1	MRPL40	22	19423373	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		19423373	31881193	889	1128										
CDC45	8318	broad.mit.edu	37	chr22	19504130	19504130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catggcacagtgaccgtggtGggcatccccccagagaccga	13	14	0	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.chr22:19504130G>T	ENST00000407835.1	+	17	1777	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000263201.1_Silent_p.V507V|CDC45_ENST00000404724.3_Silent_p.V461V			O75419	CDC45_HUMAN	cell division cycle 45	507					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGACCGTGGTGGGCATCCCCC	0.612																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1519-1521)gtG>gtT		cell division cycle 45							62	64	63					22																	19504130		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|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	centrosome|nucleoplasm	protein binding	g.chr22:19504130G>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1521G>T	22.37:g.19504130G>T			Somatic				CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V	p.V507V			WXS	Illumina GAIIx	Phase_I	O75419	CDC45_HUMAN			17	1777	+			507					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1521G>T	CCDS13762.1																																																																																				0.612	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		4	60	4	60	---	---	---	---	T	19504130	G	T	19504130	2	4	9	1	0	0	0	0	0	0	0	1	3081	1335	47	1		1	CDC45	22	19504130	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	80757	19504130	31800436	890	1129										
SEZ6L	23544	broad.mit.edu	37	chr22	26688975	26688975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacatggcccaggaggcccCccaggaggacaccagcccca	12	17	0	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.chr22:26688975C>A	ENST00000248933.6	+	2	793	c.698C>A	c.(697-699)cCc>cAc	p.P233H	SEZ6L_ENST00000529632.2_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	233					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						CAGGAGGCCCCCCAGGAGGAC	0.632																																						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.(697-699)cCc>cAc		seizure related 6 homolog (mouse)-like							33	35	35					22																	26688975		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688975C>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.698C>A	22.37:g.26688975C>A	ENSP00000248933:p.Pro233His		Somatic				SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H	p.P233H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			2	894	+			233					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.698C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853971	0.51270	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29917	1.86;1.99;2.04;1.88;1.62;1.55;1.78	4.73	3.71	0.42584	.	1.239710	0.06037	N	0.654145	T	0.27384	0.0672	N	0.08118	0	0.35387	D	0.790415	D;P;B;D;D;P;P	0.64830	0.97;0.927;0.07;0.963;0.994;0.856;0.856	P;P;B;P;P;B;B	0.52856	0.498;0.498;0.112;0.621;0.711;0.417;0.417	T	0.16424	-1.0403	10	0.15499	T	0.54	.	12.4202	0.55516	0.0:0.9176:0.0:0.0824	.	233;233;6;233;233;233;233	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	H	233;233;233;233;233;6;6	ENSP00000384772:P233H;ENSP00000437037:P233H;ENSP00000354185:P233H;ENSP00000248933:P233H;ENSP00000342661:P233H;ENSP00000384838:P6H;ENSP00000384733:P6H	ENSP00000248933:P233H	P	+	2	0	SEZ6L	25018975	0.068000	0.21057	0.001000	0.08648	0.018000	0.09664	4.610000	0.61155	1.116000	0.41820	0.508000	0.49915	CCC		0.632	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	73	4	73	---	---	---	---	A	26688975	C	A	26688975	3	1	9	1	0	0	0	0	1	0	0	0	14143	623	22	1	704	1	SEZ6L	22	26688975	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7184845	26688975	24615591	891	1130										
SRRD	402055	broad.mit.edu	37	chr22	26884425	26884425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaattgaagtccttaacaccCttggtgtgactgttctcagt	8	9	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.chr22:26884425C>A	ENST00000215917.7	+	4	594	c.580C>A	c.(580-582)Ctt>Att	p.L194I		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	194					rhythmic process (GO:0048511)			p.L194I(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTAACACCCTTGGTGTGAC	0.458																																						ENST00000215917.7																			1	Substitution - Missense(1)	p.L194I(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(580-582)Ctt>Att		SRR1 domain containing							159	158	158					22																	26884425		1918	4127	6045	SO:0001583	missense	402055				rhythmic process			g.chr22:26884425C>A	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.580C>A	22.37:g.26884425C>A	ENSP00000215917:p.Leu194Ile		Somatic					p.L194I	NM_001013694.2	NP_001013716.2	WXS	Illumina GAIIx	Phase_I	Q9UH36	SRR1L_HUMAN			4	594	+								Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.580C>A	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445135	0.83993	.	.	ENSG00000100104	ENST00000215917	T	0.58210	0.35	5.26	4.23	0.50019	Sensitivity To Red Light Reduced-like, SRR1 (1);	0.069112	0.64402	D	0.000014	T	0.69233	0.3088	M	0.76574	2.34	0.49213	D	0.999764	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	T	0.69815	-0.5043	10	0.48119	T	0.1	-22.7721	13.085	0.59135	0.0:0.9206:0.0:0.0794	.	194;187	Q9UH36;B4DF37	SRR1L_HUMAN;.	I	194	ENSP00000215917:L194I	ENSP00000215917:L194I	L	+	1	0	SRRD	25214425	0.976000	0.34144	0.445000	0.26908	0.235000	0.25334	2.423000	0.44705	2.734000	0.93682	0.655000	0.94253	CTT		0.458	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		6	307	6	307	---	---	---	---	A	26884425	C	A	26884425	3	1	9	1	0	0	0	0	1	0	0	0	15166	681	24	1	594	1	SRRD	22	26884425	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	195450	26884425	24420141	892	1131										
CRYBA4	1413	broad.mit.edu	37	chr22	27021546	27021546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcggcaacacggcctaccCcgccgagaggctcacctcct	12	18	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.chr22:27021546C>A	ENST00000354760.3	+	4	295	c.260C>A	c.(259-261)cCc>cAc	p.P87H	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	87	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACGGCCTACCCCGCCGAGAGG	0.632																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(259-261)cCc>cAc		crystallin, beta A4							113	115	114					22																	27021546		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021546C>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.260C>A	22.37:g.27021546C>A	ENSP00000346805:p.Pro87His		Somatic				CRYBA4_ENST00000466315.1_3'UTR	p.P87H	NM_001886.2	NP_001877.1	WXS	Illumina GAIIx	Phase_I	P53673	CRBA4_HUMAN			4	295	+			87			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.260C>A	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	C	0.736	-0.778078	0.02929	.	.	ENSG00000196431	ENST00000354760	T	0.75704	-0.96	4.43	3.35	0.38373	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.113351	0.64402	D	0.000016	T	0.31136	0.0787	N	0.00096	-2.155	0.40220	D	0.977726	B	0.02656	0.0	B	0.06405	0.002	T	0.37820	-0.9689	10	0.23891	T	0.37	.	8.9977	0.36063	0.3317:0.6683:0.0:0.0	.	87	P53673	CRBA4_HUMAN	H	87	ENSP00000346805:P87H	ENSP00000346805:P87H	P	+	2	0	CRYBA4	25351546	0.997000	0.39634	0.928000	0.36995	0.006000	0.05464	3.632000	0.54287	2.304000	0.77564	0.561000	0.74099	CCC		0.632	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		7	202	7	202	---	---	---	---	A	27021546	C	A	27021546	3	1	9	1	0	0	0	0	1	0	0	0	3909	623	22	1	270	1	CRYBA4	22	27021546	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	137121	27021546	24283020	893	1132										
THOC5	8563	broad.mit.edu	37	chr22	29907141	29907141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggggaaattccttgggccCctccacactgtcgtcatggc	11	14	1	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.chr22:29907141C>A	ENST00000490103.1	-	19	2064	c.1942G>T	c.(1942-1944)Ggg>Tgg	p.G648W	THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	648					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						TCCTTGGGCCCCTCCACACTG	0.587																																						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.(1942-1944)Ggg>Tgg		THO complex 5							112	103	106					22																	29907141		2203	4300	6503	SO:0001583	missense	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.chr22:29907141C>A	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.1942G>T	22.37:g.29907141C>A	ENSP00000420306:p.Gly648Trp		Somatic				THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W	p.G648W	NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			19	2064	-			648					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1942G>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148862	0.94645	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48422	-0.9037	10	0.87932	D	0	-32.6814	20.4549	0.99139	0.0:1.0:0.0:0.0	.	648	Q13769	THOC5_HUMAN	W	648	ENSP00000420306:G648W;ENSP00000380970:G648W;ENSP00000380969:G648W;ENSP00000380971:G648W	ENSP00000380969:G648W	G	-	1	0	THOC5	28237141	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.598000	0.82745	2.937000	0.99478	0.650000	0.86243	GGG		0.587	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		5	175	5	175	---	---	---	---	A	29907141	C	A	29907141	3	1	9	1	0	0	0	0	1	0	0	0	15865	623	22	1	117	1	THOC5	22	29907141	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2885595	29907141	21397425	894	1133										
NF2	4771	broad.mit.edu	37	chr22	30057273	30057273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctgagaacagactgacccCcaagatctccttcccgtgga	8	16	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.chr22:30057273C>A	ENST00000338641.4	+	8	1196	c.755C>A	c.(754-756)cCc>cAc	p.P252H	NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000413209.2_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	252	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.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(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						AGACTGACCCCCAAGATCTCC	0.498			"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 "		7	Unknown(3)|Deletion - In frame(2)|Complex - frameshift(1)|Deletion - Frameshift(1)	p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)	soft_tissue(3)|meninges(1)|large_intestine(1)|stomach(1)|central_nervous_system(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.(754-756)cCc>cAc		neurofibromin 2 (merlin)							126	118	120					22																	30057273		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.chr22:30057273C>A	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.755C>A	22.37:g.30057273C>A	ENSP00000344666:p.Pro252His		Somatic				NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H	p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	WXS	Illumina GAIIx	Phase_I	P35240	MERL_HUMAN			8	1196	+			252			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.755C>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311100	0.95629	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.81	5.81	0.92471	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.049797	0.85682	D	0.000000	D	0.93239	0.7846	M	0.82716	2.605	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;0.999;0.994;0.998;0.997	D	0.92671	0.6150	9	.	.	.	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	211;252;252;210;169;252	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	H	93;252;252;211;252;252;169;169;252;210;252	ENSP00000335160:P93H;ENSP00000344666:P252H;ENSP00000384029:P252H;ENSP00000354897:P211H;ENSP00000384797:P252H;ENSP00000335652:P169H;ENSP00000340626:P169H;ENSP00000380891:P252H;ENSP00000355183:P210H;ENSP00000354529:P252H	.	P	+	2	0	NF2	28387273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.814000	0.86154	2.747000	0.94245	0.650000	0.86243	CCC		0.498	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		5	182	5	182	---	---	---	---	A	30057273	C	A	30057273	3	1	9	1	0	0	0	0	1	0	0	0	10357	623	22	1	785	1	NF2	22	30057273	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	150132	30057273	21247293	895	1134										
MTMR3	8897	broad.mit.edu	37	chr22	30412587	30412587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacaacgccaaggagagagGggaaaagcatactcaggaac	12	9	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.chr22:30412587G>T	ENST00000401950.2	+	15	1916	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.G525V	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	525	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)			AAGGAGAGAGGGGAAAAGCAT	0.478																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1573-1575)gGg>gTg		myotubularin related protein 3							262	218	233					22																	30412587		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.chr22:30412587G>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.1574G>T	22.37:g.30412587G>T	ENSP00000384651:p.Gly525Val		Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000401950.2_Missense_Mutation_p.G525V|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V	p.G525V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		15	1902	+			525			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1574G>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266416	0.40095	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.166180	0.53938	D	0.000049	T	0.68943	0.3056	N	0.00298	-1.69	0.80722	D	1	B;B;B	0.31790	0.34;0.016;0.34	B;B;B	0.33799	0.17;0.014;0.17	T	0.73714	-0.3896	10	0.13470	T	0.59	.	19.2777	0.94039	0.0:0.0:1.0:0.0	.	525;525;525	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	V	525;525;389;525;525	ENSP00000384651:G525V;ENSP00000331649:G525V;ENSP00000318070:G389V;ENSP00000307271:G525V;ENSP00000384077:G525V	ENSP00000318070:G389V	G	+	2	0	MTMR3	28742587	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.302000	0.51849	2.794000	0.96219	0.655000	0.94253	GGG		0.478	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		7	315	7	315	---	---	---	---	T	30412587	G	T	30412587	3	4	9	1	0	0	0	0	1	0	0	0	9945	1232	43	1	1624	1	MTMR3	22	30412587	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	355314	30412587	20891979	896	1135										
RBM9	23543	broad.mit.edu	37	chr22	36177715	36177715	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagacatgcagccgtttcgGggtagatttactctctgaat	11	8	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.chr22:36177715G>T	ENST00000438146.2	-	4	540	c.541C>A	c.(541-543)Ccg>Acg	p.P181T	RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000405409.2_Missense_Mutation_p.P111T|RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	120	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						AGCCGTTTCGGGGTAGATTTA	0.458																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(331-333)Ccg>Acg		RNA binding protein, fox-1 homolog (C. elegans) 2							162	168	166					22																	36177715		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177715G>T	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.541C>A	22.37:g.36177715G>T	ENSP00000413035:p.Pro181Thr		Somatic				RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P181T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T	p.P111T	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	WXS	Illumina GAIIx	Phase_I	O43251	RFOX2_HUMAN			3	699	-			120					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.331C>A	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063484	0.93898	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T;T;T	0.73789	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;-0.78;1.01	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);	0.051584	0.85682	D	0.000000	D	0.86008	0.5830	M	0.65975	2.015	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	0.997;0.999;0.999;0.999;0.998;0.998;0.999;1.0;0.999;0.998	D	0.86710	0.1935	10	0.87932	D	0	.	19.6891	0.95991	0.0:0.0:1.0:0.0	.	90;120;180;181;110;110;111;110;110;91	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	T	111;120;110;110;110;91;90;110;181;133;90	ENSP00000384944:P111T;ENSP00000407855:P110T;ENSP00000391670:P110T;ENSP00000262829:P110T;ENSP00000380470:P91T;ENSP00000352328:P90T;ENSP00000405651:P110T;ENSP00000413035:P181T;ENSP00000386177:P133T;ENSP00000380472:P90T	ENSP00000262829:P110T	P	-	1	0	RBFOX2	34507661	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.224000	0.95209	2.641000	0.89580	0.650000	0.86243	CCG		0.458	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			6	344	6	344	---	---	---	---	T	36177715	G	T	36177715	3	4	9	1	0	0	0	0	1	0	0	0	13147	1232	43	1	868	1	RBM9	22	36177715	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5765128	36177715	15126851	897	1136										
GGA1	26088	broad.mit.edu	37	chr22	38010280	38010280	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctcaacgaggactttgagGggtaggtggccgtccccact	14	11	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.chr22:38010280G>T	ENST00000343632.4	+	2	513	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W|GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W	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	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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)		p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592																																						ENST00000343632.4																			1	Substitution - Missense(1)	p.G43R(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(127-129)Ggg>Tgg		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							79	67	71					22																	38010280		2203	4300	6503	SO:0001630	splice_region_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38010280G>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.128+1G>T	22.37:g.38010280G>T			Somatic				GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W	p.G43W	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	WXS	Illumina GAIIx	Phase_I	Q9UJY5	GGA1_HUMAN			2	513	+	Melanoma(58;0.0574)		43			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Splice_Site	SNP	ENST00000343632.4	37	c.127G>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467719	0.84533	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	4.41	4.41	0.53225	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.89478	3.035	0.80722	D	1	D;D;D;P	0.69078	0.986;0.997;0.991;0.473	D;D;D;B	0.69479	0.928;0.952;0.964;0.263	T	0.68526	-0.5385	10	0.87932	D	0	-33.5231	17.1826	0.86858	0.0:0.0:1.0:0.0	.	43;43;43;43	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	W	43;43;43;43;43;43;35	ENSP00000414387:G43W;ENSP00000341344:G43W;ENSP00000371175:G43W;ENSP00000384030:G43W;ENSP00000321288:G43W;ENSP00000338647:G43W;ENSP00000390416:G35W	ENSP00000321288:G43W	G	+	1	0	GGA1	36340226	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.399000	0.97285	2.287000	0.76781	0.462000	0.41574	GGG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	Missense_Mutation	4	56	4	56	---	---	---	---	T	38010280	G	T	38010280	5	4	9	1	0	0	0	0	0	0	1	0	6352	1246	43	1	133	1	GGA1	22	38010280	Splice_Site	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1832565	38010280	13294286	898	1137										
EIF3L	51386	broad.mit.edu	37	chr22	38258978	38258978	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttgttttctttacagggGggaccttccttggagcagag	12	9	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.chr22:38258978G>T	ENST00000412331.2	+	6	1020	c.438G>T	c.(436-438)ggG>ggT	p.G146G	EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	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						CTTTACAGGGGGGACCTTCCT	0.378																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(436-438)ggG>ggT		eukaryotic translation initiation factor 3, subunit L							89	89	89					22																	38258978		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258978G>T	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.438G>T	22.37:g.38258978G>T			Somatic				EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	p.G146G	NM_016091.3	NP_057175.1	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			6	1020	+			146						Silent	SNP	ENST00000412331.2	37	c.438G>T	CCDS13960.1																																																																																				0.378	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		6	218	6	218	---	---	---	---	T	38258978	G	T	38258978	2	4	9	1	0	0	0	0	0	0	0	1	5022	1219	43	1		1	EIF3L	22	38258978	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	248698	38258978	13045588	899	1138										
EP300	2033	broad.mit.edu	37	chr22	41527561	41527561	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcagatgccgacacaaccCcaggtgcaagcaaagaacca	8	13	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.chr22:41527561C>A	ENST00000263253.7	+	6	2671	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	484					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						CGACACAACCCCAGGTGCAAG	0.498			"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.(1450-1452)ccC>ccA		E1A binding protein p300							85	83	83					22																	41527561		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:41527561C>A	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.1452C>A	22.37:g.41527561C>A			Somatic					p.P484P	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			6	2671	+			484					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.1452C>A	CCDS14010.1																																																																																				0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		5	138	5	138	---	---	---	---	A	41527561	C	A	41527561	2	1	9	1	0	0	0	0	0	0	0	1	5148	610	22	1		1	EP300	22	41527561	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	3268583	41527561	9777005	900	1139										
EP300	2033	broad.mit.edu	37	chr22	41551078	41551078	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggatccagaatcccttccCtttcgtcaacctgtggaccc	7	16	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.chr22:41551078C>A	ENST00000263253.7	+	17	4441	c.3222C>A	c.(3220-3222)ccC>ccA	p.P1074P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1074	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						AATCCCTTCCCTTTCGTCAAC	0.383			"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.(3220-3222)ccC>ccA		E1A binding protein p300							246	236	240					22																	41551078		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:41551078C>A	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.3222C>A	22.37:g.41551078C>A			Somatic					p.P1074P	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			17	4441	+			1074			Bromo.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.3222C>A	CCDS14010.1																																																																																				0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		8	566	8	566	---	---	---	---	A	41551078	C	A	41551078	2	1	9	1	0	0	0	0	0	0	0	1	5148	668	24	1		1	EP300	22	41551078	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	23517	41551078	9753488	901	1140										
L3MBTL2	83746	broad.mit.edu	37	chr22	41605896	41605896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgctgcatttgctcagccCtgggactcctcgctccttgg	10	17	1	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.chr22:41605896C>A	ENST00000216237.5	+	2	379	c.221C>A	c.(220-222)cCt>cAt	p.P74H	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	74					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						TTGCTCAGCCCTGGGACTCCT	0.567																																						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.(220-222)cCt>cAt		l(3)mbt-like 2 (Drosophila)							113	111	112					22																	41605896		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.chr22:41605896C>A	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.221C>A	22.37:g.41605896C>A	ENSP00000216237:p.Pro74His		Somatic				RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	p.P74H	NM_031488.4	NP_113676.2	WXS	Illumina GAIIx	Phase_I	Q969R5	LMBL2_HUMAN			2	379	+			74					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.221C>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106137	0.56291	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.18810	2.19	5.08	5.08	0.68730	.	0.633204	0.16102	N	0.229505	T	0.16938	0.0407	N	0.24115	0.695	0.22511	N	0.999035	B	0.09022	0.002	B	0.04013	0.001	T	0.11397	-1.0589	10	0.22109	T	0.4	.	18.0691	0.89400	0.0:1.0:0.0:0.0	.	74	Q969R5	LMBL2_HUMAN	H	74;66	ENSP00000216237:P74H	ENSP00000216237:P74H	P	+	2	0	L3MBTL2	39935842	0.664000	0.27457	1.000000	0.80357	0.957000	0.61999	3.840000	0.55843	2.364000	0.80123	0.637000	0.83480	CCT		0.567	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		5	180	5	180	---	---	---	---	A	41605896	C	A	41605896	3	1	9	1	0	0	0	0	1	0	0	0	8592	681	24	1	227	1	L3MBTL2	22	41605896	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	54818	41605896	9698670	902	1141										
POLDIP3	84271	broad.mit.edu	37	chr22	42998805	42998805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttggtgagcttcagagcagGggtcactgtcccaatgggtg	15	8	2	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.chr22:42998805G>T	ENST00000252115.5	-	2	525	c.421C>A	c.(421-423)Cct>Act	p.P141T	POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	141					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						TTCAGAGCAGGGGTCACTGTC	0.532																																					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.(421-423)Cct>Act		polymerase (DNA-directed), delta interacting protein 3							84	92	89					22																	42998805		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998805G>T		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.421C>A	22.37:g.42998805G>T	ENSP00000252115:p.Pro141Thr		Somatic				POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T	p.P141T	NM_032311.3	NP_115687.2	WXS	Illumina GAIIx	Phase_I	Q9BY77	PDIP3_HUMAN			2	525	-			141					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.421C>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911002	0.72983	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	6.08	0.98989	.	0.110978	0.64402	D	0.000006	T	0.66877	0.2834	L	0.47716	1.5	0.80722	D	1	P;P;D;D;P	0.69078	0.941;0.941;0.997;0.98;0.941	B;B;P;P;B	0.61132	0.421;0.421;0.884;0.713;0.421	T	0.67692	-0.5605	9	0.72032	D	0.01	-2.928	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	141;137;141;141;141	B4E0L0;Q96DI9;Q6R954;Q9BY77-2;Q9BY77	.;.;.;.;PDIP3_HUMAN	T	141	.	ENSP00000252115:P141T	P	-	1	0	POLDIP3	41328749	1.000000	0.71417	0.864000	0.33941	0.801000	0.45260	6.144000	0.71762	2.894000	0.99253	0.591000	0.81541	CCT		0.532	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		6	186	6	186	---	---	---	---	T	42998805	G	T	42998805	3	4	9	1	0	0	0	0	1	0	0	0	12195	1232	43	1	876	1	POLDIP3	22	42998805	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1392909	42998805	8305761	903	1142										
EFCAB6	64800	broad.mit.edu	37	chr22	44178084	44178084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagatctgaacttatttgGggaaccattccttgaatata	8	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.chr22:44178084G>T	ENST00000262726.7	-	3	368	c.115C>A	c.(115-117)Cca>Aca	p.P39T	EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000356087.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	39					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)				AACTTATTTGGGGAACCATTC	0.358																																						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.(115-117)Cca>Aca		EF-hand calcium binding domain 6							192	180	184					22																	44178084		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44178084G>T	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.115C>A	22.37:g.44178084G>T	ENSP00000262726:p.Pro39Thr		Somatic				EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P	p.P39T	NM_022785.3	NP_073622.2	WXS	Illumina GAIIx	Phase_I	Q5THR3	EFCB6_HUMAN			3	368	-		Ovarian(80;0.0247)|all_neural(38;0.025)	39					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.115C>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121023	0.20877	.	.	ENSG00000186976	ENST00000262726	T	0.13089	2.62	4.47	3.44	0.39384	.	0.372175	0.19816	N	0.105430	T	0.06462	0.0166	N	0.08118	0	0.20403	N	0.999909	B;B	0.32160	0.358;0.244	B;B	0.29716	0.106;0.049	T	0.37244	-0.9714	10	0.20046	T	0.44	-4.8168	10.615	0.45445	0.0:0.1946:0.8054:0.0	.	39;39	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	T	39	ENSP00000262726:P39T	ENSP00000262726:P39T	P	-	1	0	EFCAB6	42509417	0.637000	0.27216	0.005000	0.12908	0.121000	0.20230	2.132000	0.42083	1.217000	0.43442	0.655000	0.94253	CCA		0.358	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		8	267	8	267	---	---	---	---	T	44178084	G	T	44178084	3	4	9	1	0	0	0	0	1	0	0	0	4939	1232	43	1	4510	1	EFCAB6	22	44178084	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1179279	44178084	7126482	904	1143										
TRMU	55687	broad.mit.edu	37	chr22	46733731	46733731	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactcactggatgaacatggGgtctgtactgccgacaaaga	12	9	2	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.chr22:46733731G>T	ENST00000290846.4	+	2	478	c.138G>T	c.(136-138)ggG>ggT	p.G46G	TRMU_ENST00000381019.3_Silent_p.G46G|TRMU_ENST00000424260.2_Silent_p.G11G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	46					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		ATGAACATGGGGTCTGTACTG	0.453																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(136-138)ggG>ggT		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							157	129	139					22																	46733731		2203	4300	6503	SO:0001819	synonymous_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46733731G>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.138G>T	22.37:g.46733731G>T			Somatic				TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G	p.G46G	NM_018006.4	NP_060476.2	WXS	Illumina GAIIx	Phase_I	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	2	478	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	46					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	c.138G>T	CCDS14075.1																																																																																				0.453	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		5	170	5	170	---	---	---	---	T	46733731	G	T	46733731	2	4	9	1	0	0	0	0	0	0	0	1	16568	1219	43	1		1	TRMU	22	46733731	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	2555647	46733731	4570835	905	1144										
KLHDC7B	113730	broad.mit.edu	37	chr22	50987604	50987604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacctggcggcccctgaccCaggtgcccgaggaggccccg	14	18	0	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.chr22:50987604C>A	ENST00000395676.2	+	1	1143	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	337										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)		GCCCCTGACCCAGGTGCCCGA	0.697																																						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.(1009-1011)Cag>Aag		kelch domain containing 7B							42	53	49					22																	50987604		2053	4104	6157	SO:0001583	missense	113730							g.chr22:50987604C>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.1009C>A	22.37:g.50987604C>A	ENSP00000379034:p.Gln337Lys		Somatic					p.Q337K	NM_138433.3	NP_612442.2	WXS	Illumina GAIIx	Phase_I	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	1143	+		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)	337						Missense_Mutation	SNP	ENST00000395676.2	37	c.1009C>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250595	0.10130	.	.	ENSG00000130487	ENST00000395676	T	0.65916	-0.18	5.03	-0.0988	0.13627	Kelch-type beta propeller (1);	1.051690	0.07633	U	0.929004	T	0.55273	0.1910	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44112	-0.9349	10	0.07990	T	0.79	.	12.998	0.58660	0.5455:0.4545:0.0:0.0	.	337	Q96G42	KLD7B_HUMAN	K	337	ENSP00000379034:Q337K	ENSP00000379034:Q337K	Q	+	1	0	KLHDC7B	49334470	0.000000	0.05858	0.024000	0.17045	0.877000	0.50540	0.035000	0.13797	0.128000	0.18479	0.313000	0.20887	CAG		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		5	187	5	187	---	---	---	---	A	50987604	C	A	50987604	3	1	9	1	0	0	0	0	1	0	0	0	8361	595	21	1	1011	1	KLHDC7B	22	50987604	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4253873	50987604	316962	906	1145										
PPP2R3B	28227	broad.mit.edu	37	chrX	307979	307979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctctcacctgcaagaagGggacaaagtcctcctgcacc	10	14	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.chrX:307979G>T	ENST00000390665.3	-	4	725	c.707C>A	c.(706-708)cCc>cAc	p.P236H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	236					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(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)				CTGCAAGAAGGGGACAAAGTC	0.617																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(706-708)cCc>cAc		protein phosphatase 2, regulatory subunit B'', beta							176	197	190					X																	307979		2091	4183	6274	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:307979G>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"Pseudoautosomal regions / PAR1", "Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	13417	protein-coding gene	gene with protein product		300339	"protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.707C>A	X.37:g.307979G>T	ENSP00000375080:p.Pro236His		Somatic					p.P236H	NM_013239.4	NP_037371.2	WXS	Illumina GAIIx	Phase_I	Q9Y5P8	P2R3B_HUMAN			4	725	-		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)	236					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.707C>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448880	0.26074	.	.	ENSG00000167393	ENST00000390665	T	0.28895	1.59	2.14	1.19	0.21007	.	0.000000	0.85682	U	0.000000	T	0.58652	0.2137	M	0.93638	3.44	0.22446	N	0.999098	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.94	T	0.50118	-0.8865	10	0.87932	D	0	.	7.9535	0.30029	0.1444:0.0:0.8555:0.0	.	75;236	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	H	236	ENSP00000375080:P236H	ENSP00000375080:P236H	P	-	2	0	PPP2R3B	227979	1.000000	0.71417	0.771000	0.31576	0.092000	0.18411	7.166000	0.77553	0.663000	0.31027	0.174000	0.16983	CCC		0.617	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		5	139	5	139	---	---	---	---	T	307979	G	T	307979	3	4	9	1	0	0	0	0	1	0	0	0	12389	1232	43	1	1060	1	PPP2R3B	23	307979	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		307979	154962581	907	1146										
BMX	660	broad.mit.edu	37	chrX	15534241	15534241	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctgctcctcagagataaGgggtaacccccacctgctgg	11	13	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.chrX:15534241G>T	ENST00000357607.2	+	5	520	c.332G>T	c.(331-333)aGg>aTg	p.R111M	BMX_ENST00000348343.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000342014.6_Missense_Mutation_p.R111M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCAGAGATAAGGGGTAACCCC	0.478																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(331-333)aGg>aTg		BMX non-receptor tyrosine kinase							140	127	132					X																	15534241		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:15534241G>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.332G>T	X.37:g.15534241G>T	ENSP00000350224:p.Arg111Met		Somatic				BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.R111M	p.R111M			WXS	Illumina GAIIx	Phase_I	P51813	BMX_HUMAN			5	520	+	Hepatocellular(33;0.183)		111			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.332G>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470736	0.63625	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.94000	-3.33;-3.33;-3.33	5.24	1.28	0.21552	Pleckstrin homology-type (1);Pleckstrin homology domain (2);Zinc finger, Btk motif (1);	0.296303	0.30428	N	0.009658	D	0.94175	0.8131	M	0.65975	2.015	0.33092	D	0.538014	D	0.61080	0.989	D	0.63113	0.911	D	0.93227	0.6614	10	0.87932	D	0	.	6.6608	0.23012	0.4433:0.0:0.5567:0.0	.	111	P51813	BMX_HUMAN	M	111	ENSP00000350224:R111M;ENSP00000308774:R111M;ENSP00000340082:R111M	ENSP00000340082:R111M	R	+	2	0	BMX	15444162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.541000	0.36126	0.375000	0.24679	0.600000	0.82982	AGG		0.478	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		5	159	5	159	---	---	---	---	T	15534241	G	T	15534241	3	4	9	1	0	0	0	0	1	0	0	0	1473	1000	35	1	346	1	BMX	23	15534241	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	15226262	15534241	139736319	908	1147										
GPR64	10149	broad.mit.edu	37	chrX	19031991	19031991	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctatgggagctgaaggctgGggtgaaaggggttgaatctc	18	5	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.chrX:19031991G>T	ENST00000379869.3	-	16	1075	c.912C>A	c.(910-912)ccC>ccA	p.P304P	GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000357991.3_Silent_p.P301P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000354791.3_Silent_p.P288P|GPR64_ENST00000379876.1_Silent_p.P280P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	304					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)					CTGAAGGCTGGGGTGAAAGGG	0.557																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(862-864)ccC>ccA		G protein-coupled receptor 64							122	116	118					X																	19031991		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19031991G>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.912C>A	X.37:g.19031991G>T			Somatic				GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379869.3_Silent_p.P304P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P	p.P288P			WXS	Illumina GAIIx	Phase_I	Q8IZP9	GPR64_HUMAN			15	1105	-	Hepatocellular(33;0.183)		304					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.864C>A	CCDS43923.1																																																																																				0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			4	84	4	84	---	---	---	---	T	19031991	G	T	19031991	2	4	9	1	0	0	0	0	0	0	0	1	6705	1219	43	1		1	GPR64	23	19031991	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	3497750	19031991	136238569	909	1148										
RPS6KA3	6197	broad.mit.edu	37	chrX	20185708	20185708	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtggtaaaaagacttaccCcttgtgcgtgaagatattca	10	7	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.chrX:20185708C>A	ENST00000379565.3	-	17	1808	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V|RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	534	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)	AAGACTTACCCCTTGTGCGTG	0.343																																						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.(1600-1602)gGg>gTg		ribosomal protein S6 kinase, 90kDa, polypeptide 3							163	162	162					X																	20185708		2203	4300	6503	SO:0001630	splice_region_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:20185708C>A	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.1602+1G>T	X.37:g.20185708C>A			Somatic				RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V	p.G534V	NM_004586.2	NP_004577.1	WXS	Illumina GAIIx	Phase_I	P51812	KS6A3_HUMAN			17	1808	-			534			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Splice_Site	SNP	ENST00000379565.3	37	c.1601G>T	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744015	0.89663	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054454	0.64402	D	0.000001	T	0.80166	0.4573	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.87578	0.992;0.995;0.998;0.997	D	0.86538	0.1826	10	0.87932	D	0	.	18.9908	0.92791	0.0:1.0:0.0:0.0	.	505;504;506;534	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	V	534;506;504;505	ENSP00000368884:G534V;ENSP00000440220:G506V;ENSP00000368865:G504V;ENSP00000444837:G505V	ENSP00000368865:G504V	G	-	2	0	RPS6KA3	20095629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GGG		0.343	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	Missense_Mutation	6	239	6	239	---	---	---	---	A	20185708	C	A	20185708	5	1	9	1	0	0	0	0	0	0	1	0	13652	637	22	1	645	1	RPS6KA3	23	20185708	Splice_Site	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1153717	20185708	135084852	910	1149										
PHEX	5251	broad.mit.edu	37	chrX	22132642	22132642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaactttattgaaagtgccCtcccttatgttgttggaaag	8	7	0	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.chrX:22132642C>A	ENST00000379374.4	+	11	1805	c.1240C>A	c.(1240-1242)Ctc>Atc	p.L414I	PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	414					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGTGCCCTCCCTTATGT	0.403																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1240-1242)Ctc>Atc		phosphate regulating endopeptidase homolog, X-linked							169	143	152					X																	22132642		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22132642C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1240C>A	X.37:g.22132642C>A	ENSP00000368682:p.Leu414Ile		Somatic				PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I	p.L414I	NM_000444.4	NP_000435.3	WXS	Illumina GAIIx	Phase_I	P78562	PHEX_HUMAN			11	1805	+			414					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1240C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746234	0.69418	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.44	5.44	0.79542	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061033	0.64402	D	0.000003	D	0.82440	0.5037	L	0.48642	1.525	0.53688	D	0.999977	B;B	0.33940	0.379;0.433	B;B	0.29524	0.063;0.103	T	0.83035	-0.0160	10	0.59425	D	0.04	.	13.3424	0.60553	0.1576:0.8424:0.0:0.0	.	414;414	F5GXU4;P78562	.;PHEX_HUMAN	I	414;414;317;117	ENSP00000368682:L414I;ENSP00000440362:L414I;ENSP00000439418:L317I;ENSP00000443531:L117I	ENSP00000368682:L414I	L	+	1	0	PHEX	22042563	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	3.813000	0.55636	2.275000	0.75901	0.513000	0.50165	CTC		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		5	122	5	122	---	---	---	---	A	22132642	C	A	22132642	3	1	9	1	0	0	0	0	1	0	0	0	11819	681	24	1	1282	1	PHEX	23	22132642	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1946934	22132642	133137918	911	1150										
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972728	29972728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaagaagaacgttttgccCttgaaatcctacctgatatg	10	8	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.chrX:29972728C>A	ENST00000378993.1	+	10	1964	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	431	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)	p.L431I(4)		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						ACGTTTTGCCCTTGAAATCCT	0.348																																						ENST00000378993.1																			4	Substitution - Missense(4)	p.L431I(4)	lung(4)	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.(1291-1293)Ctt>Att		interleukin 1 receptor accessory protein-like 1							105	90	95					X																	29972728		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:29972728C>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.1291C>A	X.37:g.29972728C>A	ENSP00000368278:p.Leu431Ile		Somatic				IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	p.L431I	NM_014271.3	NP_055086.1	WXS	Illumina GAIIx	Phase_I	Q9NZN1	IRPL1_HUMAN			10	1964	+			431			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1291C>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080424	0.94050	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08720	3.06;3.06	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058607	0.64402	D	0.000001	T	0.30665	0.0772	M	0.72576	2.205	0.58432	D	0.999998	D	0.63880	0.993	D	0.85130	0.997	T	0.00473	-1.1718	9	.	.	.	.	19.0725	0.93145	0.0:1.0:0.0:0.0	.	431	Q9NZN1	IRPL1_HUMAN	I	431	ENSP00000368278:L431I;ENSP00000305200:L431I	.	L	+	1	0	IL1RAPL1	29882649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	2.453000	0.82957	0.594000	0.82650	CTT		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		5	115	5	115	---	---	---	---	A	29972728	C	A	29972728	3	1	9	1	0	0	0	0	1	0	0	0	7661	681	24	1	1325	1	IL1RAPL1	23	29972728	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7840086	29972728	125297832	912	1151										
BTK	695	broad.mit.edu	37	chrX	100613415	100613415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacataatgacgtatcacccCttgagggtccctgaagaagt	9	10	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.chrX:100613415C>A	ENST00000308731.7	-	12	1148	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	BTK_ENST00000372880.1_Missense_Mutation_p.G329W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)			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						CGTATCACCCCTTGAGGGTCC	0.473									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				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.(985-987)Ggg>Tgg		Bruton agammaglobulinemia tyrosine kinase							139	120	126					X																	100613415		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:100613415C>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.985G>T	X.37:g.100613415C>A	ENSP00000308176:p.Gly329Trp		Somatic				BTK_ENST00000372880.1_Missense_Mutation_p.G329W	p.G329W	NM_000061.2	NP_000052.1	WXS	Illumina GAIIx	Phase_I	Q06187	BTK_HUMAN			12	1148	-			329			SH2.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.985G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682155	0.68042	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.94184	-3.37;-3.37	6.06	6.06	0.98353	SH2 motif (4);	0.048987	0.85682	D	0.000000	D	0.97845	0.9292	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.989;0.986;0.999	D	0.98479	1.0604	10	0.72032	D	0.01	.	19.1109	0.93315	0.0:1.0:0.0:0.0	.	329;329;329	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	W	329	ENSP00000361971:G329W;ENSP00000308176:G329W	ENSP00000308176:G329W	G	-	1	0	BTK	100500071	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.583000	0.74053	2.562000	0.86427	0.600000	0.82982	GGG		0.473	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		4	111	4	111	---	---	---	---	A	100613415	C	A	100613415	3	1	9	1	0	0	0	0	1	0	0	0	1557	681	24	1	1026	1	BTK	23	100613415	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	70640687	100613415	54657145	913	1152										
ARMCX2	9823	broad.mit.edu	37	chrX	100911778	100911778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtggctttcggtatagccCcagtgtgagccccaggggtt	14	10	0	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.chrX:100911778C>A	ENST00000328766.5	-	5	1250	c.797G>T	c.(796-798)gGg>gTg	p.G266V	ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	266	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGGTATAGCCCCAGTGTGAGC	0.587																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(796-798)gGg>gTg		armadillo repeat containing, X-linked 2							99	97	98					X																	100911778		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911778C>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.797G>T	X.37:g.100911778C>A	ENSP00000331662:p.Gly266Val		Somatic				ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V	p.G266V	NM_014782.5	NP_055597.1	WXS	Illumina GAIIx	Phase_I	Q7L311	ARMX2_HUMAN			5	1250	-			266			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.797G>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699649	0.30142	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.55234	0.53;0.53;0.53	4.47	3.51	0.40186	.	0.000000	0.40554	N	0.001078	T	0.53045	0.1772	N	0.19112	0.55	0.58432	D	0.999996	D	0.76494	0.999	D	0.71184	0.972	T	0.50742	-0.8792	10	0.36615	T	0.2	-9.527	10.8814	0.46939	0.0:0.8109:0.1891:0.0	.	266	Q7L311	ARMX2_HUMAN	V	266	ENSP00000331662:G266V;ENSP00000328631:G266V;ENSP00000349281:G266V	ENSP00000331662:G266V	G	-	2	0	ARMCX2	100798434	0.975000	0.34042	1.000000	0.80357	0.258000	0.26162	2.903000	0.48711	2.155000	0.67459	0.422000	0.28245	GGG		0.587	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		5	144	5	144	---	---	---	---	A	100911778	C	A	100911778	3	1	9	1	0	0	0	0	1	0	0	0	960	623	22	1	1105	1	ARMCX2	23	100911778	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	298363	100911778	54358782	914	1153										
CAPN6	827	broad.mit.edu	37	chrX	110494932	110494932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatggcccttcagcagaccCcaatcagtttcaacttcttg	7	13	4	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.chrX:110494932C>A	ENST00000324068.1	-	6	905	c.738G>T	c.(736-738)tgG>tgT	p.W246C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	246	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						TCAGCAGACCCCAATCAGTTT	0.453																																						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.(736-738)tgG>tgT		calpain 6							262	253	256					X																	110494932		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:110494932C>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.738G>T	X.37:g.110494932C>A	ENSP00000317214:p.Trp246Cys		Somatic				CAPN6_ENST00000541758.1_5'UTR	p.W246C	NM_014289.3	NP_055104.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Q1	CAN6_HUMAN			6	905	-			246			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.738G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	0.331	-0.956215	0.02267	.	.	ENSG00000077274	ENST00000324068	D	0.86865	-2.18	6.17	6.17	0.99709	Peptidase C2, calpain, catalytic domain (3);	0.216317	0.50627	D	0.000103	T	0.64929	0.2643	N	0.00450	-1.49	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.65421	-0.6172	10	0.26408	T	0.33	.	14.5573	0.68109	0.1459:0.8541:0.0:0.0	.	246	Q9Y6Q1	CAN6_HUMAN	C	246	ENSP00000317214:W246C	ENSP00000317214:W246C	W	-	3	0	CAPN6	110381588	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.194000	0.42668	2.618000	0.88619	0.600000	0.82982	TGG		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	426	7	426	---	---	---	---	A	110494932	C	A	110494932	3	1	9	1	0	0	0	0	1	0	0	0	2630	624	22	1	1219	1	CAPN6	23	110494932	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	9583154	110494932	44775628	915	1154										
TRPC5	7224	broad.mit.edu	37	chrX	111025269	111025269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atagaaatgacttggggctgGggatgatgttgaaaggaggt	17	2	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.chrX:111025269G>T	ENST00000262839.2	-	8	2912	c.1994C>A	c.(1993-1995)cCc>cAc	p.P665H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	665					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						CTTGGGGCTGGGGATGATGTT	0.488																																						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.(1993-1995)cCc>cAc		transient receptor potential cation channel, subfamily C, member 5							141	132	135					X																	111025269		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025269G>T	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.1994C>A	X.37:g.111025269G>T	ENSP00000262839:p.Pro665His		Somatic					p.P665H	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			8	2912	-			665					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1994C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726357	0.89298	.	.	ENSG00000072315	ENST00000262839	D	0.83075	-1.68	5.92	5.92	0.95590	.	0.054689	0.85682	D	0.000000	D	0.92808	0.7713	M	0.89904	3.07	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.67231	0.945;0.95	D	0.93803	0.7103	10	0.87932	D	0	-13.4842	19.2591	0.93961	0.0:0.0:1.0:0.0	.	666;665	Q59G51;Q9UL62	.;TRPC5_HUMAN	H	665	ENSP00000262839:P665H	ENSP00000262839:P665H	P	-	2	0	TRPC5	110911925	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.814000	0.99346	2.501000	0.84356	0.594000	0.82650	CCC		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		5	148	5	148	---	---	---	---	T	111025269	G	T	111025269	3	4	9	1	0	0	0	0	1	0	0	0	16579	1232	43	1	943	1	TRPC5	23	111025269	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	530337	111025269	44245291	916	1155										
ACTRT1	139741	broad.mit.edu	37	chrX	127185484	127185484	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgctcccaggacctctccCcggctcttgcgtagctcttt	8	16	3	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.chrX:127185484C>A	ENST00000371124.3	-	1	898	c.702G>T	c.(700-702)cgG>cgT	p.R234R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						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						GGACCTCTCCCCGGCTCTTGC	0.512																																						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.(700-702)cgG>cgT		actin-related protein T1							129	120	123					X																	127185484		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185484C>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.702G>T	X.37:g.127185484C>A			Somatic					p.R234R	NM_138289.3	NP_612146.1	WXS	Illumina GAIIx	Phase_I	Q8TDG2	ACTT1_HUMAN			1	898	-			234					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.702G>T	CCDS14611.1																																																																																				0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	166	5	166	---	---	---	---	A	127185484	C	A	127185484	2	1	9	1	0	0	0	0	0	0	0	1	218	610	22	1		1	ACTRT1	23	127185484	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	16160215	127185484	28085076	917	1156										
BCORL1	63035	broad.mit.edu	37	chrX	129159054	129159054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaagaagaggaggtaaccCccaccccagctaagcgtcga	11	12	0	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:129159054C>A	ENST00000218147.7	+	7	3975	c.3778C>A	c.(3778-3780)Ccc>Acc	p.P1260T	BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1260T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1260					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						GGAGGTAACCCCCACCCCAGC	0.577																																						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.(3778-3780)Ccc>Acc		BCL6 corepressor-like 1							117	111	113					X																	129159054		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159054C>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.3778C>A	X.37:g.129159054C>A	ENSP00000218147:p.Pro1260Thr		Somatic				BCORL1_ENST00000218147.7_Missense_Mutation_p.P1260T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron	p.P1260T	NM_021946.4	NP_068765	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			6	3822	+			1260					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3778C>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728742	0.15507	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.40756	1.02;1.39;1.02;1.46	5.84	4.02	0.46733	.	0.225617	0.22886	N	0.054449	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	P;P	0.52842	0.744;0.956	B;B	0.44224	0.359;0.444	T	0.03608	-1.1020	10	0.34782	T	0.22	-11.238	5.1308	0.14909	0.0:0.4897:0.3425:0.1678	.	1260;1260	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	T	1260;1260;1260;860	ENSP00000218147:P1260T;ENSP00000307541:P1260T;ENSP00000437775:P1260T;ENSP00000399483:P860T	ENSP00000218147:P1260T	P	+	1	0	BCORL1	128986735	0.008000	0.16893	0.028000	0.17463	0.210000	0.24377	1.563000	0.36364	1.167000	0.42706	0.600000	0.82982	CCC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		5	120	5	120	---	---	---	---	A	129159054	C	A	129159054	3	1	9	1	0	0	0	0	1	0	0	0	1387	623	22	1	3800	1	BCORL1	23	129159054	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1973570	129159054	26111506	918	1157										
OR13H1	347468	broad.mit.edu	37	chrX	130678846	130678846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaactcagtccaagtcctacCctgaccaggacaagtttatc	6	13	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.chrX:130678846C>A	ENST00000338616.3	+	1	897	c.799C>A	c.(799-801)Cct>Act	p.P267T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	267						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)					CAAGTCCTACCCTGACCAGGA	0.453																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(799-801)Cct>Act		olfactory receptor, family 13, subfamily H, member 1							119	110	113					X																	130678846		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678846C>A		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.799C>A	X.37:g.130678846C>A	ENSP00000340748:p.Pro267Thr		Somatic					p.P267T	NM_001004486.1	NP_001004486.1	WXS	Illumina GAIIx	Phase_I	Q8NG92	O13H1_HUMAN			1	897	+	Acute lymphoblastic leukemia(192;0.000636)		267					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.799C>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481521	0.01027	.	.	ENSG00000171054	ENST00000338616	T	0.00207	8.55	4.87	-4.52	0.03472	GPCR, rhodopsin-like superfamily (1);	0.731381	0.11337	U	0.574489	T	0.00073	0.0002	N	0.17631	0.505	0.09310	N	1	B	0.29212	0.237	B	0.31101	0.124	T	0.10730	-1.0617	10	0.21540	T	0.41	.	1.248	0.01976	0.333:0.1402:0.1086:0.4182	.	267	Q8NG92	O13H1_HUMAN	T	267	ENSP00000340748:P267T	ENSP00000340748:P267T	P	+	1	0	OR13H1	130506527	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-3.185000	0.00567	-1.156000	0.02818	-0.232000	0.12228	CCT		0.453	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			5	186	5	186	---	---	---	---	A	130678846	C	A	130678846	3	1	9	1	0	0	0	0	1	0	0	0	10943	623	22	1	801	1	OR13H1	23	130678846	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	1519792	130678846	24591714	919	1158										
ZIC3	7547	broad.mit.edu	37	chrX	136652080	136652080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaagggtcagattcctccCctgctgccagttcaggctat	9	14	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.chrX:136652080C>A	ENST00000287538.5	+	3	1805	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	419					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)					AGATTCCTCCCCTGCTGCCAG	0.403																																						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.(1255-1257)Cct>Act		Zic family member 3							89	87	88					X																	136652080		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:136652080C>A	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.1255C>A	X.37:g.136652080C>A	ENSP00000287538:p.Pro419Thr		Somatic				ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	p.P419T	NM_003413.3	NP_003404.1	WXS	Illumina GAIIx	Phase_I	O60481	ZIC3_HUMAN			3	1805	+	Acute lymphoblastic leukemia(192;0.000127)		419					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1255C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410573	0.42715	.	.	ENSG00000156925	ENST00000287538	T	0.15256	2.44	5.97	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.39809	0.689	B	0.36378	0.223	T	0.01734	-1.1285	10	0.59425	D	0.04	.	13.3782	0.60752	0.0:0.9232:0.0:0.0768	.	419	O60481	ZIC3_HUMAN	T	419	ENSP00000287538:P419T	ENSP00000287538:P419T	P	+	1	0	ZIC3	136479746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	1.270000	0.44297	0.600000	0.82982	CCT		0.403	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			5	156	5	156	---	---	---	---	A	136652080	C	A	136652080	3	1	9	1	0	0	0	0	1	0	0	0	17677	623	22	1	1265	1	ZIC3	23	136652080	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	5973234	136652080	18618480	920	1159										
MAGEC3	139081	broad.mit.edu	37	chrX	140985097	140985097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccctgactgatatggaccCcgacaaccactcctatttct	6	15	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.chrX:140985097C>A	ENST00000298296.1	+	7	1553	c.1553C>A	c.(1552-1554)cCc>cAc	p.P518H	MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2. {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)					GATATGGACCCCGACAACCAC	0.448																																						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.(1552-1554)cCc>cAc		melanoma antigen family C, 3							157	152	154					X																	140985097		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985097C>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.1553C>A	X.37:g.140985097C>A	ENSP00000298296:p.Pro518His		Somatic				MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H	p.P518H	NM_138702.1	NP_619647.1	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			7	1553	+	Acute lymphoblastic leukemia(192;6.56e-05)		518			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1553C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	10.26	1.302008	0.23736	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	1.25	0.313	0.15842	.	.	.	.	.	T	0.22859	0.0552	M	0.88775	2.98	0.09310	N	1	P;D	0.76494	0.941;0.999	P;D	0.81914	0.8;0.995	T	0.08310	-1.0728	9	0.87932	D	0	.	3.2219	0.06719	0.0:0.683:0.0:0.317	.	518;220	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	H	518;220;140;220;220	ENSP00000298296:P518H;ENSP00000441107:P220H;ENSP00000438254:P140H;ENSP00000440444:P220H;ENSP00000386566:P220H	ENSP00000298296:P518H	P	+	2	0	MAGEC3	140812763	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.434000	0.06939	0.029000	0.15352	0.284000	0.19432	CCC		0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	188	5	188	---	---	---	---	A	140985097	C	A	140985097	3	1	9	1	0	0	0	0	1	0	0	0	9182	623	22	1	1808	1	MAGEC3	23	140985097	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	4333017	140985097	14285463	921	1160										
AFF2	2334	broad.mit.edu	37	chrX	147733627	147733627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaggctttgatctttttgGggagccatacaaggtagctg	12	7	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.chrX:147733627G>T	ENST00000370460.2	+	2	634	c.155G>T	c.(154-156)gGg>gTg	p.G52V	AFF2_ENST00000342251.3_Missense_Mutation_p.G52V|AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	52					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)					GATCTTTTTGGGGAGCCATAC	0.368																																						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.(154-156)gGg>gTg		AF4/FMR2 family, member 2							171	161	164					X																	147733627		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:147733627G>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.155G>T	X.37:g.147733627G>T	ENSP00000359489:p.Gly52Val		Somatic				AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V	p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			2	634	+	Acute lymphoblastic leukemia(192;6.56e-05)		52					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.155G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188873	0.78789	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.62	5.62	0.85841	.	0.137318	0.46145	D	0.000307	T	0.74527	0.3728	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.77557	0.976;0.976;0.976;0.982;0.99;0.98	T	0.76567	-0.2912	10	0.72032	D	0.01	.	18.6599	0.91469	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	V	52	ENSP00000359489:G52V;ENSP00000359486:G52V;ENSP00000345459:G52V;ENSP00000359487:G52V	ENSP00000345459:G52V	G	+	2	0	AFF2	147541319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.350000	0.79820	0.594000	0.82650	GGG		0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		5	182	5	182	---	---	---	---	T	147733627	G	T	147733627	3	4	9	1	0	0	0	0	1	0	0	0	357	1232	43	1	161	1	AFF2	23	147733627	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	6748530	147733627	7536933	922	1161										
MAGEA11	4110	broad.mit.edu	37	chrX	148798186	148798186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgggggtgtatgctggaaGggagcacttcctctttgggg	17	6	1	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.chrX:148798186G>T	ENST00000355220.5	+	5	1142	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	347	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)					TATGCTGGAAGGGAGCACTTC	0.537																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1039-1041)aGg>aTg		melanoma antigen family A, 11							152	152	152					X																	148798186		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798186G>T		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.1040G>T	X.37:g.148798186G>T	ENSP00000347358:p.Arg347Met		Somatic				MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	p.R347M	NM_005366.4	NP_005357.2	WXS	Illumina GAIIx	Phase_I	P43364	MAGAB_HUMAN			5	1142	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		347			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1040G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.289	0.052750	0.08291	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05258	3.47;3.47	0.909	-0.0176	0.13967	.	.	.	.	.	T	0.08447	0.0210	M	0.73372	2.23	0.09310	N	1	B;B	0.29188	0.198;0.236	B;B	0.34590	0.117;0.186	T	0.36016	-0.9765	8	.	.	.	.	3.0751	0.06243	0.3494:0.0:0.6506:0.0	.	318;347	G5E962;P43364	.;MAGAB_HUMAN	M	318;347	ENSP00000328177:R318M;ENSP00000347358:R347M	.	R	+	2	0	MAGEA11	148576219	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.236000	0.02925	-0.082000	0.12640	0.377000	0.23210	AGG		0.537	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		7	251	7	251	---	---	---	---	T	148798186	G	T	148798186	3	4	9	1	0	0	0	0	1	0	0	0	9165	1000	35	1	1067	1	MAGEA11	23	148798186	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1064559	148798186	6472374	923	1162										
CNGA2	1260	broad.mit.edu	37	chrX	150909341	150909341	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatttgtcattgccatgccCgtcctttacaactggtgcct	7	13	1	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.chrX:150909341C>A	ENST00000329903.4	+	4	483	c.450C>A	c.(448-450)ccC>ccA	p.P150P		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	150					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)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATGCCCGTCCTTTACA	0.557																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(448-450)ccC>ccA		cyclic nucleotide gated channel alpha 2							178	153	161					X																	150909341		2203	4300	6503	SO:0001819	synonymous_variant	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:150909341C>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.450C>A	X.37:g.150909341C>A			Somatic					p.P150P	NM_005140.1	NP_005131.1	WXS	Illumina GAIIx	Phase_I	Q16280	CNGA2_HUMAN			4	483	+	Acute lymphoblastic leukemia(192;6.56e-05)		150					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.450C>A	CCDS14701.1																																																																																				0.557	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	168	4	168	---	---	---	---	A	150909341	C	A	150909341	2	1	9	1	0	0	0	0	0	0	0	1	3597	639	23	1		1	CNGA2	23	150909341	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08	2111155	150909341	4361219	924	1163										
C1orf173	127254	broad.mit.edu	37	chr1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ctgctgctccctctgcccccCtttctatgcctggagggatc	9	17	2	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.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		Somatic				C1orf173_ENST00000433746.2_5'UTR	p.R837M	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	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	21	227	---	---	---	---	A	75038884	C	A	75038884	3	1	10	1	0	0	0	0	1	0	0	0	2014	681	24	1	2086	1	C1orf173	1	75038884	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		75038884	174211737	1	1164										
NTNG1	22854	broad.mit.edu	37	chr1	107961230	107961230	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	aagtttaataggatatggccGaatatttcttcccttgaggt	9	6	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.chr1:107961230G>A	ENST00000370068.1	+	5	1933				NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370066.1_Silent_p.P372P|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370067.1_Silent_p.P372P			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			Somatic				NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P	p.P372P			WXS	Illumina GAIIx	Phase_I	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	16	26	---	---	---	---	A	107961230	G	A	107961230	1	1	10	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	1165										
OVGP1	5016	broad.mit.edu	37	chr1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ctgggtagagaattttctcaTcctggagatccttagcaaca	9	9	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.chr1:111969101T>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		Somatic				OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	p.D73G	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	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	11	201	---	---	---	---	C	111969101	T	C	111969101	3	2	10	1	0	0	0	0	1	0	0	0	11325	1435	50	2	1854	2	OVGP1	1	111969101	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	4007871	111969101	137281520	3	1166										
LCE2D	353141	broad.mit.edu	37	chr1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ctcttcctgctgtggtcccaGctctgggagctgctgtggtc	13	13	2	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.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		Somatic					p.S51I	NM_178430.2	NP_848517.1	WXS	Illumina GAIIx	Phase_I	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	109	191	---	---	---	---	T	152636733	G	T	152636733	3	4	10	1	0	0	0	0	1	0	0	0	8668	971	34	3	154	3	LCE2D	1	152636733	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	40667632	152636733	96613888	4	1167										
AIM2	9447	broad.mit.edu	37	chr1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tggtgctatgaactccagatGtcagctgtagtttttctcca	9	9	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.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		Somatic					p.T327I	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	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	91	348	---	---	---	---	A	159033301	G	A	159033301	3	1	10	1	0	0	0	0	1	0	0	0	432	1377	48	2	59	2	AIM2	1	159033301	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	6396568	159033301	90217320	5	1168										
CR1L	1379	broad.mit.edu	37	chr1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ccccagtatgtcagccacctCcagatgtcctgcatgctgag	9	15	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.chr1:207870862C>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		Somatic				CR1L_ENST00000530905.1_Intron	p.P293T	NM_175710.1	NP_783641.1	WXS	Illumina GAIIx	Phase_I	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	110	249	---	---	---	---	A	207870862	C	A	207870862	3	1	10	1	0	0	0	0	1	0	0	0	3841	855	30	3	899	3	CR1L	1	207870862	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	48837561	207870862	41379759	6	1169										
CD46	4179	broad.mit.edu	37	chr1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ttttctcatttagttattacTtaattggtgaagaaattcta	5	4	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.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000367047.1_Missense_Mutation_p.L70V	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		Somatic				CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V	p.L133V	NM_002389.4	NP_002380.3	WXS	Illumina GAIIx	Phase_I	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	23	45	---	---	---	---	G	207932991	T	G	207932991	3	3	10	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	7	1170										
HEATR1	55127	broad.mit.edu	37	chr1	236760202	236760202	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tcctctgcagctaccagcgcCgacactatggtagaagcata	9	13	1	1	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_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S	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			Somatic				HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S	p.S226S	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	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	3	116	---	---	---	---	G	236760202	C	G	236760202	2	3	10	1	0	0	0	0	0	0	0	1	7027	639	23	4		4	HEATR1	1	236760202	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28827211	236760202	12490419	8	1171										
TFB2M	64216	broad.mit.edu	37	chr1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	taggtgtggaggtctacttgGttttcccaaatagatttgcg	12	6	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.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	CNST_ENST00000366512.3_5'Flank|TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A|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		Somatic				TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	p.P92A	NM_022366.2	NP_071761.1	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	C	246729167	G	C	246729167	3	2	10	1	0	0	0	0	1	0	0	0	15791	1261	44	4	948	4	TFB2M	1	246729167	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	9968965	246729167	2521454	9	1172										
OR11L1	391189	broad.mit.edu	37	chr1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ccacatttccttctcatgacCtttctaacagcttctttgaa	3	13	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.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		Somatic					p.K303N	NM_001001959.1	NP_001001959.1	WXS	Illumina GAIIx	Phase_I	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	49	57	---	---	---	---	A	248004290	C	A	248004290	3	1	10	1	0	0	0	0	1	0	0	0	10930	680	24	1	63	1	OR11L1	1	248004290	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	1275123	248004290	1246331	10	1173										
CNTNAP5	129684	broad.mit.edu	37	chr2	125367413	125367413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	cctgcgaggtgtacaggcacCaggggaatacagccggcttc	14	12	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.chr2:125367413C>A	ENST00000431078.1	+	12	2153	c.1789C>A	c.(1789-1791)Cag>Aag	p.Q597K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q597K(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)		GTACAGGCACCAGGGGAATAC	0.527																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.Q597K(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.(1789-1791)Cag>Aag		contactin associated protein-like 5							70	69	69					2																	125367413		1867	4104	5971	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367413C>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.1789C>A	2.37:g.125367413C>A	ENSP00000399013:p.Gln597Lys		Somatic					p.Q597K	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2153	+			597			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1789C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191262	0.09547	.	.	ENSG00000155052	ENST00000431078	T	0.08807	3.05	5.55	3.41	0.39046	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.315505	0.22742	N	0.056199	T	0.04048	0.0113	N	0.05351	-0.065	0.23298	N	0.997958	B	0.02656	0.0	B	0.01281	0.0	T	0.38067	-0.9678	10	0.05959	T	0.93	.	13.8682	0.63600	0.3348:0.6651:0.0:0.0	.	597	Q8WYK1	CNTP5_HUMAN	K	597	ENSP00000399013:Q597K	ENSP00000399013:Q597K	Q	+	1	0	CNTNAP5	125083883	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	0.205000	0.17356	1.415000	0.47037	0.655000	0.94253	CAG		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	162	4	162	---	---	---	---	A	125367413	C	A	125367413	3	1	10	1	0	0	0	0	1	0	0	0	3650	595	21	1	1835	1	CNTNAP5	2	125367413	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		125367413	117831960	11	1174										
MECOM	2122	broad.mit.edu	37	chr3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-													0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	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_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs	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)aagfs		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		Somatic				MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|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_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs	p.K868fs	NM_001164000.1	NP_001157472.1	WXS	Illumina GAIIx	Phase_I	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	10	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	1175										
ADAMTS3	9508	broad.mit.edu	37	chr4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	cagagtggttgagatcagatCtttgctgttgggacgcccag	14	8	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.chr4:73186511C>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		Somatic					p.R341T	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	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	10	227	---	---	---	---	G	73186511	C	G	73186511	3	3	10	1	0	0	0	0	1	0	0	0	267	913	32	4	2659	4	ADAMTS3	4	73186511	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		73186511	117967765	13	1176										
EFHC1	114327	broad.mit.edu	37	chr6	52285247	52285247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	catggcttgccctttcttccGggcacgtcctttaaggactc	9	14	1	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.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'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			Somatic				EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	p.P13P	NM_018100.3	NP_060570.2	WXS	Illumina GAIIx	Phase_I	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	3	72	---	---	---	---	A	52285247	G	A	52285247	2	1	10	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	14	1177										
C6orf182	285753	broad.mit.edu	37	chr6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	AAGG	-													0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	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_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000521277.1_Frame_Shift_Del_p.KE188fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_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)aaggaafs		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		Somatic				CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs	p.KE188fs			WXS	Illumina GAIIx	Phase_I	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	10	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	57191216	109476463	61638604	15	1178										
SMPDL3A	10924	broad.mit.edu	37	chr6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tgctgttacaccagtgaagaGtgttttagaaaaacagacca	9	7	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.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		Somatic				SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	p.S324N	NM_006714.3	NP_006705.1	WXS	Illumina GAIIx	Phase_I	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	14	124	---	---	---	---	A	123127429	G	A	123127429	3	1	10	1	0	0	0	0	1	0	0	0	14808	1029	36	2	997	2	SMPDL3A	6	123127429	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	13650966	123127429	47987638	16	1179										
MEPCE	56257	broad.mit.edu	37	chr7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tacttgcactgatgagggccAtgtagttcttgcttcgccac	10	11	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.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	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	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		Somatic				MEPCE_ENST00000414441.1_5'UTR	p.H249P	NM_019606.5	NP_062552.2	WXS	Illumina GAIIx	Phase_I	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	18	291	---	---	---	---	C	100028387	A	C	100028387	3	2	10	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		100028387	59110276	17	1180										
VGF	7425	broad.mit.edu	37	chr7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	cgtctctgctgccgccgtctCctgctggcgcttggcgctac	12	17	2	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.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		Somatic				VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	p.E179Q	NM_003378.3	NP_003369.2	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	G	100807590	C	G	100807590	3	3	10	1	0	0	0	0	1	0	0	0	17154	864	30	4	1316	4	VGF	7	100807590	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	779203	100807590	58331073	18	1181										
KLF10	7071	broad.mit.edu	37	chr8	103664291	103664291	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tgtaaggtggagtcaaacacTaaagaaaagggaaatacata	10	4	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	A	103664291	T	A	103664291	5	1	10	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	19	1182										
ZHX1	11244	broad.mit.edu	37	chr8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	acttgtgcttcaggtaataaTccttaagtattgcagttcca	7	8	1	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.chr8:124265827T>C	ENST00000522655.1	-	3	2900	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1_ENST00000395571.3_Missense_Mutation_p.D787G|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1-C8ORF76_ENST00000357082.4_Intron			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		Somatic				ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G	p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	WXS	Illumina GAIIx	Phase_I	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	6	565	---	---	---	---	C	124265827	T	C	124265827	3	2	10	1	0	0	0	0	1	0	0	0	17672	1435	50	2	265	2	ZHX1	8	124265827	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	20601536	124265827	22098195	20	1183										
VPS13A	23230	broad.mit.edu	37	chr9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	atctctttatctttttagttAcatttaagtgtttcactgag	5	6	3	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.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|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		Somatic				VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F	p.L2776F	NM_033305.2	NP_150648.2	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	T	79981645	A	T	79981645	3	4	10	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	21	1184										
SH2D3C	10044	broad.mit.edu	37	chr9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	cagtacctgggccatgtccaGggcacccatgaccgccgcga	12	16	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.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V	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		Somatic				SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V	p.L692V	NM_170600.2	NP_733745.1	WXS	Illumina GAIIx	Phase_I	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	15	32	---	---	---	---	C	130504081	G	C	130504081	3	2	10	1	0	0	0	0	1	0	0	0	14234	991	35	4	524	4	SH2D3C	9	130504081	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	50522436	130504081	10709350	22	1185										
PTEN	5728	broad.mit.edu	37	chr10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tttaacaaaaaatgatcttgAcaaagcaaataaagacaaag	5	5	1	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.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)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.D326G	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	7	161	---	---	---	---	G	89720826	A	G	89720826	3	3	10	1	0	0	0	0	1	0	0	0	12738	275	10	2	1007	2	PTEN	10	89720826	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		89720826	45813921	23	1186										
SLC5A12	159963	broad.mit.edu	37	chr11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ggtttgttgaatcgtagttgTaagtactaaaggaaacagaa	11	3	0	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.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		Somatic				SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	p.L115F	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	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	8	453	---	---	---	---	A	26734248	T	A	26734248	3	1	10	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	24	1187										
OR5L2	26338	broad.mit.edu	37	chr11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tctccacctgtgcctcccacCtcacagccatcactgtctcc	4	21	4	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)	Somatic					p.L245I	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	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	5	179	---	---	---	---	A	55595427	C	A	55595427	3	1	10	1	0	0	0	0	1	0	0	0	11171	681	24	1	735	1	OR5L2	11	55595427	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28861179	55595427	79411089	25	1188										
UBC	7316	broad.mit.edu	37	chr12	125398090	125398090	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	gtcttcacgaagatttgcatCccacctctgagacggagcac	9	13	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.chr12:125398090C>T	ENST00000538617.1	-	3	544	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000339647.5_Silent_p.G76G|UBC_ENST00000536769.1_Silent_p.G76G|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_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			Somatic				UBC_ENST00000538617.1_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G	p.G76G			WXS	Illumina GAIIx	Phase_I	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	8	346	---	---	---	---	T	125398090	C	T	125398090	2	4	10	1	0	0	0	0	0	0	0	1	16839	842	30	2		2	UBC	12	125398090	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08		125398090	8453805	26	1189										
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tttttatggaactagcaaagTaagtaacttattaaaactta	5	4	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.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.6_Splice_Site|RNF17_ENST00000381921.1_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			Somatic				RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	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	5	183	---	---	---	---	A	25376711	T	A	25376711	5	1	10	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	27	1190										
PCSK6	5046	broad.mit.edu	37	chr15	101938639	101938639	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ccatactcgaaagcctgcttAgccagtcggccgggcccgtc	11	16	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.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_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			Somatic				PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A	p.A321A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	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	7	171	---	---	---	---	C	101938639	A	C	101938639	2	2	10	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	28	1191										
CDH8	1006	broad.mit.edu	37	chr16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	gcatacatacccaaaatggaCatttctggcacagtagcatg	8	10	1	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.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I|CDH8_ENST00000584337.1_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		Somatic				CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	p.M179I	NM_001796.4	NP_001787.2	WXS	Illumina GAIIx	Phase_I	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	5	193	---	---	---	---	A	61935093	C	A	61935093	3	1	10	1	0	0	0	0	1	0	0	0	3116	478	17	3	1902	3	CDH8	16	61935093	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		61935093	28419660	29	1192										
POLDIP2	26073	broad.mit.edu	37	chr17	26680002	26680002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	tggatgggaacctgatcagtGgaggtgtaggggaggatgtc	19	4	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.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			Somatic				POLDIP2_ENST00000003607.4_5'UTR	p.S185S	NM_015584.3	NP_056399.1	WXS	Illumina GAIIx	Phase_I	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	17	41	---	---	---	---	A	26680002	G	A	26680002	2	1	10	1	0	0	0	0	0	0	0	1	12194	1335	47	2		2	POLDIP2	17	26680002	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		26680002	54515208	30	1193										
INSR	3643	broad.mit.edu	37	chr19	7174736	7174736	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	ggacccaggcatggggtgcaCagcaagctaaggacggagca	16	10	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.chr19:7174736C>A	ENST00000302850.5	-	4	1123	c.981G>T	c.(979-981)ctG>ctT	p.L327L	INSR_ENST00000341500.5_Silent_p.L327L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	327	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.L327L(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ATGGGGTGCACAGCAAGCTAA	0.587																																						ENST00000341500.5																			3	Substitution - coding silent(3)	p.L327L(3)	prostate(3)	breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(979-981)ctG>ctT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						45	37	40					19																	7174736		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7174736C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.981G>T	19.37:g.7174736C>A			Somatic				INSR_ENST00000302850.5_Silent_p.L327L	p.L327L	NM_001079817.1	NP_001073285.1	WXS	Illumina GAIIx	Phase_I	P06213	INSR_HUMAN			4	1020	-			327			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.981G>T	CCDS12176.1																																																																																				0.587	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			3	37	3	37	---	---	---	---	A	7174736	C	A	7174736	2	1	10	1	0	0	0	0	0	0	0	1	7773	465	17	3		3	INSR	19	7174736	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08		7174736	51954247	31	1194										
SPC24	147841	broad.mit.edu	37	chr19	11258496	11258496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	gctccccaaaaaggatactgCctttgaccatccctggctca	7	15	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.chr19:11258496C>A	ENST00000592540.1	-	4	516	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	162	Interaction with the C-terminus of SPBC25.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G162V(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AAGGATACTGCCTTTGACCAT	0.438																																						ENST00000592540.1																			1	Substitution - Missense(1)	p.G162V(1)	prostate(1)	autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(484-486)gGc>gTc		SPC24, NDC80 kinetochore complex component							59	60	60					19																	11258496		1905	4118	6023	SO:0001583	missense	147841				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr19:11258496C>A	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"spindle pole body component 24 homolog (S. cerevisiae)", "SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.485G>T	19.37:g.11258496C>A	ENSP00000465075:p.Gly162Val		Somatic					p.G162V	NM_182513.2	NP_872319.1	WXS	Illumina GAIIx	Phase_I	Q8NBT2	SPC24_HUMAN			4	516	-			162			Interaction with the C-terminus of SPBC25.		B4DZZ7|C9JGC4	Missense_Mutation	SNP	ENST00000592540.1	37	c.485G>T	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127248	0.56721	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81780	-0.0776	9	0.87932	D	0	-14.7369	15.9929	0.80220	0.0:1.0:0.0:0.0	.	162	Q8NBT2	SPC24_HUMAN	V	116;162	.	ENSP00000397131:G162V	G	-	2	0	SPC24	11119496	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	4.402000	0.59722	2.357000	0.79964	0.655000	0.94253	GGC		0.438	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1	NM_182513		3	37	3	37	---	---	---	---	A	11258496	C	A	11258496	3	1	10	1	0	0	0	0	1	0	0	0	15020	739	26	3	116	3	SPC24	19	11258496	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	4083760	11258496	47870487	32	1195										
GLTSCR1	29998	broad.mit.edu	37	chr19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	atgtctaccagggcgccctcCcctcccccagtgactaccac	7	20	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	9	---	---	---	---	T	48202015	C	T	48202015	3	4	10	1	0	0	0	0	1	0	0	0	6474	623	22	2	3411	2	GLTSCR1	19	48202015	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	36943519	48202015	10926968	33	1196										
VRK3	51231	broad.mit.edu	37	chr19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G													0.0294117647058824	1	1	0.698198198198198	1.67567567567568	0	1	1	0	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_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_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)cccaaafs		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		Somatic				VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR	p.K106fs			WXS	Illumina GAIIx	Phase_I	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)	106					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	10	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	34	1197										
GRHL3	57822	broad.mit.edu	37	chr1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gagaacatttacaaagtctaCaagaaatgcaagcgagggtg	11	6	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.chr1:24676595C>G	ENST00000350501.5	+	15	1804	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000361548.4_Nonsense_Mutation_p.Y559*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*	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*		Somatic				GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*	p.Y559*	NM_198173.2	NP_937816.1	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	G	24676595	C	G	24676595	4	3	11	1	0	0	0	0	0	1	0	0	6765	489	17	4	1771	4	GRHL3	1	24676595	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		24676595	224574026	1	1198										
RUNX3	864	broad.mit.edu	37	chr1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tggcagcgtggggaaggagcGgtcaaactggcgggggtcgg	22	7	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.chr1:25229113G>A	ENST00000308873.6	-	5	756	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	RUNX3_ENST00000399916.1_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C	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		Somatic				RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C	p.R264C	NM_001031680.2	NP_001026850.1	WXS	Illumina GAIIx	Phase_I	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	5	202	---	---	---	---	A	25229113	G	A	25229113	3	1	11	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	1199										
MACF1	23499	broad.mit.edu	37	chr1	39798824	39798824	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tatattcatgatgaaactggAggatctcacataaaacccca	6	9	2	2	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_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000564288.1_Silent_p.G2188G			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			Somatic				MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	p.G2188G			WXS	Illumina GAIIx	Phase_I	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	3	154	---	---	---	---	G	39798824	A	G	39798824	2	3	11	1	0	0	0	0	0	0	0	1	9144	291	11	2		2	MACF1	1	39798824	Silent	SNP	A	TCGA-CH-5741-01A-11D-1576-08	14569711	39798824	209451797	3	1200										
CACNA1S	779	broad.mit.edu	37	chr1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	actgccacccactaggcaccCccgacaccagccggaggggt	11	18	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.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		Somatic				CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	p.G178V	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	A	201061108	C	A	201061108	3	1	11	1	0	0	0	0	1	0	0	0	2547	623	22	1	5252	1	CACNA1S	1	201061108	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	161262284	201061108	48189513	4	1201										
ATP2B4	493	broad.mit.edu	37	chr1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tggggatgacttcctgtgctTagaaggcaaagaattcaacc	11	8	1	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_ENST00000391954.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_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		Somatic				ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S	p.L722S	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	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	3	168	---	---	---	---	C	203681221	T	C	203681221	3	2	11	1	0	0	0	0	1	0	0	0	1142	1764	61	2	2211	2	ATP2B4	1	203681221	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	2620113	203681221	45569400	5	1202										
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	12	7	2	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		Somatic					p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	WXS	Illumina GAIIx	Phase_I	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	4	76	---	---	---	---	A	96260870	G	A	96260870	3	1	11	1	0	0	0	0	1	0	0	0	16515	1233	43	2	490	2	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08		96260870	146938503	6	1203										
LASS6	253782	broad.mit.edu	37	chr2	169417720	169417720	+	Frame_Shift_Del	DEL	T	T	-													0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	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)ttgfs		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		Somatic				CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	p.L99fs	NM_203463.2	NP_982288.1	WXS	Illumina GAIIx	Phase_I	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	11	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	73156850	169417720	73781653	7	1204										
TTN	7273	broad.mit.edu	37	chr2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tggccatatcaacggcagcaAcaacagtcgcaacagctgca	9	13	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.chr2:179659235A>T	ENST00000591111.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000589042.1_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_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		Somatic				TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D	p.V430D	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	9	151	---	---	---	---	T	179659235	A	T	179659235	3	4	11	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	8	1205										
PPARG	5468	broad.mit.edu	37	chr3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ccaagctgctccagaaaatgAcagacctcagacagattgtc	8	12	1	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.chr3:12475528A>G	ENST00000287820.6	+	7	1523	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A|PPARG_ENST00000397026.2_Missense_Mutation_p.T446A|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T440A	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		Somatic				PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A	p.T446A			WXS	Illumina GAIIx	Phase_I	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	3	101	---	---	---	---	G	12475528	A	G	12475528	3	3	11	1	0	0	0	0	1	0	0	0	12299	275	10	2	1428	2	PPARG	3	12475528	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		12475528	185546902	9	1206										
ATG12	9140	broad.mit.edu	37	chr5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gaagctgcaacacagactgcGgctcctccgccatcttgctt	9	15	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.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L			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		Somatic				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L	p.P5L			WXS	Illumina GAIIx	Phase_I	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	81	92	---	---	---	---	A	115177236	G	A	115177236	3	1	11	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	10	1207										
DLX5	1749	broad.mit.edu	37	chr7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	agctcccggcggagccgttcAcgccgtgatactgatactgg	13	13	1	2	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_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	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		Somatic				DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	p.V80E	NM_005221.5	NP_005212.1	WXS	Illumina GAIIx	Phase_I	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	22	58	---	---	---	---	T	96653697	A	T	96653697	3	4	11	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	11	1208										
RGS20	8601	broad.mit.edu	37	chr8	54791832	54791832	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ccccagtccttcccgcctgcAcagctcccagactcgcccgc	7	23	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|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank|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			Somatic				RGS20_ENST00000344277.6_Intron	p.A60A	NM_170587.2	NP_733466.1	WXS	Illumina GAIIx	Phase_I	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	88	166	---	---	---	---	T	54791832	A	T	54791832	2	4	11	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	12	1209										
SULF1	23213	broad.mit.edu	37	chr8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	taattacactgtttgtcgcaAtggcatcaaagaaaagcatg	8	7	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.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000458141.2_Missense_Mutation_p.N176S|SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_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		Somatic				SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S	p.N176S	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	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	16	293	---	---	---	---	G	70498706	A	G	70498706	3	3	11	1	0	0	0	0	1	0	0	0	15369	101	4	2	537	2	SULF1	8	70498706	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	15706874	70498706	75865316	13	1210										
RBM12B	389677	broad.mit.edu	37	chr8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	cggaaatgctcctggggtgaCtgcctgaagtcctcctcagg	13	12	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.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	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		Somatic				RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	p.Q717H	NM_203390.2	NP_976324.2	WXS	Illumina GAIIx	Phase_I	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	145	235	---	---	---	---	G	94746488	C	G	94746488	3	3	11	1	0	0	0	0	1	0	0	0	13114	564	20	4	858	4	RBM12B	8	94746488	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	24247782	94746488	51617534	14	1211										
ANXA13	312	broad.mit.edu	37	chr8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ataggcttgaaaggtggctcGtaactgcttgtagctcctct	11	9	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.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*		Somatic				ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	p.R247*	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	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	9	404	---	---	---	---	A	124705463	G	A	124705463	4	1	11	1	0	0	0	0	0	1	0	0	717	1153	40	2	350	2	ANXA13	8	124705463	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	29958975	124705463	21658559	15	1212										
CYC1	1537	broad.mit.edu	37	chr8	145150822	145150822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	atgctggcggcagggggtgcGgggctggccatggctctgca	20	10	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	A	145150822	G	A	145150822	2	1	11	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	16	1213										
OR52E4	390081	broad.mit.edu	37	chr11	5905957	5905957	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	accaataaaaccatcagtatCctagcttctgtggttgttgg	8	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.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			Somatic					p.I145I	NM_001005165.1	NP_001005165.1	WXS	Illumina GAIIx	Phase_I	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	6	256	---	---	---	---	T	5905957	C	T	5905957	2	4	11	1	0	0	0	0	0	0	0	1	11116	845	30	2		2	OR52E4	11	5905957	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		5905957	129100559	17	1214										
CNTN5	53942	broad.mit.edu	37	chr11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ttccaaaaccagaccacgatAcagcagcccttcattaggaa	6	13	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.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000527185.1_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		Somatic				CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	p.Y54S	NM_014361.3	NP_055176.1	WXS	Illumina GAIIx	Phase_I	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	5	188	---	---	---	---	C	99690380	A	C	99690380	3	2	11	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	93784423	99690380	35316136	18	1215										
C11orf70	85016	broad.mit.edu	37	chr11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tggaagactcagaaaaatatGaaatattcagccaaccagat	7	7	2	4	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_ENST00000534360.1_Nonstop_Mutation_p.*100L|C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*	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*		Somatic				C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	p.E156*	NM_032930.2	NP_116319.2	WXS	Illumina GAIIx	Phase_I	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	17	191	---	---	---	---	T	101946634	G	T	101946634	4	4	11	1	0	0	0	0	0	1	0	0	1659	1291	45	3	366	3	C11orf70	11	101946634	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	2256254	101946634	33059882	19	1216										
HELB	92797	broad.mit.edu	37	chr12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ccaggggccgctgccgagtgTatgtgattgcagaggagtct	16	9	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		Somatic					p.Y924H	NM_033647.3	NP_387467.2	WXS	Illumina GAIIx	Phase_I	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	43	99	---	---	---	---	C	66725033	T	C	66725033	3	2	11	1	0	0	0	0	1	0	0	0	7045	1638	57	2	2816	2	HELB	12	66725033	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08		66725033	67126862	20	1217										
NAV3	89795	broad.mit.edu	37	chr12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tgctgcccaggcggctattcAgggagcactgaatggtccag	14	11	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.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R			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)	Somatic				NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R	p.Q1649R			WXS	Illumina GAIIx	Phase_I	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	3	226	---	---	---	---	G	78562611	A	G	78562611	3	3	11	1	0	0	0	0	1	0	0	0	10185	188	7	2	5040	2	NAV3	12	78562611	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	11837578	78562611	55289284	21	1218										
ACSS3	79611	broad.mit.edu	37	chr12	81647350	81647350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	aacattggccctgtggctgcTtttcgaaatgcagtgtttgt	11	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.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A			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			Somatic				ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A	p.A632A			WXS	Illumina GAIIx	Phase_I	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	6	207	---	---	---	---	C	81647350	T	C	81647350	2	2	11	1	0	0	0	0	0	0	0	1	190	1596	56	2		2	ACSS3	12	81647350	Silent	SNP	T	TCGA-CH-5741-01A-11D-1576-08	3084739	81647350	52204545	22	1219										
DYNC1H1	1778	broad.mit.edu	37	chr14	102474613	102474613	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	cggatgctctcggctgtgtcCcagcaggtgcagtgcataca	13	12	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.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			Somatic					p.S1972S	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	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	38	51	---	---	---	---	A	102474613	C	A	102474613	2	1	11	1	0	0	0	0	0	0	0	1	4841	610	22	1		1	DYNC1H1	14	102474613	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		102474613	4874927	23	1220										
TIMM22	29928	broad.mit.edu	37	chr17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gagaaggcgatggaaagctgCgctttcaaggctgcgctggc	16	9	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.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																																						ENST00000327158.4																			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*		Somatic					p.C69*	NM_013337.2	NP_037469.2	WXS	Illumina GAIIx	Phase_I	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	233	+								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	3	47	---	---	---	---	A	900589	C	A	900589	4	1	11	1	0	0	0	0	0	1	0	0	15907	776	27	3	209	3	TIMM22	17	900589	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		900589	80294621	24	1221										
NLRP1	22861	broad.mit.edu	37	chr17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ccaccgatgtcactcgggctAtcagctgctctcgatactgg	10	14	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.chr17:5418327A>G	ENST00000572272.1	-	17	4168	c.4169T>C	c.(4168-4170)aTa>aCa	p.I1390T	RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T|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		Somatic				NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T	p.I1346T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	WXS	Illumina GAIIx	Phase_I	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	3	93	---	---	---	---	G	5418327	A	G	5418327	3	3	11	1	0	0	0	0	1	0	0	0	10471	449	16	2	319	2	NLRP1	17	5418327	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	4517738	5418327	75776883	25	1222										
RAB34	83871	broad.mit.edu	37	chr17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gctgcaaactgaagggaatgCccagcacctcaaatcgttcc	9	13	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.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D	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		Somatic				RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D	p.G98D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	WXS	Illumina GAIIx	Phase_I	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	4	315	---	---	---	---	T	27042839	C	T	27042839	3	4	11	1	0	0	0	0	1	0	0	0	12924	739	26	2	578	2	RAB34	17	27042839	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	21624512	27042839	54152371	26	1223										
KRT25	147183	broad.mit.edu	37	chr17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	aggcactagagaagccacttCcaatccctgaaatgccacaa	7	13	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.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		Somatic					p.G42V	NM_181534.3	NP_853512.1	WXS	Illumina GAIIx	Phase_I	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	5	67	---	---	---	---	A	38911399	C	A	38911399	3	1	11	1	0	0	0	0	1	0	0	0	8462	855	30	3	1259	3	KRT25	17	38911399	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	11868560	38911399	42283811	27	1224										
C17orf28	283987	broad.mit.edu	37	chr17	72949181	72949181	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	cctccatgcctggctgggctCctggcccccagaaaggaaca	11	16	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.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.(1972-1974)Gag>Tag		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			Somatic					p.E658*	NM_030630.2	NP_085133.1	WXS	Illumina GAIIx	Phase_I					16	2049	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.1972G>T	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	3	13	---	---	---	---	A	72949181	C	A	72949181	5	1	11	1	0	0	0	0	0	0	1	0	1853	869	30	3	410	3	C17orf28	17	72949181	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08	34037782	72949181	8246029	28	1225										
ANKRD30B	374860	broad.mit.edu	37	chr18	14757889	14757889	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	cttcagcaaaatgttgacgtCtttgctgaagacatacatgg	9	8	2	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.chr18:14757889C>G	ENST00000358984.4	+	5	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron|RNU6-1210P_ENST00000363775.1_RNA	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			Somatic				ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron	p.V231V	NM_001145029.1	NP_001138501.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	G	14757889	C	G	14757889	2	3	11	1	0	0	0	0	0	0	0	1	659	900	32	4		4	ANKRD30B	18	14757889	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		14757889	63319359	29	1226										
TTC39C	125488	broad.mit.edu	37	chr18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tccaaattcttccctctttaTgtttttcaagggacggatac	6	10	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.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		Somatic				TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	p.M318T	NM_001135993.1	NP_001129465.1	WXS	Illumina GAIIx	Phase_I	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	71	47	---	---	---	---	C	21663014	T	C	21663014	3	2	11	1	0	0	0	0	1	0	0	0	16706	1464	51	2	975	2	TTC39C	18	21663014	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	6905125	21663014	56414234	30	1227										
LILRB5	10990	broad.mit.edu	37	chr19	54760066	54760066	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gggagcttctgtgagtacagGgtcctggggagcttctgttc	16	8	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.chr19:54760066G>T	ENST00000316219.5	-	4	602	c.495C>A	c.(493-495)acC>acA	p.T165T	LILRB5_ENST00000449561.2_Silent_p.T165T|LILRB5_ENST00000450632.1_Silent_p.T156T|LILRB5_ENST00000345866.6_Intron	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	10990				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			Somatic				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T	p.T156T			WXS	Illumina GAIIx	Phase_I	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	57	105	---	---	---	---	T	54760066	G	T	54760066	2	4	11	1	0	0	0	0	0	0	0	1	8794	1219	43	1		1	LILRB5	19	54760066	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08		54760066	4368917	31	1228										
MMP24	10893	broad.mit.edu	37	chr20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	ccctgactggacagaagtggAggcaaaaacacatcacctac	9	12	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.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_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		Somatic				MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron	p.R164G	NM_006690.3	NP_006681.1	WXS	Illumina GAIIx	Phase_I	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	4	121	---	---	---	---	G	33839802	A	G	33839802	3	3	11	1	0	0	0	0	1	0	0	0	9661	295	11	2	250	2	MMP24	20	33839802	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		33839802	29185718	32	1229										
SHROOM2	357	broad.mit.edu	37	chrX	9912815	9912815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	gtgaaaggcgtctgcaagccCagcgagtttgacaagttccg	13	10	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.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			Somatic				SHROOM2_ENST00000418909.2_Silent_p.P317P	p.P1482P	NM_001649.2	NP_001640.1	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	T	9912815	C	T	9912815	2	4	11	1	0	0	0	0	0	0	0	1	14294	581	21	2		2	SHROOM2	23	9912815	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		9912815	145357745	33	1230										
GPR64	10149	broad.mit.edu	37	chrX	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T													0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	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_ENST00000340581.3_Intron|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs	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																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1417-1419)attfs		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		Somatic				GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.I489fs|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_ENST00000340581.3_Intron	p.I473fs	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	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	11	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	34	1231										
ZMYM3	9203	broad.mit.edu	37	chrX	70471027	70471027	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	acttcctcaaatcctacttaCtgctctcagtggaatctaca	4	13	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.chrX:70471027C>A	ENST00000353904.2	-	4	966		c.e4+1		ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373998.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_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			Somatic				ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site		NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	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	65	15	---	---	---	---	A	70471027	C	A	70471027	5	1	11	1	0	0	0	0	0	0	1	0	17698	579	20	3	3439	3	ZMYM3	23	70471027	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08	51444829	70471027	84799533	35	1232										
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.779069767441861	2.85658914728682	0	1	1	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	11	6	2	0	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		Somatic				OGT_ENST00000373701.3_Missense_Mutation_p.N186K	p.N196K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina GAIIx	Phase_I	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	9	189	---	---	---	---	G	70767813	T	G	70767813	3	3	11	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	36	1233										
CRB1	23418	broad.mit.edu	37	chr1	197313415	197313415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgacttttttaaaaggtgtAaactgtgaattggaaattga	9	3	0	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.chr1:197313415A>G	ENST00000367400.3	+	3	792	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.V150V|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			Somatic				CRB1_ENST00000535699.1_Silent_p.V150V|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.V219V|CRB1_ENST00000543483.1_5'UTR	p.V219V	NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	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	6	397	---	---	---	---	G	197313415	A	G	197313415	2	3	12	1	0	0	0	0	0	0	0	1	3848	349	13	2		2	CRB1	1	197313415	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08		197313415	51937206	1	1234										
BCL11A	53335	broad.mit.edu	37	chr2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggggaaggtggcttatccaCagctttttctaagcagaggc	13	8	1	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.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_ENST00000358510.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000356842.4_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		Somatic				BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M|BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M	p.V81M	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	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	5	133	---	---	---	---	T	60773250	C	T	60773250	3	4	12	1	0	0	0	0	1	0	0	0	1363	478	17	2	2384	2	BCL11A	2	60773250	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		60773250	182426123	2	1235										
LRP1B	53353	broad.mit.edu	37	chr2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtcttgcaacttcaattaAgttgaaaccatgatctgtcc	7	9	3	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.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)	Somatic					p.L1976V	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	92	216	---	---	---	---	C	141473639	A	C	141473639	3	2	12	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	3	1236										
CUL3	8452	broad.mit.edu	37	chr2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taatcccaaattgtagacgtTctccacattattttgttgta	5	8	1	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.chr2:225379456T>C	ENST00000264414.4	-	4	750	c.412A>G	c.(412-414)Aac>Gac	p.N138D	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000409096.1_Missense_Mutation_p.N114D	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		Somatic				CUL3_ENST00000344951.4_Missense_Mutation_p.N72D|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D	p.N138D	NM_003590.4	NP_003581.1	WXS	Illumina GAIIx	Phase_I	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	27	79	---	---	---	---	C	225379456	T	C	225379456	3	2	12	1	0	0	0	0	1	0	0	0	4056	1783	62	2	1946	2	CUL3	2	225379456	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	83905817	225379456	17819917	4	1237										
DOCK3	1795	broad.mit.edu	37	chr3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A													0	0	1	0	0	0	1	1	0	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		Somatic					p.E141K	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	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	28	120	---	---	---	---	A	51101984	G	A	51101984	3	1	12	1	0	0	0	0	1	0	0	0	4688	1175	41	2	443	2	DOCK3	3	51101984	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		51101984	146920446	5	1238	2	2	1	1		3	2	30	N	G	2.810332e-05
DOCK3	1795	broad.mit.edu	37	chr3	51101986	51101986	+	Silent	SNP	G	G	A													0	0	1	0	0	0	1	1	0	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			Somatic					p.E141E	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	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	27	122	---	---	---	---	A	51101986	G	A	51101986	2	1	12	1	0	0	0	0	0	0	0	1	4688	991	35	2		2	DOCK3	3	51101986	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	2	51101986	146920444	6	1239	2	2	1	1		3	2	30	N	G	2.810332e-05
DOCK3	1795	broad.mit.edu	37	chr3	51102013	51102013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggcacatcaccgtgcgcctGgactggggtaatgagtaagt	14	10	1	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.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			Somatic					p.L150L	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	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	26	123	---	---	---	---	A	51102013	G	A	51102013	2	1	12	1	0	0	0	0	0	0	0	1	4688	1335	47	2		2	DOCK3	3	51102013	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	27	51102013	146920417	7	1240			1	1		3	2	30	N	G	2.810332e-05
RYBP	23429	broad.mit.edu	37	chr3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcttttcaactttctcctTcttctcctttttagggggtg	7	11	4	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.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																																						ENST00000477973.2																			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		Somatic					p.E169G	NM_012234.5	NP_036366.3	WXS	Illumina GAIIx	Phase_I	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)				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	65	193	---	---	---	---	C	72428496	T	C	72428496	3	2	12	1	0	0	0	0	1	0	0	0	13766	1792	62	2	457	2	RYBP	3	72428496	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	21326483	72428496	125593934	8	1241										
CDKL3	51265	broad.mit.edu	37	chr5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcaaattcttcccctcgCaatggccatctccaccctaa	3	17	4	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.chr5:133634385C>T	ENST00000265334.4	-	13	1854	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000435240.2_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		Somatic				CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR	p.C579Y	NM_001113575.1	NP_001107047.1	WXS	Illumina GAIIx	Phase_I	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	37	125	---	---	---	---	T	133634385	C	T	133634385	3	4	12	1	0	0	0	0	1	0	0	0	3155	710	25	2	46	2	CDKL3	5	133634385	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		133634385	47280875	9	1242										
PSD2	84249	broad.mit.edu	37	chr5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaggaggacaagctcttaTctgcagtgcctgaggaaggc	15	8	2	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		Somatic					p.S8P	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	C	139189047	T	C	139189047	3	2	12	1	0	0	0	0	1	0	0	0	12647	1435	50	2	24	2	PSD2	5	139189047	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	5554662	139189047	41726213	10	1243										
ATP10B	23120	broad.mit.edu	37	chr5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtcgagccacttcggggaCaggggcaggcctctgtctgc	16	12	2	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.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		Somatic					p.V1358L	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	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	58	234	---	---	---	---	G	159992774	C	G	159992774	3	3	12	1	0	0	0	0	1	0	0	0	1117	478	17	4	317	4	ATP10B	5	159992774	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	20803727	159992774	20922486	11	1244										
ZAN	7455	broad.mit.edu	37	chr7	100345786	100345786	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggtaggcgtttttggaaaGaccccagagccagctgtggc	15	9	0	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.chr7:100345786G>T	ENST00000348028.3	+	0	1215				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_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)		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			Somatic				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	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	12	59	---	---	---	---	T	100345786	G	T	100345786	1	4	12	0	1	0	0	0	0	0	0	0	17510	933	33	3		3	ZAN	7	100345786	RNA	SNP	G	TCGA-CH-5744-01A-11D-1576-08		100345786	58792877	12	1245										
KDM4C	23081	broad.mit.edu	37	chr9	7169914	7169914	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgctggcagatgccacttGgggacctgccaagtgaattc	13	10	0	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_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.L1006F	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			Somatic				KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron|KDM4C_ENST00000381309.3_Intron	p.L1006F	NM_001146694.1	NP_001140166.1	WXS	Illumina GAIIx	Phase_I	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	12	53	---	---	---	---	C	7169914	G	C	7169914	1	2	12	0	1	0	0	0	0	0	0	0	8130	1339	47	4		4	KDM4C	9	7169914	Intron	SNP	G	TCGA-CH-5744-01A-11D-1576-08		7169914	134043517	13	1246										
IKBKAP	8518	broad.mit.edu	37	chr9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagaacttccccatgggacaCatgattgctgctcaggccgg	11	13	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		Somatic				IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	p.V682M	NM_003640.3	NP_003631.2	WXS	Illumina GAIIx	Phase_I	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	22	108	---	---	---	---	T	111662626	C	T	111662626	3	4	12	1	0	0	0	0	1	0	0	0	7610	478	17	2	2030	2	IKBKAP	9	111662626	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	104492712	111662626	29550805	14	1247										
WDR38	401551	broad.mit.edu	37	chr9	127618187	127618187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttcagccctgactcgagaCagctggcatcaggtggctgg	14	12	2	2	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	4	139	---	---	---	---	A	127618187	C	A	127618187	3	1	12	1	0	0	0	0	1	0	0	0	17289	479	17	3	369	3	WDR38	9	127618187	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	15955561	127618187	13595244	15	1248										
NCAM1	4684	broad.mit.edu	37	chr11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacgccgtaaggctggcggCgctcaatggcaaagggctgg	17	10	1	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.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		Somatic				NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V	p.A578V	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	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	9	15	---	---	---	---	T	113105824	C	T	113105824	3	4	12	1	0	0	0	0	1	0	0	0	10202	768	27	2	1818	2	NCAM1	11	113105824	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		113105824	21900692	16	1249										
MLL	4297	broad.mit.edu	37	chr11	118343971	118343971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagccctcttctgagagcTccaagatttactccaagtga	9	11	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.chr11:118343971T>C	ENST00000389506.5	+	3	2097	c.2097T>C	c.(2095-2097)gcT>gcC	p.A699A	KMT2A_ENST00000534358.1_Silent_p.A699A|KMT2A_ENST00000354520.4_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			Somatic				KMT2A_ENST00000354520.4_Silent_p.A699A|KMT2A_ENST00000389506.5_Silent_p.A699A	p.A699A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					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	33	124	---	---	---	---	C	118343971	T	C	118343971	2	2	12	1	0	0	0	0	0	0	0	1	9620	1538	54	2		2	MLL	11	118343971	Silent	SNP	T	TCGA-CH-5744-01A-11D-1576-08	5238147	118343971	16662545	17	1250										
OR10G9	219870	broad.mit.edu	37	chr11	123893785	123893785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccatgccccagggctggaCgccccactctttggaatctt	9	17	2	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.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			Somatic					p.D22D	NM_001001953.1	NP_001001953.1	WXS	Illumina GAIIx	Phase_I	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	18	416	---	---	---	---	T	123893785	C	T	123893785	2	4	12	1	0	0	0	0	0	0	0	1	10904	535	19	2		2	OR10G9	11	123893785	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	5549814	123893785	11112731	18	1251										
OR10G7	390265	broad.mit.edu	37	chr11	123909643	123909643	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagattccaaagaggggggcGtccagccctggggcatgggg	18	9	0	2	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			Somatic					p.D22D	NM_001004463.1	NP_001004463.1	WXS	Illumina GAIIx	Phase_I	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	12	129	---	---	---	---	A	123909643	G	A	123909643	2	1	12	1	0	0	0	0	0	0	0	1	10902	1136	40	2		2	OR10G7	11	123909643	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	15858	123909643	11096873	19	1252										
BARX2	8538	broad.mit.edu	37	chr11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatcgcaggatgaaatggaAgaaaatggtaagaaaggagt	14	2	0	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.chr11:129312807A>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		Somatic				BARX2_ENST00000526127.1_Missense_Mutation_p.K44R|BARX2_ENST00000531946.1_Missense_Mutation_p.K67R	p.K189R	NM_003658.4	NP_003649.2	WXS	Illumina GAIIx	Phase_I	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	7	125	---	---	---	---	G	129312807	A	G	129312807	3	3	12	1	0	0	0	0	1	0	0	0	1316	72	3	2	576	2	BARX2	11	129312807	Missense_Mutation	SNP	A	TCGA-CH-5744-01A-11D-1576-08	5403164	129312807	5693709	20	1253										
MBD6	114785	broad.mit.edu	37	chr12	57920425	57920425	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	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)ctgfs		methyl-CpG binding domain protein 6							42	52	48					12																	57920425		2203	4300	6503	SO:0001589	frameshift_variant	114785					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		Somatic				MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	p.L499fs	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	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	12	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	21	1254										
SPIC	121599	broad.mit.edu	37	chr12	101876611	101876611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgaaggaaatattcatcaAtctctgcagaacataactga	6	7	3	3	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			Somatic				SPIC_ENST00000299272.5_Silent_p.Q84Q	p.Q84Q			WXS	Illumina GAIIx	Phase_I	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	131	332	---	---	---	---	G	101876611	A	G	101876611	2	3	12	1	0	0	0	0	0	0	0	1	15050	98	4	2		2	SPIC	12	101876611	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08	43956186	101876611	31975284	22	1255										
FERMT2	10979	broad.mit.edu	37	chr14	53385917	53385917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaccttcacatacttcatGttgggaagctgcaggcggag	11	10	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.chr14:53385917G>T	ENST00000395631.2	-	3	531	c.315C>A	c.(313-315)aaC>aaA	p.N105K	FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_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		Somatic				FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K|FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K	p.N105K			WXS	Illumina GAIIx	Phase_I	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	6	288	---	---	---	---	T	53385917	G	T	53385917	3	4	12	1	0	0	0	0	1	0	0	0	5818	1368	48	3	1816	3	FERMT2	14	53385917	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		53385917	53963623	23	1256										
C15orf63	25764	broad.mit.edu	37	chr15	44094002	44094002	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcttattgccctaaccaacTgatgcgtgctttctcaaata	6	12	1	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.chr15:44094002T>G	ENST00000406925.1	+	5	4499	c.388T>G	c.(388-390)Tga>Gga	p.*130G	HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G|SERINC4_ENST00000319327.6_5'Flank|SERINC4_ENST00000299969.6_5'Flank|SERINC4_ENST00000249714.3_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G			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		Somatic				SERF2_ENST00000594896.1_Nonstop_Mutation_p.*176G|HYPK_ENST00000442995.2_Nonstop_Mutation_p.*130G|HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Nonstop_Mutation_p.*130G	p.*130G			WXS	Illumina GAIIx	Phase_I				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	31	92	---	---	---	---	G	44094002	T	G	44094002	4	3	12	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	24	1257										
ZNF434	54925	broad.mit.edu	37	chr16	3440104	3440104	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattcttgctgacagagggaTacagctctgttgtcacgcat	10	10	3	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.chr16:3440104T>A	ENST00000396852.4	-	5	964	c.657A>T	c.(655-657)gtA>gtT	p.V219V	ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000573830.1_Intron	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			Somatic				ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Silent_p.V7V|ZSCAN32_ENST00000574940.1_Silent_p.V219V|ZSCAN32_ENST00000396846.3_Silent_p.V219V|ZSCAN32_ENST00000304926.3_Silent_p.V7V	p.V219V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	WXS	Illumina GAIIx	Phase_I					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	13	39	---	---	---	---	A	3440104	T	A	3440104	2	1	12	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	25	1258										
ZNF521	25925	broad.mit.edu	37	chr18	22804338	22804338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggagggactgattctggGcattggtgatacttggggcg	18	6	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.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		Somatic				ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S	p.P1182S	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	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	4	191	---	---	---	---	A	22804338	G	A	22804338	3	1	12	1	0	0	0	0	1	0	0	0	17962	1203	42	2	411	2	ZNF521	18	22804338	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		22804338	55272910	26	1259										
TMEM146	257062	broad.mit.edu	37	chr19	5768180	5768180	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtccacttttgcttgcagcAaagtttccgcctgttccatg	8	12	0	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.chr19:5768180A>C	ENST00000381624.3	+	18	1622	c.1561A>C	c.(1561-1563)Aaa>Caa	p.K521Q	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q	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.(1561-1563)Aaa>Caa		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			Somatic				CATSPERD_ENST00000381614.2_Splice_Site_p.K179Q|CATSPERD_ENST00000309164.7_3'UTR	p.K521Q	NM_152784.3	NP_689997.3	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			18	1622	+			521					Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37	c.1561A>C	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	39	104	---	---	---	---	C	5768180	A	C	5768180	5	2	12	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	27	1260										
LDLR	3949	broad.mit.edu	37	chr19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgatgtcaacgggggcaacCggaagaccatcttggaggat	14	9	2	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_ENST00000455727.2_Missense_Mutation_p.R427W|LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W	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		Somatic				LDLR_ENST00000545707.1_Missense_Mutation_p.R468W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000558013.1_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	WXS	Illumina GAIIx	Phase_I	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	73	342	---	---	---	---	T	11227612	C	T	11227612	3	4	12	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	28	1261										
JAK3	3718	broad.mit.edu	37	chr19	17950419	17950419	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggccaaccagaaggaaggtTcctgtggggctgcgccggat	16	10	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.chr19:17950419T>A	ENST00000527670.1	-	9	1337	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_ENST00000458235.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.G436G			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			Somatic				JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.G436G	p.G436G	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	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	5	30	---	---	---	---	A	17950419	T	A	17950419	2	1	12	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	29	1262										
TSKS	60385	broad.mit.edu	37	chr19	50248602	50248602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagccgcagggcttcctgCaccgccccctcctcctgatg	10	19	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			Somatic				TSKS_ENST00000358830.3_Silent_p.V148V	p.V348V	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	T	50248602	C	T	50248602	2	4	12	1	0	0	0	0	0	0	0	1	16623	697	25	2		2	TSKS	19	50248602	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	32298183	50248602	8880381	30	1263										
SNX12	29934	broad.mit.edu	37	chrX	70280884	70280884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctactggcgcaccttcccCgggacgtagttcctgtcaat	9	15	1	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	A	70280884	C	A	70280884	2	1	12	1	0	0	0	0	0	0	0	1	14883	639	23	1		1	SNX12	23	70280884	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08		70280884	84989676	31	1264										
ZNF683	257101	broad.mit.edu	37	chr1	26691329	26691329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	agctcattgaccatcatcagCaggctaggcatagccatggt	10	11	3	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.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_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			Somatic				ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L	p.L236L			WXS	Illumina GAIIx	Phase_I	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	13	119	---	---	---	---	A	26691329	C	A	26691329	2	1	13	1	0	0	0	0	0	0	0	1	18087	697	25	3		3	ZNF683	1	26691329	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08		26691329	222559292	1	1265										
CYR61	3491	broad.mit.edu	37	chr1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	gtattgttcaaacaacttcaTggtcccagtgctcaaagacc	7	11	3	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	13	110	---	---	---	---	C	86048170	T	C	86048170	3	2	13	1	0	0	0	0	1	0	0	0	4199	1464	51	2	720	2	CYR61	1	86048170	Missense_Mutation	SNP	T	TCGA-CH-5746-01A-11D-1576-08	59356841	86048170	163202451	2	1266										
PDK1	5163	broad.mit.edu	37	chr2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	ccatatcacgtctttacgcaCaatacttccaaggagacctg	6	13	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.chr2:173457705C>A	ENST00000282077.3	+	10	1281	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K			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																													ENST00000282077.3																			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		Somatic				PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K	p.Q367K			WXS	Illumina GAIIx	Phase_I	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1281	+						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	4	160	---	---	---	---	A	173457705	C	A	173457705	3	1	13	1	0	0	0	0	1	0	0	0	11675	479	17	3	1137	3	PDK1	2	173457705	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		173457705	69741668	3	1267										
CHPF	79586	broad.mit.edu	37	chr2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	caggctgaggtggccagttaGgcgtgccaggccgtgcgcct	17	12	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.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank	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		Somatic	OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I	p.L212I	NM_024536.5	NP_078812	WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	T	220406592	G	T	220406592	3	4	13	1	0	0	0	0	1	0	0	0	3368	991	35	1	1705	1	CHPF	2	220406592	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	46948887	220406592	22792781	4	1268										
PHF15	23338	broad.mit.edu	37	chr5	133914476	133914476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	ccaccaccaccgcaggacggGcctggttcacggacgactcc	11	18	1	0			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_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000395003.1_Silent_p.G614G														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	23338				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			Somatic				PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000282605.4_Silent_p.G658G	p.G614G	NM_015288.4	NP_056103.4	WXS	Illumina GAIIx	Phase_I	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	5	48	---	---	---	---	A	133914476	G	A	133914476	2	1	13	1	0	0	0	0	0	0	0	1	11826	1190	42	2		2	PHF15	5	133914476	Silent	SNP	G	TCGA-CH-5746-01A-11D-1576-08		133914476	47000784	5	1269										
DPYSL2	1808	broad.mit.edu	37	chr8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	tgtctctctctcagatttatGaagtactgagtgtgatccgg	10	8	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.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_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		Somatic				DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR	p.E183K	NM_001386.5	NP_001377.1	WXS	Illumina GAIIx	Phase_I	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	14	55	---	---	---	---	A	26484737	G	A	26484737	3	1	13	1	0	0	0	0	1	0	0	0	4747	1291	45	2	569	2	DPYSL2	8	26484737	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		26484737	119879285	6	1270										
CNGA4	1262	broad.mit.edu	37	chr11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	gctgaaccgctttctccgcgCgccccgcctcttcgaggcct	10	19	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.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		Somatic				CNGA4_ENST00000533426.1_Intron	p.A147V	NM_001037329.3	NP_001032406.1	WXS	Illumina GAIIx	Phase_I	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	5	205	---	---	---	---	T	6261464	C	T	6261464	3	4	13	1	0	0	0	0	1	0	0	0	3599	768	27	2	454	2	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		6261464	128745052	7	1271										
SLC2A14	144195	broad.mit.edu	37	chr12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	ccataaggcagccaccagtgGcagccaacaggttgacaatc	10	13	0	1	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_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000542505.1_Intron			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		Somatic				SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V	p.A126V			WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	A	7982567	G	A	7982567	3	1	13	1	0	0	0	0	1	0	0	0	14543	1203	42	2	1213	2	SLC2A14	12	7982567	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		7982567	125869328	8	1272										
GALNT4	8693	broad.mit.edu	37	chr12	89917323	89917323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	acagctcaaggttttcacctCcccacacttccattcctgtg	5	16	2	0			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-GALNT4_ENST00000547474.1_3'UTR|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G332A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_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	100528030							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		Somatic				POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	p.G332A	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1	WXS	Illumina GAIIx	Phase_I					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	42	257	---	---	---	---	G	89917323	C	G	89917323	3	3	13	1	0	0	0	0	1	0	0	0	6215	855	30	4	736	4	GALNT4	12	89917323	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08	81934756	89917323	43934572	9	1273										
NOX5	79400	broad.mit.edu	37	chr15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	ccccactgactccaggtgttCcagaaagtggctgctgagaa	11	12	0	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.chr15:69348910C>A	ENST00000388866.3	+	16	2213	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	NOX5_ENST00000448182.3_Missense_Mutation_p.F678L|NOX5_ENST00000260364.5_Missense_Mutation_p.F706L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L	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		Somatic				NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L	p.F706L			WXS	Illumina GAIIx	Phase_I	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	26	145	---	---	---	---	A	69348910	C	A	69348910	3	1	13	1	0	0	0	0	1	0	0	0	10559	854	30	3	2267	3	NOX5	15	69348910	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		69348910	33182482	10	1274										
HRC	3270	broad.mit.edu	37	chr19	49656664	49656664	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	caccagcccaggccacttacCtgtgtcctcaccgctttcct	6	19	1	0			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.(1831-1833)Ggt>Tgt		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			Somatic				HRC_ENST00000595625.1_Splice_Site_p.G611C	p.G611C	NM_002152.2	NP_002143.1	WXS	Illumina GAIIx	Phase_I	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.1831G>T	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	3	72	---	---	---	---	A	49656664	C	A	49656664	5	1	13	1	0	0	0	0	0	0	1	0	7352	695	24	1	292	1	HRC	19	49656664	Splice_Site	SNP	C	TCGA-CH-5746-01A-11D-1576-08		49656664	9472319	11	1275										
NCAM2	4685	broad.mit.edu	37	chr21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.64848484848485	0	2.06060606060606	1	1	0	agctgccaatagattgggatAttctgaaccgacagtttatg	10	7	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.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		Somatic				NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	p.Y674C	NM_004540.3	NP_004531.2	WXS	Illumina GAIIx	Phase_I	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	21	129	---	---	---	---	G	22849736	A	G	22849736	3	3	13	1	0	0	0	0	1	0	0	0	10203	449	16	2	2079	2	NCAM2	21	22849736	Missense_Mutation	SNP	A	TCGA-CH-5746-01A-11D-1576-08		22849736	25280159	12	1276										
DEPDC1	55635	broad.mit.edu	37	chr1	68948183	68948183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tgatgaaagacactggatgcCtctttacttgaattccctgg	9	9	1	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	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	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		Somatic				RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	p.E436D	NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	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	9	227	---	---	---	---	G	68948183	C	G	68948183	3	3	14	1	0	0	0	0	1	0	0	0	4439	680	24	4	1147	4	DEPDC1	1	68948183	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		68948183	180302438	1	1277										
HNRPLL	92906	broad.mit.edu	37	chr2	38818746	38818746	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tcacagagtcctcgaacatgGacgacgggtgaaacagaaac	11	10	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.chr2:38818746G>C	ENST00000449105.3	-	2	573	c.234C>G	c.(232-234)gtC>gtG	p.V78V	HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR			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																																						ENST00000449105.3																			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			Somatic				HNRNPLL_ENST00000410076.1_Silent_p.V73V|HNRNPLL_ENST00000498516.1_5'UTR|HNRNPLL_ENST00000409328.1_Silent_p.V78V|HNRNPLL_ENST00000409636.1_Silent_p.V73V|HNRNPLL_ENST00000608859.1_Silent_p.V78V|HNRNPLL_ENST00000378915.3_Silent_p.V78V|HNRNPLL_ENST00000358367.4_Silent_p.V78V	p.V78V			WXS	Illumina GAIIx	Phase_I					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	17	123	---	---	---	---	C	38818746	G	C	38818746	2	2	14	1	0	0	0	0	0	0	0	1	7277	1161	41	4		4	HNRPLL	2	38818746	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		38818746	204380627	2	1278										
TMEFF2	23671	broad.mit.edu	37	chr2	193056699	193056699	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tcacagaggaagagatcattTtctctgtcatcataacctca	6	10	6	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.chr2:193056699T>C	ENST00000272771.5	-	2	1373	c.189A>G	c.(187-189)gaA>gaG	p.E63E	TMEFF2_ENST00000409056.3_Silent_p.E63E|TMEFF2_ENST00000392314.1_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			Somatic				TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000272771.5_Silent_p.E63E	p.E63E			WXS	Illumina GAIIx	Phase_I	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	7	58	---	---	---	---	C	193056699	T	C	193056699	2	2	14	1	0	0	0	0	0	0	0	1	16011	1838	64	2		2	TMEFF2	2	193056699	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08	154237953	193056699	50142674	3	1279										
C3orf38	285237	broad.mit.edu	37	chr3	88202584	88202584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	attgaaggaaacgccagagcCagttacaaagacagaggaca	11	8	0	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.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		Somatic				C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	p.P113L	NM_173824.3	NP_776185.2	WXS	Illumina GAIIx	Phase_I	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	5	71	---	---	---	---	T	88202584	C	T	88202584	3	4	14	1	0	0	0	0	1	0	0	0	2228	594	21	2	344	2	C3orf38	3	88202584	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		88202584	109819846	4	1280										
SH3TC1	54436	broad.mit.edu	37	chr4	8235132	8235132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tacaccaaacgaagtctgggGattttcattgacctccagaa	8	10	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.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			Somatic				SH3TC1_ENST00000245105.3_Silent_p.G1058G	p.G982G			WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	A	8235132	G	A	8235132	2	1	14	1	0	0	0	0	0	0	0	1	14261	1161	41	2		2	SH3TC1	4	8235132	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		8235132	182919144	5	1281										
C4orf23	152992	broad.mit.edu	37	chr4	8467202	8467202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gtaagaagactcagtaccggGaataccttgacttcattaaa	8	8	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.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		Somatic				TRMT44_ENST00000513449.2_Missense_Mutation_p.E229Q	p.E470Q	NM_152544.2	NP_689757.2	WXS	Illumina GAIIx	Phase_I					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	5	126	---	---	---	---	C	8467202	G	C	8467202	3	2	14	1	0	0	0	0	1	0	0	0	2256	1175	41	4	1438	4	C4orf23	4	8467202	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	232070	8467202	182687074	6	1282										
CWH43	80157	broad.mit.edu	37	chr4	48994016	48994016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gttgttctacgcatatggtaTacttcactaaacccaatctg	6	10	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.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			Somatic				CWH43_ENST00000513409.1_Silent_p.Y113Y	p.Y140Y	NM_025087.2	NP_079363.2	WXS	Illumina GAIIx	Phase_I	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	13	111	---	---	---	---	C	48994016	T	C	48994016	2	2	14	1	0	0	0	0	0	0	0	1	4073	1413	49	2		2	CWH43	4	48994016	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08	40526814	48994016	142160260	7	1283										
PCDH18	54510	broad.mit.edu	37	chr4	138451489	138451489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tgggaatggtgatttctgccGtattattacgcaatgcaggc	12	7	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.chr4:138451489G>A	ENST00000344876.4	-	1	2140	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M	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		Somatic				PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M|PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	p.T585M	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	9	425	---	---	---	---	A	138451489	G	A	138451489	3	1	14	1	0	0	0	0	1	0	0	0	11513	1145	40	2	1669	2	PCDH18	4	138451489	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	89457473	138451489	52702787	8	1284										
SNX18	112574	broad.mit.edu	37	chr5	53814839	53814839	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	aggacttcatctctaagcgcAggaagggcctgatctggtgg	14	9	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.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		Somatic				SNX18_ENST00000326277.3_Missense_Mutation_p.R353W|SNX18_ENST00000381410.4_Missense_Mutation_p.R353W	p.R353W	NM_001145427.1	NP_001138899.1	WXS	Illumina GAIIx	Phase_I	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	7	64	---	---	---	---	T	53814839	A	T	53814839	3	4	14	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	9	1285										
TTC37	9652	broad.mit.edu	37	chr5	94857934	94857934	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tcaaggctgttgtgtagcctCctctgcttaagtatgcttct	9	10	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.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		Somatic					p.G612A	NM_014639.3	NP_055454.1	WXS	Illumina GAIIx	Phase_I	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	19	137	---	---	---	---	G	94857934	C	G	94857934	3	3	14	1	0	0	0	0	1	0	0	0	16702	855	30	4	2959	4	TTC37	5	94857934	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	41043095	94857934	86057326	10	1286										
SLC25A2	83884	broad.mit.edu	37	chr5	140682861	140682861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	aaaacgatcggctcagttcaTagccaccaaagaaaaagaaa	7	9	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.chr5:140682861T>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		Somatic					p.Y191C	NM_031947.2	NP_114153.1	WXS	Illumina GAIIx	Phase_I	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	12	122	---	---	---	---	C	140682861	T	C	140682861	3	2	14	1	0	0	0	0	1	0	0	0	14482	1406	49	2	337	2	SLC25A2	5	140682861	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	45824927	140682861	40232399	11	1287										
EYS	346007	broad.mit.edu	37	chr6	66205253	66205253	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	catgtttttccatttatgaaAgagctgtgaaaaaccatcag	7	7	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.chr6:66205253A>T	ENST00000370621.3	-	4	577	c.51T>A	c.(49-51)tcT>tcA	p.S17S	EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S|EYS_ENST00000503581.1_Silent_p.S17S|EYS_ENST00000370616.2_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			Somatic				EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S	p.S17S	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	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	16	95	---	---	---	---	T	66205253	A	T	66205253	2	4	14	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	12	1288										
HTR1E	3354	broad.mit.edu	37	chr6	87725481	87725481	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	aagagggccgcgctgatgatCcttaccgtctggaccatctc	11	13	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.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																																						ENST00000305344.5																			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			Somatic					p.I143I	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	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)						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	12	83	---	---	---	---	A	87725481	C	A	87725481	2	1	14	1	0	0	0	0	0	0	0	1	7439	845	30	3		3	HTR1E	6	87725481	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	21520228	87725481	83389586	13	1289										
SCARA5	286133	broad.mit.edu	37	chr8	27762295	27762295	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	ccccagcagaatgtccttacTggcatccccagctctgtctc	7	17	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	SCARA5_ENST00000524352.1_Missense_Mutation_p.S385R|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|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			Somatic				SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|SCARA5_ENST00000354914.3_Splice_Site_p.S385R|SCARA5_ENST00000380385.2_Splice_Site_p.S160R|SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|RP11-597M17.1_ENST00000517735.1_RNA	p.S385R			WXS	Illumina GAIIx	Phase_I	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	6	51	---	---	---	---	G	27762295	T	G	27762295	5	3	14	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	14	1290										
RNLS	55328	broad.mit.edu	37	chr10	90342915	90342915	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gcagcgcacaagcttcctgtCatcccggcgcccacgatcag	10	17	2	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.chr10:90342915C>T	ENST00000331772.4	-	1	55	c.33G>A	c.(31-33)atG>atA	p.M11I	RNLS_ENST00000371947.3_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_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		Somatic	OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1274	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.M11I|RNLS_ENST00000437752.1_Missense_Mutation_p.M11I	p.M11I	NM_018363.3	NP_060833.1	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	T	90342915	C	T	90342915	3	4	14	1	0	0	0	0	1	0	0	0	13505	826	29	2	1099	2	RNLS	10	90342915	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		90342915	45191832	15	1291										
NUP98	4928	broad.mit.edu	37	chr11	3721914	3721914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gaatgacagcaactcccagaTtggggacaatgagaggacac	12	9	0	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.chr11:3721914T>C	ENST00000324932.7	-	24	4088	c.3668A>G	c.(3667-3669)aAt>aGt	p.N1223S	NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S|NUP98_ENST00000359171.4_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		Somatic				NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S	p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	WXS	Illumina GAIIx	Phase_I	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	5	94	---	---	---	---	C	3721914	T	C	3721914	3	2	14	1	0	0	0	0	1	0	0	0	10773	1493	52	2	1774	2	NUP98	11	3721914	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		3721914	131284602	16	1292										
NAV2	89797	broad.mit.edu	37	chr11	19955124	19955124	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gagcgaggagctggaggccgCcagtcgcatgctcaccaccg	15	14	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.chr11:19955124C>G	ENST00000396087.3	+	8	1502	c.1403C>G	c.(1402-1404)gCc>gGc	p.A468G	NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000396085.1_Missense_Mutation_p.A445G	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		Somatic				NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000396087.3_Missense_Mutation_p.A468G	p.A445G	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	G	19955124	C	G	19955124	3	3	14	1	0	0	0	0	1	0	0	0	10184	739	26	4	1439	4	NAV2	11	19955124	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	16233210	19955124	115051392	17	1293										
NPAT	4863	broad.mit.edu	37	chr11	108032027	108032027	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	cggggcacaggtaaatcactActatcagcaagcctacttac	8	12	2	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.chr11:108032027A>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			Somatic					p.S1262S	NM_002519.2	NP_002510.2	WXS	Illumina GAIIx	Phase_I	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	6	234	---	---	---	---	G	108032027	A	G	108032027	2	3	14	1	0	0	0	0	0	0	0	1	10566	388	14	2		2	NPAT	11	108032027	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	88076903	108032027	26974489	18	1294										
C1S	716	broad.mit.edu	37	chr12	7177943	7177943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	atgcaggaaaatagcaccccCcgtgaggactaatccagata	9	11	0	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.chr12:7177943C>T	ENST00000406697.1	+	15	2683	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000402681.3_Silent_p.P518P|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			Somatic				C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P	p.P685P			WXS	Illumina GAIIx	Phase_I	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	15	127	---	---	---	---	T	7177943	C	T	7177943	2	4	14	1	0	0	0	0	0	0	0	1	1974	610	22	2		2	C1S	12	7177943	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08		7177943	126673952	19	1295										
FREM2	341640	broad.mit.edu	37	chr13	39262558	39262558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gacctgttgatcttcaacctTacttctccattccagcctgg	6	14	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.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			Somatic					p.L359L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	5	79	---	---	---	---	C	39262558	T	C	39262558	2	2	14	1	0	0	0	0	0	0	0	1	6045	1741	61	2		2	FREM2	13	39262558	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08		39262558	75907320	20	1296										
GPR183	1880	broad.mit.edu	37	chr13	99948335	99948335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tgctgtgatgtgcatagaggTcacagtcatttccctgagga	12	8	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.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		Somatic				UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	p.D22A	NM_004951.4	NP_004942.1	WXS	Illumina GAIIx	Phase_I	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	7	96	---	---	---	---	G	99948335	T	G	99948335	3	3	14	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	21	1297										
PROZ	8858	broad.mit.edu	37	chr13	113825982	113825982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tgcacatgcggtatgacgcgGacgcgggggagaatgacctg	17	9	0	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.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		Somatic				PROZ_ENST00000375547.2_Missense_Mutation_p.D256N	p.D278N	NM_001256134.1	NP_001243063.1	WXS	Illumina GAIIx	Phase_I	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	9	129	---	---	---	---	A	113825982	G	A	113825982	3	1	14	1	0	0	0	0	1	0	0	0	12562	1174	41	2	796	2	PROZ	13	113825982	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	13877647	113825982	1343896	22	1298										
DHRS7	51635	broad.mit.edu	37	chr14	60619800	60619800	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tgtcaaggacaccgtccctaAgtagttaagctctattagct	8	10	2	0	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_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			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		Somatic				DHRS7_ENST00000553986.1_5'UTR|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V	p.L164V			WXS	Illumina GAIIx	Phase_I	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	16	174	---	---	---	---	C	60619800	A	C	60619800	3	2	14	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	23	1299										
ETFA	2108	broad.mit.edu	37	chr15	76584842	76584842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	tctgagttgccaaaatcaatGgtgtcagttcctctgagaat	9	8	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_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_5'UTR	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		Somatic				ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L	p.P94L	NM_000126.3	NP_000117.1	WXS	Illumina GAIIx	Phase_I	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	7	102	---	---	---	---	A	76584842	G	A	76584842	3	1	14	1	0	0	0	0	1	0	0	0	5269	1348	47	2	756	2	ETFA	15	76584842	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		76584842	25946550	24	1300										
ITFG3	83986	broad.mit.edu	37	chr16	309488	309488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gttttctctttcagttatctAtgactttctggctgtggatg	9	7	4	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.chr16:309488A>G	ENST00000399932.3	+	4	726	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_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		Somatic				ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C	p.Y92C	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	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	19	369	---	---	---	---	G	309488	A	G	309488	3	3	14	1	0	0	0	0	1	0	0	0	7871	449	16	2	281	2	ITFG3	16	309488	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		309488	90045265	25	1301										
PKD1	5310	broad.mit.edu	37	chr16	2140788	2140788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	aaagacggaccactggcgcaCgaagcgtagctgctgggcag	15	11	0	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	MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M|RP11-304L19.1_ENST00000570072.1_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		Somatic				PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M	p.V4009M	NM_001009944.2	NP_001009944	WXS	Illumina GAIIx	Phase_I	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	14	78	---	---	---	---	T	2140788	C	T	2140788	3	4	14	1	0	0	0	0	1	0	0	0	11963	536	19	2	898	2	PKD1	16	2140788	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	1831300	2140788	88213965	26	1302										
CREBBP	1387	broad.mit.edu	37	chr16	3786756	3786756	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	ttttgatcaggtgggtggcaAtggaagatgtaatcatctcc	12	6	3	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.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			Somatic				CREBBP_ENST00000382070.3_Silent_p.H1447H	p.H1485H	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	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	16	169	---	---	---	---	G	3786756	A	G	3786756	2	3	14	1	0	0	0	0	0	0	0	1	3861	98	4	2		2	CREBBP	16	3786756	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	1645968	3786756	86567997	27	1303										
XPO6	23214	broad.mit.edu	37	chr16	28157508	28157508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	agatatccaaacaagagaagTaaccttcatgagtaggctat	8	7	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.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		Somatic				XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	p.Y414C	NM_015171.3	NP_055986.1	WXS	Illumina GAIIx	Phase_I	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	5	124	---	---	---	---	C	28157508	T	C	28157508	3	2	14	1	0	0	0	0	1	0	0	0	17445	1638	57	2	2200	2	XPO6	16	28157508	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	24370752	28157508	62197245	28	1304										
CRK	1398	broad.mit.edu	37	chr17	1359240	1359240	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gctgttgatgatgtagtgggAgacgcgcgagttctctgaga	16	6	1	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.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		Somatic				CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	p.S58A	NM_016823.3	NP_058431.2	WXS	Illumina GAIIx	Phase_I	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	7	40	---	---	---	---	C	1359240	A	C	1359240	3	2	14	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	29	1305										
NEURL4	84461	broad.mit.edu	37	chr17	7221921	7221921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	atgaagatgcagccccccagAgctgtccagccgcagtccca	10	16	0	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.chr17:7221921A>G	ENST00000399464.2	-	23	3772	c.3757T>C	c.(3757-3759)Tct>Cct	p.S1253P	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000574120.1_5'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I					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	8	63	---	---	---	---	G	7221921	A	G	7221921	3	3	14	1	0	0	0	0	1	0	0	0	10347	304	11	2	959	2	NEURL4	17	7221921	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08	5862681	7221921	73973289	30	1306										
NLE1	54475	broad.mit.edu	37	chr17	33462276	33462276	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	acccctactcacttgcccgtCctgccatcccacagcttgat	5	19	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.chr17:33462276C>T	ENST00000442241.4	-	10	1245	c.1206G>A	c.(1204-1206)agG>agA	p.R402R	NLE1_ENST00000586869.1_Silent_p.R110R|NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000593176.1_5'Flank	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			Somatic				NLE1_ENST00000360831.5_Silent_p.R360R|NLE1_ENST00000442241.4_Silent_p.R402R	p.R110R			WXS	Illumina GAIIx	Phase_I	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	9	80	---	---	---	---	T	33462276	C	T	33462276	2	4	14	1	0	0	0	0	0	0	0	1	10460	854	30	2		2	NLE1	17	33462276	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	26240355	33462276	47732934	31	1307										
ZNF781	163115	broad.mit.edu	37	chr19	38160949	38160949	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	gctttccacatatctgacatTcatagggtttctgattagca	7	9	3	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.chr19:38160949T>A	ENST00000590008.1	-	5	953	c.101A>T	c.(100-102)gAa>gTa	p.E34V	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron			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		Somatic				ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron	p.E34V	NM_152605.3	NP_689818.2	WXS	Illumina GAIIx	Phase_I	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	21	290	---	---	---	---	A	38160949	T	A	38160949	3	1	14	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		38160949	20968034	32	1308										
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0606060606060606	2	1	0.742857142857143	0	1.11428571428571	0.333333333333333	1	0	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	12	7	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	T	70349258	C	T	70349258	3	4	14	1	0	0	0	0	1	0	0	0	9428	913	32	2	3772	2	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		70349258	84921302	33	1309										
PLCH2	9651	broad.mit.edu	37	chr1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ttgacgaggccgacaagaacGgggatggcagcctgagcatt	15	9	0	3	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_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000449969.1_Missense_Mutation_p.G158W			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		Somatic				PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W	p.G158W			WXS	Illumina GAIIx	Phase_I	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	36	100	---	---	---	---	T	2411659	G	T	2411659	3	4	15	1	0	0	0	0	1	0	0	0	12038	1116	39	1	567	1	PLCH2	1	2411659	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		2411659	246838962	1	1310										
VAV3	10451	broad.mit.edu	37	chr1	108247662	108247662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tcgtggaaattggagtctgcAtagtctggtcttatgttaga	12	5	3	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.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000371846.4_Silent_p.Y443Y	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			Somatic				VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000527011.1_Silent_p.Y508Y|VAV3_ENST00000343258.4_5'UTR	p.Y508Y	NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	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	3	133	---	---	---	---	G	108247662	A	G	108247662	2	3	15	1	0	0	0	0	0	0	0	1	17130	224	8	2		2	VAV3	1	108247662	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08	105836003	108247662	141002959	2	1311										
MSH6	2956	broad.mit.edu	37	chr2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	aaaagagaagagatgagcacAggaggaggcctgatcacccc	13	9	1	4	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																													ENST00000234420.5			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		Somatic				MSH6_ENST00000540021.1_Missense_Mutation_p.R253G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R81G	p.R383G	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	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)						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	47	110	---	---	---	---	G	48026269	A	G	48026269	3	3	15	1	0	0	0	0	1	0	0	0	9874	179	7	2	1161	2	MSH6	2	48026269	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		48026269	195173104	3	1312										
PROM2	150696	broad.mit.edu	37	chr2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	gaaggcagtggcccagcagcCggaaggggtgaggacactgg	19	9	0	1	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_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_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		Somatic				PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q	p.P381Q	NM_001165978.1	NP_001159450.1	WXS	Illumina GAIIx	Phase_I	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	3	99	---	---	---	---	A	95944760	C	A	95944760	3	1	15	1	0	0	0	0	1	0	0	0	12556	652	23	1	1180	1	PROM2	2	95944760	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	47918491	95944760	147254613	4	1313										
SSB	6741	broad.mit.edu	37	chr2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ggttagaagataaaggtcaaGtactaaatattcagatgaga	10	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.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		Somatic				SSB_ENST00000260956.4_Missense_Mutation_p.V137L	p.V137L			WXS	Illumina GAIIx	Phase_I	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	5	165	---	---	---	---	T	170663358	G	T	170663358	3	4	15	1	0	0	0	0	1	0	0	0	15177	1029	36	3	423	3	SSB	2	170663358	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	74718598	170663358	72536015	5	1314										
TTN	7273	broad.mit.edu	37	chr2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tatttgtattccacccttgaCagaaacatccagttccacag	5	12	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.chr2:179472383C>T	ENST00000591111.1	-	227	48333	c.48109G>A	c.(48109-48111)Gtc>Atc	p.V16037I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V17678I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN-AS1_ENST00000586452.1_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		Somatic				TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.V17678I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	79	116	---	---	---	---	T	179472383	C	T	179472383	3	4	15	1	0	0	0	0	1	0	0	0	16732	478	17	2	55005	2	TTN	2	179472383	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8809025	179472383	63726990	6	1315										
ZDBF2	57683	broad.mit.edu	37	chr2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ctgtcacagaaacaaaacttCggaagaaggctcataccagc	8	11	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.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		Somatic					p.R563W	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	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	27	47	---	---	---	---	T	207170939	C	T	207170939	3	4	15	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	7	1316										
BRPF1	7862	broad.mit.edu	37	chr3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	gctggagggccgcaagtccaAcatccgcaagtcagtacaga	12	12	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.chr3:9788936A>G	ENST00000457855.1	+	13	3559	c.3548A>G	c.(3547-3549)aAc>aGc	p.N1183S	OGG1_ENST00000383826.5_5'Flank|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000302008.8_5'Flank|OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000449570.2_5'Flank|OGG1_ENST00000302003.7_5'Flank|BRPF1_ENST00000383829.2_Missense_Mutation_p.N1189S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000344629.7_5'Flank			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		Somatic				BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S	p.N1189S	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	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	28	124	---	---	---	---	G	9788936	A	G	9788936	3	3	15	1	0	0	0	0	1	0	0	0	1520	43	2	2	3616	2	BRPF1	3	9788936	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		9788936	188233494	8	1317										
SLITRK3	22865	broad.mit.edu	37	chr3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ttaacctatttccacgtaggTccaaatgggttaaagagaca	8	8	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.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)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G	p.D202G			WXS	Illumina GAIIx	Phase_I	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	56	117	---	---	---	---	C	164908014	T	C	164908014	3	2	15	1	0	0	0	0	1	0	0	0	14744	1667	58	2	2332	2	SLITRK3	3	164908014	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	155119078	164908014	33114416	9	1318										
P4HA2	8974	broad.mit.edu	37	chr5	131531126	131531126	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ttcttaggccaaattgcagcCcccagatcagggaagacggt	11	11	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.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	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|P4HA2-AS1_ENST00000417667.1_RNA			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			Somatic				P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000166534.4_Silent_p.G473G|P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000360568.3_Silent_p.G471G	p.G473G			WXS	Illumina GAIIx	Phase_I	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	32	79	---	---	---	---	A	131531126	C	A	131531126	2	1	15	1	0	0	0	0	0	0	0	1	11357	610	22	1		1	P4HA2	5	131531126	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08		131531126	49384134	10	1319										
TCOF1	6949	broad.mit.edu	37	chr5	149755319	149755319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	aacatcctccaggccaaaccCacctccagtcctgccaaggg	7	18	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.chr5:149755319C>T	ENST00000504761.2	+	12	1740	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P|TCOF1_ENST00000451292.1_Silent_p.P580P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P			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			Somatic				TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P	p.P580P			WXS	Illumina GAIIx	Phase_I	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	51	146	---	---	---	---	T	149755319	C	T	149755319	2	4	15	1	0	0	0	0	0	0	0	1	15705	581	21	2		2	TCOF1	5	149755319	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	18224193	149755319	31159941	11	1320										
RANBP17	64901	broad.mit.edu	37	chr5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	accggattgcctcgatgttgTaatgagaaaatagagcttgc	11	7	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.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		Somatic					p.C541W	NM_022897.3	NP_075048.1	WXS	Illumina GAIIx	Phase_I	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	17	187	---	---	---	---	G	170395294	T	G	170395294	3	3	15	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	12	1321										
GSTA2	2939	broad.mit.edu	37	chr6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	gaatgtcagcccggctcagcTtgttgccaacaaggtagtct	11	11	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.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		Somatic					p.K152M	NM_000846.4	NP_000837.3	WXS	Illumina GAIIx	Phase_I	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	63	146	---	---	---	---	A	52616466	T	A	52616466	3	1	15	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		52616466	118498601	13	1322										
PNLDC1	154197	broad.mit.edu	37	chr6	160237001	160237001	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ctatttttcttttccaatagTgacttgaatcccaccaagaa	4	10	1	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.chr6:160237001T>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																																						ENST00000610273.1																			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.(961-963)agT>agC		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			Somatic				PNLDC1_ENST00000392167.3_Splice_Site_p.S332S	p.S321S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	WXS	Illumina GAIIx	Phase_I	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)						Q5TAP7|Q8N7X5	Splice_Site	SNP	ENST00000610273.1	37	c.963T>C	CCDS5271.1																																																																																				0.378	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	Silent	5	126	5	126	---	---	---	---	C	160237001	T	C	160237001	5	2	15	1	0	0	0	0	0	0	1	0	12148	1710	59	2	1009	2	PNLDC1	6	160237001	Splice_Site	SNP	T	TCGA-CH-5750-01A-11D-1576-08	107620535	160237001	10878066	14	1323										
NFE2L3	9603	broad.mit.edu	37	chr7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	agcgtgctaaagctttgcatAtccctttttctgtagatgaa	8	8	1	2	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		Somatic					p.I547F	NM_004289.6	NP_004280.5	WXS	Illumina GAIIx	Phase_I	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	5	268	---	---	---	---	T	26224957	A	T	26224957	3	4	15	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	15	1324										
HIBADH	11112	broad.mit.edu	37	chr7	27565971	27565971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ctctttgtgctggtagcagaGtcttgtgccaatcccagatc	10	11	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.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			Somatic					p.D291D	NM_152740.3	NP_689953.1	WXS	Illumina GAIIx	Phase_I	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	13	45	---	---	---	---	A	27565971	G	A	27565971	2	1	15	1	0	0	0	0	0	0	0	1	7099	1020	36	2		2	HIBADH	7	27565971	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	1341014	27565971	131572692	16	1325										
ANLN	54443	broad.mit.edu	37	chr7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	gcccacagcagctccaaggtCtatgactcatgctaagcgag	10	13	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.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		Somatic				ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	p.S33C	NM_018685.2	NP_061155.2	WXS	Illumina GAIIx	Phase_I	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	42	77	---	---	---	---	G	36435954	C	G	36435954	3	3	15	1	0	0	0	0	1	0	0	0	694	913	32	4	104	4	ANLN	7	36435954	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8869983	36435954	122702709	17	1326										
PHTF2	57157	broad.mit.edu	37	chr7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	cgtccaaagtcacagatgctAtagtctggtatcaaaagaag	9	8	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.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000416283.2_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		Somatic				PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	WXS	Illumina GAIIx	Phase_I	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	73	125	---	---	---	---	G	77469597	A	G	77469597	3	3	15	1	0	0	0	0	1	0	0	0	11863	449	16	2	27	2	PHTF2	7	77469597	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08	41033643	77469597	81669066	18	1327										
ADAM9	8754	broad.mit.edu	37	chr8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	actttaaataaaggaggaaaCtgccttcttaatattccaaa	5	7	1	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.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		Somatic					p.N400K	NM_003816.2	NP_003807.1	WXS	Illumina GAIIx	Phase_I	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	7	121	---	---	---	---	A	38899534	C	A	38899534	3	1	15	1	0	0	0	0	1	0	0	0	253	564	20	3	1246	3	ADAM9	8	38899534	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08		38899534	107464488	19	1328										
SOX17	64321	broad.mit.edu	37	chr8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tggcggagaagcggcccttcGtggaggaggcagagcggctg	20	9	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.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		Somatic					p.V118M	NM_022454.3	NP_071899.1	WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	A	55371662	G	A	55371662	3	1	15	1	0	0	0	0	1	0	0	0	14947	1145	40	2	358	2	SOX17	8	55371662	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	16472128	55371662	90992360	20	1329										
CSMD3	114788	broad.mit.edu	37	chr8	113657357	113657357	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ccttttccatgggttacatcAacagtccatgtacaattcag	6	11	2	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.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000455883.2_Silent_p.V993V|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000343508.3_Silent_p.V1057V	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)	Somatic				CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V	p.V1097V	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	113657357	A	T	113657357	2	4	15	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	21	1330										
GOLM1	51280	broad.mit.edu	37	chr9	88650293	88650293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tcacacccaccttccccggcAgcttcctgctcctcctcctg	5	22	1	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.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000388711.3_Silent_p.A335A|GOLM1_ENST00000257504.6_5'Flank	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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	5	180	---	---	---	---	G	88650293	A	G	88650293	2	3	15	1	0	0	0	0	0	0	0	1	6567	175	7	2		2	GOLM1	9	88650293	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08		88650293	52563138	22	1331										
KIF12	113220	broad.mit.edu	37	chr9	116858374	116858374	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	atgctgttagcctcaagcatCagctccccacgggatcccgt	9	15	2	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.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			Somatic				KIF12_ENST00000473174.1_Intron	p.L146L	NM_138424.1	NP_612433.1	WXS	Illumina GAIIx	Phase_I	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	33	147	---	---	---	---	A	116858374	C	A	116858374	2	1	15	1	0	0	0	0	0	0	0	1	8273	813	29	3		3	KIF12	9	116858374	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	28208081	116858374	24355057	23	1332										
FAM171A1	221061	broad.mit.edu	37	chr10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	taaatataccttggaatcctGatactatttggacgacatct	6	8	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.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		Somatic					p.S136L	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	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	19	92	---	---	---	---	A	15317865	G	A	15317865	3	1	15	1	0	0	0	0	1	0	0	0	5490	1294	45	2	2289	2	FAM171A1	10	15317865	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		15317865	120216882	24	1333										
NCOA4	8031	broad.mit.edu	37	chr10	51584846	51584846	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	caggaatcccataagctgcgGaagcctgagaatggcagtcg	13	10	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.chr10:51584846G>A	ENST00000443446.1	+	8	1174	c.945G>A	c.(943-945)cgG>cgA	p.R315R	NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000452682.1_Silent_p.R331R|NCOA4_ENST00000414907.2_Silent_p.R149R	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			Somatic				NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000374082.1_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000443446.1_Silent_p.R315R	p.R331R	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	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	6	164	---	---	---	---	A	51584846	G	A	51584846	2	1	15	1	0	0	0	0	0	0	0	1	10231	1161	41	2		2	NCOA4	10	51584846	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	36266981	51584846	83949901	25	1334										
FGD4	121512	broad.mit.edu	37	chr12	32764089	32764089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	aggagaacctaaagaaactcTtagagatttatgaaatgttg	9	4	1	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.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000534526.2_Silent_p.L541L|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			Somatic				FGD4_ENST00000266482.3_Silent_p.L156L|FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000534526.2_Silent_p.L541L	p.L404L	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	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	4	196	---	---	---	---	C	32764089	T	C	32764089	2	2	15	1	0	0	0	0	0	0	0	1	5835	1606	56	2		2	FGD4	12	32764089	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08		32764089	101087806	26	1335										
PIWIL1	9271	broad.mit.edu	37	chr12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	aaaaaatacctgtgtacagaTtgccctaccccaagtcagtg	7	11	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.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		Somatic					p.D578E	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina GAIIx	Phase_I	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	30	76	---	---	---	---	G	130845793	T	G	130845793	3	3	15	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	27	1336										
ABCC4	10257	broad.mit.edu	37	chr13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tcacatcattggacagcagaTtgactatctggcctgtggtt	10	9	3	2	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_ENST00000412704.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000538287.1_3'UTR|snoU13_ENST00000459449.1_RNA	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		Somatic				ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S	p.N196S	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	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	12	86	---	---	---	---	C	95862980	T	C	95862980	3	2	15	1	0	0	0	0	1	0	0	0	55	1493	52	2	3547	2	ABCC4	13	95862980	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08		95862980	19306898	28	1337										
HERC2	8924	broad.mit.edu	37	chr15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-													0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	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)tgtfs		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		Somatic					p.C3865fs	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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	15	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	29	1338										
HERC1	8925	broad.mit.edu	37	chr15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	aatctgtccattctccactaGgcaacactgagctttctccg	6	14	3	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.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		Somatic				RP11-317G6.1_ENST00000559303.2_RNA	p.L2044V	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	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	7	439	---	---	---	---	C	63978653	G	C	63978653	3	2	15	1	0	0	0	0	1	0	0	0	7057	991	35	4	8635	4	HERC1	15	63978653	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	35591163	63978653	38552739	30	1339										
A2BP1	54715	broad.mit.edu	37	chr16	7657342	7657342	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	agtcccgaattctatgcaggTacagagtttctctttgcacg	9	10	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.chr16:7657342T>G	ENST00000550418.1	+	10	1664		c.e10+2		RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000340209.4_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000355637.4_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			Somatic				RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site|RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	31	187	---	---	---	---	G	7657342	T	G	7657342	5	3	15	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	31	1340										
TMC7	79905	broad.mit.edu	37	chr16	19041572	19041572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ctggaggaaactagcctcttTtacggacattacaccattga	8	10	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.chr16:19041572T>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			Somatic				TMC7_ENST00000569532.1_Silent_p.F246F|TMC7_ENST00000304381.5_Silent_p.F246F	p.F136F	NM_001160364.1	NP_001153836.1	WXS	Illumina GAIIx	Phase_I	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	7	283	---	---	---	---	C	19041572	T	C	19041572	2	2	15	1	0	0	0	0	0	0	0	1	15987	1838	64	2		2	TMC7	16	19041572	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08	11384230	19041572	71313181	32	1341										
SRCAP	10847	broad.mit.edu	37	chr16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-													0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	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)ccaggctacfs		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		Somatic				SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	p.PGY1135fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	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	15	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	33	1342										
SLC5A2	6524	broad.mit.edu	37	chr16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	atcgtctcgggctggtactgGtgcagcgaccaggtgcgggt	17	10	1	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.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*		Somatic				AC026471.6_ENST00000565137.1_RNA	p.W291*	NM_003041.3	NP_003032.1	WXS	Illumina GAIIx	Phase_I	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	10	33	---	---	---	---	A	31499068	G	A	31499068	4	1	15	1	0	0	0	0	0	1	0	0	14665	1270	44	2	899	2	SLC5A2	16	31499068	Nonsense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	766408	31499068	58855685	34	1343										
PRPF8	10594	broad.mit.edu	37	chr17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	caccccaccctcttacctccAgtgggtccagcatgcccttc	6	20	1	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.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R			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		Somatic				PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R	p.L1872R			WXS	Illumina GAIIx	Phase_I	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	24	40	---	---	---	---	C	1559946	A	C	1559946	3	2	15	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	35	1344										
XAF1	54739	broad.mit.edu	37	chr17	6673970	6673970	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	tcacaattgcagggtaaatgTtgtccagactcagagtttaa	9	7	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.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			Somatic				XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	p.C172C	NM_017523.3	NP_059993.2	WXS	Illumina GAIIx	Phase_I	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	7	187	---	---	---	---	C	6673970	T	C	6673970	2	2	15	1	0	0	0	0	0	0	0	1	17416	1731	60	2		2	XAF1	17	6673970	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08	5114024	6673970	74521240	36	1345										
GH2	2689	broad.mit.edu	37	chr17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	cactcacagatttctgctgcGttttcaccctgttggaaggt	9	11	3	1	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_ENST00000332800.7_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_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		Somatic				GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000449787.2_Missense_Mutation_p.T78M|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	WXS	Illumina GAIIx	Phase_I	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	82	364	---	---	---	---	A	61958402	G	A	61958402	3	1	15	1	0	0	0	0	1	0	0	0	6368	1145	40	2	724	2	GH2	17	61958402	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	55284432	61958402	19236808	37	1346										
S1PR2	9294	broad.mit.edu	37	chr19	10335297	10335297	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	ggcgtcagcctcagcgtgacAgagccagagagcaaggtatt	14	10	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.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			Somatic					p.S95S	NM_004230.3	NP_004221.3	WXS	Illumina GAIIx	Phase_I	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	9	42	---	---	---	---	T	10335297	A	T	10335297	2	4	15	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	38	1347										
C19orf53	28974	broad.mit.edu	37	chr19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-													0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	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)aaafs		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		Somatic				C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	p.K87fs	NM_014047.2	NP_054766.1	WXS	Illumina GAIIx	Phase_I	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	15	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	39	1348										
LILRA3	11026	broad.mit.edu	37	chr19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	2	1	1.17610062893082	2.35220125786164	0.784067085953878	1	1	0	gagccccaggagatcactggGtagagaccacacatagggag	14	10	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.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	11026							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		Somatic				LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A|LILRA3_ENST00000391744.3_Intron	p.P228A			WXS	Illumina GAIIx	Phase_I				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	4	77	---	---	---	---	C	54803046	G	C	54803046	3	2	15	1	0	0	0	0	1	0	0	0	8786	1261	44	4	704	4	LILRA3	19	54803046	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	40914075	54803046	4325937	40	1349										
TRIM33	51592	broad.mit.edu	37	chr1	115005788	115005788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	aatctatcacatgtttcacaGaaaagtttcaactgttcttg	5	8	5	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.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			Somatic				TRIM33_ENST00000369543.2_Silent_p.F287F|TRIM33_ENST00000450349.2_5'UTR	p.F287F	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	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	5	74	---	---	---	---	A	115005788	G	A	115005788	2	1	16	1	0	0	0	0	0	0	0	1	16504	933	33	2		2	TRIM33	1	115005788	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		115005788	134244833	1	1350										
ITGA10	8515	broad.mit.edu	37	chr1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	taggctgcccaacatacatgGatgttgtcattgtcttggat	10	8	2	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.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		Somatic				ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	p.D167Y	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	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	7	205	---	---	---	---	T	145530284	G	T	145530284	3	4	16	1	0	0	0	0	1	0	0	0	7873	1174	41	3	521	3	ITGA10	1	145530284	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	30524496	145530284	103720337	2	1351										
ETV3	2117	broad.mit.edu	37	chr1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T													0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	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_ENST00000460850.1_5'Flank|ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs	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)tacfs		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		Somatic				ETV3_ENST00000326786.4_Frame_Shift_Ins_p.Y96fs	p.Y96fs	NM_001145312.1	NP_001138784.1	WXS	Illumina GAIIx	Phase_I	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	16	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	3	1352										
TTN	7273	broad.mit.edu	37	chr2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	atatacacgatactcatacaTcagtccttcatcaaggccgg	6	12	4	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.chr2:179426189T>G	ENST00000591111.1	-	276	79971	c.79747A>C	c.(79747-79749)Atg>Ctg	p.M26583L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28224L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L			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		Somatic				TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|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-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.M28224L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	74	149	---	---	---	---	G	179426189	T	G	179426189	3	3	16	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	4	1353										
ZIC1	7545	broad.mit.edu	37	chr3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	acgtgaacatggccgcgcatCacggcgccggcgccttcttc	12	16	2	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.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		Somatic					p.H208N	NM_003412.3	NP_003403.2	WXS	Illumina GAIIx	Phase_I	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	15	64	---	---	---	---	A	147128521	C	A	147128521	3	1	16	1	0	0	0	0	1	0	0	0	17675	826	29	3	624	3	ZIC1	3	147128521	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		147128521	50893909	5	1354										
SOD3	6649	broad.mit.edu	37	chr4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	aggaggtcatgcagcggcggGacgacgacggcgcgctccac	17	13	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.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		Somatic					p.D54N	NM_003102.2	NP_003093.2	WXS	Illumina GAIIx	Phase_I	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	14	8	---	---	---	---	A	24801303	G	A	24801303	3	1	16	1	0	0	0	0	1	0	0	0	14922	1174	41	2	162	2	SOD3	4	24801303	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		24801303	166352973	6	1355										
DHFR	1719	broad.mit.edu	37	chr5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-													0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	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_ENST00000513048.1_5'UTR|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs	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)aatttafs		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		Somatic				DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs	p.NL73fs	NM_000791.3	NP_000782.1	WXS	Illumina GAIIx	Phase_I	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	16	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	7	1356										
SLCO6A1	133482	broad.mit.edu	37	chr5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	aactgtcatccacttctcccGgcttcttggaaactgaggac	8	13	3	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.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	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_ENST00000514551.1_5'UTR|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		Somatic				SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L	p.P78L			WXS	Illumina GAIIx	Phase_I	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	55	242	---	---	---	---	A	101834316	G	A	101834316	3	1	16	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	8	1357										
DCDC2	51473	broad.mit.edu	37	chr6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	ggcttcctggcctccagccaCgtaattgcccccgctctgga	10	17	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.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		Somatic				KAAG1_ENST00000274766.1_5'UTR	p.V87M	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	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	40	105	---	---	---	---	T	24357720	C	T	24357720	3	4	16	1	0	0	0	0	1	0	0	0	4285	536	19	2	1211	2	DCDC2	6	24357720	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		24357720	146757347	9	1358										
KIFC1	3833	broad.mit.edu	37	chr6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	agtgtgttattggtactgctCaggccaacaggaagtgaaga	13	6	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.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*		Somatic					p.Q669*	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	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	39	259	---	---	---	---	T	33377450	C	T	33377450	4	4	16	1	0	0	0	0	0	1	0	0	8312	827	29	2	2047	2	KIFC1	6	33377450	Nonsense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	9019730	33377450	137737617	10	1359										
FBXL4	26235	broad.mit.edu	37	chr6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	tacatgccaattcatcaatgTctgtgtcacacacagatcta	5	11	5	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.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		Somatic				FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A	p.D550A	NM_001278716.1	NP_001265645.1	WXS	Illumina GAIIx	Phase_I	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	46	121	---	---	---	---	G	99323344	T	G	99323344	3	3	16	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	11	1360										
BBS9	27241	broad.mit.edu	37	chr7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	caccttgctctgcgatagatTatccaaaggtggccgtctct	9	12	2	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.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S	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		Somatic				BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S	p.L819S	NM_198428.2	NP_940820.1	WXS	Illumina GAIIx	Phase_I	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	45	86	---	---	---	---	C	33573723	T	C	33573723	3	2	16	1	0	0	0	0	1	0	0	0	1342	1764	61	2	2534	2	BBS9	7	33573723	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08		33573723	125564940	12	1361										
C7orf23	79161	broad.mit.edu	37	chr7	86848787	86848787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	ggtctgttgtccaggccactGgtgccgtaggtcctggtagc	15	11	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.chr7:86848787G>A	ENST00000433078.1	-	2	474	c.33C>T	c.(31-33)acC>acT	p.T11T	TMEM243_ENST00000257637.3_Silent_p.T11T|TMEM243_ENST00000423734.1_Silent_p.T11T|Y_RNA_ENST00000363527.1_RNA|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			Somatic				TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T	p.T11T			WXS	Illumina GAIIx	Phase_I					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	16	68	---	---	---	---	A	86848787	G	A	86848787	2	1	16	1	0	0	0	0	0	0	0	1	2379	1335	47	2		2	C7orf23	7	86848787	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	53275064	86848787	72289876	13	1362										
NOL8	55035	broad.mit.edu	37	chr9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	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_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_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)aacagafs		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		Somatic				NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs	p.NR932fs			WXS	Illumina GAIIx	Phase_I	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	16	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	14	1363										
KIF18A	81930	broad.mit.edu	37	chr11	28058051	28058051	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	cagtcttctggtgtatatacAataggctgaagttctttgct	9	7	3	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.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			Somatic					p.I703I	NM_031217.3	NP_112494.3	WXS	Illumina GAIIx	Phase_I	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	48	191	---	---	---	---	G	28058051	A	G	28058051	2	3	16	1	0	0	0	0	0	0	0	1	8280	126	5	2		2	KIF18A	11	28058051	Silent	SNP	A	TCGA-CH-5751-01A-11D-1576-08		28058051	106948465	15	1364										
CABP4	57010	broad.mit.edu	37	chr11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	agggtctcgaaagcgcactgGcagctctggggagcagacag	16	10	2	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.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	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		Somatic				CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	p.G56D	NM_145200.3	NP_660201.1	WXS	Illumina GAIIx	Phase_I	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	13	9	---	---	---	---	A	67223061	G	A	67223061	3	1	16	1	0	0	0	0	1	0	0	0	2533	1203	42	2	169	2	CABP4	11	67223061	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	39165010	67223061	67783455	16	1365										
FUT8	2530	broad.mit.edu	37	chr14	66208993	66208993	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	cctggagatatcattggtgtGgctggaaatcattgggatgg	15	5	2	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.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000358307.2_Silent_p.V402V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000417683.1_Silent_p.V125V	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			Somatic				FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V	p.V531V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	WXS	Illumina GAIIx	Phase_I	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	20	181	---	---	---	---	C	66208993	G	C	66208993	2	2	16	1	0	0	0	0	0	0	0	1	6110	1335	47	4		4	FUT8	14	66208993	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		66208993	41140547	17	1366										
AKAP8L	26993	broad.mit.edu	37	chr19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	caggtcgcgctcactcaggaCggccctcgagtcgcaggact	13	15	2	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																																						ENST00000397410.5																			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		Somatic				AKAP8L_ENST00000595465.2_Missense_Mutation_p.V72I	p.V133I	NM_014371.2	NP_055186.2	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			5	527	-								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	5	23	---	---	---	---	T	15512380	C	T	15512380	3	4	16	1	0	0	0	0	1	0	0	0	458	536	19	2	1583	2	AKAP8L	19	15512380	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		15512380	43616603	18	1367										
CYP4F2	8529	broad.mit.edu	37	chr19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.51063829787234	0	1.67848699763593	0.4	1	0	ggaaggcaggcgtcagcatcCgacggtggcggctccacttg	16	12	1	0	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																																						ENST00000221700.6																			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		Somatic				CYP4F2_ENST00000011989.7_5'UTR	p.R149Q	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			5	541	-									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	27	131	---	---	---	---	T	16003198	C	T	16003198	3	4	16	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	19	1368										
GBP2	2634	broad.mit.edu	37	chr1	89587611	89587611	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	tgccctttagtgttatcaatGaggctcattgggcccggcaa	11	10	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.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			Somatic					p.L13L	NM_004120.3	NP_004111.2	WXS	Illumina GAIIx	Phase_I	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	5	252	---	---	---	---	C	89587611	G	C	89587611	2	2	17	1	0	0	0	0	0	0	0	1	6274	1277	45	4		4	GBP2	1	89587611	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		89587611	159663010	1	1369										
ASH1L	55870	broad.mit.edu	37	chr1	155449745	155449745	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	attaattgtccattgtttctCttggtaatttttttatctgg	6	5	2	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.chr1:155449745C>A	ENST00000368346.3	-	3	3555	c.2916G>T	c.(2914-2916)aaG>aaT	p.K972N	ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	972			K -> R. {ECO:0000269|PubMed:23033978}.		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.K972N(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)			CATTGTTTCTCTTGGTAATTT	0.343																																						ENST00000368346.3																			1	Substitution - Missense(1)	p.K972N(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.(2914-2916)aaG>aaT		ash1 (absent, small, or homeotic)-like (Drosophila)							74	75	75					1																	155449745		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.chr1:155449745C>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.2916G>T	1.37:g.155449745C>A	ENSP00000357330:p.Lys972Asn		Somatic				ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N	p.K972N			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3555	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		972					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2916G>T		.	.	.	.	.	.	.	.	.	.	C	8.728	0.915986	0.17907	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90069	-2.61;-2.6	5.16	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	N	0.17082	0.46	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.003;0.007	T	0.66256	-0.5969	10	0.37606	T	0.19	.	8.5119	0.33222	0.1517:0.7706:0.0:0.0777	.	972;972	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	972	ENSP00000357330:K972N;ENSP00000376204:K972N	ENSP00000357330:K972N	K	-	3	2	ASH1L	153716369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.800000	0.38833	1.426000	0.47256	0.650000	0.86243	AAG		0.343	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		4	240	4	240	---	---	---	---	A	155449745	C	A	155449745	3	1	17	1	0	0	0	0	1	0	0	0	1041	912	32	3	6082	3	ASH1L	1	155449745	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	65862134	155449745	93800876	2	1370										
SPTA1	6708	broad.mit.edu	37	chr1	158612201	158612201	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	aaactcatcctgagctttacCttcatggcctcttcattgcc	5	14	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.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																																						ENST00000368147.4																			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.(4735-4737)aaG>aaA		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			Somatic					p.K1579K	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			33	4917	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.4737G>A	CCDS41423.1																																																																																				0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Silent	9	269	9	269	---	---	---	---	T	158612201	C	T	158612201	5	4	17	1	0	0	0	0	0	0	1	0	15115	695	24	2	2602	2	SPTA1	1	158612201	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	3162456	158612201	90638420	3	1371										
ARID4B	51742	broad.mit.edu	37	chr1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	agcaacactatccacctcaaTtgtgctatcagtttcactct	4	13	4	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.chr1:235345029T>C	ENST00000264183.3	-	20	3702	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V|ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V	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		Somatic				ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V	p.I1069V	NM_016374.5	NP_057458.4	WXS	Illumina GAIIx	Phase_I	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	32	54	---	---	---	---	C	235345029	T	C	235345029	3	2	17	1	0	0	0	0	1	0	0	0	920	1493	52	2	753	2	ARID4B	1	235345029	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	76732828	235345029	13905592	4	1372										
SFRS7	6432	broad.mit.edu	37	chr2	38976716	38976716	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gatgacaatcataagcataaTgtcccttttcgccacactca	5	12	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.chr2:38976716T>A	ENST00000313117.6	-	3	578	c.341A>T	c.(340-342)cAt>cTt	p.H114L	SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L|SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|GEMIN6_ENST00000409011.1_5'Flank	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		Somatic				SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L	p.H114L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	WXS	Illumina GAIIx	Phase_I	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	27	279	---	---	---	---	A	38976716	T	A	38976716	3	1	17	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	5	1373										
CCDC85A	114800	broad.mit.edu	37	chr2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	agcagcctgaacctgtggtaCattctcttaaggtaaccaat	8	10	1	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.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		Somatic				RP11-482H16.1_ENST00000607540.1_RNA	p.H521N	NM_001080433.1	NP_001073902.1	WXS	Illumina GAIIx	Phase_I	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	32	60	---	---	---	---	A	56603059	C	A	56603059	3	1	17	1	0	0	0	0	1	0	0	0	2859	478	17	3	1579	3	CCDC85A	2	56603059	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	17626343	56603059	186596314	6	1374										
CCDC115	84317	broad.mit.edu	37	chr2	131096732	131096732	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	agctgcttgagtttctcttgGagtccccggagctggcttcg	13	11	1	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.chr2:131096732G>C	ENST00000259229.2	-	5	727	c.504C>G	c.(502-504)ctC>ctG	p.L168L	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Silent_p.L163L	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			Somatic				CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR	p.L168L	NM_032357.2	NP_115733.2	WXS	Illumina GAIIx	Phase_I	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	7	62	---	---	---	---	C	131096732	G	C	131096732	2	2	17	1	0	0	0	0	0	0	0	1	2752	1161	41	4		4	CCDC115	2	131096732	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	74493673	131096732	112102641	7	1375										
TLK1	9874	broad.mit.edu	37	chr2	171862701	171862701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gttagatccattccatctacAccatagctatcatcatccat	3	13	3	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.chr2:171862701A>G	ENST00000431350.2	-	18	2264	c.1860T>C	c.(1858-1860)ggT>ggC	p.G620G	TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000442919.2_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			Somatic				TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000431350.2_Silent_p.G620G	p.G572G	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	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	15	213	---	---	---	---	G	171862701	A	G	171862701	2	3	17	1	0	0	0	0	0	0	0	1	15940	146	6	2		2	TLK1	2	171862701	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	40765969	171862701	71336672	8	1376										
TTLL3	26140	broad.mit.edu	37	chr3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	acgccagccccacgatggcaCcctccacagcagtcactgcc	8	20	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.chr3:9870957C>A	ENST00000547186.1	+	10	1648	c.1432C>A	c.(1432-1434)Ccc>Acc	p.P478T	TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|TTLL3_ENST00000383827.1_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000397241.1_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		Somatic				TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR	p.P266T			WXS	Illumina GAIIx	Phase_I	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	59	91	---	---	---	---	A	9870957	C	A	9870957	3	1	17	1	0	0	0	0	1	0	0	0	16725	507	18	3	1466	3	TTLL3	3	9870957	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		9870957	188151473	9	1377										
CTNNB1	1499	broad.mit.edu	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	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_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|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		Somatic				CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P	p.S45P	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	5	105	---	---	---	---	C	41266136	T	C	41266136	3	2	17	1	0	0	0	0	1	0	0	0	4016	1783	62	2	139	2	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	31395179	41266136	156756294	10	1378										
ZNF167	55888	broad.mit.edu	37	chr3	44612332	44612332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gagcctccatactggggaaaAgccatacaaatgtagtgaat	10	8	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.chr3:44612332A>G	ENST00000273320.3	+	6	2159	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_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		Somatic				ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA	p.K577R	NM_018651.2	NP_061121.2	WXS	Illumina GAIIx	Phase_I					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	3	254	---	---	---	---	G	44612332	A	G	44612332	3	3	17	1	0	0	0	0	1	0	0	0	17738	72	3	2	1748	2	ZNF167	3	44612332	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	3346196	44612332	153410098	11	1379										
SACM1L	22908	broad.mit.edu	37	chr3	45761023	45761023	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	cattcatgttctattaatggAaaatactttgattggattct	6	5	3	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.chr3:45761023A>G	ENST00000389061.5	+	8	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_ENST00000418611.1_Silent_p.G100G|SACM1L_ENST00000541314.1_Silent_p.G142G	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			Somatic				SACM1L_ENST00000418611.1_Silent_p.G100G|SACM1L_ENST00000541314.1_Silent_p.G142G	p.G203G	NM_014016.3	NP_054735.3	WXS	Illumina GAIIx	Phase_I	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	6	77	---	---	---	---	G	45761023	A	G	45761023	2	3	17	1	0	0	0	0	0	0	0	1	13803	233	9	2		2	SACM1L	3	45761023	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	1148691	45761023	152261407	12	1380										
ATP6V1A	523	broad.mit.edu	37	chr3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gctcacaatggaggttgatgGtaaggtagagtcaattatga	13	4	2	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.chr3:113508598G>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		Somatic				ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	p.G300V	NM_001690.3	NP_001681.2	WXS	Illumina GAIIx	Phase_I	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	51	103	---	---	---	---	T	113508598	G	T	113508598	3	4	17	1	0	0	0	0	1	0	0	0	1177	1261	44	3	925	3	ATP6V1A	3	113508598	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	67747575	113508598	84513832	13	1381										
COL6A5	256076	broad.mit.edu	37	chr3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	tacagtaaaaacagagtttgAtttcatcacttatgacaacc	5	8	2	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.chr3:130159274A>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		Somatic				COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V	p.D2031V			WXS	Illumina GAIIx	Phase_I	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	45	100	---	---	---	---	T	130159274	A	T	130159274	3	4	17	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	14	1382										
TBL1XR1	79718	broad.mit.edu	37	chr3	176755961	176755961	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ttgatagcatttacttcattCtaaaaataatagtaaatatt	3	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.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			Somatic				TBL1XR1_ENST00000457928.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	4	57	---	---	---	---	G	176755961	C	G	176755961	5	3	17	1	0	0	0	0	0	0	1	0	15637	927	32	4	517	4	TBL1XR1	3	176755961	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	46596687	176755961	21266469	15	1383										
EHHADH	1962	broad.mit.edu	37	chr3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gatgggtttttctataccgtGataggaatttggaaagccag	12	5	1	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.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		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	p.S601L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	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	34	227	---	---	---	---	A	184910384	G	A	184910384	3	1	17	1	0	0	0	0	1	0	0	0	4982	1294	45	2	373	2	EHHADH	3	184910384	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	8154423	184910384	13112046	16	1384										
USP38	84640	broad.mit.edu	37	chr4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	cgcacctcggatattctttgAggcttccagacctccatggt	9	13	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.chr4:144133502A>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		Somatic				USP38_ENST00000510377.1_Missense_Mutation_p.E510G	p.E510G	NM_032557.5	NP_115946.2	WXS	Illumina GAIIx	Phase_I	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	3	232	---	---	---	---	G	144133502	A	G	144133502	3	3	17	1	0	0	0	0	1	0	0	0	17066	304	11	2	1559	2	USP38	4	144133502	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08		144133502	47020774	17	1385										
TAS2R1	50834	broad.mit.edu	37	chr5	9629679	9629679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ttgggagaaaaatttccttaGgaagtatgggaccataaacc	10	6	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.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			Somatic				CTD-2001E22.1_ENST00000504182.2_RNA	p.L156L	NM_019599.2	NP_062545.1	WXS	Illumina GAIIx	Phase_I	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	8	151	---	---	---	---	A	9629679	G	A	9629679	2	1	17	1	0	0	0	0	0	0	0	1	15562	991	35	2		2	TAS2R1	5	9629679	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		9629679	171285581	18	1386										
CROT	54677	broad.mit.edu	37	chr7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ctctttggcataacttgaacTactggcagctattaagaaag	8	8	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.chr7:86990868T>A	ENST00000331536.3	+	5	588	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	CROT_ENST00000419147.2_Missense_Mutation_p.Y163N|CROT_ENST00000442291.1_Missense_Mutation_p.Y135N	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		Somatic				CROT_ENST00000419147.2_Missense_Mutation_p.Y163N|CROT_ENST00000442291.1_Missense_Mutation_p.Y135N	p.Y135N	NM_021151.3	NP_066974.2	WXS	Illumina GAIIx	Phase_I	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	6	178	---	---	---	---	A	86990868	T	A	86990868	3	1	17	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	19	1387										
ABCB4	5244	broad.mit.edu	37	chr7	87082328	87082328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	cctatttcctgtcgtagaatAgcatgaaaaaacttctgcct	6	10	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.chr7:87082328A>G	ENST00000265723.4	-	6	579	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_ENST00000359206.3_Silent_p.A156A|ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_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			Somatic				ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000359206.3_Silent_p.A156A	p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	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	3	189	---	---	---	---	G	87082328	A	G	87082328	2	3	17	1	0	0	0	0	0	0	0	1	43	407	15	2		2	ABCB4	7	87082328	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	91460	87082328	72056335	20	1388										
GALNT11	63917	broad.mit.edu	37	chr7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gaagacgaaaagctatggcaAtatcagtgagcgtgtggaac	13	6	1	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_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S|GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|RP5-981O7.2_ENST00000424630.1_RNA			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		Somatic				GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S	p.N428S			WXS	Illumina GAIIx	Phase_I	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	104	238	---	---	---	---	G	151814291	A	G	151814291	3	3	17	1	0	0	0	0	1	0	0	0	6209	101	4	2	1313	2	GALNT11	7	151814291	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	64731963	151814291	7324372	21	1389										
MLL3	58508	broad.mit.edu	37	chr7	151845758	151845758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	tccaagtcaaggttgagtagCcttgctggtccatctgtcaa	10	10	3	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.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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.R4418S	p.R4475S			WXS	Illumina GAIIx	Phase_I					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	5	172	---	---	---	---	A	151845758	C	A	151845758	3	1	17	1	0	0	0	0	1	0	0	0	9622	738	26	3	1513	3	MLL3	7	151845758	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	31467	151845758	7292905	22	1390										
MLL3	58508	broad.mit.edu	37	chr7	151853293	151853293	+	Frame_Shift_Del	DEL	C	C	-													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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_ENST00000355193.2_Frame_Shift_Del_p.E3994fs|KMT2C_ENST00000485241.1_5'Flank	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)gaafs		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		Somatic				KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E3937fs	p.E3994fs			WXS	Illumina GAIIx	Phase_I					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	17	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	23	1391										
MLL3	58508	broad.mit.edu	37	chr7	151859486	151859487	+	Frame_Shift_Ins	INS	-	-	TT													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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)acagagfs		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		Somatic				KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E3726fs	p.E3726fs			WXS	Illumina GAIIx	Phase_I					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	17	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	24	1392										
DSCC1	79075	broad.mit.edu	37	chr8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	CACCAG	-													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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)ctggtgdel		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		Somatic					p.LV312del	NM_024094.2	NP_076999.2	WXS	Illumina GAIIx	Phase_I	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	17	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		120850633	25513389	25	1393										
CYC1	1537	broad.mit.edu	37	chr8	145151373	145151373	+	Frame_Shift_Del	DEL	A	A	-													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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)gacfs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	17	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	26	1394										
TRPM6	140803	broad.mit.edu	37	chr9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	attccaactgtccagattttTctcaaggaatgagaggaatg	9	7	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.chr9:77448983T>G	ENST00000360774.1	-	6	837	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000451710.3_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_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		Somatic				TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S	p.R200S			WXS	Illumina GAIIx	Phase_I	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	12	186	---	---	---	---	G	77448983	T	G	77448983	3	3	17	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		77448983	63764448	27	1395										
C9orf84	158401	broad.mit.edu	37	chr9	114489999	114490000	+	Frame_Shift_Ins	INS	-	-	CCAAA													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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_ENST00000394779.3_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs|C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs	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)gacfs		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		Somatic				C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.D519fs	p.D480fs	NM_001080551.1	NP_001074020.1	WXS	Illumina GAIIx	Phase_I	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	17	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	28	1396										
CUBN	8029	broad.mit.edu	37	chr10	17032435	17032435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gtcctaatgtaccagatacaCtccttgtttggtggatacct	8	10	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.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			Somatic					p.E1416E	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	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	13	147	---	---	---	---	T	17032435	C	T	17032435	2	4	17	1	0	0	0	0	0	0	0	1	4051	564	20	2		2	CUBN	10	17032435	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		17032435	118502312	29	1397										
ZNF518A	9849	broad.mit.edu	37	chr10	97916435	97916435	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gtctgcaaaaatactcaattTcagctgtttaaaatgccgag	7	8	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	13	277	---	---	---	---	G	97916435	T	G	97916435	1	3	17	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	80884000	97916435	37618312	30	1398										
DAK	26007	broad.mit.edu	37	chr11	61111398	61111398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	actgggcggaagcggagccgGgtagcccctgccgagcccca	16	15	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.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			Somatic					p.R351R	NM_015533.3	NP_056348.2	WXS	Illumina GAIIx	Phase_I	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	6	85	---	---	---	---	A	61111398	G	A	61111398	2	1	17	1	0	0	0	0	0	0	0	1	4228	1219	43	2		2	DAK	11	61111398	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		61111398	73895118	31	1399										
FAT3	120114	broad.mit.edu	37	chr11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ggggcaccccagctctcagcGctgtggccactgtcaacatc	11	16	2	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_ENST00000525166.1_Missense_Mutation_p.A3173T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T			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)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T	p.A3323T			WXS	Illumina GAIIx	Phase_I	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	17	17	---	---	---	---	A	92568131	G	A	92568131	3	1	17	1	0	0	0	0	1	0	0	0	5691	1087	38	2	10021	2	FAT3	11	92568131	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	31456733	92568131	42438385	32	1400										
CDKN1B	1027	broad.mit.edu	37	chr12	12870803	12870803	+	Frame_Shift_Del	DEL	C	C	-													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs	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)agcfs		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		Somatic				CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs	p.S10fs	NM_004064.3	NP_004055.1	WXS	Illumina GAIIx	Phase_I	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	17	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	33	1401										
ARID2	196528	broad.mit.edu	37	chr12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	GTGGTACT	-													0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	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_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs	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)agtggtactfs		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		Somatic				ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000479608.1_3'UTR	p.SGT1443fs	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	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	17	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	34	1402										
C12orf26	84190	broad.mit.edu	37	chr12	82792603	82792603	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ttgggttccggtaaaggctaCctaagctcttttttgtcctt	9	9	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.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*		Somatic				METTL25_ENST00000547357.1_3'UTR	p.Y187*	NM_032230.2	NP_115606.2	WXS	Illumina GAIIx	Phase_I					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	6	103	---	---	---	---	A	82792603	C	A	82792603	4	1	17	1	0	0	0	0	0	1	0	0	1679	518	18	3	575	3	C12orf26	12	82792603	Nonsense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	36546369	82792603	51059292	35	1403										
LHX5	64211	broad.mit.edu	37	chr12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gaacacatttgatgtgccacGcgcggtccagcacgttcagc	11	13	1	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.chr12:113909233G>A	ENST00000261731.3	-	1	644	c.71C>T	c.(70-72)gCg>gTg	p.A24V	RP11-82C23.2_ENST00000551357.2_RNA|LHX5_ENST00000557836.1_5'Flank	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		Somatic					p.A24V	NM_022363.2	NP_071758.1	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	A	113909233	G	A	113909233	3	1	17	1	0	0	0	0	1	0	0	0	8774	1087	38	2	1157	2	LHX5	12	113909233	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	31116630	113909233	19942662	36	1404										
SCARB1	949	broad.mit.edu	37	chr12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	cctgctgcttgatgagcgacGgcaccatcacgatcatgaca	10	13	2	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.chr12:125348169G>C	ENST00000415380.2	-	1	223	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000339570.5_Missense_Mutation_p.P33R|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R			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		Somatic				SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R	p.P33R	NM_001082959.1	NP_001076428.1	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	C	125348169	G	C	125348169	3	2	17	1	0	0	0	0	1	0	0	0	13881	1116	39	4	1603	4	SCARB1	12	125348169	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	11438936	125348169	8503726	37	1405										
USP12	219333	broad.mit.edu	37	chr13	27649444	27649444	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	actacccggtaagagagtttTgtatatcgatgaagttgatc	10	6	0	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.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			Somatic					p.T272T	NM_182488.3	NP_872294.2	WXS	Illumina GAIIx	Phase_I	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	42	61	---	---	---	---	A	27649444	T	A	27649444	2	1	17	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		27649444	87520434	38	1406										
C14orf135	64430	broad.mit.edu	37	chr14	60591549	60591549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	attaggataccctgctgttgAcaaaggaaaacaagaggaca	10	7	0	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.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_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G			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		Somatic				PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G	p.D887G			WXS	Illumina GAIIx	Phase_I					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	13	384	---	---	---	---	G	60591549	A	G	60591549	3	3	17	1	0	0	0	0	1	0	0	0	1745	275	10	2	1984	2	C14orf135	14	60591549	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08		60591549	46757991	39	1407										
VIPAR	63894	broad.mit.edu	37	chr14	77896064	77896064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	tgtgcaaaatttcgacaaccCgatggaagccaatgggtgct	11	9	0	0	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_ENST00000556412.1_Missense_Mutation_p.R435Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q	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		Somatic				VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q	p.R409Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	WXS	Illumina GAIIx	Phase_I					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	25	414	---	---	---	---	T	77896064	C	T	77896064	3	4	17	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	40	1408										
TJP1	7082	broad.mit.edu	37	chr15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	aagtgtatactgtacactggCtagctgctcagctctacaca	8	11	2	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.chr15:30025006C>A	ENST00000346128.6	-	14	2224	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S|TJP1_ENST00000356107.6_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		Somatic				TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S|TJP1_ENST00000356107.6_Missense_Mutation_p.A584S	p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	WXS	Illumina GAIIx	Phase_I	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	40	45	---	---	---	---	A	30025006	C	A	30025006	3	1	17	1	0	0	0	0	1	0	0	0	15926	797	28	3	3556	3	TJP1	15	30025006	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		30025006	72506386	41	1409										
ARHGAP11B	89839	broad.mit.edu	37	chr15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gcttgcacatctttagaagaAcatattcataccgaagggct	8	9	2	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.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		Somatic					p.E78D	NM_001039841.1	NP_001034930.1	WXS	Illumina GAIIx	Phase_I	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	4	186	---	---	---	---	C	30925726	A	C	30925726	3	2	17	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	42	1410										
AFG3L2	10939	broad.mit.edu	37	chr18	12358924	12358924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	atgatgagcaccgtaggcagCatgctcagcagaaaagagct	12	9	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.chr18:12358924C>A	ENST00000269143.3	-	8	1002	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	257					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.M257I(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)	CCGTAGGCAGCATGCTCAGCA	0.552																																						ENST00000269143.3																			1	Substitution - Missense(1)	p.M257I(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.(769-771)atG>atT		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						36	34	35					18																	12358924		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.chr18:12358924C>A	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.771G>T	18.37:g.12358924C>A	ENSP00000269143:p.Met257Ile		Somatic					p.M257I	NM_006796.2	NP_006787.2	WXS	Illumina GAIIx	Phase_I	Q9Y4W6	AFG32_HUMAN			8	1002	-			257					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.771G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649138	0.29336	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.92249	-3.0	5.45	5.45	0.79879	Peptidase M41, FtsH (2);	0.177551	0.64402	D	0.000004	D	0.83399	0.5246	N	0.04387	-0.21	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77332	-0.2627	10	0.24483	T	0.36	-0.5834	19.2802	0.94050	0.0:1.0:0.0:0.0	.	257	Q9Y4W6	AFG32_HUMAN	I	257;272	ENSP00000269143:M257I	ENSP00000269143:M257I	M	-	3	0	AFG3L2	12348924	1.000000	0.71417	0.991000	0.47740	0.130000	0.20726	7.448000	0.80631	2.547000	0.85894	0.563000	0.77884	ATG		0.552	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		3	33	3	33	---	---	---	---	A	12358924	C	A	12358924	3	1	17	1	0	0	0	0	1	0	0	0	360	710	25	3	1662	3	AFG3L2	18	12358924	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		12358924	65718324	43	1411										
MED16	10025	broad.mit.edu	37	chr19	881676	881676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	cagatcgttggtggccgataGgatccgccatttgagaattg	13	8	0	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.chr19:881676G>T	ENST00000589119.1	-	6	1023	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000312090.6_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_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		Somatic				MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I	p.L342I			WXS	Illumina GAIIx	Phase_I	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	4	136	---	---	---	---	T	881676	G	T	881676	3	4	17	1	0	0	0	0	1	0	0	0	9434	991	35	1	1649	1	MED16	19	881676	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08		881676	58247307	44	1412										
RYR1	6261	broad.mit.edu	37	chr19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ccgctggaggccctgcgggaCaaggcactgaggatgctggg	18	11	0	1	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_ENST00000355481.4_Missense_Mutation_p.D1809E|RYR1_ENST00000360985.3_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	43	57	---	---	---	---	A	38976722	C	A	38976722	3	1	17	1	0	0	0	0	1	0	0	0	13768	477	17	3	5561	3	RYR1	19	38976722	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	38095046	38976722	20152261	45	1413										
A1BG	1	broad.mit.edu	37	chr19	58863782	58863782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	tcctcctgggcctcaggcacCtccagaaactcatggtcgcc	9	17	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.chr19:58863782C>T	ENST00000263100.3	-	4	541	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_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			Somatic				A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.E160E	NM_130786.3	NP_570602.2	WXS	Illumina GAIIx	Phase_I	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	12	207	---	---	---	---	T	58863782	C	T	58863782	2	4	17	1	0	0	0	0	0	0	0	1	1	680	24	2		2	A1BG	19	58863782	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	19887060	58863782	265201	46	1414										
PHF20	51230	broad.mit.edu	37	chr20	34389529	34389529	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	gggaccgtttaaaaaactggTacttttacatttttctgtta	7	6	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.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			Somatic				PHF20_ENST00000481202.1_Splice_Site|PHF20_ENST00000439301.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	G	34389529	T	G	34389529	5	3	17	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	47	1415										
C20orf111	51526	broad.mit.edu	37	chr20	42826279	42826279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	actgctggaagaagacgctaTtgtactgcaatgtataaact	9	7	0	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.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		Somatic				OSER1_ENST00000255174.2_Missense_Mutation_p.I98V	p.I98V			WXS	Illumina GAIIx	Phase_I					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	21	159	---	---	---	---	C	42826279	T	C	42826279	3	2	17	1	0	0	0	0	1	0	0	0	2080	1493	52	2	590	2	C20orf111	20	42826279	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	8436750	42826279	20199241	48	1416										
APOBEC3D	140564	broad.mit.edu	37	chr22	39421246	39421246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0612244897959184	3	1	1.54054054054054	3.59459459459459	0.718918918918919	1	1	0	ctgagcaccccaatgtcaccCtgaccatctctgccgcccgc	7	20	2	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.chr22:39421246C>T	ENST00000216099.8	+	3	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.L128L	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																																						ENST00000216099.8																			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			Somatic				APOBEC3D_ENST00000381568.4_Silent_p.L128L|APOBEC3D_ENST00000427494.2_Intron	p.L128L	NM_152426.3	NP_689639.2	WXS	Illumina GAIIx	Phase_I	Q96AK3	ABC3D_HUMAN			3	789	+	Melanoma(58;0.04)							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	7	103	---	---	---	---	T	39421246	C	T	39421246	2	4	17	1	0	0	0	0	0	0	0	1	792	680	24	2		2	APOBEC3D	22	39421246	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		39421246	11883320	49	1417										
AGL	178	broad.mit.edu	37	chr1	100327247	100327247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	atctgcaacaatctggttcaTttcagtattatttccttcaa	4	9	5	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.chr1:100327247T>C	ENST00000294724.4	+	3	749	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L	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		Somatic				AGL_ENST00000361302.3_Missense_Mutation_p.F75L|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	p.F91L	NM_000028.2	NP_000019.2	WXS	Illumina GAIIx	Phase_I	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	37	108	---	---	---	---	C	100327247	T	C	100327247	3	2	18	1	0	0	0	0	1	0	0	0	384	1493	52	2	346	2	AGL	1	100327247	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08		100327247	148923374	1	1418										
NHLH2	4808	broad.mit.edu	37	chr1	116380707	116380707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	atttgcggagctcggcgaagGccaagttgaaggcttccacg	14	10	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.chr1:116380707G>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		Somatic				NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D	p.A96D			WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	T	116380707	G	T	116380707	3	4	18	1	0	0	0	0	1	0	0	0	10404	1203	42	3	124	3	NHLH2	1	116380707	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	16053460	116380707	132869914	2	1419										
TDRKH	11022	broad.mit.edu	37	chr1	151751596	151751596	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	tgccttggctgctgccacttCcttctgtgttcctgagattt	9	12	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.chr1:151751596C>G	ENST00000368822.1	-	5	1177	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|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		Somatic				TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q|TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q	p.E182Q			WXS	Illumina GAIIx	Phase_I	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	98	293	---	---	---	---	G	151751596	C	G	151751596	3	3	18	1	0	0	0	0	1	0	0	0	15734	864	30	4	1177	4	TDRKH	1	151751596	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	35370889	151751596	97499025	3	1420										
BCAN	63827	broad.mit.edu	37	chr1	156616762	156616762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ttcctgtcccggggccgggaGgcagaggtgctggtggcgcg	20	11	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	BCAN_ENST00000361588.5_Missense_Mutation_p.E87D|RP11-284F21.7_ENST00000448869.1_RNA|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																																						ENST00000329117.5																			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		Somatic				RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D	p.E87D	NM_021948.4	NP_068767.3	WXS	Illumina GAIIx	Phase_I	Q96GW7	PGCB_HUMAN			3	597	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					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	4	60	---	---	---	---	T	156616762	G	T	156616762	3	4	18	1	0	0	0	0	1	0	0	0	1345	991	35	1	267	1	BCAN	1	156616762	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	4865166	156616762	92633859	4	1421										
FAM163A	148753	broad.mit.edu	37	chr1	179782917	179782917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	tctgcccttccgcacagtatTactgctgcaagaagagcgga	10	12	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.chr1:179782917T>C	ENST00000341785.4	+	5	493	c.97T>C	c.(97-99)Tac>Cac	p.Y33H	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_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		Somatic					p.Y33H	NM_173509.2	NP_775780.1	WXS	Illumina GAIIx	Phase_I	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	8	59	---	---	---	---	C	179782917	T	C	179782917	3	2	18	1	0	0	0	0	1	0	0	0	5476	1754	61	2	103	2	FAM163A	1	179782917	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	23166155	179782917	69467704	5	1422										
LRP1B	53353	broad.mit.edu	37	chr2	141473656	141473656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ttaagttgaaaccatgatctGtccaatatatgttacctagg	7	7	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.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)	Somatic					p.T1970K	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	22	344	---	---	---	---	T	141473656	G	T	141473656	3	4	18	1	0	0	0	0	1	0	0	0	8955	1377	48	3	8110	3	LRP1B	2	141473656	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		141473656	101725717	6	1423										
TTN	7273	broad.mit.edu	37	chr2	179498718	179498718	+	Frame_Shift_Del	DEL	T	T	-													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.M14170fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA			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)atgfs		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		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA	p.M14170fs	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	18	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	38025062	179498718	63700655	7	1424										
THAP9	79725	broad.mit.edu	37	chr4	83838140	83838141	+	Frame_Shift_Ins	INS	-	-	T													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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)attfs		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		Somatic				LIN54_ENST00000505905.1_Intron	p.I259fs	NM_024672.4	NP_078948.3	WXS	Illumina GAIIx	Phase_I	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	18	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	8	1425										
PLK4	10733	broad.mit.edu	37	chr4	128814966	128814966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	aaattacccaacgagagagaGagcatctttcaacagaatgg	9	8	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.chr4:128814966G>A	ENST00000270861.5	+	13	2766	c.2492G>A	c.(2491-2493)aGa>aAa	p.R831K	RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000513090.1_Missense_Mutation_p.R799K	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	10733				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		Somatic				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	p.R831K	NM_014264.4	NP_055079.3	WXS	Illumina GAIIx	Phase_I	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	9	306	---	---	---	---	A	128814966	G	A	128814966	3	1	18	1	0	0	0	0	1	0	0	0	12098	942	33	2	2542	2	PLK4	4	128814966	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	44976826	128814966	62339310	9	1426										
TLL1	7092	broad.mit.edu	37	chr4	166986834	166986834	+	Splice_Site	DEL	G	G	-													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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			Somatic				TLL1_ENST00000507499.1_Splice_Site		NM_012464.4	NP_036596.3	WXS	Illumina GAIIx	Phase_I	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	18	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	10	1427										
F11	2160	broad.mit.edu	37	chr4	187197050	187197050	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	cctgtgcactttctaatctgGgtaattatcgacttcttgat	7	9	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.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.(439-441)Gct>Tct		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			Somatic				F11_ENST00000403665.2_Splice_Site_p.A199S	p.A147S			WXS	Illumina GAIIx	Phase_I	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.439G>T	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	18	40	---	---	---	---	T	187197050	G	T	187197050	5	4	18	1	0	0	0	0	0	0	1	0	5337	1246	43	1	613	1	F11	4	187197050	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	20210216	187197050	3957226	11	1428										
FBXO4	26272	broad.mit.edu	37	chr5	41927295	41927296	+	Frame_Shift_Del	DEL	TT	TT	-													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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_ENST00000509134.1_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000296812.2_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)ttafs		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		Somatic				FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs	p.L124fs	NM_033484.2	NP_277019.1	WXS	Illumina GAIIx	Phase_I	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	18	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	12	1429										
SKIV2L2	23517	broad.mit.edu	37	chr5	54603876	54603876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	cggagatgagctgttcagcgTgttcgagggcgactcgacca	15	10	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.chr5:54603876T>A	ENST00000230640.5	+	1	289	c.35T>A	c.(34-36)gTg>gAg	p.V12E	SKIV2L2_ENST00000504388.1_3'UTR|DHX29_ENST00000251636.5_5'Flank|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		Somatic				SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	p.V12E	NM_015360.4	NP_056175.3	WXS	Illumina GAIIx	Phase_I	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	23	110	---	---	---	---	A	54603876	T	A	54603876	3	1	18	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	13	1430										
NR2F1	7025	broad.mit.edu	37	chr5	92923847	92923847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ccgcgcgcctgctcttcagcGccgtcgagtgggcccgcaac	13	18	2	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.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		Somatic					p.A230T	NM_005654.4	NP_005645.1	WXS	Illumina GAIIx	Phase_I	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	14	105	---	---	---	---	A	92923847	G	A	92923847	3	1	18	1	0	0	0	0	1	0	0	0	10627	1087	38	2	694	2	NR2F1	5	92923847	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	38319971	92923847	87991413	14	1431										
SRFBP1	153443	broad.mit.edu	37	chr5	121356088	121356088	+	Frame_Shift_Del	DEL	A	A	-													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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)aagfs		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		Somatic					p.K220fs	NM_152546.2	NP_689759.2	WXS	Illumina GAIIx	Phase_I	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	18	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	15	1432										
FAM135A	57579	broad.mit.edu	37	chr6	71232237	71232237	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	tacgcagattttctgaggcaTtcttttgttttgagcatcca	8	8	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.chr6:71232237T>G	ENST00000418814.2	+	13	1665	c.1051T>G	c.(1051-1053)Ttc>Gtc	p.F351V	FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_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		Somatic				FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V	p.F351V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	WXS	Illumina GAIIx	Phase_I	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	72	192	---	---	---	---	G	71232237	T	G	71232237	3	3	18	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		71232237	99882830	16	1433										
FDFT1	2222	broad.mit.edu	37	chr8	11667248	11667248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	gatgacatgaccatcagtgtGgaaaagaaggtcccgctgtt	12	8	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.chr8:11667248G>A	ENST00000220584.4	+	3	492	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_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			Somatic				FDFT1_ENST00000528643.1_Silent_p.V5V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron	p.V90V	NM_004462.3	NP_004453.3	WXS	Illumina GAIIx	Phase_I	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	6	95	---	---	---	---	A	11667248	G	A	11667248	2	1	18	1	0	0	0	0	0	0	0	1	5802	1335	47	2		2	FDFT1	8	11667248	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08		11667248	134696774	17	1434										
MCM4	4173	broad.mit.edu	37	chr8	48878815	48878815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	agctgattcccgagatgcagGaggccttcttccagtgccaa	11	12	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.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		Somatic				MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	p.E301K	NM_005914.3	NP_005905.2	WXS	Illumina GAIIx	Phase_I	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	93	76	---	---	---	---	A	48878815	G	A	48878815	3	1	18	1	0	0	0	0	1	0	0	0	9389	1175	41	2	931	2	MCM4	8	48878815	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	37211567	48878815	97485207	18	1435										
CSMD3	114788	broad.mit.edu	37	chr8	113277665	113277665	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	caagttggcattactccactCcatgtgccattaattgtaca	6	11	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.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_ENST00000352409.3_Nonsense_Mutation_p.W3151*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*	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)	Somatic				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*	p.W3221*	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	104	288	---	---	---	---	T	113277665	C	T	113277665	4	4	18	1	0	0	0	0	0	1	0	0	3946	856	30	2	1508	2	CSMD3	8	113277665	Nonsense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	64398850	113277665	33086357	19	1436										
TTLL11	158135	broad.mit.edu	37	chr9	124751554	124751554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ctctggagtcagcgcgatgaCcgtcttaatcaccacggaga	11	12	4	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.chr9:124751554C>A	ENST00000373776.3	-	4	1646	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	TTLL11_ENST00000321582.5_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR	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		Somatic				TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR	p.V487F	NM_001139442.1	NP_001132914.1	WXS	Illumina GAIIx	Phase_I	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	25	239	---	---	---	---	A	124751554	C	A	124751554	3	1	18	1	0	0	0	0	1	0	0	0	16721	507	18	3	1045	3	TTLL11	9	124751554	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		124751554	16461877	20	1437										
LCN8	389812	broad.mit.edu	37	chr9	139651558	139651558	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	aacaagccctccacccgcttCggggccgtcagcaccaggct	10	18	1	0	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				LCN8_ENST00000371688.3_Silent_p.P29P|LCN8_ENST00000482893.1_5'UTR|LCN15_ENST00000482511.1_5'Flank	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			Somatic				LCN8_ENST00000482893.1_5'UTR	p.P29P	NM_178469.3	NP_848564.2	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	T	139651558	C	T	139651558	1	4	18	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	21	1438										
ANKRD30A	91074	broad.mit.edu	37	chr10	37508619	37508619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	atcagaaattatttcaactaCaaagcaaaaatatgtggctt	5	6	2	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.chr10:37508619C>A	ENST00000602533.1	+	34	3910	c.3811C>A	c.(3811-3813)Caa>Aaa	p.Q1271K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q1390K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K			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		Somatic				ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K	p.Q1390K			WXS	Illumina GAIIx	Phase_I	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	7	78	---	---	---	---	A	37508619	C	A	37508619	3	1	18	1	0	0	0	0	1	0	0	0	658	479	17	3	3945	3	ANKRD30A	10	37508619	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		37508619	98026128	22	1439										
MLEC	9761	broad.mit.edu	37	chr12	121132062	121132062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	agaggtctactttgcacagtCccagcaaaaggtgaggccta	11	10	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.chr12:121132062C>A	ENST00000228506.3	+	2	832	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y|RP11-173P15.3_ENST00000541383.1_RNA	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		Somatic				MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	p.S135Y	NM_014730.2	NP_055545.1	WXS	Illumina GAIIx	Phase_I	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	37	87	---	---	---	---	A	121132062	C	A	121132062	3	1	18	1	0	0	0	0	1	0	0	0	9613	855	30	3	410	3	MLEC	12	121132062	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		121132062	12719833	23	1440										
NYNRIN	57523	broad.mit.edu	37	chr14	24878180	24878180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	gcttcaatttccccttctggCagagacctctgggccccatt	8	15	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.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		Somatic					p.Q394K	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	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	11	34	---	---	---	---	A	24878180	C	A	24878180	3	1	18	1	0	0	0	0	1	0	0	0	10796	711	25	3	1190	3	NYNRIN	14	24878180	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		24878180	82471360	24	1441										
NRXN3	9369	broad.mit.edu	37	chr14	80271470	80271470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	aacagccaacatcagatgatCttgtttcatctgctgaatgt	7	9	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.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_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000281127.7_Missense_Mutation_p.L309I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron	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		Somatic				NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I|NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000556003.1_Intron	p.L309I	NM_138970.3	NP_620426.2	WXS	Illumina GAIIx	Phase_I	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	9	228	---	---	---	---	A	80271470	C	A	80271470	3	1	18	1	0	0	0	0	1	0	0	0	10667	913	32	3	3220	3	NRXN3	14	80271470	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	55393290	80271470	27078070	25	1442										
RYR3	6263	broad.mit.edu	37	chr15	33835896	33835896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ttgacgataccatctacagaCcagaatgattcccagcacag	7	12	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.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			Somatic				RYR3_ENST00000415757.3_Silent_p.D240D	p.D240D	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	46	262	---	---	---	---	T	33835896	C	T	33835896	2	4	18	1	0	0	0	0	0	0	0	1	13770	506	18	2		2	RYR3	15	33835896	Silent	SNP	C	TCGA-CH-5753-01A-11D-1576-08		33835896	68695496	26	1443										
STRC	161497	broad.mit.edu	37	chr15	43896963	43896963	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	gatctgtagggggatctgtcGtgtgctctctgtccccagga	14	10	3	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.chr15:43896963G>A	ENST00000450892.2	-	20	4089	c.4012C>T	c.(4012-4014)Cga>Tga	p.R1338*	STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*|RNU6-554P_ENST00000410466.1_RNA	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*		Somatic				STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	p.R1338*	NM_153700.2	NP_714544.1	WXS	Illumina GAIIx	Phase_I	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	44	50	---	---	---	---	A	43896963	G	A	43896963	4	1	18	1	0	0	0	0	0	1	0	0	15327	1153	40	2	1355	2	STRC	15	43896963	Nonsense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	10061067	43896963	58634429	27	1444										
CEP152	22995	broad.mit.edu	37	chr15	49036526	49036526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ggcaagcattttcaatggccCctgctgacaatgacctaaaa	8	11	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.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		Somatic				CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E	p.G1249E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	WXS	Illumina GAIIx	Phase_I	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	47	58	---	---	---	---	T	49036526	C	T	49036526	3	4	18	1	0	0	0	0	1	0	0	0	3248	623	22	2	1402	2	CEP152	15	49036526	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	5139563	49036526	53494866	28	1445										
VPS13C	54832	broad.mit.edu	37	chr15	62266506	62266506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	cctgtctctctggagactggGctgatgatttctgtggcaaa	12	9	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.chr15:62266506G>A	ENST00000261517.5	-	25	2592	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|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		Somatic				VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V	p.A840V	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	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	82	140	---	---	---	---	A	62266506	G	A	62266506	3	1	18	1	0	0	0	0	1	0	0	0	17188	1203	42	2	9014	2	VPS13C	15	62266506	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13229980	62266506	40264886	29	1446										
ACAN	176	broad.mit.edu	37	chr15	89386657	89386657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ccaatgagtgccggcggctgGgtgcccggctggccaccacg	16	15	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.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_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000439576.2_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_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		Somatic				ACAN_ENST00000558207.1_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000561243.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S	p.G277S	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	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	6	13	---	---	---	---	A	89386657	G	A	89386657	3	1	18	1	0	0	0	0	1	0	0	0	117	1232	43	2	847	2	ACAN	15	89386657	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	27120151	89386657	13144735	30	1447										
TCEB2	6923	broad.mit.edu	37	chr16	2827129	2827129	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	cggatcatgaggaacacgtcCtgggggcggcgggccggcgt	19	11	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.chr16:2827129C>T	ENST00000409906.4	-	2	61		c.e2-1		TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000409477.1_5'UTR	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			Somatic				TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site|TCEB2_ENST00000409477.1_5'UTR		NM_007108.3	NP_009039.1	WXS	Illumina GAIIx	Phase_I	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	7	10	---	---	---	---	T	2827129	C	T	2827129	5	4	18	1	0	0	0	0	0	0	1	0	15677	695	24	2	502	2	TCEB2	16	2827129	Splice_Site	SNP	C	TCGA-CH-5753-01A-11D-1576-08		2827129	87527624	31	1448										
ABCC12	94160	broad.mit.edu	37	chr16	48121966	48121966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	cactggctggctccaccagaCgaaacaaagccattcctaac	7	15	0	1	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_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000416054.1_3'UTR	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		Somatic				ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	p.R1169H	NM_033226.2	NP_150229.2	WXS	Illumina GAIIx	Phase_I	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	27	32	---	---	---	---	T	48121966	C	T	48121966	3	4	18	1	0	0	0	0	1	0	0	0	52	536	19	2	593	2	ABCC12	16	48121966	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	45294837	48121966	42232787	32	1449										
IGF2BP1	10642	broad.mit.edu	37	chr17	47121400	47121400	+	Frame_Shift_Del	DEL	G	G	-													0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	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)aagfs		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		Somatic				IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	p.K424fs	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	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	18	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	33	1450										
TLK2	11011	broad.mit.edu	37	chr17	60654069	60654069	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	acttttaccactgtttttcaGgttaacgttagcagaatacc	6	9	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.chr17:60654069G>A	ENST00000326270.9	+	14	1455		c.e14-1		TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000582809.1_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			Somatic				TLK2_ENST00000542523.1_Splice_Site|TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	9	271	---	---	---	---	A	60654069	G	A	60654069	5	1	18	1	0	0	0	0	0	0	1	0	15941	1014	35	2	1167	2	TLK2	17	60654069	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13532669	60654069	20541141	34	1451										
NDC80	10403	broad.mit.edu	37	chr18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ataacttgcaacgtctgttaGagatggttgctacacatgtt	9	7	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.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		Somatic					p.E587K	NM_006101.2	NP_006092.1	WXS	Illumina GAIIx	Phase_I	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	14	255	---	---	---	---	A	2610828	G	A	2610828	3	1	18	1	0	0	0	0	1	0	0	0	10242	943	33	2	1817	2	NDC80	18	2610828	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		2610828	75466420	35	1452										
LMAN1	3998	broad.mit.edu	37	chr18	57006162	57006162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ttgtcttagctctcgatctcCtacactctcaaatatttcct	3	13	4	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.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		Somatic					p.G327R	NM_005570.3	NP_005561.1	WXS	Illumina GAIIx	Phase_I	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	41	178	---	---	---	---	T	57006162	C	T	57006162	3	4	18	1	0	0	0	0	1	0	0	0	8836	690	24	2	573	2	LMAN1	18	57006162	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	54395334	57006162	21071086	36	1453										
GABRE	2564	broad.mit.edu	37	chrX	151138738	151138738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0540540540540541	2	1	0.73469387755102	0	0.777911164465786	0.4	1	0	ggcttctggcagtttgccaaCtctgctcccagtctcagtct	9	14	4	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.chrX:151138738C>T	ENST00000370328.3	-	2	246	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.V65I	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		Somatic				GABRE_ENST00000370328.3_Missense_Mutation_p.V65I|GABRE_ENST00000393914.3_5'UTR	p.V65I			WXS	Illumina GAIIx	Phase_I	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	10	220	---	---	---	---	T	151138738	C	T	151138738	3	4	18	1	0	0	0	0	1	0	0	0	6170	565	20	2	1359	2	GABRE	23	151138738	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		151138738	4131822	37	1454										
PLCH2	9651	broad.mit.edu	37	chr1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cccattgtgcaccatggctaCactctgacttccaagatcct	6	15	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.chr1:2419086C>A	ENST00000419816.2	+	8	1438	c.1164C>A	c.(1162-1164)taC>taA	p.Y388*	PLCH2_ENST00000449969.1_Nonsense_Mutation_p.Y361*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|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*		Somatic				PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*	p.Y361*			WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	A	2419086	C	A	2419086	4	1	19	1	0	0	0	0	0	1	0	0	12038	489	17	3	1194	3	PLCH2	1	2419086	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		2419086	246831535	1	1455										
VPS13D	55187	broad.mit.edu	37	chr1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	attaaactgtattctttgaaTtgcacccagttggcaggtag	9	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.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		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	p.N1435K	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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	88	179	---	---	---	---	G	12337950	T	G	12337950	3	3	19	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	9918864	12337950	236912671	2	1456										
TGFBR3	7049	broad.mit.edu	37	chr1	92262994	92262994	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	acaggatgggaggcactgacAggtgacagttcacacagtgc	14	9	1	2	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			Somatic				TGFBR3_ENST00000370399.2_Silent_p.P32P|TGFBR3_ENST00000525962.1_Silent_p.P32P	p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	WXS	Illumina GAIIx	Phase_I	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	42	96	---	---	---	---	T	92262994	A	T	92262994	2	4	19	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	79925044	92262994	156987627	3	1457										
VAV3	10451	broad.mit.edu	37	chr1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aggccgtgagaaatgtccttAtgttcttcaaacagagaaac	9	8	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.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000371846.4_Missense_Mutation_p.I10R|VAV3_ENST00000527011.1_Missense_Mutation_p.I75R	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		Somatic				VAV3_ENST00000527011.1_Missense_Mutation_p.I75R|VAV3_ENST00000371846.4_Missense_Mutation_p.I10R	p.I75R	NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	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	48	104	---	---	---	---	C	108417620	A	C	108417620	3	2	19	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	4	1458										
CACYBP	27101	broad.mit.edu	37	chr1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gagagaagcaagccaaaggaGacacggaattttgagacttt	12	6	0	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_ENST00000405362.1_Missense_Mutation_p.D182N|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_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		Somatic				CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	p.D182N	NM_001007214.1	NP_001007215.1	WXS	Illumina GAIIx	Phase_I	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	30	77	---	---	---	---	A	174979201	G	A	174979201	3	1	19	1	0	0	0	0	1	0	0	0	2564	942	33	2	695	2	CACYBP	1	174979201	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	66561581	174979201	74271420	5	1459										
TDRD5	163589	broad.mit.edu	37	chr1	179638343	179638343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ctgcagcaactagacataaaTggttcttcagattcttccac	6	11	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	69	148	---	---	---	---	C	179638343	T	C	179638343	2	2	19	1	0	0	0	0	0	0	0	1	15730	1461	51	2		2	TDRD5	1	179638343	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	4659142	179638343	69612278	6	1460										
F13B	2165	broad.mit.edu	37	chr1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	accatgttctttcctacaggTtggttgagaagaccatccat	8	10	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.chr1:197030932T>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		Somatic					p.T145A	NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	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	36	79	---	---	---	---	C	197030932	T	C	197030932	3	2	19	1	0	0	0	0	1	0	0	0	5341	1725	60	2	1592	2	F13B	1	197030932	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	17392589	197030932	52219689	7	1461										
GPR37L1	9283	broad.mit.edu	37	chr1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgaggagtgggcggagtaccCccggcccattcaccctgctg	14	14	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.chr1:202092294C>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																																						ENST00000367282.5																			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		Somatic					p.P68L	NM_004767.3	NP_004758.3	WXS	Illumina GAIIx	Phase_I	O60883	ETBR2_HUMAN			1	309	+								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	6	45	---	---	---	---	T	202092294	C	T	202092294	3	4	19	1	0	0	0	0	1	0	0	0	6692	623	22	2	205	2	GPR37L1	1	202092294	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	5061362	202092294	47158327	8	1462										
GPATCH2	55105	broad.mit.edu	37	chr1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ttggctcagagatccccttgCcatctcgtccaaggcctgac	9	15	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.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		Somatic					p.G490D	NM_018040.2	NP_060510.1	WXS	Illumina GAIIx	Phase_I	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	6	377	---	---	---	---	T	217604605	C	T	217604605	3	4	19	1	0	0	0	0	1	0	0	0	6591	739	26	2	121	2	GPATCH2	1	217604605	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	15512311	217604605	31646016	9	1463										
NLRP3	114548	broad.mit.edu	37	chr1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atcctcggcatgtggagatcCtgggtttctccgaggccaaa	12	11	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_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L371M|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	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		Somatic				NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M	p.L371M	NM_001127461.2	NP_001120933.1	WXS	Illumina GAIIx	Phase_I	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	58	129	---	---	---	---	A	247587856	C	A	247587856	3	1	19	1	0	0	0	0	1	0	0	0	10478	680	24	1	1121	1	NLRP3	1	247587856	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	29983251	247587856	1662765	10	1464										
SNRNP200	23020	broad.mit.edu	37	chr2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gcactcacttggctcttcttTcctcctgcatctgcggtttg	8	14	4	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.chr2:96970455T>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		Somatic				SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	p.E66A	NM_014014.4	NP_054733.2	WXS	Illumina GAIIx	Phase_I	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	41	105	---	---	---	---	G	96970455	T	G	96970455	3	3	19	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	11	1465										
SLC5A7	60482	broad.mit.edu	37	chr2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cgatgtggatatgcacatttCtgtcatcatctctgcactca	7	11	5	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.chr2:108614336C>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		Somatic				SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C	p.S164C	NM_021815.2	NP_068587.1	WXS	Illumina GAIIx	Phase_I	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	174	372	---	---	---	---	G	108614336	C	G	108614336	3	3	19	1	0	0	0	0	1	0	0	0	14670	913	32	4	505	4	SLC5A7	2	108614336	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11643881	108614336	134585037	12	1466										
SMARCAL1	50485	broad.mit.edu	37	chr2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	agtagctcatctaatgctgaCcaaagacctcatgattccca	6	12	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		Somatic				SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	p.D83E	NM_014140.3	NP_054859.2	WXS	Illumina GAIIx	Phase_I	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	27	134	---	---	---	---	G	217279676	C	G	217279676	3	3	19	1	0	0	0	0	1	0	0	0	14773	506	18	4	251	4	SMARCAL1	2	217279676	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	108665340	217279676	25919697	13	1467										
VIL1	7429	broad.mit.edu	37	chr2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	agctccccgagggtgtggacCccagcaggaaggaggtaggt	17	10	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.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		Somatic				VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	p.P786S	NM_007127.2	NP_009058.2	WXS	Illumina GAIIx	Phase_I	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	17	45	---	---	---	---	T	219305571	C	T	219305571	3	4	19	1	0	0	0	0	1	0	0	0	17161	623	22	2	2426	2	VIL1	2	219305571	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2025895	219305571	23893802	14	1468										
STAC	6769	broad.mit.edu	37	chr3	36524554	36524554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	caccacaagtgcacagatggCctggcaccccagcggtgcat	11	15	0	1	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_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	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			Somatic				STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	p.G153G	NM_003149.1	NP_003140.1	WXS	Illumina GAIIx	Phase_I	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	33	90	---	---	---	---	T	36524554	C	T	36524554	2	4	19	1	0	0	0	0	0	0	0	1	15238	726	26	2		2	STAC	3	36524554	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08		36524554	161497876	15	1469										
SCN11A	11280	broad.mit.edu	37	chr3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atgctcatcaaagtggtccaGtgatagattctgggacagtc	11	8	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.chr3:38946767G>T	ENST00000302328.3	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_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		Somatic				SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M	p.L507M	NM_014139.2	NP_054858.2	WXS	Illumina GAIIx	Phase_I	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	85	190	---	---	---	---	T	38946767	G	T	38946767	3	4	19	1	0	0	0	0	1	0	0	0	13913	1020	36	3	3920	3	SCN11A	3	38946767	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2422213	38946767	159075663	16	1470										
GBE1	2632	broad.mit.edu	37	chr3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgatttggtaaccaaagctgGcatagtaagcatgctccatg	10	8	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.chr3:81695585G>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		Somatic				GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	p.A247V	NM_000158.3	NP_000149	WXS	Illumina GAIIx	Phase_I	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	54	111	---	---	---	---	A	81695585	G	A	81695585	3	1	19	1	0	0	0	0	1	0	0	0	6270	1203	42	2	1412	2	GBE1	3	81695585	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	42748818	81695585	116326845	17	1471										
DNAJC13	23317	broad.mit.edu	37	chr3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	agataggttgattctcttccTtaacaagttgatccttaata	6	7	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.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		Somatic					p.L917P	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	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	15	153	---	---	---	---	C	132198111	T	C	132198111	3	2	19	1	0	0	0	0	1	0	0	0	4632	1609	56	2	2844	2	DNAJC13	3	132198111	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	50502526	132198111	65824319	18	1472										
CEP63	80254	broad.mit.edu	37	chr3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ggctcagcttgtcaatcggaAacagaaattagagtctgtgg	12	7	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.chr3:134264447A>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_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_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		Somatic				CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000383229.3_Missense_Mutation_p.K192T	p.K192T			WXS	Illumina GAIIx	Phase_I	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	34	119	---	---	---	---	C	134264447	A	C	134264447	3	2	19	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	19	1473										
IGSF10	285313	broad.mit.edu	37	chr3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ctgtttcctcttagataaatCaagtcctgagaagaaaaaaa	6	7	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.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		Somatic					p.D1690H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	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	24	96	---	---	---	---	G	151161667	C	G	151161667	3	3	19	1	0	0	0	0	1	0	0	0	7597	826	29	4	2859	4	IGSF10	3	151161667	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	16897220	151161667	46860763	20	1474										
PSMD2	5708	broad.mit.edu	37	chr3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gtggtgggccaggctggcaaGccgaagactatcacagggtt	16	9	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.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N	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		Somatic	OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	p.K858N	NM_002808.3	NP_002799.3	WXS	Illumina GAIIx	Phase_I	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	31	106	---	---	---	---	C	184026525	G	C	184026525	3	2	19	1	0	0	0	0	1	0	0	0	12698	962	34	4	2656	4	PSMD2	3	184026525	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	32864858	184026525	13995905	21	1475										
MASP1	5648	broad.mit.edu	37	chr3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ccacagaaaggccccaaaacTtttggaccaactttgatctg	7	12	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.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N	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		Somatic				MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N	p.K254N	NM_001879.5	NP_001870.3	WXS	Illumina GAIIx	Phase_I	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	159	436	---	---	---	---	G	186971086	T	G	186971086	3	3	19	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	22	1476										
ATP13A3	79572	broad.mit.edu	37	chr3	194126843	194126843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tttccccaccgatccactgaCtcctaagaaaataagaaaaa	4	12	0	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			Somatic				ATP13A3_ENST00000256031.4_Silent_p.E1162E	p.E1162E			WXS	Illumina GAIIx	Phase_I	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	14	133	---	---	---	---	T	194126843	C	T	194126843	2	4	19	1	0	0	0	0	0	0	0	1	1125	564	20	2		2	ATP13A3	3	194126843	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7155757	194126843	3895587	23	1477										
FSTL5	56884	broad.mit.edu	37	chr4	162577600	162577600	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ctttgtcccacagttgctgcAgtgatgcttagtttctgatc	9	10	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.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			Somatic				FSTL5_ENST00000536695.1_Silent_p.T257T|FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR	p.T258T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina GAIIx	Phase_I	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	18	88	---	---	---	---	G	162577600	A	G	162577600	2	3	19	1	0	0	0	0	0	0	0	1	6080	175	7	2		2	FSTL5	4	162577600	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08		162577600	28576676	24	1478										
PCDHA1	56147	broad.mit.edu	37	chr5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gaattgagaaaatatttggaTagagaagaaacaccagaact	9	4	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.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000394633.3_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	56147							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		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E	p.D201E	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			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	11	121	---	---	---	---	A	140166478	T	A	140166478	3	1	19	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	25	1479										
PGBD1	84547	broad.mit.edu	37	chr6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gtctgtgctccaatgctgtgGgcatagaaccagtcaatgag	12	9	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.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		Somatic				PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina GAIIx	Phase_I	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	24	251	---	---	---	---	C	28269738	G	C	28269738	3	2	19	1	0	0	0	0	1	0	0	0	11780	1232	43	4	2129	4	PGBD1	6	28269738	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		28269738	142845329	26	1480										
C6orf138	442213	broad.mit.edu	37	chr6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aagggcttactgcgcaagcaGtccttcatggagctggagag	14	9	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.chr6:47976509G>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		Somatic				PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E	p.D239E			WXS	Illumina GAIIx	Phase_I	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	8	73	---	---	---	---	C	47976509	G	C	47976509	3	2	19	1	0	0	0	0	1	0	0	0	2332	1020	36	4	1780	4	C6orf138	6	47976509	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	19706771	47976509	123138558	27	1481										
DST	667	broad.mit.edu	37	chr6	56341001	56341001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atctcctgggggatgacttcTttatccttatcagtaagtgt	9	8	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.chr6:56341001T>C	ENST00000361203.3	-	87	20857	c.20850A>G	c.(20848-20850)aaA>aaG	p.K6950K	DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370754.5_Silent_p.K7239K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.K4973K|DST_ENST00000370769.4_Silent_p.K7061K			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			Somatic				DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000421834.2_Silent_p.K4973K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000361203.3_Silent_p.K6950K	p.K7239K			WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	C	56341001	T	C	56341001	2	2	19	1	0	0	0	0	0	0	0	1	4783	1606	56	2		2	DST	6	56341001	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	8364492	56341001	114774066	28	1482										
PARK2	5071	broad.mit.edu	37	chr6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gggcataacacgccccccatCtgcaggacacactcctctgc	8	18	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.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|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		Somatic				PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H	p.Q326H	NM_004562.2	NP_004553.2	WXS	Illumina GAIIx	Phase_I	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	60	150	---	---	---	---	A	161969991	C	A	161969991	3	1	19	1	0	0	0	0	1	0	0	0	11449	912	32	3	435	3	PARK2	6	161969991	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	105628990	161969991	9145076	29	1483										
OR2AE1	81392	broad.mit.edu	37	chr7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tcacggatgcccccaaccatGacatgacagccatcatcagt	7	15	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.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*		Somatic					p.S148*	NM_001005276.1	NP_001005276.1	WXS	Illumina GAIIx	Phase_I	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	54	122	---	---	---	---	T	99474214	G	T	99474214	4	4	19	1	0	0	0	0	0	1	0	0	10983	1294	45	3	532	3	OR2AE1	7	99474214	Nonsense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		99474214	59664449	30	1484										
SERPINE1	5054	broad.mit.edu	37	chr7	100775170	100775170	+	Silent	SNP	T	T	C													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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			Somatic				SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	WXS	Illumina GAIIx	Phase_I	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	20	317	---	---	---	---	C	100775170	T	C	100775170	2	2	19	1	0	0	0	0	0	0	0	1	14111	1606	56	2		2	SERPINE1	7	100775170	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	1300956	100775170	58363493	31	1485	3	2								
SERPINE1	5054	broad.mit.edu	37	chr7	100775172	100775172	+	Silent	SNP	G	G	A													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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			Somatic				SERPINE1_ENST00000445463.2_Silent_p.L159L	p.L174L	NM_000602.4	NP_000593.1	WXS	Illumina GAIIx	Phase_I	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	19	311	---	---	---	---	A	100775172	G	A	100775172	2	1	19	1	0	0	0	0	0	0	0	1	14111	1310	46	2		2	SERPINE1	7	100775172	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2	100775172	58363491	32	1486	3	2								
C7orf60	154743	broad.mit.edu	37	chr7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cttcgccctcacaagtttttGcccaatgattatctgccaaa	5	13	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.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		Somatic				C7orf60_ENST00000485446.1_5'UTR	p.A87G	NM_152556.2	NP_689769.2	WXS	Illumina GAIIx	Phase_I	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	49	147	---	---	---	---	C	112555403	G	C	112555403	3	2	19	1	0	0	0	0	1	0	0	0	2407	1319	46	4	973	4	C7orf60	7	112555403	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11780231	112555403	46583260	33	1487										
CNOT4	4850	broad.mit.edu	37	chr7	135106938	135106938	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aggcgctgagataaacctacAacaaagacgaggtttttttg	10	7	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.chr7:135106938A>C	ENST00000315544.5	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000428680.2_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			Somatic				CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V	p.V113V	NM_001008225.2	NP_001008226.1	WXS	Illumina GAIIx	Phase_I	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	54	128	---	---	---	---	C	135106938	A	C	135106938	2	2	19	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	34	1488										
ESYT2	57488	broad.mit.edu	37	chr7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tctaatgattccataggggtCtgactttcccttgacaagtc	8	10	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.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		Somatic					p.D385H	NM_020728.2	NP_065779.1	WXS	Illumina GAIIx	Phase_I	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	41	323	---	---	---	---	G	158557460	C	G	158557460	3	3	19	1	0	0	0	0	1	0	0	0	5265	913	32	4	1584	4	ESYT2	7	158557460	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	23450522	158557460	581203	35	1489										
PREX2	80243	broad.mit.edu	37	chr8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgtatttataggaactgtggCtgcagcagctggtcttcacc	11	9	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.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		Somatic				RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.A708V	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	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	54	63	---	---	---	---	T	69002823	C	T	69002823	3	4	19	1	0	0	0	0	1	0	0	0	12477	797	28	2	2201	2	PREX2	8	69002823	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		69002823	77361199	36	1490										
GRHL2	79977	broad.mit.edu	37	chr8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cgggaacagtacagcatcagCttccccgagagctctgccat	10	14	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.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		Somatic				GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	p.S142R	NM_024915.3	NP_079191.2	WXS	Illumina GAIIx	Phase_I	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	70	235	---	---	---	---	A	102570788	C	A	102570788	3	1	19	1	0	0	0	0	1	0	0	0	6764	796	28	3	440	3	GRHL2	8	102570788	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	33567965	102570788	43793234	37	1491										
SNTB1	6641	broad.mit.edu	37	chr8	121554095	121554095	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tctaaatacagcatcctgatTccatcatctgaagacatttt	4	10	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.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	MTBP_ENST00000519841.1_Intron|SNTB1_ENST00000517992.1_Silent_p.G493G	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			Somatic				MTBP_ENST00000519841.1_Intron|SNTB1_ENST00000517992.1_Silent_p.G493G	p.G493G	NM_021021.3	NP_066301.1	WXS	Illumina GAIIx	Phase_I	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	10	219	---	---	---	---	A	121554095	T	A	121554095	2	1	19	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	38	1492										
FAM83A	84985	broad.mit.edu	37	chr8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cggtacccgaagtgtgtccgCgtcttcagggccctgtagcc	13	14	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.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_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_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		Somatic				FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron	p.A351V			WXS	Illumina GAIIx	Phase_I	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	6	28	---	---	---	---	T	124219675	C	T	124219675	3	4	19	1	0	0	0	0	1	0	0	0	5633	768	27	2	1066	2	FAM83A	8	124219675	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2665580	124219675	22144347	39	1493										
ATAD2	29028	broad.mit.edu	37	chr8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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.(2854-2856)gga>ga		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			Somatic				ATAD2_ENST00000521903.1_Splice_Site_p.G270fs	p.G952fs	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	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.2855delGAAGT	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	19	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	40	1494										
EIF2C2	27161	broad.mit.edu	37	chr8	141567320	141567320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tccaccgtctgcccgctctcCtgctgcagcgggaatctgag	11	16	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.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			Somatic				AGO2_ENST00000519980.1_Silent_p.Q298Q	p.Q298Q	NM_012154.3	NP_036286.2	WXS	Illumina GAIIx	Phase_I					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	6	286	---	---	---	---	T	141567320	C	T	141567320	2	4	19	1	0	0	0	0	0	0	0	1	5006	680	24	2		2	EIF2C2	8	141567320	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	17217259	141567320	4796702	41	1495										
TSTA3	7264	broad.mit.edu	37	chr8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aggacctgttctgcacgtcgAtcatcctcttggcatacgag	10	12	3	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.chr8:144696809A>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		Somatic				TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	p.I150S	NM_003313.3	NP_003304.1	WXS	Illumina GAIIx	Phase_I	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	27	119	---	---	---	---	C	144696809	A	C	144696809	3	2	19	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	42	1496										
KANK1	23189	broad.mit.edu	37	chr9	711931	711931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aggacagcagctgtgaggccTcctcagagctcagggagaat	14	10	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.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_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P	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		Somatic				KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P|KANK1_ENST00000489369.1_3'UTR	p.S389P	NM_001256876.1	NP_001243805.1	WXS	Illumina GAIIx	Phase_I	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	22	68	---	---	---	---	C	711931	T	C	711931	3	2	19	1	0	0	0	0	1	0	0	0	7976	1551	54	2	1171	2	KANK1	9	711931	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		711931	140501500	43	1497										
TAF1L	138474	broad.mit.edu	37	chr9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ggcgacgaaggtctgcatctGttcctgtcactgtcttcttc	10	12	5	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.chr9:32632549G>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		Somatic					p.T1010I	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	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	154	334	---	---	---	---	A	32632549	G	A	32632549	3	1	19	1	0	0	0	0	1	0	0	0	15520	1377	48	2	2455	2	TAF1L	9	32632549	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	31920618	32632549	108580882	44	1498										
KIF24	347240	broad.mit.edu	37	chr9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gtactcagccctgtggtgggCgttgccaaaggagagctcaa	14	10	2	1	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		Somatic				KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000402558.2_Missense_Mutation_p.A727T	p.A727T	NM_194313.2	NP_919289.2	WXS	Illumina GAIIx	Phase_I	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	134	303	---	---	---	---	T	34257426	C	T	34257426	3	4	19	1	0	0	0	0	1	0	0	0	8292	768	27	2	1939	2	KIF24	9	34257426	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1624877	34257426	106956005	45	1499										
SPAG6	9576	broad.mit.edu	37	chr10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	agccataaagaatatcctgcAaaaatgtacctacttaccag	5	10	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.chr10:22690118A>G	ENST00000376624.3	+	9	1368	c.1226A>G	c.(1225-1227)cAa>cGa	p.Q409R	SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000376603.2_Missense_Mutation_p.Q485R|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R	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		Somatic				SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|RP11-301N24.3_ENST00000422675.1_RNA	p.Q485R			WXS	Illumina GAIIx	Phase_I	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	11	124	---	---	---	---	G	22690118	A	G	22690118	3	3	19	1	0	0	0	0	1	0	0	0	14982	130	5	2	1260	2	SPAG6	10	22690118	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08		22690118	112844629	46	1500										
RBP3	5949	broad.mit.edu	37	chr10	48390797	48390797	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	accttggccatgtccagcacCaggcttggctggaacaggtg	13	12	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.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			Somatic					p.L27L	NM_002900.2	NP_002891.1	WXS	Illumina GAIIx	Phase_I	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	23	64	---	---	---	---	A	48390797	C	A	48390797	2	1	19	1	0	0	0	0	0	0	0	1	13157	581	21	1		1	RBP3	10	48390797	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	25700679	48390797	87143950	47	1501										
ZNF518A	9849	broad.mit.edu	37	chr10	97918959	97918959	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cctggaaatgcacttccattGgttaattcacaaggtatccc	7	11	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	55	262	---	---	---	---	C	97918959	G	C	97918959	1	2	19	0	1	0	0	0	0	0	0	0	17959	1339	47	4		4	ZNF518A	10	97918959	RNA	SNP	G	TCGA-CH-5754-01A-11D-1576-08	49528162	97918959	37615788	48	1502										
OR5P2	120065	broad.mit.edu	37	chr11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gacagcaatgagaaaaccagCtatgtaaactactaagagta	8	7	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.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		Somatic				RP11-35J10.5_ENST00000527565.1_lincRNA	p.A147S	NM_153444.1	NP_703145.1	WXS	Illumina GAIIx	Phase_I	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	42	137	---	---	---	---	A	7818051	C	A	7818051	3	1	19	1	0	0	0	0	1	0	0	0	11178	797	28	3	533	3	OR5P2	11	7818051	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		7818051	127188465	49	1503										
CHRDL2	25884	broad.mit.edu	37	chr11	74421957	74421957	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aacagctcatgggcactgaaGatctctccgtgttggtacat	10	10	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.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I123I	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			Somatic				CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	p.I123I	NM_001278473.1	NP_001265402.1	WXS	Illumina GAIIx	Phase_I	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	6	54	---	---	---	---	T	74421957	G	T	74421957	2	4	19	1	0	0	0	0	0	0	0	1	3374	932	33	3		3	CHRDL2	11	74421957	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	66603906	74421957	60584559	50	1504										
INTS4	92105	broad.mit.edu	37	chr11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ctgcagatttacttggttttGttagtcggagtttcttagta	10	5	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.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		Somatic				INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	p.T31R	NM_033547.3	NP_291025.3	WXS	Illumina GAIIx	Phase_I	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	50	125	---	---	---	---	C	77702308	G	C	77702308	3	2	19	1	0	0	0	0	1	0	0	0	7780	1377	48	4	2887	4	INTS4	11	77702308	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	3280351	77702308	57304208	51	1505										
FAT3	120114	broad.mit.edu	37	chr11	92570900	92570900	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atgtcatcaactgcaactgtCaacattgatatttctgatgt	6	8	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.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)	Somatic				FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V	p.V3432V			WXS	Illumina GAIIx	Phase_I	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	32	66	---	---	---	---	T	92570900	C	T	92570900	2	4	19	1	0	0	0	0	0	0	0	1	5691	813	29	2		2	FAT3	11	92570900	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	14868592	92570900	42435616	52	1506										
KIAA1377	57562	broad.mit.edu	37	chr11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ttaataaggagcattccacaTccatccagcggaataccatt	6	11	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.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		Somatic				KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	p.S275P	NM_020802.2	NP_065853.2	WXS	Illumina GAIIx	Phase_I	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	42	90	---	---	---	---	C	101832589	T	C	101832589	3	2	19	1	0	0	0	0	1	0	0	0	8227	1435	50	2	845	2	KIAA1377	11	101832589	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	9261689	101832589	33173927	53	1507										
ANO4	121601	broad.mit.edu	37	chr12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gactgggatttgatagactgGgaagaagaggaggtttgtat	16	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.chr12:101473041G>C	ENST00000392977.3	+	15	1593	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	ANO4_ENST00000550015.1_Missense_Mutation_p.W28C|ANO4_ENST00000392979.3_Missense_Mutation_p.W426C|ANO4_ENST00000299222.9_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)	Somatic				ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C|ANO4_ENST00000392977.3_Missense_Mutation_p.W461C	p.W426C	NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	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	63	159	---	---	---	---	C	101473041	G	C	101473041	3	2	19	1	0	0	0	0	1	0	0	0	699	1241	43	4	1328	4	ANO4	12	101473041	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		101473041	32378854	54	1508										
BRCA2	675	broad.mit.edu	37	chr13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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)aacfs	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)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	p.N433fs	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	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	19	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	55	1509										
FAM70B	348013	broad.mit.edu	37	chr13	114514745	114514745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cagttgcgccctcctctgccCtggcttcgtctgaggacctg	11	16	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.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			Somatic				TMEM255B_ENST00000467169.1_3'UTR	p.L284L	NM_182614.2	NP_872420.1	WXS	Illumina GAIIx	Phase_I					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	39	107	---	---	---	---	T	114514745	C	T	114514745	2	4	19	1	0	0	0	0	0	0	0	1	5606	680	24	2		2	FAM70B	13	114514745	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	81607833	114514745	655133	56	1510										
PRMT5	10419	broad.mit.edu	37	chr14	23398392	23398392	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tcacccctgcttctccgggaTgactagtctgcccttctccg	8	17	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.chr14:23398392T>A	ENST00000324366.8	-	1	334				PRMT5-AS1_ENST00000590290.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|PRMT5_ENST00000397441.2_Missense_Mutation_p.I15F|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000595662.1_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			Somatic				PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F	p.I15F	NM_001039619.1	NP_001034708.1	WXS	Illumina GAIIx	Phase_I	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	41	91	---	---	---	---	A	23398392	T	A	23398392	1	1	19	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	57	1511										
NYNRIN	57523	broad.mit.edu	37	chr14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgcccaggggggtgggcagtGgtggagtttgccaaaggatg	20	6	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.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		Somatic					p.W1455S	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	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	36	62	---	---	---	---	C	24885319	G	C	24885319	3	2	19	1	0	0	0	0	1	0	0	0	10796	1357	47	4	4394	4	NYNRIN	14	24885319	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1486927	24885319	82464221	58	1512										
FSCB	84075	broad.mit.edu	37	chr14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	catcagtttgctgggatttgCctaccattggtttgctgggt	12	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.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		Somatic					p.G3V	NM_032135.3	NP_115511.3	WXS	Illumina GAIIx	Phase_I	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	105	274	---	---	---	---	A	44976183	C	A	44976183	3	1	19	1	0	0	0	0	1	0	0	0	6066	739	26	3	2473	3	FSCB	14	44976183	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	20090864	44976183	62373357	59	1513										
FANCM	57697	broad.mit.edu	37	chr14	45639925	45639925	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cctcaagttcagttttcttcTttacaaaatgaggaaaacaa	5	8	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.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			Somatic				FANCM_ENST00000542564.2_Silent_p.S686S	p.S712S	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	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	62	122	---	---	---	---	G	45639925	T	G	45639925	2	3	19	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	60	1514										
PCNX	22990	broad.mit.edu	37	chr14	71514563	71514563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	actgttgctggtttgaagttGctacgatcctcttttagcag	10	8	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.chr14:71514563G>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			Somatic				PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	p.L1400L	NM_014982.2	NP_055797.2	WXS	Illumina GAIIx	Phase_I	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	46	233	---	---	---	---	A	71514563	G	A	71514563	2	1	19	1	0	0	0	0	0	0	0	1	11591	1310	46	2		2	PCNX	14	71514563	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	25874638	71514563	35834977	61	1515										
ZNF410	57862	broad.mit.edu	37	chr14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tatgtgactctgttacaggaGaaaatgtccaccttggttct	9	8	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.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|Y_RNA_ENST00000362602.1_RNA|RP5-1021I20.5_ENST00000554009.1_RNA|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|RP5-1021I20.6_ENST00000602874.1_RNA	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		Somatic				RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA	p.E195K	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	WXS	Illumina GAIIx	Phase_I	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	39	105	---	---	---	---	A	74370665	G	A	74370665	3	1	19	1	0	0	0	0	1	0	0	0	17887	943	33	2	601	2	ZNF410	14	74370665	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2856102	74370665	32978875	62	1516										
C14orf166B	145497	broad.mit.edu	37	chr14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gggagaattcggaaacagacCtggagattgaaggcgagcat	15	6	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.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M	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		Somatic				C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M	p.L69M	NM_194287.2	NP_919263.2	WXS	Illumina GAIIx	Phase_I	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	27	89	---	---	---	---	A	77294750	C	A	77294750	3	1	19	1	0	0	0	0	1	0	0	0	1757	680	24	1	211	1	C14orf166B	14	77294750	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2924085	77294750	30054790	63	1517										
AQR	9716	broad.mit.edu	37	chr15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgttggatatgatctgaactGccacatctgttttgcctgta	9	8	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.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		Somatic					p.A833V	NM_014691.2	NP_055506.1	WXS	Illumina GAIIx	Phase_I	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	70	144	---	---	---	---	A	35185937	G	A	35185937	3	1	19	1	0	0	0	0	1	0	0	0	835	1319	46	2	2011	2	AQR	15	35185937	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		35185937	67345455	64	1518			1	2		2	2	34	N	G_A	9.167214e-05
AQR	9716	broad.mit.edu	37	chr15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgcctgtaccaggtgggcccAcaacctaaaaagaagatgaa	10	10	0	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.chr15:35185970A>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		Somatic					p.V822G	NM_014691.2	NP_055506.1	WXS	Illumina GAIIx	Phase_I	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	41	123	---	---	---	---	C	35185970	A	C	35185970	3	2	19	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	33	35185970	67345422	65	1519			1	2		2	2	34	N	G_A	9.167214e-05
TTBK2	146057	broad.mit.edu	37	chr15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	agtagctagtttctcctctaGcaatttatcagaggcacttg	8	9	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.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		Somatic					p.L1003V	NM_173500.3	NP_775771.3	WXS	Illumina GAIIx	Phase_I	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	13	150	---	---	---	---	C	43044437	G	C	43044437	3	2	19	1	0	0	0	0	1	0	0	0	16674	962	34	4	735	4	TTBK2	15	43044437	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7858467	43044437	59486955	66	1520										
UNC13C	440279	broad.mit.edu	37	chr15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gacttccccactgctggccaGaccaaatcccccaaattttc	5	17	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.chr15:54305247G>T	ENST00000260323.11	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H|UNC13C_ENST00000545554.1_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		Somatic				UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H	p.Q49H			WXS	Illumina GAIIx	Phase_I	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	43	82	---	---	---	---	T	54305247	G	T	54305247	3	4	19	1	0	0	0	0	1	0	0	0	16983	933	33	3	149	3	UNC13C	15	54305247	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11260810	54305247	48226145	67	1521										
IGDCC3	9543	broad.mit.edu	37	chr15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ggccaaggctcccacagcagCtgcaaggaggagctgcccag	14	14	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.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		Somatic					p.Q538H	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	G	65623027	C	G	65623027	3	3	19	1	0	0	0	0	1	0	0	0	7568	796	28	4	850	4	IGDCC3	15	65623027	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11317780	65623027	36908365	68	1522										
C15orf44	81556	broad.mit.edu	37	chr15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ttcttcatctacaacaaaagGttctggcctggggaagactt	9	9	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.chr15:65890710G>C	ENST00000395644.4	-	6	1032	c.697C>G	c.(697-699)Cct>Gct	p.P233A	VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A			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		Somatic				VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A	p.P233A			WXS	Illumina GAIIx	Phase_I					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	47	100	---	---	---	---	C	65890710	G	C	65890710	3	2	19	1	0	0	0	0	1	0	0	0	1798	1261	44	4	887	4	C15orf44	15	65890710	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	267683	65890710	36640682	69	1523										
CSPG4	1464	broad.mit.edu	37	chr15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ggcgctccacggggaggccaGaggaggtgccaaggacctgg	19	11	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.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		Somatic					p.S599C	NM_001897.4	NP_001888.2	WXS	Illumina GAIIx	Phase_I	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	8	54	---	---	---	---	C	75981610	G	C	75981610	3	2	19	1	0	0	0	0	1	0	0	0	3960	942	33	4	5204	4	CSPG4	15	75981610	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	10090900	75981610	26549782	70	1524										
IQGAP1	8826	broad.mit.edu	37	chr15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgaaggcctgatcaccaggcTgcaggctcgctgccgtggat	14	12	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.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		Somatic				IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	p.L752Q	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	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	63	123	---	---	---	---	A	91016148	T	A	91016148	3	1	19	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	71	1525										
SLC5A2	6524	broad.mit.edu	37	chr16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cgaccccggcccgactcctaCcacctgctccggcaccccgt	8	23	0	0	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*		Somatic				AC026471.6_ENST00000565137.1_RNA	p.Y263*	NM_003041.3	NP_003032.1	WXS	Illumina GAIIx	Phase_I	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	10	89	---	---	---	---	G	31498984	C	G	31498984	4	3	19	1	0	0	0	0	0	1	0	0	14665	518	18	4	815	4	SLC5A2	16	31498984	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		31498984	58855769	72	1526										
LRRC36	55282	broad.mit.edu	37	chr16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atcgaagagaggattcaaatGgaaggacaatatccttgcca	10	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.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	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		Somatic				LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	p.W477S	NM_018296.5	NP_060766.5	WXS	Illumina GAIIx	Phase_I	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	25	238	---	---	---	---	C	67405081	G	C	67405081	3	2	19	1	0	0	0	0	1	0	0	0	8990	1357	47	4	1492	4	LRRC36	16	67405081	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	35906097	67405081	22949672	73	1527										
BCL6B	255877	broad.mit.edu	37	chr17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gcggagcccgttttaaccggCcagcaaacctgaaaacgcac	10	14	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.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		Somatic					p.P368A	NM_181844.3	NP_862827	WXS	Illumina GAIIx	Phase_I	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	8	103	---	---	---	---	G	6930071	C	G	6930071	3	3	19	1	0	0	0	0	1	0	0	0	1377	739	26	4	1124	4	BCL6B	17	6930071	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		6930071	74265139	74	1528										
FOXN1	8456	broad.mit.edu	37	chr17	26851604	26851604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ctgcccccacacagcccccgCattgcgtcaccagggcccga	9	21	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.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			Somatic				FOXN1_ENST00000579795.1_Silent_p.R69R	p.R69R	NM_003593.2	NP_003584.2	WXS	Illumina GAIIx	Phase_I	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	51	107	---	---	---	---	T	26851604	C	T	26851604	2	4	19	1	0	0	0	0	0	0	0	1	6019	697	25	2		2	FOXN1	17	26851604	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	19921533	26851604	54343606	75	1529										
GAS2L2	246176	broad.mit.edu	37	chr17	34072056	34072056	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gcctcccctcccttgctgccCagcacagctctcaacagcct	6	21	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.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			Somatic				GAS2L2_ENST00000587565.1_Silent_p.L804L	p.L820L	NM_139285.3	NP_644814.1	WXS	Illumina GAIIx	Phase_I	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	5	232	---	---	---	---	A	34072056	C	A	34072056	2	1	19	1	0	0	0	0	0	0	0	1	6247	581	21	1		1	GAS2L2	17	34072056	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7220452	34072056	47123154	76	1530										
CSF3	1440	broad.mit.edu	37	chr17	38172080	38172080	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	aagatccagggcgatggcgcAgcgctccaggagaagctggt	16	10	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.chr17:38172080A>G	ENST00000225474.2	+	2	208	c.177A>G	c.(175-177)gcA>gcG	p.A59A	CSF3_ENST00000331769.2_Silent_p.A55A|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Silent_p.A59A|CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A			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			Somatic				CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A	p.A55A			WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	G	38172080	A	G	38172080	2	3	19	1	0	0	0	0	0	0	0	1	3936	175	7	2		2	CSF3	17	38172080	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4100024	38172080	43023130	77	1531										
ACTG1	71	broad.mit.edu	37	chr17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cgtggtggtgaagctgtagcCtcgctcagtgaggatcttca	14	9	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.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S			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		Somatic				ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S	p.G197S			WXS	Illumina GAIIx	Phase_I	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	39	86	---	---	---	---	T	79478427	C	T	79478427	3	4	19	1	0	0	0	0	1	0	0	0	196	681	24	2	550	2	ACTG1	17	79478427	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	41306347	79478427	1716783	78	1532										
MUC16	94025	broad.mit.edu	37	chr19	9071591	9071592	+	Missense_Mutation	DNP	GG	GG	TT													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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.chr19:9071591_9071592GG>TT	ENST00000397910.4	-	3	16057_16058	c.15854_15855CC>AA	c.(15853-15855)cCC>cAA	p.P5285Q		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.P5285H(2)|p.P918H(1)|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						ATGTGTCCAAGGGAAGGGTACT	0.52																																						ENST00000397910.4																			6	Substitution - Missense(3)|Substitution - coding silent(3)	p.P5285P(2)|p.P918P(1)|p.P5285H(2)|p.P918H(1)	prostate(6)	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|c.(15853-15855)cCc>cAc		mucin 16, cell surface associated																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071591G>T|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.15854_15855delinsTT	19.37:g.9071591_9071592delinsTT	ENSP00000381008:p.Pro5285Gln		Somatic					p.P5285P|p.P5285H	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	16058|16057	-			5287			Thr-rich.		Q6ZQW5|Q96RK2	Silent|Missense_Mutation	SNP	ENST00000397910.4	37	c.15855C>A|c.15854C>A	CCDS54212.1																																																																																				0.52	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		43|44	118|117	43	117	---	---	---	---	TT	9071592	GG	TT	9071591	3	4	19	1	0	0	0	0	1	0	0	0	9973	987	35	1	27996	1	MUC16	19	9071591	Missense_Mutation	DNP	GG	TCGA-CH-5754-01A-11D-1576-08		9071591	50057392	79	1533										
FAM71E1	112703	broad.mit.edu	37	chr19	50979132	50979132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	atggggaagtcccgaaactgGtcgaattcgccgctctggag	14	10	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.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	FAM71E1_ENST00000595790.1_Silent_p.D106D|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000376918.3_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			Somatic				FAM71E1_ENST00000595790.1_Silent_p.D106D	p.D106D			WXS	Illumina GAIIx	Phase_I	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	12	48	---	---	---	---	A	50979132	G	A	50979132	2	1	19	1	0	0	0	0	0	0	0	1	5611	1252	44	2		2	FAM71E1	19	50979132	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	41907541	50979132	8149851	80	1534										
KLK1	3816	broad.mit.edu	37	chr19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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	CTD-2568A17.5_ENST00000326989.5_lincRNA|KLK1_ENST00000448701.2_Frame_Shift_Del_p.PNKP136fs	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)cccaataagcctfs		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		Somatic				KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs	p.PNKP136fs			WXS	Illumina GAIIx	Phase_I	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	19	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	81	1535										
BANF2	140836	broad.mit.edu	37	chr20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	tgaggcccagcagacttctcActgcctcaaggagtggtgtg	13	11	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.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000377805.3_Missense_Mutation_p.H80P|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Missense_Mutation_p.H87P	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		Somatic				BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P	p.H80P	NM_178477.4	NP_848572.3	WXS	Illumina GAIIx	Phase_I	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	37	86	---	---	---	---	C	17716422	A	C	17716422	3	2	19	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	82	1536										
SLC35C2	51006	broad.mit.edu	37	chr20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	gtactcctcctcctcattgtCaccttcctcccgctggctgc	6	19	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.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y|SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y	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		Somatic				SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y	p.D352Y	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	WXS	Illumina GAIIx	Phase_I	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	33	135	---	---	---	---	A	44979077	C	A	44979077	3	1	19	1	0	0	0	0	1	0	0	0	14580	826	29	3	47	3	SLC35C2	20	44979077	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	27262655	44979077	18046443	83	1537										
TPTE	7179	broad.mit.edu	37	chr21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ttgcagttgaacatatttcaGaggcaataaggaaggcacaa	10	6	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.chr21:10921956G>C	ENST00000361285.4	-	18	1396	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S338C|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		Somatic				TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C	p.S338C	NM_199259.2	NP_954868	WXS	Illumina GAIIx	Phase_I	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	28	170	---	---	---	---	C	10921956	G	C	10921956	3	2	19	1	0	0	0	0	1	0	0	0	16427	942	33	4	616	4	TPTE	21	10921956	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		10921956	37207939	84	1538										
RIMBP3	85376	broad.mit.edu	37	chr22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	cctgaccatctggcacagccCtctgtccaccactccctggg	8	19	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.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_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		Somatic					p.G943R	NM_015672.1	NP_056487.1	WXS	Illumina GAIIx	Phase_I			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	19	84	---	---	---	---	T	20458475	C	T	20458475	3	4	19	1	0	0	0	0	1	0	0	0	13364	681	24	2	2096	2	RIMBP3	22	20458475	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		20458475	30846091	85	1539										
SGSM1	129049	broad.mit.edu	37	chr22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-													0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	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)gtcctggacaaaattgtgcattac>gtc		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		Somatic	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.LDKIVHY140del	p.LDKIVHY140del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	WXS	Illumina GAIIx	Phase_I	Q2NKQ1	SGSM1_HUMAN			5	474_494	+			140			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	19	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	86	1540										
PKDREJ	10343	broad.mit.edu	37	chr22	46658215	46658215	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0930232558139535	8	1	1.39242345614946	1.78404255319149	1.01945288753799	0.672768878718535	1	0	ccaagcatcaccgcctgcagGgaactcctgacgatccagac	9	16	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.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			Somatic					p.S335S	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	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	50	196	---	---	---	---	T	46658215	G	T	46658215	2	4	19	1	0	0	0	0	0	0	0	1	11970	1219	43	1		1	PKDREJ	22	46658215	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	21411854	46658215	4646351	87	1541										
EFCAB7	84455	broad.mit.edu	37	chr1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tcaaaacatctgtttccttcAcagttaccatgggggctaat	7	10	3	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.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		Somatic					p.T248P	NM_032437.2	NP_115813.2	WXS	Illumina GAIIx	Phase_I	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	64	121	---	---	---	---	C	63999825	A	C	63999825	3	2	20	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	1542										
DPYD	1806	broad.mit.edu	37	chr1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	attttgttctttcagtctaaTcttgttttctgctatgattt	5	6	5	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.chr1:97564128T>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		Somatic				DPYD-AS1_ENST00000422980.1_RNA	p.I895V	NM_000110.3	NP_000101	WXS	Illumina GAIIx	Phase_I	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	68	131	---	---	---	---	C	97564128	T	C	97564128	3	2	20	1	0	0	0	0	1	0	0	0	4745	1435	50	2	406	2	DPYD	1	97564128	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	33564303	97564128	151686493	2	1543										
TSPAN2	10100	broad.mit.edu	37	chr1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ttcatacatggtctgaacatGtcggatagcctgaagaaata	9	7	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.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000491992.1_5'Flank|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		Somatic				TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N	p.H119N	NM_005725.4	NP_005716.2	WXS	Illumina GAIIx	Phase_I	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	6	325	---	---	---	---	T	115601593	G	T	115601593	3	4	20	1	0	0	0	0	1	0	0	0	16641	1377	48	3	326	3	TSPAN2	1	115601593	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	18037465	115601593	133649028	3	1544										
CHD1L	9557	broad.mit.edu	37	chr1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gtggatgaagctcacaggttGaaaaaccaaagctccctgct	10	10	1	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.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|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		Somatic				CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F	p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	WXS	Illumina GAIIx	Phase_I	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	152	308	---	---	---	---	T	146731533	G	T	146731533	3	4	20	1	0	0	0	0	1	0	0	0	3324	1281	45	3	559	3	CHD1L	1	146731533	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	31129940	146731533	102519088	4	1545										
HMCN1	83872	broad.mit.edu	37	chr1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	aacagacaagtgacattggaAtgcaagtcagatgcagtgcc	11	8	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.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		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	p.E3642D	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	3	139	---	---	---	---	C	186077666	A	C	186077666	3	2	20	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	1546										
CFH	3075	broad.mit.edu	37	chr1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	cagacattaaacatggaggtCtatatcatgagaatatgcgt	9	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.chr1:196658588C>G	ENST00000359637.2	+	7	873	c.811C>G	c.(811-813)Cta>Gta	p.L271V	CFH_ENST00000367429.4_Missense_Mutation_p.L335V|CFH_ENST00000439155.2_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		Somatic				CFH_ENST00000359637.2_Missense_Mutation_p.L271V|CFH_ENST00000439155.2_Missense_Mutation_p.L335V	p.L335V	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	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	9	150	---	---	---	---	G	196658588	C	G	196658588	3	3	20	1	0	0	0	0	1	0	0	0	3283	912	32	4	1033	4	CFH	1	196658588	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10580922	196658588	52592033	6	1547										
C1orf116	79098	broad.mit.edu	37	chr1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tctcagttgaaaggtagctgCtcagtcccacgcctgagcgc	11	13	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		Somatic				C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	p.S492I	NM_023938.5	NP_076427.2	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	A	207195634	C	A	207195634	3	1	20	1	0	0	0	0	1	0	0	0	1989	797	28	3	334	3	C1orf116	1	207195634	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10537046	207195634	42054987	7	1548										
TARBP1	6894	broad.mit.edu	37	chr1	234556448	234556448	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	atataataaaaatatgatacCtggtcaagtctagggaaaag	8	4	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.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.(3553-3555)caG>caA		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			Somatic					p.Q1185Q	NM_005646.3	NP_005637.3	WXS	Illumina GAIIx	Phase_I	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.3555G>A	CCDS1601.1																																																																																				0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Silent	49	96	49	96	---	---	---	---	T	234556448	C	T	234556448	5	4	20	1	0	0	0	0	0	0	1	0	15552	695	24	2	1350	2	TARBP1	1	234556448	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	27360814	234556448	14694173	8	1549										
PDIA6	10130	broad.mit.edu	37	chr2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gaggcgatccttcacgagctGgcgcagagcactcagcgcag	14	13	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.chr2:10933278G>C	ENST00000272227.3	-	5	544	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404371.2_Missense_Mutation_p.Q185E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|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		Somatic				PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E	p.Q185E	NM_001282704.1	NP_001269633.1	WXS	Illumina GAIIx	Phase_I	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	18	68	---	---	---	---	C	10933278	G	C	10933278	3	2	20	1	0	0	0	0	1	0	0	0	11672	1357	47	4	961	4	PDIA6	2	10933278	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		10933278	232266095	9	1550										
RAB3GAP1	22930	broad.mit.edu	37	chr2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ccggtgcaggaagaggacatGctggcaggatcattcacaag	14	9	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_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000487003.1_3'UTR	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		Somatic				RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000487003.1_3'UTR	p.A890T	NM_012233.2	NP_036365.1	WXS	Illumina GAIIx	Phase_I	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	20	44	---	---	---	---	A	135922225	G	A	135922225	3	1	20	1	0	0	0	0	1	0	0	0	12935	1319	46	2	2758	2	RAB3GAP1	2	135922225	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	124988947	135922225	107277148	10	1551										
ERBB4	2066	broad.mit.edu	37	chr2	212251657	212251657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gggctccgttctggggcaaaCacggtggggtcagcactgta	16	10	2	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.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000402597.1_Silent_p.V1124V|ERBB4_ENST00000436443.1_Silent_p.V1118V	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)	Somatic				ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	p.V1134V	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	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	54	124	---	---	---	---	A	212251657	C	A	212251657	2	1	20	1	0	0	0	0	0	0	0	1	5209	465	17	3		3	ERBB4	2	212251657	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	76329432	212251657	30947716	11	1552										
RHBDD1	84236	broad.mit.edu	37	chr2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	aatatggcatccatgctctgGaaaggaataaatctagaaag	9	6	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.chr2:227729679G>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*		Somatic				RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	p.W90*	NM_001167608.1	NP_001161080.1	WXS	Illumina GAIIx	Phase_I	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	7	329	---	---	---	---	A	227729679	G	A	227729679	4	1	20	1	0	0	0	0	0	1	0	0	13316	1183	41	2	272	2	RHBDD1	2	227729679	Nonsense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	15478022	227729679	15469694	12	1553			1	3		2	2	24	G		4.011969e-05
RHBDD1	84236	broad.mit.edu	37	chr2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	aggaataaatctagaaagaaGactgggaagtagatggtttg	13	2	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.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		Somatic				RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	p.R98T	NM_001167608.1	NP_001161080.1	WXS	Illumina GAIIx	Phase_I	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	8	330	---	---	---	---	C	227729702	G	C	227729702	3	2	20	1	0	0	0	0	1	0	0	0	13316	942	33	4	295	4	RHBDD1	2	227729702	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	23	227729702	15469671	13	1554			1	3		2	2	24	G		4.011969e-05
PASK	23178	broad.mit.edu	37	chr2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tcgccaccacaagccccattCactcccatagcaagggcagt	7	17	1	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.chr2:242066484C>A	ENST00000405260.1	-	10	2544	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000403638.3_Nonsense_Mutation_p.E616*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000358649.4_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*		Somatic				PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	p.E616*	NM_001252124.1	NP_001239053.1	WXS	Illumina GAIIx	Phase_I	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	4	156	---	---	---	---	A	242066484	C	A	242066484	4	1	20	1	0	0	0	0	0	1	0	0	11472	835	29	3	2161	3	PASK	2	242066484	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	14336782	242066484	1132889	14	1555										
CNTN4	152330	broad.mit.edu	37	chr3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ctgcaatcattcattttgtgCcttgcaggtagagtgtcatt	9	8	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.chr3:2613235C>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*		Somatic				CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*	p.C16*	NM_001206955.1	NP_001193884.1	WXS	Illumina GAIIx	Phase_I	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	66	111	---	---	---	---	A	2613235	C	A	2613235	4	1	20	1	0	0	0	0	0	1	0	0	3643	747	26	3	50	3	CNTN4	3	2613235	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		2613235	195409195	15	1556										
SETD5	55209	broad.mit.edu	37	chr3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ctgaagcacagaatttagatGagaatacaactgagggctgg	12	6	0	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.chr3:9482170G>A	ENST00000406341.1	+	7	788	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000402466.1_Missense_Mutation_p.E102K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K			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		Somatic				SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K	p.E102K			WXS	Illumina GAIIx	Phase_I	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	15	39	---	---	---	---	A	9482170	G	A	9482170	3	1	20	1	0	0	0	0	1	0	0	0	14134	1291	45	2	620	2	SETD5	3	9482170	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	6868935	9482170	188540260	16	1557			2	4		4	3	93	N	G	1.273591e-08
SETD5	55209	broad.mit.edu	37	chr3	9482199	9482199	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	actgagggctgggaaaatcgGataagactatggactgacca	13	7	0	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.chr3:9482199G>A	ENST00000406341.1	+	7	817	c.627G>A	c.(625-627)cgG>cgA	p.R209R	SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000402466.1_Silent_p.R111R|SETD5_ENST00000402198.1_Silent_p.R209R			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			Somatic				SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000406341.1_Silent_p.R209R	p.R111R			WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	A	9482199	G	A	9482199	2	1	20	1	0	0	0	0	0	0	0	1	14134	1161	41	2		2	SETD5	3	9482199	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	29	9482199	188540231	17	1558			2	4		4	3	93	N	G	1.273591e-08
SETD5	55209	broad.mit.edu	37	chr3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A													0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	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_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000402466.1_Missense_Mutation_p.D130N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N			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		Somatic				SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N	p.D130N			WXS	Illumina GAIIx	Phase_I	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	8	55	---	---	---	---	A	9482254	G	A	9482254	3	1	20	1	0	0	0	0	1	0	0	0	14134	942	33	2	704	2	SETD5	3	9482254	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	55	9482254	188540176	18	1559	4	2	2	4		4	3	93	N	G	1.273591e-08
SETD5	55209	broad.mit.edu	37	chr3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C													0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	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_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q132H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H			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		Somatic				SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H	p.Q132H			WXS	Illumina GAIIx	Phase_I	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	11	53	---	---	---	---	C	9482262	G	C	9482262	3	2	20	1	0	0	0	0	1	0	0	0	14134	933	33	4	712	4	SETD5	3	9482262	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	8	9482262	188540168	19	1560	4	2	2	4		4	3	93	N	G	1.273591e-08
SR140	23350	broad.mit.edu	37	chr3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gaaatccccatcaccaaaatCggagcgatcagagcgttcag	9	12	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		Somatic				U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L|U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L	p.S542L			WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	T	142773862	C	T	142773862	3	4	20	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	133291600	142773862	55248568	20	1561										
ZIC1	7545	broad.mit.edu	37	chr3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ggcgcttcgctaacagcagcGaccgcaagaagcacatgcac	11	14	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.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		Somatic					p.D348N	NM_003412.3	NP_003403.2	WXS	Illumina GAIIx	Phase_I	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	39	208	---	---	---	---	A	147130364	G	A	147130364	3	1	20	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	21	1562										
AADAC	13	broad.mit.edu	37	chr3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	atttctgggacttaaaattaGtcacagacttataaatcagt	6	6	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.chr3:151545911G>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)	ENST00000232892.7																			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		Somatic				RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.S384I	NM_001086.2	NP_001077.2	WXS	Illumina GAIIx	Phase_I	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)						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	59	111	---	---	---	---	T	151545911	G	T	151545911	3	4	20	1	0	0	0	0	1	0	0	0	10	1029	36	3	1169	3	AADAC	3	151545911	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4415547	151545911	46476519	22	1563										
CLGN	1047	broad.mit.edu	37	chr4	141317358	141317358	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ttgggcaggttcactttcatCcctgtaaatacaacgtttta	7	9	2	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.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.886G>A	c.(886-888)Gat>Aat	p.D296N	CLGN_ENST00000537281.1_Splice_Site_p.D296N|CLGN_ENST00000414773.1_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.(886-888)Gat>Aat		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			Somatic				CLGN_ENST00000414773.1_Splice_Site_p.D296N|CLGN_ENST00000537281.1_Splice_Site_p.D296N	p.D296N	NM_004362.2	NP_004353.1	WXS	Illumina GAIIx	Phase_I	O14967	CLGN_HUMAN			9	1326	-	all_hematologic(180;0.162)		296					B3KS90|B4DXV8|D3DNY8	Splice_Site	SNP	ENST00000325617.5	37	c.886G>A	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	63	246	---	---	---	---	T	141317358	C	T	141317358	5	4	20	1	0	0	0	0	0	0	1	0	3524	869	30	2	974	2	CLGN	4	141317358	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08		141317358	49836918	23	1564										
FGA	2243	broad.mit.edu	37	chr4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	aacagtcttagtaacggtttTagagcatgaacgacgcgtgg	12	7	1	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.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		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	p.K463Q	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	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	133	312	---	---	---	---	G	155507194	T	G	155507194	3	3	20	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	24	1565										
ARAP3	64411	broad.mit.edu	37	chr5	141052581	141052581	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	agggggctgtggccctcaccCtcgctctctgtgcggaacac	13	15	2	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.chr5:141052581C>A	ENST00000239440.4	-	7	1157	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	ARAP3_ENST00000513878.1_Splice_Site_p.E26D|ARAP3_ENST00000508305.1_Splice_Site_p.E286D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	364	PH 1. {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)	p.E364D(1)		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						GGCCCTCACCCTCGCTCTCTG	0.607																																						ENST00000239440.4																			1	Substitution - Missense(1)	p.E364D(1)	prostate(1)	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.(1090-1092)gaG>gaT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							119	82	95					5																	141052581		2203	4300	6503	SO:0001630	splice_region_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.chr5:141052581C>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.1093+1G>T	5.37:g.141052581C>A			Somatic				ARAP3_ENST00000513878.1_Splice_Site_p.E26D|ARAP3_ENST00000508305.1_Splice_Site_p.E286D	p.E364D	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			7	1157	-			364			PH 1.		B4DIT1|D3DQE3	Splice_Site	SNP	ENST00000239440.4	37	c.1092G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605110	0.14002	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.76578	2.72;-1.03;2.53;-1.03	4.23	1.16	0.20824	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.33710	1.025	0.37251	D	0.90657	B;B;B	0.26318	0.046;0.126;0.146	B;B;B	0.29524	0.103;0.05;0.048	T	0.53222	-0.8469	10	0.19147	T	0.46	.	8.1803	0.31307	0.0:0.6836:0.0:0.3164	.	26;286;364	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	D	283;286;364;26;364	ENSP00000421826:E286D;ENSP00000239440:E364D;ENSP00000421468:E26D;ENSP00000421148:E364D	ENSP00000239440:E364D	E	-	3	2	ARAP3	141032765	1.000000	0.71417	0.999000	0.59377	0.267000	0.26476	0.635000	0.24629	0.422000	0.26005	0.462000	0.41574	GAG		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	Missense_Mutation	3	37	3	37	---	---	---	---	A	141052581	C	A	141052581	5	1	20	1	0	0	0	0	0	0	1	0	840	695	24	1	3650	1	ARAP3	5	141052581	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08		141052581	39862679	25	1566										
DEK	7913	broad.mit.edu	37	chr6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	cttaccttgtgcaattgtaaAtggctctctctgtaaggaag	9	8	2	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.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		Somatic				DEK_ENST00000244776.7_Intron	p.F78V	NM_003472.3	NP_003463.1	WXS	Illumina GAIIx	Phase_I	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	56	186	---	---	---	---	C	18258550	A	C	18258550	3	2	20	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	26	1567										
INTS1	26173	broad.mit.edu	37	chr7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tgcccaggttgtccttgtgcGcgctcagcagctccctgggt	13	14	1	0	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		Somatic				INTS1_ENST00000404767.3_Missense_Mutation_p.A433V	p.A561V			WXS	Illumina GAIIx	Phase_I	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	18	22	---	---	---	---	A	1538175	G	A	1538175	3	1	20	1	0	0	0	0	1	0	0	0	7775	1087	38	2	5430	2	INTS1	7	1538175	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		1538175	157600488	27	1568										
KCND2	3751	broad.mit.edu	37	chr7	120381668	120381668	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	agcaaacggaatggtttactCagtaatcagctgcaggtaca	10	8	2	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.chr7:120381668C>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			Somatic					p.L453L	NM_012281.2	NP_036413.1	WXS	Illumina GAIIx	Phase_I	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	30	48	---	---	---	---	A	120381668	C	A	120381668	2	1	20	1	0	0	0	0	0	0	0	1	8019	813	29	3		3	KCND2	7	120381668	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	118843493	120381668	38756995	28	1569										
MGAM	8972	broad.mit.edu	37	chr7	141754596	141754596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ggtatgaagttccagtccctCtgaacatacccagcatgcca	8	13	1	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.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			Somatic				MGAM_ENST00000549489.2_Silent_p.L1068L	p.L1068L			WXS	Illumina GAIIx	Phase_I	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	118	84	---	---	---	---	T	141754596	C	T	141754596	2	4	20	1	0	0	0	0	0	0	0	1	9541	912	32	2		2	MGAM	7	141754596	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	21372928	141754596	17384067	29	1570										
C5	727	broad.mit.edu	37	chr9	123805397	123805397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tttgatacaacttccaaataCacataagaaactgggttttg	6	7	0	2	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			Somatic					p.V102V	NM_001735.2	NP_001726.2	WXS	Illumina GAIIx	Phase_I	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	23	80	---	---	---	---	T	123805397	C	T	123805397	2	4	20	1	0	0	0	0	0	0	0	1	2280	465	17	2		2	C5	9	123805397	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08		123805397	17408034	30	1571										
GAPVD1	26130	broad.mit.edu	37	chr9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-													0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	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_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.A1366fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs			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)gccfs		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		Somatic				GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs	p.A1366fs			WXS	Illumina GAIIx	Phase_I	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	20	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	31	1572										
HARBI1	283254	broad.mit.edu	37	chr11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tgcagtgcccccttggatccAtccaggcagcggaatcggga	13	13	0	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.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		Somatic					p.D275E	NM_173811.3	NP_776172.1	WXS	Illumina GAIIx	Phase_I	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	15	33	---	---	---	---	C	46625305	A	C	46625305	3	2	20	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	32	1573										
FZD4	8322	broad.mit.edu	37	chr11	86662613	86662613	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ccaatgaccaaataagtaaaGaggggagccaccacgaaccc	9	12	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.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_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			Somatic				PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.L395L	NM_012193.3	NP_036325.2	WXS	Illumina GAIIx	Phase_I	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	8	182	---	---	---	---	A	86662613	G	A	86662613	2	1	20	1	0	0	0	0	0	0	0	1	6132	929	33	2		2	FZD4	11	86662613	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	40037308	86662613	48343903	33	1574			3	5		5	5	618	N	G_-	5.531958e-14
FZD4	8322	broad.mit.edu	37	chr11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gaacccggtgagggcatcgaGattttggtttccaacatagc	12	9	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.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_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		Somatic				PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.L384F	NM_012193.3	NP_036325.2	WXS	Illumina GAIIx	Phase_I	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	10	150	---	---	---	---	A	86662648	G	A	86662648	3	1	20	1	0	0	0	0	1	0	0	0	6132	942	33	2	467	2	FZD4	11	86662648	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	35	86662648	48343868	34	1575			3	5		5	5	618	N	G_-	5.531958e-14
FZD4	8322	broad.mit.edu	37	chr11	86662880	86662880	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ccaaaaaagtacatcagcaaGaaaattattgcacatcctgt	5	9	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.chr11:86662880G>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			Somatic				PRSS23_ENST00000533902.2_3'UTR	p.F306F	NM_012193.3	NP_036325.2	WXS	Illumina GAIIx	Phase_I	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	3	86	---	---	---	---	A	86662880	G	A	86662880	2	1	20	1	0	0	0	0	0	0	0	1	6132	933	33	2		2	FZD4	11	86662880	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	232	86662880	48343636	35	1576			3	5		5	5	618	N	G_-	5.531958e-14
FZD4	8322	broad.mit.edu	37	chr11	86663024	86663024	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	taaatattatagcacatactGagaaatatgatggggcgctc	9	6	0	2	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			Somatic				PRSS23_ENST00000533902.2_3'UTR	p.L258L	NM_012193.3	NP_036325.2	WXS	Illumina GAIIx	Phase_I	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	7	61	---	---	---	---	A	86663024	G	A	86663024	2	1	20	1	0	0	0	0	0	0	0	1	6132	1277	45	2		2	FZD4	11	86663024	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	144	86663024	48343492	36	1577			3	5		5	5	618	N	G_-	5.531958e-14
FZD4	8322	broad.mit.edu	37	chr11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T													0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	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)gatcagfs		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		Somatic				PRSS23_ENST00000533902.2_3'UTR	p.Q190fs	NM_012193.3	NP_036325.2	WXS	Illumina GAIIx	Phase_I	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	20	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	37	1578			3	5		5	5	618	N	G_-	5.531958e-14
PATE2	399967	broad.mit.edu	37	chr11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gacagttttgaataatgataCatgctctgccctgaggaggt	11	7	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.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		Somatic				PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	p.M72I	NM_212555.2	NP_997720.1	WXS	Illumina GAIIx	Phase_I	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	33	100	---	---	---	---	T	125647403	C	T	125647403	3	4	20	1	0	0	0	0	1	0	0	0	11474	478	17	2	129	2	PATE2	11	125647403	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	38984173	125647403	9359113	38	1579										
VWF	7450	broad.mit.edu	37	chr12	6153556	6153556	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	cactcgagcccttcagcccgCaggttgtcagcgggacacac	11	16	2	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.chr12:6153556C>A	ENST00000261405.5	-	18	2597	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	781	Amino-terminal.|TIL 3.				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.L781L(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)	CTTCAGCCCGCAGGTTGTCAG	0.577																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.L781L(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.(2341-2343)ctG>ctT		von Willebrand factor	Antihemophilic Factor(DB00025)						89	74	79					12																	6153556		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.chr12:6153556C>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.2343G>T	12.37:g.6153556C>A			Somatic					p.L781L	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2597	-			781			Amino-terminal.|TIL 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2343G>T	CCDS8539.1																																																																																				0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	50	3	50	---	---	---	---	A	6153556	C	A	6153556	2	1	20	1	0	0	0	0	0	0	0	1	17243	697	25	3		3	VWF	12	6153556	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08		6153556	127698339	39	1580										
SLC5A8	160728	broad.mit.edu	37	chr12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	cacccccgttgccactaccgCgccccacagatcaaatcctg	6	20	1	1	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		Somatic					p.A165T	NM_145913.3	NP_666018.3	WXS	Illumina GAIIx	Phase_I	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	29	38	---	---	---	---	T	101588917	C	T	101588917	3	4	20	1	0	0	0	0	1	0	0	0	14671	768	27	2	1387	2	SLC5A8	12	101588917	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	95435361	101588917	32262978	40	1581										
PPP2R5E	5529	broad.mit.edu	37	chr14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ctctttttgactacatgtttTaggccaaaatttcattaacc	4	9	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.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|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		Somatic				PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E	p.K312E	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	WXS	Illumina GAIIx	Phase_I	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	40	97	---	---	---	---	C	63858555	T	C	63858555	3	2	20	1	0	0	0	0	1	0	0	0	12396	1763	61	2	489	2	PPP2R5E	14	63858555	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08		63858555	43490985	41	1582										
FAM82A2	55177	broad.mit.edu	37	chr15	41036294	41036294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	acctcctcagtgagctcacaCatgtcactgtaggctcgggc	10	14	3	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		Somatic				RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron	p.M287I			WXS	Illumina GAIIx	Phase_I					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	4	143	---	---	---	---	T	41036294	C	T	41036294	3	4	20	1	0	0	0	0	1	0	0	0	5631	478	17	2	583	2	FAM82A2	15	41036294	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		41036294	61495098	42	1583										
SPATA5L1	79029	broad.mit.edu	37	chr15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	caggcgctcctggcctggtgGctgccttgcacatcgtcggc	14	15	0	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.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T|GATM_ENST00000458245.5_5'Flank	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		Somatic				SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	p.A161T	NM_024063.2	NP_076968.2	WXS	Illumina GAIIx	Phase_I	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	7	37	---	---	---	---	A	45695108	G	A	45695108	3	1	20	1	0	0	0	0	1	0	0	0	15011	1203	42	2	483	2	SPATA5L1	15	45695108	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4658814	45695108	56836284	43	1584										
MYO1E	4643	broad.mit.edu	37	chr15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	caccactgtgcttgacattgTggctttgccagtggtactgg	12	10	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.chr15:59564611T>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		Somatic					p.H14P	NM_004998.3	NP_004989.2	WXS	Illumina GAIIx	Phase_I	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	62	131	---	---	---	---	G	59564611	T	G	59564611	3	3	20	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	13869503	59564611	42966781	44	1585										
VPS33B	26276	broad.mit.edu	37	chr15	91549291	91549291	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tccgaatctcattaaacaccTgtgaggacagtaagacaaga	8	9	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.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			Somatic				VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site		NM_018668.3	NP_061138.3	WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	A	91549291	T	A	91549291	5	1	20	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	45	1586										
ITFG1	81533	broad.mit.edu	37	chr16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-													0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	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	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_3'UTR|RP11-329J18.2_ENST00000565694.1_RNA	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)gaafs		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		Somatic				ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR	p.E599fs	NM_030790.3	NP_110417.2	WXS	Illumina GAIIx	Phase_I	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	20	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		47189674	43165079	46	1587			4	6		2	2	17	N	C	2.790952e-05
ITFG1	81533	broad.mit.edu	37	chr16	47189690	47189690	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ttttctctatcatctgctttCtgaaaaagaattttagactc	4	8	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.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|RP11-329J18.2_ENST00000565694.1_RNA	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			Somatic				ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site		NM_030790.3	NP_110417.2	WXS	Illumina GAIIx	Phase_I	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	132	275	---	---	---	---	A	47189690	C	A	47189690	5	1	20	1	0	0	0	0	0	0	1	0	7869	927	32	3	63	3	ITFG1	16	47189690	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	16	47189690	43165063	47	1588			4	6		2	2	17	N	C	2.790952e-05
HOXB2	3212	broad.mit.edu	37	chr17	46622154	46622154	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ggaggaggaggaattaatgtCgactccttgattgatgaagt	14	4	0	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	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_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			Somatic				HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.S40S	NM_002145.3	NP_002136.1	WXS	Illumina GAIIx	Phase_I	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	11	126	---	---	---	---	G	46622154	C	G	46622154	2	3	20	1	0	0	0	0	0	0	0	1	7301	871	31	4		4	HOXB2	17	46622154	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08		46622154	34573056	48	1589										
KIAA0802	23255	broad.mit.edu	37	chr18	8798101	8798101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	cctgcctgtttcagggtgaaCatccagagaccctctccagg	10	14	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.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_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N														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		Somatic				SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N	p.H750N	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	A	8798101	C	A	8798101	3	1	20	1	0	0	0	0	1	0	0	0	8194	478	17	3	2278	3	KIAA0802	18	8798101	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		8798101	69279147	49	1590										
SERPINB2	5055	broad.mit.edu	37	chr18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	attcaagcatctggcaaaagCaagccccacccagaacctct	6	15	3	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		Somatic				SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	p.A22G	NM_001143818.1	NP_001137290.1	WXS	Illumina GAIIx	Phase_I	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	41	36	---	---	---	---	G	61558743	C	G	61558743	3	3	20	1	0	0	0	0	1	0	0	0	14101	710	25	4	67	4	SERPINB2	18	61558743	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	52760642	61558743	16518505	50	1591										
DUS3L	56931	broad.mit.edu	37	chr19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	tgcggctcagcagctcggcaCacttggtcatggtgtcgggg	16	11	2	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.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	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		Somatic				DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	p.C377Y	NM_020175.2	NP_064560.2	WXS	Illumina GAIIx	Phase_I	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	64	139	---	---	---	---	T	5787682	C	T	5787682	3	4	20	1	0	0	0	0	1	0	0	0	4807	478	17	2	854	2	DUS3L	19	5787682	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		5787682	53341301	51	1592										
EMR3	84658	broad.mit.edu	37	chr19	14758071	14758071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ccaatagcagcactcacaacCtgagagttcagatacacttg	7	12	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.chr19:14758071C>A	ENST00000253673.5	-	8	904	c.804G>T	c.(802-804)caG>caT	p.Q268H	EMR3_ENST00000599900.1_Missense_Mutation_p.Q53H|EMR3_ENST00000344373.4_Missense_Mutation_p.Q216H|EMR3_ENST00000443157.2_Missense_Mutation_p.Q142H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	268					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						CACTCACAACCTGAGAGTTCA	0.423																																						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.(802-804)caG>caT		egf-like module containing, mucin-like, hormone receptor-like 3							203	164	177					19																	14758071		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14758071C>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.804G>T	19.37:g.14758071C>A	ENSP00000253673:p.Gln268His		Somatic				EMR3_ENST00000443157.2_Missense_Mutation_p.Q142H|EMR3_ENST00000344373.4_Missense_Mutation_p.Q216H|EMR3_ENST00000599900.1_Missense_Mutation_p.Q53H	p.Q268H	NM_032571.3	NP_115960.2	WXS	Illumina GAIIx	Phase_I	Q9BY15	EMR3_HUMAN			8	904	-			268						Missense_Mutation	SNP	ENST00000253673.5	37	c.804G>T	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.802679	0.00611	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.40225	1.04;2.96;2.96	3.94	-3.64	0.04515	.	.	.	.	.	T	0.15696	0.0378	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.17979	0.02;0.012;0.003	T	0.19192	-1.0313	9	0.26408	T	0.33	.	1.4117	0.02292	0.1546:0.3534:0.2765:0.2155	.	142;216;268	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	H	142;268;216	ENSP00000396208:Q142H;ENSP00000253673:Q268H;ENSP00000340758:Q216H	ENSP00000253673:Q268H	Q	-	3	2	EMR3	14619071	0.001000	0.12720	0.566000	0.28421	0.007000	0.05969	-0.774000	0.04684	-0.478000	0.06823	-0.178000	0.13098	CAG		0.423	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		5	294	5	294	---	---	---	---	A	14758071	C	A	14758071	3	1	20	1	0	0	0	0	1	0	0	0	5106	680	24	1	1190	1	EMR3	19	14758071	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	8970389	14758071	44370912	52	1593										
SRMS	6725	broad.mit.edu	37	chr20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	aagacacgataattggccgcCtcaggcgctgtccacttgac	10	13	1	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.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		Somatic					p.E396D	NM_080823.2	NP_543013.1	WXS	Illumina GAIIx	Phase_I	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	45	229	---	---	---	---	G	62172641	C	G	62172641	3	3	20	1	0	0	0	0	1	0	0	0	15151	680	24	4	286	4	SRMS	20	62172641	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		62172641	852879	53	1594										
GPR174	84636	broad.mit.edu	37	chrX	78426887	78426887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	gtacccctttcgcttccatgActgcaaacagaaatatgacc	6	13	0	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.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)	Somatic					p.D128G	NM_032553.1	NP_115942.1	WXS	Illumina GAIIx	Phase_I	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	124	63	---	---	---	---	G	78426887	A	G	78426887	3	3	20	1	0	0	0	0	1	0	0	0	6672	275	10	2	385	2	GPR174	23	78426887	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		78426887	76843673	54	1595										
PNMA5	114824	broad.mit.edu	37	chrX	152158951	152158951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	8	0.853525798085268	2.08267922553637	2.2562358276644	2.03061224489796	0.193027325346615	1	0	ttctcccctagtgctttcacTgcctaacagccgcctgcgtt	7	16	2	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.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_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		Somatic				PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R	p.S398R	NM_001103150.1	NP_001096620.1	WXS	Illumina GAIIx	Phase_I	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	74	42	---	---	---	---	G	152158951	T	G	152158951	3	3	20	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	73732064	152158951	3111609	55	1596										
KIF1B	23095	broad.mit.edu	37	chr1	10292482	10292482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tgcatcattcagatgcaaggCaactcgaccagtgagtacat	9	10	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.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377093.4_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			Somatic				KIF1B_ENST00000377081.1_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G	p.G32G			WXS	Illumina GAIIx	Phase_I	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	6	28	---	---	---	---	T	10292482	C	T	10292482	2	4	21	1	0	0	0	0	0	0	0	1	8284	697	25	2		2	KIF1B	1	10292482	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		10292482	238958139	1	1597										
MASP2	10747	broad.mit.edu	37	chr1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tccatcagcctcacacacatAtttacctgcaaatcattgga	4	13	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.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		Somatic				RP4-635E18.8_ENST00000607145.1_RNA	p.Y410N	NM_006610.3	NP_006601.2	WXS	Illumina GAIIx	Phase_I	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	23	139	---	---	---	---	T	11090302	A	T	11090302	3	4	21	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	1598										
HTR6	3362	broad.mit.edu	37	chr1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ggaaggccctgaaggccagcCtgacgctgggcatcctgctg	15	13	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.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		Somatic					p.L268M	NM_000871.1	NP_000862.1	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	A	20005147	C	A	20005147	3	1	21	1	0	0	0	0	1	0	0	0	7451	680	24	1	808	1	HTR6	1	20005147	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8914845	20005147	229245474	3	1599										
ZSWIM5	57643	broad.mit.edu	37	chr1	45484152	45484152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aaagcgctctcgcaccagcaGcatcaactttttcttgcctt	6	14	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	5	243	---	---	---	---	A	45484152	G	A	45484152	2	1	21	1	0	0	0	0	0	0	0	1	18241	962	34	2		2	ZSWIM5	1	45484152	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	25479005	45484152	203766469	4	1600										
GSTM2	2946	broad.mit.edu	37	chr1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_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		Somatic				GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I	p.S201I	NM_000848.3	NP_000839.1	WXS	Illumina GAIIx	Phase_I				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	20	137	---	---	---	---	T	110217403	G	T	110217403	3	4	21	1	0	0	0	0	1	0	0	0	6838	971	34	3	632	3	GSTM2	1	110217403	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	64733251	110217403	139033218	5	1601	5	2								
GSTM2	2946	broad.mit.edu	37	chr1	110217413	110217413	+	Silent	SNP	C	C	G													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_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			Somatic				GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L	p.L204L	NM_000848.3	NP_000839.1	WXS	Illumina GAIIx	Phase_I				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	23	146	---	---	---	---	G	110217413	C	G	110217413	2	3	21	1	0	0	0	0	0	0	0	1	6838	842	30	4		4	GSTM2	1	110217413	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10	110217413	139033208	6	1602	5	2								
EPRS	2058	broad.mit.edu	37	chr1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tgaaacatcccacttggtacCtactgactggaaggcctgct	9	12	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.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		Somatic					p.G164R	NM_004446.2	NP_004437.2	WXS	Illumina GAIIx	Phase_I	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	4	127	---	---	---	---	G	220205767	C	G	220205767	3	3	21	1	0	0	0	0	1	0	0	0	5191	681	24	4	4160	4	EPRS	1	220205767	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	109988354	220205767	29044854	7	1603										
C2orf39	92749	broad.mit.edu	37	chr2	26671662	26671662	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aggatcctgatgctcctgtgTgacgagtcggtgaggccagg	16	9	0	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.chr2:26671662T>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			Somatic					p.C500C	NM_145038.2	NP_659475.2	WXS	Illumina GAIIx	Phase_I					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	8	269	---	---	---	---	C	26671662	T	C	26671662	2	2	21	1	0	0	0	0	0	0	0	1	2164	1702	59	2		2	C2orf39	2	26671662	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08		26671662	216527711	8	1604										
RTKN	6242	broad.mit.edu	37	chr2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctccaggatgtgcaatctgtCctgcatctctgtgccccccg	9	16	2	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_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000233330.6_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		Somatic				RTKN_ENST00000233330.6_Intron|RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron	p.D3N	NM_033046.2	NP_149035.1	WXS	Illumina GAIIx	Phase_I	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	11	48	---	---	---	---	T	74666743	C	T	74666743	3	4	21	1	0	0	0	0	1	0	0	0	13722	855	30	2	1693	2	RTKN	2	74666743	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	47995081	74666743	168532630	9	1605										
EIF2AK3	9451	broad.mit.edu	37	chr2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gaaccgtctgctcttcctcaTcctggtccattgcagtcact	7	15	4	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.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	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		Somatic				EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	p.D965V	NM_004836.5	NP_004827.4	WXS	Illumina GAIIx	Phase_I	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	39	252	---	---	---	---	A	88870483	T	A	88870483	3	1	21	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	10	1606										
NPAS2	4862	broad.mit.edu	37	chr2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	actttaacacactcgacgtgGgtgcctcgggccttaatacc	9	13	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.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|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		Somatic				NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.G398S	NM_002518.3	NP_002509.2	WXS	Illumina GAIIx	Phase_I	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	18	82	---	---	---	---	A	101591316	G	A	101591316	3	1	21	1	0	0	0	0	1	0	0	0	10563	1232	43	2	1238	2	NPAS2	2	101591316	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	12720833	101591316	141608057	11	1607										
SLC20A1	6574	broad.mit.edu	37	chr2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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)aacfs		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		Somatic					p.N649fs	NM_005415.4	NP_005406.3	WXS	Illumina GAIIx	Phase_I	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	21	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	12	1608										
ITGA6	3655	broad.mit.edu	37	chr2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tttcatgcaggataatatcaGagataaactgcgtcccattc	7	9	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.chr2:173349859G>C	ENST00000264106.6	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	ITGA6_ENST00000375221.2_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|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	3655				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		Somatic				AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T	p.R613T			WXS	Illumina GAIIx	Phase_I	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	6	171	---	---	---	---	C	173349859	G	C	173349859	3	2	21	1	0	0	0	0	1	0	0	0	7880	942	33	4	1771	4	ITGA6	2	173349859	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	59929352	173349859	69849514	13	1609										
STAT4	6775	broad.mit.edu	37	chr2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gcagagcagacaaccggcctTtattgtagggttctacagag	12	9	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.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	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		Somatic				STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	p.K630T	NM_003151.3	NP_003142.1	WXS	Illumina GAIIx	Phase_I	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	3	128	---	---	---	---	G	191897839	T	G	191897839	3	3	21	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	14	1610										
ICA1L	130026	broad.mit.edu	37	chr2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aaaactgaggtgctccaaatTctctcatttgagaatgtttt	7	7	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.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		Somatic				ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	p.E317V	NM_138468.4	NP_612477.3	WXS	Illumina GAIIx	Phase_I	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	11	86	---	---	---	---	A	203661648	T	A	203661648	3	1	21	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	11763809	203661648	39537725	15	1611										
PTH2R	5746	broad.mit.edu	37	chr2	209302260	209302260	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tttaatttttttttctcattAgaaggtaattgtttccctga	5	5	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.chr2:209302260A>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			Somatic				PTH2R_ENST00000413482.1_Splice_Site		NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	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	4	141	---	---	---	---	T	209302260	A	T	209302260	5	4	21	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	5640612	209302260	33897113	16	1612										
ACCN4	55515	broad.mit.edu	37	chr2	220396491	220396491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	acctcccaggtctatactcgCtatgggaagtgttacacctt	8	12	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.chr2:220396491C>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			Somatic				ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	p.R325R			WXS	Illumina GAIIx	Phase_I	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	7	209	---	---	---	---	T	220396491	C	T	220396491	2	4	21	1	0	0	0	0	0	0	0	1	131	784	28	2		2	ACCN4	2	220396491	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11094231	220396491	22802882	17	1613										
NDUFA10	4705	broad.mit.edu	37	chr2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctgcagcaggcgactgctgtAcaaccaggactgcaggcggt	14	12	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.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000404554.1_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		Somatic	OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H	p.Y136H	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	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	3	97	---	---	---	---	G	240960668	A	G	240960668	3	3	21	1	0	0	0	0	1	0	0	0	10260	391	14	2	693	2	NDUFA10	2	240960668	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	20564177	240960668	2238705	18	1614										
CCR4	1233	broad.mit.edu	37	chr3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cgtggtggtcctcttccttgGgttctggacaccttacaaca	10	12	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.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		Somatic					p.G253V	NM_005508.4	NP_005499.1	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	32995672	G	T	32995672	3	4	21	1	0	0	0	0	1	0	0	0	2943	1232	43	1	760	1	CCR4	3	32995672	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		32995672	165026758	19	1615										
DNAH12	201625	broad.mit.edu	37	chr3	57488129	57488129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gtatcaacagcccagtgtaaCacgtgttcaggaagttctgt	10	9	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.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			Somatic				DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	p.V388V	NM_178504.4	NP_848599.3	WXS	Illumina GAIIx	Phase_I	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	48	224	---	---	---	---	T	57488129	C	T	57488129	2	4	21	1	0	0	0	0	0	0	0	1	4600	465	17	2		2	DNAH12	3	57488129	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	24492457	57488129	140534301	20	1616										
UBA5	79876	broad.mit.edu	37	chr3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ggtttctgttaaattttggtActgttagtttttaccttgga	9	4	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.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_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|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		Somatic				UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S	p.T278S	NM_024818.3	NP_079094.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	T	132394111	A	T	132394111	3	4	21	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	21	1617										
SLCO2A1	6578	broad.mit.edu	37	chr3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gcaggtacccgaaagccggtCcaaatacagagatggcaaat	11	10	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.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		Somatic				SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	p.G218A	NM_005630.2	NP_005621.2	WXS	Illumina GAIIx	Phase_I	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	3	73	---	---	---	---	G	133672578	C	G	133672578	3	3	21	1	0	0	0	0	1	0	0	0	14726	855	30	4	1318	4	SLCO2A1	3	133672578	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1278467	133672578	64349852	22	1618										
FAM193A	8603	broad.mit.edu	37	chr4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	agcacctgttcagaatcacaCaaataagcatcaggtattca	6	10	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.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K|FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	151	---	---	---	---	A	2691264	C	A	2691264	3	1	21	1	0	0	0	0	1	0	0	0	5524	478	17	3	1528	3	FAM193A	4	2691264	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		2691264	188463012	23	1619										
GPRIN3	285513	broad.mit.edu	37	chr4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	agagctccagtgtgtggctcCcactgctgtggcaaatgaca	12	11	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.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																																						ENST00000609438.1																			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		Somatic				GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	p.G366E	NM_198281.2	NP_938022.2	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1615	-		Hepatocellular(203;0.114)						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	34	158	---	---	---	---	T	90170165	C	T	90170165	3	4	21	1	0	0	0	0	1	0	0	0	6731	623	22	2	1237	2	GPRIN3	4	90170165	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	87478901	90170165	100984111	24	1620										
FAT1	2195	broad.mit.edu	37	chr4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	agaagtcacgtgaatgacttTaacagaagagaactggggcg	13	6	1	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.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)	Somatic					p.K351E	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	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	44	242	---	---	---	---	C	187629931	T	C	187629931	3	2	21	1	0	0	0	0	1	0	0	0	5689	1763	61	2	12819	2	FAT1	4	187629931	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	97459766	187629931	3524345	25	1621										
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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)aagdel		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		Somatic					p.K25del	NM_003518.3	NP_003509.1	WXS	Illumina GAIIx	Phase_I	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	21	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	26	1622										
GPR111	222611	broad.mit.edu	37	chr6	47650245	47650245	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gccattgtgagaatcagcaaGaacatcgccatcctcacacc	7	14	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.chr6:47650245G>A	ENST00000296862.1	+	6	1950	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	GPR111_ENST00000398742.2_Silent_p.K582K|GPR111_ENST00000507065.1_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			Somatic				GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000296862.1_Silent_p.K650K	p.K582K			WXS	Illumina GAIIx	Phase_I	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	7	104	---	---	---	---	A	47650245	G	A	47650245	2	1	21	1	0	0	0	0	0	0	0	1	6628	933	33	2		2	GPR111	6	47650245	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	21433448	47650245	123464822	27	1623										
DDX43	55510	broad.mit.edu	37	chr6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gaatatacaaagtacaacaaAcaccacaatccaagtaagcc	4	11	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.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		Somatic				DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	p.N98T	NM_018665.2	NP_061135.2	WXS	Illumina GAIIx	Phase_I	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	3	112	---	---	---	---	C	74107454	A	C	74107454	3	2	21	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	28	1624										
CYB5R4	51167	broad.mit.edu	37	chr6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aaaatactgaattatgctttGactgatatacccagtctcag	6	8	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.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)	ENST00000369681.5																			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		Somatic				CYB5R4_ENST00000479164.1_3'UTR	p.L413F	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	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)						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	31	166	---	---	---	---	C	84649905	G	C	84649905	3	2	21	1	0	0	0	0	1	0	0	0	4129	1281	45	4	1289	4	CYB5R4	6	84649905	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	10542451	84649905	86465162	29	1625										
PLEKHA8	84725	broad.mit.edu	37	chr7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ttagaggtctcaaatttttgAagggatttttgacagaagtg	11	3	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.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_ENST00000396259.1_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_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		Somatic				PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q	p.K416Q	NM_001197027.1	NP_001183956.1	WXS	Illumina GAIIx	Phase_I	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	17	139	---	---	---	---	C	30102304	A	C	30102304	3	2	21	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	30	1626										
PDE1C	5137	broad.mit.edu	37	chr7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tgatgtgcaccacttccgtcCaagtagctttaaagctctta	7	11	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.chr7:31862740C>G	ENST00000396191.1	-	14	1984	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396184.3_Missense_Mutation_p.W510S|PDE1C_ENST00000479980.1_5'Flank	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		Somatic				PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S	p.W510S	NM_005020.2	NP_005011.1	WXS	Illumina GAIIx	Phase_I	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	31	286	---	---	---	---	G	31862740	C	G	31862740	3	3	21	1	0	0	0	0	1	0	0	0	11635	595	21	4	391	4	PDE1C	7	31862740	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1760436	31862740	127275923	31	1627										
SEPT14	346288	broad.mit.edu	37	chr7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ttcatagtgctgagtgtgggTtttttcttttagattttcca	9	5	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.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		Somatic					p.T300A	NM_207366.2	NP_997249.2	WXS	Illumina GAIIx	Phase_I	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	5	194	---	---	---	---	C	55874871	T	C	55874871	3	2	21	1	0	0	0	0	1	0	0	0	14063	1725	60	2	412	2	SEPT14	7	55874871	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	24012131	55874871	103263792	32	1628										
KIAA1324L	222223	broad.mit.edu	37	chr7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ttgactggcatacaaatgccCctaccaaatttgtgtaatca	6	10	1	1	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_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E	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		Somatic				KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E	p.G754E	NM_001142749.2	NP_001136221.1	WXS	Illumina GAIIx	Phase_I	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	21	121	---	---	---	---	T	86539226	C	T	86539226	3	4	21	1	0	0	0	0	1	0	0	0	8224	623	22	2	856	2	KIAA1324L	7	86539226	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	30664355	86539226	72599437	33	1629										
FSCN3	29999	broad.mit.edu	37	chr7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctgggtggacgcagcagttcCctgcctggaggagtgtggct	17	10	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.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		Somatic				FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	p.P173R	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	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	24	128	---	---	---	---	G	127235734	C	G	127235734	3	3	21	1	0	0	0	0	1	0	0	0	6069	623	22	4	524	4	FSCN3	7	127235734	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	40696508	127235734	31902929	34	1630										
MYST3	7994	broad.mit.edu	37	chr8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	agaaactacagatggggattGgttcagcaaccggctgtgaa	13	7	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.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_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		Somatic				KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L	p.P205L	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	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	13	549	---	---	---	---	A	41845068	G	A	41845068	3	1	21	1	0	0	0	0	1	0	0	0	10104	1348	47	2	5460	2	MYST3	8	41845068	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		41845068	104518954	35	1631										
TRPA1	8989	broad.mit.edu	37	chr8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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_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	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)ataccaaatfs		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		Somatic				RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.IPN1033fs	NM_007332.2	NP_015628.2	WXS	Illumina GAIIx	Phase_I	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	21	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	36	1632										
RIPK2	8767	broad.mit.edu	37	chr8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aaatacttgtggtttctagaTcaccatctttaaatttactt	4	7	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.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		Somatic				RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	p.S529P	NM_003821.5	NP_003812.1	WXS	Illumina GAIIx	Phase_I	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	7	111	---	---	---	---	C	90802606	T	C	90802606	3	2	21	1	0	0	0	0	1	0	0	0	13381	1435	50	2	1627	2	RIPK2	8	90802606	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	17866513	90802606	55561416	37	1633										
RUNX1T1	862	broad.mit.edu	37	chr8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cgagaagcagctctgaggagTcaacaggtgaggtggtgctg	17	7	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.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|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		Somatic				RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G	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	WXS	Illumina GAIIx	Phase_I	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	12	268	---	---	---	---	C	93017401	T	C	93017401	3	2	21	1	0	0	0	0	1	0	0	0	13747	1667	58	2	1159	2	RUNX1T1	8	93017401	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	2214795	93017401	53346621	38	1634										
SNX31	169166	broad.mit.edu	37	chr8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctcacagacctggctttgttGaatgtggtattttttacttt	8	7	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.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*		Somatic				SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	p.Q406*	NM_152628.3	NP_689841.3	WXS	Illumina GAIIx	Phase_I	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	52	334	---	---	---	---	A	101589258	G	A	101589258	4	1	21	1	0	0	0	0	0	1	0	0	14901	1299	45	2	114	2	SNX31	8	101589258	Nonsense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	8571857	101589258	44774764	39	1635										
ANGPT1	284	broad.mit.edu	37	chr8	108348408	108348408	+	De_novo_Start_InFrame	DEL	T	T	-													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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			Somatic				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame				WXS	Illumina GAIIx	Phase_I	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	21	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	40	1636										
GLI4	2738	broad.mit.edu	37	chr8	144358723	144358723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ggctgcacacgggtgagaagCcctacgcctgcagccagtgc	14	14	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.chr8:144358723C>A	ENST00000523522.1	+	3	919	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	GLI4_ENST00000340042.1_Missense_Mutation_p.P294T|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	294					regulation of transcription, DNA-templated (GO:0006355)	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(1)|lung(5)	9	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)			GGGTGAGAAGCCCTACGCCTG	0.657																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(880-882)Ccc>Acc		GLI family zinc finger 4							24	25	25					8																	144358723		2202	4298	6500	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358723C>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.880C>A	8.37:g.144358723C>A	ENSP00000430987:p.Pro294Thr		Somatic				GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.P294T	p.P294T	NM_138465.3	NP_612474.1	WXS	Illumina GAIIx	Phase_I	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	965	+	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)		294					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.880C>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672093	0.67928	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.16897	2.31;2.31	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42245	0.1194	M	0.74258	2.255	0.29430	N	0.859922	D	0.89917	1.0	D	0.91635	0.999	T	0.32188	-0.9916	9	0.87932	D	0	.	13.65	0.62306	0.0:1.0:0.0:0.0	.	294	P10075	GLI4_HUMAN	T	294	ENSP00000345024:P294T;ENSP00000430987:P294T	ENSP00000345024:P294T	P	+	1	0	GLI4	144430098	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.182000	0.58310	2.041000	0.60428	0.563000	0.77884	CCC		0.657	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			3	21	3	21	---	---	---	---	A	144358723	C	A	144358723	3	1	21	1	0	0	0	0	1	0	0	0	6440	739	26	3	890	3	GLI4	8	144358723	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	36010315	144358723	2005299	41	1637										
FREM1	158326	broad.mit.edu	37	chr9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gggggcatgtaggccactttCatatagttcacagcatgctg	12	9	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.chr9:14823308C>A	ENST00000380880.3	-	13	2970	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	FREM1_ENST00000380881.4_Missense_Mutation_p.M730I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I			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		Somatic				FREM1_ENST00000380880.3_Missense_Mutation_p.M729I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I	p.M730I			WXS	Illumina GAIIx	Phase_I	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	74	350	---	---	---	---	A	14823308	C	A	14823308	3	1	21	1	0	0	0	0	1	0	0	0	6044	826	29	3	4502	3	FREM1	9	14823308	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		14823308	126390123	42	1638										
TMC1	117531	broad.mit.edu	37	chr9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aatgggcaaaattcctccgtGattttgagaacttcaaagct	8	8	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.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000396237.3_Missense_Mutation_p.D159N|TMC1_ENST00000340019.3_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		Somatic				TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N	p.D159N	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	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	16	87	---	---	---	---	A	75357381	G	A	75357381	3	1	21	1	0	0	0	0	1	0	0	0	15981	1290	45	2	497	2	TMC1	9	75357381	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	60534073	75357381	65856050	43	1639										
FGD3	89846	broad.mit.edu	37	chr9	95784668	95784668	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gaaggcagttcgggtgcagcAggggtaagtgccccatgctc	16	10	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	13	103	---	---	---	---	C	95784668	A	C	95784668	2	2	21	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	44	1640										
DDIT4	54541	broad.mit.edu	37	chr10	74034535	74034535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gaacacttgtgtgccaacctGatgcagctgctgcaggagag	13	10	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	37	371	---	---	---	---	A	74034535	G	A	74034535	2	1	21	1	0	0	0	0	0	0	0	1	4331	1277	45	2		2	DDIT4	10	74034535	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		74034535	61500212	45	1641										
USP54	159195	broad.mit.edu	37	chr10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tggtagtgtggcagtgtaggTtagttgaggattgcaccctg	16	5	0	1	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_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000600607.1_RNA|PPP3CB_ENST00000360663.5_5'Flank|PPP3CB_ENST00000394828.2_5'Flank|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|PPP3CB_ENST00000342558.3_5'Flank|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|PPP3CB_ENST00000394829.2_5'Flank|PPP3CB_ENST00000394822.2_5'Flank			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		Somatic				RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA	p.T1567A			WXS	Illumina GAIIx	Phase_I	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	7	419	---	---	---	---	C	75258743	T	C	75258743	3	2	21	1	0	0	0	0	1	0	0	0	17082	1725	60	2	359	2	USP54	10	75258743	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	1224208	75258743	60276004	46	1642										
C10orf99	387695	broad.mit.edu	37	chr10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctgcttctctgcttctccatCttctccacagaaggtagggc	8	14	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.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		Somatic					p.I19M	NM_207373.2	NP_997256.1	WXS	Illumina GAIIx	Phase_I	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	25	251	---	---	---	---	G	85933664	C	G	85933664	3	3	21	1	0	0	0	0	1	0	0	0	1628	903	32	4	59	4	C10orf99	10	85933664	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10674921	85933664	49601083	47	1643										
SLC18A2	6571	broad.mit.edu	37	chr10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gaatgctacagaaatccagaCggccaggccagtgcacactg	11	12	0	2	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		Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.T62R	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	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	3	75	---	---	---	---	G	119003545	C	G	119003545	3	3	21	1	0	0	0	0	1	0	0	0	14426	536	19	4	191	4	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	33069881	119003545	16531202	48	1644										
ACADSB	36	broad.mit.edu	37	chr10	124806813	124806813	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	caaaagactatttgattttcAggtatgtaattattagggtc	8	4	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.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.(988-990)cAg>cGg		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			Somatic				ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	p.Q330R	NM_001609.3	NP_001600.1	WXS	Illumina GAIIx	Phase_I	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.989A>G	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	3	103	---	---	---	---	G	124806813	A	G	124806813	5	3	21	1	0	0	0	0	0	0	1	0	115	202	7	2	1019	2	ACADSB	10	124806813	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5803268	124806813	10727934	49	1645										
ASCL3	56676	broad.mit.edu	37	chr11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	taggaagtttgtcaggtagaCtagagttgcctctgttgtcc	12	7	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.chr11:8959683C>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		Somatic				ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	p.S9T	NM_020646.1	NP_065697.1	WXS	Illumina GAIIx	Phase_I	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	5	346	---	---	---	---	G	8959683	C	G	8959683	3	3	21	1	0	0	0	0	1	0	0	0	1035	565	20	4	523	4	ASCL3	11	8959683	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		8959683	126046833	50	1646										
TTC17	55761	broad.mit.edu	37	chr11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	acagagcacacttctctgctGatgctgctgtcgtggtccat	10	12	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.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	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		Somatic				TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	p.D280H	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	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	11	445	---	---	---	---	C	43418961	G	C	43418961	3	2	21	1	0	0	0	0	1	0	0	0	16681	1290	45	4	864	4	TTC17	11	43418961	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	34459278	43418961	91587555	51	1647										
OR4S2	219431	broad.mit.edu	37	chr11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tgagcaacctgtttaagtcaCccatgtatttctttctcagc	6	11	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.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		Somatic					p.P56A	NM_001004059.2	NP_001004059.2	WXS	Illumina GAIIx	Phase_I	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	7	488	---	---	---	---	G	55418545	C	G	55418545	3	3	21	1	0	0	0	0	1	0	0	0	11083	507	18	4	168	4	OR4S2	11	55418545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11999584	55418545	79587971	52	1648										
NPAS4	266743	broad.mit.edu	37	chr11	66192368	66192368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ggaggactggagcccctggaCtccaacctgtccctgtcagg	13	14	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			Somatic					p.D669D	NM_178864.3	NP_849195.2	WXS	Illumina GAIIx	Phase_I	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	46	269	---	---	---	---	T	66192368	C	T	66192368	2	4	21	1	0	0	0	0	0	0	0	1	10565	564	20	2		2	NPAS4	11	66192368	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10773823	66192368	68814148	53	1649										
LRFN4	78999	broad.mit.edu	37	chr11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tggctgccttactggtcttcActgtggccttgctggttcgg	13	11	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.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_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		Somatic				LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	p.T534P	NM_024036.4	NP_076941.2	WXS	Illumina GAIIx	Phase_I	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	7	27	---	---	---	---	C	66627358	A	C	66627358	3	2	21	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	54	1650										
USP35	57558	broad.mit.edu	37	chr11	77911274	77911274	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cagcactcccacgaagccttCcacctggtaaggtcccctgc	8	18	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.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F	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			Somatic				USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	p.F344F	NM_020798.2	NP_065849.1	WXS	Illumina GAIIx	Phase_I	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	12	82	---	---	---	---	T	77911274	C	T	77911274	2	4	21	1	0	0	0	0	0	0	0	1	17063	854	30	2		2	USP35	11	77911274	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11283916	77911274	57095242	55	1651										
ATM	472	broad.mit.edu	37	chr11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tctatatgtagaggctgttgGaagctgcttgggagaagtgg	16	4	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.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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	p.G1672A	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	30	209	---	---	---	---	C	108170450	G	C	108170450	3	2	21	1	0	0	0	0	1	0	0	0	1109	1174	41	4	5145	4	ATM	11	108170450	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	30259176	108170450	26836066	56	1652										
TAS2R46	259292	broad.mit.edu	37	chr12	11214315	11214315	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cagattaacagcagaaaagaTatcagggtcagagtgaaggg	13	5	2	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.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			Somatic				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193I	NM_176887.2	NP_795368.2	WXS	Illumina GAIIx	Phase_I	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	39	231	---	---	---	---	A	11214315	T	A	11214315	2	1	21	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	57	1653										
RERGL	79785	broad.mit.edu	37	chr12	18237549	18237549	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	atgtcatacacaataacaaaCccatctgcccagtgaagctc	5	13	2	1	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			Somatic				RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000536890.1_Intron	p.G79G	NM_024730.2	NP_079006.1	WXS	Illumina GAIIx	Phase_I	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	6	235	---	---	---	---	A	18237549	C	A	18237549	2	1	21	1	0	0	0	0	0	0	0	1	13233	494	18	3		3	RERGL	12	18237549	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	7023234	18237549	115614346	58	1654										
CASC1	55259	broad.mit.edu	37	chr12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ttgccttattgtttataataAcataaaaatgagagtgtcta	6	4	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.chr12:25264722A>C	ENST00000320267.9	-	13	1826	c.1745T>G	c.(1744-1746)gTt>gGt	p.V582G	CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000354189.5_Missense_Mutation_p.V646G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G	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		Somatic				CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G	p.V646G	NM_001082972.1	NP_001076441.1	WXS	Illumina GAIIx	Phase_I	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	5	140	---	---	---	---	C	25264722	A	C	25264722	3	2	21	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	59	1655										
IPO8	10526	broad.mit.edu	37	chr12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	catgcagggctccatctttcTtcctagggtcaaagttcggg	11	11	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.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		Somatic				IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	p.K429M	NM_006390.3	NP_006381.2	WXS	Illumina GAIIx	Phase_I	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	22	134	---	---	---	---	A	30818715	T	A	30818715	3	1	21	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	60	1656			1	7		2	2	37	T		9.767996e-05
IPO8	10526	broad.mit.edu	37	chr12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tcgggtctgtcaggatttgaTaacagaatgccatcattttt	9	7	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.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		Somatic				IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	p.Y417F	NM_006390.3	NP_006381.2	WXS	Illumina GAIIx	Phase_I	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	28	120	---	---	---	---	A	30818751	T	A	30818751	3	1	21	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	61	1657			1	7		2	2	37	T		9.767996e-05
EEA1	8411	broad.mit.edu	37	chr12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aatctgcatggtaagtttagCctcattttcttcatgcttct	6	9	5	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.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		Somatic					p.A1237T	NM_003566.3	NP_003557	WXS	Illumina GAIIx	Phase_I	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	7	295	---	---	---	---	T	93171901	C	T	93171901	3	4	21	1	0	0	0	0	1	0	0	0	4921	739	26	2	542	2	EEA1	12	93171901	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	62353150	93171901	40679994	62	1658										
CHFR	55743	broad.mit.edu	37	chr12	133428223	133428223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cactgctgaggggcgacacgCgggtcctgctcgcgctccgc	15	16	0	1	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_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000266880.7_Silent_p.P502P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000541837.2_5'UTR			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	55743				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			Somatic				CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000432561.2_Silent_p.P503P|CHFR_ENST00000541837.2_5'UTR	p.P502P			WXS	Illumina GAIIx	Phase_I	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	58	292	---	---	---	---	T	133428223	C	T	133428223	2	4	21	1	0	0	0	0	0	0	0	1	3337	755	27	2		2	CHFR	12	133428223	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	40256322	133428223	423672	63	1659										
RNASE6	6039	broad.mit.edu	37	chr14	21250158	21250158	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cagagctcaaagcctgtcaaCatgactgactgcagactcac	8	13	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.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			Somatic					p.N100N	NM_005615.4	NP_005606.1	WXS	Illumina GAIIx	Phase_I	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	8	286	---	---	---	---	T	21250158	C	T	21250158	2	4	21	1	0	0	0	0	0	0	0	1	13407	477	17	2		2	RNASE6	14	21250158	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		21250158	86099382	64	1660										
C14orf106	55320	broad.mit.edu	37	chr14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	accaggtaagcattctaaggGatgcctatttgtcttatcag	9	8	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.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		Somatic					p.P867T	NM_018353.4	NP_060823.3	WXS	Illumina GAIIx	Phase_I	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	8	207	---	---	---	---	T	45693191	G	T	45693191	3	4	21	1	0	0	0	0	1	0	0	0	1738	1174	41	3	827	3	C14orf106	14	45693191	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	24443033	45693191	61656349	65	1661										
DDHD1	80821	broad.mit.edu	37	chr14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gagttcagattggatctaaaTtgggttttgcatcatcatcg	10	6	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.chr14:53513502T>C	ENST00000323669.5	-	13	2686	c.2687A>G	c.(2686-2688)aAt>aGt	p.N896S	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S|DDHD1_ENST00000357758.3_Missense_Mutation_p.N868S	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	80821				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		Somatic				DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	p.N868S	NM_030637.2	NP_085140.2	WXS	Illumina GAIIx	Phase_I	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	25	133	---	---	---	---	C	53513502	T	C	53513502	3	2	21	1	0	0	0	0	1	0	0	0	4326	1493	52	2	19	2	DDHD1	14	53513502	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	7820311	53513502	53836038	66	1662										
DACT1	51339	broad.mit.edu	37	chr14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tacagctttccccgtggaagAgaggcctgccttggatttca	11	11	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.chr14:59112942A>G	ENST00000335867.4	+	4	1625	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	DACT1_ENST00000541264.2_Missense_Mutation_p.E253G|DACT1_ENST00000395153.3_Missense_Mutation_p.E497G|DACT1_ENST00000556859.1_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		Somatic				DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G	p.E497G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	WXS	Illumina GAIIx	Phase_I	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	26	161	---	---	---	---	G	59112942	A	G	59112942	3	3	21	1	0	0	0	0	1	0	0	0	4222	304	11	2	1615	2	DACT1	14	59112942	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5599440	59112942	48236598	67	1663										
HSP90AA1	3320	broad.mit.edu	37	chr14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tccaggtgtttctttgctgcCatgtaacccattgttgagtt	9	9	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.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		Somatic				HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	p.M750I	NM_001017963.2	NP_001017963.2	WXS	Illumina GAIIx	Phase_I	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	7	394	---	---	---	---	T	102548653	C	T	102548653	3	4	21	1	0	0	0	0	1	0	0	0	7401	594	21	2	322	2	HSP90AA1	14	102548653	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	43435711	102548653	4800887	68	1664										
CILP	8483	broad.mit.edu	37	chr15	65502037	65502037	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gatacttagcctatacccaaCacagatgtgacttccaggac	7	12	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.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			Somatic					p.V19V	NM_003613.3	NP_003604	WXS	Illumina GAIIx	Phase_I	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	10	83	---	---	---	---	A	65502037	C	A	65502037	2	1	21	1	0	0	0	0	0	0	0	1	3429	465	17	3		3	CILP	15	65502037	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		65502037	37029355	69	1665										
DENND4A	10260	broad.mit.edu	37	chr15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ccacttacattttgccaattGctgatgcaaattattcagtg	6	9	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.chr15:66015198G>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		Somatic				DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	p.Q526K	NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	T	66015198	G	T	66015198	3	4	21	1	0	0	0	0	1	0	0	0	4433	1328	46	3	4232	3	DENND4A	15	66015198	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	513161	66015198	36516194	70	1666										
IL16	3603	broad.mit.edu	37	chr15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gggcaatgaggttctttccaTcaacggcaagtctctcaagg	11	10	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.chr15:81598322T>G	ENST00000302987.4	+	16	3494	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|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		Somatic				RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S	p.I1165S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	WXS	Illumina GAIIx	Phase_I	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	8	347	---	---	---	---	G	81598322	T	G	81598322	3	3	21	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	15583124	81598322	20933070	71	1667										
POLG	5428	broad.mit.edu	37	chr15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	gcagaccaccccagctgactCcagggtggtacctgtcggca	12	15	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.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		Somatic				POLG_ENST00000442287.2_Missense_Mutation_p.E641K	p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	WXS	Illumina GAIIx	Phase_I	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	12	194	---	---	---	---	T	89868709	C	T	89868709	3	4	21	1	0	0	0	0	1	0	0	0	12200	864	30	2	1854	2	POLG	15	89868709	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8270387	89868709	12662683	72	1668										
CHD3	1107	broad.mit.edu	37	chr17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T													0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	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_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Y706fs	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.(2113-2118)aattacfs		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		Somatic				CHD3_ENST00000330494.7_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs	p.Y706fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			12	2115_2116	+		Prostate(122;0.202)	647					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	21	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		7801306	73393904	73	1669										
SYT4	6860	broad.mit.edu	37	chr18	40853620	40853620	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tcaattcccgagagaggaatTagaacttccccaatgatatc	7	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.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			Somatic				SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	p.L258L	NM_020783.3	NP_065834.1	WXS	Illumina GAIIx	Phase_I	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	4	127	---	---	---	---	A	40853620	T	A	40853620	2	1	21	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	74	1670										
MUC16	94025	broad.mit.edu	37	chr19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ctgccacagagggagggcttGtccaggacacatccttggga	14	11	0	1	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		Somatic					p.T4442R	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	13	186	---	---	---	---	C	9074121	G	C	9074121	3	2	21	1	0	0	0	0	1	0	0	0	9973	1377	48	4	30526	4	MUC16	19	9074121	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		9074121	50054862	75	1671										
C19orf57	79173	broad.mit.edu	37	chr19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ccatttgaatgaacgtacctGaggtccgcagcttcttcctc	8	13	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.chr19:14015677G>A	ENST00000586783.1	-	1	28	c.29C>T	c.(28-30)tCa>tTa	p.S10L	CC2D1A_ENST00000589606.1_5'Flank|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000454313.1_Missense_Mutation_p.S10L|C19orf57_ENST00000591586.1_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		Somatic				C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L	p.S10L			WXS	Illumina GAIIx	Phase_I	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	27	155	---	---	---	---	A	14015677	G	A	14015677	3	1	21	1	0	0	0	0	1	0	0	0	1939	1294	45	2	1912	2	C19orf57	19	14015677	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	4941556	14015677	45113306	76	1672										
HAPLN4	404037	broad.mit.edu	37	chr19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ttgtccacttgagccggacgCcgtcgtgaccgtgggcggct	15	13	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		Somatic				AC138430.4_ENST00000586064.2_RNA	p.G81D	NM_023002.2	NP_075378.1	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	T	19371864	C	T	19371864	3	4	21	1	0	0	0	0	1	0	0	0	6957	739	26	2	978	2	HAPLN4	19	19371864	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	5356187	19371864	39757119	77	1673										
FAM98C	147965	broad.mit.edu	37	chr19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	ccagctgctgcaggagttgcAtgctaaggtagagagtcaga	14	8	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.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron	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		Somatic				FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR	p.H183L	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	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	16	66	---	---	---	---	T	38895746	A	T	38895746	3	4	21	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	78	1674										
BFSP1	631	broad.mit.edu	37	chr20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	cttctcactttctccttgacCttcctgtatagtttcccaaa	3	14	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.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N	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		Somatic				BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N	p.K447N	NM_001195.3	NP_001186.1	WXS	Illumina GAIIx	Phase_I	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	35	217	---	---	---	---	A	17475376	C	A	17475376	3	1	21	1	0	0	0	0	1	0	0	0	1415	680	24	1	660	1	BFSP1	20	17475376	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		17475376	45550144	79	1675										
RAE1	8480	broad.mit.edu	37	chr20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	atttttaaagacaaacagaaCaagcctactggttttgccct	6	9	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.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	24	176	---	---	---	---	G	55948566	C	G	55948566	3	3	21	1	0	0	0	0	1	0	0	0	12998	477	17	4	708	4	RAE1	20	55948566	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	38473190	55948566	7076954	80	1676										
CDH4	1002	broad.mit.edu	37	chr20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tccaacacgtccatcatcaaAgtcaaggtgtgcccatgtga	8	12	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.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		Somatic				CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	p.K707N	NM_001794.3	NP_001785.2	WXS	Illumina GAIIx	Phase_I	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	5	199	---	---	---	---	T	60504782	A	T	60504782	3	4	21	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	81	1677										
SRRD	402055	broad.mit.edu	37	chr22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	aagagagatcttggtcacagGaacctgccatttgaagtgtg	12	7	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.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																																						ENST00000215917.7																			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		Somatic					p.G135A	NM_001013694.2	NP_001013716.2	WXS	Illumina GAIIx	Phase_I	Q9UH36	SRR1L_HUMAN			3	418	+								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	52	210	---	---	---	---	C	26884148	G	C	26884148	3	2	21	1	0	0	0	0	1	0	0	0	15166	1174	41	4	414	4	SRRD	22	26884148	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		26884148	24420418	82	1678										
LIMK2	3985	broad.mit.edu	37	chr22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tccaccgggatctgaactcgCacaactgcctcatcaagttg	8	14	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_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|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		Somatic				LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N	p.H455N	NM_005569.3	NP_005560.1	WXS	Illumina GAIIx	Phase_I	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	29	158	---	---	---	---	A	31667167	C	A	31667167	3	1	21	1	0	0	0	0	1	0	0	0	8802	710	25	3	1466	3	LIMK2	22	31667167	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	4783019	31667167	19637399	83	1679										
NLGN4X	57502	broad.mit.edu	37	chrX	5821237	5821237	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	atggggatgccgaagacataGgggacctcatcaccatgggc	14	10	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_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P	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			Somatic				NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000275857.6_Silent_p.P494P	p.P494P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	WXS	Illumina GAIIx	Phase_I	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	11	72	---	---	---	---	C	5821237	G	C	5821237	2	2	21	1	0	0	0	0	0	0	0	1	10464	987	35	4		4	NLGN4X	23	5821237	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		5821237	149449323	84	1680										
DMD	1756	broad.mit.edu	37	chrX	32380926	32380926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	9	0.930579858446434	1.62842105263158	1.71888888888889	1.56262626262626	1	1	0	tttccagtcttaattctgtgTgaaatggctgcaaatcgatg	9	7	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.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			Somatic				DMD_ENST00000378677.2_Silent_p.S1764S	p.S1768S	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	WXS	Illumina GAIIx	Phase_I	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	5	150	---	---	---	---	C	32380926	T	C	32380926	2	2	21	1	0	0	0	0	0	0	0	1	4580	1683	59	2		2	DMD	23	32380926	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08	26559689	32380926	122889634	85	1681										
UBR4	23352	broad.mit.edu	37	chr1	19493625	19493625	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	agggcccaagatgcgttccaGggagttgctactgatctcgg	14	10	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.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_ENST00000375267.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_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		Somatic				UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V	p.L1334V			WXS	Illumina GAIIx	Phase_I	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	6	192	---	---	---	---	C	19493625	G	C	19493625	3	2	22	1	0	0	0	0	1	0	0	0	16901	991	35	4	11863	4	UBR4	1	19493625	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		19493625	229756996	1	1682										
NCKAP1	10787	broad.mit.edu	37	chr2	183846059	183846059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	acaggtccgtatttcctcacAtgtgctctaagttcttccat	6	12	3	0	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																																						ENST00000361354.4																			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.(1252-1254)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			Somatic				NCKAP1_ENST00000360982.2_Silent_p.H424H	p.H418H	NM_013436.3	NP_038464.1	WXS	Illumina GAIIx	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		13	1626	-								O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1254T>C	CCDS2287.1																																																																																				0.328	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		7	109	7	109	---	---	---	---	G	183846059	A	G	183846059	2	3	22	1	0	0	0	0	0	0	0	1	10221	214	8	2		2	NCKAP1	2	183846059	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		183846059	59353314	2	1683										
CCDC140	151278	broad.mit.edu	37	chr2	223168894	223168894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ctgcagagaggcgttttgaaGagtgctgcgcgcacctgcct	14	11	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.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		Somatic					p.K91N	NM_153038.1	NP_694583.1	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	C	223168894	G	C	223168894	3	2	22	1	0	0	0	0	1	0	0	0	2774	933	33	4	275	4	CCDC140	2	223168894	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	39322835	223168894	20030479	3	1684										
FOXP1	27086	broad.mit.edu	37	chr3	71027051	71027051	+	Frame_Shift_Del	DEL	T	T	-													0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	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_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs	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)accfs		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		Somatic				FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000498215.1_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	WXS	Illumina GAIIx	Phase_I	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	22	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	4	1685										
BCL6	604	broad.mit.edu	37	chr3	187447376	187447376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ctcagccacactgtagtgcaTatcacttcgtgcctcttctg	7	14	4	0	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	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|BCL6_ENST00000450123.2_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		Somatic				RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron	p.M273V	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	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	7	122	---	---	---	---	C	187447376	T	C	187447376	3	2	22	1	0	0	0	0	1	0	0	0	1376	1406	49	2	1327	2	BCL6	3	187447376	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	116420325	187447376	10575054	5	1686										
TNIP3	79931	broad.mit.edu	37	chr4	122075727	122075727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ttattgaggcgttttatttcAcattcgtaatgttccttttc	6	7	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.chr4:122075727A>G	ENST00000509841.1	-	8	780	c.702T>C	c.(700-702)tgT>tgC	p.C234C	TNIP3_ENST00000454328.1_Silent_p.C157C|TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000507879.1_Silent_p.C227C	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			Somatic				TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000509841.1_Silent_p.C234C|TNIP3_ENST00000507879.1_Silent_p.C227C	p.C157C			WXS	Illumina GAIIx	Phase_I	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	7	260	---	---	---	---	G	122075727	A	G	122075727	2	3	22	1	0	0	0	0	0	0	0	1	16313	157	6	2		2	TNIP3	4	122075727	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		122075727	69078549	6	1687										
TLL1	7092	broad.mit.edu	37	chr4	166981195	166981195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	tctagctgcttgtggtggacTtcttaccaaacttaacggca	9	10	2	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.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		Somatic				TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	p.L621P	NM_012464.4	NP_036596.3	WXS	Illumina GAIIx	Phase_I	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	5	118	---	---	---	---	C	166981195	T	C	166981195	3	2	22	1	0	0	0	0	1	0	0	0	15942	1609	56	2	1920	2	TLL1	4	166981195	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	44905468	166981195	24173081	7	1688										
TNXB	7148	broad.mit.edu	37	chr6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	cctgcagctcctcccccagaCggggttttgggggacgcttt	13	14	0	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.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		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H	p.R1777H			WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	T	32037587	C	T	32037587	3	4	22	1	0	0	0	0	1	0	0	0	16343	536	19	2	9503	2	TNXB	6	32037587	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		32037587	139077480	8	1689										
DAAM2	23500	broad.mit.edu	37	chr6	39832798	39832798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	atgaggaggagacggagatgAggaaccaagtcgtggaagac	17	5	0	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.chr6:39832798A>G	ENST00000398904.2	+	5	558	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	DAAM2_ENST00000538976.1_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G			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		Somatic	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_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G	p.R126G	NM_015345.3	NP_056160.2	WXS	Illumina GAIIx	Phase_I	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	2	14	---	---	---	---	G	39832798	A	G	39832798	3	3	22	1	0	0	0	0	1	0	0	0	4216	295	11	2	390	2	DAAM2	6	39832798	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	7795211	39832798	131282269	9	1690										
UBQLN3	50613	broad.mit.edu	37	chr11	5529391	5529391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	tcagggattccaggaatggcTgccgtgggggaaaaagataa	15	6	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.chr11:5529391T>C	ENST00000311659.4	-	2	1545	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank	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			Somatic				HBG2_ENST00000380259.2_Intron	p.A466A	NM_017481.2	NP_059509.1	WXS	Illumina GAIIx	Phase_I	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	5	102	---	---	---	---	C	5529391	T	C	5529391	2	2	22	1	0	0	0	0	0	0	0	1	16895	1567	55	2		2	UBQLN3	11	5529391	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08		5529391	129477125	10	1691										
TRIM6	117854	broad.mit.edu	37	chr11	5632424	5632424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	tggggttttcttagattatgAggctggtactgtctcctttt	11	6	2	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.chr11:5632424A>G	ENST00000278302.5	+	8	1459	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|TRIM6-TRIM34_ENST00000354852.5_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000380097.3_Missense_Mutation_p.E468G|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|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		Somatic				AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G	p.E468G	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1	WXS	Illumina GAIIx	Phase_I				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	14	316	---	---	---	---	G	5632424	A	G	5632424	3	3	22	1	0	0	0	0	1	0	0	0	16530	304	11	2	1433	2	TRIM6	11	5632424	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	103033	5632424	129374092	11	1692										
OR5B17	219965	broad.mit.edu	37	chr11	58126475	58126475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	taaacatgataaagaggggaAcctgtagttctggggcattg	13	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.chr11:58126475A>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		Somatic					p.V23G	NM_001005489.1	NP_001005489.1	WXS	Illumina GAIIx	Phase_I	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	11	166	---	---	---	---	C	58126475	A	C	58126475	3	2	22	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	12	1693										
GRIA4	2893	broad.mit.edu	37	chr11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ccagggaattgacatggagaGgacactcaaacaggtaactc	11	9	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.chr11:105774694G>A	ENST00000530497.1	+	7	1040	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000393127.2_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_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	2893				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		Somatic				GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K	p.R347K	NM_001077243.2	NP_001070711	WXS	Illumina GAIIx	Phase_I	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	4	111	---	---	---	---	A	105774694	G	A	105774694	3	1	22	1	0	0	0	0	1	0	0	0	6770	1000	35	2	1066	2	GRIA4	11	105774694	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	47648219	105774694	29231822	13	1694										
DRD2	1813	broad.mit.edu	37	chr11	113295366	113295366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	cataccaggacagattcagtGgatccatcagggcggtggag	14	9	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.chr11:113295366G>A	ENST00000362072.3	-	2	352	c.8C>T	c.(7-9)cCa>cTa	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|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000544518.1_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		Somatic				DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L	p.P3L	NM_000795.3	NP_000786.1	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	A	113295366	G	A	113295366	3	1	22	1	0	0	0	0	1	0	0	0	4757	1348	47	2	1351	2	DRD2	11	113295366	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	7520672	113295366	21711150	14	1695										
LRIG3	121227	broad.mit.edu	37	chr12	59267899	59267899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ttgcactaaaatctaaagagGacttgtttagacacagattt	7	6	1	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.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		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	p.S1018F	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	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	11	219	---	---	---	---	A	59267899	G	A	59267899	3	1	22	1	0	0	0	0	1	0	0	0	8946	1174	41	2	314	2	LRIG3	12	59267899	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		59267899	74583996	15	1696										
MED13L	23389	broad.mit.edu	37	chr12	116446661	116446661	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	tcatatttcctactgctagaCacctctaaggaggagtctat	7	10	3	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.chr12:116446661C>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			Somatic					p.V519V	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	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	7	97	---	---	---	---	A	116446661	C	A	116446661	2	1	22	1	0	0	0	0	0	0	0	1	9431	465	17	3		3	MED13L	12	116446661	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	57178762	116446661	17405234	16	1697										
P2RX2	22953	broad.mit.edu	37	chr12	133197607	133197607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ggtggtgtcatcggggtcatTatcaactgggactgtgacct	14	8	3	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_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000343948.4_Silent_p.I265I	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	22953				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			Somatic				P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I	p.I265I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	WXS	Illumina GAIIx	Phase_I	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	5	84	---	---	---	---	C	133197607	T	C	133197607	2	2	22	1	0	0	0	0	0	0	0	1	11340	1742	61	2		2	P2RX2	12	133197607	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08	16750946	133197607	654288	17	1698										
MTHFD1	4522	broad.mit.edu	37	chr14	64909059	64909059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ccggtattccggcctctgccCccacgtggtggtgcttgttg	13	14	1	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.chr14:64909059C>G	ENST00000545908.1	+	21	2472	c.2243C>G	c.(2242-2244)cCc>cGc	p.P748R	CTD-2555O16.2_ENST00000556640.1_RNA|CTD-2555O16.4_ENST00000609125.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R			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)	ENST00000545908.1																			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.(2242-2244)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		Somatic				MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R|CTD-2555O16.2_ENST00000556640.1_RNA	p.P748R			WXS	Illumina GAIIx	Phase_I	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	2472	+			692			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2243C>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	5	154	---	---	---	---	G	64909059	C	G	64909059	3	3	22	1	0	0	0	0	1	0	0	0	9927	623	22	4	2157	4	MTHFD1	14	64909059	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		64909059	42440481	18	1699										
AK7	122481	broad.mit.edu	37	chr14	96909069	96909069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	tgcttttcttcctttcagatGgcttggttgggcgagattcc	11	9	2	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.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		Somatic					p.M231I	NM_152327.3	NP_689540.2	WXS	Illumina GAIIx	Phase_I	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	13	402	---	---	---	---	A	96909069	G	A	96909069	3	1	22	1	0	0	0	0	1	0	0	0	444	1348	47	2	719	2	AK7	14	96909069	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	32000010	96909069	10440471	19	1700										
MED1	5469	broad.mit.edu	37	chr17	37566389	37566390	+	Frame_Shift_Del	DEL	TA	TA	-													0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	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)ttafs		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)	Somatic				MED1_ENST00000394287.3_Intron	p.L695fs	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	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	22	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	20	1701										
UBTF	7343	broad.mit.edu	37	chr17	42293143	42293143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ccatgaagaagcggaaataaGgggtcaggggcttctttggg	16	6	2	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.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_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000526094.1_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		Somatic				UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR	p.P118L			WXS	Illumina GAIIx	Phase_I	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	7	162	---	---	---	---	A	42293143	G	A	42293143	3	1	22	1	0	0	0	0	1	0	0	0	16906	1000	35	2	2009	2	UBTF	17	42293143	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	4726754	42293143	38902067	21	1702										
SAMD14	201191	broad.mit.edu	37	chr17	48193048	48193048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	aaccaggaaaaaggcaggaaCggggagccccctgacctgcc	13	13	0	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.chr17:48193048C>T	ENST00000330175.4	-	7	1019	c.702G>A	c.(700-702)ccG>ccA	p.P234P	SAMD14_ENST00000503131.1_Silent_p.P234P|SAMD14_ENST00000503734.1_5'Flank	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			Somatic				SAMD14_ENST00000503131.1_Silent_p.P234P	p.P234P	NM_001257359.1	NP_001244288.1	WXS	Illumina GAIIx	Phase_I	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	7	191	---	---	---	---	T	48193048	C	T	48193048	2	4	22	1	0	0	0	0	0	0	0	1	13819	523	19	2		2	SAMD14	17	48193048	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	5899905	48193048	33002162	22	1703										
SGSH	6448	broad.mit.edu	37	chr17	78188012	78188012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.714516129032258	2.38172043010753	0	1	1	0	ggcctggggggtccagtctgGgatacgacccatgccgctct	15	13	2	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.chr17:78188012G>T	ENST00000326317.6	-	5	708	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T|SGSH_ENST00000570923.1_Silent_p.S219S	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		Somatic				SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T	p.P208T	NM_000199.3	NP_000190.1	WXS	Illumina GAIIx	Phase_I	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	4	31	---	---	---	---	T	78188012	G	T	78188012	3	4	22	1	0	0	0	0	1	0	0	0	14221	1232	43	1	902	1	SGSH	17	78188012	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	29994964	78188012	3007198	23	1704										
MIIP	60672	broad.mit.edu	37	chr1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	catccaccggcgaaagagctTtgacgcctctgacacactgg	10	14	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.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_3'UTR	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		Somatic				MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	p.F304C	NM_021933.3	NP_068752.2	WXS	Illumina GAIIx	Phase_I	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	14	38	---	---	---	---	G	12090150	T	G	12090150	3	3	23	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	1705										
EPS15	2060	broad.mit.edu	37	chr1	51826841	51826841	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	acagctcattcacagtacttAcagcactgaagttggcaaaa	7	10	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.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			Somatic				EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site		NM_001981.2	NP_001972.1	WXS	Illumina GAIIx	Phase_I	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	40	128	---	---	---	---	G	51826841	A	G	51826841	5	3	23	1	0	0	0	0	0	0	1	0	5192	405	14	2	152	2	EPS15	1	51826841	Splice_Site	SNP	A	TCGA-CH-5764-01A-21D-1576-08	39736691	51826841	197423780	2	1706										
CNNM4	26504	broad.mit.edu	37	chr2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	acaataagtactacgcccgcCattacctgtacacccgaaat	5	14	0	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.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_ENST00000496186.1_3'UTR|MIR3127_ENST00000583925.1_RNA|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		Somatic				CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|CNNM4_ENST00000496186.1_3'UTR	p.H600N	NM_020184.3	NP_064569.3	WXS	Illumina GAIIx	Phase_I	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	9	94	---	---	---	---	A	97464910	C	A	97464910	3	1	23	1	0	0	0	0	1	0	0	0	3615	594	21	1	1812	1	CNNM4	2	97464910	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		97464910	145734463	3	1707										
SCN3A	6328	broad.mit.edu	37	chr2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	actgtagcaggtttttcgaaGattccaccagatcttccctt	7	11	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.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	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		Somatic				SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	p.L1195I	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	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	7	289	---	---	---	---	T	165970412	G	T	165970412	3	4	23	1	0	0	0	0	1	0	0	0	13918	942	33	3	2455	3	SCN3A	2	165970412	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	68505502	165970412	77228961	4	1708										
GIGYF2	26058	broad.mit.edu	37	chr2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tgtaaatagtgctgctgtccTgcgattgacaggacgaggag	14	7	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.chr2:233620970T>C	ENST00000409547.1	+	8	616	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000373566.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_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		Somatic				GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P	p.L102P			WXS	Illumina GAIIx	Phase_I	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	3	78	---	---	---	---	C	233620970	T	C	233620970	3	2	23	1	0	0	0	0	1	0	0	0	6378	1580	55	2	319	2	GIGYF2	2	233620970	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	67650558	233620970	9578403	5	1709										
AGTR1	185	broad.mit.edu	37	chr3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tcccaaagctggaaggcataAttacatatttgtcatgattc	7	8	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.chr3:148458896A>C	ENST00000497524.1	+	2	465	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000542281.1_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_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		Somatic				AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T	p.N25T	NM_031850.3	NP_114038.4	WXS	Illumina GAIIx	Phase_I	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	24	168	---	---	---	---	C	148458896	A	C	148458896	3	2	23	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		148458896	49563534	6	1710										
CCDC39	339829	broad.mit.edu	37	chr3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-													0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	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)ttgfs		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		Somatic				CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs	p.L125fs			WXS	Illumina GAIIx	Phase_I	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	23	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	31922847	180381743	17640687	7	1711										
DGKQ	1609	broad.mit.edu	37	chr4	956989	956989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	gggttcagtagcttccggaaGctgcagagcaggtctcggcc	15	11	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.chr4:956989G>T	ENST00000273814.3	-	16	1897	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	608	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.S608R(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCCGGAAGCTGCAGAGCA	0.627																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			1	Substitution - Missense(1)	p.S608R(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1822-1824)agC>agA		diacylglycerol kinase, theta 110kDa							29	33	31					4																	956989		2201	4299	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.chr4:956989G>T	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.1824C>A	4.37:g.956989G>T	ENSP00000273814:p.Ser608Arg		Somatic				DGKQ_ENST00000502309.1_5'UTR	p.S608R	NM_001347.3	NP_001338.2	WXS	Illumina GAIIx	Phase_I	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		16	1897	-			608			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1824C>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.454755|3.454755	0.63290|0.63290	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.20598	.|2.06	5.0|5.0	-0.552|-0.552	0.11818|0.11818	.|Diacylglycerol kinase, catalytic domain (3);	.|0.188277	.|0.56097	.|D	.|0.000031	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.12502|0.12502	0.225|0.225	0.51482|0.51482	D|D	0.999922|0.999922	.|D;P	.|0.57571	.|0.98;0.57	.|P;B	.|0.61070	.|0.883;0.206	T|T	0.03202|0.03202	-1.1061|-1.1061	5|10	.|0.72032	.|D	.|0.01	.|.	9.1584|9.1584	0.37007|0.37007	0.6213:0.0:0.3787:0.0|0.6213:0.0:0.3787:0.0	.|.	.|608;608	.|E9KL49;P52824	.|.;DGKQ_HUMAN	D|R	542|608	.|ENSP00000273814:S608R	.|ENSP00000273814:S608R	A|S	-|-	2|3	0|2	DGKQ|DGKQ	946989|946989	0.857000|0.857000	0.29778|0.29778	0.999000|0.999000	0.59377|0.59377	0.760000|0.760000	0.43138|0.43138	0.062000|0.062000	0.14389|0.14389	-0.005000|-0.005000	0.14395|0.14395	-0.321000|-0.321000	0.08615|0.08615	GCT|AGC		0.627	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	49	3	49	---	---	---	---	T	956989	G	T	956989	3	4	23	1	0	0	0	0	1	0	0	0	4473	962	34	3	1036	3	DGKQ	4	956989	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		956989	190197287	8	1712										
FRAS1	80144	broad.mit.edu	37	chr4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ttctgcttacaaactccagcTggagaaagtctatctttgta	7	9	3	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.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		Somatic					p.L3721Q	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	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	32	238	---	---	---	---	A	79458218	T	A	79458218	3	1	23	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	78501229	79458218	111696058	9	1713										
ADAMTS16	170690	broad.mit.edu	37	chr5	5303543	5303543	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	aggcaggcctgcaactctcaGagctgcccacctgcatggag	12	14	1	1	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			Somatic					p.Q984Q	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	A	5303543	G	A	5303543	2	1	23	1	0	0	0	0	0	0	0	1	261	933	33	2		2	ADAMTS16	5	5303543	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08		5303543	175611717	10	1714										
BMP6	654	broad.mit.edu	37	chr6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ctacaaggactgtgttatggGgagttttaaaaaccaaactt	9	6	0	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.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		Somatic					p.G265E	NM_001718.4	NP_001709.1	WXS	Illumina GAIIx	Phase_I	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	13	164	---	---	---	---	A	7845502	G	A	7845502	3	1	23	1	0	0	0	0	1	0	0	0	1464	1232	43	2	800	2	BMP6	6	7845502	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		7845502	163269565	11	1715										
TFAP2D	83741	broad.mit.edu	37	chr6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tccaaacagttctcagtgaaAtgctgaactacttggaaaaa	7	8	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.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		Somatic					p.M405V	NM_172238.3	NP_758438.2	WXS	Illumina GAIIx	Phase_I	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	33	94	---	---	---	---	G	50740431	A	G	50740431	3	3	23	1	0	0	0	0	1	0	0	0	15787	101	4	2	1243	2	TFAP2D	6	50740431	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	42894929	50740431	120374636	12	1716										
LGSN	51557	broad.mit.edu	37	chr6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	atatacagctgttgtcattgTatccccatgttgtaggcaca	8	9	1	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.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		Somatic				LGSN_ENST00000370658.5_3'UTR	p.Y386C			WXS	Illumina GAIIx	Phase_I	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	132	299	---	---	---	---	C	63990299	T	C	63990299	3	2	23	1	0	0	0	0	1	0	0	0	8759	1638	57	2	376	2	LGSN	6	63990299	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	13249868	63990299	107124768	13	1717										
PRPS1L1	221823	broad.mit.edu	37	chr7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ttcgccacaaccactctgaaCgatgtagacatcctctccac	5	16	2	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		Somatic					p.V56I	NM_175886.2	NP_787082	WXS	Illumina GAIIx	Phase_I	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	9	533	---	---	---	---	T	18067240	C	T	18067240	3	4	23	1	0	0	0	0	1	0	0	0	12579	536	19	2	794	2	PRPS1L1	7	18067240	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		18067240	141071423	14	1718										
AKAP9	10142	broad.mit.edu	37	chr7	91631337	91631337	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	attttggaaatttcaaagctAaaagatttacagcagtctct	6	6	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.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L			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			Somatic				AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L	p.L714L			WXS	Illumina GAIIx	Phase_I	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	3	101	---	---	---	---	G	91631337	A	G	91631337	2	3	23	1	0	0	0	0	0	0	0	1	459	349	13	2		2	AKAP9	7	91631337	Silent	SNP	A	TCGA-CH-5764-01A-21D-1576-08	73564097	91631337	67507326	15	1719										
STAG3	10734	broad.mit.edu	37	chr7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ccctcctcaccagcaccgagAagtccgcctgaagtgtgtga	10	15	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.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	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		Somatic				STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V	p.E358V	NM_001282716.1	NP_001269645.1	WXS	Illumina GAIIx	Phase_I	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	8	146	---	---	---	---	T	99795408	A	T	99795408	3	4	23	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	16	1720										
DEFB135	613209	broad.mit.edu	37	chr8	11841989	11841989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	cttcatgttggcgactgcaaGgtacttgccggccaaaatgt	11	10	1	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.chr8:11841989G>T	ENST00000382208.2	+	2	124	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	42					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.G42C(1)		endometrium(1)|large_intestine(2)|prostate(1)	4						GCGACTGCAAGGTACTTGCCG	0.383																																						ENST00000382208.2																			1	Substitution - Missense(1)	p.G42C(1)	prostate(1)	endometrium(1)|large_intestine(2)|prostate(1)	4						c.(124-126)Ggt>Tgt		defensin, beta 135							102	100	101					8																	11841989		1898	4112	6010	SO:0001583	missense	613209				defense response to bacterium	extracellular region		g.chr8:11841989G>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"Defensins, beta"	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.124G>T	8.37:g.11841989G>T	ENSP00000371643:p.Gly42Cys		Somatic					p.G42C	NM_001033017.2	NP_001028189.2	WXS	Illumina GAIIx	Phase_I	Q30KP9	DB135_HUMAN			2	124	+			42					Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	c.124G>T	CCDS43710.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398766	0.42512	.	.	ENSG00000205883	ENST00000382208	T	0.63417	-0.04	3.34	3.34	0.38264	.	0.000000	0.32655	N	0.005811	T	0.74884	0.3775	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64071	-0.6493	9	0.87932	D	0	-20.7073	10.4608	0.44578	0.0:0.0:1.0:0.0	.	42	Q30KP9	DB135_HUMAN	C	42	ENSP00000371643:G42C	ENSP00000371643:G42C	G	+	1	0	DEFB135	11879398	0.451000	0.25705	0.036000	0.18154	0.002000	0.02628	2.965000	0.49200	2.157000	0.67596	0.561000	0.74099	GGT		0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		4	136	4	136	---	---	---	---	T	11841989	G	T	11841989	3	4	23	1	0	0	0	0	1	0	0	0	4419	1000	35	1	130	1	DEFB135	8	11841989	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		11841989	134522033	17	1721										
PTDSS1	9791	broad.mit.edu	37	chr8	97342509	97342509	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	cactatggtcaccgagaaaaGgtatggaaggagaggcaggc	15	7	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.chr8:97342509G>T	ENST00000517309.1	+	11	1568	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PTDSS1_ENST00000522072.1_Splice_Site_p.K211N|PTDSS1_ENST00000455950.2_Splice_Site_p.K268N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	414					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)	p.K414N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACCGAGAAAAGGTATGGAAGG	0.473																																						ENST00000517309.1																			1	Substitution - Missense(1)	p.K414N(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1240-1242)aaG>aaT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						114	99	104					8																	97342509		2203	4300	6503	SO:0001630	splice_region_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97342509G>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.1242+1G>T	8.37:g.97342509G>T			Somatic				PTDSS1_ENST00000522072.1_Splice_Site_p.K211N|PTDSS1_ENST00000455950.2_Splice_Site_p.K268N	p.K414N	NM_014754.1	NP_055569.1	WXS	Illumina GAIIx	Phase_I	P48651	PTSS1_HUMAN			11	1568	+	Breast(36;6.18e-05)		414					E5RFC5|Q9BUQ5	Splice_Site	SNP	ENST00000517309.1	37	c.1242G>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041057	0.55003	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.52295	0.79;0.78;0.67	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.42245	1.32	0.80722	D	1	P	0.40000	0.698	B	0.33454	0.164	T	0.35943	-0.9768	10	0.46703	T	0.11	-20.6926	16.5306	0.84357	0.0:0.0:1.0:0.0	.	414	P48651	PTSS1_HUMAN	N	414;268;211	ENSP00000430548:K414N;ENSP00000401248:K268N;ENSP00000430928:K211N	ENSP00000401248:K268N	K	+	3	2	PTDSS1	97411685	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	7.900000	0.87376	2.631000	0.89168	0.561000	0.74099	AAG		0.473	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		Missense_Mutation	4	93	4	93	---	---	---	---	T	97342509	G	T	97342509	5	4	23	1	0	0	0	0	0	0	1	0	12736	1014	35	1	1284	1	PTDSS1	8	97342509	Splice_Site	SNP	G	TCGA-CH-5764-01A-21D-1576-08	85500520	97342509	49021513	18	1722										
FAM108B1	51104	broad.mit.edu	37	chr9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	gcattcccgaagtcagaggaGaatgaagaataacagcagca	11	8	1	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.chr9:74485071G>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		Somatic				ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	p.S192F	NM_001025780.1	NP_001020951.1	WXS	Illumina GAIIx	Phase_I					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	74	225	---	---	---	---	A	74485071	G	A	74485071	3	1	23	1	0	0	0	0	1	0	0	0	5392	942	33	2	330	2	FAM108B1	9	74485071	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		74485071	66728360	19	1723										
TBC1D2	55357	broad.mit.edu	37	chr9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ctggaggttcatggcctgttCcctgggcctgcttgttgcca	13	12	1	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.chr9:100995790C>T	ENST00000375064.1	-	4	727	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375066.5_Missense_Mutation_p.G230E	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		Somatic				TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	p.G230E	NM_018421.3	NP_060891.3	WXS	Illumina GAIIx	Phase_I	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	24	245	---	---	---	---	T	100995790	C	T	100995790	3	4	23	1	0	0	0	0	1	0	0	0	15605	855	30	2	2104	2	TBC1D2	9	100995790	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	26510719	100995790	40217641	20	1724										
TNC	3371	broad.mit.edu	37	chr9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	gggctgcggcacagccacagGcccggcgggggatgttgatg	19	11	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_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_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		Somatic				TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D	p.A110D	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	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	64	531	---	---	---	---	T	117852969	G	T	117852969	3	4	23	1	0	0	0	0	1	0	0	0	16267	1203	42	3	6384	3	TNC	9	117852969	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	16857179	117852969	23360462	21	1725										
NUCB2	4925	broad.mit.edu	37	chr11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	aaaaacattgaatgaagaaaAgagaaaagaagaagagtcta	9	2	1	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.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_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		Somatic				NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T	p.K199T	NM_005013.2	NP_005004	WXS	Illumina GAIIx	Phase_I	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	6	299	---	---	---	---	C	17332484	A	C	17332484	3	2	23	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	22	1726										
TMEM5	10329	broad.mit.edu	37	chr12	64173824	64173824	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tacgctgcctaccacgtcttCttcgggcgccgccgccaggc	11	18	2	0	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			Somatic				RP11-415I12.3_ENST00000509615.2_RNA	p.F28F	NM_014254.1	NP_055069.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	T	64173824	C	T	64173824	2	4	23	1	0	0	0	0	0	0	0	1	16171	912	32	2		2	TMEM5	12	64173824	Silent	SNP	C	TCGA-CH-5764-01A-21D-1576-08		64173824	69678071	23	1727										
TBC1D15	64786	broad.mit.edu	37	chr12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ctacatttttgacagtttgaGaggcagcgatccctctacac	8	11	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.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		Somatic				TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K	p.R262K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	WXS	Illumina GAIIx	Phase_I	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	5	200	---	---	---	---	A	72288542	G	A	72288542	3	1	23	1	0	0	0	0	1	0	0	0	15601	942	33	2	939	2	TBC1D15	12	72288542	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	8114718	72288542	61563353	24	1728										
BRCA2	675	broad.mit.edu	37	chr13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tcagactgcaagtgggaaaaAtattagtgtcgccaaagagt	11	6	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.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)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	p.N1435T	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	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	26	237	---	---	---	---	C	32912796	A	C	32912796	3	2	23	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	25	1729										
MYH6	4624	broad.mit.edu	37	chr14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	gctcattggggatgatgcaaCgcacaaagtgaggatgggtg	16	6	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.chr14:23866411C>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		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	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	7	305	---	---	---	---	T	23866411	C	T	23866411	3	4	23	1	0	0	0	0	1	0	0	0	10038	536	19	2	3893	2	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		23866411	83483129	26	1730										
CLEC14A	161198	broad.mit.edu	37	chr14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tgcacaggtagccgttggcgCgcaggtggcatcgcatctcc	14	13	1	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.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		Somatic					p.R165L	NM_175060.2	NP_778230.1	WXS	Illumina GAIIx	Phase_I	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	16	52	---	---	---	---	A	38724734	C	A	38724734	3	1	23	1	0	0	0	0	1	0	0	0	3499	768	27	3	982	3	CLEC14A	14	38724734	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	14858323	38724734	68624806	27	1731										
ARG2	384	broad.mit.edu	37	chr14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tcaaaccttgtatctcttctGcaagtattgtgtatattggt	7	7	3	0	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		Somatic				ARG2_ENST00000556491.1_3'UTR	p.A191P	NM_001172.3	NP_001163.1	WXS	Illumina GAIIx	Phase_I	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	7	239	---	---	---	---	C	68113409	G	C	68113409	3	2	23	1	0	0	0	0	1	0	0	0	858	1319	46	4	589	4	ARG2	14	68113409	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	29388675	68113409	39236131	28	1732										
SETD1A	9739	broad.mit.edu	37	chr16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	ccccgccgccaccgccccgcGcctacgagccacgcagtgag	11	22	0	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		Somatic					p.A1414T	NM_014712.1	NP_055527.1	WXS	Illumina GAIIx	Phase_I	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	7	14	---	---	---	---	A	30991347	G	A	30991347	3	1	23	1	0	0	0	0	1	0	0	0	14130	1087	38	2	4290	2	SETD1A	16	30991347	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		30991347	59363406	29	1733										
ZNF423	23090	broad.mit.edu	37	chr16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	gcacagggcgcacttgtagaGcttctgcagcccctggccat	12	14	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.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000535559.1_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		Somatic				ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F	p.L1063F	NM_001271620.1	NP_001258549.1	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	49669876	G	A	49669876	3	1	23	1	0	0	0	0	1	0	0	0	17895	971	34	2	687	2	ZNF423	16	49669876	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	18678529	49669876	40684877	30	1734										
PHLPP2	23035	broad.mit.edu	37	chr16	71718485	71718485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	tgaaagcaagggagtattgcCgtcgcttcacttcttctatc	9	10	3	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.chr16:71718485C>A	ENST00000568954.1	-	5	1007	c.629G>T	c.(628-630)cGg>cTg	p.R210L	PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R210L|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	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)	p.R210L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGAGTATTGCCGTCGCTTCAC	0.473																																						ENST00000393524.2																			1	Substitution - Missense(1)	p.R210L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(628-630)cGg>cTg		PH domain and leucine rich repeat protein phosphatase 2							56	54	54					16																	71718485		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718485C>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.629G>T	16.37:g.71718485C>A	ENSP00000457991:p.Arg210Leu		Somatic				PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L	p.R210L			WXS	Illumina GAIIx	Phase_I	Q6ZVD8	PHLP2_HUMAN			4	1362	-			210			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.629G>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478450	0.84747	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.36157	1.27;1.27;1.27	4.82	4.82	0.62117	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	L	0.54323	1.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.53535	-0.8425	10	0.40728	T	0.16	-13.4761	17.2613	0.87070	0.0:1.0:0.0:0.0	.	210;210	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	L	17;210;210;210;210	ENSP00000353610:R210L;ENSP00000348611:R210L;ENSP00000377159:R210L	ENSP00000299971:R17L	R	-	2	0	PHLPP2	70275986	0.407000	0.25352	0.996000	0.52242	0.995000	0.86356	2.588000	0.46137	2.357000	0.79964	0.561000	0.74099	CGG		0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	76	3	76	---	---	---	---	A	71718485	C	A	71718485	3	1	23	1	0	0	0	0	1	0	0	0	11855	652	23	1	3402	1	PHLPP2	16	71718485	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	22048609	71718485	18636268	31	1735										
DOT1L	84444	broad.mit.edu	37	chr19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.853525798085268	2.74683544303797	0	2.99654775604143	0.0476190476190476	1	0	aggggaggaagatggctggcCgcaagcgcgggcgccccaag	19	11	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.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		Somatic					p.R409C	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	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	9	129	---	---	---	---	T	2210728	C	T	2210728	3	4	23	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	32	1736										
MRPL20	55052	broad.mit.edu	37	chr1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ccataccttaactaaattccCaatgagcgctggatacttca	5	12	1	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.chr1:1341203C>A	ENST00000344843.7	-	3	357	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000493287.1_5'UTR|MRPL20_ENST00000482352.1_Missense_Mutation_p.G88W|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		Somatic				MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR	p.G88W			WXS	Illumina GAIIx	Phase_I	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	13	289	---	---	---	---	A	1341203	C	A	1341203	3	1	24	1	0	0	0	0	1	0	0	0	9786	594	21	1	195	1	MRPL20	1	1341203	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		1341203	247909418	1	1737										
FLG	2312	broad.mit.edu	37	chr1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ttgcctgttcatgggatgacGcagcctgtccaccagaggaa	12	11	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_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_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		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1019V	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	288	577	---	---	---	---	A	152284306	G	A	152284306	3	1	24	1	0	0	0	0	1	0	0	0	5922	1087	38	2	9133	2	FLG	1	152284306	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	150943103	152284306	96966315	2	1738										
FCRL5	83416	broad.mit.edu	37	chr1	157504477	157504477	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	gctgtgcagtagtaattcccTgaatgtccttcagtcagaga	10	9	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.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S|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			Somatic				FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S|FCRL5_ENST00000368191.3_Silent_p.S451S	p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	WXS	Illumina GAIIx	Phase_I	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	31	55	---	---	---	---	C	157504477	T	C	157504477	2	2	24	1	0	0	0	0	0	0	0	1	5798	1567	55	2		2	FCRL5	1	157504477	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	5220171	157504477	91746144	3	1739										
CD244	51744	broad.mit.edu	37	chr1	160811398	160811398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tacaaaaacctggaacgtggCtgtctgaacttttccagata	8	9	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.chr1:160811398C>A	ENST00000368033.3	-	2	437	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.A119S|CD244_ENST00000322302.7_Missense_Mutation_p.A119S|CD244_ENST00000368032.2_Missense_Mutation_p.A119S			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	119	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGAACGTGGCTGTCTGAACT	0.463																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(355-357)Gcc>Tcc		CD244 molecule, natural killer cell receptor 2B4							57	57	57					1																	160811398		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811398C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.355G>T	1.37:g.160811398C>A	ENSP00000357012:p.Ala119Ser		Somatic				CD244_ENST00000322302.7_Missense_Mutation_p.A119S|CD244_ENST00000368033.3_Missense_Mutation_p.A119S|CD244_ENST00000368032.2_Missense_Mutation_p.A119S	p.A119S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	WXS	Illumina GAIIx	Phase_I	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	532	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		119			Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.355G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	6.500	0.460489	0.12342	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.45276	1.16;0.9;0.9;1.16	4.36	-8.07	0.01098	Immunoglobulin subtype (1);Natural killer cell receptor 2B4 immunoglobulin domain (1);Immunoglobulin-like fold (1);	4.924670	0.00166	N	0.000016	T	0.13713	0.0332	L	0.36672	1.1	0.09310	N	1	P;B;B	0.40834	0.73;0.441;0.098	B;B;B	0.44224	0.444;0.206;0.049	T	0.29427	-1.0012	10	0.38643	T	0.18	-0.9466	3.6726	0.08280	0.101:0.4072:0.1255:0.3663	.	119;119;119	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	S	119	ENSP00000357013:A119S;ENSP00000357012:A119S;ENSP00000313619:A119S;ENSP00000357011:A119S	ENSP00000313619:A119S	A	-	1	0	CD244	159078022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.771000	0.01789	-1.859000	0.01156	-0.793000	0.03317	GCC		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		4	122	4	122	---	---	---	---	A	160811398	C	A	160811398	3	1	24	1	0	0	0	0	1	0	0	0	2987	797	28	3	789	3	CD244	1	160811398	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	3306921	160811398	88439223	4	1740										
DHX57	90957	broad.mit.edu	37	chr2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ctcttcctctaaaagggttaTcaaagaatatacgacaggtt	7	8	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.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	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		Somatic				DHX57_ENST00000479345.2_5'UTR	p.I412V	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	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	106	149	---	---	---	---	C	39088318	T	C	39088318	3	2	24	1	0	0	0	0	1	0	0	0	4513	1435	50	2	3006	2	DHX57	2	39088318	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		39088318	204111055	5	1741										
MYNN	55892	broad.mit.edu	37	chr3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	aagaacactctatgtctaatAtagccagcgtcaagagtcct	7	10	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.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	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	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		Somatic				MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V	p.I277V	NM_018657.4	NP_061127.1	WXS	Illumina GAIIx	Phase_I	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	28	59	---	---	---	---	G	169497118	A	G	169497118	3	3	24	1	0	0	0	0	1	0	0	0	10061	449	16	2	835	2	MYNN	3	169497118	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		169497118	28525312	6	1742										
OPA1	4976	broad.mit.edu	37	chr3	193374887	193374887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	aggttgcttgggagaccctaCaagaagaattttcccgcttt	10	9	0	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.chr3:193374887C>A	ENST00000392438.3	+	21	2266	c.2032C>A	c.(2032-2034)Caa>Aaa	p.Q678K	OPA1_ENST00000361715.2_Missense_Mutation_p.Q697K|OPA1_ENST00000361510.2_Missense_Mutation_p.Q733K|OPA1_ENST00000361150.2_Missense_Mutation_p.Q679K|OPA1_ENST00000361908.3_Missense_Mutation_p.Q715K|OPA1_ENST00000361828.2_Missense_Mutation_p.Q696K	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	678					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)		GGAGACCCTACAAGAAGAATT	0.343																																						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.(2197-2199)Caa>Aaa		optic atrophy 1 (autosomal dominant)							66	71	70					3																	193374887		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.chr3:193374887C>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.2032C>A	3.37:g.193374887C>A	ENSP00000376233:p.Gln678Lys		Somatic				OPA1_ENST00000361150.2_Missense_Mutation_p.Q679K|OPA1_ENST00000361715.2_Missense_Mutation_p.Q697K|OPA1_ENST00000392438.3_Missense_Mutation_p.Q678K|OPA1_ENST00000361908.3_Missense_Mutation_p.Q715K|OPA1_ENST00000361828.2_Missense_Mutation_p.Q696K	p.Q733K	NM_130837.2	NP_570850.2	WXS	Illumina GAIIx	Phase_I	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)	23	2431	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		678					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2197C>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699765	0.68501	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94828	-3.11;-3.1;-3.09;-3.1;-3.1;-3.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45051	1.395	0.80722	D	1	B;D;B;B;P;B;D;B	0.59357	0.023;0.965;0.023;0.023;0.94;0.023;0.985;0.041	B;B;B;B;B;B;B;B	0.43950	0.017;0.437;0.017;0.032;0.416;0.032;0.437;0.032	D	0.90647	0.4579	10	0.22706	T	0.39	-17.2609	18.996	0.92813	0.0:1.0:0.0:0.0	.	642;678;660;679;696;715;697;733	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	K	715;678;733;697;696;679	ENSP00000354681:Q715K;ENSP00000376233:Q678K;ENSP00000355324:Q733K;ENSP00000355311:Q697K;ENSP00000354429:Q696K;ENSP00000354781:Q679K	ENSP00000354781:Q679K	Q	+	1	0	OPA1	194857581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.722000	0.93159	0.655000	0.94253	CAA		0.343	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		4	201	4	201	---	---	---	---	A	193374887	C	A	193374887	3	1	24	1	0	0	0	0	1	0	0	0	10871	479	17	3	2287	3	OPA1	3	193374887	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	23877769	193374887	4647543	7	1743										
ADH4	127	broad.mit.edu	37	chr4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tttccacaatacctgcagccTcatggccaacgatcactggg	8	14	2	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.chr4:100062745T>C	ENST00000265512.7	-	3	283	c.209A>G	c.(208-210)gAg>gGg	p.E70G	ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|ADH4_ENST00000504581.1_5'Flank|ADH4_ENST00000508393.1_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		Somatic				ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G	p.E89G			WXS	Illumina GAIIx	Phase_I	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	3	101	---	---	---	---	C	100062745	T	C	100062745	3	2	24	1	0	0	0	0	1	0	0	0	310	1551	54	2	961	2	ADH4	4	100062745	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		100062745	91091531	8	1744										
TNIP3	79931	broad.mit.edu	37	chr4	122063932	122063932	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tccatctgacaagcttttatCtaaagacaaaacaaaggcat	5	9	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.chr4:122063932C>A	ENST00000509841.1	-	11	1045		c.e11-1		TNIP3_ENST00000454328.1_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site|TNIP3_ENST00000057513.3_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			Somatic				TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	34	163	---	---	---	---	A	122063932	C	A	122063932	5	1	24	1	0	0	0	0	0	0	1	0	16313	927	32	3	258	3	TNIP3	4	122063932	Splice_Site	SNP	C	TCGA-CH-5765-01A-11D-1576-08	22001187	122063932	69090344	9	1745										
NEK1	4750	broad.mit.edu	37	chr4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ataccatatgtccttcggctCgagctttattctgcatagct	7	11	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.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q	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		Somatic				NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q	p.R550Q	NM_012224.2	NP_036356.1	WXS	Illumina GAIIx	Phase_I	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	11	503	---	---	---	---	T	170458976	C	T	170458976	3	4	24	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	10	1746										
PCDHA3	56145	broad.mit.edu	37	chr5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	14	13	0	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|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	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	56145							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		Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000520672.2_Intron	p.R65W	NM_018906.2	NP_061729.1	WXS	Illumina GAIIx	Phase_I			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	5	231	---	---	---	---	T	140180975	C	T	140180975	3	4	24	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		140180975	40734285	11	1747										
PCDHB5	26167	broad.mit.edu	37	chr5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ccaccacaattcgcattgtcGtcttggataataatgacaac	6	11	1	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.chr5:140515710G>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	26167				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		Somatic					p.V232I	NM_015669.2	NP_056484.1	WXS	Illumina GAIIx	Phase_I	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	33	433	---	---	---	---	A	140515710	G	A	140515710	3	1	24	1	0	0	0	0	1	0	0	0	11545	1145	40	2	696	2	PCDHB5	5	140515710	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	334735	140515710	40399550	12	1748										
PCDHB13	56123	broad.mit.edu	37	chr5	140595717	140595717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	cagccctacctgcctctcccGgaggcggccccgacccaggc	11	21	1	0	rs61739278		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.chr5:140595717G>T	ENST00000341948.4	+	1	2209	c.2022G>T	c.(2020-2022)ccG>ccT	p.P674P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	674					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)			TGCCTCTCCCGGAGGCGGCCC	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		15653	0		0	False		,,,				2504	0					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.(2020-2022)ccG>ccT				G		1,4323		0,1,2161	58	65	63		2022	-6.6	0	5	dbSNP_129	63	0,8452		0,0,4226	no	coding-synonymous	PCDHB13	NM_018933.2		0,1,6387	TT,TG,GG		0.0,0.0231,0.0078		674/799	140595717	1,12775	2162	4226	6388	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595717G>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.2022G>T	5.37:g.140595717G>T			Somatic					p.P674P	NM_018933.2	NP_061756.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2209	+			674					A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2022G>T	CCDS4255.1																																																																																				0.677	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		4	199	4	199	---	---	---	---	T	140595717	G	T	140595717	2	4	24	1	0	0	0	0	0	0	0	1	11538	1103	39	1		1	PCDHB13	5	140595717	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	80007	140595717	40319543	13	1749										
NRCAM	4897	broad.mit.edu	37	chr7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tttccaaagttccattttcaTgtaaaacataaatatcttca	2	8	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.chr7:107834822T>A	ENST00000425651.2	-	13	1513	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000379028.3_Missense_Mutation_p.H505L	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		Somatic				NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L	p.H505L			WXS	Illumina GAIIx	Phase_I	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	62	116	---	---	---	---	A	107834822	T	A	107834822	3	1	24	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	14	1750										
SYK	6850	broad.mit.edu	37	chr9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	cctggaccgaaagctgctgaCgctggaagacaaagaactgg	13	10	0	3	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_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375746.1_Missense_Mutation_p.T371M|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		Somatic				SYK_ENST00000375746.1_Missense_Mutation_p.T371M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375747.1_Missense_Mutation_p.T348M	p.T371M	NM_003177.5	NP_003168.2	WXS	Illumina GAIIx	Phase_I	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	13	315	---	---	---	---	T	93637062	C	T	93637062	3	4	24	1	0	0	0	0	1	0	0	0	15435	536	19	2	1142	2	SYK	9	93637062	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		93637062	47576369	15	1751										
DDX50	79009	broad.mit.edu	37	chr10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tgttggaaaaatgactcaaaAggctgcaactactgtggaag	11	6	1	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.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		Somatic					p.K357R	NM_024045.1	NP_076950.1	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	G	70673941	A	G	70673941	3	3	24	1	0	0	0	0	1	0	0	0	4368	72	3	2	1096	2	DDX50	10	70673941	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		70673941	64860806	16	1752										
OR52R1	119695	broad.mit.edu	37	chr11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tgaatctcatgagcatgaaaCcagaatatggccaacatctt	7	9	2	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.chr11:4825344C>A	ENST00000356069.2	-	1	266	c.267G>T	c.(265-267)tgG>tgT	p.W89C	OR52R1_ENST00000380382.1_Missense_Mutation_p.W168C|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	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		Somatic				OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.W168C			WXS	Illumina GAIIx	Phase_I	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	31	56	---	---	---	---	A	4825344	C	A	4825344	3	1	24	1	0	0	0	0	1	0	0	0	11131	508	18	3	683	3	OR52R1	11	4825344	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		4825344	130181172	17	1753										
GIF	2694	broad.mit.edu	37	chr11	59608634	59608634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	acctgcatggcgaggccagtActgtagatgtctccaatgat	11	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.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			Somatic				GIF_ENST00000257248.2_Silent_p.S225S	p.S200S			WXS	Illumina GAIIx	Phase_I	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	57	101	---	---	---	---	G	59608634	A	G	59608634	2	3	24	1	0	0	0	0	0	0	0	1	6376	388	14	2		2	GIF	11	59608634	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	54783290	59608634	75397882	18	1754										
DUSP16	80824	broad.mit.edu	37	chr12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	agaaggaacgcttgagcttaTtgctgtcttccagcctgtct	10	10	2	2	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		Somatic				DUSP16_ENST00000298573.4_3'UTR	p.N394S	NM_030640.2	NP_085143.1	WXS	Illumina GAIIx	Phase_I	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	53	91	---	---	---	---	C	12630584	T	C	12630584	3	2	24	1	0	0	0	0	1	0	0	0	4816	1493	52	2	820	2	DUSP16	12	12630584	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		12630584	121221311	19	1755										
HNF1A	6927	broad.mit.edu	37	chr12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ggccaccaccctccacgtccCcagccaggaccctgccagca	8	22	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	RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L			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		Somatic				HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L|HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L	p.P568L			WXS	Illumina GAIIx	Phase_I	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	14	15	---	---	---	---	T	121437365	C	T	121437365	3	4	24	1	0	0	0	0	1	0	0	0	7251	623	22	2	1737	2	HNF1A	12	121437365	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	108806781	121437365	12414530	20	1756										
CLIP1	6249	broad.mit.edu	37	chr12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ttgttgattctgcaaattttCtatttcgtgttggtaatcta	7	5	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.chr12:122825728C>A	ENST00000540338.1	-	10	2064	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000358808.2_Nonsense_Mutation_p.E664*			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*		Somatic				CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*	p.E664*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina GAIIx	Phase_I	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	147	255	---	---	---	---	A	122825728	C	A	122825728	4	1	24	1	0	0	0	0	0	1	0	0	3532	922	32	3	2357	3	CLIP1	12	122825728	Nonsense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	1388363	122825728	11026167	21	1757										
MTUS2	23281	broad.mit.edu	37	chr13	29599666	29599666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	agtgagcacacatcacattcCgcccatccagagcctgctct	7	16	2	2	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			Somatic					p.S287S	NM_001033602.2	NP_001028774.2	WXS	Illumina GAIIx	Phase_I	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	12	23	---	---	---	---	T	29599666	C	T	29599666	2	4	24	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	22	1758										
ZNF828	283489	broad.mit.edu	37	chr13	115090481	115090481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tctccccctgcatctcctgaGtcatggaagtctggcccacc	8	17	4	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.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			Somatic					p.E388E	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina GAIIx	Phase_I	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	13	231	---	---	---	---	A	115090481	G	A	115090481	2	1	24	1	0	0	0	0	0	0	0	1	18178	1020	36	2		2	ZNF828	13	115090481	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	85490815	115090481	79397	23	1759										
EFS	10278	broad.mit.edu	37	chr14	23828655	23828655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	ttggggcctccataaccaggCaggcggggtgggggtggggg	22	8	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.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_ENST00000351354.3_Silent_p.L251L|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000429593.2_Silent_p.L175L	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	10278				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			Somatic				EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	p.L344L	NM_005864.2	NP_005855.1	WXS	Illumina GAIIx	Phase_I	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	33	61	---	---	---	---	T	23828655	C	T	23828655	2	4	24	1	0	0	0	0	0	0	0	1	4959	697	25	2		2	EFS	14	23828655	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		23828655	83520885	24	1760										
NOVA1	4857	broad.mit.edu	37	chr14	26917261	26917261	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	gcctgtgttgcagctggtgtTccagtaatggttaccttccg	12	10	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.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			Somatic				NOVA1_ENST00000465357.2_Silent_p.G452G|NOVA1_ENST00000267422.7_Silent_p.G354G	p.G476G	NM_002515.2	NP_002506.2	WXS	Illumina GAIIx	Phase_I	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	50	90	---	---	---	---	C	26917261	T	C	26917261	2	2	24	1	0	0	0	0	0	0	0	1	10554	1770	62	2		2	NOVA1	14	26917261	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	3088606	26917261	80432279	25	1761										
DDX19B	11269	broad.mit.edu	37	chr16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tcaccattgctcaagccatgAtcttctgccatgtgagtagc	8	12	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.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|RP11-529K1.3_ENST00000567706.1_Intron|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V	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		Somatic				DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V	p.I338V	NM_007242.5	NP_009173.1	WXS	Illumina GAIIx	Phase_I	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	11	150	---	---	---	---	G	70363960	A	G	70363960	3	3	24	1	0	0	0	0	1	0	0	0	4347	333	12	2	1046	2	DDX19B	16	70363960	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		70363960	19990793	26	1762										
ESCO1	114799	broad.mit.edu	37	chr18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-													0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	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)gatdel		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		Somatic					p.D467del	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	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	24	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	27	1763										
CNDP1	84735	broad.mit.edu	37	chr18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	acgtgcagcctgctgaccggGgcgatgggtggctcacggac	17	12	1	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.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		Somatic				CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S	p.G98S			WXS	Illumina GAIIx	Phase_I	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	87	132	---	---	---	---	A	72228208	G	A	72228208	3	1	24	1	0	0	0	0	1	0	0	0	3593	1232	43	2	435	2	CNDP1	18	72228208	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	53074804	72228208	5849040	28	1764										
GPATCH1	55094	broad.mit.edu	37	chr19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	acgtttgagtggcaccctgaCaagcttctatgtaagagatt	10	8	1	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.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		Somatic					p.D616E	NM_018025.2	NP_060495.2	WXS	Illumina GAIIx	Phase_I	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	44	85	---	---	---	---	A	33603475	C	A	33603475	3	1	24	1	0	0	0	0	1	0	0	0	6590	477	17	3	1898	3	GPATCH1	19	33603475	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		33603475	25525508	29	1765										
ZNF223	7766	broad.mit.edu	37	chr19	44564709	44564709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	tatcgagatgtgatgctggaGaacttcaggaacctgctgtc	12	8	1	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.chr19:44564709G>A	ENST00000434772.3	+	3	372	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZNF223_ENST00000585552.1_Silent_p.E39E|ZNF223_ENST00000588518.1_Intron|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			Somatic				ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000434772.3_Silent_p.E39E|ZNF223_ENST00000585552.1_Silent_p.E39E	p.E149E			WXS	Illumina GAIIx	Phase_I	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	97	191	---	---	---	---	A	44564709	G	A	44564709	2	1	24	1	0	0	0	0	0	0	0	1	17774	933	33	2		2	ZNF223	19	44564709	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	10961234	44564709	14564274	30	1766										
NLRP5	126206	broad.mit.edu	37	chr19	56539873	56539873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	gcatgtcctgtggtccctctAtggtgagtaccccaggcagt	12	12	1	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.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			Somatic					p.L758L	NM_153447.4	NP_703148.4	WXS	Illumina GAIIx	Phase_I	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	8	346	---	---	---	---	G	56539873	A	G	56539873	2	3	24	1	0	0	0	0	0	0	0	1	10480	436	16	2		2	NLRP5	19	56539873	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	11975164	56539873	2589110	31	1767										
CHD6	84181	broad.mit.edu	37	chr20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.617790811339198	NA	0.617790811339198	1	1	0	atggagatttgtagtcaaaaTtgacagaggcatcagacatt	10	5	2	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	84181				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		Somatic				CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	p.N29S	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	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	80	101	---	---	---	---	C	40162157	T	C	40162157	3	2	24	1	0	0	0	0	1	0	0	0	3329	1493	52	2	8201	2	CHD6	20	40162157	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		40162157	22863363	32	1768										
TCEB3	6924	broad.mit.edu	37	chr1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tcagctttaaccccagccctGaggagccggcctatgatggc	11	14	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.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*		Somatic				TCEB3_ENST00000609199.1_Nonsense_Mutation_p.E720*	p.E746*	NM_003198.2	NP_003189.2	WXS	Illumina GAIIx	Phase_I	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	11	205	---	---	---	---	T	24083516	G	T	24083516	4	4	25	1	0	0	0	0	0	1	0	0	15678	1291	45	3	2274	3	TCEB3	1	24083516	Nonsense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		24083516	225167105	1	1769										
KIF26B	55083	broad.mit.edu	37	chr1	245849237	245849237	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gataaggaagataatgggtcCgaaggtcagctgaccaacag	13	7	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.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			Somatic				KIF26B_ENST00000407071.2_Silent_p.S984S	p.S603S			WXS	Illumina GAIIx	Phase_I	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	4	25	---	---	---	---	A	245849237	C	A	245849237	2	1	25	1	0	0	0	0	0	0	0	1	8295	639	23	1		1	KIF26B	1	245849237	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	221765721	245849237	3401384	2	1770										
CTNNA2	1496	broad.mit.edu	37	chr2	80874842	80874843	+	Missense_Mutation	DNP	GT	GT	CA													0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	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.chr2:80874842_80874843GT>CA	ENST00000402739.4	+	18	2712_2713	c.2707_2708GT>CA	c.(2707-2709)GTt>CAt	p.V903H	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889H|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V855H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855H	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						CAACTCACCTGTTGTGTCTTGG	0.47																																						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|c.(2563-2565)gTt>gAt		catenin (cadherin-associated protein), alpha 2																																				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|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	Exception_encountered	2.37:g.80874842_80874843delinsCA	ENSP00000384638:p.Val903His		Somatic				CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D	p.V855L|p.V855D			WXS	Illumina GAIIx	Phase_I	P26232	CTNA2_HUMAN			22	3287|3288	+			903					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2563G>C|c.2564T>A																																																																																					0.47	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	277|276	6	276	---	---	---	---	CA	80874843	GT	CA	80874842	3	2	25	1	0	0	0	0	1	0	0	0	4013	1377	48	4	2421	4	CTNNA2	2	80874842	Missense_Mutation	DNP	GT	TCGA-CH-5766-01A-11D-1576-08		80874842	162324531	3	1771										
LCT	3938	broad.mit.edu	37	chr2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	aggcagatttcctgggagtcCttgacttgctgctgtcgctg	13	10	0	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.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		Somatic					p.R829M	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	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	5	302	---	---	---	---	A	136567431	C	A	136567431	3	1	25	1	0	0	0	0	1	0	0	0	8693	681	24	1	3337	1	LCT	2	136567431	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	55692589	136567431	106631942	4	1772										
SCN7A	6332	broad.mit.edu	37	chr2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ttttaacataggcaaaattaTacattccaaatacggcatag	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.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		Somatic					p.Y1400C	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	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	22	151	---	---	---	---	C	167262940	T	C	167262940	3	2	25	1	0	0	0	0	1	0	0	0	13923	1406	49	2	853	2	SCN7A	2	167262940	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	30695509	167262940	75936433	5	1773										
TTN	7273	broad.mit.edu	37	chr2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tccacaatatatccagtcacTtgggagccaccgtcatcctc	6	15	2	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.chr2:179406214T>A	ENST00000591111.1	-	300	92891	c.92667A>T	c.(92665-92667)caA>caT	p.Q30889H	TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q32530H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000590932.1_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		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.Q32530H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	11	30	---	---	---	---	A	179406214	T	A	179406214	3	1	25	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	6	1774										
TTN	7273	broad.mit.edu	37	chr2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gatttggtctgggggcatcaCcacgttgtcagaatgctctt	12	9	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.chr2:179604912C>G	ENST00000591111.1	-	46	12321	c.12097G>C	c.(12097-12099)Gtg>Ctg	p.V4033L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000589042.1_Missense_Mutation_p.V4350L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L			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		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA	p.V4350L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	16	137	---	---	---	---	G	179604912	C	G	179604912	3	3	25	1	0	0	0	0	1	0	0	0	16732	507	18	4	91741	4	TTN	2	179604912	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	198698	179604912	63594461	7	1775										
HDAC11	79885	broad.mit.edu	37	chr3	13542247	13542247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	cactgctccagcgaccgtggCgggggcttctgtgcctatgc	14	14	1	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.chr3:13542247C>T	ENST00000295757.3	+	6	630	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.A107V|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G	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			Somatic	OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000495099.2_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000402259.1_Intron	p.A107V			WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	T	13542247	C	T	13542247	2	4	25	1	0	0	0	0	0	0	0	1	7006	755	27	2		2	HDAC11	3	13542247	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		13542247	184480183	8	1776										
DLEC1	9940	broad.mit.edu	37	chr3	38135139	38135139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gatctgatctatatttctggTgaaaaaagccagccagaccc	8	10	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.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_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			Somatic				DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G	p.G600G			WXS	Illumina GAIIx	Phase_I	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	28	93	---	---	---	---	C	38135139	T	C	38135139	2	2	25	1	0	0	0	0	0	0	0	1	4552	1683	59	2		2	DLEC1	3	38135139	Silent	SNP	T	TCGA-CH-5766-01A-11D-1576-08	24592892	38135139	159887291	9	1777										
PSMD6	9861	broad.mit.edu	37	chr3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	cagatctcctttcttgatagTttcttggtactgccagttct	7	10	4	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.chr3:63996409T>G	ENST00000295901.4	-	8	1245	c.1105A>C	c.(1105-1107)Act>Cct	p.T369P	PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000492933.1_Missense_Mutation_p.T422P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|RP11-245J9.5_ENST00000607115.1_lincRNA|PSMD6-AS2_ENST00000472046.1_RNA|RP11-245J9.4_ENST00000462717.1_RNA	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		Somatic				PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P|PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6-AS2_ENST00000472046.1_RNA	p.T422P	NM_001271779.1	NP_001258708.1	WXS	Illumina GAIIx	Phase_I	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	12	84	---	---	---	---	G	63996409	T	G	63996409	3	3	25	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	10	1778										
EPHB1	2047	broad.mit.edu	37	chr3	134911533	134911533	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	aagcagcgtcgggactttctGagtgaggcgagcatcatggg	16	8	2	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.chr3:134911533G>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			Somatic				EPHB1_ENST00000493838.1_Silent_p.L227L	p.L666L	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	C	134911533	G	C	134911533	2	2	25	1	0	0	0	0	0	0	0	1	5174	1277	45	4		4	EPHB1	3	134911533	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	70915124	134911533	63110897	11	1779										
OTUD4	54726	broad.mit.edu	37	chr4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ccataagtttgattatagaaCtgcttggatctaccacttct	6	9	2	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.chr4:146058804C>A	ENST00000447906.2	-	21	3310	c.3123G>T	c.(3121-3123)caG>caT	p.Q1041H	OTUD4_ENST00000454497.2_Missense_Mutation_p.Q976H|OTUD4_ENST00000455611.2_Intron			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		Somatic				OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	p.Q976H	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	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	47	384	---	---	---	---	A	146058804	C	A	146058804	3	1	25	1	0	0	0	0	1	0	0	0	11314	564	20	3	225	3	OTUD4	4	146058804	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		146058804	45095472	12	1780										
BDP1	55814	broad.mit.edu	37	chr5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ggatcctgccacggactctgCttccaagcccgcggagccca	11	17	1	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.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		Somatic				BDP1_ENST00000380675.2_5'UTR	p.A44D	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	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	5	48	---	---	---	---	A	70751835	C	A	70751835	3	1	25	1	0	0	0	0	1	0	0	0	1395	797	28	3	133	3	BDP1	5	70751835	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		70751835	110163425	13	1781										
HEXB	3074	broad.mit.edu	37	chr5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA													0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	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	GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000511181.1_In_Frame_Ins_p.251_252insK|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR	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)cag>cAGAag		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		Somatic				HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000261416.7_In_Frame_Ins_p.476_477insK|HEXB_ENST00000513539.1_3'UTR	p.251_252insK			WXS	Illumina GAIIx	Phase_I	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)	476						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	25	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	14	1782										
SYNE1	23345	broad.mit.edu	37	chr6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gctggtcctcatccagatggGaccacgtctagaaacacaac	9	13	2	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.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	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)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	p.S6692F	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	6	70	---	---	---	---	A	152558076	G	A	152558076	3	1	25	1	0	0	0	0	1	0	0	0	15442	1174	41	2	6543	2	SYNE1	6	152558076	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		152558076	18556991	15	1783										
ZAN	7455	broad.mit.edu	37	chr7	100348486	100348486	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tactggcagaacacctccgtCaccgtcccctcaggacacca	7	18	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_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_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)		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			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	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	7	41	---	---	---	---	A	100348486	C	A	100348486	1	1	25	0	1	0	0	0	0	0	0	0	17510	813	29	3		3	ZAN	7	100348486	RNA	SNP	C	TCGA-CH-5766-01A-11D-1576-08		100348486	58790177	16	1784										
ZFPM2	23414	broad.mit.edu	37	chr8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ctgccatgcagagaaccatgCgcacacgcaagcgcagaaag	11	13	0	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.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_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		Somatic				RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA	p.R734C	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	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	4	63	---	---	---	---	T	106814510	C	T	106814510	3	4	25	1	0	0	0	0	1	0	0	0	17655	768	27	2	2230	2	ZFPM2	8	106814510	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		106814510	39549512	17	1785										
CENPP	401541	broad.mit.edu	37	chr9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	aataatggagcccacagaatGctcagaattaagtgaatttg	9	6	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.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		Somatic					p.C147F	NM_001012267.1	NP_001012267.1	WXS	Illumina GAIIx	Phase_I	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	16	56	---	---	---	---	T	95108042	G	T	95108042	3	4	25	1	0	0	0	0	1	0	0	0	3240	1319	46	3	454	3	CENPP	9	95108042	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		95108042	46105389	18	1786										
MUS81	80198	broad.mit.edu	37	chr11	65630579	65630579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tggagctggcccagaagttgGccgagtcagaaggcctgagc	16	10	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.chr11:65630579G>T	ENST00000308110.4	+	7	998	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.A142S	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	217	Interaction with BLM.				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)		CCAGAAGTTGGCCGAGTCAGA	0.612								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(649-651)Gcc>Tcc	Homologous recombination	MUS81 structure-specific endonuclease subunit							50	52	51					11																	65630579		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630579G>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.649G>T	11.37:g.65630579G>T	ENSP00000307853:p.Ala217Ser		Somatic				MUS81_ENST00000533035.1_Missense_Mutation_p.A142S	p.A217S	NM_025128.4	NP_079404.3	WXS	Illumina GAIIx	Phase_I	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	998	+			217			Interaction with BLM.		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.649G>T	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.05|14.05	2.421091|2.421091	0.42918|0.42918	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374;ENST00000530111	T;T|.	0.14391|.	2.51;2.74|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.347323|.	0.32753|.	N|.	0.005683|.	T|T	0.56485|0.56485	0.1988|0.1988	L|L	0.60455|0.60455	1.87|1.87	0.25495|0.25495	N|N	0.98761|0.98761	B|.	0.33413|.	0.411|.	B|.	0.32393|.	0.145|.	T|T	0.50684|0.50684	-0.8799|-0.8799	10|5	0.12766|.	T|.	0.61|.	-7.7953|-7.7953	15.3232|15.3232	0.74139|0.74139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	217|.	Q96NY9|.	MUS81_HUMAN|.	S|V	142;217;217|141;112	ENSP00000432287:A142S;ENSP00000307853:A217S|.	ENSP00000307853:A217S|.	A|G	+|+	1|2	0|0	MUS81|MUS81	65387155|65387155	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.147000|0.147000	0.21601|0.21601	2.453000|2.453000	0.44970|0.44970	2.479000|2.479000	0.83701|0.83701	0.556000|0.556000	0.70494|0.70494	GCC|GGC		0.612	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		4	116	4	116	---	---	---	---	T	65630579	G	T	65630579	3	4	25	1	0	0	0	0	1	0	0	0	9988	1203	42	3	675	3	MUS81	11	65630579	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		65630579	69375937	19	1787										
TSPAN9	10867	broad.mit.edu	37	chr12	3390977	3390977	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gtggggatgtgcatcctcatCatgcaggtaagaggggcgtc	16	8	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.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000537971.1_Silent_p.I214I|TSPAN9_ENST00000407263.1_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			Somatic				TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	p.I214I	NM_006675.4	NP_006666.1	WXS	Illumina GAIIx	Phase_I	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	16	24	---	---	---	---	T	3390977	C	T	3390977	2	4	25	1	0	0	0	0	0	0	0	1	16651	816	29	2		2	TSPAN9	12	3390977	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		3390977	130460918	20	1788										
SIX1	6495	broad.mit.edu	37	chr14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	cctgggtggtggtgaggccgGtggcctcggccagctcccgc	18	14	0	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.chr14:61115426G>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		Somatic				SIX1_ENST00000554986.1_Intron	p.T161S	NM_005982.3	NP_005973.1	WXS	Illumina GAIIx	Phase_I	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	6	78	---	---	---	---	C	61115426	G	C	61115426	3	2	25	1	0	0	0	0	1	0	0	0	14346	1261	44	4	380	4	SIX1	14	61115426	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		61115426	46234114	21	1789										
SYNE2	23224	broad.mit.edu	37	chr14	64580250	64580250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ccggaaacattaaacgcagaCatgcagcaggtgctggaaca	11	10	0	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_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000554584.1_Silent_p.D4282D|SYNE2_ENST00000555002.1_Silent_p.D901D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.D4267D	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			Somatic				ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000344113.4_Silent_p.D4267D|SYNE2_ENST00000554584.1_Silent_p.D4282D	p.D652D			WXS	Illumina GAIIx	Phase_I	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	11	19	---	---	---	---	T	64580250	C	T	64580250	2	4	25	1	0	0	0	0	0	0	0	1	15443	477	17	2		2	SYNE2	14	64580250	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	3464824	64580250	42769290	22	1790										
CHSY1	22856	broad.mit.edu	37	chr15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	aaatctgcatgtcggctttaGggtacttaatgcggtaatct	10	7	2	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.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		Somatic				CHSY1_ENST00000543813.1_5'UTR	p.P595H	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	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	4	104	---	---	---	---	T	101718218	G	T	101718218	3	4	25	1	0	0	0	0	1	0	0	0	3412	1000	35	1	628	1	CHSY1	15	101718218	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		101718218	813174	23	1791										
MPP2	4355	broad.mit.edu	37	chr17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	gtaagggacaaactcggccgTtcgtagcaccttcaccgcct	10	14	1	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.chr17:41956753T>C	ENST00000461854.1	-	13	1529	c.1444A>G	c.(1444-1446)Acg>Gcg	p.T482A	MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000269095.4_Missense_Mutation_p.T458A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A			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		Somatic				MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A	p.T458A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	WXS	Illumina GAIIx	Phase_I	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	7	123	---	---	---	---	C	41956753	T	C	41956753	3	2	25	1	0	0	0	0	1	0	0	0	9734	1725	60	2	294	2	MPP2	17	41956753	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08		41956753	39238457	24	1792										
ANKRD12	23253	broad.mit.edu	37	chr18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ctgatgatgatgaaagttacAcaggtttgtttcagataatc	9	5	1	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.chr18:9221994A>G	ENST00000262126.4	+	8	1180	c.940A>G	c.(940-942)Aca>Gca	p.T314A	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	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																																						ENST00000262126.4																			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.(940-942)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		Somatic				ANKRD12_ENST00000383440.2_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	p.T314A	NM_015208.4	NP_056023.3	WXS	Illumina GAIIx	Phase_I	Q6UB98	ANR12_HUMAN			8	1180	+								O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.940A>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	10	113	---	---	---	---	G	9221994	A	G	9221994	3	3	25	1	0	0	0	0	1	0	0	0	640	159	6	2	966	2	ANKRD12	18	9221994	Missense_Mutation	SNP	A	TCGA-CH-5766-01A-11D-1576-08		9221994	68855254	25	1793										
MOCOS	55034	broad.mit.edu	37	chr18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	ggcacagtatctgctgatcaAcacatccagtattttggaac	8	10	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.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		Somatic				MOCOS_ENST00000588132.1_3'UTR	p.N743I	NM_017947.2	NP_060417.2	WXS	Illumina GAIIx	Phase_I	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	57	179	---	---	---	---	T	33836994	A	T	33836994	3	4	25	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	26	1794										
SPTBN4	57731	broad.mit.edu	37	chr19	41062020	41062020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	agccggcggcagtctcaggtGgaccgcctgtacgtggcgct	16	13	1	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.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			Somatic				SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000595535.1_Silent_p.V1705V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V	p.V1705V			WXS	Illumina GAIIx	Phase_I	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	6	53	---	---	---	---	A	41062020	G	A	41062020	2	1	25	1	0	0	0	0	0	0	0	1	15120	1335	47	2		2	SPTBN4	19	41062020	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08		41062020	18066963	27	1795										
DOPEY2	9980	broad.mit.edu	37	chr21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	acgtggaggaacgccatcatGcatacctgaagccttttcgc	10	12	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.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		Somatic					p.A359T	NM_005128.2	NP_005119.2	WXS	Illumina GAIIx	Phase_I	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	9	70	---	---	---	---	A	37586800	G	A	37586800	3	1	25	1	0	0	0	0	1	0	0	0	4708	1319	46	2	1105	2	DOPEY2	21	37586800	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		37586800	10543095	28	1796										
WNK3	65267	broad.mit.edu	37	chrX	54359994	54359994	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tactgtttttctcctttagtCtagcttctactgtcaaagtt	5	9	4	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.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		Somatic				WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K	p.R38K	NM_020922.4	NP_065973.2	WXS	Illumina GAIIx	Phase_I	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	8	125	---	---	---	---	T	54359994	C	T	54359994	3	4	25	1	0	0	0	0	1	0	0	0	17376	913	32	2	5381	2	WNK3	23	54359994	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		54359994	100910566	29	1797										
FRMD7	90167	broad.mit.edu	37	chrX	131219961	131219961	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	tacttacatgtgcttctgatGaaagtgcatgatcttgccct	8	9	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.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		Somatic				FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y	p.H162Y	NM_194277.2	NP_919253.1	WXS	Illumina GAIIx	Phase_I	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	73	88	---	---	---	---	A	131219961	G	A	131219961	3	1	25	1	0	0	0	0	1	0	0	0	6055	1290	45	2	1688	2	FRMD7	23	131219961	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	76859967	131219961	24050599	30	1798										
F8	2157	broad.mit.edu	37	chrX	154225299	154225299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.129032258064516	4	0.930579858446434	2.35632183908046	2.35632183908046	2.35632183908046	0.545454545454546	1	0	agcatgaagactgacaggatGggaagccatgttcttaagtg	13	6	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.chrX:154225299G>T	ENST00000360256.4	-	3	537	c.337C>A	c.(337-339)Cat>Aat	p.H113N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	113	F5/8 type A 1.|Plastocyanin-like 1.		H -> R (in HEMA; mild). {ECO:0000269|PubMed:7579394}.|H -> Y (in HEMA). {ECO:0000269|PubMed:10404764}.		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)	CTGACAGGATGGGAAGCCATG	0.443																																						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	GRCh37	CM990528	F8	M		c.(337-339)Cat>Aat		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						252	210	224					X																	154225299		2203	4300	6503	SO:0001583	missense	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:154225299G>T	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.337C>A	X.37:g.154225299G>T	ENSP00000353393:p.His113Asn		Somatic					p.H113N	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			3	537	-	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)		113		H -> R (in HEMA; mild).|H -> Y (in HEMA).	F5/8 type A 1.|Plastocyanin-like 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.337C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354272	0.61293	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99399	-5.83;-5.83;-5.83	5.03	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.348573	0.34291	N	0.004091	D	0.99036	0.9670	L	0.41710	1.295	0.28186	N	0.927965	P;D	0.71674	0.803;0.998	P;D	0.71656	0.58;0.974	D	0.96565	0.9418	10	0.66056	D	0.02	-20.0835	12.8452	0.57825	0.0:0.0:1.0:0.0	.	78;113	B1B0G8;P00451	.;FA8_HUMAN	N	113;78;107	ENSP00000353393:H113N;ENSP00000409446:H78N;ENSP00000389153:H107N	ENSP00000353393:H113N	H	-	1	0	F8	153878493	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.924000	0.63418	2.087000	0.62958	0.436000	0.28706	CAT		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	178	5	178	---	---	---	---	T	154225299	G	T	154225299	3	4	25	1	0	0	0	0	1	0	0	0	5350	1348	47	1	6842	1	F8	23	154225299	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	23005338	154225299	1045261	31	1799										
NOTCH2	4853	broad.mit.edu	37	chr1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	cactcattgacatcagtctcAcatttctgccctgtgaagcc	6	14	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.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*		Somatic				NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	p.C179*	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	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	9	81	---	---	---	---	T	120539834	A	T	120539834	4	4	26	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	1800										
OR2T6	254879	broad.mit.edu	37	chr1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggtgactgcatcctacaccaGgattctcatcacagtgcatc	8	13	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.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		Somatic					p.R220M	NM_001005471.1	NP_001005471.1	WXS	Illumina GAIIx	Phase_I	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	7	106	---	---	---	---	T	248551568	G	T	248551568	3	4	26	1	0	0	0	0	1	0	0	0	11029	1000	35	1	661	1	OR2T6	1	248551568	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	128011734	248551568	699053	2	1801										
BIRC6	57448	broad.mit.edu	37	chr2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gcgattcaatccaaacctttAtaatgatggcaaggtaaatt	7	7	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.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		Somatic					p.Y4660S	NM_016252.3	NP_057336	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	C	32824954	A	C	32824954	3	2	26	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	1802										
C2orf40	84417	broad.mit.edu	37	chr2	106690370	106690370	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ccaactaagactaaagtggcCgttgatgagaataaagccaa	9	8	0	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.chr2:106690370C>A	ENST00000238044.3	+	3	265	c.156C>A	c.(154-156)gcC>gcA	p.A52A	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Silent_p.A16A	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(46-48)gcC>gcA		chromosome 2 open reading frame 40							127	140	136					2																	106690370		2203	4300	6503	SO:0001819	synonymous_variant	84417					extracellular region|transport vesicle		g.chr2:106690370C>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.156C>A	2.37:g.106690370C>A			Somatic				C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR	p.A16A			WXS	Illumina GAIIx	Phase_I	Q9H1Z8	AUGN_HUMAN			4	279	+			52					D3DVK2	Silent	SNP	ENST00000238044.3	37	c.48C>A	CCDS2072.1																																																																																				0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		4	187	4	187	---	---	---	---	A	106690370	C	A	106690370	2	1	26	1	0	0	0	0	0	0	0	1	2165	639	23	1		1	C2orf40	2	106690370	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08	73865416	106690370	136509003	4	1803										
ZNF621	285268	broad.mit.edu	37	chr3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gtggtttctttggtcaggtgGtgagtcctggatcaaaaatg	14	5	3	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.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|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		Somatic				ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	p.G88D	NM_198484.3	NP_940886.1	WXS	Illumina GAIIx	Phase_I	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	13	81	---	---	---	---	A	40573524	G	A	40573524	3	1	26	1	0	0	0	0	1	0	0	0	18042	1261	44	2	277	2	ZNF621	3	40573524	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40573524	157448906	5	1804										
SEC61A1	29927	broad.mit.edu	37	chr3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gtatttctctcttcattgcaActaacatctgtgaaaccatc	4	11	4	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.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A|SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A	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		Somatic				SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	p.T185A	NM_013336.3	NP_037468.1	WXS	Illumina GAIIx	Phase_I	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	29	45	---	---	---	---	G	127779441	A	G	127779441	3	3	26	1	0	0	0	0	1	0	0	0	14000	43	2	2	579	2	SEC61A1	3	127779441	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	87205917	127779441	70242989	6	1805										
PCDHGA6	56109	broad.mit.edu	37	chr5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tcctctcgttttccactaatGgaggtctatgaccctgatgt	8	11	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.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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	56109							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		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.M155I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	WXS	Illumina GAIIx	Phase_I			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	3	49	---	---	---	---	A	140754115	G	A	140754115	3	1	26	1	0	0	0	0	1	0	0	0	11558	1348	47	2	467	2	PCDHGA6	5	140754115	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		140754115	40161145	7	1806										
MYLIP	29116	broad.mit.edu	37	chr6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ctggcgttgtggacctcgttTcaagaaacaaccagagccct	10	12	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.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		Somatic				MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P	p.S159P			WXS	Illumina GAIIx	Phase_I	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	10	123	---	---	---	---	C	16145318	T	C	16145318	3	2	26	1	0	0	0	0	1	0	0	0	10055	1783	62	2	1040	2	MYLIP	6	16145318	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		16145318	154969749	8	1807										
MOCS1	4337	broad.mit.edu	37	chr6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gctggattcctcctctggcaCcttctccagctctggccact	8	17	3	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.chr6:39880665C>A	ENST00000340692.5	-	7	844	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373186.4_Missense_Mutation_p.V281L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L			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		Somatic				MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L	p.V281L	NM_005943.5	NP_005934.2	WXS	Illumina GAIIx	Phase_I	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	136	185	---	---	---	---	A	39880665	C	A	39880665	3	1	26	1	0	0	0	0	1	0	0	0	9690	507	18	3	332	3	MOCS1	6	39880665	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	23735347	39880665	131234402	9	1808										
EIF4H	7458	broad.mit.edu	37	chr7	73604629	73604629	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tgggattcccgggatgacttCaattctggtatcagtattta	10	7	3	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.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR|MIR590_ENST00000385008.1_RNA	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			Somatic				EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Intron	p.F154F	NM_022170.1	NP_071496.1	WXS	Illumina GAIIx	Phase_I	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	14	26	---	---	---	---	T	73604629	C	T	73604629	2	4	26	1	0	0	0	0	0	0	0	1	5039	825	29	2		2	EIF4H	7	73604629	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08		73604629	85534034	10	1809										
NKX3-1	4824	broad.mit.edu	37	chr8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ccaactcgatcacctgagtgTgggagaaggcagctcgggag	15	10	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.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		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	p.H133P	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	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	90	33	---	---	---	---	G	23539041	T	G	23539041	3	3	26	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	11	1810										
MRPL15	29088	broad.mit.edu	37	chr8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gttttacagtttcagacgccAgtataagcctttgagtctca	8	9	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.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		Somatic					p.Q92P	NM_014175.3	NP_054894.1	WXS	Illumina GAIIx	Phase_I	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	55	39	---	---	---	---	C	55049839	A	C	55049839	3	2	26	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	12	1811										
TJP2	9414	broad.mit.edu	37	chr9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ctacagctcctcaaccaaaaGcagccccgagaacttttctt	5	15	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.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P	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		Somatic				TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	p.A490P	NM_004817.3	NP_004808.2	WXS	Illumina GAIIx	Phase_I	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	7	141	---	---	---	---	C	71844114	G	C	71844114	3	2	26	1	0	0	0	0	1	0	0	0	15927	971	34	4	1663	4	TJP2	9	71844114	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		71844114	69369317	13	1812										
SCAI	286205	broad.mit.edu	37	chr9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggaagctaaattcattggctCcctttccagagcttgtaaca	8	10	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.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																																						ENST00000336505.6																			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		Somatic				SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	p.E307Q	NM_001144877.2	NP_001138349.1	WXS	Illumina GAIIx	Phase_I	Q8N9R8	SCAI_HUMAN			10	977	-								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	20	56	---	---	---	---	G	127765792	C	G	127765792	3	3	26	1	0	0	0	0	1	0	0	0	13869	864	30	4	937	4	SCAI	9	127765792	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	55921678	127765792	13447639	14	1813										
ITIH2	3698	broad.mit.edu	37	chr10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	atccttcaccaacgcccgtgAtctccatgctggcacaagga	8	15	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		Somatic				ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	p.I678V	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	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	9	75	---	---	---	---	G	7780658	A	G	7780658	3	3	26	1	0	0	0	0	1	0	0	0	7904	333	12	2	2094	2	ITIH2	10	7780658	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		7780658	127754089	15	1814										
ARHGAP21	57584	broad.mit.edu	37	chr10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	atgttttcagacgatctagaGgatcttctttacgattggct	9	7	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.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	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		Somatic				ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	p.P1252R	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	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	4	25	---	---	---	---	C	24884077	G	C	24884077	3	2	26	1	0	0	0	0	1	0	0	0	871	1000	35	4	2149	4	ARHGAP21	10	24884077	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	17103419	24884077	110650670	16	1815										
TPH1	7166	broad.mit.edu	37	chr11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ccaacttcattctttaaggaAaaaatgagacttgctcttcc	5	10	3	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.chr11:18062244A>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		Somatic				TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	p.F22L	NM_004179.2	NP_004170.1	WXS	Illumina GAIIx	Phase_I	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	5	38	---	---	---	---	C	18062244	A	C	18062244	3	2	26	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	17	1816										
CD82	3732	broad.mit.edu	37	chr11	44626916	44626916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tgtccccagtactttgctttCctgctcctgatcctcattgc	6	15	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.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Intron|RP11-58K22.4_ENST00000532524.1_RNA|CD82_ENST00000530931.1_3'UTR	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			Somatic				CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron	p.F91F	NM_002231.3	NP_002222.1	WXS	Illumina GAIIx	Phase_I	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	27	32	---	---	---	---	T	44626916	C	T	44626916	2	4	26	1	0	0	0	0	0	0	0	1	3040	854	30	2		2	CD82	11	44626916	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08	26564672	44626916	90379600	18	1817										
PFDN5	5204	broad.mit.edu	37	chr12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggagctgaatctgccgcagcTagaaatgctcaagaaccagc	11	11	2	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.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_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_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		Somatic				PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P	p.L15P	NM_002624.3	NP_002615.2	WXS	Illumina GAIIx	Phase_I	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	3	93	---	---	---	---	C	53689395	T	C	53689395	3	2	26	1	0	0	0	0	1	0	0	0	11758	1522	53	2	46	2	PFDN5	12	53689395	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		53689395	80162500	19	1818										
LHFP	10186	broad.mit.edu	37	chr13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	gcaacccatgagggcagtgaGcgccaccaggaggaggaggc	17	11	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.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		Somatic					p.L101F	NM_005780.2	NP_005771.1	WXS	Illumina GAIIx	Phase_I	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	12	136	---	---	---	---	A	40175053	G	A	40175053	3	1	26	1	0	0	0	0	1	0	0	0	8763	971	34	2	313	2	LHFP	13	40175053	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40175053	74994825	20	1819										
BBS4	585	broad.mit.edu	37	chr15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	taacctaggagtttgctacaTatacctgaagcagttcaaca	7	9	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.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000542334.1_5'UTR	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		Somatic				BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000542334.1_5'UTR	p.I146K	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	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	18	46	---	---	---	---	A	73015166	T	A	73015166	3	1	26	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	21	1820										
NAT15	79903	broad.mit.edu	37	chr16	3529476	3529476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tgttctgtttctcaggtaccCagactcatggtatcgtgata	9	9	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.chr16:3529476C>A	ENST00000407558.4	+	4	419	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|NAA60_ENST00000360862.5_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	39	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CTCAGGTACCCAGACTCATGG	0.478																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(115-117)cCa>cAa		N(alpha)-acetyltransferase 60, NatF catalytic subunit							76	74	75					16																	3529476		1988	4178	6166	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3529476C>A		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"N(alpha)-acetyltransferase subunits"	25875	protein-coding gene	gene with protein product		614246	"N-acetyltransferase 15 (GCN5-related, putative)"	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.116C>A	16.37:g.3529476C>A	ENSP00000385903:p.Pro39Gln		Somatic				NAA60_ENST00000360862.5_5'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q	p.P39Q			WXS	Illumina GAIIx	Phase_I	Q9H7X0	NAT15_HUMAN			4	419	+			39			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.116C>A	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866743	0.91511	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000421765	T;T;T	0.54479	0.57;0.78;0.78	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	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	0.74731	-0.3566	10	0.54805	T	0.06	-7.1837	18.3696	0.90402	0.0:1.0:0.0:0.0	.	46;39	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	Q	46;39;39;39	ENSP00000401237:P46Q;ENSP00000385903:P39Q;ENSP00000393224:P39Q	ENSP00000385903:P39Q	P	+	2	0	NAA60	3469477	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.453000	0.80700	2.648000	0.89879	0.650000	0.86243	CCA		0.478	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		3	32	3	32	---	---	---	---	A	3529476	C	A	3529476	3	1	26	1	0	0	0	0	1	0	0	0	10176	594	21	1	122	1	NAT15	16	3529476	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		3529476	86825277	22	1821										
TAOK2	9344	broad.mit.edu	37	chr16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	aggcgcagcgggctggctttGgggcagaggcagaaaagctg	19	8	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.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	10	---	---	---	---	T	29996717	G	T	29996717	3	4	26	1	0	0	0	0	1	0	0	0	15545	1348	47	1	1656	1	TAOK2	16	29996717	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	26467241	29996717	60358036	23	1822										
BZRAP1	9256	broad.mit.edu	37	chr17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggggtcatagtcaaacagagCcacaaagatcctgacgggta	12	9	2	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.chr17:56385061C>A	ENST00000343736.4	-	24	5057	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1632S			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	64	---	---	---	---	A	56385061	C	A	56385061	3	1	26	1	0	0	0	0	1	0	0	0	1577	739	26	3	711	3	BZRAP1	17	56385061	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		56385061	24810149	24	1823										
SIRT7	51547	broad.mit.edu	37	chr17	79873382	79873382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggctcggcctcgctcaggtcGgcagcactgccaggcagaaa	14	14	1	1	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			Somatic					p.A138A	NM_016538.2	NP_057622.1	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	79873382	G	A	79873382	2	1	26	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	23488321	79873382	1321828	25	1824										
HNRNPL	3191	broad.mit.edu	37	chr19	39334540	39334540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tcctgatcattcttgaacacAttcaagcgtgtaggctgcaa	8	10	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.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Silent_p.N141N	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			Somatic				HNRNPL_ENST00000600873.1_Silent_p.N141N	p.N274N	NM_001533.2	NP_001524.2	WXS	Illumina GAIIx	Phase_I	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	31	60	---	---	---	---	G	39334540	A	G	39334540	2	3	26	1	0	0	0	0	0	0	0	1	7270	214	8	2		2	HNRNPL	19	39334540	Silent	SNP	A	TCGA-CH-5767-01A-11D-1786-08		39334540	19794443	26	1825										
PSG2	5670	broad.mit.edu	37	chr19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	cccatcacctcgctttatgaTgtgtaaggtgtaggatcctg	10	10	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.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		Somatic					p.I124V	NM_031246.3	NP_112536.2	WXS	Illumina GAIIx	Phase_I	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	16	160	---	---	---	---	C	43585093	T	C	43585093	3	2	26	1	0	0	0	0	1	0	0	0	12655	1464	51	2	653	2	PSG2	19	43585093	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08	4250553	43585093	15543890	27	1826										
CHD6	84181	broad.mit.edu	37	chr20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T													0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	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)aacfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	84181				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		Somatic				CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	p.N481fs	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	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	26	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	28	1827										
TSHZ2	128553	broad.mit.edu	37	chr20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	aacgaagcacacaattgcatGgataaaatgaccgctgtcta	8	9	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.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I	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		Somatic				TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I	p.M122I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	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	24	32	---	---	---	---	A	51870363	G	A	51870363	3	1	26	1	0	0	0	0	1	0	0	0	16621	1348	47	2	372	2	TSHZ2	20	51870363	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	11751708	51870363	11155157	29	1828										
CCT8L2	150160	broad.mit.edu	37	chr22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	tgtaaaccctctggcacttgCctggcctctggggagggagc	14	12	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.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		Somatic					p.G345D	NM_014406.4	NP_055221.1	WXS	Illumina GAIIx	Phase_I	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	4	137	---	---	---	---	T	17072407	C	T	17072407	3	4	26	1	0	0	0	0	1	0	0	0	2961	739	26	2	643	2	CCT8L2	22	17072407	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		17072407	34232159	30	1829										
SLC7A4	6545	broad.mit.edu	37	chr22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.514309764309764	0	0.685746352413019	1	1	0	ggacggaggcgtgtacagtgCccaccagctgtaggtggtct	16	10	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.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	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		Somatic				SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	p.G446D	NM_004173.2	NP_004164.2	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	T	21384286	C	T	21384286	3	4	26	1	0	0	0	0	1	0	0	0	14699	739	26	2	582	2	SLC7A4	22	21384286	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	4311879	21384286	29920280	31	1830										
MTOR	2475	broad.mit.edu	37	chr1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tggtagacttagaagccactGtcagtgggtagatgagggcc	15	7	1	4	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		Somatic				MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	p.T1977R	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	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	10	112	---	---	---	---	C	11188164	G	C	11188164	3	2	27	1	0	0	0	0	1	0	0	0	9954	1377	48	4	1783	4	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		11188164	238062457	1	1831										
RPE65	6121	broad.mit.edu	37	chr1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	atgttgtaggcaattgaaaaAttttttccaaagcaattacc	6	6	0	1	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		Somatic					p.N199K	NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	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	3	102	---	---	---	---	T	68906582	A	T	68906582	3	4	27	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	1832										
WDR77	79084	broad.mit.edu	37	chr1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ccagcccactgtggtaagcaGggagtgattgagcggggacc	16	10	0	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_ENST00000497278.1_5'UTR|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	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		Somatic				WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	p.L312V	NM_024102.2	NP_077007.1	WXS	Illumina GAIIx	Phase_I	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	13	130	---	---	---	---	C	111983947	G	C	111983947	3	2	27	1	0	0	0	0	1	0	0	0	17324	991	35	4	98	4	WDR77	1	111983947	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	43077365	111983947	137266674	3	1833										
OR10T2	128360	broad.mit.edu	37	chr1	158368837	158368837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gaaatcaactccaaccccagCcttttgtttatgatgagtgt	7	10	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.chr1:158368837C>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			Somatic					p.R140R	NM_001004475.1	NP_001004475.1	WXS	Illumina GAIIx	Phase_I	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	7	202	---	---	---	---	T	158368837	C	T	158368837	2	4	27	1	0	0	0	0	0	0	0	1	10919	738	26	2		2	OR10T2	1	158368837	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	46384890	158368837	90881784	4	1834										
SPTA1	6708	broad.mit.edu	37	chr1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tctccagcaagatctctatgCcagttaagtcttcggccagc	8	13	3	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.chr1:158615313C>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																																						ENST00000368147.4																			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		Somatic					p.G1323V	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			28	4148	-	all_hematologic(112;0.0378)							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	4	181	---	---	---	---	A	158615313	C	A	158615313	3	1	27	1	0	0	0	0	1	0	0	0	15115	739	26	3	3391	3	SPTA1	1	158615313	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	246476	158615313	90635308	5	1835										
C1orf116	79098	broad.mit.edu	37	chr1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	agtctactccttcaacagtcCcagcttcttcagggcctccc	6	17	4	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.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		Somatic				C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	p.G597R	NM_023938.5	NP_076427.2	WXS	Illumina GAIIx	Phase_I	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	4	106	---	---	---	---	T	207195320	C	T	207195320	3	4	27	1	0	0	0	0	1	0	0	0	1989	632	22	2	20	2	C1orf116	1	207195320	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	48580007	207195320	42055301	6	1836										
RYR2	6262	broad.mit.edu	37	chr1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tttgccgctcaccttctcgaCattgctatgggattcaagac	8	12	3	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.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E	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		Somatic				RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E	p.D4745E	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	27	77	---	---	---	---	A	237969520	C	A	237969520	3	1	27	1	0	0	0	0	1	0	0	0	13769	477	17	3	14629	3	RYR2	1	237969520	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	30774200	237969520	11281101	7	1837										
COL3A1	1281	broad.mit.edu	37	chr2	189874962	189874962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gatgctatcaaggtattctgTaatatggaaactggggaaac	11	5	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.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			Somatic				COL3A1_ENST00000317840.5_Silent_p.C991C	p.C1294C	NM_000090.3	NP_000081	WXS	Illumina GAIIx	Phase_I	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	45	132	---	---	---	---	C	189874962	T	C	189874962	2	2	27	1	0	0	0	0	0	0	0	1	3688	1644	57	2		2	COL3A1	2	189874962	Silent	SNP	T	TCGA-CH-5768-01A-11D-1576-08		189874962	53324411	8	1838										
SEL1L3	23231	broad.mit.edu	37	chr4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ttaaccagtactttgctgctTtggcgtaatttttcttgaat	7	7	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.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R	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		Somatic				SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R	p.K782R	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	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	58	110	---	---	---	---	C	25783976	T	C	25783976	3	2	27	1	0	0	0	0	1	0	0	0	14012	1841	64	2	1093	2	SEL1L3	4	25783976	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		25783976	165370300	9	1839										
PDZD2	23037	broad.mit.edu	37	chr5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gcagagacagggagctccagGtaaccacagtaaggctctgg	14	10	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.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		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D	p.G1356D			WXS	Illumina GAIIx	Phase_I	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	4	29	---	---	---	---	A	32087621	G	A	32087621	3	1	27	1	0	0	0	0	1	0	0	0	11701	1261	44	2	4141	2	PDZD2	5	32087621	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		32087621	148827639	10	1840										
SLC27A6	28965	broad.mit.edu	37	chr5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	caaattgctttgtgatgtttTtaagaagggagatgtttacc	10	4	0	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.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000395266.1_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		Somatic				SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y	p.F453Y			WXS	Illumina GAIIx	Phase_I	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	96	222	---	---	---	---	A	128362928	T	A	128362928	3	1	27	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	11	1841										
FBXW11	23291	broad.mit.edu	37	chr5	171299983	171299983	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	cgaacaaattcacaggtgctCgtgctccagacctgtataac	8	12	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.chr5:171299983C>A	ENST00000265094.5	-	9	1307	c.1170G>T	c.(1168-1170)acG>acT	p.T390T	FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000296933.6_Silent_p.T377T	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			Somatic				FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000265094.5_Silent_p.T390T	p.T377T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	WXS	Illumina GAIIx	Phase_I	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	3	73	---	---	---	---	A	171299983	C	A	171299983	2	1	27	1	0	0	0	0	0	0	0	1	5764	871	31	3		3	FBXW11	5	171299983	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	42937055	171299983	9615277	12	1842										
DPY19L1	23333	broad.mit.edu	37	chr7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ctaacaattgcaatgcatggTaaaccagctgaaagaaagaa	8	7	0	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		Somatic					p.Y453F	NM_015283.1	NP_056098.1	WXS	Illumina GAIIx	Phase_I	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	6	203	---	---	---	---	A	34981489	T	A	34981489	3	1	27	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	13	1843										
WBSCR17	64409	broad.mit.edu	37	chr7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	cccctaggtatggctctgtgGgggcagcatggaggtccttc	15	11	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.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		Somatic				WBSCR17_ENST00000498380.2_3'UTR	p.G365E	NM_022479.1	NP_071924.1	WXS	Illumina GAIIx	Phase_I	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	15	212	---	---	---	---	A	71130409	G	A	71130409	3	1	27	1	0	0	0	0	1	0	0	0	17261	1232	43	2	1120	2	WBSCR17	7	71130409	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	36148920	71130409	88008254	14	1844										
DGKI	9162	broad.mit.edu	37	chr7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tttcactgtctgccatatccAataactcggaaggtcctaaa	6	11	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.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																																						ENST00000453654.2																			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*		Somatic				DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000494390.1_5'UTR	p.L656*			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			31	2506	-								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	7	165	---	---	---	---	T	137082144	A	T	137082144	4	4	27	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	65951735	137082144	22056519	15	1845										
SULF1	23213	broad.mit.edu	37	chr8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gctcacagtccggcagagcaCgcggaacctctacgctcgcg	12	16	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_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000521946.1_3'UTR|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		Somatic				SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M	p.T489M	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	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	22	85	---	---	---	---	T	70533358	C	T	70533358	3	4	27	1	0	0	0	0	1	0	0	0	15369	536	19	2	1504	2	SULF1	8	70533358	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		70533358	75830664	16	1846										
NCOA4	8031	broad.mit.edu	37	chr10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gctagtgactccccaggaatCccataagctgcggaagcctg	11	13	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.chr10:51584833C>T	ENST00000443446.1	+	8	1161	c.932C>T	c.(931-933)tCc>tTc	p.S311F	NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000452682.1_Missense_Mutation_p.S327F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F	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		Somatic				NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F	p.S327F	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	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	43	82	---	---	---	---	T	51584833	C	T	51584833	3	4	27	1	0	0	0	0	1	0	0	0	10231	855	30	2	1010	2	NCOA4	10	51584833	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		51584833	83949914	17	1847										
SLIT1	6585	broad.mit.edu	37	chr10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ggcagctgagttgacatccaCgggcatccctggggtagggg	17	10	0	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	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M	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		Somatic				SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.V1292M	NM_003061.2	NP_003052.2	WXS	Illumina GAIIx	Phase_I	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	10	159	---	---	---	---	T	98762741	C	T	98762741	3	4	27	1	0	0	0	0	1	0	0	0	14739	536	19	2	742	2	SLIT1	10	98762741	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	47177908	98762741	36772006	18	1848										
ADAM12	8038	broad.mit.edu	37	chr10	127737879	127737879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	cctgggtccggcatgtcatcGcccaagtacacgtgggtccc	12	15	1	0	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			Somatic				ADAM12_ENST00000368676.4_Silent_p.G623G	p.G623G	NM_003474.4	NP_003465.3	WXS	Illumina GAIIx	Phase_I	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	139	266	---	---	---	---	A	127737879	G	A	127737879	2	1	27	1	0	0	0	0	0	0	0	1	236	1074	38	2		2	ADAM12	10	127737879	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	28975138	127737879	7796868	19	1849										
AHNAK	79026	broad.mit.edu	37	chr11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	catccggccctgcgatgttgAcatctacatccggagccttg	10	14	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.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		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V5062G	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	7	408	---	---	---	---	C	62286704	A	C	62286704	3	2	27	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		62286704	72719812	20	1850										
B3GAT3	26229	broad.mit.edu	37	chr11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	aggaagtaggcgagaaacacGttcttcagcttcagcttcat	10	9	4	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.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		Somatic				B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K	p.N7K			WXS	Illumina GAIIx	Phase_I	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	9	19	---	---	---	---	T	62389399	G	T	62389399	3	4	27	1	0	0	0	0	1	0	0	0	1255	1136	40	3	1006	3	B3GAT3	11	62389399	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	102695	62389399	72617117	21	1851										
MAP6	4135	broad.mit.edu	37	chr11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	cgcctcagccagtttattgtTcatctctttgctttgctcct	6	13	3	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.chr11:75316878T>G	ENST00000304771.3	-	3	2041	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000434603.2_Missense_Mutation_p.N431H	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		Somatic				MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000304771.3_Missense_Mutation_p.N431H	p.N431H	NM_207577.1	NP_997460.1	WXS	Illumina GAIIx	Phase_I	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	5	257	---	---	---	---	G	75316878	T	G	75316878	3	3	27	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	22	1852										
RPGRIP1	57096	broad.mit.edu	37	chr14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gagcaccaggttgtgagctaCtcaagaagaaaacatggcaa	11	8	1	3	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_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*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*	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*		Somatic				RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*	p.Y1002*			WXS	Illumina GAIIx	Phase_I	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	3	110	---	---	---	---	A	21796693	C	A	21796693	4	1	27	1	0	0	0	0	0	1	0	0	13549	576	20	3	3076	3	RPGRIP1	14	21796693	Nonsense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		21796693	85552847	23	1853										
ZFP36L1	677	broad.mit.edu	37	chr14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	attggtgccatcgggcagggTaggtgagcccaggaggtcat	17	8	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	5	179	---	---	---	---	C	69256543	T	C	69256543	3	2	27	1	0	0	0	0	1	0	0	0	17643	1638	57	2	296	2	ZFP36L1	14	69256543	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	47459850	69256543	38092997	24	1854										
AHNAK2	113146	broad.mit.edu	37	chr14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ctgtgtcttgaaagctacccCctgctgtggcactagaaagg	11	11	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.chr14:105406624C>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		Somatic				AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	p.G5055A	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	6	180	---	---	---	---	G	105406624	C	G	105406624	3	3	27	1	0	0	0	0	1	0	0	0	415	623	22	4	2227	4	AHNAK2	14	105406624	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	36150081	105406624	1942916	25	1855										
DET1	55070	broad.mit.edu	37	chr15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	aatgatatggagggaatagtCttctagaggggaccgtgggt	16	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.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_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	23	46	---	---	---	---	G	89074369	C	G	89074369	3	3	27	1	0	0	0	0	1	0	0	0	4450	913	32	4	1100	4	DET1	15	89074369	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		89074369	13457023	26	1856										
GRIN2A	2903	broad.mit.edu	37	chr16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tttagggagtgggtcctattCtctgctgttgcctcatccct	10	11	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.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000404927.2_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	2903				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		Somatic				GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D	p.E1040D	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	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	100	232	---	---	---	---	A	9858281	C	A	9858281	3	1	27	1	0	0	0	0	1	0	0	0	6779	912	32	3	1278	3	GRIN2A	16	9858281	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		9858281	80496472	27	1857										
ZNF276	92822	broad.mit.edu	37	chr16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	caccacctgggccaccgagcCcctctgtgaccacagagggc	11	18	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.chr16:89804607C>T	ENST00000443381.2	+	11	1895	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.P525S	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		Somatic				ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR	p.P525S	NM_152287.3	NP_689500.2	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	T	89804607	C	T	89804607	3	4	27	1	0	0	0	0	1	0	0	0	17808	623	22	2	1840	2	ZNF276	16	89804607	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	79946326	89804607	550146	28	1858										
NCOR1	9611	broad.mit.edu	37	chr17	15976858	15976858	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tgagctgttcttggactcctAgtcccttctcgggcattctt	9	12	3	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.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Silent_p.T1248T	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			Somatic				NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	p.T1232T	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	10	131	---	---	---	---	C	15976858	A	C	15976858	2	2	27	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	29	1859										
MYO15A	51168	broad.mit.edu	37	chr17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gggggctggcagatggctggCgcggctggaccgtggccatg	21	10	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.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		Somatic					p.R2262C	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	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	4	3	---	---	---	---	T	18052094	C	T	18052094	3	4	27	1	0	0	0	0	1	0	0	0	10063	768	27	2	6906	2	MYO15A	17	18052094	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	2075236	18052094	63143116	30	1860										
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	13	12	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.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		Somatic					p.A339V	NM_181534.3	NP_853512.1	WXS	Illumina GAIIx	Phase_I	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	7	349	---	---	---	---	A	38906791	G	A	38906791	3	1	27	1	0	0	0	0	1	0	0	0	8462	1087	38	2	348	2	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	20854697	38906791	42288419	31	1861										
RABAC1	10567	broad.mit.edu	37	chr19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	gctggtccacgaaggtgctcCagggccggatggtcgcgcgg	18	12	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.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		Somatic				RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR	p.W45L	NM_006423.2	NP_006414.2	WXS	Illumina GAIIx	Phase_I	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	2	3	---	---	---	---	A	42463023	C	A	42463023	3	1	27	1	0	0	0	0	1	0	0	0	12960	595	21	1	439	1	RABAC1	19	42463023	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		42463023	16665960	32	1862										
KLK3	354	broad.mit.edu	37	chr19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	ttcccacacccgctctacgaTatgagcctcctgaagaatcg	7	15	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.chr19:51361384T>G	ENST00000326003.2	+	3	347	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.D102E|KLK3_ENST00000597483.1_Intron|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		Somatic				KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E	p.D102E			WXS	Illumina GAIIx	Phase_I	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	27	33	---	---	---	---	G	51361384	T	G	51361384	3	3	27	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	33	1863										
SFI1	9814	broad.mit.edu	37	chr22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tcactgtgctccagatatacTtctgtgactggcagcaggcc	10	12	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.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_ENST00000432498.1_Missense_Mutation_p.F323L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L	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		Somatic				SFI1_ENST00000400288.2_Missense_Mutation_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	p.F323L	NM_014775.3	NP_055590.2	WXS	Illumina GAIIx	Phase_I	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	3	94	---	---	---	---	C	31971261	T	C	31971261	3	2	27	1	0	0	0	0	1	0	0	0	14156	1609	56	2	1001	2	SFI1	22	31971261	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		31971261	19333305	34	1864										
TXN2	25828	broad.mit.edu	37	chr22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tgttacagtcaggccaccagGactgcattgtggggtctgca	13	10	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.chr22:36876770G>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		Somatic				TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR	p.P39S			WXS	Illumina GAIIx	Phase_I	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	35	86	---	---	---	---	A	36876770	G	A	36876770	3	1	27	1	0	0	0	0	1	0	0	0	16788	1174	41	2	397	2	TXN2	22	36876770	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4905509	36876770	14427796	35	1865										
C22orf40	150383	broad.mit.edu	37	chr22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	tgcacaaactgcagcacgagCcgaggaccaggaatctgtcc	11	13	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.chr22:46643050C>T	ENST00000314567.3	-	3	605	c.182G>A	c.(181-183)gGc>gAc	p.G61D	CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_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		Somatic				CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron	p.G61D	NM_207327.4	NP_997210.3	WXS	Illumina GAIIx	Phase_I					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	3	24	---	---	---	---	T	46643050	C	T	46643050	3	4	27	1	0	0	0	0	1	0	0	0	2148	739	26	2	197	2	C22orf40	22	46643050	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	9766280	46643050	4661516	36	1866										
TEX11	56159	broad.mit.edu	37	chrX	69844762	69844762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	caaagctttttctgccacaaTttgttgtccattctaaaaag	5	9	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.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	56159						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		Somatic				TEX11_ENST00000374320.2_Missense_Mutation_p.I231V|TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V	p.I556V	NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	C	69844762	T	C	69844762	3	2	27	1	0	0	0	0	1	0	0	0	15771	1493	52	2	1204	2	TEX11	23	69844762	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		69844762	85425798	37	1867										
SMARCA1	6594	broad.mit.edu	37	chrX	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.481176470588235	2.045	0	1	1	0	aactgatgaaatggagccttGtatcttgcaatctgtgtatt	9	6	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.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*		Somatic				SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	p.Y943*	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	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	69	20	---	---	---	---	T	128599698	G	T	128599698	4	4	27	1	0	0	0	0	0	1	0	0	14768	1372	48	3	343	3	SMARCA1	23	128599698	Nonsense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	58754936	128599698	26670862	38	1868										
CAMTA1	23261	broad.mit.edu	37	chr1	7723412	7723412	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgtgttccgatctccgcaGgagctggcggcagcgtgcat	15	11	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.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			Somatic				CAMTA1_ENST00000439411.2_Splice_Site		NM_015215.2	NP_056030.1	WXS	Illumina GAIIx	Phase_I	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	52	246	---	---	---	---	T	7723412	G	T	7723412	5	4	28	1	0	0	0	0	0	0	1	0	2613	1014	35	1	839	1	CAMTA1	1	7723412	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7723412	241527209	1	1869										
PRDM2	7799	broad.mit.edu	37	chr1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatcatgaattcagagaagGcttcccaagacacaataaat	7	8	2	4	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_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_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		Somatic				PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T	p.A463T	NM_012231.4	NP_036363.2	WXS	Illumina GAIIx	Phase_I	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	7	70	---	---	---	---	A	14105677	G	A	14105677	3	1	28	1	0	0	0	0	1	0	0	0	12458	1203	42	2	1413	2	PRDM2	1	14105677	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6382265	14105677	235144944	2	1870										
GBP3	2635	broad.mit.edu	37	chr1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttggtccatagcctgctGgttgatggttcccatgctat	11	10	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.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*		Somatic					p.Q136*	NM_018284.2	NP_060754.2	WXS	Illumina GAIIx	Phase_I	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	24	158	---	---	---	---	A	89480252	G	A	89480252	4	1	28	1	0	0	0	0	0	1	0	0	6275	1357	47	2	1413	2	GBP3	1	89480252	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	75374575	89480252	159770369	3	1871										
SV2A	9900	broad.mit.edu	37	chr1	149885321	149885321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaccttcttggccgcatgCtttttgacttccttagcaat	6	13	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.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	9900				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			Somatic				SV2A_ENST00000369145.1_Silent_p.K24K	p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	WXS	Illumina GAIIx	Phase_I	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	36	133	---	---	---	---	T	149885321	C	T	149885321	2	4	28	1	0	0	0	0	0	0	0	1	15414	796	28	2		2	SV2A	1	149885321	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	60405069	149885321	99365300	4	1872										
LAMC1	3915	broad.mit.edu	37	chr1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaccagcaccaaggcagaAgctgaaagaacttttgcaga	10	11	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.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		Somatic					p.E1446D	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	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	8	66	---	---	---	---	C	183106827	A	C	183106827	3	2	28	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	33221506	183106827	66143794	5	1873										
IVNS1ABP	10625	broad.mit.edu	37	chr1	185269161	185269161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggggcacagcttgtccacaActttgttacaggatcaaata	9	9	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.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			Somatic				IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR	p.L491L	NM_006469.4	NP_006460.2	WXS	Illumina GAIIx	Phase_I	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	10	58	---	---	---	---	G	185269161	A	G	185269161	2	3	28	1	0	0	0	0	0	0	0	1	7930	40	2	2		2	IVNS1ABP	1	185269161	Silent	SNP	A	TCGA-CH-5769-01A-11D-1576-08	2162334	185269161	63981460	6	1874										
WNT9A	7483	broad.mit.edu	37	chr1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acggttctccaggtcgggtgCctcatcgcaggtacagcgct	13	13	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.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		Somatic					p.A154T	NM_003395.2	NP_003386.1	WXS	Illumina GAIIx	Phase_I	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	30	178	---	---	---	---	T	228111994	C	T	228111994	3	4	28	1	0	0	0	0	1	0	0	0	17395	739	26	2	645	2	WNT9A	1	228111994	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	42842833	228111994	21138627	7	1875										
OBSCN	84033	broad.mit.edu	37	chr1	228456388	228456388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttccagctcgaaagtgcgCgtggaggccgtgggctgcac	16	11	0	0	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_ENST00000359599.6_Silent_p.R329R|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.R1857R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R	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			Somatic				OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000422127.1_Silent_p.R1673R	p.R1857R	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	16	154	---	---	---	---	T	228456388	C	T	228456388	2	4	28	1	0	0	0	0	0	0	0	1	10812	755	27	2		2	OBSCN	1	228456388	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	344394	228456388	20794233	8	1876										
DISC1	27185	broad.mit.edu	37	chr1	231830155	231830155	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctttattcggctctcgctTggctctgccggggaacgtgg	14	11	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.chr1:231830155T>C	ENST00000602281.1	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000439617.2_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.L217L	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			Somatic				DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L	p.L217L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina GAIIx	Phase_I	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	10	87	---	---	---	---	C	231830155	T	C	231830155	2	2	28	1	0	0	0	0	0	0	0	1	4538	1799	63	2		2	DISC1	1	231830155	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3373767	231830155	17420466	9	1877										
OR2M7	391196	broad.mit.edu	37	chr1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)attfs		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		Somatic					p.I101fs	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	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	28	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	10	1878										
MYT1L	23040	broad.mit.edu	37	chr2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	attgtccctcctcccagcttCcatggccatcttctccctca	4	19	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.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		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	p.E455K	NM_015025.2	NP_055840.2	WXS	Illumina GAIIx	Phase_I	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	32	207	---	---	---	---	T	1926178	C	T	1926178	3	4	28	1	0	0	0	0	1	0	0	0	10107	864	30	2	2255	2	MYT1L	2	1926178	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1926178	241273195	11	1879										
THADA	63892	broad.mit.edu	37	chr2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	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	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	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)ttgfs		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		Somatic				THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs	p.L1921fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	WXS	Illumina GAIIx	Phase_I	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	28	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	41532009	43458187	199741186	12	1880										
BCL11A	53335	broad.mit.edu	37	chr2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgctgcatggagctgagcaCcatgccctgcatgacgtcgg	14	12	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.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|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		Somatic				BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M	p.V551M	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	T	60688396	C	T	60688396	3	4	28	1	0	0	0	0	1	0	0	0	1363	507	18	2	966	2	BCL11A	2	60688396	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	17230209	60688396	182510977	13	1881										
ARHGAP15	55843	broad.mit.edu	37	chr2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)tttfs		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		Somatic					p.F359fs	NM_018460.3	NP_060930.3	WXS	Illumina GAIIx	Phase_I	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	28	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	83693374	144381770	98817603	14	1882										
UBR3	130507	broad.mit.edu	37	chr2	170938348	170938348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtccacattacaatgggCtgtgactctccacctcagca	10	13	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			Somatic				UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L	p.L1888L			WXS	Illumina GAIIx	Phase_I	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	8	113	---	---	---	---	T	170938348	C	T	170938348	2	4	28	1	0	0	0	0	0	0	0	1	16900	796	28	2		2	UBR3	2	170938348	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	26556578	170938348	72261025	15	1883										
TLK1	9874	broad.mit.edu	37	chr2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttttctttcttctcatctCtccagcttttattaagctga	4	10	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.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_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|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		Somatic				TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I	p.R446I	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	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	6	60	---	---	---	---	A	171863509	C	A	171863509	3	1	28	1	0	0	0	0	1	0	0	0	15940	913	32	3	847	3	TLK1	2	171863509	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	925161	171863509	71335864	16	1884										
ALS2CL	259173	broad.mit.edu	37	chr3	46724745	46724745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagggctccaggccagccccCagcacggggaagtccttctt	13	15	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.chr3:46724745C>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			Somatic				ALS2CL_ENST00000415953.1_Silent_p.L328L	p.L328L	NM_147129.3	NP_667340.2	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	A	46724745	C	A	46724745	2	1	28	1	0	0	0	0	0	0	0	1	551	581	21	1		1	ALS2CL	3	46724745	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		46724745	151297685	17	1885										
APPL1	26060	broad.mit.edu	37	chr3	57303570	57303570	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttgtcttttccactaggActtggaagaacaaagtcggt	9	7	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.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_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.(1984-1986)gAc>gTc		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			Somatic				ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	p.D662V	NM_012096.2	NP_036228.1	WXS	Illumina GAIIx	Phase_I	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.1985A>T	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	7	102	---	---	---	---	T	57303570	A	T	57303570	5	4	28	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	10578825	57303570	140718860	18	1886										
PLD1	5337	broad.mit.edu	37	chr3	171427351	171427351	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagagaaataataacttaccAtttagctaaagcattctctt	4	7	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.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_ENST00000340989.4_Splice_Site_p.W354R|PLD1_ENST00000342215.6_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.(1060-1062)Tgg>Cgg		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			Somatic				PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000351298.4_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R	p.W354R	NM_001130081.2	NP_001123553.1	WXS	Illumina GAIIx	Phase_I	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.1060T>C	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	10	106	---	---	---	---	G	171427351	A	G	171427351	5	3	28	1	0	0	0	0	0	0	1	0	12045	231	8	2	2236	2	PLD1	3	171427351	Splice_Site	SNP	A	TCGA-CH-5769-01A-11D-1576-08	114123781	171427351	26595079	19	1887										
ST6GAL1	6480	broad.mit.edu	37	chr3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgatagtgcctgcacgatgGgtgcctaccacccgctgctc	11	15	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.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		Somatic				ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C	p.G367C	NM_173216.2	NP_775323.1	WXS	Illumina GAIIx	Phase_I	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	5	65	---	---	---	---	T	186793469	G	T	186793469	3	4	28	1	0	0	0	0	1	0	0	0	15220	1232	43	1	1117	1	ST6GAL1	3	186793469	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	15366118	186793469	11228961	20	1888										
BOD1L	259282	broad.mit.edu	37	chr4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttcttttatgcttaagttTgacagtttcagcatattttt	6	6	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.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		Somatic					p.K1456E	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	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	11	62	---	---	---	---	C	13604158	T	C	13604158	3	2	28	1	0	0	0	0	1	0	0	0	1483	1821	63	2	4857	2	BOD1L	4	13604158	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08		13604158	177550118	21	1889										
ENAM	10117	broad.mit.edu	37	chr4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG													0	0	1	0	0	0	1	1	0	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.(2521-2526)ccagagfs		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		Somatic				ENAM_ENST00000472903.1_Intron	p.PE841fs	NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	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	28	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	57905507	71509665	119644611	22	1890										
LRIT3	345193	broad.mit.edu	37	chr4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttatcttaccattgatttGtttcttgttgtacaaagttt	6	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.chr4:110791704G>C	ENST00000594814.1	+	4	1799	c.1799G>C	c.(1798-1800)tGt>tCt	p.C600S	LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S|LRIT3_ENST00000327908.3_Missense_Mutation_p.C417S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S	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		Somatic				LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S	p.C417S			WXS	Illumina GAIIx	Phase_I	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	7	101	---	---	---	---	C	110791704	G	C	110791704	3	2	28	1	0	0	0	0	1	0	0	0	8949	1377	48	4	1674	4	LRIT3	4	110791704	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	39282039	110791704	80362572	23	1891										
DIMT1L	27292	broad.mit.edu	37	chr5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)aacfs		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		Somatic				DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	p.N254fs	NM_014473.2	NP_055288.1	WXS	Illumina GAIIx	Phase_I	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	28	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		61688029	119227231	24	1892										
PCDHA2	56146	broad.mit.edu	37	chr5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctggacgagaacgacaacGcgccggcactgttggcgcct	14	13	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.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	56146							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		Somatic				PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A562T	NM_018905.2	NP_061728.1	WXS	Illumina GAIIx	Phase_I			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	13	216	---	---	---	---	A	140176233	G	A	140176233	3	1	28	1	0	0	0	0	1	0	0	0	11524	1087	38	2	1686	2	PCDHA2	5	140176233	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	78488204	140176233	40739027	25	1893										
PCDHA13	56136	broad.mit.edu	37	chr5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacttgatcattgccatctGcgcggtgtccagcctgttgg	11	11	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.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_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	56136							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		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.C705Y	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			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	12	204	---	---	---	---	A	140263967	G	A	140263967	3	1	28	1	0	0	0	0	1	0	0	0	11523	1319	46	2	2116	2	PCDHA13	5	140263967	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	87734	140263967	40651293	26	1894										
FILIP1	27145	broad.mit.edu	37	chr6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaatctcagctggtgctgCtgatgtagacaccgtcatta	10	10	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.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		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T|FILIP1_ENST00000498523.1_5'UTR	p.A1016T			WXS	Illumina GAIIx	Phase_I	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	27	187	---	---	---	---	T	76022502	C	T	76022502	3	4	28	1	0	0	0	0	1	0	0	0	5894	797	28	2	603	2	FILIP1	6	76022502	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		76022502	95092565	27	1895										
ASB4	51666	broad.mit.edu	37	chr7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actttaaatctcccctccacAaggcagcctggaactgtgac	7	14	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	6	99	---	---	---	---	G	95157409	A	G	95157409	3	3	28	1	0	0	0	0	1	0	0	0	1025	131	5	2	782	2	ASB4	7	95157409	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08		95157409	63981254	28	1896										
OR2A25	392138	broad.mit.edu	37	chr7	143771567	143771567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagatgctggtgaacctcctGcatccagccaagcccatctc	8	16	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.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			Somatic					p.L85L	NM_001004488.1	NP_001004488.1	WXS	Illumina GAIIx	Phase_I	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	7	122	---	---	---	---	A	143771567	G	A	143771567	2	1	28	1	0	0	0	0	0	0	0	1	10978	1306	46	2		2	OR2A25	7	143771567	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	48614158	143771567	15367096	29	1897										
DLGAP2	9228	broad.mit.edu	37	chr8	1616604	1616604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaccgaatccacccaggaCgcctaccaggacagccgcgc	10	18	0	0	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			Somatic					p.D560D	NM_004745.3	NP_004736.2	WXS	Illumina GAIIx	Phase_I	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	4	20	---	---	---	---	T	1616604	C	T	1616604	2	4	28	1	0	0	0	0	0	0	0	1	4560	535	19	2		2	DLGAP2	8	1616604	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1616604	144747418	30	1898										
PPP1R3B	79660	broad.mit.edu	37	chr8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatgatcctatagttcttgCctctgttgctgtcccagtac	9	11	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.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	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		Somatic				PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	WXS	Illumina GAIIx	Phase_I	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	19	128	---	---	---	---	T	8998482	C	T	8998482	3	4	28	1	0	0	0	0	1	0	0	0	12372	739	26	2	181	2	PPP1R3B	8	8998482	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	7381878	8998482	137365540	31	1899										
PXDNL	137902	broad.mit.edu	37	chr8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggattgattaatgtgtggCcaaatctaaaggctgcagta	11	5	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.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		Somatic				PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	p.G1056D	NM_144651.4	NP_653252	WXS	Illumina GAIIx	Phase_I	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	4	40	---	---	---	---	T	52321017	C	T	52321017	3	4	28	1	0	0	0	0	1	0	0	0	12848	739	26	2	1252	2	PXDNL	8	52321017	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	43322535	52321017	94043005	32	1900										
VPS13B	157680	broad.mit.edu	37	chr8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	agtaagaagttggtaccatgGacaaaccagcatgccgggaa	12	8	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.chr8:100454735G>A	ENST00000358544.2	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000395996.1_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		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E	p.G1106E			WXS	Illumina GAIIx	Phase_I	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	6	107	---	---	---	---	A	100454735	G	A	100454735	3	1	28	1	0	0	0	0	1	0	0	0	17187	1174	41	2	3526	2	VPS13B	8	100454735	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	48133718	100454735	45909287	33	1901										
FAM91A1	157769	broad.mit.edu	37	chr8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctacaggacacacgaagCgcatcgcattcctgtttgac	9	12	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.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		Somatic				FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	p.R377C	NM_144963.2	NP_659400	WXS	Illumina GAIIx	Phase_I	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	12	85	---	---	---	---	T	124799551	C	T	124799551	3	4	28	1	0	0	0	0	1	0	0	0	5651	768	27	2	1179	2	FAM91A1	8	124799551	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	24344816	124799551	21564471	34	1902										
ALG2	85365	broad.mit.edu	37	chr9	101980873	101980873	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	acatttagagatggatagagGacatcagggtctatgtgaga	13	4	2	3	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			Somatic				ALG2_ENST00000319033.6_Silent_p.V105V	p.V198V	NM_033087.3	NP_149078.1	WXS	Illumina GAIIx	Phase_I	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	13	118	---	---	---	---	A	101980873	G	A	101980873	2	1	28	1	0	0	0	0	0	0	0	1	519	1161	41	2		2	ALG2	9	101980873	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08		101980873	39232558	35	1903										
ZNF462	58499	broad.mit.edu	37	chr9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcagttgtgggagtgcttgTccactaccagaaaagacacc	11	10	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.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A			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		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A	p.V1131A			WXS	Illumina GAIIx	Phase_I	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	16	238	---	---	---	---	C	109689585	T	C	109689585	3	2	28	1	0	0	0	0	1	0	0	0	17923	1667	58	2	3398	2	ZNF462	9	109689585	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	7708712	109689585	31523846	36	1904										
NUP188	23511	broad.mit.edu	37	chr9	131768055	131768055	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctcaacatgcttggagaGgtaagttggttctgtcagac	12	9	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.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.(4867-4869)gaG>gaT		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			Somatic					p.E1623D	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	Q5SRE5	NU188_HUMAN			41	4890	+			1623					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.4869G>T	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	18	296	---	---	---	---	T	131768055	G	T	131768055	5	4	28	1	0	0	0	0	0	0	1	0	10758	1014	35	1	5031	1	NUP188	9	131768055	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08	22078470	131768055	9445376	37	1905										
ERCC6	2074	broad.mit.edu	37	chr10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-													0	0	1	0	0	0	1	1	0	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	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs	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)gtgtacfs	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		Somatic				ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA	p.Y960fs	NM_000124.2	NP_000115.1	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			16	2955_2956	-			960			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	28	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		50680468	84854279	38	1906										
TCF7L2	6934	broad.mit.edu	37	chr10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs			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)gacfs		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		Somatic				TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000355717.4_3'UTR	p.D541fs			WXS	Illumina GAIIx	Phase_I	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	28	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	64245026	114925494	20609253	39	1907										
TRIM5	85363	broad.mit.edu	37	chr11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_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)aatfs		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		Somatic				TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR	p.N390fs			WXS	Illumina GAIIx	Phase_I	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	28	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		5686351	129320165	40	1908										
MFAP5	8076	broad.mit.edu	37	chr12	8804283	8804283	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggtatttttttcactgagGgaggctgaaaggcagaaatt	13	4	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.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000538107.1_5'Flank	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			Somatic				MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron	p.S74S	NM_003480.2	NP_003471.1	WXS	Illumina GAIIx	Phase_I	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	8	167	---	---	---	---	T	8804283	G	T	8804283	2	4	28	1	0	0	0	0	0	0	0	1	9518	1219	43	1		1	MFAP5	12	8804283	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08		8804283	125047612	41	1909										
TRPV4	59341	broad.mit.edu	37	chr12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgatgtaggtcaccagcaGgatgatgaagaccacggggt	15	7	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.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M	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		Somatic				TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M	p.L698M	NM_001177431.1	NP_001170902.1	WXS	Illumina GAIIx	Phase_I	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	18	184	---	---	---	---	T	110226321	G	T	110226321	3	4	28	1	0	0	0	0	1	0	0	0	16595	991	35	1	539	1	TRPV4	12	110226321	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	101422038	110226321	23625574	42	1910										
LIG4	3981	broad.mit.edu	37	chr13	108861451	108861451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattctaaaagccatgcaggCttgacaacatcatgtttatt	6	9	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.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000405925.1_Silent_p.K722K|LIG4_ENST00000442234.1_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	124	---	---	---	---	T	108861451	C	T	108861451	2	4	28	1	0	0	0	0	0	0	0	1	8783	796	28	2		2	LIG4	13	108861451	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		108861451	6308427	43	1911										
COL4A2	1284	broad.mit.edu	37	chr13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggaaagctgggccccaaGgaagaggtggtgtgtctgct	17	8	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.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*		Somatic				COL4A2-AS1_ENST00000417970.2_RNA	p.G1441*	NM_001846.2	NP_001837.2	WXS	Illumina GAIIx	Phase_I	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	12	122	---	---	---	---	T	111156530	G	T	111156530	4	4	28	1	0	0	0	0	0	1	0	0	3690	1001	35	1	4495	1	COL4A2	13	111156530	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2295079	111156530	4013348	44	1912										
KCNH5	27133	broad.mit.edu	37	chr14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attccgcagctccttctgctGcttgaacttctggaagagct	9	12	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.chr14:63175050G>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*		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.Q715*	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	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	14	208	---	---	---	---	A	63175050	G	A	63175050	4	1	28	1	0	0	0	0	0	1	0	0	8035	1328	46	2	827	2	KCNH5	14	63175050	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		63175050	44174490	45	1913										
C14orf159	80017	broad.mit.edu	37	chr14	91647609	91647609	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaaaggctccacctggttgTctcaccccagagagaattcc	9	14	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.chr14:91647609T>C	ENST00000523771.1	+	8	1398	c.795T>C	c.(793-795)tgT>tgC	p.C265C	C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000518868.1_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000523816.1_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			Somatic				C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C	p.C270C			WXS	Illumina GAIIx	Phase_I	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	5	63	---	---	---	---	C	91647609	T	C	91647609	2	2	28	1	0	0	0	0	0	0	0	1	1755	1673	58	2		2	C14orf159	14	91647609	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	28472559	91647609	15701931	46	1914										
SERPINA10	51156	broad.mit.edu	37	chr14	94756667	94756667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtgcctcatggagatcttTcgcagcaggctgaatccgaa	11	11	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.chr14:94756667T>C	ENST00000393096.1	-	2	729	c.264A>G	c.(262-264)cgA>cgG	p.R88R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000554723.1_Silent_p.R128R|SERPINA10_ENST00000261994.4_Silent_p.R88R	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			Somatic				SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R|SERPINA10_ENST00000554173.1_Silent_p.R88R	p.R128R			WXS	Illumina GAIIx	Phase_I	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	14	60	---	---	---	---	C	94756667	T	C	94756667	2	2	28	1	0	0	0	0	0	0	0	1	14087	1770	62	2		2	SERPINA10	14	94756667	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3109058	94756667	12592873	47	1915										
SNRPN	6638	broad.mit.edu	37	chr15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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	SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNURF_ENST00000338094.6_3'UTR|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400098.1_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)cccfs		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		Somatic				SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs	p.P229fs			WXS	Illumina GAIIx	Phase_I	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	28	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	48	1916										
DNAH9	1770	broad.mit.edu	37	chr17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actggaccagatggccctgcAatgtgacatgacgaagaaga	12	9	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.chr17:11865470A>C	ENST00000262442.4	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P	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																																						ENST00000262442.4																			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		Somatic				DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	p.Q4377P	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)						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	9	106	---	---	---	---	C	11865470	A	C	11865470	3	2	28	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		11865470	69329740	49	1917										
MYO1D	4642	broad.mit.edu	37	chr17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctcattgcagtaattgaTacagaattgttcaaaactac	5	7	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.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_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		Somatic				MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V	p.I400V	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	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	7	150	---	---	---	---	C	31087406	T	C	31087406	3	2	28	1	0	0	0	0	1	0	0	0	10071	1406	49	2	1874	2	MYO1D	17	31087406	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	19221936	31087406	50107804	50	1918										
TUBG2	27175	broad.mit.edu	37	chr17	40811928	40811928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcgtggaggaattcgccacCgagggcactgaccgcaagga	14	11	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.chr17:40811928C>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			Somatic					p.T42T	NM_016437.2	NP_057521.1	WXS	Illumina GAIIx	Phase_I	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	11	170	---	---	---	---	T	40811928	C	T	40811928	2	4	28	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	9724522	40811928	40383282	51	1919										
LAMA1	284217	broad.mit.edu	37	chr18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggtcccctgtcactccctGctgggagcttccctctgtgg	12	15	2	0	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		Somatic					p.A1387V	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	A	7007238	G	A	7007238	3	1	28	1	0	0	0	0	1	0	0	0	8605	1319	46	2	5207	2	LAMA1	18	7007238	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7007238	71070010	52	1920										
KLHL14	57565	broad.mit.edu	37	chr18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacggctgctgctgcggcGgctgctgctggtccttgggg	19	11	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		Somatic				KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	p.P87Q	NM_020805.1	NP_065856.1	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	T	30350295	G	T	30350295	3	4	28	1	0	0	0	0	1	0	0	0	8370	1116	39	1	1658	1	KLHL14	18	30350295	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	23343057	30350295	47726953	53	1921										
KCNG2	26251	broad.mit.edu	37	chr18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgcagcccgtgcgccttcCgcgccatcgtggcgcttttg	12	17	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.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		Somatic					p.R79C	NM_012283.1	NP_036415.1	WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	T	77623902	C	T	77623902	3	4	28	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	54	1922										
ADNP2	22850	broad.mit.edu	37	chr18	77896569	77896569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgatgtggcttcatttttTggaaaaagaaggtatatttg	10	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.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			Somatic					p.F1091F	NM_014913.3	NP_055728.1	WXS	Illumina GAIIx	Phase_I	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	9	98	---	---	---	---	C	77896569	T	C	77896569	2	2	28	1	0	0	0	0	0	0	0	1	324	1809	63	2		2	ADNP2	18	77896569	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	272667	77896569	180679	55	1923										
ZNF557	79230	broad.mit.edu	37	chr19	7075115	7075115	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcgtcctgcccccaactgcCggtgagtcatggggtcctgg	14	14	1	1	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_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000414706.1_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.(28-30)gcC>gcT		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			Somatic				ZNF557_ENST00000252840.6_Splice_Site_p.A10A|ZNF557_ENST00000439035.2_Splice_Site_p.A10A	p.A10A	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	WXS	Illumina GAIIx	Phase_I	Q8N988	ZN557_HUMAN		Lung(535;0.179)	3	503	+			10					Q6PEJ3|Q9BTZ1	Splice_Site	SNP	ENST00000439035.2	37	c.30C>T	CCDS45945.1																																																																																				0.642	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Silent	9	126	9	126	---	---	---	---	T	7075115	C	T	7075115	5	4	28	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		7075115	52053868	56	1924										
MUC16	94025	broad.mit.edu	37	chr19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtatgtccagcccggggcCcacagggtcagggtggtagg	17	11	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.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	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		Somatic				MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	p.G14154C	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	10	58	---	---	---	---	A	8976368	C	A	8976368	3	1	28	1	0	0	0	0	1	0	0	0	9973	623	22	1	1103	1	MUC16	19	8976368	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1901253	8976368	50152615	57	1925										
RAB3A	5864	broad.mit.edu	37	chr19	18313413	18313413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgacgaaggcaggcgtgaaCgagtcgtcagcatagcggaa	15	9	1	2	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_ENST00000599416.2_RNA|AC068499.10_ENST00000594805.3_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			Somatic	OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.3_Intron	p.S46S	NM_002866.4	NP_002857.1	WXS	Illumina GAIIx	Phase_I	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	42	273	---	---	---	---	T	18313413	C	T	18313413	2	4	28	1	0	0	0	0	0	0	0	1	12931	523	19	2		2	RAB3A	19	18313413	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	9337045	18313413	40815570	58	1926										
ZBTB32	27033	broad.mit.edu	37	chr19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggttggtggggggccagcCtgccctgtggagcatcctgc	17	11	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.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H|KMT2B_ENST00000420124.1_5'Flank			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		Somatic				ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H	p.P260H			WXS	Illumina GAIIx	Phase_I	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	14	135	---	---	---	---	A	36206307	C	A	36206307	3	1	28	1	0	0	0	0	1	0	0	0	17532	681	24	1	781	1	ZBTB32	19	36206307	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	17892894	36206307	22922676	59	1927										
ZNF574	64763	broad.mit.edu	37	chr19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccgggcgccagccccaccGctgcccatcctgtggggctg	14	18	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|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H			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		Somatic				ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H	p.R637H			WXS	Illumina GAIIx	Phase_I	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	10	199	---	---	---	---	A	42584668	G	A	42584668	3	1	28	1	0	0	0	0	1	0	0	0	18003	1087	38	2	1912	2	ZNF574	19	42584668	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6378361	42584668	16544315	60	1928										
ZNF71	58491	broad.mit.edu	37	chr19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcagctggccagagaggcCgcggggagatgcaggtgcag	20	9	0	2	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		Somatic					p.P48L	NM_021216.4	NP_067039.1	WXS	Illumina GAIIx	Phase_I	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	9	53	---	---	---	---	T	57132798	C	T	57132798	3	4	28	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	14548130	57132798	1996185	61	1929										
GRIK1	2897	broad.mit.edu	37	chr21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgctgtcttcatacaccaCtgtcactgttttccagttgt	7	11	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.chr21:31062069C>T	ENST00000399907.1	-	3	934	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000399914.1_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_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		Somatic				GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M	p.V175M			WXS	Illumina GAIIx	Phase_I	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	20	226	---	---	---	---	T	31062069	C	T	31062069	3	4	28	1	0	0	0	0	1	0	0	0	6773	565	20	2	2453	2	GRIK1	21	31062069	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		31062069	17067826	62	1930										
DHRSX	207063	broad.mit.edu	37	chrX	2184932	2184932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgccctaggtagttcaggcCgaaatgttcttcgaatccat	10	10	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.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		Somatic				DHRSX_ENST00000464935.1_5'UTR	p.G149S	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	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	23	253	---	---	---	---	T	2184932	C	T	2184932	3	4	28	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		2184932	153085628	63	1931										
FLNA	2316	broad.mit.edu	37	chrX	153587627	153587627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcacctggcacttgatgGccaccataggtgacgttgag	11	12	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_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000422373.1_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G	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	2316				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			Somatic				FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G	p.G1430G	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	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	9	69	---	---	---	---	A	153587627	G	A	153587627	2	1	28	1	0	0	0	0	0	0	0	1	5933	1190	42	2		2	FLNA	23	153587627	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	151402695	153587627	1682933	64	1932										
CSMD2	114784	broad.mit.edu	37	chr1	34112373	34112373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	catagaagcttcctatgagaGggctgagagagtcccgtccg	13	10	0	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.chr1:34112373G>A	ENST00000373380.1	-	8	1488	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	CSMD2_ENST00000373381.4_Missense_Mutation_p.P1550L|CSMD2_ENST00000373388.2_5'UTR			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		Somatic				CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L	p.P1550L	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	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	4	35	---	---	---	---	A	34112373	G	A	34112373	3	1	29	1	0	0	0	0	1	0	0	0	3945	1000	35	2	6098	2	CSMD2	1	34112373	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		34112373	215138248	1	1933										
KIAA0319L	79932	broad.mit.edu	37	chr1	35915489	35915489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	aggtttcacctccacagtggTccggtctgtgtcactctcac	9	14	4	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.chr1:35915489T>C	ENST00000325722.3	-	15	2566	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A	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		Somatic				KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A	p.T778A	NM_024874.4	NP_079150.3	WXS	Illumina GAIIx	Phase_I	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	22	154	---	---	---	---	C	35915489	T	C	35915489	3	2	29	1	0	0	0	0	1	0	0	0	8169	1667	58	2	845	2	KIAA0319L	1	35915489	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08	1803116	35915489	213335132	2	1934										
SF3A3	10946	broad.mit.edu	37	chr1	38442585	38442585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	ctctacatattcatagatctGggcttctagaaaagcaatgt	7	8	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.chr1:38442585G>T	ENST00000373019.4	-	12	1931	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K|SF3A3_ENST00000489537.1_5'Flank	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		Somatic				SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K	p.Q326K	NM_006802.2	NP_006793.1	WXS	Illumina GAIIx	Phase_I	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	28	185	---	---	---	---	T	38442585	G	T	38442585	3	4	29	1	0	0	0	0	1	0	0	0	14148	1357	47	1	553	1	SF3A3	1	38442585	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	2527096	38442585	210808036	3	1935										
ZFYVE9	9372	broad.mit.edu	37	chr1	52704167	52704167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	atgactgtgaacggtgttcaGattgccttgtgcctaatgaa	11	7	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.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		Somatic				ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H	p.D360H			WXS	Illumina GAIIx	Phase_I	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	17	206	---	---	---	---	C	52704167	G	C	52704167	3	2	29	1	0	0	0	0	1	0	0	0	17668	942	33	4	1084	4	ZFYVE9	1	52704167	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	14261582	52704167	196546454	4	1936										
SCN7A	6332	broad.mit.edu	37	chr2	167262388	167262388	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	tcacatcttgacccataactCtctttgtaaaagcaagtaag	5	10	3	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.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		Somatic					p.R1584I	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	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	51	357	---	---	---	---	A	167262388	C	A	167262388	3	1	29	1	0	0	0	0	1	0	0	0	13923	913	32	3	301	3	SCN7A	2	167262388	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		167262388	75936985	5	1937										
CDKN2AIPNL	91368	broad.mit.edu	37	chr5	133747428	133747428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gcgcaggatgaattccatgcGggccttccattgcttctcgc	11	13	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	A	133747428	G	A	133747428	3	1	29	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		133747428	47167832	6	1938										
KIAA1324L	222223	broad.mit.edu	37	chr7	86556150	86556150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	aaggcggacaatccttcttcTctccagaagggggcaatcta	10	11	3	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.chr7:86556150T>C	ENST00000450689.2	-	9	1357	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G	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		Somatic				KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G	p.E391G	NM_001142749.2	NP_001136221.1	WXS	Illumina GAIIx	Phase_I	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	14	265	---	---	---	---	C	86556150	T	C	86556150	3	2	29	1	0	0	0	0	1	0	0	0	8224	1551	54	2	1973	2	KIAA1324L	7	86556150	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08		86556150	72582513	7	1939										
MET	4233	broad.mit.edu	37	chr7	116340051	116340051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gtattctcacagaaaagagaAaaaagagatccacaaagaag	8	6	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.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	4233	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	202	---	---	---	---	G	116340051	A	G	116340051	3	3	29	1	0	0	0	0	1	0	0	0	9485	15	1	2	915	2	MET	7	116340051	Missense_Mutation	SNP	A	TCGA-CH-5771-01A-21D-1576-08	29783901	116340051	42798612	8	1940										
RP1	6101	broad.mit.edu	37	chr8	55540711	55540711	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	ctagatgattttgaaaattgTtcactaaggaagtttcagga	9	4	2	3	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*		Somatic					p.C1423*	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	15	110	---	---	---	---	A	55540711	T	A	55540711	4	1	29	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	9	1941										
MSC	9242	broad.mit.edu	37	chr8	72756371	72756371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gtactcccgctgcagcccccGaagctccatctcctccggat	8	19	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.chr8:72756371G>A	ENST00000325509.4	-	1	332	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron|MSC_ENST00000518440.1_5'Flank	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		Somatic				RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	p.R15W	NM_005098.3	NP_005089.2	WXS	Illumina GAIIx	Phase_I	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	4	21	---	---	---	---	A	72756371	G	A	72756371	3	1	29	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	10	1942										
RNF26	79102	broad.mit.edu	37	chr11	119207000	119207000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gccaggaccagagcaagacaGtgttgctcctgccctgccgg	13	14	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.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		Somatic				RP11-334E6.10_ENST00000501918.2_RNA	p.V390L	NM_032015.4	NP_114404.1	WXS	Illumina GAIIx	Phase_I	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	16	95	---	---	---	---	T	119207000	G	T	119207000	3	4	29	1	0	0	0	0	1	0	0	0	13486	1029	36	3	1170	3	RNF26	11	119207000	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		119207000	15799516	11	1943										
SBNO1	55206	broad.mit.edu	37	chr12	123834911	123834911	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	agccctgcatctccaccatcAatatcaaagaggtcattcgg	7	13	4	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.chr12:123834911A>G	ENST00000602398.1	-	2	205	c.78T>C	c.(76-78)atT>atC	p.I26I	Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000420886.2_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I|SBNO1_ENST00000267176.4_Silent_p.I26I			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			Somatic				SBNO1_ENST00000267176.4_Silent_p.I26I|SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I	p.I26I	NM_001167856.1	NP_001161328.1	WXS	Illumina GAIIx	Phase_I	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	16	386	---	---	---	---	G	123834911	A	G	123834911	2	3	29	1	0	0	0	0	0	0	0	1	13862	126	5	2		2	SBNO1	12	123834911	Silent	SNP	A	TCGA-CH-5771-01A-21D-1576-08		123834911	10016984	12	1944										
INTS6	26512	broad.mit.edu	37	chr13	51942011	51942011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	actgccttgcacatgcttcaGtaaagtgaagattctttcat	7	9	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.chr13:51942011G>T	ENST00000311234.4	-	17	2972	c.2500C>A	c.(2500-2502)Ctg>Atg	p.L834M	INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Missense_Mutation_p.L518M|INTS6_ENST00000425000.1_Missense_Mutation_p.L402M|INTS6_ENST00000497989.1_Missense_Mutation_p.L656M|INTS6_ENST00000398119.2_Missense_Mutation_p.L821M	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	834					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.L834M(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACATGCTTCAGTAAAGTGAAG	0.269																																						ENST00000311234.4																			1	Substitution - Missense(1)	p.L834M(1)	prostate(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2500-2502)Ctg>Atg		integrator complex subunit 6							76	72	74					13																	51942011		2201	4281	6482	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51942011G>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.2500C>A	13.37:g.51942011G>T	ENSP00000310260:p.Leu834Met		Somatic				INTS6_ENST00000497989.1_Missense_Mutation_p.L656M|INTS6_ENST00000425000.1_Missense_Mutation_p.L402M|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Missense_Mutation_p.L518M|INTS6_ENST00000398119.2_Missense_Mutation_p.L821M	p.L834M	NM_012141.2	NP_036273.1	WXS	Illumina GAIIx	Phase_I	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	17	2972	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	834					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.2500C>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296695	0.81025	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	.	.	.	5.37	4.51	0.55191	.	0.071477	0.56097	D	0.000022	T	0.77968	0.4210	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78937	-0.2007	9	0.48119	T	0.1	-5.5668	12.6253	0.56626	0.0796:0.0:0.9204:0.0	.	834	Q9UL03	INT6_HUMAN	M	834;821;656;402;518	.	ENSP00000310260:L834M	L	-	1	2	INTS6	50840012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.524000	0.85096	0.650000	0.86243	CTG		0.269	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		3	76	3	76	---	---	---	---	T	51942011	G	T	51942011	3	4	29	1	0	0	0	0	1	0	0	0	7782	1020	36	3	171	3	INTS6	13	51942011	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		51942011	63227867	13	1945										
PRMT5	10419	broad.mit.edu	37	chr14	23397824	23397824	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	ggcatgcagaggaaatcaaaCctacaaccgcgacagaccca	9	13	1	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.chr14:23397824C>A	ENST00000324366.8	-	2	334	c.111G>T	c.(109-111)ggG>ggT	p.G37G	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000397440.4_Splice_Site_p.G20G|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000216350.8_Splice_Site_p.G20G|PRMT5-AS1_ENST00000595662.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000553897.1_Splice_Site_p.G37G|PRMT5_ENST00000397441.2_Splice_Site_p.G20G	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	37	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)	p.G37G(1)|p.G20G(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)		GGAAATCAAACCTACAACCGC	0.512																																						ENST00000324366.8																			2	Substitution - coding silent(2)	p.G37G(1)|p.G20G(1)	prostate(2)	endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(109-111)ggG>ggT		protein arginine methyltransferase 5							105	98	100					14																	23397824		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.chr14:23397824C>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.111-1G>T	14.37:g.23397824C>A			Somatic				PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000553897.1_Splice_Site_p.G37G|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Splice_Site_p.G20G|PRMT5_ENST00000397440.4_Splice_Site_p.G20G|PRMT5_ENST00000397441.2_Splice_Site_p.G20G	p.G37G	NM_006109.3	NP_006100.2	WXS	Illumina GAIIx	Phase_I	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	2	334	-	all_cancers(95;2.76e-05)		37					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Splice_Site	SNP	ENST00000324366.8	37	c.111G>T	CCDS9579.1																																																																																				0.512	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		Silent	4	100	4	100	---	---	---	---	A	23397824	C	A	23397824	5	1	29	1	0	0	0	0	0	0	1	0	12539	521	18	3	1866	3	PRMT5	14	23397824	Splice_Site	SNP	C	TCGA-CH-5771-01A-21D-1576-08		23397824	83951716	14	1946										
ATG2B	55102	broad.mit.edu	37	chr14	96800092	96800092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	tctgaagatacacccacagaGagggaatcttttctcaaata	7	9	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.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			Somatic					p.L380L	NM_018036.5	NP_060506	WXS	Illumina GAIIx	Phase_I	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	4	165	---	---	---	---	A	96800092	G	A	96800092	2	1	29	1	0	0	0	0	0	0	0	1	1094	929	33	2		2	ATG2B	14	96800092	Silent	SNP	G	TCGA-CH-5771-01A-21D-1576-08	73402268	96800092	10549448	15	1947										
FBN1	2200	broad.mit.edu	37	chr15	48729540	48729540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	aactgctgaatcatcaggtcCcacgatgatcccacttccat	6	14	2	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.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		Somatic					p.G2120R	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	T	48729540	C	T	48729540	3	4	29	1	0	0	0	0	1	0	0	0	5702	632	22	2	2317	2	FBN1	15	48729540	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		48729540	53801852	16	1948										
SLC13A5	284111	broad.mit.edu	37	chr17	6597493	6597493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gcagggtggccacaaagatgGccacagtggcatcggagaca	15	10	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.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_ENST00000381074.4_Missense_Mutation_p.A317V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V	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		Somatic				SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V	p.A360V	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	WXS	Illumina GAIIx	Phase_I	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	6	28	---	---	---	---	A	6597493	G	A	6597493	3	1	29	1	0	0	0	0	1	0	0	0	14395	1203	42	2	647	2	SLC13A5	17	6597493	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		6597493	74597717	17	1949										
NEUROD2	4761	broad.mit.edu	37	chr17	37762300	37762308	+	In_Frame_Del	DEL	GGTCTGGCC	GGTCTGGCC	-													0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	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)cggccagaccta>cta		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		Somatic					p.RPD182del	NM_006160.3	NP_006151.3	WXS	Illumina GAIIx	Phase_I	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	29	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	18	1950										
MARK4	57787	broad.mit.edu	37	chr19	45762287	45762287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	ccgctcctcggacaaaggccCgtcctggtccagccgctcac	10	19	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		Somatic				MARK4_ENST00000262891.4_Missense_Mutation_p.P31L	p.P31L	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	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	6	26	---	---	---	---	T	45762287	C	T	45762287	3	4	29	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	19	1951										
C19orf75	284369	broad.mit.edu	37	chr19	51768703	51768703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	cttccatgggattcccacacCctctgtgcagtggtggatgg	12	12	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.chr19:51768703C>T	ENST00000316401.7	+	3	485	c.104C>T	c.(103-105)cCc>cTc	p.P35L	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	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		Somatic				SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	p.P35L	NM_173635.1	NP_775906.1	WXS	Illumina GAIIx	Phase_I					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	29	152	---	---	---	---	T	51768703	C	T	51768703	3	4	29	1	0	0	0	0	1	0	0	0	1949	623	22	2	110	2	C19orf75	19	51768703	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	6006416	51768703	7360280	20	1952										
NPEPL1	79716	broad.mit.edu	37	chr20	57290253	57290253	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	gccacaggcttcggtgtggcCctcctgctggcgctcttcgg	14	15	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.chr20:57290253C>T	ENST00000356091.6	+	12	1731	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A|NPEPL1_ENST00000525817.1_Silent_p.A433A	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			Somatic				NPEPL1_ENST00000525817.1_Silent_p.A433A|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A	p.A481A	NM_024663.3	NP_078939.3	WXS	Illumina GAIIx	Phase_I	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	5	9	---	---	---	---	T	57290253	C	T	57290253	2	4	29	1	0	0	0	0	0	0	0	1	10574	610	22	2		2	NPEPL1	20	57290253	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		57290253	5735267	21	1953										
CDR1	1038	broad.mit.edu	37	chrX	139866376	139866376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.22222222222222	6.11111111111111	0.679012345679012	1	1	0	tccagcaaatccacgtcttcCaacaaagccatgtcttccat	4	15	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.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		Somatic					p.L52F	NM_004065.2	NP_004056.2	WXS	Illumina GAIIx	Phase_I	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	37	101	---	---	---	---	A	139866376	C	A	139866376	3	1	29	1	0	0	0	0	1	0	0	0	3171	593	21	1	636	1	CDR1	23	139866376	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		139866376	15404184	22	1954										
TMEM56	148534	broad.mit.edu	37	chr1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tggaaagtgattggtgacaaAttttttataatgcatcattg	9	3	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.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		Somatic				RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	WXS	Illumina GAIIx	Phase_I	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	7	188	---	---	---	---	T	95616924	A	T	95616924	3	4	30	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		95616924	153633697	1	1955										
OR6N1	128372	broad.mit.edu	37	chr1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ggtaaatgagaagcaacaagAggaagagataaatctggaca	12	4	1	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.chr1:158736387A>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		Somatic					p.L29H	NM_001005185.1	NP_001005185.1	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	T	158736387	A	T	158736387	3	4	30	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	63119463	158736387	90514234	2	1956										
AIM2	9447	broad.mit.edu	37	chr1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gcagcaggactcatttcagcTtgacttagtggctttggttt	11	8	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.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		Somatic				AIM2_ENST00000411768.1_5'UTR	p.Q103H	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	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	7	266	---	---	---	---	G	159038445	T	G	159038445	3	3	30	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	3	1957										
DTL	51514	broad.mit.edu	37	chr1	212274088	212274088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gccaagttgaaaatcttcatTtggatctgtgctgccttgct	9	9	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.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_ENST00000475419.1_3'UTR|RN7SKP98_ENST00000517070.1_RNA|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			Somatic				DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	p.L586L	NM_016448.2	NP_057532.2	WXS	Illumina GAIIx	Phase_I	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	16	169	---	---	---	---	C	212274088	T	C	212274088	2	2	30	1	0	0	0	0	0	0	0	1	4787	1838	64	2		2	DTL	1	212274088	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	53235643	212274088	36976533	4	1958										
C2orf71	388939	broad.mit.edu	37	chr2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	cctcagagccctcaggaggcGttcatccacattcctttttg	8	14	3	1	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		Somatic					p.R320C	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	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	38	246	---	---	---	---	A	29296170	G	A	29296170	3	1	30	1	0	0	0	0	1	0	0	0	2191	1145	40	2	2916	2	C2orf71	2	29296170	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		29296170	213903203	5	1959										
ZNF638	27332	broad.mit.edu	37	chr2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-													0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	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_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	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)ttafs		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		Somatic				ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	p.L457fs	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	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	30	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	6	1960										
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	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		Somatic				IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H	NM_001282387.1	NP_001269316.1	WXS	Illumina GAIIx	Phase_I	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	7	143	---	---	---	---	T	209113112	C	T	209113112	3	4	30	1	0	0	0	0	1	0	0	0	7494	536	19	2	877	2	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	137530212	209113112	34086261	7	1961										
MYL1	4632	broad.mit.edu	37	chr2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gtgcaggtgccggtgccgggGctggggcagccgcagccgca	20	13	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		Somatic					p.A19V	NM_079420.2	NP_524144.1	WXS	Illumina GAIIx	Phase_I	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	8	91	---	---	---	---	A	211179711	G	A	211179711	3	1	30	1	0	0	0	0	1	0	0	0	10043	1203	42	2	588	2	MYL1	2	211179711	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	2066599	211179711	32019662	8	1962										
CASR	846	broad.mit.edu	37	chr3	122003254	122003254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gctcatcttcttcatcgtctGgatctccttcattccagcct	5	15	7	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.chr3:122003254G>T	ENST00000490131.1	+	7	2825	c.2453G>T	c.(2452-2454)tGg>tTg	p.W818L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.W818L|CASR_ENST00000498619.1_Missense_Mutation_p.W828L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	818					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)	p.W818L(1)		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)	TTCATCGTCTGGATCTCCTTC	0.527																																						ENST00000498619.1																			1	Substitution - Missense(1)	p.W818L(1)	prostate(1)	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.(2482-2484)tGg>tTg		calcium-sensing receptor	Cinacalcet(DB01012)						93	83	86					3																	122003254		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.chr3:122003254G>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.2453G>T	3.37:g.122003254G>T	ENSP00000418685:p.Trp818Leu		Somatic				CASR_ENST00000490131.1_Missense_Mutation_p.W818L|CASR_ENST00000296154.5_Missense_Mutation_p.W818L	p.W828L	NM_001178065.1	NP_001171536	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2921	+			818					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2483G>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219901	0.79464	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.91521	-2.86;-2.86;-2.86	5.89	5.89	0.94794	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97158	0.9071	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97842	1.0269	10	0.87932	D	0	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	828;818	E7ENE0;P41180	.;CASR_HUMAN	L	818;828;818	ENSP00000418685:W818L;ENSP00000420194:W828L;ENSP00000296154:W818L	ENSP00000296154:W818L	W	+	2	0	CASR	123485944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.793000	0.96121	0.561000	0.74099	TGG		0.527	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	156	4	156	---	---	---	---	T	122003254	G	T	122003254	3	4	30	1	0	0	0	0	1	0	0	0	2682	1357	47	1	2505	1	CASR	3	122003254	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		122003254	76019176	9	1963										
HTT	3064	broad.mit.edu	37	chr4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ctcagatgagtctaggaagaGctgtaccgttgggatggcca	14	8	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.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		Somatic					p.S1061N	NM_002111.6	NP_002102	WXS	Illumina GAIIx	Phase_I	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	14	637	---	---	---	---	A	3148562	G	A	3148562	3	1	30	1	0	0	0	0	1	0	0	0	7457	971	34	2	3280	2	HTT	4	3148562	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		3148562	188005714	10	1964										
KLHL5	51088	broad.mit.edu	37	chr4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gaagtggatgatggcactagTgaagaagaaaatgaatctga	13	3	1	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.chr4:39064620T>G	ENST00000504108.1	+	1	769	c.486T>G	c.(484-486)agT>agG	p.S162R	KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000261425.3_Missense_Mutation_p.S116R	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		Somatic				KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron	p.S116R	NM_001007075.2	NP_001007076.1	WXS	Illumina GAIIx	Phase_I	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	6	168	---	---	---	---	G	39064620	T	G	39064620	3	3	30	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	11	1965										
LYSMD3	116068	broad.mit.edu	37	chr5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	agctgagtcactgtaagcaaGagaatcattagctggcaaaa	10	7	2	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_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	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		Somatic				LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	p.L151V	NM_198273.1	NP_938014.1	WXS	Illumina GAIIx	Phase_I	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	4	197	---	---	---	---	C	89815106	G	C	89815106	3	2	30	1	0	0	0	0	1	0	0	0	9126	942	33	4	473	4	LYSMD3	5	89815106	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		89815106	91100154	12	1966										
ZCCHC10	54819	broad.mit.edu	37	chr5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-													0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	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_ENST00000513848.1_In_Frame_Del_p.153_154KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000324170.3_In_Frame_Del_p.167_168KK>K|ZCCHC10_ENST00000513541.1_3'UTR			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)aagaaa>aaa		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		Somatic				ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.189_190KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K	p.167_168KK>K	NM_017665.1	NP_060135.1	WXS	Illumina GAIIx	Phase_I	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	567_569	-			189			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	30	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	13	1967										
PCDHA10	56139	broad.mit.edu	37	chr5	140237082	140237082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tctgcgtgggacgcggacgcGcaggagaacgccctggtgtc	17	12	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.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_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	56139							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			Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A483A	NM_018901.2	NP_061724.1	WXS	Illumina GAIIx	Phase_I			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	6	210	---	---	---	---	A	140237082	G	A	140237082	2	1	30	1	0	0	0	0	0	0	0	1	11520	1074	38	2		2	PCDHA10	5	140237082	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7902797	140237082	40678178	14	1968										
PCDHGA2	56113	broad.mit.edu	37	chr5	140720422	140720422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	cacacgggcgaggtgcgcacGgcgcgagccctgctggacag	17	14	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	56113							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			Somatic				PCDHGA1_ENST00000517417.1_Intron	p.T628T	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			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	14	154	---	---	---	---	A	140720422	G	A	140720422	2	1	30	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	15	1969										
PCDHGA10	56106	broad.mit.edu	37	chr5	140794395	140794395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ccactcagcagcaacgtgtcGttgagcctgtttgtgctgga	12	11	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.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_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	56106							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			Somatic				PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_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|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.S551S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina GAIIx	Phase_I			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	10	329	---	---	---	---	A	140794395	G	A	140794395	2	1	30	1	0	0	0	0	0	0	0	1	11551	1132	40	2		2	PCDHGA10	5	140794395	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	73973	140794395	40120865	16	1970										
FAT2	2196	broad.mit.edu	37	chr5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gctgagtgaagcggggtgggTggaggtttccatcctccaca	16	9	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.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		Somatic					p.H1551R	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	7	94	---	---	---	---	C	150928993	T	C	150928993	3	2	30	1	0	0	0	0	1	0	0	0	5690	1696	59	2	8461	2	FAT2	5	150928993	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	10134598	150928993	29986267	17	1971										
EYS	346007	broad.mit.edu	37	chr6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ttcagaagaaattacaaggaTatctcctaattgaatttgca	6	6	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.chr6:66205045T>C	ENST00000370621.3	-	4	785	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000503581.1_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_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		Somatic				EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V	p.I87V	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	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	7	228	---	---	---	---	C	66205045	T	C	66205045	3	2	30	1	0	0	0	0	1	0	0	0	5332	1406	49	2	9297	2	EYS	6	66205045	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08		66205045	104910022	18	1972										
MEOX2	4223	broad.mit.edu	37	chr7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gcggccgtagtcccccggcgCgcacgcggccccagtcgggg	17	18	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.chr7:15725595C>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		Somatic					p.A145T	NM_005924.4	NP_005915.2	WXS	Illumina GAIIx	Phase_I	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	5	219	---	---	---	---	T	15725595	C	T	15725595	3	4	30	1	0	0	0	0	1	0	0	0	9474	768	27	2	493	2	MEOX2	7	15725595	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		15725595	143413068	19	1973										
HECW1	23072	broad.mit.edu	37	chr7	43484982	43484982	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	acggtcttctcctcgcaagaCgacgaggaggaggagaacag	14	10	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.chr7:43484982C>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																																						ENST00000395891.2																			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			Somatic				HECW1_ENST00000453890.1_Silent_p.D737D	p.D737D	NM_015052.3	NP_055867.3	WXS	Illumina GAIIx	Phase_I	Q76N89	HECW1_HUMAN			11	2816	+								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	76	122	---	---	---	---	T	43484982	C	T	43484982	2	4	30	1	0	0	0	0	0	0	0	1	7042	535	19	2		2	HECW1	7	43484982	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	27759387	43484982	115653681	20	1974										
KIAA1549	57670	broad.mit.edu	37	chr7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aggtgaaggcacagtgcaggCcgcacaccaagtgtatggtc	14	10	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	57	80	---	---	---	---	G	138603105	C	G	138603105	3	3	30	1	0	0	0	0	1	0	0	0	8244	739	26	4	4661	4	KIAA1549	7	138603105	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	95118123	138603105	20535558	21	1975										
OR2A5	393046	broad.mit.edu	37	chr7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ctgcaatattctgtcatcatGagatggggagtgtgcacagt	12	7	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.chr7:143747902G>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		Somatic					p.M136I	NM_012365.1	NP_036497.1	WXS	Illumina GAIIx	Phase_I	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	7	441	---	---	---	---	A	143747902	G	A	143747902	3	1	30	1	0	0	0	0	1	0	0	0	10981	1290	45	2	410	2	OR2A5	7	143747902	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5144797	143747902	15390761	22	1976										
KCNB2	9312	broad.mit.edu	37	chr8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gaacgaagaactgaggcgagAggcagagactatgcgagagc	16	7	0	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.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		Somatic					p.E155V	NM_004770.2	NP_004761.2	WXS	Illumina GAIIx	Phase_I	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	9	185	---	---	---	---	T	73480433	A	T	73480433	3	4	30	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	23	1977										
GDF6	392255	broad.mit.edu	37	chr8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tgtagaccacattattgcccGcgtcgatgtatagaatgctg	10	9	0	2	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		Somatic					p.A435V	NM_001001557.2	NP_001001557.1	WXS	Illumina GAIIx	Phase_I	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	7	56	---	---	---	---	A	97156855	G	A	97156855	3	1	30	1	0	0	0	0	1	0	0	0	6317	1087	38	2	67	2	GDF6	8	97156855	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23676422	97156855	49207167	24	1978										
C9orf93	203238	broad.mit.edu	37	chr9	15744747	15744747	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ggcatgttagtgtgcacaggAgagccccaagacaagcataa	12	9	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.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			Somatic				CCDC171_ENST00000297641.3_Silent_p.G842G	p.G842G	NM_173550.2	NP_775821.2	WXS	Illumina GAIIx	Phase_I	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	34	57	---	---	---	---	G	15744747	A	G	15744747	2	3	30	1	0	0	0	0	0	0	0	1	2506	291	11	2		2	C9orf93	9	15744747	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08		15744747	125468684	25	1979										
IFNA10	3446	broad.mit.edu	37	chr9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	acaagggctgtatttcctctCtattagataaagagtgattc	8	7	1	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.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		Somatic					p.E156Q	NM_002171.1	NP_002162.1	WXS	Illumina GAIIx	Phase_I	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	8	723	---	---	---	---	G	21206631	C	G	21206631	3	3	30	1	0	0	0	0	1	0	0	0	7532	922	32	4	107	4	IFNA10	9	21206631	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	5461884	21206631	120006800	26	1980										
KIAA1045	23349	broad.mit.edu	37	chr9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tccaggaagagagtagtgccGgccgcgcagcctgggagcgg	18	11	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.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	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		Somatic				KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	p.G75S	NM_015297.1	NP_056112.1	WXS	Illumina GAIIx	Phase_I	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	67	103	---	---	---	---	A	34971518	G	A	34971518	3	1	30	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	27	1981										
GFI1B	8328	broad.mit.edu	37	chr9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aaggcttccagcgcaaggtgGacctgcggcggcaccgcgag	16	13	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.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_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		Somatic				GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N	p.D318N			WXS	Illumina GAIIx	Phase_I	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	35	128	---	---	---	---	A	135866396	G	A	135866396	3	1	30	1	0	0	0	0	1	0	0	0	6340	1174	41	2	974	2	GFI1B	9	135866396	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	100894878	135866396	5347035	28	1982										
CHAT	1103	broad.mit.edu	37	chr10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tgttgtcattaatttccgccGtctcagtgagggggatctgt	12	8	3	1	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_ENST00000339797.1_Missense_Mutation_p.R205H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_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		Somatic				CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H	p.R241H	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	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	10	380	---	---	---	---	A	50835688	G	A	50835688	3	1	30	1	0	0	0	0	1	0	0	0	3313	1145	40	2	1038	2	CHAT	10	50835688	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		50835688	84699059	29	1983										
SORBS1	10580	broad.mit.edu	37	chr10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aagacgaggcccggagagtcAccgctcccttcccagtgcag	12	15	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.chr10:97192294A>T	ENST00000361941.3	-	4	238	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000371247.2_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR	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		Somatic				SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_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_ENST00000354106.3_Missense_Mutation_p.V71E	p.V71E			WXS	Illumina GAIIx	Phase_I	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	4	128	---	---	---	---	T	97192294	A	T	97192294	3	4	30	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	30	1984										
COL17A1	1308	broad.mit.edu	37	chr10	105798243	105798243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ggaggcccagggggcccaggGggccctggcgggcctgacac	20	14	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.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			Somatic				COL17A1_ENST00000369733.3_Silent_p.P952P	p.P997P	NM_000494.3	NP_000485.3	WXS	Illumina GAIIx	Phase_I	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	15	340	---	---	---	---	A	105798243	G	A	105798243	2	1	30	1	0	0	0	0	0	0	0	1	3674	1219	43	2		2	COL17A1	10	105798243	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8605949	105798243	29736504	31	1985										
SORCS3	22986	broad.mit.edu	37	chr10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	actacaaatctatcttcagcCggcattgcaccaaggaggac	8	12	3	0	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		Somatic				SORCS3_ENST00000369699.4_5'UTR	p.R694W	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	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	7	214	---	---	---	---	T	106959827	C	T	106959827	3	4	30	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	32	1986										
TDRD1	56165	broad.mit.edu	37	chr10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	catacagtgtcagttgagaaAtgttctgagaatgggactgt	12	5	2	2	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_ENST00000369282.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369280.1_Intron	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		Somatic				TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369282.1_Intron	p.K1102N	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	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	72	130	---	---	---	---	C	115986961	A	C	115986961	3	2	30	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	33	1987										
PSMA1	5682	broad.mit.edu	37	chr11	14535392	14535392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	agcaataaggagaccaacacCatatggtctccggccatatc	8	12	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.chr11:14535392C>A	ENST00000396394.2	-	6	781	c.385G>T	c.(385-387)Ggt>Tgt	p.G129C	PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C|PSMA1_ENST00000530457.1_Missense_Mutation_p.G104C|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	129					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)	p.G135C(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGACCAACACCATATGGTCTC	0.308																																						ENST00000530457.1																			1	Substitution - Missense(1)	p.G135C(1)	prostate(1)	large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(310-312)Ggt>Tgt		proteasome (prosome, macropain) subunit, alpha type, 1							70	69	69					11																	14535392		2200	4294	6494	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.chr11:14535392C>A	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.385G>T	11.37:g.14535392C>A	ENSP00000379676:p.Gly129Cys		Somatic				PSMA1_ENST00000555531.1_Intron|PSMA1_ENST00000418988.2_Missense_Mutation_p.G135C|PSMA1_ENST00000419365.2_Intron|PSMA1_ENST00000396394.2_Missense_Mutation_p.G129C|PSMA1_ENST00000396393.1_Missense_Mutation_p.G129C	p.G104C			WXS	Illumina GAIIx	Phase_I	P25786	PSA1_HUMAN			6	840	-			129					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.310G>T	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830213	0.91036	.	.	ENSG00000129084	ENST00000396394;ENST00000396393;ENST00000530457;ENST00000418988	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87806	0.2628	10	0.87932	D	0	-21.1684	19.5083	0.95130	0.0:1.0:0.0:0.0	.	135;129	P25786-2;P25786	.;PSA1_HUMAN	C	129;129;104;135	ENSP00000379676:G129C;ENSP00000379675:G129C;ENSP00000441166:G104C;ENSP00000414359:G135C	ENSP00000379675:G129C	G	-	1	0	PSMA1	14491968	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.363000	0.66104	2.611000	0.88343	0.591000	0.81541	GGT		0.308	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		3	69	3	69	---	---	---	---	A	14535392	C	A	14535392	3	1	30	1	0	0	0	0	1	0	0	0	12666	594	21	1	426	1	PSMA1	11	14535392	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		14535392	120471124	34	1988										
OR5D18	219438	broad.mit.edu	37	chr11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	catttcatttttaggatgcgTagtacaattctttttcttct	5	7	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.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		Somatic					p.V99A	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	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	9	502	---	---	---	---	C	55587401	T	C	55587401	3	2	30	1	0	0	0	0	1	0	0	0	11157	1638	57	2	298	2	OR5D18	11	55587401	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	41052009	55587401	79419115	35	1989										
OR4D6	219983	broad.mit.edu	37	chr11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	cactctggggaggggcggaaCaaggccctctccacgtgcac	14	14	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		Somatic					p.N234K	NM_001004708.1	NP_001004708.1	WXS	Illumina GAIIx	Phase_I	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	4	149	---	---	---	---	G	59225135	C	G	59225135	3	3	30	1	0	0	0	0	1	0	0	0	11058	477	17	4	704	4	OR4D6	11	59225135	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	3637734	59225135	75781381	36	1990										
TIGD3	220359	broad.mit.edu	37	chr11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ccaagtacagcgggatcgacGaggctctgctctgctggtac	13	12	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.chr11:65123520G>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		Somatic					p.E81Q	NM_145719.2	NP_663771.1	WXS	Illumina GAIIx	Phase_I	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	9	172	---	---	---	---	C	65123520	G	C	65123520	3	2	30	1	0	0	0	0	1	0	0	0	15894	1059	37	4	243	4	TIGD3	11	65123520	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5898385	65123520	69882996	37	1991										
FAT3	120114	broad.mit.edu	37	chr11	92088335	92088335	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aaagacaaagggcggcctgtCtctctgtcatctgtttcctt	9	11	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.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V			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)	Somatic				FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V	p.V1019V			WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	A	92088335	C	A	92088335	2	1	30	1	0	0	0	0	0	0	0	1	5691	900	32	3		3	FAT3	11	92088335	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	26964815	92088335	42918181	38	1992										
CASP1	834	broad.mit.edu	37	chr11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ctgttacctggtgtggaagaGcagaaagcgataaaatcctt	11	7	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.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000353247.5_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		Somatic				CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W	p.C331W	NM_001257118.1	NP_001244047.1	WXS	Illumina GAIIx	Phase_I	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	13	106	---	---	---	---	C	104899864	G	C	104899864	3	2	30	1	0	0	0	0	1	0	0	0	2668	963	34	4	233	4	CASP1	11	104899864	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	12811529	104899864	30106652	39	1993										
BACE1	23621	broad.mit.edu	37	chr11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	agccctgccccgacttgcccCtcaggttgtccaccatctcc	7	20	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.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|AP000892.4_ENST00000504906.1_RNA|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		Somatic				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	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	WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	G	117186309	C	G	117186309	3	3	30	1	0	0	0	0	1	0	0	0	1281	681	24	4	1338	4	BACE1	11	117186309	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	12286445	117186309	17820207	40	1994										
ARHGAP32	9743	broad.mit.edu	37	chr11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	atcctctttccctggcaattCtacttcttcagcagccacct	4	16	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.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*	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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	215	---	---	---	---	A	128844094	C	A	128844094	4	1	30	1	0	0	0	0	0	1	0	0	881	922	32	3	3319	3	ARHGAP32	11	128844094	Nonsense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	11657785	128844094	6162422	41	1995										
FKBP4	2288	broad.mit.edu	37	chr12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	cagctggctgtgtgccagcaGcggatccgaaggcagcttgc	15	12	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.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	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	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		Somatic				RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.Q398H	NM_002014.3	NP_002005.1	WXS	Illumina GAIIx	Phase_I	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	37	195	---	---	---	---	T	2910444	G	T	2910444	3	4	30	1	0	0	0	0	1	0	0	0	5910	962	34	3	1228	3	FKBP4	12	2910444	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		2910444	130941451	42	1996										
GRIN2B	2904	broad.mit.edu	37	chr12	13717457	13717457	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gacaggttagccatgttcttGgccgtgcgcagcaggcgcag	15	11	1	0	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																																						ENST00000609686.1																			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			Somatic					p.A905A	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	2924	-								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	17	326	---	---	---	---	T	13717457	G	T	13717457	2	4	30	1	0	0	0	0	0	0	0	1	6780	1335	47	1		1	GRIN2B	12	13717457	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	10807013	13717457	120134438	43	1997										
AVPR1A	552	broad.mit.edu	37	chr12	63543828	63543828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aaccccttttggaaggccacAcccgcttgctctgcaccctt	7	17	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.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	552				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			Somatic					p.G263G	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	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	11	273	---	---	---	---	G	63543828	A	G	63543828	2	3	30	1	0	0	0	0	0	0	0	1	1231	146	6	2		2	AVPR1A	12	63543828	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08	49826371	63543828	70308067	44	1998										
AHNAK2	113146	broad.mit.edu	37	chr14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ctgcactttgggcaggtgccCtttgaggccggctccctcgg	14	14	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.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		Somatic				AHNAK2_ENST00000557457.1_Intron	p.G1574R	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	10	657	---	---	---	---	G	105417068	C	G	105417068	3	3	30	1	0	0	0	0	1	0	0	0	415	681	24	4	12671	4	AHNAK2	14	105417068	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		105417068	1932472	45	1999										
ABHD2	11057	broad.mit.edu	37	chr15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tatgttcttgttgcagatttAtgttcctctcatgctggtta	8	7	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.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		Somatic				ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	p.Y334C	NM_152924.4	NP_690888.1	WXS	Illumina GAIIx	Phase_I	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	33	123	---	---	---	---	G	89736470	A	G	89736470	3	3	30	1	0	0	0	0	1	0	0	0	82	449	16	2	1031	2	ABHD2	15	89736470	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08		89736470	12794922	46	2000										
RUNDC2A	92017	broad.mit.edu	37	chr16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ccacatcgcctcagacgtggGccggggtcgcgcctggctgc	15	16	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.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		Somatic				SNX29_ENST00000568359.1_3'UTR	p.G113V	NM_032167.3	NP_115543.3	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	T	12136844	G	T	12136844	3	4	30	1	0	0	0	0	1	0	0	0	13743	1203	42	3	356	3	RUNDC2A	16	12136844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		12136844	78217909	47	2001										
ACSM3	6296	broad.mit.edu	37	chr16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tttcctttgcagacatgccaGtgacagccacacctgtgtga	9	12	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.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T|ERI2_ENST00000300005.3_Missense_Mutation_p.L303V	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		Somatic				ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T	p.S216T	NM_005622.3	NP_005613.2	WXS	Illumina GAIIx	Phase_I	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	5	219	---	---	---	---	C	20792044	G	C	20792044	3	2	30	1	0	0	0	0	1	0	0	0	185	1029	36	4	661	4	ACSM3	16	20792044	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8655200	20792044	69562709	48	2002										
HERPUD1	9709	broad.mit.edu	37	chr16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tatgtgcttcctttgaaggcAtcacgttgggtggtttccat	11	8	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.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	10	263	---	---	---	---	G	56976046	A	G	56976046	3	3	30	1	0	0	0	0	1	0	0	0	7063	217	8	2	934	2	HERPUD1	16	56976046	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	36184002	56976046	33378707	49	2003										
CDH13	1012	broad.mit.edu	37	chr16	83704517	83704517	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	atcatcaacggaaaccccggGcagagctttgaaatccacac	8	13	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.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	10	221	---	---	---	---	C	83704517	G	C	83704517	2	2	30	1	0	0	0	0	0	0	0	1	3099	1190	42	4		4	CDH13	16	83704517	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	26728471	83704517	6650236	50	2004										
PER1	5187	broad.mit.edu	37	chr17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gcacggctgtgcaggggcccCatctgagacccggatcttgg	15	13	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.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000578089.1_5'Flank|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		Somatic				PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	p.G330W	NM_002616.2	NP_002607.2	WXS	Illumina GAIIx	Phase_I	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	5	203	---	---	---	---	A	8052022	C	A	8052022	3	1	30	1	0	0	0	0	1	0	0	0	11729	594	21	1	2948	1	PER1	17	8052022	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		8052022	73143188	51	2005										
PIK3R5	23533	broad.mit.edu	37	chr17	8792523	8792523	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	atggggatggtgtggagcttCcctggttttgcagtgtctgt	16	6	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.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000584803.1_Silent_p.G276G|PIK3R5_ENST00000581552.1_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	17	48	---	---	---	---	T	8792523	C	T	8792523	2	4	30	1	0	0	0	0	0	0	0	1	11922	842	30	2		2	PIK3R5	17	8792523	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	740501	8792523	72402687	52	2006										
MYH1	4619	broad.mit.edu	37	chr17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tttaagcttttcatcaagttGttgtttgtcattttctatat	5	5	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.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		Somatic				RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.Q1079K	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	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	11	78	---	---	---	---	T	10405105	G	T	10405105	3	4	30	1	0	0	0	0	1	0	0	0	10029	1386	48	3	2648	3	MYH1	17	10405105	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1612582	10405105	70790105	53	2007										
SLFN5	162394	broad.mit.edu	37	chr17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	atggttctccagttgagtttGtcatctgccacgccccgcag	10	13	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.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		Somatic				SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	p.L351F	NM_144975.3	NP_659412.3	WXS	Illumina GAIIx	Phase_I	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	13	281	---	---	---	---	C	33588030	G	C	33588030	3	2	30	1	0	0	0	0	1	0	0	0	14737	1368	48	4	1059	4	SLFN5	17	33588030	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23182925	33588030	47607180	54	2008										
RSAD1	55316	broad.mit.edu	37	chr17	48557076	48557076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gaggctgccatgcagaagtgTctggtgaccgaagctcagac	14	10	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	11	86	---	---	---	---	C	48557076	T	C	48557076	2	2	30	1	0	0	0	0	0	0	0	1	13694	1673	58	2		2	RSAD1	17	48557076	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	14969046	48557076	32638134	55	2009										
ATP5A1	498	broad.mit.edu	37	chr18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T													0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	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_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000593152.2_Frame_Shift_Ins_p.Y196fs	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)tatfs		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		Somatic				ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.Y246fs	p.Y196fs	NM_001257335.1	NP_001244264.1	WXS	Illumina GAIIx	Phase_I	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	30	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		43668136	34409112	56	2010										
HOOK2	29911	broad.mit.edu	37	chr19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	atacttttcctccaggttgcGgcattcaaatagccatttct	6	11	2	0	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		Somatic				HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C	p.R391C	NM_001100176.1	NP_001093646.1	WXS	Illumina GAIIx	Phase_I	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	5	281	---	---	---	---	A	12878871	G	A	12878871	3	1	30	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	57	2011										
SIPA1L3	23094	broad.mit.edu	37	chr19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	tccatcgacgtgcagggcatGcccgagcagagcttcttcga	12	13	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.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		Somatic					p.M213I	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	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	4	148	---	---	---	---	T	38572844	G	T	38572844	3	4	30	1	0	0	0	0	1	0	0	0	14331	1319	46	3	641	3	SIPA1L3	19	38572844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	25693973	38572844	20556139	58	2012										
C20orf114	92747	broad.mit.edu	37	chr20	31890815	31890815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	aaggccatgccaaggtggccCaactgatcgtgctggaagtg	14	10	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.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		Somatic				BPIFB1_ENST00000464032.1_3'UTR	p.Q359K	NM_033197.2	NP_149974.2	WXS	Illumina GAIIx	Phase_I	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	23	76	---	---	---	---	A	31890815	C	A	31890815	3	1	30	1	0	0	0	0	1	0	0	0	2082	595	21	1	1113	1	C20orf114	20	31890815	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		31890815	31134705	59	2013										
BRD1	23774	broad.mit.edu	37	chr22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	gctgttttccttgttgctgtTgcactcactcatctcttgag	8	11	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.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000457780.2_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_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		Somatic				BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D	p.N74D	NM_014577.1	NP_055392.1	WXS	Illumina GAIIx	Phase_I	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	6	200	---	---	---	---	C	50217746	T	C	50217746	3	2	30	1	0	0	0	0	1	0	0	0	1501	1812	63	2	3004	2	BRD1	22	50217746	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08		50217746	1086820	60	2014										
LMF2	91289	broad.mit.edu	37	chr22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ctttctgggaggctggcctgCgcttctccccgctgactggt	13	14	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.chr22:50941923C>T	ENST00000474879.2	-	14	2036	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	LMF2_ENST00000216080.5_Missense_Mutation_p.R649H|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H	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		Somatic				LMF2_ENST00000474879.2_Missense_Mutation_p.R674H|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H	p.R649H			WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	T	50941923	C	T	50941923	3	4	30	1	0	0	0	0	1	0	0	0	8846	768	27	2	106	2	LMF2	22	50941923	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	724177	50941923	362643	61	2015										
PDK3	5165	broad.mit.edu	37	chrX	24516991	24516991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ttagaatatgaaaataagagCcctgaggatccacaggtctt	9	7	1	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			Somatic				PDK3_ENST00000379162.4_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	p.S98S	NM_001142386.2	NP_001135858.1	WXS	Illumina GAIIx	Phase_I	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	31	14	---	---	---	---	T	24516991	C	T	24516991	2	4	30	1	0	0	0	0	0	0	0	1	11677	738	26	2		2	PDK3	23	24516991	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08		24516991	130753569	62	2016										
ZMYM3	9203	broad.mit.edu	37	chrX	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-													0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	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_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.Y1118fs	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)tatfs		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		Somatic				ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs	p.Y1118fs	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	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	30	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	63	2017										
ZCCHC5	203430	broad.mit.edu	37	chrX	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	actcccgggttgctggaggcGccagggactctggggctgct	17	12	1	0	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		Somatic					p.A116V	NM_152694.2	NP_689907.1	WXS	Illumina GAIIx	Phase_I	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	5	49	---	---	---	---	A	77913571	G	A	77913571	3	1	30	1	0	0	0	0	1	0	0	0	17588	1087	38	2	1084	2	ZCCHC5	23	77913571	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7449850	77913571	77356989	64	2018										
SPRY3	10251	broad.mit.edu	37	chrX	155003970	155003970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.73114224137931	1.41797283176594	0.371373836891078	1	1	0	ccctagtgagcacctcttcaTctgtgaggaatgtgggcgct	12	11	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: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		Somatic					p.I146N	NM_005840.1	NP_005831.1	WXS	Illumina GAIIx	Phase_I	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	7	221	---	---	---	---	A	155003970	T	A	155003970	3	1	30	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	77090399	155003970	266590	65	2019										
MAST2	23139	broad.mit.edu	37	chr1	46497980	46497980	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	agcatgaggcctcccatcatCatccaccgagctggcaagaa	9	14	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.chr1:46497980C>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			Somatic				MAST2_ENST00000372009.2_Intron	p.I1106I	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	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	4	117	---	---	---	---	T	46497980	C	T	46497980	2	4	31	1	0	0	0	0	0	0	0	1	9325	816	29	2		2	MAST2	1	46497980	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		46497980	202752641	1	2020										
COL11A1	1301	broad.mit.edu	37	chr1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tcccgtcagcgatgttaacaGttctgaagaggggatagtct	12	8	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.chr1:103544235G>A	ENST00000370096.3	-	3	779	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000358392.2_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_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		Somatic				COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I	p.T156I	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	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	68	88	---	---	---	---	A	103544235	G	A	103544235	3	1	31	1	0	0	0	0	1	0	0	0	3667	1029	36	2	5370	2	COL11A1	1	103544235	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	57046255	103544235	145706386	2	2021										
KIF14	9928	broad.mit.edu	37	chr1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tatccgacttcaaatgcagcTtaagtcggctactgtgggtg	11	9	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.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		Somatic					p.K37T	NM_014875.2	NP_055690.1	WXS	Illumina GAIIx	Phase_I	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	48	161	---	---	---	---	G	200587742	T	G	200587742	3	3	31	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	97043507	200587742	48662879	3	2022										
LGR6	59352	broad.mit.edu	37	chr1	202245638	202245638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gcgttccagaatctcaccagCcttgtggtgctgtgagtgct	12	11	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_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.S159S|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			Somatic				LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron	p.S211S	NM_001017403.1	NP_001017403.1	WXS	Illumina GAIIx	Phase_I	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	12	19	---	---	---	---	T	202245638	C	T	202245638	2	4	31	1	0	0	0	0	0	0	0	1	8758	738	26	2		2	LGR6	1	202245638	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	1657896	202245638	47004983	4	2023										
STAMBP	10617	broad.mit.edu	37	chr2	74072296	74072296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ttctgttttgtgtctcagaaAttaaaggagattgcatttcc	8	6	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.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_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			Somatic				STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	p.K94K	NM_213622.2	NP_998787.1	WXS	Illumina GAIIx	Phase_I	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	41	53	---	---	---	---	G	74072296	A	G	74072296	2	3	31	1	0	0	0	0	0	0	0	1	15249	98	4	2		2	STAMBP	2	74072296	Silent	SNP	A	TCGA-CH-5788-01A-11D-1576-08		74072296	169127077	5	2024										
HJURP	55355	broad.mit.edu	37	chr2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ggcccaagcaactgactcttCctggtctgacgtggcatcga	11	13	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.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_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		Somatic				HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	p.E126Q	NM_018410.3	NP_060880.3	WXS	Illumina GAIIx	Phase_I	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	7	128	---	---	---	---	G	234756069	C	G	234756069	3	3	31	1	0	0	0	0	1	0	0	0	7189	864	30	4	1890	4	HJURP	2	234756069	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	160683773	234756069	8443304	6	2025										
SUMF1	285362	broad.mit.edu	37	chr3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	cgcagttccttggaagccatCctcaccagtgttggtcaccg	10	14	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.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000405420.2_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		Somatic				SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N	p.D273N	NM_182760.3	NP_877437.2	WXS	Illumina GAIIx	Phase_I	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	7	403	---	---	---	---	T	4458835	C	T	4458835	3	4	31	1	0	0	0	0	1	0	0	0	15382	855	30	2	323	2	SUMF1	3	4458835	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		4458835	193563595	7	2026										
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-													0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	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)caggggggccctgtgcccccgccafs		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		Somatic				MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	WXS	Illumina GAIIx	Phase_I	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	31	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	46196186	50655021	147367409	8	2027										
MSL2	55167	broad.mit.edu	37	chr3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gagagtctccaggttttataTcttcactgaaactgcagata	8	8	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.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		Somatic				MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	p.D259V	NM_018133.3	NP_060603.2	WXS	Illumina GAIIx	Phase_I	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	57	156	---	---	---	---	A	135870947	T	A	135870947	3	1	31	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	85215926	135870947	62151483	9	2028										
SLC9A9	285195	broad.mit.edu	37	chr3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	cagattttcatccaggtccaCgccaactctgttaaacaaaa	5	12	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.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		Somatic				SLC9A9-AS2_ENST00000490153.1_RNA	p.V493M	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	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	6	573	---	---	---	---	T	143100949	C	T	143100949	3	4	31	1	0	0	0	0	1	0	0	0	14721	536	19	2	476	2	SLC9A9	3	143100949	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	7230002	143100949	54921481	10	2029										
POLN	353497	broad.mit.edu	37	chr4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gtctgcgtgtgtcacctgttCcacgggcacatccttcctgc	10	15	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.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		Somatic				POLN_ENST00000382865.1_Missense_Mutation_p.E667Q	p.E667Q			WXS	Illumina GAIIx	Phase_I	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	3	119	---	---	---	---	G	2097644	C	G	2097644	3	3	31	1	0	0	0	0	1	0	0	0	12207	864	30	4	731	4	POLN	4	2097644	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		2097644	189056632	11	2030										
PPP2R2C	5522	broad.mit.edu	37	chr4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tcggtaatcttccataatttGatagttttatctttaaaaac	4	6	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.chr4:6377648G>C	ENST00000382599.4	-	4	561	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I115M|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		Somatic				PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M	p.I115M	NM_181876.2	NP_870991.1	WXS	Illumina GAIIx	Phase_I	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	10	234	---	---	---	---	C	6377648	G	C	6377648	3	2	31	1	0	0	0	0	1	0	0	0	12386	1280	45	4	1022	4	PPP2R2C	4	6377648	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4280004	6377648	184776628	12	2031										
MFSD8	256471	broad.mit.edu	37	chr4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tgtatggctataccttcccaCtgtattttgggaaattgatt	8	7	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.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		Somatic				MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron	p.Q365H	NM_152778.2	NP_689991.1	WXS	Illumina GAIIx	Phase_I	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	30	60	---	---	---	---	G	128843022	C	G	128843022	3	3	31	1	0	0	0	0	1	0	0	0	9538	564	20	4	473	4	MFSD8	4	128843022	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	122465374	128843022	62311254	13	2032										
CHD1	1105	broad.mit.edu	37	chr5	98192174	98192174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ctggagccataaggagatctCtgatctagtggtgacctagg	13	8	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.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			Somatic					p.Q1681Q	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	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	53	21	---	---	---	---	T	98192174	C	T	98192174	2	4	31	1	0	0	0	0	0	0	0	1	3323	912	32	2		2	CHD1	5	98192174	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		98192174	82723086	14	2033										
CHD1	1105	broad.mit.edu	37	chr5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	aacgatgatcagaatgagatCtatcttttaaacttccttcc	5	9	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.chr5:98192340C>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		Somatic					p.R1626T	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	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	71	18	---	---	---	---	G	98192340	C	G	98192340	3	3	31	1	0	0	0	0	1	0	0	0	3323	913	32	4	259	4	CHD1	5	98192340	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	166	98192340	82722920	15	2034										
CCNG1	900	broad.mit.edu	37	chr5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	cagcccaagcaccttgggtgTgttggactgagctgctttta	12	10	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.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000504553.1_5'Flank|CCNG1_ENST00000511683.2_5'UTR|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_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*		Somatic				CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|AC112205.1_ENST00000599797.1_Intron	p.C96*	NM_004060.3	NP_004051.1	WXS	Illumina GAIIx	Phase_I	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	60	82	---	---	---	---	A	162868107	T	A	162868107	4	1	31	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	64675767	162868107	18047153	16	2035										
CTGF	1490	broad.mit.edu	37	chr6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gggtggagatgcccatcccaCaggtcttggaacaggcgctc	14	12	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	4	77	---	---	---	---	A	132271204	C	A	132271204	3	1	31	1	0	0	0	0	1	0	0	0	4008	478	17	3	419	3	CTGF	6	132271204	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		132271204	38843863	17	2036										
ABCB5	340273	broad.mit.edu	37	chr7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	agctatggccatcggagaaaCgctcgttttggctcctgaat	11	10	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.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		Somatic				ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	p.T971M	NM_001163941.1	NP_001157413.1	WXS	Illumina GAIIx	Phase_I	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	27	111	---	---	---	---	T	20778650	C	T	20778650	3	4	31	1	0	0	0	0	1	0	0	0	44	536	19	2	3043	2	ABCB5	7	20778650	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		20778650	138360013	18	2037										
ZNF713	349075	broad.mit.edu	37	chr7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gaaattatgtgaatataaatGtgagcaaactgttcgccaca	8	6	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.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		Somatic				MRPS17_ENST00000426595.1_Intron	p.C417F	NM_182633.1	NP_872439.1	WXS	Illumina GAIIx	Phase_I	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	105	86	---	---	---	---	T	56007656	G	T	56007656	3	4	31	1	0	0	0	0	1	0	0	0	18114	1377	48	3	1264	3	ZNF713	7	56007656	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	35229006	56007656	103131007	19	2038										
TRRAP	8295	broad.mit.edu	37	chr7	98508784	98508784	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	aagaggagaaggaggtattgGagcatttcgctggtgtgttc	16	4	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.chr7:98508784G>T	ENST00000359863.4	+	17	2106	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E632*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E633*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	633					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)			GGAGGTATTGGAGCATTTCGC	0.433																																						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.(1897-1899)Gag>Tag		transformation/transcription domain-associated protein							129	115	119					7																	98508784		2203	4300	6503	SO:0001587	stop_gained	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.chr7:98508784G>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.1897G>T	7.37:g.98508784G>T	ENSP00000352925:p.Glu633*		Somatic				TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E633*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E632*	p.E633*	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2106	+	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)		633					A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.1897G>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.192368|9.192368	0.99096|0.99096	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80352	.|0.4607	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77696	.|-0.2491	.|3	0.72032|.	D|.	0.01|.	.|.	20.422|20.422	0.99049|0.99049	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	633;633;631|347	.|.	ENSP00000347733:E633X|.	E|W	+|+	1|3	0|0	TRRAP|TRRAP	98346720|98346720	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.691000|0.691000	0.40173|0.40173	9.687000|9.687000	0.98667|0.98667	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.433	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	177	4	177	---	---	---	---	T	98508784	G	T	98508784	4	4	31	1	0	0	0	0	0	1	0	0	16598	1175	41	3	1959	3	TRRAP	7	98508784	Nonsense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	42501128	98508784	60629879	20	2039										
TRPA1	8989	broad.mit.edu	37	chr8	72963064	72963064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tctgtaattggacatttattGcctggagaattatgactgaa	9	5	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.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	56	108	---	---	---	---	A	72963064	G	A	72963064	2	1	31	1	0	0	0	0	0	0	0	1	16574	1306	46	2		2	TRPA1	8	72963064	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08		72963064	73400958	21	2040										
POU5F1B	5462	broad.mit.edu	37	chr8	128428780	128428780	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	cttcaggagatatgcaaagcAgaaaccctcatgcaggcccg	10	12	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.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			Somatic				POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA	p.A223A			WXS	Illumina GAIIx	Phase_I	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	17	18	---	---	---	---	C	128428780	A	C	128428780	2	2	31	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	22	2041										
SARDH	1757	broad.mit.edu	37	chr9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	taggggcgttacctcgtgcaGcgggtctctcctcatgttgc	13	12	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.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		Somatic				SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M	p.L488M	NM_007101.3	NP_009032.2	WXS	Illumina GAIIx	Phase_I	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	12	76	---	---	---	---	T	136573417	G	T	136573417	3	4	31	1	0	0	0	0	1	0	0	0	13841	962	34	3	1338	3	SARDH	9	136573417	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		136573417	4640014	23	2042										
HIPK3	10114	broad.mit.edu	37	chr11	33373268	33373268	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	acttttgtggaggacactcaTgaaaacacagaattggtatc	9	7	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.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_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			Somatic				HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H	p.H974H	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	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	40	139	---	---	---	---	C	33373268	T	C	33373268	2	2	31	1	0	0	0	0	0	0	0	1	7118	1461	51	2		2	HIPK3	11	33373268	Silent	SNP	T	TCGA-CH-5788-01A-11D-1576-08		33373268	101633248	24	2043										
SP1	6667	broad.mit.edu	37	chr12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gtgtcctaagcgcttcatgaGgagtgaccacctgtcaaaac	10	11	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.chr12:53804756G>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	6667				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		Somatic				SP1_ENST00000327443.4_Missense_Mutation_p.R697K	p.R690K	NM_003109.1	NP_003100.1	WXS	Illumina GAIIx	Phase_I	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	143	195	---	---	---	---	A	53804756	G	A	53804756	3	1	31	1	0	0	0	0	1	0	0	0	14959	1000	35	2	2112	2	SP1	12	53804756	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		53804756	80047139	25	2044										
LRIG3	121227	broad.mit.edu	37	chr12	59283855	59283855	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ctgttcagctttaacacaagGagtgtgttggccaaattgtc	10	8	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.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			Somatic				LRIG3_ENST00000379141.4_Silent_p.L134L	p.L194L	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	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	6	412	---	---	---	---	A	59283855	G	A	59283855	2	1	31	1	0	0	0	0	0	0	0	1	8946	1161	41	2		2	LRIG3	12	59283855	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	5479099	59283855	74568040	26	2045										
C12orf64	283310	broad.mit.edu	37	chr12	80658832	80658832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ccaggagctctttgctccttGccacatctatattagccctg	7	14	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.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		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F	p.C680F	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					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	172	270	---	---	---	---	T	80658832	G	T	80658832	3	4	31	1	0	0	0	0	1	0	0	0	1707	1319	46	3	2113	3	C12orf64	12	80658832	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	21374977	80658832	53193063	27	2046										
TPPP2	122664	broad.mit.edu	37	chr14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ttggagaatcatcaagcagtGgcactgaaatgaacaacaag	10	7	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.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000460647.2_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		Somatic				TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	p.G22S	NM_173846.4	NP_776245.2	WXS	Illumina GAIIx	Phase_I	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	28	36	---	---	---	---	A	21498804	G	A	21498804	3	1	31	1	0	0	0	0	1	0	0	0	16411	1348	47	2	66	2	TPPP2	14	21498804	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		21498804	85850736	28	2047										
SPG11	80208	broad.mit.edu	37	chr15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ggatcatcttcatctacgccCttaggtccttgaataggaag	9	10	4	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.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_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		Somatic				SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N	p.K311N	NM_025137.3	NP_079413.3	WXS	Illumina GAIIx	Phase_I	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	4	181	---	---	---	---	A	44944401	C	A	44944401	3	1	31	1	0	0	0	0	1	0	0	0	15040	680	24	1	6542	1	SPG11	15	44944401	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		44944401	57586991	29	2048										
DPP8	54878	broad.mit.edu	37	chr15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tgccctccttgtttccaacaTaggggatgtaacatgaataa	8	9	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.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V	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		Somatic				DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V	p.M320V	NM_197960.2	NP_932064.1	WXS	Illumina GAIIx	Phase_I	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	20	247	---	---	---	---	C	65780073	T	C	65780073	3	2	31	1	0	0	0	0	1	0	0	0	4732	1406	49	2	1794	2	DPP8	15	65780073	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	20835672	65780073	36751319	30	2049										
MYO9A	4649	broad.mit.edu	37	chr15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tgcctacacagcaagaccctGaaccatcgctgcaacaatat	6	14	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.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	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|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	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		Somatic				MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	p.F1030L	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	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	42	75	---	---	---	---	T	72193592	G	T	72193592	3	4	31	1	0	0	0	0	1	0	0	0	10084	1281	45	3	4636	3	MYO9A	15	72193592	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	6413519	72193592	30337800	31	2050										
FES	2242	broad.mit.edu	37	chr15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	ttcgcaagacctacagcgagCagtggcagcagctgcagcag	13	12	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.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000394302.1_Intron|FES_ENST00000394300.3_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000450438.2_Intron|FES_ENST00000414248.2_Intron	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		Somatic				FES_ENST00000394300.3_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000414248.2_Intron	p.Q119K	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	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	12	17	---	---	---	---	A	91428783	C	A	91428783	3	1	31	1	0	0	0	0	1	0	0	0	5820	711	25	3	361	3	FES	15	91428783	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	19235191	91428783	11102609	32	2051										
ELMO3	1874	broad.mit.edu	37	chr16	67234423	67234423	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gagcacggcgtggtgtcctgGgagactctgagcatcccctt	14	12	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.chr16:67234423G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Nonsense_Mutation_p.W214*|ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000571638.1_3'UTR|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*	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			Somatic				ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|ELMO3_ENST00000571638.1_3'UTR	p.W214*	NM_024712.3	NP_078988.2	WXS	Illumina GAIIx	Phase_I	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	3	68	---	---	---	---	A	67234423	G	A	67234423	1	1	31	0	1	0	0	0	0	0	0	0	5067	1241	43	2		2	ELMO3	16	67234423	IGR	SNP	G	TCGA-CH-5788-01A-11D-1576-08		67234423	23120330	33	2052										
SLC9A5	6553	broad.mit.edu	37	chr16	67305047	67305047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	atgggccacaaggaccacacCcatctcagcccaggcaccgc	9	18	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			Somatic					p.T875T	NM_004594.2	NP_004585.1	WXS	Illumina GAIIx	Phase_I	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	4	31	---	---	---	---	T	67305047	C	T	67305047	2	4	31	1	0	0	0	0	0	0	0	1	14717	610	22	2		2	SLC9A5	16	67305047	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	70624	67305047	23049706	34	2053										
DHRS13	147015	broad.mit.edu	37	chr17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gcccagcagcaaccccgcgcCcagcagcagcgcctccatgc	10	21	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.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000394901.3_5'UTR|DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S	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		Somatic				DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	p.G7S	NM_144683.3	NP_653284.2	WXS	Illumina GAIIx	Phase_I	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	5	12	---	---	---	---	T	27229944	C	T	27229944	3	4	31	1	0	0	0	0	1	0	0	0	4489	623	22	2	1134	2	DHRS13	17	27229944	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		27229944	53965266	35	2054										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	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.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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_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	WXS	Illumina GAIIx	Phase_I	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	139	222	---	---	---	---	C	47696432	A	C	47696432	3	2	31	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	36	2055										
SFRS1	6426	broad.mit.edu	37	chr17	56083187	56083187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gagatctaaacttagtgttaTccagttttcgaactgcatag	8	7	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.chr17:56083187T>C	ENST00000258962.4	-	3	735	c.527A>G	c.(526-528)gAt>gGt	p.D176G	SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.D176G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|RP11-159D12.5_ENST00000578794.1_5'Flank	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		Somatic				SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron	p.D176G	NM_001078166.1	NP_001071634.1	WXS	Illumina GAIIx	Phase_I	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	85	117	---	---	---	---	C	56083187	T	C	56083187	3	2	31	1	0	0	0	0	1	0	0	0	14165	1435	50	2	281	2	SFRS1	17	56083187	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	8386755	56083187	25112023	37	2056										
OR10H3	26532	broad.mit.edu	37	chr19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tgtgtgccctctccatctctGagattctgttcactgttgcc	8	13	4	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.chr19:15852413G>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		Somatic					p.E71K	NM_013938.1	NP_039226.1	WXS	Illumina GAIIx	Phase_I	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	21	764	---	---	---	---	A	15852413	G	A	15852413	3	1	31	1	0	0	0	0	1	0	0	0	10907	1291	45	2	213	2	OR10H3	19	15852413	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		15852413	43276570	38	2057										
FCGBP	8857	broad.mit.edu	37	chr19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	agtcataagtgacagtcaggCcaaagtccgtgcgcacgacg	12	11	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		Somatic					p.G976D	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	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	37	60	---	---	---	---	T	40420067	C	T	40420067	3	4	31	1	0	0	0	0	1	0	0	0	5778	739	26	2	13414	2	FCGBP	19	40420067	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	24567654	40420067	18708916	39	2058										
ERCC2	2068	broad.mit.edu	37	chr19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	gaaggccacgatgccatcagGgaccacagcggacatctcca	11	14	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.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		Somatic				ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	p.P532S	NM_000400.3	NP_000391.1	WXS	Illumina GAIIx	Phase_I	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	67	145	---	---	---	---	A	45858059	G	A	45858059	3	1	31	1	0	0	0	0	1	0	0	0	5213	1232	43	2	716	2	ERCC2	19	45858059	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	5437992	45858059	13270924	40	2059										
CRNKL1	51340	broad.mit.edu	37	chr20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tcgtccaaaggatatatcgcTcataaatggtgcgggcccga	11	10	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.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	103	---	---	---	---	C	20028414	T	C	20028414	3	2	31	1	0	0	0	0	1	0	0	0	3891	1551	54	2	1486	2	CRNKL1	20	20028414	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08		20028414	42997106	41	2060										
CACNG2	10369	broad.mit.edu	37	chr22	36960764	36960764	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	cgcagctgtttgtgccggtcGataaacatgtgcaccgccag	12	12	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.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			Somatic					p.I202I	NM_006078.3	NP_006069.1	WXS	Illumina GAIIx	Phase_I	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	142	194	---	---	---	---	A	36960764	G	A	36960764	2	1	31	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	42	2061										
KLHL13	90293	broad.mit.edu	37	chrX	117043609	117043609	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.116279069767442	5	1	1.60232383808096	2.94827586206897	1.22844827586207	1	1	0	tcctcctagtgtaaccaagtGagtggtgtcagacctaatgg	11	9	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.chrX:117043609G>T	ENST00000262820.3	-	5	1930	c.1021C>A	c.(1021-1023)Cac>Aac	p.H341N	KLHL13_ENST00000469946.1_Missense_Mutation_p.H290N|KLHL13_ENST00000371876.1_Missense_Mutation_p.H290N|KLHL13_ENST00000539496.1_Missense_Mutation_p.H344N|KLHL13_ENST00000540167.1_Missense_Mutation_p.H325N|KLHL13_ENST00000371878.1_Missense_Mutation_p.H290N|KLHL13_ENST00000541812.1_Missense_Mutation_p.H325N|KLHL13_ENST00000545703.1_Missense_Mutation_p.H299N|KLHL13_ENST00000371882.1_Missense_Mutation_p.H290N	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	341					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.H341N(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						GTAACCAAGTGAGTGGTGTCA	0.473																																						ENST00000371876.1																			1	Substitution - Missense(1)	p.H341N(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.(868-870)Cac>Aac		kelch-like family member 13							115	97	103					X																	117043609		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043609G>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.1021C>A	X.37:g.117043609G>T	ENSP00000262820:p.His341Asn		Somatic				KLHL13_ENST00000371878.1_Missense_Mutation_p.H290N|KLHL13_ENST00000541812.1_Missense_Mutation_p.H325N|KLHL13_ENST00000469946.1_Missense_Mutation_p.H290N|KLHL13_ENST00000545703.1_Missense_Mutation_p.H299N|KLHL13_ENST00000540167.1_Missense_Mutation_p.H325N|KLHL13_ENST00000262820.3_Missense_Mutation_p.H341N|KLHL13_ENST00000371882.1_Missense_Mutation_p.H290N|KLHL13_ENST00000539496.1_Missense_Mutation_p.H344N	p.H290N			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			4	3289	-			341			BACK.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.868C>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549411	0.45383	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	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	4.88	4.88	0.63580	Galactose oxidase, beta-propeller (1);	0.050819	0.85682	D	0.000000	T	0.71813	0.3384	M	0.61703	1.905	0.53688	D	0.999974	P;D;P;P	0.53885	0.752;0.963;0.894;0.901	P;P;P;P	0.56434	0.583;0.798;0.681;0.482	T	0.69636	-0.5092	10	0.27785	T	0.31	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	325;344;335;341	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	N	290;290;290;290;325;325;344;341;299;290	ENSP00000360949:H290N;ENSP00000360943:H290N;ENSP00000360945:H290N;ENSP00000412640:H290N;ENSP00000444450:H325N;ENSP00000441029:H325N;ENSP00000443191:H344N;ENSP00000262820:H341N;ENSP00000440707:H299N;ENSP00000419803:H290N	ENSP00000262820:H341N	H	-	1	0	KLHL13	116927637	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	CAC		0.473	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		5	150	5	150	---	---	---	---	T	117043609	G	T	117043609	3	4	31	1	0	0	0	0	1	0	0	0	8369	1290	45	3	958	3	KLHL13	23	117043609	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		117043609	38226951	43	2062										
NLRC4	58484	broad.mit.edu	37	chr2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	agtcaaataagtaatcggggAtgttccctgagttgatatat	10	5	1	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.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|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		Somatic				NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N|NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron	p.I591N			WXS	Illumina GAIIx	Phase_I	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	6	245	---	---	---	---	T	32475161	A	T	32475161	3	4	32	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	1	2063										
THNSL2	55258	broad.mit.edu	37	chr2	88478453	88478453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	cacttctttgcttacttccaGtgtacgccatccttggacac	6	14	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.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.Q241Q|THNSL2_ENST00000358591.2_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			Somatic				THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q|THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q	p.Q241Q	NM_018271.4	NP_060741.3	WXS	Illumina GAIIx	Phase_I	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	10	447	---	---	---	---	A	88478453	G	A	88478453	2	1	32	1	0	0	0	0	0	0	0	1	15860	1020	36	2		2	THNSL2	2	88478453	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08	56003292	88478453	154720920	2	2064										
CP	1356	broad.mit.edu	37	chr3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	ctgatcaggtgcagttgtaaAcattctaatattatcttcca	6	8	3	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.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		Somatic				CP_ENST00000462336.1_5'UTR	p.F600V	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	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	6	261	---	---	---	---	C	148905905	A	C	148905905	3	2	32	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	3	2065										
ADCY1	107	broad.mit.edu	37	chr7	45744119	45744119	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	tttatgttttaaacaaagctCatggaaaaagacttttacaa	5	5	1	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.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			Somatic					p.L907L	NM_021116.2	NP_066939.1	WXS	Illumina GAIIx	Phase_I	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	6	134	---	---	---	---	A	45744119	C	A	45744119	2	1	32	1	0	0	0	0	0	0	0	1	292	813	29	3		3	ADCY1	7	45744119	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		45744119	113394544	4	2066										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-													0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	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)aaafs		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		Somatic					p.K393fs	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	32	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	67775849	113519968	45618695	5	2067										
FAM75C1	441452	broad.mit.edu	37	chr9	90535290	90535290	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	tctcatgagcctatggaagaTgctgctcccattgtctcccc	8	14	2	2	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			441452							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			Somatic								WXS	Illumina GAIIx	Phase_I					0	1194	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	302	5	302	---	---	---	---	C	90535290	T	C	90535290	1	2	32	0	1	0	0	0	0	0	0	0	5623	1461	51	2		2	FAM75C1	9	90535290	RNA	SNP	T	TCGA-CH-5789-01A-11D-1576-08		90535290	50678141	6	2068										
CPSF2	53981	broad.mit.edu	37	chr14	92608697	92608697	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	ggagttttctaagtcccaggTttgttctcatgttgtcactt	9	8	3	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.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			Somatic						NM_017437.2	NP_059133.1	WXS	Illumina GAIIx	Phase_I	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	5	286	---	---	---	---	C	92608697	T	C	92608697	5	2	32	1	0	0	0	0	0	0	1	0	3825	1739	60	2	873	2	CPSF2	14	92608697	Splice_Site	SNP	T	TCGA-CH-5789-01A-11D-1576-08		92608697	14740843	7	2069										
CSPG4	1464	broad.mit.edu	37	chr15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	gggccacatggaagatccggCtgatggtctgcacaggggcg	17	10	1	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.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		Somatic					p.S1024I	NM_001897.4	NP_001888.2	WXS	Illumina GAIIx	Phase_I	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	4	118	---	---	---	---	A	75980335	C	A	75980335	3	1	32	1	0	0	0	0	1	0	0	0	3960	797	28	3	3929	3	CSPG4	15	75980335	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		75980335	26551057	8	2070										
MUC16	94025	broad.mit.edu	37	chr19	9075833	9075833	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	cttggggttgatttttctttCtcattccaggagtcagatgt	10	7	3	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.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			Somatic					p.E3871E	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	8	100	---	---	---	---	T	9075833	C	T	9075833	2	4	32	1	0	0	0	0	0	0	0	1	9973	912	32	2		2	MUC16	19	9075833	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		9075833	50053150	9	2071										
PBX4	80714	broad.mit.edu	37	chr19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	tccctgggaccccaacttccGtggtatccacagccgtttta	8	15	0	0	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																																						ENST00000251203.9																			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		Somatic					p.T291M	NM_025245.2	NP_079521.1	WXS	Illumina GAIIx	Phase_I	Q9BYU1	PBX4_HUMAN			6	1158	-								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	9	377	---	---	---	---	A	19675795	G	A	19675795	3	1	32	1	0	0	0	0	1	0	0	0	11495	1145	40	2	264	2	PBX4	19	19675795	Missense_Mutation	SNP	G	TCGA-CH-5789-01A-11D-1576-08	10599962	19675795	39453188	10	2072										
NSFL1C	55968	broad.mit.edu	37	chr20	1433675	1433675	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	caggagggctttttcactcaCcctctgcggatagactccag	10	13	3	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.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000350991.4_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			Somatic				NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site		NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	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	7	354	---	---	---	---	T	1433675	C	T	1433675	5	4	32	1	0	0	0	0	0	0	1	0	10672	521	18	2	480	2	NSFL1C	20	1433675	Splice_Site	SNP	C	TCGA-CH-5789-01A-11D-1576-08		1433675	61591845	11	2073										
XRCC6	2547	broad.mit.edu	37	chr22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.23030303030303	NA	1.23030303030303	1	1	0	tgtgttttgattttctagtgCccaaggttgaagcaatgaat	10	5	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.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S			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		Somatic				XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S	p.P509S			WXS	Illumina GAIIx	Phase_I	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	7	250	---	---	---	---	T	42057337	C	T	42057337	3	4	32	1	0	0	0	0	1	0	0	0	17454	739	26	2	1567	2	XRCC6	22	42057337	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		42057337	9247229	12	2074										
PLCH2	9651	broad.mit.edu	37	chr1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	tgcaggaagcggacacggatGaccaccaagggacgctgggt	16	10	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.chr1:2415902G>A	ENST00000419816.2	+	5	935	c.661G>A	c.(661-663)Gac>Aac	p.D221N	PLCH2_ENST00000449969.1_Missense_Mutation_p.D194N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N			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		Somatic				PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N	p.D194N			WXS	Illumina GAIIx	Phase_I	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	20	32	---	---	---	---	A	2415902	G	A	2415902	3	1	33	1	0	0	0	0	1	0	0	0	12038	1290	45	2	679	2	PLCH2	1	2415902	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		2415902	246834719	1	2075										
AKNAD1	254268	broad.mit.edu	37	chr1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	tccgtggccctttttctccaCgttttgcttcctaaaaaaag	6	12	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.chr1:109369914C>T	ENST00000370001.3	-	11	2117	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M|AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M	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		Somatic				AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M	p.V617M	NM_152763.4	NP_689976.2	WXS	Illumina GAIIx	Phase_I	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	21	230	---	---	---	---	T	109369914	C	T	109369914	3	4	33	1	0	0	0	0	1	0	0	0	464	536	19	2	685	2	AKNAD1	1	109369914	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	106954012	109369914	139880707	2	2076										
FCGR1A	2209	broad.mit.edu	37	chr1	149760144	149760144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	catgggaaagcatcgctacaCatcagcaggaatatctgtca	9	10	3	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.chr1:149760144C>T	ENST00000369168.4	+	4	584	c.530C>T	c.(529-531)aCa>aTa	p.T177I	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	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		Somatic				RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	p.T177I	NM_000566.3	NP_000557.1	WXS	Illumina GAIIx	Phase_I	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	5	198	---	---	---	---	T	149760144	C	T	149760144	3	4	33	1	0	0	0	0	1	0	0	0	5779	478	17	2	544	2	FCGR1A	1	149760144	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	40390230	149760144	99490477	3	2077										
TMEM214	54867	broad.mit.edu	37	chr2	27258872	27258872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ggttaccgcatctgtatccaGgccatcctgcaagacaagcc	9	14	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.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			Somatic				TMEM214_ENST00000404032.3_Silent_p.Q179Q	p.Q224Q	NM_017727.4	NP_060197.4	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	A	27258872	G	A	27258872	2	1	33	1	0	0	0	0	0	0	0	1	16134	991	35	2		2	TMEM214	2	27258872	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08		27258872	215940501	4	2078										
IRAK2	3656	broad.mit.edu	37	chr3	10251301	10251301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ccagccagagcccaccagccGgcctttctccagcctcctga	8	20	1	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.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			Somatic					p.P151P	NM_001570.3	NP_001561.3	WXS	Illumina GAIIx	Phase_I	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	7	275	---	---	---	---	A	10251301	G	A	10251301	2	1	33	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	2079										
DMXL1	1657	broad.mit.edu	37	chr5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	atgtggcatggctgcccactCttatacccagttattgtctg	9	11	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.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		Somatic				DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	p.L745V	NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	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	8	242	---	---	---	---	G	118469852	C	G	118469852	3	3	33	1	0	0	0	0	1	0	0	0	4594	913	32	4	2279	4	DMXL1	5	118469852	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		118469852	62445408	6	2080										
HSPA9	3313	broad.mit.edu	37	chr5	137893676	137893676	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ggggctggtggaattccaatCtaaaataaataatatccaga	9	6	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.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			Somatic				HSPA9_ENST00000501917.2_Intron		NM_004134.6	NP_004125.3	WXS	Illumina GAIIx	Phase_I	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	4	110	---	---	---	---	A	137893676	C	A	137893676	5	1	33	1	0	0	0	0	0	0	1	0	7417	927	32	3	544	3	HSPA9	5	137893676	Splice_Site	SNP	C	TCGA-CH-5790-01A-11D-1576-08	19423824	137893676	43021584	7	2081										
KIFC2	90990	broad.mit.edu	37	chr8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	cagcggctggagcagctcatCctgggacaggtgaggtccct	15	12	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.chr8:145693004C>G	ENST00000301332.2	+	5	983	c.606C>G	c.(604-606)atC>atG	p.I202M	CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301331.5_5'UTR	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	61	---	---	---	---	G	145693004	C	G	145693004	3	3	33	1	0	0	0	0	1	0	0	0	8313	845	30	4	624	4	KIFC2	8	145693004	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		145693004	671018	8	2082										
KIF5B	3799	broad.mit.edu	37	chr10	32337438	32337438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ttatacacttgctcttgagaTgtgcttgactggaacacccg	9	10	1	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.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			Somatic					p.T56T	NM_004521.2	NP_004512.1	WXS	Illumina GAIIx	Phase_I	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	5	134	---	---	---	---	C	32337438	T	C	32337438	2	2	33	1	0	0	0	0	0	0	0	1	8306	1451	51	2		2	KIF5B	10	32337438	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08		32337438	103197309	9	2083										
NAV2	89797	broad.mit.edu	37	chr11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	caacacttccgaaacaccggAgctgcttccttgtggctatc	8	14	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.chr11:20119232A>G	ENST00000396087.3	+	34	6398	c.6299A>G	c.(6298-6300)gAg>gGg	p.E2100G	NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000396085.1_Missense_Mutation_p.E2044G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|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		Somatic				NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G	p.E2044G	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	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	8	135	---	---	---	---	G	20119232	A	G	20119232	3	3	33	1	0	0	0	0	1	0	0	0	10184	304	11	2	6362	2	NAV2	11	20119232	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08		20119232	114887284	10	2084										
GNB3	2784	broad.mit.edu	37	chr12	6950751	6950751	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	atgtctgctttccctgcaggAtgccaggaaagcctgtgctg	12	11	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.chr12:6950751A>G	ENST00000229264.3	+	4	464	c.59A>G	c.(58-60)gAt>gGt	p.D20G	GNB3_ENST00000435982.2_Splice_Site_p.D20G|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_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.(58-60)gAt>gGt		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			Somatic				GNB3_ENST00000435982.2_Splice_Site_p.D20G	p.D20G	NM_002075.2	NP_002066.1	WXS	Illumina GAIIx	Phase_I	P16520	GBB3_HUMAN			4	464	+			20					Q96B71|Q9BQC0	Splice_Site	SNP	ENST00000229264.3	37	c.59A>G	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	12	28	---	---	---	---	G	6950751	A	G	6950751	5	3	33	1	0	0	0	0	0	0	1	0	6519	347	12	2	65	2	GNB3	12	6950751	Splice_Site	SNP	A	TCGA-CH-5790-01A-11D-1576-08		6950751	126901144	11	2085										
PCK2	5106	broad.mit.edu	37	chr14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	acagtgcccgagagacacccAttgggctggtgccaaaggaa	13	11	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.chr14:24572967A>G	ENST00000216780.4	+	10	1985	c.1717A>G	c.(1717-1719)Att>Gtt	p.I573V	PCK2_ENST00000545054.2_Missense_Mutation_p.I439V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000559250.1_Intron|NRL_ENST00000561028.1_Intron	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		Somatic				NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000558096.1_Missense_Mutation_p.I407V	p.I439V			WXS	Illumina GAIIx	Phase_I	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	41	65	---	---	---	---	G	24572967	A	G	24572967	3	3	33	1	0	0	0	0	1	0	0	0	11582	217	8	2	1847	2	PCK2	14	24572967	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08		24572967	82776573	12	2086										
MLH3	27030	broad.mit.edu	37	chr14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	tagtcccagcgcttgctctaGtcacatcagcttcacaagct	7	14	4	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.chr14:75515946G>C	ENST00000556740.1	-	1	448	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.T138S|MLH3_ENST00000238662.7_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		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S	p.T138S	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	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	10	186	---	---	---	---	C	75515946	G	C	75515946	3	2	33	1	0	0	0	0	1	0	0	0	9618	1029	36	4	3996	4	MLH3	14	75515946	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	50942979	75515946	31833594	13	2087										
ASB2	51676	broad.mit.edu	37	chr14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	tcagagcccagccctcacctCgctgcaggactttcaggcag	10	16	3	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_ENST00000555019.1_Missense_Mutation_p.R159Q|ASB2_ENST00000556337.1_Intron	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		Somatic				ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q	p.R159Q	NM_001202429.1	NP_001189358.1	WXS	Illumina GAIIx	Phase_I	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	4	76	---	---	---	---	T	94420665	C	T	94420665	3	4	33	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	14	2088										
ALDH1A2	8854	broad.mit.edu	37	chr15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ctgcaagaactgccctgtccCgttccaccaagtctgcaagc	8	16	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.chr15:58306075C>G	ENST00000249750.4	-	3	1111	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P|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		Somatic				ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P	p.R115P	NM_003888.3	NP_003879.2	WXS	Illumina GAIIx	Phase_I	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	19	532	---	---	---	---	G	58306075	C	G	58306075	3	3	33	1	0	0	0	0	1	0	0	0	491	652	23	4	1256	4	ALDH1A2	15	58306075	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		58306075	44225317	15	2089										
IRF8	3394	broad.mit.edu	37	chr16	85936702	85936702	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	agcatgtatccaggactgatTtgggagaatgaggagaagag	15	4	0	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.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			Somatic				IRF8_ENST00000563180.1_Silent_p.I27I	p.I27I	NM_002163.2	NP_002154.1	WXS	Illumina GAIIx	Phase_I	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	3	74	---	---	---	---	C	85936702	T	C	85936702	2	2	33	1	0	0	0	0	0	0	0	1	7836	1829	64	2		2	IRF8	16	85936702	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08		85936702	4418051	16	2090										
PTPRM	5797	broad.mit.edu	37	chr18	8113637	8113637	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	gaatttcctgcagacagcctCcaagctgcgcagccttttac	8	14	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.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_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000400060.4_Silent_p.L670L	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			Somatic				PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000444013.1_Silent_p.L457L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000580170.1_Silent_p.L670L	p.L670L	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	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	93	114	---	---	---	---	A	8113637	C	A	8113637	2	1	33	1	0	0	0	0	0	0	0	1	12806	842	30	3		3	PTPRM	18	8113637	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08		8113637	69963611	17	2091										
CEACAM6	4680	broad.mit.edu	37	chr19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ctccctgcagattgcatgtcCcctggaaggaggtcctgctc	11	14	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.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		Somatic				CEA_ENST00000598976.1_Intron	p.P14T	NM_002483.4	NP_002474.3	WXS	Illumina GAIIx	Phase_I	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	5	97	---	---	---	---	A	42259586	C	A	42259586	3	1	33	1	0	0	0	0	1	0	0	0	3196	623	22	1	42	1	CEACAM6	19	42259586	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		42259586	16869397	18	2092										
MAPRE1	22919	broad.mit.edu	37	chr20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	agctccccagaggcccatctCaacacagagaaccgctgcgg	10	16	1	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.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*		Somatic					p.S165*	NM_012325.2	NP_036457.1	WXS	Illumina GAIIx	Phase_I	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	12	457	---	---	---	---	G	31427559	C	G	31427559	4	3	33	1	0	0	0	0	0	1	0	0	9294	838	29	4	508	4	MAPRE1	20	31427559	Nonsense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		31427559	31597961	19	2093										
HDAC8	55869	broad.mit.edu	37	chrX	71787745	71787745	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.42391304347826	3.23188405797101	1.61594202898551	1	1	0	ggtcattttcttacttctttGcatgatgccaccctccagac	6	13	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.chrX:71787745G>C	ENST00000373573.3	-	4	772	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373561.4_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		Somatic				HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron	p.A144G	NM_001166419.1	NP_001159891.1	WXS	Illumina GAIIx	Phase_I	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	11	122	---	---	---	---	C	71787745	G	C	71787745	3	2	33	1	0	0	0	0	1	0	0	0	7013	1319	46	4	820	4	HDAC8	23	71787745	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		71787745	83482815	20	2094										
LCE5A	254910	broad.mit.edu	37	chr1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cagcagtctgggggctccagCtgctgccacagctctggggg	16	13	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.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		Somatic					p.S100R	NM_178438.4	NP_848525.1	WXS	Illumina GAIIx	Phase_I	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	4	9	---	---	---	---	G	152484310	C	G	152484310	3	3	34	1	0	0	0	0	1	0	0	0	8675	796	28	4	302	4	LCE5A	1	152484310	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		152484310	96766311	1	2095										
GALNT2	2590	broad.mit.edu	37	chr1	230338965	230338965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gggcaggacccttacgcccgCaacaagttcaaccaggtgga	12	13	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.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			Somatic				GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	p.R101R	NM_004481.3	NP_004472.1	WXS	Illumina GAIIx	Phase_I	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	6	224	---	---	---	---	T	230338965	C	T	230338965	2	4	34	1	0	0	0	0	0	0	0	1	6213	697	25	2		2	GALNT2	1	230338965	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	77854655	230338965	18911656	2	2096										
CEBPZ	10153	broad.mit.edu	37	chr2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tactttcttcatctgcatccCgtttttgtttctctttaaca	3	11	4	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.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		Somatic				AC007390.5_ENST00000438935.2_Intron	p.R829Q	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	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	9	42	---	---	---	---	T	37441066	C	T	37441066	3	4	34	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		37441066	205758307	3	2097										
RAPH1	65059	broad.mit.edu	37	chr2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	acacacacccttgttggagaActccaggaaggttgactcca	9	12	0	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.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	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		Somatic				RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	p.V1040A	NM_213589.1	NP_998754.1	WXS	Illumina GAIIx	Phase_I	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	53	100	---	---	---	---	G	204304794	A	G	204304794	3	3	34	1	0	0	0	0	1	0	0	0	13050	43	2	2	637	2	RAPH1	2	204304794	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	166863728	204304794	38894579	4	2098										
COL4A3	1285	broad.mit.edu	37	chr2	228155518	228155518	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ggtcgagcaggaagaccaggCctcccaggtattcatggtct	13	11	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.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	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)	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			Somatic				AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.G1042G	NM_000091.4	NP_000082.2	WXS	Illumina GAIIx	Phase_I	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	3	61	---	---	---	---	A	228155518	C	A	228155518	2	1	34	1	0	0	0	0	0	0	0	1	3691	726	26	3		3	COL4A3	2	228155518	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	23850724	228155518	15043855	5	2099										
PID1	55022	broad.mit.edu	37	chr2	229890759	229890759	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ttcttccagagctcaatgacTggcttttctgtgcagcctga	9	11	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.chr2:229890759T>A	ENST00000354069.6	-	3	372	c.342A>T	c.(340-342)ccA>ccT	p.P114P	PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.P112P|PID1_ENST00000409462.1_Silent_p.P32P			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			Somatic				PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron	p.P112P	NM_017933.4	NP_060403.3	WXS	Illumina GAIIx	Phase_I	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	10	88	---	---	---	---	A	229890759	T	A	229890759	2	1	34	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	6	2100										
KLHL18	23276	broad.mit.edu	37	chr3	47376266	47376266	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cggccacgctgctgcacatcCatcgctggacttatctacgc	9	16	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.chr3:47376266C>A	ENST00000232766.5	+	6	875	c.855C>A	c.(853-855)tcC>tcA	p.S285S	KLHL18_ENST00000455924.2_Silent_p.S173S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	285								p.S285S(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)		GCTGCACATCCATCGCTGGAC	0.582																																						ENST00000232766.5																			1	Substitution - coding silent(1)	p.S285S(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(853-855)tcC>tcA		kelch-like family member 18							50	47	48					3																	47376266		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47376266C>A	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.855C>A	3.37:g.47376266C>A			Somatic				KLHL18_ENST00000455924.2_Silent_p.S173S	p.S285S	NM_025010.4	NP_079286.2	WXS	Illumina GAIIx	Phase_I	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	6	875	+		Acute lymphoblastic leukemia(5;0.164)	285					A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.855C>A	CCDS33749.1																																																																																				0.582	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		3	54	3	54	---	---	---	---	A	47376266	C	A	47376266	2	1	34	1	0	0	0	0	0	0	0	1	8373	581	21	1		1	KLHL18	3	47376266	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		47376266	150646164	7	2101										
FILIP1L	11259	broad.mit.edu	37	chr3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ttttttgcaggactgagtgaTctccctggaggtgacatatt	11	7	1	3	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	FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000331335.5_Missense_Mutation_p.D742A|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|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		Somatic				FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A	p.D742A	NM_001042459.1	NP_001035924.1	WXS	Illumina GAIIx	Phase_I	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	10	393	---	---	---	---	G	99568295	T	G	99568295	3	3	34	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	52192029	99568295	98454135	8	2102										
BCL6	604	broad.mit.edu	37	chr3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tggacaggccactgtacaggCtgggggcaaaggctctgctc	15	11	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.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_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_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		Somatic				BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron	p.S183N	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	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	30	38	---	---	---	---	T	187447645	C	T	187447645	3	4	34	1	0	0	0	0	1	0	0	0	1376	797	28	2	1596	2	BCL6	3	187447645	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	87879350	187447645	10574785	9	2103										
PCDHGB3	56102	broad.mit.edu	37	chr5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-													0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	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	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_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	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)aaggtggtggcgfs																																						SO:0001589	frameshift_variant	56102							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		Somatic				PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.KVVA590fs	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	WXS	Illumina GAIIx	Phase_I			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	34	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	10	2104										
PLG	5340	broad.mit.edu	37	chr6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gggaacaggtgaaaactatcGcgggaatgtggctgttaccg	15	7	0	1	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		Somatic					p.R284H	NM_000301.3	NP_000292.1	WXS	Illumina GAIIx	Phase_I	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	40	170	---	---	---	---	A	161139389	G	A	161139389	3	1	34	1	0	0	0	0	1	0	0	0	12086	1087	38	2	885	2	PLG	6	161139389	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		161139389	9975678	11	2105										
INHBA	3624	broad.mit.edu	37	chr7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tcatttctgccctccttccaAtgtcatcctctatctccaca	2	17	5	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.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_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)	Somatic				INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	p.I107N	NM_002192.2	NP_002183.1	WXS	Illumina GAIIx	Phase_I	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	19	758	---	---	---	---	T	41739653	A	T	41739653	3	4	34	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	12	2106										
ZKSCAN5	23660	broad.mit.edu	37	chr7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cgccacagaagcctcgtctcCtggaggaaaatggtgaggct	13	11	1	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.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		Somatic				ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V	p.L181V	NM_014569.3	NP_055384.1	WXS	Illumina GAIIx	Phase_I	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	20	35	---	---	---	---	G	99110202	C	G	99110202	3	3	34	1	0	0	0	0	1	0	0	0	17687	680	24	4	547	4	ZKSCAN5	7	99110202	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	57370549	99110202	60028461	13	2107										
SSPO	23145	broad.mit.edu	37	chr7	149526028	149526028	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	actctctccctctgcagggcGaggagatggtgctggagcca	14	12	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	8	6	---	---	---	---	A	149526028	G	A	149526028	1	1	34	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	14	2108										
FANCG	2189	broad.mit.edu	37	chr9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cacctccccgtctgtaggcaCctgcttgctagtatgtgctt	9	14	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.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		Somatic				FANCG_ENST00000476212.1_Intron	p.R353S	NM_004629.1	NP_004620.1	WXS	Illumina GAIIx	Phase_I	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	9	105	---	---	---	---	A	35076446	C	A	35076446	3	1	34	1	0	0	0	0	1	0	0	0	5668	506	18	3	837	3	FANCG	9	35076446	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		35076446	106136985	15	2109										
SMC2	10592	broad.mit.edu	37	chr9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	agcttaaaattaaggaattaGaccacaacatcagcaaacat	5	8	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.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000303219.8_Missense_Mutation_p.D914N|SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_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		Somatic				SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N	p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	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	53	82	---	---	---	---	A	106889711	G	A	106889711	3	1	34	1	0	0	0	0	1	0	0	0	14783	942	33	2	2814	2	SMC2	9	106889711	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	71813265	106889711	34323720	16	2110										
UBAC1	10422	broad.mit.edu	37	chr9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tgaagggccttggtggctctGttctccggaaagcccatctc	12	12	3	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.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		Somatic					p.N208K	NM_016172.2	NP_057256.2	WXS	Illumina GAIIx	Phase_I	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	14	46	---	---	---	---	C	138837764	G	C	138837764	3	2	34	1	0	0	0	0	1	0	0	0	16831	1368	48	4	613	4	UBAC1	9	138837764	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	31948053	138837764	2375667	17	2111										
PTEN	5728	broad.mit.edu	37	chr10	89690802	89690802	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	acttttaaacttttcttttaGttgtgctgaaagacattatg	6	5	1	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.chr10:89690802G>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)	Somatic						NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	32	23	---	---	---	---	A	89690802	G	A	89690802	5	1	34	1	0	0	0	0	0	0	1	0	12738	1043	36	2	223	2	PTEN	10	89690802	Splice_Site	SNP	G	TCGA-CH-5791-01A-11D-1576-08		89690802	45843945	18	2112										
CRTAC1	55118	broad.mit.edu	37	chr10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	caactcacccatgcaatggcCattttcctgctgggagaatc	8	13	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.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C|CRTAC1_ENST00000298819.4_Intron	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		Somatic				CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C	p.G555C	NM_018058.6	NP_060528.3	WXS	Illumina GAIIx	Phase_I	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	17	33	---	---	---	---	A	99642555	C	A	99642555	3	1	34	1	0	0	0	0	1	0	0	0	3896	594	21	1	334	1	CRTAC1	10	99642555	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	9951753	99642555	35892192	19	2113										
ENTPD7	57089	broad.mit.edu	37	chr10	101455823	101455823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tttctgggtttcggaggcaaCtttgcccggcagcgctacga	13	11	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.chr10:101455823C>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			Somatic					p.N318N	NM_020354.3	NP_065087.1	WXS	Illumina GAIIx	Phase_I	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	11	169	---	---	---	---	T	101455823	C	T	101455823	2	4	34	1	0	0	0	0	0	0	0	1	5144	564	20	2		2	ENTPD7	10	101455823	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	1813268	101455823	34078924	20	2114										
NAV2	89797	broad.mit.edu	37	chr11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gaaacggcactgcccagtctGcagacctccgcatccgcagg	11	16	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.chr11:20101630G>T	ENST00000396087.3	+	27	5467	c.5368G>T	c.(5368-5370)Gca>Tca	p.A1790S	NAV2_ENST00000396085.1_Missense_Mutation_p.A1734S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S	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		Somatic				NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S	p.A1734S	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	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	13	39	---	---	---	---	T	20101630	G	T	20101630	3	4	34	1	0	0	0	0	1	0	0	0	10184	1319	46	3	5407	3	NAV2	11	20101630	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		20101630	114904886	21	2115										
TCN1	6947	broad.mit.edu	37	chr11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ggcttggaataaaagaaaacAgtaagagccccactaggggc	12	8	0	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.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		Somatic				TCN1_ENST00000532419.1_5'UTR	p.L14P	NM_001062.3	NP_001053.2	WXS	Illumina GAIIx	Phase_I	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	49	109	---	---	---	---	G	59633903	A	G	59633903	3	3	34	1	0	0	0	0	1	0	0	0	15703	188	7	2	1296	2	TCN1	11	59633903	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	39532273	59633903	75372613	22	2116										
EML3	256364	broad.mit.edu	37	chr11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ttcagattgggtcccgctagGctcttcgctggccccctgag	12	14	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.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S|EML3_ENST00000278845.4_Missense_Mutation_p.P117S|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		Somatic				EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S	p.P116S	NM_153265.2	NP_694997.2	WXS	Illumina GAIIx	Phase_I	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	4	30	---	---	---	---	A	62378665	G	A	62378665	3	1	34	1	0	0	0	0	1	0	0	0	5098	1203	42	2	2424	2	EML3	11	62378665	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	2744762	62378665	72627851	23	2117										
MAML2	84441	broad.mit.edu	37	chr11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	agcatcactgtttagggcagGgcccatgttatcattttgtt	10	8	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.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		Somatic					p.P1120S	NM_032427.1	NP_115803.1	WXS	Illumina GAIIx	Phase_I	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	27	133	---	---	---	---	A	95712225	G	A	95712225	3	1	34	1	0	0	0	0	1	0	0	0	9206	1232	43	2	116	2	MAML2	11	95712225	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	33333560	95712225	39294291	24	2118										
SIDT2	51092	broad.mit.edu	37	chr11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tgtcgttctgcagacagaggGcgtgcgtgtgtctgtgaacg	16	8	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	C	117052139	G	C	117052139	3	2	34	1	0	0	0	0	1	0	0	0	14303	1203	42	4	197	4	SIDT2	11	117052139	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	21339914	117052139	17954377	25	2119										
CCDC15	80071	broad.mit.edu	37	chr11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	ggaatattctacccaaatgtCaggaccaggattttctaccc	7	11	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.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*		Somatic				CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*	p.Q558*			WXS	Illumina GAIIx	Phase_I	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	16	481	---	---	---	---	T	124857794	C	T	124857794	4	4	34	1	0	0	0	0	0	1	0	0	2784	827	29	2	1698	2	CCDC15	11	124857794	Nonsense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	7805655	124857794	10148722	26	2120										
FGFR1OP2	26127	broad.mit.edu	37	chr12	27107226	27107226	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cgagtagaagccatgaaacaGgtttgatttttctttcttgt	9	6	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.chr12:27107226G>T	ENST00000229395.3	+	2	477	c.135G>T	c.(133-135)caG>caT	p.Q45H	FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H|FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	45					wound healing (GO:0042060)	cytosol (GO:0005829)		p.Q45H(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CCATGAAACAGGTTTGATTTT	0.348																																						ENST00000229395.3																			1	Substitution - Missense(1)	p.Q45H(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(133-135)caG>caT		FGFR1 oncogene partner 2							88	76	80					12																	27107226		2203	4300	6503	SO:0001630	splice_region_variant	26127					cytoplasm		g.chr12:27107226G>T	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.135+1G>T	12.37:g.27107226G>T			Somatic				FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H	p.Q45H	NM_015633.2	NP_056448.1	WXS	Illumina GAIIx	Phase_I	Q9NVK5	FGOP2_HUMAN			2	477	+	Colorectal(261;0.0847)		45					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Splice_Site	SNP	ENST00000229395.3	37	c.135G>T	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941363	0.92526	.	.	ENSG00000111790	ENST00000229395;ENST00000544111;ENST00000546072;ENST00000327214	.	.	.	5.35	5.35	0.76521	.	0.051118	0.85682	D	0.000000	T	0.76652	0.4017	L	0.55990	1.75	0.80722	D	1	P;D;D	0.60160	0.899;0.987;0.986	P;D;P	0.70016	0.648;0.967;0.794	T	0.77094	-0.2715	9	0.72032	D	0.01	0.3652	19.9476	0.97189	0.0:0.0:1.0:0.0	.	45;45;45	Q9NVK5-2;Q9NVK5;Q9NVK5-3	.;FGOP2_HUMAN;.	H	45	.	ENSP00000229395:Q45H	Q	+	3	2	FGFR1OP2	26998493	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.417000	0.97391	2.890000	0.99128	0.585000	0.79938	CAG		0.348	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	Missense_Mutation	3	65	3	65	---	---	---	---	T	27107226	G	T	27107226	5	4	34	1	0	0	0	0	0	0	1	0	5865	1014	35	1	137	1	FGFR1OP2	12	27107226	Splice_Site	SNP	G	TCGA-CH-5791-01A-11D-1576-08		27107226	106744669	27	2121										
ZNF641	121274	broad.mit.edu	37	chr12	48737263	48737263	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gaaccccatacaaactgtttCccacactgggggcatgtgtg	10	12	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.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G|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			Somatic				ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G	p.G270G			WXS	Illumina GAIIx	Phase_I	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	6	123	---	---	---	---	A	48737263	C	A	48737263	2	1	34	1	0	0	0	0	0	0	0	1	18054	842	30	3		3	ZNF641	12	48737263	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	21630037	48737263	85114632	28	2122										
GCN1L1	10985	broad.mit.edu	37	chr12	120615277	120615277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	aacattctctggactcctcaGtaaggacttctgtatggtgg	10	9	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.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			Somatic					p.L271L	NM_006836.1	NP_006827	WXS	Illumina GAIIx	Phase_I	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	19	66	---	---	---	---	A	120615277	G	A	120615277	2	1	34	1	0	0	0	0	0	0	0	1	6299	1020	36	2		2	GCN1L1	12	120615277	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	71878014	120615277	13236618	29	2123										
B3GNT4	79369	broad.mit.edu	37	chr12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-													0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	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_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000535274.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000545141.1_Intron	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)gctatcfs		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		Somatic				B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs	p.AI111fs			WXS	Illumina GAIIx	Phase_I	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	34	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	30	2124			1	8		2	2	16	N	CTATC_-	1.841261e-05
B3GNT4	79369	broad.mit.edu	37	chr12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT													0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	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_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000535274.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000545141.1_Intron	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.(346-351)tggggcfs		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		Somatic				B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.WG141fs	p.WG116fs			WXS	Illumina GAIIx	Phase_I	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	34	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	31	2125			1	8		2	2	16	N	CTATC_-	1.841261e-05
METTL3	56339	broad.mit.edu	37	chr14	21971365	21971365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gttggttcagaaggctctctAtctccagatcaacatctgag	9	10	5	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		Somatic				METTL3_ENST00000298717.4_Missense_Mutation_p.I225R	p.*154E			WXS	Illumina GAIIx	Phase_I	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	97	210	---	---	---	---	C	21971365	A	C	21971365	3	2	34	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	32	2126										
SPSB3	90864	broad.mit.edu	37	chr16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cgtctcggcgggctgcactcAggacgaagtgccaggccctg	15	14	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.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	NUBP2_ENST00000565987.1_5'Flank|NUBP2_ENST00000543305.1_5'Flank|NUBP2_ENST00000568706.1_5'Flank|NUBP2_ENST00000262302.9_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P|NUBP2_ENST00000565134.1_5'Flank	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		Somatic				SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	p.L15P	NM_080861.3	NP_543137.2	WXS	Illumina GAIIx	Phase_I	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	16	19	---	---	---	---	G	1831441	A	G	1831441	3	3	34	1	0	0	0	0	1	0	0	0	15113	188	7	2	1047	2	SPSB3	16	1831441	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		1831441	88523312	33	2127										
CCDC135	84229	broad.mit.edu	37	chr16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gagccgcctcaccacctatgAggacttgcagtgtaaggggg	14	11	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.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G|CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G			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		Somatic				CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G	p.E466G			WXS	Illumina GAIIx	Phase_I	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	3	75	---	---	---	---	G	57756742	A	G	57756742	3	3	34	1	0	0	0	0	1	0	0	0	2769	304	11	2	1431	2	CCDC135	16	57756742	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	55925301	57756742	32598011	34	2128										
AFG3L2	10939	broad.mit.edu	37	chr18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	agtcatcttgagcaccagttGtaattcttccaaagaagatt	7	8	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.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		Somatic					p.T643K	NM_006796.2	NP_006787.2	WXS	Illumina GAIIx	Phase_I	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	10	272	---	---	---	---	T	12340252	G	T	12340252	3	4	34	1	0	0	0	0	1	0	0	0	360	1377	48	3	477	3	AFG3L2	18	12340252	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		12340252	65736996	35	2129										
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	15	11	1	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		Somatic					p.R569W	NM_000453.2	NP_000444.1	WXS	Illumina GAIIx	Phase_I	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	76	154	---	---	---	---	T	18001748	C	T	18001748	3	4	34	1	0	0	0	0	1	0	0	0	14668	527	19	2	1759	2	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		18001748	41127235	36	2130										
FTCD	10841	broad.mit.edu	37	chr21	47570139	47570139	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	gcaccaggcccaccagctgtGagcccaccactgggaggctc	12	17	0	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.chr21:47570139G>T	ENST00000291670.5	-	7	843	c.800C>A	c.(799-801)tCa>tAa	p.S267*	FTCD_ENST00000397748.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD-AS1_ENST00000446649.1_RNA	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	267	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.S267*(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CACCAGCTGTGAGCCCACCAC	0.672																																						ENST00000397748.1																			1	Substitution - Nonsense(1)	p.S267*(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(799-801)tCa>tAa		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						14	16	16					21																	47570139		2194	4288	6482	SO:0001587	stop_gained	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47570139G>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.800C>A	21.37:g.47570139G>T	ENSP00000291670:p.Ser267*		Somatic				FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000291670.5_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*	p.S267*			WXS	Illumina GAIIx	Phase_I	O95954	FTCD_HUMAN		Colorectal(79;0.235)	7	843	-	Breast(49;0.214)		267			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Nonsense_Mutation	SNP	ENST00000291670.5	37	c.800C>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	G	37	6.548092	0.97654	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	.	.	.	4.57	4.57	0.56435	.	0.060486	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4025	0.87464	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000291670:S267X	S	-	2	0	FTCD	46394567	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	7.628000	0.83189	2.110000	0.64415	0.650000	0.86243	TCA		0.672	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		3	18	3	18	---	---	---	---	T	47570139	G	T	47570139	4	4	34	1	0	0	0	0	0	1	0	0	6081	1294	45	3	857	3	FTCD	21	47570139	Nonsense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		47570139	559756	37	2131										
PPEF1	5475	broad.mit.edu	37	chrX	18842131	18842131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.900772430184195	0	1.17793317793318	0.4	1	0	cctcagttcgaatctggtaaAcatagaccaaaatggaaacg	8	9	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.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|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		Somatic				PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S	p.N531S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	WXS	Illumina GAIIx	Phase_I	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	97	51	---	---	---	---	G	18842131	A	G	18842131	3	3	34	1	0	0	0	0	1	0	0	0	12307	43	2	2	1646	2	PPEF1	23	18842131	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		18842131	136428429	38	2132										
PGM1	5236	broad.mit.edu	37	chr1	64089265	64089265	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tggattacggaagaaaacctAttattttgaggaaaagccat	9	5	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.chr1:64089265A>G	ENST00000371084.3	+	2	459				PGM1_ENST00000371083.4_Missense_Mutation_p.Y45C|PGM1_ENST00000540265.1_Intron	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			Somatic				PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	p.Y45C	NM_001172818.1	NP_001166289.1	WXS	Illumina GAIIx	Phase_I	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	29	117	---	---	---	---	G	64089265	A	G	64089265	1	3	35	0	1	0	0	0	0	0	0	0	11797	449	16	2		2	PGM1	1	64089265	Intron	SNP	A	TCGA-CH-5792-01A-11D-1576-08		64089265	185161356	1	2133										
OR10Z1	128368	broad.mit.edu	37	chr1	158576873	158576873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gtctccttcttcttcatcacCatctcctacgcctacatctt	2	17	7	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.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			Somatic					p.T215T	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	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	28	267	---	---	---	---	T	158576873	C	T	158576873	2	4	35	1	0	0	0	0	0	0	0	1	10923	581	21	2		2	OR10Z1	1	158576873	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08	94487608	158576873	90673748	2	2134										
RNASEL	6041	broad.mit.edu	37	chr1	182550489	182550489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	acattccgaagcgtcctataGcggctgaagatgactaaatg	10	9	0	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.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			Somatic				RNASEL_ENST00000539397.1_Silent_p.R592R|RNASEL_ENST00000444138.1_Silent_p.R592R	p.R592R	NM_021133.3	NP_066956.1	WXS	Illumina GAIIx	Phase_I	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	46	187	---	---	---	---	A	182550489	G	A	182550489	2	1	35	1	0	0	0	0	0	0	0	1	13416	958	34	2		2	RNASEL	1	182550489	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	23973616	182550489	66700132	3	2135										
ATP2B4	493	broad.mit.edu	37	chr1	203682293	203682293	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gtgtggtctggtgttggcagGtagagcaagaaaagctggac	17	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.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2212G>A	c.(2212-2214)Gta>Ata	p.V738I	ATP2B4_ENST00000367219.3_Splice_Site_p.V726I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_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.(2212-2214)Gta>Ata		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			Somatic				ATP2B4_ENST00000391954.2_Splice_Site_p.V738I|ATP2B4_ENST00000341360.2_Splice_Site_p.V738I|ATP2B4_ENST00000367218.3_Splice_Site_p.V738I|ATP2B4_ENST00000367219.3_Splice_Site_p.V726I	p.V738I	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	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.2212G>A	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	34	153	---	---	---	---	A	203682293	G	A	203682293	5	1	35	1	0	0	0	0	0	0	1	0	1142	1275	44	2	2262	2	ATP2B4	1	203682293	Splice_Site	SNP	G	TCGA-CH-5792-01A-11D-1576-08	21131804	203682293	45568328	4	2136										
LHCGR	3973	broad.mit.edu	37	chr2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tgccagtctatggcatggttAtagtactggcccttggtttg	12	8	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.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000401907.1_Intron	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*		Somatic				STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*	p.Y427*	NM_000233.3	NP_000224.2	WXS	Illumina GAIIx	Phase_I	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	12	94	---	---	---	---	T	48915655	A	T	48915655	4	4	35	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		48915655	194283718	5	2137										
ZSWIM2	151112	broad.mit.edu	37	chr2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	aattttataatcataggttaAtttttttgaatttgaattat	4	1	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.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		Somatic					p.L483I	NM_182521.2	NP_872327.2	WXS	Illumina GAIIx	Phase_I	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	17	85	---	---	---	---	T	187693166	A	T	187693166	3	4	35	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	6	2138										
IRS1	3667	broad.mit.edu	37	chr2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-													0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	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)																										ENST00000305123.5																			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)ccafs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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)							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	35	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	7	2139										
CMYA5	202333	broad.mit.edu	37	chr5	79029070	79029070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gaagcaagggtagaagacaaAcaagatcttttattttctac	8	6	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.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			Somatic					p.K1494K	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	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	13	213	---	---	---	---	G	79029070	A	G	79029070	2	3	35	1	0	0	0	0	0	0	0	1	3590	40	2	2		2	CMYA5	5	79029070	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08		79029070	101886190	8	2140										
PCDHB14	56122	broad.mit.edu	37	chr5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gcgaggcgctggtgcgcgtgCtggtgctggacgccaacgac	18	12	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.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	56122				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		Somatic				PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	p.L550V	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	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	5	79	---	---	---	---	G	140604725	C	G	140604725	3	3	35	1	0	0	0	0	1	0	0	0	11539	796	28	4	1650	4	PCDHB14	5	140604725	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	61575655	140604725	40310535	9	2141										
VGF	7425	broad.mit.edu	37	chr7	100807837	100807837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tgggagccgcttggtgccggGggtgaggcgggacggtcgag	23	8	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			Somatic				VGF_ENST00000445482.2_Silent_p.P96P	p.P96P	NM_003378.3	NP_003369.2	WXS	Illumina GAIIx	Phase_I	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	4	21	---	---	---	---	A	100807837	G	A	100807837	2	1	35	1	0	0	0	0	0	0	0	1	17154	1219	43	2		2	VGF	7	100807837	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08		100807837	58330826	10	2142										
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	aggtttcttcgtcataatgaAggtactttggaggaaacgtt	11	5	2	1	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		Somatic					p.L29R	NM_002546.3	NP_002537.3	WXS	Illumina GAIIx	Phase_I	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	36	165	---	---	---	---	C	119945484	A	C	119945484	3	2	35	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		119945484	26418538	11	2143										
NFIL3	4783	broad.mit.edu	37	chr9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gcagtagtgggggagagtgtGagtacccagagaaagaattc	16	5	0	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.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*		Somatic					p.S256*	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	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	28	187	---	---	---	---	C	94172250	G	C	94172250	4	2	35	1	0	0	0	0	0	1	0	0	10373	1294	45	4	625	4	NFIL3	9	94172250	Nonsense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		94172250	47041181	12	2144										
KIAA1217	56243	broad.mit.edu	37	chr10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	agctggggggaaagtcgcccCctcctcctccgccacctcct	10	19	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.chr10:24820812C>A	ENST00000376454.3	+	15	3166	c.3136C>A	c.(3136-3138)Cct>Act	p.P1046T	KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|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		Somatic				KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T	p.P729T			WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	A	24820812	C	A	24820812	3	1	35	1	0	0	0	0	1	0	0	0	8216	623	22	1	3194	1	KIAA1217	10	24820812	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		24820812	110713935	13	2145										
NDST2	8509	broad.mit.edu	37	chr10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tgctccggtctagttcacgaGagcctccaggatactcatta	9	12	3	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.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																																						ENST00000603027.1																			1	Substitution - Missense(1)	p.S501F(1)	prostate(1)								c.(1501-1503)tCt>tTt									75	80	78					10																	75565719		2203	4300	6503	SO:0001583	missense	8509							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		Somatic				NDST2_ENST00000299641.4_Missense_Mutation_p.S378F|NDST2_ENST00000309979.6_Missense_Mutation_p.S501F	p.S501F			WXS	Illumina GAIIx	Phase_I					7	2125	-			501					Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1502C>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	34	129	---	---	---	---	A	75565719	G	A	75565719	3	1	35	1	0	0	0	0	1	0	0	0	10256	942	33	2	1185	2	NDST2	10	75565719	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	50744907	75565719	59969028	14	2146										
HCFC2	29915	broad.mit.edu	37	chr12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tggcatcaaatgcttctaatCataatagtcatgtggtggat	9	6	4	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.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		Somatic				HCFC2_ENST00000550335.1_3'UTR	p.H475Y	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	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	17	98	---	---	---	---	T	104487302	C	T	104487302	3	4	35	1	0	0	0	0	1	0	0	0	6993	826	29	2	1461	2	HCFC2	12	104487302	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		104487302	29364593	15	2147										
SEL1L	6400	broad.mit.edu	37	chr14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gatatcttctgtgacactttCcccctcttggctcttgaggc	8	13	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.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		Somatic				SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	p.E85K	NM_005065.5	NP_005056.3	WXS	Illumina GAIIx	Phase_I	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	10	316	---	---	---	---	T	81993164	C	T	81993164	3	4	35	1	0	0	0	0	1	0	0	0	14010	864	30	2	2207	2	SEL1L	14	81993164	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		81993164	25356376	16	2148										
IGF1R	3480	broad.mit.edu	37	chr15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	agccgaagatttcacagtcaAaatcggaggtgtgtccttag	11	8	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.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		Somatic				IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	p.K1150R	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	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	36	160	---	---	---	---	G	99482581	A	G	99482581	3	3	35	1	0	0	0	0	1	0	0	0	7571	14	1	2	3519	2	IGF1R	15	99482581	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08		99482581	3048811	17	2149										
C16orf46	123775	broad.mit.edu	37	chr16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gatgcaggcagctggagaagTccttccccacccttggacct	11	14	0	1	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	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.T77A|C16orf46_ENST00000444657.3_5'UTR	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		Somatic				C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|RP11-303E16.8_ENST00000564536.1_RNA	p.T77A	NM_001100873.1	NP_001094343.1	WXS	Illumina GAIIx	Phase_I	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	29	100	---	---	---	---	C	81095725	T	C	81095725	3	2	35	1	0	0	0	0	1	0	0	0	1815	1667	58	2	990	2	C16orf46	16	81095725	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08		81095725	9259028	18	2150										
P2RX5	5026	broad.mit.edu	37	chr17	3595042	3595042	+	Frame_Shift_Del	DEL	G	G	-													0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	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_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5-TAX1BP3_ENST00000550383.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_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)ctgfs									184	158	167					17																	3595042		2203	4300	6503	SO:0001589	frameshift_variant	100533970							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		Somatic				P2RX5_ENST00000551178.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552050.1_Frame_Shift_Del_p.L26fs|P2RX5_ENST00000345901.3_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000225328.5_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000552276.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000435558.1_Frame_Shift_Del_p.L62fs|P2RX5_ENST00000547178.1_Frame_Shift_Del_p.L62fs	p.L62fs			WXS	Illumina GAIIx	Phase_I					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	35	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	19	2151										
TAF15	8148	broad.mit.edu	37	chr17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	cctatggtggttatgagaatCaaaagcagagctcatatagc	10	7	2	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.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*|TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA	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*		Somatic				AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*	p.Q73*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	WXS	Illumina GAIIx	Phase_I	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	16	73	---	---	---	---	T	34147368	C	T	34147368	4	4	35	1	0	0	0	0	0	1	0	0	15515	827	29	2	235	2	TAF15	17	34147368	Nonsense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	30552326	34147368	47047842	20	2152										
SFRS2	6427	broad.mit.edu	37	chr17	74732290	74732291	+	Nonsense_Mutation	DNP	TC	TC	AA													0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	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.chr17:74732290_74732291TC>AA	ENST00000392485.2	-	2	790_791	c.618_619GA>TT	c.(616-621)tcGAag>tcTTag	p.K207*	SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000355954.3_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.S186S(1)|p.S206S(1)|p.K187*(1)|p.K207*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGGACTCTTCGATCGCGACC	0.55			Mis		"MDS, CLL"																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"MDS, CLL"		4	Substitution - Nonsense(2)|Substitution - coding silent(2)	p.K187*(1)|p.K207*(1)|p.S186S(1)|p.S206S(1)	prostate(4)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(619-621)Aag>Tag|c.(616-618)tcG>tcT		serine/arginine-rich splicing factor 2																																				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|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.618_619delinsAA	17.37:g.74732290_74732291delinsAA	ENSP00000376276:p.Lys207*		Somatic				MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Nonsense_Mutation_p.K207*|SRSF2_ENST00000508921.3_Nonsense_Mutation_p.K195*|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.S206S|SRSF2_ENST00000508921.3_Silent_p.S194S|RP11-318A15.7_ENST00000587459.1_Intron	p.K207*|p.S206S	NM_003016.4	NP_003007.2	WXS	Illumina GAIIx	Phase_I	Q01130	SRSF2_HUMAN			2	791|790	-			207|206			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Nonsense_Mutation|Silent	SNP	ENST00000392485.2	37	c.619A>T|c.618G>T	CCDS11749.1																																																																																				0.55	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		5|6	175	5	175	---	---	---	---	AA	74732291	TC	AA	74732290	4	1	35	1	0	0	0	0	0	1	0	0	14175	1792	62	5	50	5	SFRS2	17	74732290	Nonsense_Mutation	DNP	TC	TCGA-CH-5792-01A-11D-1576-08	40584922	74732290	6462920	21	2153										
ESCO1	114799	broad.mit.edu	37	chr18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	agttctggaatagcacattaGtggagcctgttgaaaaccta	10	7	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.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		Somatic					p.L700V	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	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	44	170	---	---	---	---	C	19116092	G	C	19116092	3	2	35	1	0	0	0	0	1	0	0	0	5248	1020	36	4	436	4	ESCO1	18	19116092	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		19116092	58961156	22	2154										
KEAP1	9817	broad.mit.edu	37	chr19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tacggggcacgctcatggggGcgcagggcgaccactgattg	17	11	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.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	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		Somatic				KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	p.A407V	NM_203500.1	NP_987096.1	WXS	Illumina GAIIx	Phase_I	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	5	17	---	---	---	---	A	10602358	G	A	10602358	3	1	35	1	0	0	0	0	1	0	0	0	8141	1203	42	2	670	2	KEAP1	19	10602358	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		10602358	48526625	23	2155										
C19orf41	126123	broad.mit.edu	37	chr19	50662822	50662822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	ccctgagggtcaccagctctTccagcagaggctcatctgag	11	14	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.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		Somatic					p.E108G	NM_152358.2	NP_689571.2	WXS	Illumina GAIIx	Phase_I	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	9	87	---	---	---	---	C	50662822	T	C	50662822	3	2	35	1	0	0	0	0	1	0	0	0	1924	1783	62	2	362	2	C19orf41	19	50662822	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08	40060464	50662822	8466161	24	2156										
NLRP9	338321	broad.mit.edu	37	chr19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	tgctcaaagccatccatgatGaacagaattctctctggctg	8	11	3	3	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		Somatic					p.F225L	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	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	5	48	---	---	---	---	T	56244522	G	T	56244522	3	4	35	1	0	0	0	0	1	0	0	0	10484	1281	45	3	2332	3	NLRP9	19	56244522	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	5581700	56244522	2884461	25	2157										
MAPRE1	22919	broad.mit.edu	37	chr20	31424469	31424469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	gtggacaaattagtaaaaggAaagtttcaggacaattttga	10	3	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.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			Somatic					p.G99G	NM_012325.2	NP_036457.1	WXS	Illumina GAIIx	Phase_I	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	13	73	---	---	---	---	G	31424469	A	G	31424469	2	3	35	1	0	0	0	0	0	0	0	1	9294	233	9	2		2	MAPRE1	20	31424469	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08		31424469	31601051	26	2158										
HDAC6	10013	broad.mit.edu	37	chrX	48674947	48674948	+	Missense_Mutation	DNP	TG	TG	GC													0.148148148148148	4	0.968713181754189	2.10045662100457	2.10045662100457	2.10045662100457	0.523809523809524	1	0	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:48674947_48674948TG>GC	ENST00000334136.5	+	19	1876_1877	c.1698_1699TG>GC	c.(1696-1701)ttTGac>ttGCac	p.566_567FD>LH	HDAC6_ENST00000376619.2_Missense_Mutation_p.566_567FD>LH|HDAC6_ENST00000444343.2_Missense_Mutation_p.580_581FD>LH			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)|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)	GTTCCAACTTTGACTCCATCTA	0.594																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			3	Substitution - Missense(3)	p.F566L(1)|p.D567Y(1)|p.D567H(1)	prostate(2)|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.(1696-1698)ttT>ttG|c.(1699-1701)Gac>Cac		histone deacetylase 6	Vorinostat(DB02546)																																			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|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	Exception_encountered	X.37:g.48674947_48674948delinsGC	ENSP00000334061:p.F566_D567delinsLH		Somatic				HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L|HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L|HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H|HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H	p.F566L|p.D567H			WXS	Illumina GAIIx	Phase_I	Q9UBN7	HDAC6_HUMAN			19	1876|1877	+			566|567			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1698T>G|c.1699G>C	CCDS14306.1																																																																																				0.594	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	22|21	16	21	---	---	---	---	GC	48674948	TG	GC	48674947	3	3	35	1	0	0	0	0	1	0	0	0	7011	1809	63	5	1768	5	HDAC6	23	48674947	Missense_Mutation	DNP	TG	TCGA-CH-5792-01A-11D-1576-08		48674947	106595613	27	2159										
SPTA1	6708	broad.mit.edu	37	chr1	158585065	158585065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	aacccaagctggtagagctgGtcccactgctgagccaatcc	10	14	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.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																																						ENST00000368147.4																			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			Somatic					p.D2243D	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			48	6909	-	all_hematologic(112;0.0378)							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	87	233	---	---	---	---	A	158585065	G	A	158585065	2	1	36	1	0	0	0	0	0	0	0	1	15115	1252	44	2		2	SPTA1	1	158585065	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08		158585065	90665556	1	2160										
CCDC121	79635	broad.mit.edu	37	chr2	27850383	27850383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	gcttcaaactggattggataTtttccttttgcaagagcgct	9	8	1	1	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_ENST00000407583.3_5'Flank|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000264718.3_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S	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		Somatic				ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|RP11-158I13.2_ENST00000505973.1_RNA	p.N95S	NM_024584.4	NP_078860.2	WXS	Illumina GAIIx	Phase_I	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	158	322	---	---	---	---	C	27850383	T	C	27850383	3	2	36	1	0	0	0	0	1	0	0	0	2757	1493	52	2	556	2	CCDC121	2	27850383	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		27850383	215348990	2	2161										
ITGA4	3676	broad.mit.edu	37	chr2	182376434	182376434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	ttttatttccagataaacttTgcaaggttttgtgcccatga	7	7	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.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			Somatic					p.F618F	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	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	62	181	---	---	---	---	C	182376434	T	C	182376434	2	2	36	1	0	0	0	0	0	0	0	1	7878	1809	63	2		2	ITGA4	2	182376434	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	154526051	182376434	60822939	3	2162										
AGFG1	3267	broad.mit.edu	37	chr2	228389506	228389506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tgtaggtcgttctcaagggcAgcagcaggagaagaagcaat	14	7	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.chr2:228389506A>C	ENST00000310078.8	+	5	829	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409315.1_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																																						ENST00000310078.8																			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		Somatic				AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P	p.Q190P	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	WXS	Illumina GAIIx	Phase_I	P52594	AGFG1_HUMAN			5	829	+								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	57	194	---	---	---	---	C	228389506	A	C	228389506	3	2	36	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	4	2163										
VGLL4	9686	broad.mit.edu	37	chr3	11744501	11744501	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tggacaaaacatccaatggcGtctccattcctggttggagc	10	11	1	0	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			Somatic				VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M				WXS	Illumina GAIIx	Phase_I	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	11	44	---	---	---	---	A	11744501	G	A	11744501	1	1	36	1	0	1	0	0	0	0	0	0	17158	1145	40	2		2	VGLL4	3	11744501	De_novo_Start_OutOfFrame	SNP	G	TCGA-CH-5794-01A-11D-1576-08		11744501	186277929	5	2164										
AMIGO3	29925	broad.mit.edu	37	chr3	49755885	49755885	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tgctcctgtacgttgcctatGgccaagctgccgtcggccag	12	14	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.chr3:49755885G>A	ENST00000480687.1	-	0	4499				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.A338A|AMIGO3_ENST00000535833.1_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			Somatic				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A338A|RNF123_ENST00000433785.1_Intron	p.A338A			WXS	Illumina GAIIx	Phase_I	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	9	34	---	---	---	---	A	49755885	G	A	49755885	1	1	36	0	1	0	0	0	0	0	0	0	577	1335	47	2		2	AMIGO3	3	49755885	3'UTR	SNP	G	TCGA-CH-5794-01A-11D-1576-08	38011384	49755885	148266545	6	2165										
IQCJ	654502	broad.mit.edu	37	chr3	158980372	158980373	+	Frame_Shift_Ins	INS	-	-	G													0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	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_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000485419.1_Frame_Shift_Ins_p.E65fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs	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.(190-195)caggagfs																																						SO:0001589	frameshift_variant	100505385					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		Somatic				IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.E65fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs	p.E65fs	NM_001197113.1	NP_001184042.1	WXS	Illumina GAIIx	Phase_I	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	36	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	109224487	158980372	39042058	7	2166										
GPR160	26996	broad.mit.edu	37	chr3	169802125	169802125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	agcttgtatagattattgccTgaatttctctaaaacaacca	5	8	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.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		Somatic					p.L122P	NM_014373.2	NP_055188.1	WXS	Illumina GAIIx	Phase_I	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	3	101	---	---	---	---	C	169802125	T	C	169802125	3	2	36	1	0	0	0	0	1	0	0	0	6664	1580	55	2	367	2	GPR160	3	169802125	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08	10821753	169802125	28220305	8	2167										
RAI14	26064	broad.mit.edu	37	chr5	34826505	34826505	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	cctctcccagctctcctactCaacaagctcatccaaaaggc	4	18	4	0	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_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*	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*		Somatic				RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|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*	p.S907*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	WXS	Illumina GAIIx	Phase_I	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	28	67	---	---	---	---	G	34826505	C	G	34826505	4	3	36	1	0	0	0	0	0	1	0	0	13008	838	29	4	2843	4	RAI14	5	34826505	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		34826505	146088755	9	2168										
SLCO6A1	133482	broad.mit.edu	37	chr5	101813486	101813486	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tgcacagtctgcccaaggatGaagaaagacaggtattttga	11	7	1	4	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_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000513675.1_Intron			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			Somatic				SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Intron	p.F232F			WXS	Illumina GAIIx	Phase_I	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	77	206	---	---	---	---	A	101813486	G	A	101813486	2	1	36	1	0	0	0	0	0	0	0	1	14732	1281	45	2		2	SLCO6A1	5	101813486	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	66986981	101813486	79101774	10	2169										
ADAMTS19	171019	broad.mit.edu	37	chr5	128957923	128957923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	taactgcttgctacaaacaaAtccgcagagtgtcaattctg	7	10	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.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		Somatic				CTC-575N7.1_ENST00000503616.1_RNA	p.N545T	NM_133638.3	NP_598377.3	WXS	Illumina GAIIx	Phase_I	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	28	70	---	---	---	---	C	128957923	A	C	128957923	3	2	36	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	11	2170										
HIST1H4K	8362	broad.mit.edu	37	chr6	27799301	27799301	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tcccgcctttgccgcggccaGacatgacgagcaagaggagt	13	13	0	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.chr6:27799301G>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		Somatic					p.S2C	NM_003541.2	NP_003532.1	WXS	Illumina GAIIx	Phase_I	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	16	68	---	---	---	---	C	27799301	G	C	27799301	3	2	36	1	0	0	0	0	1	0	0	0	7175	942	33	4	310	4	HIST1H4K	6	27799301	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		27799301	143315766	12	2171										
PTK7	5754	broad.mit.edu	37	chr6	43106701	43106701	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tacagttgtctggtacagaaAccagatgctcatctcagagg	10	9	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	5754				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		Somatic				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	p.N448S	NM_002821.4	NP_002812.2	WXS	Illumina GAIIx	Phase_I	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	3	110	---	---	---	---	G	43106701	A	G	43106701	3	3	36	1	0	0	0	0	1	0	0	0	12765	43	2	2	1373	2	PTK7	6	43106701	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	15307400	43106701	128008366	13	2172										
HCRTR2	3062	broad.mit.edu	37	chr6	55147206	55147206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	agttgtgctcactagcataaGcacactcccagcagccaatg	8	13	1	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.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		Somatic					p.S430N	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	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	11	25	---	---	---	---	A	55147206	G	A	55147206	3	1	36	1	0	0	0	0	1	0	0	0	7002	971	34	2	1315	2	HCRTR2	6	55147206	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	12040505	55147206	115967861	14	2173										
COPS6	10980	broad.mit.edu	37	chr7	99686977	99686977	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	gtcgctctccatccccttgtCattctcaacatctcagacca	4	17	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.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			Somatic				COPS6_ENST00000418625.1_Silent_p.V46V	p.V47V	NM_006833.4	NP_006824.2	WXS	Illumina GAIIx	Phase_I	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	75	191	---	---	---	---	G	99686977	C	G	99686977	2	3	36	1	0	0	0	0	0	0	0	1	3737	813	29	4		4	COPS6	7	99686977	Silent	SNP	C	TCGA-CH-5794-01A-11D-1576-08		99686977	59451686	15	2174										
LRCH4	4034	broad.mit.edu	37	chr7	100172836	100172836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	ggggccagaggggcggtaggGccttgccccccacccgcttc	16	16	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.chr7:100172836G>A	ENST00000310300.6	-	18	1998	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V|SAP25_ENST00000538735.1_5'Flank	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		Somatic				LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	p.A649V	NM_002319.3	NP_002310.2	WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	A	100172836	G	A	100172836	3	1	36	1	0	0	0	0	1	0	0	0	8935	1203	42	2	109	2	LRCH4	7	100172836	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	485859	100172836	58965827	16	2175										
NKX3-1	4824	broad.mit.edu	37	chr8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	gctgctttcgcttagtcttaTagcgtctgttctggaaccat	9	10	3	0	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		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	p.Y177C	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	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	80	250	---	---	---	---	C	23538909	T	C	23538909	3	2	36	1	0	0	0	0	1	0	0	0	10455	1406	49	2	178	2	NKX3-1	8	23538909	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		23538909	122825113	17	2176										
FMNL3	91010	broad.mit.edu	37	chr12	50041517	50041519	+	In_Frame_Del	DEL	GGG	GGG	-													0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	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_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L|FMNL3_ENST00000335154.5_In_Frame_Del_p.915_916FP>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)ttccca>tta		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		Somatic				FMNL3_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000293590.5_In_Frame_Del_p.915_916FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L	p.915_916FP>L	NM_175736.4	NP_783863.4	WXS	Illumina GAIIx	Phase_I	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	36	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	18	2177										
ATP2A2	488	broad.mit.edu	37	chr12	110765384	110765384	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	aacattgctgctgggaaagcTatgggagtggtggtagcaac	15	6	0	0	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			Somatic				ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A	p.A192A			WXS	Illumina GAIIx	Phase_I	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	100	239	---	---	---	---	A	110765384	T	A	110765384	2	1	36	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	19	2178										
NOVA1	4857	broad.mit.edu	37	chr14	26917506	26917506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	agctccaaaatatccattggTtgcagcagtagcagcagcca	9	11	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.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		Somatic				NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S	p.T395S	NM_002515.2	NP_002506.2	WXS	Illumina GAIIx	Phase_I	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	13	36	---	---	---	---	A	26917506	T	A	26917506	3	1	36	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		26917506	80432034	20	2179										
DDHD1	80821	broad.mit.edu	37	chr14	53521264	53521264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	atcttccattgagtcttttgAtgtttcagatgactgtgttg	9	6	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.chr14:53521264A>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	80821				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		Somatic				DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P	p.S777P	NM_030637.2	NP_085140.2	WXS	Illumina GAIIx	Phase_I	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	4	176	---	---	---	---	G	53521264	A	G	53521264	3	3	36	1	0	0	0	0	1	0	0	0	4326	333	12	2	385	2	DDHD1	14	53521264	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	26603758	53521264	53828276	21	2180										
XAB2	56949	broad.mit.edu	37	chr19	7691147	7691147	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	aatgtactcctctgcactctCaggactcagctggggaccga	10	13	3	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.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*		Somatic				XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	p.E178*	NM_020196.2	NP_064581.2	WXS	Illumina GAIIx	Phase_I	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	4	211	---	---	---	---	A	7691147	C	A	7691147	4	1	36	1	0	0	0	0	0	1	0	0	17415	835	29	3	2095	3	XAB2	19	7691147	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		7691147	51437836	22	2181										
OLFM2	93145	broad.mit.edu	37	chr19	9965490	9965490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tgatgaagtctcccagggtaCggaactccaggacccggcgg	14	12	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.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		Somatic				OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	p.R246H	NM_058164.2	NP_477512.1	WXS	Illumina GAIIx	Phase_I	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	6	23	---	---	---	---	T	9965490	C	T	9965490	3	4	36	1	0	0	0	0	1	0	0	0	10853	536	19	2	631	2	OLFM2	19	9965490	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	2274343	9965490	49163493	23	2182										
NF2	4771	broad.mit.edu	37	chr22	30035110	30035110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tgatgtttcaaaggaagaacCagtcacctttcacttcttgg	8	9	4	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.chr22:30035110C>T	ENST00000338641.4	+	3	713	c.272C>T	c.(271-273)cCa>cTa	p.P91L	NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L	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		Somatic				NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron	p.P91L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	WXS	Illumina GAIIx	Phase_I	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	35	88	---	---	---	---	T	30035110	C	T	30035110	3	4	36	1	0	0	0	0	1	0	0	0	10357	594	21	2	282	2	NF2	22	30035110	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		30035110	21269456	24	2183										
C22orf28	51493	broad.mit.edu	37	chr22	32794016	32794016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	tcgatgcccatttttttagcAgcatactcattgaaaatctc	5	10	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.chr22:32794016A>G	ENST00000216038.5	-	7	824	c.726T>C	c.(724-726)gcT>gcC	p.A242A	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	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			Somatic				RTCB_ENST00000451746.2_Intron	p.A242A	NM_014306.4	NP_055121.1	WXS	Illumina GAIIx	Phase_I					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	45	136	---	---	---	---	G	32794016	A	G	32794016	2	3	36	1	0	0	0	0	0	0	0	1	2140	175	7	2		2	C22orf28	22	32794016	Silent	SNP	A	TCGA-CH-5794-01A-11D-1576-08	2758906	32794016	18510550	25	2184										
ZNF182	7569	broad.mit.edu	37	chrX	47837103	47837103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.930579858446434	2.47375160051216	6.80281690140845	0.850352112676056	0.523809523809524	1	0	gagcactcttggtgataattGttttcttgtcagaaaatcca	8	7	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.chrX:47837103G>T	ENST00000396965.1	-	7	733	c.383C>A	c.(382-384)aCa>aAa	p.T128K	ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K|ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K	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		Somatic				ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K	p.T128K	NM_001178099.1	NP_001171570.1	WXS	Illumina GAIIx	Phase_I	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	6	63	---	---	---	---	T	47837103	G	T	47837103	3	4	36	1	0	0	0	0	1	0	0	0	17747	1377	48	3	1540	3	ZNF182	23	47837103	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		47837103	107433457	26	2185										
ASH1L	55870	broad.mit.edu	37	chr1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-													0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	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)tttfs		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		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs	p.F1324fs			WXS	Illumina GAIIx	Phase_I	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	37	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	2186										
FCRL4	83417	broad.mit.edu	37	chr1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ccctccagtggctcccgcggCgacaaggccatctctgttgc	11	17	1	0	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		Somatic				FCRL4_ENST00000448509.2_5'UTR	p.A389T	NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	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	5	44	---	---	---	---	T	157551405	C	T	157551405	3	4	37	1	0	0	0	0	1	0	0	0	5797	768	27	2	406	2	FCRL4	1	157551405	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	2102716	157551405	91699216	2	2187										
HMCN1	83872	broad.mit.edu	37	chr1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	gacaacatttattaggggacGggaaatcttgcgctggattg	13	6	1	0	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		Somatic				HMCN1_ENST00000367492.2_Intron	p.G5351R	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	11	333	---	---	---	---	A	186147655	G	A	186147655	3	1	37	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	2188										
UBR3	130507	broad.mit.edu	37	chr2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	cagttccagcatttgatattAtaactcagtggtgttttgag	9	6	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.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V			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		Somatic				UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V	p.I1714V			WXS	Illumina GAIIx	Phase_I	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	91	137	---	---	---	---	G	170930058	A	G	170930058	3	3	37	1	0	0	0	0	1	0	0	0	16900	449	16	2	5282	2	UBR3	2	170930058	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		170930058	72269315	4	2189										
SCN11A	11280	broad.mit.edu	37	chr3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	aggctcaggttgtgtgatgcGctgtgcattatcttcaccag	12	9	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.chr3:38936053G>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																																						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.(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		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R936C	p.R936C			WXS	Illumina GAIIx	Phase_I	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	10	480	---	---	---	---	A	38936053	G	A	38936053	3	1	37	1	0	0	0	0	1	0	0	0	13913	1087	38	2	2617	2	SCN11A	3	38936053	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		38936053	159086377	5	2190										
CTNNB1	1499	broad.mit.edu	37	chr3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	gcagcaacagtcttacctggActctggaatccattctggtg	10	11	3	0	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_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000396185.3_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		Somatic				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	p.D32V	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	5	52	---	---	---	---	T	41266098	A	T	41266098	3	4	37	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	6	2191										
FHIT	2272	broad.mit.edu	37	chr3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ccactggccgcagcgggcacAcaaggacatctgtagcaagg	13	13	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.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_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		Somatic				FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron	p.V38A			WXS	Illumina GAIIx	Phase_I	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	6	84	---	---	---	---	G	59999869	A	G	59999869	3	3	37	1	0	0	0	0	1	0	0	0	5877	159	6	2	346	2	FHIT	3	59999869	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	18733771	59999869	138022561	7	2192										
LIMCH1	22998	broad.mit.edu	37	chr4	41621299	41621299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	cggcggacttcccatggtgaGccgaaatcagcagtgccttt	12	12	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.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E	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			Somatic				LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512946.1_Silent_p.E259E	p.E259E	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	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	18	261	---	---	---	---	A	41621299	G	A	41621299	2	1	37	1	0	0	0	0	0	0	0	1	8797	962	34	2		2	LIMCH1	4	41621299	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		41621299	149532977	8	2193										
PCDHB7	56129	broad.mit.edu	37	chr5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	tgcctgagggcccctttccaCgacatctggtggacttgagc	12	13	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.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	56129				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*		Somatic					p.R732*	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	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	21	525	---	---	---	---	T	140554610	C	T	140554610	4	4	37	1	0	0	0	0	0	1	0	0	11547	528	19	2	2196	2	PCDHB7	5	140554610	Nonsense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		140554610	40360650	9	2194										
CDK19	23097	broad.mit.edu	37	chr6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	tatacaacctattgcccataTatctgggaaggaagaaacat	7	8	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.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		Somatic				CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	p.I217V	NM_015076.3	NP_055891.1	WXS	Illumina GAIIx	Phase_I	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	45	80	---	---	---	---	C	110948346	T	C	110948346	3	2	37	1	0	0	0	0	1	0	0	0	3135	1406	49	2	887	2	CDK19	6	110948346	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08		110948346	60166721	10	2195										
NEUROD6	63974	broad.mit.edu	37	chr7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	cgattctcagaatttcagaaAgtgcccagatgtagtttttg	9	7	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.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		Somatic					p.L146P	NM_022728.2	NP_073565.2	WXS	Illumina GAIIx	Phase_I	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	42	94	---	---	---	---	G	31378446	A	G	31378446	3	3	37	1	0	0	0	0	1	0	0	0	10351	72	3	2	580	2	NEUROD6	7	31378446	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		31378446	127760217	11	2196										
ENPP2	5168	broad.mit.edu	37	chr8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	accctagctgtgtgcatcttCatgagttcttctacccattt	6	12	4	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.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_ENST00000427067.2_Missense_Mutation_p.M841I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I	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	5168				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		Somatic				ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I	p.M841I			WXS	Illumina GAIIx	Phase_I	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	7	228	---	---	---	---	T	120569893	C	T	120569893	3	4	37	1	0	0	0	0	1	0	0	0	5130	826	29	2	135	2	ENPP2	8	120569893	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		120569893	25794129	12	2197										
CRB2	286204	broad.mit.edu	37	chr9	126132707	126132708	+	Missense_Mutation	DNP	CT	CT	AA													0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	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.chr9:126132707_126132708CT>AA	ENST00000373631.3	+	7	1376_1377	c.1375_1376CT>AA	c.(1375-1377)CTg>AAg	p.L459K	CRB2_ENST00000373629.2_Missense_Mutation_p.L127K|CRB2_ENST00000359999.3_Missense_Mutation_p.L459K	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)|p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGCA	0.614																																						ENST00000373631.3																			2	Substitution - Missense(2)	p.L459M(1)|p.L459Q(1)	prostate(2)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)Ctg>Atg|c.(1375-1377)cTg>cAg		crumbs homolog 2 (Drosophila)																																				SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132707C>A|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	Exception_encountered	9.37:g.126132707_126132708delinsAA	ENSP00000362734:p.Leu459Lys		Somatic				CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M|CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	p.L459M|p.L459Q	NM_173689.5	NP_775960.4	WXS	Illumina GAIIx	Phase_I	Q5IJ48	CRUM2_HUMAN			7	1376|1377	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1375C>A|c.1376T>A	CCDS6852.2																																																																																				0.614	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	56|55	5	55	---	---	---	---	AA	126132708	CT	AA	126132707	3	1	37	1	0	0	0	0	1	0	0	0	3849	680	24	1	1401	1	CRB2	9	126132707	Missense_Mutation	DNP	CT	TCGA-EJ-5494-01A-01D-1576-08		126132707	15080724	13	2198										
SH3GLB2	56904	broad.mit.edu	37	chr9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ggcggtagcactgtgcgtagTaggttgtctgagacttgacg	16	7	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.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C	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		Somatic				SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C	p.Y263C	NM_020145.2	NP_064530.1	WXS	Illumina GAIIx	Phase_I	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	9	13	---	---	---	---	C	131772101	T	C	131772101	3	2	37	1	0	0	0	0	1	0	0	0	14254	1638	57	2	411	2	SH3GLB2	9	131772101	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	5639394	131772101	9441330	14	2199										
CUL2	8453	broad.mit.edu	37	chr10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ctccaaggggttcaggatagGccacacataaagcatagata	10	9	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.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|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		Somatic				CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S	p.A48V			WXS	Illumina GAIIx	Phase_I	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	11	118	---	---	---	---	A	35351967	G	A	35351967	3	1	37	1	0	0	0	0	1	0	0	0	4055	1203	42	2	2170	2	CUL2	10	35351967	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		35351967	100182780	15	2200										
MEN1	4221	broad.mit.edu	37	chr11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	tcactatgcgcaccttctgcCgcacctgggccagtggggag	13	14	2	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.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q	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	4221	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		Somatic				MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q	p.R457Q	NM_130803.2	NP_570715	WXS	Illumina GAIIx	Phase_I	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	21	119	---	---	---	---	T	64572284	C	T	64572284	3	4	37	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		64572284	70434232	16	2201										
FOXA1	3169	broad.mit.edu	37	chr14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	accccccagtcccgggagctAggaagtgtttaggacgggtc	14	12	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.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	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		Somatic				FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	p.*473E	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	C	38060572	A	C	38060572	4	2	37	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	17	2202										
FOXA1	3169	broad.mit.edu	37	chr14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-													0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	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_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR	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)gcafs		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		Somatic				FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR	p.A423fs	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	37	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	18	2203										
LAMA3	3909	broad.mit.edu	37	chr18	21426327	21426327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	gtggccttttaccacaagggCgccctgccttgtgagtgcca	12	13	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.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			Somatic				LAMA3_ENST00000399516.3_Silent_p.G1262G	p.G1262G	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	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	7	189	---	---	---	---	T	21426327	C	T	21426327	2	4	37	1	0	0	0	0	0	0	0	1	8607	755	27	2		2	LAMA3	18	21426327	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		21426327	56650921	19	2204										
SIPA1L3	23094	broad.mit.edu	37	chr19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ccaggccctcaccgagctccTccgggcagatcctggcccac	10	20	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.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		Somatic					p.L242P	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	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	3	58	---	---	---	---	C	38572930	T	C	38572930	3	2	37	1	0	0	0	0	1	0	0	0	14331	1551	54	2	727	2	SIPA1L3	19	38572930	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08		38572930	20556053	20	2205										
CEP250	11190	broad.mit.edu	37	chr20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	aggcccagagagccctagccCagagggaccaggaactggag	15	12	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.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		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	p.Q1814E	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	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	5	100	---	---	---	---	G	34091637	C	G	34091637	3	3	37	1	0	0	0	0	1	0	0	0	3252	595	21	4	5546	4	CEP250	20	34091637	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		34091637	28933883	21	2206										
MXRA5	25878	broad.mit.edu	37	chrX	3242966	3242966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.944444444444444	0	1.04938271604938	1	1	0	ctttggactgaagcacattgCacacaactgaccgccttcat	7	13	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.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		Somatic					p.A254S	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	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	9	46	---	---	---	---	A	3242966	C	A	3242966	3	1	37	1	0	0	0	0	1	0	0	0	10003	710	25	3	7738	3	MXRA5	23	3242966	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		3242966	152027594	22	2207										
NPHP4	261734	broad.mit.edu	37	chr1	5964828	5964828	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tggaaggtgaaatacacagtCtttggccatgatgttcctcg	11	8	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.chr1:5964828C>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			Somatic				NPHP4_ENST00000478423.2_5'UTR	p.K664K	NM_015102.3	NP_055917.1	WXS	Illumina GAIIx	Phase_I	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	18	124	---	---	---	---	T	5964828	C	T	5964828	2	4	38	1	0	0	0	0	0	0	0	1	10581	912	32	2		2	NPHP4	1	5964828	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		5964828	243285793	1	2208										
HP1BP3	50809	broad.mit.edu	37	chr1	21103089	21103089	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	caagaagacataactccttaCtcctttttggtttcctcaga	5	11	1	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.chr1:21103089C>G	ENST00000312239.5	-	4	490		c.e4+1		HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Splice_Site|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			Somatic				HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR		NM_016287.3	NP_057371.2	WXS	Illumina GAIIx	Phase_I	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	46	243	---	---	---	---	G	21103089	C	G	21103089	5	3	38	1	0	0	0	0	0	0	1	0	7328	579	20	4	1350	4	HP1BP3	1	21103089	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	15138261	21103089	228147532	2	2209										
HSPG2	3339	broad.mit.edu	37	chr1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ggccacagagccgctggagaTgaccctgagcagcatctcct	12	14	1	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.chr1:22216543T>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		Somatic					p.I169F	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	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	18	147	---	---	---	---	A	22216543	T	A	22216543	3	1	38	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	3	2210										
TTC4	7268	broad.mit.edu	37	chr1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	CCTGCCA	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_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)ccctgccacfs		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		Somatic				TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	p.PCH148fs	NM_004623.4	NP_004614.3	WXS	Illumina GAIIx	Phase_I	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	38	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	4	2211										
ASH1L	55870	broad.mit.edu	37	chr1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	aggccatctcaggaggaacaCtggggtaggtactcatggaa	14	8	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.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		Somatic				ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I	p.S1468I			WXS	Illumina GAIIx	Phase_I	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	35	175	---	---	---	---	A	155448258	C	A	155448258	3	1	38	1	0	0	0	0	1	0	0	0	1041	565	20	3	4595	3	ASH1L	1	155448258	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	100261371	155448258	93802363	5	2212										
FASLG	356	broad.mit.edu	37	chr1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gcagtgttcaatcttaccagTgctgatcatttatatgtcaa	7	8	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.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		Somatic				FASLG_ENST00000340030.3_3'UTR	p.S253R	NM_000639.1	NP_000630.1	WXS	Illumina GAIIx	Phase_I	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	37	208	---	---	---	---	G	172635069	T	G	172635069	3	3	38	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	6	2213										
RASAL2	9462	broad.mit.edu	37	chr1	178433459	178433461	+	In_Frame_Del	DEL	CAG	CAG	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000448150.3_In_Frame_Del_p.A1091del	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)acagca>aca		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		Somatic				RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000462775.1_In_Frame_Del_p.A961del	p.A1091del	NM_170692.2	NP_733793.2	WXS	Illumina GAIIx	Phase_I	Q9UJF2	NGAP_HUMAN			15	4084_4086	+			961					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	38	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	7	2214										
PLXNA2	5362	broad.mit.edu	37	chr1	208390820	208390820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctccttcttgtgggatggctCcaccaggatgaagaggtcat	12	10	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.chr1:208390820C>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		Somatic					p.E150K	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	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	8	274	---	---	---	---	T	208390820	C	T	208390820	3	4	38	1	0	0	0	0	1	0	0	0	12120	864	30	2	5360	2	PLXNA2	1	208390820	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	29957361	208390820	40859801	8	2215										
SNTG2	54221	broad.mit.edu	37	chr2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gccatccagcgaccacagcaGtggggcctcctctcccctct	9	19	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.chr2:1168808G>T	ENST00000308624.5	+	8	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR	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		Somatic				SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	p.S177I	NM_018968.3	NP_061841.2	WXS	Illumina GAIIx	Phase_I	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	47	335	---	---	---	---	T	1168808	G	T	1168808	3	4	38	1	0	0	0	0	1	0	0	0	14875	1029	36	3	560	3	SNTG2	2	1168808	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1168808	242030565	9	2216										
PROKR1	10887	broad.mit.edu	37	chr2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tcaactacctgcgcactgtcTctctctatgtctccaccaat	4	16	4	0	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		Somatic				PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T	p.S147T			WXS	Illumina GAIIx	Phase_I	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	8	213	---	---	---	---	A	68873392	T	A	68873392	3	1	38	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	10	2217										
MRPS9	64965	broad.mit.edu	37	chr2	105706377	105706377	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	atatatgtgatattttaacaGagacgtgattggcagcagat	10	4	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.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			Somatic						NM_182640.2	NP_872578.1	WXS	Illumina GAIIx	Phase_I	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	17	56	---	---	---	---	C	105706377	G	C	105706377	5	2	38	1	0	0	0	0	0	0	1	0	9849	956	33	4	601	4	MRPS9	2	105706377	Splice_Site	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	36832985	105706377	137492996	11	2218										
TTN	7273	broad.mit.edu	37	chr2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cgaatctttagtaatagttgTcacttcagggtttttgggcg	11	6	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.chr2:179438165T>C	ENST00000591111.1	-	276	67995	c.67771A>G	c.(67771-67773)Aca>Gca	p.T22591A	TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24232A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_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		Somatic				TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.T24232A	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	38	183	---	---	---	---	C	179438165	T	C	179438165	3	2	38	1	0	0	0	0	1	0	0	0	16732	1667	58	2	35433	2	TTN	2	179438165	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	73731788	179438165	63761208	12	2219										
NGLY1	55768	broad.mit.edu	37	chr3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tactacctttatccaattttCtagctctcgataacttttct	2	11	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.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		Somatic				NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	p.R215T	NM_001145293.1	NP_001138765.1	WXS	Illumina GAIIx	Phase_I	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	15	82	---	---	---	---	G	25792603	C	G	25792603	3	3	38	1	0	0	0	0	1	0	0	0	10398	913	32	4	1452	4	NGLY1	3	25792603	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		25792603	172229827	13	2220										
XCR1	2829	broad.mit.edu	37	chr3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ggaagtctcccagcacccagCcccagtggtatggggagatc	13	13	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.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		Somatic				XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	p.G94A	NM_001024644.1	NP_001019815.1	WXS	Illumina GAIIx	Phase_I	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	10	60	---	---	---	---	G	46063159	C	G	46063159	3	3	38	1	0	0	0	0	1	0	0	0	17422	739	26	4	724	4	XCR1	3	46063159	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	20270556	46063159	151959271	14	2221										
ITIH3	3699	broad.mit.edu	37	chr3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cgggaattacattgagcggcTctgggcctacctcaccattg	11	12	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.chr3:52836783T>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		Somatic				ITIH3_ENST00000416872.2_Intron	p.L557H	NM_002217.3	NP_002208.3	WXS	Illumina GAIIx	Phase_I	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	10	48	---	---	---	---	A	52836783	T	A	52836783	3	1	38	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	15	2222										
BOD1L	259282	broad.mit.edu	37	chr4	13601501	13601501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tcatgtctgtcaatgctggcGgaaattggcatacattctgc	10	9	4	0	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			Somatic					p.S2341S	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	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	10	53	---	---	---	---	A	13601501	G	A	13601501	2	1	38	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	16	2223										
SDAD1	55153	broad.mit.edu	37	chr4	76888458	76888458	+	Frame_Shift_Del	DEL	C	C	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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)ttgfs		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		Somatic				SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs	p.L339fs	NM_018115.2	NP_060585.2	WXS	Illumina GAIIx	Phase_I	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	38	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	17	2224										
ADAM29	11086	broad.mit.edu	37	chr4	175897499	175897499	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tgtattgcaagtggaagtcgGagaacattacgccccggatg	13	8	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.chr4:175897499G>T	ENST00000359240.3	+	5	1493	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*	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*		Somatic				ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*	p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	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	10	373	---	---	---	---	T	175897499	G	T	175897499	4	4	38	1	0	0	0	0	0	1	0	0	247	1175	41	3	825	3	ADAM29	4	175897499	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	99009041	175897499	15256777	18	2225										
CDH6	1004	broad.mit.edu	37	chr5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gaaaagggccctggagctctCtggaaacagcaaaaatgagc	12	9	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.chr5:31267702C>G	ENST00000265071.2	+	2	387	c.122C>G	c.(121-123)tCt>tGt	p.S41C	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	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		Somatic				RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	p.S41C	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	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	23	164	---	---	---	---	G	31267702	C	G	31267702	3	3	38	1	0	0	0	0	1	0	0	0	3114	913	32	4	124	4	CDH6	5	31267702	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		31267702	149647558	19	2226										
CRHBP	1393	broad.mit.edu	37	chr5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	caggttgcgagggaataggaGactttgtggagctgctggga	18	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.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		Somatic				CRHBP_ENST00000514258.1_3'UTR	p.D242Y	NM_001882.3	NP_001873.2	WXS	Illumina GAIIx	Phase_I	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	64	307	---	---	---	---	T	76259198	G	T	76259198	3	4	38	1	0	0	0	0	1	0	0	0	3870	942	33	3	746	3	CRHBP	5	76259198	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	44991496	76259198	104656062	20	2227										
CMYA5	202333	broad.mit.edu	37	chr5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gtccactttctgcagagcatGgacactgccaaagacaccct	8	14	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.chr5:79041206G>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		Somatic					p.M3632I	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	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	19	104	---	---	---	---	A	79041206	G	A	79041206	3	1	38	1	0	0	0	0	1	0	0	0	3590	1348	47	2	10910	2	CMYA5	5	79041206	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	2782008	79041206	101874054	21	2228										
LOX	4015	broad.mit.edu	37	chr5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gttgtaagggtcgtcgcccaCcatgccgtccacgcggctgg	14	14	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.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		Somatic					p.V167M	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	WXS	Illumina GAIIx	Phase_I	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	26	133	---	---	---	---	T	121413182	C	T	121413182	3	4	38	1	0	0	0	0	1	0	0	0	8898	507	18	2	782	2	LOX	5	121413182	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	42371976	121413182	59502078	22	2229										
TNXB	7148	broad.mit.edu	37	chr6	32023935	32023935	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctgagttccgtggggctgggGgtctcttcctctgcagctga	15	11	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.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			Somatic				TNXB_ENST00000375247.2_Silent_p.T2720T	p.T2720T			WXS	Illumina GAIIx	Phase_I	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	9	66	---	---	---	---	T	32023935	G	T	32023935	2	4	38	1	0	0	0	0	0	0	0	1	16343	1219	43	1		1	TNXB	6	32023935	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		32023935	139091132	23	2230										
MDGA1	266727	broad.mit.edu	37	chr6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tggggccgcaggttcttcagCttcaggaccttggtctcccc	12	14	4	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.chr6:37622688C>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																																						ENST00000297153.7																			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		Somatic				MDGA1_ENST00000434837.3_Missense_Mutation_p.K200N|MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N	p.K200N			WXS	Illumina GAIIx	Phase_I	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	15	82	---	---	---	---	G	37622688	C	G	37622688	3	3	38	1	0	0	0	0	1	0	0	0	9406	796	28	4	2319	4	MDGA1	6	37622688	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5598753	37622688	133492379	24	2231										
FAM83B	222584	broad.mit.edu	37	chr6	54735287	54735287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	acagcacatggtactgatgaTtcctgtgatgataccttatc	8	9	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.chr6:54735287T>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			Somatic					p.D81D	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	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	53	329	---	---	---	---	C	54735287	T	C	54735287	2	2	38	1	0	0	0	0	0	0	0	1	5634	1490	52	2		2	FAM83B	6	54735287	Silent	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	17112599	54735287	116379780	25	2232										
FUT9	10690	broad.mit.edu	37	chr6	96651187	96651187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tctgtgctgaaaatgaaaaaCttcttttccaccaaaactga	5	9	2	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			Somatic					p.N52N	NM_006581.3	NP_006572.2	WXS	Illumina GAIIx	Phase_I	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	33	163	---	---	---	---	T	96651187	C	T	96651187	2	4	38	1	0	0	0	0	0	0	0	1	6111	564	20	2		2	FUT9	6	96651187	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	41915900	96651187	74463880	26	2233										
TIAM2	26230	broad.mit.edu	37	chr6	155451342	155451342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	acatgggcacgcatgccagcCtgagcaaccgtgtctctttt	10	13	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.chr6:155451342C>T	ENST00000461783.3	+	6	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|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			Somatic				TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L	p.L329L			WXS	Illumina GAIIx	Phase_I	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	15	88	---	---	---	---	T	155451342	C	T	155451342	2	4	38	1	0	0	0	0	0	0	0	1	15888	680	24	2		2	TIAM2	6	155451342	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	58800155	155451342	15663725	27	2234										
UNC93A	54346	broad.mit.edu	37	chr6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	acatgcagagaaggcgggaaAgcgtggcaaagacatggtga	16	6	0	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.chr6:167709633A>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		Somatic				UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M	p.K128M	NM_018974.3	NP_061847.2	WXS	Illumina GAIIx	Phase_I	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	30	219	---	---	---	---	T	167709633	A	T	167709633	3	4	38	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	12258291	167709633	3405434	28	2235										
SDK1	221935	broad.mit.edu	37	chr7	3681627	3681627	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gatacggaccagaggaaaacAgtttctcaaggacgtgcagc	12	9	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.chr7:3681627A>T	ENST00000404826.2	+	4	742	c.603A>T	c.(601-603)acA>acT	p.T201T	SDK1_ENST00000389531.3_Silent_p.T201T|AC011284.3_ENST00000427920.1_RNA	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			Somatic				SDK1_ENST00000389531.3_Silent_p.T201T	p.T201T	NM_152744.3	NP_689957.3	WXS	Illumina GAIIx	Phase_I	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	7	203	---	---	---	---	T	3681627	A	T	3681627	2	4	38	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	29	2236										
EGFR	1956	broad.mit.edu	37	chr7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	caaggaagccaagccaaatgGcatctttaagggctccacag	10	11	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.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)	Somatic				EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron	p.G1185V	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	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	9	74	---	---	---	---	T	55273231	G	T	55273231	3	4	38	1	0	0	0	0	1	0	0	0	4967	1203	42	3	3928	3	EGFR	7	55273231	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	51591604	55273231	103865432	30	2237										
CTTNBP2	83992	broad.mit.edu	37	chr7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cagcgttactgggaagtgggGgtgtgctactggttggatct	17	6	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.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		Somatic					p.P399L	NM_033427.2	NP_219499.1	WXS	Illumina GAIIx	Phase_I	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	92	272	---	---	---	---	A	117432054	G	A	117432054	3	1	38	1	0	0	0	0	1	0	0	0	4045	1232	43	2	3875	2	CTTNBP2	7	117432054	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	62158823	117432054	41706609	31	2238										
ARHGEF10	9639	broad.mit.edu	37	chr8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gctgaagaacacctccaaagGccaccccgacaggctgcctc	9	17	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.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_ENST00000262112.6_Missense_Mutation_p.G584D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.G583D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|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		Somatic				ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D	p.G583D			WXS	Illumina GAIIx	Phase_I	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	43	221	---	---	---	---	A	1851472	G	A	1851472	3	1	38	1	0	0	0	0	1	0	0	0	894	1203	42	2	1734	2	ARHGEF10	8	1851472	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1851472	144512550	32	2239										
ZCCHC7	84186	broad.mit.edu	37	chr9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctgatgaagacagtatttatAgatgtaaaggaaagaatgtt	10	2	0	5	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_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron	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		Somatic				ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR	p.R102G	NM_032226.2	NP_115602.2	WXS	Illumina GAIIx	Phase_I	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	13	448	---	---	---	---	G	37126633	A	G	37126633	3	3	38	1	0	0	0	0	1	0	0	0	17590	412	15	2	306	2	ZCCHC7	9	37126633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		37126633	104086798	33	2240										
HSDL2	84263	broad.mit.edu	37	chr9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gtgtagaaaagttgatatcaTtgcagatgcagcatattcca	9	6	1	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.chr9:115200783T>C	ENST00000398805.3	+	7	898	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|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		Somatic				HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T	p.I224T	NM_032303.4	NP_115679.2	WXS	Illumina GAIIx	Phase_I	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	21	126	---	---	---	---	C	115200783	T	C	115200783	3	2	38	1	0	0	0	0	1	0	0	0	7394	1493	52	2	697	2	HSDL2	9	115200783	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	78074150	115200783	26012648	34	2241										
GAPVD1	26130	broad.mit.edu	37	chr9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	TGCGC	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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_ENST00000470056.1_Frame_Shift_Del_p.MR1140fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs			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)atgcgcfs		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		Somatic				GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs	p.MR1140fs			WXS	Illumina GAIIx	Phase_I	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	38	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	35	2242										
LCN2	3934	broad.mit.edu	37	chr9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cctcccaaggaaaaagaagtGtgactactggatcaggactt	10	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.chr9:130913928G>A	ENST00000373017.1	+	4	524	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000540948.1_Missense_Mutation_p.C96Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|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		Somatic				LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR	p.C96Y			WXS	Illumina GAIIx	Phase_I	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	21	117	---	---	---	---	A	130913928	G	A	130913928	3	1	38	1	0	0	0	0	1	0	0	0	8684	1377	48	2	297	2	LCN2	9	130913928	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	2800846	130913928	10299503	36	2243										
NEUROG3	50674	broad.mit.edu	37	chr10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gcgtccagtgccgagttgagGttgtgcattcgattgcgctc	14	10	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.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		Somatic					p.N98K	NM_020999.3	NP_066279.2	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	T	71332506	G	T	71332506	3	4	38	1	0	0	0	0	1	0	0	0	10354	1252	44	3	354	3	NEUROG3	10	71332506	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		71332506	64202241	37	2244										
SLC43A3	29015	broad.mit.edu	37	chr11	57182087	57182087	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctgccctcccccgcatctcaCctgtctttcttgcttccttc	4	20	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.chr11:57182087C>A	ENST00000395123.2	-	11	1365		c.e11+1		SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site|SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000528098.1_5'Flank	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			Somatic				SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site		NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	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	19	253	---	---	---	---	A	57182087	C	A	57182087	5	1	38	1	0	0	0	0	0	0	1	0	14634	521	18	3	430	3	SLC43A3	11	57182087	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		57182087	77824429	38	2245										
MPEG1	219972	broad.mit.edu	37	chr11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ttggaggaaggaggccctgaGgtggtcctcctgaataagag	16	7	0	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.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		Somatic					p.L221F	NM_001039396.1	NP_001034485.1	WXS	Illumina GAIIx	Phase_I	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	12	98	---	---	---	---	A	58979678	G	A	58979678	3	1	38	1	0	0	0	0	1	0	0	0	9723	1000	35	2	1493	2	MPEG1	11	58979678	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	1797591	58979678	76026838	39	2246										
ART4	420	broad.mit.edu	37	chr12	14993378	14993378	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctcaatttagataaagaataCcttttagcagctgacagtta	6	7	1	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.chr12:14993378C>A	ENST00000228936.4	-	2	1235		c.e2+1		RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	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			Somatic				C12orf60_ENST00000527783.1_Intron		NM_021071.2	NP_066549.2	WXS	Illumina GAIIx	Phase_I	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	17	109	---	---	---	---	A	14993378	C	A	14993378	5	1	38	1	0	0	0	0	0	0	1	0	999	521	18	3	98	3	ART4	12	14993378	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		14993378	118858517	40	2247										
MLL2	8085	broad.mit.edu	37	chr12	49443872	49443872	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cttgcattcggggtagacctCcataggggtcacaggggcca	14	11	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.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*		Somatic					p.E1167*	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	28	148	---	---	---	---	A	49443872	C	A	49443872	4	1	38	1	0	0	0	0	0	1	0	0	9621	864	30	3	13290	3	MLL2	12	49443872	Nonsense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	34450494	49443872	84408023	41	2248										
MON2	23041	broad.mit.edu	37	chr12	62946846	62946846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	aaattgggtgaactatgtgtGgatccccgtcctgctgtcag	12	9	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.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_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000552115.1_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			Somatic				MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393632.2_Silent_p.V1034V|MON2_ENST00000552115.1_Silent_p.V1034V	p.V1035V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina GAIIx	Phase_I	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	8	326	---	---	---	---	A	62946846	G	A	62946846	2	1	38	1	0	0	0	0	0	0	0	1	9700	1335	47	2		2	MON2	12	62946846	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	13502974	62946846	70905049	42	2249										
HELB	92797	broad.mit.edu	37	chr12	66725338	66725338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ttatcttcacctgatggagtAgatacagatgatgatttacc	8	7	2	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.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			Somatic					p.V1025V	NM_033647.3	NP_387467.2	WXS	Illumina GAIIx	Phase_I	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	26	133	---	---	---	---	G	66725338	A	G	66725338	2	3	38	1	0	0	0	0	0	0	0	1	7045	407	15	2		2	HELB	12	66725338	Silent	SNP	A	TCGA-EJ-5495-01A-01D-1576-08	3778492	66725338	67126557	43	2250										
XPO4	64328	broad.mit.edu	37	chr13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ttgaacttgaaaattcactcAatagcgcagtcagaatagaa	7	7	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.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		Somatic				XPO4_ENST00000255305.6_Missense_Mutation_p.L164W	p.L164W	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	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	32	165	---	---	---	---	C	21417991	A	C	21417991	3	2	38	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	44	2251										
C14orf166B	145497	broad.mit.edu	37	chr14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	agcctggtggagatgctacaAgagaactactacctccagga	11	10	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.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		Somatic				C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR	p.Q158H	NM_194287.2	NP_919263.2	WXS	Illumina GAIIx	Phase_I	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	8	20	---	---	---	---	T	77302633	A	T	77302633	3	4	38	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	45	2252										
DYNC1H1	1778	broad.mit.edu	37	chr14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	accactctggagaacctgaaGagagaggctgcagaggtcac	13	10	2	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.chr14:102505453G>T	ENST00000360184.4	+	60	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_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		Somatic				RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	p.K3774N	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	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	21	130	---	---	---	---	T	102505453	G	T	102505453	3	4	38	1	0	0	0	0	1	0	0	0	4841	933	33	3	11560	3	DYNC1H1	14	102505453	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	25202820	102505453	4844087	46	2253										
OR4M2	390538	broad.mit.edu	37	chr15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ccatctacatttatgctcgcCcatttgactcgttttcccta	4	14	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.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		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.P263T	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	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	39	616	---	---	---	---	A	22369362	C	A	22369362	3	1	38	1	0	0	0	0	1	0	0	0	11076	623	22	1	789	1	OR4M2	15	22369362	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		22369362	80162030	47	2254										
SGK269	79834	broad.mit.edu	37	chr15	77407550	77407566	+	Frame_Shift_Del	DEL	CAGCAAGGAAATGACCA	CAGCAAGGAAATGACCA	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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)tgtggtcatttccttgctgaafs		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		Somatic				PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs	p.CGHFLAE1391fs			WXS	Illumina GAIIx	Phase_I	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	38	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	55038188	77407550	25123842	48	2255										
GPR139	124274	broad.mit.edu	37	chr16	20043984	20043984	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gagaggatgatcactgtcaaGatatttgctgtggagagaag	14	4	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.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			Somatic					p.I45I	NM_001002911.2	NP_001002911.1	WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	T	20043984	G	T	20043984	2	4	38	1	0	0	0	0	0	0	0	1	6648	932	33	3		3	GPR139	16	20043984	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		20043984	70310769	49	2256										
GSG1L	146395	broad.mit.edu	37	chr16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	agtgccccaagacccagcacTgtcggttcagctctggtgct	11	14	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.chr16:27802719T>G	ENST00000447459.2	-	7	1052	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	GSG1L_ENST00000380898.2_Missense_Mutation_p.Q186P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P	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		Somatic				GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P	p.Q186P			WXS	Illumina GAIIx	Phase_I	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	14	96	---	---	---	---	G	27802719	T	G	27802719	3	3	38	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	50	2257										
VPS35	55737	broad.mit.edu	37	chr16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	taacaaaaatatataaacctGtttgtaacgttccacattta	3	7	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.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		Somatic				VPS35_ENST00000568642.1_5'UTR	p.Q240E	NM_018206.4	NP_060676.2	WXS	Illumina GAIIx	Phase_I	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	39	188	---	---	---	---	C	46712857	G	C	46712857	3	2	38	1	0	0	0	0	1	0	0	0	17200	1386	48	4	1720	4	VPS35	16	46712857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	18910138	46712857	43641896	51	2258										
GLOD4	51031	broad.mit.edu	37	chr17	674590	674590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tatcagcatagcccagcaaaGccctttgcttttcttcatct	5	13	4	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.chr17:674590G>A	ENST00000301328.5	-	6	586	c.563C>T	c.(562-564)gCt>gTt	p.A188V	GLOD4_ENST00000301329.6_Missense_Mutation_p.A173V|GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V			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		Somatic				GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V	p.A173V	NM_016080.3	NP_057164.3	WXS	Illumina GAIIx	Phase_I	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	51	396	---	---	---	---	A	674590	G	A	674590	3	1	38	1	0	0	0	0	1	0	0	0	6450	971	34	2	398	2	GLOD4	17	674590	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		674590	80520620	52	2259										
DNAH2	146754	broad.mit.edu	37	chr17	7673934	7673934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ctcgacatagtaccctacaaGgataagggccatcatcggct	9	12	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.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			Somatic				DNAH2_ENST00000389173.2_Silent_p.K1386K	p.K1386K			WXS	Illumina GAIIx	Phase_I	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	42	182	---	---	---	---	A	7673934	G	A	7673934	2	1	38	1	0	0	0	0	0	0	0	1	4602	991	35	2		2	DNAH2	17	7673934	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	6999344	7673934	73521276	53	2260										
ANKRD13B	124930	broad.mit.edu	37	chr17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ccgtgtgctcctggcgcacgGcgcagacgtgggcagggaga	18	12	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.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		Somatic				RP11-68I3.2_ENST00000581474.1_RNA	p.G71D	NM_152345.4	NP_689558.4	WXS	Illumina GAIIx	Phase_I	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	16	72	---	---	---	---	A	27934857	G	A	27934857	3	1	38	1	0	0	0	0	1	0	0	0	642	1203	42	2	218	2	ANKRD13B	17	27934857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	20260923	27934857	53260353	54	2261										
MED13	9969	broad.mit.edu	37	chr17	60140573	60140573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	cgactaaaactgctcaaaatGgggtcttcttctgtcacagg	9	10	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.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			Somatic					p.P52P	NM_005121.2	NP_005112.2	WXS	Illumina GAIIx	Phase_I	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	67	287	---	---	---	---	A	60140573	G	A	60140573	2	1	38	1	0	0	0	0	0	0	0	1	9430	1335	47	2		2	MED13	17	60140573	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	32205716	60140573	21054637	55	2262										
NPTX1	4884	broad.mit.edu	37	chr17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tgatccgctggtgcagggagGtcagggcggtctcgatcttg	17	9	3	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		Somatic				NPTX1_ENST00000575212.1_5'UTR	p.T206N	NM_002522.3	NP_002513.2	WXS	Illumina GAIIx	Phase_I	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	6	46	---	---	---	---	T	78449346	G	T	78449346	3	4	38	1	0	0	0	0	1	0	0	0	10602	1261	44	3	697	3	NPTX1	17	78449346	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	18308773	78449346	2745864	56	2263										
EPB41L3	23136	broad.mit.edu	37	chr18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	acgtaagcccaaagtagtctTtctctagcaagttcaagtgt	8	9	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.chr18:5445182T>G	ENST00000341928.2	-	4	783	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_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		Somatic				EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T	p.K148T	NM_012307.2	NP_036439.2	WXS	Illumina GAIIx	Phase_I	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	48	278	---	---	---	---	G	5445182	T	G	5445182	3	3	38	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	57	2264										
SETBP1	26040	broad.mit.edu	37	chr18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	agaaagcatttgacaatacaGaagggaaaagggaaggttat	12	3	0	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		Somatic					p.E366K	NM_015559.2	NP_056374.2	WXS	Illumina GAIIx	Phase_I	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	33	149	---	---	---	---	A	42530401	G	A	42530401	3	1	38	1	0	0	0	0	1	0	0	0	14129	943	33	2	1299	2	SETBP1	18	42530401	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	37085219	42530401	35546847	58	2265										
PIP5K1C	23396	broad.mit.edu	37	chr19	3643243	3643243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	tgcggatgcctcgcccacctGtaccgcggctgctccgacgt	12	17	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.chr19:3643243G>A	ENST00000335312.3	-	13	1735	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_ENST00000589578.1_Silent_p.Y549Y|PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	64	---	---	---	---	A	3643243	G	A	3643243	2	1	38	1	0	0	0	0	0	0	0	1	11941	1372	48	2		2	PIP5K1C	19	3643243	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		3643243	55485740	59	2266										
BCKDHA	593	broad.mit.edu	37	chr19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gcctggggctcggggactggCtagatctgtgagtacctggg	18	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.chr19:41903833C>A	ENST00000269980.2	+	1	469	c.101C>A	c.(100-102)gCt>gAt	p.A34D	EXOSC5_ENST00000221233.4_5'Flank|CTC-435M10.10_ENST00000598988.1_RNA|EXOSC5_ENST00000596905.1_5'Flank|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_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		Somatic				BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Intron	p.A34D	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	WXS	Illumina GAIIx	Phase_I	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	6	57	---	---	---	---	A	41903833	C	A	41903833	3	1	38	1	0	0	0	0	1	0	0	0	1359	797	28	3	103	3	BCKDHA	19	41903833	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	38260590	41903833	17225150	60	2267										
ATP1A3	478	broad.mit.edu	37	chr19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ggccaggatctcctgggcttTgctgtgggtcaaaccctgag	14	11	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.chr19:42492276T>C	ENST00000302102.5	-	4	319	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K70E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E	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		Somatic				ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E	p.K70E	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	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	20	113	---	---	---	---	C	42492276	T	C	42492276	3	2	38	1	0	0	0	0	1	0	0	0	1130	1821	63	2	2952	2	ATP1A3	19	42492276	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	588443	42492276	16636707	61	2268										
GLTSCR1	29998	broad.mit.edu	37	chr19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gacccacaggccctcaatgaCttcttgcatggatccgagaa	9	13	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		Somatic				CTD-2571L23.8_ENST00000599924.1_lincRNA	p.D21E	NM_015711.3	NP_056526.3	WXS	Illumina GAIIx	Phase_I	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	28	132	---	---	---	---	A	48176998	C	A	48176998	3	1	38	1	0	0	0	0	1	0	0	0	6474	564	20	3	69	3	GLTSCR1	19	48176998	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5684722	48176998	10951985	62	2269										
ZNF616	90317	broad.mit.edu	37	chr19	52619794	52619794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	atttgtaaggtttctctgtaGtatgtatcctctgatgatta	8	5	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.chr19:52619794G>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		Somatic				ZNF616_ENST00000330123.5_3'UTR	p.T208S	NM_178523.3	NP_848618.2	WXS	Illumina GAIIx	Phase_I	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	6	294	---	---	---	---	C	52619794	G	C	52619794	3	2	38	1	0	0	0	0	1	0	0	0	18038	1029	36	4	1726	4	ZNF616	19	52619794	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	4442796	52619794	6509189	63	2270										
ZNF17	7565	broad.mit.edu	37	chr19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	atcagaaagttcacactggaGaaaggcctttttattgctgt	9	7	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.chr19:57931923G>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		Somatic				ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron	p.E357K			WXS	Illumina GAIIx	Phase_I	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	42	187	---	---	---	---	A	57931923	G	A	57931923	3	1	38	1	0	0	0	0	1	0	0	0	17740	943	33	2	1073	2	ZNF17	19	57931923	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5312129	57931923	1197060	64	2271										
STK35	140901	broad.mit.edu	37	chr20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gagtcacggcaacaagagctCgcagctttacctgcgcctgg	12	13	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.chr20:2083973C>T	ENST00000381482.3	+	2	1125	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_ENST00000246032.3_Missense_Mutation_p.S152L|STK35_ENST00000400064.3_Missense_Mutation_p.S113L			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		Somatic				STK35_ENST00000400064.3_Missense_Mutation_p.S113L|STK35_ENST00000246032.3_Missense_Mutation_p.S152L	p.S285L			WXS	Illumina GAIIx	Phase_I	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	6	63	---	---	---	---	T	2083973	C	T	2083973	3	4	38	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	65	2272										
ZNF341	84905	broad.mit.edu	37	chr20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gtgcggtgggcgcggaaactGagctggtggtacctggacac	18	9	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.chr20:32379198G>T	ENST00000375200.1	+	15	2805	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	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*	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*		Somatic				RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000423074.1_RNA	p.E814*	NM_001282933.1	NP_001269862.1	WXS	Illumina GAIIx	Phase_I	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	7	69	---	---	---	---	T	32379198	G	T	32379198	4	4	38	1	0	0	0	0	0	1	0	0	17854	1291	45	3	2477	3	ZNF341	20	32379198	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	30295225	32379198	30646322	66	2273										
DSCAM	1826	broad.mit.edu	37	chr21	41424003	41424003	+	Frame_Shift_Del	DEL	A	A	-													0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	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)gctfs		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		Somatic					p.A1689fs	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina GAIIx	Phase_I	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	38	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		41424003	6705892	67	2274										
APOL1	8542	broad.mit.edu	37	chr22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gctccgtgcccttgcagatgGggttcagaaggtccacaaag	13	11	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.chr22:36661373G>T	ENST00000397278.3	+	6	720	c.491G>T	c.(490-492)gGg>gTg	p.G164V	APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000319136.4_Missense_Mutation_p.G180V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V	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		Somatic				APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V	p.G180V	NM_145343.2	NP_663318.1	WXS	Illumina GAIIx	Phase_I	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	39	215	---	---	---	---	T	36661373	G	T	36661373	3	4	38	1	0	0	0	0	1	0	0	0	805	1232	43	1	561	1	APOL1	22	36661373	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		36661373	14643193	68	2275										
TBC1D22A	25771	broad.mit.edu	37	chr22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	gtgcagagcaagtgcaccggCacctggaccaacacgaagtg	13	12	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.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_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y	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		Somatic				TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y	p.H406Y	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	WXS	Illumina GAIIx	Phase_I	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	17	110	---	---	---	---	T	47432981	C	T	47432981	3	4	38	1	0	0	0	0	1	0	0	0	15608	710	25	2	1258	2	TBC1D22A	22	47432981	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	10771608	47432981	3871585	69	2276										
MAGEA11	4110	broad.mit.edu	37	chrX	148798036	148798036	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	6	1	1.41432360742706	2.56346153846154	0.976556776556777	1	1	0	ccttgtcacctccctcaaccTctcttatgatggcatacagt	5	15	3	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.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		Somatic				MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	p.L297H	NM_005366.4	NP_005357.2	WXS	Illumina GAIIx	Phase_I	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	56	78	---	---	---	---	A	148798036	T	A	148798036	3	1	38	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	70	2277										
ARID1A	8289	broad.mit.edu	37	chr1	27106761	27106761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gtcttggaaaccctcagcaaActcagcatccaggacaacaa	7	13	3	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.chr1:27106761A>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			Somatic				ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000457599.2_Silent_p.K1907K	p.K2124K	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	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	37	141	---	---	---	---	G	27106761	A	G	27106761	2	3	39	1	0	0	0	0	0	0	0	1	913	40	2	2		2	ARID1A	1	27106761	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08		27106761	222143860	1	2278										
EPB41	2035	broad.mit.edu	37	chr1	29314300	29314300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ggaggtcagaaagagatagaAtttggaaccagtcttgatga	13	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.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR	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			Somatic				EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000356093.2_Silent_p.E117E	p.E117E	NM_001166005.1	NP_001159477.1	WXS	Illumina GAIIx	Phase_I	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	8	286	---	---	---	---	G	29314300	A	G	29314300	2	3	39	1	0	0	0	0	0	0	0	1	5151	98	4	2		2	EPB41	1	29314300	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	2207539	29314300	219936321	2	2279										
DMBX1	127343	broad.mit.edu	37	chr1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ctgtggccccagggggtggcCtcctgggcccctcccactcc	13	19	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		Somatic				DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	p.L249F	NM_147192.2	NP_671725.1	WXS	Illumina GAIIx	Phase_I	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	59	289	---	---	---	---	T	46977762	C	T	46977762	3	4	39	1	0	0	0	0	1	0	0	0	4578	681	24	2	759	2	DMBX1	1	46977762	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	17663462	46977762	202272859	3	2280										
FCGR3B	2214	broad.mit.edu	37	chr1	161596188	161596188	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	cgaggggcctggagcaacagCcagcctgaaagacacagaga	14	11	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.chr1:161596188C>A	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR3B_ENST00000294800.3_Missense_Mutation_p.W108C			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W108C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	GGAGCAACAGCCAGCCTGAAA	0.567																																						ENST00000294800.3																			1	Substitution - Missense(1)	p.W108C(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(322-324)tgG>tgT		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	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)						36	40	38					1																	161596188		2189	4299	6488	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596188C>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3969G>T	1.37:g.161596188C>A			Somatic				FCGR3B_ENST00000531221.1_Missense_Mutation_p.W144C|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.W108C|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron	p.W108C	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	WXS	Illumina GAIIx	Phase_I	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	597	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		108					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.324G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	17.92|17.92	3.506557|3.506557	0.64410|0.64410	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000421702|ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776	.|T;T;T;T	.|0.11385	.|2.78;2.78;2.78;3.99	2.47|2.47	2.47|2.47	0.30058|0.30058	.|.	.|0.000000	.|0.48767	.|D	.|0.000168	T|T	0.27559|0.27559	0.0677|0.0677	M|M	0.92317|0.92317	3.295|3.295	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.13255|0.13255	-1.0516|-1.0516	5|10	.|0.87932	.|D	.|0	.|.	8.4977|8.4977	0.33138|0.33138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108	.|O75015	.|FCG3B_HUMAN	S|C	129|108;108;144;91	.|ENSP00000356941:W108C;ENSP00000294800:W108C;ENSP00000433642:W144C;ENSP00000437084:W91C	.|ENSP00000294800:W108C	A|W	-|-	1|3	0|0	FCGR3B|FCGR3B	159862812|159862812	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.830000|0.830000	0.47004|0.47004	3.517000|3.517000	0.53443|0.53443	1.383000|1.383000	0.46405|0.46405	0.393000|0.393000	0.25936|0.25936	GCT|TGG		0.567	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		3	50	3	50	---	---	---	---	A	161596188	C	A	161596188	1	1	39	0	1	0	0	0	0	0	0	0	5785	740	26	3		3	FCGR3B	1	161596188	Intron	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	114618426	161596188	87654433	4	2281										
NBAS	51594	broad.mit.edu	37	chr2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	atctgctcctttccctattgCtaaaagagcctccaggtctg	7	13	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.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		Somatic				NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	p.A617T	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	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	52	254	---	---	---	---	T	15608534	C	T	15608534	3	4	39	1	0	0	0	0	1	0	0	0	10186	797	28	2	5410	2	NBAS	2	15608534	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		15608534	227590839	5	2282										
OSBPL10	114884	broad.mit.edu	37	chr3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gtgaactctaaagtaccattCcattccccatgggctttaca	6	12	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.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*		Somatic				OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	p.W659*	NM_017784.4	NP_060254.2	WXS	Illumina GAIIx	Phase_I	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	72	242	---	---	---	---	T	31710253	C	T	31710253	4	4	39	1	0	0	0	0	0	1	0	0	11275	856	30	2	329	2	OSBPL10	3	31710253	Nonsense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		31710253	166312177	6	2283										
ACOX3	8310	broad.mit.edu	37	chr4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gaagatcttttgaatatatgTgagatgtctttcagaaccag	9	5	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.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		Somatic				ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	p.T142A	NM_003501.2	NP_003492.2	WXS	Illumina GAIIx	Phase_I	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	4	109	---	---	---	---	C	8416610	T	C	8416610	3	2	39	1	0	0	0	0	1	0	0	0	160	1696	59	2	1738	2	ACOX3	4	8416610	Missense_Mutation	SNP	T	TCGA-EJ-5496-01A-01D-1576-08		8416610	182737666	7	2284										
LIMCH1	22998	broad.mit.edu	37	chr4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ccaatcccatgaaatacctgCggcaacagtcactgcctcca	6	16	1	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_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W	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		Somatic				LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W	p.R490W	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	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	10	408	---	---	---	---	T	41648713	C	T	41648713	3	4	39	1	0	0	0	0	1	0	0	0	8797	759	27	2	1542	2	LIMCH1	4	41648713	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	33232103	41648713	149505563	8	2285										
LPHN3	23284	broad.mit.edu	37	chr4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gcgtacaatgacaggttattGgtcaacacaaggctgtcggc	12	9	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.chr4:62813888G>T	ENST00000514591.1	+	16	2824	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000512091.2_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_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																																						ENST00000512091.2																			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		Somatic				LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L	p.W832L			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			16	3242	+						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	14	57	---	---	---	---	T	62813888	G	T	62813888	3	4	39	1	0	0	0	0	1	0	0	0	8917	1357	47	1	2549	1	LPHN3	4	62813888	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	21165175	62813888	128340388	9	2286										
SULT1E1	6783	broad.mit.edu	37	chr4	70721017	70721017	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ttaaaatcaacttgaacgttAccattcatgaggttttcttt	5	7	3	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.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			Somatic						NM_005420.2	NP_005411.1	WXS	Illumina GAIIx	Phase_I	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	10	74	---	---	---	---	T	70721017	A	T	70721017	5	4	39	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	10	2287										
KIAA1109	84162	broad.mit.edu	37	chr4	123192755	123192755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gactctgattcaattacagtGtcagaacaaagtgagccttc	8	9	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.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			Somatic				KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V	p.V2692V			WXS	Illumina GAIIx	Phase_I	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	5	89	---	---	---	---	A	123192755	G	A	123192755	2	1	39	1	0	0	0	0	0	0	0	1	8208	1364	48	2		2	KIAA1109	4	123192755	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	52471738	123192755	67961521	11	2288										
ASB5	140458	broad.mit.edu	37	chr4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ttccttgcggttgcctttcaCtatgtagaaatgactgagga	10	8	1	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.chr4:177190130C>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		Somatic					p.V44L	NM_080874.3	NP_543150.1	WXS	Illumina GAIIx	Phase_I	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	7	128	---	---	---	---	G	177190130	C	G	177190130	3	3	39	1	0	0	0	0	1	0	0	0	1026	565	20	4	887	4	ASB5	4	177190130	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	53997375	177190130	13964146	12	2289										
RWDD4A	201965	broad.mit.edu	37	chr4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ccagcctcgaggaagttctcCtttgtgatctagaagataaa	9	9	2	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.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R	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		Somatic				RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R|RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R	p.G164R	NM_152682.2	NP_689895.2	WXS	Illumina GAIIx	Phase_I	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	8	254	---	---	---	---	G	184567682	C	G	184567682	3	3	39	1	0	0	0	0	1	0	0	0	13758	690	24	4	84	4	RWDD4A	4	184567682	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	7377552	184567682	6586594	13	2290										
IRX1	79192	broad.mit.edu	37	chr5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ccacctggttcgccaacgcgCgccggcgcctcaagaaggag	13	16	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.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		Somatic				CTD-2012M11.3_ENST00000559410.1_RNA	p.R182C	NM_024337.3	NP_077313.3	WXS	Illumina GAIIx	Phase_I	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	22	124	---	---	---	---	T	3599606	C	T	3599606	3	4	39	1	0	0	0	0	1	0	0	0	7843	768	27	2	550	2	IRX1	5	3599606	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		3599606	177315654	14	2291										
FAM169A	26049	broad.mit.edu	37	chr5	74091853	74091853	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	tgctgaataagtgatctcatAccttttcaccatcttgcttc	5	11	3	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.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			Somatic				FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site		NM_015566.2	NP_056381.1	WXS	Illumina GAIIx	Phase_I	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	5	371	---	---	---	---	G	74091853	A	G	74091853	5	3	39	1	0	0	0	0	0	0	1	0	5487	405	14	2	762	2	FAM169A	5	74091853	Splice_Site	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	70492247	74091853	106823407	15	2292										
TRIM36	55521	broad.mit.edu	37	chr5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ggtgttcattattatagccaCatttttcatcaaagaggaag	8	6	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.chr5:114466559C>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		Somatic				TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y	p.C509Y			WXS	Illumina GAIIx	Phase_I	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	25	119	---	---	---	---	T	114466559	C	T	114466559	3	4	39	1	0	0	0	0	1	0	0	0	16507	478	17	2	632	2	TRIM36	5	114466559	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	40374706	114466559	66448701	16	2293										
C5orf48	389320	broad.mit.edu	37	chr5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	agatacttgtcctactttgcCtaaactcactaacaactgct	4	12	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.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		Somatic					p.P12R	NM_207408.1	NP_997291.1	WXS	Illumina GAIIx	Phase_I	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	5	170	---	---	---	---	G	125967461	C	G	125967461	3	3	39	1	0	0	0	0	1	0	0	0	2306	681	24	4	37	4	C5orf48	5	125967461	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	11500902	125967461	54947799	17	2294										
NSD1	64324	broad.mit.edu	37	chr5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	aacattctgcagatgagaagGaaaagccttgcgctaaatct	9	8	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.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)	Somatic				NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K	p.E491K	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	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	29	115	---	---	---	---	A	176636871	G	A	176636871	3	1	39	1	0	0	0	0	1	0	0	0	10669	1175	41	2	1485	2	NSD1	5	176636871	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	50669410	176636871	4278389	18	2295										
FRMD1	79981	broad.mit.edu	37	chr6	168461475	168461475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	cgtgtgctggggtggctgcgGctggtcctggggctggagga	22	8	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.chr6:168461475G>T	ENST00000283309.6	-	9	1372	c.1308C>A	c.(1306-1308)agC>agA	p.S436R	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R|FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	436						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)		GGTGGCTGCGGCTGGTCCTGG	0.662																																					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.(1306-1308)agC>agA		FERM domain containing 1							36	35	35					6																	168461475		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168461475G>T		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.1308C>A	6.37:g.168461475G>T	ENSP00000283309:p.Ser436Arg		Somatic				FRMD1_ENST00000537786.1_Missense_Mutation_p.S207R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.S368R	p.S436R	NM_024919.3	NP_079195.3	WXS	Illumina GAIIx	Phase_I	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	1372	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	436					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1308C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338867	0.41398	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.46819	0.86;0.86;0.86	2.48	1.6	0.23607	.	1.003710	0.08045	U	0.995776	T	0.39517	0.1081	L	0.36672	1.1	0.41473	D	0.988114	D;D;B;D	0.89917	1.0;1.0;0.095;1.0	D;D;B;D	0.76071	0.987;0.987;0.056;0.987	T	0.48811	-0.9002	10	0.16896	T	0.51	.	9.4483	0.38710	0.1106:0.0:0.8894:0.0	.	371;436;368;331	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	R	436;368;207	ENSP00000283309:S436R;ENSP00000414115:S368R;ENSP00000440078:S207R	ENSP00000283309:S436R	S	-	3	2	FRMD1	168204324	1.000000	0.71417	0.031000	0.17742	0.010000	0.07245	4.281000	0.58965	0.380000	0.24823	-0.657000	0.03884	AGC		0.662	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		3	36	3	36	---	---	---	---	T	168461475	G	T	168461475	3	4	39	1	0	0	0	0	1	0	0	0	6049	1194	42	3	353	3	FRMD1	6	168461475	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		168461475	2653592	19	2296										
ZNRF2	223082	broad.mit.edu	37	chr7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	taaatagatcttgccctgagCacccttcagattaagcgtca	7	11	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.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		Somatic					p.H239N	NM_147128.3	NP_667339.1	WXS	Illumina GAIIx	Phase_I	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	19	106	---	---	---	---	A	30402036	C	A	30402036	3	1	39	1	0	0	0	0	1	0	0	0	18209	710	25	3	729	3	ZNRF2	7	30402036	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		30402036	128736627	20	2297										
RP1	6101	broad.mit.edu	37	chr8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gaaaaaatctcgacagcaagCaataaattccaggtatcaag	7	8	2	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.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		Somatic					p.A680V	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	5	69	---	---	---	---	T	55538481	C	T	55538481	3	4	39	1	0	0	0	0	1	0	0	0	13532	710	25	2	2049	2	RP1	8	55538481	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		55538481	90825541	21	2298										
PAX5	5079	broad.mit.edu	37	chr9	36923352	36923352	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	catgccccaggtgccctcacCtgtcacaatggggtaggact	11	14	2	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.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	PAX5_ENST00000377852.2_Splice_Site_p.G304W|PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304C	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.(910-912)Ggc>Tgc		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			Somatic				PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000377852.2_Splice_Site_p.G304W	p.G304C	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	WXS	Illumina GAIIx	Phase_I	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.910G>T	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	40	131	---	---	---	---	A	36923352	C	A	36923352	5	1	39	1	0	0	0	0	0	0	1	0	11482	695	24	1	281	1	PAX5	9	36923352	Splice_Site	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		36923352	104290079	22	2299										
ZFAND5	7763	broad.mit.edu	37	chr9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ttctctgaattttttcagccAcaacaactggattctctttt	4	10	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.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_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	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	7763						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		Somatic				ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G	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	WXS	Illumina GAIIx	Phase_I	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	19	104	---	---	---	---	C	74970894	A	C	74970894	3	2	39	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	23	2300										
CDH23	414152	broad.mit.edu	37	chr10	73472477	73472477	+	3'UTR	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gccaccgtgttcgtcactgtCctggatgtgaatgacaaccg	11	12	1	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.chr10:73472477C>A	ENST00000441508.2	-	0	3817				C10orf105_ENST00000398786.2_3'UTR|CDH23_ENST00000224721.6_Silent_p.V1097V	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.V1097V(1)									TCGTCACTGTCCTGGATGTGA	0.582																																						ENST00000224721.6																			1	Substitution - coding silent(1)	p.V1097V(1)	prostate(1)	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.(3289-3291)gtC>gtA		cadherin-related 23							55	60	59					10																	73472477		2091	4213	6304	SO:0001624	3_prime_UTR_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.chr10:73472477C>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	ENST00000441508.2:c.*3216G>T	10.37:g.73472477C>A			Somatic				C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	p.V1097V	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			27	3296	+			1092			Cadherin 10.			Silent	SNP	ENST00000441508.2	37	c.3291C>A	CCDS44430.1																																																																																				0.582	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		3	39	3	39	---	---	---	---	A	73472477	C	A	73472477	1	1	39	0	1	0	0	0	0	0	0	0	3108	842	30	3		3	CDH23	10	73472477	3'UTR	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		73472477	62062270	24	2301										
TM7SF2	7108	broad.mit.edu	37	chr11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ccccagtttcggccctggcaCctggggggaactcaggtgag	15	13	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		Somatic	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_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S	p.P162S	NM_003273.2	NP_003264.2	WXS	Illumina GAIIx	Phase_I	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	55	170	---	---	---	---	T	64880871	C	T	64880871	3	4	39	1	0	0	0	0	1	0	0	0	15971	507	18	2	498	2	TM7SF2	11	64880871	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		64880871	70125645	25	2302										
ATF7IP	55729	broad.mit.edu	37	chr12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ctgggatcaacaggacctcaGctcacagtgcatcaccgacc	9	15	4	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_ENST00000544627.1_Missense_Mutation_p.Q1127H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H			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		Somatic				ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H	p.Q1127H			WXS	Illumina GAIIx	Phase_I	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	19	59	---	---	---	---	C	14649241	G	C	14649241	3	2	39	1	0	0	0	0	1	0	0	0	1087	962	34	4	3407	4	ATF7IP	12	14649241	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		14649241	119202654	26	2303										
ERBB3	2065	broad.mit.edu	37	chr12	56481946	56481946	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	tttgtgtagccagctgtcccCgtaagtgtctgaggggaagg	15	8	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.chr12:56481946C>A	ENST00000267101.3	+	7	1314	c.874C>A	c.(874-876)Cat>Aat	p.H292N	ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	292					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)	p.H292N(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGCTGTCCCCGTAAGTGTCT	0.443																																						ENST00000267101.3																			2	Substitution - Missense(2)	p.H292N(2)	prostate(2)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(874-876)Cat>Aat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							56	52	54					12																	56481946		2203	4300	6503	SO:0001630	splice_region_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.chr12:56481946C>A	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.874+1C>A	12.37:g.56481946C>A			Somatic				ERBB3_ENST00000415288.2_Splice_Site_p.H233N|ERBB3_ENST00000450146.2_Intron	p.H292N	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		7	1314	+			292					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.874C>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585515	0.46110	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.61859	0.07;0.07	4.89	4.89	0.63831	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.094778	0.47093	D	0.000257	T	0.64832	0.2634	M	0.71206	2.165	0.80722	D	1	B	0.17038	0.02	B	0.35550	0.205	T	0.65664	-0.6113	10	0.56958	D	0.05	.	16.987	0.86342	0.0:1.0:0.0:0.0	.	292	P21860	ERBB3_HUMAN	N	292;292;233	ENSP00000267101:H292N;ENSP00000408340:H233N	ENSP00000267101:H292N	H	+	1	0	ERBB3	54768213	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.359000	0.52292	2.542000	0.85734	0.563000	0.77884	CAT		0.443	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation	3	81	3	81	---	---	---	---	A	56481946	C	A	56481946	5	1	39	1	0	0	0	0	0	0	1	0	5208	666	23	1	1031	1	ERBB3	12	56481946	Splice_Site	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	41832705	56481946	77369949	27	2304										
APAF1	317	broad.mit.edu	37	chr12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ctgcagaagctgttagagatCattcccttttagaaggtaag	10	7	1	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.chr12:99043447C>T	ENST00000551964.1	+	4	1247	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000357310.1_Missense_Mutation_p.H171Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y	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		Somatic				APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	p.H171Y	NM_181868.1	NP_863658.1	WXS	Illumina GAIIx	Phase_I	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	5	58	---	---	---	---	T	99043447	C	T	99043447	3	4	39	1	0	0	0	0	1	0	0	0	755	826	29	2	521	2	APAF1	12	99043447	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	42561501	99043447	34808448	28	2305										
TUBA3C	7278	broad.mit.edu	37	chr13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	agcccaggcctccgcgatggCcgtggtgttgctcagcatgc	14	14	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.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		Somatic					p.A383T	NM_006001.2	NP_005992.1	WXS	Illumina GAIIx	Phase_I	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	42	85	---	---	---	---	T	19748209	C	T	19748209	3	4	39	1	0	0	0	0	1	0	0	0	16743	739	26	2	209	2	TUBA3C	13	19748209	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		19748209	95421669	29	2306										
FAM155A	728215	broad.mit.edu	37	chr13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	aattgtctttctgcagttaaActgtgtgacttcaaaatact	6	7	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	22	102	---	---	---	---	G	107863055	A	G	107863055	3	3	39	1	0	0	0	0	1	0	0	0	5465	43	2	2	420	2	FAM155A	13	107863055	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	88114846	107863055	7306823	30	2307										
NIPA2	81614	broad.mit.edu	37	chr15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gattacagagcagattgttaTgtacacaagaatgtttgtct	9	5	1	3	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_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L	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		Somatic				NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L	p.I182L	NM_030922.6	NP_112184.4	WXS	Illumina GAIIx	Phase_I	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	3	74	---	---	---	---	A	23006760	T	A	23006760	3	1	39	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	31	2308										
ACTC1	70	broad.mit.edu	37	chr15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	cgggaagtttacctggtgccGcgggcggcccacgatggacg	17	12	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.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		Somatic				RP11-814P5.1_ENST00000503496.1_RNA	p.R41W	NM_005159.4	NP_005150.1	WXS	Illumina GAIIx	Phase_I	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	9	47	---	---	---	---	A	35086889	G	A	35086889	3	1	39	1	0	0	0	0	1	0	0	0	195	1086	38	2	1036	2	ACTC1	15	35086889	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12080129	35086889	67444503	32	2309										
IREB2	3658	broad.mit.edu	37	chr15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	aggcttccaaattgcagctgAaaaacaaaaggatattgtct	8	7	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.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		Somatic					p.E482G	NM_004136.2	NP_004127	WXS	Illumina GAIIx	Phase_I	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	3	139	---	---	---	---	G	78777134	A	G	78777134	3	3	39	1	0	0	0	0	1	0	0	0	7826	246	9	2	1491	2	IREB2	15	78777134	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	43690245	78777134	23754258	33	2310										
FANCI	55215	broad.mit.edu	37	chr15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gtcatgtggaaggcaccattAttctacacattgtgtttgcc	9	9	2	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.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		Somatic				FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	p.I272V	NM_001113378.1	NP_001106849.1	WXS	Illumina GAIIx	Phase_I	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	9	358	---	---	---	---	G	89811688	A	G	89811688	3	3	39	1	0	0	0	0	1	0	0	0	5669	449	16	2	848	2	FANCI	15	89811688	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	11034554	89811688	12719704	34	2311										
PLCG2	5336	broad.mit.edu	37	chr16	81944188	81944188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gagggcgggaccctgaaataCtacttgactgacaacctcac	10	12	1	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			Somatic					p.Y599Y	NM_002661.3	NP_002652.2	WXS	Illumina GAIIx	Phase_I	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	6	230	---	---	---	---	T	81944188	C	T	81944188	2	4	39	1	0	0	0	0	0	0	0	1	12036	576	20	2		2	PLCG2	16	81944188	Silent	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		81944188	8410565	35	2312										
NF1	4763	broad.mit.edu	37	chr17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	atgtgctggtaaattcactcCatcgaatcatcaccaatgta	6	10	3	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.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)	Somatic				NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	p.H415Y	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	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	5	286	---	---	---	---	T	29528486	C	T	29528486	3	4	39	1	0	0	0	0	1	0	0	0	10356	594	21	2	1285	2	NF1	17	29528486	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		29528486	51666724	36	2313										
UBTF	7343	broad.mit.edu	37	chr17	42293127	42293127	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	tacttggcccgcttctccatGaagaagcggaaataaggggt	12	9	1	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.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_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			Somatic				UBTF_ENST00000393606.3_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F	p.F123F			WXS	Illumina GAIIx	Phase_I	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	51	138	---	---	---	---	A	42293127	G	A	42293127	2	1	39	1	0	0	0	0	0	0	0	1	16906	1281	45	2		2	UBTF	17	42293127	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12764641	42293127	38902083	37	2314										
SLC16A6	9120	broad.mit.edu	37	chr17	66267452	66267452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ttcaaaatggagaagtctaaTagcggggctttcttttcgct	10	7	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.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			Somatic				SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	p.L283L	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	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	3	123	---	---	---	---	C	66267452	T	C	66267452	2	2	39	1	0	0	0	0	0	0	0	1	14412	1393	49	2		2	SLC16A6	17	66267452	Silent	SNP	T	TCGA-EJ-5496-01A-01D-1576-08	23974325	66267452	14927758	38	2315										
MUC16	94025	broad.mit.edu	37	chr19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	tgtggtgtctgacttactatGggaaaacttgggagttgtcc	13	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.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		Somatic					p.H11511Y	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	53	140	---	---	---	---	A	9047100	G	A	9047100	3	1	39	1	0	0	0	0	1	0	0	0	9973	1348	47	2	9312	2	MUC16	19	9047100	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		9047100	50081883	39	2316										
ZNF98	148198	broad.mit.edu	37	chr19	22574557	22574557	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	gttaaaagctttgccacattCttcacatttgtagggcttct	7	9	3	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.chr19:22574557C>A	ENST00000357774.5	-	4	1601	c.1480G>T	c.(1480-1482)Gaa>Taa	p.E494*		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	494					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.E494Q(2)|p.E494*(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)				TTGCCACATTCTTCACATTTG	0.403																																						ENST00000357774.5																			4	Substitution - Missense(2)|Substitution - Nonsense(2)	p.E494Q(2)|p.E494*(2)	prostate(2)|lung(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.(1480-1482)Gaa>Taa		zinc finger protein 98							81	72	75					19																	22574557		2188	4282	6470	SO:0001587	stop_gained	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574557C>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.1480G>T	19.37:g.22574557C>A	ENSP00000350418:p.Glu494*		Somatic					p.E494*	NM_001098626.1	NP_001092096.1	WXS	Illumina GAIIx	Phase_I	A6NK75	ZNF98_HUMAN			4	1601	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	494						Nonsense_Mutation	SNP	ENST00000357774.5	37	c.1480G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256807	0.39896	.	.	ENSG00000197360	ENST00000357774	.	.	.	1.26	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.6413	0.12550	0.0:0.4205:0.4069:0.1726	.	.	.	.	X	494	.	ENSP00000350418:E494X	E	-	1	0	ZNF98	22366397	0.000000	0.05858	0.004000	0.12327	0.051000	0.14879	-1.056000	0.03489	-0.229000	0.09854	0.289000	0.19496	GAA		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	183	4	183	---	---	---	---	A	22574557	C	A	22574557	4	1	39	1	0	0	0	0	0	1	0	0	18200	922	32	3	242	3	ZNF98	19	22574557	Nonsense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	13527457	22574557	36554426	40	2317										
CEACAM3	1084	broad.mit.edu	37	chr19	42312921	42312921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.58840372226199	0	0.719160104986877	0.4	1	0	ggggtcctggtcggagtggcGctggtggccgcgctggtgtg	22	9	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			Somatic				CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A	p.A165A	NM_001815.2	NP_001806.2	WXS	Illumina GAIIx	Phase_I	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	72	282	---	---	---	---	A	42312921	G	A	42312921	2	1	39	1	0	0	0	0	0	0	0	1	3193	1074	38	2		2	CEACAM3	19	42312921	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	19738364	42312921	16816062	41	2318										
LCE1F	353137	broad.mit.edu	37	chr1	152748962	152748963	+	Missense_Mutation	DNP	CC	CC	GT													0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	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.chr1:152748962_152748963CC>GT	ENST00000334371.2	+	1	115_116	c.115_116CC>GT	c.(115-117)CCt>GTt	p.P39V		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization (GO:0031424)			p.P39L(1)|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)			taagtgccctccTGTCTCTTCC	0.673																																						ENST00000334371.2																			2	Substitution - Missense(2)	p.P39A(1)|p.P39L(1)	prostate(2)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)Cct>Gct|c.(115-117)cCt>cTt		late cornified envelope 1F																																				SO:0001583	missense	353137				keratinization			g.chr1:152748962C>G|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	Exception_encountered	1.37:g.152748962_152748963delinsGT	ENSP00000334187:p.Pro39Val		Somatic					p.P39A|p.P39L	NM_178354.2	NP_848131.1	WXS	Illumina GAIIx	Phase_I	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	115|116	+	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|c.116C>T	CCDS1023.1																																																																																				0.673	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		14|13	84	13	84	---	---	---	---	GT	152748963	CC	GT	152748962	3	3	40	1	0	0	0	0	1	0	0	0	8664	855	30	4	117	4	LCE1F	1	152748962	Missense_Mutation	DNP	CC	TCGA-EJ-5497-01A-02D-1576-08		152748962	96501659	1	2319										
ASPM	259266	broad.mit.edu	37	chr1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	aacagttgactgcaattttaTtgtagcattttttaggctca	7	6	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.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		Somatic				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.I1683V	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	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	4	125	---	---	---	---	C	197073334	T	C	197073334	3	2	40	1	0	0	0	0	1	0	0	0	1056	1493	52	2	5430	2	ASPM	1	197073334	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08	44324372	197073334	52177287	2	2320										
CCDC142	84865	broad.mit.edu	37	chr2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	cctgacccagtgcctgactcAgctgttgcgctgttgccctg	11	15	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.chr2:74708964A>T	ENST00000393965.3	-	1	1397	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q|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		Somatic				CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q	p.L334Q	NM_032779.3	NP_116168.3	WXS	Illumina GAIIx	Phase_I	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	8	111	---	---	---	---	T	74708964	A	T	74708964	3	4	40	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	3	2321										
AFF3	3899	broad.mit.edu	37	chr2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	gcagctggctgtcggccttaGgctttttgctggaagaggct	15	9	0	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.chr2:100199303G>C	ENST00000409236.2	-	15	2862	c.2750C>G	c.(2749-2751)cCt>cGt	p.P917R	AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000317233.4_Missense_Mutation_p.P917R			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																																						ENST00000409236.2																			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		Somatic				AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R|AFF3_ENST00000317233.4_Missense_Mutation_p.P917R	p.P917R			WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			15	2862	-								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	8	158	---	---	---	---	C	100199303	G	C	100199303	3	2	40	1	0	0	0	0	1	0	0	0	358	1000	35	4	966	4	AFF3	2	100199303	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	25490339	100199303	143000070	4	2322										
FASTKD2	22868	broad.mit.edu	37	chr2	207636634	207636634	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	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)gaafs		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		Somatic				FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs	p.E336fs	NM_014929.3	NP_055744.2	WXS	Illumina GAIIx	Phase_I	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	40	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	5	2323										
CPS1	1373	broad.mit.edu	37	chr2	211454904	211454904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	tatgatgggattttgatcgcGggaggaccggggaacccagc	16	8	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.chr2:211454904G>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			Somatic				CPS1_ENST00000430249.2_Silent_p.A268A	p.A262A	NM_001875.4	NP_001866.2	WXS	Illumina GAIIx	Phase_I	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	24	534	---	---	---	---	A	211454904	G	A	211454904	2	1	40	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	6	2324										
RAPGEF2	9693	broad.mit.edu	37	chr4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	agtgctaagggtttttaaggCtgatcagcaaagccgctaca	11	8	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.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		Somatic					p.A615V	NM_014247.2	NP_055062.1	WXS	Illumina GAIIx	Phase_I	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	6	355	---	---	---	---	T	160260299	C	T	160260299	3	4	40	1	0	0	0	0	1	0	0	0	13044	797	28	2	1894	2	RAPGEF2	4	160260299	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		160260299	30893977	7	2325										
SYNE1	23345	broad.mit.edu	37	chr6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	ggtctgctggtgaagttcagTcagttttcctatcttcttgg	11	8	5	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.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)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A	p.T5505A	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	9	188	---	---	---	---	C	152639275	T	C	152639275	3	2	40	1	0	0	0	0	1	0	0	0	15442	1667	58	2	10197	2	SYNE1	6	152639275	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08		152639275	18475792	8	2326										
RIPK2	8767	broad.mit.edu	37	chr8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	tcaagactgttattttatgaAgctgcatcactgtcctggaa	8	8	2	2	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		Somatic				RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	p.K384R	NM_003821.5	NP_003812.1	WXS	Illumina GAIIx	Phase_I	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	6	259	---	---	---	---	G	90801576	A	G	90801576	3	3	40	1	0	0	0	0	1	0	0	0	13381	72	3	2	1189	2	RIPK2	8	90801576	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		90801576	55562446	9	2327										
CSMD3	114788	broad.mit.edu	37	chr8	113275870	113275870	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	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_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs	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)ttafs		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)	Somatic				CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs	p.L3287fs	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	40	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	10	2328										
FAM75A3	727830	broad.mit.edu	37	chr9	40702847	40702847	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	cctcaggatctggcctccacCccatcaccaggcccaatgac	7	19	3	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.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			Somatic				SPATA31A3_ENST00000463536.1_3'UTR	p.T168T	NM_001083124.1	NP_001076593.1	WXS	Illumina GAIIx	Phase_I					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	20	445	---	---	---	---	A	40702847	C	A	40702847	2	1	40	1	0	0	0	0	0	0	0	1	5621	610	22	1		1	FAM75A3	9	40702847	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		40702847	100510584	11	2329										
LPAR1	1902	broad.mit.edu	37	chr9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	cagaagactcatcatggtatCccgattccgccggggtccag	11	13	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_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_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		Somatic				LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N|LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N	p.D251N	NM_057159.2	NP_476500.1	WXS	Illumina GAIIx	Phase_I	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	24	98	---	---	---	---	T	113703743	C	T	113703743	3	4	40	1	0	0	0	0	1	0	0	0	8904	855	30	2	351	2	LPAR1	9	113703743	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	73000896	113703743	27509688	12	2330										
OR9G4	283189	broad.mit.edu	37	chr11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	ctgggaatctgctgagaaacCcaacaagatgaattcagtca	9	9	3	3	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		Somatic					p.G31S	NM_001005284.1	NP_001005284.1	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	T	56511197	C	T	56511197	3	4	40	1	0	0	0	0	1	0	0	0	11251	623	22	2	895	2	OR9G4	11	56511197	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		56511197	78495319	13	2331										
NCAPD3	23310	broad.mit.edu	37	chr11	134054637	134054637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	tgaaatccattcagcttacaCttgacagcatctatgaagga	7	9	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.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			Somatic				RP11-700F16.3_ENST00000531710.1_RNA	p.K782K	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	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	19	96	---	---	---	---	T	134054637	C	T	134054637	2	4	40	1	0	0	0	0	0	0	0	1	10206	564	20	2		2	NCAPD3	11	134054637	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	77543440	134054637	951879	14	2332										
LMO7	4008	broad.mit.edu	37	chr13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	attgacaagctgctcctctgAtatcacgttgagaggggggc	13	9	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_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.D264G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G	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		Somatic				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G|LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR	p.D264G			WXS	Illumina GAIIx	Phase_I	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	14	328	---	---	---	---	G	76374992	A	G	76374992	3	3	40	1	0	0	0	0	1	0	0	0	8855	333	12	2	821	2	LMO7	13	76374992	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		76374992	38794886	15	2333										
CPNE6	9362	broad.mit.edu	37	chr14	24543288	24543288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	acaaaccaaggtcactaagcCattattgctgaagaatggga	9	8	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.chr14:24543288C>T	ENST00000397016.2	+	5	688	c.377C>T	c.(376-378)cCa>cTa	p.P126L	CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|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		Somatic				CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L|CPNE6_ENST00000560092.1_3'UTR	p.P126L	NM_001280558.1	NP_001267487.1	WXS	Illumina GAIIx	Phase_I	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	18	90	---	---	---	---	T	24543288	C	T	24543288	3	4	40	1	0	0	0	0	1	0	0	0	3816	594	21	2	387	2	CPNE6	14	24543288	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		24543288	82806252	16	2334										
ALDOC	230	broad.mit.edu	37	chr17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	ggtgtggactcaccttctctGtaacatactgacaacgtttg	9	10	2	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.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|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K|RP11-192H23.5_ENST00000585189.1_RNA	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		Somatic				ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K	p.T206K	NM_005165.2	NP_005156.1	WXS	Illumina GAIIx	Phase_I	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	12	314	---	---	---	---	T	26901519	G	T	26901519	3	4	40	1	0	0	0	0	1	0	0	0	509	1377	48	3	493	3	ALDOC	17	26901519	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		26901519	54293691	17	2335										
ZNF181	339318	broad.mit.edu	37	chr19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	gaaagcttttagcaaaggctCaaatcttactgcccatcaaa	6	10	3	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.chr19:35232875C>G	ENST00000492450.1	+	4	1678	c.1589C>G	c.(1588-1590)tCa>tGa	p.S530*	ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*|ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S574*			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*		Somatic				ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S529*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530*	p.S574*			WXS	Illumina GAIIx	Phase_I	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	5	201	---	---	---	---	G	35232875	C	G	35232875	4	3	40	1	0	0	0	0	0	1	0	0	17746	838	29	4	1603	4	ZNF181	19	35232875	Nonsense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		35232875	23896108	18	2336										
PRODH2	58510	broad.mit.edu	37	chr19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	cgcatccaccaggagccgcaCgtgctgggcccgggcatact	13	16	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.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		Somatic					p.V309M	NM_021232.1	NP_067055.1	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	T	36297714	C	T	36297714	3	4	40	1	0	0	0	0	1	0	0	0	12549	536	19	2	705	2	PRODH2	19	36297714	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	1064839	36297714	22831269	19	2337										
NINL	22981	broad.mit.edu	37	chr20	25436392	25436392	+	Frame_Shift_Del	DEL	C	C	-													0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	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)gaafs		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		Somatic				NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs	p.E1293fs	NM_025176.4	NP_079452.3	WXS	Illumina GAIIx	Phase_I	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	40	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	20	2338										
ASXL1	171023	broad.mit.edu	37	chr20	31021261	31021261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	ccagatctccgaaccagagcCagaaggaatctgtacaaaaa	8	11	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.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			Somatic				ASXL1_ENST00000306058.5_Silent_p.A415A	p.A420A	NM_015338.5	NP_056153	WXS	Illumina GAIIx	Phase_I	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	5	169	---	---	---	---	T	31021261	C	T	31021261	2	4	40	1	0	0	0	0	0	0	0	1	1066	581	21	2		2	ASXL1	20	31021261	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	5584869	31021261	32004259	21	2339										
PHF20	51230	broad.mit.edu	37	chr20	34458923	34458923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	gaaaacactgacaaagacttAtcgaggagacgttcctccag	9	10	0	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.chr20:34458923A>G	ENST00000374012.3	+	8	1098	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_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			Somatic				PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR	p.L323L			WXS	Illumina GAIIx	Phase_I	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	7	149	---	---	---	---	G	34458923	A	G	34458923	2	3	40	1	0	0	0	0	0	0	0	1	11831	446	16	2		2	PHF20	20	34458923	Silent	SNP	A	TCGA-EJ-5497-01A-02D-1576-08	3437662	34458923	28566597	22	2340										
EYA2	2139	broad.mit.edu	37	chr20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.574626865671642	2.87313432835821	0	1	1	0	tgacgtctcatcagatgacaAtggccaagatttaaggtggg	12	7	2	4	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	MIR3616_ENST00000584070.1_RNA|EYA2_ENST00000317304.6_Missense_Mutation_p.N311T|EYA2_ENST00000357410.3_Missense_Mutation_p.N341T	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		Somatic				EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|EYA2_ENST00000317304.6_Missense_Mutation_p.N311T	p.N341T	NM_005244.4	NP_005235.3	WXS	Illumina GAIIx	Phase_I	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	43	196	---	---	---	---	C	45797830	A	C	45797830	3	2	40	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	23	2341										
PABPC4	8761	broad.mit.edu	37	chr1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	cccagccagatttgaatgcaTtgtttggatgagtgggaaca	12	7	0	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_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V	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		Somatic				PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V	p.M582V	NM_003819.3	NP_003810.1	WXS	Illumina GAIIx	Phase_I	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	5	141	---	---	---	---	C	40027846	T	C	40027846	3	2	41	1	0	0	0	0	1	0	0	0	11366	1493	52	2	198	2	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		40027846	209222775	1	2342										
KIAA0467	23334	broad.mit.edu	37	chr1	43897409	43897409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ccgctggttgttggaagatgAgatggtgggggcactccgaa	17	7	0	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		Somatic				SZT2_ENST00000372442.1_Missense_Mutation_p.E805G	p.E1647G	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	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	3	162	---	---	---	---	G	43897409	A	G	43897409	3	3	41	1	0	0	0	0	1	0	0	0	8178	304	11	2	2488	2	KIAA0467	1	43897409	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	3869563	43897409	205353212	2	2343										
RSBN1	54665	broad.mit.edu	37	chr1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tacactggagtcggaggctaGaaagtgtaccccagggcaaa	13	9	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.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		Somatic					p.S514C	NM_018364.3	NP_060834.2	WXS	Illumina GAIIx	Phase_I	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	40	188	---	---	---	---	C	114319949	G	C	114319949	3	2	41	1	0	0	0	0	1	0	0	0	13696	942	33	4	883	4	RSBN1	1	114319949	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	70422540	114319949	134930672	3	2344										
CFH	3075	broad.mit.edu	37	chr1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	gagtacctgtggagatatacCtgaacttgaacatggctggg	13	7	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.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		Somatic					p.P695H	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	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	29	169	---	---	---	---	A	196695918	C	A	196695918	3	1	41	1	0	0	0	0	1	0	0	0	3283	681	24	1	2156	1	CFH	1	196695918	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	82375969	196695918	52554703	4	2345										
ASPM	259266	broad.mit.edu	37	chr1	197104365	197104365	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	gcaaatggcatcgggtgtctGggaatatctaagaatacaat	11	6	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.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			Somatic				ASPM_ENST00000294732.7_Silent_p.P678P	p.P678P	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	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	12	100	---	---	---	---	C	197104365	G	C	197104365	2	2	41	1	0	0	0	0	0	0	0	1	1056	1335	47	4		4	ASPM	1	197104365	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	408447	197104365	52146256	5	2346										
OBSCN	84033	broad.mit.edu	37	chr1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ccacaccagtgcgcagctcaCcgtcagtggtatgtaagggg	13	12	2	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.chr1:228462137C>T	ENST00000422127.1	+	19	5719	c.5675C>T	c.(5674-5676)aCc>aTc	p.T1892I	OBSCN_ENST00000570156.2_Missense_Mutation_p.T2267I|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366709.4_5'UTR	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		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I	p.T2267I	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	6	32	---	---	---	---	T	228462137	C	T	228462137	3	4	41	1	0	0	0	0	1	0	0	0	10812	507	18	2	5745	2	OBSCN	1	228462137	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	31357772	228462137	20788484	6	2347										
GNPAT	8443	broad.mit.edu	37	chr1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tggagtcttccagttcatctAactcttatttctccgttggc	7	11	5	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.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	C1orf131_ENST00000318906.2_5'Flank|C1orf131_ENST00000471936.1_5'Flank|C1orf131_ENST00000366649.2_5'Flank|GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D|C1orf131_ENST00000366651.3_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		Somatic				GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	p.N8D	NM_014236.3	NP_055051.1	WXS	Illumina GAIIx	Phase_I	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	26	162	---	---	---	---	G	231377146	A	G	231377146	3	3	41	1	0	0	0	0	1	0	0	0	6541	362	13	2	24	2	GNPAT	1	231377146	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	2915009	231377146	17873475	7	2348										
USP34	9736	broad.mit.edu	37	chr2	61415488	61415488	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	agaagggaactcagattcttCctcagctagggtagaatcct	10	9	3	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.chr2:61415488C>A	ENST00000398571.2	-	80	10466	c.10390G>T	c.(10390-10392)Gaa>Taa	p.E3464*	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3464					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.E3464*(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)			TCAGATTCTTCCTCAGCTAGG	0.463																																						ENST00000398571.2																			1	Substitution - Nonsense(1)	p.E3464*(1)	prostate(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.(10390-10392)Gaa>Taa		ubiquitin specific peptidase 34							85	79	81					2																	61415488		1885	4128	6013	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.chr2:61415488C>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.10390G>T	2.37:g.61415488C>A	ENSP00000381577:p.Glu3464*		Somatic				AHSA2_ENST00000394457.3_3'UTR	p.E3464*	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10466	-			3464					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.10390G>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	38|38	6.914123|6.914123	0.97932|0.97932	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.222267|.	0.45867|.	D|.	0.000327|.	.|T	.|0.76463	.|0.3991	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74423	.|-0.3670	.|4	0.25751|.	T|.	0.34|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	3312;3229;3464;342|1140	.|.	ENSP00000263989:E3312X|.	E|G	-|-	1|2	0|0	USP34|USP34	61268992|61268992	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	4.655000|4.655000	0.61476|0.61476	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.463	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	157	4	157	---	---	---	---	A	61415488	C	A	61415488	4	1	41	1	0	0	0	0	0	1	0	0	17062	864	30	3	254	3	USP34	2	61415488	Nonsense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		61415488	181783885	8	2349										
KYNU	8942	broad.mit.edu	37	chr2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tccctggggtctgtggattcCgaatttcaaatcctcccatt	8	12	2	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.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*		Somatic				KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	p.R330*	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	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	63	486	---	---	---	---	T	143790837	C	T	143790837	4	4	41	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	82375349	143790837	99408536	9	2350										
SP140L	93349	broad.mit.edu	37	chr2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	aggatgtagatgagggacttGtctatgacactgtattcaag	12	5	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.chr2:231222557G>T	ENST00000415673.2	+	3	231	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000243810.6_Missense_Mutation_p.V49F|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'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		Somatic				SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140L_ENST00000458341.1_5'UTR	p.V49F			WXS	Illumina GAIIx	Phase_I	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	14	454	---	---	---	---	T	231222557	G	T	231222557	3	4	41	1	0	0	0	0	1	0	0	0	14963	1377	48	3	155	3	SP140L	2	231222557	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	87431720	231222557	11976816	10	2351										
SETD2	29072	broad.mit.edu	37	chr3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atgtgttctctccgcatttcAagagagttagactgtccacc	8	11	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.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		Somatic					p.L898W	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	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	8	273	---	---	---	---	C	47163433	A	C	47163433	3	2	41	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	11	2352										
MYH15	22989	broad.mit.edu	37	chr3	108112995	108112995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ttcttcttctggctgaggagGcttgtgttctaaagaaaagc	11	7	4	2	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			Somatic					p.S1734S	NM_014981.1	NP_055796.1	WXS	Illumina GAIIx	Phase_I	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	30	150	---	---	---	---	A	108112995	G	A	108112995	2	1	41	1	0	0	0	0	0	0	0	1	10034	1194	42	2		2	MYH15	3	108112995	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	60949562	108112995	89909435	12	2353										
FAM134B	54463	broad.mit.edu	37	chr5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atcaccttcttcagtgtctgTgtcctcttctgggatggggg	12	10	6	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.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		Somatic				FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	p.T447A	NM_001034850.2	NP_001030022.1	WXS	Illumina GAIIx	Phase_I	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	21	133	---	---	---	---	C	16475005	T	C	16475005	3	2	41	1	0	0	0	0	1	0	0	0	5446	1696	59	2	158	2	FAM134B	5	16475005	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		16475005	164440255	13	2354										
VARS2	57176	broad.mit.edu	37	chr6	30884893	30884893	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tcattccagggctcctcagtGgctgtgactgaagcttttgt	11	10	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.chr6:30884893G>T	ENST00000321897.5	+	8	1397	c.765G>T	c.(763-765)gtG>gtT	p.V255V	VARS2_ENST00000542001.1_Silent_p.V115V|VARS2_ENST00000416670.2_Silent_p.V255V|VARS2_ENST00000541562.1_Silent_p.V285V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	255					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.V255V(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						GCTCCTCAGTGGCTGTGACTG	0.567																																						ENST00000321897.5																			1	Substitution - coding silent(1)	p.V255V(1)	prostate(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.(763-765)gtG>gtT		valyl-tRNA synthetase 2, mitochondrial							149	146	147					6																	30884893		1511	2709	4220	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884893G>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.765G>T	6.37:g.30884893G>T			Somatic				VARS2_ENST00000416670.2_Silent_p.V255V|VARS2_ENST00000542001.1_Silent_p.V115V|VARS2_ENST00000541562.1_Silent_p.V285V	p.V255V			WXS	Illumina GAIIx	Phase_I	Q5ST30	SYVM_HUMAN			8	1397	+			255					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.765G>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417011	0.11870	.	.	ENSG00000137411	ENST00000413959	.	.	.	4.98	0.789	0.18607	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39881	-0.9592	5	0.59425	D	0.04	-0.5534	0.5978	0.00739	0.3087:0.1711:0.3445:0.1757	.	.	.	.	C	255	.	ENSP00000396752:G255C	G	+	1	0	VARS2	30992872	0.221000	0.23642	0.667000	0.29798	0.684000	0.39900	0.468000	0.22051	0.262000	0.21774	0.655000	0.94253	GGC		0.567	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	159	4	159	---	---	---	---	T	30884893	G	T	30884893	2	4	41	1	0	0	0	0	0	0	0	1	17121	1335	47	1		1	VARS2	6	30884893	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		30884893	140230174	14	2355										
EHMT2	10919	broad.mit.edu	37	chr6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ctccagcatgagcacgcctgGttacactcgaaaatcagcgg	10	13	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.chr6:31850727G>T	ENST00000375537.4	-	24	3060	c.3054C>A	c.(3052-3054)aaC>aaA	p.N1018K	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.N1075K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K	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		Somatic				EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K	p.N1075K			WXS	Illumina GAIIx	Phase_I	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	4	76	---	---	---	---	T	31850727	G	T	31850727	3	4	41	1	0	0	0	0	1	0	0	0	4984	1252	44	3	598	3	EHMT2	6	31850727	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	965834	31850727	139264340	15	2356										
KIAA0240	23506	broad.mit.edu	37	chr6	42824964	42824964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tccatgcccactgaagaagaCttgagaaaaggtaagcaggc	11	9	0	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.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		Somatic				GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.D748E	p.D748E			WXS	Illumina GAIIx	Phase_I					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	20	131	---	---	---	---	A	42824964	C	A	42824964	3	1	41	1	0	0	0	0	1	0	0	0	8164	564	20	3	2274	3	KIAA0240	6	42824964	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	10974237	42824964	128290103	16	2357										
PKHD1	5314	broad.mit.edu	37	chr6	51889566	51889566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ctataaaaatgtcaatgtttGcagctcctgagatctgggcc	9	9	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.chr6:51889566G>T	ENST00000371117.3	-	32	5317	c.5042C>A	c.(5041-5043)gCa>gAa	p.A1681E	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1681E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1681	IPT/TIG 12; atypical.				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.A1681E(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)					GTCAATGTTTGCAGCTCCTGA	0.493																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.A1681E(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.(5041-5043)gCa>gAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							82	80	80					6																	51889566		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.chr6:51889566G>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.5042C>A	6.37:g.51889566G>T	ENSP00000360158:p.Ala1681Glu		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.A1681E	p.A1681E	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			32	5317	-	Lung NSC(77;0.0605)		1681			IPT/TIG 12; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5042C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.009436	0.00426	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-1.99;-2.2	5.55	-11.1	0.00147	.	3.102080	0.00654	N	0.000578	T	0.43897	0.1268	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.49143	-0.8970	10	0.02654	T	1	.	11.2369	0.48946	0.0829:0.0:0.4894:0.4277	.	1681;1681	P08F94-2;P08F94	.;PKHD1_HUMAN	E	1681	ENSP00000360158:A1681E;ENSP00000341097:A1681E	ENSP00000341097:A1681E	A	-	2	0	PKHD1	51997525	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.713000	0.01883	-3.330000	0.00186	-0.175000	0.13238	GCA		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	177	4	177	---	---	---	---	T	51889566	G	T	51889566	3	4	41	1	0	0	0	0	1	0	0	0	11971	1319	46	3	7365	3	PKHD1	6	51889566	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	9064602	51889566	119225501	17	2358										
PON1	5444	broad.mit.edu	37	chr7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	cgatttttcttcttcttgaaAtttaaacaactccactgtgg	5	9	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.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		Somatic				PON1_ENST00000542556.1_Missense_Mutation_p.F146V	p.F146V	NM_000446.5	NP_000437.3	WXS	Illumina GAIIx	Phase_I	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	34	177	---	---	---	---	C	94940824	A	C	94940824	3	2	41	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		94940824	64197839	18	2359										
PIK3CG	5294	broad.mit.edu	37	chr7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ttcctgtgcaggctactgtgTggcaacctttgttcttggaa	11	9	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.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A|PIK3CG_ENST00000440650.2_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		Somatic				PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A	p.V937A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	WXS	Illumina GAIIx	Phase_I	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	48	267	---	---	---	---	C	106524649	T	C	106524649	3	2	41	1	0	0	0	0	1	0	0	0	11916	1696	59	2	2840	2	PIK3CG	7	106524649	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08	11583825	106524649	52614014	19	2360										
RP1	6101	broad.mit.edu	37	chr8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atggacaactactgtcagtaAaactggtccttctaataatg	7	8	2	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.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		Somatic					p.K355I	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	10	60	---	---	---	---	T	55537506	A	T	55537506	3	4	41	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	20	2361										
LCN12	286256	broad.mit.edu	37	chr9	139847394	139847394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	gcgggcaacagcttcaggccGgagcacagggcgctgctgaa	16	12	1	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			Somatic					p.P55P	NM_178536.3	NP_848631.2	WXS	Illumina GAIIx	Phase_I	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	39	233	---	---	---	---	A	139847394	G	A	139847394	2	1	41	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	21	2362										
LRIT2	340745	broad.mit.edu	37	chr10	85981795	85981795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atccttggactgcggggctgCaggggtgcagctgggggctt	19	9	0	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.chr10:85981795C>A	ENST00000372113.4	-	3	1539	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	LRIT2_ENST00000538192.1_Missense_Mutation_p.A522S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	512						integral component of membrane (GO:0016021)		p.A512S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCGGGGCTGCAGGGGTGCAG	0.627																																						ENST00000372113.4																			1	Substitution - Missense(1)	p.A512S(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.(1534-1536)Gca>Tca		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							59	65	63					10																	85981795		2201	4298	6499	SO:0001583	missense	340745					integral to membrane		g.chr10:85981795C>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.1534G>T	10.37:g.85981795C>A	ENSP00000361185:p.Ala512Ser		Somatic				LRIT2_ENST00000538192.1_Missense_Mutation_p.A522S	p.A512S	NM_001017924.2	NP_001017924.1	WXS	Illumina GAIIx	Phase_I	A6NDA9	LRIT2_HUMAN			3	1539	-			512					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1534G>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617013	0.66672	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.18502	2.21;2.21	5.06	4.14	0.48551	.	0.715824	0.13497	N	0.383548	T	0.07503	0.0189	N	0.08118	0	0.40164	D	0.97709	P;P	0.44816	0.844;0.844	B;B	0.36666	0.23;0.23	T	0.29822	-0.9999	10	0.18710	T	0.47	.	9.9849	0.41835	0.0:0.9005:0.0:0.0995	.	522;512	B7ZME6;A6NDA9	.;LRIT2_HUMAN	S	512;522	ENSP00000361185:A512S;ENSP00000438264:A522S	ENSP00000361185:A512S	A	-	1	0	LRIT2	85971775	0.059000	0.20769	0.097000	0.21041	0.094000	0.18550	0.713000	0.25794	2.525000	0.85131	0.655000	0.94253	GCA		0.627	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		4	157	4	157	---	---	---	---	A	85981795	C	A	85981795	3	1	41	1	0	0	0	0	1	0	0	0	8948	710	25	3	122	3	LRIT2	10	85981795	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		85981795	49552952	22	2363										
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	11	9	0	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_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_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		Somatic					p.L3V	NM_033328.2	NP_201585.1	WXS	Illumina GAIIx	Phase_I	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	4	201	---	---	---	---	G	18891209	C	G	18891209	3	3	41	1	0	0	0	0	1	0	0	0	2642	565	20	4	9	4	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		18891209	114960686	23	2364										
OR6C76	390326	broad.mit.edu	37	chr12	55820712	55820712	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atcagaactattctgagaatCccctcagcacagcaaagaaa	6	11	3	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.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			Somatic					p.I225I	NM_001005183.1	NP_001005183.1	WXS	Illumina GAIIx	Phase_I	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	18	108	---	---	---	---	T	55820712	C	T	55820712	2	4	41	1	0	0	0	0	0	0	0	1	11200	845	30	2		2	OR6C76	12	55820712	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	36929503	55820712	78031183	24	2365										
C12orf63	144535	broad.mit.edu	37	chr12	97085090	97085090	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tgttaggcaaaacctaatagTaagtaatttgtaaaataaaa	6	3	0	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.chr12:97085090T>A	ENST00000524981.4	+	44	6287		c.e44+2					Q96N23	CL055_HUMAN																			AACCTAATAGTAAGTAATTTG	0.318																																						ENST00000524981.4																			0											c.e44+2		chromosome 12 open reading frame 55							49	45	46					12																	97085090		2203	4300	6503	SO:0001630	splice_region_variant	144535							g.chr12:97085090T>A																												ENST00000524981.4:c.6264+2T>A	12.37:g.97085090T>A			Somatic								WXS	Illumina GAIIx	Phase_I					44	6287	+									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	4	95	---	---	---	---	A	97085090	T	A	97085090	5	1	41	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	25	2366										
CLTC	1213	broad.mit.edu	37	chr17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ggctgtacgtaataacttagCcggtgctgaagaactctttg	11	8	1	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.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000393043.1_Missense_Mutation_p.A358V|CLTC_ENST00000579456.1_Intron	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		Somatic				CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A358V	p.A358V	NM_004859.3	NP_004850.1	WXS	Illumina GAIIx	Phase_I	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	6	443	---	---	---	---	T	57737855	C	T	57737855	3	4	41	1	0	0	0	0	1	0	0	0	3566	739	26	2	1099	2	CLTC	17	57737855	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		57737855	23457355	26	2367										
SERPINB5	5268	broad.mit.edu	37	chr18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	atttacatcatcaggcacaaCaaaactcgaaacattatttt	3	9	2	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.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		Somatic					p.N361K	NM_002639.4	NP_002630.2	WXS	Illumina GAIIx	Phase_I	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	14	395	---	---	---	---	A	61170910	C	A	61170910	3	1	41	1	0	0	0	0	1	0	0	0	14104	477	17	3	1105	3	SERPINB5	18	61170910	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		61170910	16906338	27	2368										
TSPAN16	26526	broad.mit.edu	37	chr19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tgtgtcctgtgacggacgcgAtgtgtctccaaacgtcatcc	11	12	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.chr19:11417404A>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		Somatic				TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G|TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|CTC-510F12.4_ENST00000586356.1_RNA	p.D192G	NM_012466.2	NP_036598.1	WXS	Illumina GAIIx	Phase_I	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	5	78	---	---	---	---	G	11417404	A	G	11417404	3	3	41	1	0	0	0	0	1	0	0	0	16637	333	12	2	593	2	TSPAN16	19	11417404	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		11417404	47711579	28	2369										
CYP2A13	1553	broad.mit.edu	37	chr19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	gggttttggcgtgggcaagcGcggcatcgaggaacgcatcc	17	10	0	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.chr19:41596036G>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		Somatic					p.R143H	NM_000766.4	NP_000757.2	WXS	Illumina GAIIx	Phase_I	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	10	50	---	---	---	---	A	41596036	G	A	41596036	3	1	41	1	0	0	0	0	1	0	0	0	4161	1087	38	2	438	2	CYP2A13	19	41596036	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	30178632	41596036	17532947	29	2370										
MYBPC2	4606	broad.mit.edu	37	chr19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	cctgaacagaagccccacccGaggaccagtccccgactgca	9	18	0	2	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		Somatic					p.E41K	NM_004533.3	NP_004524.3	WXS	Illumina GAIIx	Phase_I	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	8	20	---	---	---	---	A	50939044	G	A	50939044	3	1	41	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	9343008	50939044	8189939	30	2371										
ZNF579	163033	broad.mit.edu	37	chr19	56090151	56090151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tggaccagccggtggcgcgaCagggaccagggcctggcgaa	18	12	0	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			Somatic					p.L285L	NM_152600.2	NP_689813.2	WXS	Illumina GAIIx	Phase_I	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	4	38	---	---	---	---	T	56090151	C	T	56090151	2	4	41	1	0	0	0	0	0	0	0	1	18008	465	17	2		2	ZNF579	19	56090151	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	5151107	56090151	3038832	31	2372										
PEG3	5178	broad.mit.edu	37	chr19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	gccatcgtcttcagcaagctGcactcctggtcacaaggaca	9	14	3	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.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K	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		Somatic				PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K	p.Q259K	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	T	57329201	G	T	57329201	3	4	41	1	0	0	0	0	1	0	0	0	11720	1328	46	3	3999	3	PEG3	19	57329201	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	1239050	57329201	1799782	32	2373										
RBL1	5933	broad.mit.edu	37	chr20	35668590	35668590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ccactgtcagttcgaacttcCttgactcttgggtgcattag	9	11	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.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			Somatic				RBL1_ENST00000344359.3_Silent_p.K623K	p.K623K	NM_002895.2	NP_002886.2	WXS	Illumina GAIIx	Phase_I	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	22	222	---	---	---	---	T	35668590	C	T	35668590	2	4	41	1	0	0	0	0	0	0	0	1	13109	680	24	2		2	RBL1	20	35668590	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		35668590	27356930	33	2374										
DSCAM	1826	broad.mit.edu	37	chr21	41684282	41684282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	tcaaagggttgtatgaaaggCggaactgcaagaaaaaagaa	12	4	1	3	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			Somatic					p.P596P	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	T	41684282	C	T	41684282	2	4	41	1	0	0	0	0	0	0	0	1	4768	755	27	2		2	DSCAM	21	41684282	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		41684282	6445613	34	2375										
ARHGAP6	395	broad.mit.edu	37	chrX	11204545	11204545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.497899159663866	2.32352941176471	0	1	1	0	ggtgatagaatccactgacaTggcaccctgcaagtgacaca	10	11	0	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.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V	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		Somatic				ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V	p.M362V	NM_013427.2	NP_038286.2	WXS	Illumina GAIIx	Phase_I	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	58	123	---	---	---	---	C	11204545	T	C	11204545	3	2	41	1	0	0	0	0	1	0	0	0	887	1464	51	2	1998	2	ARHGAP6	23	11204545	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		11204545	144066015	35	2376										
SNTG2	54221	broad.mit.edu	37	chr2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	gtcatctgttcaggttaatgGcatacatgtagaaaatgcaa	9	6	3	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.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		Somatic				SNTG2_ENST00000407292.1_Intron	p.G126D	NM_018968.3	NP_061841.2	WXS	Illumina GAIIx	Phase_I	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	19	157	---	---	---	---	A	1133461	G	A	1133461	3	1	42	1	0	0	0	0	1	0	0	0	14875	1203	42	2	399	2	SNTG2	2	1133461	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1133461	242065912	1	2377										
TNS1	7145	broad.mit.edu	37	chr2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	cttagaagtgtcctggacaaActtcactttagcccgcgtct	8	12	2	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.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		Somatic				TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V|TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V	p.F1455V	NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	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	16	34	---	---	---	---	C	218679689	A	C	218679689	3	2	42	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	217546228	218679689	24519684	2	2378										
SMC4	10051	broad.mit.edu	37	chr3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tacttttagatggctgtatgGgcgaaaaagatgaccgaaat	11	5	0	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.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	SMC4_ENST00000360111.2_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|SMC4_ENST00000462787.1_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		Somatic				SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	p.W677C	NM_001002800.1	NP_001002800.1	WXS	Illumina GAIIx	Phase_I	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	4	253	---	---	---	---	C	160141224	G	C	160141224	3	2	42	1	0	0	0	0	1	0	0	0	14785	1241	43	4	2081	4	SMC4	3	160141224	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		160141224	37881206	3	2379										
ADAM29	11086	broad.mit.edu	37	chr4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tacttcccataagtgcccagAtgacttttatgtggaagatg	9	8	0	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.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000445694.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	40	159	---	---	---	---	G	175898106	A	G	175898106	3	3	42	1	0	0	0	0	1	0	0	0	247	333	12	2	1432	2	ADAM29	4	175898106	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		175898106	15256170	4	2380										
SLC12A7	10723	broad.mit.edu	37	chr5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	cacaaacgcccccgcgtgcgCgtacgtactccacaggttct	9	17	1	0	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		Somatic					p.A384S	NM_006598.2	NP_006589.2	WXS	Illumina GAIIx	Phase_I	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	3	99	---	---	---	---	A	1081839	C	A	1081839	3	1	42	1	0	0	0	0	1	0	0	0	14388	768	27	3	2165	3	SLC12A7	5	1081839	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		1081839	179833421	5	2381										
FKBP5	2289	broad.mit.edu	37	chr6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tctctcctttcttcatggtaGccaccccaatgtcccatgcc	5	17	3	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.chr6:35588018G>A	ENST00000539068.1	-	4	486	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000542713.1_Missense_Mutation_p.A95V|FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V	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		Somatic				FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V	p.A95V	NM_001145777.1	NP_001139249.1	WXS	Illumina GAIIx	Phase_I	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	45	137	---	---	---	---	A	35588018	G	A	35588018	3	1	42	1	0	0	0	0	1	0	0	0	5911	971	34	2	1179	2	FKBP5	6	35588018	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		35588018	135527049	6	2382										
DNAH8	1769	broad.mit.edu	37	chr6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tacagaacctttgggtttatCttgaagccgtctttgtaggt	10	7	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.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		Somatic				DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F	p.L1501F			WXS	Illumina GAIIx	Phase_I					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	16	177	---	---	---	---	T	38816530	C	T	38816530	3	4	42	1	0	0	0	0	1	0	0	0	4607	913	32	2	4631	2	DNAH8	6	38816530	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	3228512	38816530	132298537	7	2383										
ROS1	6098	broad.mit.edu	37	chr6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	agtaagtatgaaacttgtttCtggtatccaaaaatcatcta	6	6	3	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.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	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*		Somatic				GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	p.E1859*	NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	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	4	108	---	---	---	---	A	117645561	C	A	117645561	4	1	42	1	0	0	0	0	0	1	0	0	13531	922	32	3	1508	3	ROS1	6	117645561	Nonsense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	78829031	117645561	53469506	8	2384										
AKAP7	9465	broad.mit.edu	37	chr6	131490307	131490307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	atagaagaactcctccagggAaaacatttgactttgccctt	7	10	0	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.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G|AKAP7_ENST00000368123.4_Silent_p.G139G	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			Somatic				AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G	p.G161G	NM_016377.3	NP_057461.2	WXS	Illumina GAIIx	Phase_I	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	61	211	---	---	---	---	G	131490307	A	G	131490307	2	3	42	1	0	0	0	0	0	0	0	1	456	233	9	2		2	AKAP7	6	131490307	Silent	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	13844746	131490307	39624760	9	2385										
FBXO5	26271	broad.mit.edu	37	chr6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tacagagacacttcgtacaaTaatcaaatccacagccttct	4	12	2	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.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		Somatic				FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	p.Y359C	NM_001142522.1	NP_001135994.1	WXS	Illumina GAIIx	Phase_I	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	18	148	---	---	---	---	C	153292428	T	C	153292428	3	2	42	1	0	0	0	0	1	0	0	0	5758	1406	49	2	133	2	FBXO5	6	153292428	Missense_Mutation	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	21802121	153292428	17822639	10	2386										
ZFPM2	23414	broad.mit.edu	37	chr8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	aagagaagctgctccggtgtCagaggaaaatgaagacagtg	14	6	1	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.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L	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		Somatic				RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.S284L	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	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	47	133	---	---	---	---	T	106811063	C	T	106811063	3	4	42	1	0	0	0	0	1	0	0	0	17655	838	29	2	877	2	ZFPM2	8	106811063	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		106811063	39552959	11	2387										
PTPRD	5789	broad.mit.edu	37	chr9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	cagacaaatcctaccttgatCcacaggcagtgtcctgaact	7	13	0	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.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H	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)	Somatic				PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR	p.D1017H	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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	17	44	---	---	---	---	G	8485768	C	G	8485768	3	3	42	1	0	0	0	0	1	0	0	0	12799	855	30	4	2833	4	PTPRD	9	8485768	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		8485768	132727663	12	2388										
FRMPD2	143162	broad.mit.edu	37	chr10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	gaaaggagcagcctctatatGagaaacacggccttggaaag	12	8	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.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		Somatic				FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N	p.H78N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	WXS	Illumina GAIIx	Phase_I	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	17	45	---	---	---	---	T	49457141	G	T	49457141	3	4	42	1	0	0	0	0	1	0	0	0	6058	1290	45	3	3805	3	FRMPD2	10	49457141	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		49457141	86077606	13	2389										
LTBR	4055	broad.mit.edu	37	chr12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	gcactgcccagtccgacacaAcctgcaaaaatccattagag	7	14	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.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q|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		Somatic				LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A	p.T209A	NM_002342.2	NP_002333.1	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	G	6495568	A	G	6495568	3	3	42	1	0	0	0	0	1	0	0	0	9077	43	2	2	647	2	LTBR	12	6495568	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		6495568	127356327	14	2390										
CLEC1A	51267	broad.mit.edu	37	chr12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	cagtattggagagctggtagTactgaaaaactaacccaaat	9	7	0	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.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron	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		Somatic				CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron	p.Y75F	NM_016511.2	NP_057595.2	WXS	Illumina GAIIx	Phase_I	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	30	103	---	---	---	---	A	10234003	T	A	10234003	3	1	42	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	15	2391										
C12orf63	144535	broad.mit.edu	37	chr12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-													0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	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																																						ENST00000524981.4																			0											c.(6418-6420)ggafs		chromosome 12 open reading frame 55							76	83	81					12																	97093817		2203	4299	6502	SO:0001589	frameshift_variant	144535							g.chr12:97093817delA																												ENST00000524981.4:c.6420delA	12.37:g.97093817delA	ENSP00000431759:p.Gly2140fs		Somatic					p.G2140fs			WXS	Illumina GAIIx	Phase_I					46	6443	+									Frame_Shift_Del	DEL	ENST00000524981.4	37	c.6420delA																																																																																					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	42	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	86859814	97093817	36758078	16	2392										
C12orf51	283450	broad.mit.edu	37	chr12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	aattcacttactttttaaagAtgacaaaccacttgttccac	3	10	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.chr12:112717041A>G	ENST00000430131.2	-	9	1641	c.496T>C	c.(496-498)Tct>Cct	p.S166P	HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P|HECTD4_ENST00000550722.1_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		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P	p.S416P	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					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	25	92	---	---	---	---	G	112717041	A	G	112717041	3	3	42	1	0	0	0	0	1	0	0	0	1696	333	12	2	11762	2	C12orf51	12	112717041	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	15623224	112717041	21134854	17	2393										
PAPLN	89932	broad.mit.edu	37	chr14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	gccagccacggccagctgacCggcgttcctgcaatcttcac	10	17	2	1	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_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|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		Somatic				PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W	p.R352W			WXS	Illumina GAIIx	Phase_I	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	39	125	---	---	---	---	T	73719443	C	T	73719443	3	4	42	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		73719443	33630097	18	2394										
ITGAL	3683	broad.mit.edu	37	chr16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	atgcggccaaagacatcatcCgctacatcatcggggtaggg	12	11	2	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.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA	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	3683				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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	31	252	---	---	---	---	T	30495266	C	T	30495266	3	4	42	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	19	2395										
ST8SIA3	51046	broad.mit.edu	37	chr18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	gcatgtcgatgtaataaaaaAtttttctttgaccaagaata	6	5	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.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		Somatic					p.N113I	NM_015879.2	NP_056963.2	WXS	Illumina GAIIx	Phase_I	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	35	146	---	---	---	---	T	55024179	A	T	55024179	3	4	42	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	20	2396										
ZNF43	7594	broad.mit.edu	37	chr19	22001955	22001955	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	ttcctatataaattctgctgTgcaatgtccaggcattgcca	7	10	1	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.chr19:22001955T>G	ENST00000354959.4	-	2	241	c.72A>C	c.(70-72)gcA>gcC	p.A24A	ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000594012.1_Silent_p.A18A|ZNF43_ENST00000595461.1_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			Somatic				ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000598288.1_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	WXS	Illumina GAIIx	Phase_I	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	74	236	---	---	---	---	G	22001955	T	G	22001955	2	3	42	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		22001955	37127028	21	2397										
DGCR14	8220	broad.mit.edu	37	chr22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	aggcgccggtgtgcttgtggGggtctgcagcccactggccg	18	12	1	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.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		Somatic					p.P438S	NM_022719.2	NP_073210.1	WXS	Illumina GAIIx	Phase_I	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	16	35	---	---	---	---	A	19121828	G	A	19121828	3	1	42	1	0	0	0	0	1	0	0	0	4460	1232	43	2	122	2	DGCR14	22	19121828	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		19121828	32182738	22	2398										
CSF2RA	1438	broad.mit.edu	37	chrX	1407464	1407464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	tgaaatttgtctgcatgaagGagtcacatttgaggttcacg	11	6	3	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_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_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	1438					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		Somatic				CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V	p.G91V			WXS	Illumina GAIIx	Phase_I	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	146	521	---	---	---	---	T	1407464	G	T	1407464	3	4	42	1	0	0	0	0	1	0	0	0	3934	1174	41	3	282	3	CSF2RA	23	1407464	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1407464	153863096	23	2399										
TBC1D8B	54885	broad.mit.edu	37	chrX	106064139	106064139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.45641025641026	0	1.87252747252747	0.428571428571429	1	0	aagaaataaccaagcattggGattggttggaacaaaatatt	9	4	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.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_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		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y	p.D92Y	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	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	48	55	---	---	---	---	T	106064139	G	T	106064139	3	4	42	1	0	0	0	0	1	0	0	0	15623	1174	41	3	284	3	TBC1D8B	23	106064139	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	104656675	106064139	49206421	24	2400										
DNMT3A	1788	broad.mit.edu	37	chr2	25467186	25467186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	cccggccccaccaagaggtcCacacactccacgcaaaagca	7	19	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.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000380746.4_Silent_p.V374V	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			Somatic				DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR	p.V563V	NM_175629.2	NP_783328.1	WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	T	25467186	C	T	25467186	2	4	43	1	0	0	0	0	0	0	0	1	4676	581	21	2		2	DNMT3A	2	25467186	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		25467186	217732187	1	2401										
CD8A	925	broad.mit.edu	37	chr2	87015654	87015654	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	gagttcaaaagagactcaccGgggacatttgcaaacacgtc	10	10	2	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.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000409781.1_Splice_Site_p.R182W|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.(655-657)Cgg>Tgg		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			Somatic				CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000352580.3_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	p.R219W	NM_001145873.1	NP_001139345.1	WXS	Illumina GAIIx	Phase_I	P01732	CD8A_HUMAN			8	1685	-			219					B4DT80|D6W5M8|Q13970|Q4ZG17	Splice_Site	SNP	ENST00000409511.2	37	c.655C>T	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	5	21	---	---	---	---	A	87015654	G	A	87015654	5	1	43	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	2	2402										
TUBA3D	113457	broad.mit.edu	37	chr2	132237011	132237011	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	gagattgttgacctagtcctGgaccggatccgcaaactggt	12	10	0	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.chr2:132237011G>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			Somatic				TUBA3D_ENST00000409047.2_3'UTR	p.L119L	NM_080386.3	NP_525125.2	WXS	Illumina GAIIx	Phase_I	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	30	190	---	---	---	---	C	132237011	G	C	132237011	2	2	43	1	0	0	0	0	0	0	0	1	16744	1335	47	4		4	TUBA3D	2	132237011	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	45221357	132237011	110962362	3	2403										
GPR78	27201	broad.mit.edu	37	chr4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	gctgcctcatccagcagaagCggcgccgccaccgcgccacc	11	20	1	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.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		Somatic				GPR78_ENST00000509216.1_3'UTR	p.R234W	NM_080819.4	NP_543009.2	WXS	Illumina GAIIx	Phase_I	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	25	112	---	---	---	---	T	8584289	C	T	8584289	3	4	43	1	0	0	0	0	1	0	0	0	6710	759	27	2	706	2	GPR78	4	8584289	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		8584289	182569987	4	2404										
ANKH	56172	broad.mit.edu	37	chr5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	ggcgtcccgtgccttattcaTtctcctctctcatttccacg	6	16	4	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.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		Somatic				ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	p.N491S	NM_054027.4	NP_473368.1	WXS	Illumina GAIIx	Phase_I	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	51	176	---	---	---	---	C	14711313	T	C	14711313	3	2	43	1	0	0	0	0	1	0	0	0	627	1493	52	2	10	2	ANKH	5	14711313	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08		14711313	166203947	5	2405										
MRPS30	10884	broad.mit.edu	37	chr5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	ccttcgcgctgaatgccgacCgctggtaccagtacttcacc	9	16	1	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.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_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		Somatic					p.R104G	NM_016640.3	NP_057724.2	WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	G	44809374	C	G	44809374	3	3	43	1	0	0	0	0	1	0	0	0	9840	652	23	4	312	4	MRPS30	5	44809374	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	30098061	44809374	136105886	6	2406										
CTNNAL1	8727	broad.mit.edu	37	chr9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	ttctaaatttccttctactcCagtaagttttaatgctttta	3	8	2	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.chr9:111735029C>T	ENST00000325551.4	-	9	1359	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR	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		Somatic				CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	p.G425R			WXS	Illumina GAIIx	Phase_I	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	29	107	---	---	---	---	T	111735029	C	T	111735029	3	4	43	1	0	0	0	0	1	0	0	0	4015	603	21	2	975	2	CTNNAL1	9	111735029	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		111735029	29478402	7	2407										
TBC1D13	54662	broad.mit.edu	37	chr9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-													0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	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_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs	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)cagfs		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		Somatic				TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000466056.1_3'UTR	p.Q80fs	NM_018201.3	NP_060671.3	WXS	Illumina GAIIx	Phase_I	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	43	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	8	2408										
AKAP3	10566	broad.mit.edu	37	chr12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	gatgaaattaaagaaaacacTccttaggtccttcttttctg	6	8	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.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		Somatic				RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	p.S592G	NM_001278309.1	NP_001265238.1	WXS	Illumina GAIIx	Phase_I	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	21	92	---	---	---	---	C	4736294	T	C	4736294	3	2	43	1	0	0	0	0	1	0	0	0	452	1551	54	2	795	2	AKAP3	12	4736294	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08		4736294	129115601	9	2409										
TBX3	6926	broad.mit.edu	37	chr12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-													0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	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.(1036-1038)aaa>a		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			Somatic				TBX3_ENST00000257566.3_Splice_Site_p.K366fs	p.K346fs	NM_005996.3	NP_005987.3	WXS	Illumina GAIIx	Phase_I	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.1037_1038delAA	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	43	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	10	2410										
VPS13C	54832	broad.mit.edu	37	chr15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-													0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	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)gttgta>gta		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		Somatic				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	p.2279_2280VV>V	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	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	43	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	11	2411										
CLEC18B	497190	broad.mit.edu	37	chr16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	cacagccaggagatgcccccGgccaggggaggtctctggat	15	13	1	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.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_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		Somatic					p.R10W	NM_001011880.2	NP_001011880.2	WXS	Illumina GAIIx	Phase_I	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	12	115	---	---	---	---	A	74455141	G	A	74455141	3	1	43	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	12	2412										
C17orf56	146705	broad.mit.edu	37	chr17	79207799	79207799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	acctgcgcggccgcgcgaacCttctggtacaagctgttccc	11	16	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.chr17:79207799C>T	ENST00000300714.3	-	5	414	c.357G>A	c.(355-357)aaG>aaA	p.K119K	AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_5'UTR	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			Somatic				ENTHD2_ENST00000374769.2_5'UTR	p.K119K	NM_144679.2	NP_653280.1	WXS	Illumina GAIIx	Phase_I					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	4	39	---	---	---	---	T	79207799	C	T	79207799	2	4	43	1	0	0	0	0	0	0	0	1	1864	680	24	2		2	C17orf56	17	79207799	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		79207799	1987411	13	2413										
CSE1L	1434	broad.mit.edu	37	chr20	47692015	47692015	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	aaacacaaagatgcagccatCtacctagtgacatctttggc	7	11	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	100	---	---	---	---	T	47692015	C	T	47692015	2	4	43	1	0	0	0	0	0	0	0	1	3930	903	32	2		2	CSE1L	20	47692015	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		47692015	15333505	14	2414										
PICK1	9463	broad.mit.edu	37	chr22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.133333333333333	2	1	1.78	0	2.225	0.333333333333333	1	0	tttatgagctgtcgcagactCaccggggtaatggcatcccc	11	12	1	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.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|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	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		Somatic				RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y	p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	WXS	Illumina GAIIx	Phase_I	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	17	106	---	---	---	---	T	38467745	C	T	38467745	3	4	43	1	0	0	0	0	1	0	0	0	11881	826	29	2	576	2	PICK1	22	38467745	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		38467745	12836821	15	2415										
NEFM	4741	broad.mit.edu	37	chr8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaagaggcaaagtcaaaagCagaagtggggaaaggtgaac	16	4	1	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.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E			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		Somatic				NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron	p.A694E			WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	A	24775449	C	A	24775449	3	1	44	1	0	0	0	0	1	0	0	0	10316	710	25	3	2091	3	NEFM	8	24775449	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		24775449	121588573	1	2416										
FZD3	7976	broad.mit.edu	37	chr8	28385111	28385111	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tataaggcttccacagtgacAcaaggatctcataataaagc	7	9	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.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			Somatic				FZD3_ENST00000537916.1_Silent_p.T278T	p.T278T	NM_017412.3	NP_059108.1	WXS	Illumina GAIIx	Phase_I	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	9	206	---	---	---	---	T	28385111	A	T	28385111	2	4	44	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	2	2417										
CLVS1	157807	broad.mit.edu	37	chr8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggaagtttcaccaagcgGatgcctttagactcctggct	10	12	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.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|CLVS1_ENST00000518592.1_Intron			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		Somatic				CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y	p.D89Y			WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	T	62212651	G	T	62212651	3	4	44	1	0	0	0	0	1	0	0	0	3571	1174	41	3	267	3	CLVS1	8	62212651	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	33827540	62212651	84151371	3	2418										
ZFPM2	23414	broad.mit.edu	37	chr8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtcccaacactggccaaaCctccataaaccttctcaacc	4	17	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.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_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		Somatic				RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.T602I	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	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	16	179	---	---	---	---	T	106814115	C	T	106814115	3	4	44	1	0	0	0	0	1	0	0	0	17655	507	18	2	1835	2	ZFPM2	8	106814115	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	44601464	106814115	39549907	4	2419										
USP20	10868	broad.mit.edu	37	chr9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgtctgttgcagagcccCccgggcccattgacaacagc	11	15	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	10868				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		Somatic				USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S	p.P840S			WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	T	132641857	C	T	132641857	3	4	44	1	0	0	0	0	1	0	0	0	17049	623	22	2	2604	2	USP20	9	132641857	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		132641857	8571574	5	2420										
ACBD7	414149	broad.mit.edu	37	chr10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgtattctaaattccgtAtttttctatcagctcctttg	5	9	3	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.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		Somatic				ACBD7_ENST00000496890.1_5'UTR	p.Y86D	NM_001039844.2	NP_001034933.1	WXS	Illumina GAIIx	Phase_I	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	20	212	---	---	---	---	C	15120540	A	C	15120540	3	2	44	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	6	2421										
RAG1	5896	broad.mit.edu	37	chr11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctcatgaccaaagagactGtggatgcagtttgtgagtta	12	6	1	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.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		Somatic					p.V866M	NM_000448.2	NP_000439	WXS	Illumina GAIIx	Phase_I	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	8	116	---	---	---	---	A	36597450	G	A	36597450	3	1	44	1	0	0	0	0	1	0	0	0	13003	1377	48	2	2598	2	RAG1	11	36597450	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		36597450	98409066	7	2422										
ACAP1	9744	broad.mit.edu	37	chr17	7240074	7240074	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	atgacggtcaagctggatttCgaggagtgtctcaaggactc	13	8	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			Somatic					p.F7F	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	T	7240074	C	T	7240074	2	4	44	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	8	2423										
TOP2A	7153	broad.mit.edu	37	chr17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgaatctccctcagtcagGataagcgtacactcagtgga	10	11	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.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		Somatic					p.I458M	NM_001067.3	NP_001058.2	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	C	38564345	G	C	38564345	3	2	44	1	0	0	0	0	1	0	0	0	16362	1164	41	4	3317	4	TOP2A	17	38564345	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	31324271	38564345	42630865	9	2424										
ZBTB17	7709	broad.mit.edu	37	chr1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgccagcactgctttatgagCcttaaagtgaacaccgtcca	8	13	0	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.chr1:16274882C>A	ENST00000375743.4	-	3	341	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR	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		Somatic				ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR	p.A37S			WXS	Illumina GAIIx	Phase_I	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	7	106	---	---	---	---	A	16274882	C	A	16274882	3	1	45	1	0	0	0	0	1	0	0	0	17524	739	26	3	2358	3	ZBTB17	1	16274882	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		16274882	232975739	1	2425										
TCF19	6941	broad.mit.edu	37	chr6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccctgcggccccagcaggaGcctggcctcatctctgggat	13	16	2	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_ENST00000376266.5_5'Flank|TCF19_ENST00000376255.4_Missense_Mutation_p.E49D|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000396268.3_5'Flank|CCHCR1_ENST00000396263.2_5'Flank|CCHCR1_ENST00000451521.2_5'Flank	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		Somatic				TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	p.E49D	NM_007109.2	NP_009040.2	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	T	31127393	G	T	31127393	3	4	45	1	0	0	0	0	1	0	0	0	15686	962	34	3	149	3	TCF19	6	31127393	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		31127393	139987674	2	2426										
ZNF212	7988	broad.mit.edu	37	chr7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccccgggcagcaagggggagGcccccaaggtagtctcattg	15	13	1	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.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		Somatic					p.A136T	NM_012256.3	NP_036388.2	WXS	Illumina GAIIx	Phase_I	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	14	212	---	---	---	---	A	148947631	G	A	148947631	3	1	45	1	0	0	0	0	1	0	0	0	17765	1203	42	2	412	2	ZNF212	7	148947631	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		148947631	10191032	3	2427										
INS	723961	broad.mit.edu	37	chr11	2182081	2182081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcctcgttccccgcacactaGgtagagagcttccaccaggt	10	15	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.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L|INS-IGF2_ENST00000481781.1_5'Flank	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	723961				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			Somatic				INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	p.L41L	NM_001042376.2	NP_001035835.1	WXS	Illumina GAIIx	Phase_I	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	4	91	---	---	---	---	A	2182081	G	A	2182081	2	1	45	1	0	0	0	0	0	0	0	1	7762	991	35	2		2	INS	11	2182081	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		2182081	132824435	4	2428										
OR4D5	219875	broad.mit.edu	37	chr11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccatcacagcacctaggatGctggttgacttgctctcagg	10	12	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.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		Somatic					p.M81I	NM_001001965.1	NP_001001965.1	WXS	Illumina GAIIx	Phase_I	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	4	240	---	---	---	---	T	123810566	G	T	123810566	3	4	45	1	0	0	0	0	1	0	0	0	11057	1319	46	3	245	3	OR4D5	11	123810566	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	121628485	123810566	11195950	5	2429										
EML5	161436	broad.mit.edu	37	chr14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacttacaaatttttctggaCatgggaagtcaaataactta	6	6	2	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.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		Somatic				EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y	p.C1928Y	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	T	89083083	C	T	89083083	3	4	45	1	0	0	0	0	1	0	0	0	5100	478	17	2	162	2	EML5	14	89083083	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		89083083	18266457	6	2430										
MKRN3	7681	broad.mit.edu	37	chr15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaacttattcagcaatacaaGgaggcaatgagcaacaaggc	9	8	1	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.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N	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		Somatic				MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	p.K392N	NM_005664.3	NP_005655.1	WXS	Illumina GAIIx	Phase_I	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	7	144	---	---	---	---	T	23812105	G	T	23812105	3	4	45	1	0	0	0	0	1	0	0	0	9608	991	35	1	1178	1	MKRN3	15	23812105	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		23812105	78719287	7	2431										
ABCA3	21	broad.mit.edu	37	chr16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	cccgaagcagaagtcgtcgtCcacgttgacgggactcagga	13	12	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.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		Somatic				ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	p.D444N	NM_001089.2	NP_001080.2	WXS	Illumina GAIIx	Phase_I	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	5	240	---	---	---	---	T	2354107	C	T	2354107	3	4	45	1	0	0	0	0	1	0	0	0	33	855	30	2	3872	2	ABCA3	16	2354107	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		2354107	88000646	8	2432										
ZPBP2	124626	broad.mit.edu	37	chr17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcatataaatgccattctgTtgaaattccagaacatggcc	6	9	2	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.chr17:38028691T>C	ENST00000348931.4	+	5	766	c.575T>C	c.(574-576)gTt>gCt	p.V192A	ZPBP2_ENST00000377940.3_Missense_Mutation_p.V170A|ZPBP2_ENST00000584588.1_Intron	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		Somatic				ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	p.V170A	NM_198844.2	NP_942141.2	WXS	Illumina GAIIx	Phase_I	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	3	126	---	---	---	---	C	38028691	T	C	38028691	3	2	45	1	0	0	0	0	1	0	0	0	18217	1725	60	2	593	2	ZPBP2	17	38028691	Missense_Mutation	SNP	T	TCGA-EJ-5503-01A-01D-1576-08		38028691	43166519	9	2433										
CROCC	9696	broad.mit.edu	37	chr1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	acctgcatctgcagaaggctCtgaccgcctgtgaacatgac	10	13	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.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		Somatic					p.L1756V	NM_014675.3	NP_055490.3	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	G	17295800	C	G	17295800	3	3	46	1	0	0	0	0	1	0	0	0	3893	912	32	4	5392	4	CROCC	1	17295800	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		17295800	231954821	1	2434										
PCSK9	255738	broad.mit.edu	37	chr1	55521763	55521763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tacagccgcgtcctcaacgcCgcctgccagcgcctggcgag	12	18	1	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.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	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			Somatic				PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	p.A299A	NM_174936.3	NP_777596.2	WXS	Illumina GAIIx	Phase_I	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	3	11	---	---	---	---	T	55521763	C	T	55521763	2	4	46	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	2435										
TRIM45	80263	broad.mit.edu	37	chr1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ggagctcccacacagagtccCcatgcttgtggatgacattg	11	12	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_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	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		Somatic				TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	p.G235V	NM_025188.3	NP_079464.2	WXS	Illumina GAIIx	Phase_I	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	4	148	---	---	---	---	A	117661174	C	A	117661174	3	1	46	1	0	0	0	0	1	0	0	0	16517	623	22	1	1058	1	TRIM45	1	117661174	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	62139411	117661174	131589447	3	2436										
RGS5	8490	broad.mit.edu	37	chr1	163122355	163122355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ccaacctctttaggagcctcCgtttgaatgaattcttcata	6	11	3	2	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_ENST00000534288.1_5'Flank|RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000527988.1_Silent_p.T15T	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			Somatic				RGS5_ENST00000527988.1_Silent_p.T15T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000367903.3_Silent_p.T143T	p.T123T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	WXS	Illumina GAIIx	Phase_I	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	126	555	---	---	---	---	T	163122355	C	T	163122355	2	4	46	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	4	2437										
KYNU	8942	broad.mit.edu	37	chr2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	aagaaatagccctaatgaatGctttgactgtaaatttacat	6	6	0	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.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_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		Somatic				KYNU_ENST00000375773.2_Missense_Mutation_p.A136S|KYNU_ENST00000409512.1_Missense_Mutation_p.A136S	p.A136S	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	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	4	144	---	---	---	---	T	143712411	G	T	143712411	3	4	46	1	0	0	0	0	1	0	0	0	8587	1319	46	3	420	3	KYNU	2	143712411	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		143712411	99486962	5	2438										
USP37	57695	broad.mit.edu	37	chr2	219353102	219353102	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ctacgaggaaggtcaatagaGaggtcattaaactgttctct	10	7	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.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000454775.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000475553.1_5'Flank	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			Somatic				USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000454775.1_Silent_p.L505L	p.L505L	NM_020935.2	NP_065986	WXS	Illumina GAIIx	Phase_I	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	22	151	---	---	---	---	T	219353102	G	T	219353102	2	4	46	1	0	0	0	0	0	0	0	1	17065	929	33	3		3	USP37	2	219353102	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	75640691	219353102	23846271	6	2439										
DZIP3	9666	broad.mit.edu	37	chr3	108347996	108347996	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tttgacatagatcctacagaAgatgaagatttacctacaac	6	8	0	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			Somatic				DZIP3_ENST00000463306.1_Silent_p.E223E	p.E223E	NM_014648.3	NP_055463.1	WXS	Illumina GAIIx	Phase_I	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	15	168	---	---	---	---	G	108347996	A	G	108347996	2	3	46	1	0	0	0	0	0	0	0	1	4865	69	3	2		2	DZIP3	3	108347996	Silent	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		108347996	89674434	7	2440										
PACRGL	133015	broad.mit.edu	37	chr4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	acctagactgattcctgtgcTaaaggcagctctggtatgtc	10	10	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.chr4:20714532T>A	ENST00000503585.1	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000360916.5_Missense_Mutation_p.L163Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_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		Somatic				PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q	p.L163Q	NM_145048.3	NP_659485.1	WXS	Illumina GAIIx	Phase_I	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	57	362	---	---	---	---	A	20714532	T	A	20714532	3	1	46	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		20714532	170439744	8	2441										
PRSS48	345062	broad.mit.edu	37	chr4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	taacactatacacagagtagGcactgtagctgaagctgttg	10	8	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.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		Somatic				SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	p.G304D	NM_183375.2	NP_899231.2	WXS	Illumina GAIIx	Phase_I	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	5	141	---	---	---	---	A	152212529	G	A	152212529	3	1	46	1	0	0	0	0	1	0	0	0	12630	1203	42	2	929	2	PRSS48	4	152212529	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	131497997	152212529	38941747	9	2442										
MCC	4163	broad.mit.edu	37	chr5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	gtgagtgggccaggtgttcaGccacactgctggatacctgc	14	11	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.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000408903.3_Missense_Mutation_p.A551G|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		Somatic				MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR	p.A361G	NM_002387.2	NP_002378	WXS	Illumina GAIIx	Phase_I	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	26	102	---	---	---	---	C	112418689	G	C	112418689	3	2	46	1	0	0	0	0	1	0	0	0	9373	971	34	4	1443	4	MCC	5	112418689	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		112418689	68496571	10	2443										
PCDHA13	56136	broad.mit.edu	37	chr5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	14	13	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.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_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	56136							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		Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W	p.R65W	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			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	9	265	---	---	---	---	T	140262046	C	T	140262046	3	4	46	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	11	2444										
ZNF323	64288	broad.mit.edu	37	chr6	28294582	28294583	+	Missense_Mutation	DNP	GA	GA	TT													0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	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.chr6:28294582_28294583GA>TT	ENST00000414429.1	-	8	1484_1485	c.581_582TC>AA	c.(580-582)aTC>aAA	p.I194K	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194K|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194K|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194K			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)|p.I194N(1)									TTTCTTTTAAGATTTCTTGCTT	0.361																																						ENST00000414429.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I194I(1)|p.I194N(1)	prostate(2)								c.(580-582)atC>atA|c.(580-582)aTc>aAc		zinc finger and SCAN domain containing 31																																				SO:0001583	missense	64288							g.chr6:28294582G>T|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.581_582delinsTT	6.37:g.28294582_28294583delinsTT	ENSP00000390076:p.Ile194Lys		Somatic				ZSCAN31_ENST00000396838.2_Silent_p.I194I|ZSCAN31_ENST00000446474.1_Silent_p.I35I|ZSCAN31_ENST00000439158.1_Silent_p.I194I|ZSCAN31_ENST00000344279.6_Silent_p.I194I|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.I194N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.I35N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.I194N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.I194N	p.I194I|p.I194N			WXS	Illumina GAIIx	Phase_I					8	1485|1484	-								Q6P178|Q8WWS5	Silent|Missense_Mutation	SNP	ENST00000414429.1	37	c.582C>A|c.581T>A	CCDS4649.1																																																																																				0.361	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		16	173|172	16	172	---	---	---	---	TT	28294583	GA	TT	28294582	3	4	46	1	0	0	0	0	1	0	0	0	17840	932	33	3	642	3	ZNF323	6	28294582	Missense_Mutation	DNP	GA	TCGA-EJ-5504-01A-01D-1576-08		28294582	142820485	12	2445										
PRPH2	5961	broad.mit.edu	37	chr6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	gcttccatctggcatacttgGctgggtccagggcgtcgtag	14	11	1	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.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		Somatic					p.A89D	NM_000322.4	NP_000313.2	WXS	Illumina GAIIx	Phase_I	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	17	106	---	---	---	---	T	42689807	G	T	42689807	3	4	46	1	0	0	0	0	1	0	0	0	12577	1203	42	3	786	3	PRPH2	6	42689807	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	14395225	42689807	128425260	13	2446										
ICK	22858	broad.mit.edu	37	chr6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ctggtaaagattttccttcaTgtactcgaagataaaataaa	6	6	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.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		Somatic				ICK_ENST00000350082.5_Missense_Mutation_p.M82L	p.M82L	NM_016513.4	NP_057597.2	WXS	Illumina GAIIx	Phase_I	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	16	68	---	---	---	---	G	52897365	T	G	52897365	3	3	46	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	14	2447										
C7orf63	79846	broad.mit.edu	37	chr7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	acttaagctttctaattcctAtgaagattttgagttgaaga	7	5	1	5			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_ENST00000316089.8_Missense_Mutation_p.Y361C|C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	90	---	---	---	---	G	89906575	A	G	89906575	3	3	46	1	0	0	0	0	1	0	0	0	2409	449	16	2	1124	2	C7orf63	7	89906575	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		89906575	69232088	15	2448										
PTPRZ1	5803	broad.mit.edu	37	chr7	121652283	121652283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	caaattccttctttcaatgaGatggtttacccttctgaaag	6	9	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.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	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	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			Somatic				PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E1061E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	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	32	195	---	---	---	---	A	121652283	G	A	121652283	2	1	46	1	0	0	0	0	0	0	0	1	12814	933	33	2		2	PTPRZ1	7	121652283	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	31745708	121652283	37486380	16	2449										
SLC39A14	23516	broad.mit.edu	37	chr8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	gttctggagacctcttcactGcccacaatttcagcgagcag	9	13	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.chr8:22265850G>A	ENST00000381237.1	+	3	417	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_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		Somatic				SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T	p.A100T	NM_015359.4	NP_056174.2	WXS	Illumina GAIIx	Phase_I	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	5	146	---	---	---	---	A	22265850	G	A	22265850	3	1	46	1	0	0	0	0	1	0	0	0	14617	1319	46	2	304	2	SLC39A14	8	22265850	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		22265850	124098172	17	2450										
MYST3	7994	broad.mit.edu	37	chr8	41800403	41800403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ctctgagaccacagagttggAcactatgactggagtccagc	11	11	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.chr8:41800403A>C	ENST00000396930.3	-	15	2887	c.2344T>G	c.(2344-2346)Tcc>Gcc	p.S782A	KAT6A_ENST00000485568.1_Missense_Mutation_p.S782A|KAT6A_ENST00000406337.1_Missense_Mutation_p.S782A|KAT6A_ENST00000265713.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	213	---	---	---	---	C	41800403	A	C	41800403	3	2	46	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	18	2451										
TJP2	9414	broad.mit.edu	37	chr9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tgacagtgactcagaaatagAaggtaaaggaagaggaggct	14	4	1	5			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_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G	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		Somatic				TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G|TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G	p.E403G	NM_004817.3	NP_004808.2	WXS	Illumina GAIIx	Phase_I	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	11	53	---	---	---	---	G	71841089	A	G	71841089	3	3	46	1	0	0	0	0	1	0	0	0	15927	246	9	2	1391	2	TJP2	9	71841089	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		71841089	69372342	19	2452										
ZBTB34	403341	broad.mit.edu	37	chr9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	aagctttgcgcagccgcttaCaggaggaggggcactcagac	14	11	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.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*		Somatic				ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	p.Q199*	NM_001099270.1	NP_001092740.1	WXS	Illumina GAIIx	Phase_I	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	16	83	---	---	---	---	T	129642273	C	T	129642273	4	4	46	1	0	0	0	0	0	1	0	0	17534	479	17	2	585	2	ZBTB34	9	129642273	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	57801184	129642273	11571158	20	2453										
DHX32	55760	broad.mit.edu	37	chr10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	cgtctcacacatttgctgttCcttattcattgttgacacag	6	11	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.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000368759.5_Intron	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*		Somatic				BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*	p.E726*	NM_018180.2	NP_060650.2	WXS	Illumina GAIIx	Phase_I	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	11	90	---	---	---	---	A	127525312	C	A	127525312	4	1	46	1	0	0	0	0	0	1	0	0	4505	864	30	3	59	3	DHX32	10	127525312	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		127525312	8009435	21	2454										
OR5R1	219479	broad.mit.edu	37	chr11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ttggtaattcctttcagaatGaatacagtgacataaatgat	7	5	1	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.chr11:56185673G>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		Somatic					p.F12L	NM_001004744.1	NP_001004744.1	WXS	Illumina GAIIx	Phase_I	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	6	235	---	---	---	---	T	56185673	G	T	56185673	3	4	46	1	0	0	0	0	1	0	0	0	11180	1281	45	3	940	3	OR5R1	11	56185673	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		56185673	78820843	22	2455										
HRASLS5	117245	broad.mit.edu	37	chr11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	atagatggcccagtgctcatAgccaattcgaaaaatctcaa	7	10	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.chr11:63235886A>T	ENST00000301790.4	-	4	586	c.427T>A	c.(427-429)Tat>Aat	p.Y143N	HRASLS5_ENST00000540857.1_Missense_Mutation_p.Y133N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N			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		Somatic				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|NP_473449.1	WXS	Illumina GAIIx	Phase_I	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	7	180	---	---	---	---	T	63235886	A	T	63235886	3	4	46	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	23	2456										
MMP12	4321	broad.mit.edu	37	chr11	102742648	102742648	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ccggattgcgtagtcaacatCctcacggttcatgtcaggtg	11	11	4	0	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			Somatic								WXS	Illumina GAIIx	Phase_I	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	10	44	---	---	---	---	A	102742648	C	A	102742648	1	1	46	0	1	0	0	0	0	0	0	0	9651	855	30	3		3	MMP12	11	102742648	RNA	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	39506762	102742648	32263868	24	2457										
HINFP	25988	broad.mit.edu	37	chr11	119002676	119002676	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ttcttagatcacatccgtcgCcagacctcattggatcgtaa	7	12	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	21	120	---	---	---	---	G	119002676	C	G	119002676	2	3	46	1	0	0	0	0	0	0	0	1	7110	726	26	4		4	HINFP	11	119002676	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	16260028	119002676	16003840	25	2458										
MYH6	4624	broad.mit.edu	37	chr14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tcagcttagcgatgatttcaTccagcccagccatctcctct	6	15	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.chr14:23862693T>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		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	p.D988G	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	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	61	253	---	---	---	---	C	23862693	T	C	23862693	3	2	46	1	0	0	0	0	1	0	0	0	10038	1435	50	2	2924	2	MYH6	14	23862693	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08		23862693	83486847	26	2459										
C14orf178	283579	broad.mit.edu	37	chr14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tatcgaggaccccaatcaacAacccacctggtgagcgccat	8	15	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.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron|C14orf178_ENST00000439131.2_5'UTR|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|SNW1_ENST00000261531.7_Intron	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		Somatic				C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R|SNW1_ENST00000555761.1_Intron|SNW1_ENST00000554775.1_Intron	p.Q22R	NM_174943.3	NP_777603.1	WXS	Illumina GAIIx	Phase_I	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	19	98	---	---	---	---	G	78227450	A	G	78227450	3	3	46	1	0	0	0	0	1	0	0	0	1761	130	5	2	67	2	C14orf178	14	78227450	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	54364757	78227450	29122090	27	2460										
CKB	1152	broad.mit.edu	37	chr14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	caccaggaaggtcttattgtCattgtgcctgcgggagggct	14	9	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.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		Somatic					p.D221Y	NM_001823.4	NP_001814.2	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	A	103986922	C	A	103986922	3	1	46	1	0	0	0	0	1	0	0	0	3446	826	29	3	496	3	CKB	14	103986922	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	25759472	103986922	3362618	28	2461										
JAG2	3714	broad.mit.edu	37	chr14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	agtggcgctgtagtagttctCgtcgcagcgcacgcggatct	14	11	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.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		Somatic				RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E200K	p.E200K	NM_002226.4	NP_002217.3	WXS	Illumina GAIIx	Phase_I	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	6	23	---	---	---	---	T	105622204	C	T	105622204	3	4	46	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	29	2462										
TMOD2	29767	broad.mit.edu	37	chr15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ctcagaagaggaactgaaacAgttggaaaatgttctagatg	11	5	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.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		Somatic				TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R	p.Q31R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	WXS	Illumina GAIIx	Phase_I	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	29	132	---	---	---	---	G	52058730	A	G	52058730	3	3	46	1	0	0	0	0	1	0	0	0	16231	188	7	2	94	2	TMOD2	15	52058730	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		52058730	50472662	30	2463										
ONECUT1	3175	broad.mit.edu	37	chr15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	aactccggctcctgcagccaCttccacatcctccggaaggt	8	17	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.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		Somatic				ONECUT1_ENST00000561401.2_Intron	p.K352N	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	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	20	62	---	---	---	---	A	53081026	C	A	53081026	3	1	46	1	0	0	0	0	1	0	0	0	10868	564	20	3	349	3	ONECUT1	15	53081026	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	1022296	53081026	49450366	31	2464										
CLDN9	9080	broad.mit.edu	37	chr16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ggagggcctgtggatgtcctGcgtggtgcagagcacgggcc	19	10	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.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		Somatic					p.C54S	NM_020982.3	NP_066192.1	WXS	Illumina GAIIx	Phase_I	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	24	130	---	---	---	---	C	3063524	G	C	3063524	3	2	46	1	0	0	0	0	1	0	0	0	3492	1319	46	4	163	4	CLDN9	16	3063524	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		3063524	87291229	32	2465										
IL4R	3566	broad.mit.edu	37	chr16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	ccttcttccaccttcgggaaGtacgagtgctcacatgccct	8	15	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	35	141	---	---	---	---	T	27373986	G	T	27373986	3	4	46	1	0	0	0	0	1	0	0	0	7698	1029	36	3	1365	3	IL4R	16	27373986	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	24310462	27373986	62980767	33	2466										
PLCB4	5332	broad.mit.edu	37	chr20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	tttgcagatatctgatgtcaGatgaaaacgccccagtcttc	8	10	3	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.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_ENST00000378501.2_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N			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		Somatic				PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N	p.D299N	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	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	12	226	---	---	---	---	A	9364889	G	A	9364889	3	1	46	1	0	0	0	0	1	0	0	0	12030	942	33	2	937	2	PLCB4	20	9364889	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		9364889	53660631	34	2467										
TRAPPC10	7109	broad.mit.edu	37	chr21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	gccggccggccaggtcttcaActccagctcgggcacacaag	12	16	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.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		Somatic					p.N1236S	NM_003274.4	NP_003265.3	WXS	Illumina GAIIx	Phase_I	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	7	39	---	---	---	---	G	45523339	A	G	45523339	3	3	46	1	0	0	0	0	1	0	0	0	16454	43	2	2	3797	2	TRAPPC10	21	45523339	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		45523339	2606556	35	2468										
GNB1L	54584	broad.mit.edu	37	chr22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	acctgaggagctggcgccccTggggcagcgtctgcagccag	16	14	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.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron|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	54584				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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	G	19808139	T	G	19808139	3	3	46	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	36	2469										
TEX13B	56156	broad.mit.edu	37	chrX	107225170	107225170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	cccaggtgcaggcctctttgAcctcgctgggcacctcgctg	12	16	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.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	56156							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		Somatic					p.V63A	NM_031273.2	NP_112563.1	WXS	Illumina GAIIx	Phase_I	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	16	171	---	---	---	---	G	107225170	A	G	107225170	3	3	46	1	0	0	0	0	1	0	0	0	15774	275	10	2	758	2	TEX13B	23	107225170	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		107225170	48045390	37	2470										
GPR50	9248	broad.mit.edu	37	chrX	150348254	150348254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.32685714285714	1.548	1.2384	1	1	0	gtttttcaggcaacatcttcGtggtcagtctctctgtggcc	10	11	5	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.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		Somatic					p.V67M	NM_004224.3	NP_004215.2	WXS	Illumina GAIIx	Phase_I	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	16	437	---	---	---	---	A	150348254	G	A	150348254	3	1	46	1	0	0	0	0	1	0	0	0	6697	1145	40	2	205	2	GPR50	23	150348254	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	43123084	150348254	4922306	38	2471										
ASH1L	55870	broad.mit.edu	37	chr1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ttggaagacttggaaggaggAcaggtagcaatcagctgtgc	15	6	1	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.chr1:155451980A>T	ENST00000368346.3	-	3	1320	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*			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*		Somatic				ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*	p.C227*			WXS	Illumina GAIIx	Phase_I	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	67	181	---	---	---	---	T	155451980	A	T	155451980	4	4	47	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	2472										
NUP133	55746	broad.mit.edu	37	chr1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gcaaggcttggccaatagcgGatagatccttctctggtggc	13	10	1	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.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		Somatic				NUP133_ENST00000537506.1_Missense_Mutation_p.I168M|NUP133_ENST00000366678.3_Missense_Mutation_p.I184M	p.I184M	NM_018230.2	NP_060700.2	WXS	Illumina GAIIx	Phase_I	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	15	88	---	---	---	---	C	229635527	G	C	229635527	3	2	47	1	0	0	0	0	1	0	0	0	10754	1164	41	4	3006	4	NUP133	1	229635527	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	74183547	229635527	19615094	2	2473										
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gctgcgctggctcaaggtgaActtcagtgaagccttcattg	12	10	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.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		Somatic				ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T	p.N285T	NM_144583.3	NP_653184.2	WXS	Illumina GAIIx	Phase_I	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	21	100	---	---	---	---	C	10918726	A	C	10918726	3	2	47	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	2474										
PTH2R	5746	broad.mit.edu	37	chr2	209358096	209358096	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ggctcagtgctcaccaccgtGacgcacagcaccagcagcca	10	17	2	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.chr2:209358096G>T	ENST00000272847.2	+	13	1578	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	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			Somatic				PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	p.V455V	NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	T	209358096	G	T	209358096	2	4	47	1	0	0	0	0	0	0	0	1	12760	1277	45	3		3	PTH2R	2	209358096	Silent	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	198439370	209358096	33841277	4	2475										
ACCN4	55515	broad.mit.edu	37	chr2	220396564	220396564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gggcagggggcatgggcagtGgcctggagatcatgctggac	20	8	1	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.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		Somatic				ASIC4_ENST00000347842.3_Missense_Mutation_p.G350S|ASIC4_ENST00000473709.1_3'UTR	p.G350S			WXS	Illumina GAIIx	Phase_I	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	51	160	---	---	---	---	A	220396564	G	A	220396564	3	1	47	1	0	0	0	0	1	0	0	0	131	1348	47	2	1054	2	ACCN4	2	220396564	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	11038468	220396564	22802809	5	2476										
DOCK10	55619	broad.mit.edu	37	chr2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ctggctatcatacttgaggtGtttggggtaaatataaattt	10	4	1	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.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		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N	p.H675N			WXS	Illumina GAIIx	Phase_I	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	29	124	---	---	---	---	T	225717687	G	T	225717687	3	4	47	1	0	0	0	0	1	0	0	0	4685	1377	48	3	4679	3	DOCK10	2	225717687	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	5321123	225717687	17481686	6	2477										
DUSP7	1849	broad.mit.edu	37	chr3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tgggtaggttgggtgtgacaTtgaggatatacttgatgcca	15	4	0	3	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		Somatic				DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S	p.N276S			WXS	Illumina GAIIx	Phase_I	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	47	169	---	---	---	---	C	52088081	T	C	52088081	3	2	47	1	0	0	0	0	1	0	0	0	4830	1493	52	2	440	2	DUSP7	3	52088081	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		52088081	145934349	7	2478										
ZBBX	79740	broad.mit.edu	37	chr3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	aagccatacctgcaaaagagTtgttctgtggagctttagtg	11	7	1	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.chr3:167068219T>C	ENST00000392766.2	-	9	857	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A	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		Somatic				ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A	p.T173A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	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	75	310	---	---	---	---	C	167068219	T	C	167068219	3	2	47	1	0	0	0	0	1	0	0	0	17513	1725	60	2	1937	2	ZBBX	3	167068219	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	114980138	167068219	30954211	8	2479										
ARPM1	84517	broad.mit.edu	37	chr3	169486066	169486066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	cacggcttcagctttaggttAtagtcatagatatgcttcca	8	9	2	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.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			Somatic					p.Y91Y	NM_032487.4	NP_115876.3	WXS	Illumina GAIIx	Phase_I	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	43	64	---	---	---	---	G	169486066	A	G	169486066	2	3	47	1	0	0	0	0	0	0	0	1	976	456	16	2		2	ARPM1	3	169486066	Silent	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	2417847	169486066	28536364	9	2480										
HSPA1B	3304	broad.mit.edu	37	chr6	31797488	31797488	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ctggacgccaacaccttggcCgagaaggacgagtttgagca	13	11	0	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			Somatic				HSPA1B_ENST00000545241.1_Silent_p.A496A	p.A587A	NM_005346.4	NP_005337.2	WXS	Illumina GAIIx	Phase_I	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	9	48	---	---	---	---	G	31797488	C	G	31797488	2	3	47	1	0	0	0	0	0	0	0	1	7409	639	23	4		4	HSPA1B	6	31797488	Silent	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		31797488	139317579	10	2481										
PI16	221476	broad.mit.edu	37	chr6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ccacaacaaggagcgcgggcGccgcggcgagaatctgttcg	15	13	1	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		Somatic					p.R84H	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	WXS	Illumina GAIIx	Phase_I	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	9	14	---	---	---	---	A	36927000	G	A	36927000	3	1	47	1	0	0	0	0	1	0	0	0	11869	1087	38	2	257	2	PI16	6	36927000	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	5129512	36927000	134188067	11	2482										
EFHC1	114327	broad.mit.edu	37	chr6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	CTATGCAATTGTTCGA	-													0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	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_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000433625.2_5'UTR	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)ggctatgcaattgttcgafs		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		Somatic				EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000433625.2_5'UTR	p.GYAIVR36fs	NM_018100.3	NP_060570.2	WXS	Illumina GAIIx	Phase_I	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	47	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	12	2483										
RAC1	5879	broad.mit.edu	37	chr7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	cttatgggatacagctggacAagaagattatgacagattac	10	6	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.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		Somatic				RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R|RAC1_ENST00000488373.1_3'UTR	p.Q61R	NM_006908.4	NP_008839.2	WXS	Illumina GAIIx	Phase_I	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	12	226	---	---	---	---	G	6431629	A	G	6431629	3	3	47	1	0	0	0	0	1	0	0	0	12974	130	5	2	192	2	RAC1	7	6431629	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		6431629	152707034	13	2484										
BRAF	673	broad.mit.edu	37	chr7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	cacatgtttgacagcggaaaCcctggaaaagcagctttcga	10	10	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.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		Somatic					p.G258V	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	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	11	75	---	---	---	---	A	140501299	C	A	140501299	3	1	47	1	0	0	0	0	1	0	0	0	1496	507	18	3	1579	3	BRAF	7	140501299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	134069670	140501299	18637364	14	2485										
MLLT3	4300	broad.mit.edu	37	chr9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	caaagtgctgtatgttactgTgctccggaccgcgtacgaac	11	11	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.chr9:20620724T>C	ENST00000380338.4	-	2	408	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R	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		Somatic				MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R	p.H41R	NM_004529.2	NP_004520.2	WXS	Illumina GAIIx	Phase_I	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	47	216	---	---	---	---	C	20620724	T	C	20620724	3	2	47	1	0	0	0	0	1	0	0	0	9628	1696	59	2	1624	2	MLLT3	9	20620724	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		20620724	120592707	15	2486										
RFK	55312	broad.mit.edu	37	chr9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gtttcttagcttcttcaataTcaccttgaattgctgaaata	5	8	4	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.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		Somatic					p.D122V	NM_018339.5	NP_060809.3	WXS	Illumina GAIIx	Phase_I	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	15	267	---	---	---	---	A	79002418	T	A	79002418	3	1	47	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	16	2487										
XRRA1	143570	broad.mit.edu	37	chr11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gggaacctcaggatgtacctCttgcttgtcagcgatgttac	11	10	3	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.chr11:74618288C>G	ENST00000340360.6	-	9	994	c.663G>C	c.(661-663)aaG>aaC	p.K221N	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N|XRRA1_ENST00000533598.1_5'Flank|RP11-147I3.1_ENST00000533875.1_RNA	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		Somatic				RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N	p.K221N	NM_182969.2	NP_892014.1	WXS	Illumina GAIIx	Phase_I	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	20	105	---	---	---	---	G	74618288	C	G	74618288	3	3	47	1	0	0	0	0	1	0	0	0	17458	912	32	4	1759	4	XRRA1	11	74618288	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		74618288	60388228	17	2488										
HEPHL1	341208	broad.mit.edu	37	chr11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tagcagctgaaaaaattcttTgggattatgctcctcaaggc	9	8	2	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.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		Somatic					p.W391R	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	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	15	33	---	---	---	---	C	93803647	T	C	93803647	3	2	47	1	0	0	0	0	1	0	0	0	7055	1812	63	2	1193	2	HEPHL1	11	93803647	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	19185359	93803647	41202869	18	2489										
TIMELESS	8914	broad.mit.edu	37	chr12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	cttcttcttcctctgccccaCgttcctctgggccctgctgc	7	19	4	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.chr12:56817470C>T	ENST00000553532.1	-	17	2138	c.1988G>A	c.(1987-1989)cGt>cAt	p.R663H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R662H|TIMELESS_ENST00000554616.1_Intron					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		Somatic				TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H|TIMELESS_ENST00000554616.1_Intron	p.R662H	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	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	13	40	---	---	---	---	T	56817470	C	T	56817470	3	4	47	1	0	0	0	0	1	0	0	0	15901	536	19	2	1690	2	TIMELESS	12	56817470	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		56817470	77034425	19	2490										
FAM63B	54629	broad.mit.edu	37	chr15	59064095	59064095	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tgcagcgacccgagccctccTggggaatctccgagcctgga	13	15	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	FAM63B_ENST00000450403.2_Silent_p.P167P|RP11-30K9.6_ENST00000500929.2_lincRNA			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			Somatic				FAM63B_ENST00000450403.2_Silent_p.P167P	p.P167P			WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	G	59064095	T	G	59064095	2	3	47	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	20	2491										
C16orf54	283897	broad.mit.edu	37	chr16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gatctgctccaaggtgacccGtggctggaggccccactcag	13	14	2	1	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		Somatic					p.R204W	NM_175900.3	NP_787096.2	WXS	Illumina GAIIx	Phase_I	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	6	31	---	---	---	---	A	29755663	G	A	29755663	3	1	47	1	0	0	0	0	1	0	0	0	1819	1144	40	2	68	2	C16orf54	16	29755663	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08		29755663	60599090	21	2492										
ITGAD	3681	broad.mit.edu	37	chr16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tggtcagcctctactatccaGcagggctgtcgcaccgacgg	12	14	2	0	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		Somatic					p.A822T	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	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	41	132	---	---	---	---	A	31427932	G	A	31427932	3	1	47	1	0	0	0	0	1	0	0	0	7884	971	34	2	2542	2	ITGAD	16	31427932	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	1672269	31427932	58926821	22	2493										
CNOT1	23019	broad.mit.edu	37	chr16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ctgagctggaagaattcaacAgggcaaggccaaaaattacc	10	9	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.chr16:58621140A>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		Somatic				CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R|CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R	p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	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	29	135	---	---	---	---	C	58621140	A	C	58621140	3	2	47	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	23	2494										
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	11	7	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.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	44	199	---	---	---	---	G	47696688	T	G	47696688	3	3	47	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	24	2495										
DNMT1	1786	broad.mit.edu	37	chr19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	cccagccagcttgatcaggtCccgcatgcagggtgtcagga	13	13	2	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_ENST00000359526.4_Missense_Mutation_p.D599N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N			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		Somatic				DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N	p.D583N			WXS	Illumina GAIIx	Phase_I	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	25	98	---	---	---	---	T	10265299	C	T	10265299	3	4	47	1	0	0	0	0	1	0	0	0	4675	855	30	2	3187	2	DNMT1	19	10265299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		10265299	48863684	25	2496										
CYP2A6	1548	broad.mit.edu	37	chr19	41351368	41351368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tcttgccgatcactctgtcaAtctcctcatggaccttggct	7	14	6	0	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		Somatic				CTC-490E21.12_ENST00000601627.1_Intron	p.I331T	NM_000762.5	NP_000753	WXS	Illumina GAIIx	Phase_I	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	5	173	---	---	---	---	G	41351368	A	G	41351368	3	3	47	1	0	0	0	0	1	0	0	0	4162	101	4	2	504	2	CYP2A6	19	41351368	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	31086069	41351368	17777615	26	2497										
LIG1	3978	broad.mit.edu	37	chr19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	tgggctggtccccgtcttctCcttccttctctgtggccact	9	16	3	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.chr19:48654539C>T	ENST00000263274.7	-	7	943	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E	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		Somatic				LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000599165.1_5'UTR	p.G175E	NM_000234.1	NP_000225.1	WXS	Illumina GAIIx	Phase_I	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	66	248	---	---	---	---	T	48654539	C	T	48654539	3	4	47	1	0	0	0	0	1	0	0	0	8781	855	30	2	2323	2	LIG1	19	48654539	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	7303171	48654539	10474444	27	2498										
ADRA1D	146	broad.mit.edu	37	chr20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	gggcgcacgctgcctctgcgCgctgcgcgcccccggcgcgg	17	19	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.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		Somatic					p.R528H	NM_000678.3	NP_000669.1	WXS	Illumina GAIIx	Phase_I	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	18	62	---	---	---	---	T	4202306	C	T	4202306	3	4	47	1	0	0	0	0	1	0	0	0	336	768	27	2	139	2	ADRA1D	20	4202306	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		4202306	58823214	28	2499										
RALGAPA2	57186	broad.mit.edu	37	chr20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	TTTA	-													0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	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																																						ENST00000202677.7																			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)ataaagfs		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		Somatic					p.IK586fs	NM_020343.3	NP_065076.2	WXS	Illumina GAIIx	Phase_I	Q2PPJ7	RGPA2_HUMAN			14	1764_1767	-								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	47	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	29	2500										
HCFC1	3054	broad.mit.edu	37	chrX	153224170	153224170	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0333333333333333	1	1	0.767272727272727	2.81333333333333	0	1	1	0	ttctgggtggcagcggccgcAgcggccagtgcggccatccc	16	15	1	0	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_ENST00000354233.3_Silent_p.A482A|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Silent_p.A551A	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			Somatic				HCFC1_ENST00000369984.4_Silent_p.A551A|HCFC1_ENST00000354233.3_Silent_p.A482A	p.A551A	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	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	14	16	---	---	---	---	C	153224170	A	C	153224170	2	2	47	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	30	2501										
SGIP1	84251	broad.mit.edu	37	chr1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcatcaggtgaagaagtggCaagacccaggcgttccacac	12	11	1	3			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_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron	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		Somatic				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|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E	p.A174E	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	A	67137639	C	A	67137639	3	1	48	1	0	0	0	0	1	0	0	0	14206	710	25	3	563	3	SGIP1	1	67137639	Missense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		67137639	182112982	1	2502										
PCDHGA2	56113	broad.mit.edu	37	chr5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctggaccagaacgacaacGcgcccgagatcctgtaccct	10	15	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.chr5:140720213G>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	56113							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		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.A559T	NM_018915.2	NP_061738.1	WXS	Illumina GAIIx	Phase_I			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	14	278	---	---	---	---	A	140720213	G	A	140720213	3	1	48	1	0	0	0	0	1	0	0	0	11554	1087	38	2	1677	2	PCDHGA2	5	140720213	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		140720213	40195047	2	2503										
ANKMY2	57037	broad.mit.edu	37	chr7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttgacacgaacattcttGctggataataatgttccagc	8	9	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.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		Somatic				ANKMY2_ENST00000421746.1_5'UTR	p.S34R	NM_020319.2	NP_064715.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	C	16676046	G	C	16676046	3	2	48	1	0	0	0	0	1	0	0	0	635	1310	46	4	1259	4	ANKMY2	7	16676046	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		16676046	142462617	3	2504										
MFHAS1	9258	broad.mit.edu	37	chr8	8749969	8749969	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagggccaccagctgcagCagctgccgggggaaggcagt	16	13	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.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			Somatic					p.L200L	NM_004225.2	NP_004216.2	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	A	8749969	C	A	8749969	2	1	48	1	0	0	0	0	0	0	0	1	9521	697	25	3		3	MFHAS1	8	8749969	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		8749969	137614053	4	2505										
DHTKD1	55526	broad.mit.edu	37	chr10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttaatgttcgtctaagtgGccaagatgttggtcgtggaa	12	5	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.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		Somatic					p.G593D	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	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	16	349	---	---	---	---	A	12143062	G	A	12143062	3	1	48	1	0	0	0	0	1	0	0	0	4500	1203	42	2	1816	2	DHTKD1	10	12143062	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		12143062	123391685	5	2506										
TTC17	55761	broad.mit.edu	37	chr11	43513626	43513626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgccaagctctggaatgaCgccgtcatagtagccaccat	9	12	2	1	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			Somatic					p.D1069D	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	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	14	393	---	---	---	---	T	43513626	C	T	43513626	2	4	48	1	0	0	0	0	0	0	0	1	16681	535	19	2		2	TTC17	11	43513626	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		43513626	91492890	6	2507										
HCFC2	29915	broad.mit.edu	37	chr12	104487295	104487295	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatctttggcatcaaatgcTtctaatcataatagtcatgt	5	9	5	0	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			Somatic				HCFC2_ENST00000550335.1_3'UTR	p.A472A	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	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	8	197	---	---	---	---	G	104487295	T	G	104487295	2	3	48	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	7	2508										
DHX38	9785	broad.mit.edu	37	chr16	72130068	72130068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcctgtgatgggggacacCagtgaggatgcctcgatcca	14	10	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.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	TXNL4B_ENST00000423037.1_5'Flank|TXNL4B_ENST00000268483.3_5'Flank|DHX38_ENST00000536867.1_Silent_p.T4T|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			Somatic				DHX38_ENST00000536867.1_Silent_p.T4T	p.T4T	NM_014003.3	NP_054722.2	WXS	Illumina GAIIx	Phase_I	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	5	149	---	---	---	---	T	72130068	C	T	72130068	2	4	48	1	0	0	0	0	0	0	0	1	4511	581	21	2		2	DHX38	16	72130068	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		72130068	18224685	8	2509										
SGSM2	9905	broad.mit.edu	37	chr17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggactctgggggactccgaGctggaaaagaggtgggggct	20	7	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.chr17:2267466G>T	ENST00000426855.2	+	8	1096	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000268989.3_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_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		Somatic				SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D|SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D	p.E307D	NM_014853.2	NP_055668.2	WXS	Illumina GAIIx	Phase_I	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	3	83	---	---	---	---	T	2267466	G	T	2267466	3	4	48	1	0	0	0	0	1	0	0	0	14223	962	34	3	951	3	SGSM2	17	2267466	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		2267466	78927744	9	2510										
PBX1	5087	broad.mit.edu	37	chr1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	tccaggttcttccagttcttTtaacatgtcaaactctggag	7	10	4	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.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron	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		Somatic				PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000367897.1_Intron	p.F338C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	WXS	Illumina GAIIx	Phase_I	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	20	131	---	---	---	---	G	164789324	T	G	164789324	3	3	49	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		164789324	84461297	1	2511										
FER1L5	81562	broad.mit.edu	37	chr2	97369281	97369281	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	gcaaggtgaagatgagcctgGagattctgtcagagaaggaa	15	5	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	7	57	---	---	---	---	A	97369281	G	A	97369281	1	1	49	0	1	0	0	0	0	0	0	0	5814	1175	41	2		2	FER1L5	2	97369281	IGR	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		97369281	145830092	2	2512										
SCN7A	6332	broad.mit.edu	37	chr2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	acacatccaatgatgtgtctGtggaaattggtgaccttttc	9	8	1	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.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		Somatic					p.T446K	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	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	45	149	---	---	---	---	T	167304172	G	T	167304172	3	4	49	1	0	0	0	0	1	0	0	0	13923	1377	48	3	3771	3	SCN7A	2	167304172	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	69934891	167304172	75895201	3	2513										
NBEAL2	23218	broad.mit.edu	37	chr3	47036899	47036899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	gctggaaaggcccgacacgcAggtgctgtcatccgcacatt	12	13	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.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	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			Somatic				NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	p.A558A	NM_015175.2	NP_055990.1	WXS	Illumina GAIIx	Phase_I	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	17	35	---	---	---	---	G	47036899	A	G	47036899	2	3	49	1	0	0	0	0	0	0	0	1	10189	175	7	2		2	NBEAL2	3	47036899	Silent	SNP	A	TCGA-EJ-5507-01A-01D-1576-08		47036899	150985531	4	2514										
DOCK3	1795	broad.mit.edu	37	chr3	51347719	51347719	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ctgatgaagatgagtgtcttCcctcgggactggatggtaat	13	7	1	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.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			Somatic					p.F993F	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	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	8	12	---	---	---	---	T	51347719	C	T	51347719	2	4	49	1	0	0	0	0	0	0	0	1	4688	854	30	2		2	DOCK3	3	51347719	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	4310820	51347719	146674711	5	2515										
MME	4311	broad.mit.edu	37	chr3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ctacaaggagtccagaaatgCtttccgcaaggtgaagaaaa	10	8	0	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.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000493237.1_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		Somatic				MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	WXS	Illumina GAIIx	Phase_I	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	10	166	---	---	---	---	A	154860109	C	A	154860109	3	1	49	1	0	0	0	0	1	0	0	0	9645	797	28	3	1220	3	MME	3	154860109	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	103512390	154860109	43162321	6	2516										
SKIV2L	6499	broad.mit.edu	37	chr6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	aaggccctgagcaaccagaaGttccgggacttccgaaacac	10	13	0	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		Somatic				SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	p.K369N	NM_006929.4	NP_008860.4	WXS	Illumina GAIIx	Phase_I	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	48	93	---	---	---	---	C	31930258	G	C	31930258	3	2	49	1	0	0	0	0	1	0	0	0	14359	1020	36	4	1149	4	SKIV2L	6	31930258	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		31930258	139184809	7	2517										
PKHD1	5314	broad.mit.edu	37	chr6	51524058	51524058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ctagtgcaagtcacagtaggGcaattgcgctttctttttgc	10	9	2	0	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			Somatic					p.C3622C	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	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	62	151	---	---	---	---	A	51524058	G	A	51524058	2	1	49	1	0	0	0	0	0	0	0	1	11971	1195	42	2		2	PKHD1	6	51524058	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	19593800	51524058	119591009	8	2518										
SP4	6671	broad.mit.edu	37	chr7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ccattgaagaatctcaaacaCctgctgctactgagtctgaa	7	11	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.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		Somatic					p.P365A	NM_003112.3	NP_003103.2	WXS	Illumina GAIIx	Phase_I	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	8	144	---	---	---	---	G	21469876	C	G	21469876	3	3	49	1	0	0	0	0	1	0	0	0	14966	507	18	4	1103	4	SP4	7	21469876	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		21469876	137668787	9	2519										
GARS	2617	broad.mit.edu	37	chr7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-													0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	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)aagdel		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		Somatic					p.K510del	NM_002047.2	NP_002038.2	WXS	Illumina GAIIx	Phase_I	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	49	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	10	2520										
GLI3	2737	broad.mit.edu	37	chr7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ttttcttttcagtggtcgtgGagctgtgggactgggcctcc	14	9	2	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.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		Somatic				GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	p.S8C	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	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	11	161	---	---	---	---	C	42262830	G	C	42262830	3	2	49	1	0	0	0	0	1	0	0	0	6439	1174	41	4	4775	4	GLI3	7	42262830	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	11600840	42262830	116875833	11	2521										
AUTS2	26053	broad.mit.edu	37	chr7	70228041	70228041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	cacagccaataccccagccgCagacggagccccaactccga	8	19	0	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.chr7:70228041C>A	ENST00000342771.4	+	7	1249	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	310								p.Q310K(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)		ACCCCAGCCGCAGACGGAGCC	0.607																																						ENST00000342771.4																			1	Substitution - Missense(1)	p.Q310K(1)	prostate(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.(928-930)Cag>Aag		autism susceptibility candidate 2							56	61	59					7																	70228041		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70228041C>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.928C>A	7.37:g.70228041C>A	ENSP00000344087:p.Gln310Lys		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	p.Q310K	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1249	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	310					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.928C>A	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.684|7.684	0.689682|0.689682	0.14973|0.14973	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000416482|ENST00000406775;ENST00000342771	.|T;T	.|0.30714	.|1.52;1.52	5.58|5.58	2.82|2.82	0.32997|0.32997	.|.	.|1.161450	.|0.06165	.|N	.|0.676675	T|T	0.22589|0.22589	0.0545|0.0545	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.11235	.|0.004;0.004	.|B;B	.|0.13407	.|0.009;0.009	T|T	0.30563|0.30563	-0.9974|-0.9974	5|9	.|.	.|.	.|.	0.0534|0.0534	5.9757|5.9757	0.19377|0.19377	0.0:0.6404:0.1395:0.2201|0.0:0.6404:0.1395:0.2201	.|.	.|310;310	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	E|K	90|310	.|ENSP00000385263:Q310K;ENSP00000344087:Q310K	.|.	A|Q	+|+	2|1	0|0	AUTS2|AUTS2	69865977|69865977	0.008000|0.008000	0.16893|0.16893	0.055000|0.055000	0.19348|0.19348	0.329000|0.329000	0.28539|0.28539	2.304000|2.304000	0.43655|0.43655	0.317000|0.317000	0.23160|0.23160	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.607	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			3	38	3	38	---	---	---	---	A	70228041	C	A	70228041	3	1	49	1	0	0	0	0	1	0	0	0	1225	711	25	3	1099	3	AUTS2	7	70228041	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	27965211	70228041	88910622	12	2522										
PTPRD	5789	broad.mit.edu	37	chr9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	cggtgtttgaaagttaaggcGcctcagttctacagggtctg	13	8	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.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C	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)	Somatic				PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C	p.R1323C	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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	7	291	---	---	---	---	A	8449746	G	A	8449746	3	1	49	1	0	0	0	0	1	0	0	0	12799	1087	38	2	1869	2	PTPRD	9	8449746	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		8449746	132763685	13	2523										
TRPM6	140803	broad.mit.edu	37	chr9	77448965	77448965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	atgacaccccaaggagggatTccaactgtccagatttttct	8	11	1	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.chr9:77448965T>C	ENST00000360774.1	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000376872.3_Silent_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	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			Somatic				TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR	p.G206G			WXS	Illumina GAIIx	Phase_I	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	60	122	---	---	---	---	C	77448965	T	C	77448965	2	2	49	1	0	0	0	0	0	0	0	1	16587	1770	62	2		2	TRPM6	9	77448965	Silent	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	68999219	77448965	63764466	14	2524										
SYK	6850	broad.mit.edu	37	chr9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	tgatgggctttatttgctgcGccagagccgcaactacctgg	12	11	0	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.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375746.1_Missense_Mutation_p.R42H|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		Somatic				SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	p.R42H	NM_003177.5	NP_003168.2	WXS	Illumina GAIIx	Phase_I	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	6	13	---	---	---	---	A	93606305	G	A	93606305	3	1	49	1	0	0	0	0	1	0	0	0	15435	1087	38	2	127	2	SYK	9	93606305	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	16157340	93606305	47607126	15	2525										
CARD9	64170	broad.mit.edu	37	chr9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	cgtctccagctgctgccgccTgagcctgccctccacggcca	10	20	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.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000371734.3_Missense_Mutation_p.R414G|CARD9_ENST00000460290.1_5'Flank	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		Somatic				CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	p.R414G	NM_052813.4	NP_434700.2	WXS	Illumina GAIIx	Phase_I	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	2	12	---	---	---	---	C	139262118	T	C	139262118	3	2	49	1	0	0	0	0	1	0	0	0	2652	1579	55	2	447	2	CARD9	9	139262118	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	45655813	139262118	1951313	16	2526										
OR4A16	81327	broad.mit.edu	37	chr11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	cgctatttccttgtcagcttGcatgggtcagctcttcatag	9	11	4	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.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		Somatic					p.C95F	NM_001005274.1	NP_001005274.1	WXS	Illumina GAIIx	Phase_I	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	10	551	---	---	---	---	T	55110960	G	T	55110960	3	4	49	1	0	0	0	0	1	0	0	0	11041	1319	46	3	286	3	OR4A16	11	55110960	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		55110960	79895556	17	2527										
MYEOV	26579	broad.mit.edu	37	chr11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-													0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	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_ENST00000535407.1_Frame_Shift_Del_p.FR111fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs	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)gcctttagafs		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		Somatic				MYEOV_ENST00000308946.3_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs	p.FR111fs			WXS	Illumina GAIIx	Phase_I	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)		169					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	49	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	13952461	69063421	65943095	18	2528										
ATM	472	broad.mit.edu	37	chr11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	atgttctctctgtttaggtcCttctatatgatccactcttt	5	10	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.chr11:108235812C>T	ENST00000452508.2	+	63	9043	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952F			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)	Somatic				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR	p.L2952F	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	4	102	---	---	---	---	T	108235812	C	T	108235812	3	4	49	1	0	0	0	0	1	0	0	0	1109	681	24	2	9096	2	ATM	11	108235812	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	39172391	108235812	26770704	19	2529										
KIAA1704	55425	broad.mit.edu	37	chr13	45594565	45594565	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	gcaggtatcttcatacaatgTaagtaagaaaataagatata	7	4	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.chr13:45594565T>A	ENST00000379151.4	+	7	907		c.e7+2		GPALPP1_ENST00000361121.2_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site	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)								c.e7+2		GPALPP motifs containing 1							68	71	70					13																	45594565		2203	4299	6502	SO:0001630	splice_region_variant	55425							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			Somatic				GPALPP1_ENST00000379151.4_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site				WXS	Illumina GAIIx	Phase_I					7	839	+								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	5	91	---	---	---	---	A	45594565	T	A	45594565	5	1	49	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	20	2530										
KLC1	3831	broad.mit.edu	37	chr14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	tgagcagtctgtggctcaacTggaggaggagaagaagcatc	15	7	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.chr14:104124043T>C	ENST00000348520.6	+	3	741	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000389744.4_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_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		Somatic				KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P	p.L141P			WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	C	104124043	T	C	104124043	3	2	49	1	0	0	0	0	1	0	0	0	8333	1580	55	2	428	2	KLC1	14	104124043	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		104124043	3225497	21	2531										
C18orf34	374864	broad.mit.edu	37	chr18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	acaggcttctaaagcttcttCaagttcttcattaacttttc	4	10	5	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.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|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		Somatic				CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K	p.E306K			WXS	Illumina GAIIx	Phase_I					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	9	47	---	---	---	---	T	30903561	C	T	30903561	3	4	49	1	0	0	0	0	1	0	0	0	1902	835	29	2	1739	2	C18orf34	18	30903561	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		30903561	47173687	22	2532										
PPP5C	5536	broad.mit.edu	37	chr19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-													0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	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)gagcccccccggfs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	49	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	23	2533										
USP29	57663	broad.mit.edu	37	chr19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	tttagaaaaagatagagattTgaaactcgggccttcattca	8	6	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.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	57663				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		Somatic				USP29_ENST00000598197.1_Missense_Mutation_p.L222S	p.L222S	NM_020903.2	NP_065954.1	WXS	Illumina GAIIx	Phase_I	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	55	139	---	---	---	---	C	57640708	T	C	57640708	3	2	49	1	0	0	0	0	1	0	0	0	17056	1821	63	2	667	2	USP29	19	57640708	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	10790318	57640708	1488275	24	2534										
SEZ6L	23544	broad.mit.edu	37	chr22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	gggtccttacctcctgccctCaggagccccggagagaggca	13	15	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_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*			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*		Somatic				SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*	p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	WXS	Illumina GAIIx	Phase_I	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	31	66	---	---	---	---	A	26688423	C	A	26688423	4	1	49	1	0	0	0	0	0	1	0	0	14143	838	29	3	152	3	SEZ6L	22	26688423	Nonsense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		26688423	24616143	25	2535										
DUSP18	150290	broad.mit.edu	37	chr22	31059967	31059967	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0384615384615385	1	1	0.540851553509781	0	0.743670886075949	1	1	0	ggctgccggaactgaactggGaaggcacacgagggtgctgt	17	9	0	1	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_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000403268.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Silent_p.F8F	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	150290					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			Somatic				DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F	p.F8F			WXS	Illumina GAIIx	Phase_I	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	16	36	---	---	---	---	A	31059967	G	A	31059967	2	1	49	1	0	0	0	0	0	0	0	1	4817	1165	41	2		2	DUSP18	22	31059967	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	4371544	31059967	20244599	26	2536										
KLHL21	9903	broad.mit.edu	37	chr1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	acatgagtccgtttagagtcGcagtcttgggggcgaaggac	15	8	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.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		Somatic				KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V|KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V	p.A466V			WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	A	6659137	G	A	6659137	3	1	50	1	0	0	0	0	1	0	0	0	8376	1087	38	2	408	2	KLHL21	1	6659137	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		6659137	242591484	1	2537										
USP48	84196	broad.mit.edu	37	chr1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gtttgcagtctataaaccaaCatatatgcatttcgagagca	7	8	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.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000400301.1_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_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		Somatic				USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	p.M415I	NM_032236.5	NP_115612.4	WXS	Illumina GAIIx	Phase_I	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	11	304	---	---	---	---	A	22056252	C	A	22056252	3	1	50	1	0	0	0	0	1	0	0	0	17076	478	17	3	1942	3	USP48	1	22056252	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	15397115	22056252	227194369	2	2538										
PLK3	1263	broad.mit.edu	37	chr1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	catccgttggccatcaggatGccaggccagaggtgaggcgc	15	12	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.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		Somatic				PLK3_ENST00000465443.1_3'UTR	p.A385S	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	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	7	38	---	---	---	---	T	45269352	G	T	45269352	3	4	50	1	0	0	0	0	1	0	0	0	12097	1319	46	3	1187	3	PLK3	1	45269352	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	23213100	45269352	203981269	3	2539										
PLA2G4A	5321	broad.mit.edu	37	chr1	186915809	186915809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	tacgaaattggcatggctaaAtatggtacttttatggctcc	9	7	0	0			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			Somatic				PLA2G4A_ENST00000442353.2_Silent_p.K298K	p.K358K	NM_024420.2	NP_077734	WXS	Illumina GAIIx	Phase_I	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	23	121	---	---	---	---	G	186915809	A	G	186915809	2	3	50	1	0	0	0	0	0	0	0	1	12001	98	4	2		2	PLA2G4A	1	186915809	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	141646457	186915809	62334812	4	2540										
DISP1	84976	broad.mit.edu	37	chr1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-													0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	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)cttggaccacagggtacctgtggtfs		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		Somatic					p.LGPQGTCG1134fs	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	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	50	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	5	2541										
XIRP2	129446	broad.mit.edu	37	chr2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	aaaacaattatctattgactCtgcaaactgtctctcacaca	3	11	4	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.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_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		Somatic				XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	p.S2496F	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	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	9	172	---	---	---	---	T	168105389	C	T	168105389	3	4	50	1	0	0	0	0	1	0	0	0	17427	913	32	2	7517	2	XIRP2	2	168105389	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		168105389	75093984	6	2542										
MSTN	2660	broad.mit.edu	37	chr2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-													0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	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)tgtfs		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		Somatic				C2orf88_ENST00000478197.1_Intron	p.C138fs	NM_005259.2	NP_005250.1	WXS	Illumina GAIIx	Phase_I	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	50	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	7	2543										
HYAL3	8372	broad.mit.edu	37	chr3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ttacctgggacaggaacctcCcagatctccggtgtgtgagg	13	11	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.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|IFRD2_ENST00000484043.1_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|IFRD2_ENST00000336089.4_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		Somatic				HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V	p.G293V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	WXS	Illumina GAIIx	Phase_I	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	27	119	---	---	---	---	A	50332156	C	A	50332156	3	1	50	1	0	0	0	0	1	0	0	0	7465	623	22	1	387	1	HYAL3	3	50332156	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		50332156	147690274	8	2544										
SENP7	57337	broad.mit.edu	37	chr3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ggaatcctctgcactcaaagAcagtgtcgaagtagtacgta	10	9	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.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P	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		Somatic				SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P	p.S910P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	WXS	Illumina GAIIx	Phase_I	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	3	98	---	---	---	---	G	101049201	A	G	101049201	3	3	50	1	0	0	0	0	1	0	0	0	14051	275	10	2	444	2	SENP7	3	101049201	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	50717045	101049201	96973229	9	2545										
ADRB2	154	broad.mit.edu	37	chr5	148206406	148206406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ctgcgcgccatggggcaaccCgggaacggcagcgccttctt	14	15	1	0			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			Somatic					p.P4P	NM_000024.5	NP_000015	WXS	Illumina GAIIx	Phase_I	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	7	88	---	---	---	---	T	148206406	C	T	148206406	2	4	50	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		148206406	32708854	10	2546										
ZNF292	23036	broad.mit.edu	37	chr6	87969899	87969899	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gactgttctcgaattttccaAgcaattactggcctaataca	6	10	1	0			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			Somatic				ZNF292_ENST00000339907.4_Silent_p.Q2179Q	p.Q2184Q	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	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	8	449	---	---	---	---	G	87969899	A	G	87969899	2	3	50	1	0	0	0	0	0	0	0	1	17823	69	3	2		2	ZNF292	6	87969899	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08		87969899	83145168	11	2547										
PLEKHG1	57480	broad.mit.edu	37	chr6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gtccagtctctaagggaaaaAtttcagtgtctcagttcaag	9	8	4	0			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		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	p.K1375N	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	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	28	195	---	---	---	---	C	151161999	A	C	151161999	3	2	50	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	12	2548										
ABCB4	5244	broad.mit.edu	37	chr7	87104731	87104731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	cccagttcaaagtcgccctcCgcgctcgtggggcgccaggc	13	17	1	0			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_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000545634.1_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			Somatic				ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A	p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	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	13	93	---	---	---	---	T	87104731	C	T	87104731	2	4	50	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		87104731	72033932	13	2549										
KCNMA1	3778	broad.mit.edu	37	chr10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	tctgtttgtcccgggactccCtggacttgggccggttctgt	13	12	2	0			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_ENST00000404857.1_Missense_Mutation_p.R1205M|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1164M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M	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		Somatic				KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M	p.R1164M	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	WXS	Illumina GAIIx	Phase_I	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	13	327	---	---	---	---	A	78647070	C	A	78647070	3	1	50	1	0	0	0	0	1	0	0	0	8073	681	24	1	78	1	KCNMA1	10	78647070	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		78647070	56887677	14	2550										
FOLR3	2352	broad.mit.edu	37	chr11	71850178	71850178	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gagtgctcacccaacctgggGccctggatccggcaggtatg	14	13	1	0			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_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G			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			Somatic				FOLR3_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G	p.G154G			WXS	Illumina GAIIx	Phase_I	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	6	48	---	---	---	---	T	71850178	G	T	71850178	2	4	50	1	0	0	0	0	0	0	0	1	5983	1203	42	3		3	FOLR3	11	71850178	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		71850178	63156338	15	2551										
FKBP4	2288	broad.mit.edu	37	chr12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	aggagaccatcccactgacaCagagatgaaggaggagcaga	13	9	0	5	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_ENST00000552469.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.6_ENST00000547834.1_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		Somatic				RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.T438R	NM_002014.3	NP_002005.1	WXS	Illumina GAIIx	Phase_I	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	2	14	---	---	---	---	G	2912357	C	G	2912357	3	3	50	1	0	0	0	0	1	0	0	0	5910	478	17	4	1351	4	FKBP4	12	2912357	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		2912357	130939538	16	2552										
DNM1L	10059	broad.mit.edu	37	chr12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	taatcactaaacttgatctcAtggatgcgggtactgatgcc	9	9	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.chr12:32871615A>G	ENST00000549701.1	+	7	732	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|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_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		Somatic				DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V	p.M220V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina GAIIx	Phase_I	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	14	312	---	---	---	---	G	32871615	A	G	32871615	3	3	50	1	0	0	0	0	1	0	0	0	4671	217	8	2	684	2	DNM1L	12	32871615	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	29959258	32871615	100980280	17	2553										
HAL	3034	broad.mit.edu	37	chr12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ttaaaggtcctcagactccgGgattttggtggatttcttgt	11	7	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.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000538703.1_3'UTR|HAL_ENST00000541929.1_Missense_Mutation_p.P444S	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		Somatic				HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	p.P652S	NM_002108.3	NP_002099.1	WXS	Illumina GAIIx	Phase_I	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	6	448	---	---	---	---	A	96368030	G	A	96368030	3	1	50	1	0	0	0	0	1	0	0	0	6947	1232	43	2	23	2	HAL	12	96368030	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	63496415	96368030	37483865	18	2554										
ZDHHC20	253832	broad.mit.edu	37	chr13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-													0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	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_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C			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)tctgaaaaggaacgt>tgt		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		Somatic				ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_In_Frame_Del_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_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C	p.89_93SEKER>C			WXS	Illumina GAIIx	Phase_I	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	50	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	19	2555										
UGGT2	55757	broad.mit.edu	37	chr13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	tcctatccattagaaaatcaAttgcattcgtgcgatcattt	5	9	2	1	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		Somatic					p.I669T	NM_020121.3	NP_064506.3	WXS	Illumina GAIIx	Phase_I	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	6	154	---	---	---	---	G	96579562	A	G	96579562	3	3	50	1	0	0	0	0	1	0	0	0	16939	101	4	2	2632	2	UGGT2	13	96579562	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	74591678	96579562	18590316	20	2556										
RALGAPA1	253959	broad.mit.edu	37	chr14	36039876	36039876	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gcacggcttgcatttatagcTgttgctctaaccataatggg	10	9	1	0			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			Somatic				RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	p.T2022T	NM_001283044.1	NP_001269973.1	WXS	Illumina GAIIx	Phase_I	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	4	66	---	---	---	---	G	36039876	T	G	36039876	2	3	50	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	21	2557										
C14orf149	112849	broad.mit.edu	37	chr14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	cattacagttttaatacctgTtcatctgcaaaaacacaaat	3	9	2	0			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_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	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		Somatic				L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	p.E266D	NM_144581.1	NP_653182.1	WXS	Illumina GAIIx	Phase_I					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	8	362	---	---	---	---	G	59942813	T	G	59942813	3	3	50	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	23902937	59942813	47406727	22	2558										
WDR72	256764	broad.mit.edu	37	chr15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ctactgataccaccaagagaGaatcttctgtgaaaataata	6	8	2	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.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y	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		Somatic				WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y	p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	WXS	Illumina GAIIx	Phase_I	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	14	119	---	---	---	---	T	54006701	G	T	54006701	3	4	50	1	0	0	0	0	1	0	0	0	17319	942	33	3	2847	3	WDR72	15	54006701	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		54006701	48524691	23	2559										
ISLR2	57611	broad.mit.edu	37	chr15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ccaagggccggggcaacagcGtcctgccttccaaacccgag	12	16	0	0			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_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_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		Somatic				ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I	p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina GAIIx	Phase_I	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	3	19	---	---	---	---	A	74426317	G	A	74426317	3	1	50	1	0	0	0	0	1	0	0	0	7859	1145	40	2	1224	2	ISLR2	15	74426317	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	20419616	74426317	28105075	24	2560										
MRM1	79154	broad.mit.edu	37	chr17	34958384	34958384	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	acctggtgccgacctctcggCtggagcttctgtttggcatg	13	12	2	0			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.chr17:34958384C>A	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'Flank|MRM1_ENST00000250156.7_Missense_Mutation_p.L49M	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GACCTCTCGGCTGGAGCTTCT	0.677																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(145-147)Ctg>Atg		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							77	79	78					17																	34958384		2203	4300	6503	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958384C>A		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958384C>A			Somatic					p.L49M	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	384	+		Breast(25;0.00957)|Ovarian(249;0.17)	49					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.145C>A	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114442	0.20795	.	.	ENSG00000129282	ENST00000250156	T	0.44881	0.91	4.79	3.82	0.43975	.	0.801655	0.11286	N	0.579836	T	0.31638	0.0803	L	0.27053	0.805	0.26881	N	0.967546	B	0.19200	0.034	B	0.23150	0.044	T	0.09292	-1.0681	10	0.46703	T	0.11	-2.8542	10.5294	0.44967	0.0:0.9051:0.0:0.0949	.	49	Q6IN84	MRM1_HUMAN	M	49	ENSP00000250156:L49M	ENSP00000250156:L49M	L	+	1	2	MRM1	32032497	0.866000	0.29940	0.041000	0.18516	0.581000	0.36288	1.755000	0.38379	2.654000	0.90174	0.555000	0.69702	CTG		0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		4	130	4	130	---	---	---	---	A	34958384	C	A	34958384	1	1	50	0	1	0	0	0	0	0	0	0	9771	796	28	3		3	MRM1	17	34958384	IGR	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		34958384	46236826	25	2561										
ESCO1	114799	broad.mit.edu	37	chr18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	aacttgaccctgaatttctcTactgcgtaacgaccttcttg	6	12	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.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*		Somatic					p.R139*	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	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	14	878	---	---	---	---	A	19154390	T	A	19154390	4	1	50	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	26	2562										
FBN3	84467	broad.mit.edu	37	chr19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	atccccggcaaagccctggcGgcaggtgcagcggtaggagc	16	13	0	0	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_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_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		Somatic				FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C	p.R1350C			WXS	Illumina GAIIx	Phase_I	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	12	43	---	---	---	---	A	8176568	G	A	8176568	3	1	50	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		8176568	50952415	27	2563										
DNM2	1785	broad.mit.edu	37	chr19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ctccgggggcgcccgaatcaAtcgcatcttccacgagcggt	12	15	2	0			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_ENST00000408974.4_Missense_Mutation_p.N363S|DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_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		Somatic				DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S	p.N363S			WXS	Illumina GAIIx	Phase_I	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	5	208	---	---	---	---	G	10904491	A	G	10904491	3	3	50	1	0	0	0	0	1	0	0	0	4672	101	4	2	1118	2	DNM2	19	10904491	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	2727923	10904491	48224492	28	2564										
LILRB5	10990	broad.mit.edu	37	chr19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ggtcaagctgtgtagctgggCgtaggtcacatcctgggggg	18	8	2	0	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	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T	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	10990				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		Somatic				LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T	p.A555T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	WXS	Illumina GAIIx	Phase_I	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	8	73	---	---	---	---	T	54754760	C	T	54754760	3	4	50	1	0	0	0	0	1	0	0	0	8794	768	27	2	113	2	LILRB5	19	54754760	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	43850269	54754760	4374223	29	2565										
LILRB1	10859	broad.mit.edu	37	chr19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ccccccaggatgtgacctacGcccagctgcacagcttgacc	9	18	0	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_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000462628.1_3'UTR	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	10859				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)	Somatic				LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T	p.A615T	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	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	4	138	---	---	---	---	A	55148219	G	A	55148219	3	1	50	1	0	0	0	0	1	0	0	0	8790	1087	38	2	1903	2	LILRB1	19	55148219	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	393459	55148219	3980764	30	2566										
N6AMT1	29104	broad.mit.edu	37	chr21	30255333	30255333	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	aaagcctgagggcctatcatAgaggctaggaatgcagatac	12	8	1	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.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			Somatic				N6AMT1_ENST00000351429.3_Silent_p.S65S	p.S65S	NM_013240.4	NP_037372	WXS	Illumina GAIIx	Phase_I	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	24	125	---	---	---	---	G	30255333	A	G	30255333	2	3	50	1	0	0	0	0	0	0	0	1	10114	407	15	2		2	N6AMT1	21	30255333	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08		30255333	17874562	31	2567										
PFKL	5211	broad.mit.edu	37	chr21	45742931	45742931	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gctggtggtcggtgggtttgAggtgagagctgcccacggac	19	8	0	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.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.(1636-1638)gAg>gGg		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			Somatic				PFKL_ENST00000349048.4_Splice_Site_p.E499G	p.E546G			WXS	Illumina GAIIx	Phase_I	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	16	1637	+			499					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.1637A>G	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	3	106	---	---	---	---	G	45742931	A	G	45742931	5	3	50	1	0	0	0	0	0	0	1	0	11764	318	11	2	1554	2	PFKL	21	45742931	Splice_Site	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	15487598	45742931	2386964	32	2568										
PIGA	5277	broad.mit.edu	37	chrX	15342939	15342939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	tactgaaggctcacataaaaTaataaggttttctggaagca	8	6	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	118	---	---	---	---	C	15342939	T	C	15342939	3	2	50	1	0	0	0	0	1	0	0	0	11884	1406	49	2	426	2	PIGA	23	15342939	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		15342939	139927621	33	2569										
HUWE1	10075	broad.mit.edu	37	chrX	53657925	53657925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	gcagtctggcctgaactgccTgcaatcgcttcctgtgatta	10	12	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.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R|HUWE1_ENST00000218328.8_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		Somatic				HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R	p.Q275R			WXS	Illumina GAIIx	Phase_I	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	3	112	---	---	---	---	C	53657925	T	C	53657925	3	2	50	1	0	0	0	0	1	0	0	0	7461	1580	55	2	12592	2	HUWE1	23	53657925	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	38314986	53657925	101612635	34	2570										
ATRX	546	broad.mit.edu	37	chrX	76940433	76940433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	ctcatctatattacctacctAcattgttcatccattccatc	1	14	3	0			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_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	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		Somatic				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	p.C220W	NM_000489.3	NP_000480.3	WXS	Illumina GAIIx	Phase_I	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	4	134	---	---	---	---	C	76940433	A	C	76940433	3	2	50	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	35	2571										
HTATSF1	27336	broad.mit.edu	37	chrX	135593930	135593930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.786363636363636	0	0.873737373737374	1	1	0	atgaaaagctgtttgaagagTcagatgacaaggaagatgaa	12	3	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.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		Somatic				HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	p.S676A	NM_001163280.1	NP_001156752.1	WXS	Illumina GAIIx	Phase_I	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	6	66	---	---	---	---	G	135593930	T	G	135593930	3	3	50	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	36	2572										
C1orf85	112770	broad.mit.edu	37	chr1	156263002	156263002	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	cacacccaggagcatcgaccTagagcaagcagagagagaga	12	11	0	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.chr1:156263002T>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			Somatic				C1orf85_ENST00000482579.1_Splice_Site		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	WXS	Illumina GAIIx	Phase_I	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	3	121	---	---	---	---	C	156263002	T	C	156263002	5	2	51	1	0	0	0	0	0	0	1	0	2062	1536	53	2	170	2	C1orf85	1	156263002	Splice_Site	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		156263002	92987619	1	2573										
CD48	962	broad.mit.edu	37	chr1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ggtcgaaagtataaaaccagGttagttgtttgtagttctca	10	5	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.chr1:160654892G>T	ENST00000368046.3	-	2	257	c.170C>A	c.(169-171)aCc>aAc	p.T57N	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.T57N|RP11-404F10.2_ENST00000598917.2_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		Somatic				CD48_ENST00000368046.3_Missense_Mutation_p.T57N	p.T57N			WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	160654892	G	T	160654892	3	4	51	1	0	0	0	0	1	0	0	0	3020	1261	44	3	573	3	CD48	1	160654892	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	4391890	160654892	88595729	2	2574										
DHX9	1660	broad.mit.edu	37	chr1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	taaaaaagatgcacaaagcaAtgctgccagagactttgtta	8	7	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.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		Somatic					p.N60S	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	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	3	135	---	---	---	---	G	182812496	A	G	182812496	3	3	51	1	0	0	0	0	1	0	0	0	4516	101	4	2	185	2	DHX9	1	182812496	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	22157604	182812496	66438125	3	2575										
C1orf101	257044	broad.mit.edu	37	chr1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	gaattgtaaatcttcctgatGgtggaattactggcatttca	9	6	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.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S	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		Somatic				C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron	p.G325S	NM_001130957.1	NP_001124429.1	WXS	Illumina GAIIx	Phase_I	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	4	155	---	---	---	---	A	244716060	G	A	244716060	3	1	51	1	0	0	0	0	1	0	0	0	1976	1348	47	2	1007	2	C1orf101	1	244716060	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	61903564	244716060	4534561	4	2576										
CNGA3	1261	broad.mit.edu	37	chr2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	acctgtgggccaacaagaagAcggtggatgagaaggaggtg	17	6	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.chr2:99012981A>G	ENST00000272602.2	+	7	1387	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000393504.1_Missense_Mutation_p.T450A|CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A			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		Somatic				CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A	p.T450A	NM_001298.2	NP_001289.1	WXS	Illumina GAIIx	Phase_I	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	17	37	---	---	---	---	G	99012981	A	G	99012981	3	3	51	1	0	0	0	0	1	0	0	0	3598	275	10	2	1374	2	CNGA3	2	99012981	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		99012981	144186392	5	2577										
C1QL2	165257	broad.mit.edu	37	chr2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	cgttcttgcagaggtccgccCacatgctggtgccgtcgccg	13	15	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.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)	Somatic					p.W220S	NM_182528.3	NP_872334.2	WXS	Illumina GAIIx	Phase_I	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	6	37	---	---	---	---	G	119915187	C	G	119915187	3	3	51	1	0	0	0	0	1	0	0	0	1959	595	21	4	212	4	C1QL2	2	119915187	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	20902206	119915187	123284186	6	2578										
ERCC3	2071	broad.mit.edu	37	chr2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	taaactgcataattccatcaGggactccagtcttgctgagc	8	11	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.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		Somatic				ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L	p.P85L			WXS	Illumina GAIIx	Phase_I	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	5	117	---	---	---	---	A	128050211	G	A	128050211	3	1	51	1	0	0	0	0	1	0	0	0	5214	1000	35	2	1954	2	ERCC3	2	128050211	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	8135024	128050211	115149162	7	2579										
FAM171B	165215	broad.mit.edu	37	chr2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	aaagcatgcatcagcccaagAtcctttacttagaagattta	6	9	1	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.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		Somatic					p.I735F	NM_177454.3	NP_803237.3	WXS	Illumina GAIIx	Phase_I	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	25	63	---	---	---	---	T	187627272	A	T	187627272	3	4	51	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	59577061	187627272	55572101	8	2580										
COL3A1	1281	broad.mit.edu	37	chr2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	tcaaggctgaaggaaatagcAaattcacctacacagttctg	8	9	3	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.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*		Somatic				COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	p.K1407*	NM_000090.3	NP_000081	WXS	Illumina GAIIx	Phase_I	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	5	115	---	---	---	---	T	189875581	A	T	189875581	4	4	51	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	9	2581										
SPAG16	79582	broad.mit.edu	37	chr2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ctctttatagtgaaagatgcAgatgtactttgtatggacat	9	5	1	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.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		Somatic				SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	p.R471G	NM_024532.4	NP_078808.3	WXS	Illumina GAIIx	Phase_I	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	4	245	---	---	---	---	G	214878685	A	G	214878685	3	3	51	1	0	0	0	0	1	0	0	0	14978	180	7	2	1477	2	SPAG16	2	214878685	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	25003104	214878685	28320688	10	2582										
GABRG1	2565	broad.mit.edu	37	chr4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ctattgaattttaaacgactGtcaaaccaggtttgggcaaa	8	7	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.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		Somatic					p.D121E	NM_173536.3	NP_775807.2	WXS	Illumina GAIIx	Phase_I	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	14	62	---	---	---	---	T	46067560	G	T	46067560	3	4	51	1	0	0	0	0	1	0	0	0	6171	1368	48	3	1058	3	GABRG1	4	46067560	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		46067560	145086716	11	2583										
ANKRD17	26057	broad.mit.edu	37	chr4	74005375	74005375	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	gcttggcccagtactggctgTccaactatcactccttgcag	9	14	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.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G873G|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			Somatic				ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	p.G986G	NM_032217.3	NP_115593.3	WXS	Illumina GAIIx	Phase_I	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	5	32	---	---	---	---	G	74005375	T	G	74005375	2	3	51	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	12	2584										
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861558	27861558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	cgcctgctgctgcccggggaGctggccaagcacgccgtgtc	15	16	0	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	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_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			Somatic					p.E106E	NM_003527.4	NP_003518.2	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	A	27861558	G	A	27861558	2	1	51	1	0	0	0	0	0	0	0	1	7154	962	34	2		2	HIST1H2BO	6	27861558	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		27861558	143253509	13	2585										
MUC17	140453	broad.mit.edu	37	chr7	100693835	100693835	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	caccagaatacaagacagtaTtggacaatgccaccgaagta	8	10	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.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			Somatic					p.L4265L	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	8	90	---	---	---	---	C	100693835	T	C	100693835	2	2	51	1	0	0	0	0	0	0	0	1	9974	1490	52	2		2	MUC17	7	100693835	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		100693835	58444828	14	2586										
LAMB1	3912	broad.mit.edu	37	chr7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	cttgaactgggattctcgctCcatcatcacgtcttctactc	6	14	5	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.chr7:107575964C>T	ENST00000222399.6	-	27	4314	c.4084G>A	c.(4084-4086)Gag>Aag	p.E1362K	LAMB1_ENST00000393561.1_Missense_Mutation_p.E1386K|LAMB1_ENST00000474380.1_5'UTR	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		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR	p.E1386K			WXS	Illumina GAIIx	Phase_I	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	145	302	---	---	---	---	T	107575964	C	T	107575964	3	4	51	1	0	0	0	0	1	0	0	0	8610	864	30	2	1308	2	LAMB1	7	107575964	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	6882129	107575964	51562699	15	2587										
PLXNA4	91584	broad.mit.edu	37	chr7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	caatcagcctgttctccttgTagtctatgaggagcatcttg	9	10	4	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.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000321063.4_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		Somatic				PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C	p.Y122C			WXS	Illumina GAIIx	Phase_I	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	4	95	---	---	---	---	C	132193088	T	C	132193088	3	2	51	1	0	0	0	0	1	0	0	0	12122	1638	57	2	5757	2	PLXNA4	7	132193088	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	24617124	132193088	26945575	16	2588										
TNKS	8658	broad.mit.edu	37	chr8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ttttttctcaattcagcatgGagcttgtgttaatgccatgg	9	7	2	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.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|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		Somatic				TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR	p.G425V	NM_003747.2	NP_003738.2	WXS	Illumina GAIIx	Phase_I	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	4	146	---	---	---	---	T	9564325	G	T	9564325	3	4	51	1	0	0	0	0	1	0	0	0	16316	1174	41	3	1304	3	TNKS	8	9564325	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		9564325	136799697	17	2589										
GOT1L1	137362	broad.mit.edu	37	chr8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	aatgttccccatcacaaggaCacagccatgtgggatctgct	9	12	2	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.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		Somatic					p.V180I	NM_152413.2	NP_689626.2	WXS	Illumina GAIIx	Phase_I	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	6	80	---	---	---	---	T	37794557	C	T	37794557	3	4	51	1	0	0	0	0	1	0	0	0	6580	478	17	2	592	2	GOT1L1	8	37794557	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	28230232	37794557	108569465	18	2590										
DCDC1	341019	broad.mit.edu	37	chr11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	tttcttcattctaatagaaaGaacaggcttggttttccgtc	7	8	3	2	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		Somatic				DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V	p.L282V			WXS	Illumina GAIIx	Phase_I	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	37	91	---	---	---	---	C	31312310	G	C	31312310	3	2	51	1	0	0	0	0	1	0	0	0	4284	942	33	4	232	4	DCDC1	11	31312310	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		31312310	103694206	19	2591										
MYBPC3	4607	broad.mit.edu	37	chr11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ggtccttggtggtctccacgCggacccggccctcggtctca	13	16	2	0	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_ENST00000399249.2_Missense_Mutation_p.R726H|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H	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																																						ENST00000545968.1																			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		Somatic				MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H	p.R726H	NM_000256.3	NP_000247.2	WXS	Illumina GAIIx	Phase_I	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	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	10	26	---	---	---	---	T	47360202	C	T	47360202	3	4	51	1	0	0	0	0	1	0	0	0	10013	768	27	2	1695	2	MYBPC3	11	47360202	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	16047892	47360202	87646314	20	2592										
CCDC88B	283234	broad.mit.edu	37	chr11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	aaagctgtggtgcggggcaaGgagttgggggaccggctgga	21	6	0	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.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'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		Somatic				CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N|CCDC88B_ENST00000301897.4_5'UTR	p.K882N	NM_032251.5	NP_115627.6	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	64116832	G	T	64116832	3	4	51	1	0	0	0	0	1	0	0	0	2864	991	35	1	2704	1	CCDC88B	11	64116832	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	16756630	64116832	70889684	21	2593										
CYP27B1	1594	broad.mit.edu	37	chr12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	actcgggcgcccagcggacgCgatggaacactctggaggcg	16	13	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		Somatic					p.R14H	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	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	7	190	---	---	---	---	T	58160784	C	T	58160784	3	4	51	1	0	0	0	0	1	0	0	0	4159	768	27	2	1521	2	CYP27B1	12	58160784	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		58160784	75691111	22	2594										
TMTC3	160418	broad.mit.edu	37	chr12	88568465	88568465	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	acattccacagaaattgggaTtgggagtctgaatatacatt	9	6	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.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			Somatic					p.D427D	NM_181783.3	NP_861448.2	WXS	Illumina GAIIx	Phase_I	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	9	201	---	---	---	---	C	88568465	T	C	88568465	2	2	51	1	0	0	0	0	0	0	0	1	16259	1490	52	2		2	TMTC3	12	88568465	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	30407681	88568465	45283430	23	2595										
FAM192A	80011	broad.mit.edu	37	chr16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ggaagttggtctcatcttcaTctaagcctcttaccatgttt	7	10	5	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.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_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000389447.5_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		Somatic				FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G	p.D83G	NM_024946.2	NP_079222.1	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	C	57206263	T	C	57206263	3	2	51	1	0	0	0	0	1	0	0	0	5523	1435	50	2	532	2	FAM192A	16	57206263	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		57206263	33148490	24	2596										
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	12	3	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.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_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	WXS	Illumina GAIIx	Phase_I	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	59	155	---	---	---	---	C	47696425	A	C	47696425	3	2	51	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	25	2597										
COL5A3	50509	broad.mit.edu	37	chr19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	accatcctctcctgggggacCgggttgccccacatggccaa	11	16	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.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		Somatic					p.G575S	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	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	6	256	---	---	---	---	T	10104082	C	T	10104082	3	4	51	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	26	2598										
CRYAA	1409	broad.mit.edu	37	chr21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	tctaccccagccggctgttcGaccagtttttcggcgagggc	12	14	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.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000398133.1_5'Flank	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		Somatic				CRYAA_ENST00000482775.1_3'UTR	p.D24N	NM_000394.2	NP_000385.1	WXS	Illumina GAIIx	Phase_I	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	32	117	---	---	---	---	A	44589279	G	A	44589279	3	1	51	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	27	2599										
KDM6A	7403	broad.mit.edu	37	chrX	44938412	44938412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.697788697788698	3.83783783783784	0	1	1	0	cctgggacttttctctactaAaactttggtggaagctaaca	8	9	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.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R	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		Somatic				KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R	p.K987R	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	G	44938412	A	G	44938412	3	3	51	1	0	0	0	0	1	0	0	0	8137	14	1	2	3038	2	KDM6A	23	44938412	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		44938412	110332148	28	2600										
LPHN2	23266	broad.mit.edu	37	chr1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	cataattaactatgccaactAccatgatacctcaccataca	2	13	1	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.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_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		Somatic				LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C	p.Y250C			WXS	Illumina GAIIx	Phase_I	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	30	130	---	---	---	---	G	82409004	A	G	82409004	3	3	52	1	0	0	0	0	1	0	0	0	8916	391	14	2	763	2	LPHN2	1	82409004	Missense_Mutation	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		82409004	166841617	1	2601										
NEK7	140609	broad.mit.edu	37	chr1	198233329	198233329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	gaactaaacatagttttggaActagcagatgctggcgacct	10	8	0	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.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			Somatic				NEK7_ENST00000538004.1_Silent_p.E112E	p.E112E	NM_133494.2	NP_598001.1	WXS	Illumina GAIIx	Phase_I	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	25	201	---	---	---	---	G	198233329	A	G	198233329	2	3	52	1	0	0	0	0	0	0	0	1	10329	40	2	2		2	NEK7	1	198233329	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08	115824325	198233329	51017292	2	2602										
ATXN7	6314	broad.mit.edu	37	chr3	63898514	63898514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	gcaatggcgacggtcggggaGcgcaggcctctgcccagtcc	16	14	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_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000538065.1_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			Somatic				ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E	p.E80E	NM_001177387.1	NP_001170858.1	WXS	Illumina GAIIx	Phase_I	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	6	29	---	---	---	---	A	63898514	G	A	63898514	2	1	52	1	0	0	0	0	0	0	0	1	1215	962	34	2		2	ATXN7	3	63898514	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		63898514	134123916	3	2603										
ADAMTS9	56999	broad.mit.edu	37	chr3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	catgcagtaaacatttcgttGtttatgccctcgaccacaag	7	11	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.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_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*		Somatic				ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA	p.Q1463*	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	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	32	153	---	---	---	---	A	64554181	G	A	64554181	4	1	52	1	0	0	0	0	0	1	0	0	273	1386	48	2	1464	2	ADAMTS9	3	64554181	Nonsense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	655667	64554181	133468249	4	2604										
ANXA6	309	broad.mit.edu	37	chr5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	agagggacttctcatacttgGtccggaagatctcccgaatg	11	10	2	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.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N	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		Somatic				ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N	p.T295N	NM_001155.4	NP_001146.2	WXS	Illumina GAIIx	Phase_I	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	7	54	---	---	---	---	T	150509002	G	T	150509002	3	4	52	1	0	0	0	0	1	0	0	0	722	1261	44	3	1197	3	ANXA6	5	150509002	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		150509002	30406258	5	2605										
COL11A2	1302	broad.mit.edu	37	chr6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	tccctggggtccccgagctcCgggctccccatctgctccct	10	20	1	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_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|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_ENST00000341947.2_Missense_Mutation_p.G1129R	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		Somatic				COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R	p.G1129R	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	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	8	141	---	---	---	---	T	33138676	C	T	33138676	3	4	52	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	6	2606										
C9orf125	84302	broad.mit.edu	37	chr9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	ctttgctgcaggaactcttgGctcatttggttcagatgcca	10	10	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.chr9:104239189G>T	ENST00000374851.1	-	4	1333	c.186C>A	c.(184-186)agC>agA	p.S62R	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_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		Somatic				TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA	p.S62R			WXS	Illumina GAIIx	Phase_I	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	30	91	---	---	---	---	T	104239189	G	T	104239189	3	4	52	1	0	0	0	0	1	0	0	0	2454	1194	42	3	1029	3	C9orf125	9	104239189	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		104239189	36974242	7	2607										
CCDC7	79741	broad.mit.edu	37	chr10	32856778	32856779	+	Missense_Mutation	DNP	GG	GG	AT													0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	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.chr10:32856778_32856779GG>AT	ENST00000362006.5	+	16	1921_1922	c.1378_1379GG>AT	c.(1378-1380)GGt>ATt	p.G460I	CCDC7_ENST00000277657.6_Missense_Mutation_p.G460I|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|C10orf68_ENST00000375028.3_De_novo_Start_OutOfFrame	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460S(1)|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)				TTCAGATTCAGGTGGACAAAGG	0.327																																						ENST00000375028.3|ENST00000362006.5																			2	Substitution - Missense(2)	p.G460S(1)|p.G460V(1)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)|NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	29|14						|c.(1378-1380)gGt>gTt		chromosome 10 open reading frame 68|coiled-coil domain containing 7																																				SO:0001583	missense	79741|221016							g.chr10:32856778G>A|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	Exception_encountered	10.37:g.32856778_32856779delinsAT	ENSP00000355078:p.Gly460Ile		Somatic				C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V|C10orf68_ENST00000375028.3_5'UTR	|p.G460V	|NM_145023.4	|NP_659460.3	WXS	Illumina GAIIx	Phase_I	Q9H943|Q96M83	CJ068_HUMAN|CCDC7_HUMAN			0|16	15|1922	+		|Breast(68;0.000207)|Prostate(175;0.0107)	|460					Q5VW55|Q8IVQ0|Q8NEQ0	Translation_Start_Site|Missense_Mutation	SNP	ENST00000362006.5	37	|c.1379G>T	CCDS7173.1																																																																																				0.327	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		9	89	9	89	---	---	---	---	AT	32856779	GG	AT	32856778	3	1	52	1	0	0	0	0	1	0	0	0	2842	1000	35	2	1436	2	CCDC7	10	32856778	Missense_Mutation	DNP	GG	TCGA-EJ-5510-01A-01D-1576-08		32856778	102677969	8	2608										
API5	8539	broad.mit.edu	37	chr11	43345105	43345105	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	gtggctgaacaggccgacctAgaacagaccttcaatccctc	9	14	1	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.chr11:43345105A>C	ENST00000531273.1	+	6	808	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000378852.3_Silent_p.L223L			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			Somatic				API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000531273.1_Silent_p.L223L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000534695.1_Intron	p.L223L	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	WXS	Illumina GAIIx	Phase_I	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	34	158	---	---	---	---	C	43345105	A	C	43345105	2	2	52	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	9	2609										
SHANK2	22941	broad.mit.edu	37	chr11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	agtgactgccatcgatctcaTtgtccatgaaggcctcttta	8	11	2	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.chr11:70319095T>C	ENST00000423696.2	-	16	4328	c.4292A>G	c.(4291-4293)aAt>aGt	p.N1431S	SHANK2_ENST00000338508.4_Missense_Mutation_p.N1811S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S			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		Somatic				SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S	p.N1811S			WXS	Illumina GAIIx	Phase_I	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	55	245	---	---	---	---	C	70319095	T	C	70319095	3	2	52	1	0	0	0	0	1	0	0	0	14265	1493	52	2	124	2	SHANK2	11	70319095	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08	26973990	70319095	64687421	10	2610										
CARD16	114769	broad.mit.edu	37	chr11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	agtcaatcaaagctcgggtcTtatccataactgtagcattt	7	9	3	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.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_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_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		Somatic				CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	p.K53T	NM_001017534.1	NP_001017534.1	WXS	Illumina GAIIx	Phase_I					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	96	447	---	---	---	---	G	104915235	T	G	104915235	3	3	52	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	11	2611										
ADAMTS20	80070	broad.mit.edu	37	chr12	43777766	43777766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	ctctgctgaactccagagccAcaggtcacagagcactacaa	8	14	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.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			Somatic					p.C1489C	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	G	43777766	A	G	43777766	2	3	52	1	0	0	0	0	0	0	0	1	266	157	6	2		2	ADAMTS20	12	43777766	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		43777766	90074129	12	2612										
TM9SF2	9375	broad.mit.edu	37	chr13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	gttctacacgaagcccttgcCtggtattatcatgggaggga	12	9	2	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.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		Somatic					p.P522L	NM_004800.1	NP_004791.1	WXS	Illumina GAIIx	Phase_I	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	43	154	---	---	---	---	T	100206634	C	T	100206634	3	4	52	1	0	0	0	0	1	0	0	0	15975	681	24	2	1619	2	TM9SF2	13	100206634	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		100206634	14963244	13	2613										
GNPNAT1	64841	broad.mit.edu	37	chr14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-													0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	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	GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs|GNPNAT1_ENST00000554421.1_5'Flank|RP11-589M4.1_ENST00000555689.1_RNA|RP11-589M4.1_ENST00000555969.1_RNA	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)cttfs		glucosamine-phosphate N-acetyltransferase 1																																				SO:0001589	frameshift_variant	64841				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		Somatic				GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	p.L141fs	NM_198066.3	NP_932332.1	WXS	Illumina GAIIx	Phase_I	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	52	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	14	2614										
TEKT1	83659	broad.mit.edu	37	chr17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	gccagcttgtccctggcatcCtttgtatccttcagcccatt	7	15	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.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		Somatic				TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	p.K272N	NM_053285.1	NP_444515.1	WXS	Illumina GAIIx	Phase_I	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	32	158	---	---	---	---	G	6716186	C	G	6716186	3	3	52	1	0	0	0	0	1	0	0	0	15749	680	24	4	452	4	TEKT1	17	6716186	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		6716186	74479024	15	2615										
DYRK1A	1859	broad.mit.edu	37	chr21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	ttgtaaaggcatatgatcgtGtggagcaagaatgggttgcc	14	5	0	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.chr21:38858790G>A	ENST00000398960.2	+	5	613	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_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)	ENST00000339659.4																			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		Somatic				DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M	p.V171M	NM_130436.2	NP_569120.1	WXS	Illumina GAIIx	Phase_I	Q13627	DYR1A_HUMAN			5	1981	+						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	36	167	---	---	---	---	A	38858790	G	A	38858790	3	1	52	1	0	0	0	0	1	0	0	0	4854	1377	48	2	556	2	DYRK1A	21	38858790	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		38858790	9271105	16	2616										
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	12	7	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: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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	11	34	---	---	---	---	T	70349258	C	T	70349258	3	4	52	1	0	0	0	0	1	0	0	0	9428	913	32	2	3772	2	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		70349258	84921302	17	2617										
ZCCHC12	170261	broad.mit.edu	37	chrX	117959282	117959282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.14864864864865	0	1.31274131274131	1	1	0	ccgccttgggcccattccatGctgaggtccctggggagaag	14	13	0	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		Somatic					p.M25I	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	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	25	46	---	---	---	---	A	117959282	G	A	117959282	3	1	52	1	0	0	0	0	1	0	0	0	17578	1319	46	2	77	2	ZCCHC12	23	117959282	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	47610024	117959282	37311278	18	2618										
FGGY	55277	broad.mit.edu	37	chr1	59805628	59805629	+	Splice_Site	DEL	AG	AG	-													0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	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_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Splice_Site	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			Somatic				FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Splice_Site		NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	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	53	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	2619										
GBP1	2633	broad.mit.edu	37	chr1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gaagtctgctacttgttgcaCaaattcggggtccagctctt	10	10	2	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.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		Somatic					p.V263M	NM_002053.2	NP_002044.2	WXS	Illumina GAIIx	Phase_I	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	23	351	---	---	---	---	T	89523762	C	T	89523762	3	4	53	1	0	0	0	0	1	0	0	0	6273	478	17	2	1015	2	GBP1	1	89523762	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	29718134	89523762	159726859	2	2620										
KCND3	3752	broad.mit.edu	37	chr1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gaacttgctggccgaggagcCcttctcggcataaaacatca	10	12	2	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.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		Somatic				KCND3_ENST00000302127.4_Missense_Mutation_p.G345S|KCND3_ENST00000315987.2_Missense_Mutation_p.G345S	p.G345S			WXS	Illumina GAIIx	Phase_I	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	35	39	---	---	---	---	T	112524316	C	T	112524316	3	4	53	1	0	0	0	0	1	0	0	0	8020	623	22	2	962	2	KCND3	1	112524316	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	23000554	112524316	136726305	3	2621										
PDE4DIP	9659	broad.mit.edu	37	chr1	145015938	145015938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	aaggaatatgtctgcacaaaCgggaccttttcaccacttct	7	11	3	0	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_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000478649.2_Silent_p.P50P|PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000369359.4_Silent_p.P121P|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			Somatic				PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000478649.2_Silent_p.P50P	p.P121P			WXS	Illumina GAIIx	Phase_I	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	73	518	---	---	---	---	T	145015938	C	T	145015938	2	4	53	1	0	0	0	0	0	0	0	1	11643	523	19	2		2	PDE4DIP	1	145015938	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	32491622	145015938	104234683	4	2622										
KCNH1	3756	broad.mit.edu	37	chr1	210977309	210977309	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gagctcctcatcctccttacCttctctgtgtcaatgcctct	5	16	4	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.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.(1579-1581)aaG>aaT		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			Somatic				KCNH1_ENST00000271751.4_Splice_Site_p.K554N	p.K527N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina GAIIx	Phase_I	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.1581G>T	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	68	113	---	---	---	---	A	210977309	C	A	210977309	5	1	53	1	0	0	0	0	0	0	1	0	8031	695	24	1	1323	1	KCNH1	1	210977309	Splice_Site	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	65961371	210977309	38273312	5	2623										
ARID4B	51742	broad.mit.edu	37	chr1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	CACTGGGTGAACAACTCTCCTCTTCAGC	-													0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	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_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs	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)gctgaagaggagagttgttcacccagtgtafs		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		Somatic				ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	p.AEEESCSPSV973fs	NM_016374.5	NP_057458.4	WXS	Illumina GAIIx	Phase_I	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	53	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	6	2624										
TTN	7273	broad.mit.edu	37	chr2	179425049	179425050	+	Frame_Shift_Ins	INS	-	-	T													0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	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_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P28604fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs			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)aaaccafs		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		Somatic				TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P19539fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P19664fs|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P26963fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P19731fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P26036fs	p.P28604fs	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86033_86034	-			26963			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	53	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	7	2625										
C2orf67	151050	broad.mit.edu	37	chr2	210968826	210968826	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gatatccttactttgactttAcctgtttttcgatgtttcga	6	8	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.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			Somatic				KANSL1L_ENST00000457374.1_Splice_Site|KANSL1L_ENST00000452086.1_Splice_Site|KANSL1L_ENST00000418791.1_Splice_Site		NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	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	7	79	---	---	---	---	C	210968826	A	C	210968826	5	2	53	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	8	2626										
DGKD	8527	broad.mit.edu	37	chr2	234296911	234296912	+	Frame_Shift_Ins	INS	-	-	A													0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	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_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs	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.(166-168)aaafs		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		Somatic				DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.K12fs	p.K56fs	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	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	53	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	9	2627										
SLC25A20	788	broad.mit.edu	37	chr3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	cagcacatctctgaaaccatTaggatatttcccaggaggtg	9	10	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.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		Somatic				SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H|SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H	p.N247H	NM_000387.5	NP_000378.1	WXS	Illumina GAIIx	Phase_I	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	82	126	---	---	---	---	G	48896044	T	G	48896044	3	3	53	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	10	2628										
ABHD10	55347	broad.mit.edu	37	chr3	111705862	111705863	+	Frame_Shift_Ins	INS	-	-	ACCTTAG													0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	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_ENST00000494817.1_Frame_Shift_Ins_p.-181fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs	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.(541-543)accfs		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		Somatic				ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.-181fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.-24fs	p.-181fs	NM_018394.2	NP_060864.1	WXS	Illumina GAIIx	Phase_I	Q9NUJ1	ABHDA_HUMAN			4	567_568	+								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	53	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	11	2629										
STXBP5L	9515	broad.mit.edu	37	chr3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	caggaaaagcatcccgcagcCttgcgcaacacattcctgga	9	14	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.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		Somatic				STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	p.L1112I	NM_014980.2	NP_055795.1	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	A	121137219	C	A	121137219	3	1	53	1	0	0	0	0	1	0	0	0	15356	681	24	1	3436	1	STXBP5L	3	121137219	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	9431357	121137219	76885211	12	2630										
FAM190A	401145	broad.mit.edu	37	chr4	91229663	91229663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ttccaccataagaaggggagTgagcctaagcaagagcctac	11	10	0	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.chr4:91229663T>C	ENST00000509176.1	+	2	516	c.228T>C	c.(226-228)agT>agC	p.S76S	CCSER1_ENST00000333691.8_Silent_p.S76S|CCSER1_ENST00000432775.2_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			Somatic				CCSER1_ENST00000432775.2_Silent_p.S76S|CCSER1_ENST00000333691.8_Silent_p.S76S	p.S76S	NM_001145065.1	NP_001138537.1	WXS	Illumina GAIIx	Phase_I					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	53	86	---	---	---	---	C	91229663	T	C	91229663	2	2	53	1	0	0	0	0	0	0	0	1	5521	1693	59	2		2	FAM190A	4	91229663	Silent	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		91229663	99924613	13	2631										
FST	10468	broad.mit.edu	37	chr5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ctgtgggaatgatggagtcaCctactccagtgcctgccacc	11	13	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.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		Somatic				FST_ENST00000256759.3_Missense_Mutation_p.T213N	p.T213N	NM_006350.3	NP_006341.1	WXS	Illumina GAIIx	Phase_I	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	13	95	---	---	---	---	A	52780040	C	A	52780040	3	1	53	1	0	0	0	0	1	0	0	0	6076	507	18	3	652	3	FST	5	52780040	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		52780040	128135220	14	2632										
SGCD	6444	broad.mit.edu	37	chr5	156184679	156184679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ggcaatatggaagccacctgCaggacagagctgagactgga	14	9	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.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			Somatic				SGCD_ENST00000517913.1_Silent_p.C221C|SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000447401.1_Silent_p.C221C	p.C220C	NM_001128209.1	NP_001121681.1	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	T	156184679	C	T	156184679	2	4	53	1	0	0	0	0	0	0	0	1	14201	718	25	2		2	SGCD	5	156184679	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	103404639	156184679	24730581	15	2633										
GFPT2	9945	broad.mit.edu	37	chr5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ggccgtgacttgctgcagggCgttctggcatttggcgaagc	16	10	1	1	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		Somatic					p.A606T	NM_005110.2	NP_005101.1	WXS	Illumina GAIIx	Phase_I	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	23	292	---	---	---	---	T	179731798	C	T	179731798	3	4	53	1	0	0	0	0	1	0	0	0	6346	768	27	2	244	2	GFPT2	5	179731798	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	23547119	179731798	1183462	16	2634										
ZSCAN23	222696	broad.mit.edu	37	chr6	28403808	28403808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gctccttggtgtgcatctctGgtctcagccactgatggcag	12	12	2	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		Somatic				ZSCAN23_ENST00000486481.1_Intron	p.P79L	NM_001012455.1	NP_001012458.1	WXS	Illumina GAIIx	Phase_I	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	5	43	---	---	---	---	A	28403808	G	A	28403808	3	1	53	1	0	0	0	0	1	0	0	0	18232	1348	47	2	945	2	ZSCAN23	6	28403808	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		28403808	142711259	17	2635										
CPNE5	57699	broad.mit.edu	37	chr6	36767797	36767797	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	aagtaatccacaatgaacttGcgcacgaagtcaggattgag	10	8	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.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			Somatic					p.R78R	NM_020939.1	NP_065990.1	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	T	36767797	G	T	36767797	2	4	53	1	0	0	0	0	0	0	0	1	3815	1306	46	3		3	CPNE5	6	36767797	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	8363989	36767797	134347270	18	2636										
SYNE1	23345	broad.mit.edu	37	chr6	152832185	152832185	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gtccacatcaatccaagaacTattgagggtcggccatcagc	9	12	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.chr6:152832185T>A	ENST00000367255.5	-	7	964	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_ENST00000448038.1_Silent_p.I128I|SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000265368.4_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)	Somatic				SYNE1_ENST00000413186.2_Silent_p.I121I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000448038.1_Silent_p.I128I	p.I121I	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	27	155	---	---	---	---	A	152832185	T	A	152832185	2	1	53	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	116064388	152832185	18282882	19	2637										
AKAP9	10142	broad.mit.edu	37	chr7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	tgagccacttcctataaaacTgagtaagagcattgcatccc	7	11	0	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.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		Somatic				AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R	p.L2786R			WXS	Illumina GAIIx	Phase_I	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	10	63	---	---	---	---	G	91712644	T	G	91712644	3	3	53	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	20	2638										
LRP12	29967	broad.mit.edu	37	chr8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	catcacaacgctgctgctcaGtataacacccccagttacct	5	16	2	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.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		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	p.T390N	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	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	23	176	---	---	---	---	T	105509611	G	T	105509611	3	4	53	1	0	0	0	0	1	0	0	0	8954	1029	36	3	1422	3	LRP12	8	105509611	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		105509611	40854411	21	2639										
ROR2	4920	broad.mit.edu	37	chr9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	agttccccagcagcttgtagTaatcggcggcatacacctct	9	13	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.chr9:94486842T>C	ENST00000375708.3	-	9	2132	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C|ROR2_ENST00000550066.1_5'UTR	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		Somatic				ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C|ROR2_ENST00000550066.1_5'UTR	p.Y645C	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	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	23	24	---	---	---	---	C	94486842	T	C	94486842	3	2	53	1	0	0	0	0	1	0	0	0	13527	1638	57	2	901	2	ROR2	9	94486842	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		94486842	46726589	22	2640										
PTPN3	5774	broad.mit.edu	37	chr9	112185102	112185102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ttccacaccatcccgccaatCacctttttgcaatattggtt	4	14	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.chr9:112185102C>T	ENST00000374541.2	-	13	1136	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	PTPN3_ENST00000412145.1_Silent_p.V213V|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	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	5774				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			Somatic				PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.V344V|PTPN3_ENST00000262539.3_Intron	p.V213V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	WXS	Illumina GAIIx	Phase_I	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	78	117	---	---	---	---	T	112185102	C	T	112185102	2	4	53	1	0	0	0	0	0	0	0	1	12789	813	29	2		2	PTPN3	9	112185102	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	17698260	112185102	29028329	23	2641										
RAPGEF1	2889	broad.mit.edu	37	chr9	134497351	134497351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	aacatagagggctgcggctcCgagtagtcctccagcaactg	12	12	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.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			Somatic				RAPGEF1_ENST00000372189.3_Silent_p.S562S|RAPGEF1_ENST00000372190.3_Silent_p.S580S	p.S579S			WXS	Illumina GAIIx	Phase_I	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	10	17	---	---	---	---	T	134497351	C	T	134497351	2	4	53	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	24	2642										
ATM	472	broad.mit.edu	37	chr11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	agatgtgtaagcgcagccttGagtctgtgtattcgctctat	11	8	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.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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.E2164K|C11orf65_ENST00000525729.1_Intron	p.E2164K	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	66	131	---	---	---	---	A	108192065	G	A	108192065	3	1	53	1	0	0	0	0	1	0	0	0	1109	1291	45	2	6664	2	ATM	11	108192065	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		108192065	26814451	25	2643										
IGSF9B	22997	broad.mit.edu	37	chr11	133790584	133790584	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ttctctccattctcctcgggGatggtggggtggccaaaggg	15	10	2	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.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			Somatic				IGSF9B_ENST00000533871.2_Silent_p.I1012I	p.I1012I			WXS	Illumina GAIIx	Phase_I	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	8	109	---	---	---	---	T	133790584	G	T	133790584	2	4	53	1	0	0	0	0	0	0	0	1	7606	1164	41	3		3	IGSF9B	11	133790584	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	25598519	133790584	1215932	26	2644										
PCDH17	27253	broad.mit.edu	37	chr13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gcccgagaacgctccgctggGtacagtggtcatcgatctga	13	12	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.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		Somatic					p.G259V	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	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	35	51	---	---	---	---	T	58207456	G	T	58207456	3	4	53	1	0	0	0	0	1	0	0	0	11512	1261	44	3	778	3	PCDH17	13	58207456	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		58207456	56962422	27	2645										
ZNF592	9640	broad.mit.edu	37	chr15	85326137	85326137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	aagaacaccagccgccaggaGtcatttgaagcggagaaaga	12	9	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.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			Somatic				ZNF592_ENST00000560079.2_Silent_p.E77E	p.E77E			WXS	Illumina GAIIx	Phase_I	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	9	83	---	---	---	---	A	85326137	G	A	85326137	2	1	53	1	0	0	0	0	0	0	0	1	18019	1020	36	2		2	ZNF592	15	85326137	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		85326137	17205255	28	2646										
MYO1D	4642	broad.mit.edu	37	chr17	30986138	30986138	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gcagcacgttcttacctattGaaaatcgtctgcagggcctc	9	12	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.chr17:30986138G>A	ENST00000318217.5	-	17	2644	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.F692F|MYO1D_ENST00000579584.1_Silent_p.F780F	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			Somatic	OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_ENST00000394649.4_Silent_p.F692F|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.F780F	p.F780F	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	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	32	61	---	---	---	---	A	30986138	G	A	30986138	2	1	53	1	0	0	0	0	0	0	0	1	10071	1281	45	2		2	MYO1D	17	30986138	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		30986138	50209072	29	2647										
GRB7	2886	broad.mit.edu	37	chr17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	cccttccctgagctctgcagTcctccctcacagagcccaat	6	19	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.chr17:37898891T>G	ENST00000309156.4	+	3	485	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_ENST00000394209.2_Missense_Mutation_p.S76R|GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R	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		Somatic				GRB7_ENST00000445327.2_Missense_Mutation_p.S99R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394209.2_Missense_Mutation_p.S76R	p.S76R	NM_005310.3	NP_005301.2	WXS	Illumina GAIIx	Phase_I	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	60	109	---	---	---	---	G	37898891	T	G	37898891	3	3	53	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	30	2648										
ETV4	2118	broad.mit.edu	37	chr17	41611325	41611325	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ggactctggggctccttcttGatcctggtggtggggctgtg	17	9	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.chr17:41611325G>A	ENST00000319349.5	-	6	583	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000545954.1_Silent_p.I56I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545089.1_Silent_p.I95I	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			Somatic				ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000591713.1_Silent_p.I95I|ETV4_ENST00000545954.1_Silent_p.I56I	p.I95I	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	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	37	18	---	---	---	---	A	41611325	G	A	41611325	2	1	53	1	0	0	0	0	0	0	0	1	5281	1280	45	2		2	ETV4	17	41611325	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	3712434	41611325	39583885	31	2649										
FZD2	2535	broad.mit.edu	37	chr17	42635479	42635479	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	cgcctgcgctgcgagcacttCccgcgccacggcgccgagca	13	19	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.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			Somatic					p.F141F	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	36	45	---	---	---	---	T	42635479	C	T	42635479	2	4	53	1	0	0	0	0	0	0	0	1	6130	854	30	2		2	FZD2	17	42635479	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	1024154	42635479	38559731	32	2650			1	9		6	6	1021	C		4.705536e-17
FZD2	2535	broad.mit.edu	37	chr17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	cctatctcagctacaagtttCtgggcgagcgtgattgtgct	11	10	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.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		Somatic					p.L216V	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	22	22	---	---	---	---	G	42635702	C	G	42635702	3	3	53	1	0	0	0	0	1	0	0	0	6130	912	32	4	648	4	FZD2	17	42635702	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	223	42635702	38559508	33	2651			1	9		6	6	1021	C		4.705536e-17
FZD2	2535	broad.mit.edu	37	chr17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	atcctcttcatgatgctctaCttcttcagcatggccagctc	6	14	5	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.chr17:42636061C>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*		Somatic					p.Y335*	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	33	71	---	---	---	---	G	42636061	C	G	42636061	4	3	53	1	0	0	0	0	0	1	0	0	6130	576	20	4	1007	4	FZD2	17	42636061	Nonsense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	359	42636061	38559149	34	2652			1	9		6	6	1021	C		4.705536e-17
FZD2	2535	broad.mit.edu	37	chr17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	aggccaactctcagtacttcCacctggccgcctgggccgtg	11	16	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.chr17:42636173C>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		Somatic					p.H373Y	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	52	90	---	---	---	---	T	42636173	C	T	42636173	3	4	53	1	0	0	0	0	1	0	0	0	6130	594	21	2	1119	2	FZD2	17	42636173	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	112	42636173	38559037	35	2653			1	9		6	6	1021	C		4.705536e-17
FZD2	2535	broad.mit.edu	37	chr17	42636211	42636211	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gtgccggccgtcaagaccatCaccatcctggccatgggcca	11	16	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.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			Somatic					p.I385I	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	53	93	---	---	---	---	T	42636211	C	T	42636211	2	4	53	1	0	0	0	0	0	0	0	1	6130	816	29	2		2	FZD2	17	42636211	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	38	42636211	38558999	36	2654			1	9		6	6	1021	C		4.705536e-17
FZD2	2535	broad.mit.edu	37	chr17	42636499	42636499	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	atcgtcatcgcttgctacttCtacgagcaggccttccgcga	9	14	2	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.chr17:42636499C>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			Somatic					p.F481F	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	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	23	36	---	---	---	---	T	42636499	C	T	42636499	2	4	53	1	0	0	0	0	0	0	0	1	6130	912	32	2		2	FZD2	17	42636499	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	288	42636499	38558711	37	2655			1	9		6	6	1021	C		4.705536e-17
LAMA1	284217	broad.mit.edu	37	chr18	6943333	6943333	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	tgccattttccatcacagagCacagtggcggttttgggctc	11	11	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.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			Somatic					p.V2971V	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	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	5	154	---	---	---	---	A	6943333	C	A	6943333	2	1	53	1	0	0	0	0	0	0	0	1	8605	697	25	3		3	LAMA1	18	6943333	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		6943333	71133915	38	2656										
CHST8	64377	broad.mit.edu	37	chr19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	tgcaggaccctacggagctcGccccccagcaggtgccaggt	13	16	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.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																																						ENST00000262622.4																			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		Somatic				CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.A38T|CHST8_ENST00000438847.3_Missense_Mutation_p.A38T	p.A38T	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			2	870	+	Esophageal squamous(110;0.162)							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	50	103	---	---	---	---	A	34180279	G	A	34180279	3	1	53	1	0	0	0	0	1	0	0	0	3410	1087	38	2	114	2	CHST8	19	34180279	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		34180279	24948704	39	2657										
FOXA2	3170	broad.mit.edu	37	chr20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ggccgcccatggccccggccGcctgccccccgagcgggctc	14	22	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.(367-369)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		Somatic				FOXA2_ENST00000377115.4_Missense_Mutation_p.A117V	p.A123V	NM_021784.4	NP_068556.2	WXS	Illumina GAIIx	Phase_I	Q9Y261	FOXA2_HUMAN			2	552	-	Lung NSC(19;0.188)		123					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.368C>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	11	17	---	---	---	---	A	22563512	G	A	22563512	3	1	53	1	0	0	0	0	1	0	0	0	5990	1087	38	2	1027	2	FOXA2	20	22563512	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		22563512	40462008	40	2658										
TH1L	51497	broad.mit.edu	37	chr20	57564072	57564072	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	tttgatgctgaacttcaccgTtaaggtaggaagagttctag	11	6	2	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.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		Somatic				NELFCD_ENST00000344018.3_Missense_Mutation_p.V176D	p.V185D	NM_198976.2	NP_945327.2	WXS	Illumina GAIIx	Phase_I					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	5	89	---	---	---	---	A	57564072	T	A	57564072	3	1	53	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	41	2659										
CXorf58	254158	broad.mit.edu	37	chrX	23934359	23934359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	gaggtgaaacgtttccacctTtcatcgtgtttaaaattttt	7	7	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.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		Somatic					p.F113L	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	WXS	Illumina GAIIx	Phase_I	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	19	7	---	---	---	---	C	23934359	T	C	23934359	3	2	53	1	0	0	0	0	1	0	0	0	4114	1841	64	2	351	2	CXorf58	23	23934359	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		23934359	131336201	42	2660										
KLHL13	90293	broad.mit.edu	37	chrX	117053579	117053579	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.186046511627907	8	0.234657135360454	3.47826086956522	6.08695652173913	3.04347826086957	0.131934731934732	1	0	ttgaaggttgtccatattaaGagaaagctttgcagtataaa	9	4	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.chrX:117053579G>C	ENST00000262820.3	-	4	1384	c.475C>G	c.(475-477)Ctt>Gtt	p.L159V	KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371876.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V|KLHL13_ENST00000371882.1_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		Somatic				KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000262820.3_Missense_Mutation_p.L159V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V	p.L108V			WXS	Illumina GAIIx	Phase_I	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	6	80	---	---	---	---	C	117053579	G	C	117053579	3	2	53	1	0	0	0	0	1	0	0	0	8369	942	33	4	1508	4	KLHL13	23	117053579	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	93119220	117053579	38216981	43	2661										
OR6K2	81448	broad.mit.edu	37	chr1	158669837	158669837	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	ataatctccactgcatgaatGacatccactacctgaatcat	4	12	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.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			Somatic					p.V202V	NM_001005279.1	NP_001005279.1	WXS	Illumina GAIIx	Phase_I	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	31	194	---	---	---	---	T	158669837	G	T	158669837	2	4	54	1	0	0	0	0	0	0	0	1	11202	1277	45	3		3	OR6K2	1	158669837	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		158669837	90580784	1	2662										
TM4SF18	116441	broad.mit.edu	37	chr3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	gaagatcactgaatagcttcCacacagtatcttggatagtt	8	8	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.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*		Somatic				RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*	p.G190*	NM_138786.3	NP_620141.1	WXS	Illumina GAIIx	Phase_I	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	3	83	---	---	---	---	A	149040066	C	A	149040066	4	1	54	1	0	0	0	0	0	1	0	0	15964	603	21	1	45	1	TM4SF18	3	149040066	Nonsense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		149040066	48982364	2	2663										
GRID2	2895	broad.mit.edu	37	chr4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	atgcctggcagaaattcattAtattctatgatagtgaatac	7	6	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.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	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		Somatic				GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	p.I170V	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	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	4	347	---	---	---	---	G	94006409	A	G	94006409	3	3	54	1	0	0	0	0	1	0	0	0	6772	449	16	2	518	2	GRID2	4	94006409	Missense_Mutation	SNP	A	TCGA-EJ-5512-01A-01D-1576-08		94006409	97147867	3	2664										
C6orf165	154313	broad.mit.edu	37	chr6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	tgcactttctactctgtggaCcagcttgcaagacgaaacta	8	11	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.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		Somatic				C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S	p.T331S			WXS	Illumina GAIIx	Phase_I	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	35	346	---	---	---	---	G	88138375	C	G	88138375	3	3	54	1	0	0	0	0	1	0	0	0	2341	507	18	4	1022	4	C6orf165	6	88138375	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		88138375	82976692	4	2665										
CYP3A43	64816	broad.mit.edu	37	chr7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	ggctgtatgaggggcaacagCccatgctggtcatcatggat	14	9	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_ENST00000477658.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000444905.1_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		Somatic				CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron	p.P80T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	A	99441785	C	A	99441785	3	1	54	1	0	0	0	0	1	0	0	0	4179	739	26	3	252	3	CYP3A43	7	99441785	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		99441785	59696878	5	2666										
AGK	55750	broad.mit.edu	37	chr7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	gagtcataccctctttgccgAaagtggaaacaaagtccagt	9	10	2	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.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000473247.1_Missense_Mutation_p.E139V|AGK_ENST00000535825.1_Missense_Mutation_p.E164V	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		Somatic				AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	p.E167V	NM_018238.3	NP_060708.1	WXS	Illumina GAIIx	Phase_I	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	68	321	---	---	---	---	T	141315347	A	T	141315347	3	4	54	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	41873562	141315347	17823316	6	2667										
NSMAF	8439	broad.mit.edu	37	chr8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	gtagctctcagcagtgtgctCcgccacatggtgctctgggg	14	12	2	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.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		Somatic				NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	p.E295K	NM_003580.3	NP_003571.2	WXS	Illumina GAIIx	Phase_I	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	23	106	---	---	---	---	T	59515931	C	T	59515931	3	4	54	1	0	0	0	0	1	0	0	0	10674	864	30	2	1946	2	NSMAF	8	59515931	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		59515931	86848091	7	2668										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	caaacccaagcttcaggagtGcaacttggatccttgtccag	9	12	1	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.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_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		Somatic				ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y	p.C354Y	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	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	38	209	---	---	---	---	A	18662047	G	A	18662047	3	1	54	1	0	0	0	0	1	0	0	0	274	1319	46	2	1095	2	ADAMTSL1	9	18662047	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		18662047	122551384	8	2669										
ZNF438	220929	broad.mit.edu	37	chr10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	actggaaagttcgatcactcCctggttggagaccgtattta	10	9	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.chr10:31133925C>G	ENST00000361310.3	-	7	2781	c.2452G>C	c.(2452-2454)Gga>Cga	p.G818R	ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R			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																																						ENST00000452305.1																			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.(2422-2424)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		Somatic				ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R	p.G808R	NM_001143770.1	NP_001137242.1	WXS	Illumina GAIIx	Phase_I	Q7Z4V0	ZN438_HUMAN			9	2985	-		Prostate(175;0.0587)	818					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2422G>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	80	364	---	---	---	---	G	31133925	C	G	31133925	3	3	54	1	0	0	0	0	1	0	0	0	17907	632	22	4	38	4	ZNF438	10	31133925	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		31133925	104400822	9	2670										
TNKS2	80351	broad.mit.edu	37	chr10	93600428	93600428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	tccgtggtggaatatctgctAcagcatggagctgatgtgca	13	8	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.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			Somatic					p.L546L	NM_025235.3	NP_079511.1	WXS	Illumina GAIIx	Phase_I	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	7	330	---	---	---	---	G	93600428	A	G	93600428	2	3	54	1	0	0	0	0	0	0	0	1	16318	378	14	2		2	TNKS2	10	93600428	Silent	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	62466503	93600428	41934319	10	2671										
MUC6	4588	broad.mit.edu	37	chr11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	ctgtgggaggcagccctgatGtggcttgtggggtgacggcc	19	9	0	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.chr11:1019457G>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		Somatic					p.T1283I	NM_005961.2	NP_005952.2	WXS	Illumina GAIIx	Phase_I	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	5	188	---	---	---	---	A	1019457	G	A	1019457	3	1	54	1	0	0	0	0	1	0	0	0	9980	1377	48	2	3487	2	MUC6	11	1019457	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		1019457	133987059	11	2672										
RPS6KB2	6199	broad.mit.edu	37	chr11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	cgtgaacgttggcccagagcGcatcgggccccactgctttg	13	14	0	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	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H|RPS6KB2_ENST00000524814.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	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		Somatic				RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H|RPS6KB2_ENST00000524814.1_3'UTR	p.R61H	NM_003952.2	NP_003943.2	WXS	Illumina GAIIx	Phase_I	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	4	192	---	---	---	---	A	67196653	G	A	67196653	3	1	54	1	0	0	0	0	1	0	0	0	13657	1087	38	2	192	2	RPS6KB2	11	67196653	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	66177196	67196653	67809863	12	2673										
ATF7IP	55729	broad.mit.edu	37	chr12	14628823	14628823	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	tgtagaagttttgtttttcaGtgtggaaaagccactggcag	12	5	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.chr12:14628823G>T	ENST00000540793.1	+	10	3017		c.e10-1		ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_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			Somatic				ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	18	101	---	---	---	---	T	14628823	G	T	14628823	5	4	54	1	0	0	0	0	0	0	1	0	1087	1043	36	3	2900	3	ATF7IP	12	14628823	Splice_Site	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		14628823	119223072	13	2674										
TRPV2	51393	broad.mit.edu	37	chr17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	ggccaagaagatggctctgaGgcggacagaggaaagctgga	17	7	1	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.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	RP11-138I1.2_ENST00000580996.1_RNA|TRPV2_ENST00000577397.1_5'UTR	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		Somatic				TRPV2_ENST00000577397.1_5'UTR	p.E24D	NM_016113.4	NP_057197.2	WXS	Illumina GAIIx	Phase_I	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	4	109	---	---	---	---	T	16321054	G	T	16321054	3	4	54	1	0	0	0	0	1	0	0	0	16593	991	35	1	74	1	TRPV2	17	16321054	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		16321054	64874156	14	2675										
CRLF3	51379	broad.mit.edu	37	chr17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	attactggtggttcctagagTcacggcttcaatgtcaaacg	10	9	3	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.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000577725.1_5'Flank|CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	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		Somatic				CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	p.T388P	NM_015986.3	NP_057070.3	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	G	29111372	T	G	29111372	3	3	54	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	15	2676										
COIL	8161	broad.mit.edu	37	chr17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	ccgcttctttgcttttctaaGagataaattaatgtcaccat	5	9	3	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.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		Somatic					p.L106F	NM_004645.2	NP_004636.1	WXS	Illumina GAIIx	Phase_I	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	4	230	---	---	---	---	A	55028287	G	A	55028287	3	1	54	1	0	0	0	0	1	0	0	0	3665	942	33	2	1438	2	COIL	17	55028287	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	25916915	55028287	26166923	16	2677										
PARVB	29780	broad.mit.edu	37	chr22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.83578431372549	0	1.33725490196078	1	1	0	tgcttctcattgcagaaaaaCtggcagggtgcaagctgaat	11	8	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.chr22:44527372C>G	ENST00000338758.7	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	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																																						ENST00000338758.7																			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		Somatic				PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	p.L128V	NM_013327.4	NP_037459.2	WXS	Illumina GAIIx	Phase_I	Q9HBI1	PARVB_HUMAN			5	445	+		Ovarian(80;0.0246)|all_neural(38;0.0423)				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	7	78	---	---	---	---	G	44527372	C	G	44527372	3	3	54	1	0	0	0	0	1	0	0	0	11469	564	20	4	619	4	PARVB	22	44527372	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		44527372	6777194	17	2678										
S100PBP	64766	broad.mit.edu	37	chr1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttatttctccagaaatgaTgtgctcacgggtgccctctg	9	11	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.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	48	106	---	---	---	---	C	33291705	T	C	33291705	3	2	55	1	0	0	0	0	1	0	0	0	13791	1464	51	2	7	2	S100PBP	1	33291705	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		33291705	215958916	1	2679										
C1orf177	163747	broad.mit.edu	37	chr1	55280637	55280637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagagaagaaatgcaaaccCgtcaaccagcccccattcct	6	15	1	2	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			Somatic				C1orf177_ENST00000371273.3_Silent_p.P325P	p.P325P	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	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	41	140	---	---	---	---	T	55280637	C	T	55280637	2	4	55	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	2680										
LRIG2	9860	broad.mit.edu	37	chr1	113636959	113636959	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctattatcttgtttattttAggaatttaagtaataacaga	6	3	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.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																																						ENST00000361127.5																			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			Somatic						NM_014813.1	NP_055628.1	WXS	Illumina GAIIx	Phase_I	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	4	80	---	---	---	---	T	113636959	A	T	113636959	5	4	55	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	2681										
WDR43	23160	broad.mit.edu	37	chr2	29148007	29148007	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcagttggtttcagcctacTattgagcgagtggtacgtag	14	7	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.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T	SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_ENST00000579969.1_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			Somatic					p.T358T	NM_015131.1	NP_055946.1	WXS	Illumina GAIIx	Phase_I	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	12	39	---	---	---	---	G	29148007	T	G	29148007	2	3	55	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		29148007	214051366	4	2682										
PTH2R	5746	broad.mit.edu	37	chr2	209292995	209292995	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaagcgaaagtacaatgtGaactcaacatcacagctcaa	7	9	3	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.chr2:209292995G>T	ENST00000272847.2	+	2	358	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	49					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.E49*(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)	AGTACAATGTGAACTCAACAT	0.413																																						ENST00000272847.2																			1	Substitution - Nonsense(1)	p.E49*(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.(145-147)Gaa>Taa		parathyroid hormone 2 receptor							111	92	99					2																	209292995		2203	4300	6503	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209292995G>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.145G>T	2.37:g.209292995G>T	ENSP00000272847:p.Glu49*		Somatic				PTH2R_ENST00000413482.1_3'UTR	p.E49*	NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	2	358	+			49					Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.145G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550086	0.97654	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.7583	0.85506	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000272847:E49X	E	+	1	0	PTH2R	209001240	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.029000	0.57253	2.646000	0.89796	0.591000	0.81541	GAA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		3	43	3	43	---	---	---	---	T	209292995	G	T	209292995	4	4	55	1	0	0	0	0	0	1	0	0	12760	1291	45	3	151	3	PTH2R	2	209292995	Nonsense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	180144988	209292995	33906378	5	2683										
IKZF2	22807	broad.mit.edu	37	chr2	213886796	213886796	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcgttccttgtgctcctcCagtgaactgcgctgcttgta	10	13	0	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.chr2:213886796C>G	ENST00000434687.1	-	7	942	c.633G>C	c.(631-633)ctG>ctC	p.L211L	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000457361.1_Silent_p.L211L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L			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			Somatic				IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000434687.1_Silent_p.L211L	p.L211L	NM_016260.2	NP_057344.2	WXS	Illumina GAIIx	Phase_I	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	6	122	---	---	---	---	G	213886796	C	G	213886796	2	3	55	1	0	0	0	0	0	0	0	1	7615	581	21	4		4	IKZF2	2	213886796	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	4593801	213886796	29312577	6	2684										
FN1	2335	broad.mit.edu	37	chr2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaaagatcatttgttgccCaacactgggttgctgaccag	9	11	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.chr2:216236934C>A	ENST00000359671.1	-	39	6404	c.6139G>T	c.(6139-6141)Ggg>Tgg	p.G2047W	FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|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_ENST00000357009.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W			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		Somatic				FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W	p.G2138W			WXS	Illumina GAIIx	Phase_I	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	4	145	---	---	---	---	A	216236934	C	A	216236934	3	1	55	1	0	0	0	0	1	0	0	0	5962	594	21	1	1049	1	FN1	2	216236934	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	2350138	216236934	26962439	7	2685										
IGF2BP2	10644	broad.mit.edu	37	chr3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttcctgtccccaaagagcTgccggaggtcgtcggcggtg	15	13	0	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		Somatic				IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	p.Q21R	NM_006548.4	NP_006539.3	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	C	185542687	T	C	185542687	3	2	55	1	0	0	0	0	1	0	0	0	7574	1580	55	2	1801	2	IGF2BP2	3	185542687	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		185542687	12479743	8	2686										
SLC2A9	56606	broad.mit.edu	37	chr4	9828095	9828095	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtgggtatgctttgttccTtttggaaaatgcctggctga	13	6	0	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.chr4:9828095T>G	ENST00000264784.3	-	12	1602	c.1549A>C	c.(1549-1551)Agg>Cgg	p.R517R	SLC2A9_ENST00000506583.1_Silent_p.R488R|SLC2A9_ENST00000309065.3_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			Somatic				SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R	p.R488R			WXS	Illumina GAIIx	Phase_I	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	6	316	---	---	---	---	G	9828095	T	G	9828095	2	3	55	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	9	2687										
ANKRD17	26057	broad.mit.edu	37	chr4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactgtcctgaggtctgcaCcatcagcagtacctgataag	9	12	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.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V	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		Somatic				ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	p.G161V	NM_032217.3	NP_115593.3	WXS	Illumina GAIIx	Phase_I	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	8	231	---	---	---	---	A	74043162	C	A	74043162	3	1	55	1	0	0	0	0	1	0	0	0	646	507	18	3	7461	3	ANKRD17	4	74043162	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	64215067	74043162	117111114	10	2688										
RIOK1	83732	broad.mit.edu	37	chr6	7405482	7405482	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacgtttttccttctgacagAtttctttatgaggcacagtg	8	8	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.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.(1096-1098)gAt>gGt		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			Somatic					p.D366G	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina GAIIx	Phase_I	Q9BRS2	RIOK1_HUMAN			12	1604	+	Ovarian(93;0.0418)		366			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Splice_Site	SNP	ENST00000379834.2	37	c.1097A>G	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	32	79	---	---	---	---	G	7405482	A	G	7405482	5	3	55	1	0	0	0	0	0	0	1	0	13377	347	12	2	1143	2	RIOK1	6	7405482	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		7405482	163709585	11	2689										
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatgtggggaaagattggGaggcagcatctgtgcacatg	16	6	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_ENST00000368761.5_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000359831.4_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		Somatic				TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T|TRAF3IP2_ENST00000392556.4_5'UTR	p.P253T	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	WXS	Illumina GAIIx	Phase_I	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	31	48	---	---	---	---	T	111912533	G	T	111912533	3	4	55	1	0	0	0	0	1	0	0	0	16438	1174	41	3	972	3	TRAF3IP2	6	111912533	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	104507051	111912533	59202534	12	2690										
NPC1L1	29881	broad.mit.edu	37	chr7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggggcagaacttgtccttAttggggccagatatataaag	13	6	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.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		Somatic				NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K	p.N975K	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	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	3	110	---	---	---	---	C	44561339	A	C	44561339	3	2	55	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	13	2691										
SLC25A13	10165	broad.mit.edu	37	chr7	95750981	95750981	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttacactcctccaaaatcAatgtagaaccatcgctgtag	5	12	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.chr7:95750981A>G	ENST00000265631.5	-	17	1963	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I|SLC25A13_ENST00000416240.2_Silent_p.I610I			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			Somatic				SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I	p.I610I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina GAIIx	Phase_I	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	79	244	---	---	---	---	G	95750981	A	G	95750981	2	3	55	1	0	0	0	0	0	0	0	1	14475	126	5	2		2	SLC25A13	7	95750981	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	51189642	95750981	63387682	14	2692										
MUC17	140453	broad.mit.edu	37	chr7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtcagttctgaggctagcAccctttccacaactcctgtt	8	13	2	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.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		Somatic					p.T3359A	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	123	436	---	---	---	---	G	100684772	A	G	100684772	3	3	55	1	0	0	0	0	1	0	0	0	9974	159	6	2	10085	2	MUC17	7	100684772	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	4933791	100684772	58453891	15	2693										
TNFRSF10A	8797	broad.mit.edu	37	chr8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgtcctcagccccaggccCtcgtaggagacccaagcgcc	10	17	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.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		Somatic					p.G288W	NM_003844.3	NP_003835.3	WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	A	23056931	C	A	23056931	3	1	55	1	0	0	0	0	1	0	0	0	16277	681	24	1	556	1	TNFRSF10A	8	23056931	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		23056931	123307091	16	2694										
CACNB2	783	broad.mit.edu	37	chr10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	aaaaacggaatgaggctgggGagtggaacagggatgtttac	16	4	0	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.chr10:18828621G>A	ENST00000324631.7	+	14	2011	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.E596K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K	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		Somatic				CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K	p.E596K	NM_000724.3	NP_000715.2	WXS	Illumina GAIIx	Phase_I	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	9	120	---	---	---	---	A	18828621	G	A	18828621	3	1	55	1	0	0	0	0	1	0	0	0	2553	1175	41	2	2315	2	CACNB2	10	18828621	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		18828621	116706126	17	2695										
OR5I1	10798	broad.mit.edu	37	chr11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accagcattttgggaacaatGtctgagaaatagcaaaggtc	10	7	1	1	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		Somatic					p.D78E	NM_006637.1	NP_006628.1	WXS	Illumina GAIIx	Phase_I	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	4	104	---	---	---	---	T	55703643	G	T	55703643	3	4	55	1	0	0	0	0	1	0	0	0	11164	1368	48	3	713	3	OR5I1	11	55703643	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		55703643	79302873	18	2696										
ROBO4	54538	broad.mit.edu	37	chr11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	accattggctaaggagccctCgctgggggtgggggtgaggc	19	9	0	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.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		Somatic				RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	p.E870K	NM_019055.5	NP_061928.4	WXS	Illumina GAIIx	Phase_I	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	14	33	---	---	---	---	T	124756546	C	T	124756546	3	4	55	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	69052903	124756546	10249970	19	2697										
ATP2B1	490	broad.mit.edu	37	chr12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttttttggcaaatttgcttTctttttatctttttcatcac	3	8	4	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.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000348959.3_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		Somatic				ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E	p.K351E			WXS	Illumina GAIIx	Phase_I	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	21	190	---	---	---	---	C	90020309	T	C	90020309	3	2	55	1	0	0	0	0	1	0	0	0	1139	1792	62	2	2825	2	ATP2B1	12	90020309	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		90020309	43831586	20	2698										
PDS5B	23047	broad.mit.edu	37	chr13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatcaggtttaatgatatccAtgtaccaatccgcctggaat	7	9	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.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		Somatic					p.H326R	NM_015032.3	NP_055847.1	WXS	Illumina GAIIx	Phase_I	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	17	84	---	---	---	---	G	33252986	A	G	33252986	3	3	55	1	0	0	0	0	1	0	0	0	11692	217	8	2	1011	2	PDS5B	13	33252986	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		33252986	81916892	21	2699										
CHD8	57680	broad.mit.edu	37	chr14	21871248	21871248	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagctgtaagattaataccAagtccaccagcccgggtaca	9	12	0	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.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			Somatic				CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000555962.1_Intron	p.L1214L	NM_001170629.1	NP_001164100.1	WXS	Illumina GAIIx	Phase_I	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	3	89	---	---	---	---	G	21871248	A	G	21871248	2	3	55	1	0	0	0	0	0	0	0	1	3331	117	5	2		2	CHD8	14	21871248	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		21871248	85478292	22	2700										
USP31	57478	broad.mit.edu	37	chr16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)ccafs		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		Somatic				USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	p.P836fs	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	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	55	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	23	2701										
OSGIN1	29948	broad.mit.edu	37	chr16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctcttccaggtgagcggcTtcctgaccaggaaccaggcc	11	16	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_ENST00000393306.1_Missense_Mutation_p.F225L|OSGIN1_ENST00000361711.3_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		Somatic				OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L	p.F308L			WXS	Illumina GAIIx	Phase_I	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	21	69	---	---	---	---	C	83998851	T	C	83998851	3	2	55	1	0	0	0	0	1	0	0	0	11289	1609	56	2	948	2	OSGIN1	16	83998851	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	60917933	83998851	6355902	24	2702										
FXR2	9513	broad.mit.edu	37	chr17	7495581	7495581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcctgcctaccttctgtccTgaaagagagtcttctgaggg	11	11	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.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000570788.1_5'Flank	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			Somatic				MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	p.S639S	NM_004860.3	NP_004851.2	WXS	Illumina GAIIx	Phase_I	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	3	144	---	---	---	---	C	7495581	T	C	7495581	2	2	55	1	0	0	0	0	0	0	0	1	6116	1567	55	2		2	FXR2	17	7495581	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		7495581	73699629	25	2703										
STAT5B	6777	broad.mit.edu	37	chr17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcaaacttccaagcaatgGtgatgccgccaatttctgag	8	10	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.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		Somatic					p.T628I	NM_012448.3	NP_036580.2	WXS	Illumina GAIIx	Phase_I	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	3	86	---	---	---	---	A	40362212	G	A	40362212	3	1	55	1	0	0	0	0	1	0	0	0	15268	1261	44	2	500	2	STAT5B	17	40362212	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	32866631	40362212	40832998	26	2704										
GIPC3	126326	broad.mit.edu	37	chr19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgaccagcgggagggagaCcctgcggcttcgttctgggg	18	10	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.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		Somatic					p.T221N	NM_133261.2	NP_573568.1	WXS	Illumina GAIIx	Phase_I	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	10	81	---	---	---	---	A	3589510	C	A	3589510	3	1	55	1	0	0	0	0	1	0	0	0	6394	507	18	3	676	3	GIPC3	19	3589510	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		3589510	55539473	27	2705										
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	7	2	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.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		Somatic				ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S	p.F374S			WXS	Illumina GAIIx	Phase_I	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	3	168	---	---	---	---	C	35232275	T	C	35232275	3	2	55	1	0	0	0	0	1	0	0	0	17746	1841	64	2	1003	2	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	31642765	35232275	23896708	28	2706										
ZNFX1	57169	broad.mit.edu	37	chr20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgatttcaatctcttctAgccgctgttttatgctagtt	7	8	3	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.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		Somatic				ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P	p.L1640P	NM_021035.2	NP_066363.1	WXS	Illumina GAIIx	Phase_I	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	42	82	---	---	---	---	G	47864642	A	G	47864642	3	3	55	1	0	0	0	0	1	0	0	0	18202	420	15	2	841	2	ZNFX1	20	47864642	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		47864642	15160878	29	2707										
SHOX	6473	broad.mit.edu	37	chrX	601572	601572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaggtttggttccagaaccGgagagccaagtgccgcaaac	12	11	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	45	137	---	---	---	---	A	601572	G	A	601572	3	1	55	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	30	2708										
MID2	11043	broad.mit.edu	37	chrX	107159358	107159358	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggggttagattatttaacAggtgtgaaaatactgtgctt	12	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.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	MID2_ENST00000443968.2_Splice_Site_p.T400T|RP6-191P20.4_ENST00000430140.1_RNA	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.(1198-1200)acA>acG		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			Somatic				RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T	p.T400T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			6	1748	+			400			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Splice_Site	SNP	ENST00000262843.6	37	c.1200A>G	CCDS14532.2																																																																																				0.274	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	Silent	3	196	3	196	---	---	---	---	G	107159358	A	G	107159358	5	3	55	1	0	0	0	0	0	0	1	0	9578	202	7	2	1222	2	MID2	23	107159358	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	106557786	107159358	48111202	31	2709										
SPANXN1	494118	broad.mit.edu	37	chrX	144337274	144337274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatattcaacagtattagcGttttgctacaggaaagctaa	8	6	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.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			Somatic					p.A53A	NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	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	3	123	---	---	---	---	T	144337274	G	T	144337274	2	4	55	1	0	0	0	0	0	0	0	1	14990	1132	40	3		3	SPANXN1	23	144337274	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	37177916	144337274	10933286	32	2710										
DPH2	1802	broad.mit.edu	37	chr1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	ccctgacccagaccttgaccCagacctgagtcggctgctct	9	17	1	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.chr1:44437269C>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		Somatic				DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	p.P232R	NM_001384.4	NP_001375.2	WXS	Illumina GAIIx	Phase_I	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	4	141	---	---	---	---	G	44437269	C	G	44437269	3	3	56	1	0	0	0	0	1	0	0	0	4720	594	21	4	709	4	DPH2	1	44437269	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		44437269	204813352	1	2711										
SYT11	23208	broad.mit.edu	37	chr1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	acggcatcgggtgaagaccaGagtgctgcggaagaccctgg	16	10	0	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.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		Somatic				SYT11_ENST00000539162.1_Intron	p.R213T	NM_152280.4	NP_689493.3	WXS	Illumina GAIIx	Phase_I	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	3	76	---	---	---	---	C	155838359	G	C	155838359	3	2	56	1	0	0	0	0	1	0	0	0	15464	942	33	4	644	4	SYT11	1	155838359	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	111401090	155838359	93412262	2	2712										
EIF5B	9669	broad.mit.edu	37	chr2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	atgtgctgctgtagaagttaTggaacaaggagtaccagaaa	12	5	0	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.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)	ENST00000289371.6																			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		Somatic					p.M476T	NM_015904.3	NP_056988.3	WXS	Illumina GAIIx	Phase_I	O60841	IF2P_HUMAN			8	1629	+								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	7	62	---	---	---	---	C	99985894	T	C	99985894	3	2	56	1	0	0	0	0	1	0	0	0	5044	1464	51	2	1457	2	EIF5B	2	99985894	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		99985894	143213479	3	2713										
SLC6A18	348932	broad.mit.edu	37	chr5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	ggacgcagccacccagatatTcttctctctgtccctggcct	8	16	3	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.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		Somatic				SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	p.F262S	NM_182632.2	NP_872438.2	WXS	Illumina GAIIx	Phase_I	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	3	150	---	---	---	---	C	1239617	T	C	1239617	3	2	56	1	0	0	0	0	1	0	0	0	14681	1783	62	2	807	2	SLC6A18	5	1239617	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		1239617	179675643	4	2714										
HGF	3082	broad.mit.edu	37	chr7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gcccctgtagccttctccttGaccttggatgcattcagttg	9	13	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.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		Somatic				HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	p.Q309K	NM_000601.4	NP_000592.3	WXS	Illumina GAIIx	Phase_I	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	10	130	---	---	---	---	T	81359036	G	T	81359036	3	4	56	1	0	0	0	0	1	0	0	0	7085	1299	45	3	1305	3	HGF	7	81359036	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		81359036	77779627	5	2715										
FBXO10	26267	broad.mit.edu	37	chr9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	ggttttgccctggaagatgaTgttttcctgcaccagggcct	12	10	0	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.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	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		Somatic				FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.I866V	NM_012166.2	NP_036298.2	WXS	Illumina GAIIx	Phase_I	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	4	141	---	---	---	---	C	37516001	T	C	37516001	3	2	56	1	0	0	0	0	1	0	0	0	5726	1464	51	2	282	2	FBXO10	9	37516001	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		37516001	103697430	6	2716										
RNF20	56254	broad.mit.edu	37	chr9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gtcctgagatataagcggaaAttgagagaagcccagtctga	12	7	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.chr9:104314514A>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		Somatic					p.K500N	NM_019592.5	NP_062538.5	WXS	Illumina GAIIx	Phase_I	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	7	105	---	---	---	---	T	104314514	A	T	104314514	3	4	56	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	7	2717										
RC3H2	54542	broad.mit.edu	37	chr9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	caactgatcattttgagaacTgataccaagctgtatgtcca	7	9	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.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		Somatic				RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G	p.S1087G			WXS	Illumina GAIIx	Phase_I	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	7	129	---	---	---	---	C	125613481	T	C	125613481	3	2	56	1	0	0	0	0	1	0	0	0	13167	1580	55	2	324	2	RC3H2	9	125613481	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08	21298967	125613481	15599950	8	2718										
CD248	57124	broad.mit.edu	37	chr11	66082756	66082756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gcagttgggataatgggaagCtgggtggcctgggttctgag	19	5	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.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			Somatic				RP11-867G23.13_ENST00000534065.1_RNA	p.Q581Q	NM_020404.2	NP_065137.1	WXS	Illumina GAIIx	Phase_I	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	10	177	---	---	---	---	T	66082756	C	T	66082756	2	4	56	1	0	0	0	0	0	0	0	1	2989	796	28	2		2	CD248	11	66082756	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		66082756	68923760	9	2719										
ACAT1	38	broad.mit.edu	37	chr11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	tattacaggaaataagatatGtggaacggagttatgtatca	10	3	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.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L|ACAT1_ENST00000526119.1_3'UTR	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		Somatic				ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	p.V29L	NM_000019.3	NP_000010.1	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	T	108002646	G	T	108002646	3	4	56	1	0	0	0	0	1	0	0	0	121	1377	48	3	91	3	ACAT1	11	108002646	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	41919890	108002646	27003870	10	2720										
RTL1	388015	broad.mit.edu	37	chr14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gttctggcagctccatgacgTcaaagttgaagtgggagaag	14	7	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.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_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		Somatic					p.D980G	NM_001134888.2	NP_001128360.1	WXS	Illumina GAIIx	Phase_I	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	3	101	---	---	---	---	C	101348187	T	C	101348187	3	2	56	1	0	0	0	0	1	0	0	0	13724	1667	58	2	1141	2	RTL1	14	101348187	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		101348187	6001353	11	2721										
CLK3	1198	broad.mit.edu	37	chr15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	ggcaaggtggtggagtgcttGgaccatgccaggtgagcgag	19	7	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.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S	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		Somatic				CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S	p.L322F	NM_001130028.1	NP_001123500.1	WXS	Illumina GAIIx	Phase_I	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	5	114	---	---	---	---	C	74914890	G	C	74914890	3	2	56	1	0	0	0	0	1	0	0	0	3538	1339	47	4	984	4	CLK3	15	74914890	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		74914890	27616502	12	2722										
TOX3	27324	broad.mit.edu	37	chr16	52484402	52484402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	tcggtcatgtggacgatggaCcgcatgatcagggagggatc	16	8	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.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			Somatic				TOX3_ENST00000407228.3_Silent_p.R150R	p.R155R	NM_001080430.2	NP_001073899.2	WXS	Illumina GAIIx	Phase_I	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	5	102	---	---	---	---	T	52484402	C	T	52484402	2	4	56	1	0	0	0	0	0	0	0	1	16376	494	18	2		2	TOX3	16	52484402	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		52484402	37870351	13	2723										
EPN2	22905	broad.mit.edu	37	chr17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	agtccttcctgggccccaacGcggccctggtgaacctggac	12	16	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.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|RP11-135L13.4_ENST00000581122.1_RNA|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		Somatic				EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T	p.A517T	NM_014964.4	NP_055779.2	WXS	Illumina GAIIx	Phase_I	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	4	134	---	---	---	---	A	19235303	G	A	19235303	3	1	56	1	0	0	0	0	1	0	0	0	5186	1087	38	2	1579	2	EPN2	17	19235303	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		19235303	61959907	14	2724										
SLFN11	91607	broad.mit.edu	37	chr17	33690215	33690215	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	tgagactcaggaaaaggcagGatttcaccatattcaagata	9	7	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	171	---	---	---	---	T	33690215	G	T	33690215	2	4	56	1	0	0	0	0	0	0	0	1	14733	1164	41	3		3	SLFN11	17	33690215	Silent	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	14454912	33690215	47504995	15	2725										
ALPK2	115701	broad.mit.edu	37	chr18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gccttctttggagactgagtCtgttgaagtttgaagggttt	13	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	5	160	---	---	---	---	A	56246150	C	A	56246150	3	1	56	1	0	0	0	0	1	0	0	0	545	913	32	3	4694	3	ALPK2	18	56246150	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		56246150	21831098	16	2726										
ZNF813	126017	broad.mit.edu	37	chr19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	gctttcaggaaattgataaaGatattcataacttagagttt	7	4	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.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		Somatic				ZNF813_ENST00000396421.4_Intron	p.D93H	NM_001004301.3	NP_001004301.2	WXS	Illumina GAIIx	Phase_I	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	11	145	---	---	---	---	C	53993763	G	C	53993763	3	2	56	1	0	0	0	0	1	0	0	0	18172	942	33	4	287	4	ZNF813	19	53993763	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		53993763	5135220	17	2727										
KCNG1	3755	broad.mit.edu	37	chr20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	caccgtcgtcatggtgatgaCagcccaccagtagcaggcag	12	13	1	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.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		Somatic				RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	p.V419F	NM_002237.3	NP_002228.2	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	A	49620863	C	A	49620863	3	1	56	1	0	0	0	0	1	0	0	0	8027	478	17	3	290	3	KCNG1	20	49620863	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		49620863	13404657	18	2728										
DKC1	1736	broad.mit.edu	37	chrX	153994551	153994551	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.105263157894737	2	1	1.56640625	2.50625	0	0.428571428571429	1	0	tcccatgaggtggtagcctgGattcgacggatacttcgggt	14	9	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.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		Somatic					p.W108C	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	WXS	Illumina GAIIx	Phase_I	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	5	59	---	---	---	---	C	153994551	G	C	153994551	3	2	56	1	0	0	0	0	1	0	0	0	4542	1183	41	4	342	4	DKC1	23	153994551	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		153994551	1276009	19	2729										
HFM1	164045	broad.mit.edu	37	chr1	91843738	91843738	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ttttcatcttttacaatatgTacctaagcaggaaatcaaga	5	7	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.chr1:91843738T>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			Somatic				HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	p.V413V	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	5	89	---	---	---	---	A	91843738	T	A	91843738	2	1	57	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		91843738	157406883	1	2730										
THUMPD2	80745	broad.mit.edu	37	chr2	39982551	39982551	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cacctacataatacacatccTatggggaaataaatatttta	4	8	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.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			Somatic				THUMPD2_ENST00000260619.6_Splice_Site		NM_025264.4	NP_079540.2	WXS	Illumina GAIIx	Phase_I	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	4	77	---	---	---	---	A	39982551	T	A	39982551	5	1	57	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	2	2731										
KDM3A	55818	broad.mit.edu	37	chr2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	aatgtgtgaagagtcagataCatgaaccagagaacttaatg	10	5	1	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.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y			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		Somatic				KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y	p.H715Y			WXS	Illumina GAIIx	Phase_I	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	27	159	---	---	---	---	T	86705343	C	T	86705343	3	4	57	1	0	0	0	0	1	0	0	0	8126	478	17	2	2193	2	KDM3A	2	86705343	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	46722792	86705343	156494030	3	2732										
IL1RL2	8808	broad.mit.edu	37	chr2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tgtggctgtgtctgttgtgtAcatatacaacatttttaaga	9	5	1	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.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	82	---	---	---	---	T	102842427	A	T	102842427	3	4	57	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	4	2733										
LY75	4065	broad.mit.edu	37	chr2	160688257	160688257	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tgctcaagaacaaagttattCtccttttcatctcgaatact	4	10	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.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E|LY75_ENST00000553424.1_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			Somatic				LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	p.E1294E	NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				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	6	165	---	---	---	---	T	160688257	C	T	160688257	2	4	57	1	0	0	0	0	0	0	0	1	9099	912	32	2		2	LY75	2	160688257	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	57845830	160688257	82511116	5	2734										
TMEM198	130612	broad.mit.edu	37	chr2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	catcaaacgcttcaatggagAcgtcctctccccggtgagct	9	14	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.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		Somatic				TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G	p.D311G			WXS	Illumina GAIIx	Phase_I	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	3	61	---	---	---	---	G	220414063	A	G	220414063	3	3	57	1	0	0	0	0	1	0	0	0	16116	275	10	2	942	2	TMEM198	2	220414063	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	59725806	220414063	22785310	6	2735										
CNTN6	27255	broad.mit.edu	37	chr3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ctgggacagggccctcaagcCccccagtcaatgttaccacc	9	17	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.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		Somatic				CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S	p.P892S			WXS	Illumina GAIIx	Phase_I	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	7	240	---	---	---	---	T	1427451	C	T	1427451	3	4	57	1	0	0	0	0	1	0	0	0	3645	623	22	2	2748	2	CNTN6	3	1427451	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		1427451	196594979	7	2736										
DAG1	1605	broad.mit.edu	37	chr3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gatctgctaccgcaagaagcGgaagggcaagcttacccttg	12	11	1	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.chr3:49570280G>A	ENST00000539901.1	+	3	2894	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000545947.1_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		Somatic				DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q	p.R779Q	NM_001177634.2	NP_001171105	WXS	Illumina GAIIx	Phase_I	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	3	62	---	---	---	---	A	49570280	G	A	49570280	3	1	57	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	8	2737										
SPATA12	353324	broad.mit.edu	37	chr3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cacacatacacacacatctgTaatcaataataatcctgcaa	2	12	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.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		Somatic				ARHGEF3_ENST00000338458.4_Intron	p.*191K	NM_181727.1	NP_859078.1	WXS	Illumina GAIIx	Phase_I	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	7	233	---	---	---	---	A	57108293	T	A	57108293	4	1	57	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	7538013	57108293	140914137	9	2738										
WDR52	55779	broad.mit.edu	37	chr3	113152410	113152410	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tatacatattatctttacttAcatcttgattctgatttaga	3	6	3	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.chr3:113152410A>T	ENST00000295868.2	-	2	263		c.e2+1		WDR52_ENST00000393845.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA	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			Somatic				WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA		NM_001164496.1	NP_001157968.1	WXS	Illumina GAIIx	Phase_I	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	8	206	---	---	---	---	T	113152410	A	T	113152410	5	4	57	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	10	2739										
ZBTB38	253461	broad.mit.edu	37	chr3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tttatgcgatgtcactatcaTtgtggaagataccaaattta	7	6	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.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T					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		Somatic				ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T	p.I38T			WXS	Illumina GAIIx	Phase_I	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	10	387	---	---	---	---	C	141161343	T	C	141161343	3	2	57	1	0	0	0	0	1	0	0	0	17536	1493	52	2	115	2	ZBTB38	3	141161343	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	28008933	141161343	56861087	11	2740										
EPHA5	2044	broad.mit.edu	37	chr4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tacctgcttgatttgtggttAcatttacagacacatactgc	7	9	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.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron	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)	Somatic				EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E	p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	WXS	Illumina GAIIx	Phase_I	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	6	91	---	---	---	---	T	66356112	A	T	66356112	3	4	57	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		66356112	124798164	12	2741										
CSN1S1	1446	broad.mit.edu	37	chr4	70798273	70798273	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cttacataggctctgataacCatgaggcttctcattctcac	6	12	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.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000507772.1_5'Flank|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame	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			1446					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			Somatic				CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank		NM_001890.1	NP_001881.1	WXS	Illumina GAIIx	Phase_I	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	4	21	---	---	---	---	A	70798273	C	A	70798273	1	1	57	1	0	1	0	0	0	0	0	0	3947	609	21	1		1	CSN1S1	4	70798273	De_novo_Start_InFrame	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4442161	70798273	120356003	13	2742										
KIAA0776	23376	broad.mit.edu	37	chr6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ttcctgggaactttctgacaCaggtattttttttcctaata	6	8	1	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.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		Somatic					p.Q155E	NM_015323.4	NP_056138.1	WXS	Illumina GAIIx	Phase_I	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	4	150	---	---	---	---	G	96974309	C	G	96974309	3	3	57	1	0	0	0	0	1	0	0	0	8193	479	17	4	481	4	KIAA0776	6	96974309	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		96974309	74140758	14	2743										
SYNE1	23345	broad.mit.edu	37	chr6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tgatttccttatcattcaagGgtaacctatatccaagctca	5	10	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.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_ENST00000356820.4_Missense_Mutation_p.P1945L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L	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)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	p.P7421L	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	13	269	---	---	---	---	A	152536125	G	A	152536125	3	1	57	1	0	0	0	0	1	0	0	0	15442	1232	43	2	4304	2	SYNE1	6	152536125	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	55561816	152536125	18578942	15	2744										
ATP6V0A4	50617	broad.mit.edu	37	chr7	138437474	138437474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gtcgatgttgcacatgttcaGgatgtggtagacagctttca	12	7	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	137	---	---	---	---	A	138437474	G	A	138437474	2	1	57	1	0	0	0	0	0	0	0	1	1170	991	35	2		2	ATP6V0A4	7	138437474	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		138437474	20701189	16	2745										
BTBD10	84280	broad.mit.edu	37	chr11	13424827	13424827	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	aattttgtgctataaataacTagaaacaaaaagaaaaatat	4	3	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.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000528120.1_Splice_Site|BTBD10_ENST00000530907.1_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			Somatic				BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site		NM_032320.5	NP_115696.2	WXS	Illumina GAIIx	Phase_I	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	8	192	---	---	---	---	A	13424827	T	A	13424827	5	1	57	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	17	2746										
MRGPRX4	117196	broad.mit.edu	37	chr11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tcttcctcctctgcggcctgCccttcggcattctgggggcc	11	17	3	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.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		Somatic				RP11-113D6.6_ENST00000527671.1_Intron	p.P231S	NM_054032.3	NP_473373.2	WXS	Illumina GAIIx	Phase_I	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	21	99	---	---	---	---	T	18195494	C	T	18195494	3	4	57	1	0	0	0	0	1	0	0	0	9769	739	26	2	693	2	MRGPRX4	11	18195494	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4770667	18195494	116811022	18	2747										
UEVLD	55293	broad.mit.edu	37	chr11	18579845	18579845	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gctcctttagtcccttctgaGaggtctaagaggacaagcct	10	11	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.chr11:18579845G>C	ENST00000541984.1	-	5	407	c.345C>G	c.(343-345)ctC>ctG	p.L115L	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L215L|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			Somatic				UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000320750.6_Silent_p.L193L|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	WXS	Illumina GAIIx	Phase_I	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	7	106	---	---	---	---	C	18579845	G	C	18579845	2	2	57	1	0	0	0	0	0	0	0	1	16930	929	33	4		4	UEVLD	11	18579845	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	384351	18579845	116426671	19	2748										
SFRS2IP	9169	broad.mit.edu	37	chr12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tgcatatcccttgcaagaagTacctaataatatttaaaaaa	4	7	0	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.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|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		Somatic				SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	p.T282S	NM_004719.2	NP_004710.2	WXS	Illumina GAIIx	Phase_I	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	6	123	---	---	---	---	A	46322640	T	A	46322640	3	1	57	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	20	2749										
DIP2B	57609	broad.mit.edu	37	chr12	51089055	51089055	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ttctttgtttttcagaatgtAatgaataagatgcacacaat	6	5	2	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.chr12:51089055A>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			Somatic					p.V575V	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	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	7	234	---	---	---	---	T	51089055	A	T	51089055	2	4	57	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	21	2750										
TIMELESS	8914	broad.mit.edu	37	chr12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gtgctcggtgctctttacagTgctcctcatcagagccttgc	10	13	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.chr12:56811998T>C	ENST00000553532.1	-	27	3524	c.3374A>G	c.(3373-3375)cAc>cGc	p.H1125R	TIMELESS_ENST00000229201.4_Missense_Mutation_p.H1124R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R					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		Somatic				TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R	p.H1124R	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	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	90	562	---	---	---	---	C	56811998	T	C	56811998	3	2	57	1	0	0	0	0	1	0	0	0	15901	1696	59	2	264	2	TIMELESS	12	56811998	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	5722943	56811998	77039897	22	2751										
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	tttttatggaactagcaaagTaagtaacttattaaaactta	5	4	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.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.6_Splice_Site|RNF17_ENST00000381921.1_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			Somatic				RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	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	8	170	---	---	---	---	A	25376711	T	A	25376711	5	1	57	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	23	2752										
KBTBD7	84078	broad.mit.edu	37	chr13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	agtgcatccagcgcacgcacTtgaagacttctgcagcactg	10	13	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		Somatic					p.K263R	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	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	4	114	---	---	---	---	C	41767606	T	C	41767606	3	2	57	1	0	0	0	0	1	0	0	0	7998	1609	56	2	1270	2	KBTBD7	13	41767606	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	16390895	41767606	73402272	24	2753										
THBS1	7057	broad.mit.edu	37	chr15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ggaagacagggcccagctgtAcatcgactgtgaaaagatgg	14	8	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.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		Somatic					p.Y168C	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	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	5	84	---	---	---	---	G	39874829	A	G	39874829	3	3	57	1	0	0	0	0	1	0	0	0	15850	391	14	2	509	2	THBS1	15	39874829	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		39874829	62656563	25	2754										
PPIP5K1	9677	broad.mit.edu	37	chr15	43827082	43827082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gggctgccaacttctacaagGgtttcctggaccaagctacc	10	13	1	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.chr15:43827082G>A	ENST00000396923.3	-	30	4213	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000420765.1_Silent_p.T1364T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T			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			Somatic				PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T	p.T1364T	NM_001130858.2	NP_001124330.1	WXS	Illumina GAIIx	Phase_I	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	8	217	---	---	---	---	A	43827082	G	A	43827082	2	1	57	1	0	0	0	0	0	0	0	1	12332	1219	43	2		2	PPIP5K1	15	43827082	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	3952253	43827082	58704310	26	2755										
MYH8	4626	broad.mit.edu	37	chr17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cattgggaatgatacaccgtAcgaagtgagggtgtgtgctc	14	7	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.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	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	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		Somatic				RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.V673A	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	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	22	126	---	---	---	---	G	10310244	A	G	10310244	3	3	57	1	0	0	0	0	1	0	0	0	10041	391	14	2	3887	2	MYH8	17	10310244	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		10310244	70884966	27	2756										
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	6	6	0	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																																						ENST00000399799.2																			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		Somatic					p.T518S	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)					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	7	202	---	---	---	---	A	18586746	T	A	18586746	3	1	57	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	28	2757										
ZNRF4	148066	broad.mit.edu	37	chr19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cccctcctgaggcccctggtCagtaaagatctagggcaggg	13	13	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.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*		Somatic					p.Q429*	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	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	9	37	---	---	---	---	T	5456787	C	T	5456787	4	4	57	1	0	0	0	0	0	1	0	0	18211	827	29	2	1287	2	ZNRF4	19	5456787	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		5456787	53672196	29	2758										
SLC6A16	28968	broad.mit.edu	37	chr19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gcctgtgttagacaaaacttGaccccctgctagagaccaca	8	13	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.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		Somatic				SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K	p.Q345K			WXS	Illumina GAIIx	Phase_I	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	8	279	---	---	---	---	T	49812329	G	T	49812329	3	4	57	1	0	0	0	0	1	0	0	0	14679	1299	45	3	1201	3	SLC6A16	19	49812329	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	44355542	49812329	9316654	30	2759										
SYNJ1	8867	broad.mit.edu	37	chr21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	aagaaactgagtcatctaagTacacaacctacagaaaaaaa	5	8	2	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_ENST00000382499.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F			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		Somatic				SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F	p.Y277F	NM_203446.2	NP_982271.2	WXS	Illumina GAIIx	Phase_I	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	4	73	---	---	---	---	A	34066614	T	A	34066614	3	1	57	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	31	2760										
CSTB	1476	broad.mit.edu	37	chr21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	gaagtcctcgtcgccgacgtGcacctgggaagagagcggag	16	11	0	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.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		Somatic					p.H58Y	NM_000100.3	NP_000091.1	WXS	Illumina GAIIx	Phase_I	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	21	118	---	---	---	---	A	45194208	G	A	45194208	3	1	57	1	0	0	0	0	1	0	0	0	3982	1319	46	2	128	2	CSTB	21	45194208	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	11127594	45194208	2935687	32	2761										
VSIG4	11326	broad.mit.edu	37	chrX	65252421	65252421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.40686274509804	2.81372549019608	1.12549019607843	1	1	0	cgcaggcttgaagagtaaggTacttagggttgctactttga	13	6	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.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		Somatic				VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron	p.T195A	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	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	6	66	---	---	---	---	C	65252421	T	C	65252421	3	2	57	1	0	0	0	0	1	0	0	0	17222	1638	57	2	644	2	VSIG4	23	65252421	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		65252421	90018139	33	2762										
INADL	10207	broad.mit.edu	37	chr1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	agctcagcttgaaaacatgtCtacaggctaccaccttggtt	8	11	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.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		Somatic					p.S1775C	NM_176877.2	NP_795352	WXS	Illumina GAIIx	Phase_I	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	8	301	---	---	---	---	G	62614008	C	G	62614008	3	3	58	1	0	0	0	0	1	0	0	0	7731	913	32	4	5486	4	INADL	1	62614008	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		62614008	186636613	1	2763										
AIM2	9447	broad.mit.edu	37	chr1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-													0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	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)aatfs		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		Somatic					p.N320fs	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	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	58	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	96419314	159033322	90217299	2	2764										
TPR	7175	broad.mit.edu	37	chr1	186307316	186307316	+	Frame_Shift_Del	DEL	T	T	-													0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	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																																	ENST00000367478.4				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)aatfs		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		Somatic					p.N1404fs	NM_003292.2	NP_003283.2	WXS	Illumina GAIIx	Phase_I	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)						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	58	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	3	2765										
TRAF3IP3	80342	broad.mit.edu	37	chr1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	cccttggggaatgaaaaaagTactactggagatggaagacc	12	7	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.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_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|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		Somatic				TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E	p.V268E			WXS	Illumina GAIIx	Phase_I	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	10	35	---	---	---	---	A	209948722	T	A	209948722	3	1	58	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	4	2766										
PUM2	23369	broad.mit.edu	37	chr2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	gctgcccttgctgaccctgaTtgggagtaagaggacgctga	14	10	0	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.chr2:20490511T>C	ENST00000361078.2	-	9	1215	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_ENST00000338086.5_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000403432.1_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		Somatic				PUM2_ENST00000403432.1_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S	p.N398S			WXS	Illumina GAIIx	Phase_I	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	10	123	---	---	---	---	C	20490511	T	C	20490511	3	2	58	1	0	0	0	0	1	0	0	0	12826	1493	52	2	2049	2	PUM2	2	20490511	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		20490511	222708862	5	2767										
EPC2	26122	broad.mit.edu	37	chr2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tgcctcttttgtctaggtatTgtccccagtatcagaaccgg	9	11	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.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		Somatic					p.L382W	NM_015630.3	NP_056445.3	WXS	Illumina GAIIx	Phase_I	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	5	33	---	---	---	---	G	149526724	T	G	149526724	3	3	58	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	6	2768										
COL5A2	1290	broad.mit.edu	37	chr2	189918665	189918665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	gccaactaaacctcgaggacCaggttcaccctagaaagcag	9	13	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.chr2:189918665C>A	ENST00000374866.3	-	37	2729	c.2455G>T	c.(2455-2457)Ggt>Tgt	p.G819C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	819					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.G819C(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)			CCTCGAGGACCAGGTTCACCC	0.423																																						ENST00000374866.3																			1	Substitution - Missense(1)	p.G819C(1)	prostate(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.(2455-2457)Ggt>Tgt		collagen, type V, alpha 2							41	42	42					2																	189918665		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918665C>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.2455G>T	2.37:g.189918665C>A	ENSP00000364000:p.Gly819Cys		Somatic					p.G819C	NM_000393.3	NP_000384.2	WXS	Illumina GAIIx	Phase_I	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		37	2729	-			819					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2455G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237254	0.79800	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99369	-5.78	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000059	D	0.99718	0.9891	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97432	1.0016	9	.	.	.	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	459;819	Q5PR22;P05997	.;CO5A2_HUMAN	C	819;459	ENSP00000364000:G819C	.	G	-	1	0	COL5A2	189626910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.765000	0.85310	2.814000	0.96858	0.591000	0.81541	GGT		0.423	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		3	50	3	50	---	---	---	---	A	189918665	C	A	189918665	3	1	58	1	0	0	0	0	1	0	0	0	3697	594	21	1	2116	1	COL5A2	2	189918665	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	40391941	189918665	53280708	7	2769										
CNTN6	27255	broad.mit.edu	37	chr3	1262421	1262422	+	Frame_Shift_Ins	INS	-	-	T													0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	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)attfs		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		Somatic				CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.I36fs	p.I36fs			WXS	Illumina GAIIx	Phase_I	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	58	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	8	2770										
ULK4	54986	broad.mit.edu	37	chr3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tgctagttctgggagtaggaCgagaactgaaaaatacaaac	11	6	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.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		Somatic				ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	p.R364L	NM_017886.2	NP_060356.2	WXS	Illumina GAIIx	Phase_I	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	29	83	---	---	---	---	A	41949428	C	A	41949428	3	1	58	1	0	0	0	0	1	0	0	0	16975	536	19	3	2840	3	ULK4	3	41949428	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	40687007	41949428	156073002	9	2771										
SLC22A4	6583	broad.mit.edu	37	chr5	131676278	131676278	+	Frame_Shift_Del	DEL	C	C	-													0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	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)cccfs		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		Somatic				AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.P489fs	NM_003059.2	NP_003050.2	WXS	Illumina GAIIx	Phase_I	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	58	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	10	2772										
FAM13B	51306	broad.mit.edu	37	chr5	137277736	137277736	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	ttgttccaataattcaggccTagaattgaaatggtaaaata	7	5	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.chr5:137277736T>C	ENST00000033079.3	-	22	2974		c.e22-2		FAM13B_ENST00000420893.2_Splice_Site|PKD2L2_ENST00000508883.1_Intron|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	51306				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			Somatic				PKD2L2_ENST00000508883.1_Intron|FAM13B_ENST00000420893.2_Splice_Site|FAM13B_ENST00000425075.2_Splice_Site		NM_016603.2	NP_057687.2	WXS	Illumina GAIIx	Phase_I	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	3	118	---	---	---	---	C	137277736	T	C	137277736	5	2	58	1	0	0	0	0	0	0	1	0	5453	1536	53	2	234	2	FAM13B	5	137277736	Splice_Site	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	5601458	137277736	43637524	11	2773										
PCDHB8	56128	broad.mit.edu	37	chr5	140558062	140558062	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	gtatcagagagcagtcctccTgggactgcgtttcctctgaa	11	11	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	56128				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			Somatic					p.P149P	NM_019120.3	NP_061993.2	WXS	Illumina GAIIx	Phase_I	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	91	395	---	---	---	---	A	140558062	T	A	140558062	2	1	58	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	12	2774										
PCDHGB7	56099	broad.mit.edu	37	chr5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	caactcagagatcacttattCcttctttggtgtggctgaca	8	10	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.chr5:140798265C>T	ENST00000398594.2	+	1	839	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	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	56099							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		Somatic				PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.S280F	NM_018927.3	NP_061750.1	WXS	Illumina GAIIx	Phase_I			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	30	43	---	---	---	---	T	140798265	C	T	140798265	3	4	58	1	0	0	0	0	1	0	0	0	11568	855	30	2	841	2	PCDHGB7	5	140798265	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	240203	140798265	40116995	13	2775										
TNXB	7148	broad.mit.edu	37	chr6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tcacggtcagctcccccaggCgaggcttgatggggggctca	15	13	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.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		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H	p.R3062H			WXS	Illumina GAIIx	Phase_I	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	42	85	---	---	---	---	T	32018029	C	T	32018029	3	4	58	1	0	0	0	0	1	0	0	0	16343	768	27	2	5606	2	TNXB	6	32018029	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		32018029	139097038	14	2776										
COL11A2	1302	broad.mit.edu	37	chr6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	gcccctcggaaccaggcgagCcagcaggaccctgcaggtgg	15	15	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.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_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1324V	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		Somatic				COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V	p.G1324V	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	A	33135619	C	A	33135619	3	1	58	1	0	0	0	0	1	0	0	0	3668	739	26	3	1287	3	COL11A2	6	33135619	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	1117590	33135619	137979448	15	2777										
DAAM2	23500	broad.mit.edu	37	chr6	39828787	39828787	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tggcagatctactgcagcaaGaagaaggtgccctctctgac	11	11	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.chr6:39828787G>A	ENST00000398904.2	+	3	434	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_ENST00000538976.1_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Silent_p.K84K			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			Somatic				DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000274867.4_Silent_p.K84K	p.K84K	NM_015345.3	NP_056160.2	WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	A	39828787	G	A	39828787	2	1	58	1	0	0	0	0	0	0	0	1	4216	933	33	2		2	DAAM2	6	39828787	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6693168	39828787	131286280	16	2778										
NKX3-1	4824	broad.mit.edu	37	chr8	23539003	23539003	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	aggggccgacaggtacttctGatggctgaacttcctctcca	11	12	2	2	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		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	p.Q146E	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	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	5	308	---	---	---	---	C	23539003	G	C	23539003	3	2	58	1	0	0	0	0	1	0	0	0	10455	1299	45	4	272	4	NKX3-1	8	23539003	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		23539003	122825019	17	2779										
CSPP1	79848	broad.mit.edu	37	chr8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	cgaattaaggaatagaagaaTtattaaaaaagcaaatgaag	8	2	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.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		Somatic				CSPP1_ENST00000412460.1_5'UTR	p.I240T	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	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	4	161	---	---	---	---	C	68007736	T	C	68007736	3	2	58	1	0	0	0	0	1	0	0	0	3962	1493	52	2	854	2	CSPP1	8	68007736	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	44468733	68007736	78356286	18	2780										
TTC18	118491	broad.mit.edu	37	chr10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	ggccaatatcccggaacaagCtcaataaacatttggtctga	8	10	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.chr10:75072385C>T	ENST00000310715.3	-	11	1259	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N	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																																						ENST00000310715.3																			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		Somatic				TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N	p.S380N	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	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	9	292	---	---	---	---	T	75072385	C	T	75072385	3	4	58	1	0	0	0	0	1	0	0	0	16682	797	28	2	2298	2	TTC18	10	75072385	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		75072385	60462362	19	2781										
ZBTB3	79842	broad.mit.edu	37	chr11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	cgtagtgtgtaagagcatgaGaaggtcttcccacatgtctt	11	8	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.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		Somatic					p.F481L	NM_024784.3	NP_079060.1	WXS	Illumina GAIIx	Phase_I	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	16	106	---	---	---	---	C	62519844	G	C	62519844	3	2	58	1	0	0	0	0	1	0	0	0	17531	933	33	4	285	4	ZBTB3	11	62519844	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		62519844	72486672	20	2782										
TAF1D	79101	broad.mit.edu	37	chr11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	atggtattggttcaaaagatGagtcacttgatgaatcactt	9	5	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.chr11:93471531G>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		Somatic					p.S68L	NM_024116.3	NP_077021.1	WXS	Illumina GAIIx	Phase_I	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	93	178	---	---	---	---	A	93471531	G	A	93471531	3	1	58	1	0	0	0	0	1	0	0	0	15519	1294	45	2	649	2	TAF1D	11	93471531	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	30951687	93471531	41534985	21	2783										
KRT6C	286887	broad.mit.edu	37	chr12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tgatctcagcaatctcctgcTtggtgttgcgcaggtcgtcc	11	12	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.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		Somatic					p.K378M	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	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	18	181	---	---	---	---	A	52864359	T	A	52864359	3	1	58	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	22	2784										
SLC6A15	55117	broad.mit.edu	37	chr12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	tagctcttcttcaattttacAggaattgagatgaagagcag	9	6	3	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.chr12:85266407A>T	ENST00000266682.5	-	8	1817	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S|SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S	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		Somatic				SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S|SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S	p.C426S	NM_182767.5	NP_877499.1	WXS	Illumina GAIIx	Phase_I	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	4	159	---	---	---	---	T	85266407	A	T	85266407	3	4	58	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	23	2785										
TPCN1	53373	broad.mit.edu	37	chr12	113733848	113733848	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	cccgccgcccagcagcccccAggcagccgccagcgctccca	10	24	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_ENST00000550785.1_Silent_p.P878P|TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P	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			Somatic				TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P|TPCN1_ENST00000335509.6_Silent_p.P806P	p.P878P	NM_001143819.1	NP_001137291.1	WXS	Illumina GAIIx	Phase_I	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	23	41	---	---	---	---	T	113733848	A	T	113733848	2	4	58	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	24	2786										
TMEM132B	114795	broad.mit.edu	37	chr12	126068419	126068419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	caccgaggttttgaacactgCcattctcactggaaagcctg	9	12	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.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		Somatic					p.A434V	NM_052907.2	NP_443139.2	WXS	Illumina GAIIx	Phase_I	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	8	476	---	---	---	---	T	126068419	C	T	126068419	3	4	58	1	0	0	0	0	1	0	0	0	16043	739	26	2	1319	2	TMEM132B	12	126068419	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	12334571	126068419	7783476	25	2787										
FOXA3	3171	broad.mit.edu	37	chr19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	aagatgctgaccttgagtgaAatctaccagtggatcatgga	11	7	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.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		Somatic					p.E142D	NM_004497.2	NP_004488.2	WXS	Illumina GAIIx	Phase_I	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	18	257	---	---	---	---	T	46375689	A	T	46375689	3	4	58	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	26	2788										
ZNF534	147658	broad.mit.edu	37	chr19	52937267	52937267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	caggaggagtggaaatgcctGgaccctgggcagaaagcttt	15	8	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	57	116	---	---	---	---	A	52937267	G	A	52937267	2	1	58	1	0	0	0	0	0	0	0	1	17970	1335	47	2		2	ZNF534	19	52937267	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6561578	52937267	6191716	27	2789										
TPTE	7179	broad.mit.edu	37	chr21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	ttctattatattcatacctgTtattttcaataaaagatgtg	4	5	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.chr21:10908828T>G	ENST00000361285.4	-	23	1846	c.1517A>C	c.(1516-1518)aAc>aCc	p.N506T	TPTE_ENST00000298232.7_Missense_Mutation_p.N488T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR	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		Somatic				TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T|TPTE_ENST00000415664.2_5'UTR	p.N488T	NM_199259.2	NP_954868	WXS	Illumina GAIIx	Phase_I	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	4	129	---	---	---	---	G	10908828	T	G	10908828	3	3	58	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	28	2790										
PRR5	55615	broad.mit.edu	37	chr22	45128196	45128196	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	aatgccatcaccctcagtgtGaagctagaggatgcgctggc	12	11	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.chr22:45128196G>C	ENST00000336985.6	+	6	757	c.480G>C	c.(478-480)gtG>gtC	p.V160V	PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5_ENST00000006251.7_Silent_p.V151V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000403581.1_Silent_p.V183V	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			Somatic				PRR5_ENST00000006251.7_Silent_p.V151V|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.V160V|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V	p.V183V	NM_001198721.1	NP_001185650.1	WXS	Illumina GAIIx	Phase_I				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	3	120	---	---	---	---	C	45128196	G	C	45128196	2	2	58	1	0	0	0	0	0	0	0	1	12600	1277	45	4		4	PRR5	22	45128196	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		45128196	6176370	29	2791										
FAM127A	8933	broad.mit.edu	37	chrX	134166693	134166693	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	6	0.366256066620919	3.1304347826087	5.73913043478261	1.63975155279503	0.567099567099567	1	0	agagccccctcctcaatgatTaccggggctttctggccgag	11	14	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		Somatic				FAM127A_ENST00000464369.1_Intron	p.Y94N	NM_001078171.1	NP_001071639.1	WXS	Illumina GAIIx	Phase_I	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	29	16	---	---	---	---	A	134166693	T	A	134166693	3	1	58	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		134166693	21103867	30	2792										
LRRC7	57554	broad.mit.edu	37	chr1	70502287	70502287	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	acagctaaagatgcagtacaTaattctttgtggggtaacag	10	6	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.chr1:70502287T>C	ENST00000035383.5	+	18	2184	c.2154T>C	c.(2152-2154)caT>caC	p.H718H	LRRC7_ENST00000310961.5_Silent_p.H723H|LRRC7_ENST00000415775.2_Intron	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			Somatic				LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.H718H	p.H723H			WXS	Illumina GAIIx	Phase_I	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	7	169	---	---	---	---	C	70502287	T	C	70502287	2	2	59	1	0	0	0	0	0	0	0	1	9020	1403	49	2		2	LRRC7	1	70502287	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		70502287	178748334	1	2793										
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	10	14	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.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_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		Somatic				NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D	p.G80D			WXS	Illumina GAIIx	Phase_I	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	7	493	---	---	---	---	A	145273385	G	A	145273385	3	1	59	1	0	0	0	0	1	0	0	0	10549	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	74771098	145273385	103977236	2	2794										
HRNR	388697	broad.mit.edu	37	chr1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	agctggaggagtgacctgagCcagatccatgctgagtgtaa	14	8	0	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.chr1:152191256C>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		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G950D	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	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	265	245	---	---	---	---	T	152191256	C	T	152191256	3	4	59	1	0	0	0	0	1	0	0	0	7359	739	26	2	5707	2	HRNR	1	152191256	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	6917871	152191256	97059365	3	2795										
DNMT3A	1788	broad.mit.edu	37	chr2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gcagctgcctcaggttccacCcacatgtccgtgtacacttc	8	16	1	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.chr2:25469138C>T	ENST00000264709.3	-	11	1657	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*|DNMT3A_ENST00000474887.1_5'Flank	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*		Somatic				DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*	p.W440*	NM_175629.2	NP_783328.1	WXS	Illumina GAIIx	Phase_I	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	61	146	---	---	---	---	T	25469138	C	T	25469138	4	4	59	1	0	0	0	0	0	1	0	0	4676	624	22	2	1470	2	DNMT3A	2	25469138	Nonsense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		25469138	217730235	4	2796										
BRE	9577	broad.mit.edu	37	chr2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ccccagaagtggccttgaacCgaatatctccaatgctctcc	7	15	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.chr2:28117448C>T	ENST00000342045.2	+	3	166	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_ENST00000603461.1_Intron|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000344773.2_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*		Somatic				BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron	p.R9*	NM_004899.4	NP_004890.2	WXS	Illumina GAIIx	Phase_I	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	80	268	---	---	---	---	T	28117448	C	T	28117448	4	4	59	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	5	2797										
GOLGB1	2804	broad.mit.edu	37	chr3	121413151	121413151	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gcttgtgcctttttgcggtgTtcaactgcttgagccagatt	11	9	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.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			Somatic				GOLGB1_ENST00000340645.5_Silent_p.E2068E	p.E2073E	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	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	4	317	---	---	---	---	C	121413151	T	C	121413151	2	2	59	1	0	0	0	0	0	0	0	1	6565	1722	60	2		2	GOLGB1	3	121413151	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		121413151	76609279	6	2798										
BCL6	604	broad.mit.edu	37	chr3	187451335	187451335	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	cctcacctgcaggccatgagGaccgttttatgggctctaaa	10	12	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.chr3:187451335G>A	ENST00000406870.2	-	3	513	c.147C>T	c.(145-147)gtC>gtT	p.V49V	BCL6_ENST00000450123.2_Silent_p.V49V|BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000496823.1_5'Flank|RP11-211G3.3_ENST00000449623.1_Silent_p.R51R	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			Somatic				RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000450123.2_Silent_p.V49V	p.V49V	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	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	11	190	---	---	---	---	A	187451335	G	A	187451335	2	1	59	1	0	0	0	0	0	0	0	1	1376	1161	41	2		2	BCL6	3	187451335	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	66038184	187451335	10571095	7	2799										
WDFY3	23001	broad.mit.edu	37	chr4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ttcagcaggctcaggagctgGtgtttcaggaacttgcaaaa	12	8	3	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.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		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S	p.P3238S			WXS	Illumina GAIIx	Phase_I	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	21	75	---	---	---	---	A	85603587	G	A	85603587	3	1	59	1	0	0	0	0	1	0	0	0	17267	1261	44	2	837	2	WDFY3	4	85603587	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		85603587	105550689	8	2800										
SCAMP1	9522	broad.mit.edu	37	chr5	77755186	77755186	+	Splice_Site	DEL	G	G	-													0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	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			Somatic				SCAMP1_ENST00000339292.4_Splice_Site		NM_004866.4	NP_004857.4	WXS	Illumina GAIIx	Phase_I	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	59	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	9	2801										
RASGRF2	5924	broad.mit.edu	37	chr5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ttattgaagaaggaacaccaAactttactgaggaaggcctt	9	7	0	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.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		Somatic				CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	p.N1170H	NM_006909.2	NP_008840.1	WXS	Illumina GAIIx	Phase_I	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	13	217	---	---	---	---	C	80513248	A	C	80513248	3	2	59	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	10	2802										
SLC25A27	9481	broad.mit.edu	37	chr6	46623671	46623671	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gacggtgcaagagaatctgcCccctataggggaatggtgcg	15	9	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.chr6:46623671C>A	ENST00000371347.5	+	2	450	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Silent_p.A66A	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	140	---	---	---	---	A	46623671	C	A	46623671	2	1	59	1	0	0	0	0	0	0	0	1	14490	610	22	1		1	SLC25A27	6	46623671	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		46623671	124491396	11	2803										
ABCA13	154664	broad.mit.edu	37	chr7	48315047	48315047	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	cataagatattaccgtttgtCccaccttcaataaatcaaac	3	11	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.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			Somatic					p.V1928V	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	88	250	---	---	---	---	T	48315047	C	T	48315047	2	4	59	1	0	0	0	0	0	0	0	1	31	842	30	2		2	ABCA13	7	48315047	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		48315047	110823616	12	2804										
LRRC17	10234	broad.mit.edu	37	chr7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ttcatttacacacctctcttGagctacctgcgtctttatga	5	12	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.chr7:102574825G>C	ENST00000339431.4	+	2	760	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.L155F	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		Somatic				FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000436908.1_Intron	p.L155F	NM_005824.2	NP_005815.2	WXS	Illumina GAIIx	Phase_I	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	41	120	---	---	---	---	C	102574825	G	C	102574825	3	2	59	1	0	0	0	0	1	0	0	0	8973	1281	45	4	467	4	LRRC17	7	102574825	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	54259778	102574825	56563838	13	2805										
ADAMTS13	11093	broad.mit.edu	37	chr9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gaaggctcaggccagcctgcGgggccagtactggaccctcc	14	15	1	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.chr9:136324223G>A	ENST00000371929.3	+	29	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	ADAMTS13_ENST00000371916.1_3'UTR|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|CACFD1_ENST00000316948.4_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|CACFD1_ENST00000540581.1_5'Flank|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		Somatic				ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	p.R1402Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina GAIIx	Phase_I	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	7	26	---	---	---	---	A	136324223	G	A	136324223	3	1	59	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	14	2806										
SUPV3L1	6832	broad.mit.edu	37	chr10	70940278	70940278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	cctcagggccccagcgccgaCggcgacgtcggggccgagct	16	17	1	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			Somatic				SUPV3L1_ENST00000483572.1_3'UTR	p.D77D	NM_003171.3	NP_003162.2	WXS	Illumina GAIIx	Phase_I	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	31	78	---	---	---	---	T	70940278	C	T	70940278	2	4	59	1	0	0	0	0	0	0	0	1	15399	535	19	2		2	SUPV3L1	10	70940278	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		70940278	64594469	15	2807										
IFIT1	3434	broad.mit.edu	37	chr10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	atcatcaggtcaaggatagtCtggagcaattgagatgtcac	11	7	5	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.chr10:91162072C>A	ENST00000371804.3	+	2	207	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_5'UTR	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		Somatic				IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	p.L14M	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	WXS	Illumina GAIIx	Phase_I	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	17	144	---	---	---	---	A	91162072	C	A	91162072	3	1	59	1	0	0	0	0	1	0	0	0	7521	912	32	3	46	3	IFIT1	10	91162072	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	20221794	91162072	44372675	16	2808										
OR4A15	81328	broad.mit.edu	37	chr11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	acttgctctctgagaaaaagAccatttcctttcagggttgt	8	9	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.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		Somatic					p.T119S	NM_001005275.1	NP_001005275.1	WXS	Illumina GAIIx	Phase_I	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	11	364	---	---	---	---	T	55135714	A	T	55135714	3	4	59	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	17	2809										
ATM	472	broad.mit.edu	37	chr11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	tgatgctttctggctggattTaaattatctagaagttgcca	9	6	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.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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron	p.L1936S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	37	91	---	---	---	---	C	108180931	T	C	108180931	3	2	59	1	0	0	0	0	1	0	0	0	1109	1764	61	2	5957	2	ATM	11	108180931	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	53045217	108180931	26825585	18	2810										
USP28	57646	broad.mit.edu	37	chr11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ggtctacaaattttctatttGatcccatcattagagcaaac	5	9	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.chr11:113704218G>C	ENST00000003302.4	-	7	751	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*	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*		Somatic				USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*	p.S228*	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	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	5	123	---	---	---	---	C	113704218	G	C	113704218	4	2	59	1	0	0	0	0	0	1	0	0	17055	1294	45	4	2626	4	USP28	11	113704218	Nonsense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	5523287	113704218	21302298	19	2811										
CDKN1B	1027	broad.mit.edu	37	chr12	12870993	12870994	+	Frame_Shift_Ins	INS	-	-	A													0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	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)tacfs		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		Somatic				CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs	p.Y74fs	NM_004064.3	NP_004055.1	WXS	Illumina GAIIx	Phase_I	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	59	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	20	2812										
C12orf64	283310	broad.mit.edu	37	chr12	80750271	80750271	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	attgattgttggccacagtcCtctttcttgctgtccacagt	8	11	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.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		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.P1940R|OTOGL_ENST00000546620.1_5'UTR	p.P1952R	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					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	22	99	---	---	---	---	G	80750271	C	G	80750271	3	3	59	1	0	0	0	0	1	0	0	0	1707	681	24	4	6041	4	C12orf64	12	80750271	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	67879278	80750271	53101624	21	2813										
ISCU	23479	broad.mit.edu	37	chr12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ctaaaaatgttggaactggaCtggtgggggctccagcatgt	14	7	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.chr12:108958127C>A	ENST00000311893.9	+	2	209	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	SART3_ENST00000228284.3_5'Flank|ISCU_ENST00000535729.1_Missense_Mutation_p.L63M|ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000431221.2_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		Somatic				ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M	p.L63M			WXS	Illumina GAIIx	Phase_I	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	22	78	---	---	---	---	A	108958127	C	A	108958127	3	1	59	1	0	0	0	0	1	0	0	0	7852	564	20	3	118	3	ISCU	12	108958127	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	28207856	108958127	24893768	22	2814										
MYH7	4625	broad.mit.edu	37	chr14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	caccctcagggcctcgttgcGgctgcgtgtctctgcgtcca	12	16	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.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	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)	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		Somatic					p.R1608C	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	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	58	118	---	---	---	---	A	23885344	G	A	23885344	3	1	59	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	23	2815										
NUMB	8650	broad.mit.edu	37	chr14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ctgaggccaacctgccatcaTctacaccattgaaagctgca	7	14	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.chr14:73743464T>G	ENST00000355058.3	-	13	2056	c.1778A>C	c.(1777-1779)gAt>gCt	p.D593A	NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000556772.1_Missense_Mutation_p.D449A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A			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		Somatic				NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A	p.D449A			WXS	Illumina GAIIx	Phase_I	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	17	36	---	---	---	---	G	73743464	T	G	73743464	3	3	59	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	24	2816										
EML5	161436	broad.mit.edu	37	chr14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ctgttgccacgtagtctttcAaaggatgaatagttaggcag	11	7	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.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		Somatic				EML5_ENST00000380664.5_Missense_Mutation_p.L738S|EML5_ENST00000352093.5_Missense_Mutation_p.L738S	p.L738S	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	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	8	58	---	---	---	---	G	89168815	A	G	89168815	3	3	59	1	0	0	0	0	1	0	0	0	5100	131	5	2	3840	2	EML5	14	89168815	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08	15425351	89168815	18180725	25	2817										
DMXL2	23312	broad.mit.edu	37	chr15	51750826	51750826	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	caatttcattacaatttgccTataaagcaaaggcagaatcg	6	8	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.chr15:51750826T>C	ENST00000251076.5	-	35	8298		c.e35-2		RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|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			Somatic				RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Splice_Site		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina GAIIx	Phase_I	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	32	79	---	---	---	---	C	51750826	T	C	51750826	5	2	59	1	0	0	0	0	0	0	1	0	4595	1536	53	2	1137	2	DMXL2	15	51750826	Splice_Site	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		51750826	50780566	26	2818										
UACA	55075	broad.mit.edu	37	chr15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	ttcagatgtgagagcgtgtaTtttctcctggtcttcaccac	9	10	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.chr15:70960502T>C	ENST00000322954.6	-	16	2706	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V	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		Somatic				UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V	p.I841V	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	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	38	162	---	---	---	---	C	70960502	T	C	70960502	3	2	59	1	0	0	0	0	1	0	0	0	16821	1493	52	2	1745	2	UACA	15	70960502	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	19209676	70960502	31570890	27	2819										
LRRC49	54839	broad.mit.edu	37	chr15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gttaccccagtatcgtctgaTttccattctgggtgatgcca	9	11	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.chr15:71305231T>C	ENST00000260382.5	+	14	1942	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T|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		Somatic				LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T	p.I561T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	WXS	Illumina GAIIx	Phase_I	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	44	146	---	---	---	---	C	71305231	T	C	71305231	3	2	59	1	0	0	0	0	1	0	0	0	9006	1493	52	2	1736	2	LRRC49	15	71305231	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	344729	71305231	31226161	28	2820										
ZNF629	23361	broad.mit.edu	37	chr16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	tcccgcactcggggcacttgTagggtttctcgcctgtgtgg	14	12	1	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.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		Somatic					p.Y290C	NM_001080417.1	NP_001073886.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	C	30794780	T	C	30794780	3	2	59	1	0	0	0	0	1	0	0	0	18050	1638	57	2	1744	2	ZNF629	16	30794780	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		30794780	59559973	29	2821										
NCOR1	9611	broad.mit.edu	37	chr17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	taatgtgtcgctggtagagaGcatagccgctcactggggtt	14	8	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.chr17:15995320G>A	ENST00000268712.3	-	22	3130	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V	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		Somatic				NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V	p.A958V	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	4	166	---	---	---	---	A	15995320	G	A	15995320	3	1	59	1	0	0	0	0	1	0	0	0	10235	971	34	2	4549	2	NCOR1	17	15995320	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		15995320	65199890	30	2822										
UBB	7314	broad.mit.edu	37	chr17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	agataaagaaggcatcccccCcgaccagcagaggctcatct	9	14	2	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.chr17:16285790C>A	ENST00000395837.1	+	2	750	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBB_ENST00000395839.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000302182.3_Missense_Mutation_p.P190H|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Missense_Mutation_p.P114H	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		Somatic				RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.P114H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H	p.P190H	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	A	16285790	C	A	16285790	3	1	59	1	0	0	0	0	1	0	0	0	16838	623	22	1	571	1	UBB	17	16285790	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	290470	16285790	64909420	31	2823										
HOXB13	10481	broad.mit.edu	37	chr17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gctgtacggaatgcgtttctTgcggccgcgacgaaaggcgc	15	11	1	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.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		Somatic					p.K218E	NM_006361.5	NP_006352.2	WXS	Illumina GAIIx	Phase_I	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	20	67	---	---	---	---	C	46804355	T	C	46804355	3	2	59	1	0	0	0	0	1	0	0	0	7300	1821	63	2	206	2	HOXB13	17	46804355	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	30518565	46804355	34390855	32	2824										
SEC14L1	6397	broad.mit.edu	37	chr17	75205504	75205504	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gagaacgaagacctgaagctCtggactgagaccatctacca	10	11	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.chr17:75205504C>G	ENST00000413679.2	+	14	1860	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000431431.2_Silent_p.L485L|SEC14L1_ENST00000430767.4_Silent_p.L519L	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			Somatic				SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L	p.L519L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	WXS	Illumina GAIIx	Phase_I	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	9	30	---	---	---	---	G	75205504	C	G	75205504	2	3	59	1	0	0	0	0	0	0	0	1	13981	900	32	4		4	SEC14L1	17	75205504	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	28401149	75205504	5989706	33	2825										
ZNF492	57615	broad.mit.edu	37	chr19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gtctggagcaaggaaaagaaCcttggaatgtgaagagacat	13	5	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.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		Somatic					p.P30S	NM_020855.2	NP_065906.1	WXS	Illumina GAIIx	Phase_I	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	42	102	---	---	---	---	T	22836775	C	T	22836775	3	4	59	1	0	0	0	0	1	0	0	0	17940	507	18	2	94	2	ZNF492	19	22836775	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		22836775	36292208	34	2826										
CEACAM6	4680	broad.mit.edu	37	chr19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	tacaagtcataaagtcagatCttgtgaatgaagaagcaacc	8	7	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.chr19:42260828C>A	ENST00000199764.6	+	2	603	c.385C>A	c.(385-387)Ctt>Att	p.L129I	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	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		Somatic				CEA_ENST00000598976.1_Intron	p.L129I	NM_002483.4	NP_002474.3	WXS	Illumina GAIIx	Phase_I	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	6	480	---	---	---	---	A	42260828	C	A	42260828	3	1	59	1	0	0	0	0	1	0	0	0	3196	913	32	3	391	3	CEACAM6	19	42260828	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	19424053	42260828	16868155	35	2827										
PCDH19	57526	broad.mit.edu	37	chrX	99551705	99551705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.21875	4.875	0	0.166666666666667	1	0	gtttggtggggccgcagtcgTcataagcctcgacatcagca	13	11	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.chrX:99551705T>C	ENST00000373034.4	-	6	4692	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G	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		Somatic				PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G	p.D1006G	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	C	99551705	T	C	99551705	3	2	59	1	0	0	0	0	1	0	0	0	11514	1667	58	2	433	2	PCDH19	23	99551705	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		99551705	55718855	36	2828										
INADL	10207	broad.mit.edu	37	chr1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tgcgtattggagatgaactcTtagaggtgagaagcatgtgt	14	4	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.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.L1288V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	54	---	---	---	---	G	62456031	T	G	62456031	3	3	60	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		62456031	186794590	1	2829										
ZZZ3	26009	broad.mit.edu	37	chr1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	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)agafs		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		Somatic				ZZZ3_ENST00000370798.1_Intron	p.R107fs	NM_015534.4	NP_056349.1	WXS	Illumina GAIIx	Phase_I	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	60	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	2	2830										
MCOLN3	55283	broad.mit.edu	37	chr1	85510885	85510885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ggttttctacctcgagcccaGaacttctcacagggattcat	8	12	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.chr1:85510885G>A	ENST00000370589.2	-	2	211	c.159C>T	c.(157-159)ttC>ttT	p.F53F	MCOLN3_ENST00000341115.4_Silent_p.F53F|MCOLN3_ENST00000370587.1_Silent_p.F53F|WDR63_ENST00000370596.1_Intron	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			Somatic				WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F|MCOLN3_ENST00000370589.2_Silent_p.F53F	p.F53F			WXS	Illumina GAIIx	Phase_I	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	7	140	---	---	---	---	A	85510885	G	A	85510885	2	1	60	1	0	0	0	0	0	0	0	1	9397	933	33	2		2	MCOLN3	1	85510885	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	7412163	85510885	163739736	3	2831										
KCND3	3752	broad.mit.edu	37	chr1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tccagtggttttacaaggcgGagaccttgacaacattgctg	11	9	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.chr1:112318709G>C	ENST00000315987.2	-	8	2437	c.1958C>G	c.(1957-1959)tCc>tGc	p.S653C	KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000369697.1_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		Somatic				KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C	p.S634C			WXS	Illumina GAIIx	Phase_I	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	29	82	---	---	---	---	C	112318709	G	C	112318709	3	2	60	1	0	0	0	0	1	0	0	0	8020	1174	41	4	13	4	KCND3	1	112318709	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26807824	112318709	136931912	4	2832										
NOTCH2	4853	broad.mit.edu	37	chr1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cacctcgcatctgtatccacCaatgaagtcactgcatgttg	7	13	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.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		Somatic					p.G1169S	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	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	18	148	---	---	---	---	T	120479922	C	T	120479922	3	4	60	1	0	0	0	0	1	0	0	0	10548	594	21	2	3966	2	NOTCH2	1	120479922	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8161213	120479922	128770699	5	2833										
PIAS3	10401	broad.mit.edu	37	chr1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ccaagaggcccagccgccccAtcaacatcacacccctggct	7	20	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.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		Somatic				PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	p.I242V	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	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	14	205	---	---	---	---	G	145580242	A	G	145580242	3	3	60	1	0	0	0	0	1	0	0	0	11877	217	8	2	746	2	PIAS3	1	145580242	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	25100320	145580242	103670379	6	2834										
FLG	2312	broad.mit.edu	37	chr1	152275293	152275293	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gttgcataataccttggatgAtctttaccaaacgcacttgc	7	10	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.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_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			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D4023D	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	68	192	---	---	---	---	G	152275293	A	G	152275293	2	3	60	1	0	0	0	0	0	0	0	1	5922	330	12	2		2	FLG	1	152275293	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	6695051	152275293	96975328	7	2835										
LY9	4063	broad.mit.edu	37	chr1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	caggagccccaagtcaccatGaagtctgtgaaggtgtctga	12	10	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.chr1:160783454G>C	ENST00000263285.6	+	3	513	c.483G>C	c.(481-483)atG>atC	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|LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000368037.5_Missense_Mutation_p.M161I			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																																						ENST00000368037.5																			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		Somatic				LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000263285.6_Missense_Mutation_p.M161I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.M161I|LY9_ENST00000341032.4_Missense_Mutation_p.M161I	p.M161I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	597	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)					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	10	114	---	---	---	---	C	160783454	G	C	160783454	3	2	60	1	0	0	0	0	1	0	0	0	9101	1290	45	4	625	4	LY9	1	160783454	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	8508161	160783454	88467167	8	2836										
CEP350	9857	broad.mit.edu	37	chr1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tatggcttcaaggccattaaCttttacacctcaaccatatg	5	11	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.chr1:179989287C>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		Somatic					p.T793S	NM_014810.4	NP_055625.4	WXS	Illumina GAIIx	Phase_I	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	63	131	---	---	---	---	G	179989287	C	G	179989287	3	3	60	1	0	0	0	0	1	0	0	0	3254	565	20	4	2420	4	CEP350	1	179989287	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	19205833	179989287	69261334	9	2837										
HMCN1	83872	broad.mit.edu	37	chr1	186055463	186055463	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ttgacctgtgaggtctctggTtttccacctcctgacctcag	9	13	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.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			Somatic				HMCN1_ENST00000367492.2_Silent_p.G2990G	p.G2990G	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	27	114	---	---	---	---	G	186055463	T	G	186055463	2	3	60	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	10	2838										
CR1L	1379	broad.mit.edu	37	chr1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tcccggcgctttcctgggttGcttctggcggccctggtgtt	14	13	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.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		Somatic					p.L19F	NM_175710.1	NP_783641.1	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	C	207818635	G	C	207818635	3	2	60	1	0	0	0	0	1	0	0	0	3841	1310	46	4	59	4	CR1L	1	207818635	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	21763172	207818635	41431986	11	2839										
ABCG5	64240	broad.mit.edu	37	chr2	44040309	44040309	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	acaactattcctaggatgacAagagctggaataaatgaata	8	6	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.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			Somatic				ABCG5_ENST00000260645.1_Silent_p.L634L|ABCG5_ENST00000405322.1_Silent_p.L463L	p.L239L			WXS	Illumina GAIIx	Phase_I	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	26	60	---	---	---	---	T	44040309	A	T	44040309	2	4	60	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		44040309	199159064	12	2840										
GPR75	10936	broad.mit.edu	37	chr2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aattctggttcctatacagaGccggcatggcacactggatg	11	10	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.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		Somatic				ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	p.A270V	NM_006794.3	NP_006785.1	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	A	54081085	G	A	54081085	3	1	60	1	0	0	0	0	1	0	0	0	6708	971	34	2	817	2	GPR75	2	54081085	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10040776	54081085	189118288	13	2841										
RETSAT	54884	broad.mit.edu	37	chr2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tccttggtgcctcgcaggcaGatgaaaacagaggtcatgcc	12	11	1	3	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_ENST00000263854.6_Missense_Mutation_p.I392M|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M	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		Somatic				RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M	p.I392M	NM_017750.3	NP_060220.3	WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	C	85571797	G	C	85571797	3	2	60	1	0	0	0	0	1	0	0	0	13238	932	33	4	676	4	RETSAT	2	85571797	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	31490712	85571797	157627576	14	2842										
VWC2L	402117	broad.mit.edu	37	chr2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tcatgaagcttgcatacttcTgttggtcatccctggattgg	10	9	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.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R	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		Somatic				VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	p.L12R	NM_001080500.2	NP_001073969.1	WXS	Illumina GAIIx	Phase_I	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	9	107	---	---	---	---	G	215278952	T	G	215278952	3	3	60	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	129707155	215278952	27920421	15	2843										
BARD1	580	broad.mit.edu	37	chr2	215645851	215645851	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ccatttatctgaggactggaGataacagatggttggctaca	11	7	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.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000449967.2_Silent_p.I105I|BARD1_ENST00000471787.1_5'UTR	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			Somatic				BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.I105I	p.I249I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	WXS	Illumina GAIIx	Phase_I	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	54	115	---	---	---	---	A	215645851	G	A	215645851	2	1	60	1	0	0	0	0	0	0	0	1	1312	932	33	2		2	BARD1	2	215645851	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	366899	215645851	27553522	16	2844										
STK36	64320	broad.mit.edu	37	chr2	219538385	219538385	+	5'Flank	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	catcccaaaattggggcgctCagagaaggagctgaggaatt	13	8	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.chr2:219538385C>T	ENST00000295704.2	-	0	0				STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L|STK36_ENST00000295709.3_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	20	39	---	---	---	---	T	219538385	C	T	219538385	1	4	60	0	1	0	0	0	0	0	0	0	15301	838	29	2		2	STK36	2	219538385	5'Flank	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	3892534	219538385	23660988	17	2845										
LRRC3B	116135	broad.mit.edu	37	chr3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gtccgacaatcggattcaaaGtgtgcacaaaaatgccttca	8	10	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.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_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		Somatic				LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T	p.S127T	NM_052953.2	NP_443185.1	WXS	Illumina GAIIx	Phase_I	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	25	43	---	---	---	---	C	26751543	G	C	26751543	3	2	60	1	0	0	0	0	1	0	0	0	8996	1029	36	4	382	4	LRRC3B	3	26751543	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		26751543	171270887	18	2846										
XIRP1	165904	broad.mit.edu	37	chr3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	catgggctgctctcctgaggGgccggggccccactgtggtg	17	13	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.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T	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		Somatic				XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T|XIRP1_ENST00000396251.1_3'UTR	p.P1444T	NM_194293.2	NP_919269.2	WXS	Illumina GAIIx	Phase_I	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	34	112	---	---	---	---	T	39226607	G	T	39226607	3	4	60	1	0	0	0	0	1	0	0	0	17426	1232	43	1	1205	1	XIRP1	3	39226607	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	12475064	39226607	158795823	19	2847										
CCR9	10803	broad.mit.edu	37	chr3	45942586	45942586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ctctttcttgtcactcttccCttctgggccattgctgctgc	7	15	5	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.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.P90P	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			Somatic				CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.P90P|LZTFL1_ENST00000539217.1_Intron	p.P102P	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	WXS	Illumina GAIIx	Phase_I	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	8	396	---	---	---	---	T	45942586	C	T	45942586	2	4	60	1	0	0	0	0	0	0	0	1	2948	668	24	2		2	CCR9	3	45942586	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	6715979	45942586	152079844	20	2848										
EIF4G1	1981	broad.mit.edu	37	chr3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	attgtggcccagacttcactCcatcctttgccaaccttggc	7	15	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.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_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000342981.4_Missense_Mutation_p.P668A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A	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		Somatic				EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A	p.P668A	NM_182917.4	NP_886553	WXS	Illumina GAIIx	Phase_I	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	5	190	---	---	---	---	G	184040943	C	G	184040943	3	3	60	1	0	0	0	0	1	0	0	0	5036	855	30	4	2048	4	EIF4G1	3	184040943	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	138098357	184040943	13981487	21	2849										
DNAJB11	51726	broad.mit.edu	37	chr3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gctccccaactttgacaacaAcaatatcaagggctctttga	6	12	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.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		Somatic				DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S	p.N312S			WXS	Illumina GAIIx	Phase_I	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	25	39	---	---	---	---	G	186302301	A	G	186302301	3	3	60	1	0	0	0	0	1	0	0	0	4616	43	2	2	969	2	DNAJB11	3	186302301	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	2261358	186302301	11720129	22	2850										
PPEF2	5470	broad.mit.edu	37	chr4	76813115	76813115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cggtaccatctctggatcagGgctgctgccttgaaggctat	12	11	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.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			Somatic				PPEF2_ENST00000510607.1_5'UTR	p.A24A	NM_006239.2	NP_006230.2	WXS	Illumina GAIIx	Phase_I	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	19	69	---	---	---	---	A	76813115	G	A	76813115	2	1	60	1	0	0	0	0	0	0	0	1	12308	1219	43	2		2	PPEF2	4	76813115	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		76813115	114341161	23	2851										
GHR	2690	broad.mit.edu	37	chr5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	caccttatcatgatgcttgcCctgctactcagcagcccagt	7	15	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.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000357703.3_Missense_Mutation_p.P419T|GHR_ENST00000537449.1_Missense_Mutation_p.P254T	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		Somatic				GHR_ENST00000357703.3_Missense_Mutation_p.P419T|GHR_ENST00000537449.1_Missense_Mutation_p.P254T	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	WXS	Illumina GAIIx	Phase_I	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	4	83	---	---	---	---	A	42718930	C	A	42718930	3	1	60	1	0	0	0	0	1	0	0	0	6371	623	22	1	1355	1	GHR	5	42718930	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		42718930	138196330	24	2852										
CHSY3	337876	broad.mit.edu	37	chr5	129520761	129520761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agattcatggagaactttgaAaacatgtgtcttatcccaaa	7	7	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.chr5:129520761A>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			Somatic					p.E642E	NM_175856.4	NP_787052.3	WXS	Illumina GAIIx	Phase_I	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	3	161	---	---	---	---	G	129520761	A	G	129520761	2	3	60	1	0	0	0	0	0	0	0	1	3413	11	1	2		2	CHSY3	5	129520761	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	86801831	129520761	51394499	25	2853										
PCDHA12	56137	broad.mit.edu	37	chr5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gcgtccaaaagacacggggaCcttctggaggtaaatctgca	12	10	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.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_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	56137							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		Somatic				PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.D73E	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	59	134	---	---	---	---	A	140255276	C	A	140255276	3	1	60	1	0	0	0	0	1	0	0	0	11522	506	18	3	221	3	PCDHA12	5	140255276	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	10734515	140255276	40659984	26	2854										
LARP1	23367	broad.mit.edu	37	chr5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gcagtttgacacactgacccCtgagccccctgtggatccca	9	16	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.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		Somatic					p.P648H	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	A	154182914	C	A	154182914	3	1	60	1	0	0	0	0	1	0	0	0	8628	681	24	1	1989	1	LARP1	5	154182914	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	13927638	154182914	26732346	27	2855										
CRISP2	7180	broad.mit.edu	37	chr6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ctttggtcctacaccatagaCaaaatctaggatctcgtcat	6	11	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.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		Somatic					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	WXS	Illumina GAIIx	Phase_I	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	4	182	---	---	---	---	G	49666128	C	G	49666128	3	3	60	1	0	0	0	0	1	0	0	0	3880	478	17	4	383	4	CRISP2	6	49666128	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		49666128	121448939	28	2856										
SERINC1	57515	broad.mit.edu	37	chr6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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																																						ENST00000339697.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(1024-1026)aatfs		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		Somatic					p.N342fs	NM_020755.2	NP_065806.1	WXS	Illumina GAIIx	Phase_I	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	9	1110	-								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	60	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	73101991	122768119	48346948	29	2857										
MOXD1	26002	broad.mit.edu	37	chr6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tgccttaccgttatactcttGtcatttatgtcacatgtatg	6	9	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.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		Somatic				MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	p.D133E	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	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	61	156	---	---	---	---	T	132695782	G	T	132695782	3	4	60	1	0	0	0	0	1	0	0	0	9720	1368	48	3	1486	3	MOXD1	6	132695782	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9927663	132695782	38419285	30	2858										
SYNE1	23345	broad.mit.edu	37	chr6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cgcttcatgactagacgaagTcttcaacaaagaaaactcag	7	10	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.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S	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)	Somatic				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S	p.T5132S	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	46	79	---	---	---	---	A	152647137	T	A	152647137	3	1	60	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	19951355	152647137	18467930	31	2859										
ABCA13	154664	broad.mit.edu	37	chr7	48318294	48318294	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ctcttagaaatgtctgggacTctggtcatgctgttgaatga	11	7	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.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			Somatic					p.T2501T	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	29	378	---	---	---	---	C	48318294	T	C	48318294	2	2	60	1	0	0	0	0	0	0	0	1	31	1538	54	2		2	ABCA13	7	48318294	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		48318294	110820369	32	2860										
PEG10	23089	broad.mit.edu	37	chr7	94293408	94293408	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ctgcgccaaggcatggggtcTgtcatcgactactccaatgc	11	13	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	25	271	---	---	---	---	C	94293408	T	C	94293408	2	2	60	1	0	0	0	0	0	0	0	1	11719	1580	55	2		2	PEG10	7	94293408	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	45975114	94293408	64845255	33	2861										
RINT1	60561	broad.mit.edu	37	chr7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tttctggatgagaagattcaGccaatattagacaaagtagg	10	5	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.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		Somatic					p.Q356H	NM_021930.4	NP_068749.3	WXS	Illumina GAIIx	Phase_I	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	8	117	---	---	---	---	C	105190573	G	C	105190573	3	2	60	1	0	0	0	0	1	0	0	0	13376	962	34	4	1098	4	RINT1	7	105190573	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10897165	105190573	53948090	34	2862										
DPP6	1804	broad.mit.edu	37	chr7	154667617	154667617	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cccgggattctctttccaggGatggcaccccaggcagccag	12	15	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.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_ENST00000427557.1_Splice_Site_p.D522N|DPP6_ENST00000404039.1_Splice_Site_p.D565N			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.(1693-1695)Gat>Aat		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			Somatic				DPP6_ENST00000377770.3_Splice_Site_p.D629N|DPP6_ENST00000332007.3_Splice_Site_p.D567N|DPP6_ENST00000427557.1_Splice_Site_p.D522N	p.D565N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	WXS	Illumina GAIIx	Phase_I	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.1693G>A		.	.	.	.	.	.	.	.	.	.	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	5	13	---	---	---	---	A	154667617	G	A	154667617	5	1	60	1	0	0	0	0	0	0	1	0	4730	1188	41	2	2079	2	DPP6	7	154667617	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	49477044	154667617	4471046	35	2863										
MTMR7	9108	broad.mit.edu	37	chr8	17169089	17169089	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	accgagcacacctgagcggtCctgtcccagccatcagaaca	9	16	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.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			Somatic				MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR	p.R344R	NM_004686.4	NP_004677.3	WXS	Illumina GAIIx	Phase_I	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	37	203	---	---	---	---	T	17169089	C	T	17169089	2	4	60	1	0	0	0	0	0	0	0	1	9948	854	30	2		2	MTMR7	8	17169089	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		17169089	129194933	36	2864										
EBF2	64641	broad.mit.edu	37	chr8	25745379	25745379	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tcgctccatacaagcatagtCccaaacaccacttggagacc	6	15	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.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			Somatic				EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	p.G287G	NM_022659.3	NP_073150.2	WXS	Illumina GAIIx	Phase_I	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	35	67	---	---	---	---	A	25745379	C	A	25745379	2	1	60	1	0	0	0	0	0	0	0	1	4881	842	30	3		3	EBF2	8	25745379	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8576290	25745379	120618643	37	2865										
PRKDC	5591	broad.mit.edu	37	chr8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ccatgaaagaatagtggccaCtatctcaaccaccatgtagt	7	11	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.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L	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		Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L	p.V2189L	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	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	5	24	---	---	---	---	A	48769758	C	A	48769758	3	1	60	1	0	0	0	0	1	0	0	0	12521	565	20	3	5970	3	PRKDC	8	48769758	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	23024379	48769758	97594264	38	2866										
ESRP1	54845	broad.mit.edu	37	chr8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aggtttaccatggcagtcttCagatcaagatattgcaagat	9	7	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.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_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*		Somatic				ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*	p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	WXS	Illumina GAIIx	Phase_I	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	32	96	---	---	---	---	G	95676990	C	G	95676990	4	3	60	1	0	0	0	0	0	1	0	0	5258	838	29	4	736	4	ESRP1	8	95676990	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	46907232	95676990	50687032	39	2867										
TM7SF4	81501	broad.mit.edu	37	chr8	105361522	105361522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agtatgaaaacatctacatcAccagacaatttgttcagttt	5	8	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.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		Somatic				DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T248A	p.T248A	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	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	11	172	---	---	---	---	G	105361522	A	G	105361522	3	3	60	1	0	0	0	0	1	0	0	0	15973	159	6	2	744	2	TM7SF4	8	105361522	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	9684532	105361522	41002500	40	2868										
ASAP1	50807	broad.mit.edu	37	chr8	131249205	131249205	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	attgcttttacagacttcttCactttctgaagggctgttct	7	9	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.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			Somatic				ASAP1_ENST00000518721.1_Silent_p.V74V	p.V74V			WXS	Illumina GAIIx	Phase_I	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	20	67	---	---	---	---	G	131249205	C	G	131249205	2	3	60	1	0	0	0	0	0	0	0	1	1010	813	29	4		4	ASAP1	8	131249205	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	25887683	131249205	15114817	41	2869										
LRRC14	9684	broad.mit.edu	37	chr8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gctggcacccttccagggtcTgttgcaggcatcagcagcca	12	14	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.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		Somatic				LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	WXS	Illumina GAIIx	Phase_I	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	21	46	---	---	---	---	G	145746456	T	G	145746456	3	3	60	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	42	2870										
LINGO2	158038	broad.mit.edu	37	chr9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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)gacfs		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		Somatic				LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	p.D523fs	NM_152570.2	NP_689783.1	WXS	Illumina GAIIx	Phase_I	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	60	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	43	2871										
TLN1	7094	broad.mit.edu	37	chr9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tacttacctggcagctgcagCcagctgactcttgaggttag	11	11	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.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		Somatic				TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	p.A1336S	NM_006289.3	NP_006280.3	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	A	35711265	C	A	35711265	3	1	60	1	0	0	0	0	1	0	0	0	15944	739	26	3	3731	3	TLN1	9	35711265	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	7762162	35711265	105502166	44	2872										
FAM75C1	441452	broad.mit.edu	37	chr9	90535282	90535282	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cccggtcctctcatgagcctAtggaagatgctgctcccatt	9	14	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.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			441452							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			Somatic								WXS	Illumina GAIIx	Phase_I					0	1186	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		4	226	4	226	---	---	---	---	G	90535282	A	G	90535282	1	3	60	0	1	0	0	0	0	0	0	0	5623	449	16	2		2	FAM75C1	9	90535282	RNA	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	54824017	90535282	50678149	45	2873										
OR1J1	347168	broad.mit.edu	37	chr9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tctcagactgtaaatgaatgGgttcaacatgggagtgactg	12	6	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.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		Somatic					p.P287T	NM_001004451.1	NP_001004451.1	WXS	Illumina GAIIx	Phase_I	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	63	151	---	---	---	---	T	125239347	G	T	125239347	3	4	60	1	0	0	0	0	1	0	0	0	10959	1232	43	1	112	1	OR1J1	9	125239347	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	34704065	125239347	15974084	46	2874										
PFKP	5214	broad.mit.edu	37	chr10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agaaactttggaaccaaaatCtctgccagagctatggagtg	10	8	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.chr10:3176719C>G	ENST00000381125.4	+	20	2143	c.2067C>G	c.(2065-2067)atC>atG	p.I689M	PFKP_ENST00000381072.1_Missense_Mutation_p.I107M|PFKP_ENST00000381075.2_Missense_Mutation_p.I681M	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		Somatic				PFKP_ENST00000381072.1_Missense_Mutation_p.I107M|PFKP_ENST00000381125.4_Missense_Mutation_p.I689M	p.I681M	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	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	82	212	---	---	---	---	G	3176719	C	G	3176719	3	3	60	1	0	0	0	0	1	0	0	0	11766	903	32	4	2145	4	PFKP	10	3176719	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		3176719	132358028	47	2875										
DCLRE1C	64421	broad.mit.edu	37	chr10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000453695.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs			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)tttfs	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		Somatic				DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs	p.F291fs	NM_001033855.1	NP_001029027.1	WXS	Illumina GAIIx	Phase_I	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	60	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	48	2876										
OR52D1	390066	broad.mit.edu	37	chr11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aagctctgagtacctgtggcTcccacattggcatcatcctg	9	13	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.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	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	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		Somatic				AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.S246A	NM_001005163.2	NP_001005163.1	WXS	Illumina GAIIx	Phase_I	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	7	184	---	---	---	---	G	5510672	T	G	5510672	3	3	60	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	49	2877										
UBQLNL	143630	broad.mit.edu	37	chr11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	attatcaagaagaaggcgggAaacttctgggttctgctgca	12	7	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.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		Somatic				HBG2_ENST00000380259.2_Intron	p.S212T	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	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	9	287	---	---	---	---	T	5537038	A	T	5537038	3	4	60	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	50	2878										
MRGPRX1	259249	broad.mit.edu	37	chr11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aataagacttccctgtccacGtggatccataaaaataggaa	7	9	0	1	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		Somatic					p.H243Q	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	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	12	126	---	---	---	---	T	18955603	G	T	18955603	3	4	60	1	0	0	0	0	1	0	0	0	9766	1136	40	3	243	3	MRGPRX1	11	18955603	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	13418565	18955603	116050913	51	2879										
KIAA0652	9776	broad.mit.edu	37	chr11	46670720	46670720	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agctggaaatatggtgtcttGaaatgaatgaaaagtaagtg	12	2	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.chr11:46670720G>A	ENST00000434074.1	+	5	993	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|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		Somatic				ATG13_ENST00000530500.1_Missense_Mutation_p.E23K|ATG13_ENST00000526508.1_Missense_Mutation_p.E102K|ATG13_ENST00000529655.1_Missense_Mutation_p.E102K|ATG13_ENST00000312040.4_Missense_Mutation_p.E102K|ATG13_ENST00000524625.1_Missense_Mutation_p.E102K|ATG13_ENST00000528494.1_Missense_Mutation_p.E102K|ATG13_ENST00000359513.4_Missense_Mutation_p.E102K|ATG13_ENST00000451945.1_Missense_Mutation_p.E102K	p.E102K	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	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	37	88	---	---	---	---	A	46670720	G	A	46670720	3	1	60	1	0	0	0	0	1	0	0	0	8188	1291	45	2	318	2	KIAA0652	11	46670720	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	27715117	46670720	88335796	52	2880										
GANAB	23193	broad.mit.edu	37	chr11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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_ENST00000534779.1_Frame_Shift_Ins_p.-32fs|GANAB_ENST00000534422.1_5'UTR|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)cccfs		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		Somatic				GANAB_ENST00000356638.3_Frame_Shift_Ins_p.-146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.-49fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.-32fs	p.-146fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	WXS	Illumina GAIIx	Phase_I	Q14697	GANAB_HUMAN			5	452_453	-								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	60	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	15731695	62402415	72604101	53	2881										
ODZ4	26011	broad.mit.edu	37	chr11	78516453	78516453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tggccctgggggtctcgcagTtggtgcctccccatcccaca	12	16	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.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		Somatic					p.N688I	NM_001098816.2	NP_001092286.2	WXS	Illumina GAIIx	Phase_I					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	4	9	---	---	---	---	A	78516453	T	A	78516453	3	1	60	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	16114038	78516453	56490063	54	2882										
C12orf35	55196	broad.mit.edu	37	chr12	32135815	32135815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agtacttctaatgtaagtggCagggttttggacaactcctt	10	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.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			Somatic				KIAA1551_ENST00000535596.1_Intron	p.G642G	NM_018169.3	NP_060639	WXS	Illumina GAIIx	Phase_I					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	30	47	---	---	---	---	T	32135815	C	T	32135815	2	4	60	1	0	0	0	0	0	0	0	1	1682	697	25	2		2	C12orf35	12	32135815	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		32135815	101716080	55	2883										
SLC38A2	54407	broad.mit.edu	37	chr12	46757763	46757763	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tgacagacaaatgaaaagatCagaattggcacagcatagac	9	7	1	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.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.L137L	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			Somatic				SLC38A2_ENST00000551374.1_Silent_p.L137L	p.L299L	NM_018976.4	NP_061849.2	WXS	Illumina GAIIx	Phase_I	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	14	30	---	---	---	---	G	46757763	C	G	46757763	2	3	60	1	0	0	0	0	0	0	0	1	14604	813	29	4		4	SLC38A2	12	46757763	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	14621948	46757763	87094132	56	2884										
KCTD10	83892	broad.mit.edu	37	chr12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ctcttccaccaggccttggaCtaggtagtacttggcttctg	10	12	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.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000538161.1_5'UTR	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		Somatic				KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L	p.V117L	NM_031954.3	NP_114160.1	WXS	Illumina GAIIx	Phase_I	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	28	140	---	---	---	---	G	109898479	C	G	109898479	3	3	60	1	0	0	0	0	1	0	0	0	8097	565	20	4	612	4	KCTD10	12	109898479	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	63140716	109898479	23953416	57	2885										
ACAD10	80724	broad.mit.edu	37	chr12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	acatcaggctggctaatcgtGatctagttctgaggaagaag	12	7	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.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_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.D339N	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		Somatic				ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N	p.D339N	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	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	29	387	---	---	---	---	A	112153696	G	A	112153696	3	1	60	1	0	0	0	0	1	0	0	0	108	1290	45	2	1041	2	ACAD10	12	112153696	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2255217	112153696	21698199	58	2886										
SACS	26278	broad.mit.edu	37	chr13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tctggaccattctgtctgatGctggaacagacgaaatttcc	9	10	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.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		Somatic				SACS_ENST00000382292.3_Missense_Mutation_p.A2718G|SACS_ENST00000402364.1_Missense_Mutation_p.A1968G	p.A2718G	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	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	55	128	---	---	---	---	C	23909862	G	C	23909862	3	2	60	1	0	0	0	0	1	0	0	0	13804	1319	46	4	5590	4	SACS	13	23909862	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		23909862	91260016	59	2887										
RCBTB1	55213	broad.mit.edu	37	chr13	50123715	50123715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ccccggcactggccccacatGtacacgtgcccaccctgcgt	9	20	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.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000546015.1_Silent_p.Y308Y|RCBTB1_ENST00000258646.3_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			Somatic				RCBTB1_ENST00000258646.3_Silent_p.Y308Y|RCBTB1_ENST00000546015.1_Silent_p.Y308Y	p.Y308Y	NM_018191.3	NP_060661.3	WXS	Illumina GAIIx	Phase_I	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	20	47	---	---	---	---	A	50123715	G	A	50123715	2	1	60	1	0	0	0	0	0	0	0	1	13171	1372	48	2		2	RCBTB1	13	50123715	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26213853	50123715	65046163	60	2888										
MYCBP2	23077	broad.mit.edu	37	chr13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aagcaacaactgagtatgatCtttggaagacagttctcttt	8	7	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.chr13:77664342C>A	ENST00000544440.2	-	60	10327	c.10310G>T	c.(10309-10311)aGa>aTa	p.R3437I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3475I|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_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		Somatic				MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I	p.R3475I	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	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	63	118	---	---	---	---	A	77664342	C	A	77664342	3	1	60	1	0	0	0	0	1	0	0	0	10018	913	32	3	3708	3	MYCBP2	13	77664342	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27540627	77664342	37505536	61	2889										
ADAM20	8748	broad.mit.edu	37	chr14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cactgtagaatgctctatcaGattgggaattactcccacat	7	10	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.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		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA	p.L625V	NM_003814.4	NP_003805.3	WXS	Illumina GAIIx	Phase_I	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	3	131	---	---	---	---	C	70989752	G	C	70989752	3	2	60	1	0	0	0	0	1	0	0	0	242	933	33	4	461	4	ADAM20	14	70989752	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		70989752	36359788	62	2890										
DUOX2	50506	broad.mit.edu	37	chr15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gcggctcctccagagcctgaTacacaccgtcggcgtaattg	11	14	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.chr15:45404868T>C	ENST00000603300.1	-	4	411	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.Y70C	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		Somatic				DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C	p.Y70C			WXS	Illumina GAIIx	Phase_I	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	15	29	---	---	---	---	C	45404868	T	C	45404868	3	2	60	1	0	0	0	0	1	0	0	0	4801	1406	49	2	4561	2	DUOX2	15	45404868	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		45404868	57126524	63	2891			1	10		2	2	23	N	T_C	5.969444e-05
DUOX2	50506	broad.mit.edu	37	chr15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cacaccgtcggcgtaattggCtggtacgcggcgctgcaacc	13	14	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.chr15:45404890C>G	ENST00000603300.1	-	4	389	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOXA2_ENST00000323030.5_5'Flank|DUOX2_ENST00000389039.6_Missense_Mutation_p.A63P	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		Somatic				DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P	p.A63P			WXS	Illumina GAIIx	Phase_I	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	18	28	---	---	---	---	G	45404890	C	G	45404890	3	3	60	1	0	0	0	0	1	0	0	0	4801	797	28	4	4583	4	DUOX2	15	45404890	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	22	45404890	57126502	64	2892			1	10		2	2	23	N	T_C	5.969444e-05
GNB5	10681	broad.mit.edu	37	chr15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gcatagcaacagacttctttTtggcagccatgttttcattt	7	9	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.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'Flank|GNB5_ENST00000396335.4_Intron	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	10681					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		Somatic				GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Missense_Mutation_p.K145R	p.K187R	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	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	49	80	---	---	---	---	C	52433404	T	C	52433404	3	2	60	1	0	0	0	0	1	0	0	0	6521	1841	64	2	655	2	GNB5	15	52433404	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	7028514	52433404	50097988	65	2893										
KIAA1370	56204	broad.mit.edu	37	chr15	52877000	52877000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gtgtcggatgttctctttatTaacacttctcttcacttctt	5	10	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.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		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.N1014H|RP11-23N2.4_ENST00000562062.1_RNA	p.N1007H	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	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	14	53	---	---	---	---	G	52877000	T	G	52877000	3	3	60	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	66	2894										
RSPRY1	89970	broad.mit.edu	37	chr16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	actgggaccagctgttataaCattgttactagatgaatgtc	9	7	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.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		Somatic				RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I	p.T161I			WXS	Illumina GAIIx	Phase_I	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	24	388	---	---	---	---	T	57243065	C	T	57243065	3	4	60	1	0	0	0	0	1	0	0	0	13713	478	17	2	492	2	RSPRY1	16	57243065	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		57243065	33111688	67	2895										
PDP2	57546	broad.mit.edu	37	chr16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tgcacgtggcaaatgctggtGactgccgagccatccttggt	13	11	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.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	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		Somatic				PDP2_ENST00000568720.1_Intron	p.D286N	NM_020786.2	NP_065837.1	WXS	Illumina GAIIx	Phase_I	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	14	70	---	---	---	---	A	66919043	G	A	66919043	3	1	60	1	0	0	0	0	1	0	0	0	11686	1290	45	2	858	2	PDP2	16	66919043	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9675978	66919043	23435710	68	2896										
RABEP1	9135	broad.mit.edu	37	chr17	5264856	5264856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	aaggcgatgacaccagaacaAgaagagacagcgtccctcct	10	12	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.chr17:5264856A>G	ENST00000546142.2	+	9	1636	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000262477.6_Silent_p.Q483Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR			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			Somatic				RABEP1_ENST00000408982.2_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q|RABEP1_ENST00000546142.2_Silent_p.Q483Q	p.Q483Q	NM_004703.4	NP_004694.2	WXS	Illumina GAIIx	Phase_I	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	40	34	---	---	---	---	G	5264856	A	G	5264856	2	3	60	1	0	0	0	0	0	0	0	1	12961	69	3	2		2	RABEP1	17	5264856	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08		5264856	75930354	69	2897										
KCNAB3	9196	broad.mit.edu	37	chr17	7827736	7827736	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	tggggtcacacactcaccatGatttctgcagccccccatcg	8	16	3	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			Somatic					p.I236I	NM_004732.3	NP_004723.2	WXS	Illumina GAIIx	Phase_I	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	3	57	---	---	---	---	T	7827736	G	T	7827736	2	4	60	1	0	0	0	0	0	0	0	1	8011	1280	45	3		3	KCNAB3	17	7827736	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2562880	7827736	73367474	70	2898										
MFAP4	4239	broad.mit.edu	37	chr17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ccccgccatcctcaaagcctGccacaaagagggtgtagcca	9	16	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.chr17:19288435G>A	ENST00000299610.4	-	5	581	c.497C>T	c.(496-498)gCa>gTa	p.A166V	MFAP4_ENST00000395592.2_Missense_Mutation_p.A190V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V|MFAP4_ENST00000574313.2_5'Flank	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		Somatic				MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V	p.A190V	NM_001198695.1	NP_001185624.1	WXS	Illumina GAIIx	Phase_I	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	34	37	---	---	---	---	A	19288435	G	A	19288435	3	1	60	1	0	0	0	0	1	0	0	0	9517	1319	46	2	278	2	MFAP4	17	19288435	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	11460699	19288435	61906775	71	2899										
ROCK1	6093	broad.mit.edu	37	chr18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA													0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	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																																						ENST00000399799.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(31-36)tttgaa>tttTTTgaa		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		Somatic					p.11_12insF	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			1	973_974	-	Melanoma(1;0.165)							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	60	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		18690838	59386410	72	2900										
OR7C1	26664	broad.mit.edu	37	chr19	14910838	14910838	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agcaggttcccggtgaaagtGactaggtacatggagaggaa	15	6	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.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			Somatic				OR7A5_ENST00000601611.1_Intron	p.V37V	NM_198944.1	NP_945182.1	WXS	Illumina GAIIx	Phase_I	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	6	144	---	---	---	---	C	14910838	G	C	14910838	2	2	60	1	0	0	0	0	0	0	0	1	11217	1277	45	4		4	OR7C1	19	14910838	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		14910838	44218145	73	2901										
OR7A5	26659	broad.mit.edu	37	chr19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gaagcttagagccctgcaatCatgggcacttcttgaaaaat	9	9	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.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			Somatic				OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L	p.*320L			WXS	Illumina GAIIx	Phase_I	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	63	132	---	---	---	---	A	14938095	C	A	14938095	4	1	60	1	0	0	0	0	0	0	0	0	11216	837	29	3	4	3	OR7A5	19	14938095	Nonstop_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27257	14938095	44190888	74	2902										
B3GNT3	10331	broad.mit.edu	37	chr19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cggccgctgccctgcgccgtGctgcccatgtcttggacatc	12	17	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.chr19:17922668G>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		Somatic				B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	p.A286P	NM_014256.3	NP_055071.2	WXS	Illumina GAIIx	Phase_I	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	32	114	---	---	---	---	C	17922668	G	C	17922668	3	2	60	1	0	0	0	0	1	0	0	0	1258	1319	46	4	862	4	B3GNT3	19	17922668	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2984573	17922668	41206315	75	2903										
KRTDAP	388533	broad.mit.edu	37	chr19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	caggagggagaggagcaccaCggcaggaaggaccgggatct	18	9	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.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M|KRTDAP_ENST00000479340.1_Intron	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		Somatic				KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M|KRTDAP_ENST00000479340.1_Intron	p.V9M	NM_207392.2	NP_997275.1	WXS	Illumina GAIIx	Phase_I	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	6	150	---	---	---	---	T	35981320	C	T	35981320	3	4	60	1	0	0	0	0	1	0	0	0	8580	536	19	2	298	2	KRTDAP	19	35981320	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	18058652	35981320	23147663	76	2904										
KIF16B	55614	broad.mit.edu	37	chr20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gacgcggagaaaggtctcttCttcttgtctcttcttctgca	9	11	6	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.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000378003.2_5'UTR	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*		Somatic				KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*	p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	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	76	184	---	---	---	---	A	16360552	C	A	16360552	4	1	60	1	0	0	0	0	0	1	0	0	8278	922	32	3	1890	3	KIF16B	20	16360552	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		16360552	46664968	77	2905										
NAA20	51126	broad.mit.edu	37	chr20	20013297	20013297	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	agcctgatgaggacgcttatGgtaagctcccttccatggca	11	11	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.chr20:20013297G>A	ENST00000334982.4	+	5	732	c.451G>A	c.(451-453)Gat>Aat	p.D151N	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000398602.2_Splice_Site_p.D139N|NAA20_ENST00000484480.1_3'UTR	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.(415-417)Gat>Aat		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			Somatic				NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Splice_Site_p.D151N|NAA20_ENST00000310450.4_Intron	p.D139N	NM_181527.3	NP_852668.1	WXS	Illumina GAIIx	Phase_I	P61599	NAA20_HUMAN			5	1050	+			151			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Splice_Site	SNP	ENST00000334982.4	37	c.415G>A	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	10	77	---	---	---	---	A	20013297	G	A	20013297	5	1	60	1	0	0	0	0	0	0	1	0	10120	1362	47	2	490	2	NAA20	20	20013297	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	3652745	20013297	43012223	78	2906										
STK4	6789	broad.mit.edu	37	chr20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ttaagagttggacagtggagGaccttcagaagaggctcttg	14	6	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.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	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		Somatic				STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	p.D443N	NM_006282.2	NP_006273.1	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	A	43703680	G	A	43703680	3	1	60	1	0	0	0	0	1	0	0	0	15305	1174	41	2	1369	2	STK4	20	43703680	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	23690383	43703680	19321840	79	2907										
ADNP	23394	broad.mit.edu	37	chr20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gagggcctgtggcagctgcaGcaggtttggaactggactga	17	8	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.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		Somatic				ADNP_ENST00000371602.4_Missense_Mutation_p.A429G|ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G	p.A429G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	WXS	Illumina GAIIx	Phase_I	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	64	154	---	---	---	---	C	49509965	G	C	49509965	3	2	60	1	0	0	0	0	1	0	0	0	323	971	34	4	2026	4	ADNP	20	49509965	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5806285	49509965	13515555	80	2908										
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959620	45959620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	acaggcacacagcaggactgCtggctggaggaagaggcaca	15	10	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.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_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			Somatic				TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.Q138Q	NM_198691.2	NP_941964.2	WXS	Illumina GAIIx	Phase_I	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	33	26	---	---	---	---	T	45959620	C	T	45959620	2	4	60	1	0	0	0	0	0	0	0	1	8505	796	28	2		2	KRTAP10-1	21	45959620	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		45959620	2170275	81	2909										
SF3A1	10291	broad.mit.edu	37	chr22	30736751	30736751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	ggcagaggtggaggcatgggTgtctctgggggtgggggcac	23	6	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.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																																						ENST00000215793.8																			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.(1120-1122)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			Somatic				SF3A1_ENST00000439242.1_Silent_p.T309T	p.T374T	NM_005877.4	NP_005868.1	WXS	Illumina GAIIx	Phase_I	Q15459	SF3A1_HUMAN			8	1276	-								E9PAW1	Silent	SNP	ENST00000215793.8	37	c.1122A>G	CCDS13875.1																																																																																				0.582	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		59	112	59	112	---	---	---	---	C	30736751	T	C	30736751	2	2	60	1	0	0	0	0	0	0	0	1	14146	1683	59	2		2	SF3A1	22	30736751	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		30736751	20567815	82	2910										
ISX	91464	broad.mit.edu	37	chr22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	cagcatctgtgctacttcaaCatagagattggacatgctct	8	10	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.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		Somatic				ISX_ENST00000404699.2_Missense_Mutation_p.T245R	p.T245R	NM_001008494.1	NP_001008494.1	WXS	Illumina GAIIx	Phase_I	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	3	121	---	---	---	---	G	35481682	C	G	35481682	3	3	60	1	0	0	0	0	1	0	0	0	7865	478	17	4	748	4	ISX	22	35481682	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	4744931	35481682	15822884	83	2911										
GUCY2F	2986	broad.mit.edu	37	chrX	108718895	108718895	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	14	0.344550140721541	2.08560311284047	2.27520339582596	1.87704280155642	0.733222421047541	1	0	gtattcaaaagaataactcaGgtcaaaagatgggtcccggt	10	7	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	96	44	---	---	---	---	C	108718895	G	C	108718895	3	2	60	1	0	0	0	0	1	0	0	0	6898	991	35	4	3127	4	GUCY2F	23	108718895	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		108718895	46551665	84	2912										
HIPK1	204851	broad.mit.edu	37	chr1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gcaagccaactcctctcaccAggtagcaaatttcaacatcc	5	15	2	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.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_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		Somatic				HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R	p.Q61R			WXS	Illumina GAIIx	Phase_I	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	15	227	---	---	---	---	G	114483187	A	G	114483187	3	3	61	1	0	0	0	0	1	0	0	0	7116	188	7	2	184	2	HIPK1	1	114483187	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		114483187	134767434	1	2913										
OR10Z1	128368	broad.mit.edu	37	chr1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	aatgctttcagagggagattGctgggtaaaggatgaaggtt	15	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.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		Somatic					p.L309F	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	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	11	241	---	---	---	---	T	158577155	G	T	158577155	3	4	61	1	0	0	0	0	1	0	0	0	10923	1310	46	3	929	3	OR10Z1	1	158577155	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	44093968	158577155	90673466	2	2914										
FAM5C	339479	broad.mit.edu	37	chr1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tgtcttacctttgtcttggcAggctgatgaggggttgttta	13	6	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.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)								c.(1171-1173)cTg>cCg		bone morphogenetic protein/retinoic acid inducible neural-specific 3							101	97	98					1																	190129810		2203	4300	6503	SO:0001583	missense	339479							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		Somatic				BRINP3_ENST00000534846.1_Missense_Mutation_p.L289P	p.L391P	NM_199051.1	NP_950252.1	WXS	Illumina GAIIx	Phase_I					7	1403	-			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	13	135	---	---	---	---	G	190129810	A	G	190129810	3	3	61	1	0	0	0	0	1	0	0	0	5594	188	7	2	1136	2	FAM5C	1	190129810	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	31552655	190129810	59120811	3	2915										
OR2B11	127623	broad.mit.edu	37	chr1	247614412	247614412	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tttctcagggtgtaggtgaaGggattgagagtgggggtgat	19	2	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.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			Somatic					p.P291P	NM_001004492.1	NP_001004492.1	WXS	Illumina GAIIx	Phase_I	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	6	423	---	---	---	---	T	247614412	G	T	247614412	2	4	61	1	0	0	0	0	0	0	0	1	10988	987	35	1		1	OR2B11	1	247614412	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	57484602	247614412	1636209	4	2916										
OR2T3	343173	broad.mit.edu	37	chr1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	catctcatccacaggatgaaTtctgccgccggccacaggaa	9	14	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		Somatic					p.N234K	NM_001005495.1	NP_001005495.1	WXS	Illumina GAIIx	Phase_I	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	13	143	---	---	---	---	A	248637353	T	A	248637353	3	1	61	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	5	2917										
NBAS	51594	broad.mit.edu	37	chr2	15378658	15378658	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tccaggtgggcaagtgatttCtccagatgattcaaagtatc	10	8	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.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			Somatic				NBAS_ENST00000441750.1_Silent_p.E1839E	p.E1959E	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	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	9	110	---	---	---	---	T	15378658	C	T	15378658	2	4	61	1	0	0	0	0	0	0	0	1	10186	912	32	2		2	NBAS	2	15378658	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		15378658	227820715	6	2918										
SLC35F5	80255	broad.mit.edu	37	chr2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cacaggcacatacagaggttCactctggaatgtaacagaaa	9	9	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.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		Somatic				SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	p.E162K	NM_025181.2	NP_079457.2	WXS	Illumina GAIIx	Phase_I	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	69	196	---	---	---	---	T	114501368	C	T	114501368	3	4	61	1	0	0	0	0	1	0	0	0	14592	835	29	2	1127	2	SLC35F5	2	114501368	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	99122710	114501368	128698005	7	2919										
TTN	7273	broad.mit.edu	37	chr2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tgtgctgctgctggcactgcCtgctgcattgtgggcctcac	13	13	1	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.chr2:179580256C>T	ENST00000591111.1	-	87	25158	c.24934G>A	c.(24934-24936)Ggc>Agc	p.G8312S	TTN_ENST00000589042.1_Missense_Mutation_p.G8629S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			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		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN_ENST00000460472.2_Intron	p.G8629S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	12	85	---	---	---	---	T	179580256	C	T	179580256	3	4	61	1	0	0	0	0	1	0	0	0	16732	681	24	2	78740	2	TTN	2	179580256	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	65078888	179580256	63619117	8	2920										
WDFY1	57590	broad.mit.edu	37	chr2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	agccccagcgtcttggtgtcCcacatctgctttatgttcca	8	14	2	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.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		Somatic					p.W302C	NM_020830.3	NP_065881.1	WXS	Illumina GAIIx	Phase_I	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	5	366	---	---	---	---	A	224749392	C	A	224749392	3	1	61	1	0	0	0	0	1	0	0	0	17265	624	22	1	342	1	WDFY1	2	224749392	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	45169136	224749392	18449981	9	2921										
RTP3	83597	broad.mit.edu	37	chr3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cctacgcatgccaaaaccacAtctgtaggaacttaagcatt	6	12	1	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.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		Somatic					p.I207V	NM_031440.1	NP_113628.1	WXS	Illumina GAIIx	Phase_I	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	34	151	---	---	---	---	G	46542309	A	G	46542309	3	3	61	1	0	0	0	0	1	0	0	0	13735	217	8	2	625	2	RTP3	3	46542309	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		46542309	151480121	10	2922										
PPP2R3A	5523	broad.mit.edu	37	chr3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	catcagccaggccgatctgtCtcgatacaatgaccagggta	10	12	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.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_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F	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		Somatic				PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000492624.2_3'UTR	p.S924F	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	WXS	Illumina GAIIx	Phase_I	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	12	166	---	---	---	---	T	135801246	C	T	135801246	3	4	61	1	0	0	0	0	1	0	0	0	12388	913	32	2	2933	2	PPP2R3A	3	135801246	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	89258937	135801246	62221184	11	2923										
HLTF	6596	broad.mit.edu	37	chr3	148760005	148760005	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	agaaggtaagtatggcaacaAatttgccgcagtctaagcaa	10	7	1	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.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I	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			Somatic				HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I|HLTF_ENST00000392912.2_Silent_p.I715I	p.I715I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	WXS	Illumina GAIIx	Phase_I	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	42	113	---	---	---	---	T	148760005	A	T	148760005	2	4	61	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	12	2924										
AADAC	13	broad.mit.edu	37	chr3	151545615	151545615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	aaatttgttaattggagttcCctgctccctgagaggtttat	9	7	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.chr3:151545615C>T	ENST00000232892.7	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_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)	ENST00000232892.7																			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			Somatic				RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.S285S	NM_001086.2	NP_001077.2	WXS	Illumina GAIIx	Phase_I	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)						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	9	200	---	---	---	---	T	151545615	C	T	151545615	2	4	61	1	0	0	0	0	0	0	0	1	10	610	22	2		2	AADAC	3	151545615	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	2785610	151545615	46476815	13	2925										
TBL1XR1	79718	broad.mit.edu	37	chr3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A													0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	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-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs			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)gttagtfs		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		Somatic				TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.S181fs	p.S181fs			WXS	Illumina GAIIx	Phase_I	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	61	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	14	2926										
FAT4	79633	broad.mit.edu	37	chr4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	caattcttctacaggtatatTaacactagccaaagctcttg	5	10	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.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*		Somatic				FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	p.L3146*	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	4	145	---	---	---	---	A	126371608	T	A	126371608	4	1	61	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	15	2927										
FAT4	79633	broad.mit.edu	37	chr4	126371768	126371768	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gtattcctctctgatgactaTttccctactgttttggaaaa	6	9	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.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			Somatic				FAT4_ENST00000335110.5_Silent_p.Y1497Y	p.Y3199Y	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	9	141	---	---	---	---	C	126371768	T	C	126371768	2	2	61	1	0	0	0	0	0	0	0	1	5692	1500	52	2		2	FAT4	4	126371768	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	160	126371768	64782508	16	2928										
FNIP2	57600	broad.mit.edu	37	chr4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	ggactgaaggagacattcccCgaaatgaaagctcagatagc	11	9	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.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*		Somatic				FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	p.R889*	NM_020840.1	NP_065891.1	WXS	Illumina GAIIx	Phase_I	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	3	27	---	---	---	---	T	159790453	C	T	159790453	4	4	61	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	17	2929										
FCHO2	115548	broad.mit.edu	37	chr5	72370579	72370579	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tatattctaggtgtgtcacgGggtcccagccctgtcagcct	11	12	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	T	72370579	G	T	72370579	2	4	61	1	0	0	0	0	0	0	0	1	5788	1219	43	1		1	FCHO2	5	72370579	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		72370579	108544681	18	2930										
CPEB4	80315	broad.mit.edu	37	chr5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G													0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	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_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000519835.1_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.(580-582)gggfs		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		Somatic				CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.G194fs|CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.G194fs	p.G194fs	NM_030627.2	NP_085130.2	WXS	Illumina GAIIx	Phase_I	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)	194					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	61	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	100946736	173317315	7597945	19	2931										
OR2V2	285659	broad.mit.edu	37	chr5	180582179	180582179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	atgttggtctgtaccaatgtGccaaagatggcagccaactt	10	9	1	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.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			Somatic					p.V79V	NM_206880.1	NP_996763.1	WXS	Illumina GAIIx	Phase_I	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	14	245	---	---	---	---	A	180582179	G	A	180582179	2	1	61	1	0	0	0	0	0	0	0	1	11031	1306	46	2		2	OR2V2	5	180582179	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	7264864	180582179	333081	20	2932										
CDC40	51362	broad.mit.edu	37	chr6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	taaaatttttagggatatccCtgtggatttcaagtacatag	8	5	1	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.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		Somatic				CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L|CDC40_ENST00000368930.1_Missense_Mutation_p.P450L	p.P450L			WXS	Illumina GAIIx	Phase_I	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	25	88	---	---	---	---	T	110547378	C	T	110547378	3	4	61	1	0	0	0	0	1	0	0	0	3070	681	24	2	1399	2	CDC40	6	110547378	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		110547378	60567689	21	2933										
TPST1	8460	broad.mit.edu	37	chr7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gggttgggaagataccgccaGatgttttacaagacatggca	13	7	0	3	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		Somatic				TPST1_ENST00000480281.1_3'UTR	p.D309N	NM_003596.3	NP_003587.1	WXS	Illumina GAIIx	Phase_I	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	9	106	---	---	---	---	A	65751577	G	A	65751577	3	1	61	1	0	0	0	0	1	0	0	0	16424	942	33	2	931	2	TPST1	7	65751577	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		65751577	93387086	22	2934										
PHTF2	57157	broad.mit.edu	37	chr7	77567152	77567152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	atcagtggaatgataatgaaCagagtgagtttttaaatttt	9	2	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.chr7:77567152C>T	ENST00000248550.7	+	12	1540	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000416283.2_Silent_p.N454N|PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000307305.8_Silent_p.N450N|PHTF2_ENST00000454592.1_3'UTR			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			Somatic				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|PHTF2_ENST00000422959.2_Silent_p.N454N	p.N454N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	WXS	Illumina GAIIx	Phase_I	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	6	55	---	---	---	---	T	77567152	C	T	77567152	2	4	61	1	0	0	0	0	0	0	0	1	11863	477	17	2		2	PHTF2	7	77567152	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	11815575	77567152	81571511	23	2935										
MKRN1	23608	broad.mit.edu	37	chr7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-													0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	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_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs	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)aacfs		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		Somatic				MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs|MKRN1_ENST00000437223.2_Intron	p.N227fs	NM_013446.3	NP_038474.2	WXS	Illumina GAIIx	Phase_I	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	61	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	24	2936										
ERMP1	79956	broad.mit.edu	37	chr9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gataccaaggaaaaccacaaAgaggtgcattctcctcacag	8	11	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.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'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		Somatic				ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R	p.L743R	NM_024896.2	NP_079172.2	WXS	Illumina GAIIx	Phase_I	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	5	72	---	---	---	---	C	5798848	A	C	5798848	3	2	61	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	25	2937										
GPR123	84435	broad.mit.edu	37	chr10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gctgcgcgccgccgccttcaCgctgttcctgttcacggcca	11	18	2	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.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		Somatic				GPR123_ENST00000392606.2_Missense_Mutation_p.T165M|GPR123_ENST00000392607.3_Missense_Mutation_p.T262M	p.T981M			WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	T	134942117	C	T	134942117	3	4	61	1	0	0	0	0	1	0	0	0	6637	536	19	2	807	2	GPR123	10	134942117	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		134942117	592630	26	2938										
OR51F1	256892	broad.mit.edu	37	chr11	4791052	4791052	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	atggcataaaaacaacagaaAggaatggagatccagacatg	10	6	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.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.P32P			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			Somatic				OR51F1_ENST00000343430.3_Silent_p.P32P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.P39P			WXS	Illumina GAIIx	Phase_I	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	11	41	---	---	---	---	T	4791052	A	T	4791052	2	4	61	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	27	2939										
SIK3	23387	broad.mit.edu	37	chr11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tggagagaaccccactcctgTtgaagggctgtagctgctgg	14	10	0	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_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.T910A|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron	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		Somatic				SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000488337.1_Intron	p.T910A			WXS	Illumina GAIIx	Phase_I	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	45	133	---	---	---	---	C	116729309	T	C	116729309	3	2	61	1	0	0	0	0	1	0	0	0	14319	1725	60	2	1253	2	SIK3	11	116729309	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	111938257	116729309	18277207	28	2940										
SIK3	23387	broad.mit.edu	37	chr11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cagcacgcgggcccgcagatTctgcagtgtgcttccatcaa	11	14	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.chr11:116767026T>C	ENST00000292055.4	-	6	669	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.N270D|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D	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		Somatic				SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D	p.N270D			WXS	Illumina GAIIx	Phase_I	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	6	116	---	---	---	---	C	116767026	T	C	116767026	3	2	61	1	0	0	0	0	1	0	0	0	14319	1783	62	2	3229	2	SIK3	11	116767026	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	37717	116767026	18239490	29	2941										
PTPN6	5777	broad.mit.edu	37	chr12	7061281	7061281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cagggtgtcctgcaggaccgCgacggcaccatcatccacct	11	16	1	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_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000456013.1_Silent_p.R89R|PTPN6_ENST00000447931.2_Silent_p.R50R	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			Somatic				PTPN6_ENST00000399448.1_Silent_p.R91R|PTPN6_ENST00000318974.9_Silent_p.R89R|PTPN6_ENST00000447931.2_Silent_p.R50R	p.R89R	NM_080549.3	NP_536859.1	WXS	Illumina GAIIx	Phase_I	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	12	132	---	---	---	---	T	7061281	C	T	7061281	2	4	61	1	0	0	0	0	0	0	0	1	12792	755	27	2		2	PTPN6	12	7061281	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		7061281	126790614	30	2942										
SLCO1C1	53919	broad.mit.edu	37	chr12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gctggttgtcaaacctccaaCaggagtggaaaaaatattgt	10	7	1	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.chr12:20890188C>A	ENST00000266509.2	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K	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		Somatic				SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K	p.N510K			WXS	Illumina GAIIx	Phase_I	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	14	100	---	---	---	---	A	20890188	C	A	20890188	3	1	61	1	0	0	0	0	1	0	0	0	14725	477	17	3	1568	3	SLCO1C1	12	20890188	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	13828907	20890188	112961707	31	2943										
AHNAK2	113146	broad.mit.edu	37	chr14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cagtggtcttaagatcccctTgcatggaggggaagctcccg	13	11	1	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.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		Somatic				AHNAK2_ENST00000557457.1_Intron	p.Q2853P	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	19	230	---	---	---	---	G	105413230	T	G	105413230	3	3	61	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	32	2944										
CAPN3	825	broad.mit.edu	37	chr15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gagatcagggatgctcctagTgacatgtacaagatcatgaa	11	7	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.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R	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		Somatic				CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R	p.S246R	NM_000070.2	NP_000061.1	WXS	Illumina GAIIx	Phase_I	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	17	194	---	---	---	---	G	42681231	T	G	42681231	3	3	61	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	33	2945										
SLC12A1	6557	broad.mit.edu	37	chr15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	ttaacacaagccagtcgatgCatgtgggagagttcaaccag	11	9	1	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.chr15:48580269C>T	ENST00000558405.1	+	21	2673	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000396577.3_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_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		Somatic				SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	p.H887Y	NM_001184832.1	NP_001171761.1	WXS	Illumina GAIIx	Phase_I	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	7	25	---	---	---	---	T	48580269	C	T	48580269	3	4	61	1	0	0	0	0	1	0	0	0	14382	710	25	2	2841	2	SLC12A1	15	48580269	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	5899038	48580269	53951123	34	2946										
GP2	2813	broad.mit.edu	37	chr16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tccagaaacagcagttgccaCtccaatgggcacaggcagtg	11	12	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.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		Somatic				GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000381360.5_Intron	p.S142I			WXS	Illumina GAIIx	Phase_I	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	3	83	---	---	---	---	A	20335248	C	A	20335248	3	1	61	1	0	0	0	0	1	0	0	0	6582	565	20	3	1228	3	GP2	16	20335248	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		20335248	70019505	35	2947										
TOM1L1	10040	broad.mit.edu	37	chr17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	tataaaacaggtcgggagatGcaggagaggatcatggacct	14	6	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.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|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		Somatic				TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I	p.M249I	NM_005486.2	NP_005477.2	WXS	Illumina GAIIx	Phase_I	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	29	111	---	---	---	---	T	53007460	G	T	53007460	3	4	61	1	0	0	0	0	1	0	0	0	16349	1319	46	3	777	3	TOM1L1	17	53007460	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		53007460	28187750	36	2948										
DSEL	92126	broad.mit.edu	37	chr18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	atgcccactgcggatatctgAcaccttccattcacaagcat	6	14	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.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_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		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.S919P	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	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	5	138	---	---	---	---	G	65179121	A	G	65179121	3	3	61	1	0	0	0	0	1	0	0	0	4775	275	10	2	917	2	DSEL	18	65179121	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		65179121	12898127	37	2949										
PRR22	163154	broad.mit.edu	37	chr19	5784048	5784048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gggtcgaagaagcacccgcaTggggccatctggaaacctgt	14	11	1	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.chr19:5784048T>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			Somatic				CTB-54O9.9_ENST00000586012.1_3'UTR	p.P70P	NM_001134316.1	NP_001127788.1	WXS	Illumina GAIIx	Phase_I	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	3	45	---	---	---	---	C	5784048	T	C	5784048	2	2	61	1	0	0	0	0	0	0	0	1	12593	1451	51	2		2	PRR22	19	5784048	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		5784048	53344935	38	2950										
ICAM1	3383	broad.mit.edu	37	chr19	10394818	10394818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	ttcccagtctcggaggcccaGgtccacctggcactggggga	14	14	1	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.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Silent_p.Q27Q|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank	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			Somatic				ICAM1_ENST00000423829.2_Silent_p.Q27Q|CTD-2369P2.5_ENST00000592893.1_RNA	p.Q249Q	NM_000201.2	NP_000192.2	WXS	Illumina GAIIx	Phase_I	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	4	55	---	---	---	---	A	10394818	G	A	10394818	2	1	61	1	0	0	0	0	0	0	0	1	7479	991	35	2		2	ICAM1	19	10394818	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	4610770	10394818	48734165	39	2951										
S1PR5	53637	broad.mit.edu	37	chr19	10625418	10625418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	cccgacagtaggatgttggcGgcgtaggcggcgcctgccag	17	12	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.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			Somatic				S1PR5_ENST00000333430.4_Silent_p.A90A	p.A90A	NM_001166215.1	NP_001159687.1	WXS	Illumina GAIIx	Phase_I	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	5	4	---	---	---	---	A	10625418	G	A	10625418	2	1	61	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	40	2952										
TSHZ3	57616	broad.mit.edu	37	chr19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gaggaagttgttgtacacggCcttcatctgctccaggctat	11	10	2	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.chr19:31770341C>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		Somatic					p.A120T	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	T	31770341	C	T	31770341	3	4	61	1	0	0	0	0	1	0	0	0	16622	739	26	2	2891	2	TSHZ3	19	31770341	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	21144923	31770341	27358642	41	2953										
FERMT1	55612	broad.mit.edu	37	chr20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	agaaagcgccgcttctatttCatcaacctcggactcgcctg	8	14	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.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K|FERMT1_ENST00000478194.1_5'Flank	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		Somatic				FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	p.E342K	NM_017671.4	NP_060141.3	WXS	Illumina GAIIx	Phase_I	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	8	393	---	---	---	---	T	6077614	C	T	6077614	3	4	61	1	0	0	0	0	1	0	0	0	5817	835	29	2	1041	2	FERMT1	20	6077614	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		6077614	56947906	42	2954										
RRBP1	6238	broad.mit.edu	37	chr20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	aatcgccacagggtcaccctTctgagtggcctagaaatacc	9	13	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.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*|RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|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*		Somatic				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*			WXS	Illumina GAIIx	Phase_I	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	10	192	---	---	---	---	A	17622555	T	A	17622555	4	1	61	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	43	2955										
L3MBTL	26013	broad.mit.edu	37	chr20	42161556	42161556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	gacaactgggatgatacttaTgactactggtagtaggaggg	14	5	0	2	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_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y|L3MBTL1_ENST00000373134.1_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			Somatic				L3MBTL1_ENST00000373134.1_Silent_p.Y386Y|L3MBTL1_ENST00000373135.3_Silent_p.Y386Y|L3MBTL1_ENST00000427442.2_Silent_p.Y454Y|L3MBTL1_ENST00000418998.1_Silent_p.Y454Y	p.Y386Y			WXS	Illumina GAIIx	Phase_I	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	7	77	---	---	---	---	C	42161556	T	C	42161556	2	2	61	1	0	0	0	0	0	0	0	1	8591	1471	51	2		2	L3MBTL	20	42161556	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	24539001	42161556	20863964	44	2956										
NCAM2	4685	broad.mit.edu	37	chr21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T													0.111111111111111	5	0.930579858446434	2.27199136535348	NA	2.27199136535348	0.00793650793650794	1	0	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_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs	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)gttfs		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		Somatic				NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.V160fs	p.V135fs	NM_004540.3	NP_004531.2	WXS	Illumina GAIIx	Phase_I	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	61	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	45	2957										
CCNL2	81669	broad.mit.edu	37	chr1	1333666	1333666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acattgatgacgtcccgtatGcgtcttggggcctcttctat	10	11	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.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	CCNL2_ENST00000408918.4_Silent_p.R140R|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'UTR	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			Somatic				CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Silent_p.R140R	p.R140R	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	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	51	195	---	---	---	---	A	1333666	G	A	1333666	2	1	62	1	0	0	0	0	0	0	0	1	2932	1306	46	2		2	CCNL2	1	1333666	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		1333666	247916955	1	2958										
ZBTB7B	51043	broad.mit.edu	37	chr1	154988948	154988948	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgcaaggacgatgcaccaccCcactacccaccaccctctac	5	21	1	0			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.chr1:154988948C>A	ENST00000368426.3	+	4	1544	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000535420.1_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	469					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)	p.P469P(1)		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)			ATGCACCACCCCACTACCCAC	0.652																																						ENST00000368426.3																			1	Substitution - coding silent(1)	p.P469P(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1405-1407)ccC>ccA		zinc finger and BTB domain containing 7B							106	82	90					1																	154988948		2203	4299	6502	SO:0001819	synonymous_variant	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.chr1:154988948C>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.1407C>A	1.37:g.154988948C>A			Somatic				ZBTB7B_ENST00000292176.2_Silent_p.P469P|ZBTB7B_ENST00000417934.2_Silent_p.P503P|ZBTB7B_ENST00000535420.1_Silent_p.P469P	p.P469P	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1544	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		469					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1407C>A	CCDS1081.1																																																																																				0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		3	56	3	56	---	---	---	---	A	154988948	C	A	154988948	2	1	62	1	0	0	0	0	0	0	0	1	17551	610	22	1		1	ZBTB7B	1	154988948	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	153655282	154988948	94261673	2	2959										
CEP170	9859	broad.mit.edu	37	chr1	243354360	243354360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	actggaacatcacttttaatGcttttagaatcctcttctgt	5	9	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.chr1:243354360G>T	ENST00000366542.1	-	8	1119	c.1068C>A	c.(1066-1068)agC>agA	p.S356R	CEP170_ENST00000366543.1_Missense_Mutation_p.S356R|CEP170_ENST00000366544.1_Missense_Mutation_p.S356R	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	356						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S356R(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)			CACTTTTAATGCTTTTAGAAT	0.378																																						ENST00000366542.1																			1	Substitution - Missense(1)	p.S356R(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.(1066-1068)agC>agA		centrosomal protein 170kDa							34	31	32					1																	243354360		1836	4081	5917	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243354360G>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.1068C>A	1.37:g.243354360G>T	ENSP00000355500:p.Ser356Arg		Somatic				CEP170_ENST00000366544.1_Missense_Mutation_p.S356R|CEP170_ENST00000366543.1_Missense_Mutation_p.S356R	p.S356R	NM_014812.2	NP_055627.2	WXS	Illumina GAIIx	Phase_I	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		8	1119	-	all_neural(11;0.101)	all_cancers(173;0.003)	356					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1068C>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.85|15.85	2.955096|2.955096	0.53293|0.53293	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	.|T;T;T	.|0.65549	.|-0.16;-0.07;-0.06	4.91|4.91	0.0258|0.0258	0.14147|0.14147	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.72191|0.72191	-0.4365|-0.4365	5|10	.|0.72032	.|D	.|0.01	-12.7442|-12.7442	9.8519|9.8519	0.41061|0.41061	0.6006:0.0:0.3994:0.0|0.6006:0.0:0.3994:0.0	.|.	.|356;356;356	.|Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;CE170_HUMAN	E|R	258|356;356;356;254	.|ENSP00000355500:S356R;ENSP00000355502:S356R;ENSP00000355501:S356R	.|ENSP00000355500:S356R	A|S	-|-	2|3	0|2	CEP170|CEP170	241420983|241420983	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	1.758000|1.758000	0.38410|0.38410	-0.023000|-0.023000	0.13963|0.13963	-0.391000|-0.391000	0.06502|0.06502	GCA|AGC		0.378	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	41	3	41	---	---	---	---	T	243354360	G	T	243354360	3	4	62	1	0	0	0	0	1	0	0	0	3250	1310	46	3	3768	3	CEP170	1	243354360	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	88365412	243354360	5896261	3	2960										
FIGN	55137	broad.mit.edu	37	chr2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagggctgaactgactccagCtttgctggcagtgataacat	12	9	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.chr2:164467945C>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		Somatic				FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.A133T	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	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	80	230	---	---	---	---	T	164467945	C	T	164467945	3	4	62	1	0	0	0	0	1	0	0	0	5891	797	28	2	1886	2	FIGN	2	164467945	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		164467945	78731428	4	2961										
LRRC2	79442	broad.mit.edu	37	chr3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaacacgtacttctccaagGcgctcttctcaagcctttcc	5	15	3	0			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|AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	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		Somatic				LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	p.A39V	NM_024512.4	NP_078788.2	WXS	Illumina GAIIx	Phase_I	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	4	164	---	---	---	---	A	46592966	G	A	46592966	3	1	62	1	0	0	0	0	1	0	0	0	8976	1203	42	2	1031	2	LRRC2	3	46592966	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		46592966	151429464	5	2962										
DOCK3	1795	broad.mit.edu	37	chr3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tcagccgccgaatttccagcGagccctgttccagcaagtgg	11	14	1	0			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		Somatic					p.R1810Q	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	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	6	220	---	---	---	---	A	51413195	G	A	51413195	3	1	62	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	6	2963										
OCIAD1	54940	broad.mit.edu	37	chr4	48851971	48851971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttacaaataagttgcttgTatcatgggatactttgctgg	9	5	1	0			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_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Silent_p.C56C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000425583.2_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			Somatic				OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C	p.C83C	NM_001079842.2	NP_001073311.2	WXS	Illumina GAIIx	Phase_I	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	39	128	---	---	---	---	C	48851971	T	C	48851971	2	2	62	1	0	0	0	0	0	0	0	1	10817	1644	57	2		2	OCIAD1	4	48851971	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08		48851971	142302305	7	2964										
PCDHGA4	56111	broad.mit.edu	37	chr5	140735373	140735373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctggaacgcgctctagatcgCgaggaagaggcggttcacca	14	11	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.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_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	56111							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			Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R202R	NM_018917.2	NP_061740	WXS	Illumina GAIIx	Phase_I			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	6	21	---	---	---	---	T	140735373	C	T	140735373	2	4	62	1	0	0	0	0	0	0	0	1	11556	755	27	2		2	PCDHGA4	5	140735373	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		140735373	40179887	8	2965										
CSMD1	64478	broad.mit.edu	37	chr8	2910129	2910129	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgaactcgttcccggtaaaTgaaccgtttcctggggattc	11	10	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.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000602557.1_Silent_p.S2506S|CSMD1_ENST00000537824.1_Silent_p.S2505S			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			Somatic				CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S	p.S2506S			WXS	Illumina GAIIx	Phase_I	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	7	27	---	---	---	---	A	2910129	T	A	2910129	2	1	62	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		2910129	143453893	9	2966										
ANK1	286	broad.mit.edu	37	chr8	41572581	41572581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttggccgccacgtgcagaggGgtaaatcctttctgaggaga	14	9	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.chr8:41572581G>A	ENST00000347528.4	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000396942.1_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000289734.7_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			Somatic				ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T	p.T538T			WXS	Illumina GAIIx	Phase_I	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	22	91	---	---	---	---	A	41572581	G	A	41572581	2	1	62	1	0	0	0	0	0	0	0	1	620	1219	43	2		2	ANK1	8	41572581	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	38662452	41572581	104791441	10	2967										
CELF2	10659	broad.mit.edu	37	chr10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctctctctaccacgagcagcGccctgggagccctcacgagt	10	17	3	0	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_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000354440.2_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_ENST00000542579.1_Missense_Mutation_p.A318T	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		Somatic				CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T	p.A311T	NM_001025077.2	NP_001020248.1	WXS	Illumina GAIIx	Phase_I	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	10	45	---	---	---	---	A	11330491	G	A	11330491	3	1	62	1	0	0	0	0	1	0	0	0	3216	1087	38	2	1043	2	CELF2	10	11330491	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		11330491	124204256	11	2968										
GHITM	27069	broad.mit.edu	37	chr10	85904774	85904774	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gatgagaggctcttgggtggTaagtcagctgtttttgtttt	14	4	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.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			Somatic						NM_014394.2	NP_055209.2	WXS	Illumina GAIIx	Phase_I	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	3	176	---	---	---	---	C	85904774	T	C	85904774	5	2	62	1	0	0	0	0	0	0	1	0	6370	1652	57	2	499	2	GHITM	10	85904774	Splice_Site	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	74574283	85904774	49629973	12	2969										
OR5L2	26338	broad.mit.edu	37	chr11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tactttttcctcagccacttGtcctttgtagatttctgcta	5	11	2	1	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)	Somatic					p.L66F	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	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	6	486	---	---	---	---	T	55594892	G	T	55594892	3	4	62	1	0	0	0	0	1	0	0	0	11171	1368	48	3	200	3	OR5L2	11	55594892	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		55594892	79411624	13	2970										
OR8J1	219477	broad.mit.edu	37	chr11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgatacttacttaccagaaaCagttgtctttatatctgcag	6	8	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.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		Somatic					p.T197I	NM_001005205.2	NP_001005205.2	WXS	Illumina GAIIx	Phase_I	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	50	140	---	---	---	---	T	56128312	C	T	56128312	3	4	62	1	0	0	0	0	1	0	0	0	11241	478	17	2	592	2	OR8J1	11	56128312	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	533420	56128312	78878204	14	2971										
DYRK2	8445	broad.mit.edu	37	chr12	68050894	68050894	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctgaattccagattggcggCagtaagcacacaatgaatga	10	8	1	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.chr12:68050894C>A	ENST00000344096.3	+	3	620	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_5'UTR	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	69					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.G69G(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AGATTGGCGGCAGTAAGCACA	0.473																																						ENST00000344096.3																			2	Substitution - coding silent(2)	p.G69G(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(205-207)ggC>ggA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							65	62	63					12																	68050894		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68050894C>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.207C>A	12.37:g.68050894C>A			Somatic				DYRK2_ENST00000393555.3_5'UTR	p.G69G	NM_006482.2	NP_006473.2	WXS	Illumina GAIIx	Phase_I	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	620	+			69					B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.207C>A	CCDS8978.1																																																																																				0.473	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			3	90	3	90	---	---	---	---	A	68050894	C	A	68050894	2	1	62	1	0	0	0	0	0	0	0	1	4856	697	25	3		3	DYRK2	12	68050894	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		68050894	65801001	15	2972										
UTP20	27340	broad.mit.edu	37	chr12	101764854	101764854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggcaattttatcaagaaagCtgttggtcccagaaatcgat	9	7	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.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			Somatic					p.L2236L	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	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	56	218	---	---	---	---	T	101764854	C	T	101764854	2	4	62	1	0	0	0	0	0	0	0	1	17096	796	28	2		2	UTP20	12	101764854	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	33713960	101764854	32087041	16	2973										
TNFAIP2	7127	broad.mit.edu	37	chr14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccagcacttctgcacccagCacgtaagccgctgcccacct	7	19	1	0			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_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N			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		Somatic				TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N	p.H567N			WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	A	103599852	C	A	103599852	3	1	62	1	0	0	0	0	1	0	0	0	16270	710	25	3	1733	3	TNFAIP2	14	103599852	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		103599852	3749688	17	2974										
SECISBP2L	9728	broad.mit.edu	37	chr15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtaatcaggtagctgggaaTtggagttggttccacaccag	13	7	1	0			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		Somatic				SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	p.I50F	NM_001193489.1	NP_001180418.1	WXS	Illumina GAIIx	Phase_I	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	34	82	---	---	---	---	A	49329843	T	A	49329843	3	1	62	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	18	2975										
ATP8B4	79895	broad.mit.edu	37	chr15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagtgaccctgcagcaaattAcagtcttacacatgcaagca	8	11	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.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		Somatic				ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	p.V785A	NM_024837.2	NP_079113.2	WXS	Illumina GAIIx	Phase_I	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	4	154	---	---	---	---	G	50190384	A	G	50190384	3	3	62	1	0	0	0	0	1	0	0	0	1197	391	14	2	1252	2	ATP8B4	15	50190384	Missense_Mutation	SNP	A	TCGA-EJ-5522-01A-01D-1576-08	860541	50190384	52341008	19	2976										
PIWIL3	440822	broad.mit.edu	37	chr22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacggacaaaaaattggtatCaaatttcaaatcccagagtt	7	7	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.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000533313.1_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		Somatic				PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	p.D461Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	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	46	137	---	---	---	---	A	25144942	C	A	25144942	3	1	62	1	0	0	0	0	1	0	0	0	11959	826	29	3	1307	3	PIWIL3	22	25144942	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		25144942	26159624	20	2977										
ASPHD2	57168	broad.mit.edu	37	chr22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaacaatgtttttgggaacGcgtgcatctctgtgctgagc	13	8	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.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		Somatic					p.A269T	NM_020437.4	NP_065170.2	WXS	Illumina GAIIx	Phase_I	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	51	206	---	---	---	---	A	26830386	G	A	26830386	3	1	62	1	0	0	0	0	1	0	0	0	1055	1087	38	2	807	2	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	1685444	26830386	24474180	21	2978										
CLCA2	9635	broad.mit.edu	37	chr1	86916415	86916415	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	gtaccaggttacacagcaaaCggtaagaaccattagcactg	9	10	0	1	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.(2152-2154)aaC>aaT		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			Somatic				CLCA2_ENST00000498802.1_3'UTR	p.N718N	NM_006536.5	NP_006527.1	WXS	Illumina GAIIx	Phase_I	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.2154C>T	CCDS708.1																																																																																				0.448	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	Silent	31	203	31	203	---	---	---	---	T	86916415	C	T	86916415	5	4	63	1	0	0	0	0	0	0	1	0	3458	550	19	2	2200	2	CLCA2	1	86916415	Splice_Site	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		86916415	162334206	1	2979										
SEMA6C	10500	broad.mit.edu	37	chr1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tgccccgacgtcggtgggcgCggcgacaagcacaggagacc	16	14	0	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.chr1:151105861C>T	ENST00000341697.3	-	19	3583	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			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		Somatic					p.R631H			WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	T	151105861	C	T	151105861	3	4	63	1	0	0	0	0	1	0	0	0	14041	768	27	2	904	2	SEMA6C	1	151105861	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	64189446	151105861	98144760	2	2980										
HMCN1	83872	broad.mit.edu	37	chr1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tctttcagggaagctgataaAaaagggatttggcctgcatg	12	6	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.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		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	p.K269T	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	24	389	---	---	---	---	C	185880818	A	C	185880818	3	2	63	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	3	2981										
CPS1	1373	broad.mit.edu	37	chr2	211421556	211421556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	caaaaatggaaattttcaagAcctggcatcaggctcctttc	7	10	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.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			Somatic				CPS1_ENST00000430249.2_Silent_p.R39R	p.R33R	NM_001875.4	NP_001866.2	WXS	Illumina GAIIx	Phase_I	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	13	235	---	---	---	---	G	211421556	A	G	211421556	2	3	63	1	0	0	0	0	0	0	0	1	3823	272	10	2		2	CPS1	2	211421556	Silent	SNP	A	TCGA-EJ-5524-01A-01D-1576-08		211421556	31777817	4	2982										
ABCA12	26154	broad.mit.edu	37	chr2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	atgttagaaaggcaaaatttGttaaaaacatttcttcctag	6	5	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.chr2:215914419G>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		Somatic					p.N208K	NM_173076.2	NP_775099.2	WXS	Illumina GAIIx	Phase_I	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	28	103	---	---	---	---	T	215914419	G	T	215914419	3	4	63	1	0	0	0	0	1	0	0	0	30	1368	48	3	7386	3	ABCA12	2	215914419	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	4492863	215914419	27284954	5	2983										
MICB	4277	broad.mit.edu	37	chr6	31477560	31477560	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	ccgtttccctcttctccagaGcttgtgagcctgcaggtcct	9	15	2	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.chr6:31477560G>T	ENST00000252229.6	+	6	1105	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	MICB_ENST00000538442.1_Splice_Site_p.E310D|MICB_ENST00000399150.3_Splice_Site_p.E299D	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.(1024-1026)gaG>gaT		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			Somatic				MICB_ENST00000538442.1_Splice_Site_p.E310D|MICB_ENST00000399150.3_Splice_Site_p.E299D	p.E342D	NM_005931.3	NP_005922.2	WXS	Illumina GAIIx	Phase_I	Q29980	MICB_HUMAN			6	1105	+			342						Splice_Site	SNP	ENST00000252229.6	37	c.1026G>T	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	30	136	---	---	---	---	T	31477560	G	T	31477560	5	4	63	1	0	0	0	0	0	0	1	0	9575	985	34	3	1048	3	MICB	6	31477560	Splice_Site	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		31477560	139637507	6	2984										
FAM83B	222584	broad.mit.edu	37	chr6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	atgtggaagctccaaatcttGacttaggctggccatatgtg	11	8	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.chr6:54735357G>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		Somatic					p.D105N	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	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	114	216	---	---	---	---	A	54735357	G	A	54735357	3	1	63	1	0	0	0	0	1	0	0	0	5634	1290	45	2	315	2	FAM83B	6	54735357	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	23257797	54735357	116379710	7	2985										
COL21A1	81578	broad.mit.edu	37	chr6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tcccctttcatcacgagctgCcactggaattcgtgttggac	9	13	2	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.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	81578				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		Somatic				COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	p.A224S	NM_030820.3	NP_110447.2	WXS	Illumina GAIIx	Phase_I	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	36	92	---	---	---	---	A	56035897	C	A	56035897	3	1	63	1	0	0	0	0	1	0	0	0	3680	739	26	3	2311	3	COL21A1	6	56035897	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	1300540	56035897	115079170	8	2986										
TTYH3	80727	broad.mit.edu	37	chr7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	cccgctgtgagaacaccccaCtcattgggcgcgagtccccg	11	17	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_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V	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		Somatic				TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V	p.L491V	NM_025250.2	NP_079526.1	WXS	Illumina GAIIx	Phase_I	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	16	175	---	---	---	---	G	2698620	C	G	2698620	3	3	63	1	0	0	0	0	1	0	0	0	16738	565	20	4	1521	4	TTYH3	7	2698620	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		2698620	156440043	9	2987										
MLL3	58508	broad.mit.edu	37	chr7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	aggcaccagcctgagtctcaTagacctccgtggaccacaga	10	14	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.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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C			WXS	Illumina GAIIx	Phase_I					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	70	195	---	---	---	---	C	151845693	T	C	151845693	3	2	63	1	0	0	0	0	1	0	0	0	9622	1406	49	2	1448	2	MLL3	7	151845693	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	149147073	151845693	7292970	10	2988										
C9orf100	84904	broad.mit.edu	37	chr9	35662634	35662635	+	Missense_Mutation	DNP	GC	GC	TT													0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	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.chr9:35662634_35662635GC>TT	ENST00000378387.3	-	7	894_895	c.777_778GC>AA	c.(775-780)aaGCct>aaAAct	p.P260T	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000343259.3_Intron|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)|p.K259K(1)									GGAGGCCGAGGCTTGGCCATGA	0.634																																						ENST00000378387.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.P260T(1)|p.K259K(1)	prostate(2)								c.(778-780)Cct>Act|c.(775-777)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 39																																				SO:0001583	missense	84904							g.chr9:35662634G>T|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.777_778delinsTT	9.37:g.35662634_35662635delinsTT	ENSP00000367638:p.Pro260Thr		Somatic				ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Silent_p.K223K|ARHGEF39_ENST00000490970.1_5'UTR	p.P260T|p.K259K	NM_032818.2	NP_116207.2	WXS	Illumina GAIIx	Phase_I					7	895|894	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation|Silent	SNP	ENST00000378387.3	37	c.778C>A|c.777G>A	CCDS6584.2																																																																																				0.634	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		21|20	23	20	23	---	---	---	---	TT	35662635	GC	TT	35662634	3	4	63	1	0	0	0	0	1	0	0	0	2444	1203	42	3	241	3	C9orf100	9	35662634	Missense_Mutation	DNP	GC	TCGA-EJ-5524-01A-01D-1576-08		35662634	105550797	11	2989										
ROR2	4920	broad.mit.edu	37	chr9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	ctcctcctctgcttcctgcaCggtgctctgggccccatctt	8	18	3	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.chr9:94486051C>T	ENST00000375708.3	-	9	2923	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	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		Somatic				ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.V909M	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	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	39	185	---	---	---	---	T	94486051	C	T	94486051	3	4	63	1	0	0	0	0	1	0	0	0	13527	536	19	2	110	2	ROR2	9	94486051	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	58823417	94486051	46727380	12	2990										
TTLL11	158135	broad.mit.edu	37	chr9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tcacgataaaagtgggcttcCaggaggggtcatcgtctttc	12	9	3	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.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		Somatic				TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L|TTLL11_ENST00000474723.1_5'UTR	p.W332L	NM_001139442.1	NP_001132914.1	WXS	Illumina GAIIx	Phase_I	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	66	240	---	---	---	---	A	124752018	C	A	124752018	3	1	63	1	0	0	0	0	1	0	0	0	16721	595	21	1	1509	1	TTLL11	9	124752018	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	30265967	124752018	16461413	13	2991										
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-													0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	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				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000372762.4_Splice_Site_p.G118fs|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.(409-411)gga>gg		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			Somatic				PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000494287.1_3'UTR	p.G137fs	NM_001145031.1	NP_001138503	WXS	Illumina GAIIx	Phase_I	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.411delA	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	63	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	14	2992										
MKI67	4288	broad.mit.edu	37	chr10	129900972	129900972	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	cttctcttcatgatgaccacGggttcggatgatttgcctct	9	11	3	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.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			Somatic				MKI67_ENST00000368653.3_Silent_p.P2684P	p.P3044P	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	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	10	296	---	---	---	---	C	129900972	G	C	129900972	2	2	63	1	0	0	0	0	0	0	0	1	9598	1103	39	4		4	MKI67	10	129900972	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	54227674	129900972	5633775	15	2993										
EED	8726	broad.mit.edu	37	chr11	85968564	85968564	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	aaatttattgtagcactatgTtggccatggaaatgctatca	8	6	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.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_ENST00000327320.4_Missense_Mutation_p.V187G|EED_ENST00000351625.6_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		Somatic				EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	p.V187G	NM_003797.3	NP_003788.2	WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	G	85968564	T	G	85968564	3	3	63	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		85968564	49037952	16	2994										
PKP2	5318	broad.mit.edu	37	chr12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	gccaaaacatccaatactttTgttgttgtcagtctggatat	7	8	2	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.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		Somatic				PKP2_ENST00000070846.6_Missense_Mutation_p.K643E	p.K599E	NM_001005242.2	NP_001005242.2	WXS	Illumina GAIIx	Phase_I	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	11	125	---	---	---	---	C	32975445	T	C	32975445	3	2	63	1	0	0	0	0	1	0	0	0	11985	1821	63	2	742	2	PKP2	12	32975445	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08		32975445	100876450	17	2995										
DNAH10	196385	broad.mit.edu	37	chr12	124395093	124395093	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	ttcacgttaggcctcttgaaGactcttaataccacaactga	6	11	3	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.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			Somatic					p.K3218K	NM_207437.3	NP_997320.2	WXS	Illumina GAIIx	Phase_I	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	12	219	---	---	---	---	A	124395093	G	A	124395093	2	1	63	1	0	0	0	0	0	0	0	1	4598	933	33	2		2	DNAH10	12	124395093	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	91419648	124395093	9456802	18	2996										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	GAATTGGTAG	-													0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	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_ENST00000563864.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000567348.1_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.(931-939)agaattggt>agt		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			Somatic				ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000563864.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000567348.1_Splice_Site_p.RIG311fs	p.RIG311fs	NM_014783.3	NP_055598.1	WXS	Illumina GAIIx	Phase_I	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.932_937delGAATTGGTAG	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	63	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	19	2997										
TYRO3	7301	broad.mit.edu	37	chr15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	gcgctccccaaaacctccatGccatccgcacagattcaggc	7	18	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.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		Somatic				TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	p.A331T	NM_006293.3	NP_006284.2	WXS	Illumina GAIIx	Phase_I	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	17	74	---	---	---	---	A	41860444	G	A	41860444	3	1	63	1	0	0	0	0	1	0	0	0	16811	1319	46	2	1021	2	TYRO3	15	41860444	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	8939446	41860444	60670948	20	2998										
SMAD3	4088	broad.mit.edu	37	chr15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	agcgctatggctggcacccgGccaccgtctgcaagatccca	11	16	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.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_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S	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		Somatic				SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S	p.A329S	NM_005902.3	NP_005893.1	WXS	Illumina GAIIx	Phase_I	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	7	36	---	---	---	---	T	67477178	G	T	67477178	3	4	63	1	0	0	0	0	1	0	0	0	14759	1203	42	3	1089	3	SMAD3	15	67477178	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	25616734	67477178	35054214	21	2999										
CHD2	1106	broad.mit.edu	37	chr15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	gctcaaatccttttaataaaGaagagctgacagctattttg	7	7	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.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		Somatic				CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	p.E966Q	NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	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	12	105	---	---	---	---	C	93524064	G	C	93524064	3	2	63	1	0	0	0	0	1	0	0	0	3325	943	33	4	2986	4	CHD2	15	93524064	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	26046886	93524064	9007328	22	3000										
SMARCE1	6605	broad.mit.edu	37	chr17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	ccacaactttaggtcagggtTggaagcctttacttggtccc	10	11	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.chr17:38792754T>C	ENST00000348513.6	-	6	1042	c.262A>G	c.(262-264)Aac>Gac	p.N88D	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D	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		Somatic				SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D	p.N88D	NM_003079.4	NP_003070.3	WXS	Illumina GAIIx	Phase_I	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	68	179	---	---	---	---	C	38792754	T	C	38792754	3	2	63	1	0	0	0	0	1	0	0	0	14780	1812	63	2	997	2	SMARCE1	17	38792754	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08		38792754	42402456	23	3001										
NAGS	162417	broad.mit.edu	37	chr17	42085837	42085837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tacttcaaacacagtgatggCagcttctccaacaagcagtg	8	11	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.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			Somatic					p.G491G	NM_153006.2	NP_694551.1	WXS	Illumina GAIIx	Phase_I	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	27	320	---	---	---	---	T	42085837	C	T	42085837	2	4	63	1	0	0	0	0	0	0	0	1	10145	697	25	2		2	NAGS	17	42085837	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	3293083	42085837	39109373	24	3002										
DDX42	11325	broad.mit.edu	37	chr17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	acagcagtcccacagtgcctTtggggcaaccagctcttctt	9	14	2	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.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_ENST00000457800.2_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_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		Somatic				DDX42_ENST00000457800.2_Missense_Mutation_p.F39S|DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron	p.F39S	NM_007372.2	NP_031398.2	WXS	Illumina GAIIx	Phase_I	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	15	222	---	---	---	---	C	61864525	T	C	61864525	3	2	63	1	0	0	0	0	1	0	0	0	4362	1841	64	2	118	2	DDX42	17	61864525	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	19778688	61864525	19330685	25	3003										
WDR7	23335	broad.mit.edu	37	chr18	54591238	54591238	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	cgaagaacagccattgatctGattggacgtgggttcactgt	12	8	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			Somatic				WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L1171L	p.L1204L	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	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	10	122	---	---	---	---	A	54591238	G	A	54591238	2	1	63	1	0	0	0	0	0	0	0	1	17317	1277	45	2		2	WDR7	18	54591238	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		54591238	23486010	26	3004										
MUC16	94025	broad.mit.edu	37	chr19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	tagatggagaagcattaaagGgggtgattatgtccactgga	14	4	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.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		Somatic					p.P10230H	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	10	94	---	---	---	---	T	9056757	G	T	9056757	3	4	63	1	0	0	0	0	1	0	0	0	9973	1232	43	1	13162	1	MUC16	19	9056757	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		9056757	50072226	27	3005										
GPR112	139378	broad.mit.edu	37	chrX	135431329	135431329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.142857142857143	4	0.853525798085268	2.74866310160428	2.51960784313725	2.83455882352941	0.485714285714286	1	0	atacccctgtttcataccctCcatggaccccatccagtgca	5	17	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.chrX:135431329C>A	ENST00000394143.1	+	6	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T	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		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T	p.P1822T	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	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	15	143	---	---	---	---	A	135431329	C	A	135431329	3	1	63	1	0	0	0	0	1	0	0	0	6629	855	30	3	5474	3	GPR112	23	135431329	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		135431329	19839231	28	3006										
ATG4C	84938	broad.mit.edu	37	chr1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	atcccagctgtacaataggaTtttactgtcgaaatgttcag	8	8	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.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		Somatic				ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	p.F386L	NM_032852.3	NP_116241.2	WXS	Illumina GAIIx	Phase_I	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	4	137	---	---	---	---	C	63307165	T	C	63307165	3	2	64	1	0	0	0	0	1	0	0	0	1098	1493	52	2	1190	2	ATG4C	1	63307165	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		63307165	185943456	1	3007										
DEPDC1	55635	broad.mit.edu	37	chr1	68947728	68947728	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cattgaaagcaacagccttaCtttgtgtgccagtcaacata	7	10	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.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	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			Somatic				RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron		NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	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	87	111	---	---	---	---	A	68947728	C	A	68947728	5	1	64	1	0	0	0	0	0	0	1	0	4439	579	20	3	692	3	DEPDC1	1	68947728	Splice_Site	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	5640563	68947728	180302893	2	3008										
TGFBR3	7049	broad.mit.edu	37	chr1	92185486	92185486	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tctacagccacgatcatcttCtcattgtcacatttgacaga	5	12	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.chr1:92185486C>T	ENST00000525962.1	-	8	1438	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000370399.2_Silent_p.E458E|TGFBR3_ENST00000212355.4_Silent_p.E459E			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			Somatic				TGFBR3_ENST00000525962.1_Silent_p.E459E|TGFBR3_ENST00000370399.2_Silent_p.E458E	p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	WXS	Illumina GAIIx	Phase_I	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	7	221	---	---	---	---	T	92185486	C	T	92185486	2	4	64	1	0	0	0	0	0	0	0	1	15820	912	32	2		2	TGFBR3	1	92185486	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23237758	92185486	157065135	3	3009										
REG4	83998	broad.mit.edu	37	chr1	120342381	120342381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tgcaggccaatccatatcggCtggcttctctgatagccact	9	13	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.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			Somatic				REG4_ENST00000530654.1_Silent_p.Q90Q|REG4_ENST00000256585.5_Silent_p.Q90Q	p.Q90Q	NM_001159352.1	NP_001152824.1	WXS	Illumina GAIIx	Phase_I	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	20	322	---	---	---	---	T	120342381	C	T	120342381	2	4	64	1	0	0	0	0	0	0	0	1	13214	796	28	2		2	REG4	1	120342381	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	28156895	120342381	128908240	4	3010										
PGLYRP3	114771	broad.mit.edu	37	chr1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cttactgatatccaatgtcaCaaaagttccgtgtgtccatg	7	10	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.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		Somatic					p.C238F	NM_052891.1	NP_443123.1	WXS	Illumina GAIIx	Phase_I	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	104	469	---	---	---	---	A	153274900	C	A	153274900	3	1	64	1	0	0	0	0	1	0	0	0	11795	478	17	3	324	3	PGLYRP3	1	153274900	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	32932519	153274900	95975721	5	3011										
PM20D1	148811	broad.mit.edu	37	chr1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	agagctaaaagtcactgttgGaatctggatggcacctgtca	11	8	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.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		Somatic				PM20D1_ENST00000460624.1_5'UTR	p.P62T	NM_152491.4	NP_689704.4	WXS	Illumina GAIIx	Phase_I	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	57	84	---	---	---	---	T	205817085	G	T	205817085	3	4	64	1	0	0	0	0	1	0	0	0	12128	1174	41	3	1372	3	PM20D1	1	205817085	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	52542185	205817085	43433536	6	3012										
CABC1	56997	broad.mit.edu	37	chr1	227153070	227153070	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aggacattgagaaggcccggCaggctaaggctcgccccgag	15	12	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.chr1:227153070C>T	ENST00000366779.1	+	8	3318	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000478406.1_Intron			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*		Somatic				ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Nonsense_Mutation_p.Q183*|ADCK3_ENST00000366778.1_Nonsense_Mutation_p.Q131*	p.Q183*			WXS	Illumina GAIIx	Phase_I	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	30	3	---	---	---	---	T	227153070	C	T	227153070	4	4	64	1	0	0	0	0	0	1	0	0	2527	711	25	2	553	2	CABC1	1	227153070	Nonsense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	21335985	227153070	22097551	7	3013										
IWS1	55677	broad.mit.edu	37	chr2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tttcagaatcactcattcgaGgtttgggaggctcctcattt	9	9	4	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.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA	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		Somatic				IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA	p.P206L	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	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	101	250	---	---	---	---	A	128262862	G	A	128262862	3	1	64	1	0	0	0	0	1	0	0	0	7931	1000	35	2	1890	2	IWS1	2	128262862	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		128262862	114936511	8	3014										
NR1D2	9975	broad.mit.edu	37	chr3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-													0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	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)tttfs		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		Somatic				NR1D2_ENST00000492552.1_3'UTR	p.F127fs	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	WXS	Illumina GAIIx	Phase_I	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	64	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	9	3015										
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ggcagcaacagtcttacctgGactctggaatccattctggt	10	11	3	0	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_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000405570.1_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		Somatic				CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H	p.D32H	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	19	31	---	---	---	---	C	41266097	G	C	41266097	3	2	64	1	0	0	0	0	1	0	0	0	4016	1174	41	4	100	4	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	17264929	41266097	156756333	10	3016										
NAAA	27163	broad.mit.edu	37	chr4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cccgatgacttgcgccatcgCggcgcgcaccaagtccaagt	11	16	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.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000505594.1_5'Flank	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		Somatic				NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P|NAAA_ENST00000507956.1_Missense_Mutation_p.A63P	p.A63P	NM_014435.3	NP_055250.2	WXS	Illumina GAIIx	Phase_I	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	14	53	---	---	---	---	G	76861916	C	G	76861916	3	3	64	1	0	0	0	0	1	0	0	0	10127	768	27	4	939	4	NAAA	4	76861916	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		76861916	114292360	11	3017										
MTTP	4547	broad.mit.edu	37	chr4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tggtgaaaggacttattctgCtaatagatcattctcaggta	9	6	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.chr4:100534280C>A	ENST00000265517.5	+	15	2403	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	MTTP_ENST00000457717.1_Missense_Mutation_p.L734I|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I|RP11-766F14.1_ENST00000508578.1_RNA			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		Somatic				MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I	p.L734I	NM_000253.2	NP_000244.2	WXS	Illumina GAIIx	Phase_I	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	39	34	---	---	---	---	A	100534280	C	A	100534280	3	1	64	1	0	0	0	0	1	0	0	0	9964	796	28	3	2258	3	MTTP	4	100534280	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23672364	100534280	90619996	12	3018										
TACR3	6870	broad.mit.edu	37	chr4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	catggactccattctggtcaCggtgtacatactgctttgcc	9	12	2	0	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_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_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		Somatic				RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.V403M	NM_001059.2	NP_001050.1	WXS	Illumina GAIIx	Phase_I	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	166	232	---	---	---	---	T	104511030	C	T	104511030	3	4	64	1	0	0	0	0	1	0	0	0	15504	536	19	2	194	2	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3976750	104511030	86643246	13	3019										
MEF2C	4208	broad.mit.edu	37	chr5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tgttcaagttaccaggtgagAccagcagacctggtgagttt	12	8	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.chr5:88027676A>G	ENST00000437473.2	-	7	1097	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000504921.2_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A	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)	Somatic				MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A	p.V227A			WXS	Illumina GAIIx	Phase_I	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	28	45	---	---	---	---	G	88027676	A	G	88027676	3	3	64	1	0	0	0	0	1	0	0	0	9457	275	10	2	761	2	MEF2C	5	88027676	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		88027676	92887584	14	3020										
AIM1	202	broad.mit.edu	37	chr6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aagtacatcacactccagttTgaaaagtccaagccacatgg	7	11	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.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*		Somatic					p.L916*	NM_001624.2	NP_001615	WXS	Illumina GAIIx	Phase_I	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	11	167	---	---	---	---	A	106969054	T	A	106969054	4	1	64	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	15	3021										
DCBLD1	285761	broad.mit.edu	37	chr6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ggatagtggcacaatgacatCtaagaattatcccgggacct	10	9	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.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron			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		Somatic				GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C|DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C	p.S55C			WXS	Illumina GAIIx	Phase_I	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	65	99	---	---	---	---	G	117824981	C	G	117824981	3	3	64	1	0	0	0	0	1	0	0	0	4280	913	32	4	170	4	DCBLD1	6	117824981	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	10855927	117824981	53290086	16	3022										
ENPP1	5167	broad.mit.edu	37	chr6	132195477	132195477	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aatgtattttcaaatatgcaAgtgagtaaacctattatact	5	5	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.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.(1633-1635)caA>caG		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			Somatic					p.Q545Q	NM_006208.2	NP_006199.2	WXS	Illumina GAIIx	Phase_I	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.1635A>G	CCDS5150.2																																																																																				0.279	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Silent	10	252	10	252	---	---	---	---	G	132195477	A	G	132195477	5	3	64	1	0	0	0	0	0	0	1	0	5129	86	3	2	1697	2	ENPP1	6	132195477	Splice_Site	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	14370496	132195477	38919590	17	3023										
OSBPL3	26031	broad.mit.edu	37	chr7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	gctgactcctcaccatccttTccagggggctgggaatctgc	11	14	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.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G	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		Somatic				OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G	p.E580G	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	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	66	116	---	---	---	---	C	24874112	T	C	24874112	3	2	64	1	0	0	0	0	1	0	0	0	11279	1783	62	2	960	2	OSBPL3	7	24874112	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		24874112	134264551	18	3024										
TNKS	8658	broad.mit.edu	37	chr8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	caacagataagtgggcgtttActcccctccatgaagcagcc	9	13	0	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.chr8:9605603A>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		Somatic				TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	p.T905S	NM_003747.2	NP_003738.2	WXS	Illumina GAIIx	Phase_I	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	63	36	---	---	---	---	T	9605603	A	T	9605603	3	4	64	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	19	3025										
PRSS55	203074	broad.mit.edu	37	chr8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aactagcccatccatggaaaTaaaggaggtcgccagcatca	9	11	1	0	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		Somatic				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T	p.I136T	NM_198464.3	NP_940866.2	WXS	Illumina GAIIx	Phase_I	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	169	63	---	---	---	---	C	10388864	T	C	10388864	3	2	64	1	0	0	0	0	1	0	0	0	12634	1406	49	2	417	2	PRSS55	8	10388864	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	783261	10388864	135975158	20	3026										
NEFM	4741	broad.mit.edu	37	chr8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aatcaccagtgaggggggagAtggtgctaccaaatacatca	12	8	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.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V			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		Somatic				NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000433454.2_Missense_Mutation_p.D491V	p.D867V			WXS	Illumina GAIIx	Phase_I	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	55	14	---	---	---	---	T	24775968	A	T	24775968	3	4	64	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	14387104	24775968	121588054	21	3027										
CYP7B1	9420	broad.mit.edu	37	chr8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tttgaagtgttttcatgaacCttaaggggtcttttcgtaag	10	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.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		Somatic					p.R68M	NM_004820.3	NP_004811.1	WXS	Illumina GAIIx	Phase_I	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	84	383	---	---	---	---	A	65537016	C	A	65537016	3	1	64	1	0	0	0	0	1	0	0	0	4197	681	24	1	1337	1	CYP7B1	8	65537016	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	40761048	65537016	80827006	22	3028										
CCNE2	9134	broad.mit.edu	37	chr8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ccacttcaatggaggtaaaaTggcacaaggcagcagcagtc	11	10	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.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P			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		Somatic				CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P	p.H303P			WXS	Illumina GAIIx	Phase_I	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	89	371	---	---	---	---	G	95895044	T	G	95895044	3	3	64	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	23	3029										
TRPS1	7227	broad.mit.edu	37	chr8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ggatgaactatttcctggatCtccagtactttcctgaggac	9	10	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.chr8:116426955C>T	ENST00000220888.5	-	6	3301	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	TRPS1_ENST00000395715.3_Missense_Mutation_p.D1061N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N			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		Somatic				TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N|TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N	p.D1061N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	WXS	Illumina GAIIx	Phase_I	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	8	519	---	---	---	---	T	116426955	C	T	116426955	3	4	64	1	0	0	0	0	1	0	0	0	16590	913	32	2	707	2	TRPS1	8	116426955	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	20531911	116426955	29937067	24	3030										
KHDRBS3	10656	broad.mit.edu	37	chr8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ccacgtggcaattctctgaaGcgtttacaagaagaaacctt	8	10	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.chr8:136554944G>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		Somatic				KHDRBS3_ENST00000520981.1_Intron	p.K85N	NM_006558.1	NP_006549.1	WXS	Illumina GAIIx	Phase_I	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	87	366	---	---	---	---	T	136554944	G	T	136554944	3	4	64	1	0	0	0	0	1	0	0	0	8148	962	34	3	265	3	KHDRBS3	8	136554944	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	20127989	136554944	9809078	25	3031										
TBC1D2	55357	broad.mit.edu	37	chr9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cctgttgctccaaggctgccActttctcctgggcagttcgg	11	14	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.chr9:100991289A>C	ENST00000375064.1	-	5	961	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000375066.5_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G|TBC1D2_ENST00000493589.2_5'UTR	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		Somatic				TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	p.V308G	NM_018421.3	NP_060891.3	WXS	Illumina GAIIx	Phase_I	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	61	88	---	---	---	---	C	100991289	A	C	100991289	3	2	64	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	26	3032										
COL27A1	85301	broad.mit.edu	37	chr9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cgcccgggtctgcagggaccTcatggactgtgagcagaaga	15	11	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	31	58	---	---	---	---	C	117068939	T	C	117068939	3	2	64	1	0	0	0	0	1	0	0	0	3685	1551	54	2	5308	2	COL27A1	9	117068939	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	16077650	117068939	24144492	27	3033										
CHAT	1103	broad.mit.edu	37	chr10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	gctccttcacggcggaggctAcagcaagaacggggccaatc	13	13	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.chr10:50854677A>T	ENST00000337653.2	+	8	1391	c.1238A>T	c.(1237-1239)tAc>tTc	p.Y413F	CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000395562.2_Missense_Mutation_p.Y331F|CHAT_ENST00000455728.2_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		Somatic				CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F	p.Y331F	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	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	33	48	---	---	---	---	T	50854677	A	T	50854677	3	4	64	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		50854677	84680070	28	3034										
GPR123	84435	broad.mit.edu	37	chr10	134942935	134942935	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	acgggctgcccaagggtaaaTtgctagaaggcctgccgttt	13	10	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.chr10:134942935T>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			Somatic				GPR123_ENST00000392607.3_Silent_p.L535L|GPR123_ENST00000392606.2_Silent_p.L438L	p.L1254L			WXS	Illumina GAIIx	Phase_I	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	16	18	---	---	---	---	C	134942935	T	C	134942935	2	2	64	1	0	0	0	0	0	0	0	1	6637	1490	52	2		2	GPR123	10	134942935	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	84088258	134942935	591812	29	3035										
GTF2H1	2965	broad.mit.edu	37	chr11	18362866	18362866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	acagagaaggaattctggacAcgttttttccagtcccatta	8	9	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.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000453096.2_Silent_p.T222T	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			Somatic				GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T|GTF2H1_ENST00000453096.2_Silent_p.T222T	p.T222T	NM_005316.3	NP_005307.1	WXS	Illumina GAIIx	Phase_I	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	53	99	---	---	---	---	G	18362866	A	G	18362866	2	3	64	1	0	0	0	0	0	0	0	1	6860	146	6	2		2	GTF2H1	11	18362866	Silent	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		18362866	116643650	30	3036										
OR9Q2	219957	broad.mit.edu	37	chr11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tgtgtttgctcttttcgtcaTgcctgcctgtatcttggtga	10	9	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.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		Somatic					p.M207R	NM_001005283.2	NP_001005283.1	WXS	Illumina GAIIx	Phase_I	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	57	95	---	---	---	---	G	57958582	T	G	57958582	3	3	64	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	31	3037										
FGFR1OP2	26127	broad.mit.edu	37	chr12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	agagttgcaacaagaaaacaAaggtaagatacgttactttt	8	5	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.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		Somatic				FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R	p.K84R	NM_015633.2	NP_056448.1	WXS	Illumina GAIIx	Phase_I	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	35	67	---	---	---	---	G	27109591	A	G	27109591	3	3	64	1	0	0	0	0	1	0	0	0	5865	14	1	2	257	2	FGFR1OP2	12	27109591	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		27109591	106742304	32	3038										
GLI1	2735	broad.mit.edu	37	chr12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tctgggatatgggggacctgAaggggcagcagctgagcctt	17	8	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.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		Somatic				GLI1_ENST00000543426.1_Missense_Mutation_p.E608V|GLI1_ENST00000546141.1_Missense_Mutation_p.E695V	p.E736V	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	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	69	129	---	---	---	---	T	57864730	A	T	57864730	3	4	64	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	30755139	57864730	75987165	33	3039										
CCDC41	51134	broad.mit.edu	37	chr12	94763729	94763729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ctttgaatcttattcctttcTctttctagctcactcttagc	3	12	5	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.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Silent_p.R339R	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			Somatic				CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R	p.R339R	NM_016122.2	NP_057206.2	WXS	Illumina GAIIx	Phase_I	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	5	411	---	---	---	---	C	94763729	T	C	94763729	2	2	64	1	0	0	0	0	0	0	0	1	2813	1548	54	2		2	CCDC41	12	94763729	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	36898999	94763729	39088166	34	3040										
RNF6	6049	broad.mit.edu	37	chr13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ttcatgcatgcaaggtaattGcctgagcttgtttccagtta	9	8	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.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_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron	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*		Somatic				RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron	p.Q647*	NM_005977.3	NP_005968.1	WXS	Illumina GAIIx	Phase_I	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	82	39	---	---	---	---	A	26788080	G	A	26788080	4	1	64	1	0	0	0	0	0	1	0	0	13498	1328	46	2	122	2	RNF6	13	26788080	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		26788080	88381798	35	3041										
MYCBP2	23077	broad.mit.edu	37	chr13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tcattattgacacggatcagCatattctcactgggtctgaa	8	9	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.chr13:77718680C>T	ENST00000544440.2	-	49	7106	c.7089G>A	c.(7087-7089)atG>atA	p.M2363I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	106	---	---	---	---	T	77718680	C	T	77718680	3	4	64	1	0	0	0	0	1	0	0	0	10018	710	25	2	6973	2	MYCBP2	13	77718680	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	50930600	77718680	37451198	36	3042										
PROZ	8858	broad.mit.edu	37	chr13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	gtggtgttataatacgggaaAattttgtactgacaacagca	10	5	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.chr13:113824784A>C	ENST00000375547.2	+	7	638	c.631A>C	c.(631-633)Aat>Cat	p.N211H	PROZ_ENST00000342783.4_Missense_Mutation_p.N233H|PROZ_ENST00000493630.1_3'UTR	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		Somatic				PROZ_ENST00000375547.2_Missense_Mutation_p.N211H|PROZ_ENST00000493630.1_3'UTR	p.N233H	NM_001256134.1	NP_001243063.1	WXS	Illumina GAIIx	Phase_I	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	5	70	---	---	---	---	C	113824784	A	C	113824784	3	2	64	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	37	3043										
KIAA1409	57578	broad.mit.edu	37	chr14	94004551	94004551	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aggagctggtctgcgccgtgGaagccgtgatcaggtaacac	15	10	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_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*			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*		Somatic				UNC79_ENST00000256339.4_Nonsense_Mutation_p.E270*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E447*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E447*	p.E447*			WXS	Illumina GAIIx	Phase_I	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	16	15	---	---	---	---	T	94004551	G	T	94004551	4	4	64	1	0	0	0	0	0	1	0	0	8230	1175	41	3	842	3	KIAA1409	14	94004551	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		94004551	13344989	38	3044										
TRPM1	4308	broad.mit.edu	37	chr15	31294406	31294406	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	tctgtgctatgagagcgcgtGatcttttgaacttggcattg	12	7	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.chr15:31294406G>A	ENST00000256552.6	-	28	4644	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|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			Somatic				RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000256552.6_Silent_p.I1499I	p.I1516I	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	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	12	452	---	---	---	---	A	31294406	G	A	31294406	2	1	64	1	0	0	0	0	0	0	0	1	16582	1280	45	2		2	TRPM1	15	31294406	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		31294406	71236986	39	3045										
MYO5C	55930	broad.mit.edu	37	chr15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	aggcagagattctggattgaCagaataatccagctcctatg	10	8	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.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_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		Somatic				MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	p.V52L	NM_018728.3	NP_061198.2	WXS	Illumina GAIIx	Phase_I	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	29	30	---	---	---	---	G	52571856	C	G	52571856	3	3	64	1	0	0	0	0	1	0	0	0	10080	478	17	4	5230	4	MYO5C	15	52571856	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	21277450	52571856	49959536	40	3046										
TP53	7157	broad.mit.edu	37	chr17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-													0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	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_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_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)gtgfs	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)	Somatic				TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs	p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	64	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	41	3047										
LRRC37B	114659	broad.mit.edu	37	chr17	30349140	30349140	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ccactgaatcatgaagtgacAgttcaacctccaggtgagga	10	10	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.chr17:30349140A>C	ENST00000341671.7	+	1	980	c.975A>C	c.(973-975)acA>acC	p.T325T	LRRC37B_ENST00000327564.7_Silent_p.T352T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T	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			Somatic				LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000584368.1_Silent_p.T337T|LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000341671.7_Silent_p.T325T	p.T352T			WXS	Illumina GAIIx	Phase_I	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	70	105	---	---	---	---	C	30349140	A	C	30349140	2	2	64	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	42	3048										
KRT25	147183	broad.mit.edu	37	chr17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	gatccataatctttagacttGtaacccccagacttacaggc	6	12	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.chr17:38905556G>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*		Somatic					p.Y399*	NM_181534.3	NP_853512.1	WXS	Illumina GAIIx	Phase_I	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	12	280	---	---	---	---	C	38905556	G	C	38905556	4	2	64	1	0	0	0	0	0	1	0	0	8462	1372	48	4	163	4	KRT25	17	38905556	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	8556416	38905556	42289654	43	3049										
SCN4A	6329	broad.mit.edu	37	chr17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cgctgcagccgggcctcctcCtccaccgcccgctgttctat	9	20	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.chr17:62050100C>G	ENST00000435607.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Missense_Mutation_p.E34D	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		Somatic				SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D	p.E34D			WXS	Illumina GAIIx	Phase_I	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	16	22	---	---	---	---	G	62050100	C	G	62050100	3	3	64	1	0	0	0	0	1	0	0	0	13920	680	24	4	5504	4	SCN4A	17	62050100	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23144544	62050100	19145110	44	3050										
SFRS2	6427	broad.mit.edu	37	chr17	74732433	74732456	+	In_Frame_Del	DEL	GACCGAGATCGAGAACGAGTGCGG	GACCGAGATCGAGAACGAGTGCGG	-													0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	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_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590514.1_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)tcccgcactcgttctcgatctcggtcg>tcg		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		Somatic				RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.139_147SRTRSRSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.151_159SRTRSRSRS>S|MFSD11_ENST00000588460.1_5'UTR	p.151_159SRTRSRSRS>S	NM_003016.4	NP_003007.2	WXS	Illumina GAIIx	Phase_I	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	64	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	45	3051										
SMAD4	4089	broad.mit.edu	37	chr18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ttatgcatactcaggatgagTtttgtgaaaggctggggacc	13	6	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.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000586253.1_3'UTR	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		Somatic				SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R|SMAD4_ENST00000586253.1_3'UTR	p.S504R	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	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	7	69	---	---	---	---	A	48604690	T	A	48604690	3	1	64	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	46	3052										
ABCA7	10347	broad.mit.edu	37	chr19	1058148	1058148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	ctcccacccttgagcagaagCtgcaggaggtgagccggatc	13	13	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.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			Somatic				ABCA7_ENST00000433129.1_Silent_p.L1677L|ABCA7_ENST00000435683.2_Silent_p.L1539L	p.L1677L	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	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	38	10	---	---	---	---	T	1058148	C	T	1058148	2	4	64	1	0	0	0	0	0	0	0	1	37	796	28	2		2	ABCA7	19	1058148	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		1058148	58070835	47	3053										
MAP1S	55201	broad.mit.edu	37	chr19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	accgtcccccttcgagctgcTggagcccccgacctccgggg	12	19	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.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|MAP1S_ENST00000597681.1_Intron|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		Somatic				MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q|MAP1S_ENST00000597681.1_Intron	p.L227Q	NM_018174.4	NP_060644.4	WXS	Illumina GAIIx	Phase_I	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	32	25	---	---	---	---	A	17836873	T	A	17836873	3	1	64	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	48	3054										
LILRA4	23547	broad.mit.edu	37	chr19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	15	12	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.chr19:54848198G>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		Somatic				AC008984.2_ENST00000507363.1_RNA	p.A390V	NM_012276.3	NP_036408.3	WXS	Illumina GAIIx	Phase_I	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	86	130	---	---	---	---	A	54848198	G	A	54848198	3	1	64	1	0	0	0	0	1	0	0	0	8787	1087	38	2	342	2	LILRA4	19	54848198	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	37011325	54848198	4280785	49	3055										
ZIK1	284307	broad.mit.edu	37	chr19	58101497	58101497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	caatcctgtgagatgtgtgtCccagtcctgaaagatatttt	9	8	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.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V93V|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			Somatic				ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000599456.1_Silent_p.V51V|ZIK1_ENST00000307468.4_3'UTR	p.V106V	NM_001010879.2	NP_001010879.2	WXS	Illumina GAIIx	Phase_I	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	50	81	---	---	---	---	T	58101497	C	T	58101497	2	4	64	1	0	0	0	0	0	0	0	1	17680	842	30	2		2	ZIK1	19	58101497	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3253299	58101497	1027486	50	3056										
MYH7B	57644	broad.mit.edu	37	chr20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cctccctgcacctccaggtgGtgtttgctgtgggggctctg	14	13	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.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		Somatic					p.V466L	NM_020884.3	NP_065935.2	WXS	Illumina GAIIx	Phase_I	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	6	171	---	---	---	---	T	33575571	G	T	33575571	3	4	64	1	0	0	0	0	1	0	0	0	10040	1261	44	3	1458	3	MYH7B	20	33575571	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		33575571	29449949	51	3057										
ITSN1	6453	broad.mit.edu	37	chr21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-													0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	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_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000379960.5_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)ttcfs		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		Somatic				ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs	p.F1050fs	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	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	64	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	52	3058										
TRAPPC10	7109	broad.mit.edu	37	chr21	45503102	45503102	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	gagatgccctcaggggtggcTctggaggagggtgcccacgt	18	10	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.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			Somatic					p.A719A	NM_003274.4	NP_003265.3	WXS	Illumina GAIIx	Phase_I	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	62	217	---	---	---	---	C	45503102	T	C	45503102	2	2	64	1	0	0	0	0	0	0	0	1	16454	1538	54	2		2	TRAPPC10	21	45503102	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	10307180	45503102	2626793	53	3059										
HDAC6	10013	broad.mit.edu	37	chrX	48673411	48673411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	4	1	1.51932278248068	1.2027972027972	1.66541151156536	0.485714285714286	1	0	cagggttcgcccagctaaccCacctgctcatgggtctggca	11	15	2	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.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		Somatic				HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y|HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y	p.H368Y			WXS	Illumina GAIIx	Phase_I	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	7	6	---	---	---	---	T	48673411	C	T	48673411	3	4	64	1	0	0	0	0	1	0	0	0	7011	594	21	2	1152	2	HDAC6	23	48673411	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		48673411	106597149	54	3060										
MTHFR	4524	broad.mit.edu	37	chr1	11855381	11855381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ctccagcttggacagcttcaCaagctgccgaagggagtggt	13	11	1	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.chr1:11855381C>T	ENST00000376592.1	-	5	933	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M|MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M			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		Somatic				MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M	p.V269M			WXS	Illumina GAIIx	Phase_I	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	19	44	---	---	---	---	T	11855381	C	T	11855381	3	4	65	1	0	0	0	0	1	0	0	0	9931	478	17	2	1193	2	MTHFR	1	11855381	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		11855381	237395240	1	3061										
PROX1	5629	broad.mit.edu	37	chr1	214171237	214171237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	tcctctgaccagtctgcctcCggccctgccgctggcggcca	11	19	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.chr1:214171237C>T	ENST00000366958.4	+	2	1967	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S|PROX1_ENST00000498508.2_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			Somatic				PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	p.S453S	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	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	27	85	---	---	---	---	T	214171237	C	T	214171237	2	4	65	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	3062										
LRRTM4	80059	broad.mit.edu	37	chr2	76975914	76975914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	cggcccagctccaggccgggGctttcgtcctgctctggaga	14	15	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.chr2:76975914G>A	ENST00000409093.1	-	4	2016	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	LRRTM4_ENST00000409911.1_Silent_p.S561S|LRRTM4_ENST00000409884.1_Silent_p.S560S			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			Somatic				LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S	p.S561S	NM_001134745.1|NM_001282924.1	NP_001128217.1|NP_001269853.1	WXS	Illumina GAIIx	Phase_I	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	54	165	---	---	---	---	A	76975914	G	A	76975914	2	1	65	1	0	0	0	0	0	0	0	1	9042	1194	42	2		2	LRRTM4	2	76975914	Silent	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		76975914	166223459	3	3063										
PTCD3	55037	broad.mit.edu	37	chr2	86360495	86360495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	tttccccactcccaaacaatGatacatcttctccaagcatt	2	15	2	1	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		Somatic					p.M493I	NM_017952.5	NP_060422.4	WXS	Illumina GAIIx	Phase_I	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	16	309	---	---	---	---	A	86360495	G	A	86360495	3	1	65	1	0	0	0	0	1	0	0	0	12729	1290	45	2	1553	2	PTCD3	2	86360495	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	9384581	86360495	156838878	4	3064										
EFHB	151651	broad.mit.edu	37	chr3	19924217	19924217	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	tggttggaacaccacaaatgGggtaacctaggtcattgatg	12	7	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.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		Somatic				EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	p.P718R	NM_144715.3	NP_653316.3	WXS	Illumina GAIIx	Phase_I	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	11	31	---	---	---	---	C	19924217	G	C	19924217	3	2	65	1	0	0	0	0	1	0	0	0	4945	1232	43	4	356	4	EFHB	3	19924217	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		19924217	178098213	5	3065										
BSN	8927	broad.mit.edu	37	chr3	49698154	49698154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	gcatgagtccaccaaactgcGcaagaagcaggcagagctgg	13	11	0	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.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		Somatic					p.R2959H	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	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	4	31	---	---	---	---	A	49698154	G	A	49698154	3	1	65	1	0	0	0	0	1	0	0	0	1530	1087	38	2	8898	2	BSN	3	49698154	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	29773937	49698154	148324276	6	3066										
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	6	0	0	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)	Somatic					p.C420R	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	5	205	---	---	---	---	C	178927980	T	C	178927980	3	2	65	1	0	0	0	0	1	0	0	0	11913	1580	55	2	1284	2	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-EJ-5526-01A-01D-1576-08	129229826	178927980	19094450	7	3067										
IL6ST	3572	broad.mit.edu	37	chr5	55250760	55250772	+	Frame_Shift_Del	DEL	CATTCCACCCAAA	CATTCCACCCAAA	-													0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	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_ENST00000381294.3_Intron|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381293.2_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)ctttgggtggaatggfs		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		Somatic				IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs	p.LWVEW439fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	WXS	Illumina GAIIx	Phase_I	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	65	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	8	3068										
RREB1	6239	broad.mit.edu	37	chr6	7230059	7230059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ccagccccacgcggccacgcGgctctccctgcagcagccgc	11	22	1	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_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379938.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	13	---	---	---	---	A	7230059	G	A	7230059	3	1	65	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	9	3069										
BAT2	7916	broad.mit.edu	37	chr6	31590596	31590598	+	In_Frame_Del	DEL	GGG	GGG	-													0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	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	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_In_Frame_Del_p.G11del|PRRC2A_ENST00000469577.1_Intron	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)aaggga>aaa		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		Somatic				PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.G11del	p.G11del	NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			2	264_266	+			11					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	65	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	10	3070										
URGCP	55665	broad.mit.edu	37	chr7	43918497	43918497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	gtctgaggagagcagcagggCacagagaaggtctaaggggt	18	6	2	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.chr7:43918497C>A	ENST00000453200.1	-	6	1058	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	URGCP_ENST00000336086.6_Missense_Mutation_p.A146S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.A146S			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		Somatic				URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000453200.1_Missense_Mutation_p.A189S	p.A146S			WXS	Illumina GAIIx	Phase_I	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	21	54	---	---	---	---	A	43918497	C	A	43918497	3	1	65	1	0	0	0	0	1	0	0	0	17023	710	25	3	2234	3	URGCP	7	43918497	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		43918497	115220166	11	3071										
PLEKHA2	59339	broad.mit.edu	37	chr8	38793568	38793569	+	Splice_Site	DEL	GG	GG	-													0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	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_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Splice_Site_p.K66fs			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.(196-198)aag>aa		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			Somatic				PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Splice_Site_p.K66fs	p.K66fs	NM_021623.1	NP_067636.1	WXS	Illumina GAIIx	Phase_I	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.198delGG																																																																																					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	65	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	12	3072										
LCN2	3934	broad.mit.edu	37	chr9	130914560	130914560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	acatcgtcttccctgtcccaAtcggtaatggccagtctgga	9	13	2	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.chr9:130914560A>G	ENST00000373017.1	+	6	811	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_ENST00000373013.2_Missense_Mutation_p.I194V|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000540948.1_Missense_Mutation_p.I192V			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		Somatic				LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR	p.I192V			WXS	Illumina GAIIx	Phase_I	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	23	48	---	---	---	---	G	130914560	A	G	130914560	3	3	65	1	0	0	0	0	1	0	0	0	8684	101	4	2	592	2	LCN2	9	130914560	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08		130914560	10298871	13	3073										
ACER3	55331	broad.mit.edu	37	chr11	76730798	76730798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	gtatacaagaacactttaccTgagatataggccaaaagtga	8	7	0	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.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_ENST00000544113.1_Missense_Mutation_p.L110R|ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R	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		Somatic				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	p.L243R	NM_018367.5	NP_060837.3	WXS	Illumina GAIIx	Phase_I	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	35	193	---	---	---	---	G	76730798	T	G	76730798	3	3	65	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		76730798	58275718	14	3074										
BANP	54971	broad.mit.edu	37	chr16	88061088	88061088	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	tccttggatgtgtccttccaGgtcaccttttctataaattt	6	10	2	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.chr16:88061088G>C	ENST00000393207.1	+	8	1092		c.e8-1		BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000355163.5_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			Somatic				BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site		NM_001173543.1	NP_001167014.1	WXS	Illumina GAIIx	Phase_I	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	10	111	---	---	---	---	C	88061088	G	C	88061088	5	2	65	1	0	0	0	0	0	0	1	0	1310	1014	35	4	939	4	BANP	16	88061088	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		88061088	2293665	15	3075										
CXCL16	400569	broad.mit.edu	37	chr17	4638741	4638741	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ctctgaggcctgagaaattgGggggctggtaggaagtaaat	16	5	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.chr17:4638741G>T	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000293778.6_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			Somatic				CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	p.P141T	NM_022059.2	NP_071342.2	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	T	4638741	G	T	4638741	1	4	65	0	1	0	0	0	0	0	0	0	4083	1232	43	1		1	CXCL16	17	4638741	IGR	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		4638741	76556469	16	3076										
PPP4R1	9989	broad.mit.edu	37	chr18	9547949	9547949	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ctggcagaggccaagaaataGtctggaaatgacatgtgcat	12	7	1	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.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.(2689-2691)gaC>gaG		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			Somatic				PPP4R1_ENST00000400555.3_Splice_Site_p.D880E	p.D897E	NM_001042388.2	NP_001035847.1	WXS	Illumina GAIIx	Phase_I	Q8TF05	PP4R1_HUMAN			20	2764	-			897					Q99774|Q9UNQ7	Splice_Site	SNP	ENST00000400556.3	37	c.2691C>G	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	24	41	---	---	---	---	C	9547949	G	C	9547949	5	2	65	1	0	0	0	0	0	0	1	0	12403	1043	36	4	165	4	PPP4R1	18	9547949	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		9547949	68529299	17	3077										
FAM38B	63895	broad.mit.edu	37	chr18	10671739	10671739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	gaattcacggacaaatttccCaatcacaaggacaactgaag	7	10	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.chr18:10671739C>T	ENST00000503781.3	-	52	8043	c.8044G>A	c.(8044-8046)Ggg>Agg	p.G2682R	PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2619R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R	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		Somatic				PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2682R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R	p.G2619R			WXS	Illumina GAIIx	Phase_I	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	42	132	---	---	---	---	T	10671739	C	T	10671739	3	4	65	1	0	0	0	0	1	0	0	0	5555	594	21	2	218	2	FAM38B	18	10671739	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	1123790	10671739	67405509	18	3078										
PLIN3	10226	broad.mit.edu	37	chr19	4847750	4847750	+	Frame_Shift_Del	DEL	G	G	-													0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	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_ENST00000592528.1_Frame_Shift_Del_p.Q251fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs	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)cagfs		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		Somatic				PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs	p.Q263fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	WXS	Illumina GAIIx	Phase_I	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	65	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	19	3079										
COMP	1311	broad.mit.edu	37	chr19	18898325	18898325	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ccgtcgatgtcgtcgtcgcaCgcatcgccccggccgtcctg	12	18	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_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000542601.2_Silent_p.A337A	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			Somatic				COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A	p.A337A			WXS	Illumina GAIIx	Phase_I	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	39	149	---	---	---	---	G	18898325	C	G	18898325	2	3	65	1	0	0	0	0	0	0	0	1	3724	523	19	4		4	COMP	19	18898325	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	14050575	18898325	40230658	20	3080										
SAMSN1	64092	broad.mit.edu	37	chr21	15884893	15884893	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	cattctctccatcttcctcaTccttcagaaaacatatcaga	2	14	5	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.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.(484-486)gAt>gTt		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			Somatic				SAMSN1_ENST00000400566.1_Splice_Site_p.D94V|SAMSN1_ENST00000400564.1_Intron	p.D162V	NM_001256370.1	NP_001243299.1	WXS	Illumina GAIIx	Phase_I	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.485A>T	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	55	146	---	---	---	---	A	15884893	T	A	15884893	5	1	65	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	21	3081										
FAM47B	170062	broad.mit.edu	37	chrX	34961794	34961794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	cctgatactggagcgtcccaTctctgcccggagcctcccga	10	17	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			Somatic					p.H282H	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	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	32	25	---	---	---	---	C	34961794	T	C	34961794	2	2	65	1	0	0	0	0	0	0	0	1	5570	1432	50	2		2	FAM47B	23	34961794	Silent	SNP	T	TCGA-EJ-5526-01A-01D-1576-08		34961794	120308766	22	3082										
XK	7504	broad.mit.edu	37	chrX	37553558	37553558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.729020979020979	0	1.1456043956044	1	1	0	ggtgttttgaagtcttctgcAtctactttcagtcaggcaac	9	9	5	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: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		Somatic				TM4SF2_ENST00000465127.1_Intron	p.I89V	NM_021083.2	NP_066569.1	WXS	Illumina GAIIx	Phase_I	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	19	26	---	---	---	---	G	37553558	A	G	37553558	3	3	65	1	0	0	0	0	1	0	0	0	17428	217	8	2	271	2	XK	23	37553558	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08	2591764	37553558	117717002	23	3083										
MIIP	60672	broad.mit.edu	37	chr1	12082418	12082418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctgagggacccagagccCtcagggaggctgggtgatcc	16	12	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.chr1:12082418C>A	ENST00000235332.4	+	3	550	c.381C>A	c.(379-381)ccC>ccA	p.P127P	Y_RNA_ENST00000365591.1_RNA|MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.P127P	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	127										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						ACCCAGAGCCCTCAGGGAGGC	0.657																																						ENST00000235332.4																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(379-381)ccC>ccA		migration and invasion inhibitory protein							26	27	27					1																	12082418		2203	4300	6503	SO:0001819	synonymous_variant	60672							g.chr1:12082418C>A	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.381C>A	1.37:g.12082418C>A			Somatic				MIIP_ENST00000436478.2_Silent_p.P127P|MIIP_ENST00000466860.1_3'UTR	p.P127P	NM_021933.3	NP_068752.2	WXS	Illumina GAIIx	Phase_I	Q5JXC2	MIIP_HUMAN			3	550	+			127					C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	c.381C>A	CCDS143.1																																																																																				0.657	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		4	72	4	72	---	---	---	---	A	12082418	C	A	12082418	2	1	66	1	0	0	0	0	0	0	0	1	9585	668	24	1		1	MIIP	1	12082418	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		12082418	237168203	1	3084										
VPS13D	55187	broad.mit.edu	37	chr1	12422900	12422900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacagagggaatttgccagGggacaggtgagcagtttgct	16	7	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.chr1:12422900G>T	ENST00000358136.3	+	51	10396	c.10266G>T	c.(10264-10266)agG>agT	p.R3422S	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	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)		AATTTGCCAGGGGACAGGTGA	0.433																																						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.(10264-10266)agG>agT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							167	162	164					1																	12422900		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12422900G>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.10266G>T	1.37:g.12422900G>T	ENSP00000350854:p.Arg3422Ser		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.R3397S	p.R3422S	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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)	51	10396	+	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)	3421						Missense_Mutation	SNP	ENST00000358136.3	37	c.10266G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614673|1.614673	0.28712|0.28712	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.31247	.|1.5;1.5	5.7|5.7	1.78|1.78	0.24846|0.24846	.|Vacuolar protein sorting-associated protein (1);	.|0.084406	.|0.85682	.|D	.|0.000000	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20261	.|0.043;0.003	.|B;B	.|0.26770	.|0.073;0.007	T|T	0.11767|0.11767	-1.0574|-1.0574	5|10	.|0.08381	.|T	.|0.77	.|.	4.2497|4.2497	0.10689|0.10689	0.4195:0.0:0.4306:0.1499|0.4195:0.0:0.4306:0.1499	.|.	.|3397;3421	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|S	2244|3397;3422	.|ENSP00000348666:R3397S;ENSP00000350854:R3422S	.|ENSP00000348666:R3397S	G|R	+|+	2|3	0|2	VPS13D|VPS13D	12345487|12345487	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	2.706000|2.706000	0.47135|0.47135	0.077000|0.077000	0.16863|0.16863	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		9	433	9	433	---	---	---	---	T	12422900	G	T	12422900	3	4	66	1	0	0	0	0	1	0	0	0	17189	1223	43	1	10464	1	VPS13D	1	12422900	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	340482	12422900	236827721	2	3085										
PADI3	51702	broad.mit.edu	37	chr1	17609504	17609504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccataccacatgctgcatgGggaggtgcactgtggcacca	12	12	0	0			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.chr1:17609504G>T	ENST00000375460.3	+	16	1965	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	642					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)	ATGCTGCATGGGGAGGTGCAC	0.597																																						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.(1924-1926)gGg>gTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						115	96	103					1																	17609504		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17609504G>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.1925G>T	1.37:g.17609504G>T	ENSP00000364609:p.Gly642Val		Somatic					p.G642V	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	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)	16	1965	+		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)	642					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1925G>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.499760	0.85176	.	.	ENSG00000142619	ENST00000375460	T	0.61980	0.06	5.0	5.0	0.66597	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88915	0.3362	10	0.87932	D	0	-38.4746	16.8878	0.86080	0.0:0.0:1.0:0.0	.	642	Q9ULW8	PADI3_HUMAN	V	642	ENSP00000364609:G642V	ENSP00000364609:G642V	G	+	2	0	PADI3	17482091	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.566000	0.98157	2.317000	0.78254	0.561000	0.74099	GGG		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			4	138	4	138	---	---	---	---	T	17609504	G	T	17609504	3	4	66	1	0	0	0	0	1	0	0	0	11379	1232	43	1	1987	1	PADI3	1	17609504	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	5186604	17609504	231641117	3	3086										
CAPZB	832	broad.mit.edu	37	chr1	19712116	19712116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagatcctcacatagactgGggacctggcagagagaaagg	15	8	1	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.chr1:19712116G>T	ENST00000375142.1	-	3	144	c.98C>A	c.(97-99)cCc>cAc	p.P33H	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H|CAPZB_ENST00000264203.3_Missense_Mutation_p.P59H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	33					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)		ACATAGACTGGGGACCTGGCA	0.473																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(175-177)cCc>cAc		capping protein (actin filament) muscle Z-line, beta							66	68	67					1																	19712116		1977	4150	6127	SO:0001583	missense	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712116G>T	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.98C>A	1.37:g.19712116G>T	ENSP00000364284:p.Pro33His		Somatic				CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Missense_Mutation_p.P21H|CAPZB_ENST00000264202.6_Missense_Mutation_p.P33H|CAPZB_ENST00000401084.2_Missense_Mutation_p.P33H|CAPZB_ENST00000375142.1_Missense_Mutation_p.P33H|CAPZB_ENST00000433834.1_Missense_Mutation_p.P62H	p.P59H	NM_001206541.2	NP_001193470.1	WXS	Illumina GAIIx	Phase_I	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)	4	669	-		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)	33					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.176C>A	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634221	0.87660	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711;ENST00000457768	.	.	.	5.83	5.83	0.93111	.	0.099126	0.64402	D	0.000001	D	0.89763	0.6809	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	D	0.92360	0.5896	9	0.87932	D	0	-16.8671	18.6875	0.91570	0.0:0.0:1.0:0.0	.	62;59;33;21	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	H	33;59;21;33;62;95;33;21;5	.	ENSP00000264202:P33H	P	-	2	0	CAPZB	19584703	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.971000	0.93419	2.759000	0.94783	0.561000	0.74099	CCC		0.473	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			4	87	4	87	---	---	---	---	T	19712116	G	T	19712116	3	4	66	1	0	0	0	0	1	0	0	0	2643	1232	43	1	748	1	CAPZB	1	19712116	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	2102612	19712116	229538505	4	3087										
PLA2G2A	5320	broad.mit.edu	37	chr1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttcctttcctgtcgtcaaCttgatcattctgtggaaatt	7	10	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	61	---	---	---	---	G	20304968	C	G	20304968	3	3	66	1	0	0	0	0	1	0	0	0	11995	564	20	4	356	4	PLA2G2A	1	20304968	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	592852	20304968	228945653	5	3088										
FGR	2268	broad.mit.edu	37	chr1	27942065	27942065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcctccaggaaggccttcgGggacatggtgcccggcttca	13	14	1	0			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.chr1:27942065G>T	ENST00000374005.3	-	9	1186	c.898C>A	c.(898-900)Ccg>Acg	p.P300T	FGR_ENST00000399173.1_Missense_Mutation_p.P300T|FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	300	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)		AAGGCCTTCGGGGACATGGTG	0.647																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(898-900)Ccg>Acg		feline Gardner-Rasheed sarcoma viral oncogene homolog							74	61	65					1																	27942065		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27942065G>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.898C>A	1.37:g.27942065G>T	ENSP00000363117:p.Pro300Thr		Somatic				FGR_ENST00000545953.1_Missense_Mutation_p.P234T|FGR_ENST00000374004.1_Missense_Mutation_p.P300T|FGR_ENST00000399173.1_Missense_Mutation_p.P300T	p.P300T	NM_005248.2	NP_005239.1	WXS	Illumina GAIIx	Phase_I	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)	9	1186	-		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)	300			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.898C>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788779	0.70337	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.03	4.06	0.47325	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	T	0.79718	0.4494	N	0.20574	0.59	0.45662	D	0.998588	P	0.43909	0.821	P	0.50590	0.645	T	0.81573	-0.0871	10	0.51188	T	0.08	.	14.9062	0.70721	0.0:0.1435:0.8565:0.0	.	300	P09769	FGR_HUMAN	T	300;234;300;300;300;300	ENSP00000363117:P300T;ENSP00000445302:P234T;ENSP00000382126:P300T;ENSP00000363116:P300T;ENSP00000363115:P300T;ENSP00000407670:P300T	ENSP00000363115:P300T	P	-	1	0	FGR	27814652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.705000	0.84606	2.508000	0.84585	0.491000	0.48974	CCG		0.647	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		5	95	5	95	---	---	---	---	T	27942065	G	T	27942065	3	4	66	1	0	0	0	0	1	0	0	0	5874	1232	43	1	711	1	FGR	1	27942065	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	7637097	27942065	221308556	6	3089										
TRIM62	55223	broad.mit.edu	37	chr1	33612958	33612958	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatagtccaggaagacaccCaccttgtcaagcttgtcccg	8	14	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.chr1:33612958C>A	ENST00000291416.5	-	5	1481	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	TRIM62_ENST00000543586.1_Silent_p.V295V	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	416	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)				GGAAGACACCCACCTTGTCAA	0.572																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1246-1248)gtG>gtT		tripartite motif containing 62							115	105	109					1																	33612958		2203	4300	6503	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33612958C>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.1248G>T	1.37:g.33612958C>A			Somatic				TRIM62_ENST00000543586.1_Silent_p.V295V	p.V416V	NM_018207.2	NP_060677.2	WXS	Illumina GAIIx	Phase_I	Q9BVG3	TRI62_HUMAN			5	1481	-		Myeloproliferative disorder(586;0.0393)	416			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.1248G>T	CCDS376.1																																																																																				0.572	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		5	118	5	118	---	---	---	---	A	33612958	C	A	33612958	2	1	66	1	0	0	0	0	0	0	0	1	16534	581	21	1		1	TRIM62	1	33612958	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5670893	33612958	215637663	7	3090										
SPATA6	54558	broad.mit.edu	37	chr1	48865161	48865161	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagggagatggagagtgtgaTtttgaagaaattgtaggctg	16	1	0	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_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Silent_p.K214K	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			Somatic				SPATA6_ENST00000371843.3_Silent_p.K214K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.K142K	p.K214K	NM_019073.2	NP_061946.1	WXS	Illumina GAIIx	Phase_I	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	9	505	---	---	---	---	C	48865161	T	C	48865161	2	2	66	1	0	0	0	0	0	0	0	1	15012	1490	52	2		2	SPATA6	1	48865161	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	15252203	48865161	200385460	8	3091										
GTF2B	2959	broad.mit.edu	37	chr1	89325644	89325644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atagcatcattagctcttccCttcaggctcttctgttcata	5	12	6	0			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.chr1:89325644C>A	ENST00000370500.5	-	5	574	c.456G>T	c.(454-456)aaG>aaT	p.K152N	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	152					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)		TAGCTCTTCCCTTCAGGCTCT	0.358																																						ENST00000370500.5																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(454-456)aaG>aaT		general transcription factor IIB							163	167	166					1																	89325644		2203	4300	6503	SO:0001583	missense	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.chr1:89325644C>A	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.456G>T	1.37:g.89325644C>A	ENSP00000359531:p.Lys152Asn		Somatic				GTF2B_ENST00000494819.1_5'UTR	p.K152N	NM_001514.5	NP_001505.1	WXS	Illumina GAIIx	Phase_I	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	5	574	-		Lung NSC(277;0.123)	152					A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	c.456G>T	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960183	0.74016	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	T;T;T	0.51817	0.69;0.73;0.71	5.67	4.76	0.60689	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.87682	2.9	0.80722	D	1	P	0.48162	0.906	D	0.64687	0.928	T	0.69917	-0.5015	10	0.87932	D	0	-25.7243	10.9138	0.47124	0.0:0.8567:0.0:0.1433	.	152	Q00403	TF2B_HUMAN	N	152;151;147	ENSP00000359531:K152N;ENSP00000415741:K151N;ENSP00000402345:K147N	ENSP00000359531:K152N	K	-	3	2	GTF2B	89098232	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.462000	0.45049	1.531000	0.49152	0.591000	0.81541	AAG		0.358	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		6	367	6	367	---	---	---	---	A	89325644	C	A	89325644	3	1	66	1	0	0	0	0	1	0	0	0	6855	680	24	1	506	1	GTF2B	1	89325644	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	40460483	89325644	159924977	9	3092										
ABCA4	24	broad.mit.edu	37	chr1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtgggttcgtccagaatcAccaccttggcatctcccaca	9	14	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.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		Somatic					p.V1083A	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	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	9	144	---	---	---	---	G	94508397	A	G	94508397	3	3	66	1	0	0	0	0	1	0	0	0	34	159	6	2	3689	2	ABCA4	1	94508397	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	5182753	94508397	154742224	10	3093										
COL11A1	1301	broad.mit.edu	37	chr1	103385906	103385906	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgaaccaacagaccctggGggtccttgtggtccctgcag	12	13	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.chr1:103385906G>T	ENST00000370096.3	-	49	4035	c.3723C>A	c.(3721-3723)ccC>ccA	p.P1241P	COL11A1_ENST00000358392.2_Silent_p.P1253P|COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000353414.4_Silent_p.P1202P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1241	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)		CAGACCCTGGGGGTCCTTGTG	0.353																																						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.(3757-3759)ccC>ccA		collagen, type XI, alpha 1							142	153	149					1																	103385906		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.chr1:103385906G>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.3723C>A	1.37:g.103385906G>T			Somatic				COL11A1_ENST00000512756.1_Silent_p.P1125P|COL11A1_ENST00000370096.3_Silent_p.P1241P|COL11A1_ENST00000353414.4_Silent_p.P1202P	p.P1253P	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	49	4076	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1241			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3759C>A	CCDS778.1																																																																																				0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	405	7	405	---	---	---	---	T	103385906	G	T	103385906	2	4	66	1	0	0	0	0	0	0	0	1	3667	1219	43	1		1	COL11A1	1	103385906	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	8877509	103385906	145864715	11	3094										
HIPK1	204851	broad.mit.edu	37	chr1	114510461	114510461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgactaaccatgtgacaTtggccactgctcagcctctg	9	13	2	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_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000406344.1_Silent_p.L425L			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			Somatic				HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000426820.2_Silent_p.L819L	p.L819L			WXS	Illumina GAIIx	Phase_I	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	7	210	---	---	---	---	C	114510461	T	C	114510461	2	2	66	1	0	0	0	0	0	0	0	1	7116	1490	52	2		2	HIPK1	1	114510461	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	11124555	114510461	134740160	12	3095										
THBS3	7059	broad.mit.edu	37	chr1	155174919	155174919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacctccgctggaggaatggGggccagtgctggaaggcctg	18	10	0	0			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.chr1:155174919G>T	ENST00000368378.3	-	3	495	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Intron|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	159	Laminin G-like.				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)			GGAGGAATGGGGGCCAGTGCT	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.(475-477)Ccc>Acc		thrombospondin 3							64	59	60					1																	155174919		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.chr1:155174919G>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.475C>A	1.37:g.155174919G>T	ENSP00000357362:p.Pro159Thr		Somatic				THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA	p.P159T	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	WXS	Illumina GAIIx	Phase_I	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)		3	495	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		159			TSP N-terminal.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.475C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709941	0.48517	.	.	ENSG00000169231	ENST00000368378	T	0.80123	-1.34	5.56	4.65	0.58169	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339607	0.30940	N	0.008565	T	0.36496	0.0969	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.003;0.003	T	0.37502	-0.9703	10	0.14656	T	0.56	-19.8793	7.487	0.27439	0.0845:0.0:0.7507:0.1648	.	159;159;159	Q53FK6;Q2HIZ0;P49746	.;.;TSP3_HUMAN	T	159	ENSP00000357362:P159T	ENSP00000357362:P159T	P	-	1	0	THBS3	153441543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.696000	0.37773	1.495000	0.48549	0.579000	0.79373	CCC		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		4	81	4	81	---	---	---	---	T	155174919	G	T	155174919	3	4	66	1	0	0	0	0	1	0	0	0	15852	1232	43	1	2479	1	THBS3	1	155174919	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	40664458	155174919	94075702	13	3096										
FCRL4	83417	broad.mit.edu	37	chr1	157558993	157558993	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaattcaccttctttctcaCctgaagaaaagagcaagcgc	6	12	3	3	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			Somatic				FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	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	18	146	---	---	---	---	G	157558993	C	G	157558993	5	3	66	1	0	0	0	0	0	0	1	0	5797	521	18	4	1279	4	FCRL4	1	157558993	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	2384074	157558993	91691628	14	3097										
NIT1	4817	broad.mit.edu	37	chr1	161088966	161088966	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcctcctgcgaactgccCctggtggctgtgtgccaggt	12	14	1	0			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.chr1:161088966C>A	ENST00000368009.2	+	3	217	c.141C>A	c.(139-141)ccC>ccA	p.P47P	NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368008.1_Silent_p.P47P|NIT1_ENST00000368007.4_Silent_p.P32P|PFDN2_ENST00000368010.3_5'Flank|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000496861.1_3'UTR|DEDD_ENST00000489249.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	47	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGAACTGCCCCTGGTGGCTG	0.532																																						ENST00000368008.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(139-141)ccC>ccA		nitrilase 1							76	74	75					1																	161088966		2203	4300	6503	SO:0001819	synonymous_variant	4817				nitrogen compound metabolic process	mitochondrion	nitrilase activity	g.chr1:161088966C>A	AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.141C>A	1.37:g.161088966C>A			Somatic				NIT1_ENST00000368009.2_Silent_p.P47P|NIT1_ENST00000392190.5_Silent_p.P11P|NIT1_ENST00000368007.4_Silent_p.P32P|NIT1_ENST00000496861.1_3'UTR	p.P47P	NM_001185092.1	NP_001172021.1	WXS	Illumina GAIIx	Phase_I	Q86X76	NIT1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	200	+	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		47			CN hydrolase.		B1AQP3|D3DVF4|O76091	Silent	SNP	ENST00000368009.2	37	c.141C>A	CCDS1218.1																																																																																				0.532	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			5	185	5	185	---	---	---	---	A	161088966	C	A	161088966	2	1	66	1	0	0	0	0	0	0	0	1	10433	610	22	1		1	NIT1	1	161088966	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	3529973	161088966	88161655	15	3098										
KIF21B	23046	broad.mit.edu	37	chr1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcacacaggtggaatagatCtgttcttgccaggtgtccag	11	10	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.chr1:200978472C>A	ENST00000422435.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H|KIF21B_ENST00000332129.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	99	---	---	---	---	A	200978472	C	A	200978472	3	1	66	1	0	0	0	0	1	0	0	0	8289	912	32	3	4820	3	KIF21B	1	200978472	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	39889506	200978472	48272149	16	3099										
ATP2B4	493	broad.mit.edu	37	chr1	203693090	203693090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgtggtgtctcttcattGggattggagaacttctgtgg	15	6	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.chr1:203693090G>T	ENST00000357681.5	+	19	4229	c.3106G>T	c.(3106-3108)Ggg>Tgg	p.G1036W	ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1036					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)			TCTCTTCATTGGGATTGGAGA	0.522																																						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.(3106-3108)Ggg>Tgg		ATPase, Ca++ transporting, plasma membrane 4							157	159	158					1																	203693090		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.chr1:203693090G>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.3106G>T	1.37:g.203693090G>T	ENSP00000350310:p.Gly1036Trp		Somatic				ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G1036W|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G1024W|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G1036W	p.G1036W	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	4229	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1036					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3106G>T	CCDS1440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.733933|4.733933	0.89482|0.89482	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360|ENST00000458092	D;D;D;D|.	0.96522|.	-4.04;-4.04;-4.04;-4.04|.	5.19|5.19	5.19|5.19	0.71726|0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.255887|.	0.28036|.	N|.	0.016852|.	D|D	0.90800|0.90800	0.7111|0.7111	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;0.99|.	D;D;P|.	0.91635|.	0.957;0.999;0.807|.	D|D	0.94441|0.94441	0.7658|0.7658	10|5	0.87932|.	D|.	0|.	-14.6879|-14.6879	18.2983|18.2983	0.90154|0.90154	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1036;1036;1036|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	W|F	1036;1036;1024;1036|22	ENSP00000350310:G1036W;ENSP00000356187:G1036W;ENSP00000356188:G1024W;ENSP00000340930:G1036W|.	ENSP00000340930:G1036W|.	G|L	+|+	1|3	0|2	ATP2B4|ATP2B4	201959713|201959713	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.813000|0.813000	0.45954|0.45954	9.777000|9.777000	0.99008|0.99008	2.426000|2.426000	0.82243|0.82243	0.650000|0.650000	0.86243|0.86243	GGG|TTG		0.522	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		4	112	4	112	---	---	---	---	T	203693090	G	T	203693090	3	4	66	1	0	0	0	0	1	0	0	0	1142	1348	47	1	3176	1	ATP2B4	1	203693090	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	2714618	203693090	45557531	17	3100										
NVL	4931	broad.mit.edu	37	chr1	224495815	224495815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccttcagaatctttggcagGggtcttcaagggaatggagc	13	8	4	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.chr1:224495815G>T	ENST00000281701.6	-	6	752	c.493C>A	c.(493-495)Cct>Act	p.P165T	NVL_ENST00000361463.3_Missense_Mutation_p.P59T|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000391875.2_Missense_Mutation_p.P59T|RNU6-1008P_ENST00000384160.1_RNA	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	165						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)		TCTTTGGCAGGGGTCTTCAAG	0.418																																						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.(493-495)Cct>Act		nuclear VCP-like							170	165	167					1																	224495815		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224495815G>T	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.493C>A	1.37:g.224495815G>T	ENSP00000281701:p.Pro165Thr		Somatic				NVL_ENST00000391875.2_Missense_Mutation_p.P59T|NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.P59T	p.P165T	NM_002533.3	NP_002524.2	WXS	Illumina GAIIx	Phase_I	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	6	752	-			165					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.493C>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444956	0.12164	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000361463;ENST00000492281;ENST00000436927	D;D;D	0.95069	-3.42;-3.46;-3.6	5.78	1.39	0.22231	.	0.621076	0.16816	N	0.198348	D	0.86904	0.6045	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73023	-0.4113	10	0.23891	T	0.37	-5.2483	3.9572	0.09395	0.1934:0.1237:0.5572:0.1257	.	165	O15381	NVL_HUMAN	T	165;59;59;70;61	ENSP00000281701:P165T;ENSP00000375747:P59T;ENSP00000354779:P59T	ENSP00000281701:P165T	P	-	1	0	NVL	222562438	0.188000	0.23250	0.673000	0.29887	0.211000	0.24417	0.903000	0.28475	0.344000	0.23847	0.655000	0.94253	CCT		0.418	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		6	323	6	323	---	---	---	---	T	224495815	G	T	224495815	3	4	66	1	0	0	0	0	1	0	0	0	10780	1232	43	1	2149	1	NVL	1	224495815	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	20802725	224495815	24754806	18	3101										
DDX1	1653	broad.mit.edu	37	chr2	15753347	15753347	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatcttgatatttatttcaGggagcttctgataattggag	9	5	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.chr2:15753347G>T	ENST00000381341.2	+	15	1345		c.e15-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						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)		ATTTATTTCAGGGAGCTTCTG	0.313																																						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.e15-1		DEAD (Asp-Glu-Ala-Asp) box helicase 1							54	58	57					2																	15753347		2201	4299	6500	SO:0001630	splice_region_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.chr2:15753347G>T	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.957-1G>T	2.37:g.15753347G>T			Somatic				DDX1_ENST00000233084.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	15	1345	+	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)						B4DME8|B4DPN6	Splice_Site	SNP	ENST00000381341.2	37		CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650337	0.87958	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15670798	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.755000	0.91646	2.810000	0.96702	0.585000	0.79938	.		0.313	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	Intron	4	101	4	101	---	---	---	---	T	15753347	G	T	15753347	5	4	66	1	0	0	0	0	0	0	1	0	4341	1014	35	1	1010	1	DDX1	2	15753347	Splice_Site	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		15753347	227446026	19	3102										
PRKD3	23683	broad.mit.edu	37	chr2	37543436	37543436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagataaagacagttcctGggcttcaatggtaacactct	9	9	2	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.chr2:37543436G>T	ENST00000379066.1	-	2	994	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K			O94806	KPCD3_HUMAN	protein kinase D3	78					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)				GACAGTTCCTGGGCTTCAATG	0.423																																					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.(232-234)Cag>Aag		protein kinase D3							161	154	156					2																	37543436		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.chr2:37543436G>T	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.232C>A	2.37:g.37543436G>T	ENSP00000368356:p.Gln78Lys		Somatic				PRKD3_ENST00000234179.2_Missense_Mutation_p.Q78K	p.Q78K			WXS	Illumina GAIIx	Phase_I	O94806	KPCD3_HUMAN			2	994	-		all_hematologic(82;0.21)	78					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.232C>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	5.576	0.291019	0.10567	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.64438	-0.1;-0.1	5.67	5.67	0.87782	.	0.286619	0.35870	N	0.002926	T	0.50222	0.1603	N	0.19112	0.55	0.34172	D	0.669967	B;B	0.24317	0.101;0.034	B;B	0.28385	0.089;0.019	T	0.54774	-0.8243	10	0.21014	T	0.42	-6.4336	17.9492	0.89047	0.0:0.0:1.0:0.0	.	78;78	O94806-2;O94806	.;KPCD3_HUMAN	K	78	ENSP00000368356:Q78K;ENSP00000234179:Q78K	ENSP00000234179:Q78K	Q	-	1	0	PRKD3	37396940	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.361000	0.52306	2.665000	0.90641	0.591000	0.81541	CAG		0.423	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		6	321	6	321	---	---	---	---	T	37543436	G	T	37543436	3	4	66	1	0	0	0	0	1	0	0	0	12520	1357	47	1	2512	1	PRKD3	2	37543436	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	21790089	37543436	205655937	20	3103										
MTA3	57504	broad.mit.edu	37	chr2	42871298	42871298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactcattggtctatgaccCctcattgaaaacactattag	5	11	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.chr2:42871298C>A	ENST00000405094.1	+	6	413	c.413C>A	c.(412-414)cCc>cAc	p.P138H	MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000405592.1_Missense_Mutation_p.P82H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H|MTA3_ENST00000407270.3_Missense_Mutation_p.P138H			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	138	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GTCTATGACCCCTCATTGAAA	0.348																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(244-246)cCc>cAc		metastasis associated 1 family, member 3							130	118	122					2																	42871298		1836	4094	5930	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42871298C>A	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.413C>A	2.37:g.42871298C>A	ENSP00000385823:p.Pro138His		Somatic				MTA3_ENST00000407270.3_Missense_Mutation_p.P138H|MTA3_ENST00000405094.1_Missense_Mutation_p.P138H|MTA3_ENST00000406911.1_Missense_Mutation_p.P138H|MTA3_ENST00000406652.1_Missense_Mutation_p.P82H	p.P82H	NM_001282755.1	NP_001269684.1	WXS	Illumina GAIIx	Phase_I	Q9BTC8	MTA3_HUMAN			7	915	+			138			BAH.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.245C>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.666465	0.88251	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	4.78	4.78	0.61160	.	0.062767	0.64402	N	0.000003	D	0.94870	0.8342	M	0.84948	2.725	0.80722	D	1	P;D;D	0.89917	0.835;0.964;1.0	P;P;D	0.83275	0.728;0.773;0.996	D	0.95592	0.8655	10	0.87932	D	0	-12.5763	16.7585	0.85506	0.0:1.0:0.0:0.0	.	138;138;82	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	H	82;82;138;138;138;138	ENSP00000383973:P82H;ENSP00000384249:P82H;ENSP00000385045:P138H;ENSP00000385241:P138H;ENSP00000385823:P138H	ENSP00000282366:P138H	P	+	2	0	MTA3	42724802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.198000	0.77823	2.459000	0.83118	0.650000	0.86243	CCC		0.348	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		4	116	4	116	---	---	---	---	A	42871298	C	A	42871298	3	1	66	1	0	0	0	0	1	0	0	0	9910	623	22	1	435	1	MTA3	2	42871298	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5327862	42871298	200328075	21	3104										
MSH6	2956	broad.mit.edu	37	chr2	48027255	48027255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattttgaagaatatattccCttggattctgacacagtcag	7	7	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.chr2:48027255C>A	ENST00000234420.5	+	4	2285	c.2133C>A	c.(2131-2133)ccC>ccA	p.P711P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P409P|MSH6_ENST00000540021.1_Silent_p.P581P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	711					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)			AATATATTCCCTTGGATTCTG	0.408			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			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.(2131-2133)ccC>ccA	Mismatch excision repair (MMR)	mutS homolog 6							108	108	108					2																	48027255		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.chr2:48027255C>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.2133C>A	2.37:g.48027255C>A			Somatic				FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.P581P|MSH6_ENST00000538136.1_Silent_p.P409P	p.P711P	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2285	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.2133C>A	CCDS1836.1																																																																																				0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		6	364	6	364	---	---	---	---	A	48027255	C	A	48027255	2	1	66	1	0	0	0	0	0	0	0	1	9874	668	24	1		1	MSH6	2	48027255	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5155957	48027255	195172118	22	3105										
CCT4	10575	broad.mit.edu	37	chr2	62104186	62104186	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcacagtcatcaattgtccCactaaggataaaagaaaaca	5	10	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.chr2:62104186C>A	ENST00000394440.3	-	7	942	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_5'Flank|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|CCT4_ENST00000544079.1_Splice_Site_p.G186W	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	216					'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)			TCAATTGTCCCACTAAGGATA	0.393																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(646-648)Ggg>Tgg		chaperonin containing TCP1, subunit 4 (delta)							69	70	70					2																	62104186		2203	4300	6503	SO:0001630	splice_region_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62104186C>A		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.645-1G>T	2.37:g.62104186C>A			Somatic				CCT4_ENST00000544079.1_Splice_Site_p.G186W|CCT4_ENST00000538252.1_Splice_Site_p.G160W|CCT4_ENST00000544185.1_Splice_Site_p.G66W|AC107081.5_ENST00000425779.1_RNA	p.G216W	NM_006430.3	NP_006421.2	WXS	Illumina GAIIx	Phase_I	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		7	942	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		216					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Splice_Site	SNP	ENST00000394440.3	37	c.646G>T	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483255	0.84747	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.48	5.48	0.80851	.	0.093010	0.85682	D	0.000000	D	0.96137	0.8741	H	0.99894	4.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.98164	1.0448	10	0.87932	D	0	-9.2373	19.3339	0.94307	0.0:1.0:0.0:0.0	.	186;216	F5H5W3;P50991	.;TCPD_HUMAN	W	216;186;66;160	ENSP00000377958:G216W;ENSP00000443061:G186W;ENSP00000443451:G66W;ENSP00000442174:G160W	ENSP00000377958:G216W	G	-	1	0	CCT4	61957690	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.598000	0.82745	2.730000	0.93505	0.655000	0.94253	GGG		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		Missense_Mutation	5	197	5	197	---	---	---	---	A	62104186	C	A	62104186	5	1	66	1	0	0	0	0	0	0	1	0	2955	608	21	1	1005	1	CCT4	2	62104186	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	14076931	62104186	181095187	23	3106										
BOLA3	388962	broad.mit.edu	37	chr2	74362730	74362730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggcgtggtcagcgtttgGggacagaggtaaatatccgc	16	8	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.chr2:74362730G>T	ENST00000327428.5	-	4	433	c.314C>A	c.(313-315)cCc>cAc	p.P105H	BOLA3_ENST00000295326.4_Silent_p.P75P	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	105						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						TCAGCGTTTGGGGACAGAGGT	0.418																																						ENST00000327428.5																			0				large_intestine(1)|lung(1)	2						c.(313-315)cCc>cAc		bolA family member 3							224	189	201					2																	74362730		2203	4300	6503	SO:0001583	missense	388962					extracellular region		g.chr2:74362730G>T	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"bolA-like 3 (E. coli)", "bolA homolog 3 (E. coli)"			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.314C>A	2.37:g.74362730G>T	ENSP00000331369:p.Pro105His		Somatic				BOLA3_ENST00000295326.4_Silent_p.P75P	p.P105H	NM_212552.2	NP_997717.2	WXS	Illumina GAIIx	Phase_I	Q53S33	BOLA3_HUMAN			4	433	-			105					G3XAB0	Missense_Mutation	SNP	ENST00000327428.5	37	c.314C>A	CCDS33225.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461852	0.84425	.	.	ENSG00000163170	ENST00000327428	T	0.70045	-0.45	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83855	0.0265	9	0.87932	D	0	-23.5183	16.3832	0.83489	0.0:0.0:1.0:0.0	.	105	Q53S33	BOLA3_HUMAN	H	105	ENSP00000331369:P105H	ENSP00000331369:P105H	P	-	2	0	BOLA3	74216238	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.899000	0.75682	2.804000	0.96469	0.655000	0.94253	CCC		0.418	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		7	256	7	256	---	---	---	---	T	74362730	G	T	74362730	3	4	66	1	0	0	0	0	1	0	0	0	1486	1232	43	1	84	1	BOLA3	2	74362730	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12258544	74362730	168836643	24	3107										
PKP4	8502	broad.mit.edu	37	chr2	159499082	159499082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagaatgcttgtggtgccCttcgaaacctcgtttttggc	11	9	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.chr2:159499082C>A	ENST00000389759.3	+	11	1892	c.1780C>A	c.(1780-1782)Ctt>Att	p.L594I	PKP4_ENST00000389757.3_Missense_Mutation_p.L594I	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	594					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						TTGTGGTGCCCTTCGAAACCT	0.413										HNSCC(62;0.18)																												ENST00000389757.3																			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.(1780-1782)Ctt>Att		plakophilin 4							132	133	133					2																	159499082		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159499082C>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.1780C>A	2.37:g.159499082C>A	ENSP00000374409:p.Leu594Ile	HNSCC(62;0.18)	Somatic				PKP4_ENST00000389759.3_Missense_Mutation_p.L594I	p.L594I	NM_001005476.1	NP_001005476.1	WXS	Illumina GAIIx	Phase_I	Q99569	PKP4_HUMAN			11	1905	+			594					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1780C>A	CCDS33305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.238146|4.238146	0.79800|0.79800	.|.	.|.	ENSG00000144283|ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759|ENST00000389756	D;D|.	0.84146|.	-1.81;-1.81|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79551|0.79551	0.4465|0.4465	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.994;1.0;0.999;1.0;0.996|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.997;0.999;0.999|.	T|T	0.82896|0.82896	-0.0230|-0.0230	10|6	0.87932|0.87932	D|D	0|0	-7.849|-7.849	10.5651|10.5651	0.45167|0.45167	0.0:0.8576:0.0:0.1424|0.0:0.8576:0.0:0.1424	.|.	446;549;594;594;445|.	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2|.	.;.;.;PKP4_HUMAN;.|.	I|H	445;594;594|81	ENSP00000374407:L594I;ENSP00000374409:L594I|.	ENSP00000374407:L594I|ENSP00000374406:P81H	L|P	+|+	1|2	0|0	PKP4|PKP4	159207328|159207328	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.304000|3.304000	0.51866|0.51866	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.413	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			5	222	5	222	---	---	---	---	A	159499082	C	A	159499082	3	1	66	1	0	0	0	0	1	0	0	0	11987	681	24	1	1818	1	PKP4	2	159499082	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	85136352	159499082	83700291	25	3108										
XIRP2	129446	broad.mit.edu	37	chr2	168099282	168099282	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcccccacctgacgtactTcaaacttcagtagatgtgac	6	15	2	3	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_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L	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			Somatic				XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L460L	p.L460L	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	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	24	188	---	---	---	---	G	168099282	T	G	168099282	2	3	66	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	8600200	168099282	75100091	26	3109										
PPIG	9360	broad.mit.edu	37	chr2	170493832	170493832	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgatagagatcaaagtccCttctcaaaaataaaacaaag	6	8	2	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.chr2:170493832C>A	ENST00000260970.3	+	14	2284	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	688					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)	ATCAAAGTCCCTTCTCAAAAA	0.348																																						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.(2062-2064)ccC>ccA		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						51	54	53					2																	170493832		2202	4300	6502	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493832C>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.2064C>A	2.37:g.170493832C>A			Somatic				PPIG_ENST00000448752.2_Silent_p.P688P|PPIG_ENST00000409714.3_Silent_p.P673P	p.P688P	NM_004792.2	NP_004783.2	WXS	Illumina GAIIx	Phase_I	Q13427	PPIG_HUMAN			14	2284	+			688					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.2064C>A	CCDS2235.1																																																																																				0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			4	146	4	146	---	---	---	---	A	170493832	C	A	170493832	2	1	66	1	0	0	0	0	0	0	0	1	12324	668	24	1		1	PPIG	2	170493832	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	2394550	170493832	72705541	27	3110										
CCNYL1	151195	broad.mit.edu	37	chr2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-													0	0	1	0	0	0	1	1	0	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	MIR4775_ENST00000581168.1_RNA|CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|RP11-801F7.1_ENST00000609146.1_RNA|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del			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)agadel		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		Somatic				CCNYL1_ENST00000468768.1_3'UTR|CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del	p.R341del			WXS	Illumina GAIIx	Phase_I	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	66	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	38124528	208618360	34581013	28	3111										
CRYGB	1419	broad.mit.edu	37	chr2	209007467	209007467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagcagatactgcctcccCctgtagttgggcatctcata	8	14	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.chr2:209007467C>A	ENST00000260988.4	-	3	470	c.423G>T	c.(421-423)agG>agT	p.R141S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	141	Beta/gamma crystallin 'Greek key' 4. {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)		ACTGCCTCCCCCTGTAGTTGG	0.532																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(421-423)agG>agT		crystallin, gamma B							98	98	98					2																	209007467		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209007467C>A		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.423G>T	2.37:g.209007467C>A	ENSP00000260988:p.Arg141Ser		Somatic					p.R141S	NM_005210.3	NP_005201.2	WXS	Illumina GAIIx	Phase_I	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	470	-			141			Beta/gamma crystallin 'Greek key' 4.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.423G>T	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255155	0.59321	.	.	ENSG00000182187	ENST00000260988	T	0.77358	-1.09	4.73	1.88	0.25563	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.092958	0.64402	D	0.000001	T	0.78521	0.4296	M	0.83118	2.625	0.53005	D	0.999961	P	0.37864	0.61	B	0.43225	0.412	T	0.77051	-0.2731	10	0.87932	D	0	.	5.8811	0.18856	0.0:0.6442:0.1643:0.1915	.	141	P07316	CRGB_HUMAN	S	141	ENSP00000260988:R141S	ENSP00000260988:R141S	R	-	3	2	CRYGB	208715712	0.847000	0.29606	0.994000	0.49952	0.996000	0.88848	0.062000	0.14389	0.681000	0.31386	0.561000	0.74099	AGG		0.532	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		6	312	6	312	---	---	---	---	A	209007467	C	A	209007467	3	1	66	1	0	0	0	0	1	0	0	0	3915	622	22	1	108	1	CRYGB	2	209007467	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	389107	209007467	34191906	29	3112										
TRIP12	9320	broad.mit.edu	37	chr2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttgaaaaattttaaagccTgtgatcctctgttgagagaa	9	5	1	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_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	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		Somatic				TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R	p.Q1256R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	WXS	Illumina GAIIx	Phase_I	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	16	119	---	---	---	---	C	230657838	T	C	230657838	3	2	66	1	0	0	0	0	1	0	0	0	16553	1580	55	2	2275	2	TRIP12	2	230657838	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	21650371	230657838	12541535	30	3113										
SP110	3431	broad.mit.edu	37	chr2	231050859	231050859	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgcccaggtgaggctgccCctggaccaaatagacttgtg	12	12	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.chr2:231050859C>A	ENST00000358662.4	-	11	1208	c.1130G>T	c.(1129-1131)gGg>gTg	p.G377V	SP110_ENST00000258381.6_Splice_Site_p.G377V|SP110_ENST00000540870.1_Splice_Site_p.G383V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000392048.3_Splice_Site_p.G375V	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	377					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)		TGAGGCTGCCCCTGGACCAAA	0.483																																						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.(1129-1131)gGg>gTg		SP110 nuclear body protein							88	77	81					2																	231050859		2203	4300	6503	SO:0001630	splice_region_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231050859C>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.1130-1G>T	2.37:g.231050859C>A			Somatic				SP110_ENST00000392048.3_Splice_Site_p.G375V|SP110_ENST00000358662.4_Splice_Site_p.G377V|SP110_ENST00000258382.5_Splice_Site_p.G377V|SP110_ENST00000338556.3_Splice_Site_p.G79V|SP110_ENST00000540870.1_Splice_Site_p.G383V	p.G377V	NM_080424.2	NP_536349	WXS	Illumina GAIIx	Phase_I	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	1207	-		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)	377					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Splice_Site	SNP	ENST00000358662.4	37	c.1130G>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214527	0.09810	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.73681	0.71;0.55;-0.77;-0.58;-0.56;2.01	2.46	0.537	0.17144	.	.	.	.	.	T	0.78735	0.4330	L	0.49126	1.545	0.09310	N	0.999998	D;P;D;D;D	0.69078	0.997;0.901;0.997;0.99;0.997	D;B;D;P;P	0.83275	0.996;0.333;0.996;0.676;0.899	T	0.65010	-0.6272	9	0.66056	D	0.02	.	5.1547	0.15029	0.2035:0.6612:0.0:0.1353	.	375;79;383;377;377	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	V	377;377;375;377;383;79	ENSP00000258381:G377V;ENSP00000351488:G377V;ENSP00000375902:G375V;ENSP00000258382:G377V;ENSP00000439558:G383V;ENSP00000344049:G79V	ENSP00000258381:G377V	G	-	2	0	SP110	230759103	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.373000	0.07494	-0.161000	0.10983	-2.157000	0.00329	GGG		0.483	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	Missense_Mutation	4	127	4	127	---	---	---	---	A	231050859	C	A	231050859	5	1	66	1	0	0	0	0	0	0	1	0	14961	637	22	1	1111	1	SP110	2	231050859	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	393021	231050859	12148514	31	3114										
NEU4	129807	broad.mit.edu	37	chr2	242755700	242755700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatgggggtccctcgtaccCcttcacggacagtgctcttc	11	15	2	0			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.chr2:242755700C>A	ENST00000391969.2	+	3	730	c.19C>A	c.(19-21)Cct>Act	p.P7T	NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	7					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)		CCCTCGTACCCCTTCACGGAC	0.687																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(19-21)Cct>Act		sialidase 4							36	37	37					2																	242755700		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755700C>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.19C>A	2.37:g.242755700C>A	ENSP00000375830:p.Pro7Thr		Somatic				NEU4_ENST00000325935.6_Missense_Mutation_p.P20T|NEU4_ENST00000404257.1_Missense_Mutation_p.P19T|NEU4_ENST00000405370.1_Missense_Mutation_p.P7T|NEU4_ENST00000407683.1_Missense_Mutation_p.P7T	p.P7T	NM_001167602.1	NP_001161074.1	WXS	Illumina GAIIx	Phase_I	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	730	+		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)	7					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.19C>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.33|18.33	3.599686|3.599686	0.66332|0.66332	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000472793|ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592	.|T;T;T;T;T;T;T;T;T;T;T	.|0.39592	.|2.97;1.12;2.97;2.97;2.97;2.97;2.97;1.39;1.07;2.97;2.97	3.65|3.65	2.75|2.75	0.32379|0.32379	.|Neuraminidase (1);	0.121970|0.121970	0.56097|0.56097	U|U	0.000029|0.000029	T|T	0.45034|0.45034	0.1322|0.1322	L|L	0.27053|0.27053	0.805|0.805	0.53005|0.53005	D|D	0.999963|0.999963	.|D;D;D	.|0.76494	.|0.999;0.999;0.996	.|D;D;P	.|0.67382	.|0.921;0.951;0.858	T|T	0.30765|0.30765	-0.9967|-0.9967	7|10	0.66056|0.37606	D|T	0.02|0.19	-15.4554|-15.4554	10.2751|10.2751	0.43506|0.43506	0.0:0.8995:0.0:0.1005|0.0:0.8995:0.0:0.1005	.|.	.|19;19;7	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	H|T	30|7;7;7;7;19;7;20;46;7;19;7;48	.|ENSP00000385402:P7T;ENSP00000397167:P7T;ENSP00000384804:P7T;ENSP00000397860:P7T;ENSP00000385149:P19T;ENSP00000375830:P7T;ENSP00000320318:P20T;ENSP00000398571:P7T;ENSP00000406678:P19T;ENSP00000388707:P7T;ENSP00000396197:P48T	ENSP00000441629:P30H|ENSP00000320318:P20T	P|P	+|+	2|1	0|0	NEU4|NEU4	242404373|242404373	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.012000|0.012000	0.07955|0.07955	5.150000|5.150000	0.64869|0.64869	1.587000|1.587000	0.49959|0.49959	0.443000|0.443000	0.29094|0.29094	CCC|CCT		0.687	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	64	4	64	---	---	---	---	A	242755700	C	A	242755700	3	1	66	1	0	0	0	0	1	0	0	0	10344	623	22	1	64	1	NEU4	2	242755700	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	11704841	242755700	443673	32	3115										
OXSM	54995	broad.mit.edu	37	chr3	25833004	25833004	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagttgtttctgaaactgctTtgaattttcagacaaaaggt	8	5	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.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	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			Somatic				OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	p.L165L	NM_017897.2	NP_060367.1	WXS	Illumina GAIIx	Phase_I	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	29	268	---	---	---	---	C	25833004	T	C	25833004	2	2	66	1	0	0	0	0	0	0	0	1	11335	1838	64	2		2	OXSM	3	25833004	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		25833004	172189426	33	3116										
LRRFIP2	9209	broad.mit.edu	37	chr3	37125219	37125219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgtctacttggtagatcaAattgttcttctcattgtcta	7	7	5	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.chr3:37125219A>G	ENST00000336686.4	-	19	1266	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000421307.1_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|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			Somatic				LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000421276.2_Silent_p.L164L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L	p.L396L	NM_006309.2	NP_006300.1	WXS	Illumina GAIIx	Phase_I	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	58	207	---	---	---	---	G	37125219	A	G	37125219	2	3	66	1	0	0	0	0	0	0	0	1	9028	11	1	2		2	LRRFIP2	3	37125219	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	11292215	37125219	160897211	34	3117										
GRM2	2912	broad.mit.edu	37	chr3	51750047	51750047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcaagactcgcaagtgccCcgaaaacttcaacgaggcca	8	14	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.chr3:51750047C>A	ENST00000395052.3	+	4	2492	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.P475H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	753					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)		CGCAAGTGCCCCGAAAACTTC	0.547																																						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.(2257-2259)cCc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						107	89	95					3																	51750047		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51750047C>A	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.2258C>A	3.37:g.51750047C>A	ENSP00000378492:p.Pro753His		Somatic				GRM2_ENST00000442933.2_Missense_Mutation_p.P475H|GRM2_ENST00000475478.1_3'UTR	p.P753H	NM_000839.3	NP_000830.2	WXS	Illumina GAIIx	Phase_I	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	2492	+			753					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.2258C>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551175	0.27739	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.90004	-2.6;-2.6	5.08	5.08	0.68730	GPCR, family 3, C-terminal (2);	0.058781	0.64402	D	0.000002	D	0.96617	0.8896	H	0.96943	3.91	0.23010	N	0.998439	D	0.89917	1.0	D	0.97110	1.0	D	0.91345	0.5100	10	0.87932	D	0	.	18.4529	0.90710	0.0:1.0:0.0:0.0	.	753	Q14416	GRM2_HUMAN	H	753;475	ENSP00000378492:P753H;ENSP00000408906:P475H	ENSP00000378492:P753H	P	+	2	0	GRM2	51725087	1.000000	0.71417	0.974000	0.42286	0.299000	0.27559	5.913000	0.69957	2.532000	0.85374	0.549000	0.68633	CCC		0.547	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			4	118	4	118	---	---	---	---	A	51750047	C	A	51750047	3	1	66	1	0	0	0	0	1	0	0	0	6797	623	22	1	2268	1	GRM2	3	51750047	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	14624828	51750047	146272383	35	3118										
CRYBG3	131544	broad.mit.edu	37	chr3	97652652	97652652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggacctacacttctacaccCagtctgtgtgggtaaaaagt	9	10	2	0			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.chr3:97652652C>A	ENST00000182096.4	+	15	2576	c.2512C>A	c.(2512-2514)Cag>Aag	p.Q838K	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2786							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTTCTACACCCAGTCTGTGTG	0.453																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2512-2514)Cag>Aag		beta-gamma crystallin domain containing 3							118	114	115					3																	97652652		1875	4107	5982	SO:0001583	missense	131544							g.chr3:97652652C>A			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.2512C>A	3.37:g.97652652C>A	ENSP00000182096:p.Gln838Lys		Somatic				CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q45K	p.Q838K	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					15	2576	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2512C>A		.	.	.	.	.	.	.	.	.	.	C	16.07	3.018822	0.54576	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	T;T;T	0.75821	-0.97;-0.97;-0.97	5.5	5.5	0.81552	Beta/gamma crystallin (3);Gamma-crystallin-related (1);	0.279079	0.31484	N	0.007574	D	0.84866	0.5567	M	0.62723	1.935	0.41321	D	0.987177	D	0.76494	0.999	D	0.81914	0.995	T	0.82841	-0.0258	10	0.37606	T	0.19	.	19.7571	0.96298	0.0:1.0:0.0:0.0	.	838	Q68DQ2	CRBG3_HUMAN	K	838;44;45	ENSP00000182096:Q838K;ENSP00000418420:Q44K;ENSP00000374273:Q45K	ENSP00000182096:Q838K	Q	+	1	0	CRYBG3	99135342	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.687000	0.54692	2.758000	0.94735	0.561000	0.74099	CAG		0.453	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		5	182	5	182	---	---	---	---	A	97652652	C	A	97652652	3	1	66	1	0	0	0	0	1	0	0	0	3913	595	21	1	2570	1	CRYBG3	3	97652652	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	45902605	97652652	100369778	36	3119										
SLC12A8	84561	broad.mit.edu	37	chr3	124810946	124810946	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaagatgaagttactcaccCccaacagggagacccagggg	11	12	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.chr3:124810946C>A	ENST00000393469.4	-	10	1851	c.1802G>T	c.(1801-1803)gGg>gTg	p.G601V	SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000423114.2_Splice_Site_p.G630V|SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000465475.1_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	601					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GTTACTCACCCCCAACAGGGA	0.493																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(1888-1890)gGg>gTg		solute carrier family 12, member 8							61	65	64					3																	124810946		1886	4111	5997	SO:0001630	splice_region_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124810946C>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.1803+1G>T	3.37:g.124810946C>A			Somatic				SLC12A8_ENST00000469902.1_Splice_Site_p.G601V|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Splice_Site_p.G402V|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000393469.4_Splice_Site_p.G601V	p.G630V			WXS	Illumina GAIIx	Phase_I	A0AV02	S12A8_HUMAN			11	1888	-			601					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Splice_Site	SNP	ENST00000393469.4	37	c.1889G>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451326	0.84209	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.94138	-2.8;-3.32;-3.36;-3.32	5.39	5.39	0.77823	.	.	.	.	.	D	0.96454	0.8843	M	0.75264	2.295	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	0.96715	0.9528	9	0.87932	D	0	.	16.993	0.86359	0.0:1.0:0.0:0.0	.	630;601;402	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	V	402;601;630;601	ENSP00000415713:G402V;ENSP00000377112:G601V;ENSP00000404243:G630V;ENSP00000418783:G601V	ENSP00000377112:G601V	G	-	2	0	SLC12A8	126293636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.130000	0.64745	2.689000	0.91719	0.557000	0.71058	GGG		0.493	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628	Missense_Mutation	5	117	5	117	---	---	---	---	A	124810946	C	A	124810946	5	1	66	1	0	0	0	0	0	0	1	0	14389	637	22	1	358	1	SLC12A8	3	124810946	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	27158294	124810946	73211484	37	3120										
IFT80	57560	broad.mit.edu	37	chr3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcccaatgttgttccaccaCatgtgcaaaaacgacatgtc	6	13	0	0			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	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M	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		Somatic				RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	p.V298M	NM_020800.2	NP_065851.1	WXS	Illumina GAIIx	Phase_I	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	8	219	---	---	---	---	T	160037613	C	T	160037613	3	4	66	1	0	0	0	0	1	0	0	0	7564	478	17	2	1489	2	IFT80	3	160037613	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	35226667	160037613	37984817	38	3121										
SEL1L3	23231	broad.mit.edu	37	chr4	25849008	25849008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacttgatgatctttgaaaGggcgttcaaaaggcgggatg	13	6	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.chr4:25849008G>T	ENST00000399878.3	-	2	763	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	214						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTGAAAGGGCGTTCAAA	0.463																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(640-642)cCt>cAt		sel-1 suppressor of lin-12-like 3 (C. elegans)							103	96	98					4																	25849008		1917	4125	6042	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25849008G>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.641C>A	4.37:g.25849008G>T	ENSP00000382767:p.Pro214His		Somatic				SEL1L3_ENST00000502949.1_Missense_Mutation_p.P61H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.P179H|SEL1L3_ENST00000513364.1_Intron	p.P214H	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	Q68CR1	SE1L3_HUMAN			2	763	-			214					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.641C>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547175	0.86022	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000510880;ENST00000513691	T;T;T	0.18657	2.2;2.2;2.2	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	M	0.65498	2.005	0.48135	D	0.999595	D	0.89917	1.0	D	0.97110	1.0	T	0.44997	-0.9291	10	0.87932	D	0	-13.5317	19.6562	0.95842	0.0:0.0:1.0:0.0	.	214	Q68CR1	SE1L3_HUMAN	H	214;179;61;61;61	ENSP00000382767:P214H;ENSP00000264868:P179H;ENSP00000425438:P61H	ENSP00000264868:P179H	P	-	2	0	SEL1L3	25458106	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.159000	0.77483	2.639000	0.89480	0.555000	0.69702	CCT		0.463	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		5	139	5	139	---	---	---	---	T	25849008	G	T	25849008	3	4	66	1	0	0	0	0	1	0	0	0	14012	1000	35	1	2849	1	SEL1L3	4	25849008	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		25849008	165305268	39	3122										
ARAP2	116984	broad.mit.edu	37	chr4	36130284	36130284	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccctcaatttaaagcttcTtgcatcctttttgaaactct	4	11	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.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			Somatic					p.R1171R	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	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	11	175	---	---	---	---	G	36130284	T	G	36130284	2	3	66	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	10281276	36130284	155023992	40	3123										
UBA6	55236	broad.mit.edu	37	chr4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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																																						ENST00000322244.5																			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)aacfs		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		Somatic				UBA6_ENST00000420827.2_Frame_Shift_Ins_p.N318fs	p.N318fs	NM_018227.5	NP_060697.4	WXS	Illumina GAIIx	Phase_I	A0AVT1	UBA6_HUMAN			11	1012_1013	-								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	66	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	32399325	68529609	122624667	41	3124										
MRPL1	65008	broad.mit.edu	37	chr4	78784032	78784032	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgtaaggtgcatgggtagAggtaaggcgaggggttgtct	19	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.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.(28-30)agA>agC		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			Somatic					p.R10S	NM_020236.3	NP_064621.3	WXS	Illumina GAIIx	Phase_I	Q9BYD6	RM01_HUMAN			1	359	+			10					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Splice_Site	SNP	ENST00000315567.8	37	c.30A>C	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	6	169	---	---	---	---	C	78784032	A	C	78784032	5	2	66	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	42	3125										
ANK2	287	broad.mit.edu	37	chr4	114279714	114279714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggactatgcccacttccaccCcagcacctccatctgcagag	7	18	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.chr4:114279714C>A	ENST00000357077.4	+	38	9993	c.9940C>A	c.(9940-9942)Cca>Aca	p.P3314T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3314					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)		CACTTCCACCCCAGCACCTCC	0.428																																						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.(9940-9942)Cca>Aca		ankyrin 2, neuronal							104	102	103					4																	114279714		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279714C>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.9940C>A	4.37:g.114279714C>A	ENSP00000349588:p.Pro3314Thr		Somatic				ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3281T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	p.P3314T	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9993	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3281					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9940C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.217	-0.160398	0.06502	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.95949	-0.19;-0.21;-3.86	5.51	0.683	0.17998	.	0.493081	0.18623	N	0.135815	D	0.90072	0.6899	L	0.44542	1.39	0.09310	N	1	B;B	0.23249	0.049;0.082	B;B	0.25140	0.026;0.058	T	0.78588	-0.2146	10	0.29301	T	0.29	.	3.3639	0.07197	0.1227:0.5771:0.1189:0.1813	.	3281;3314	Q01484;Q01484-4	ANK2_HUMAN;.	T	3314;3281;324	ENSP00000349588:P3314T;ENSP00000264366:P3281T;ENSP00000422498:P324T	ENSP00000264366:P3281T	P	+	1	0	ANK2	114499163	0.000000	0.05858	0.001000	0.08648	0.446000	0.32137	-0.323000	0.07997	-0.222000	0.09958	0.650000	0.86243	CCA		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	305	8	305	---	---	---	---	A	114279714	C	A	114279714	3	1	66	1	0	0	0	0	1	0	0	0	621	623	22	1	10155	1	ANK2	4	114279714	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	35495682	114279714	76874562	43	3126										
PCDH10	57575	broad.mit.edu	37	chr4	134073378	134073378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggcgggagcggaggcggaGggtcaggagagcaccagcgc	23	9	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.chr4:134073378G>T	ENST00000264360.5	+	1	2909	c.2083G>T	c.(2083-2085)Ggg>Tgg	p.G695W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	695					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)		cggaggcggaggGTCAGGAGA	0.697																																						ENST00000264360.5																			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.(2083-2085)Ggg>Tgg		protocadherin 10							49	59	55					4																	134073378		2201	4299	6500	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073378G>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.2083G>T	4.37:g.134073378G>T	ENSP00000264360:p.Gly695Trp		Somatic					p.G695W	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2909	+								Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2083G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849737	0.51270	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	4.48	4.48	0.54585	.	0.000000	0.43919	D	0.000519	T	0.48114	0.1482	L	0.39898	1.24	0.37328	D	0.909847	P;P	0.45474	0.859;0.859	B;P	0.46885	0.406;0.53	T	0.60444	-0.7262	10	0.87932	D	0	.	16.1033	0.81203	0.0:0.0:1.0:0.0	.	695;695	Q9P2E7;Q96SF0	PCD10_HUMAN;.	W	695	ENSP00000264360:G695W	ENSP00000264360:G695W	G	+	1	0	PCDH10	134292828	0.926000	0.31397	0.991000	0.47740	0.993000	0.82548	0.090000	0.15025	2.322000	0.78497	0.561000	0.74099	GGG		0.697	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		4	79	4	79	---	---	---	---	T	134073378	G	T	134073378	3	4	66	1	0	0	0	0	1	0	0	0	11507	1000	35	1	2085	1	PCDH10	4	134073378	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	19793664	134073378	57080898	44	3127										
RAPGEF2	9693	broad.mit.edu	37	chr4	160275188	160275188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggcatcaagtactacaaaGgggctcattggtaagtttta	11	6	2	0			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.chr4:160275188G>T	ENST00000264431.4	+	22	4577	c.4158G>T	c.(4156-4158)aaG>aaT	p.K1386N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1386					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)		GTACTACAAAGGGGCTCATTG	0.423																																						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.(4156-4158)aaG>aaT		Rap guanine nucleotide exchange factor (GEF) 2							36	37	37					4																	160275188		1813	3986	5799	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.chr4:160275188G>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.4158G>T	4.37:g.160275188G>T	ENSP00000264431:p.Lys1386Asn		Somatic					p.K1386N	NM_014247.2	NP_055062.1	WXS	Illumina GAIIx	Phase_I	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	4577	+	all_hematologic(180;0.24)		1386					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4158G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.420574|3.420574	0.62622|0.62622	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431	.|T	.|0.55413	.|0.52	6.17|6.17	4.47|4.47	0.54385|0.54385	.|.	.|0.092230	.|0.64402	.|D	.|0.000001	T|T	0.52306|0.52306	0.1726|0.1726	L|L	0.58810|0.58810	1.83|1.83	0.58432|0.58432	D|D	0.999992|0.999992	.|B	.|0.30281	.|0.275	.|B	.|0.37047	.|0.24	T|T	0.54084|0.54084	-0.8346|-0.8346	5|10	.|0.87932	.|D	.|0	.|.	10.3602|10.3602	0.43989|0.43989	0.1984:0.0:0.8016:0.0|0.1984:0.0:0.8016:0.0	.|.	.|1386	.|Q9Y4G8	.|RPGF2_HUMAN	W|N	321|1386	.|ENSP00000264431:K1386N	.|ENSP00000264431:K1386N	G|K	+|+	1|3	0|2	RAPGEF2|RAPGEF2	160494638|160494638	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.857000|0.857000	0.48899|0.48899	1.542000|1.542000	0.36137|0.36137	0.953000|0.953000	0.37825|0.37825	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		4	61	4	61	---	---	---	---	T	160275188	G	T	160275188	3	4	66	1	0	0	0	0	1	0	0	0	13044	991	35	1	4244	1	RAPGEF2	4	160275188	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	26201810	160275188	30879088	45	3128										
KLHL2	11275	broad.mit.edu	37	chr4	166243184	166243184	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttcatttctttgctcagGggtcacagttattgataaac	7	9	5	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.chr4:166243184G>T	ENST00000226725.6	+	15	2013	c.1754G>T	c.(1753-1755)gGg>gTg	p.G585V	KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Splice_Site_p.G488V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	585					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)		CTTTGCTCAGGGGTCACAGTT	0.378																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1753-1755)gGg>gTg		kelch-like family member 2							181	180	180					4																	166243184		2203	4300	6503	SO:0001630	splice_region_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166243184G>T	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.1754-1G>T	4.37:g.166243184G>T			Somatic				KLHL2_ENST00000538127.1_Splice_Site_p.G497V|KLHL2_ENST00000421009.2_Splice_Site_p.G488V|KLHL2_ENST00000514860.1_Splice_Site_p.G589V|KLHL2_ENST00000506761.1_Splice_Site_p.G419V|KLHL2_ENST00000509028.1_3'UTR	p.G585V	NM_007246.3	NP_009177.3	WXS	Illumina GAIIx	Phase_I	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)	15	2013	+	all_hematologic(180;0.221)		585					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Splice_Site	SNP	ENST00000226725.6	37	c.1754G>T	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492340	0.64074	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.75704	-0.37;-0.37;-0.96;-0.37;-0.74	5.68	5.68	0.88126	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93855	0.7148	9	.	.	.	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	589;585	B4DFH7;O95198	.;KLHL2_HUMAN	V	585;589;497;488;419	ENSP00000226725:G585V;ENSP00000424198:G589V;ENSP00000437526:G497V;ENSP00000408974:G488V;ENSP00000424108:G419V	.	G	+	2	0	KLHL2	166462634	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.550000	0.82173	2.668000	0.90789	0.563000	0.77884	GGG		0.378	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		Missense_Mutation	5	301	5	301	---	---	---	---	T	166243184	G	T	166243184	5	4	66	1	0	0	0	0	0	0	1	0	8374	1246	43	1	1854	1	KLHL2	4	166243184	Splice_Site	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	5967996	166243184	24911092	46	3129										
ING2	3622	broad.mit.edu	37	chr4	184431718	184431718	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaagatcttcaagaagaccCcgcaggcagcggaccagtga	12	11	2	4	rs201346892		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.chr4:184431718C>A	ENST00000302327.3	+	2	658	c.456C>A	c.(454-456)ccC>ccA	p.P152P	ING2_ENST00000434682.2_Silent_p.P112P	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	152					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAAGAAGACCCCGCAGGCAGC	0.458																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(454-456)ccC>ccA		inhibitor of growth family, member 2							56	60	58					4																	184431718		2203	4300	6503	SO:0001819	synonymous_variant	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431718C>A	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.456C>A	4.37:g.184431718C>A			Somatic				ING2_ENST00000434682.2_Silent_p.P112P	p.P152P	NM_001564.2	NP_001555.1	WXS	Illumina GAIIx	Phase_I	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	658	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	152					B6ZDS1|O95698	Silent	SNP	ENST00000302327.3	37	c.456C>A	CCDS3833.1																																																																																				0.458	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		4	94	4	94	---	---	---	---	A	184431718	C	A	184431718	2	1	66	1	0	0	0	0	0	0	0	1	7736	610	22	1		1	ING2	4	184431718	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	18188534	184431718	6722558	47	3130										
KLKB1	3818	broad.mit.edu	37	chr4	187175748	187175748	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttctctcctaggcttccCctgcaggatgtttggcgcat	9	12	1	0			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.chr4:187175748C>A	ENST00000264690.6	+	12	1507	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	KLKB1_ENST00000513864.1_Silent_p.P440P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	440	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		CTAGGCTTCCCCTGCAGGATG	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.(1318-1320)ccC>ccA		kallikrein B, plasma (Fletcher factor) 1							122	119	120					4																	187175748		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:187175748C>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.1320C>A	4.37:g.187175748C>A			Somatic				KLKB1_ENST00000513864.1_Silent_p.P440P	p.P440P	NM_000892.3	NP_000883.2	WXS	Illumina GAIIx	Phase_I	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)	12	1507	+		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)	440			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	c.1320C>A	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	2.297	-0.361013	0.05103	.	.	ENSG00000164344	ENST00000511608	D	0.93019	-3.15	5.8	0.366	0.16136	.	1.901350	0.02138	N	0.056881	D	0.89972	0.6870	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.79087	-0.1947	7	0.49607	T	0.09	.	3.9736	0.09464	0.1901:0.5218:0.0944:0.1936	.	.	.	.	H	488	ENSP00000426629:P488H	ENSP00000426629:P488H	P	+	2	0	KLKB1	187412742	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.002000	0.12924	0.081000	0.16988	-0.150000	0.13652	CCC		0.373	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	291	6	291	---	---	---	---	A	187175748	C	A	187175748	2	1	66	1	0	0	0	0	0	0	0	1	8412	610	22	1		1	KLKB1	4	187175748	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	2744030	187175748	3978528	48	3131										
BRD9	65980	broad.mit.edu	37	chr5	884166	884166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcaagctgcaggcattccCttcaggctcaaacatgcagc	9	14	3	0			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.chr5:884166C>A	ENST00000467963.1	-	8	1019	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000323510.4_Missense_Mutation_p.G189W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W|BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000494422.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	285					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)			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)			CAGGCATTCCCTTCAGGCTCA	0.627																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(565-567)Ggg>Tgg		bromodomain containing 9							104	83	90					5																	884166		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:884166C>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.853G>T	5.37:g.884166C>A	ENSP00000419765:p.Gly285Trp		Somatic				BRD9_ENST00000435709.2_Missense_Mutation_p.G169W|BRD9_ENST00000467963.1_Missense_Mutation_p.G285W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Missense_Mutation_p.G232W|BRD9_ENST00000388890.4_Missense_Mutation_p.G169W	p.G189W			WXS	Illumina GAIIx	Phase_I	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		5	564	-			285			Bromo.		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.565G>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978518	0.74360	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.03	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.65975	2.015	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;0.983;0.986;0.986	T	0.63116	-0.6709	10	0.35671	T	0.21	-41.8885	13.0421	0.58906	0.0:0.9208:0.0:0.0792	.	232;285;189;169	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	W	189;169;232;285;169;189	ENSP00000323557:G189W;ENSP00000373542:G169W;ENSP00000419845:G232W;ENSP00000419765:G285W;ENSP00000402984:G169W;ENSP00000420722:G189W	ENSP00000323557:G189W	G	-	1	0	BRD9	937166	1.000000	0.71417	0.496000	0.27539	0.907000	0.53573	7.030000	0.76484	1.105000	0.41606	0.609000	0.83330	GGG		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		4	111	4	111	---	---	---	---	A	884166	C	A	884166	3	1	66	1	0	0	0	0	1	0	0	0	1507	681	24	1	976	1	BRD9	5	884166	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		884166	180031094	49	3132										
FAM105B	90268	broad.mit.edu	37	chr5	14687628	14687628	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttgtttctcgatgttgtAgttaccagaaaaactcataa	6	7	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.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			Somatic						NM_138348.4	NP_612357.4	WXS	Illumina GAIIx	Phase_I	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	5	192	---	---	---	---	T	14687628	A	T	14687628	5	4	66	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	13803462	14687628	166227632	50	3133										
EGFLAM	133584	broad.mit.edu	37	chr5	38412623	38412623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggtttaattgtggaactgGggttgccatcatcgtaagtg	13	6	1	0			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.chr5:38412623G>T	ENST00000354891.3	+	11	1713	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	EGFLAM_ENST00000322350.5_Missense_Mutation_p.G456V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	456	Laminin G-like 1. {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)					TGTGGAACTGGGGTTGCCATC	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.(1366-1368)gGg>gTg		EGF-like, fibronectin type III and laminin G domains							99	98	98					5																	38412623		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38412623G>T	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.1367G>T	5.37:g.38412623G>T	ENSP00000346964:p.Gly456Val		Somatic				EGFLAM_ENST00000336740.6_Missense_Mutation_p.G222V|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G456V	p.G456V	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			11	1713	+	all_lung(31;0.000385)		456			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1367G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826538	0.90955	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.82344	-1.6;-1.6;-1.6	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.90483	3.12	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	0.93541	0.6878	10	0.87932	D	0	-17.6545	20.6439	0.99570	0.0:0.0:1.0:0.0	.	222;456;456	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	456;456;222;222	ENSP00000346964:G456V;ENSP00000313084:G456V;ENSP00000337607:G222V	ENSP00000313084:G456V	G	+	2	0	EGFLAM	38448380	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.273000	0.95719	2.890000	0.99128	0.650000	0.86243	GGG		0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	124	4	124	---	---	---	---	T	38412623	G	T	38412623	3	4	66	1	0	0	0	0	1	0	0	0	4966	1232	43	1	1423	1	EGFLAM	5	38412623	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	23724995	38412623	142502637	51	3134										
VCAN	1462	broad.mit.edu	37	chr5	82817528	82817528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaagtatctttaagtccaGggcctgaacaaaaatatgaa	7	7	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.chr5:82817528G>T	ENST00000265077.3	+	7	3968	c.3403G>T	c.(3403-3405)Ggg>Tgg	p.G1135W	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1135	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)	TTTAAGTCCAGGGCCTGAACA	0.408																																						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.(3403-3405)Ggg>Tgg		versican							74	69	71					5																	82817528		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.chr5:82817528G>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.3403G>T	5.37:g.82817528G>T	ENSP00000265077:p.Gly1135Trp		Somatic				VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1087W|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1135W	p.G1135W	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3968	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1135			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3403G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	1.426	-0.571556	0.03882	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86562	-2.0;-2.11;-2.14	5.6	2.21	0.28008	.	1.195640	0.05999	N	0.647455	T	0.76097	0.3940	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.12156	0.005;0.007	T	0.63242	-0.6681	10	0.44086	T	0.13	.	6.2193	0.20673	0.1846:0.0:0.6626:0.1528	.	1135;1135	P13611-3;P13611	.;CSPG2_HUMAN	W	1135;1135;1087	ENSP00000265077:G1135W;ENSP00000342768:G1135W;ENSP00000425959:G1087W	ENSP00000265077:G1135W	G	+	1	0	VCAN	82853284	0.008000	0.16893	0.004000	0.12327	0.130000	0.20726	1.406000	0.34646	0.643000	0.30638	0.591000	0.81541	GGG		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	173	5	173	---	---	---	---	T	82817528	G	T	82817528	3	4	66	1	0	0	0	0	1	0	0	0	17135	1000	35	1	3425	1	VCAN	5	82817528	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	44404905	82817528	98097732	52	3135										
RHOBTB3	22836	broad.mit.edu	37	chr5	95067626	95067626	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccaggacaaccggccgtcGgggcttatccgcacttacct	10	16	0	0			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.chr5:95067626G>T	ENST00000379982.3	+	2	574	c.66G>T	c.(64-66)tcG>tcT	p.S22S	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S|RHOBTB3_ENST00000515852.1_3'UTR	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	22	Rho-like.				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)		ACCGGCCGTCGGGGCTTATCC	0.657																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(64-66)tcG>tcT		Rho-related BTB domain containing 3							38	39	38					5																	95067626		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067626G>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.66G>T	5.37:g.95067626G>T			Somatic				RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.S22S	p.S22S	NM_014899.3	NP_055714.3	WXS	Illumina GAIIx	Phase_I	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	574	+		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)	22			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.66G>T	CCDS4077.1																																																																																				0.657	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	62	3	62	---	---	---	---	T	95067626	G	T	95067626	2	4	66	1	0	0	0	0	0	0	0	1	13335	1103	39	1		1	RHOBTB3	5	95067626	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12250098	95067626	85847634	53	3136										
APC	324	broad.mit.edu	37	chr5	112154851	112154851	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtattgttgggaaattcccgGggcagtaaagaggctcgggc	16	7	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.chr5:112154851G>T	ENST00000457016.1	+	10	1502	c.1122G>T	c.(1120-1122)cgG>cgT	p.R374R	APC_ENST00000257430.4_Silent_p.R374R|APC_ENST00000508376.2_Silent_p.R374R			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-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)			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)		GAAATTCCCGGGGCAGTAAAG	0.512		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"		0				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.(1120-1122)cgG>cgT		adenomatous polyposis coli							65	61	62					5																	112154851		2202	4300	6502	SO:0001819	synonymous_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.chr5:112154851G>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.1122G>T	5.37:g.112154851G>T		TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Silent_p.R374R|APC_ENST00000257430.4_Silent_p.R374R	p.R374R			WXS	Illumina GAIIx	Phase_I	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)	10	1502	+		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)	374			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.1122G>T	CCDS4107.1																																																																																				0.512	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		4	101	4	101	---	---	---	---	T	112154851	G	T	112154851	2	4	66	1	0	0	0	0	0	0	0	1	763	1219	43	1		1	APC	5	112154851	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	17087225	112154851	68760409	54	3137										
HARS	3035	broad.mit.edu	37	chr5	140056698	140056698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgttccaccagggataccCcacctggggagacagacttg	12	13	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.chr5:140056698C>A	ENST00000504156.1	-	9	1546	c.827G>T	c.(826-828)gGg>gTg	p.G276V	HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504366.1_Missense_Mutation_p.G207V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	276					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)	CAGGGATACCCCACCTGGGGA	0.532																																						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.(619-621)gGg>gTg		histidyl-tRNA synthetase	L-Histidine(DB00117)						149	159	156					5																	140056698		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056698C>A	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.827G>T	5.37:g.140056698C>A	ENSP00000425634:p.Gly276Val		Somatic				HARS_ENST00000438307.2_Missense_Mutation_p.G236V|HARS_ENST00000431330.2_Missense_Mutation_p.G162V|HARS_ENST00000457527.2_Missense_Mutation_p.G256V|HARS_ENST00000504156.1_Missense_Mutation_p.G276V|HARS_ENST00000307633.3_Missense_Mutation_p.G216V|HARS_ENST00000448240.1_Missense_Mutation_p.G81V|HARS_ENST00000415192.2_Missense_Mutation_p.G202V	p.G207V			WXS	Illumina GAIIx	Phase_I	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	2439	-			276					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.620G>T	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776859	0.70107	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	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	5.11	4.24	0.50183	Aminoacyl-tRNA synthetase, class II (1);	0.095665	0.64402	D	0.000001	T	0.65544	0.2701	M	0.81239	2.535	0.80722	D	1	D;B;D;D;D;P;P;P	0.89917	1.0;0.367;0.965;0.986;0.973;0.749;0.934;0.899	D;B;D;P;P;P;P;P	0.91635	0.999;0.309;0.922;0.903;0.903;0.58;0.903;0.703	T	0.71038	-0.4708	10	0.62326	D	0.03	-6.823	14.1267	0.65225	0.0:0.9275:0.0:0.0725	.	166;162;202;216;236;276;256;276	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	V	276;256;162;207;216;81;236;202;166	ENSP00000425634:G276V;ENSP00000387893:G256V;ENSP00000393244:G162V;ENSP00000430063:G207V;ENSP00000304668:G216V;ENSP00000413605:G81V;ENSP00000411511:G236V;ENSP00000411085:G202V;ENSP00000425889:G166V	ENSP00000304668:G216V	G	-	2	0	HARS	140036882	1.000000	0.71417	0.960000	0.40013	0.501000	0.33797	5.426000	0.66476	1.517000	0.48917	0.563000	0.77884	GGG		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		7	465	7	465	---	---	---	---	A	140056698	C	A	140056698	3	1	66	1	0	0	0	0	1	0	0	0	6959	623	22	1	722	1	HARS	5	140056698	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	27901847	140056698	40858562	55	3138										
ADRB2	154	broad.mit.edu	37	chr5	148207351	148207351	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggataggctatgtcaattcTggtttcaatccccttatcta	7	9	4	0			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			Somatic					p.S319S	NM_000024.5	NP_000015	WXS	Illumina GAIIx	Phase_I	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	15	142	---	---	---	---	G	148207351	T	G	148207351	2	3	66	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	8150653	148207351	32707909	56	3139										
AFAP1L1	134265	broad.mit.edu	37	chr5	148691735	148691735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtggaggtccccagatccCcagtcctcctgtgcaagttg	12	13	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.chr5:148691735C>A	ENST00000296721.4	+	9	1086	c.988C>A	c.(988-990)Cca>Aca	p.P330T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	330						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)			CCCCAGATCCCCAGTCCTCCT	0.597																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(988-990)Cca>Aca		actin filament associated protein 1-like 1							115	107	110					5																	148691735		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148691735C>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.988C>A	5.37:g.148691735C>A	ENSP00000296721:p.Pro330Thr		Somatic				AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P330T	p.P330T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	WXS	Illumina GAIIx	Phase_I	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1086	+			330					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.988C>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214901	0.58452	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.17691	2.28;2.26	6.04	6.04	0.98038	.	0.050922	0.85682	D	0.000000	T	0.45577	0.1349	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.994;0.922;0.998	T	0.16719	-1.0393	10	0.59425	D	0.04	-3.7591	20.5792	0.99380	0.0:1.0:0.0:0.0	.	330;330;330	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	T	330	ENSP00000296721:P330T;ENSP00000424427:P330T	ENSP00000296721:P330T	P	+	1	0	AFAP1L1	148671928	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.008000	0.63991	2.873000	0.98535	0.561000	0.74099	CCA		0.597	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		6	259	6	259	---	---	---	---	A	148691735	C	A	148691735	3	1	66	1	0	0	0	0	1	0	0	0	354	623	22	1	1022	1	AFAP1L1	5	148691735	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	484384	148691735	32223525	57	3140										
LARP1	23367	broad.mit.edu	37	chr5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acattacatgcgccggcaccCagggggggaccgcacaggca	14	14	0	0			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		Somatic					p.P580Q	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	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	6	196	---	---	---	---	A	154181820	C	A	154181820	3	1	66	1	0	0	0	0	1	0	0	0	8628	594	21	1	1781	1	LARP1	5	154181820	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5490085	154181820	26733440	58	3141										
HAVCR1	26762	broad.mit.edu	37	chr5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	agagacagttgttgtcactgGaacacttgttgttgttggaa	12	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.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000544197.1_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		Somatic				HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S	p.P203S	NM_012206.2	NP_036338.2	WXS	Illumina GAIIx	Phase_I	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	67	448	---	---	---	---	A	156479438	G	A	156479438	3	1	66	1	0	0	0	0	1	0	0	0	6973	1174	41	2	511	2	HAVCR1	5	156479438	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	2297618	156479438	24435822	59	3142										
LCP2	3937	broad.mit.edu	37	chr5	169677742	169677742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaatccttacctctttccCtcggagtccagttcccaaca	5	15	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.chr5:169677742C>A	ENST00000046794.5	-	20	2086	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W	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)		ACCTCTTTCCCTCGGAGTCCA	0.413																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1471-1473)Ggg>Tgg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							127	120	122					5																	169677742		1896	4103	5999	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169677742C>A		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.1471G>T	5.37:g.169677742C>A	ENSP00000046794:p.Gly491Trp		Somatic				C5orf58_ENST00000517575.1_Intron|LCP2_ENST00000521416.1_Missense_Mutation_p.G286W	p.G491W	NM_005565.3	NP_005556.1	WXS	Illumina GAIIx	Phase_I	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	2086	-	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	Missense_Mutation	SNP	ENST00000046794.5	37	c.1471G>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264236	0.80358	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	D;D	0.89415	-2.51;-2.51	5.53	5.53	0.82687	SH2 motif (4);	0.198269	0.43416	D	0.000566	D	0.95529	0.8547	M	0.90650	3.135	0.58432	D	0.999999	D;D	0.69078	0.997;0.971	D;P	0.74348	0.983;0.886	D	0.96123	0.9086	10	0.87932	D	0	-17.1112	18.0335	0.89292	0.0:1.0:0.0:0.0	.	286;491	E7ESF6;Q13094	.;LCP2_HUMAN	W	491;286	ENSP00000046794:G491W;ENSP00000428871:G286W	ENSP00000046794:G491W	G	-	1	0	LCP2	169610320	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.301000	0.72782	2.611000	0.88343	0.462000	0.41574	GGG		0.413	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		4	159	4	159	---	---	---	---	A	169677742	C	A	169677742	3	1	66	1	0	0	0	0	1	0	0	0	8692	681	24	1	138	1	LCP2	5	169677742	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	13198304	169677742	11237518	60	3143										
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821588	171821588	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacagtattcatcaattggTatcaggcgtttgacagccac	8	9	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.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			Somatic				SH3PXD2B_ENST00000519643.1_Silent_p.I96I	p.I96I	NM_001017995.2	NP_001017995.1	WXS	Illumina GAIIx	Phase_I	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	9	67	---	---	---	---	G	171821588	T	G	171821588	2	3	66	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	2143846	171821588	9093672	61	3144										
TRIM38	10475	broad.mit.edu	37	chr6	25983518	25983518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggagatttactgccttccCctgtgtcttgggttgtgaag	12	9	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.chr6:25983518C>A	ENST00000357085.3	+	8	1477	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|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)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						ACTGCCTTCCCCTGTGTCTTG	0.478																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1000-1002)cCc>cAc		tripartite motif containing 38							117	114	115					6																	25983518		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983518C>A	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1001C>A	6.37:g.25983518C>A	ENSP00000349596:p.Pro334His		Somatic				TRIM38_ENST00000349458.3_Missense_Mutation_p.P334H	p.P334H	NM_006355.3	NP_006346.1	WXS	Illumina GAIIx	Phase_I	O00635	TRI38_HUMAN			8	1477	+			334			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1001C>A	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	9.877	1.200465	0.22121	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.14516	2.5;2.5;2.5	4.16	0.0789	0.14413	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.297602	0.24608	N	0.037067	T	0.05318	0.0141	M	0.75264	2.295	0.20638	N	0.99987	P;P	0.36768	0.569;0.569	B;B	0.30316	0.114;0.114	T	0.18493	-1.0335	10	0.87932	D	0	.	7.8805	0.29618	0.2956:0.269:0.4353:0.0	.	334;334	B2R862;O00635	.;TRI38_HUMAN	H	334	ENSP00000443976:P334H;ENSP00000230099:P334H;ENSP00000349596:P334H	ENSP00000230099:P334H	P	+	2	0	TRIM38	26091497	0.000000	0.05858	0.111000	0.21465	0.114000	0.19823	-0.160000	0.10041	-0.004000	0.14419	-0.282000	0.10007	CCC		0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			6	200	6	200	---	---	---	---	A	25983518	C	A	25983518	3	1	66	1	0	0	0	0	1	0	0	0	16509	623	22	1	1023	1	TRIM38	6	25983518	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		25983518	145131549	62	3145										
MDC1	9656	broad.mit.edu	37	chr6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggtggctggactccagGggtcacatagatctcatagc	14	9	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.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2. {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						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6013-6015)Cct>Act	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							134	129	131					6																	30670419		1510	2709	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.chr6:30670419G>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.6013C>A	6.37:g.30670419G>T	ENSP00000365588:p.Pro2005Thr		Somatic				MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	p.P2005T	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			14	6660	-			2005			BRCT 2.|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.6013C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892431	0.72524	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.89746	-2.56;-2.56	5.88	4.97	0.65823	BRCT (2);	0.000000	0.35555	N	0.003121	D	0.93314	0.7869	M	0.80183	2.485	0.39444	D	0.967295	D;D	0.89917	0.977;1.0	P;D	0.75020	0.848;0.985	D	0.93624	0.6950	10	0.72032	D	0.01	-13.8612	14.2819	0.66219	0.0:0.1498:0.8502:0.0	.	2005;982	Q14676;Q14676-4	MDC1_HUMAN;.	T	2005;1741;1718;1571	ENSP00000365588:P2005T;ENSP00000365587:P1741T	ENSP00000365587:P1741T	P	-	1	0	MDC1	30778398	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.035000	0.49759	2.800000	0.96347	0.650000	0.86243	CCT		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	276	6	276	---	---	---	---	T	30670419	G	T	30670419	3	4	66	1	0	0	0	0	1	0	0	0	9403	1232	43	1	264	1	MDC1	6	30670419	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	4686901	30670419	140444648	63	3146										
MSH5	4439	broad.mit.edu	37	chr6	31727926	31727926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactccacagaatgtggtgGggacaaagggagggtcaaag	15	7	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.chr6:31727926G>T	ENST00000375755.3	+	19	2031	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.G599V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	582					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						GAATGTGGTGGGGACAAAGGG	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1795-1797)gGg>gTg									105	103	104					6																	31727926		2203	4300	6503	SO:0001583	missense	100532732							g.chr6:31727926G>T	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.1745G>T	6.37:g.31727926G>T	ENSP00000364908:p.Gly582Val		Somatic				MSH5_ENST00000375750.3_Missense_Mutation_p.G582V|MSH5_ENST00000375742.3_Missense_Mutation_p.G599V|MSH5_ENST00000375740.3_Missense_Mutation_p.G599V|MSH5_ENST00000395853.1_Missense_Mutation_p.G256V|MSH5_ENST00000375703.3_Missense_Mutation_p.G582V|MSH5_ENST00000431848.2_Missense_Mutation_p.G281V|MSH5_ENST00000534153.4_Missense_Mutation_p.G599V|MSH5_ENST00000375755.3_Missense_Mutation_p.G582V	p.G599V			WXS	Illumina GAIIx	Phase_I					19	1852	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1796G>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301234	0.40694	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	6.06	4.27	0.50696	DNA mismatch repair protein MutS, C-terminal (1);	0.266646	0.43110	D	0.000615	T	0.60196	0.2250	L	0.28458	0.855	0.33814	D	0.628257	B;B;B;B;B	0.30193	0.12;0.058;0.071;0.272;0.058	B;B;B;B;B	0.35182	0.053;0.031;0.078;0.197;0.109	T	0.56643	-0.7945	9	0.27082	T	0.32	-16.067	8.5761	0.33598	0.2353:0.0:0.7647:0.0	.	267;599;582;582;599	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	V	582;599;114;582;599;582;599;281;256	ENSP00000364908:G582V;ENSP00000364894:G599V;ENSP00000364903:G582V;ENSP00000431693:G599V;ENSP00000364855:G582V;ENSP00000364892:G599V;ENSP00000416784:G281V;ENSP00000379194:G256V	ENSP00000364855:G582V	G	+	2	0	MSH5	31835905	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.560000	0.53763	1.576000	0.49790	0.655000	0.94253	GGG		0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			5	259	5	259	---	---	---	---	T	31727926	G	T	31727926	3	4	66	1	0	0	0	0	1	0	0	0	9873	1232	43	1	1866	1	MSH5	6	31727926	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	1057507	31727926	139387141	64	3147										
WDR46	9277	broad.mit.edu	37	chr6	33256001	33256001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgtcttccccatcctccCcttccagaaacctgaaagca	5	17	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.chr6:33256001C>A	ENST00000374617.4	-	5	841	c.485G>T	c.(484-486)gGg>gTg	p.G162V	PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	162							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCATCCTCCCCTTCCAGAAA	0.488																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(484-486)gGg>gTg		WD repeat domain 46							257	249	251					6																	33256001		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33256001C>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.485G>T	6.37:g.33256001C>A	ENSP00000363746:p.Gly162Val		Somatic				WDR46_ENST00000477718.1_5'UTR	p.G162V	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	WXS	Illumina GAIIx	Phase_I	O15213	WDR46_HUMAN			5	841	-			162					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.485G>T	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632002	0.46944	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.21932	2.13;1.98	4.0	4.0	0.46444	.	0.056069	0.64402	D	0.000001	T	0.18383	0.0441	L	0.28458	0.855	0.80722	D	1	D;D	0.63046	0.968;0.992	P;P	0.59487	0.581;0.858	T	0.01613	-1.1312	10	0.38643	T	0.18	-20.646	13.6674	0.62405	0.0:1.0:0.0:0.0	.	108;162	B4DP15;O15213	.;WDR46_HUMAN	V	162;97	ENSP00000363746:G162V;ENSP00000405568:G97V	ENSP00000363746:G162V	G	-	2	0	WDR46	33363979	0.985000	0.35326	0.984000	0.44739	0.862000	0.49288	2.642000	0.46596	2.076000	0.62316	0.448000	0.29417	GGG		0.488	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		8	614	8	614	---	---	---	---	A	33256001	C	A	33256001	3	1	66	1	0	0	0	0	1	0	0	0	17296	623	22	1	1391	1	WDR46	6	33256001	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	1528075	33256001	137859066	65	3148										
FNDC1	84624	broad.mit.edu	37	chr6	159635999	159635999	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggaagtgcccaacaagccCttgcgtgtgcgtgtccggtc	13	12	0	0			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.chr6:159635999C>A	ENST00000297267.9	+	5	683	c.483C>A	c.(481-483)ccC>ccA	p.P161P	FNDC1_ENST00000340366.6_Silent_p.P161P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	161	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)		CCAACAAGCCCTTGCGTGTGC	0.537																																						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.(481-483)ccC>ccA		fibronectin type III domain containing 1							52	54	53					6																	159635999		2047	4186	6233	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159635999C>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.483C>A	6.37:g.159635999C>A			Somatic				FNDC1_ENST00000340366.6_Silent_p.P161P	p.P161P	NM_032532.2	NP_115921.2	WXS	Illumina GAIIx	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	5	683	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	161			Fibronectin type-III 2.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.483C>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409508	0.25378	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	3.02	0.34903	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	-36.9047	2.1847	0.03883	0.1964:0.2988:0.384:0.1209	.	.	.	.	I	120	.	.	L	+	1	0	FNDC1	159555987	0.459000	0.25768	0.998000	0.56505	0.999000	0.98932	0.008000	0.13197	0.900000	0.36469	0.655000	0.94253	CTT		0.537	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	63	4	63	---	---	---	---	A	159635999	C	A	159635999	2	1	66	1	0	0	0	0	0	0	0	1	5968	668	24	1		1	FNDC1	6	159635999	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	126379998	159635999	11479068	66	3149										
SFT2D1	113402	broad.mit.edu	37	chr6	166733745	166733745	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatttaataactgcatccCtggtggaaaagagagggaaa	11	6	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.chr6:166733745C>A	ENST00000361731.3	-	8	550		c.e8-1		SFT2D1_ENST00000487841.1_Splice_Site	NM_145169.1	NP_660152.1			SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AACTGCATCCCTGGTGGAAAA	0.353																																						ENST00000361731.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6						c.e8-1		SFT2 domain containing 1							66	61	63					6																	166733745		2203	4300	6503	SO:0001630	splice_region_variant	113402				protein transport|vesicle-mediated transport	integral to membrane		g.chr6:166733745C>A	AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 83"	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.441-1G>T	6.37:g.166733745C>A			Somatic				SFT2D1_ENST00000487841.1_Splice_Site		NM_145169.1	NP_660152.1	WXS	Illumina GAIIx	Phase_I	Q8WV19	SFT2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)	8	550	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)							Splice_Site	SNP	ENST00000361731.3	37		CCDS5292.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316419	0.40996	.	.	ENSG00000198818	ENST00000361731	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1772	0.65549	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFT2D1	166653735	1.000000	0.71417	0.980000	0.43619	0.517000	0.34286	2.780000	0.47742	2.410000	0.81850	0.491000	0.48974	.		0.353	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169	Intron	4	109	4	109	---	---	---	---	A	166733745	C	A	166733745	5	1	66	1	0	0	0	0	0	0	1	0	14185	695	24	1	43	1	SFT2D1	6	166733745	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	7097746	166733745	4381322	67	3150										
CALCR	799	broad.mit.edu	37	chr7	93065363	93065363	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaactggattcccagcagGggcacaaggatcatggtggc	13	10	1	0			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.chr7:93065363G>T	ENST00000394441.1	-	11	1365	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000359558.2_Silent_p.P384P|CALCR_ENST00000360249.4_Silent_p.P366P	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	384					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)	TTCCCAGCAGGGGCACAAGGA	0.498																																						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.(1150-1152)ccC>ccA		calcitonin receptor	Salmon Calcitonin(DB00017)						95	82	87					7																	93065363		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:93065363G>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.1050C>A	7.37:g.93065363G>T			Somatic				CALCR_ENST00000360249.4_Silent_p.P366P|CALCR_ENST00000421592.1_Silent_p.P366P|CALCR_ENST00000426151.1_Silent_p.P350P|CALCR_ENST00000394441.1_Silent_p.P350P	p.P384P	NM_001164737.1	NP_001158209.1	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		14	1451	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		366					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1152C>A	CCDS5631.1																																																																																				0.498	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		4	103	4	103	---	---	---	---	T	93065363	G	T	93065363	2	4	66	1	0	0	0	0	0	0	0	1	2579	1219	43	1		1	CALCR	7	93065363	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		93065363	66073300	68	3151										
MOSPD3	64598	broad.mit.edu	37	chr7	100210593	100210593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgctgaccctctataaccCcacaggaactgcgcttcgct	8	16	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.chr7:100210593C>A	ENST00000393950.2	+	1	461	c.179C>A	c.(178-180)cCc>cAc	p.P60H	MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	60	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)					CTCTATAACCCCACAGGAACT	0.647																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(178-180)cCc>cAc		motile sperm domain containing 3							57	65	62					7																	100210593		2202	4298	6500	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210593C>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.179C>A	7.37:g.100210593C>A	ENSP00000377522:p.Pro60His		Somatic				MOSPD3_ENST00000424091.2_Missense_Mutation_p.P60H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P60H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.P60H	p.P60H	NM_023948.4	NP_076438.1	WXS	Illumina GAIIx	Phase_I	O75425	MSPD3_HUMAN			1	461	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		60			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.179C>A	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251407	0.80135	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	3.99	3.99	0.46301	PapD-like (2);	0.000000	0.56097	D	0.000030	T	0.81763	0.4891	M	0.68952	2.095	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83857	0.0266	10	0.87932	D	0	-16.8353	14.404	0.67068	0.0:1.0:0.0:0.0	.	60;60	C9JE89;O75425	.;MSPD3_HUMAN	H	60;60;60;60;60;46	ENSP00000223054:P60H;ENSP00000417276:P60H;ENSP00000368842:P60H;ENSP00000377522:P60H;ENSP00000404626:P60H	ENSP00000223054:P60H	P	+	2	0	MOSPD3	100048529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.098000	0.57748	2.526000	0.85167	0.462000	0.41574	CCC		0.647	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		6	262	6	262	---	---	---	---	A	100210593	C	A	100210593	3	1	66	1	0	0	0	0	1	0	0	0	9717	623	22	1	181	1	MOSPD3	7	100210593	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	7145230	100210593	58928070	69	3152										
C7orf60	154743	broad.mit.edu	37	chr7	112555390	112555390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattcaatacgaccttcgccCtcacaagtttttgcccaatg	5	14	2	0			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.chr7:112555390C>A	ENST00000297145.4	-	2	438	c.273G>T	c.(271-273)gaG>gaT	p.E91D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	91							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GACCTTCGCCCTCACAAGTTT	0.348																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(271-273)gaG>gaT		chromosome 7 open reading frame 60							165	155	158					7																	112555390		1877	4117	5994	SO:0001583	missense	154743							g.chr7:112555390C>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.273G>T	7.37:g.112555390C>A	ENSP00000297145:p.Glu91Asp		Somatic				C7orf60_ENST00000485446.1_5'UTR	p.E91D	NM_152556.2	NP_689769.2	WXS	Illumina GAIIx	Phase_I	Q1RMZ1	CG060_HUMAN			2	438	-			91					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.273G>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655546	0.47467	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.51	-0.359	0.12571	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	L	0.50333	1.59	0.51767	D	0.999939	D;B	0.64830	0.994;0.158	D;B	0.70716	0.97;0.018	T	0.58691	-0.7592	9	0.38643	T	0.18	-13.0719	9.1409	0.36903	0.0:0.2674:0.0:0.7326	.	38;91	B4DST1;Q1RMZ1	.;CG060_HUMAN	D	91;73;38	.	ENSP00000297145:E91D	E	-	3	2	C7orf60	112342626	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	0.773000	0.26661	0.049000	0.15920	0.591000	0.81541	GAG		0.348	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		5	232	5	232	---	---	---	---	A	112555390	C	A	112555390	3	1	66	1	0	0	0	0	1	0	0	0	2407	680	24	1	960	1	C7orf60	7	112555390	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	12344797	112555390	46583273	70	3153										
LRGUK	136332	broad.mit.edu	37	chr7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttgattgaacagattgCtgagctgagagaaatagaat	10	4	1	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.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		Somatic					p.A315V	NM_144648.1	NP_653249.1	WXS	Illumina GAIIx	Phase_I	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	6	185	---	---	---	---	T	133859312	C	T	133859312	3	4	66	1	0	0	0	0	1	0	0	0	8943	797	28	2	974	2	LRGUK	7	133859312	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	21303922	133859312	25279351	71	3154										
RCL1	10171	broad.mit.edu	37	chr9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagttcatacctgatatctAtatttacacagatcacatga	4	9	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.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_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		Somatic				RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	p.Y224C	NM_005772.3	NP_005763.3	WXS	Illumina GAIIx	Phase_I	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	4	287	---	---	---	---	G	4841318	A	G	4841318	3	3	66	1	0	0	0	0	1	0	0	0	13178	449	16	2	693	2	RCL1	9	4841318	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		4841318	136372113	72	3155										
KDM4C	23081	broad.mit.edu	37	chr9	7103863	7103863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttcgacataaggtcaaccCcaacgtggtaagatgtgccc	9	12	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.chr9:7103863C>A	ENST00000381309.3	+	18	3168	c.2603C>A	c.(2602-2604)cCc>cAc	p.P868H	KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	868					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)			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						AAGGTCAACCCCAACGTGGTA	0.483																																						ENST00000381309.3																			0				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.(2602-2604)cCc>cAc		lysine (K)-specific demethylase 4C							152	111	125					9																	7103863		2203	4300	6503	SO:0001583	missense	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.chr9:7103863C>A	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.2603C>A	9.37:g.7103863C>A	ENSP00000370710:p.Pro868His		Somatic				KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Missense_Mutation_p.P555H|KDM4C_ENST00000442236.2_Missense_Mutation_p.P613H|KDM4C_ENST00000381306.3_Missense_Mutation_p.P868H	p.P868H	NM_015061.3	NP_055876.2	WXS	Illumina GAIIx	Phase_I	Q9H3R0	KDM4C_HUMAN			18	3168	+			868					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.2603C>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469177	0.43839	.	.	ENSG00000107077	ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T	0.15952	2.47;2.38;2.69;3.45;2.75	5.91	3.9	0.45041	.	0.560449	0.20119	N	0.098846	T	0.16685	0.0401	L	0.29908	0.895	0.27168	N	0.961	P;P;P	0.46395	0.877;0.694;0.875	B;B;P	0.45681	0.358;0.388;0.49	T	0.03945	-1.0990	10	0.54805	T	0.06	-14.79	12.2275	0.54468	0.5544:0.4456:0.0:0.0	.	613;868;868	E7EV17;Q9H3R0;Q9H3R0-2	.;KDM4C_HUMAN;.	H	868;868;613;555;212	ENSP00000370710:P868H;ENSP00000370707:P868H;ENSP00000409353:P613H;ENSP00000405739:P555H;ENSP00000400127:P212H	ENSP00000370707:P868H	P	+	2	0	KDM4C	7093863	0.974000	0.33945	0.905000	0.35620	0.388000	0.30384	3.314000	0.51943	1.468000	0.48064	0.655000	0.94253	CCC		0.483	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		4	121	4	121	---	---	---	---	A	7103863	C	A	7103863	3	1	66	1	0	0	0	0	1	0	0	0	8130	623	22	1	2761	1	KDM4C	9	7103863	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	2262545	7103863	134109568	73	3156										
PTPRD	5789	broad.mit.edu	37	chr9	8460552	8460552	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccacggggtcggagtaaGggctggttgcatacatcttc	13	10	1	0			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.chr9:8460552G>T	ENST00000381196.4	-	30	4277	c.3734C>A	c.(3733-3735)cCt>cAt	p.P1245H	PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1245					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)		GTCGGAGTAAGGGCTGGTTGC	0.433										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.(3733-3735)cCt>cAt		protein tyrosine phosphatase, receptor type, D							115	107	110					9																	8460552		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.chr9:8460552G>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.3734C>A	9.37:g.8460552G>T	ENSP00000370593:p.Pro1245His	TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000397606.3_Missense_Mutation_p.P824H|PTPRD_ENST00000537002.1_Missense_Mutation_p.P831H|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1245H|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1245H|PTPRD_ENST00000486161.1_Missense_Mutation_p.P834H|PTPRD_ENST00000397617.3_Missense_Mutation_p.P824H|PTPRD_ENST00000397611.3_Missense_Mutation_p.P831H|PTPRD_ENST00000355233.5_Missense_Mutation_p.P834H|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1223H|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1232H	p.P1245H	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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)	30	4277	-		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)	1245					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3734C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838990	0.71373	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.89	4.98	0.66077	.	0.102964	0.64402	N	0.000002	T	0.76234	0.3959	M	0.87456	2.885	0.80722	D	1	D;B;B;B;D;B;P;D;D	0.89917	0.998;0.005;0.005;0.005;1.0;0.008;0.943;0.978;0.992	P;B;B;B;D;B;P;P;D	0.85130	0.879;0.005;0.004;0.004;0.997;0.008;0.731;0.826;0.933	T	0.80728	-0.1253	9	.	.	.	.	15.9743	0.80049	0.0:0.0:0.8641:0.1359	.	824;829;834;834;831;831;1232;1245;1245	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1245;1245;1232;1223;834;824;831;831;716;1245;834;824	ENSP00000370593:P1245H;ENSP00000348812:P1245H;ENSP00000353187:P1232H;ENSP00000351293:P1223H;ENSP00000347373:P834H;ENSP00000380741:P824H;ENSP00000380735:P831H;ENSP00000440515:P831H;ENSP00000438164:P1245H;ENSP00000417093:P834H;ENSP00000380731:P824H	.	P	-	2	0	PTPRD	8450552	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	9.444000	0.97578	1.452000	0.47756	0.557000	0.71058	CCT		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	143	4	143	---	---	---	---	T	8460552	G	T	8460552	3	4	66	1	0	0	0	0	1	0	0	0	12799	1000	35	1	2125	1	PTPRD	9	8460552	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	1356689	8460552	132752879	74	3157										
NDUFB6	4712	broad.mit.edu	37	chr9	32573053	32573053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctcatccggagtgtacccCgtcatgtcgccgctggtacc	10	15	2	0			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.chr9:32573053C>A	ENST00000379847.3	-	1	107	c.6G>T	c.(4-6)acG>acT	p.T2T	NDUFB6_ENST00000350021.2_Silent_p.T2T	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	2					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GAGTGTACCCCGTCATGTCGC	0.627											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379847.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8						c.(4-6)acG>acT		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	NADH(DB00157)						31	27	28					9																	32573053		2197	4297	6494	SO:0001819	synonymous_variant	4712				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:32573053C>A	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"Mitochondrial respiratory chain complex / Complex I"	7701	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit"	603322	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.6G>T	9.37:g.32573053C>A			Somatic	OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	833	NDUFB6_ENST00000350021.2_Silent_p.T2T	p.T2T	NM_002493.4	NP_002484.1	WXS	Illumina GAIIx	Phase_I	O95139	NDUB6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	1	107	-			2					A8K0Y7|Q5VYT2|Q6IB84	Silent	SNP	ENST00000379847.3	37	c.6G>T	CCDS6528.1																																																																																				0.627	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		3	40	3	40	---	---	---	---	A	32573053	C	A	32573053	2	1	66	1	0	0	0	0	0	0	0	1	10285	639	23	1		1	NDUFB6	9	32573053	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	24112501	32573053	108640378	75	3158										
GBA2	57704	broad.mit.edu	37	chr9	35748483	35748483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtagcccatagctttaccCtcataggaaaccatcagctg	8	12	2	0			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.chr9:35748483C>A	ENST00000378103.3	-	1	742	c.219G>T	c.(217-219)gaG>gaT	p.E73D	GBA2_ENST00000545786.1_Missense_Mutation_p.E73D|RGP1_ENST00000456972.2_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.E73D|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	73					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)			TAGCTTTACCCTCATAGGAAA	0.532																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(217-219)gaG>gaT		glucosidase, beta (bile acid) 2							112	113	113					9																	35748483		2203	4300	6503	SO:0001583	missense	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.chr9:35748483C>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.219G>T	9.37:g.35748483C>A	ENSP00000367343:p.Glu73Asp		Somatic				GBA2_ENST00000378103.3_Missense_Mutation_p.E73D|GBA2_ENST00000545786.1_Missense_Mutation_p.E73D	p.E73D			WXS	Illumina GAIIx	Phase_I	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	732	-	all_epithelial(49;0.167)		73					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.219G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588937	0.86851	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	4.2	0.49525	.	0.132116	0.51477	D	0.000086	T	0.34919	0.0914	L	0.47716	1.5	0.28923	N	0.892029	P;P;P	0.42409	0.664;0.779;0.534	B;B;B	0.39258	0.295;0.295;0.154	T	0.30966	-0.9960	9	0.42905	T	0.14	-25.9633	10.7039	0.45944	0.0:0.8405:0.0:0.1595	.	73;73;73	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	D	73	.	ENSP00000367334:E73D	E	-	3	2	GBA2	35738483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.736000	0.38187	1.520000	0.48965	0.591000	0.81541	GAG		0.532	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		6	385	6	385	---	---	---	---	A	35748483	C	A	35748483	3	1	66	1	0	0	0	0	1	0	0	0	6267	680	24	1	2632	1	GBA2	9	35748483	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	3175430	35748483	105464948	76	3159										
C9orf79	286234	broad.mit.edu	37	chr9	90501022	90501022	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggggtgctcttctccaccCcagattaggggctgtggggc	15	12	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.chr9:90501022C>A	ENST00000325643.5	+	4	1686	c.1620C>A	c.(1618-1620)ccC>ccA	p.P540P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	540					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCTCCACCCCAGATTAGGG	0.607																																						ENST00000325643.5																			0											c.(1618-1620)ccC>ccA		SPATA31 subfamily E, member 1							69	73	72					9																	90501022		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90501022C>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.1620C>A	9.37:g.90501022C>A			Somatic					p.P540P	NM_178828.4	NP_849150.3	WXS	Illumina GAIIx	Phase_I					4	1686	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1620C>A	CCDS6676.1																																																																																				0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	260	6	260	---	---	---	---	A	90501022	C	A	90501022	2	1	66	1	0	0	0	0	0	0	0	1	2497	610	22	1		1	C9orf79	9	90501022	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	54752539	90501022	50712409	77	3160										
OR2K2	26248	broad.mit.edu	37	chr9	114089857	114089857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttaaactgtaaattatgGggttcaacataggggtaagc	10	5	2	0			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.chr9:114089857G>T	ENST00000374428.1	-	1	943	c.944C>A	c.(943-945)cCc>cAc	p.P315H	OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, 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)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAAATTATGGGGTTCAACAT	0.388																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(943-945)cCc>cAc		olfactory receptor, family 2, subfamily K, member 2							120	111	114					9																	114089857		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089857G>T	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.944C>A	9.37:g.114089857G>T	ENSP00000363550:p.Pro315His		Somatic				OR2K2_ENST00000302681.1_Missense_Mutation_p.P286H	p.P315H			WXS	Illumina GAIIx	Phase_I	Q8NGT1	OR2K2_HUMAN			1	943	-			315					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.944C>A		.	.	.	.	.	.	.	.	.	.	G	17.87	3.495285	0.64186	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.64260	-0.09;-0.09	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001124	T	0.81465	0.4828	M	0.87971	2.92	0.45676	D	0.998591	D	0.89917	1.0	D	0.91635	0.999	D	0.84779	0.0772	10	0.87932	D	0	.	15.6607	0.77186	0.0:0.0:1.0:0.0	.	315	Q8NGT1	OR2K2_HUMAN	H	286;315	ENSP00000305055:P286H;ENSP00000363550:P315H	ENSP00000305055:P286H	P	-	2	0	OR2K2	113129678	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.207000	0.95064	2.636000	0.89361	0.591000	0.81541	CCC		0.388	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		5	224	5	224	---	---	---	---	T	114089857	G	T	114089857	3	4	66	1	0	0	0	0	1	0	0	0	11005	1232	43	1	96	1	OR2K2	9	114089857	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	23588835	114089857	27123574	78	3161										
SURF4	6836	broad.mit.edu	37	chr9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_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	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)accfs		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		Somatic				SURF4_ENST00000545297.1_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs|SURF4_ENST00000485435.2_Intron	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	WXS	Illumina GAIIx	Phase_I	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	66	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	22141891	136231748	4981683	79	3162										
ADAMTS13	11093	broad.mit.edu	37	chr9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctttgtccacgcaggtctgAtggagctgcgtttcctgtgc	13	11	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.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L	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		Somatic				ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	p.M913L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina GAIIx	Phase_I	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	8	345	---	---	---	---	C	136313725	A	C	136313725	3	2	66	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	80	3163										
UAP1L1	91373	broad.mit.edu	37	chr9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgcaccgctcgccaggcccTgctcacccagcactaccggt	9	21	1	0			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		Somatic				UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	p.L427Q	NM_207309.2	NP_997192.2	WXS	Illumina GAIIx	Phase_I	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	4	92	---	---	---	---	A	139975242	T	A	139975242	3	1	66	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	81	3164										
C10orf18	54906	broad.mit.edu	37	chr10	5772512	5772512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatacctattttatctaccCttaattgtgccctgctagaa	5	10	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.chr10:5772512C>A	ENST00000328090.5	+	11	1175	c.550C>A	c.(550-552)Ctt>Att	p.L184I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	184																	TTTATCTACCCTTAATTGTGC	0.353																																						ENST00000328090.5																			0											c.(550-552)Ctt>Att		family with sequence similarity 208, member B							98	90	93					10																	5772512		1830	4093	5923	SO:0001583	missense	54906							g.chr10:5772512C>A	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.550C>A	10.37:g.5772512C>A	ENSP00000328426:p.Leu184Ile		Somatic				RP11-336A10.2_ENST00000411512.2_RNA	p.L184I	NM_017782.4	NP_060252	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			11	1175	+			184					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.550C>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818595	0.71028	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.16324	2.35	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000030	T	0.45236	0.1332	M	0.75264	2.295	0.36546	D	0.87155	D	0.89917	1.0	D	0.87578	0.998	T	0.50625	-0.8806	10	0.87932	D	0	.	18.1519	0.89677	0.0:1.0:0.0:0.0	.	184	Q5VWN6	F208B_HUMAN	I	184	ENSP00000328426:L184I	ENSP00000328426:L184I	L	+	1	0	C10orf18	5812518	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	2.231000	0.43009	2.826000	0.97356	0.563000	0.77884	CTT		0.353	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	204	6	204	---	---	---	---	A	5772512	C	A	5772512	3	1	66	1	0	0	0	0	1	0	0	0	1596	681	24	1	580	1	C10orf18	10	5772512	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		5772512	129762235	82	3165										
C10orf18	54906	broad.mit.edu	37	chr10	5782210	5782210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaagcagcaaccccagtgGggaaagtcatgccatttcgg	12	11	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.chr10:5782210G>T	ENST00000328090.5	+	13	2702	c.2077G>T	c.(2077-2079)Ggg>Tgg	p.G693W	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	693																	AACCCCAGTGGGGAAAGTCAT	0.537																																						ENST00000328090.5																			0											c.(2077-2079)Ggg>Tgg		family with sequence similarity 208, member B							89	91	91					10																	5782210		1866	4099	5965	SO:0001583	missense	54906							g.chr10:5782210G>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.2077G>T	10.37:g.5782210G>T	ENSP00000328426:p.Gly693Trp		Somatic				RP11-336A10.2_ENST00000411512.2_RNA	p.G693W	NM_017782.4	NP_060252	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			13	2702	+			693					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2077G>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582989	0.65992	.	.	ENSG00000108021	ENST00000328090	D	0.97976	-4.64	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	D	0.98598	0.9531	M	0.75447	2.3	0.44880	D	0.997894	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.87932	D	0	.	17.9025	0.88909	0.0:0.0:1.0:0.0	.	693	Q5VWN6	F208B_HUMAN	W	693	ENSP00000328426:G693W	ENSP00000328426:G693W	G	+	1	0	C10orf18	5822216	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.265000	0.72534	2.758000	0.94735	0.591000	0.81541	GGG		0.537	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	280	6	280	---	---	---	---	T	5782210	G	T	5782210	3	4	66	1	0	0	0	0	1	0	0	0	1596	1232	43	1	2115	1	C10orf18	10	5782210	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	9698	5782210	129752537	83	3166										
SGPL1	8879	broad.mit.edu	37	chr10	72629558	72629558	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcatttagtgtggctccCcaaagtgcccatgctgcatt	9	12	1	0			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.chr10:72629558C>A	ENST00000373202.3	+	9	914	c.714C>A	c.(712-714)ccC>ccA	p.P238P		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	238					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						GTGTGGCTCCCCAAAGTGCCC	0.448																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.(712-714)ccC>ccA		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						93	89	91					10																	72629558		2203	4300	6503	SO:0001819	synonymous_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.chr10:72629558C>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.714C>A	10.37:g.72629558C>A			Somatic					p.P238P	NM_003901.3	NP_003892.2	WXS	Illumina GAIIx	Phase_I	O95470	SGPL1_HUMAN			9	914	+			238					B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	c.714C>A	CCDS31216.1																																																																																				0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		4	132	4	132	---	---	---	---	A	72629558	C	A	72629558	2	1	66	1	0	0	0	0	0	0	0	1	14218	610	22	1		1	SGPL1	10	72629558	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	66847348	72629558	62905189	84	3167										
FAM196A	642938	broad.mit.edu	37	chr10	128973760	128973760	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggccagggcagtttccgaGggcgcctggagcccgttgag	17	12	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.chr10:128973760G>T	ENST00000522781.1	-	4	1455	c.900C>A	c.(898-900)ccC>ccA	p.P300P	FAM196A_ENST00000424811.2_Silent_p.P300P|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	300										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						CAGTTTCCGAGGGCGCCTGGA	0.667																																						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.(898-900)ccC>ccA		family with sequence similarity 196, member A							32	35	33					10																	128973760		2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973760G>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.900C>A	10.37:g.128973760G>T			Somatic				DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P300P	p.P300P	NM_001039762.2	NP_001034851.1	WXS	Illumina GAIIx	Phase_I	Q6ZSG2	F196A_HUMAN			4	1455	-			300					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.900C>A	CCDS31312.1																																																																																				0.667	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	135	4	135	---	---	---	---	T	128973760	G	T	128973760	2	4	66	1	0	0	0	0	0	0	0	1	5528	987	35	1		1	FAM196A	10	128973760	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	56344202	128973760	6560987	85	3168										
RAG1	5896	broad.mit.edu	37	chr11	36596905	36596905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctcattgctgagagggaggCcatgaagagcagtgaattaa	13	6	1	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.chr11:36596905C>A	ENST00000299440.5	+	2	2163	c.2051C>A	c.(2050-2052)gCc>gAc	p.A684D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	684					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)				GAGAGGGAGGCCATGAAGAGC	0.512									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.(2050-2052)gCc>gAc		recombination activating gene 1							56	52	53					11																	36596905		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.chr11:36596905C>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.2051C>A	11.37:g.36596905C>A	ENSP00000299440:p.Ala684Asp		Somatic					p.A684D	NM_000448.2	NP_000439	WXS	Illumina GAIIx	Phase_I	P15918	RAG1_HUMAN			2	2163	+	all_lung(20;0.226)	all_hematologic(20;0.107)	684					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2051C>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433695	0.83776	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87887	-2.31;-2.31	5.98	5.98	0.97165	.	0.054214	0.64402	D	0.000001	D	0.95351	0.8491	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95401	0.8490	10	0.87932	D	0	.	20.5176	0.99214	0.0:1.0:0.0:0.0	.	684	P15918	RAG1_HUMAN	D	684	ENSP00000434610:A684D;ENSP00000299440:A684D	ENSP00000299440:A684D	A	+	2	0	RAG1	36553481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.648000	0.67930	2.852000	0.98041	0.644000	0.83932	GCC		0.512	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	85	4	85	---	---	---	---	A	36596905	C	A	36596905	3	1	66	1	0	0	0	0	1	0	0	0	13003	739	26	3	2053	3	RAG1	11	36596905	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		36596905	98409611	86	3169										
MAP6	4135	broad.mit.edu	37	chr11	75298701	75298701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggactatgggaccttcaccCttgacaggtgctgggactat	13	10	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.chr11:75298701C>A	ENST00000304771.3	-	4	2595	c.1845G>T	c.(1843-1845)aaG>aaT	p.K615N	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	615	Pro-rich.				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)				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)					GACCTTCACCCTTGACAGGTG	0.542																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1843-1845)aaG>aaT		microtubule-associated protein 6							171	151	158					11																	75298701		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298701C>A	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.1845G>T	11.37:g.75298701C>A	ENSP00000307093:p.Lys615Asn		Somatic				MAP6_ENST00000526740.1_Missense_Mutation_p.K286N|CTD-2530H12.4_ENST00000527803.1_RNA	p.K615N	NM_033063.1	NP_149052.1	WXS	Illumina GAIIx	Phase_I	Q96JE9	MAP6_HUMAN			4	2595	-	Ovarian(111;0.11)		615			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1845G>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448949	0.26074	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.47869	0.83	4.33	3.42	0.39159	.	.	.	.	.	T	0.54647	0.1871	L	0.58810	1.83	0.21473	N	0.999673	D	0.64830	0.994	P	0.53266	0.722	T	0.45659	-0.9246	9	0.62326	D	0.03	.	10.8148	0.46569	0.0:0.9024:0.0:0.0976	.	615	Q96JE9	MAP6_HUMAN	N	615;286;286	ENSP00000307093:K615N	ENSP00000307093:K615N	K	-	3	2	MAP6	74976349	0.000000	0.05858	0.010000	0.14722	0.062000	0.15995	-0.082000	0.11304	1.176000	0.42840	0.435000	0.28638	AAG		0.542	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		7	377	7	377	---	---	---	---	A	75298701	C	A	75298701	3	1	66	1	0	0	0	0	1	0	0	0	9264	680	24	1	600	1	MAP6	11	75298701	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	38701796	75298701	59707815	87	3170										
NPAT	4863	broad.mit.edu	37	chr11	108047756	108047756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagagtgcctgaaatgctGggtctgattctgtctgttcc	11	9	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.chr11:108047756G>T	ENST00000278612.8	-	11	1073	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	323	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)		CTGAAATGCTGGGTCTGATTC	0.388																																						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.(967-969)cCa>cAa		nuclear protein, ataxia-telangiectasia locus							121	117	118					11																	108047756		1894	4112	6006	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.chr11:108047756G>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.968C>A	11.37:g.108047756G>T	ENSP00000278612:p.Pro323Gln		Somatic				NPAT_ENST00000610253.1_5'UTR	p.P323Q	NM_002519.2	NP_002510.2	WXS	Illumina GAIIx	Phase_I	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)	11	1073	-		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)	323			Mediates transcriptional activation.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.968C>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997760	0.93227	.	.	ENSG00000149308	ENST00000278612	T	0.37411	1.2	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62927	-0.6750	10	0.87932	D	0	-16.9688	19.8696	0.96845	0.0:0.0:1.0:0.0	.	323;323	B9EG70;Q14207	.;NPAT_HUMAN	Q	323	ENSP00000278612:P323Q	ENSP00000278612:P323Q	P	-	2	0	NPAT	107552966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.360000	0.97119	2.687000	0.91594	0.655000	0.94253	CCA		0.388	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		4	154	4	154	---	---	---	---	T	108047756	G	T	108047756	3	4	66	1	0	0	0	0	1	0	0	0	10566	1348	47	1	3347	1	NPAT	11	108047756	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	32749055	108047756	26958760	88	3171										
GRIK4	2900	broad.mit.edu	37	chr11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcttttcccagaattcccGctaccagacctaccaacgca	5	16	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.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		Somatic				GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H	p.R683H	NM_001282470.1	NP_001269399.1	WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	A	120833172	G	A	120833172	3	1	66	1	0	0	0	0	1	0	0	0	6776	1087	38	2	2110	2	GRIK4	11	120833172	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12785416	120833172	14173344	89	3172										
HSPA8	3312	broad.mit.edu	37	chr11	122929117	122929117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttggatgacaccttgtccCtctgcttctcatcttcagct	6	14	5	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.chr11:122929117C>A	ENST00000532636.1	-	8	1717	c.1598G>T	c.(1597-1599)aGg>aTg	p.R533M	HSPA8_ENST00000534624.1_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	533					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)		CACCTTGTCCCTCTGCTTCTC	0.423																																					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.(1597-1599)aGg>aTg		heat shock 70kDa protein 8							134	124	127					11																	122929117		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.chr11:122929117C>A	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.1598G>T	11.37:g.122929117C>A	ENSP00000437125:p.Arg533Met		Somatic				HSPA8_ENST00000526110.1_Missense_Mutation_p.R514M|HSPA8_ENST00000532636.1_Missense_Mutation_p.R533M|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.R533M|HSPA8_ENST00000533540.1_Missense_Mutation_p.R387M|HSPA8_ENST00000534319.1_Missense_Mutation_p.R297M	p.R533M	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	1874	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	533					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1598G>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046796	0.55110	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.01119	5.31;5.31;5.31;5.31;5.31;5.31;5.31;5.31	4.77	3.86	0.44501	.	0.059654	0.64402	D	0.000015	T	0.03827	0.0108	M	0.90595	3.13	0.58432	D	0.999999	P;P	0.52061	0.95;0.69	B;B	0.43783	0.431;0.431	T	0.29912	-0.9996	10	0.87932	D	0	-17.1658	13.2622	0.60111	0.0:0.922:0.0:0.0779	.	533;533	Q53GZ6;P11142	.;HSP7C_HUMAN	M	533;387;533;533;297;514;124;85	ENSP00000437125:R533M;ENSP00000437189:R387M;ENSP00000432083:R533M;ENSP00000227378:R533M;ENSP00000433316:R297M;ENSP00000433584:R514M;ENSP00000435908:R124M;ENSP00000435019:R85M	ENSP00000227378:R533M	R	-	2	0	HSPA8	122434327	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	6.038000	0.70964	1.124000	0.41980	-0.258000	0.10820	AGG		0.423	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			5	323	5	323	---	---	---	---	A	122929117	C	A	122929117	3	1	66	1	0	0	0	0	1	0	0	0	7416	681	24	1	350	1	HSPA8	11	122929117	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	2095945	122929117	12077399	90	3173										
B3GAT1	27087	broad.mit.edu	37	chr11	134253748	134253748	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgcgcagcttgtagttgcgGggcgtctccacgtgcaggtg	16	12	1	0			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.chr11:134253748G>T	ENST00000524765.1	-	3	4991	c.447C>A	c.(445-447)ccC>ccA	p.P149P	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Silent_p.P162P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000312527.4_Silent_p.P149P			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	149					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)		TGTAGTTGCGGGGCGTCTCCA	0.731																																						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.(445-447)ccC>ccA		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							30	28	29					11																	134253748		2177	4238	6415	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253748G>T	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.447C>A	11.37:g.134253748G>T			Somatic				B3GAT1_ENST00000312527.4_Silent_p.P149P|B3GAT1_ENST00000392580.1_Silent_p.P149P|B3GAT1_ENST00000537389.1_Silent_p.P162P	p.P149P			WXS	Illumina GAIIx	Phase_I	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	4991	-	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)	149					Q96FS7	Silent	SNP	ENST00000524765.1	37	c.447C>A	CCDS8500.1																																																																																				0.731	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		3	16	3	16	---	---	---	---	T	134253748	G	T	134253748	2	4	66	1	0	0	0	0	0	0	0	1	1253	1219	43	1		1	B3GAT1	11	134253748	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	11324631	134253748	752768	91	3174										
MYL6	4637	broad.mit.edu	37	chr12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A													0	0	1	0	0	0	1	1	0	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_ENST00000548400.1_Missense_Mutation_p.H111Q|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000549017.1_Intron|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron	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		Somatic				MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q	p.H147Q	NM_021019.4	NP_066299.2	WXS	Illumina GAIIx	Phase_I	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	14	351	---	---	---	---	A	56554423	T	A	56554423	3	1	66	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		56554423	77297472	92	3175	6	2								
MYL6	4637	broad.mit.edu	37	chr12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G													0	0	1	0	0	0	1	1	0	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_ENST00000548400.1_Missense_Mutation_p.I112S|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000549017.1_Intron|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000549566.1_Intron	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		Somatic				MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S	p.I148S	NM_021019.4	NP_066299.2	WXS	Illumina GAIIx	Phase_I	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	14	342	---	---	---	---	G	56554425	T	G	56554425	3	3	66	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	93	3176	6	2								
DPY19L2	283417	broad.mit.edu	37	chr12	63976243	63976243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcggtgtcaaaaacatcttTagcctcataattaaaatggc	7	8	3	0			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			Somatic				DPY19L2_ENST00000413230.2_Silent_p.L3L	p.L556L	NM_173812.4	NP_776173.3	WXS	Illumina GAIIx	Phase_I	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	23	82	---	---	---	---	C	63976243	T	C	63976243	2	2	66	1	0	0	0	0	0	0	0	1	4741	1741	61	2		2	DPY19L2	12	63976243	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	7421818	63976243	69875652	94	3177										
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	13	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.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA			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		Somatic				UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron	p.A350V			WXS	Illumina GAIIx	Phase_I	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	7	475	---	---	---	---	A	125397269	G	A	125397269	3	1	66	1	0	0	0	0	1	0	0	0	16839	1203	42	2	1012	2	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	61421026	125397269	8454626	95	3178										
MIPEP	4285	broad.mit.edu	37	chr13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacagcacatacttctctaCcatggtgccaatacttctac	5	13	2	0			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		Somatic				MIPEP_ENST00000469167.1_5'UTR	p.V149L	NM_005932.3	NP_005923	WXS	Illumina GAIIx	Phase_I	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	11	115	---	---	---	---	A	24455845	C	A	24455845	3	1	66	1	0	0	0	0	1	0	0	0	9592	507	18	3	1764	3	MIPEP	13	24455845	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		24455845	90714033	96	3179										
SPG20	23111	broad.mit.edu	37	chr13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tccatgcttcttgacatgtgGagctagttcttttccaacgc	8	11	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.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_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		Somatic				SPG20_ENST00000355182.4_Missense_Mutation_p.P511S|SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S	p.P511S	NM_001142295.1	NP_001135767.1	WXS	Illumina GAIIx	Phase_I	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	42	283	---	---	---	---	A	36886567	G	A	36886567	3	1	66	1	0	0	0	0	1	0	0	0	15041	1174	41	2	481	2	SPG20	13	36886567	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12430722	36886567	78283311	97	3180										
FAM155A	728215	broad.mit.edu	37	chr13	108518237	108518237	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgttgggactggacaacccCgagaacaactcccaaagtgt	11	11	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.chr13:108518237C>A	ENST00000375915.2	-	1	846	c.708G>T	c.(706-708)tcG>tcT	p.S236S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	236						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						TGGACAACCCCGAGAACAACT	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.(706-708)tcG>tcT		family with sequence similarity 155, member A							121	120	120					13																	108518237		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518237C>A	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.708G>T	13.37:g.108518237C>A			Somatic					p.S236S	NM_001080396.2	NP_001073865.1	WXS	Illumina GAIIx	Phase_I	B1AL88	F155A_HUMAN			1	846	-			236					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.708G>T	CCDS32006.1																																																																																				0.537	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	240	5	240	---	---	---	---	A	108518237	C	A	108518237	2	1	66	1	0	0	0	0	0	0	0	1	5465	639	23	1		1	FAM155A	13	108518237	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	71631670	108518237	6651641	98	3181										
TEP1	7011	broad.mit.edu	37	chr14	20846388	20846388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatagaggctccgggtgccCccaggtcctacacagggagg	16	12	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.chr14:20846388C>A	ENST00000262715.5	-	39	5556	c.5516G>T	c.(5515-5517)gGg>gTg	p.G1839V	TEP1_ENST00000545983.1_Missense_Mutation_p.G177V|TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1839					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)		TCCGGGTGCCCCCAGGTCCTA	0.592																																						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.(5515-5517)gGg>gTg		telomerase-associated protein 1							45	55	52					14																	20846388		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.chr14:20846388C>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.5516G>T	14.37:g.20846388C>A	ENSP00000262715:p.Gly1839Val		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.G1731V|TEP1_ENST00000545983.1_Missense_Mutation_p.G177V	p.G1839V	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	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	5556	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1839					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5516G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592153	0.28357	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.50001	0.76;1.63;1.63	5.48	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.172464	0.49305	D	0.000150	T	0.60958	0.2309	M	0.72118	2.19	0.45914	D	0.998754	P;D;D;D	0.89917	0.868;0.999;1.0;0.999	B;D;D;D	0.97110	0.383;0.972;1.0;0.938	T	0.56649	-0.7944	10	0.15066	T	0.55	-25.1231	9.0758	0.36519	0.0:0.8374:0.0:0.1626	.	177;1731;1182;1839	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1839;1839;1731;177	ENSP00000262715:G1839V;ENSP00000452574:G1731V;ENSP00000438849:G177V	ENSP00000262715:G1839V	G	-	2	0	TEP1	19916228	0.005000	0.15991	0.997000	0.53966	0.036000	0.12997	0.699000	0.25586	2.580000	0.87095	0.557000	0.71058	GGG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	95	5	95	---	---	---	---	A	20846388	C	A	20846388	3	1	66	1	0	0	0	0	1	0	0	0	15756	623	22	1	2435	1	TEP1	14	20846388	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		20846388	86503152	99	3182										
C14orf149	112849	broad.mit.edu	37	chr14	59942588	59942588	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctaagggtgccacttaccCtcacagctttccctgtgaat	8	13	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.chr14:59942588C>A	ENST00000247194.4	-	4	1051	c.938G>T	c.(937-939)aGg>aTg	p.R313M	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	313					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	GCCACTTACCCTCACAGCTTT	0.453																																						ENST00000247194.4																			0											c.(937-939)aGg>aTg		L-3-hydroxyproline dehydratase (trans-)							83	82	82					14																	59942588		2203	4299	6502	SO:0001630	splice_region_variant	112849							g.chr14:59942588C>A	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.939+1G>T	14.37:g.59942588C>A			Somatic				L3HYPDH_ENST00000487285.1_Splice_Site_p.R142M	p.R313M	NM_144581.1	NP_653182.1	WXS	Illumina GAIIx	Phase_I					4	1051	-								Q96LJ5	Splice_Site	SNP	ENST00000247194.4	37	c.938G>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525033	0.64747	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T	0.18016	2.24;2.24	5.34	2.0	0.26442	.	0.297314	0.41605	D	0.000854	T	0.30978	0.0782	M	0.78456	2.415	0.32612	N	0.524454	D	0.67145	0.996	P	0.62813	0.907	T	0.37244	-0.9714	10	0.49607	T	0.09	.	2.7194	0.05196	0.0:0.3324:0.249:0.4186	.	313	Q96EM0	PRCM_HUMAN	M	313;142;142	ENSP00000247194:R313M;ENSP00000431608:R142M	ENSP00000247194:R313M	R	-	2	0	C14orf149	59012341	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.917000	0.39996	0.590000	0.29694	0.460000	0.39030	AGG		0.453	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581	Missense_Mutation	5	274	5	274	---	---	---	---	A	59942588	C	A	59942588	5	1	66	1	0	0	0	0	0	0	1	0	1752	695	24	1	134	1	C14orf149	14	59942588	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	39096200	59942588	47406952	100	3183										
FUT8	2530	broad.mit.edu	37	chr14	66208945	66208945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatttatgctcaccaaccCcgaactgcagatgaaattcc	6	14	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.chr14:66208945C>A	ENST00000360689.5	+	11	3272	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000557164.1_Silent_p.P352P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	515	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)			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)		CTCACCAACCCCGAACTGCAG	0.438																																						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.(1543-1545)ccC>ccA		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							143	142	142					14																	66208945		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.chr14:66208945C>A	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.1545C>A	14.37:g.66208945C>A			Somatic				FUT8_ENST00000394585.1_Silent_p.P515P|FUT8_ENST00000394586.2_Silent_p.P515P|FUT8_ENST00000358307.2_Silent_p.P386P|FUT8_ENST00000417683.1_Silent_p.P109P|FUT8_ENST00000557164.1_Silent_p.P352P	p.P515P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	WXS	Illumina GAIIx	Phase_I	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3272	+			515			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1545C>A	CCDS9775.1																																																																																				0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		6	271	6	271	---	---	---	---	A	66208945	C	A	66208945	2	1	66	1	0	0	0	0	0	0	0	1	6110	610	22	1		1	FUT8	14	66208945	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	6266357	66208945	41140595	101	3184										
CDC42BPB	9578	broad.mit.edu	37	chr14	103442220	103442220	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagccggcgctgccctcacCttgcagcttcctgctcagct	11	17	2	0			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.(1387-1389)Gag>Cag		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			Somatic					p.E463Q	NM_006035.3	NP_006026.3	WXS	Illumina GAIIx	Phase_I	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.1387G>C	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	13	154	---	---	---	---	G	103442220	C	G	103442220	5	3	66	1	0	0	0	0	0	0	1	0	3073	695	24	4	3860	4	CDC42BPB	14	103442220	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	37233275	103442220	3907320	102	3185										
SLC12A6	9990	broad.mit.edu	37	chr15	34531251	34531251	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgtgttgtgcttcatgccCccaaggccacatgactggat	10	13	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.chr15:34531251C>A	ENST00000354181.3	-	20	3039	c.2547G>T	c.(2545-2547)ggG>ggT	p.G849G	SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000558589.1_Silent_p.G840G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	849					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)	GCTTCATGCCCCCAAGGCCAC	0.542																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2545-2547)ggG>ggT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						204	195	198					15																	34531251		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531251C>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.2547G>T	15.37:g.34531251C>A			Somatic				SLC12A6_ENST00000397702.2_Silent_p.G790G|SLC12A6_ENST00000397707.2_Silent_p.G834G|SLC12A6_ENST00000290209.5_Silent_p.G798G|SLC12A6_ENST00000558589.1_Silent_p.G840G|SLC12A6_ENST00000560164.1_Silent_p.G661G|SLC12A6_ENST00000458406.2_Silent_p.G790G|SLC12A6_ENST00000558667.1_Silent_p.G849G|SLC12A6_ENST00000560611.1_Silent_p.G849G|SLC12A6_ENST00000451844.2_Silent_p.G661G	p.G849G			WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	20	3039	-		all_lung(180;2.78e-08)	849					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.2547G>T	CCDS58352.1																																																																																				0.542	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	465	9	465	---	---	---	---	A	34531251	C	A	34531251	2	1	66	1	0	0	0	0	0	0	0	1	14387	610	22	1		1	SLC12A6	15	34531251	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		34531251	68000141	103	3186										
CHP	11261	broad.mit.edu	37	chr15	41523608	41523608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgggcctccacgttactgCgggacgaagagctcgaggag	15	12	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.chr15:41523608C>T	ENST00000334660.5	+	1	268	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|EXD1_ENST00000314992.5_5'Flank|EXD1_ENST00000458580.2_5'Flank|EXD1_ENST00000559743.1_5'Flank|CHP1_ENST00000558351.1_Intron	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		Somatic				CHP1_ENST00000560397.1_Missense_Mutation_p.R10W|CHP1_ENST00000558351.1_Intron	p.R10W	NM_007236.4	NP_009167.1	WXS	Illumina GAIIx	Phase_I	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	3	7	---	---	---	---	T	41523608	C	T	41523608	3	4	66	1	0	0	0	0	1	0	0	0	3366	759	27	2	30	2	CHP	15	41523608	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	6992357	41523608	61007784	104	3187										
CGNL1	84952	broad.mit.edu	37	chr15	57730877	57730877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccgtggtcatagaggaccCcaaaaagcagacctcagtgt	10	12	2	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.chr15:57730877C>A	ENST00000281282.5	+	2	758	c.680C>A	c.(679-681)cCc>cAc	p.P227H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	227	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)		ATAGAGGACCCCAAAAAGCAG	0.557																																						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.(679-681)cCc>cAc		cingulin-like 1							105	106	106					15																	57730877		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730877C>A	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.680C>A	15.37:g.57730877C>A	ENSP00000281282:p.Pro227His		Somatic					p.P227H	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina GAIIx	Phase_I	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	758	+			227			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.680C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293376	0.60086	.	.	ENSG00000128849	ENST00000281282	T	0.77750	-1.12	5.26	4.32	0.51571	.	0.000000	0.48286	D	0.000200	T	0.76499	0.3996	L	0.54323	1.7	0.35444	D	0.795143	D	0.56035	0.974	P	0.51355	0.667	T	0.81818	-0.0758	10	0.87932	D	0	-28.1342	5.4377	0.16490	0.2986:0.5595:0.0:0.1419	.	227	Q0VF96	CGNL1_HUMAN	H	227	ENSP00000281282:P227H	ENSP00000281282:P227H	P	+	2	0	CGNL1	55518169	0.981000	0.34729	0.983000	0.44433	0.910000	0.53928	1.601000	0.36773	1.379000	0.46325	0.650000	0.86243	CCC		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		5	297	5	297	---	---	---	---	A	57730877	C	A	57730877	3	1	66	1	0	0	0	0	1	0	0	0	3304	623	22	1	682	1	CGNL1	15	57730877	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	16207269	57730877	44800515	105	3188										
C15orf42	90381	broad.mit.edu	37	chr15	90129088	90129088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagctgtggctgacagcccCcgggacacagcttccctttt	10	15	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.chr15:90129088C>A	ENST00000268138.7	+	4	1431	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	442					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTGACAGCCCCCGGGACACAG	0.493																																						ENST00000268138.7																			0											c.(1324-1326)ccC>ccA		TOPBP1-interacting checkpoint and replication regulator							96	95	95					15																	90129088		1923	4126	6049	SO:0001819	synonymous_variant	90381							g.chr15:90129088C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1326C>A	15.37:g.90129088C>A			Somatic				TICRR_ENST00000560985.1_Silent_p.P441P|RP11-429B14.1_ENST00000559041.1_RNA	p.P442P			WXS	Illumina GAIIx	Phase_I					4	1431	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.1326C>A	CCDS10352.2																																																																																				0.493	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		6	232	6	232	---	---	---	---	A	90129088	C	A	90129088	2	1	66	1	0	0	0	0	0	0	0	1	1796	610	22	1		1	C15orf42	15	90129088	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	32398211	90129088	12402304	106	3189										
ZNF778	197320	broad.mit.edu	37	chr16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggtttatctactgaatgaGcatgtgaaaactcacacaga	9	7	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.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D|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	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	108	---	---	---	---	T	89294346	G	T	89294346	3	4	66	1	0	0	0	0	1	0	0	0	18148	962	34	3	1584	3	ZNF778	16	89294346	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		89294346	1060407	107	3190										
ZNF276	92822	broad.mit.edu	37	chr16	89789105	89789105	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcgcctgcttggtgtggcTgtccgccaggaccccacctt	12	16	0	0			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_ENST00000568064.1_Silent_p.A49A|ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	106	---	---	---	---	A	89789105	T	A	89789105	2	1	66	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	108	3191										
KDM6B	23135	broad.mit.edu	37	chr17	7754485	7754485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgtgagagctcccgttccCacaccaccattgccaagtac	7	16	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.chr17:7754485C>A	ENST00000448097.2	+	14	4151	c.3820C>A	c.(3820-3822)Cac>Aac	p.H1274N	KDM6B_ENST00000254846.5_Missense_Mutation_p.H1274N			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1274					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						CTCCCGTTCCCACACCACCAT	0.602																																						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.(3820-3822)Cac>Aac		lysine (K)-specific demethylase 6B							124	102	110					17																	7754485		2203	4300	6503	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.chr17:7754485C>A	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.3820C>A	17.37:g.7754485C>A	ENSP00000412513:p.His1274Asn		Somatic				KDM6B_ENST00000448097.2_Missense_Mutation_p.H1274N	p.H1274N	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			14	4209	+			1274					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3820C>A		.	.	.	.	.	.	.	.	.	.	C	15.38	2.816996	0.50633	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.79033	-1.23;-1.23	4.88	4.88	0.63580	.	0.051459	0.85682	D	0.000000	D	0.87124	0.6099	M	0.79123	2.44	0.58432	D	0.999994	P;D	0.67145	0.846;0.996	P;D	0.62955	0.573;0.909	D	0.88672	0.3196	10	0.87932	D	0	-13.6538	17.3331	0.87271	0.0:1.0:0.0:0.0	.	1274;1274	O15054;O15054-1	KDM6B_HUMAN;.	N	1274	ENSP00000254846:H1274N;ENSP00000412513:H1274N	ENSP00000254846:H1274N	H	+	1	0	KDM6B	7695210	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.346000	0.65992	2.718000	0.92993	0.650000	0.86243	CAC		0.602	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	112	4	112	---	---	---	---	A	7754485	C	A	7754485	3	1	66	1	0	0	0	0	1	0	0	0	8138	594	21	1	3862	1	KDM6B	17	7754485	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		7754485	73440725	109	3192										
COX10	1352	broad.mit.edu	37	chr17	14110351	14110351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catggaccttccccatcatgGcccttcccatcaatgcgtac	6	17	2	0			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.chr17:14110351G>T	ENST00000261643.3	+	7	1230	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	385					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCCCATCATGGCCCTTCCCAT	0.647																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1153-1155)Gcc>Tcc		cytochrome c oxidase assembly homolog 10 (yeast)							142	115	124					17																	14110351		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110351G>T	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1153G>T	17.37:g.14110351G>T	ENSP00000261643:p.Ala385Ser		Somatic				COX10_ENST00000537334.1_Missense_Mutation_p.A168S|COX10_ENST00000536205.1_Missense_Mutation_p.A193S	p.A385S	NM_001303.3	NP_001294.2	WXS	Illumina GAIIx	Phase_I	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	7	1230	+		all_lung(20;0.06)|Lung SC(565;0.168)	385					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1153G>T	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568720	0.00895	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93307	-3.2;-3.2;-3.2	4.79	-0.706	0.11249	.	0.312686	0.36134	N	0.002765	T	0.76983	0.4064	N	0.01576	-0.805	0.26777	N	0.969683	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.64732	-0.6338	10	0.02654	T	1	-5.6982	13.8541	0.63515	0.0:0.0:0.5386:0.4614	.	193;385	B4DJ50;Q12887	.;COX10_HUMAN	S	385;193;168	ENSP00000261643:A385S;ENSP00000439494:A193S;ENSP00000443354:A168S	ENSP00000261643:A385S	A	+	1	0	COX10	14051076	1.000000	0.71417	0.091000	0.20842	0.002000	0.02628	2.098000	0.41757	-0.024000	0.13941	-0.397000	0.06425	GCC		0.647	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		5	194	5	194	---	---	---	---	T	14110351	G	T	14110351	3	4	66	1	0	0	0	0	1	0	0	0	3762	1203	42	3	1179	3	COX10	17	14110351	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	6355866	14110351	67084859	110	3193										
CPD	1362	broad.mit.edu	37	chr17	28770867	28770867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagatgccacagatggcagGggtatattaaatgccaccat	10	9	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.chr17:28770867G>T	ENST00000225719.4	+	11	2497	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CPD_ENST00000543464.2_Missense_Mutation_p.R560S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	807	Carboxypeptidase-like 2.					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						CAGATGGCAGGGGTATATTAA	0.403																																						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.(2419-2421)agG>agT		carboxypeptidase D							167	164	165					17																	28770867		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770867G>T	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.2421G>T	17.37:g.28770867G>T	ENSP00000225719:p.Arg807Ser		Somatic				CPD_ENST00000543464.2_Missense_Mutation_p.R560S	p.R807S	NM_001304.4	NP_001295.2	WXS	Illumina GAIIx	Phase_I	O75976	CBPD_HUMAN			11	2497	+			807			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2421G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449368	0.26074	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.43688	0.94;0.94	5.92	-0.434	0.12283	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.349889	0.35555	N	0.003134	T	0.16981	0.0408	N	0.04746	-0.17	0.33588	D	0.600725	B;B	0.17268	0.003;0.021	B;B	0.18561	0.002;0.022	T	0.33548	-0.9864	10	0.08837	T	0.75	-15.7136	10.1832	0.42982	0.4269:0.0:0.5731:0.0	.	560;807	F5GZH6;O75976	.;CBPD_HUMAN	S	807;560	ENSP00000225719:R807S;ENSP00000444443:R560S	ENSP00000225719:R807S	R	+	3	2	CPD	25794993	0.941000	0.31946	0.998000	0.56505	0.987000	0.75469	0.037000	0.13840	0.065000	0.16485	0.585000	0.79938	AGG		0.403	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		7	460	7	460	---	---	---	---	T	28770867	G	T	28770867	3	4	66	1	0	0	0	0	1	0	0	0	3798	1223	43	1	2463	1	CPD	17	28770867	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	14660516	28770867	52424343	111	3194										
TBC1D29	26083	broad.mit.edu	37	chr17	28886736	28886736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcacaacccaagaccatgGggcatctggtgagtttatgg	11	10	2	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.chr17:28886736G>T	ENST00000580161.1	+	2	2501	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	2	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAAGACCATGGGGCATCTGGT	0.627																																						ENST00000580161.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(4-6)Ggg>Tgg		TBC1 domain family, member 29							138	134	136					17																	28886736		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28886736G>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.4G>T	17.37:g.28886736G>T	ENSP00000462799:p.Gly2Trp		Somatic				TBC1D29_ENST00000579181.1_Missense_Mutation_p.G2W|TBC1D29_ENST00000584297.1_Missense_Mutation_p.G2W	p.G2W			WXS	Illumina GAIIx	Phase_I	Q9UFV1	TBC29_HUMAN			2	2501	+		Myeloproliferative disorder(56;0.0255)	2			Rab-GAP TBC; truncated.			Missense_Mutation	SNP	ENST00000580161.1	37	c.4G>T	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839369	0.02692	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	.	.	.	Rab-GAP/TBC domain (1);	.	.	.	.	T	0.03783	0.0107	N	0.00289	-1.7	0.20196	N	0.99993	D	0.55605	0.972	B	0.43680	0.427	T	0.14531	-1.0469	6	0.25751	T	0.34	.	.	.	.	.	2	Q9UFV1	TBC29_HUMAN	W	2	.	ENSP00000330052:G2W	G	+	1	0	TBC1D29	25910862	0.604000	0.26932	0.010000	0.14722	0.010000	0.07245	0.121000	0.15667	-1.699000	0.01416	-1.727000	0.00703	GGG		0.627	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		5	258	5	258	---	---	---	---	T	28886736	G	T	28886736	3	4	66	1	0	0	0	0	1	0	0	0	15615	1232	43	1	6	1	TBC1D29	17	28886736	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	115869	28886736	52308474	112	3195										
KRT14	3861	broad.mit.edu	37	chr17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaactcacttggtgcggaaGtcatccgcggccagacgggc	13	13	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		Somatic					p.D199E	NM_000526.4	NP_000517	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	C	39741238	G	C	39741238	3	2	66	1	0	0	0	0	1	0	0	0	8451	1020	36	4	849	4	KRT14	17	39741238	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	10854502	39741238	41453972	113	3196										
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	6	6	0	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																																						ENST00000399799.2																			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		Somatic					p.T518S	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)					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	6	280	---	---	---	---	A	18586746	T	A	18586746	3	1	66	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	114	3197										
ZNF516	9658	broad.mit.edu	37	chr18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggccagagtcctcagctccTgggctgccttcgaggggggc	16	13	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.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	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		Somatic				ZNF516_ENST00000524431.2_5'UTR	p.Q1008L	NM_014643.3	NP_055458.1	WXS	Illumina GAIIx	Phase_I	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	25	29	---	---	---	---	A	74091047	T	A	74091047	3	1	66	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	115	3198										
DNMT1	1786	broad.mit.edu	37	chr19	10291243	10291243	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgactttagccaggtagccCtcctacagcaggaaaggata	10	10	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.chr19:10291243C>A	ENST00000340748.4	-	4	463	c.228G>T	c.(226-228)gaG>gaT	p.E76D	DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	76	DMAP-interaction.|Interaction with DMAP1.|Interaction with DNMT3A.|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)			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)	CCAGGTAGCCCTCCTACAGCA	0.408																																						ENST00000340748.4																			0				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.(226-228)gaG>gaT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						81	84	83					19																	10291243		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.chr19:10291243C>A	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.228G>T	19.37:g.10291243C>A	ENSP00000345739:p.Glu76Asp		Somatic				DNMT1_ENST00000540357.1_Missense_Mutation_p.E76D|DNMT1_ENST00000359526.4_Missense_Mutation_p.E76D	p.E76D			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	463	-			76			Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.228G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	c	18.17	3.564305	0.65651	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748	T;T;T	0.46063	0.88;0.88;0.88	5.65	4.62	0.57501	DMAP1-binding (1);	0.057975	0.64402	D	0.000003	T	0.48660	0.1512	L	0.34521	1.04	0.30396	N	0.78054	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.79108	0.987;0.987;0.992	T	0.50792	-0.8786	10	0.59425	D	0.04	.	7.2941	0.26383	0.0:0.7401:0.0:0.2599	.	76;76;76	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	D	76	ENSP00000352516:E76D;ENSP00000440457:E76D;ENSP00000345739:E76D	ENSP00000345739:E76D	E	-	3	2	DNMT1	10152243	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.559000	0.23485	1.374000	0.46228	0.650000	0.86243	GAG		0.408	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		5	198	5	198	---	---	---	---	A	10291243	C	A	10291243	3	1	66	1	0	0	0	0	1	0	0	0	4675	680	24	1	4822	1	DNMT1	19	10291243	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		10291243	48837740	116	3199										
SIN3B	23309	broad.mit.edu	37	chr19	16952650	16952650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtataaagaggacaaaccCcaggtgcccctggagtccga	11	13	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.chr19:16952650C>A	ENST00000248054.5	+	4	474	c.453C>A	c.(451-453)ccC>ccA	p.P151P	SIN3B_ENST00000596802.1_Silent_p.P151P|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Silent_p.P151P					SIN3 transcription regulator family member B									p.P151P(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGACAAACCCCAGGTGCCCC	0.517																																						ENST00000379803.1																			1	Substitution - coding silent(1)	p.P151P(1)	skin(1)	endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(451-453)ccC>ccA		SIN3 transcription regulator family member B							99	91	94					19																	16952650		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952650C>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.453C>A	19.37:g.16952650C>A			Somatic				SIN3B_ENST00000248054.5_Silent_p.P151P|SIN3B_ENST00000596802.1_Silent_p.P151P	p.P151P	NM_015260.2	NP_056075.1	WXS	Illumina GAIIx	Phase_I	O75182	SIN3B_HUMAN			4	467	+			151						Silent	SNP	ENST00000248054.5	37	c.453C>A																																																																																					0.517	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	149	4	149	---	---	---	---	A	16952650	C	A	16952650	2	1	66	1	0	0	0	0	0	0	0	1	14326	610	22	1		1	SIN3B	19	16952650	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	6661407	16952650	42176333	117	3200										
ZBTB32	27033	broad.mit.edu	37	chr19	36207474	36207474	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacacggggccgctccgtaCcgctgctccctgtgcggggc	14	17	0	0			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.chr19:36207474C>A	ENST00000392197.2	+	7	1602	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	428					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)			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)			CCGCTCCGTACCGCTGCTCCC	0.682											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(1282-1284)taC>taA		zinc finger and BTB domain containing 32							50	51	51					19																	36207474		2203	4300	6503	SO:0001587	stop_gained	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.chr19:36207474C>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.1284C>A	19.37:g.36207474C>A	ENSP00000376035:p.Tyr428*		Somatic	OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.Y428*	p.Y428*			WXS	Illumina GAIIx	Phase_I	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1602	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		428					Q8WVP2	Nonsense_Mutation	SNP	ENST00000392197.2	37	c.1284C>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755112	0.89843	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	4.75	0.296	0.15757	.	0.000000	0.42548	D	0.000684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7044	7.2247	0.26007	0.0:0.5205:0.0:0.4795	.	.	.	.	X	428	.	ENSP00000262630:Y428X	Y	+	3	2	ZBTB32	40899314	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.045000	0.41250	-0.013000	0.14199	-0.379000	0.06801	TAC		0.682	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		4	118	4	118	---	---	---	---	A	36207474	C	A	36207474	4	1	66	1	0	0	0	0	0	1	0	0	17532	518	18	3	1302	3	ZBTB32	19	36207474	Nonsense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	19254824	36207474	22921509	118	3201										
APLP1	84063	broad.mit.edu	37	chr19	36360602	36360602	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaggtggctggactatgcGggcgcctaacccttcaccgg	13	15	1	0			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.chr19:36360602G>T	ENST00000360202.5	+	0	2942				APLP1_ENST00000586861.1_Missense_Mutation_p.G55W|APLP1_ENST00000221891.4_Missense_Mutation_p.G61W|APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|NPHS1_ENST00000591817.1_5'Flank	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			TGGACTATGCGGGCGCCTAAC	0.687																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(181-183)Ggg>Tgg		amyloid beta (A4) precursor-like protein 1							15	19	18					19																	36360602		2201	4297	6498	SO:0001628	intergenic_variant	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.chr19:36360602G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6			19.37:g.36360602G>T			Somatic				APLP1_ENST00000537454.2_Missense_Mutation_p.G22W|APLP1_ENST00000586861.1_Missense_Mutation_p.G55W	p.G61W	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	WXS	Illumina GAIIx	Phase_I	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	373	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		61					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.181G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200055	0.79015	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96265	-3.88;-3.96	4.99	3.94	0.45596	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.143817	0.32231	N	0.006381	D	0.97532	0.9192	M	0.73430	2.235	0.48762	D	0.999705	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;0.999	D	0.97620	1.0135	10	0.87932	D	0	-19.3685	11.4472	0.50131	0.0:0.1821:0.8179:0.0	.	55;22;61;61	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	W	22;61	ENSP00000441501:G22W;ENSP00000221891:G61W	ENSP00000221891:G61W	G	+	1	0	APLP1	41052442	1.000000	0.71417	0.976000	0.42696	0.942000	0.58702	4.607000	0.61133	1.076000	0.40961	0.561000	0.74099	GGG		0.687	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		3	34	3	34	---	---	---	---	T	36360602	G	T	36360602	1	4	66	0	1	0	0	0	0	0	0	0	778	1116	39	1		1	APLP1	19	36360602	IGR	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	153128	36360602	22768381	119	3202										
LRFN3	79414	broad.mit.edu	37	chr19	36431059	36431059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcctctgccctggtgctGgcctttggcgggaaccccct	12	18	1	0			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			Somatic				LRFN3_ENST00000246529.3_Silent_p.L244L	p.L244L			WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	A	36431059	G	A	36431059	2	1	66	1	0	0	0	0	0	0	0	1	8939	1335	47	2		2	LRFN3	19	36431059	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	70457	36431059	22697924	120	3203										
TMEM145	284339	broad.mit.edu	37	chr19	42819344	42819344	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctaccaaatcggcagggatCctggagacagatgtgacctt	11	11	0	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.chr19:42819344C>A	ENST00000301204.3	+	7	551	c.510C>A	c.(508-510)atC>atA	p.I170I	TMEM145_ENST00000598766.1_Silent_p.I194I	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	170					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.I170I(1)		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)				CGGCAGGGATCCTGGAGACAG	0.532																																						ENST00000598766.1																			1	Substitution - coding silent(1)	p.I170I(1)	prostate(1)	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.(580-582)atC>atA		transmembrane protein 145							173	145	154					19																	42819344		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42819344C>A	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.510C>A	19.37:g.42819344C>A			Somatic				TMEM145_ENST00000301204.3_Silent_p.I170I	p.I194I			WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			7	582	+		Prostate(69;0.00682)	170						Silent	SNP	ENST00000301204.3	37	c.582C>A	CCDS12603.1																																																																																				0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		5	129	5	129	---	---	---	---	A	42819344	C	A	42819344	2	1	66	1	0	0	0	0	0	0	0	1	16056	845	30	3		3	TMEM145	19	42819344	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	6388285	42819344	16309639	121	3204										
PRKD2	25865	broad.mit.edu	37	chr19	47195016	47195016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atagaccactccaaactgccCtgagcccagcacttcgtcag	7	16	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.chr19:47195016C>A	ENST00000291281.4	-	12	1903	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.G560W|PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W			Q9BZL6	KPCD2_HUMAN	protein kinase D2	560	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAAACTGCCCTGAGCCCAGC	0.582																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1678-1680)Ggg>Tgg		protein kinase D2							91	88	89					19																	47195016		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47195016C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1678G>T	19.37:g.47195016C>A	ENSP00000291281:p.Gly560Trp		Somatic				PRKD2_ENST00000595515.1_Missense_Mutation_p.G560W|PRKD2_ENST00000600194.1_Missense_Mutation_p.G403W|PRKD2_ENST00000601806.1_Missense_Mutation_p.G403W|PRKD2_ENST00000291281.4_Missense_Mutation_p.G560W	p.G560W	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	WXS	Illumina GAIIx	Phase_I	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2155	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	560			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1678G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352967	0.82132	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.99136	-5.47;-5.47	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073958	0.52532	N	0.000069	D	0.99622	0.9862	H	0.99325	4.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97311	0.9937	10	0.87932	D	0	-25.5132	15.1112	0.72359	0.0:1.0:0.0:0.0	.	560;560	E7ER94;Q9BZL6	.;KPCD2_HUMAN	W	560	ENSP00000291281:G560W;ENSP00000393978:G560W	ENSP00000291281:G560W	G	-	1	0	PRKD2	51886856	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	7.688000	0.84153	2.240000	0.73641	0.555000	0.69702	GGG		0.582	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	133	4	133	---	---	---	---	A	47195016	C	A	47195016	3	1	66	1	0	0	0	0	1	0	0	0	12519	681	24	1	986	1	PRKD2	19	47195016	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	4375672	47195016	11933967	122	3205										
SHANK1	50944	broad.mit.edu	37	chr19	51191309	51191309	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccttcaccacattctgccCgttcacctgtggcacagaca	7	16	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.chr19:51191309C>A	ENST00000293441.1	-	17	2197	c.2179G>T	c.(2179-2181)Ggg>Tgg	p.G727W	SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	727	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		ACATTCTGCCCGTTCACCTGT	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.(2179-2181)Ggg>Tgg		SH3 and multiple ankyrin repeat domains 1							151	109	123					19																	51191309		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.chr19:51191309C>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.2179G>T	19.37:g.51191309C>A	ENSP00000293441:p.Gly727Trp		Somatic				SHANK1_ENST00000359082.3_Missense_Mutation_p.G718W|SHANK1_ENST00000391814.1_Missense_Mutation_p.G727W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G114W	p.G727W	NM_016148.2	NP_057232.2	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	17	2197	-		all_neural(266;0.057)	727			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2179G>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969552	0.34754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.33	3.33	0.38152	PDZ/DHR/GLGF (4);	0.000000	0.64402	U	0.000002	T	0.69646	0.3134	M	0.91090	3.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77879	-0.2423	10	0.59425	D	0.04	-7.7837	13.9587	0.64166	0.0:1.0:0.0:0.0	.	727;114	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	W	727;114;718;727	ENSP00000293441:G727W;ENSP00000375689:G114W;ENSP00000351984:G718W;ENSP00000375690:G727W	ENSP00000293441:G727W	G	-	1	0	SHANK1	55883121	0.804000	0.28969	1.000000	0.80357	0.377000	0.30045	2.790000	0.47821	1.896000	0.54893	0.289000	0.19496	GGG		0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	157	4	157	---	---	---	---	A	51191309	C	A	51191309	3	1	66	1	0	0	0	0	1	0	0	0	14264	652	23	1	4334	1	SHANK1	19	51191309	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	3996293	51191309	7937674	123	3206										
ZFP28	140612	broad.mit.edu	37	chr19	57059269	57059269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgacaagagcctggtgccCaggtgagtgtgggagaacca	16	8	0	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.chr19:57059269C>A	ENST00000301318.3	+	4	592	c.521C>A	c.(520-522)cCa>cAa	p.P174Q	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	174	KRAB 1. {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(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)		GCCTGGTGCCCAGGTGAGTGT	0.512																																					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.(520-522)cCa>cAa		ZFP28 zinc finger protein							117	103	108					19																	57059269		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57059269C>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.521C>A	19.37:g.57059269C>A	ENSP00000301318:p.Pro174Gln		Somatic				ZFP28_ENST00000591844.1_Missense_Mutation_p.P174Q|AC007228.11_ENST00000596587.1_RNA	p.P174Q	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	4	592	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	174			KRAB 1.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.521C>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636352	0.47049	.	.	ENSG00000196867	ENST00000301318	T	0.08008	3.14	3.84	2.76	0.32466	Krueppel-associated box (1);	0.431022	0.17342	N	0.177701	T	0.23926	0.0579	M	0.74647	2.275	0.25114	N	0.990691	P;D	0.89917	0.868;1.0	B;D	0.78314	0.289;0.991	T	0.02150	-1.1205	10	0.49607	T	0.09	.	7.8689	0.29554	0.0:0.881:0.0:0.119	.	174;174	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	Q	174	ENSP00000301318:P174Q	ENSP00000301318:P174Q	P	+	2	0	ZFP28	61751081	0.879000	0.30193	0.752000	0.31206	0.608000	0.37181	1.681000	0.37618	0.924000	0.37069	0.563000	0.77884	CCA		0.512	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		4	119	4	119	---	---	---	---	A	57059269	C	A	57059269	3	1	66	1	0	0	0	0	1	0	0	0	17639	594	21	1	535	1	ZFP28	19	57059269	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5867960	57059269	2069714	124	3207										
ZSCAN22	342945	broad.mit.edu	37	chr19	58850175	58850175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaccaggttgtccacacagGggcgaagccccatgagtgta	13	12	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.chr19:58850175G>T	ENST00000329665.4	+	3	1106	c.959G>T	c.(958-960)gGg>gTg	p.G320V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	320					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(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GTCCACACAGGGGCGAAGCCC	0.567																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(958-960)gGg>gTg		zinc finger and SCAN domain containing 22							78	84	82					19																	58850175		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850175G>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.959G>T	19.37:g.58850175G>T	ENSP00000332433:p.Gly320Val		Somatic					p.G320V	NM_181846.2	NP_862829.1	WXS	Illumina GAIIx	Phase_I	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1106	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	320					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.959G>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278409	0.59758	.	.	ENSG00000182318	ENST00000329665	T	0.23552	1.9	3.8	3.8	0.43715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45776	0.1359	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.47787	-0.9090	9	0.87932	D	0	.	13.5491	0.61721	0.0:0.0:1.0:0.0	.	320	P10073	ZSC22_HUMAN	V	320	ENSP00000332433:G320V	ENSP00000332433:G320V	G	+	2	0	ZSCAN22	63541987	0.997000	0.39634	0.741000	0.31004	0.665000	0.39181	3.446000	0.52928	2.100000	0.63781	0.462000	0.41574	GGG		0.567	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		5	244	5	244	---	---	---	---	T	58850175	G	T	58850175	3	4	66	1	0	0	0	0	1	0	0	0	18231	1232	43	1	965	1	ZSCAN22	19	58850175	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	1790906	58850175	278808	125	3208										
CHD6	84181	broad.mit.edu	37	chr20	40044151	40044151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccagccattgaggatgataGgggtgtgcccgtgggtggca	18	8	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.chr20:40044151G>T	ENST00000373233.3	-	34	6791	c.6614C>A	c.(6613-6615)cCt>cAt	p.P2205H	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2205					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)				GAGGATGATAGGGGTGTGCCC	0.597																																						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.(6613-6615)cCt>cAt		chromodomain helicase DNA binding protein 6							30	30	30					20																	40044151		2203	4300	6503	SO:0001583	missense	84181				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.chr20:40044151G>T	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.6614C>A	20.37:g.40044151G>T	ENSP00000362330:p.Pro2205His		Somatic					p.P2205H	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			34	6791	-		Myeloproliferative disorder(115;0.00425)	2205					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6614C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597809	0.66332	.	.	ENSG00000124177	ENST00000373233	D	0.85013	-1.93	5.94	5.94	0.96194	.	0.105905	0.42682	D	0.000679	D	0.85017	0.5601	L	0.54323	1.7	0.80722	D	1	P	0.49961	0.93	P	0.46975	0.533	D	0.84332	0.0522	10	0.40728	T	0.16	-7.1351	15.1177	0.72416	0.0:0.0:0.8585:0.1415	.	2205	Q8TD26	CHD6_HUMAN	H	2205	ENSP00000362330:P2205H	ENSP00000362330:P2205H	P	-	2	0	CHD6	39477565	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.273000	0.65564	2.822000	0.97130	0.557000	0.71058	CCT		0.597	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	68	4	68	---	---	---	---	T	40044151	G	T	40044151	3	4	66	1	0	0	0	0	1	0	0	0	3329	1000	35	1	1549	1	CHD6	20	40044151	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		40044151	22981369	126	3209										
MYH9	4627	broad.mit.edu	37	chr22	36701115	36701115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcttcccgtccatgaaaccCttgggaatggagtttggagt	12	9	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.chr22:36701115C>A	ENST00000216181.5	-	18	2423	c.2193G>T	c.(2191-2193)aaG>aaT	p.K731N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	731	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						CCATGAAACCCTTGGGAATGG	0.547			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.(2191-2193)aaG>aaT		myosin, heavy chain 9, non-muscle							134	124	128					22																	36701115		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.chr22:36701115C>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.2193G>T	22.37:g.36701115C>A	ENSP00000216181:p.Lys731Asn		Somatic					p.K731N	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			18	2423	-			731			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2193G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923706	0.73213	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87729	-2.29	4.66	2.1	0.27182	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	L	0.53561	1.675	0.80722	D	1	P	0.37038	0.579	B	0.40677	0.337	T	0.78773	-0.2073	10	0.87932	D	0	.	1.6993	0.02869	0.303:0.3953:0.0:0.3017	.	731	P35579	MYH9_HUMAN	N	595;731	ENSP00000216181:K731N	ENSP00000216181:K731N	K	-	3	2	MYH9	35031061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.617000	0.36943	1.083000	0.41159	0.655000	0.94253	AAG		0.547	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	146	4	146	---	---	---	---	A	36701115	C	A	36701115	3	1	66	1	0	0	0	0	1	0	0	0	10042	680	24	1	3785	1	MYH9	22	36701115	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		36701115	14603451	127	3210										
MFNG	4242	broad.mit.edu	37	chr22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagaagctgcagcagcgccCttgggttcacatagttgtca	11	11	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.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		Somatic				MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	p.R150M	NM_002405.3	NP_002396.2	WXS	Illumina GAIIx	Phase_I	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	4	80	---	---	---	---	A	37875495	C	A	37875495	3	1	66	1	0	0	0	0	1	0	0	0	9525	681	24	1	536	1	MFNG	22	37875495	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	1174380	37875495	13429071	128	3211										
XRCC6	2547	broad.mit.edu	37	chr22	42052956	42052956	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgataaaaggaagatgccCtttactgaaaaaatcatggc	9	6	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.chr22:42052956C>A	ENST00000359308.4	+	9	1996	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P|XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000360079.3_Silent_p.P447P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	447	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						GGAAGATGCCCTTTACTGAAA	0.423								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.(1339-1341)ccC>ccA	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							82	79	80					22																	42052956		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.chr22:42052956C>A	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.1341C>A	22.37:g.42052956C>A			Somatic				XRCC6_ENST00000402580.3_Silent_p.P406P|XRCC6_ENST00000405506.1_Silent_p.P397P|XRCC6_ENST00000405878.1_Silent_p.P447P|XRCC6_ENST00000360079.3_Silent_p.P447P|XRCC6_ENST00000428575.2_Silent_p.P314P	p.P447P			WXS	Illumina GAIIx	Phase_I	P12956	XRCC6_HUMAN			9	1996	+			447			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	c.1341C>A	CCDS14021.1																																																																																				0.423	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		4	148	4	148	---	---	---	---	A	42052956	C	A	42052956	2	1	66	1	0	0	0	0	0	0	0	1	17454	668	24	1		1	XRCC6	22	42052956	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	4177461	42052956	9251610	129	3212										
TCF20	6942	broad.mit.edu	37	chr22	42610895	42610895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggccagagtgctgtgcttgAaactggcccacatgaccctc	11	13	0	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.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			Somatic				TCF20_ENST00000335626.4_Silent_p.F139F	p.F139F	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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	56	162	---	---	---	---	G	42610895	A	G	42610895	2	3	66	1	0	0	0	0	0	0	0	1	15687	243	9	2		2	TCF20	22	42610895	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	557939	42610895	8693671	130	3213										
BCOR	54880	broad.mit.edu	37	chrX	39914706	39914706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaaggtggggtcagcaccAtaagagagaagtagtcggac	15	8	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.chrX:39914706A>G	ENST00000378444.4	-	12	4884	c.4656T>C	c.(4654-4656)taT>taC	p.Y1552Y	BCOR_ENST00000342274.4_Silent_p.Y1518Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y|BCOR_ENST00000378463.1_Silent_p.Y395Y	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			Somatic				BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378463.1_Silent_p.Y395Y|BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y	p.Y1518Y	NM_001123383.1	NP_001116855.1	WXS	Illumina GAIIx	Phase_I	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	8	83	---	---	---	---	G	39914706	A	G	39914706	2	3	66	1	0	0	0	0	0	0	0	1	1386	224	8	2		2	BCOR	23	39914706	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		39914706	115355854	131	3214										
PCDH19	57526	broad.mit.edu	37	chrX	99662671	99662671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccagttcgtacacgtgccCctcttcgtagtctaaagcgc	9	14	2	0			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:99662671C>A	ENST00000373034.4	-	1	2600	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W	PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	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)			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						TACACGTGCCCCTCTTCGTAG	0.587																																						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.(925-927)Ggg>Tgg		protocadherin 19							63	68	66					X																	99662671		2145	4246	6391	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662671C>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.925G>T	X.37:g.99662671C>A	ENSP00000362125:p.Gly309Trp		Somatic				PCDH19_ENST00000255531.7_Missense_Mutation_p.G309W|PCDH19_ENST00000420881.2_Missense_Mutation_p.G309W	p.G309W	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	Q8TAB3	PCD19_HUMAN			1	2600	-			309			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.925G>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.325993	0.41197	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52295	0.67;0.67;0.67	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.340109	0.35495	N	0.003175	T	0.59742	0.2216	L	0.33339	1.005	0.48696	D	0.999692	D;D;D	0.76494	0.999;0.995;0.996	D;P;D	0.65443	0.935;0.879;0.926	T	0.60969	-0.7157	10	0.62326	D	0.03	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	309;309;309	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	W	309	ENSP00000400327:G309W;ENSP00000362125:G309W;ENSP00000255531:G309W	ENSP00000255531:G309W	G	-	1	0	PCDH19	99549327	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.181000	0.32017	2.498000	0.84270	0.513000	0.50165	GGG		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		4	62	4	62	---	---	---	---	A	99662671	C	A	99662671	3	1	66	1	0	0	0	0	1	0	0	0	11514	623	22	1	2545	1	PCDH19	23	99662671	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	59747965	99662671	55607889	132	3215										
IGSF1	3547	broad.mit.edu	37	chrX	130407832	130407832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgaaggagaattggcagGggtgcctggttctccttctt	14	7	2	3	rs373560620		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:130407832G>T	ENST00000361420.3	-	20	4028	c.3949C>A	c.(3949-3951)Cct>Act	p.P1317T	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000370904.1_Missense_Mutation_p.P1308T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1317					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						GAATTGGCAGGGGTGCCTGGT	0.463																																						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.(3922-3924)Cct>Act		immunoglobulin superfamily, member 1							183	173	177					X																	130407832		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:130407832G>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.3949C>A	X.37:g.130407832G>T	ENSP00000355010:p.Pro1317Thr		Somatic				IGSF1_ENST00000370903.3_Missense_Mutation_p.P1322T|IGSF1_ENST00000361420.3_Missense_Mutation_p.P1317T|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1308T	p.P1308T			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			26	4832	-			1317					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3922C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.363584	0.00015	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00634	6.1;6.09;6.1;6.07	4.1	0.305	0.15801	.	0.931560	0.08959	N	0.868903	T	0.00356	0.0011	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	0.42932	-0.9422	10	0.02654	T	1	.	3.4337	0.07438	0.0:0.2367:0.2154:0.5479	.	1308;761;1317	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	T	1308;1317;1308;1322	ENSP00000359947:P1308T;ENSP00000355010:P1317T;ENSP00000359941:P1308T;ENSP00000359940:P1322T	ENSP00000355010:P1317T	P	-	1	0	IGSF1	130235513	0.876000	0.30132	0.001000	0.08648	0.038000	0.13279	0.620000	0.24403	-0.049000	0.13379	-0.490000	0.04691	CCT		0.463	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			5	189	5	189	---	---	---	---	T	130407832	G	T	130407832	3	4	66	1	0	0	0	0	1	0	0	0	7596	1232	43	1	65	1	IGSF1	23	130407832	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	30745161	130407832	24862728	133	3216										
SLITRK4	139065	broad.mit.edu	37	chrX	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)gtafs		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		Somatic				SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	p.V394fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	WXS	Illumina GAIIx	Phase_I	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	66	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	12309911	142717743	12552817	134	3217										
GPR157	80045	broad.mit.edu	37	chr1	9171452	9171452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatggtccttggcctccagGtcgatccagcaccagcccac	9	17	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	14	68	---	---	---	---	A	9171452	G	A	9171452	2	1	67	1	0	0	0	0	0	0	0	1	6662	1252	44	2		2	GPR157	1	9171452	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		9171452	240079169	1	3218										
TCEB3	6924	broad.mit.edu	37	chr1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaccccaggaagaagaagAagctggatttactgggcgca	12	9	1	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		Somatic				TCEB3_ENST00000609199.1_Missense_Mutation_p.E522A	p.E548A	NM_003198.2	NP_003189.2	WXS	Illumina GAIIx	Phase_I	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	5	189	---	---	---	---	C	24080617	A	C	24080617	3	2	67	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	2	3219										
ETV3	2117	broad.mit.edu	37	chr1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaggatcctcttgttgtaaTagtatctgtaaaaacaggaa	9	5	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.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		Somatic				ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	p.Y97C	NM_001145312.1	NP_001138784.1	WXS	Illumina GAIIx	Phase_I	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	9	90	---	---	---	---	C	157104014	T	C	157104014	3	2	67	1	0	0	0	0	1	0	0	0	5279	1406	49	2	1288	2	ETV3	1	157104014	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	133023397	157104014	92146607	3	3220										
CACNA1E	777	broad.mit.edu	37	chr1	181727100	181727100	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagagggcgtgcatcgacttCgccatcagcgccaaacctct	10	15	2	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_ENST00000526775.1_Silent_p.F1430F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367567.4_Silent_p.F1056F	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			Somatic				CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000357570.5_Silent_p.F1400F	p.F1430F	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	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	14	122	---	---	---	---	T	181727100	C	T	181727100	2	4	67	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	4	3221										
WDR64	128025	broad.mit.edu	37	chr1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	acaagtggtacttactgcctCcatcgatggctcagtaaggt	10	10	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.chr1:241946665C>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		Somatic				WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	p.S886C	NM_144625.4	NP_653226.4	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	G	241946665	C	G	241946665	3	3	67	1	0	0	0	0	1	0	0	0	17312	855	30	4	2743	4	WDR64	1	241946665	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	60219565	241946665	7303956	5	3222										
PUM2	23369	broad.mit.edu	37	chr2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caattacctgctggtcagaaGaaatagattctaatgctttc	7	8	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.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y			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		Somatic				PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y	p.S824Y			WXS	Illumina GAIIx	Phase_I	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	20	57	---	---	---	---	T	20458017	G	T	20458017	3	4	67	1	0	0	0	0	1	0	0	0	12826	942	33	3	747	3	PUM2	2	20458017	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		20458017	222741356	6	3223										
CNTNAP5	129684	broad.mit.edu	37	chr2	125521376	125521376	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttgcgttgctatggtgacCgtgagtacaaaatcgaaaga	11	8	0	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.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.(2359-2361)Cga>Tga		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			Somatic					p.R787*	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	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.2359C>T	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	11	56	---	---	---	---	T	125521376	C	T	125521376	5	4	67	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	7	3224										
IL17RC	84818	broad.mit.edu	37	chr3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actccgttaggacgaacatcTgccccttcagggagggtgag	13	11	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.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S	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		Somatic				IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000498214.1_3'UTR	p.C359S	NM_153461.3	NP_703191	WXS	Illumina GAIIx	Phase_I	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	12	166	---	---	---	---	A	9969889	T	A	9969889	3	1	67	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	8	3225										
C3orf19	51244	broad.mit.edu	37	chr3	14703060	14703060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaagtagaggatatgtacCttgtggatttcacacagaag	11	5	1	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.chr3:14703060C>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		Somatic				CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F	p.L111F	NM_016474.4	NP_057558.3	WXS	Illumina GAIIx	Phase_I					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	5	180	---	---	---	---	T	14703060	C	T	14703060	3	4	67	1	0	0	0	0	1	0	0	0	2212	681	24	2	349	2	C3orf19	3	14703060	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	4733171	14703060	183319370	9	3226										
MORC1	27136	broad.mit.edu	37	chr3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgagaaaaaaacacacaggTcatcgtttcttccttcttcg	6	11	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.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		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	p.T125A	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	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	12	115	---	---	---	---	C	108818255	T	C	108818255	3	2	67	1	0	0	0	0	1	0	0	0	9701	1667	58	2	2673	2	MORC1	3	108818255	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	94115195	108818255	89204175	10	3227										
C3orf59	151963	broad.mit.edu	37	chr3	192517393	192517393	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacctccagagagcaacagGtattcattagccactggaag	9	11	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.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*		Somatic					p.Y86*	NM_178496.3	NP_848591.2	WXS	Illumina GAIIx	Phase_I	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	9	59	---	---	---	---	T	192517393	G	T	192517393	4	4	67	1	0	0	0	0	0	1	0	0	2237	1256	44	3	1221	3	C3orf59	3	192517393	Nonsense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	83699138	192517393	5505037	11	3228										
CDH18	1016	broad.mit.edu	37	chr5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtccttcagagtgaagtttGgatttacaggcaggcgttca	12	7	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.chr5:19503127G>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_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_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		Somatic				CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L	p.P535L			WXS	Illumina GAIIx	Phase_I	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	13	121	---	---	---	---	A	19503127	G	A	19503127	3	1	67	1	0	0	0	0	1	0	0	0	3103	1348	47	2	780	2	CDH18	5	19503127	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		19503127	161412133	12	3229										
HSPB3	8988	broad.mit.edu	37	chr5	53752034	53752034	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctctgtcatgatggaattTtggtggtggaagtaaaggat	13	4	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.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			Somatic					p.L139L	NM_006308.2	NP_006299.1	WXS	Illumina GAIIx	Phase_I	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	5	204	---	---	---	---	C	53752034	T	C	53752034	2	2	67	1	0	0	0	0	0	0	0	1	7421	1838	64	2		2	HSPB3	5	53752034	Silent	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	34248907	53752034	127163226	13	3230										
ANKRD55	79722	broad.mit.edu	37	chr5	55472069	55472069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacagcagcttcactgtgtcCgcttgacgtccagaaaccgc	9	14	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.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	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			Somatic				ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	p.A74A	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	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	5	206	---	---	---	---	T	55472069	C	T	55472069	2	4	67	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	14	3231										
PCDHA11	56138	broad.mit.edu	37	chr5	140250899	140250899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcgcgccggggaagcccacGctggtgtgctcccgcgcggt	17	15	0	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	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_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	56138							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			Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.T737T	NM_018902.3	NP_061725.1	WXS	Illumina GAIIx	Phase_I			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	4	29	---	---	---	---	A	140250899	G	A	140250899	2	1	67	1	0	0	0	0	0	0	0	1	11521	1074	38	2		2	PCDHA11	5	140250899	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	84778830	140250899	40664361	15	3232										
PCDHB12	56124	broad.mit.edu	37	chr5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgctgggaatgtctcaggCgggctctgaaactgggaact	14	8	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.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	56124				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		Somatic				PCDHB12_ENST00000541609.1_Intron	p.A26V	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	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	4	142	---	---	---	---	T	140588556	C	T	140588556	3	4	67	1	0	0	0	0	1	0	0	0	11537	768	27	2	79	2	PCDHB12	5	140588556	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	337657	140588556	40326704	16	3233										
PCDHGA10	56106	broad.mit.edu	37	chr5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	18	13	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.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGA5_ENST00000518069.1_Intron|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|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_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	56106							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		Somatic				PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A633V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina GAIIx	Phase_I			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	29	59	---	---	---	---	T	140794640	C	T	140794640	3	4	67	1	0	0	0	0	1	0	0	0	11551	768	27	2	1900	2	PCDHGA10	5	140794640	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	206084	140794640	40120620	17	3234										
TNXB	7148	broad.mit.edu	37	chr6	32021196	32021196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgacagagatggggcccacGcgctggccaccgtggaagcc	15	13	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.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			Somatic				TNXB_ENST00000375247.2_Silent_p.R2918R	p.R2920R			WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	A	32021196	G	A	32021196	2	1	67	1	0	0	0	0	0	0	0	1	16343	1074	38	2		2	TNXB	6	32021196	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		32021196	139093871	18	3235										
MDN1	23195	broad.mit.edu	37	chr6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgtcctgattgcagtctcTcaaagcctgctgcctcattc	8	13	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.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR			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		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|MDN1_ENST00000468568.1_5'UTR	p.E4547G			WXS	Illumina GAIIx	Phase_I	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	3	139	---	---	---	---	C	90382073	T	C	90382073	3	2	67	1	0	0	0	0	1	0	0	0	9415	1551	54	2	3234	2	MDN1	6	90382073	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	58360877	90382073	80732994	19	3236										
KLHL7	55975	broad.mit.edu	37	chr7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaatttccgtgaatagcaaCaatgttcagtctttgctgga	9	7	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.chr7:23164685C>G	ENST00000339077.5	+	4	579	c.336C>G	c.(334-336)aaC>aaG	p.N112K	KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|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																																						ENST00000339077.5																			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.(334-336)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		Somatic				KLHL7_ENST00000322231.7_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000479288.1_Intron	p.N112K	NM_001031710.2	NP_001026880.2	WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			4	579	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.336C>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	8	97	---	---	---	---	G	23164685	C	G	23164685	3	3	67	1	0	0	0	0	1	0	0	0	8394	477	17	4	350	4	KLHL7	7	23164685	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		23164685	135973978	20	3237										
KIAA0895	23366	broad.mit.edu	37	chr7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaataacctgaggtagagAacttgagtttagctcttctt	8	8	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.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		Somatic					p.F56S	NM_001100425.1	NP_001093895.1	WXS	Illumina GAIIx	Phase_I	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	6	78	---	---	---	---	G	36423479	A	G	36423479	3	3	67	1	0	0	0	0	1	0	0	0	8197	246	9	2	1448	2	KIAA0895	7	36423479	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	13258794	36423479	122715184	21	3238										
NKX3-1	4824	broad.mit.edu	37	chr8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atagcgtctgttctggaaccAtatcttcacttgggtctccg	9	11	5	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.chr8:23538928A>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		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	p.W171R	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	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	15	248	---	---	---	---	G	23538928	A	G	23538928	3	3	67	1	0	0	0	0	1	0	0	0	10455	217	8	2	197	2	NKX3-1	8	23538928	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08		23538928	122825094	22	3239										
RAD21	5885	broad.mit.edu	37	chr8	117878924	117878924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggccgctagccaaattttGgccagaggccctcttttact	10	12	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.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			Somatic				RAD21_ENST00000523547.1_5'UTR	p.A15A	NM_006265.2	NP_006256.1	WXS	Illumina GAIIx	Phase_I	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	3	85	---	---	---	---	A	117878924	G	A	117878924	2	1	67	1	0	0	0	0	0	0	0	1	12981	1335	47	2		2	RAD21	8	117878924	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	94339996	117878924	28485098	23	3240										
FCN1	2219	broad.mit.edu	37	chr9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccttgaatgatttgtactTagcaaactggtggttgccct	9	9	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.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		Somatic					p.K219E	NM_002003.3	NP_001994.2	WXS	Illumina GAIIx	Phase_I	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	10	434	---	---	---	---	C	137803057	T	C	137803057	3	2	67	1	0	0	0	0	1	0	0	0	5791	1763	61	2	333	2	FCN1	9	137803057	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08		137803057	3410374	24	3241										
LHX3	8022	broad.mit.edu	37	chr9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagcgtcgctgtcctgccCctcctgaacgctgtccttgt	9	17	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		Somatic				LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	p.G253R	NM_014564.3	NP_055379.1	WXS	Illumina GAIIx	Phase_I	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	9	15	---	---	---	---	T	139090531	C	T	139090531	3	4	67	1	0	0	0	0	1	0	0	0	8772	623	22	2	459	2	LHX3	9	139090531	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	1287474	139090531	2122900	25	3242										
NELL1	4745	broad.mit.edu	37	chr11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagaatggaagagtctgttGttctgtggattttgagtgtc	13	4	2	3	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_ENST00000298925.5_Missense_Mutation_p.C828F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F	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		Somatic				NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F	p.C828F			WXS	Illumina GAIIx	Phase_I	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	3	87	---	---	---	---	T	21596534	G	T	21596534	3	4	67	1	0	0	0	0	1	0	0	0	10333	1377	48	3	2477	3	NELL1	11	21596534	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21596534	113409982	26	3243										
MADD	8567	broad.mit.edu	37	chr11	47345221	47345221	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgctttgtgcacttctccaGgtgtgcgatgactgtgtggt	13	10	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.chr11:47345221G>C	ENST00000311027.5	+	31	4542		c.e31-1		MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_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			Somatic				MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000402192.2_Splice_Site		NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	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	3	97	---	---	---	---	C	47345221	G	C	47345221	5	2	67	1	0	0	0	0	0	0	1	0	9152	1014	35	4	4495	4	MADD	11	47345221	Splice_Site	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	25748687	47345221	87661295	27	3244										
OR5AS1	219447	broad.mit.edu	37	chr11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcagcaatggcttatgacCgctatgcagccatctgcaac	10	12	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.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		Somatic					p.R122C	NM_001001921.1	NP_001001921.1	WXS	Illumina GAIIx	Phase_I	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	11	127	---	---	---	---	T	55798258	C	T	55798258	3	4	67	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	28	3245										
SPDYC	387778	broad.mit.edu	37	chr11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcgagtatacccacagcaGcctgttcttggccctgtgag	11	13	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.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		Somatic					p.S110N	NM_001008778.1	NP_001008778.1	WXS	Illumina GAIIx	Phase_I	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	10	113	---	---	---	---	A	64939787	G	A	64939787	3	1	67	1	0	0	0	0	1	0	0	0	15027	971	34	2	343	2	SPDYC	11	64939787	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	9141529	64939787	70066729	29	3246										
FNDC3A	22862	broad.mit.edu	37	chr13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttcactactccaaaatctGtcccagctgccttgaaaggt	6	12	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.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		Somatic				FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F	p.V1046F	NM_001079673.1	NP_001073141.1	WXS	Illumina GAIIx	Phase_I	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	7	167	---	---	---	---	T	49776084	G	T	49776084	3	4	67	1	0	0	0	0	1	0	0	0	5969	1377	48	3	3237	3	FNDC3A	13	49776084	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		49776084	65393794	30	3247										
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	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_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank|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		Somatic				AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K	p.E17K			WXS	Illumina GAIIx	Phase_I	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	7	19	---	---	---	---	T	105246551	C	T	105246551	3	4	67	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		105246551	2102989	31	3248										
C15orf55	256646	broad.mit.edu	37	chr15	34649647	34649647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcgtaaaaggcggtgtgaCagttttgtcacgggcagaag	14	8	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.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			Somatic				NUTM1_ENST00000438749.3_Silent_p.D1136D|NUTM1_ENST00000333756.4_Silent_p.D1118D	p.D1146D	NM_001284292.1	NP_001271221.1	WXS	Illumina GAIIx	Phase_I					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	65	87	---	---	---	---	T	34649647	C	T	34649647	2	4	67	1	0	0	0	0	0	0	0	1	1803	477	17	2		2	C15orf55	15	34649647	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		34649647	67881745	32	3249										
ALDH1A3	220	broad.mit.edu	37	chr15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcacgaatccaagagtgggAaaaagtttgctacatgtaac	11	7	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.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		Somatic				ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	p.K47E	NM_000693.2	NP_000684.2	WXS	Illumina GAIIx	Phase_I	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	33	88	---	---	---	---	G	101425511	A	G	101425511	3	3	67	1	0	0	0	0	1	0	0	0	492	247	9	2	145	2	ALDH1A3	15	101425511	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	66775864	101425511	1105881	33	3250										
A2BP1	54715	broad.mit.edu	37	chr16	7568237	7568237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcagaacggtatccccgCggaatacacggcccctcatc	9	18	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.chr16:7568237C>T	ENST00000550418.1	+	5	1104	c.116C>T	c.(115-117)gCg>gTg	p.A39V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A44V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V	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		Somatic				RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V	p.A44V			WXS	Illumina GAIIx	Phase_I	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	22	199	---	---	---	---	T	7568237	C	T	7568237	3	4	67	1	0	0	0	0	1	0	0	0	3	768	27	2	213	2	A2BP1	16	7568237	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		7568237	82786516	34	3251										
CNOT3	4849	broad.mit.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	16	8	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.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		Somatic				CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR	p.E20K			WXS	Illumina GAIIx	Phase_I	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	19	241	---	---	---	---	A	54646887	G	A	54646887	3	1	67	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		54646887	4482096	35	3252										
AIFM3	150209	broad.mit.edu	37	chr22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctggacacacagcctgaGcagctggccctgaggcccaa	11	16	0	2	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_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|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		Somatic				AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D	p.E247D	NM_144704.2	NP_653305.1	WXS	Illumina GAIIx	Phase_I			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	11	129	---	---	---	---	T	21330001	G	T	21330001	3	4	67	1	0	0	0	0	1	0	0	0	428	962	34	3	789	3	AIFM3	22	21330001	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21330001	29974565	36	3253										
RPS6KA6	27330	broad.mit.edu	37	chrX	83411185	83411185	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagtaatagggatttctttAacaactccttcatcctgtaa	6	8	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: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			Somatic				RPS6KA6_ENST00000543399.1_Silent_p.V52V	p.V52V	NM_014496.4	NP_055311.1	WXS	Illumina GAIIx	Phase_I	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	5	39	---	---	---	---	T	83411185	A	T	83411185	2	4	67	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		83411185	71859375	37	3254										
MST4	51765	broad.mit.edu	37	chrX	131207114	131207114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagaaactaattgaaaaaTttcaaaagtaagttggaaat	7	2	1	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.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_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394334.2_Missense_Mutation_p.F407I|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	51765				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		Somatic				MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I	p.F407I	NM_016542.3	NP_057626.2	WXS	Illumina GAIIx	Phase_I	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	3	66	---	---	---	---	A	131207114	T	A	131207114	3	1	67	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	38	3255										
FBXO6	26270	broad.mit.edu	37	chr1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-													0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	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)cagfs		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		Somatic					p.Q265fs	NM_018438.5	NP_060908.1	WXS	Illumina GAIIx	Phase_I	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	68	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	3256										
ETV3L	440695	broad.mit.edu	37	chr1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ccttgagcactcacggtagaCgctgctgctgctccccttct	9	16	2	2	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		Somatic					p.V201I	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	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	25	202	---	---	---	---	T	157067666	C	T	157067666	3	4	68	1	0	0	0	0	1	0	0	0	5280	536	19	2	492	2	ETV3L	1	157067666	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	145333845	157067666	92182955	2	3257										
INTS7	25896	broad.mit.edu	37	chr1	212118153	212118153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	tcttgtccagatttactctgCagtgtggaagaaacattcag	9	8	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.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_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L	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			Somatic				INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366993.3_Silent_p.L844L	p.L858L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	WXS	Illumina GAIIx	Phase_I	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	24	160	---	---	---	---	T	212118153	C	T	212118153	2	4	68	1	0	0	0	0	0	0	0	1	7783	697	25	2		2	INTS7	1	212118153	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	55050487	212118153	37132468	3	3258										
ZNF827	152485	broad.mit.edu	37	chr4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cggggacgtggactgctcctGgatccggtcctccagagaca	14	13	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.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*		Somatic				ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*	p.Q61*			WXS	Illumina GAIIx	Phase_I	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	14	79	---	---	---	---	A	146824230	G	A	146824230	4	1	68	1	0	0	0	0	0	1	0	0	18177	1357	47	2	3100	2	ZNF827	4	146824230	Nonsense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		146824230	44330046	4	3259										
EEF1E1	9521	broad.mit.edu	37	chr6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cgattgctttttcttctgcaGtactccccagcaaatattct	5	12	3	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.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-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_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		Somatic				EEF1E1-BLOC1S5_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	WXS	Illumina GAIIx	Phase_I	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	18	162	---	---	---	---	A	8097597	G	A	8097597	3	1	68	1	0	0	0	0	1	0	0	0	4927	1029	36	2	385	2	EEF1E1	6	8097597	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		8097597	163017470	5	3260										
HCRTR2	3062	broad.mit.edu	37	chr6	55142195	55142195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cagatccctggaacatcatcTgtagttcagagaaaatggaa	9	8	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.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			Somatic					p.S260S	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	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	9	75	---	---	---	---	C	55142195	T	C	55142195	2	2	68	1	0	0	0	0	0	0	0	1	7002	1567	55	2		2	HCRTR2	6	55142195	Silent	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	47044598	55142195	115972872	6	3261										
FNTA	2339	broad.mit.edu	37	chr8	42914260	42914260	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	gagcagaatgggctgatataGatccggtgccgcagaatgat	14	7	0	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.chr8:42914260G>T	ENST00000302279.3	+	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	76					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)			GGCTGATATAGATCCGGTGCC	0.398																																						ENST00000302279.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(226-228)Gat>Tat		farnesyltransferase, CAAX box, alpha							78	74	75					8																	42914260		2203	4300	6503	SO:0001583	missense	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.chr8:42914260G>T	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.226G>T	8.37:g.42914260G>T	ENSP00000303423:p.Asp76Tyr		Somatic				FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D33Y|FNTA_ENST00000524546.1_3'UTR	p.D76Y	NM_002027.2	NP_002018.1	WXS	Illumina GAIIx	Phase_I	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		2	420	+	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)	76					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.226G>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688134	0.48097	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.13	5.13	0.70059	Protein prenyltransferase (1);	0.284457	0.43260	D	0.000583	T	0.35537	0.0935	N	0.24115	0.695	0.80722	D	1	B	0.28998	0.23	B	0.17979	0.02	T	0.29912	-0.9996	9	0.62326	D	0.03	-15.4757	9.7337	0.40376	0.0944:0.0:0.9056:0.0	.	76	P49354	FNTA_HUMAN	Y	33;76;58;14	.	ENSP00000303423:D76Y	D	+	1	0	FNTA;RP11-598P20.5	43033417	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.538000	0.60650	2.400000	0.81607	0.644000	0.83932	GAT		0.398	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		4	53	4	53	---	---	---	---	T	42914260	G	T	42914260	3	4	68	1	0	0	0	0	1	0	0	0	5977	942	33	3	232	3	FNTA	8	42914260	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		42914260	103449762	7	3262										
IL7	3574	broad.mit.edu	37	chr8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cagtgttctttagtgcccatCaaaattttattccaacaagt	5	9	2	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.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_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F	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		Somatic				IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L58F	p.L171F	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	WXS	Illumina GAIIx	Phase_I	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	15	103	---	---	---	---	G	79645969	C	G	79645969	3	3	68	1	0	0	0	0	1	0	0	0	7704	825	29	4	24	4	IL7	8	79645969	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	36731709	79645969	66718053	8	3263										
BAI1	575	broad.mit.edu	37	chr8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	gtggccgtggctttcgggatCgcacgcgcacctgcaggccc	15	15	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.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		Somatic				BAI1_ENST00000323289.5_Missense_Mutation_p.R432C	p.R432C			WXS	Illumina GAIIx	Phase_I	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	6	119	---	---	---	---	T	143558817	C	T	143558817	3	4	68	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	63912848	143558817	2805205	9	3264										
PNPLA7	375775	broad.mit.edu	37	chr9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C													0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	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	PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.E160fs|AL365502.1_ENST00000580317.1_RNA	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)gaafs		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		Somatic				PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.E135fs	p.E160fs	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	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	68	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		140437911	775520	10	3265										
FAM171A1	221061	broad.mit.edu	37	chr10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-													0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	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)ggcfs		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		Somatic					p.G476fs	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	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	68	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	11	3266										
ANK3	288	broad.mit.edu	37	chr10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T													0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	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_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)	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																																						ENST00000280772.2																			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.(8251-8253)atafs		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		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.I2751fs	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	8442_8443	-								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	68	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	12	3267										
MUC2	4583	broad.mit.edu	37	chr11	1081737	1081737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	acgggggccggctttgccaaCacctggaaggcacagtcaag	14	12	1	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.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			Somatic				MUC2_ENST00000359061.5_Silent_p.N555N	p.N555N	NM_002457.2	NP_002448.2	WXS	Illumina GAIIx	Phase_I	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	13	57	---	---	---	---	T	1081737	C	T	1081737	2	4	68	1	0	0	0	0	0	0	0	1	9975	477	17	2		2	MUC2	11	1081737	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		1081737	133924779	13	3268										
SLC1A2	6506	broad.mit.edu	37	chr11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	tgcccagggcagtgatccaaGcttggaaaatgccagcaaaa	11	10	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.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_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V	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		Somatic				SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V	p.A354V	NM_004171.3	NP_004162.2	WXS	Illumina GAIIx	Phase_I	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	19	419	---	---	---	---	A	35313864	G	A	35313864	3	1	68	1	0	0	0	0	1	0	0	0	14432	971	34	2	683	2	SLC1A2	11	35313864	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	34232127	35313864	99692652	14	3269										
OR4S2	219431	broad.mit.edu	37	chr11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	tgcaactgtttggagtacatTtctttggttgcactgagatc	10	7	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.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		Somatic					p.F104I	NM_001004059.2	NP_001004059.2	WXS	Illumina GAIIx	Phase_I	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	19	288	---	---	---	---	A	55418689	T	A	55418689	3	1	68	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	15	3270										
ARHGAP32	9743	broad.mit.edu	37	chr11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ttttgttggacgagacttcaTgaatgttcgtaagaacgtaa	10	5	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.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	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		Somatic				ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V	p.M350V	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	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	19	128	---	---	---	---	C	128868319	T	C	128868319	3	2	68	1	0	0	0	0	1	0	0	0	881	1464	51	2	5263	2	ARHGAP32	11	128868319	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	73449630	128868319	6138197	16	3271										
C12orf11	55726	broad.mit.edu	37	chr12	27081791	27081791	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	agaatactgcagcactctggAtctgcccgaggattaggagg	13	9	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.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		Somatic				ASUN_ENST00000539625.1_Missense_Mutation_p.D15E	p.D116E	NM_018164.2	NP_060634.2	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	C	27081791	A	C	27081791	3	2	68	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	17	3272										
MLL2	8085	broad.mit.edu	37	chr12	49430959	49430959	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ctgctgcattgccaattgctGcggcttcatgcacatggaag	11	11	1	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.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*		Somatic				KMT2D_ENST00000549743.1_5'UTR	p.Q3394*	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	8	39	---	---	---	---	A	49430959	G	A	49430959	4	1	68	1	0	0	0	0	0	1	0	0	9621	1328	46	2	6517	2	MLL2	12	49430959	Nonsense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	22349168	49430959	84420936	18	3273										
CSAD	51380	broad.mit.edu	37	chr12	53567192	53567192	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	acaaccccaaacacggcccgGagcaaggcttccacagccac	8	18	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.chr12:53567192G>A	ENST00000444623.1	-	4	330	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000267085.4_Silent_p.L48L	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			Somatic				CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L	p.L48L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	WXS	Illumina GAIIx	Phase_I	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	11	104	---	---	---	---	A	53567192	G	A	53567192	2	1	68	1	0	0	0	0	0	0	0	1	3925	1161	41	2		2	CSAD	12	53567192	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	4136233	53567192	80284703	19	3274										
SSH1	54434	broad.mit.edu	37	chr12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ttggaggttgcagctgggtcCctcggggttccctggggctc	17	11	0	0	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		Somatic				SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	p.R1023S	NM_018984.3	NP_061857.3	WXS	Illumina GAIIx	Phase_I	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	28	187	---	---	---	---	G	109181845	C	G	109181845	3	3	68	1	0	0	0	0	1	0	0	0	15183	622	22	4	84	4	SSH1	12	109181845	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	55614653	109181845	24670050	20	3275										
CLN5	1203	broad.mit.edu	37	chr13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cttttccaacttggcaactgTacatttccccatctccgacc	4	16	1	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.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		Somatic				CLN5_ENST00000485938.1_3'UTR	p.C193W	NM_006493.2	NP_006484.1	WXS	Illumina GAIIx	Phase_I	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	8	195	---	---	---	---	G	77570129	T	G	77570129	3	3	68	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	21	3276										
GRIN2A	2903	broad.mit.edu	37	chr16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	gtggaaaccaggctccttctCaccatctatagtgtagatct	8	11	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.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_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000562109.1_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	2903				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*		Somatic				GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*	p.E1123*	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	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	18	286	---	---	---	---	A	9858034	C	A	9858034	4	1	68	1	0	0	0	0	0	1	0	0	6779	835	29	3	1031	3	GRIN2A	16	9858034	Nonsense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		9858034	80496719	22	3277										
ACSM2B	348158	broad.mit.edu	37	chr16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	agccgtctcaaccacagcagGgtgcttcatcagtgcattct	9	13	4	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.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S|ACSM2B_ENST00000567288.1_5'Flank	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	13	124	---	---	---	---	A	20554289	G	A	20554289	3	1	68	1	0	0	0	0	1	0	0	0	184	1232	43	2	289	2	ACSM2B	16	20554289	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	10696255	20554289	69800464	23	3278										
KDM6B	23135	broad.mit.edu	37	chr17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ccagggtcgtgagaagtcccGgcccgatcttggcggggcct	16	13	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		Somatic				KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	p.R1035L	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	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	3	36	---	---	---	---	T	7752710	G	T	7752710	3	4	68	1	0	0	0	0	1	0	0	0	8138	1116	39	1	3134	1	KDM6B	17	7752710	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		7752710	73442500	24	3279										
BLMH	642	broad.mit.edu	37	chr17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	aacattcagacaagaaaagaTccagcatcgccctgaaacaa	6	11	1	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.chr17:28616489T>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		Somatic				BLMH_ENST00000394819.3_Intron	p.I75V	NM_000386.3	NP_000377.1	WXS	Illumina GAIIx	Phase_I	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	7	48	---	---	---	---	C	28616489	T	C	28616489	3	2	68	1	0	0	0	0	1	0	0	0	1446	1435	50	2	1184	2	BLMH	17	28616489	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	20863779	28616489	52578721	25	3280										
CCL7	6354	broad.mit.edu	37	chr17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ctttcagcccccaggggcttGctcagccaggtaaggtccct	11	15	2	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.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	85	---	---	---	---	A	32597376	G	A	32597376	3	1	68	1	0	0	0	0	1	0	0	0	2906	1319	46	2	69	2	CCL7	17	32597376	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	3980887	32597376	48597834	26	3281										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	2	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.chr17:47696432A>G	ENST00000393328.2	-	6	756	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000393331.3_Missense_Mutation_p.W131R	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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R	p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	25	212	---	---	---	---	G	47696432	A	G	47696432	3	3	68	1	0	0	0	0	1	0	0	0	15083	188	7	2	757	2	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-EJ-5531-01A-01D-1576-08	15099056	47696432	33498778	27	3282										
KIR3DL1	3811	broad.mit.edu	37	chr19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	ttccctctctccaggactctGatgaacaagaccctgaggag	9	13	2	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.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_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|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		Somatic				KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N	p.D389N	NM_013289.2	NP_037421.2	WXS	Illumina GAIIx	Phase_I				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	68	361	---	---	---	---	A	55341560	G	A	55341560	3	1	68	1	0	0	0	0	1	0	0	0	8320	1290	45	2	1199	2	KIR3DL1	19	55341560	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		55341560	3787423	28	3283										
EBP	10682	broad.mit.edu	37	chrX	48386620	48386620	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.15778251599147	4.05223880597015	0.675373134328358	1	1	0	cttcccctcctgccacccacAggccagatctatggggatgt	9	16	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.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			Somatic				EBP_ENST00000276096.6_Splice_Site		NM_006579.2	NP_006570.1	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	T	48386620	A	T	48386620	5	4	68	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	29	3284										
FLG2	388698	broad.mit.edu	37	chr1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-													0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	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)agcaatfs		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		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.SN283fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	69	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		152329411	96921210	1	3285										
SPTA1	6708	broad.mit.edu	37	chr1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	ttccgcagagctttcatactGtctccaaatgaattgagatc	7	10	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.chr1:158626393G>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																																						ENST00000368147.4																			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		Somatic					p.D953E	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			20	3039	-	all_hematologic(112;0.0378)							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	71	181	---	---	---	---	C	158626393	G	C	158626393	3	2	69	1	0	0	0	0	1	0	0	0	15115	1368	48	4	4532	4	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	6296982	158626393	90624228	2	3286										
ASTN1	460	broad.mit.edu	37	chr1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	gcagatggtggcgcagatcaGtgatgtcatactcatagccg	13	9	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.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																																						ENST00000367654.3																			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		Somatic				ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S	p.T247S	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			3	951	-								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	18	106	---	---	---	---	C	177001717	G	C	177001717	3	2	69	1	0	0	0	0	1	0	0	0	1064	1029	36	4	3232	4	ASTN1	1	177001717	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	18375324	177001717	72248904	3	3287										
UQCRC1	7384	broad.mit.edu	37	chr3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	aacatcatgtcatcgattttCattcggtcacagacaaagtg	7	9	4	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.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		Somatic					p.M363I	NM_003365.2	NP_003356.2	WXS	Illumina GAIIx	Phase_I	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	14	92	---	---	---	---	T	48638151	C	T	48638151	3	4	69	1	0	0	0	0	1	0	0	0	17016	826	29	2	373	2	UQCRC1	3	48638151	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		48638151	149384279	4	3288										
PPARGC1B	133522	broad.mit.edu	37	chr5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	ccccggtttcccaggaagacAtgcaggcgatggtgcaactc	12	13	0	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_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L	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		Somatic				PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L	p.M284L	NM_133263.3	NP_573570.3	WXS	Illumina GAIIx	Phase_I	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	31	87	---	---	---	---	T	149212486	A	T	149212486	3	4	69	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		149212486	31702774	5	3289										
SLC26A2	1836	broad.mit.edu	37	chr5	149360521	149360521	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	acaggctgccatactcagctTtctggtgtggtaacagccct	10	12	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.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			Somatic					p.L455L	NM_000112.3	NP_000103.2	WXS	Illumina GAIIx	Phase_I	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	39	92	---	---	---	---	A	149360521	T	A	149360521	2	1	69	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	6	3290										
NKAPL	222698	broad.mit.edu	37	chr6	28227527	28227527	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	aggaggctgaaggagagagaGaggattggggaattgggagc	21	2	0	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.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			Somatic					p.E126E	NM_001007531.1	NP_001007532.1	WXS	Illumina GAIIx	Phase_I	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	38	73	---	---	---	---	A	28227527	G	A	28227527	2	1	69	1	0	0	0	0	0	0	0	1	10440	933	33	2		2	NKAPL	6	28227527	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		28227527	142887540	7	3291										
WNT2	7472	broad.mit.edu	37	chr7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	gtgaaacctgtgccatcctgGttcatgaccacctggatggc	11	12	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.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		Somatic					p.N247K	NM_003391.2	NP_003382.1	WXS	Illumina GAIIx	Phase_I	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	61	120	---	---	---	---	C	116937778	G	C	116937778	3	2	69	1	0	0	0	0	1	0	0	0	17383	1252	44	4	349	4	WNT2	7	116937778	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		116937778	42200885	8	3292										
TRYX3	136541	broad.mit.edu	37	chr7	141955370	141955370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	ctcacggtaaattgcagtgtGcagctgtgatcacccaaagc	10	11	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.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		Somatic				PRSS58_ENST00000547058.2_Missense_Mutation_p.A55V	p.A55V			WXS	Illumina GAIIx	Phase_I	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	33	78	---	---	---	---	A	141955370	G	A	141955370	3	1	69	1	0	0	0	0	1	0	0	0	16601	1319	46	2	577	2	TRYX3	7	141955370	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	25017592	141955370	17183293	9	3293										
C10orf71	118461	broad.mit.edu	37	chr10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	actatggggacacgaccttgCtaagagaaccctgtcctcct	9	13	0	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.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		Somatic				C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I	p.L312I			WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	A	50531524	C	A	50531524	3	1	69	1	0	0	0	0	1	0	0	0	1614	796	28	3	936	3	C10orf71	10	50531524	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		50531524	85003223	10	3294										
FOLH1	2346	broad.mit.edu	37	chr11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	gggaatgactcccctgcataCttgttgtggctgcttggagc	13	10	0	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.chr11:49168464C>G	ENST00000256999.2	-	19	2357	c.2097G>C	c.(2095-2097)aaG>aaC	p.K699N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N|FOLH1_ENST00000340334.7_Missense_Mutation_p.K684N|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		Somatic				FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N	p.K684N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina GAIIx	Phase_I	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	4	205	---	---	---	---	G	49168464	C	G	49168464	3	3	69	1	0	0	0	0	1	0	0	0	5979	564	20	4	159	4	FOLH1	11	49168464	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		49168464	85838052	11	3295										
OR4C13	283092	broad.mit.edu	37	chr11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	tttgatcaatcttgcctgcaCtaatacccacactctaggac	5	13	3	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.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		Somatic					p.T188I	NM_001001955.2	NP_001001955.2	WXS	Illumina GAIIx	Phase_I	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	73	202	---	---	---	---	T	49974537	C	T	49974537	3	4	69	1	0	0	0	0	1	0	0	0	11047	565	20	2	565	2	OR4C13	11	49974537	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	806073	49974537	85031979	12	3296										
MYO7A	4647	broad.mit.edu	37	chr11	76868351	76868351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	gatgaaaggaactaccacgtGttctactgcatgctggaggg	13	8	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.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V	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			Somatic				MYO7A_ENST00000409619.2_Silent_p.V243V|MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V	p.V254V	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	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	11	14	---	---	---	---	A	76868351	G	A	76868351	2	1	69	1	0	0	0	0	0	0	0	1	10082	1364	48	2		2	MYO7A	11	76868351	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	26893814	76868351	58138165	13	3297										
VWF	7450	broad.mit.edu	37	chr12	6172165	6172165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	tcccagtccatctgcaggtcCtccccgtagctgaggcgcac	10	17	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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	8	21	---	---	---	---	T	6172165	C	T	6172165	2	4	69	1	0	0	0	0	0	0	0	1	17243	680	24	2		2	VWF	12	6172165	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		6172165	127679730	14	3298										
NAA25	80018	broad.mit.edu	37	chr12	112516059	112516059	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	aaacgttccaggatcatataAtaaagttcaaccttacagaa	5	8	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.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			Somatic					p.Y199Y	NM_024953.3	NP_079229.2	WXS	Illumina GAIIx	Phase_I	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	7	163	---	---	---	---	G	112516059	A	G	112516059	2	3	69	1	0	0	0	0	0	0	0	1	10121	108	4	2		2	NAA25	12	112516059	Silent	SNP	A	TCGA-EJ-5532-01A-01D-1576-08	106343894	112516059	21335836	15	3299										
FBN1	2200	broad.mit.edu	37	chr15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	gaagactgtatccaggtgggCaaatgcatctgtaggaccca	12	9	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.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		Somatic					p.C2000F	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	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	58	118	---	---	---	---	A	48736776	C	A	48736776	3	1	69	1	0	0	0	0	1	0	0	0	5702	710	25	3	2688	3	FBN1	15	48736776	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		48736776	53794616	16	3300										
DMXL2	23312	broad.mit.edu	37	chr15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	aaatattcaccatcaggagaCcattccatcaaatgtacaga	5	10	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.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_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	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*		Somatic				DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina GAIIx	Phase_I	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	3	72	---	---	---	---	T	51855614	C	T	51855614	4	4	69	1	0	0	0	0	0	1	0	0	4595	508	18	2	8734	2	DMXL2	15	51855614	Nonsense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	3118838	51855614	50675778	17	3301										
USP22	23326	broad.mit.edu	37	chr17	20910262	20910262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	agggggaaggacacatacgtGgtgatcttccgccgcagctt	14	10	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.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000537526.2_Silent_p.T411T|USP22_ENST00000455117.2_Intron	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			Somatic				USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	p.T423T	NM_015276.1	NP_056091.1	WXS	Illumina GAIIx	Phase_I	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	4	25	---	---	---	---	A	20910262	G	A	20910262	2	1	69	1	0	0	0	0	0	0	0	1	17051	1335	47	2		2	USP22	17	20910262	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		20910262	60284948	18	3302										
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	aaaatttccagtagttgcttGtgatgaatccataggcactg	9	7	0	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.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		Somatic					p.T327I	NM_006456.2	NP_006447.2	WXS	Illumina GAIIx	Phase_I	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	78	155	---	---	---	---	A	74562331	G	A	74562331	3	1	69	1	0	0	0	0	1	0	0	0	15223	1377	48	2	148	2	ST6GALNAC2	17	74562331	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	53652069	74562331	6632879	19	3303										
LILRB1	10859	broad.mit.edu	37	chr19	55148263	55148263	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.12820512820513	0	1.62962962962963	0.333333333333333	1	0	agacgggaggcaactgagccTcctccatcccaggaagggcc	13	14	0	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.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000396332.4_Silent_p.P630P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.P629P	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	10859				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)	Somatic				LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000324602.7_Silent_p.P631P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000434867.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396317.1_Silent_p.P613P	p.P629P	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	G	55148263	T	G	55148263	2	3	69	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		55148263	3980720	20	3304										
ZMYND12	84217	broad.mit.edu	37	chr1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	tggttttttggggggctttgTcagatgtagattctcgaatg	14	4	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.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		Somatic				ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	p.D300A	NM_032257.4	NP_115633.3	WXS	Illumina GAIIx	Phase_I	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	33	452	---	---	---	---	G	42898890	T	G	42898890	3	3	70	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		42898890	206351731	1	3305										
MCL1	4170	broad.mit.edu	37	chr1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gtggttgcgctgcacgccatCcccaacccgtcgtaaggtct	11	15	1	0	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		Somatic				MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	WXS	Illumina GAIIx	Phase_I	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	34	92	---	---	---	---	T	150551355	C	T	150551355	3	4	70	1	0	0	0	0	1	0	0	0	9384	855	30	2	423	2	MCL1	1	150551355	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	107652465	150551355	98699266	2	3306										
RYR2	6262	broad.mit.edu	37	chr1	237754089	237754089	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gtcttctccaagacggtggcTggagggctccctggggctgg	17	11	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.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	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			Somatic				RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A	p.A1319A	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	4	221	---	---	---	---	A	237754089	T	A	237754089	2	1	70	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	87202734	237754089	11496532	3	3307										
HEATR5B	54497	broad.mit.edu	37	chr2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gaggaaacactacaccaaaaAgggccacagaagcatcaatg	9	10	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.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		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	p.L787P	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	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	3	175	---	---	---	---	G	37283622	A	G	37283622	3	3	70	1	0	0	0	0	1	0	0	0	7032	72	3	2	3939	2	HEATR5B	2	37283622	Missense_Mutation	SNP	A	TCGA-EJ-5542-01A-01D-1576-08		37283622	205915751	4	3308										
CCDC74A	90557	broad.mit.edu	37	chr2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cctcaagtccctcctggaagGgagccagaggccccaggcag	13	15	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.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V|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	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	110	---	---	---	---	T	132290465	G	T	132290465	3	4	70	1	0	0	0	0	1	0	0	0	2847	1232	43	1	927	1	CCDC74A	2	132290465	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	95006843	132290465	110908908	5	3309										
PIKFYVE	200576	broad.mit.edu	37	chr2	209190233	209190233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ttgagggacgagggcatgagGgggctgtccaagagcagtac	18	7	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.chr2:209190233G>T	ENST00000264380.4	+	20	2856	c.2698G>T	c.(2698-2700)Ggg>Tgg	p.G900W		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	900					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						AGGGCATGAGGGGGCTGTCCA	0.498																																						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.(2698-2700)Ggg>Tgg		phosphoinositide kinase, FYVE finger containing							96	91	93					2																	209190233		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.chr2:209190233G>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.2698G>T	2.37:g.209190233G>T	ENSP00000264380:p.Gly900Trp		Somatic					p.G900W	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			20	2856	+			900					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2698G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179128	0.21787	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28895	1.59;1.76	6.07	6.07	0.98685	.	0.456886	0.21684	N	0.070670	T	0.27419	0.0673	L	0.51422	1.61	0.23287	N	0.997971	P;P	0.39831	0.69;0.69	B;B	0.39185	0.293;0.215	T	0.42732	-0.9434	10	0.66056	D	0.02	-1.14	5.9929	0.19476	0.1687:0.163:0.6683:0.0	.	900;844	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	W	900;476;844	ENSP00000264380:G900W;ENSP00000405736:G844W	ENSP00000264380:G900W	G	+	1	0	PIKFYVE	208898478	0.571000	0.26659	0.074000	0.20217	0.032000	0.12392	3.873000	0.56093	2.890000	0.99128	0.650000	0.86243	GGG		0.498	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	183	4	183	---	---	---	---	T	209190233	G	T	209190233	3	4	70	1	0	0	0	0	1	0	0	0	11924	1232	43	1	2783	1	PIKFYVE	2	209190233	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	76899768	209190233	34009140	6	3310										
FAT4	79633	broad.mit.edu	37	chr4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gatgatgatcgaggatctaaCagcaaactctcatatgttct	8	8	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.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		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	p.N2292K	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	118	391	---	---	---	---	G	126337635	C	G	126337635	3	3	70	1	0	0	0	0	1	0	0	0	5692	477	17	4	6898	4	FAT4	4	126337635	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		126337635	64816641	7	3311										
FGG	2266	broad.mit.edu	37	chr4	155532986	155532986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gagtcatgtgttaaaatcgaTgcttcatatttcataatttc	6	6	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.chr4:155532986T>C	ENST00000336098.3	-	4	410	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000404648.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A|FGG_ENST00000407946.1_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			Somatic				FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A	p.A124A	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	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	28	66	---	---	---	---	C	155532986	T	C	155532986	2	2	70	1	0	0	0	0	0	0	0	1	5870	1451	51	2		2	FGG	4	155532986	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	29195351	155532986	35621290	8	3312										
KLHL3	26249	broad.mit.edu	37	chr5	136963996	136963996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cagtcattacctgcgttgcgCcggcacatgttcatgtctgc	10	13	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.chr5:136963996C>T	ENST00000309755.4	-	13	2024	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000508657.1_Silent_p.R495R|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			Somatic				KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506873.1_5'UTR	p.R495R	NM_001257194.1	NP_001244123.1	WXS	Illumina GAIIx	Phase_I	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	23	219	---	---	---	---	T	136963996	C	T	136963996	2	4	70	1	0	0	0	0	0	0	0	1	8383	726	26	2		2	KLHL3	5	136963996	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		136963996	43951264	9	3313										
PCDHA3	56145	broad.mit.edu	37	chr5	140183011	140183011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cccacgctggtgtgctccagCgcggtggggagctggtcata	16	12	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.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_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	56145							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			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_Intron	p.S743S	NM_018906.2	NP_061729.1	WXS	Illumina GAIIx	Phase_I			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	5	288	---	---	---	---	T	140183011	C	T	140183011	2	4	70	1	0	0	0	0	0	0	0	1	11525	767	27	2		2	PCDHA3	5	140183011	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3219015	140183011	40732249	10	3314										
PCDHA7	56141	broad.mit.edu	37	chr5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	acaggttacctgctccctgaCgccccgcgttcccttcaagt	8	17	1	1	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	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_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	56141							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		Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA3_ENST00000522353.2_Intron	p.T390M	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			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	6	293	---	---	---	---	T	140215137	C	T	140215137	3	4	70	1	0	0	0	0	1	0	0	0	11529	536	19	2	1171	2	PCDHA7	5	140215137	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	32126	140215137	40700123	11	3315										
PCDHA13	56136	broad.mit.edu	37	chr5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	tgcagttccaggtgagcgcgCgcgactctggcgtgccgcct	15	14	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.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_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	56136							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		Somatic				PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.R538C	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			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	5	167	---	---	---	---	T	140263465	C	T	140263465	3	4	70	1	0	0	0	0	1	0	0	0	11523	768	27	2	1614	2	PCDHA13	5	140263465	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	48328	140263465	40651795	12	3316										
ZNF292	23036	broad.mit.edu	37	chr6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-													0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	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)agtaaafs		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		Somatic				ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	p.SK596fs	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	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	70	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	13	3317										
TYW1	55253	broad.mit.edu	37	chr7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gagtggcggtggaagatggaCcagcctgaaatgatcttgaa	15	6	1	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.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		Somatic					p.D440E	NM_018264.2	NP_060734.2	WXS	Illumina GAIIx	Phase_I	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	5	151	---	---	---	---	A	66548462	C	A	66548462	3	1	70	1	0	0	0	0	1	0	0	0	16815	506	18	3	1362	3	TYW1	7	66548462	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		66548462	92590201	14	3318										
LOXL2	4017	broad.mit.edu	37	chr8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	gcctctgtgccggtgcagtcCatggagaatggccagtagcg	15	11	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.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I	LOXL2_ENST00000518472.1_5'Flank|RP11-177H13.2_ENST00000519692.1_RNA	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		Somatic					p.M263I	NM_002318.2	NP_002309.1	WXS	Illumina GAIIx	Phase_I	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	24	61	---	---	---	---	T	23191091	C	T	23191091	3	4	70	1	0	0	0	0	1	0	0	0	8900	594	21	2	1575	2	LOXL2	8	23191091	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		23191091	123172931	15	3319										
EXTL3	2137	broad.mit.edu	37	chr8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	tccagggcctttccatctttTcccccacactccctttgacc	4	19	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.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	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		Somatic				EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	p.F614S	NM_001440.2	NP_001431.1	WXS	Illumina GAIIx	Phase_I	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	18	192	---	---	---	---	C	28575417	T	C	28575417	3	2	70	1	0	0	0	0	1	0	0	0	5327	1783	62	2	1843	2	EXTL3	8	28575417	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	5384326	28575417	117788605	16	3320										
SETX	23064	broad.mit.edu	37	chr9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cagaatcgcttgcaaagagaCtgctgcccaagctgataacc	9	12	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.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		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.Q552H|SETX_ENST00000393220.1_Missense_Mutation_p.Q552H	p.Q552H			WXS	Illumina GAIIx	Phase_I	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	4	203	---	---	---	---	A	135205329	C	A	135205329	3	1	70	1	0	0	0	0	1	0	0	0	14141	564	20	3	6445	3	SETX	9	135205329	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		135205329	6008102	17	3321										
ANKRD26	22852	broad.mit.edu	37	chr10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cacagtgattttttttaagtTctaataatctttcacatgaa	4	6	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.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	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		Somatic				ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	p.E740G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	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	7	102	---	---	---	---	C	27329050	T	C	27329050	3	2	70	1	0	0	0	0	1	0	0	0	654	1783	62	2	2969	2	ANKRD26	10	27329050	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		27329050	108205697	18	3322										
PRG3	10394	broad.mit.edu	37	chr11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	atccagatcctggcctaggtCtgcctgtgtctctaggctct	10	13	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.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		Somatic					p.D35N	NM_006093.3	NP_006084.2	WXS	Illumina GAIIx	Phase_I	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	45	115	---	---	---	---	T	57147239	C	T	57147239	3	4	70	1	0	0	0	0	1	0	0	0	12480	913	32	2	590	2	PRG3	11	57147239	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		57147239	77859277	19	3323										
SIDT2	51092	broad.mit.edu	37	chr11	117066583	117066583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ctcgacttctttgacgaccaCgacatctggcacttcctctc	6	16	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.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			Somatic				SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H	p.H796H	NM_001040455.1	NP_001035545.1	WXS	Illumina GAIIx	Phase_I	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	6	466	---	---	---	---	T	117066583	C	T	117066583	2	4	70	1	0	0	0	0	0	0	0	1	14303	535	19	2		2	SIDT2	11	117066583	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	59919344	117066583	17939933	20	3324										
LRIG3	121227	broad.mit.edu	37	chr12	59271482	59271482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cagaagctgattgcctgctgCaaaaaagtgcctctcggtta	10	10	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.chr12:59271482C>A	ENST00000320743.3	-	15	2522	c.2236G>T	c.(2236-2238)Gca>Tca	p.A746S	LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	746	Ig-like C2-type 3.				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)			TTGCCTGCTGCAAAAAAGTGC	0.488			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.(2236-2238)Gca>Tca		leucine-rich repeats and immunoglobulin-like domains 3							172	162	165					12																	59271482		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59271482C>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.2236G>T	12.37:g.59271482C>A	ENSP00000326759:p.Ala746Ser		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S	p.A746S	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2522	-			746			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2236G>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364097	0.82353	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.66099	-0.19;-0.19	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36854	N	0.002370	T	0.59891	0.2227	N	0.02916	-0.46	0.80722	D	1	P;D	0.89917	0.562;1.0	P;D	0.87578	0.544;0.998	T	0.65257	-0.6212	9	.	.	.	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	686;746	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	S	686;746	ENSP00000368436:A686S;ENSP00000326759:A746S	.	A	-	1	0	LRIG3	57557749	1.000000	0.71417	0.985000	0.45067	0.638000	0.38207	7.750000	0.85110	2.783000	0.95769	0.655000	0.94253	GCA		0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		4	222	4	222	---	---	---	---	A	59271482	C	A	59271482	3	1	70	1	0	0	0	0	1	0	0	0	8946	710	25	3	1143	3	LRIG3	12	59271482	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		59271482	74580413	21	3325										
CMA1	1215	broad.mit.edu	37	chr14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	aaggaaaccaccacaaaattTtgagggaccgttggaagtta	10	7	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.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_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		Somatic				CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	p.K49E	NM_001836.3	NP_001827.1	WXS	Illumina GAIIx	Phase_I	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	94	274	---	---	---	---	C	24976626	T	C	24976626	3	2	70	1	0	0	0	0	1	0	0	0	3574	1850	64	2	614	2	CMA1	14	24976626	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		24976626	82372914	22	3326										
PTPN21	11099	broad.mit.edu	37	chr14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	tgaaggcacataaaacaccaCtccaaaatagacggtaggtt	8	9	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.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		Somatic				PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	p.V101M	NM_007039.3	NP_008970.2	WXS	Illumina GAIIx	Phase_I	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	45	117	---	---	---	---	T	88983485	C	T	88983485	3	4	70	1	0	0	0	0	1	0	0	0	12786	565	20	2	3291	2	PTPN21	14	88983485	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	64006859	88983485	18366055	23	3327										
FBN1	2200	broad.mit.edu	37	chr15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	atgtttttagatcaggtttgTagataaatcccttggggcag	11	5	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.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		Somatic					p.Y798C	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	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	41	110	---	---	---	---	C	48788323	T	C	48788323	3	2	70	1	0	0	0	0	1	0	0	0	5702	1638	57	2	6410	2	FBN1	15	48788323	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		48788323	53743069	24	3328										
PDE8A	5151	broad.mit.edu	37	chr15	85669469	85669469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	aaaccaggaagtgataaacaCtatgcttaggactccagaga	9	8	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.chr15:85669469C>A	ENST00000310298.4	+	21	2369	c.2117C>A	c.(2116-2118)aCt>aAt	p.T706N	PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	706	Catalytic. {ECO:0000250}.				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)	p.T706N(1)		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)	GTGATAAACACTATGCTTAGG	0.458																																						ENST00000310298.4																			1	Substitution - Missense(1)	p.T706N(1)	prostate(1)	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.(2116-2118)aCt>aAt		phosphodiesterase 8A							97	91	93					15																	85669469		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.chr15:85669469C>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.2117C>A	15.37:g.85669469C>A	ENSP00000311453:p.Thr706Asn		Somatic				PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N	p.T706N			WXS	Illumina GAIIx	Phase_I	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2369	+	Colorectal(223;0.227)		706			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2117C>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885941	0.33348	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70869	-0.52;-0.52;-0.41	5.27	3.31	0.37934	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.479967	0.20511	N	0.090896	T	0.43456	0.1248	N	0.05177	-0.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19778	-1.0295	10	0.15066	T	0.55	.	7.5755	0.27933	0.3108:0.5202:0.169:0.0	.	660;706	O60658-2;O60658	.;PDE8A_HUMAN	N	706;706;660	ENSP00000311453:T706N;ENSP00000378056:T706N;ENSP00000340679:T660N	ENSP00000311453:T706N	T	+	2	0	PDE8A	83470473	0.334000	0.24739	0.012000	0.15200	0.625000	0.37756	1.105000	0.31086	1.461000	0.47929	-0.164000	0.13417	ACT		0.458	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		3	135	3	135	---	---	---	---	A	85669469	C	A	85669469	3	1	70	1	0	0	0	0	1	0	0	0	11653	565	20	3	2195	3	PDE8A	15	85669469	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	36881146	85669469	16861923	25	3329										
ZNF423	23090	broad.mit.edu	37	chr16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ctggttggcgtgggcttggtGgatatgggcgagcagtgtgt	20	5	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.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N	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		Somatic				ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	p.H315N	NM_001271620.1	NP_001258549.1	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	49672120	G	T	49672120	3	4	70	1	0	0	0	0	1	0	0	0	17895	1348	47	1	2931	1	ZNF423	16	49672120	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08		49672120	40682633	26	3330										
SMG6	23293	broad.mit.edu	37	chr17	2076132	2076132	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ttacagaaatcagccagcgtCgaccatacatccacagcaac	6	14	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.chr17:2076132C>T	ENST00000263073.6	-	13	3227	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000544865.1_Silent_p.S1028S|SMG6_ENST00000536871.2_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			Somatic				SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000263073.6_Silent_p.S1059S|SMG6_ENST00000536871.2_Silent_p.S151S	p.S1028S			WXS	Illumina GAIIx	Phase_I	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	13	61	---	---	---	---	T	2076132	C	T	2076132	2	4	70	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	27	3331										
GSDMB	55876	broad.mit.edu	37	chr17	38062140	38062140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	tccagaatggcttttgcacgCgcttctaccaagaccccagc	8	15	1	2	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_ENST00000394175.2_Silent_p.A307A|GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000418519.1_Silent_p.A329A			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			Somatic				GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000418519.1_Silent_p.A329A	p.A307A	NM_018530.2	NP_061000.2	WXS	Illumina GAIIx	Phase_I	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	80	191	---	---	---	---	T	38062140	C	T	38062140	2	4	70	1	0	0	0	0	0	0	0	1	6817	755	27	2		2	GSDMB	17	38062140	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	35986008	38062140	43133070	28	3332										
ZNF521	25925	broad.mit.edu	37	chr18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	accatatggcaggccattgaTatcaagtttcaccagatctt	7	10	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.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V	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		Somatic				ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V	p.I1085V	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	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	7	120	---	---	---	---	C	22804629	T	C	22804629	3	2	70	1	0	0	0	0	1	0	0	0	17962	1406	49	2	702	2	ZNF521	18	22804629	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		22804629	55272619	29	3333										
MLLT1	4298	broad.mit.edu	37	chr19	6216424	6216424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ccgggccgtcacctggagtcCctccccgggttggtcttgcc	13	17	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.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			Somatic				MLLT1_ENST00000585588.1_5'UTR	p.R433R	NM_005934.3	NP_005925.2	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	T	6216424	C	T	6216424	2	4	70	1	0	0	0	0	0	0	0	1	9625	622	22	2		2	MLLT1	19	6216424	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		6216424	52912559	30	3334										
OR10H2	26538	broad.mit.edu	37	chr19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	cgtctggagcgagcgcagccTccacacgcccatgtacctct	10	17	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.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		Somatic					p.L55P	NM_013939.2	NP_039227.1	WXS	Illumina GAIIx	Phase_I	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	4	196	---	---	---	---	C	15839017	T	C	15839017	3	2	70	1	0	0	0	0	1	0	0	0	10906	1551	54	2	166	2	OR10H2	19	15839017	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	9622593	15839017	43289966	31	3335										
KCNK6	9424	broad.mit.edu	37	chr19	38810914	38810914	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	acgctgatcaccaccgtgggTacgtaagcgcctcaccgcaa	10	15	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.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			Somatic				KCNK6_ENST00000588137.1_Splice_Site		NM_004823.1	NP_004814.1	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	C	38810914	T	C	38810914	5	2	70	1	0	0	0	0	0	0	1	0	8070	1652	57	2	326	2	KCNK6	19	38810914	Splice_Site	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	22971897	38810914	20318069	32	3336										
GRIK5	2901	broad.mit.edu	37	chr19	42569514	42569514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	agacgctcaccgcggccacaCactgtctgatcatccaggat	9	15	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.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_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			Somatic				GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V	p.V35V	NM_002088.4	NP_002079.3	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	T	42569514	C	T	42569514	2	4	70	1	0	0	0	0	0	0	0	1	6777	465	17	2		2	GRIK5	19	42569514	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3758600	42569514	16559469	33	3337										
SH3BP1	23616	broad.mit.edu	37	chr22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	1	1	0.556067588325653	0	0.598842018196857	1	1	0	ctccaggctcagtcaggcaaCcaagaattcaggcagcagtc	10	13	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	SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.T99N|SH3BP1_ENST00000495174.1_3'UTR	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		Somatic	OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N	p.T99N			WXS	Illumina GAIIx	Phase_I	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	4	78	---	---	---	---	A	38039665	C	A	38039665	3	1	70	1	0	0	0	0	1	0	0	0	14244	507	18	3	514	3	SH3BP1	22	38039665	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		38039665	13264901	34	3338										
PRDM16	63976	broad.mit.edu	37	chr1	3328642	3328642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	acgggctcggacctggacagCgacgtggacagcgaccctga	15	13	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.chr1:3328642C>T	ENST00000270722.5	+	9	1930	c.1881C>T	c.(1879-1881)agC>agT	p.S627S	PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000378398.3_Silent_p.S628S|PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_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			Somatic				PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.S627S	p.S628S			WXS	Illumina GAIIx	Phase_I	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	36	113	---	---	---	---	T	3328642	C	T	3328642	2	4	71	1	0	0	0	0	0	0	0	1	12457	767	27	2		2	PRDM16	1	3328642	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		3328642	245921979	1	3339										
GPBP1L1	60313	broad.mit.edu	37	chr1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tggtgaggtgaatgcagcagAgaaggcagcagcaggatcct	16	7	0	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.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		Somatic				GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	p.S211T	NM_021639.4	NP_067652.1	WXS	Illumina GAIIx	Phase_I	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	24	238	---	---	---	---	T	46105995	A	T	46105995	3	4	71	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	42777353	46105995	203144626	2	3340										
C1orf146	388649	broad.mit.edu	37	chr1	92709886	92709886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	caaaatagttttttggttttGtctgctgccctccatgggcc	9	10	1	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.chr1:92709886G>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			Somatic				C1orf146_ENST00000370375.3_Silent_p.L91L	p.L32L			WXS	Illumina GAIIx	Phase_I	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	10	25	---	---	---	---	A	92709886	G	A	92709886	2	1	71	1	0	0	0	0	0	0	0	1	2003	1368	48	2		2	C1orf146	1	92709886	Silent	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	46603891	92709886	156540735	3	3341										
PRMT6	55170	broad.mit.edu	37	chr1	107600027	107600027	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ggcttcgccacgcgctgtctCatgggccactcggagatcgt	13	14	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.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			Somatic				PRMT6_ENST00000370078.1_Silent_p.L230L	p.L171L	NM_018137.2	NP_060607.2	WXS	Illumina GAIIx	Phase_I	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	35	77	---	---	---	---	T	107600027	C	T	107600027	2	4	71	1	0	0	0	0	0	0	0	1	12540	813	29	2		2	PRMT6	1	107600027	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	14890141	107600027	141650594	4	3342										
HFE2	148738	broad.mit.edu	37	chr1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gagcttggcctctactggatAatgacttcctctttgtccaa	8	11	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.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000497365.1_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		Somatic				HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H	p.N196H	NM_213653.3	NP_998818.1	WXS	Illumina GAIIx	Phase_I	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	45	125	---	---	---	---	C	145415767	A	C	145415767	3	2	71	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	5	3343										
ETV3	2117	broad.mit.edu	37	chr1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	cctgagggcccggctcagctTgtcataattcatctgtggtt	11	11	4	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.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*	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*		Somatic				ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*	p.K89*	NM_001145312.1	NP_001138784.1	WXS	Illumina GAIIx	Phase_I	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	22	39	---	---	---	---	A	157105282	T	A	157105282	4	1	71	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	6	3344										
TACR1	6869	broad.mit.edu	37	chr2	75347894	75347894	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ggatgtatgatggccatgtaCctggaacagagaagaaagaa	13	5	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.chr2:75347894C>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)	ENST00000305249.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(388-390)agG>agC		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			Somatic				TACR1_ENST00000409848.3_Splice_Site_p.R130S	p.R130S	NM_001058.3	NP_001049.1	WXS	Illumina GAIIx	Phase_I	P25103	NK1R_HUMAN			2	1155	-								A8K150	Splice_Site	SNP	ENST00000305249.5	37	c.390G>C	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	22	38	---	---	---	---	G	75347894	C	G	75347894	5	3	71	1	0	0	0	0	0	0	1	0	15502	521	18	4	853	4	TACR1	2	75347894	Splice_Site	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		75347894	167851479	7	3345										
GGCX	2677	broad.mit.edu	37	chr2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-													0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	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_ENST00000430215.3_Frame_Shift_Del_p.HS686fs|GGCX_ENST00000473665.1_5'Flank	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																																						ENST00000233838.4																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2227-2232)cattctfs		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		Somatic				GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	p.HS743fs	NM_000821.5	NP_000812.2	WXS	Illumina GAIIx	Phase_I	P38435	VKGC_HUMAN			15	2308_2311	-								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	71	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	8	3346										
C2orf67	151050	broad.mit.edu	37	chr2	210993896	210993896	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ttccattcagtactacagttActgtgaacaaaacaaacact	4	10	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.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	KANSL1L_ENST00000457374.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V|KANSL1L_ENST00000418791.1_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.(1087-1089)gtT>gtC		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			Somatic				KANSL1L_ENST00000457374.1_Splice_Site_p.V363V|KANSL1L_ENST00000418791.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V	p.V363V	NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			3	1352	-			363					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Splice_Site	SNP	ENST00000281772.9	37	c.1089T>C	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	30	85	---	---	---	---	G	210993896	A	G	210993896	5	3	71	1	0	0	0	0	0	0	1	0	2186	405	14	2	1926	2	C2orf67	2	210993896	Splice_Site	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	125216793	210993896	32205477	9	3347										
CCDC108	255101	broad.mit.edu	37	chr2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	agatgaccctcttgttcactCtctcctgcttctttggggag	9	12	4	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.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T	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		Somatic				CCDC108_ENST00000453220.1_Missense_Mutation_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_ENST00000324264.6_Missense_Mutation_p.R71T	p.R136T	NM_194302.2	NP_919278.2	WXS	Illumina GAIIx	Phase_I	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	42	106	---	---	---	---	G	219900337	C	G	219900337	3	3	71	1	0	0	0	0	1	0	0	0	2743	913	32	4	5642	4	CCDC108	2	219900337	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	8906441	219900337	23299036	10	3348										
SLC4A7	9497	broad.mit.edu	37	chr3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	attcttacctgagaagggacActttttggtggttctatgcg	11	7	2	1	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_ENST00000425128.2_Missense_Mutation_p.S532R|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R	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		Somatic				SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R	p.S540R	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	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	8	32	---	---	---	---	C	27459989	A	C	27459989	3	2	71	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	11	3349										
LPHN3	23284	broad.mit.edu	37	chr4	62599226	62599226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tatgtatggaataactatcaCgtcgtgaaatattctttgga	8	5	2	1	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_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000512091.2_Silent_p.H383H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000506720.1_Silent_p.H451H			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																																						ENST00000512091.2																			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			Somatic				LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H	p.H383H			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			7	1896	+						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	10	32	---	---	---	---	T	62599226	C	T	62599226	2	4	71	1	0	0	0	0	0	0	0	1	8917	535	19	2		2	LPHN3	4	62599226	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		62599226	128555050	12	3350										
PCDH18	54510	broad.mit.edu	37	chr4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aaaagtgatctgactcacttCttcatgatcaaagattctga	6	8	6	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.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|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*		Somatic				PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000510305.1_Intron	p.E537*	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	48	132	---	---	---	---	A	138451634	C	A	138451634	4	1	71	1	0	0	0	0	0	1	0	0	11513	922	32	3	1814	3	PCDH18	4	138451634	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	75852408	138451634	52702642	13	3351										
KLHL2	11275	broad.mit.edu	37	chr4	166234520	166234520	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	accaggcggagtggagcaggTacatgtgaacctgttttagc	14	8	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.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000514860.1_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			Somatic				KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site		NM_007246.3	NP_009177.3	WXS	Illumina GAIIx	Phase_I	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	16	50	---	---	---	---	C	166234520	T	C	166234520	5	2	71	1	0	0	0	0	0	0	1	0	8374	1652	57	2	1558	2	KLHL2	4	166234520	Splice_Site	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	27782886	166234520	24919756	14	3352										
FRG1	2483	broad.mit.edu	37	chr4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tggccgagtactcctacgtgAagtctaccaagctcgtgctc	10	13	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.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*		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	T	190862186	A	T	190862186	4	4	71	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	15	3353										
SLC25A46	91137	broad.mit.edu	37	chr5	110097209	110097209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gctgccagtctttgttctgaCgttatactttacccattgga	8	10	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.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.D237D	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			Somatic				SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000447245.2_Silent_p.D247D	p.D328D	NM_138773.1	NP_620128.1	WXS	Illumina GAIIx	Phase_I	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	17	340	---	---	---	---	T	110097209	C	T	110097209	2	4	71	1	0	0	0	0	0	0	0	1	14511	535	19	2		2	SLC25A46	5	110097209	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		110097209	70818051	16	3354										
PCYOX1L	78991	broad.mit.edu	37	chr5	148747557	148747557	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tgtgctcttttctttccagaGgggaaagccctgtaccaggt	11	10	2	1	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.(553-555)gaG>gaA		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			Somatic	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.E275E	p.E185E			WXS	Illumina GAIIx	Phase_I	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.555G>A	CCDS4296.1																																																																																				0.532	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028	Silent	32	101	32	101	---	---	---	---	A	148747557	G	A	148747557	5	1	71	1	0	0	0	0	0	0	1	0	11609	1014	35	2	847	2	PCYOX1L	5	148747557	Splice_Site	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	38650348	148747557	32167703	17	3355										
TIMD4	91937	broad.mit.edu	37	chr5	156378526	156378526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aagatacatctgcgtacctgCagtgaggatgggcccttcct	11	11	1	2	rs540746755		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.chr5:156378526C>A	ENST00000274532.2	-	3	732	c.676G>T	c.(676-678)Gca>Tca	p.A226S	TIMD4_ENST00000407087.3_Missense_Mutation_p.A226S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	226						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)			TGCGTACCTGCAGTGAGGATG	0.532																																						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.(676-678)Gca>Tca		T-cell immunoglobulin and mucin domain containing 4							145	133	137					5																	156378526		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378526C>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.676G>T	5.37:g.156378526C>A	ENSP00000274532:p.Ala226Ser		Somatic				TIMD4_ENST00000407087.3_Missense_Mutation_p.A226S	p.A226S	NM_138379.2	NP_612388.2	WXS	Illumina GAIIx	Phase_I	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	732	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	226					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.676G>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457035	0.12283	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.23348	1.91;2.14	3.87	-0.307	0.12777	.	0.695667	0.12460	N	0.466964	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	P;P	0.43094	0.799;0.799	B;B	0.36845	0.234;0.234	T	0.13764	-1.0497	10	0.40728	T	0.16	.	2.9398	0.05826	0.1952:0.431:0.0:0.3738	.	226;226	B5MCL9;Q96H15	.;TIMD4_HUMAN	S	226	ENSP00000274532:A226S;ENSP00000385973:A226S	ENSP00000274532:A226S	A	-	1	0	TIMD4	156311104	0.001000	0.12720	0.095000	0.20976	0.081000	0.17604	-0.930000	0.03972	-0.069000	0.12931	0.561000	0.74099	GCA		0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		5	73	5	73	---	---	---	---	A	156378526	C	A	156378526	3	1	71	1	0	0	0	0	1	0	0	0	15900	710	25	3	488	3	TIMD4	5	156378526	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	7630969	156378526	24536734	18	3356										
FILIP1	27145	broad.mit.edu	37	chr6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gggccaagagtagtatctccActtttttgtttttgaggcat	10	7	1	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.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_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R	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		Somatic				FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R	p.S967R			WXS	Illumina GAIIx	Phase_I	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	40	94	---	---	---	---	C	76022647	A	C	76022647	3	2	71	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	19	3357										
MAP3K7	6885	broad.mit.edu	37	chr6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-													0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	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_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del	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)caacta>cta		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		Somatic				MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR	p.Q591del	NM_145331.2	NP_663304.1	WXS	Illumina GAIIx	Phase_I	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	71	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	20	3358										
ASCC3	10973	broad.mit.edu	37	chr6	101098516	101098516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	attttcccataactattctcTacacctccaggagtggagag	7	11	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.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			Somatic					p.V1050V	NM_006828.2	NP_006819.2	WXS	Illumina GAIIx	Phase_I	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	28	40	---	---	---	---	C	101098516	T	C	101098516	2	2	71	1	0	0	0	0	0	0	0	1	1033	1509	53	2		2	ASCC3	6	101098516	Silent	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	9872249	101098516	70016551	21	3359										
LRGUK	136332	broad.mit.edu	37	chr7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aatttcaagccacccaaaaaCctcaaggtagactttatgaa	5	10	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.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		Somatic					p.N194K	NM_144648.1	NP_653249.1	WXS	Illumina GAIIx	Phase_I	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	5	103	---	---	---	---	A	133827909	C	A	133827909	3	1	71	1	0	0	0	0	1	0	0	0	8943	506	18	3	596	3	LRGUK	7	133827909	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		133827909	25310754	22	3360										
SPAG1	6674	broad.mit.edu	37	chr8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tggttattcaggaaatagaaAactccgaagatgaagaagga	11	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.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		Somatic				SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y|SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y	p.N346Y	NM_003114.4	NP_003105.2	WXS	Illumina GAIIx	Phase_I	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	9	20	---	---	---	---	T	101206436	A	T	101206436	3	4	71	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		101206436	45157586	23	3361										
SCUBE2	57758	broad.mit.edu	37	chr11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	tctgagcgtgcggatggcttTacggagccgcttctcggttc	14	11	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.chr11:9069059T>C	ENST00000309263.3	-	15	1831	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|SCUBE2_ENST00000457346.2_Missense_Mutation_p.K616E|RP11-467K18.2_ENST00000531592.1_RNA			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		Somatic				SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E	p.K616E			WXS	Illumina GAIIx	Phase_I	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	15	62	---	---	---	---	C	9069059	T	C	9069059	3	2	71	1	0	0	0	0	1	0	0	0	13945	1763	61	2	1272	2	SCUBE2	11	9069059	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		9069059	125937457	24	3362										
MRGPRX2	117194	broad.mit.edu	37	chr11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gggcggcggcagcgataccaGatgggccacaggacggacag	18	11	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.chr11:19077545G>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		Somatic					p.I135M	NM_054030.2	NP_473371.1	WXS	Illumina GAIIx	Phase_I	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	7	108	---	---	---	---	C	19077545	G	C	19077545	3	2	71	1	0	0	0	0	1	0	0	0	9767	932	33	4	591	4	MRGPRX2	11	19077545	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	10008486	19077545	115928971	25	3363										
DGKZ	8525	broad.mit.edu	37	chr11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ctggggccaccctggggagcAccacgactttgagccccagc	13	16	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_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000543978.1_Intron	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		Somatic				DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R	p.H735R	NM_001105540.1	NP_001099010.1	WXS	Illumina GAIIx	Phase_I	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	9	31	---	---	---	---	G	46396525	A	G	46396525	3	3	71	1	0	0	0	0	1	0	0	0	4474	159	6	2	2725	2	DGKZ	11	46396525	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	27318980	46396525	88609991	26	3364										
SIPA1	6494	broad.mit.edu	37	chr11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gctgagccccagctgcctgcGcctgggctcagcttcaccca	11	18	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.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		Somatic				SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H	p.R309H	NM_153253.29	NP_694985.29	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	A	65410052	G	A	65410052	3	1	71	1	0	0	0	0	1	0	0	0	14328	1087	38	2	936	2	SIPA1	11	65410052	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	19013527	65410052	69596464	27	3365										
PTPRO	5800	broad.mit.edu	37	chr12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ttgtcaattttgcatccttaGagagggatggaaagcttcca	10	7	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.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|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*		Somatic				PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|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*	p.E867*	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	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	21	49	---	---	---	---	T	15710429	G	T	15710429	4	4	71	1	0	0	0	0	0	1	0	0	12809	943	33	3	2661	3	PTPRO	12	15710429	Nonsense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		15710429	118141466	28	3366										
ALOX5AP	241	broad.mit.edu	37	chr13	31318197	31318197	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	caaaccttttcccttggcagGattctttgcccataaagtgg	8	11	1	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.chr13:31318197G>T	ENST00000380490.3	+	2	169	c.71G>T	c.(70-72)gGa>gTa	p.G24V	ALOX5AP_ENST00000479597.1_3'UTR	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	24	Inhibitor binding.				arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|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)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CCCTTGGCAGGATTCTTTGCC	0.493																																						ENST00000380490.3																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(70-72)gGa>gTa		arachidonate 5-lipoxygenase-activating protein							81	74	76					13																	31318197		2203	4300	6503	SO:0001630	splice_region_variant	241				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding	g.chr13:31318197G>T	AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"five-lipoxygenase activating protein", "MK-886-binding protein"	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.71-1G>T	13.37:g.31318197G>T			Somatic				ALOX5AP_ENST00000479597.1_3'UTR	p.G24V	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	WXS	Illumina GAIIx	Phase_I	P20292	AL5AP_HUMAN		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)	2	169	+		Lung SC(185;0.0257)|Breast(139;0.203)	24			Inhibitor binding.		Q5VV04	Splice_Site	SNP	ENST00000380490.3	37	c.71G>T	CCDS9337.1	.	.	.	.	.	.	.	.	.	.	G	6.713	0.500212	0.12762	.	.	ENSG00000132965	ENST00000380490	T	0.66815	-0.23	5.78	1.89	0.25635	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.395636	0.28853	N	0.013927	T	0.42154	0.1190	N	0.01874	-0.695	0.52099	D	0.999949	P	0.45531	0.86	B	0.43916	0.436	T	0.32903	-0.9889	9	.	.	.	.	15.3577	0.74440	0.0:0.5523:0.4477:0.0	.	24	P20292	AL5AP_HUMAN	V	24	ENSP00000369858:G24V	.	G	+	2	0	ALOX5AP	30216197	0.142000	0.22610	0.524000	0.27887	0.454000	0.32378	0.213000	0.17521	0.033000	0.15463	-0.315000	0.08773	GGA		0.493	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629	Missense_Mutation	3	29	3	29	---	---	---	---	T	31318197	G	T	31318197	5	4	71	1	0	0	0	0	0	0	1	0	541	1188	41	3	77	3	ALOX5AP	13	31318197	Splice_Site	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		31318197	83851681	29	3367										
C13orf31	144811	broad.mit.edu	37	chr13	44464253	44464253	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aaaatatttttcctaaggatTcttctagaacagggaggaat	8	5	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.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			Somatic				LACC1_ENST00000325686.6_Silent_p.I379I	p.I379I	NM_001128303.1	NP_001121775.1	WXS	Illumina GAIIx	Phase_I	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	6	65	---	---	---	---	C	44464253	T	C	44464253	2	2	71	1	0	0	0	0	0	0	0	1	1726	1771	62	2		2	C13orf31	13	44464253	Silent	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	13146056	44464253	70705625	30	3368										
EZH1	2145	broad.mit.edu	37	chr17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gtcactgtctccttctttagTctcagccacagcagaggctg	9	13	4	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.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A			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		Somatic				EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A	p.T383A			WXS	Illumina GAIIx	Phase_I	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	40	68	---	---	---	---	C	40865284	T	C	40865284	3	2	71	1	0	0	0	0	1	0	0	0	5333	1667	58	2	1140	2	EZH1	17	40865284	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		40865284	40329926	31	3369										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	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.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_ENST00000347630.2_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_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	WXS	Illumina GAIIx	Phase_I	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	51	126	---	---	---	---	C	47696432	A	C	47696432	3	2	71	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	32	3370										
TCF4	6925	broad.mit.edu	37	chr18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	ctggtgaggccaacctacctCtgtaagggtcctggggtggg	16	10	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.chr18:52901781C>T	ENST00000356073.4	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000354452.3_Missense_Mutation_p.R495K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K	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		Somatic	OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K	p.R495K	NM_001083962.1	NP_001077431.1	WXS	Illumina GAIIx	Phase_I	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	25	77	---	---	---	---	T	52901781	C	T	52901781	3	4	71	1	0	0	0	0	1	0	0	0	15692	913	32	2	547	2	TCF4	18	52901781	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		52901781	25175467	33	3371										
ZNF230	7773	broad.mit.edu	37	chr19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	agaccacaatggagaaaactCatccaaatgtgaggactgtg	10	8	1	3	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*		Somatic					p.S447*	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	A	44515531	C	A	44515531	4	1	71	1	0	0	0	0	0	1	0	0	17781	838	29	3	1354	3	ZNF230	19	44515531	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		44515531	14613452	34	3372										
TIAM1	7074	broad.mit.edu	37	chr21	32617835	32617835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aggcatcacccagggaattgCtgaggcagaagacaaagtcc	12	10	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.chr21:32617835C>A	ENST00000286827.3	-	7	2024	c.1553G>T	c.(1552-1554)aGc>aTc	p.S518I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S518I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	518	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CAGGGAATTGCTGAGGCAGAA	0.522																																						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.(1552-1554)aGc>aTc		T-cell lymphoma invasion and metastasis 1							89	83	85					21																	32617835		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.chr21:32617835C>A		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.1553G>T	21.37:g.32617835C>A	ENSP00000286827:p.Ser518Ile		Somatic				TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S518I	p.S518I	NM_003253.2	NP_003244.2	WXS	Illumina GAIIx	Phase_I	Q13009	TIAM1_HUMAN			7	2024	-			518			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1553G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983007	0.93044	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.32023	1.47;1.47	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.54470	-0.8289	10	0.87932	D	0	.	18.7003	0.91618	0.0:1.0:0.0:0.0	.	518;518;359;518	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	I	518;359;518	ENSP00000286827:S518I;ENSP00000441570:S518I	ENSP00000286827:S518I	S	-	2	0	TIAM1	31539706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.628000	0.83189	2.652000	0.90054	0.491000	0.48974	AGC		0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		4	56	4	56	---	---	---	---	A	32617835	C	A	32617835	3	1	71	1	0	0	0	0	1	0	0	0	15887	797	28	3	3314	3	TIAM1	21	32617835	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		32617835	15512060	35	3373										
DEPDC5	9681	broad.mit.edu	37	chr22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aacccaggacaggagtccagCtgctctctgaacagaagggc	12	12	1	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.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1193					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						AGGAGTCCAGCTGCTCTCTGA	0.572																																						ENST00000400246.1																			0				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.(3577-3579)Ctg>Atg		DEP domain containing 5							42	45	44					22																	32270272		2047	4195	6242	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32270272C>A	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.3550C>A	22.37:g.32270272C>A	ENSP00000371546:p.Leu1184Met		Somatic				DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M	p.L1193M			WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			36	3719	+			1162			DEP.		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3577C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|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;0.999;0.998;0.999;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		3	19	3	19	---	---	---	---	A	32270272	C	A	32270272	3	1	71	1	0	0	0	0	1	0	0	0	4442	796	28	3	3706	3	DEPDC5	22	32270272	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		32270272	19034294	36	3374										
PMM1	5372	broad.mit.edu	37	chr22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	gagcagtcgtccgtgcttatActgcaccgtcccgttctcgg	11	14	1	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.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		Somatic				PMM1_ENST00000466645.1_5'UTR	p.Y85D	NM_002676.2	NP_002667.2	WXS	Illumina GAIIx	Phase_I	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	4	91	---	---	---	---	C	41980560	A	C	41980560	3	2	71	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	9710288	41980560	9324006	37	3375										
PLXNB3	5365	broad.mit.edu	37	chrX	153039436	153039436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.930579858446434	2.33644859813084	4.67289719626168	1.55763239875389	1	1	0	aacgtgcaagtggacttcgcCagtgccagtgggggccaggg	17	10	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.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			Somatic				PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000538776.1_Silent_p.A787A|PLXNB3_ENST00000361971.5_Silent_p.A1134A	p.A1157A	NM_001163257.1	NP_001156729.1	WXS	Illumina GAIIx	Phase_I	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	28	24	---	---	---	---	T	153039436	C	T	153039436	2	4	71	1	0	0	0	0	0	0	0	1	12125	581	21	2		2	PLXNB3	23	153039436	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		153039436	2231124	38	3376										
MEGF6	1953	broad.mit.edu	37	chr1	3519044	3519044	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	acttacctccgctcatgaccCacgcaccacgcctgccaccc	5	22	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.chr1:3519044C>A	ENST00000356575.4	-	2	478	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	84	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)		GCTCATGACCCACGCACCACG	0.697																																					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.(250-252)gtG>gtT		multiple EGF-like-domains 6							26	33	30					1																	3519044		2099	4197	6296	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3519044C>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.252G>T	1.37:g.3519044C>A			Somatic					p.V84V	NM_001409.3	NP_001400.3	WXS	Illumina GAIIx	Phase_I	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)	2	478	-	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)	84			EMI.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.252G>T	CCDS41237.1																																																																																				0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		5	42	5	42	---	---	---	---	A	3519044	C	A	3519044	2	1	72	1	0	0	0	0	0	0	0	1	9462	581	21	1		1	MEGF6	1	3519044	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		3519044	245731577	1	3377										
PRAMEF12	390999	broad.mit.edu	37	chr1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ggcttgatgcactgcttgccCagaaggttcgccccaggtga	13	12	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.chr1:12835281C>A	ENST00000357726.4	+	1	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	91					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)		ACTGCTTGCCCAGAAGGTTCG	0.597																																						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.(271-273)Cag>Aag		PRAME family member 12							72	76	74					1																	12835281		2199	4300	6499	SO:0001583	missense	390999							g.chr1:12835281C>A		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.271C>A	1.37:g.12835281C>A	ENSP00000350358:p.Gln91Lys		Somatic					p.Q91K	NM_001080830.1	NP_001074299.1	WXS	Illumina GAIIx	Phase_I	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)	1	298	+	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)	91						Missense_Mutation	SNP	ENST00000357726.4	37	c.271C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.731611	0.48939	.	.	ENSG00000116726	ENST00000357726	T	0.16897	2.31	2.68	1.71	0.24356	.	0.480529	0.21252	N	0.077635	T	0.29093	0.0723	M	0.84585	2.705	0.09310	N	0.999998	P	0.40660	0.726	P	0.46026	0.501	T	0.09707	-1.0662	10	0.52906	T	0.07	.	9.409	0.38480	0.0:0.7788:0.2212:0.0	.	91	O95522	PRA12_HUMAN	K	91	ENSP00000350358:Q91K	ENSP00000350358:Q91K	Q	+	1	0	PRAMEF12	12757868	0.037000	0.19845	0.062000	0.19696	0.428000	0.31595	0.751000	0.26348	0.634000	0.30469	0.195000	0.17529	CAG		0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		5	105	5	105	---	---	---	---	A	12835281	C	A	12835281	3	1	72	1	0	0	0	0	1	0	0	0	12428	595	21	1	273	1	PRAMEF12	1	12835281	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	9316237	12835281	236415340	2	3378										
MAGOH	4116	broad.mit.edu	37	chr1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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)cttfs		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		Somatic				MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	p.L136fs	NM_002370.3	NP_002361.1	WXS	Illumina GAIIx	Phase_I	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	72	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	40857470	53692751	195557870	3	3379										
ACOT11	26027	broad.mit.edu	37	chr1	55069594	55069594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ggtgcccctctccgtcccctGggaccctagcaaccaggtaa	10	17	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.chr1:55069594G>T	ENST00000371316.3	+	11	1218	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	379	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCCGTCCCCTGGGACCCTAGC	0.582																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1135-1137)tGg>tTg		acyl-CoA thioesterase 11							109	98	101					1																	55069594		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55069594G>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1136G>T	1.37:g.55069594G>T	ENSP00000360366:p.Trp379Leu		Somatic				ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	p.W379L	NM_015547.3	NP_056362.1	WXS	Illumina GAIIx	Phase_I	Q8WXI4	ACO11_HUMAN			11	1218	+			379			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1136G>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063426	0.93898	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	D;D	0.82711	-1.64;-1.64	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.927;0.94	D	0.91704	0.5376	10	0.59425	D	0.04	-13.3954	19.2569	0.93949	0.0:0.0:1.0:0.0	.	379;379	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	379	ENSP00000340260:W379L;ENSP00000360366:W379L	ENSP00000340260:W379L	W	+	2	0	ACOT11	54842182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.995000	0.93534	2.561000	0.86390	0.561000	0.74099	TGG		0.582	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		6	90	6	90	---	---	---	---	T	55069594	G	T	55069594	3	4	72	1	0	0	0	0	1	0	0	0	149	1357	47	1	1178	1	ACOT11	1	55069594	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1376843	55069594	194181027	4	3380										
C1orf177	163747	broad.mit.edu	37	chr1	55280671	55280671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cattcctgttgacctccaagGggtcaggtgcaaaggcctgc	12	12	1	1	rs376296387		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.chr1:55280671G>T	ENST00000371273.3	+	8	1024	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	C1orf177_ENST00000358193.3_Missense_Mutation_p.G337W	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	337										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GACCTCCAAGGGGTCAGGTGC	0.552																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(1009-1011)Ggg>Tgg		chromosome 1 open reading frame 177							117	123	121					1																	55280671		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55280671G>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.1009G>T	1.37:g.55280671G>T	ENSP00000360320:p.Gly337Trp		Somatic				C1orf177_ENST00000371273.3_Missense_Mutation_p.G337W	p.G337W	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	Q3ZCV2	CA177_HUMAN			8	1063	+			337					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.1009G>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	3.695	-0.062637	0.07273	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22945	1.93;1.93	4.75	-0.971	0.10303	.	0.088609	0.45606	D	0.000348	T	0.15825	0.0381	N	0.02011	-0.69	0.18873	N	0.999988	D;D	0.57257	0.979;0.979	P;P	0.59115	0.852;0.852	T	0.22765	-1.0207	10	0.56958	D	0.05	-1.7015	8.2726	0.31853	0.55:0.3024:0.1476:0.0	.	337;337	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	W	337	ENSP00000350924:G337W;ENSP00000360320:G337W	ENSP00000350924:G337W	G	+	1	0	C1orf177	55053259	0.896000	0.30565	0.492000	0.27490	0.005000	0.04900	-0.010000	0.12743	0.026000	0.15269	-0.344000	0.07964	GGG		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		7	186	7	186	---	---	---	---	T	55280671	G	T	55280671	3	4	72	1	0	0	0	0	1	0	0	0	2017	1232	43	1	1039	1	C1orf177	1	55280671	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	211077	55280671	193969950	5	3381										
SYDE2	84144	broad.mit.edu	37	chr1	85666010	85666010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tttcaaagcgcccacatttgGggaggctgcctgcgttcctg	12	12	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.chr1:85666010G>T	ENST00000341460.5	-	1	719	c.670C>A	c.(670-672)Cca>Aca	p.P224T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	224					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)		CCCACATTTGGGGAGGCTGCC	0.557																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(670-672)Cca>Aca		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							85	92	90					1																	85666010		1999	4160	6159	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85666010G>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.670C>A	1.37:g.85666010G>T	ENSP00000340594:p.Pro224Thr		Somatic					p.P224T	NM_032184.1	NP_115560.1	WXS	Illumina GAIIx	Phase_I	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	1	719	-			224					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.670C>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526508	0.27299	.	.	ENSG00000097096	ENST00000341460	T	0.07327	3.2	5.44	2.44	0.29823	.	0.760985	0.11954	N	0.513374	T	0.03011	0.0089	M	0.63428	1.95	0.09310	N	1	B;P	0.34724	0.22;0.465	B;B	0.31101	0.086;0.124	T	0.40776	-0.9545	10	0.72032	D	0.01	.	4.9866	0.14192	0.2301:0.2988:0.4711:0.0	.	224;224	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	T	224	ENSP00000340594:P224T	ENSP00000340594:P224T	P	-	1	0	SYDE2	85438598	0.983000	0.35010	0.006000	0.13384	0.411000	0.31082	0.762000	0.26503	0.239000	0.21243	0.561000	0.74099	CCA		0.557	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	133	6	133	---	---	---	---	T	85666010	G	T	85666010	3	4	72	1	0	0	0	0	1	0	0	0	15433	1232	43	1	2942	1	SYDE2	1	85666010	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	30385339	85666010	163584611	6	3382										
CLCA2	9635	broad.mit.edu	37	chr1	86900283	86900283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtgcagcctcagaagtgcatGggatgtaatcacagactctg	12	9	3	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.chr1:86900283G>T	ENST00000370565.4	+	6	989	c.827G>T	c.(826-828)tGg>tTg	p.W276L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	276					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)		AGAAGTGCATGGGATGTAATC	0.478																																					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.(826-828)tGg>tTg		chloride channel accessory 2							188	164	172					1																	86900283		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86900283G>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.827G>T	1.37:g.86900283G>T	ENSP00000359596:p.Trp276Leu		Somatic					p.W276L	NM_006536.5	NP_006527.1	WXS	Illumina GAIIx	Phase_I	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	6	989	+		Lung NSC(277;0.238)	276					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.827G>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659609	0.88154	.	.	ENSG00000137975	ENST00000370565	T	0.04317	3.65	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.91140	3.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.03453	-1.1035	10	0.54805	T	0.06	-6.115	20.4745	0.99168	0.0:0.0:1.0:0.0	.	276	Q9UQC9	CLCA2_HUMAN	L	276	ENSP00000359596:W276L	ENSP00000359596:W276L	W	+	2	0	CLCA2	86672871	1.000000	0.71417	0.998000	0.56505	0.703000	0.40648	7.006000	0.76329	2.941000	0.99782	0.655000	0.94253	TGG		0.478	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		5	138	5	138	---	---	---	---	T	86900283	G	T	86900283	3	4	72	1	0	0	0	0	1	0	0	0	3458	1357	47	1	849	1	CLCA2	1	86900283	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1234273	86900283	162350338	7	3383										
HFM1	164045	broad.mit.edu	37	chr1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atttgcagaatactgaaattTttgcttactattgctatagt	6	5	0	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.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	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)	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		Somatic				HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K212E	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	C	91851252	T	C	91851252	3	2	72	1	0	0	0	0	1	0	0	0	7083	1850	64	2	3813	2	HFM1	1	91851252	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	4950969	91851252	157399369	8	3384										
GLMN	11146	broad.mit.edu	37	chr1	92729219	92729219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aatctgtttctgcaccctctGggagaaaaagtaccaaatca	7	10	4	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.chr1:92729219G>T	ENST00000370360.3	-	15	1451	c.1370C>A	c.(1369-1371)cCa>cAa	p.P457Q	GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	457					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGCACCCTCTGGGAGAAAAAG	0.373									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(1369-1371)cCa>cAa		glomulin, FKBP associated protein							178	179	179					1																	92729219		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92729219G>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1370C>A	1.37:g.92729219G>T	ENSP00000359385:p.Pro457Gln		Somatic				GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	p.P457Q	NM_053274.2	NP_444504.1	WXS	Illumina GAIIx	Phase_I	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	15	1451	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	457					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.1370C>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.519222	0.85495	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.45276	0.9;0.9	5.88	5.88	0.94601	.	0.049524	0.85682	D	0.000000	T	0.60881	0.2303	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.62576	-0.6825	10	0.87932	D	0	-6.2907	19.2322	0.93845	0.0:0.0:1.0:0.0	.	443;457	B4DJ85;Q92990	.;GLMN_HUMAN	Q	457;443	ENSP00000359385:P457Q;ENSP00000440156:P443Q	ENSP00000359385:P457Q	P	-	2	0	GLMN	92501807	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.627000	0.74258	2.774000	0.95407	0.655000	0.94253	CCA		0.373	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		5	148	5	148	---	---	---	---	T	92729219	G	T	92729219	3	4	72	1	0	0	0	0	1	0	0	0	6448	1348	47	1	434	1	GLMN	1	92729219	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	877967	92729219	156521402	9	3385										
FLG2	388698	broad.mit.edu	37	chr1	152328017	152328017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ggattgtcctgagccagaccCatgttgtccaaagccagagg	12	11	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.chr1:152328017C>A	ENST00000388718.5	-	3	2317	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	749	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)			GAGCCAGACCCATGTTGTCCA	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.(2245-2247)Ggg>Tgg		filaggrin family member 2							290	275	280					1																	152328017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328017C>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.2245G>T	1.37:g.152328017C>A	ENSP00000373370:p.Gly749Trp		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G749W	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		749			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332893	0.41297	.	.	ENSG00000143520	ENST00000388718	T	0.21543	2.0	5.17	5.17	0.71159	.	.	.	.	.	T	0.30854	0.0778	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07809	-1.0753	9	0.66056	D	0.02	-2.9337	16.1506	0.81618	0.0:1.0:0.0:0.0	.	749	Q5D862	FILA2_HUMAN	W	749	ENSP00000373370:G749W	ENSP00000373370:G749W	G	-	1	0	FLG2	150594641	0.000000	0.05858	0.017000	0.16124	0.012000	0.07955	0.972000	0.29409	2.419000	0.82065	0.609000	0.83330	GGG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	413	8	413	---	---	---	---	A	152328017	C	A	152328017	3	1	72	1	0	0	0	0	1	0	0	0	5923	594	21	1	4934	1	FLG2	1	152328017	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	59598798	152328017	96922604	10	3386										
COPA	1314	broad.mit.edu	37	chr1	160275314	160275314	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	actcttgacacgaatgttctCatgaatgttacataaagcat	6	8	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.chr1:160275314C>A	ENST00000241704.7	-	17	1805	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	526					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)			CGAATGTTCTCATGAATGTTA	0.448																																						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.(1576-1578)Gag>Tag		coatomer protein complex, subunit alpha							123	116	118					1																	160275314		2203	4300	6503	SO:0001587	stop_gained	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.chr1:160275314C>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.1576G>T	1.37:g.160275314C>A	ENSP00000241704:p.Glu526*		Somatic				COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	p.E526*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	WXS	Illumina GAIIx	Phase_I	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	1805	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		526					Q5T201|Q8IXZ9	Nonsense_Mutation	SNP	ENST00000241704.7	37	c.1576G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	39	7.386583	0.98252	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.64	5.64	0.86602	.	0.098474	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6101	16.5532	0.84477	0.0:1.0:0.0:0.0	.	.	.	.	X	535;526	.	ENSP00000241704:E526X	E	-	1	0	COPA	158541938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.231000	0.78106	2.937000	0.99478	0.650000	0.86243	GAG		0.448	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	93	6	93	---	---	---	---	A	160275314	C	A	160275314	4	1	72	1	0	0	0	0	0	1	0	0	3727	835	29	3	2166	3	COPA	1	160275314	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7947297	160275314	88975307	11	3387										
F13B	2165	broad.mit.edu	37	chr1	197009754	197009754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagctggataagtatctcctCtacaaataaactcaatatat	4	9	3	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.chr1:197009754C>A	ENST00000367412.1	-	11	1893	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	617	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						AGTATCTCCTCTACAAATAAA	0.308																																						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.(1849-1851)aGa>aTa		coagulation factor XIII, B polypeptide							72	72	72					1																	197009754		2201	4293	6494	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197009754C>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.1850G>T	1.37:g.197009754C>A	ENSP00000356382:p.Arg617Ile		Somatic				F13B_ENST00000490002.1_5'UTR	p.R617I	NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	P05160	F13B_HUMAN			11	1893	-			617			Sushi 10.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1850G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761779	0.31228	.	.	ENSG00000143278	ENST00000367412	D	0.83250	-1.7	5.59	-8.23	0.01033	Complement control module (1);	0.559395	0.13654	N	0.372062	T	0.59555	0.2202	N	0.20685	0.6	0.25977	N	0.982429	B	0.29037	0.231	B	0.21546	0.035	T	0.48068	-0.9067	10	0.72032	D	0.01	.	2.9786	0.05946	0.0886:0.2299:0.1955:0.486	.	617	P05160	F13B_HUMAN	I	617	ENSP00000356382:R617I	ENSP00000356382:R617I	R	-	2	0	F13B	195276377	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	-0.161000	0.10026	-1.808000	0.01234	-0.150000	0.13652	AGA		0.308	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		5	55	5	55	---	---	---	---	A	197009754	C	A	197009754	3	1	72	1	0	0	0	0	1	0	0	0	5341	913	32	3	143	3	F13B	1	197009754	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	36734440	197009754	52240867	12	3388										
CD46	4179	broad.mit.edu	37	chr1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tatcaggatttggaaaaaaaTtttactacaaagcaacagtt	6	5	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.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR	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		Somatic				CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|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_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I	p.F246I	NM_002389.4	NP_002380.3	WXS	Illumina GAIIx	Phase_I	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	10	45	---	---	---	---	A	207940420	T	A	207940420	3	1	72	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	10930666	207940420	41310201	13	3389										
TTC31	64427	broad.mit.edu	37	chr2	74719548	74719548	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccccggggcctcttccgcctGggcaaggccttgatgggact	14	15	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.chr2:74719548G>T	ENST00000233623.5	+	11	1144	c.1137G>T	c.(1135-1137)ctG>ctT	p.L379L	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	379										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTCCGCCTGGGCAAGGCCT	0.617																																						ENST00000233623.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(1135-1137)ctG>ctT		tetratricopeptide repeat domain 31							46	45	45					2																	74719548		1854	4090	5944	SO:0001819	synonymous_variant	64427						binding	g.chr2:74719548G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1137G>T	2.37:g.74719548G>T			Somatic				TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	p.L379L	NM_022492.4	NP_071937.4	WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			11	1144	+			379					Q4KN40|Q53FD4|Q9H9F7	Silent	SNP	ENST00000233623.5	37	c.1137G>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	8.706	0.911006	0.17833	.	.	ENSG00000115282	ENST00000414247	.	.	.	4.2	1.12	0.20585	.	.	.	.	.	T	0.45975	0.1369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	.	4.0024	0.09585	0.2271:0.1978:0.575:0.0	.	.	.	.	L	117	.	.	W	+	2	0	TTC31	74573056	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.523000	0.35932	0.367000	0.24454	0.561000	0.74099	TGG		0.617	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		5	92	5	92	---	---	---	---	T	74719548	G	T	74719548	2	4	72	1	0	0	0	0	0	0	0	1	16697	1335	47	1		1	TTC31	2	74719548	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		74719548	168479825	14	3390										
FABP1	2168	broad.mit.edu	37	chr2	88425739	88425739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctccagctcacattcctcccCcaccgtgaattcgttttgga	6	16	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.chr2:88425739C>A	ENST00000295834.3	-	2	294	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FABP1_ENST00000393750.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	66					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCCTCCCCCACCGTGAAT	0.532																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(196-198)Ggg>Tgg		fatty acid binding protein 1, liver							312	265	281					2																	88425739		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88425739C>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"Fatty acid binding protein family"	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.196G>T	2.37:g.88425739C>A	ENSP00000295834:p.Gly66Trp		Somatic				FABP1_ENST00000295834.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR	p.G66W			WXS	Illumina GAIIx	Phase_I	P07148	FABPL_HUMAN			2	227	-			66						Missense_Mutation	SNP	ENST00000295834.3	37	c.196G>T	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268242	0.59540	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.70986	-0.53;-0.53	5.81	5.81	0.92471	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.90870	3.155	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89921	0.4059	10	0.87932	D	0	.	18.7029	0.91627	0.0:1.0:0.0:0.0	.	66;66	A8MW49;P07148	.;FABPL_HUMAN	W	66	ENSP00000295834:G66W;ENSP00000377351:G66W	ENSP00000295834:G66W	G	-	1	0	FABP1	88206854	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	7.094000	0.76944	2.765000	0.95021	0.558000	0.71614	GGG		0.532	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		8	244	8	244	---	---	---	---	A	88425739	C	A	88425739	3	1	72	1	0	0	0	0	1	0	0	0	5355	623	22	1	199	1	FABP1	2	88425739	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	13706191	88425739	154773634	15	3391										
LONRF2	164832	broad.mit.edu	37	chr2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atttttccaggggcgttcagGtcaggtgcatcctccacgtc	11	12	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.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		Somatic				LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	p.D412E	NM_198461.3	NP_940863.3	WXS	Illumina GAIIx	Phase_I	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	9	94	---	---	---	---	C	100916210	G	C	100916210	3	2	72	1	0	0	0	0	1	0	0	0	8895	1252	44	4	1060	4	LONRF2	2	100916210	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	12490471	100916210	142283163	16	3392										
WDR33	55339	broad.mit.edu	37	chr2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gttggggccaggtccttgtcCggggttcagagggggaatgc	19	8	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.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		Somatic					p.G949R	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	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	3	19	---	---	---	---	T	128474753	C	T	128474753	3	4	72	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	17	3393										
DNAH7	56171	broad.mit.edu	37	chr2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgacacgggagaaatcacggAggttgaacaagtagtgagat	14	5	1	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.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		Somatic					p.L2180R	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	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	3	96	---	---	---	---	C	196737068	A	C	196737068	3	2	72	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	18	3394										
SPHKAP	80309	broad.mit.edu	37	chr2	228882928	228882928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgtacttttcttgggtgtttGggtggatactctcctcagcc	11	9	3	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.chr2:228882928G>T	ENST00000392056.3	-	7	2688	c.2642C>A	c.(2641-2643)cCa>cAa	p.P881Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	881						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P881Q(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)		TTGGGTGTTTGGGTGGATACT	0.522																																						ENST00000392056.3																			2	Substitution - Missense(2)	p.P881Q(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.(2641-2643)cCa>cAa		SPHK1 interactor, AKAP domain containing							464	445	451					2																	228882928		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882928G>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.2642C>A	2.37:g.228882928G>T	ENSP00000375909:p.Pro881Gln		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	p.P881Q	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	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	2688	-		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)	881					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2642C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310797	0.10733	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11385	2.78;2.78	5.85	3.03	0.35002	.	1.163830	0.05951	N	0.638798	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	1	B;P	0.48503	0.117;0.911	B;B	0.42282	0.013;0.382	T	0.29518	-1.0009	10	0.30078	T	0.28	.	6.0211	0.19630	0.2065:0.0:0.6603:0.1333	.	881;881	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Q	881	ENSP00000375909:P881Q;ENSP00000339886:P881Q	ENSP00000339886:P881Q	P	-	2	0	SPHKAP	228591172	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	0.507000	0.22675	0.459000	0.27016	0.655000	0.94253	CCA		0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		8	200	8	200	---	---	---	---	T	228882928	G	T	228882928	3	4	72	1	0	0	0	0	1	0	0	0	15047	1348	47	1	2484	1	SPHKAP	2	228882928	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	32145860	228882928	14316445	19	3395										
ANO7	50636	broad.mit.edu	37	chr2	242147077	242147077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgctctccagcgcctgtgccCtggcccaggtacgagaagag	13	14	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.chr2:242147077C>A	ENST00000274979.8	+	11	1334	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	411					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						CGCCTGTGCCCTGGCCCAGGT	0.617																																						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.(1231-1233)Ctg>Atg		anoctamin 7							82	79	80					2																	242147077		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242147077C>A	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.1231C>A	2.37:g.242147077C>A	ENSP00000274979:p.Leu411Met		Somatic				ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	p.L411M	NM_001001891.3	NP_001001891.2	WXS	Illumina GAIIx	Phase_I	Q6IWH7	ANO7_HUMAN			11	1334	+			411					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1231C>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.120809	0.01785	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.70869	-0.41;-0.52	2.49	0.251	0.15540	.	1.458300	0.04835	U	0.439461	T	0.48607	0.1509	N	0.17278	0.47	0.18873	N	0.999987	B	0.29232	0.238	B	0.24006	0.05	T	0.36114	-0.9761	10	0.33141	T	0.24	.	0.9839	0.01442	0.3429:0.335:0.1806:0.1414	.	411	Q6IWH7	ANO7_HUMAN	M	411;410	ENSP00000274979:L411M;ENSP00000385418:L410M	ENSP00000274979:L411M	L	+	1	2	ANO7	241795750	0.601000	0.26907	0.361000	0.25849	0.123000	0.20343	1.011000	0.29911	0.329000	0.23460	-0.671000	0.03813	CTG		0.617	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		5	110	5	110	---	---	---	---	A	242147077	C	A	242147077	3	1	72	1	0	0	0	0	1	0	0	0	702	680	24	1	1345	1	ANO7	2	242147077	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	13264149	242147077	1052296	20	3396										
SLC6A11	6538	broad.mit.edu	37	chr3	10976882	10976882	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aagacggaggggacactgccCgaggtgagaccgccccagga	16	12	0	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.chr3:10976882C>A	ENST00000254488.2	+	13	1809	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	581					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.P581P(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)	GGACACTGCCCGAGGTGAGAC	0.652																																						ENST00000254488.2																			1	Substitution - coding silent(1)	p.P581P(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1741-1743)ccC>ccA		solute carrier family 6 (neurotransmitter transporter), member 11							94	91	92					3																	10976882		2203	4300	6503	SO:0001819	synonymous_variant	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976882C>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.1743C>A	3.37:g.10976882C>A			Somatic					p.P581P	NM_014229.1	NP_055044.1	WXS	Illumina GAIIx	Phase_I	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1809	+			581					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1743C>A	CCDS2602.1																																																																																				0.652	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		5	121	5	121	---	---	---	---	A	10976882	C	A	10976882	2	1	72	1	0	0	0	0	0	0	0	1	14674	639	23	1		1	SLC6A11	3	10976882	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		10976882	187045548	21	3397										
MRPS25	64432	broad.mit.edu	37	chr3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs	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)aagfs		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		Somatic				MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000449354.2_Intron	p.K121fs	NM_022497.3	NP_071942.1	WXS	Illumina GAIIx	Phase_I	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	72	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	4117225	15094107	182928323	22	3398										
OXSR1	9943	broad.mit.edu	37	chr3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctgctggcctggtcgacggaAgggatttagtaataggtaac	14	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.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		Somatic					p.R477G	NM_005109.2	NP_005100.1	WXS	Illumina GAIIx	Phase_I	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	6	230	---	---	---	---	G	38292947	A	G	38292947	3	3	72	1	0	0	0	0	1	0	0	0	11336	63	3	2	1491	2	OXSR1	3	38292947	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	23198840	38292947	159729483	23	3399										
CYB561D2	11068	broad.mit.edu	37	chr3	50391102	50391102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtacctggctgtattatgccCtgtcctcaccagcttggtca	9	13	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.chr3:50391102C>A	ENST00000418577.1	+	3	1172	c.596C>A	c.(595-597)cCt>cAt	p.P199H	NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	199	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTATTATGCCCTGTCCTCACC	0.567																																						ENST00000418577.1																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(595-597)cCt>cAt		cytochrome b561 family, member D2							110	106	107					3																	50391102		2203	4300	6503	SO:0001583	missense	11068				electron transport chain|transport	integral to membrane	metal ion binding	g.chr3:50391102C>A	AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"Cytochrome b genes"	30253	protein-coding gene	gene with protein product	"putative tumor suppressor 101F6"	607068	"cytochrome b-561 domain containing 2"			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.596C>A	3.37:g.50391102C>A	ENSP00000391209:p.Pro199His		Somatic				CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H	p.P199H			WXS	Illumina GAIIx	Phase_I	O14569	C56D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1172	+			199			Cytochrome b561.		A8K552	Missense_Mutation	SNP	ENST00000418577.1	37	c.596C>A	CCDS2827.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012723	0.75161	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.58	5.58	0.84498	Cytochrome b561/ferric reductase transmembrane (1);	0.099128	0.64402	D	0.000001	T	0.78610	0.4310	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.80457	-0.1374	9	0.72032	D	0.01	.	19.1701	0.93574	0.0:1.0:0.0:0.0	.	199	O14569	C56D2_HUMAN	H	199	.	ENSP00000232508:P199H	P	+	2	0	CYB561D2	50366106	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.940000	0.63533	2.641000	0.89580	0.561000	0.74099	CCT		0.567	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345973.1	NM_007022		5	129	5	129	---	---	---	---	A	50391102	C	A	50391102	3	1	72	1	0	0	0	0	1	0	0	0	4121	681	24	1	606	1	CYB561D2	3	50391102	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	12098155	50391102	147631328	24	3400										
SIDT1	54847	broad.mit.edu	37	chr3	113338551	113338551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gaatggtgttgctggttgtgGggaatctggttaactggtcc	16	5	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.chr3:113338551G>T	ENST00000264852.4	+	21	2794	c.2068G>T	c.(2068-2070)Ggg>Tgg	p.G690W	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	690					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						GCTGGTTGTGGGGAATCTGGT	0.383																																						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.(2068-2070)Ggg>Tgg		SID1 transmembrane family, member 1							429	399	409					3																	113338551		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113338551G>T	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.2068G>T	3.37:g.113338551G>T	ENSP00000264852:p.Gly690Trp		Somatic				SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W|SIDT1_ENST00000463226.1_3'UTR	p.G690W	NM_017699.2	NP_060169.2	WXS	Illumina GAIIx	Phase_I	Q9NXL6	SIDT1_HUMAN			21	2794	+			690					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2068G>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970501	0.92919	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.17213	2.29;2.32	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	T	0.49064	0.1535	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.40496	-0.9560	10	0.54805	T	0.06	-14.1183	20.4745	0.99168	0.0:0.0:1.0:0.0	.	695;690	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	690;695	ENSP00000264852:G690W;ENSP00000377416:G695W	ENSP00000264852:G690W	G	+	1	0	SIDT1	114821241	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GGG		0.383	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		8	323	8	323	---	---	---	---	T	113338551	G	T	113338551	3	4	72	1	0	0	0	0	1	0	0	0	14302	1232	43	1	2150	1	SIDT1	3	113338551	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	62947449	113338551	84683879	25	3401										
MYLK	4638	broad.mit.edu	37	chr3	123333147	123333147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atctggaagtggcgggactcCctgattgactggtcatcttt	12	9	3	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.chr3:123333147C>A	ENST00000475616.1	-	31	5549	c.5550G>T	c.(5548-5550)agG>agT	p.R1850S	MYLK_ENST00000360772.3_Missense_Mutation_p.R1799S|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S			Q15746	MYLK_HUMAN	myosin light chain kinase	1850	Ig-like C2-type 9.				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)		GGCGGGACTCCCTGATTGACT	0.483																																						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.(5395-5397)agG>agT		myosin light chain kinase							105	105	105					3																	123333147		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.chr3:123333147C>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.5550G>T	3.37:g.123333147C>A	ENSP00000418335:p.Arg1850Ser		Somatic				MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK_ENST00000475616.1_Missense_Mutation_p.R1850S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S	p.R1799S			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5775	-		Lung NSC(201;0.0496)	1850					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.5397G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158363	0.38119	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000418370;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.27	3.46	0.39613	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58409	0.2120	N	0.04805	-0.155	0.41481	D	0.988165	P;P;P;P;P;B	0.50369	0.837;0.934;0.837;0.876;0.866;0.05	P;P;P;P;P;B	0.59115	0.562;0.852;0.562;0.755;0.689;0.006	T	0.62224	-0.6899	9	0.46703	T	0.11	.	10.295	0.43618	0.0:0.846:0.0:0.154	.	1849;1730;1799;1781;1850;162	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746;Q05D81	.;.;.;.;MYLK_HUMAN;.	S	1799;1850;1799;90;1781;650;1850	ENSP00000354004:R1799S;ENSP00000353452:R1850S;ENSP00000352088:R1799S;ENSP00000428967:R90S;ENSP00000320622:R1781S;ENSP00000346846:R650S;ENSP00000418335:R1850S	ENSP00000320622:R1781S	R	-	3	2	MYLK	124815837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.045000	0.30341	1.452000	0.47756	0.650000	0.86243	AGG		0.483	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	81	6	81	---	---	---	---	A	123333147	C	A	123333147	3	1	72	1	0	0	0	0	1	0	0	0	10056	622	22	1	198	1	MYLK	3	123333147	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	9994596	123333147	74689283	26	3402										
SLC12A8	84561	broad.mit.edu	37	chr3	124896676	124896676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcagctggaggcggattatcCatttgacacctgcgaggtta	13	9	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.chr3:124896676C>A	ENST00000393469.4	-	4	582	c.533G>T	c.(532-534)tGg>tTg	p.W178L	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.W207L|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	178					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GCGGATTATCCATTTGACACC	0.557																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(619-621)tGg>tTg		solute carrier family 12, member 8							73	84	80					3																	124896676		2078	4220	6298	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124896676C>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.533G>T	3.37:g.124896676C>A	ENSP00000377112:p.Trp178Leu		Somatic				SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W178L	p.W207L			WXS	Illumina GAIIx	Phase_I	A0AV02	S12A8_HUMAN			5	619	-			178					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.620G>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.788187	0.90367	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902	D;D;D	0.98602	-5.02;-5.02;-5.02	5.5	5.5	0.81552	Amino acid permease domain (1);	.	.	.	.	D	0.98532	0.9510	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99818	1.1045	9	0.62326	D	0.03	.	17.5864	0.87982	0.0:1.0:0.0:0.0	.	70;207;178	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	L	178;207;178	ENSP00000377112:W178L;ENSP00000404243:W207L;ENSP00000418783:W178L	ENSP00000377112:W178L	W	-	2	0	SLC12A8	126379366	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.467000	0.80930	2.599000	0.87857	0.448000	0.29417	TGG		0.557	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		4	48	4	48	---	---	---	---	A	124896676	C	A	124896676	3	1	72	1	0	0	0	0	1	0	0	0	14389	595	21	1	1651	1	SLC12A8	3	124896676	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1563529	124896676	73125754	27	3403										
TF	7018	broad.mit.edu	37	chr3	133489392	133489392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atgtggcctttgtgaaacacCagactgtcccacagaacact	8	12	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.chr3:133489392C>A	ENST00000402696.3	+	14	2148	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	TF_ENST00000264998.3_Missense_Mutation_p.Q428K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	555	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				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)	TGTGAAACACCAGACTGTCCC	0.507																																						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.(1663-1665)Cag>Aag		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						190	174	179					3																	133489392		2203	4300	6503	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.chr3:133489392C>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.1663C>A	3.37:g.133489392C>A	ENSP00000385834:p.Gln555Lys		Somatic				TF_ENST00000264998.3_Missense_Mutation_p.Q428K	p.Q555K	NM_001063.3	NP_001054	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			14	2148	+			555			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1663C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446910	0.25987	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.31510	1.49;1.49	4.77	-0.909	0.10514	.	0.836779	0.10529	N	0.664120	T	0.31575	0.0801	M	0.73598	2.24	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40117	-0.9580	10	0.72032	D	0.01	-1.1922	8.1138	0.30930	0.419:0.2367:0.3442:0.0	.	555	P02787	TRFE_HUMAN	K	555;428	ENSP00000385834:Q555K;ENSP00000264998:Q428K	ENSP00000264998:Q428K	Q	+	1	0	TF	134972082	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.270000	0.18607	0.006000	0.14734	-0.300000	0.09419	CAG		0.507	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		6	192	6	192	---	---	---	---	A	133489392	C	A	133489392	3	1	72	1	0	0	0	0	1	0	0	0	15782	595	21	1	1717	1	TF	3	133489392	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8592716	133489392	64533038	28	3404										
CP	1356	broad.mit.edu	37	chr3	148896263	148896263	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tttactttctcggggtgatcAgagtatgttttgatgttgtc	11	5	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.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			Somatic					p.S939S	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	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	6	94	---	---	---	---	G	148896263	A	G	148896263	2	3	72	1	0	0	0	0	0	0	0	1	3787	175	7	2		2	CP	3	148896263	Silent	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	15406871	148896263	49126167	29	3405										
ST6GAL1	6480	broad.mit.edu	37	chr3	186790707	186790707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aatcctaattgtatgggaccCatctgtataccactcagata	6	10	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.chr3:186790707C>A	ENST00000169298.3	+	6	1450	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	259					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)		GTATGGGACCCATCTGTATAC	0.443																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(775-777)cCa>cAa		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							121	119	119					3																	186790707		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.chr3:186790707C>A	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.776C>A	3.37:g.186790707C>A	ENSP00000169298:p.Pro259Gln		Somatic				ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q	p.P259Q	NM_173216.2	NP_775323.1	WXS	Illumina GAIIx	Phase_I	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	6	1450	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		259					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.776C>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739035	0.69304	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000427315;ENST00000448044;ENST00000442023	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.84219	2.685	0.58432	D	0.999993	D	0.61697	0.99	D	0.66084	0.941	T	0.59568	-0.7430	10	0.66056	D	0.02	-21.4503	13.0094	0.58724	0.0:1.0:0.0:0.0	.	259	P15907	SIAT1_HUMAN	Q	259;28;28;259;28	ENSP00000169298:P259Q;ENSP00000412221:P28Q;ENSP00000389337:P259Q;ENSP00000403063:P28Q	ENSP00000169298:P259Q	P	+	2	0	ST6GAL1	188273401	1.000000	0.71417	0.983000	0.44433	0.942000	0.58702	5.602000	0.67612	2.797000	0.96272	0.561000	0.74099	CCA		0.443	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	116	5	116	---	---	---	---	A	186790707	C	A	186790707	3	1	72	1	0	0	0	0	1	0	0	0	15220	594	21	1	786	1	ST6GAL1	3	186790707	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	37894444	186790707	11231723	30	3406										
TNK2	10188	broad.mit.edu	37	chr3	195594757	195594757	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	accagggggctgggtgtcctCgagccttgaggggacagggg	20	9	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.chr3:195594757C>A	ENST00000333602.6	-	12	2984	c.2367G>T	c.(2365-2367)tcG>tcT	p.S789S	TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	789	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)	TGGGTGTCCTCGAGCCTTGAG	0.706																																						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.(2365-2367)tcG>tcT		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						8	12	11					3																	195594757		2139	4186	6325	SO:0001819	synonymous_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.chr3:195594757C>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.2367G>T	3.37:g.195594757C>A			Somatic				TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	p.S789S	NM_005781.4	NP_005772.3	WXS	Illumina GAIIx	Phase_I	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	2984	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	789	Missing (in Ref. 4; AAH08884).		EBD domain (By similarity).|Pro-rich.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.2367G>T	CCDS33928.1																																																																																				0.706	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	46	4	46	---	---	---	---	A	195594757	C	A	195594757	2	1	72	1	0	0	0	0	0	0	0	1	16315	871	31	3		3	TNK2	3	195594757	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8804050	195594757	2427673	31	3407										
TADA2B	93624	broad.mit.edu	37	chr4	7056217	7056217	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aatctggtgccagccttcctGgggaaggacaagaaggagaa	14	8	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.chr4:7056217G>T	ENST00000310074.7	+	2	888	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TADA2B_ENST00000515646.1_Silent_p.L141L|TADA2B_ENST00000512388.1_Silent_p.L158L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	233					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						CAGCCTTCCTGGGGAAGGACA	0.577																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(697-699)ctG>ctT		transcriptional adaptor 2B							68	75	72					4																	7056217		2040	4202	6242	SO:0001819	synonymous_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056217G>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.699G>T	4.37:g.7056217G>T			Somatic				TADA2B_ENST00000512388.1_Silent_p.L158L|TADA2B_ENST00000515646.1_Silent_p.L141L	p.L233L	NM_152293.2	NP_689506.2	WXS	Illumina GAIIx	Phase_I	Q86TJ2	TAD2B_HUMAN			2	888	+			233					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	ENST00000310074.7	37	c.699G>T	CCDS47007.1																																																																																				0.577	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		5	99	5	99	---	---	---	---	T	7056217	G	T	7056217	2	4	72	1	0	0	0	0	0	0	0	1	15508	1335	47	1		1	TADA2B	4	7056217	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		7056217	184098059	32	3408										
SORCS2	57537	broad.mit.edu	37	chr4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cctggcaaaccaaaaaattgAtgggaaagtgatgacgctta	10	7	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.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		Somatic				SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	p.D462V	NM_020777.2	NP_065828.2	WXS	Illumina GAIIx	Phase_I	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	7	25	---	---	---	---	T	7684513	A	T	7684513	3	4	72	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	628296	7684513	183469763	33	3409										
SH3TC1	54436	broad.mit.edu	37	chr4	8221138	8221138	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	accttccgaggtggcgacctCatcgagatccttggggcgca	13	13	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.chr4:8221138C>A	ENST00000245105.3	+	9	1060	c.993C>A	c.(991-993)ctC>ctA	p.L331L	SH3TC1_ENST00000539824.1_Silent_p.L255L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	331	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						GTGGCGACCTCATCGAGATCC	0.672																																					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.(763-765)ctC>ctA		SH3 domain and tetratricopeptide repeats 1							50	55	53					4																	8221138		2202	4300	6502	SO:0001819	synonymous_variant	54436						binding	g.chr4:8221138C>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.993C>A	4.37:g.8221138C>A			Somatic				SH3TC1_ENST00000245105.3_Silent_p.L331L	p.L255L			WXS	Illumina GAIIx	Phase_I	Q8TE82	S3TC1_HUMAN			9	1139	+			331					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.765C>A	CCDS3399.1																																																																																				0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	76	5	76	---	---	---	---	A	8221138	C	A	8221138	2	1	72	1	0	0	0	0	0	0	0	1	14261	813	29	3		3	SH3TC1	4	8221138	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	536625	8221138	182933138	34	3410										
N4BP2	55728	broad.mit.edu	37	chr4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cgttttgtttcagtgccaatAattatgagttcttcggttcc	8	8	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.chr4:40119567A>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		Somatic					p.I581M	NM_018177.4	NP_060647.2	WXS	Illumina GAIIx	Phase_I	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	17	51	---	---	---	---	G	40119567	A	G	40119567	3	3	72	1	0	0	0	0	1	0	0	0	10110	352	13	2	1765	2	N4BP2	4	40119567	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	31898429	40119567	151034709	35	3411										
ATP10D	57205	broad.mit.edu	37	chr4	47538468	47538468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgaaaggtcatggaatctggCtgagcaggtatgaaaagatg	14	4	2	4	rs139274170	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.chr4:47538468C>A	ENST00000273859.3	+	8	1299	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	344					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						TGGAATCTGGCTGAGCAGGTA	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.(1030-1032)Ctg>Atg		ATPase, class V, type 10D							216	217	217					4																	47538468		2203	4300	6503	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.chr4:47538468C>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.1030C>A	4.37:g.47538468C>A	ENSP00000273859:p.Leu344Met		Somatic				ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	p.L344M	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	Q9P241	AT10D_HUMAN			8	1299	+			344					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1030C>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.000585	0.35320	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;D	0.89415	0.44;-2.51	5.46	-2.5	0.06384	ATPase, P-type, ATPase-associated domain (1);	0.403281	0.23226	N	0.050513	D	0.83982	0.5372	L	0.43701	1.375	0.34367	D	0.691619	B;B	0.34290	0.447;0.389	B;B	0.42959	0.403;0.403	T	0.78458	-0.2196	10	0.44086	T	0.13	-12.872	7.3857	0.26880	0.1133:0.4264:0.0:0.4603	.	344;344	Q9P241;Q6PEW3	AT10D_HUMAN;.	M	344	ENSP00000273859:L344M;ENSP00000420909:L344M	ENSP00000273859:L344M	L	+	1	2	ATP10D	47233225	0.002000	0.14202	0.990000	0.47175	0.768000	0.43524	-1.457000	0.02374	-0.430000	0.07318	-0.285000	0.09966	CTG		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		7	198	7	198	---	---	---	---	A	47538468	C	A	47538468	3	1	72	1	0	0	0	0	1	0	0	0	1118	796	28	3	1056	3	ATP10D	4	47538468	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7418901	47538468	143615808	36	3412										
KDR	3791	broad.mit.edu	37	chr4	55961098	55961098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgctccaacgtagtctttccCttgacggaatcgtgcccctt	8	14	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.chr4:55961098C>A	ENST00000263923.4	-	21	3137	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W	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)	948	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)			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)	TAGTCTTTCCCTTGACGGAAT	0.438			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.(2842-2844)Ggg>Tgg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						93	85	88					4																	55961098		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.chr4:55961098C>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.2842G>T	4.37:g.55961098C>A	ENSP00000263923:p.Gly948Trp	TSP Lung(20;0.16)	Somatic					p.G948W	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3137	-	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)		948			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2842G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676051	0.47886	.	.	ENSG00000128052	ENST00000263923	T	0.77358	-1.09	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.301012	0.36034	N	0.002840	D	0.82268	0.5000	L	0.39898	1.24	0.43457	D	0.995659	D	0.71674	0.998	D	0.68353	0.957	T	0.82155	-0.0597	10	0.52906	T	0.07	.	13.412	0.60948	0.0:0.9284:0.0:0.0716	.	948	P35968	VGFR2_HUMAN	W	948	ENSP00000263923:G948W	ENSP00000263923:G948W	G	-	1	0	KDR	55655855	0.077000	0.21312	0.991000	0.47740	0.302000	0.27658	2.326000	0.43849	2.780000	0.95670	0.655000	0.94253	GGG		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			6	86	6	86	---	---	---	---	A	55961098	C	A	55961098	3	1	72	1	0	0	0	0	1	0	0	0	8139	681	24	1	1268	1	KDR	4	55961098	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8422630	55961098	135193178	37	3413										
PKD2	5311	broad.mit.edu	37	chr4	88957413	88957413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccaatgtgtactactacaccCggatgatgtcacagctcttc	7	13	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.chr4:88957413C>A	ENST00000237596.2	+	3	817	c.751C>A	c.(751-753)Cgg>Agg	p.R251R		NM_000297.3	NP_000288.1	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)	p.R251R(1)		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)		CTACTACACCCGGATGATGTC	0.478																																						ENST00000237596.2																			1	Substitution - coding silent(1)	p.R251R(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(751-753)Cgg>Agg		polycystic kidney disease 2 (autosomal dominant)							166	156	159					4																	88957413		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:88957413C>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	ENST00000237596.2:c.751C>A	4.37:g.88957413C>A			Somatic					p.R251R	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	3	817	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	251					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	c.751C>A	CCDS3627.1																																																																																				0.478	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		5	132	5	132	---	---	---	---	A	88957413	C	A	88957413	2	1	72	1	0	0	0	0	0	0	0	1	11966	643	23	1		1	PKD2	4	88957413	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	32996315	88957413	102196863	38	3414										
GRIA2	2891	broad.mit.edu	37	chr4	158254059	158254059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aagaattgaaatctcccgaaGggggaatgcaggagactgtc	13	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.chr4:158254059G>T	ENST00000264426.9	+	7	1250	c.971G>T	c.(970-972)aGg>aTg	p.R324M	GRIA2_ENST00000296526.7_Missense_Mutation_p.R324M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M|GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					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)	ATCTCCCGAAGGGGGAATGCA	0.483																																						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.(970-972)aGg>aTg		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						68	75	73					4																	158254059		2203	4299	6502	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.chr4:158254059G>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.971G>T	4.37:g.158254059G>T	ENSP00000264426:p.Arg324Met		Somatic				GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M	p.R324M	NM_000826.3	NP_000817	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1296	+	all_hematologic(180;0.24)	Renal(120;0.0458)	324					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.971G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417982	0.62622	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	M	0.76574	2.34	0.80722	D	1	P;D;P	0.58268	0.759;0.982;0.686	B;P;B	0.46237	0.308;0.508;0.375	D	0.88294	0.2945	10	0.66056	D	0.02	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	324;324;277	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	M	277;277;324;324;277	ENSP00000426845:R277M;ENSP00000377403:R277M;ENSP00000296526:R324M;ENSP00000264426:R324M;ENSP00000389837:R277M	ENSP00000264426:R324M	R	+	2	0	GRIA2	158473509	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	6.820000	0.75267	2.341000	0.79615	0.557000	0.71058	AGG		0.483	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			5	77	5	77	---	---	---	---	T	158254059	G	T	158254059	3	4	72	1	0	0	0	0	1	0	0	0	6768	1000	35	1	997	1	GRIA2	4	158254059	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	69296646	158254059	32900217	39	3415										
DDX60L	91351	broad.mit.edu	37	chr4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	accaaaaagggacatcgaatAatgacaaggaggagctccca	10	9	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.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		Somatic				DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M|DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M	p.I889M			WXS	Illumina GAIIx	Phase_I	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	15	84	---	---	---	---	C	169337892	A	C	169337892	3	2	72	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	11083833	169337892	21816384	40	3416										
ADAMTS16	170690	broad.mit.edu	37	chr5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atgtgtccctccatagacatGccccagcctcccaaggaaga	8	15	0	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.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		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	p.M256I	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	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	37	190	---	---	---	---	A	5186169	G	A	5186169	3	1	72	1	0	0	0	0	1	0	0	0	261	1319	46	2	786	2	ADAMTS16	5	5186169	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		5186169	175729091	41	3417										
CDH9	1007	broad.mit.edu	37	chr5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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)gaafs		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		Somatic					p.E526fs	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	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	72	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	42	3418										
LIFR	3977	broad.mit.edu	37	chr5	38523567	38523567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tacgtagaactttaatttccCagataacatttgagcggtgt	8	7	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.chr5:38523567C>A	ENST00000263409.4	-	5	677	c.515G>T	c.(514-516)tGg>tTg	p.W172L	LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	172					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)					TTTAATTTCCCAGATAACATT	0.348			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.(514-516)tGg>tTg		leukemia inhibitory factor receptor alpha							89	97	94					5																	38523567		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.chr5:38523567C>A	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.515G>T	5.37:g.38523567C>A	ENSP00000263409:p.Trp172Leu		Somatic				LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	p.W172L	NM_002310.5	NP_002301.1	WXS	Illumina GAIIx	Phase_I	P42702	LIFR_HUMAN			5	677	-	all_lung(31;0.00021)		172					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.515G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215547	0.79352	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.28069	1.63;1.63	5.53	5.53	0.82687	Immunoglobulin-like fold (1);	0.412872	0.30658	N	0.009144	T	0.53061	0.1773	M	0.69823	2.125	0.46631	D	0.999137	D	0.76494	0.999	D	0.65443	0.935	T	0.53194	-0.8473	10	0.54805	T	0.06	-8.4622	14.9587	0.71138	0.0:1.0:0.0:0.0	.	172	P42702	LIFR_HUMAN	L	172	ENSP00000263409:W172L;ENSP00000398368:W172L	ENSP00000263409:W172L	W	-	2	0	LIFR	38559324	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.097000	0.57741	2.579000	0.87056	0.655000	0.94253	TGG		0.348	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		5	102	5	102	---	---	---	---	A	38523567	C	A	38523567	3	1	72	1	0	0	0	0	1	0	0	0	8780	595	21	1	2842	1	LIFR	5	38523567	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	11637440	38523567	142391693	43	3419										
SNX18	112574	broad.mit.edu	37	chr5	53814500	53814500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccaccttcgtcaagtccggcGgggaggccttcgtgctgggg	16	13	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.chr5:53814500G>T	ENST00000326277.3	+	1	908	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	SNX18_ENST00000381410.4_Missense_Mutation_p.G240W|SNX18_ENST00000343017.6_Missense_Mutation_p.G240W	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	240					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)			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)				CAAGTCCGGCGGGGAGGCCTT	0.701																																						ENST00000343017.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(718-720)Ggg>Tgg		sorting nexin 18							47	56	53					5																	53814500		2203	4300	6503	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.chr5:53814500G>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.718G>T	5.37:g.53814500G>T	ENSP00000317332:p.Gly240Trp		Somatic				SNX18_ENST00000326277.3_Missense_Mutation_p.G240W|SNX18_ENST00000381410.4_Missense_Mutation_p.G240W	p.G240W	NM_001145427.1	NP_001138899.1	WXS	Illumina GAIIx	Phase_I	Q96RF0	SNX18_HUMAN			1	912	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	240					B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000326277.3	37	c.718G>T	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074353	0.76415	.	.	ENSG00000178996	ENST00000343017;ENST00000381410;ENST00000326277	T;T;T	0.15139	2.64;2.45;2.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.09058	-1.0692	10	0.66056	D	0.02	-26.2132	17.4283	0.87532	0.0:0.0:1.0:0.0	.	240;240	Q96RF0;Q96RF0-2	SNX18_HUMAN;.	W	240	ENSP00000342276:G240W;ENSP00000370817:G240W;ENSP00000317332:G240W	ENSP00000317332:G240W	G	+	1	0	SNX18	53850257	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.617000	0.98361	2.428000	0.82296	0.557000	0.71058	GGG		0.701	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			5	112	5	112	---	---	---	---	T	53814500	G	T	53814500	3	4	72	1	0	0	0	0	1	0	0	0	14889	1116	39	1	720	1	SNX18	5	53814500	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	15290933	53814500	127100760	44	3420										
CMYA5	202333	broad.mit.edu	37	chr5	79034560	79034560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcgatgcagaagaaagctccCatcacagaggacgtcagagt	12	10	2	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.chr5:79034560C>A	ENST00000446378.2	+	2	10003	c.9972C>A	c.(9970-9972)ccC>ccA	p.P3324P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3324					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)		AGAAAGCTCCCATCACAGAGG	0.493																																						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.(9970-9972)ccC>ccA		cardiomyopathy associated 5							87	89	88					5																	79034560		2073	4208	6281	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79034560C>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.9972C>A	5.37:g.79034560C>A			Somatic					p.P3324P	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10003	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3324					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.9972C>A	CCDS47238.1																																																																																				0.493	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	85	5	85	---	---	---	---	A	79034560	C	A	79034560	2	1	72	1	0	0	0	0	0	0	0	1	3590	581	21	1		1	CMYA5	5	79034560	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	25220060	79034560	101880700	45	3421										
PCDHA5	56143	broad.mit.edu	37	chr5	140201750	140201750	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gacatcaatgacaatccgccCaggttctccagacaagaaca	7	13	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.chr5:140201750C>A	ENST00000529859.1	+	1	390	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	130	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)			ACAATCCGCCCAGGTTCTCCA	0.527																																						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.(388-390)ccC>ccA									68	74	72					5																	140201750		2203	4300	6503	SO:0001819	synonymous_variant	56143							g.chr5:140201750C>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.390C>A	5.37:g.140201750C>A			Somatic				PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.P130P	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	390	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.390C>A	CCDS54917.1																																																																																				0.527	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	104	5	104	---	---	---	---	A	140201750	C	A	140201750	2	1	72	1	0	0	0	0	0	0	0	1	11527	581	21	1		1	PCDHA5	5	140201750	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	61167190	140201750	40713510	46	3422										
PCDHGA10	56106	broad.mit.edu	37	chr5	140795088	140795088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagcccaattatgcggacacGctcatcagccaggagagctg	11	13	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	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_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	56106							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			Somatic				PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.T782T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina GAIIx	Phase_I			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	18	122	---	---	---	---	A	140795088	G	A	140795088	2	1	72	1	0	0	0	0	0	0	0	1	11551	1074	38	2		2	PCDHGA10	5	140795088	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	593338	140795088	40120172	47	3423										
FBXW11	23291	broad.mit.edu	37	chr5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agtcattcaccttaatagaaTtatctcgtaggccactgata	6	9	3	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.chr5:171318481T>C	ENST00000265094.5	-	6	916	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.N247S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	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		Somatic				FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	p.N247S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	C	171318481	T	C	171318481	3	2	72	1	0	0	0	0	1	0	0	0	5764	1493	52	2	877	2	FBXW11	5	171318481	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	30523393	171318481	9596779	48	3424										
ADAMTS2	9509	broad.mit.edu	37	chr5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	caggtacttctgtacgtgctCcttcccgtggaactgcacca	9	14	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.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		Somatic				ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	p.E285K	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	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	9	128	---	---	---	---	T	178634552	C	T	178634552	3	4	72	1	0	0	0	0	1	0	0	0	265	864	30	2	2933	2	ADAMTS2	5	178634552	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7316071	178634552	2280708	49	3425										
FAM50B	26240	broad.mit.edu	37	chr6	3850540	3850540	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gaggaggaggagaaccggctCcgagaggagctgcgccaaga	18	9	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.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			Somatic				FAM50B_ENST00000380272.3_Silent_p.L165L	p.L165L			WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	G	3850540	C	G	3850540	2	3	72	1	0	0	0	0	0	0	0	1	5578	842	30	4		4	FAM50B	6	3850540	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		3850540	167264527	50	3426										
E2F3	1871	broad.mit.edu	37	chr6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gacactctttacgttagcttAtgttacatatcaagatattc	5	8	2	1	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		Somatic				E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	p.Y298C	NM_001949.4	NP_001940.1	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	G	20486928	A	G	20486928	3	3	72	1	0	0	0	0	1	0	0	0	4868	449	16	2	911	2	E2F3	6	20486928	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	16636388	20486928	150628139	51	3427										
BTN3A2	11118	broad.mit.edu	37	chr6	26368874	26368874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tctgccctgtcacctgttccCgaccatgagtgcagagacca	9	15	2	2	rs376536724		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.chr6:26368874C>A	ENST00000356386.2	+	4	355	c.167C>A	c.(166-168)cCg>cAg	p.P56Q	BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	56	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CACCTGTTCCCGACCATGAGT	0.562																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(166-168)cCg>cAg		butyrophilin, subfamily 3, member A2							198	151	167					6																	26368874		2202	4297	6499	SO:0001583	missense	11118					integral to membrane		g.chr6:26368874C>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.167C>A	6.37:g.26368874C>A	ENSP00000348751:p.Pro56Gln		Somatic				BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q	p.P56Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	WXS	Illumina GAIIx	Phase_I	P78410	BT3A2_HUMAN			4	355	+			56			Ig-like V-type.		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.167C>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	14.27	2.485204	0.44147	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18;4.18;4.18	3.17	1.25	0.21368	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06050	0.0157	M	0.83223	2.63	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.16041	-1.0416	9	0.87932	D	0	.	6.2604	0.20897	0.0:0.7307:0.0:0.2693	.	33;56	F8W6E0;P78410	.;BT3A2_HUMAN	Q	14;14;56;56;56;56;33;56;56;14	ENSP00000435952:P14Q;ENSP00000434102:P14Q;ENSP00000433749:P56Q;ENSP00000432138:P56Q;ENSP00000348751:P56Q;ENSP00000380140:P33Q;ENSP00000366937:P56Q;ENSP00000380152:P56Q;ENSP00000442687:P14Q	ENSP00000348751:P56Q	P	+	2	0	BTN3A2	26476853	0.128000	0.22383	0.000000	0.03702	0.176000	0.22953	2.410000	0.44592	0.124000	0.18369	0.405000	0.27470	CCG		0.562	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			6	202	6	202	---	---	---	---	A	26368874	C	A	26368874	3	1	72	1	0	0	0	0	1	0	0	0	1563	652	23	1	173	1	BTN3A2	6	26368874	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	5881946	26368874	144746193	52	3428										
TNXB	7148	broad.mit.edu	37	chr6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gactgtccaggagaggcccaCggagttctgggtcacggtgg	17	10	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.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		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M	p.V1792M			WXS	Illumina GAIIx	Phase_I	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	8	22	---	---	---	---	T	32037543	C	T	32037543	3	4	72	1	0	0	0	0	1	0	0	0	16343	536	19	2	9459	2	TNXB	6	32037543	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	5668669	32037543	139077524	53	3429										
ABCC10	89845	broad.mit.edu	37	chr6	43415021	43415021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cgctgtcttatgccctgtccCtgacgggcctgctctcgggc	12	16	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.chr6:43415021C>A	ENST00000372530.4	+	17	3795	c.3580C>A	c.(3580-3582)Ctg>Atg	p.L1194M	ABCC10_ENST00000244533.3_Missense_Mutation_p.L1166M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1194	ABC transmembrane type-1 2. {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)	TGCCCTGTCCCTGACGGGCCT	0.637																																						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.(3496-3498)Ctg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							96	89	92					6																	43415021		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415021C>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.3580C>A	6.37:g.43415021C>A	ENSP00000361608:p.Leu1194Met		Somatic				ABCC10_ENST00000372530.4_Missense_Mutation_p.L1194M	p.L1166M	NM_033450.2	NP_258261.2	WXS	Illumina GAIIx	Phase_I	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)		15	3855	+	all_lung(25;0.00536)		1194			ABC transmembrane type-1 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3496C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226551	0.58668	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91237	-2.81;-2.81	5.34	0.473	0.16763	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.540563	0.17388	N	0.176049	D	0.85665	0.5749	L	0.45470	1.425	0.38014	D	0.934625	P;D	0.71674	0.936;0.998	P;D	0.71414	0.511;0.973	T	0.80259	-0.1457	10	0.27082	T	0.32	-6.8493	2.3151	0.04197	0.1031:0.3953:0.1384:0.3632	.	1166;1194	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1194;1166	ENSP00000361608:L1194M;ENSP00000244533:L1166M	ENSP00000244533:L1166M	L	+	1	2	ABCC10	43522999	0.422000	0.25473	0.992000	0.48379	0.918000	0.54935	0.561000	0.23515	0.013000	0.14918	-0.218000	0.12543	CTG		0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		7	135	7	135	---	---	---	---	A	43415021	C	A	43415021	3	1	72	1	0	0	0	0	1	0	0	0	50	680	24	1	3554	1	ABCC10	6	43415021	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	11377478	43415021	127700046	54	3430										
PLEKHG1	57480	broad.mit.edu	37	chr6	151153132	151153132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcaaacagacccagaaaaccCtgacctggggatggaggcca	11	12	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.chr6:151153132C>A	ENST00000358517.2	+	15	3096	c.2885C>A	c.(2884-2886)cCt>cAt	p.P962H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P962H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	962							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)		CCAGAAAACCCTGACCTGGGG	0.488																																						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.(2884-2886)cCt>cAt		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							125	138	134					6																	151153132		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153132C>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.2885C>A	6.37:g.151153132C>A	ENSP00000351318:p.Pro962His		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P962H	p.P962H	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3197	+			962					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2885C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009454	0.54361	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.21543	2.0;2.0	5.4	5.4	0.78164	.	0.645911	0.17117	N	0.186395	T	0.13329	0.0323	L	0.57536	1.79	0.09310	N	1	P;P;P	0.38642	0.641;0.641;0.641	B;B;B	0.40702	0.338;0.338;0.338	T	0.07597	-1.0764	10	0.62326	D	0.03	.	10.3436	0.43893	0.0:0.8802:0.0:0.1198	.	769;962;962	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	H	962	ENSP00000356297:P962H;ENSP00000351318:P962H	ENSP00000351318:P962H	P	+	2	0	PLEKHG1	151194825	0.050000	0.20438	0.628000	0.29241	0.967000	0.64934	1.217000	0.32455	2.548000	0.85928	0.655000	0.94253	CCT		0.488	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	218	8	218	---	---	---	---	A	151153132	C	A	151153132	3	1	72	1	0	0	0	0	1	0	0	0	12068	681	24	1	2939	1	PLEKHG1	6	151153132	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	107738111	151153132	19961935	55	3431										
FAM120B	84498	broad.mit.edu	37	chr6	170639605	170639606	+	Missense_Mutation	DNP	GA	GA	TT													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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.chr6:170639605_170639606GA>TT	ENST00000476287.1	+	4	2092_2093	c.1984_1985GA>TT	c.(1984-1986)GAc>TTc	p.D662F	MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685F|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674F|FAM120B_ENST00000252510.9_5'UTR	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)		GAGGCACCCGGACCTCGTCAGG	0.48																																						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|c.(1984-1986)gAc>gTc		family with sequence similarity 120B																																				SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639605G>T|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	Exception_encountered	6.37:g.170639605_170639606delinsTT	ENSP00000417970:p.Asp662Phe		Somatic				FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	p.D662Y|p.D662V	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	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|2093	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1984G>T|c.1985A>T	CCDS5314.1																																																																																				0.48	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	9	83	---	---	---	---	TT	170639606	GA	TT	170639605	3	4	72	1	0	0	0	0	1	0	0	0	5417	1174	41	3	1994	3	FAM120B	6	170639605	Missense_Mutation	DNP	GA	TCGA-EJ-7123-01A-11D-1961-08	19486473	170639605	475462	56	3432										
GPER	2852	broad.mit.edu	37	chr7	1131448	1131448	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcggcccccaacaccacctcCcccgagctcaacctgtccca	6	23	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.chr7:1131448C>A	ENST00000297469.3	+	2	775	c.84C>A	c.(82-84)tcC>tcA	p.S28S	GPER1_ENST00000401670.1_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397092.1_Silent_p.S28S	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	28					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)										ACACCACCTCCCCCGAGCTCA	0.672																																						ENST00000397092.1																			0											c.(82-84)tcC>tcA		G protein-coupled estrogen receptor 1							47	47	47					7																	1131448		2201	4299	6500	SO:0001819	synonymous_variant	2852							g.chr7:1131448C>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.84C>A	7.37:g.1131448C>A			Somatic				C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S28S|GPER1_ENST00000297469.3_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron	p.S28S	NM_001039966.1	NP_001035055.1	WXS	Illumina GAIIx	Phase_I					3	968	+			28					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.84C>A	CCDS5322.1																																																																																				0.672	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		5	71	5	71	---	---	---	---	A	1131448	C	A	1131448	2	1	72	1	0	0	0	0	0	0	0	1	6607	610	22	1		1	GPER	7	1131448	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		1131448	158007215	57	3433										
FOXK1	221937	broad.mit.edu	37	chr7	4796699	4796699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcccaggaggagcctgggaaGgggtccttttggcgaataga	16	8	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.chr7:4796699G>T	ENST00000328914.4	+	5	1125	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCTGGGAAGGGGTCCTTTT	0.557																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1123-1125)aaG>aaT		forkhead box K1							79	86	84					7																	4796699		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle 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|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.chr7:4796699G>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1125G>T	7.37:g.4796699G>T	ENSP00000328720:p.Lys375Asn		Somatic				FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	p.K375N	NM_001037165.1	NP_001032242.1	WXS	Illumina GAIIx	Phase_I	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1125	+		Ovarian(82;0.0175)	375						Missense_Mutation	SNP	ENST00000328914.4	37	c.1125G>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815258	0.70912	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97665	-4.48;-4.48	5.8	3.02	0.34903	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.93328	3.405	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.98688	1.0695	10	0.87932	D	0	.	10.5939	0.45325	0.2098:0.0:0.7902:0.0	.	375;212	P85037;P85037-2	FOXK1_HUMAN;.	N	212;139;375;258	ENSP00000394442:K212N;ENSP00000328720:K375N	ENSP00000328720:K375N	K	+	3	2	FOXK1	4763225	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.480000	0.22244	0.803000	0.34113	-0.140000	0.14226	AAG		0.557	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	141	6	141	---	---	---	---	T	4796699	G	T	4796699	3	4	72	1	0	0	0	0	1	0	0	0	6014	991	35	1	1143	1	FOXK1	7	4796699	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	3665251	4796699	154341964	58	3434										
AIMP2	7965	broad.mit.edu	37	chr7	6054935	6054935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ataatccaagcggatgagccCacgactttaaccaccaatgc	7	13	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.chr7:6054935C>A	ENST00000223029.3	+	2	413	c.294C>A	c.(292-294)ccC>ccA	p.P98P	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Silent_p.P20P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	98	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGATGAGCCCACGACTTTAA	0.458																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(292-294)ccC>ccA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							116	104	108					7																	6054935		2203	4300	6503	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054935C>A	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.294C>A	7.37:g.6054935C>A			Somatic				AIMP2_ENST00000400479.2_Silent_p.P20P|AIMP2_ENST00000395236.2_Intron	p.P98P	NM_006303.3	NP_006294.2	WXS	Illumina GAIIx	Phase_I	Q13155	AIMP2_HUMAN			2	413	+			98		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).	Interaction with PARK2.		Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.294C>A	CCDS5344.1																																																																																				0.458	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		5	97	5	97	---	---	---	---	A	6054935	C	A	6054935	2	1	72	1	0	0	0	0	0	0	0	1	434	581	21	1		1	AIMP2	7	6054935	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1258236	6054935	153083728	59	3435										
C7orf31	136895	broad.mit.edu	37	chr7	25175953	25175953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	catattatactgatcacgtaGgggagatttaagattttcat	8	5	2	3	rs35154287	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.chr7:25175953G>T	ENST00000409280.1	-	10	1719	c.1411C>A	c.(1411-1413)Cta>Ata	p.L471I	C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	471										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGATCACGTAGGGGAGATTTA	0.383																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(1411-1413)Cta>Ata		chromosome 7 open reading frame 31							209	222	217					7																	25175953		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175953G>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.1411C>A	7.37:g.25175953G>T	ENSP00000386604:p.Leu471Ile		Somatic				C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I	p.L471I			WXS	Illumina GAIIx	Phase_I	Q8N865	CG031_HUMAN			10	1719	-			471					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1411C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934340	0.02340	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.0	-9.99	0.00435	.	2.751950	0.01197	N	0.007499	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40117	-0.9580	10	0.18276	T	0.48	-27.6333	1.4722	0.02418	0.2586:0.0819:0.3149:0.3445	.	471	Q8N865	CG031_HUMAN	I	471	ENSP00000386604:L471I;ENSP00000283905:L471I	ENSP00000283905:L471I	L	-	1	2	C7orf31	25142478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.122000	0.03267	-3.064000	0.00255	-0.897000	0.02905	CTA		0.383	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		7	283	7	283	---	---	---	---	T	25175953	G	T	25175953	3	4	72	1	0	0	0	0	1	0	0	0	2387	991	35	1	365	1	C7orf31	7	25175953	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	19121018	25175953	133962710	60	3436										
BMPER	168667	broad.mit.edu	37	chr7	34009963	34009963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gggcgttgtcacagagtctgGggtgcgctgtgttgttcatt	16	7	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.chr7:34009963G>T	ENST00000297161.2	+	6	799	c.425G>T	c.(424-426)gGg>gTg	p.G142V	BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						ACAGAGTCTGGGGTGCGCTGT	0.493																																						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.(424-426)gGg>gTg		BMP binding endothelial regulator							236	200	212					7																	34009963		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.chr7:34009963G>T		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.425G>T	7.37:g.34009963G>T	ENSP00000297161:p.Gly142Val		Somatic				BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	p.G142V	NM_133468.4	NP_597725.1	WXS	Illumina GAIIx	Phase_I	Q8N8U9	BMPER_HUMAN			6	799	+			142			VWFC 2.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.425G>T	CCDS5442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.584|8.584	0.883083|0.883083	0.17467|0.17467	.|.	.|.	ENSG00000164619|ENSG00000164619	ENST00000297161;ENST00000426693|ENST00000436222	T;T|.	0.63913|.	-0.07;-0.07|.	5.75|5.75	1.93|1.93	0.25924|0.25924	von Willebrand factor, type C (1);|.	0.154328|0.154328	0.56097|0.56097	D|D	0.000028|0.000028	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.02802|0.02802	-0.49|-0.49	0.34551|0.34551	D|D	0.711296|0.711296	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.36672|0.36672	-0.9738|-0.9738	10|7	0.31617|0.87932	T|D	0.26|0	.|.	8.4724|8.4724	0.32993|0.32993	0.6909:0.2448:0.0643:0.0|0.6909:0.2448:0.0643:0.0	.|.	142|.	Q8N8U9|.	BMPER_HUMAN|.	V|W	142|109	ENSP00000297161:G142V;ENSP00000393950:G142V|.	ENSP00000297161:G142V|ENSP00000399843:G109W	G|G	+|+	2|1	0|0	BMPER|BMPER	33976488|33976488	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.653000|0.653000	0.38743|0.38743	4.202000|4.202000	0.58446|0.58446	0.075000|0.075000	0.16796|0.16796	-0.294000|-0.294000	0.09567|0.09567	GGG|GGG		0.493	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		6	153	6	153	---	---	---	---	T	34009963	G	T	34009963	3	4	72	1	0	0	0	0	1	0	0	0	1468	1232	43	1	443	1	BMPER	7	34009963	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	8834010	34009963	125128700	61	3437										
ZNF789	285989	broad.mit.edu	37	chr7	99079801	99079801	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ttcagtttatttccagtttgAtgctgcaataccactgtgct	7	9	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.chr7:99079801A>C	ENST00000331410.5	+	4	421				ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000379724.3_Missense_Mutation_p.D56A|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR	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			Somatic				ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron	p.D56A	NM_001013258.1	NP_001013276.1	WXS	Illumina GAIIx	Phase_I	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	11	49	---	---	---	---	C	99079801	A	C	99079801	1	2	72	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	65069838	99079801	60058862	62	3438										
ZNF3	7551	broad.mit.edu	37	chr7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagtaggaccccatgtgatcTtgtgtcttcagaaatttctt	8	9	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.chr7:99669788T>C	ENST00000424697.1	-	6	625	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.R107G	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		Somatic				ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	p.R107G			WXS	Illumina GAIIx	Phase_I	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	16	81	---	---	---	---	C	99669788	T	C	99669788	3	2	72	1	0	0	0	0	1	0	0	0	17826	1617	56	2	1154	2	ZNF3	7	99669788	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	589987	99669788	59468875	63	3439										
ORAI2	80228	broad.mit.edu	37	chr7	102087367	102087367	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtgcccgtgggcctcatcttCgtggtcttcaccatccactt	9	15	4	0	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_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR	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			Somatic				ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_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	WXS	Illumina GAIIx	Phase_I	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	6	36	---	---	---	---	T	102087367	C	T	102087367	2	4	72	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	64	3440										
PNPLA8	50640	broad.mit.edu	37	chr7	108142978	108142978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gagaattcggattcctctccCtttcactggatccacatagc	7	13	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.chr7:108142978C>A	ENST00000422087.1	-	6	1721	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000426128.2_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	439					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						ATTCCTCTCCCTTTCACTGGA	0.358																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1315-1317)Ggg>Tgg		patatin-like phospholipase domain containing 8							105	108	107					7																	108142978		2203	4300	6503	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.chr7:108142978C>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.1315G>T	7.37:g.108142978C>A	ENSP00000410804:p.Gly439Trp		Somatic				PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000422087.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W	p.G439W	NM_001256009.1	NP_001242938.1	WXS	Illumina GAIIx	Phase_I	Q9NP80	PLPL8_HUMAN			4	1440	-			439					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1315G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030329	0.93575	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2	6.08	6.08	0.98989	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52924	-0.8510	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	439	Q9NP80	PLPL8_HUMAN	W	439;439;439;439;339;439;339	ENSP00000394988:G439W;ENSP00000257694:G439W;ENSP00000373380:G439W;ENSP00000410804:G439W;ENSP00000387789:G339W;ENSP00000406779:G439W;ENSP00000402274:G339W	ENSP00000257694:G439W	G	-	1	0	PNPLA8	107930214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.784000	0.85713	2.894000	0.99253	0.591000	0.81541	GGG		0.358	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		5	100	5	100	---	---	---	---	A	108142978	C	A	108142978	3	1	72	1	0	0	0	0	1	0	0	0	12171	681	24	1	1061	1	PNPLA8	7	108142978	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6055611	108142978	50995685	65	3441										
AASS	10157	broad.mit.edu	37	chr7	121753227	121753227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agcattctgtagcttcaattGggagctgtgccggcaaattg	12	8	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.chr7:121753227G>T	ENST00000393376.1	-	10	1318	c.1223C>A	c.(1222-1224)cCa>cAa	p.P408Q	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	408	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						AGCTTCAATTGGGAGCTGTGC	0.403																																						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.(1222-1224)cCa>cAa		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						103	92	95					7																	121753227		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121753227G>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.1223C>A	7.37:g.121753227G>T	ENSP00000377040:p.Pro408Gln		Somatic				AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q	p.P408Q			WXS	Illumina GAIIx	Phase_I	Q9UDR5	AASS_HUMAN			10	1318	-			408			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1223C>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720342	0.89205	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89914	0.4054	9	0.87932	D	0	-11.5579	18.5956	0.91228	0.0:0.0:1.0:0.0	.	408	Q9UDR5	AASS_HUMAN	Q	408	.	ENSP00000351834:P408Q	P	-	2	0	AASS	121540463	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	9.813000	0.99286	2.459000	0.83118	0.655000	0.94253	CCA		0.403	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	49	4	49	---	---	---	---	T	121753227	G	T	121753227	3	4	72	1	0	0	0	0	1	0	0	0	24	1348	47	1	1613	1	AASS	7	121753227	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	13610249	121753227	37385436	66	3442										
ZNF398	57541	broad.mit.edu	37	chr7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agagcgccctttctcctgccCtcagtgtggcattgacttca	9	14	3	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.chr7:148876421C>T	ENST00000475153.1	+	6	1724	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000420008.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000483892.1_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	57541				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		Somatic				ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L	p.P315L	NM_170686.2	NP_733787.1	WXS	Illumina GAIIx	Phase_I	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	12	61	---	---	---	---	T	148876421	C	T	148876421	3	4	72	1	0	0	0	0	1	0	0	0	17882	681	24	2	1479	2	ZNF398	7	148876421	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	27123194	148876421	10262242	67	3443										
AGAP3	116988	broad.mit.edu	37	chr7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagctctggctgtgcaggccGtccgcaccgtccgcggcaac	13	17	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		Somatic				AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	p.V668I	NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	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	42	202	---	---	---	---	A	150839292	G	A	150839292	3	1	72	1	0	0	0	0	1	0	0	0	369	1145	40	2	2127	2	AGAP3	7	150839292	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1962871	150839292	8299371	68	3444										
MLL3	58508	broad.mit.edu	37	chr7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgagggtggctgagaagtctGagcctgagaaagactatcct	14	7	1	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.chr7:151879331G>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*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*	p.Q1872*			WXS	Illumina GAIIx	Phase_I					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	27	122	---	---	---	---	A	151879331	G	A	151879331	4	1	72	1	0	0	0	0	0	1	0	0	9622	1299	45	2	9217	2	MLL3	7	151879331	Nonsense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1040039	151879331	7259332	69	3445										
PSD3	23362	broad.mit.edu	37	chr8	18729462	18729462	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cctcctgtccacagtatttcCactccttgaaattccacatg	4	15	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.chr8:18729462C>A	ENST00000327040.8	-	3	1014	c.912G>T	c.(910-912)gtG>gtT	p.V304V	PSD3_ENST00000523619.1_Silent_p.V239V|PSD3_ENST00000440756.2_Silent_p.V304V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	304					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)		ACAGTATTTCCACTCCTTGAA	0.522																																						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.(910-912)gtG>gtT		pleckstrin and Sec7 domain containing 3							107	111	110					8																	18729462		1999	4162	6161	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729462C>A	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.912G>T	8.37:g.18729462C>A			Somatic				PSD3_ENST00000327040.8_Silent_p.V304V|PSD3_ENST00000523619.1_Silent_p.V239V	p.V304V			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1014	-			304					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.912G>T	CCDS43720.1																																																																																				0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		5	127	5	127	---	---	---	---	A	18729462	C	A	18729462	2	1	72	1	0	0	0	0	0	0	0	1	12648	581	21	1		1	PSD3	8	18729462	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		18729462	127634560	70	3446										
MTDH	92140	broad.mit.edu	37	chr8	98701313	98701313	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcaactttaaatctggaaaaGgagattctacacttcagggt	9	7	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.chr8:98701313G>T	ENST00000336273.3	+	5	1121	c.793G>T	c.(793-795)Gga>Tga	p.G265*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	265					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)			ATCTGGAAAAGGAGATTCTAC	0.299																																						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.(793-795)Gga>Tga		metadherin							52	60	57					8																	98701313		2201	4276	6477	SO:0001587	stop_gained	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.chr8:98701313G>T	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.793G>T	8.37:g.98701313G>T	ENSP00000338235:p.Gly265*		Somatic				MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	p.G265*	NM_178812.3	NP_848927.2	WXS	Illumina GAIIx	Phase_I	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		5	1121	+	Breast(36;2.56e-06)		265					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Nonsense_Mutation	SNP	ENST00000336273.3	37	c.793G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459112	0.84317	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	.	.	.	5.84	4.94	0.65067	.	0.173529	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.1842	12.4183	0.55506	0.0805:0.0:0.9195:0.0	.	.	.	.	X	265;242	.	ENSP00000338235:G265X	G	+	1	0	MTDH	98770489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.689000	0.61723	1.408000	0.46895	0.557000	0.71058	GGA		0.299	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			6	125	6	125	---	---	---	---	T	98701313	G	T	98701313	4	4	72	1	0	0	0	0	0	1	0	0	9917	1001	35	1	811	1	MTDH	8	98701313	Nonsense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	79971851	98701313	47662709	71	3447										
POP1	10940	broad.mit.edu	37	chr8	99146744	99146744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcttgtctggaaagcgccaaGggagccttgtgctttatcgg	14	9	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.chr8:99146744G>T	ENST00000401707.2	+	7	949	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	POP1_ENST00000349693.3_Missense_Mutation_p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	290					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCGCCAAGGGAGCCTTGT	0.493																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(868-870)Ggg>Tgg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							125	125	125					8																	99146744		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99146744G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.868G>T	8.37:g.99146744G>T	ENSP00000385787:p.Gly290Trp		Somatic				POP1_ENST00000349693.3_Missense_Mutation_p.G290W	p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	WXS	Illumina GAIIx	Phase_I	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		7	949	+	Breast(36;1.78e-06)		290					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.868G>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992756	0.93167	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.40756	1.02;1.02	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.86740	2.835	0.80722	D	1	P	0.46395	0.877	P	0.53006	0.715	T	0.63332	-0.6661	10	0.36615	T	0.2	-8.4628	18.8049	0.92032	0.0:0.0:1.0:0.0	.	290	Q99575	POP1_HUMAN	W	290	ENSP00000385787:G290W;ENSP00000339529:G290W	ENSP00000339529:G290W	G	+	1	0	POP1	99215920	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GGG		0.493	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		6	124	6	124	---	---	---	---	T	99146744	G	T	99146744	3	4	72	1	0	0	0	0	1	0	0	0	12251	1000	35	1	890	1	POP1	8	99146744	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	445431	99146744	47217278	72	3448										
FZD6	8323	broad.mit.edu	37	chr8	104340581	104340581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tggcatctctgctgtcttctGggttggaagcaaaaagacat	11	8	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.chr8:104340581G>T	ENST00000358755.4	+	5	1795	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	FZD6_ENST00000522566.1_Missense_Mutation_p.W493L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000540287.1_Missense_Mutation_p.W188L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	493					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)			GCTGTCTTCTGGGTTGGAAGC	0.358																																						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.(1477-1479)tGg>tTg		frizzled family receptor 6							100	104	103					8																	104340581		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.chr8:104340581G>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.1478G>T	8.37:g.104340581G>T	ENSP00000351605:p.Trp493Leu		Somatic				FZD6_ENST00000540287.1_Missense_Mutation_p.W188L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000522566.1_Missense_Mutation_p.W493L	p.W493L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	WXS	Illumina GAIIx	Phase_I	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1795	+			493					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1478G>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184362	0.94885	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.238637	0.46758	D	0.000266	D	0.96926	0.8996	M	0.94142	3.5	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;0.999;1.0	D	0.97580	1.0110	10	0.87932	D	0	.	19.6532	0.95825	0.0:0.0:1.0:0.0	.	438;188;493;493	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	L	493;493;461;188;438	ENSP00000429055:W493L;ENSP00000351605:W493L;ENSP00000429528:W461L;ENSP00000443757:W188L	ENSP00000351605:W493L	W	+	2	0	FZD6	104409757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.568000	0.98166	2.718000	0.92993	0.467000	0.42956	TGG		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	78	5	78	---	---	---	---	T	104340581	G	T	104340581	3	4	72	1	0	0	0	0	1	0	0	0	6134	1357	47	1	1492	1	FZD6	8	104340581	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	5193837	104340581	42023441	73	3449										
PKHD1L1	93035	broad.mit.edu	37	chr8	110457298	110457298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	taatacatggagtgcctgccCagtgccagggaaactgcacc	11	12	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.chr8:110457298C>A	ENST00000378402.5	+	38	5304	c.5200C>A	c.(5200-5202)Cag>Aag	p.Q1734K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1734	IPT/TIG 9.				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)			AGTGCCTGCCCAGTGCCAGGG	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.(5200-5202)Cag>Aag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							163	157	159					8																	110457298		1916	4141	6057	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457298C>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.5200C>A	8.37:g.110457298C>A	ENSP00000367655:p.Gln1734Lys	HNSCC(38;0.096)	Somatic					p.Q1734K	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5304	+			1734			IPT/TIG 9.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5200C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857971	0.17178	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	6.17	3.36	0.38483	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.380726	0.28001	N	0.016990	T	0.52141	0.1716	N	0.25144	0.715	0.09310	N	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.33574	-0.9863	10	0.06365	T	0.9	.	6.5815	0.22596	0.1351:0.6637:0.1302:0.0711	.	1734	Q86WI1	PKHL1_HUMAN	K	1734	ENSP00000367655:Q1734K	ENSP00000367655:Q1734K	Q	+	1	0	PKHD1L1	110526474	0.141000	0.22595	0.575000	0.28536	0.986000	0.74619	0.754000	0.26390	0.442000	0.26555	0.655000	0.94253	CAG		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	313	7	313	---	---	---	---	A	110457298	C	A	110457298	3	1	72	1	0	0	0	0	1	0	0	0	11972	595	21	1	5350	1	PKHD1L1	8	110457298	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6116717	110457298	35906724	74	3450										
CSMD3	114788	broad.mit.edu	37	chr8	113402985	113402985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tccaggtgacaaaatagtccCtttgcgcttagttaaaattc	7	9	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.chr8:113402985C>A	ENST00000297405.5	-	36	6086	c.5842G>T	c.(5842-5844)Ggg>Tgg	p.G1948W	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1948	CUB 11. {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						AAAATAGTCCCTTTGCGCTTA	0.413										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.(5842-5844)Ggg>Tgg		CUB and Sushi multiple domains 3							87	80	82					8																	113402985		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113402985C>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.5842G>T	8.37:g.113402985C>A	ENSP00000297405:p.Gly1948Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W	p.G1948W	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			36	6086	-			1948			CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5842G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554105	0.65425	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.24	5.24	0.73138	CUB (5);	0.000000	0.64402	D	0.000001	T	0.81978	0.4937	H	0.98507	4.25	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	0.88940	0.3379	10	0.87932	D	0	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	1844;1948;1908	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	1908;1948;1218;1844;1878	ENSP00000345799:G1908W;ENSP00000297405:G1948W;ENSP00000341558:G1218W;ENSP00000412263:G1844W;ENSP00000343124:G1878W	ENSP00000297405:G1948W	G	-	1	0	CSMD3	113472161	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	7.640000	0.83355	2.733000	0.93635	0.467000	0.42956	GGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	58	5	58	---	---	---	---	A	113402985	C	A	113402985	3	1	72	1	0	0	0	0	1	0	0	0	3946	681	24	1	5425	1	CSMD3	8	113402985	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2945687	113402985	32961037	75	3451										
ENPP2	5168	broad.mit.edu	37	chr8	120606084	120606084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccacaattttgtcgatttccCtcagaggatttgtcatctag	7	10	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.chr8:120606084C>A	ENST00000075322.6	-	12	1047	c.989G>T	c.(988-990)aGg>aTg	p.R330M	ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M|ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000427067.2_Missense_Mutation_p.R326M|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					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)			GTCGATTTCCCTCAGAGGATT	0.423																																					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.(976-978)aGg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 2							253	236	242					8																	120606084		2203	4300	6503	SO:0001583	missense	5168				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.chr8:120606084C>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.989G>T	8.37:g.120606084C>A	ENSP00000075322:p.Arg330Met		Somatic				ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330M|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M	p.R326M			WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1157	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		330					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.977G>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950474	0.73787	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095715	0.64402	D	0.000001	D	0.83096	0.5180	M	0.63843	1.955	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.983;0.98;0.982	T	0.83249	-0.0054	10	0.54805	T	0.06	.	13.0438	0.58915	0.0:0.9263:0.0:0.0737	.	330;330;382	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	M	382;326;330;330	ENSP00000259486:R382M;ENSP00000403315:R326M;ENSP00000428291:R330M;ENSP00000075322:R330M	ENSP00000075322:R330M	R	-	2	0	ENPP2	120675265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	2.744000	0.94065	0.655000	0.94253	AGG		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	287	7	287	---	---	---	---	A	120606084	C	A	120606084	3	1	72	1	0	0	0	0	1	0	0	0	5130	681	24	1	1737	1	ENPP2	8	120606084	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7203099	120606084	25757938	76	3452										
ATAD2	29028	broad.mit.edu	37	chr8	124357245	124357245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtgtcggtccaactatttccCaccacacgtggatatgagga	10	11	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.chr8:124357245C>A	ENST00000287394.5	-	19	2704	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	866					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)			AACTATTTCCCACCACACGTG	0.393																																						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.(2596-2598)tGg>tTg		ATPase family, AAA domain containing 2							235	207	217					8																	124357245		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124357245C>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.2597G>T	8.37:g.124357245C>A	ENSP00000287394:p.Trp866Leu		Somatic				ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	p.W866L	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		19	2704	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		866					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2597G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053411	0.93793	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.80824	-1.42;-1.42	5.49	5.49	0.81192	.	0.061142	0.64402	D	0.000001	D	0.87136	0.6102	L	0.56340	1.77	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.84381	0.0549	10	0.29301	T	0.29	-7.8494	19.3552	0.94410	0.0:1.0:0.0:0.0	.	866	Q6PL18	ATAD2_HUMAN	L	866;184	ENSP00000287394:W866L;ENSP00000429213:W184L	ENSP00000287394:W866L	W	-	2	0	ATAD2	124426426	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.818000	0.86416	2.576000	0.86940	0.591000	0.81541	TGG		0.393	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	258	7	258	---	---	---	---	A	124357245	C	A	124357245	3	1	72	1	0	0	0	0	1	0	0	0	1071	595	21	1	1615	1	ATAD2	8	124357245	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	3751161	124357245	22006777	77	3453										
KLHL38	340359	broad.mit.edu	37	chr8	124663855	124663855	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gttctgcatgatgtcctctcCtccaaagagatagagtcttt	8	10	3	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.chr8:124663855C>A	ENST00000325995.7	-	1	1335	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	438										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATGTCCTCTCCTCCAAAGAGA	0.542																																						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.(1312-1314)Gga>Tga		kelch-like family member 38							139	136	137					8																	124663855		2034	4200	6234	SO:0001587	stop_gained	340359							g.chr8:124663855C>A		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.1312G>T	8.37:g.124663855C>A	ENSP00000321475:p.Gly438*		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.G438*	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1335	-			438					A0PK12	Nonsense_Mutation	SNP	ENST00000325995.7	37	c.1312G>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	38	7.149542	0.98096	.	.	ENSG00000175946	ENST00000325995	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3576	0.94421	0.0:1.0:0.0:0.0	.	.	.	.	X	438	.	ENSP00000321475:G438X	G	-	1	0	KLHL38	124733036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.571000	0.86741	0.561000	0.74099	GGA		0.542	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			6	146	6	146	---	---	---	---	A	124663855	C	A	124663855	4	1	72	1	0	0	0	0	0	1	0	0	8390	690	24	1	445	1	KLHL38	8	124663855	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	306610	124663855	21700167	78	3454										
FER1L6	654463	broad.mit.edu	37	chr8	125078687	125078687	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aggatcccaggaagccttccCggaggtccactaagaggaga	13	11	0	2	rs532032781	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.chr8:125078687C>A	ENST00000522917.1	+	27	3780	c.3574C>A	c.(3574-3576)Cgg>Agg	p.R1192R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1192R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1192						integral component of membrane (GO:0016021)		p.R1192R(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	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCCTTCCCGGAGGTCCAC	0.488																																						ENST00000522917.1																			1	Substitution - coding silent(1)	p.R1192R(1)	kidney(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.(3574-3576)Cgg>Agg		fer-1-like 6 (C. elegans)							240	235	237					8																	125078687		1893	4122	6015	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125078687C>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.3574C>A	8.37:g.125078687C>A			Somatic				FER1L6_ENST00000399018.1_Silent_p.R1192R|FER1L6-AS2_ENST00000520031.1_RNA	p.R1192R	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		27	3780	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1192						Silent	SNP	ENST00000522917.1	37	c.3574C>A	CCDS43767.1																																																																																				0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	457	8	457	---	---	---	---	A	125078687	C	A	125078687	2	1	72	1	0	0	0	0	0	0	0	1	5815	643	23	1		1	FER1L6	8	125078687	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	414832	125078687	21285335	79	3455										
ZNF7	7553	broad.mit.edu	37	chr8	146066830	146066830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gacagtggtcagaatctcccCacaggactttcctcagaatc	8	13	3	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.chr8:146066830C>A	ENST00000528372.1	+	5	578	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q			P17097	ZNF7_HUMAN	zinc finger protein 7	113					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)		AGAATCTCCCCACAGGACTTT	0.473																																						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.(337-339)cCa>cAa		zinc finger protein 7							147	152	150					8																	146066830		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.chr8:146066830C>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.338C>A	8.37:g.146066830C>A	ENSP00000432724:p.Pro113Gln		Somatic				ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q	p.P113Q			WXS	Illumina GAIIx	Phase_I	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	578	+	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)	113					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.338C>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226277	0.22542	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000533314;ENST00000527218;ENST00000528372	T;T;T;T;T;T;T	0.06933	7.23;3.52;3.52;3.24;4.41;5.82;3.52	4.27	0.943	0.19531	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.44421	-0.9329	9	0.26408	T	0.33	.	2.5406	0.04725	0.2313:0.4968:0.0:0.2719	.	124;113	B4DT08;P17097	.;ZNF7_HUMAN	Q	113;113;124;17;146;112;113	ENSP00000432641:P113Q;ENSP00000320627:P113Q;ENSP00000393260:P124Q;ENSP00000439424:P17Q;ENSP00000433630:P146Q;ENSP00000433656:P112Q;ENSP00000432724:P113Q	ENSP00000320627:P113Q	P	+	2	0	ZNF7	146037634	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.835000	0.27531	0.358000	0.24211	0.563000	0.77884	CCA		0.473	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		7	260	7	260	---	---	---	---	A	146066830	C	A	146066830	3	1	72	1	0	0	0	0	1	0	0	0	18099	594	21	1	352	1	ZNF7	8	146066830	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	20988143	146066830	297192	80	3456										
PRUNE2	158471	broad.mit.edu	37	chr9	79320978	79320978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agggcttcttagcatctatcCacaagtcaggcgcggcagag	12	11	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.chr9:79320978C>A	ENST00000376718.3	-	8	6335	c.6212G>T	c.(6211-6213)tGg>tTg	p.W2071L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.W1712L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					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						AGCATCTATCCACAAGTCAGG	0.517																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5134-5136)tGg>tTg		prune homolog 2 (Drosophila)							158	149	152					9																	79320978		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320978C>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.6212G>T	9.37:g.79320978C>A	ENSP00000365908:p.Trp2071Leu		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071L	p.W1712L			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			8	6335	-			2071					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5135G>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112767	0.56398	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.74526	-0.85;-0.74	6.03	6.03	0.97812	.	0.000000	0.53938	D	0.000049	D	0.86343	0.5910	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86173	0.1601	10	0.87932	D	0	-7.6254	20.5666	0.99351	0.0:1.0:0.0:0.0	.	2071	Q8WUY3	PRUN2_HUMAN	L	2071;1712;2070	ENSP00000365908:W2071L;ENSP00000397425:W1712L	ENSP00000365908:W2071L	W	-	2	0	PRUNE2	78510798	1.000000	0.71417	0.999000	0.59377	0.104000	0.19210	5.359000	0.66074	2.854000	0.98071	0.655000	0.94253	TGG		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	186	6	186	---	---	---	---	A	79320978	C	A	79320978	3	1	72	1	0	0	0	0	1	0	0	0	12641	595	21	1	3102	1	PRUNE2	9	79320978	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		79320978	61892453	81	3457										
GKAP1	80318	broad.mit.edu	37	chr9	86368205	86368205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gattacatttttcagcttctGgatttcagcatctttccttt	5	9	4	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.chr9:86368205G>T	ENST00000376371.2	-	9	1208	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	270					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCAGCTTCTGGATTTCAGCA	0.323																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(808-810)Cag>Aag		G kinase anchoring protein 1							165	166	166					9																	86368205		2203	4297	6500	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86368205G>T	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.808C>A	9.37:g.86368205G>T	ENSP00000365550:p.Gln270Lys		Somatic				GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	p.Q270K	NM_025211.3	NP_079487.2	WXS	Illumina GAIIx	Phase_I	Q5VSY0	GKAP1_HUMAN			9	1208	-			270					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.808C>A	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335484	0.24253	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.67	5.67	0.87782	.	0.205342	0.51477	D	0.000084	T	0.43831	0.1265	N	0.22421	0.69	0.35456	D	0.796147	B;B	0.18461	0.001;0.028	B;B	0.16289	0.007;0.015	T	0.46148	-0.9212	9	0.12430	T	0.62	-21.371	17.5231	0.87792	0.0:0.0:1.0:0.0	.	219;270	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	270;219	.	ENSP00000365544:Q219K	Q	-	1	0	GKAP1	85558025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.249000	0.58766	2.671000	0.90904	0.557000	0.71058	CAG		0.323	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		6	103	6	103	---	---	---	---	T	86368205	G	T	86368205	3	4	72	1	0	0	0	0	1	0	0	0	6423	1357	47	1	312	1	GKAP1	9	86368205	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	7047227	86368205	54845226	82	3458										
NFIL3	4783	broad.mit.edu	37	chr9	94172257	94172257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgggggagagtgtgagtaccCagagaaagaattccccatat	13	7	0	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.chr9:94172257C>A	ENST00000297689.3	-	2	1154	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	254					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)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGAGTACCCAGAGAAAGAA	0.498																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(760-762)Ggg>Tgg		nuclear factor, interleukin 3 regulated							123	127	126					9																	94172257		2203	4300	6503	SO:0001583	missense	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.chr9:94172257C>A	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.760G>T	9.37:g.94172257C>A	ENSP00000297689:p.Gly254Trp		Somatic					p.G254W	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1154	-			254					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.760G>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554840	0.27739	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	2.78	0.32641	Vertebrate interleukin-3 regulated transcription factor (1);	0.411149	0.22504	N	0.059191	T	0.52125	0.1715	L	0.59436	1.845	0.09310	N	1	D	0.65815	0.995	P	0.59171	0.853	T	0.42548	-0.9445	9	0.87932	D	0	-15.2359	9.4644	0.38804	0.0:0.763:0.0:0.237	.	254	Q16649	NFIL3_HUMAN	W	254	.	ENSP00000297689:G254W	G	-	1	0	NFIL3	93212078	0.000000	0.05858	0.003000	0.11579	0.091000	0.18340	0.077000	0.14738	0.567000	0.29293	0.561000	0.74099	GGG		0.498	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		6	143	6	143	---	---	---	---	A	94172257	C	A	94172257	3	1	72	1	0	0	0	0	1	0	0	0	10373	594	21	1	632	1	NFIL3	9	94172257	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7804052	94172257	47041174	83	3459										
AKAP2	11217	broad.mit.edu	37	chr9	112898650	112898650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ttactgatcaccacgaatccCtggataatgatgttgccaga	8	10	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.chr9:112898650C>A	ENST00000259318.7	+	2	340	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.L276M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M|AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	45										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCACGAATCCCTGGATAATGA	0.507																																						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.(826-828)Ctg>Atg									178	153	162					9																	112898650		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898650C>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.133C>A	9.37:g.112898650C>A	ENSP00000259318:p.Leu45Met		Somatic				AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000259318.7_Missense_Mutation_p.L45M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M	p.L276M	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D5	AKAP2_HUMAN			8	1006	+			45					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.826C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971292	0.74246	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52295	1.99;1.99;1.99;1.99;1.27;0.69;0.67;1.29	6.17	5.27	0.74061	.	0.162049	0.43416	D	0.000575	T	0.63224	0.2493	M	0.66939	2.045	0.41231	D	0.986574	P;D;D;D;D;D;D;D	0.76494	0.858;0.981;0.959;0.981;0.968;0.999;0.999;0.999	B;P;B;P;P;D;D;D	0.74023	0.365;0.799;0.433;0.799;0.635;0.982;0.982;0.96	T	0.66775	-0.5838	10	0.72032	D	0.01	-19.1095	8.8072	0.34945	0.1493:0.7754:0.0:0.0753	.	45;134;128;134;135;276;276;94	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	M	276;276;276;276;134;134;94;45	ENSP00000363654:L276M;ENSP00000305861:L276M;ENSP00000451476:L276M;ENSP00000421522:L276M;ENSP00000404782:L134M;ENSP00000363649:L134M;ENSP00000419268:L94M;ENSP00000259318:L45M	ENSP00000259318:L45M	L	+	1	2	PALM2-AKAP2;AKAP2	111938471	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	2.063000	0.41423	1.598000	0.50083	0.655000	0.94253	CTG		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	124	5	124	---	---	---	---	A	112898650	C	A	112898650	3	1	72	1	0	0	0	0	1	0	0	0	451	680	24	1	406	1	AKAP2	9	112898650	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	18726393	112898650	28314781	84	3460										
KIAA0368	23392	broad.mit.edu	37	chr9	114204657	114204657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gccagttcacattgtttttcCactggtaggcgaggatagcc	11	10	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.chr9:114204657C>A	ENST00000338205.5	-	4	537	c.318G>T	c.(316-318)gtG>gtT	p.V106V	KIAA0368_ENST00000259335.4_Silent_p.V284V			Q5VYK3	ECM29_HUMAN	KIAA0368	112					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						ATTGTTTTTCCACTGGTAGGC	0.398																																						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.(850-852)gtG>gtT		KIAA0368							71	69	70					9																	114204657		1914	4133	6047	SO:0001819	synonymous_variant	23392							g.chr9:114204657C>A	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.318G>T	9.37:g.114204657C>A			Somatic				KIAA0368_ENST00000338205.5_Silent_p.V106V	p.V284V	NM_001080398.1	NP_001073867.1	WXS	Illumina GAIIx	Phase_I					6	851	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.852G>T																																																																																					0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		4	32	4	32	---	---	---	---	A	114204657	C	A	114204657	2	1	72	1	0	0	0	0	0	0	0	1	8171	581	21	1		1	KIAA0368	9	114204657	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1306007	114204657	27008774	85	3461										
TNC	3371	broad.mit.edu	37	chr9	117838732	117838732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atcaacctcagcgtggtcccCtccagagatgggggcatact	11	13	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.chr9:117838732C>A	ENST00000350763.4	-	8	3208	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	933	Fibronectin type-III 4. {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)			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						GCGTGGTCCCCTCCAGAGATG	0.522																																						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.(2797-2799)Ggg>Tgg		tenascin C							253	230	238					9																	117838732		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117838732C>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.2797G>T	9.37:g.117838732C>A	ENSP00000265131:p.Gly933Trp		Somatic				TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	p.G933W	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			8	3208	-			933			Fibronectin type-III 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2797G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974957	0.74360	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.293652	0.36932	N	0.002329	D	0.83917	0.5358	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	D	0.87440	0.2394	10	0.72032	D	0.01	.	20.1029	0.97881	0.0:1.0:0.0:0.0	.	933;933	E9PC84;P24821	.;TENA_HUMAN	W	933	ENSP00000344400:G933W;ENSP00000438152:G933W;ENSP00000344555:G933W;ENSP00000345861:G933W;ENSP00000265131:G933W;ENSP00000339553:G933W;ENSP00000411406:G933W;ENSP00000443478:G933W;ENSP00000442242:G933W	ENSP00000344400:G933W	G	-	1	0	TNC	116878553	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.665000	0.68052	2.754000	0.94517	0.655000	0.94253	GGG		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	228	7	228	---	---	---	---	A	117838732	C	A	117838732	3	1	72	1	0	0	0	0	1	0	0	0	16267	681	24	1	3892	1	TNC	9	117838732	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	3634075	117838732	23374699	86	3462										
APBB1IP	54518	broad.mit.edu	37	chr10	26825131	26825131	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tctggaatttattatgtaccCaaaggaaagactaaggtcag	9	6	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.chr10:26825131C>A	ENST00000376236.4	+	10	1484	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						ATTATGTACCCAAAGGAAAGA	0.333																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1027-1029)ccC>ccA		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							81	99	93					10																	26825131		2199	4297	6496	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825131C>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.1029C>A	10.37:g.26825131C>A			Somatic					p.P343P	NM_019043.3	NP_061916.3	WXS	Illumina GAIIx	Phase_I	Q7Z5R6	AB1IP_HUMAN			10	1484	+			343			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.1029C>A	CCDS31167.1																																																																																				0.333	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		7	183	7	183	---	---	---	---	A	26825131	C	A	26825131	2	1	72	1	0	0	0	0	0	0	0	1	760	581	21	1		1	APBB1IP	10	26825131	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		26825131	108709616	87	3463										
FUT11	170384	broad.mit.edu	37	chr10	75533466	75533466	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aaagcccacgcggcctctccCggggacagccccgtctttga	11	17	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.chr10:75533466C>A	ENST00000372841.3	+	2	1270	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.P409P|AC022400.2_ENST00000595757.1_5'Flank|RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	409					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGGCCTCTCCCGGGGACAGCC	0.587																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(1225-1227)ccC>ccA		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							71	74	73					10																	75533466		2203	4300	6503	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75533466C>A	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"Fucosyltransferases"	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1227C>A	10.37:g.75533466C>A			Somatic				FUT11_ENST00000394790.1_Silent_p.P409P|FUT11_ENST00000465695.1_3'UTR	p.P409P	NM_173540.2	NP_775811.2	WXS	Illumina GAIIx	Phase_I	Q495W5	FUT11_HUMAN			2	1270	+	Prostate(51;0.0112)		409					Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.1227C>A	CCDS7333.1																																																																																				0.587	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		5	137	5	137	---	---	---	---	A	75533466	C	A	75533466	2	1	72	1	0	0	0	0	0	0	0	1	6103	639	23	1		1	FUT11	10	75533466	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	48708335	75533466	60001281	88	3464										
CHCHD1	118487	broad.mit.edu	37	chr10	75542178	75542178	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aaagagatccagggcttcctCgattgtgccgcgagggctca	13	11	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.chr10:75542178C>A	ENST00000372833.5	+	2	235	c.222C>A	c.(220-222)ctC>ctA	p.L74L	CHCHD1_ENST00000372837.3_Silent_p.L74L	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	74	CHCH.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					AGGGCTTCCTCGATTGTGCCG	0.537																																						ENST00000372837.3																			0				breast(1)	1						c.(220-222)ctC>ctA		coiled-coil-helix-coiled-coil-helix domain containing 1							69	68	69					10																	75542178		2203	4300	6503	SO:0001819	synonymous_variant	118487					nucleus		g.chr10:75542178C>A	AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"Coiled-coil-helix-coiled-coil-helix domain containing"	23518	protein-coding gene	gene with protein product		608842	"chromosome 10 open reading frame 34"	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.222C>A	10.37:g.75542178C>A			Somatic				CHCHD1_ENST00000372833.5_Silent_p.L74L	p.L74L			WXS	Illumina GAIIx	Phase_I	Q96BP2	CHCH1_HUMAN			2	251	+	Prostate(51;0.0112)		74			CHCH.			Silent	SNP	ENST00000372833.5	37	c.222C>A	CCDS7334.1																																																																																				0.537	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1	XM_058325		4	98	4	98	---	---	---	---	A	75542178	C	A	75542178	2	1	72	1	0	0	0	0	0	0	0	1	3314	871	31	3		3	CHCHD1	10	75542178	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8712	75542178	59992569	89	3465										
DUSP13	51207	broad.mit.edu	37	chr10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000491677.2_Frame_Shift_Ins_p.Y229fs|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000372702.3_3'UTR	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)tatfs		dual specificity phosphatase 13																																				SO:0001589	frameshift_variant	51207					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		Somatic				DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.Y100fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	p.Y229fs	NM_001007271.1	NP_001007272.1	WXS	Illumina GAIIx	Phase_I	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	72	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	1313250	76855428	58679319	90	3466										
IFIT3	3437	broad.mit.edu	37	chr10	91099384	91099384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcgaataaagctcttgagaaGggactgaatcctctgaatgc	10	8	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.chr10:91099384G>T	ENST00000371818.4	+	2	1152	c.972G>T	c.(970-972)aaG>aaT	p.K324N	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	324					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						CTCTTGAGAAGGGACTGAATC	0.413																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(970-972)aaG>aaT		interferon-induced protein with tetratricopeptide repeats 3							103	92	96					10																	91099384		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099384G>T	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.972G>T	10.37:g.91099384G>T	ENSP00000360883:p.Lys324Asn		Somatic				LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	p.K324N	NM_001549.4	NP_001540.2	WXS	Illumina GAIIx	Phase_I	O14879	IFIT3_HUMAN			2	1152	+			324					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.972G>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	6.891	0.533923	0.13188	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.38077	1.16;1.16	4.28	-1.07	0.09968	Tetratricopeptide-like helical (1);	0.393266	0.25487	N	0.030330	T	0.20820	0.0501	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.13522	-1.0506	10	0.17369	T	0.5	-4.7061	1.7173	0.02904	0.2411:0.2525:0.3776:0.1288	.	324	O14879	IFIT3_HUMAN	N	324;324;145	ENSP00000360883:K324N;ENSP00000360876:K324N	ENSP00000360876:K324N	K	+	3	2	IFIT3	91089364	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.198000	0.17217	-0.169000	0.10834	0.651000	0.88453	AAG		0.413	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		5	57	5	57	---	---	---	---	T	91099384	G	T	91099384	3	4	72	1	0	0	0	0	1	0	0	0	7524	991	35	1	987	1	IFIT3	10	91099384	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	14243956	91099384	44435363	91	3467										
NEURL	9148	broad.mit.edu	37	chr10	105350078	105350078	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gctctgcacgcctgctgcccCatctgccgccgccccatcaa	8	21	3	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.chr10:105350078C>A	ENST00000369780.4	+	6	2083	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	NEURL_ENST00000369777.2_Silent_p.P541P|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		558					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)		CCTGCTGCCCCATCTGCCGCC	0.627																																						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.(1672-1674)ccC>ccA									72	58	62					10																	105350078		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105350078C>A																												ENST00000369780.4:c.1674C>A	10.37:g.105350078C>A			Somatic				SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.P541P	p.P558P	NM_004210.4	NP_004201.3	WXS	Illumina GAIIx	Phase_I	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	2083	+			558					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.1674C>A	CCDS7551.1																																																																																				0.627	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			5	49	5	49	---	---	---	---	A	105350078	C	A	105350078	2	1	72	1	0	0	0	0	0	0	0	1	10345	581	21	1		1	NEURL	10	105350078	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	14250694	105350078	30184669	92	3468										
C10orf118	55088	broad.mit.edu	37	chr10	115890993	115890993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atcttttaattcttctacctGggtactcaatgctttaactt	4	9	4	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.chr10:115890993G>T	ENST00000369287.3	-	12	2280	c.2014C>A	c.(2014-2016)Cag>Aag	p.Q672K	C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		672								p.Q672K(1)		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)		TCTTCTACCTGGGTACTCAAT	0.388																																						ENST00000369287.3																			1	Substitution - Missense(1)	p.Q672K(1)	lung(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2014-2016)Cag>Aag		chromosome 10 open reading frame 118							274	282	279					10																	115890993		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115890993G>T																												ENST00000369287.3:c.2014C>A	10.37:g.115890993G>T	ENSP00000358293:p.Gln672Lys		Somatic				C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	p.Q672K	NM_018017.2	NP_060487.2	WXS	Illumina GAIIx	Phase_I	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	12	2280	-		Colorectal(252;0.172)|Breast(234;0.188)	672					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2014C>A	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.93|10.93	1.488825|1.488825	0.26686|0.26686	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.21361	.|2.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.215352	.|0.49305	.|D	.|0.000147	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.16656|0.16656	0.425|0.425	0.33701|0.33701	D|D	0.614592|0.614592	.|B;B	.|0.20052	.|0.002;0.041	.|B;B	.|0.20384	.|0.005;0.029	T|T	0.11941|0.11941	-1.0567|-1.0567	5|10	.|0.22706	.|T	.|0.39	.|.	18.4718|18.4718	0.90777|0.90777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|270;672	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	Q|K	300|672;270;778	.|ENSP00000358293:Q672K	.|ENSP00000358293:Q672K	P|Q	-|-	2|1	0|0	C10orf118|C10orf118	115880983|115880983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	6.201000|6.201000	0.72124|0.72124	2.808000|2.808000	0.96608|0.96608	0.585000|0.585000	0.79938|0.79938	CCA|CAG		0.388	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			7	297	7	297	---	---	---	---	T	115890993	G	T	115890993	3	4	72	1	0	0	0	0	1	0	0	0	1587	1357	47	1	702	1	C10orf118	10	115890993	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	10540915	115890993	19643754	93	3469										
EIF3A	8661	broad.mit.edu	37	chr10	120802285	120802285	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cttctccacgtctccactccCtacacagcaacaagaacaat	3	17	2	1	rs113384668		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.chr10:120802285C>A	ENST00000369144.3	-	19	2875		c.e19-1		EIF3A_ENST00000541549.1_Splice_Site	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCCACTCCCTACACAGCAA	0.423																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.e19-1		eukaryotic translation initiation factor 3, subunit A							83	89	87					10																	120802285		2203	4300	6503	SO:0001630	splice_region_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802285C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2748-1G>T	10.37:g.120802285C>A			Somatic				EIF3A_ENST00000541549.1_Splice_Site		NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2875	-		Lung NSC(174;0.094)|all_lung(145;0.123)						B7ZBG9|Q6IBN8|Q96TD5	Splice_Site	SNP	ENST00000369144.3	37		CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244064	0.22796	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	6.16	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.829	0.85939	0.1296:0.8704:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF3A	120792275	1.000000	0.71417	0.994000	0.49952	0.496000	0.33645	2.567000	0.45956	1.571000	0.49722	0.650000	0.86243	.		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	Intron	6	146	6	146	---	---	---	---	A	120802285	C	A	120802285	5	1	72	1	0	0	0	0	0	0	1	0	5012	695	24	1	1417	1	EIF3A	10	120802285	Splice_Site	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	4911292	120802285	14732462	94	3470										
UBXN1	51035	broad.mit.edu	37	chr11	62444225	62444225	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tctttgcatccctccttttcCtaggcatgcctccctactcc	4	18	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.chr11:62444225C>A	ENST00000301935.5	-	8	1011				UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Nonsense_Mutation_p.G302*|UBXN1_ENST00000529640.1_Intron|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1						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						CCTCCTTTTCCTAGGCATGCC	0.512																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(904-906)Gga>Tga		UBX domain protein 1							154	148	150					11																	62444225		2202	4299	6501	SO:0001627	intron_variant	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.chr11:62444225C>A		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.844+59G>T	11.37:g.62444225C>A			Somatic				UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron	p.G302*	NM_015853.3	NP_056937.2	WXS	Illumina GAIIx	Phase_I	Q04323	UBXN1_HUMAN			8	1035	-			120					Q9BV93|Q9BVV5	Nonsense_Mutation	SNP	ENST00000301935.5	37	c.904G>T		.	.	.	.	.	.	.	.	.	.	C	10.91	1.483940	0.26598	.	.	ENSG00000162191	ENST00000294119	.	.	.	5.24	1.96	0.26148	.	1.876030	0.02425	N	0.082999	.	.	.	.	.	.	0.27523	N	0.951348	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1276	3.7957	0.08738	0.4213:0.4433:0.0:0.1354	.	.	.	.	X	302	.	ENSP00000294119:G302X	G	-	1	0	UBXN1	62200801	0.018000	0.18449	0.008000	0.14137	0.062000	0.15995	1.673000	0.37534	0.262000	0.21774	0.655000	0.94253	GGA		0.512	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		7	128	7	128	---	---	---	---	A	62444225	C	A	62444225	1	1	72	0	1	0	0	0	0	0	0	0	16908	690	24	1		1	UBXN1	11	62444225	Intron	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		62444225	72562291	95	3471										
ATL3	25923	broad.mit.edu	37	chr11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gctgaagacgttcttgctacCattgtgcttgcagaagttct	10	9	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.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		Somatic				ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S	p.G433S	NM_015459.3	NP_056274.3	WXS	Illumina GAIIx	Phase_I	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	5	95	---	---	---	---	T	63398754	C	T	63398754	3	4	72	1	0	0	0	0	1	0	0	0	1108	594	21	2	336	2	ATL3	11	63398754	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	954529	63398754	71607762	96	3472										
EIF1AD	84285	broad.mit.edu	37	chr11	65767617	65767617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cacctcatgcagattgttccCtggggtcctgagtacctggt	11	12	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.chr11:65767617C>A	ENST00000312234.2	-	3	437	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|BANF1_ENST00000533166.1_5'Flank|BANF1_ENST00000445560.2_5'Flank|BANF1_ENST00000527348.1_5'Flank|EIF1AD_ENST00000525767.1_De_novo_Start_OutOfFrame|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	35	S1-like. {ECO:0000255|PROSITE- ProRule:PRU00181}.					intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						AGATTGTTCCCTGGGGTCCTG	0.562																																						ENST00000525767.1																			0				lung(5)	5								eukaryotic translation initiation factor 1A domain containing							94	86	89					11																	65767617		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65767617C>A	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.103G>T	11.37:g.65767617C>A	ENSP00000309175:p.Gly35Trp		Somatic				EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000312234.2_Missense_Mutation_p.G35W|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W				WXS	Illumina GAIIx	Phase_I	Q8N9N8	EIF1A_HUMAN			0	137	-								B2R4N5|Q9BSC1	Translation_Start_Site	SNP	ENST00000312234.2	37		CCDS8124.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633289	0.87660	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000529964;ENST00000533544;ENST00000527249;ENST00000530462;ENST00000532707;ENST00000527051	T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.31	5.31	0.75309	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91900	0.5531	10	0.87932	D	0	.	16.4684	0.84092	0.0:1.0:0.0:0.0	.	35	Q8N9N8	EIF1A_HUMAN	W	35	ENSP00000436644:G35W;ENSP00000309175:G35W;ENSP00000435942:G35W;ENSP00000434056:G35W;ENSP00000435439:G35W;ENSP00000435891:G35W;ENSP00000433320:G35W;ENSP00000432135:G35W	ENSP00000309175:G35W	G	-	1	0	EIF1AD	65524193	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.637000	0.74304	2.488000	0.83962	0.561000	0.74099	GGG		0.562	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		6	78	6	78	---	---	---	---	A	65767617	C	A	65767617	3	1	72	1	0	0	0	0	1	0	0	0	4991	681	24	1	410	1	EIF1AD	11	65767617	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2368863	65767617	69238899	97	3473										
C11orf80	79703	broad.mit.edu	37	chr11	66571471	66571471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tctgttttctgacagtagacCaaattttggtacaattgaat	7	6	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.chr11:66571471C>A	ENST00000360962.4	+	9	855	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	283										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GACAGTAGACCAAATTTTGGT	0.358																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(847-849)cCa>cAa		chromosome 11 open reading frame 80							166	160	162					11																	66571471		1943	4128	6071	SO:0001583	missense	79703							g.chr11:66571471C>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.848C>A	11.37:g.66571471C>A	ENSP00000354227:p.Pro283Gln		Somatic				C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q	p.P283Q	NM_024650.3	NP_078926.3	WXS	Illumina GAIIx	Phase_I	Q8N6T0	CK080_HUMAN			9	855	+			128					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.848C>A	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.42|12.42	1.931977|1.931977	0.34096|0.34096	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000524551;ENST00000525908;ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000532089	T;T|.	0.32023|.	1.47;1.52|.	5.5|5.5	3.6|3.6	0.41247|0.41247	.|.	0.387908|.	0.22213|.	N|.	0.063076|.	T|T	0.26231|0.26231	0.0640|0.0640	L|L	0.27053|0.27053	0.805|0.805	0.22511|0.22511	N|N	0.999034|0.999034	B;B;P|.	0.37955|.	0.356;0.356;0.612|.	B;B;B|.	0.33750|.	0.104;0.104;0.169|.	T|T	0.19614|0.19614	-1.0300|-1.0300	10|5	0.51188|.	T|.	0.08|.	-0.1552|-0.1552	6.7513|6.7513	0.23489|0.23489	0.1754:0.7347:0.0:0.0899|0.1754:0.7347:0.0:0.0899	.|.	65;128;118|.	E9PKM2;Q8N6T0;E9PKZ8|.	.;CK080_HUMAN;.|.	Q|K	65;234;283;129;65;118;118;128|86	ENSP00000432039:P234Q;ENSP00000354227:P283Q|.	ENSP00000317408:P129Q|.	P|Q	+|+	2|1	0|0	C11orf80|C11orf80	66328047|66328047	0.307000|0.307000	0.24500|0.24500	0.611000|0.611000	0.29010|0.29010	0.819000|0.819000	0.46315|0.46315	1.366000|1.366000	0.34193|0.34193	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.358	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		8	214	8	214	---	---	---	---	A	66571471	C	A	66571471	3	1	72	1	0	0	0	0	1	0	0	0	1664	594	21	1	882	1	C11orf80	11	66571471	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	803854	66571471	68435045	98	3474										
SIK2	23235	broad.mit.edu	37	chr11	111594484	111594484	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagcttcagcccctgccctcCacttccggtccccgggctgc	9	21	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.chr11:111594484C>A	ENST00000304987.3	+	15	2585	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					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						CCCTGCCCTCCACTTCCGGTC	0.672																																						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.(2410-2412)tcC>tcA		salt-inducible kinase 2							124	134	131					11																	111594484		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.chr11:111594484C>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.2412C>A	11.37:g.111594484C>A			Somatic					p.S804S	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			15	2585	+			804					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2412C>A	CCDS8347.1																																																																																				0.672	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		7	234	7	234	---	---	---	---	A	111594484	C	A	111594484	2	1	72	1	0	0	0	0	0	0	0	1	14318	581	21	1		1	SIK2	11	111594484	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	45023013	111594484	23412032	99	3475										
HMBS	3145	broad.mit.edu	37	chr11	118960953	118960953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccagctgcagagaaagttccCgcatctggagttcaggagta	12	10	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.chr11:118960953C>A	ENST00000278715.3	+	8	627	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000537841.1_Missense_Mutation_p.P142Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	159					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)		AGAAAGTTCCCGCATCTGGAG	0.493																																						ENST00000537841.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(424-426)cCg>cAg		hydroxymethylbilane synthase							105	110	108					11																	118960953		2200	4295	6495	SO:0001583	missense	3145				peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118960953C>A	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.476C>A	11.37:g.118960953C>A	ENSP00000278715:p.Pro159Gln		Somatic				HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000278715.3_Missense_Mutation_p.P159Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q	p.P142Q			WXS	Illumina GAIIx	Phase_I	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	8	716	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	159					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.425C>A	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498819	0.85069	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D	0.99809	-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86	6.07	5.16	0.70880	Porphobilinogen deaminase, N-terminal (1);	0.045913	0.85682	D	0.000000	D	0.99843	0.9928	H	0.95712	3.71	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.993;0.999;0.997	D;D;D;D;D	0.83275	0.953;0.996;0.971;0.986;0.983	D	0.96623	0.9461	10	0.87932	D	0	-2.7923	14.2224	0.65836	0.0:0.9293:0.0:0.0707	.	142;142;141;159;159	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	Q	159;142;142;133;159;141;142;142;142;142	ENSP00000278715:P159Q;ENSP00000444730:P142Q;ENSP00000443058:P142Q;ENSP00000445599:P133Q;ENSP00000438424:P159Q;ENSP00000445429:P141Q;ENSP00000440092:P142Q;ENSP00000442079:P142Q;ENSP00000376584:P142Q;ENSP00000392041:P142Q	ENSP00000392041:P142Q	P	+	2	0	CTD-2589C9.4;HMBS	118466163	1.000000	0.71417	0.943000	0.38184	0.590000	0.36582	4.763000	0.62257	1.581000	0.49865	0.655000	0.94253	CCG		0.493	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		5	126	5	126	---	---	---	---	A	118960953	C	A	118960953	3	1	72	1	0	0	0	0	1	0	0	0	7219	652	23	1	506	1	HMBS	11	118960953	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7366469	118960953	16045563	100	3476										
HYLS1	219844	broad.mit.edu	37	chr11	125769839	125769839	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctgattgttgccagcagaccCaagtcctttattctcccaaa	6	13	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.chr11:125769839C>A	ENST00000425380.2	+	3	1357	c.576C>A	c.(574-576)ccC>ccA	p.P192P	HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	192						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)		CCAGCAGACCCAAGTCCTTTA	0.488																																					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.(574-576)ccC>ccA		hydrolethalus syndrome 1							76	78	78					11																	125769839		2201	4299	6500	SO:0001819	synonymous_variant	219844					centrosome|nucleus		g.chr11:125769839C>A	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.576C>A	11.37:g.125769839C>A			Somatic				HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	p.P192P	NM_001134793.1	NP_001128265.1	WXS	Illumina GAIIx	Phase_I	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1357	+	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)	192					B3KXI8|Q96BX9	Silent	SNP	ENST00000425380.2	37	c.576C>A	CCDS8467.1																																																																																				0.488	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		5	82	5	82	---	---	---	---	A	125769839	C	A	125769839	2	1	72	1	0	0	0	0	0	0	0	1	7469	581	21	1		1	HYLS1	11	125769839	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6808886	125769839	9236677	101	3477										
CHD4	1108	broad.mit.edu	37	chr12	6700934	6700934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctgcagcagcaataatttccCagatgctctgattagggcac	9	11	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.chr12:6700934C>A	ENST00000357008.2	-	21	3311	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000309577.6_Missense_Mutation_p.G1050W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1050					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						AATAATTTCCCAGATGCTCTG	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3148-3150)Ggg>Tgg		chromodomain helicase DNA binding protein 4							100	95	97					12																	6700934		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.chr12:6700934C>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.3148G>T	12.37:g.6700934C>A	ENSP00000349508:p.Gly1050Trp		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.G1050W|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W	p.G1050W			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			21	3311	-			1050					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3148G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554470	0.65425	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	H	0.99682	4.7	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	0.99308	1.0903	10	0.87932	D	0	.	18.6149	0.91299	0.0:1.0:0.0:0.0	.	1050;1050;1043	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1047;1043;1050;1050;1024	ENSP00000440392:G1047W;ENSP00000440542:G1043W;ENSP00000312419:G1050W;ENSP00000349508:G1050W	ENSP00000312419:G1050W	G	-	1	0	CHD4	6571195	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	7.792000	0.85828	2.402000	0.81655	0.655000	0.94253	GGG		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		5	84	5	84	---	---	---	---	A	6700934	C	A	6700934	3	1	72	1	0	0	0	0	1	0	0	0	3327	594	21	1	2670	1	CHD4	12	6700934	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		6700934	127150961	102	3478										
TPI1	7167	broad.mit.edu	37	chr12	6978334	6978334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agagagaaggcatgtctttgGggagtcagatgaggttagta	16	3	2	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.chr12:6978334G>T	ENST00000229270.4	+	3	759	c.422G>T	c.(421-423)gGg>gTg	p.G141V	TPI1_ENST00000396705.5_Missense_Mutation_p.G104V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000535434.1_Missense_Mutation_p.G22V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	141					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATGTCTTTGGGGAGTCAGAT	0.502											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(421-423)gGg>gTg		triosephosphate isomerase 1							174	178	177					12																	6978334		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6978334G>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.422G>T	12.37:g.6978334G>T	ENSP00000229270:p.Gly141Val		Somatic	OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000535434.1_Missense_Mutation_p.G22V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000396705.5_Missense_Mutation_p.G104V	p.G141V	NM_001159287.1	NP_001152759.1	WXS	Illumina GAIIx	Phase_I	P60174	TPIS_HUMAN			3	759	+			104					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.422G>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369013	0.82463	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.95069	-3.6;-3.6;-3.6	4.77	4.77	0.60923	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	D	0.97374	0.9141	H	0.99182	4.46	0.80722	D	1	P	0.40553	0.721	B	0.42319	0.383	D	0.99360	1.0917	10	0.87932	D	0	.	17.3971	0.87449	0.0:0.0:1.0:0.0	.	141	P60174	TPIS_HUMAN	V	141;104;22	ENSP00000229270:G141V;ENSP00000379933:G104V;ENSP00000443599:G22V	ENSP00000229270:G141V	G	+	2	0	TPI1	6848595	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.573000	0.98181	2.187000	0.69744	0.462000	0.41574	GGG		0.502	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		7	251	7	251	---	---	---	---	T	6978334	G	T	6978334	3	4	72	1	0	0	0	0	1	0	0	0	16400	1232	43	1	432	1	TPI1	12	6978334	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	277400	6978334	126873561	103	3479										
CLSTN3	9746	broad.mit.edu	37	chr12	7295773	7295773	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcccaggtccacgtgaacccCtcacagtccctgctcaccct	7	20	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.chr12:7295773C>A	ENST00000266546.6	+	12	2163	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	CLSTN3_ENST00000537408.1_Silent_p.P583P	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					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						ACGTGAACCCCTCACAGTCCC	0.622																																						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.(1747-1749)ccC>ccA		calsyntenin 3							98	90	93					12																	7295773		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295773C>A	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.1713C>A	12.37:g.7295773C>A			Somatic				CLSTN3_ENST00000266546.6_Silent_p.P571P	p.P583P			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			11	2287	+			571					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1749C>A	CCDS8575.1																																																																																				0.622	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	130	6	130	---	---	---	---	A	7295773	C	A	7295773	2	1	72	1	0	0	0	0	0	0	0	1	3563	668	24	1		1	CLSTN3	12	7295773	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	317439	7295773	126556122	104	3480										
PZP	5858	broad.mit.edu	37	chr12	9318703	9318703	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aaaatagcttcgcaccgtttCagggactggccctgaacttt	9	11	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.chr12:9318703C>A	ENST00000261336.2	-	18	2231	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	735	Bait region.				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						CGCACCGTTTCAGGGACTGGC	0.438																																					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.(2203-2205)Gaa>Taa		pregnancy-zone protein							140	132	134					12																	9318703		2203	4300	6503	SO:0001587	stop_gained	5858							g.chr12:9318703C>A	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.2203G>T	12.37:g.9318703C>A	ENSP00000261336:p.Glu735*		Somatic				PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	p.E735*	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					18	2231	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	ENST00000261336.2	37	c.2203G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719636	0.96839	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.58	1.71	0.24356	.	0.580119	0.12253	U	0.485481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.0428	0.19744	0.0:0.6379:0.0:0.3621	.	.	.	.	X	735;604	.	ENSP00000261336:E735X	E	-	1	0	PZP	9209970	0.998000	0.40836	0.014000	0.15608	0.377000	0.30045	1.496000	0.35638	0.292000	0.22492	0.467000	0.42956	GAA		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		5	132	5	132	---	---	---	---	A	9318703	C	A	9318703	4	1	72	1	0	0	0	0	0	1	0	0	12869	835	29	3	2321	3	PZP	12	9318703	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2022930	9318703	124533192	105	3481										
AMIGO2	91523	broad.mit.edu	37	chr12	47471282	47471282	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgaatctgagtcagatttccCcctcgtggactttaggatgc	10	10	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.chr12:47471282C>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000266581.4_Missense_Mutation_p.G502W|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TCAGATTTCCCCCTCGTGGAC	0.458																																						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.(1504-1506)Ggg>Tgg		adhesion molecule with Ig-like domain 2							70	67	68					12																	47471282		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471282C>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.47471282C>A	Exception_encountered		Somatic				AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W	p.G502W	NM_181847.4	NP_862830.1	WXS	Illumina GAIIx	Phase_I	Q86SJ2	AMGO2_HUMAN			2	1970	-	Renal(347;0.138)|Lung SC(27;0.192)		502					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1504G>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061576	0.36373	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.09	5.09	0.68999	.	0.612070	0.16317	N	0.219754	T	0.27663	0.0680	N	0.14661	0.345	0.25009	N	0.991412	P	0.39831	0.69	B	0.35971	0.215	T	0.14699	-1.0463	10	0.66056	D	0.02	-1.2108	6.7838	0.23662	0.1798:0.726:0.0:0.0942	.	502	Q86SJ2	AMGO2_HUMAN	W	502	ENSP00000266581:G502W;ENSP00000449034:G502W;ENSP00000406020:G502W;ENSP00000320848:G502W	ENSP00000266581:G502W	G	-	1	0	AMIGO2	45757549	0.998000	0.40836	0.685000	0.30070	0.994000	0.84299	1.695000	0.37763	2.745000	0.94114	0.561000	0.74099	GGG		0.458	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		4	30	4	30	---	---	---	---	A	47471282	C	A	47471282	1	1	72	0	1	0	0	0	0	0	0	0	576	623	22	1		1	AMIGO2	12	47471282	5'Flank	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	38152579	47471282	86380613	106	3482										
OR6C4	341418	broad.mit.edu	37	chr12	55945169	55945169	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	accttactagacccccacctCcagacccccatgtatttctt	3	18	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.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			Somatic				RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.L53L	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	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	32	141	---	---	---	---	G	55945169	C	G	55945169	2	3	72	1	0	0	0	0	0	0	0	1	11193	842	30	4		4	OR6C4	12	55945169	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8473887	55945169	77906726	107	3483										
ITGA7	3679	broad.mit.edu	37	chr12	56088619	56088619	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gagtcaggaagcatgaccagGagctgggcttcatgggcatc	15	9	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.chr12:56088619G>T	ENST00000555728.1	-	16	2299	c.2271C>A	c.(2269-2271)ctC>ctA	p.L757L	ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000257880.7_Silent_p.L757L|ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L			Q13683	ITA7_HUMAN	integrin, alpha 7	757					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						GCATGACCAGGAGCTGGGCTT	0.657																																						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.(2269-2271)ctC>ctA		integrin, alpha 7							64	60	61					12																	56088619		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.chr12:56088619G>T		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.2271C>A	12.37:g.56088619G>T			Somatic				ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L|ITGA7_ENST00000555728.1_Silent_p.L757L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L	p.L757L			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			16	2490	-			757					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2271C>A																																																																																					0.657	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		4	50	4	50	---	---	---	---	T	56088619	G	T	56088619	2	4	72	1	0	0	0	0	0	0	0	1	7881	1161	41	3		3	ITGA7	12	56088619	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	143450	56088619	77763276	108	3484										
HELB	92797	broad.mit.edu	37	chr12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcctacacagaatggtcaggAagagttgttcctagacaatg	11	8	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.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		Somatic					p.E187G	NM_033647.3	NP_387467.2	WXS	Illumina GAIIx	Phase_I	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	10	72	---	---	---	---	G	66698883	A	G	66698883	3	3	72	1	0	0	0	0	1	0	0	0	7045	246	9	2	566	2	HELB	12	66698883	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	10610264	66698883	67153012	109	3485										
C12orf63	144535	broad.mit.edu	37	chr12	97051751	97051751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tagtcttacctttgagcatcCtttggatgatgtaaatgtgg	10	6	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.chr12:97051751C>A	ENST00000524981.4	+	37	5215	c.5192C>A	c.(5191-5193)cCt>cAt	p.P1731H				Q96N23	CL055_HUMAN		0																	TTTGAGCATCCTTTGGATGAT	0.358																																						ENST00000524981.4																			0											c.(5191-5193)cCt>cAt		chromosome 12 open reading frame 55							145	151	149					12																	97051751		2203	4300	6503	SO:0001583	missense	144535							g.chr12:97051751C>A																												ENST00000524981.4:c.5192C>A	12.37:g.97051751C>A	ENSP00000431759:p.Pro1731His		Somatic					p.P1731H			WXS	Illumina GAIIx	Phase_I					37	5215	+									Missense_Mutation	SNP	ENST00000524981.4	37	c.5192C>A		.	.	.	.	.	.	.	.	.	.	C	16.87	3.241755	0.58995	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	4.14	0.48551	.	0.000000	0.64402	D	0.000020	T	0.49133	0.1539	L	0.47716	1.5	0.37576	D	0.919615	P	0.37176	0.586	B	0.32583	0.148	T	0.56135	-0.8029	9	0.39692	T	0.17	-16.2877	15.1529	0.72717	0.1424:0.8576:0.0:0.0	.	156	Q6ZTY8	CL063_HUMAN	H	1731;156	.	ENSP00000345466:P156H	P	+	2	0	C12orf63	95575882	0.989000	0.36119	1.000000	0.80357	0.959000	0.62525	1.521000	0.35910	1.237000	0.43756	0.462000	0.41574	CCT		0.358	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			6	159	6	159	---	---	---	---	A	97051751	C	A	97051751	3	1	72	1	0	0	0	0	1	0	0	0	1706	681	24	1	477	1	C12orf63	12	97051751	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	30352868	97051751	36800144	110	3486										
STAB2	55576	broad.mit.edu	37	chr12	104071351	104071351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgcccagtgcaggcggctgcCacgacaacgcatcctgtttg	12	14	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.chr12:104071351C>A	ENST00000388887.2	+	25	2971	c.2767C>A	c.(2767-2769)Cac>Aac	p.H923N		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						AGGCGGCTGCCACGACAACGC	0.582																																						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.(2767-2769)Cac>Aac		stabilin 2							79	80	80					12																	104071351		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.chr12:104071351C>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.2767C>A	12.37:g.104071351C>A	ENSP00000373539:p.His923Asn		Somatic					p.H923N	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			25	2971	+			923			EGF-like 9.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2767C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889292	0.52014	.	.	ENSG00000136011	ENST00000388887	T	0.67523	-0.27	5.55	5.55	0.83447	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.81614	2.55	0.42359	D	0.992401	D	0.69078	0.997	D	0.77004	0.989	T	0.80924	-0.1165	10	0.32370	T	0.25	.	18.2638	0.90044	0.0:1.0:0.0:0.0	.	923	Q8WWQ8	STAB2_HUMAN	N	923	ENSP00000373539:H923N	ENSP00000373539:H923N	H	+	1	0	STAB2	102595481	1.000000	0.71417	0.992000	0.48379	0.105000	0.19272	5.217000	0.65252	2.623000	0.88846	0.563000	0.77884	CAC		0.582	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	120	5	120	---	---	---	---	A	104071351	C	A	104071351	3	1	72	1	0	0	0	0	1	0	0	0	15237	594	21	1	2865	1	STAB2	12	104071351	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7019600	104071351	29780544	111	3487										
ANKLE2	23141	broad.mit.edu	37	chr12	133311997	133311997	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcagcctttcagtaccttccCactctctcaaagcctctttc	3	17	5	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.chr12:133311997C>A	ENST00000357997.5	-	9	1784	c.1695G>T	c.(1693-1695)gtG>gtT	p.V565V	ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.V503V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	565					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)		AGTACCTTCCCACTCTCTCAA	0.493																																						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.(1507-1509)gtG>gtT		ankyrin repeat and LEM domain containing 2							114	123	120					12																	133311997		2096	4230	6326	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133311997C>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.1695G>T	12.37:g.133311997C>A			Somatic				ANKLE2_ENST00000357997.5_Silent_p.V565V|ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR	p.V503V			WXS	Illumina GAIIx	Phase_I	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	8	8193	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	565					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.1509G>T	CCDS41869.1																																																																																				0.493	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			6	124	6	124	---	---	---	---	A	133311997	C	A	133311997	2	1	72	1	0	0	0	0	0	0	0	1	633	581	21	1		1	ANKLE2	12	133311997	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	29240646	133311997	539898	112	3488										
TNFRSF19	55504	broad.mit.edu	37	chr13	24234605	24234605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	acagagcctgctgccagtgcCgccgtgactcagtgcagacc	12	15	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.chr13:24234605C>A	ENST00000382258.4	+	7	916	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.R238S	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	238					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)		CTGCCAGTGCCGCCGTGACTC	0.557																																						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.(712-714)Cgc>Agc		tumor necrosis factor receptor superfamily, member 19							59	48	52					13																	24234605		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24234605C>A	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.712C>A	13.37:g.24234605C>A	ENSP00000371693:p.Arg238Ser		Somatic				TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.R238S	p.R238S	NM_001204458.1	NP_001191387.1	WXS	Illumina GAIIx	Phase_I	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)	7	896	+		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)	238					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.712C>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896333	0.33442	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.33	5.33	0.75918	.	0.674216	0.16513	N	0.211160	T	0.16257	0.0391	N	0.14661	0.345	0.34191	D	0.672038	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.22753	0.041;0.033;0.033	T	0.14755	-1.0461	10	0.34782	T	0.22	-5.5292	19.384	0.94550	0.0:1.0:0.0:0.0	.	106;238;238	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	S	238;106;238;238	ENSP00000248484:R238S;ENSP00000385408:R106S;ENSP00000371693:R238S;ENSP00000371698:R238S	ENSP00000248484:R238S	R	+	1	0	TNFRSF19	23132605	0.677000	0.27577	0.475000	0.27278	0.127000	0.20565	4.308000	0.59129	2.653000	0.90120	0.650000	0.86243	CGC		0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		3	20	3	20	---	---	---	---	A	24234605	C	A	24234605	3	1	72	1	0	0	0	0	1	0	0	0	16289	652	23	1	734	1	TNFRSF19	13	24234605	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		24234605	90935273	113	3489										
ZC3H13	23091	broad.mit.edu	37	chr13	46559748	46559748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tctctggagtctcttagttcCcttcggtccctagtatctct	7	13	3	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.chr13:46559748C>A	ENST00000242848.4	-	10	1752	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	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)		CTCTTAGTTCCCTTCGGTCCC	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.(1402-1404)agG>agT		zinc finger CCCH-type containing 13							210	201	204					13																	46559748		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559748C>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.1404G>T	13.37:g.46559748C>A	ENSP00000242848:p.Arg468Ser		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S	p.R468S			WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1752	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	468			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1404G>T		.	.	.	.	.	.	.	.	.	.	C	14.69	2.609367	0.46527	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.35605	2.26;1.3	5.82	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.25044	0.0608	N	0.20986	0.625	0.80722	D	1	B;P	0.36837	0.435;0.571	B;B	0.30855	0.057;0.121	T	0.04900	-1.0919	10	0.49607	T	0.09	.	15.1013	0.72279	0.0:0.932:0.0:0.068	.	468;468	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	S	468;468;284	ENSP00000242848:R468S;ENSP00000282007:R468S	ENSP00000242848:R468S	R	-	3	2	ZC3H13	45457749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.434000	0.52841	1.464000	0.47987	0.655000	0.94253	AGG		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		6	148	6	148	---	---	---	---	A	46559748	C	A	46559748	3	1	72	1	0	0	0	0	1	0	0	0	17562	622	22	1	3322	1	ZC3H13	13	46559748	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	22325143	46559748	68610130	114	3490										
DIS3	22894	broad.mit.edu	37	chr13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ttaagcttacatttggatatCtggaatttctgggccaacca	8	8	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.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000545453.1_Missense_Mutation_p.R248K|DIS3_ENST00000377780.4_Missense_Mutation_p.R380K	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)	Somatic				DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	p.R410K	NM_014953.3	NP_055768.3	WXS	Illumina GAIIx	Phase_I	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	10	42	---	---	---	---	T	73347832	C	T	73347832	3	4	72	1	0	0	0	0	1	0	0	0	4535	913	32	2	1703	2	DIS3	13	73347832	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	26788084	73347832	41822046	115	3491										
TSSK4	283629	broad.mit.edu	37	chr14	24676531	24676531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cagctttgcttacgcttgccCagagatcttacgaggcttgc	10	12	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.chr14:24676531C>A	ENST00000287913.6	+	3	788	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.P217Q|CHMP4A_ENST00000542700.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACGCTTGCCCAGAGATCTTA	0.537																																						ENST00000339917.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(649-651)cCa>cAa		testis-specific serine kinase 4							187	148	161					14																	24676531		2203	4300	6503	SO:0001583	missense	283629				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:24676531C>A	AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"chromosome 14 open reading frame 20"	610711	"serine/threonine kinase 22E"	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.620C>A	14.37:g.24676531C>A	ENSP00000287913:p.Pro207Gln		Somatic				TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.P207Q|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron	p.P217Q	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	WXS	Illumina GAIIx	Phase_I	Q6SA08	TSSK4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	854	+			207			Protein kinase.		Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	c.650C>A	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.747606|3.747606	0.69533|0.69533	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913|ENST00000553766	T;T;T|.	0.75367|.	-0.93;-0.93;-0.93|.	5.25|5.25	5.25|5.25	0.73442|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);|.	0.112974|.	0.40554|.	N|.	0.001076|.	D|D	0.87410|0.87410	0.6170|0.6170	H|H	0.96398|0.96398	3.815|3.815	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;0.999|.	D|D	0.90894|0.90894	0.4763|0.4763	10|5	0.87932|.	D|.	0|.	.|.	15.8589|15.8589	0.79008|0.79008	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217;207;137|.	Q6SA08-2;Q6SA08;Q8IZN1|.	.;TSSK4_HUMAN;.|.	Q|K	217;131;207|24	ENSP00000339179:P217Q;ENSP00000452054:P131Q;ENSP00000287913:P207Q|.	ENSP00000287913:P207Q|.	P|Q	+|+	2|1	0|0	TSSK4|TSSK4	23746371|23746371	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.959000|0.959000	0.62525|0.62525	6.253000|6.253000	0.72453|0.72453	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.537	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944		5	136	5	136	---	---	---	---	A	24676531	C	A	24676531	3	1	72	1	0	0	0	0	1	0	0	0	16668	594	21	1	660	1	TSSK4	14	24676531	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		24676531	82673009	116	3492										
KIAA0284	283638	broad.mit.edu	37	chr14	105361070	105361070	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atcaatgccatcgtggacccCagtgggagcctggacctgct	12	13	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.chr14:105361070C>A	ENST00000414716.3	+	19	4668	c.4440C>A	c.(4438-4440)ccC>ccA	p.P1480P	CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000453495.1_Silent_p.P1516P|CEP170B_ENST00000556508.1_Silent_p.P1445P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1515						cytoplasm (GO:0005737)|microtubule (GO:0005874)											TCGTGGACCCCAGTGGGAGCC	0.657																																						ENST00000453495.1																			0											c.(4546-4548)ccC>ccA		centrosomal protein 170B							52	59	57					14																	105361070		2030	4189	6219	SO:0001819	synonymous_variant	283638							g.chr14:105361070C>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.4440C>A	14.37:g.105361070C>A			Somatic				CEP170B_ENST00000414716.3_Silent_p.P1480P|CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000556508.1_Silent_p.P1445P	p.P1516P			WXS	Illumina GAIIx	Phase_I					19	4776	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4548C>A	CCDS45175.1																																																																																				0.657	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		5	76	5	76	---	---	---	---	A	105361070	C	A	105361070	2	1	72	1	0	0	0	0	0	0	0	1	8166	581	21	1		1	KIAA0284	14	105361070	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	80684539	105361070	1988470	117	3493										
AHNAK2	113146	broad.mit.edu	37	chr14	105418916	105418916	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	catgctgggcagagacacctCgccatcgggggctgtcactt	13	13	1	1	rs370824335		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.chr14:105418916C>A	ENST00000333244.5	-	7	2991	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	958						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)			AGAGACACCTCGCCATCGGGG	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2872-2874)Gag>Tag		AHNAK nucleoprotein 2							152	177	169					14																	105418916		1992	4152	6144	SO:0001587	stop_gained	113146					nucleus		g.chr14:105418916C>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.2872G>T	14.37:g.105418916C>A	ENSP00000353114:p.Glu958*		Somatic				AHNAK2_ENST00000557457.1_Intron	p.E958*	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	2991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	958					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.2872G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	38	7.159623	0.98103	.	.	ENSG00000185567	ENST00000333244	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.0193	0.14352	0.0:0.6534:0.2198:0.1268	.	.	.	.	X	958	.	ENSP00000353114:E958X	E	-	1	0	AHNAK2	104489961	0.028000	0.19301	0.002000	0.10522	0.004000	0.04260	1.031000	0.30165	1.350000	0.45770	0.313000	0.20887	GAG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	342	7	342	---	---	---	---	A	105418916	C	A	105418916	4	1	72	1	0	0	0	0	0	1	0	0	415	893	31	3	14519	3	AHNAK2	14	105418916	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	57846	105418916	1930624	118	3494										
MAPKBP1	23005	broad.mit.edu	37	chr15	42110410	42110410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aggtgcagacagacccctcaGggatctacattgccaccagc	10	14	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.chr15:42110410G>T	ENST00000456763.2	+	19	2213	c.2017G>T	c.(2017-2019)Ggg>Tgg	p.G673W	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G667W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	673										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)		AGACCCCTCAGGGATCTACAT	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.(1999-2001)Ggg>Tgg		mitogen-activated protein kinase binding protein 1							110	94	100					15																	42110410		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42110410G>T	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.2017G>T	15.37:g.42110410G>T	ENSP00000393099:p.Gly673Trp		Somatic				MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G673W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W	p.G667W	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	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)	18	2285	+		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)	673					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1999G>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.723245	0.89298	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.74002	1.0;1.0;0.26;-0.8;0.26	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	0.85682	D	0.000000	D	0.89911	0.6852	M	0.92077	3.27	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	0.97110	1.0;0.996;1.0;1.0;0.998	D	0.92146	0.5724	10	0.87932	D	0	-20.5754	19.1091	0.93310	0.0:0.0:1.0:0.0	.	506;550;667;673;667	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	W	667;550;506;673;667	ENSP00000397570:G667W;ENSP00000221214:G550W;ENSP00000260357:G506W;ENSP00000393099:G673W;ENSP00000426154:G667W	ENSP00000221214:G550W	G	+	1	0	MAPKBP1	39897702	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	9.866000	0.99616	2.505000	0.84491	0.462000	0.41574	GGG		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	75	5	75	---	---	---	---	T	42110410	G	T	42110410	3	4	72	1	0	0	0	0	1	0	0	0	9292	1000	35	1	2087	1	MAPKBP1	15	42110410	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		42110410	60420982	119	3495										
DUOXA1	405753	broad.mit.edu	37	chr15	45409938	45409938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cctgtgcctcttcctcggagGggccgtggtgagtctccagt	14	13	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.chr15:45409938G>T	ENST00000323030.5	+	6	1079	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Silent_p.P409P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	265					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCCTCGGAGGGGCCGTGGTG	0.622																																						ENST00000323030.5																			0											c.(793-795)gGg>gTg		dual oxidase maturation factor 2							68	67	67					15																	45409938		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45409938G>T	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.794G>T	15.37:g.45409938G>T	ENSP00000319705:p.Gly265Val		Somatic				DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000267803.4_Silent_p.P409P	p.G265V	NM_207581.3	NP_997464.2	WXS	Illumina GAIIx	Phase_I	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1079	+		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)	265					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.794G>T	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	7.049	0.564096	0.13498	.	.	ENSG00000140274	ENST00000323030	T	0.48836	0.8	5.46	-0.0258	0.13933	.	0.847741	0.10969	N	0.614022	T	0.25082	0.0609	N	0.16602	0.42	0.19575	N	0.999969	B	0.14438	0.01	B	0.17722	0.019	T	0.28396	-1.0045	10	0.05721	T	0.95	.	8.3085	0.32058	0.0:0.2555:0.3194:0.4251	.	265	Q1HG44	DOXA2_HUMAN	V	265	ENSP00000319705:G265V	ENSP00000319705:G265V	G	+	2	0	DUOXA2	43197230	0.005000	0.15991	0.004000	0.12327	0.707000	0.40811	-0.326000	0.07965	-0.260000	0.09418	0.561000	0.74099	GGG		0.622	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		6	104	6	104	---	---	---	---	T	45409938	G	T	45409938	3	4	72	1	0	0	0	0	1	0	0	0	4802	1232	43	1	228	1	DUOXA1	15	45409938	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	3299528	45409938	57121454	120	3496										
WDR72	256764	broad.mit.edu	37	chr15	53992138	53992138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agcaaattatctgctcacccCttagctgtgaaaaaacaaca	5	11	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.chr15:53992138C>A	ENST00000396328.1	-	13	1813	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M	WDR72_ENST00000557913.1_Missense_Mutation_p.R522M|WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	525										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)		CTGCTCACCCCTTAGCTGTGA	0.413																																						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.(1573-1575)aGg>aTg		WD repeat domain 72							85	89	87					15																	53992138		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53992138C>A	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.1574G>T	15.37:g.53992138C>A	ENSP00000379619:p.Arg525Met		Somatic				WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M|WDR72_ENST00000557913.1_Missense_Mutation_p.R522M	p.R525M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	WXS	Illumina GAIIx	Phase_I	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1813	-			525					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1574G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430521	0.43122	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39787	1.06;1.06	5.57	3.31	0.37934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.305933	0.32488	N	0.006022	T	0.31167	0.0788	L	0.49778	1.585	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29058	-1.0024	10	0.66056	D	0.02	.	2.5451	0.04735	0.269:0.5127:0.0:0.2182	.	525	Q3MJ13	WDR72_HUMAN	M	525	ENSP00000379619:R525M;ENSP00000353699:R525M	ENSP00000353699:R525M	R	-	2	0	WDR72	51779430	0.074000	0.21230	0.089000	0.20774	0.553000	0.35397	1.521000	0.35910	1.490000	0.48466	-0.152000	0.13540	AGG		0.413	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		5	103	5	103	---	---	---	---	A	53992138	C	A	53992138	3	1	72	1	0	0	0	0	1	0	0	0	17319	681	24	1	1766	1	WDR72	15	53992138	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	8582200	53992138	48539254	121	3497										
HERC1	8925	broad.mit.edu	37	chr15	63928257	63928257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	taccatagtcaccatctcccCagctaaagacctcaccactt	3	17	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.chr15:63928257C>A	ENST00000443617.2	-	65	12404	c.12317G>T	c.(12316-12318)tGg>tTg	p.W4106L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4106					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						ACCATCTCCCCAGCTAAAGAC	0.552																																						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.(12316-12318)tGg>tTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							201	201	201					15																	63928257		2050	4199	6249	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63928257C>A	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.12317G>T	15.37:g.63928257C>A	ENSP00000390158:p.Trp4106Leu		Somatic					p.W4106L	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			65	12404	-			4106					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12317G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287588	0.95517	.	.	ENSG00000103657	ENST00000443617	D	0.92199	-2.99	5.58	5.58	0.84498	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96576	3.845	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.98448	1.0590	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	4106	Q15751	HERC1_HUMAN	L	4106	ENSP00000390158:W4106L	ENSP00000390158:W4106L	W	-	2	0	HERC1	61715310	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	TGG		0.552	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	288	6	288	---	---	---	---	A	63928257	C	A	63928257	3	1	72	1	0	0	0	0	1	0	0	0	7057	595	21	1	2324	1	HERC1	15	63928257	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	9936119	63928257	38603135	122	3498										
RBPMS2	348093	broad.mit.edu	37	chr15	65041350	65041350	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcgggatcaaagcgaataccCtacatgggtagagaaaagaa	11	7	1	2	rs113425903		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.chr15:65041350C>A	ENST00000300069.4	-	5	535		c.e5-1		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						AGCGAATACCCTACATGGGTA	0.498																																						ENST00000300069.4																			0				breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						c.e5-1		RNA binding protein with multiple splicing 2							124	117	119					15																	65041350		2202	4299	6501	SO:0001630	splice_region_variant	348093						nucleic acid binding|nucleotide binding	g.chr15:65041350C>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.268-1G>T	15.37:g.65041350C>A			Somatic				RBPMS2_ENST00000560606.1_Splice_Site		NM_194272.1	NP_919248.1	WXS	Illumina GAIIx	Phase_I	Q6ZRY4	RBPS2_HUMAN			5	535	-								A2RRG0	Splice_Site	SNP	ENST00000300069.4	37		CCDS32271.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153513	0.38021	.	.	ENSG00000166831	ENST00000300069	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1468	0.86768	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBPMS2	62828403	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	7.800000	0.85949	2.454000	0.82982	0.462000	0.41574	.		0.498	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418466.1		Intron	5	117	5	117	---	---	---	---	A	65041350	C	A	65041350	5	1	72	1	0	0	0	0	0	0	1	0	13164	695	24	1	374	1	RBPMS2	15	65041350	Splice_Site	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1113093	65041350	37490042	123	3499										
ADPGK	83440	broad.mit.edu	37	chr15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtggaaatggatcctggtgaGatccgaggctctgcttttac	13	8	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.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F|ADPGK_ENST00000567733.1_5'Flank	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		Somatic				ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	p.L375F	NM_031284.4	NP_112574.3	WXS	Illumina GAIIx	Phase_I	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	11	57	---	---	---	---	A	73045050	G	A	73045050	3	1	72	1	0	0	0	0	1	0	0	0	330	942	33	2	371	2	ADPGK	15	73045050	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	8003700	73045050	29486342	124	3500										
LOXL1	4016	broad.mit.edu	37	chr15	74235269	74235269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agagagcccacctgtactccCtgcgctgtgctgcggaggag	14	13	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.chr15:74235269C>A	ENST00000261921.7	+	2	1503	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	393	Lysyl-oxidase like.				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)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTGTACTCCCTGCGCTGTGC	0.592																																						ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1177-1179)Ctg>Atg		lysyl oxidase-like 1							182	170	174					15																	74235269		2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74235269C>A	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.1177C>A	15.37:g.74235269C>A	ENSP00000261921:p.Leu393Met		Somatic					p.L393M	NM_005576.2	NP_005567.2	WXS	Illumina GAIIx	Phase_I	Q08397	LOXL1_HUMAN			2	1503	+			393			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1177C>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032065	0.54790	.	.	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.46451	0.87	3.91	-0.179	0.13299	.	0.000000	0.64402	D	0.000005	T	0.61110	0.2321	M	0.84433	2.695	0.49687	D	0.999811	D	0.89917	1.0	D	0.91635	0.999	T	0.61093	-0.7132	10	0.87932	D	0	.	7.5261	0.27656	0.0:0.5644:0.0:0.4356	.	393	Q08397	LOXL1_HUMAN	M	393;255	ENSP00000261921:L393M	ENSP00000261921:L393M	L	+	1	2	LOXL1	72022322	0.510000	0.26171	0.987000	0.45799	0.985000	0.73830	1.480000	0.35464	0.084000	0.17077	-0.254000	0.11334	CTG		0.592	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		6	149	6	149	---	---	---	---	A	74235269	C	A	74235269	3	1	72	1	0	0	0	0	1	0	0	0	8899	680	24	1	1183	1	LOXL1	15	74235269	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1190219	74235269	28296123	125	3501										
MAN2A2	4122	broad.mit.edu	37	chr15	91461494	91461494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctccatgtacctgaacgcccCggcgctcgctctgcctgtag	10	17	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.chr15:91461494C>A	ENST00000559717.1	+	21	3524	c.3065C>A	c.(3064-3066)cCg>cAg	p.P1022Q	MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.P1022Q			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1022					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)			CTGAACGCCCCGGCGCTCGCT	0.592																																						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.(3064-3066)cCg>cAg		mannosidase, alpha, class 2A, member 2							129	119	122					15																	91461494		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.chr15:91461494C>A	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.3065C>A	15.37:g.91461494C>A	ENSP00000452948:p.Pro1022Gln		Somatic				MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022Q|MAN2A2_ENST00000558538.1_3'UTR	p.P1022Q	NM_006122.2	NP_006113.2	WXS	Illumina GAIIx	Phase_I	P49641	MA2A2_HUMAN	Lung(145;0.229)		20	3083	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		1022					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.3065C>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564547	0.27915	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.94931	-3.56;-3.56;-3.56	5.58	4.67	0.58626	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.224074	0.45361	D	0.000365	D	0.96116	0.8734	M	0.73217	2.22	0.35458	D	0.796268	D;D;D	0.65815	0.995;0.995;0.976	D;D;P	0.68621	0.944;0.959;0.908	D	0.97938	1.0324	10	0.56958	D	0.05	-18.6596	9.962	0.41701	0.1677:0.7587:0.0:0.0736	.	530;650;1022	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	Q	1022;530;212	ENSP00000353655:P1022Q;ENSP00000388221:P530Q;ENSP00000394372:P212Q	ENSP00000353655:P1022Q	P	+	2	0	MAN2A2	89262498	0.118000	0.22208	0.141000	0.22245	0.011000	0.07611	1.430000	0.34914	1.525000	0.49052	-0.222000	0.12452	CCG		0.592	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		5	111	5	111	---	---	---	---	A	91461494	C	A	91461494	3	1	72	1	0	0	0	0	1	0	0	0	9215	652	23	1	3143	1	MAN2A2	15	91461494	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	17226225	91461494	11069898	126	3502										
TMEM8A	58986	broad.mit.edu	37	chr16	426140	426140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgcagacagcaggtaccttgTtggcccgcagggagatggtg	16	9	0	2	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_ENST00000250930.3_Missense_Mutation_p.N214S|TMEM8A_ENST00000476735.1_5'Flank	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		Somatic				TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	p.N407S	NM_021259.2	NP_067082.2	WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	C	426140	T	C	426140	3	2	72	1	0	0	0	0	1	0	0	0	16211	1725	60	2	1127	2	TMEM8A	16	426140	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08		426140	89928613	127	3503										
C16orf59	80178	broad.mit.edu	37	chr16	2511086	2511086	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccaagggccaccctgagcgcCggctgctgtcagtgggggat	16	13	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.chr16:2511086C>A	ENST00000361837.4	+	4	531	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCTGAGCGCCGGCTGCTGTC	0.697																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(466-468)Cgg>Agg		chromosome 16 open reading frame 59							27	32	30					16																	2511086		1962	4137	6099	SO:0001819	synonymous_variant	80178							g.chr16:2511086C>A	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.466C>A	16.37:g.2511086C>A			Somatic				C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R	p.R156R			WXS	Illumina GAIIx	Phase_I	Q7L2K0	CP059_HUMAN			4	525	+		Ovarian(90;0.17)	156					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.466C>A	CCDS10468.2																																																																																				0.697	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		4	56	4	56	---	---	---	---	A	2511086	C	A	2511086	2	1	72	1	0	0	0	0	0	0	0	1	1823	643	23	1		1	C16orf59	16	2511086	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2084946	2511086	87843667	128	3504										
ADCY9	115	broad.mit.edu	37	chr16	4163968	4163968	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atgccgcaaaggacggtgccCgtgtgcaccccgactctcat	11	15	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.chr16:4163968C>A	ENST00000294016.3	-	2	2014	c.1476G>T	c.(1474-1476)acG>acT	p.T492T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	492	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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						GGACGGTGCCCGTGTGCACCC	0.567																																						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.(1474-1476)acG>acT		adenylate cyclase 9							115	121	119					16																	4163968		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.chr16:4163968C>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.1476G>T	16.37:g.4163968C>A			Somatic					p.T492T	NM_001116.3	NP_001107.2	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			2	2014	-			492			Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1476G>T	CCDS32382.1																																																																																				0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	208	7	208	---	---	---	---	A	4163968	C	A	4163968	2	1	72	1	0	0	0	0	0	0	0	1	301	639	23	1		1	ADCY9	16	4163968	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1652882	4163968	86190785	129	3505										
CIITA	4261	broad.mit.edu	37	chr16	11012370	11012370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tgccttcgctcgctgcatccCtgctcaggctaaggtgagtg	12	13	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.chr16:11012370C>A	ENST00000324288.8	+	16	3269	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1046					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						CGCTGCATCCCTGCTCAGGCT	0.657			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(3136-3138)Ctg>Atg		class II, major histocompatibility complex, transactivator							129	125	126					16																	11012370		2197	4300	6497	SO:0001583	missense	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.chr16:11012370C>A	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.3136C>A	16.37:g.11012370C>A	ENSP00000316328:p.Leu1046Met		Somatic	OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	669	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	p.L1046M	NM_000246.3	NP_000237	WXS	Illumina GAIIx	Phase_I	P33076	C2TA_HUMAN			16	3269	+			1046					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.3136C>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844138	0.51164	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.79454	-0.89;-1.27	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000071	D	0.87908	0.6296	M	0.87971	2.92	0.34871	D	0.743617	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.984	D	0.91816	0.5463	10	0.62326	D	0.03	.	9.5985	0.39589	0.0:0.9038:0.0:0.0962	.	462;1046;1046	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	M	1046;462	ENSP00000316328:L1046M;ENSP00000371257:L462M	ENSP00000316328:L1046M	L	+	1	2	CIITA	10919871	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	2.527000	0.45615	2.327000	0.79052	0.561000	0.74099	CTG		0.657	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		9	209	9	209	---	---	---	---	A	11012370	C	A	11012370	3	1	72	1	0	0	0	0	1	0	0	0	3428	680	24	1	3198	1	CIITA	16	11012370	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6848402	11012370	79342383	130	3506										
ACSM1	116285	broad.mit.edu	37	chr16	20682907	20682907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gggagtgttttgccatcttgGggaagcctgtggtcccactg	15	9	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.chr16:20682907G>T	ENST00000307493.4	-	4	765	c.698C>A	c.(697-699)cCc>cAc	p.P233H	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	233					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGCCATCTTGGGGAAGCCTGT	0.542																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(697-699)cCc>cAc		acyl-CoA synthetase medium-chain family member 1							121	100	107					16																	20682907		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20682907G>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.698C>A	16.37:g.20682907G>T	ENSP00000301956:p.Pro233His		Somatic				ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H|ACSM1_ENST00000219151.4_5'UTR	p.P233H	NM_052956.2	NP_443188.2	WXS	Illumina GAIIx	Phase_I	Q08AH1	ACSM1_HUMAN			4	765	-			233					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.698C>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843092	0.51057	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	D;D	0.85013	-1.93;-1.93	4.95	3.98	0.46160	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.136793	0.34200	N	0.004161	D	0.93413	0.7899	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94031	0.7301	10	0.87932	D	0	.	11.4185	0.49967	0.0899:0.0:0.9101:0.0	.	233	Q08AH1	ACSM1_HUMAN	H	233	ENSP00000301956:P233H;ENSP00000428047:P233H	ENSP00000301956:P233H	P	-	2	0	ACSM1	20590408	1.000000	0.71417	0.996000	0.52242	0.483000	0.33249	3.276000	0.51646	2.567000	0.86603	0.603000	0.83216	CCC		0.542	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		5	68	5	68	---	---	---	---	T	20682907	G	T	20682907	3	4	72	1	0	0	0	0	1	0	0	0	182	1232	43	1	1075	1	ACSM1	16	20682907	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	9670537	20682907	69671846	131	3507										
PLK1	5347	broad.mit.edu	37	chr16	23692271	23692271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aaccaaagtcgaatatgacgGggagaggaagaagaccctgt	13	7	0	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.chr16:23692271G>T	ENST00000300093.4	+	3	725	c.614G>T	c.(613-615)gGg>gTg	p.G205V	PLK1_ENST00000564202.1_Intron	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	205	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAATATGACGGGGAGAGGAAG	0.522																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(613-615)gGg>gTg		polo-like kinase 1							148	141	143					16																	23692271		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23692271G>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.614G>T	16.37:g.23692271G>T	ENSP00000300093:p.Gly205Val		Somatic				PLK1_ENST00000564202.1_Intron	p.G205V	NM_005030.3	NP_005021.2	WXS	Illumina GAIIx	Phase_I	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	3	725	+			205			Activation loop.|Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.614G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723365	0.89298	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.66099	-0.19	5.47	5.47	0.80525	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	0.72269	0.3439	L	0.35793	1.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74839	-0.3528	10	0.87932	D	0	-24.4039	16.8166	0.85735	0.0:0.0:1.0:0.0	.	205	P53350	PLK1_HUMAN	V	205;108;205	ENSP00000300093:G205V	ENSP00000300093:G205V	G	+	2	0	PLK1	23599772	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.415000	0.97375	2.559000	0.86315	0.561000	0.74099	GGG		0.522	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		7	157	7	157	---	---	---	---	T	23692271	G	T	23692271	3	4	72	1	0	0	0	0	1	0	0	0	12094	1232	43	1	624	1	PLK1	16	23692271	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	3009364	23692271	66662482	132	3508										
NLRC5	84166	broad.mit.edu	37	chr16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccccattccctgcgacatggCccagcacctgaagagccagg	10	17	0	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.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	62	---	---	---	---	T	57116361	C	T	57116361	3	4	72	1	0	0	0	0	1	0	0	0	10470	739	26	2	5708	2	NLRC5	16	57116361	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	33424090	57116361	33238392	133	3509										
ATP6V0D1	9114	broad.mit.edu	37	chr16	67514914	67514914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtcggcctggctgagcacccCggccttcaggccgcgcacca	13	18	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.chr16:67514914C>A	ENST00000290949.3	-	1	226	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	26					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGAGCACCCCGGCCTTCAGG	0.662																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(76-78)Ggg>Tgg		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							51	52	52					16																	67514914		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514914C>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.76G>T	16.37:g.67514914C>A	ENSP00000290949:p.Gly26Trp		Somatic				ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W	p.G26W	NM_004691.4	NP_004682.2	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	226	-		Ovarian(137;0.0563)	26					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.76G>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644939	0.96704	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.33438	1.41;1.41	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-18.892	18.8691	0.92306	0.0:1.0:0.0:0.0	.	26;26	F5GYQ1;P61421	.;VA0D1_HUMAN	W	26	ENSP00000290949:G26W;ENSP00000441282:G26W	ENSP00000290949:G26W	G	-	1	0	ATP6V0D1	66072415	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.695000	0.84257	2.808000	0.96608	0.655000	0.94253	GGG		0.662	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	62	4	62	---	---	---	---	A	67514914	C	A	67514914	3	1	72	1	0	0	0	0	1	0	0	0	1173	652	23	1	1011	1	ATP6V0D1	16	67514914	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	10398553	67514914	22839839	134	3510										
ZFHX3	463	broad.mit.edu	37	chr16	72821572	72821572	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctccccacagagcgcgctctCgcacgccaggcagtggtacg	12	17	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.chr16:72821572C>A	ENST00000268489.5	-	10	11275	c.10603G>T	c.(10603-10605)Gag>Tag	p.E3535*	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3535					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)				AGCGCGCTCTCGCACGCCAGG	0.692																																						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.(10603-10605)Gag>Tag		zinc finger homeobox 3							165	133	143					16																	72821572		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.chr16:72821572C>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.10603G>T	16.37:g.72821572C>A	ENSP00000268489:p.Glu3535*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	p.E3535*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	11275	-		Ovarian(137;0.13)	3535					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.10603G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	54	22.979999	0.99952	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	4.22	4.22	0.49857	.	0.000000	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.949	0.86239	0.0:1.0:0.0:0.0	.	.	.	.	X	3535;2621	.	ENSP00000268489:E3535X	E	-	1	0	ZFHX3	71379073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.753000	0.62183	2.058000	0.61347	0.557000	0.71058	GAG		0.692	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	87	4	87	---	---	---	---	A	72821572	C	A	72821572	4	1	72	1	0	0	0	0	0	1	0	0	17631	893	31	3	512	3	ZFHX3	16	72821572	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	5306658	72821572	17533181	135	3511										
MYBBP1A	10514	broad.mit.edu	37	chr17	4443698	4443698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gtcgtgcaggcggctggagcCggtggagtgtgccccctgct	18	12	0	0	rs150092179		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.chr17:4443698C>A	ENST00000254718.4	-	25	3685	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1127					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGCTGGAGCCGGTGGAGTGT	0.642																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3379-3381)Ggc>Tgc		MYB binding protein (P160) 1a							58	56	57					17																	4443698		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443698C>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3379G>T	17.37:g.4443698C>A	ENSP00000254718:p.Gly1127Cys		Somatic				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C	p.G1127C			WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			25	3685	-			1127					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3379G>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763657	0.69878	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.19669	2.13;2.13	4.73	2.63	0.31362	.	0.743675	0.13485	N	0.384367	T	0.28433	0.0703	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.68039	0.902;0.955	T	0.07195	-1.0785	10	0.62326	D	0.03	-30.1856	4.8534	0.13547	0.2076:0.6754:0.0:0.1171	.	1127;1127	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	C	1127	ENSP00000370968:G1127C;ENSP00000254718:G1127C	ENSP00000254718:G1127C	G	-	1	0	MYBBP1A	4390447	0.002000	0.14202	0.018000	0.16275	0.530000	0.34684	1.014000	0.29950	0.628000	0.30357	0.555000	0.69702	GGC		0.642	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	42	4	42	---	---	---	---	A	4443698	C	A	4443698	3	1	72	1	0	0	0	0	1	0	0	0	10008	652	23	1	655	1	MYBBP1A	17	4443698	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		4443698	76751512	136	3512										
SLC25A11	8402	broad.mit.edu	37	chr17	4841355	4841355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccggcttcccatcaatcatcCgcatgttctggattctgcag	8	14	4	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.chr17:4841355C>A	ENST00000225665.7	-	7	1092	c.752G>T	c.(751-753)cGg>cTg	p.R251L	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	251					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						ATCAATCATCCGCATGTTCTG	0.622																																					Esophageal Squamous(144;1178 2388 18010 48797)	ENST00000225665.7																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(751-753)cGg>cTg		solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11							139	143	142					17																	4841355		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841355C>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.752G>T	17.37:g.4841355C>A	ENSP00000225665:p.Arg251Leu		Somatic				SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L	p.R251L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	WXS	Illumina GAIIx	Phase_I	Q02978	M2OM_HUMAN			7	1092	-			251					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.752G>T	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947626	0.53186	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	T;T	0.78816	-1.21;-1.21	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.121275	0.56097	D	0.000039	T	0.75236	0.3822	L	0.49513	1.565	0.44927	D	0.997942	P;P	0.38978	0.652;0.652	B;B	0.41088	0.347;0.347	T	0.78355	-0.2236	10	0.72032	D	0.01	-16.7622	13.8353	0.63406	0.0:1.0:0.0:0.0	.	251;251	Q6IBH0;Q02978	.;M2OM_HUMAN	L	251;200	ENSP00000225665:R251L;ENSP00000440804:R200L	ENSP00000225665:R251L	R	-	2	0	SLC25A11	4782100	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.082000	0.57635	2.637000	0.89404	0.655000	0.94253	CGG		0.622	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		4	137	4	137	---	---	---	---	A	4841355	C	A	4841355	3	1	72	1	0	0	0	0	1	0	0	0	14473	652	23	1	200	1	SLC25A11	17	4841355	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	397657	4841355	76353855	137	3513										
NUFIP2	57532	broad.mit.edu	37	chr17	27613720	27613720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tagttagcagtggctgacccCctggaggataaacatttcca	10	10	0	1	rs566984055		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.chr17:27613720C>A	ENST00000225388.4	-	2	1350	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	431						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)			TGGCTGACCCCCTGGAGGATA	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		18727	0		0	False		,,,				2504	0					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.(1291-1293)gGg>gTg		nuclear fragile X mental retardation protein interacting protein 2							65	65	65					17																	27613720		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613720C>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.1292G>T	17.37:g.27613720C>A	ENSP00000225388:p.Gly431Val		Somatic				NUFIP2_ENST00000579665.1_Intron	p.G431V	NM_020772.2	NP_065823.1	WXS	Illumina GAIIx	Phase_I	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1350	-			431					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1292G>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	6.269	0.417693	0.11870	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	4.18	0.49190	.	0.251449	0.35096	N	0.003446	T	0.42314	0.1197	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.17722	0.019	T	0.30736	-0.9968	9	0.66056	D	0.02	-21.2276	10.7901	0.46428	0.0:0.8009:0.1307:0.0684	.	431	Q7Z417	NUFP2_HUMAN	V	431	.	ENSP00000225388:G431V	G	-	2	0	NUFIP2	24637846	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.283000	0.43470	0.916000	0.36871	0.655000	0.94253	GGG		0.468	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		5	55	5	55	---	---	---	---	A	27613720	C	A	27613720	3	1	72	1	0	0	0	0	1	0	0	0	10749	623	22	1	807	1	NUFIP2	17	27613720	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	22772365	27613720	53581490	138	3514										
BLMH	642	broad.mit.edu	37	chr17	28599836	28599836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gttgtatagagtttttctccCtccaaccatattgcttaagt	6	9	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.chr17:28599836C>A	ENST00000261714.6	-	8	1057	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	295					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTTTTTCTCCCTCCAACCATA	0.403																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(883-885)Ggg>Tgg		bleomycin hydrolase							197	186	190					17																	28599836		2203	4300	6503	SO:0001583	missense	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28599836C>A	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.883G>T	17.37:g.28599836C>A	ENSP00000261714:p.Gly295Trp		Somatic				BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	p.G295W	NM_000386.3	NP_000377.1	WXS	Illumina GAIIx	Phase_I	Q13867	BLMH_HUMAN			8	1057	-			295					B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	c.883G>T	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642939	0.87859	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.57436	0.4;0.4	5.67	5.67	0.87782	.	0.194051	0.53938	D	0.000041	T	0.76557	0.4004	H	0.95504	3.68	0.80722	D	1	D;P	0.54964	0.969;0.925	P;P	0.54026	0.74;0.508	D	0.84108	0.0399	10	0.87932	D	0	-10.1206	16.9941	0.86362	0.0:1.0:0.0:0.0	.	208;295	E7EMN3;Q13867	.;BLMH_HUMAN	W	295;208	ENSP00000261714:G295W;ENSP00000378296:G208W	ENSP00000261714:G295W	G	-	1	0	BLMH	25623962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.683000	0.91414	0.650000	0.86243	GGG		0.403	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		5	99	5	99	---	---	---	---	A	28599836	C	A	28599836	3	1	72	1	0	0	0	0	1	0	0	0	1446	681	24	1	504	1	BLMH	17	28599836	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	986116	28599836	52595374	139	3515										
SLFN11	91607	broad.mit.edu	37	chr17	33690684	33690684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ttaataaagcacatgcagccCgcataactctctccttctct	4	14	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.chr17:33690684C>A	ENST00000394566.1	-	4	415	c.143G>T	c.(142-144)cGg>cTg	p.R48L	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	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	48					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)		ACATGCAGCCCGCATAACTCT	0.458																																						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.(142-144)cGg>cTg		schlafen family member 11							138	140	139					17																	33690684		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690684C>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.143G>T	17.37:g.33690684C>A	ENSP00000378067:p.Arg48Leu		Somatic				SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	p.R48L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	WXS	Illumina GAIIx	Phase_I	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	415	-		Ovarian(249;0.17)	48					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.143G>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473976	0.26423	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.23950	4.46;4.46;1.88;2.21;1.88	4.0	-0.254	0.12992	.	0.822637	0.09913	N	0.739573	T	0.19366	0.0465	L	0.50333	1.59	0.09310	N	1	B	0.25351	0.124	B	0.16289	0.015	T	0.28170	-1.0052	10	0.56958	D	0.05	.	3.6329	0.08138	0.1982:0.1498:0.0:0.652	.	48	Q7Z7L1	SLN11_HUMAN	L	48	ENSP00000312402:R48L;ENSP00000378067:R48L;ENSP00000397454:R48L;ENSP00000393615:R48L;ENSP00000395140:R48L	ENSP00000312402:R48L	R	-	2	0	SLFN11	30714797	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.644000	0.05415	0.085000	0.17107	-1.105000	0.02106	CGG		0.458	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		6	201	6	201	---	---	---	---	A	33690684	C	A	33690684	3	1	72	1	0	0	0	0	1	0	0	0	14733	652	23	1	2578	1	SLFN11	17	33690684	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	5090848	33690684	47504526	140	3516										
C17orf78	284099	broad.mit.edu	37	chr17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccgcagaaacagctctgcctCctcaagctgtcacctaatcc	6	17	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		Somatic				ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	p.S110C	NM_173625.3	NP_775896.3	WXS	Illumina GAIIx	Phase_I	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	6	136	---	---	---	---	G	35736258	C	G	35736258	3	3	72	1	0	0	0	0	1	0	0	0	1883	855	30	4	339	4	C17orf78	17	35736258	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2045574	35736258	45458952	141	3517										
RAB5C	5878	broad.mit.edu	37	chr17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atctcaaacttgactgttgtGtcatccaggcagacagtctg	9	10	3	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_ENST00000547517.1_Missense_Mutation_p.D100E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000393860.3_Missense_Mutation_p.D67E	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		Somatic				CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E	p.D67E	NM_201434.2	NP_958842.1	WXS	Illumina GAIIx	Phase_I	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	12	66	---	---	---	---	T	40280784	G	T	40280784	3	4	72	1	0	0	0	0	1	0	0	0	12950	1368	48	3	465	3	RAB5C	17	40280784	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	4544526	40280784	40914426	142	3518										
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cattcaggatggagaatttgAattttgcccgaacttcactc	8	9	2	2	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_ENST00000393331.3_Missense_Mutation_p.F102C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_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)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	15	79	---	---	---	---	C	47696643	A	C	47696643	3	2	72	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	143	3519										
UTP18	51096	broad.mit.edu	37	chr17	49371301	49371301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tacagtattttcaaacttccCagtcattaaaaataagaata	3	7	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.chr17:49371301C>A	ENST00000225298.7	+	12	1598	c.1541C>A	c.(1540-1542)cCa>cAa	p.P514Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	514					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TCAAACTTCCCAGTCATTAAA	0.368																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1540-1542)cCa>cAa		UTP18 small subunit (SSU) processome component homolog (yeast)							73	65	67					17																	49371301		1804	4063	5867	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49371301C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1541C>A	17.37:g.49371301C>A	ENSP00000225298:p.Pro514Gln		Somatic					p.P514Q	NM_016001.2	NP_057085.2	WXS	Illumina GAIIx	Phase_I	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		12	1598	+			514					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.1541C>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267665	0.59540	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.18502	2.21	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58405	-0.7642	10	0.87932	D	0	-12.3641	17.7891	0.88547	0.0:1.0:0.0:0.0	.	514	Q9Y5J1	UTP18_HUMAN	Q	514;490	ENSP00000225298:P514Q	ENSP00000225298:P514Q	P	+	2	0	UTP18	46726300	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	5.721000	0.68477	2.724000	0.93272	0.563000	0.77884	CCA		0.368	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		4	35	4	35	---	---	---	---	A	49371301	C	A	49371301	3	1	72	1	0	0	0	0	1	0	0	0	17095	594	21	1	1587	1	UTP18	17	49371301	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1674658	49371301	31823909	144	3520										
CCDC46	201134	broad.mit.edu	37	chr17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-													0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	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_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR	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)aaafs		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		Somatic				CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000541355.1_Intron	p.K832fs	NM_145036.3	NP_659473.2	WXS	Illumina GAIIx	Phase_I	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	72	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	14367996	63739297	17455913	145	3521										
WIPI1	55062	broad.mit.edu	37	chr17	66432555	66432555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	atcataaagcacaatctcccCtgaagtcaggcttccaggat	7	12	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.chr17:66432555C>A	ENST00000262139.5	-	5	495	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	166					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						ACAATCTCCCCTGAAGTCAGG	0.502											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(496-498)Ggg>Tgg		WD repeat domain, phosphoinositide interacting 1							140	124	130					17																	66432555		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.chr17:66432555C>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.496G>T	17.37:g.66432555C>A	ENSP00000262139:p.Gly166Trp		Somatic	OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1091	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	p.G166W	NM_017983.5	NP_060453.3	WXS	Illumina GAIIx	Phase_I	Q5MNZ9	WIPI1_HUMAN			5	495	-			166					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.496G>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873330	0.91664	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.63913	-0.07;1.67	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098791	0.64402	D	0.000001	D	0.84456	0.5476	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87434	0.2390	10	0.87932	D	0	-25.2794	19.6883	0.95987	0.0:1.0:0.0:0.0	.	166	Q5MNZ9	WIPI1_HUMAN	W	166;84	ENSP00000262139:G166W;ENSP00000437345:G84W	ENSP00000262139:G166W	G	-	1	0	WIPI1	63944150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.048000	0.76606	2.654000	0.90174	0.549000	0.68633	GGG		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		6	102	6	102	---	---	---	---	A	66432555	C	A	66432555	3	1	72	1	0	0	0	0	1	0	0	0	17367	681	24	1	880	1	WIPI1	17	66432555	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2693258	66432555	14762655	146	3522										
PRPSAP1	5635	broad.mit.edu	37	chr17	74308971	74308971	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctcgtctacggaggactcctCaatcaggcgaggggcctctg	13	13	4	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.chr17:74308971C>A	ENST00000446526.3	-	9	1424	c.979G>T	c.(979-981)Gag>Tag	p.E327*	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	298					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGACTCCTCAATCAGGCGA	0.478																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(979-981)Gag>Tag		phosphoribosyl pyrophosphate synthetase-associated protein 1							73	77	76					17																	74308971		2203	4300	6503	SO:0001587	stop_gained	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308971C>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.979G>T	17.37:g.74308971C>A	ENSP00000414624:p.Glu327*		Somatic				PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	p.E327*	NM_002766.2	NP_002757.2	WXS	Illumina GAIIx	Phase_I	Q14558	KPRA_HUMAN			9	1424	-			298					B2R6M4|Q96H06	Nonsense_Mutation	SNP	ENST00000446526.3	37	c.979G>T	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	37	6.048089	0.97236	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	.	.	.	5.83	5.83	0.93111	.	0.046650	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	.	.	.	X	327;224;224	.	ENSP00000314973:E224X	E	-	1	0	PRPSAP1	71820566	1.000000	0.71417	0.985000	0.45067	0.822000	0.46500	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	GAG		0.478	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		5	118	5	118	---	---	---	---	A	74308971	C	A	74308971	4	1	72	1	0	0	0	0	0	1	0	0	12581	835	29	3	186	3	PRPSAP1	17	74308971	Nonsense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7876416	74308971	6886239	147	3523										
HEXDC	284004	broad.mit.edu	37	chr17	80382311	80382311	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ctaggtgcaaacggcctcctCattgagtatgaagacatgtt	10	9	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.chr17:80382311C>A	ENST00000327949.9	+	2	137	c.126C>A	c.(124-126)ctC>ctA	p.L42L	HEXDC_ENST00000337014.6_Silent_p.L42L|HEXDC_ENST00000577944.1_Silent_p.L42L			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	42					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)			ACGGCCTCCTCATTGAGTATG	0.582																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(124-126)ctC>ctA		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							142	135	138					17																	80382311		1972	4149	6121	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80382311C>A	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.126C>A	17.37:g.80382311C>A			Somatic				HEXDC_ENST00000577944.1_Silent_p.L42L|HEXDC_ENST00000327949.9_Silent_p.L42L	p.L42L	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		3	600	+	Breast(20;0.00106)|all_neural(118;0.0804)		42					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.126C>A																																																																																					0.582	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	110	5	110	---	---	---	---	A	80382311	C	A	80382311	2	1	72	1	0	0	0	0	0	0	0	1	7075	813	29	3		3	HEXDC	17	80382311	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6073340	80382311	812899	148	3524										
HEXDC	284004	broad.mit.edu	37	chr17	80398917	80398917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cgaaagtggagaaccttctcGggatttccagcctggaaaaa	11	9	1	1	rs543564927		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.chr17:80398917G>T	ENST00000327949.9	+	9	1038	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	HEXDC_ENST00000337014.6_Missense_Mutation_p.G343W|HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	343					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)			GAACCTTCTCGGGATTTCCAG	0.592																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1027-1029)Ggg>Tgg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							133	150	145					17																	80398917		1889	4117	6006	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80398917G>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.1027G>T	17.37:g.80398917G>T	ENSP00000332634:p.Gly343Trp		Somatic				HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W|HEXDC_ENST00000327949.9_Missense_Mutation_p.G343W	p.G343W	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		10	1501	+	Breast(20;0.00106)|all_neural(118;0.0804)		343					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1027G>T		.	.	.	.	.	.	.	.	.	.	G	8.667	0.901810	0.17760	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	T;T	0.37915	1.17;1.3	5.01	4.02	0.46733	.	0.147791	0.64402	D	0.000009	T	0.64571	0.2610	M	0.88031	2.925	0.18873	N	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61594	-0.7031	10	0.87932	D	0	-29.553	13.0337	0.58859	0.0:0.1619:0.8381:0.0	.	343;343	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	W	343	ENSP00000337854:G343W;ENSP00000332634:G343W	ENSP00000332634:G343W	G	+	1	0	HEXDC	77992206	0.995000	0.38212	0.004000	0.12327	0.002000	0.02628	2.956000	0.49129	1.205000	0.43262	0.563000	0.77884	GGG		0.592	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	268	5	268	---	---	---	---	T	80398917	G	T	80398917	3	4	72	1	0	0	0	0	1	0	0	0	7075	1116	39	1	1061	1	HEXDC	17	80398917	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	16606	80398917	796293	149	3525										
LAMA1	284217	broad.mit.edu	37	chr18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcaacaatcagagtgatacgGtgtttgcttttgttagcttg	10	6	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.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		Somatic					p.H2987Q	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	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	5	137	---	---	---	---	C	6943285	G	C	6943285	3	2	72	1	0	0	0	0	1	0	0	0	8605	1252	44	4	274	4	LAMA1	18	6943285	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		6943285	71133963	150	3526										
SLC14A1	6563	broad.mit.edu	37	chr18	43311098	43311098	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ggacttcttgttcagaacccCtggtgggctctcactggctg	12	12	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.chr18:43311098C>A	ENST00000321925.4	+	4	502	c.270C>A	c.(268-270)ccC>ccA	p.P90P	SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000415427.3_Silent_p.P146P|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000586142.1_Silent_p.P90P|RP11-116O18.3_ENST00000589510.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	90					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAGAACCCCTGGTGGGCTC	0.547																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(268-270)ccC>ccA		solute carrier family 14 (urea transporter), member 1							91	83	85					18																	43311098		2203	4300	6503	SO:0001819	synonymous_variant	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43311098C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.270C>A	18.37:g.43311098C>A			Somatic				RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000415427.3_Silent_p.P146P|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.P90P	p.P90P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	WXS	Illumina GAIIx	Phase_I	Q13336	UT1_HUMAN			4	502	+			90					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Silent	SNP	ENST00000321925.4	37	c.270C>A	CCDS11925.1																																																																																				0.547	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		5	70	5	70	---	---	---	---	A	43311098	C	A	43311098	2	1	72	1	0	0	0	0	0	0	0	1	14396	668	24	1		1	SLC14A1	18	43311098	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	36367813	43311098	34766150	151	3527										
ATP8B1	5205	broad.mit.edu	37	chr18	55319857	55319857	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aggatcatcgatgttaggacCccatgcaacaagcttacaaa	8	10	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.chr18:55319857C>A	ENST00000283684.4	-	24	3119	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.G1040G|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1040			G -> R (in PFIC1; greatly reduces interaction with TMEM30A). {ECO:0000269|PubMed:15239083}.		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)				ATGTTAGGACCCCATGCAACA	0.463																																						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.(3118-3120)ggG>ggT		ATPase, aminophospholipid transporter, class I, type 8B, member 1							141	127	132					18																	55319857		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:55319857C>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.3120G>T	18.37:g.55319857C>A			Somatic				RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G1040G	p.G1040G	NM_005603.4	NP_005594	WXS	Illumina GAIIx	Phase_I	O43520	AT8B1_HUMAN			25	3239	-		Colorectal(73;0.229)	1040		G -> R (in PFIC1).			Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.3120G>T	CCDS11965.1																																																																																				0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		6	99	6	99	---	---	---	---	A	55319857	C	A	55319857	2	1	72	1	0	0	0	0	0	0	0	1	1194	610	22	1		1	ATP8B1	18	55319857	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	12008759	55319857	22757391	152	3528										
KDM4B	23030	broad.mit.edu	37	chr19	5144058	5144058	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tacgagcactgctccacgtcCttccacgtgacctgcgccca	8	18	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.chr19:5144058C>A	ENST00000159111.4	+	19	2849	c.2631C>A	c.(2629-2631)tcC>tcA	p.S877S	KDM4B_ENST00000536461.1_Silent_p.S911S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	877					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						GCTCCACGTCCTTCCACGTGA	0.627																																						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.(2629-2631)tcC>tcA		lysine (K)-specific demethylase 4B							86	78	81					19																	5144058		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:5144058C>A	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.2631C>A	19.37:g.5144058C>A			Somatic				KDM4B_ENST00000536461.1_Silent_p.S911S	p.S877S	NM_015015.2	NP_055830	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			19	2849	+			877					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.2631C>A	CCDS12138.1																																																																																				0.627	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	101	5	101	---	---	---	---	A	5144058	C	A	5144058	2	1	72	1	0	0	0	0	0	0	0	1	8129	668	24	1		1	KDM4B	19	5144058	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		5144058	53984925	153	3529										
HNRNPM	4670	broad.mit.edu	37	chr19	8551064	8551064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cgcatgggcctggagcgcatGggtgccaacagcctcgagcg	16	13	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.chr19:8551064G>T	ENST00000325495.4	+	14	1793	c.1752G>T	c.(1750-1752)atG>atT	p.M584I	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M545I	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	584	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAGCGCATGGGTGCCAACA	0.721																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1633-1635)atG>atT		heterogeneous nuclear ribonucleoprotein M							34	38	37					19																	8551064		2200	4297	6497	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551064G>T	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1752G>T	19.37:g.8551064G>T	ENSP00000325376:p.Met584Ile		Somatic				HNRNPM_ENST00000325495.4_Missense_Mutation_p.M584I	p.M545I	NM_031203.3	NP_112480.2	WXS	Illumina GAIIx	Phase_I	P52272	HNRPM_HUMAN			15	1867	+			584			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1635G>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491577	0.12702	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.13901	2.55;2.86	5.4	5.4	0.78164	.	0.118831	0.85682	D	0.000000	T	0.10551	0.0258	L	0.29908	0.895	0.42150	D	0.991554	B;B;B;B	0.10296	0.003;0.0;0.0;0.001	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.16394	-1.0404	10	0.23891	T	0.37	.	11.7969	0.52104	0.0:0.0:0.825:0.175	.	424;584;545;469	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	I	584;545;469;141	ENSP00000325376:M584I;ENSP00000325732:M545I	ENSP00000325376:M584I	M	+	3	0	HNRNPM	8457064	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.190000	0.50973	2.536000	0.85505	0.491000	0.48974	ATG		0.721	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	98	5	98	---	---	---	---	T	8551064	G	T	8551064	3	4	72	1	0	0	0	0	1	0	0	0	7271	1348	47	1	1806	1	HNRNPM	19	8551064	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	3407006	8551064	50577919	154	3530										
OR7G1	125962	broad.mit.edu	37	chr19	9225971	9225971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	taccatcagactctgaaccaGggcatccatagtgctcatga	8	12	3	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.chr19:9225971G>T	ENST00000541538.1	-	1	468	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	OR7G1_ENST00000293614.1_Missense_Mutation_p.L157M	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	157						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)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTCTGAACCAGGGCATCCATA	0.483																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(469-471)Ctg>Atg		olfactory receptor, family 7, subfamily G, member 1							108	101	104					19																	9225971		2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9225971G>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.469C>A	19.37:g.9225971G>T	ENSP00000444134:p.Leu157Met		Somatic				OR7G1_ENST00000541538.1_Missense_Mutation_p.L157M	p.L157M			WXS	Illumina GAIIx	Phase_I	Q8NGA0	OR7G1_HUMAN			1	468	-			157					Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.469C>A	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979404	0.34942	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00269	8.37;8.37	3.78	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.699644	0.11021	U	0.608420	T	0.00524	0.0017	M	0.82433	2.59	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.49322	-0.8952	10	0.66056	D	0.02	.	7.657	0.28381	0.2078:0.0:0.7922:0.0	.	157	Q8NGA0	OR7G1_HUMAN	M	157	ENSP00000293614:L157M;ENSP00000444134:L157M	ENSP00000293614:L157M	L	-	1	2	OR7G1	9086971	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.113000	0.10774	0.920000	0.36970	0.501000	0.49751	CTG		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			5	110	5	110	---	---	---	---	T	9225971	G	T	9225971	3	4	72	1	0	0	0	0	1	0	0	0	11222	991	35	1	540	1	OR7G1	19	9225971	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	674907	9225971	49903012	155	3531										
RAVER1	125950	broad.mit.edu	37	chr19	10439413	10439413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gcggtccacacagaggcagcGggagtggagaagggcaggcg	20	9	0	2	rs371524276		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.chr19:10439413G>T	ENST00000293677.6	-	3	793	c.712C>A	c.(712-714)Cgc>Agc	p.R238S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	221	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					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)			CAGAGGCAGCGGGAGTGGAGA	0.672																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(712-714)Cgc>Agc		ribonucleoprotein, PTB-binding 1							18	22	21					19																	10439413		2176	4261	6437	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439413G>T		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.712C>A	19.37:g.10439413G>T	ENSP00000293677:p.Arg238Ser		Somatic					p.R238S	NM_133452.2	NP_597709.2	WXS	Illumina GAIIx	Phase_I	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	793	-			221			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.712C>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927105	0.52759	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.06449	3.3	5.07	5.07	0.68467	.	0.214383	0.39146	N	0.001443	T	0.07369	0.0186	L	0.35341	1.055	0.37457	D	0.915056	B	0.23185	0.081	B	0.19666	0.026	T	0.17899	-1.0354	10	0.72032	D	0.01	-24.5425	15.9636	0.79950	0.0:0.0:1.0:0.0	.	238	E9PAU2	.	S	238;221	ENSP00000293677:R238S	ENSP00000293677:R238S	R	-	1	0	RAVER1	10300413	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.464000	0.60134	2.357000	0.79964	0.650000	0.86243	CGC		0.672	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		3	28	3	28	---	---	---	---	T	10439413	G	T	10439413	3	4	72	1	0	0	0	0	1	0	0	0	13094	1116	39	1	1602	1	RAVER1	19	10439413	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1213442	10439413	48689570	156	3532										
ZNF790	388536	broad.mit.edu	37	chr19	37314238	37314238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aatcttccagggctctttccCtttctccaataaagagaacg	6	12	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.chr19:37314238C>A	ENST00000356725.4	-	4	298	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	60	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)			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)			GGCTCTTTCCCTTTCTCCAAT	0.453																																						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.(178-180)Ggg>Tgg		zinc finger protein 790							68	60	63					19																	37314238		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37314238C>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.178G>T	19.37:g.37314238C>A	ENSP00000349161:p.Gly60Trp		Somatic				CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.G60W	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	WXS	Illumina GAIIx	Phase_I	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		4	298	-	Esophageal squamous(110;0.183)		60			KRAB.			Missense_Mutation	SNP	ENST00000356725.4	37	c.178G>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.686883	0.48097	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.01034	5.42;5.42;5.42	3.58	2.55	0.30701	Krueppel-associated box (3);	.	.	.	.	T	0.06826	0.0174	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10917	-1.0609	9	0.62326	D	0.03	.	6.1569	0.20342	0.0:0.8619:0.0:0.1381	.	60	Q6PG37	ZN790_HUMAN	W	60	ENSP00000349161:G60W;ENSP00000435944:G60W;ENSP00000433389:G60W	ENSP00000349161:G60W	G	-	1	0	ZNF790	42006078	0.004000	0.15560	0.044000	0.18714	0.967000	0.64934	1.322000	0.33689	1.991000	0.58162	0.460000	0.39030	GGG		0.453	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		4	43	4	43	---	---	---	---	A	37314238	C	A	37314238	3	1	72	1	0	0	0	0	1	0	0	0	18159	681	24	1	1740	1	ZNF790	19	37314238	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	26874825	37314238	21814745	157	3533										
MEGF8	1954	broad.mit.edu	37	chr19	42880167	42880167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gctggtggtccgcggcgtgcGggaccggctggtcatcacct	17	13	2	0	rs371459258		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.chr19:42880167G>T	ENST00000251268.6	+	42	7778	c.7778G>T	c.(7777-7779)cGg>cTg	p.R2593L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R2526L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2593					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)				CGCGGCGTGCGGGACCGGCTG	0.692																																						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.(7576-7578)cGg>cTg		multiple EGF-like-domains 8							50	52	51					19																	42880167		2192	4282	6474	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880167G>T	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.7778G>T	19.37:g.42880167G>T	ENSP00000251268:p.Arg2593Leu		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.R2593L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	p.R2526L	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			41	8212	+		Prostate(69;0.00682)	2593					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7577G>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.234065	0.79688	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.23348	1.91;1.92	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.46229	0.1382	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.85130	0.995;0.77;0.997	T	0.39187	-0.9626	10	0.66056	D	0.02	-18.3114	17.7125	0.88326	0.0:0.0:1.0:0.0	.	187;2593;2526	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	L	2526;2593;187	ENSP00000334219:R2526L;ENSP00000251268:R2593L	ENSP00000251268:R2593L	R	+	2	0	MEGF8	47572007	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	6.997000	0.76270	2.569000	0.86673	0.561000	0.74099	CGG		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	98	4	98	---	---	---	---	T	42880167	G	T	42880167	3	4	72	1	0	0	0	0	1	0	0	0	9463	1116	39	1	7739	1	MEGF8	19	42880167	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	5565929	42880167	16248816	158	3534										
ZNF576	79177	broad.mit.edu	37	chr19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccaccctgccggttgcaaccActactgcccagcccaccttc	6	21	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.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|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		Somatic				ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	p.T106P	NM_001145347.1	NP_001138819.1	WXS	Illumina GAIIx	Phase_I	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	9	97	---	---	---	---	C	44103213	A	C	44103213	3	2	72	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	1223046	44103213	15025770	159	3535										
CADM4	199731	broad.mit.edu	37	chr19	44131831	44131831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agaagagggtctgccgggctGggttctggatgacaactatg	16	7	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.chr19:44131831G>T	ENST00000222374.2	-	2	224	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	59	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCCGGGCTGGGTTCTGGAT	0.587																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(175-177)cCa>cAa		cell adhesion molecule 4							179	160	166					19																	44131831		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131831G>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30825	protein-coding gene	gene with protein product	"nectin-like 4"	609744	"immunoglobulin superfamily, member 4C"	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.176C>A	19.37:g.44131831G>T	ENSP00000222374:p.Pro59Gln		Somatic					p.P59Q	NM_145296.1	NP_660339.1	WXS	Illumina GAIIx	Phase_I	Q8NFZ8	CADM4_HUMAN			2	224	-		Prostate(69;0.0199)	59			Ig-like V-type.		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.176C>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179744	0.78564	.	.	ENSG00000105767	ENST00000222374	T	0.66280	-0.2	5.57	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.70595	2.14	0.48341	D	0.999633	D	0.67145	0.996	D	0.70016	0.967	T	0.79838	-0.1634	10	0.72032	D	0.01	.	14.2681	0.66135	0.0:0.1502:0.8498:0.0	.	59	Q8NFZ8	CADM4_HUMAN	Q	59	ENSP00000222374:P59Q	ENSP00000222374:P59Q	P	-	2	0	CADM4	48823671	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.189000	0.89712	1.339000	0.45563	0.591000	0.81541	CCA		0.587	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		5	140	5	140	---	---	---	---	T	44131831	G	T	44131831	3	4	72	1	0	0	0	0	1	0	0	0	2569	1348	47	1	1022	1	CADM4	19	44131831	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	28618	44131831	14997152	160	3536										
TBC1D20	128637	broad.mit.edu	37	chr20	419417	419417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gaagtccccgaaaccgctgcCgcagcaccatatcaggcctc	9	17	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.chr20:419417C>A	ENST00000354200.4	-	8	1172	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	342					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAACCGCTGCCGCAGCACCAT	0.557																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1024-1026)cGg>cTg		TBC1 domain family, member 20							75	79	78					20																	419417		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419417C>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"chromosome 20 open reading frame 140"	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1025G>T	20.37:g.419417C>A	ENSP00000346139:p.Arg342Leu		Somatic				TBC1D20_ENST00000461188.1_5'UTR	p.R342L	NM_144628.2	NP_653229.1	WXS	Illumina GAIIx	Phase_I	Q96BZ9	TBC20_HUMAN			8	1172	-		all_epithelial(17;0.228)|Breast(17;0.231)	342					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1025G>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565748	0.86439	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.33654	1.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.65498	2.005	0.80722	D	1	P	0.35575	0.51	B	0.33121	0.158	T	0.29366	-1.0014	10	0.49607	T	0.09	-29.89	19.6321	0.95713	0.0:1.0:0.0:0.0	.	342	Q96BZ9	TBC20_HUMAN	L	342;367	ENSP00000346139:R342L	ENSP00000246077:R367L	R	-	2	0	TBC1D20	367417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.653000	0.83643	2.884000	0.98904	0.655000	0.94253	CGG		0.557	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		4	129	4	129	---	---	---	---	A	419417	C	A	419417	3	1	72	1	0	0	0	0	1	0	0	0	15606	652	23	1	190	1	TBC1D20	20	419417	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		419417	62606103	161	3537										
NSFL1C	55968	broad.mit.edu	37	chr20	1433744	1433744	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	cttctgagttctccattatcCaggctgaatccactcttcca	5	14	3	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.chr20:1433744C>A	ENST00000216879.4	-	6	1446	c.579G>T	c.(577-579)ctG>ctT	p.L193L	NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000381658.4_Silent_p.L82L|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	193	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					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						CTCCATTATCCAGGCTGAATC	0.468																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(577-579)ctG>ctT		NSFL1 (p97) cofactor (p47)							172	161	165					20																	1433744		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433744C>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.579G>T	20.37:g.1433744C>A			Somatic				NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000381658.4_Silent_p.L82L	p.L193L	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			6	1446	-			193			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.579G>T	CCDS13015.1																																																																																				0.468	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		6	204	6	204	---	---	---	---	A	1433744	C	A	1433744	2	1	72	1	0	0	0	0	0	0	0	1	10672	581	21	1		1	NSFL1C	20	1433744	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	1014327	1433744	61591776	162	3538										
SEL1L2	80343	broad.mit.edu	37	chr20	13856749	13856749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ttgcggcacggcagcattccCctctaaatacatctaggaag	9	12	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.chr20:13856749C>A	ENST00000284951.5	-	12	1113	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						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						GCAGCATTCCCCTCTAAATAC	0.368																																						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.(1039-1041)Ggg>Tgg		sel-1 suppressor of lin-12-like 2 (C. elegans)							145	136	139					20																	13856749		1871	4099	5970	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13856749C>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.1039G>T	20.37:g.13856749C>A	ENSP00000284951:p.Gly347Trp		Somatic				SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W	p.G347W			WXS	Illumina GAIIx	Phase_I	Q5TEA6	SE1L2_HUMAN			12	1113	-			347					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1039G>T		.	.	.	.	.	.	.	.	.	.	C	24.7	4.564141	0.86335	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.61510	0.1;0.1	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	D	0.86003	0.5829	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	0.90932	0.4791	10	0.87932	D	0	-6.7647	17.6801	0.88240	0.0:1.0:0.0:0.0	.	347;347	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	W	347	ENSP00000367312:G347W;ENSP00000284951:G347W	ENSP00000284951:G347W	G	-	1	0	SEL1L2	13804749	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.476000	0.73587	2.781000	0.95711	0.650000	0.86243	GGG		0.368	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		6	140	6	140	---	---	---	---	A	13856749	C	A	13856749	3	1	72	1	0	0	0	0	1	0	0	0	14011	623	22	1	1063	1	SEL1L2	20	13856749	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	12423005	13856749	49168771	163	3539										
C20orf26	26074	broad.mit.edu	37	chr20	20180496	20180496	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	gacgacagattgtctatcctCtggaaaagcttggcataaac	9	9	2	1	rs116508993	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.chr20:20180496C>A	ENST00000245957.5	+	17	1958	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		628										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)		TGTCTATCCTCTGGAAAAGCT	0.602																																						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.(1882-1884)Ctg>Atg		chromosome 20 open reading frame 26							142	127	132					20																	20180496		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180496C>A																												ENST00000245957.5:c.1882C>A	20.37:g.20180496C>A	ENSP00000245957:p.Leu628Met		Somatic				C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.L628M	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1958	+			628					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1882C>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977423	0.53720	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.27557	1.66	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000009	T	0.52468	0.1736	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.45977	-0.9224	10	0.38643	T	0.18	.	13.8075	0.63243	0.0:0.9268:0.0:0.0732	.	608;628	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	568;196;608;628	ENSP00000245957:L628M	ENSP00000245957:L628M	L	+	1	2	C20orf26	20128496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.463000	0.60128	2.620000	0.88729	0.563000	0.77884	CTG		0.602	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			7	151	7	151	---	---	---	---	A	20180496	C	A	20180496	3	1	72	1	0	0	0	0	1	0	0	0	2106	912	32	3	1976	3	C20orf26	20	20180496	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	6323747	20180496	42845024	164	3540										
CEP250	11190	broad.mit.edu	37	chr20	34078501	34078501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	caccagcaggagctggcaaaGgctctggagagcttagaaag	14	9	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.chr20:34078501G>T	ENST00000397527.1	+	21	3345	c.2625G>T	c.(2623-2625)aaG>aaT	p.K875N	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	875	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)			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)			AGCTGGCAAAGGCTCTGGAGA	0.547																																						ENST00000397527.1																			0				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.(2623-2625)aaG>aaT		centrosomal protein 250kDa							63	68	66					20																	34078501		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.chr20:34078501G>T	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.2625G>T	20.37:g.34078501G>T	ENSP00000380661:p.Lys875Asn		Somatic				CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	p.K875N	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		21	3345	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		875			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2625G>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116600	0.56505	.	.	ENSG00000126001	ENST00000397527	T	0.10668	2.85	4.47	4.47	0.54385	.	0.258863	0.27981	N	0.017075	T	0.23766	0.0575	M	0.77820	2.39	0.80722	D	1	D	0.58620	0.983	P	0.54590	0.756	T	0.02365	-1.1170	10	0.19590	T	0.45	.	12.8225	0.57700	0.0:0.0:1.0:0.0	.	875	Q9BV73	CP250_HUMAN	N	875	ENSP00000380661:K875N	ENSP00000380661:K875N	K	+	3	2	CEP250	33541915	0.972000	0.33761	0.697000	0.30258	0.538000	0.34931	2.915000	0.48805	2.503000	0.84419	0.555000	0.69702	AAG		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	101	5	101	---	---	---	---	T	34078501	G	T	34078501	3	4	72	1	0	0	0	0	1	0	0	0	3252	991	35	1	2695	1	CEP250	20	34078501	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	13898005	34078501	28947019	165	3541										
CEP250	11190	broad.mit.edu	37	chr20	34092575	34092575	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aacaacctggaagccttaccCcacagccacaaaacctcccc	4	19	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.chr20:34092575C>A	ENST00000397527.1	+	30	7098	c.6378C>A	c.(6376-6378)ccC>ccA	p.P2126P	CEP250_ENST00000342580.4_Silent_p.P2070P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2126	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)			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)			AAGCCTTACCCCACAGCCACA	0.537																																						ENST00000397527.1																			0				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.(6376-6378)ccC>ccA		centrosomal protein 250kDa							75	82	80					20																	34092575		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:34092575C>A	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.6378C>A	20.37:g.34092575C>A			Somatic				CEP250_ENST00000342580.4_Silent_p.P2070P	p.P2126P	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	7098	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2126			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.6378C>A	CCDS13255.1																																																																																				0.537	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		6	127	6	127	---	---	---	---	A	34092575	C	A	34092575	2	1	72	1	0	0	0	0	0	0	0	1	3252	610	22	1		1	CEP250	20	34092575	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	14074	34092575	28932945	166	3542										
CABLES2	81928	broad.mit.edu	37	chr20	60966501	60966501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	ccgacaggctccgcatctccCgctttaagctgtgggttaag	11	13	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.chr20:60966501C>A	ENST00000279101.5	-	9	1108	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	367					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCATCTCCCGCTTTAAGCT	0.642																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1099-1101)cGg>cTg		Cdk5 and Abl enzyme substrate 2																																				SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966501C>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1100G>T	20.37:g.60966501C>A	ENSP00000279101:p.Arg367Leu		Somatic					p.R367L	NM_031215.2	NP_112492.2	WXS	Illumina GAIIx	Phase_I	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1108	-	Breast(26;2.05e-08)		367					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1100G>T	CCDS33503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449361|4.449361	0.84101|0.84101	.|.	.|.	ENSG00000149679|ENSG00000149679	ENST00000453274|ENST00000370560;ENST00000279101	.|T	.|0.17528	.|2.27	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Cyclin-like (3);	.|0.050917	.|0.85682	.|D	.|0.000000	T|T	0.45094|0.45094	0.1325|0.1325	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.39165|0.39165	-0.9627|-0.9627	5|10	.|0.62326	.|D	.|0.03	-28.3781|-28.3781	19.1709|19.1709	0.93576|0.93576	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|367	.|Q9BTV7	.|CABL2_HUMAN	W|L	161|155;367	.|ENSP00000279101:R367L	.|ENSP00000279101:R367L	G|R	-|-	1|2	0|0	CABLES2|CABLES2	60399896|60399896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	5.890000|5.890000	0.69774|0.69774	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.642	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		5	134	5	134	---	---	---	---	A	60966501	C	A	60966501	3	1	72	1	0	0	0	0	1	0	0	0	2530	652	23	1	344	1	CABLES2	20	60966501	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	26873926	60966501	2059019	167	3543										
NPBWR2	2832	broad.mit.edu	37	chr20	62737951	62737951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aggatgaacacgttggtcacCgtcttcatcttgggcgccct	11	12	4	1	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			Somatic					p.T78T	NM_005286.2	NP_005277.2	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	T	62737951	C	T	62737951	2	4	72	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	1771450	62737951	287569	168	3544										
USP18	11274	broad.mit.edu	37	chr22	18640582	18640582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tcccagggcctgggactaccCtcatggtcattagacccctc	9	16	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.chr22:18640582C>A	ENST00000215794.7	+	2	582	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	51					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGGGACTACCCTCATGGTCAT	0.552																																						ENST00000215794.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						c.(151-153)cCt>cAt		ubiquitin specific peptidase 18							90	89	89					22																	18640582		2203	4300	6503	SO:0001583	missense	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18640582C>A	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.152C>A	22.37:g.18640582C>A	ENSP00000215794:p.Pro51His		Somatic					p.P51H	NM_017414.3	NP_059110.2	WXS	Illumina GAIIx	Phase_I	Q9UMW8	UBP18_HUMAN			2	582	+			51					Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	c.152C>A	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	13.69	2.311733	0.40895	.	.	ENSG00000184979	ENST00000215794	T	0.05649	3.41	4.76	-0.171	0.13331	.	1.055300	0.07422	N	0.894138	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43669	-0.9377	10	0.72032	D	0.01	.	7.3035	0.26434	0.4884:0.3526:0.1589:0.0	.	51	Q9UMW8	UBP18_HUMAN	H	51	ENSP00000215794:P51H	ENSP00000215794:P51H	P	+	2	0	USP18	17020582	0.000000	0.05858	0.055000	0.19348	0.761000	0.43186	-0.453000	0.06778	0.277000	0.22141	0.591000	0.81541	CCT		0.552	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			6	113	6	113	---	---	---	---	A	18640582	C	A	18640582	3	1	72	1	0	0	0	0	1	0	0	0	17046	681	24	1	154	1	USP18	22	18640582	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		18640582	32663984	169	3545										
THAP7	80764	broad.mit.edu	37	chr22	21355055	21355055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aatatggtggggactgccccCtcctttagcctgtgatatcc	10	12	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.chr22:21355055C>A	ENST00000215742.4	-	3	432	c.258G>T	c.(256-258)gaG>gaT	p.E86D	THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.E86D|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	86					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)			GGACTGCCCCCTCCTTTAGCC	0.602																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(256-258)gaG>gaT		THAP domain containing 7							119	114	116					22																	21355055		2203	4300	6503	SO:0001583	missense	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.chr22:21355055C>A	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.258G>T	22.37:g.21355055C>A	ENSP00000215742:p.Glu86Asp		Somatic				THAP7_ENST00000399133.2_Missense_Mutation_p.E86D	p.E86D	NM_030573.2	NP_085050.2	WXS	Illumina GAIIx	Phase_I	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	432	-	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)	86					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.258G>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483230	0.44147	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96300	-3.97;-3.97	4.24	-4.93	0.03066	Zinc finger, C2CH-type (4);	0.320997	0.23904	N	0.043402	D	0.83830	0.5339	N	0.04746	-0.17	0.31300	N	0.688431	P	0.35944	0.529	B	0.31869	0.137	D	0.83595	0.0125	10	0.02654	T	1	-16.0419	10.342	0.43884	0.0:0.3505:0.0:0.6495	.	86	Q9BT49	THAP7_HUMAN	D	86	ENSP00000215742:E86D;ENSP00000382084:E86D	ENSP00000215742:E86D	E	-	3	2	THAP7	19685055	0.617000	0.27043	0.934000	0.37439	0.956000	0.61745	-0.612000	0.05616	-0.681000	0.05204	-0.291000	0.09656	GAG		0.602	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		6	125	6	125	---	---	---	---	A	21355055	C	A	21355055	3	1	72	1	0	0	0	0	1	0	0	0	15846	680	24	1	679	1	THAP7	22	21355055	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2714473	21355055	29949511	170	3546										
PATZ1	23598	broad.mit.edu	37	chr22	31741056	31741056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	agcccaagtccgaggtcccaGgggggcgaaagagcattata	14	10	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.chr22:31741056G>T	ENST00000266269.5	-	1	1162	c.533C>A	c.(532-534)cCt>cAt	p.P178H	PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	178					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						CGAGGTCCCAGGGGGGCGAAA	0.592																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(532-534)cCt>cAt		POZ (BTB) and AT hook containing zinc finger 1							70	78	75					22																	31741056		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741056G>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.533C>A	22.37:g.31741056G>T	ENSP00000266269:p.Pro178His		Somatic				PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	p.P178H	NM_014323.2	NP_055138.2	WXS	Illumina GAIIx	Phase_I	Q9HBE1	PATZ1_HUMAN			1	1162	-			178					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.533C>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176936	0.57692	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.13196	2.8;2.61;2.8;2.83	3.98	3.98	0.46160	.	0.361214	0.29508	N	0.011951	T	0.12732	0.0309	N	0.14661	0.345	0.34106	D	0.662422	D;P;P;P	0.53462	0.96;0.921;0.947;0.804	P;P;P;P	0.50162	0.633;0.481;0.527;0.563	T	0.17776	-1.0358	10	0.66056	D	0.02	-7.6304	11.9163	0.52767	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	H	178	ENSP00000266269:P178H;ENSP00000384173:P178H;ENSP00000337520:P178H;ENSP00000215919:P178H	ENSP00000215919:P178H	P	-	2	0	PATZ1	30071056	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.145000	0.58065	1.936000	0.56123	0.462000	0.41574	CCT		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	122	5	122	---	---	---	---	T	31741056	G	T	31741056	3	4	72	1	0	0	0	0	1	0	0	0	11476	1000	35	1	1833	1	PATZ1	22	31741056	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	10386001	31741056	19563510	171	3547										
KIF4A	24137	broad.mit.edu	37	chrX	69550106	69550106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	tacccttcgctatgctgacaGagcaagaaaaatcaagaaca	7	10	1	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.chrX:69550106G>T	ENST00000374403.3	+	9	1077	c.995G>T	c.(994-996)aGa>aTa	p.R332I	KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	332	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)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATGCTGACAGAGCAAGAAAA	0.388																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(994-996)aGa>aTa		kinesin family member 4A							131	124	126					X																	69550106		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69550106G>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.995G>T	X.37:g.69550106G>T	ENSP00000363524:p.Arg332Ile		Somatic				KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	p.R332I	NM_012310.4	NP_036442.3	WXS	Illumina GAIIx	Phase_I	O95239	KIF4A_HUMAN			9	1077	+			332			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.995G>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656819	0.88154	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.78246	-1.16;-1.16	5.16	5.16	0.70880	Kinesin, motor domain (3);	0.177175	0.40064	N	0.001196	D	0.92414	0.7592	H	0.97806	4.08	0.80722	D	1	P;D	0.71674	0.917;0.998	D;D	0.69479	0.922;0.964	D	0.95295	0.8398	10	0.87932	D	0	.	16.9009	0.86113	0.0:0.0:1.0:0.0	.	332;332	O95239;O95239-2	KIF4A_HUMAN;.	I	332	ENSP00000363509:R332I;ENSP00000363524:R332I	ENSP00000363509:R332I	R	+	2	0	KIF4A	69466831	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.379000	0.97198	2.285000	0.76669	0.436000	0.28706	AGA		0.388	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		5	109	5	109	---	---	---	---	T	69550106	G	T	69550106	3	4	72	1	0	0	0	0	1	0	0	0	8303	942	33	3	1025	3	KIF4A	23	69550106	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		69550106	85720454	172	3548										
PCDH11X	27328	broad.mit.edu	37	chrX	91134001	91134001	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0173410404624277	3	1	1.21175811870101	0	1.64452887537994	0.214285714285714	1	0	aacaatgggaaagtacaattGggtaactacacctactactt	7	8	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.chrX:91134001G>T	ENST00000373094.1	+	2	3607	c.2762G>T	c.(2761-2763)tGg>tTg	p.W921L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	921					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)	p.W921L(3)		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						AAGTACAATTGGGTAACTACA	0.448																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			3	Substitution - Missense(3)	p.W921L(3)	lung(3)	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.(2761-2763)tGg>tTg		protocadherin 11 X-linked							168	146	153					X																	91134001		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134001G>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.2762G>T	X.37:g.91134001G>T	ENSP00000362186:p.Trp921Leu		Somatic				PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L	p.W921L	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	3607	+			921					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.2762G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482834	0.26598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.79;0.8;0.74;0.81;0.78;0.78;0.8;0.81	5.16	5.16	0.70880	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.71581	2.175	0.52099	D	0.999948	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;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69533	-0.5120	10	0.46703	T	0.11	.	16.6258	0.84970	0.0:0.0:1.0:0.0	.	921;921;921;921;921;921;921;921	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	921	ENSP00000378746:W921L;ENSP00000362186:W921L;ENSP00000362189:W921L;ENSP00000355040:W921L;ENSP00000362180:W921L;ENSP00000423762:W921L;ENSP00000355105:W921L;ENSP00000384758:W921L;ENSP00000298274:W921L	ENSP00000298274:W921L	W	+	2	0	PCDH11X	91020657	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	9.114000	0.94329	2.127000	0.65507	0.600000	0.82982	TGG		0.448	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		6	128	6	128	---	---	---	---	T	91134001	G	T	91134001	3	4	72	1	0	0	0	0	1	0	0	0	11508	1357	47	1	2768	1	PCDH11X	23	91134001	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	21583895	91134001	64136559	173	3549										
AGRN	375790	broad.mit.edu	37	chr1	970664	970664	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttcttccagataaaccCgggacccacttcactccagt	6	14	2	1	rs148157593	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.chr1:970664C>A	ENST00000379370.2	+	3	521	c.471C>A	c.(469-471)ccC>ccA	p.P157P	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				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)	p.P157P(1)		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)		CAGATAAACCCGGGACCCACT	0.617																																						ENST00000379370.2																			1	Substitution - coding silent(1)	p.P157P(1)	lung(1)	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.(469-471)ccC>ccA		agrin							139	148	145					1																	970664		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:970664C>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.471C>A	1.37:g.970664C>A			Somatic				AGRN_ENST00000477585.1_3'UTR	p.P157P	NM_198576.3	NP_940978.2	WXS	Illumina GAIIx	Phase_I	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)	3	521	+	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)	157			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.471C>A	CCDS30551.1																																																																																				0.617	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		6	209	6	209	---	---	---	---	A	970664	C	A	970664	2	1	73	1	0	0	0	0	0	0	0	1	397	639	23	1		1	AGRN	1	970664	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		970664	248279957	1	3550										
CDK11A	728642	broad.mit.edu	37	chr1	1650857	1650857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttccgagacatttgctGgggtggtttgatggccaaag	13	7	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.chr1:1650857G>T	ENST00000378633.1	-	4	344	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000356200.3_Missense_Mutation_p.Q55K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	89	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GACATTTGCTGGGGTGGTTTG	0.418																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(163-165)Cag>Aag		cyclin-dependent kinase 11A							252	241	244					1																	1650857		1908	4116	6024	SO:0001583	missense	728642							g.chr1:1650857G>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.265C>A	1.37:g.1650857G>T	ENSP00000367900:p.Gln89Lys		Somatic				CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q89K|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K|RP1-283E3.8_ENST00000598846.1_RNA	p.Q55K			WXS	Illumina GAIIx	Phase_I					3	397	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.163C>A		.	.	.	.	.	.	.	.	.	.	-	28.4	4.921162	0.92249	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29	5.3	5.3	0.74995	.	0.081216	0.50627	U	0.000116	T	0.16171	0.0389	L	0.34521	1.04	0.47905	D	0.999549	D;D;D;D;D;P;P;D;D;D;D	0.76494	0.988;0.985;0.999;0.972;0.982;0.811;0.891;0.997;0.991;0.979;0.997	P;P;D;P;D;P;P;D;D;P;D	0.74348	0.843;0.794;0.978;0.615;0.968;0.879;0.867;0.972;0.977;0.64;0.983	T	0.06058	-1.0848	10	0.29301	T	0.29	.	17.9833	0.89148	0.0:0.0:1.0:0.0	.	89;89;89;89;89;89;55;89;89;55;89	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	K	55;89;89;89;89;55;55;89;89	ENSP00000348529:Q55K;ENSP00000384442:Q89K;ENSP00000350403:Q89K;ENSP00000351629:Q89K;ENSP00000367900:Q89K;ENSP00000367905:Q55K;ENSP00000367902:Q89K;ENSP00000423900:Q89K	ENSP00000348529:Q55K	Q	-	1	0	CDK11A	1640717	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.793000	0.91862	2.462000	0.83206	0.655000	0.94253	CAG		0.418	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		8	392	8	392	---	---	---	---	T	1650857	G	T	1650857	3	4	73	1	0	0	0	0	1	0	0	0	3126	1357	47	1	2145	1	CDK11A	1	1650857	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	680193	1650857	247599764	2	3551										
WDR8	49856	broad.mit.edu	37	chr1	3548782	3548782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcagcacaactgaccgttcCttgtcgccaggaagtagctg	11	12	1	1	rs201901411		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.chr1:3548782C>A	ENST00000270708.7	-	10	1116	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	WRAP73_ENST00000378322.3_Missense_Mutation_p.R348M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	348						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGACCGTTCCTTGTCGCCAG	0.512																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1042-1044)aGg>aTg		WD repeat containing, antisense to TP73							248	225	233					1																	3548782		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3548782C>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.1043G>T	1.37:g.3548782C>A	ENSP00000270708:p.Arg348Met		Somatic				WRAP73_ENST00000270708.7_Missense_Mutation_p.R348M	p.R348M			WXS	Illumina GAIIx	Phase_I	Q9P2S5	WRP73_HUMAN			10	1101	-			348					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.1043G>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	7.124	0.578480	0.13686	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.53640	0.61;0.61;0.61	4.94	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.195146	0.52532	D	0.000064	T	0.46073	0.1374	M	0.77103	2.36	0.20403	N	0.99991	B;B	0.24721	0.014;0.11	B;B	0.26310	0.031;0.068	T	0.46582	-0.9181	10	0.56958	D	0.05	-34.0522	7.7253	0.28757	0.0:0.5826:0.0:0.4174	.	348;303	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	348;348;303	ENSP00000270708:R348M;ENSP00000367573:R348M;ENSP00000416192:R303M	ENSP00000270708:R348M	R	-	2	0	WRAP73	3538642	1.000000	0.71417	0.001000	0.08648	0.091000	0.18340	1.522000	0.35921	0.501000	0.28013	0.655000	0.94253	AGG		0.512	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			6	131	6	131	---	---	---	---	A	3548782	C	A	3548782	3	1	73	1	0	0	0	0	1	0	0	0	17326	681	24	1	351	1	WDR8	1	3548782	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1897925	3548782	245701839	3	3552										
CCDC27	148870	broad.mit.edu	37	chr1	3670749	3670749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaacttcgaagggtcttccCcacgcatcctgactgccccc	9	17	1	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.chr1:3670749C>A	ENST00000294600.2	+	2	470	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	129										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGGTCTTCCCCACGCATCCT	0.587																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(385-387)cCc>cAc		coiled-coil domain containing 27							143	138	140					1																	3670749		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3670749C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.386C>A	1.37:g.3670749C>A	ENSP00000294600:p.Pro129His		Somatic					p.P129H	NM_152492.2	NP_689705.2	WXS	Illumina GAIIx	Phase_I	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	2	470	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	129					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.386C>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051817	0.08291	.	.	ENSG00000162592	ENST00000294600	T	0.18174	2.23	3.48	2.36	0.29203	.	0.243123	0.21611	N	0.071782	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	P	0.45449	0.481	T	0.12192	-1.0557	10	0.66056	D	0.02	-13.5851	5.2413	0.15473	0.0:0.136:0.0:0.864	.	129	Q2M243	CCD27_HUMAN	H	129	ENSP00000294600:P129H	ENSP00000294600:P129H	P	+	2	0	CCDC27	3660609	0.051000	0.20477	0.040000	0.18447	0.005000	0.04900	1.923000	0.40055	0.723000	0.32274	-0.320000	0.08662	CCC		0.587	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	171	8	171	---	---	---	---	A	3670749	C	A	3670749	3	1	73	1	0	0	0	0	1	0	0	0	2801	623	22	1	392	1	CCDC27	1	3670749	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	121967	3670749	245579872	4	3553										
ZBTB48	3104	broad.mit.edu	37	chr1	6648255	6648255	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaagaccttccgaacccaAggtgaggtacgccctgcccc	11	16	0	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.(1513-1515)caA>caT		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			Somatic					p.Q505H	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	WXS	Illumina GAIIx	Phase_I	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.1515A>T	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	19	34	---	---	---	---	T	6648255	A	T	6648255	5	4	73	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	2977506	6648255	242602366	5	3554										
KIF1B	23095	broad.mit.edu	37	chr1	10421013	10421013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaccgctttgaggctgtgtGggatagctctctgcataact	11	10	1	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.chr1:10421013G>T	ENST00000377086.1	+	39	4284	c.4082G>T	c.(4081-4083)tGg>tTg	p.W1361L	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L			O60333	KIF1B_HUMAN	kinesin family member 1B	1361					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)		GAGGCTGTGTGGGATAGCTCT	0.483																																						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.(4081-4083)tGg>tTg		kinesin family member 1B							225	182	197					1																	10421013		2203	4300	6503	SO:0001583	missense	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.chr1:10421013G>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.4082G>T	1.37:g.10421013G>T	ENSP00000366290:p.Trp1361Leu		Somatic				KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L	p.W1361L			WXS	Illumina GAIIx	Phase_I	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)	39	4284	+	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)	1361					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4082G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.329879	0.95733	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.87809	-2.12;-2.3;-2.3	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.91510	3.215	0.80722	D	1	P;D;P;D;P;D	0.89917	0.951;1.0;0.784;0.996;0.698;0.981	P;D;P;D;P;D	0.91635	0.825;0.999;0.639;0.977;0.451;0.954	D	0.95704	0.8752	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	1347;1321;1361;1335;1361;1315	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1361;1315;1361;1361	ENSP00000263934:W1315L;ENSP00000366290:W1361L;ENSP00000366284:W1361L	ENSP00000263934:W1315L	W	+	2	0	KIF1B	10343600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.712000	0.92718	0.561000	0.74099	TGG		0.483	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	132	6	132	---	---	---	---	T	10421013	G	T	10421013	3	4	73	1	0	0	0	0	1	0	0	0	8284	1357	47	1	5575	1	KIF1B	1	10421013	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3772758	10421013	238829608	6	3555										
EXOSC10	5394	broad.mit.edu	37	chr1	11159800	11159800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacaaagctgtcggcgtccGggaagcctggcagcaccatc	12	14	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.chr1:11159800G>T	ENST00000376936.4	-	1	138	c.89C>A	c.(88-90)cCg>cAg	p.P30Q	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P30Q|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000447600.1_RNA|RP4-635E18.6_ENST00000435388.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	30					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)		GTCGGCGTCCGGGAAGCCTGG	0.677																																					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.(88-90)cCg>cAg		exosome component 10							35	40	39					1																	11159800		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.chr1:11159800G>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.89C>A	1.37:g.11159800G>T	ENSP00000366135:p.Pro30Gln		Somatic				RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000435388.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q	p.P30Q			WXS	Illumina GAIIx	Phase_I	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)	1	94	-	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)	30					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.89C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390657	0.42410	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.21	3.17	0.36434	.	0.732764	0.13937	N	0.352468	T	0.30135	0.0755	L	0.40543	1.245	0.27566	N	0.950034	B;B	0.30542	0.284;0.06	B;B	0.28011	0.085;0.024	T	0.17471	-1.0368	9	0.40728	T	0.16	-15.0891	5.5505	0.17087	0.1044:0.0:0.6173:0.2784	.	30;30	Q01780-2;Q01780	.;EXOSX_HUMAN	Q	30	.	ENSP00000307307:P30Q	P	-	2	0	EXOSC10	11082387	0.820000	0.29190	0.998000	0.56505	0.513000	0.34164	0.614000	0.24314	1.196000	0.43129	-0.439000	0.05793	CCG		0.677	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		4	52	4	52	---	---	---	---	T	11159800	G	T	11159800	3	4	73	1	0	0	0	0	1	0	0	0	5314	1116	39	1	2668	1	EXOSC10	1	11159800	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	738787	11159800	238090821	7	3556										
PRDM2	7799	broad.mit.edu	37	chr1	14107222	14107222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcccctccaccctgtcccCcggtattaactgttgccact	5	19	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.chr1:14107222C>A	ENST00000235372.7	+	8	3788	c.2932C>A	c.(2932-2934)Ccg>Acg	p.P978T	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.				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)		ACCCTGTCCCCCGGTATTAAC	0.607																																						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.(2932-2934)Ccg>Acg		PR domain containing 2, with ZNF domain							128	122	124					1																	14107222		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.chr1:14107222C>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.2932C>A	1.37:g.14107222C>A	ENSP00000235372:p.Pro978Thr		Somatic				PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	p.P978T	NM_012231.4	NP_036363.2	WXS	Illumina GAIIx	Phase_I	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	3788	+	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)	978			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2932C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027740	0.35797	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01854	4.75;4.6;4.62;4.62	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.03739	0.0106	M	0.63428	1.95	0.40206	D	0.977572	P;P;P	0.37731	0.473;0.473;0.607	B;B;B	0.34652	0.091;0.091;0.187	T	0.45249	-0.9274	10	0.42905	T	0.14	.	12.33	0.55033	0.0:0.9227:0.0:0.0773	.	836;978;978	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	T	978;978;978;777;777	ENSP00000235372:P978T;ENSP00000312352:P978T;ENSP00000411103:P777T;ENSP00000341621:P777T	ENSP00000235372:P978T	P	+	1	0	PRDM2	13979809	0.020000	0.18652	0.997000	0.53966	0.955000	0.61496	2.295000	0.43576	2.837000	0.97791	0.655000	0.94253	CCG		0.607	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	133	6	133	---	---	---	---	A	14107222	C	A	14107222	3	1	73	1	0	0	0	0	1	0	0	0	12458	623	22	1	2958	1	PRDM2	1	14107222	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2947422	14107222	235143399	8	3557										
ARHGEF19	128272	broad.mit.edu	37	chr1	16534231	16534231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggccgcgacacccggtcccCgctcatctctacacttcgag	9	18	2	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.chr1:16534231C>A	ENST00000270747.3	-	4	872	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	246					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)		ACCCGGTCCCCGCTCATCTCT	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(736-738)Ggg>Tgg		Rho guanine nucleotide exchange factor (GEF) 19							51	55	53					1																	16534231		2203	4299	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534231C>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.736G>T	1.37:g.16534231C>A	ENSP00000270747:p.Gly246Trp		Somatic					p.G246W	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	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	872	-		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)	246					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.736G>T	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109418	0.37242	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.70749	-0.51;1.87	5.06	-1.83	0.07833	.	2.067370	0.02821	N	0.125595	T	0.47322	0.1439	N	0.08118	0	0.09310	N	1	P	0.40619	0.724	B	0.34779	0.189	T	0.39210	-0.9625	10	0.37606	T	0.19	.	6.5516	0.22438	0.1154:0.5224:0.0:0.3623	.	246	Q8IW93	ARHGJ_HUMAN	W	246	ENSP00000270747:G246W;ENSP00000396001:G246W	ENSP00000270747:G246W	G	-	1	0	ARHGEF19	16406818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.287000	0.08388	-1.154000	0.02825	-1.134000	0.01955	GGG		0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	76	4	76	---	---	---	---	A	16534231	C	A	16534231	3	1	73	1	0	0	0	0	1	0	0	0	902	652	23	1	1724	1	ARHGEF19	1	16534231	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2427009	16534231	232716390	9	3558										
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023820	18023820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcagtgggaggcaggcccCgtgtggggagacggacagca	19	10	0	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.chr1:18023820C>A	ENST00000361221.3	+	29	3944	c.3785C>A	c.(3784-3786)cCg>cAg	p.P1262Q	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1262						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)		AGGCAGGCCCCGTGTGGGGAG	0.657																																						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.(3784-3786)cCg>cAg		Rho guanine nucleotide exchange factor (GEF) 10-like							49	47	48					1																	18023820		2172	4262	6434	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023820C>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.3785C>A	1.37:g.18023820C>A	ENSP00000355060:p.Pro1262Gln		Somatic				ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q	p.P1262Q	NM_018125.3	NP_060595	WXS	Illumina GAIIx	Phase_I	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)	29	3944	+		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)	1262					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3785C>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	5.533	0.283291	0.10458	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.58506	0.6;0.61;0.61;0.33;2.6	5.0	2.75	0.32379	.	0.478374	0.20211	N	0.096881	T	0.46347	0.1388	L	0.44542	1.39	0.09310	N	1	B;P;B;B;B;B	0.42039	0.362;0.769;0.242;0.288;0.284;0.187	B;B;B;B;B;B	0.42827	0.206;0.399;0.118;0.136;0.107;0.049	T	0.23476	-1.0187	10	0.27785	T	0.31	-15.3033	5.7986	0.18401	0.0:0.6328:0.1646:0.2026	.	1035;965;1023;1218;1223;1262	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	Q	1262;1223;1223;1035;965	ENSP00000355060:P1262Q;ENSP00000399401:P1223Q;ENSP00000364564:P1223Q;ENSP00000364557:P1035Q;ENSP00000167825:P965Q	ENSP00000167825:P965Q	P	+	2	0	ARHGEF10L	17896407	0.007000	0.16637	0.975000	0.42487	0.541000	0.35023	1.046000	0.30354	1.084000	0.41184	0.655000	0.94253	CCG		0.657	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	98	5	98	---	---	---	---	A	18023820	C	A	18023820	3	1	73	1	0	0	0	0	1	0	0	0	895	652	23	1	3895	1	ARHGEF10L	1	18023820	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1489589	18023820	231226801	10	3559										
UBR4	23352	broad.mit.edu	37	chr1	19436655	19436655	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagatcctcaggcacatgaGggtaatgttttcaaccacca	8	11	2	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.chr1:19436655G>T	ENST00000375254.3	-	81	12067	c.12040C>A	c.(12040-12042)Ctc>Atc	p.L4014I	UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I|UBR4_ENST00000375267.2_Missense_Mutation_p.L4014I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4014					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)		AGGCACATGAGGGTAATGTTT	0.498																																						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.(12040-12042)Ctc>Atc		ubiquitin protein ligase E3 component n-recognin 4							109	102	104					1																	19436655		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.chr1:19436655G>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.12040C>A	1.37:g.19436655G>T	ENSP00000364403:p.Leu4014Ile		Somatic				UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375254.3_Missense_Mutation_p.L4014I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I	p.L4014I			WXS	Illumina GAIIx	Phase_I	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)	81	12043	-		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)	4014					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.12040C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564313	0.65651	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.73962	2.25	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.77675	-0.2499	10	0.62326	D	0.03	.	12.1834	0.54223	0.078:0.0:0.922:0.0	.	4014	Q5T4S7	UBR4_HUMAN	I	4014;4014;4007;3990	ENSP00000364403:L4014I;ENSP00000364416:L4014I;ENSP00000364365:L4007I;ENSP00000364374:L3990I	ENSP00000364365:L4007I	L	-	1	0	UBR4	19309242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.793000	0.96121	0.655000	0.94253	CTC		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	96	5	96	---	---	---	---	T	19436655	G	T	19436655	3	4	73	1	0	0	0	0	1	0	0	0	16901	1000	35	1	3615	1	UBR4	1	19436655	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1412835	19436655	229813966	11	3560										
MAP3K6	9064	broad.mit.edu	37	chr1	27690833	27690833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcatcaccacacagcaccCgaccagtggccgtcaccaca	7	19	2	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.chr1:27690833C>A	ENST00000493901.1	-	5	796	c.557G>T	c.(556-558)cGg>cTg	p.R186L	MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L|MAP3K6_ENST00000374040.3_Missense_Mutation_p.R178L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					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)		ACACAGCACCCGACCAGTGGC	0.652																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(532-534)cGg>cTg		mitogen-activated protein kinase kinase kinase 6							85	84	85					1																	27690833		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27690833C>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.557G>T	1.37:g.27690833C>A	ENSP00000419591:p.Arg186Leu		Somatic				MAP3K6_ENST00000493901.1_Missense_Mutation_p.R186L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L	p.R178L			WXS	Illumina GAIIx	Phase_I	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)	3	793	-		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)	186					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.533G>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404730	0.83230	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.09630	2.96;2.96;2.96	5.82	4.91	0.64330	.	.	.	.	.	T	0.07548	0.0190	L	0.29908	0.895	0.35585	D	0.806565	P;P	0.41597	0.712;0.756	B;B	0.36092	0.138;0.217	T	0.35375	-0.9791	9	0.36615	T	0.2	.	8.1847	0.31333	0.0:0.7877:0.0:0.2123	.	178;186	O95382-3;O95382	.;M3K6_HUMAN	L	178;186;186	ENSP00000363152:R178L;ENSP00000419591:R186L;ENSP00000350195:R186L	ENSP00000350195:R186L	R	-	2	0	MAP3K6	27563420	0.998000	0.40836	0.987000	0.45799	0.987000	0.75469	2.594000	0.46189	1.470000	0.48102	0.655000	0.94253	CGG		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		4	89	4	89	---	---	---	---	A	27690833	C	A	27690833	3	1	73	1	0	0	0	0	1	0	0	0	9254	652	23	1	3413	1	MAP3K6	1	27690833	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8254178	27690833	221559788	12	3561										
SMPDL3B	27293	broad.mit.edu	37	chr1	28285189	28285189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtcagctactctgctgGggtctgcgacgaggcctgca	13	13	4	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.chr1:28285189G>T	ENST00000373894.3	+	8	1399	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|XKR8_ENST00000373884.5_5'Flank|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	403					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)		TACTCTGCTGGGGTCTGCGAC	0.617																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1207-1209)gGg>gTg		sphingomyelin phosphodiesterase, acid-like 3B							100	87	91					1																	28285189		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285189G>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.1208G>T	1.37:g.28285189G>T	ENSP00000363001:p.Gly403Val		Somatic				SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|RP11-460I13.2_ENST00000448015.1_RNA	p.G403V	NM_014474.2	NP_055289.2	WXS	Illumina GAIIx	Phase_I	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	1399	+		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)	403					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.1208G>T	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	3.139	-0.176753	0.06380	.	.	ENSG00000130768	ENST00000373894;ENST00000549094;ENST00000412515	D;D	0.88277	-2.36;-2.36	4.98	-9.96	0.00443	.	5.071980	0.00397	N	0.000041	T	0.79112	0.4391	L	0.34521	1.04	0.09310	N	1	B;B	0.31485	0.325;0.218	B;B	0.29862	0.108;0.035	T	0.68070	-0.5506	10	0.31617	T	0.26	10.4297	4.8422	0.13496	0.2657:0.4576:0.0902:0.1865	.	355;403	F8VWW8;Q92485	.;ASM3B_HUMAN	V	403;355;329	ENSP00000363001:G403V;ENSP00000449450:G355V	ENSP00000363001:G403V	G	+	2	0	SMPDL3B	28157776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.124000	0.00149	-5.014000	0.00024	-0.305000	0.09177	GGG		0.617	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		7	121	7	121	---	---	---	---	T	28285189	G	T	28285189	3	4	73	1	0	0	0	0	1	0	0	0	14809	1232	43	1	1355	1	SMPDL3B	1	28285189	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	594356	28285189	220965432	13	3562										
KIAA0319L	79932	broad.mit.edu	37	chr1	35916055	35916055	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagctctgctgtgctcgtGggtagggtaatcaccacatt	11	11	2	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.chr1:35916055G>T	ENST00000325722.3	-	14	2352	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.P143P	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	706	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)				CTGTGCTCGTGGGTAGGGTAA	0.458																																						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.(2116-2118)ccC>ccA		KIAA0319-like							145	124	131					1																	35916055		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916055G>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.2118C>A	1.37:g.35916055G>T			Somatic				KIAA0319L_ENST00000373266.4_Silent_p.P143P|KIAA0319L_ENST00000485551.1_5'UTR	p.P706P	NM_024874.4	NP_079150.3	WXS	Illumina GAIIx	Phase_I	Q8IZA0	K319L_HUMAN			14	2352	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	706			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2118C>A	CCDS390.1																																																																																				0.458	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		5	104	5	104	---	---	---	---	T	35916055	G	T	35916055	2	4	73	1	0	0	0	0	0	0	0	1	8169	1335	47	1		1	KIAA0319L	1	35916055	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	7630866	35916055	213334566	14	3563										
GRIK3	2899	broad.mit.edu	37	chr1	37499693	37499693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaccagactccggaggcgcCgccagggagcggtcatcgtt	14	13	1	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.chr1:37499693C>A	ENST00000373091.3	-	1	33	c.17G>T	c.(16-18)cGg>cTg	p.R6L	GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	6					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)				CCGGAGGCGCCGCCAGGGAGC	0.751																																						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.(16-18)cGg>cTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						8	10	9					1																	37499693		2144	4211	6355	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.chr1:37499693C>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.17G>T	1.37:g.37499693C>A	ENSP00000362183:p.Arg6Leu		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	p.R6L	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			1	33	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	6					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.17G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006481	0.35415	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12039	2.77;2.72	3.71	3.71	0.42584	.	0.140233	0.29459	N	0.012081	T	0.06781	0.0173	N	0.08118	0	0.32146	N	0.584852	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08006	-1.0743	10	0.33940	T	0.23	.	9.355	0.38161	0.0:0.7801:0.2199:0.0	.	6;6	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	6	ENSP00000362183:R6L;ENSP00000362185:R6L	ENSP00000362183:R6L	R	-	2	0	GRIK3	37272280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.159000	0.31749	1.631000	0.50456	0.400000	0.26472	CGG		0.751	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	16	3	16	---	---	---	---	A	37499693	C	A	37499693	3	1	73	1	0	0	0	0	1	0	0	0	6775	652	23	1	2806	1	GRIK3	1	37499693	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1583638	37499693	211750928	15	3564										
ZNF643	65243	broad.mit.edu	37	chr1	40928286	40928286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgggtaaggggcaaatcccCctgatgtgcaagaaaacatt	11	8	0	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.chr1:40928286C>A	ENST00000411995.2	+	6	1005	c.630C>A	c.(628-630)ccC>ccA	p.P210P	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Silent_p.P108P	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	210					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)										GGCAAATCCCCCTGATGTGCA	0.413																																						ENST00000411995.2																			0											c.(628-630)ccC>ccA		ZFP69 zinc finger protein B							120	131	128					1																	40928286		2203	4300	6503	SO:0001819	synonymous_variant	65243							g.chr1:40928286C>A	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.630C>A	1.37:g.40928286C>A			Somatic				ZFP69B_ENST00000361584.3_Silent_p.P108P|ZFP69B_ENST00000484445.1_3'UTR	p.P210P	NM_023070.2	NP_075558.2	WXS	Illumina GAIIx	Phase_I					6	1005	+								Q5QPL4	Silent	SNP	ENST00000411995.2	37	c.630C>A	CCDS452.2																																																																																				0.413	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	148	6	148	---	---	---	---	A	40928286	C	A	40928286	2	1	73	1	0	0	0	0	0	0	0	1	18056	610	22	1		1	ZNF643	1	40928286	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3428593	40928286	208322335	16	3565										
KIAA0467	23334	broad.mit.edu	37	chr1	43902871	43902871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgatgagagctgtgcgcccCgtgggtacctggcagccaca	14	13	0	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.chr1:43902871C>A	ENST00000562955.1	+	42	5893	c.5893C>A	c.(5893-5895)Cgt>Agt	p.R1965S	SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2022					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						CTGTGCGCCCCGTGGGTACCT	0.572																																						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.(5893-5895)Cgt>Agt		seizure threshold 2 homolog (mouse)							115	113	114					1																	43902871		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902871C>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.5893C>A	1.37:g.43902871C>A	ENSP00000457168:p.Arg1965Ser		Somatic				SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	p.R1965S	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			42	5893	+			2022					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5893C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862934	0.51482	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.40543	1.245	0.25735	N	0.985221	D	0.89917	1.0	D	0.81914	0.995	T	0.54990	-0.8210	9	0.52906	T	0.07	.	14.9626	0.71169	0.1427:0.8573:0.0:0.0	.	1965	Q5T011-5	.	S	1123	.	ENSP00000361519:R1123S	R	+	1	0	SZT2	43675458	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.326000	0.43849	2.775000	0.95449	0.655000	0.94253	CGT		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		7	120	7	120	---	---	---	---	A	43902871	C	A	43902871	3	1	73	1	0	0	0	0	1	0	0	0	8178	652	23	1	3469	1	KIAA0467	1	43902871	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2974585	43902871	205347750	17	3566										
DMAP1	55929	broad.mit.edu	37	chr1	44680396	44680396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgcacccccactgctaccCagtgacactggccagggata	10	15	0	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.chr1:44680396C>A	ENST00000372289.2	+	3	482	c.219C>A	c.(217-219)ccC>ccA	p.P73P	DMAP1_ENST00000361745.6_Silent_p.P73P|DMAP1_ENST00000315913.5_Silent_p.P73P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	73					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)					CACTGCTACCCAGTGACACTG	0.567																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(217-219)ccC>ccA		DNA methyltransferase 1 associated protein 1							90	82	85					1																	44680396		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:44680396C>A	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.219C>A	1.37:g.44680396C>A			Somatic				DMAP1_ENST00000315913.5_Silent_p.P73P|DMAP1_ENST00000361745.6_Silent_p.P73P	p.P73P	NM_019100.4	NP_061973.1	WXS	Illumina GAIIx	Phase_I	Q9NPF5	DMAP1_HUMAN			3	482	+	Acute lymphoblastic leukemia(166;0.155)		73					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.219C>A	CCDS509.1																																																																																				0.567	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		5	65	5	65	---	---	---	---	A	44680396	C	A	44680396	2	1	73	1	0	0	0	0	0	0	0	1	4576	581	21	1		1	DMAP1	1	44680396	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	777525	44680396	204570225	18	3567										
TMEM69	51249	broad.mit.edu	37	chr1	46159036	46159036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagtgctatcatacatcccCctgcagctttaaaaagcagc	6	13	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.chr1:46159036C>A	ENST00000372025.4	+	3	1360	c.203C>A	c.(202-204)cCc>cAc	p.P68H	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	68						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CATACATCCCCCTGCAGCTTT	0.468																																						ENST00000372025.4																			0				kidney(3)|lung(4)|ovary(1)	8						c.(202-204)cCc>cAc		transmembrane protein 69							234	233	233					1																	46159036		1962	4154	6116	SO:0001583	missense	51249					integral to membrane		g.chr1:46159036C>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.203C>A	1.37:g.46159036C>A	ENSP00000361095:p.Pro68His		Somatic				TMEM69_ENST00000496366.1_3'UTR	p.P68H	NM_016486.3	NP_057570.2	WXS	Illumina GAIIx	Phase_I	Q5SWH9	TMM69_HUMAN			3	1360	+	Acute lymphoblastic leukemia(166;0.155)		68					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.203C>A	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873813	0.51695	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.92	4.0	0.46444	.	0.435086	0.26944	N	0.021702	T	0.34687	0.0906	L	0.32530	0.975	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.11275	-1.0594	9	0.52906	T	0.07	-10.2547	6.3581	0.21412	0.1457:0.6704:0.0:0.1839	.	68	Q5SWH9	TMM69_HUMAN	H	68	.	ENSP00000361095:P68H	P	+	2	0	TMEM69	45931623	0.000000	0.05858	0.992000	0.48379	0.891000	0.51852	0.123000	0.15708	1.524000	0.49035	0.561000	0.74099	CCC		0.468	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		10	407	10	407	---	---	---	---	A	46159036	C	A	46159036	3	1	73	1	0	0	0	0	1	0	0	0	16195	623	22	1	209	1	TMEM69	1	46159036	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1478640	46159036	203091585	19	3568										
FAAH	2166	broad.mit.edu	37	chr1	46874198	46874198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactataccatgccctcccCggccatgaggcgggccgtgc	11	17	0	1	rs202117973		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.chr1:46874198C>A	ENST00000243167.8	+	8	1103	c.1019C>A	c.(1018-1020)cCg>cAg	p.P340Q	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340					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)	ATGCCCTCCCCGGCCATGAGG	0.617																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1018-1020)cCg>cAg		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						181	191	188					1																	46874198		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.chr1:46874198C>A	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.1019C>A	1.37:g.46874198C>A	ENSP00000243167:p.Pro340Gln		Somatic				FAAH_ENST00000493735.1_3'UTR	p.P340Q	NM_001441.2	NP_001432.2	WXS	Illumina GAIIx	Phase_I	O00519	FAAH1_HUMAN			8	1103	+	Acute lymphoblastic leukemia(166;0.155)		340					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.1019C>A	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214618	0.95104	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.69175	-0.38	5.4	5.4	0.78164	Amidase signature domain (2);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91307	0.5071	10	0.87932	D	0	-12.4092	19.1897	0.93660	0.0:1.0:0.0:0.0	.	340	O00519	FAAH1_HUMAN	Q	340;47	ENSP00000243167:P340Q	ENSP00000243167:P340Q	P	+	2	0	FAAH	46646785	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.463000	0.80869	2.548000	0.85928	0.655000	0.94253	CCG		0.617	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		8	298	8	298	---	---	---	---	A	46874198	C	A	46874198	3	1	73	1	0	0	0	0	1	0	0	0	5353	652	23	1	1049	1	FAAH	1	46874198	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	715162	46874198	202376423	20	3569										
CYP4X1	260293	broad.mit.edu	37	chr1	47514236	47514236	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttatttccctcctttcttaGggatcaccgtggttcttagt	7	10	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.chr1:47514236G>T	ENST00000371901.3	+	10	1457		c.e10-1		CYP4X1_ENST00000538609.1_Splice_Site	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1							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						TCCTTTCTTAGGGATCACCGT	0.428																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.e10-1		cytochrome P450, family 4, subfamily X, polypeptide 1							211	227	221					1																	47514236		2203	4300	6503	SO:0001630	splice_region_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47514236G>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.1208-1G>T	1.37:g.47514236G>T			Somatic				CYP4X1_ENST00000538609.1_Splice_Site		NM_178033.1	NP_828847.1	WXS	Illumina GAIIx	Phase_I	Q8N118	CP4X1_HUMAN			10	1457	+								G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Splice_Site	SNP	ENST00000371901.3	37		CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960634	0.34565	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6467	0.91413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4X1	47286823	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	7.885000	0.87282	2.711000	0.92665	0.655000	0.94253	.		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	Intron	8	334	8	334	---	---	---	---	T	47514236	G	T	47514236	5	4	73	1	0	0	0	0	0	0	1	0	4193	1014	35	1	1245	1	CYP4X1	1	47514236	Splice_Site	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	640038	47514236	201736385	21	3570										
ELAVL4	1996	broad.mit.edu	37	chr1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcagagaaagccatcaacaCtttaaatggactcagactcc	7	11	2	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_ENST00000371819.1_Missense_Mutation_p.T111I|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371824.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I	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		Somatic				ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I	p.T106I			WXS	Illumina GAIIx	Phase_I	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	22	47	---	---	---	---	T	50642827	C	T	50642827	3	4	73	1	0	0	0	0	1	0	0	0	5052	565	20	2	426	2	ELAVL4	1	50642827	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3128591	50642827	198607794	22	3571										
LRP8	7804	broad.mit.edu	37	chr1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgttgttttcctgtagactGggttgtcaaaattcatgctt	9	7	2	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.chr1:53716447G>T	ENST00000306052.6	-	17	2692	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q|LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	864					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						CCTGTAGACTGGGTTGTCAAA	0.463																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2590-2592)cCa>cAa		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							345	287	307					1																	53716447		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.chr1:53716447G>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.2591C>A	1.37:g.53716447G>T	ENSP00000303634:p.Pro864Gln		Somatic				LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q	p.P864Q	NM_004631.4	NP_004622.2	WXS	Illumina GAIIx	Phase_I	Q14114	LRP8_HUMAN			17	2692	-			864					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.2591C>A	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138170	0.94560	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.41	5.41	0.78517	.	.	.	.	.	T	0.59418	0.2192	M	0.86805	2.84	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;1.0;0.997;1.0;1.0	T	0.66670	-0.5865	9	0.87932	D	0	.	19.1903	0.93663	0.0:0.0:1.0:0.0	.	417;660;694;864;864;417	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	Q	864;864;417;660;694	ENSP00000303634:P864Q;ENSP00000360509:P864Q;ENSP00000437009:P417Q;ENSP00000346391:P660Q;ENSP00000334522:P694Q	ENSP00000303634:P864Q	P	-	2	0	LRP8	53489035	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	9.855000	0.99526	2.524000	0.85096	0.557000	0.71058	CCA		0.463	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	80	5	80	---	---	---	---	T	53716447	G	T	53716447	3	4	73	1	0	0	0	0	1	0	0	0	8963	1348	47	1	312	1	LRP8	1	53716447	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3073620	53716447	195534174	23	3572										
CACHD1	57685	broad.mit.edu	37	chr1	65138882	65138882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggttatctggtggcgcaccCgactctcatcgaccccaaag	11	14	2	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.chr1:65138882C>A	ENST00000371073.2	+	18	2552	c.2552C>A	c.(2551-2553)cCg>cAg	p.P851Q	CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	851	Cache 2.				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						GTGGCGCACCCGACTCTCATC	0.483																																						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.(2551-2553)cCg>cAg		cache domain containing 1							190	196	194					1																	65138882		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65138882C>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.2552C>A	1.37:g.65138882C>A	ENSP00000360113:p.Pro851Gln		Somatic				CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR	p.P851Q			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			18	2552	+			851			Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2552C>A		.	.	.	.	.	.	.	.	.	.	C	18.93	3.727715	0.69074	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.63	5.75	5.75	0.90469	Cache (1);	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56811	-0.7917	10	0.72032	D	0.01	-16.8633	19.949	0.97192	0.0:1.0:0.0:0.0	.	851	Q5VU97	CAHD1_HUMAN	Q	851;800	ENSP00000360113:P851Q;ENSP00000290039:P800Q	ENSP00000290039:P800Q	P	+	2	0	CACHD1	64911470	1.000000	0.71417	0.965000	0.40720	0.144000	0.21451	7.380000	0.79704	2.706000	0.92434	0.655000	0.94253	CCG		0.483	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	207	5	207	---	---	---	---	A	65138882	C	A	65138882	3	1	73	1	0	0	0	0	1	0	0	0	2537	652	23	1	2469	1	CACHD1	1	65138882	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	11422435	65138882	184111739	24	3573										
WDR78	79819	broad.mit.edu	37	chr1	67313297	67313297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgcatctgagtggtcttcCtcatcttcatggatttttgc	8	9	5	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.chr1:67313297C>A	ENST00000371026.3	-	8	1216	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	387					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGTGGTCTTCCTCATCTTCAT	0.308																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1159-1161)gaG>gaT		WD repeat domain 78							84	86	85					1																	67313297		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67313297C>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.1161G>T	1.37:g.67313297C>A	ENSP00000360065:p.Glu387Asp		Somatic				WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	p.E387D	NM_024763.4	NP_079039.4	WXS	Illumina GAIIx	Phase_I	Q5VTH9	WDR78_HUMAN			8	1216	-			387					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1161G>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292666	0.23564	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.69175	0.28;-0.35;-0.38;2.01	5.03	0.85	0.18980	.	0.161679	0.37304	N	0.002160	T	0.40094	0.1103	M	0.69823	2.125	0.31409	N	0.675731	B;B;B	0.14805	0.008;0.011;0.005	B;B;B	0.16289	0.015;0.014;0.01	T	0.16689	-1.0394	10	0.44086	T	0.13	-32.1297	4.7374	0.12995	0.1343:0.2769:0.0:0.5888	.	133;387;387	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	D	387;133;153;387	ENSP00000360065:E387D;ENSP00000393182:E133D;ENSP00000433682:E153D;ENSP00000360062:E387D	ENSP00000360062:E387D	E	-	3	2	WDR78	67085885	0.981000	0.34729	0.997000	0.53966	0.569000	0.35902	0.100000	0.15231	0.228000	0.21019	0.455000	0.32223	GAG		0.308	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		5	68	5	68	---	---	---	---	A	67313297	C	A	67313297	3	1	73	1	0	0	0	0	1	0	0	0	17325	680	24	1	1482	1	WDR78	1	67313297	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2174415	67313297	181937324	25	3574										
LRRIQ3	127255	broad.mit.edu	37	chr1	74575235	74575235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttttgtggaaaaacacaGggctgaatataaggggaggg	14	3	0	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.chr1:74575235G>T	ENST00000395089.1	-	4	709	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P237H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									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						GAAAAACACAGGGCTGAATAT	0.318																																						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.(709-711)cCt>cAt		leucine-rich repeats and IQ motif containing 3							104	88	93					1																	74575235		1786	4051	5837	SO:0001583	missense	127255							g.chr1:74575235G>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.710C>A	1.37:g.74575235G>T	ENSP00000378524:p.Pro237His		Somatic				LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P237H	p.P237H	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			5	901	-			237			IQ.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.710C>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792260	0.16258	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.31769	3.03;3.03;1.48	3.83	-2.15	0.07102	.	40.222200	0.00357	N	0.000021	T	0.07683	0.0193	L	0.31294	0.92	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21042	-1.0257	10	0.27785	T	0.31	.	7.1473	0.25591	0.0991:0.0:0.2253:0.6756	.	237	A6PVS8	LRIQ3_HUMAN	H	237;237;129;237	ENSP00000378524:P237H;ENSP00000346414:P237H;ENSP00000359946:P129H	ENSP00000346414:P237H	P	-	2	0	LRRIQ3	74347823	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.532000	0.06164	-0.404000	0.07610	0.585000	0.79938	CCT		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	107	6	107	---	---	---	---	T	74575235	G	T	74575235	3	4	73	1	0	0	0	0	1	0	0	0	9030	1000	35	1	1180	1	LRRIQ3	1	74575235	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	7261938	74575235	174675386	26	3575										
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510163	77510163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccagcagctacatgcggcGggacggcaagggccaggtct	15	14	1	0	rs200875685		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.chr1:77510163G>T	ENST00000477717.1	+	3	771	c.536G>T	c.(535-537)cGg>cTg	p.R179L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	179					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACATGCGGCGGGACGGCAAG	0.602																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(535-537)cGg>cTg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							80	77	78					1																	77510163		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510163G>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.536G>T	1.37:g.77510163G>T	ENSP00000417583:p.Arg179Leu		Somatic					p.R179L	NM_030965.1	NP_112227.1	WXS	Illumina GAIIx	Phase_I	Q9BVH7	SIA7E_HUMAN			3	771	+			179					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.536G>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277218	0.95459	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30981	1.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.75777	2.31	0.80722	D	1	D	0.61697	0.99	D	0.65140	0.932	T	0.50457	-0.8826	10	0.56958	D	0.05	-19.0778	19.307	0.94167	0.0:0.0:1.0:0.0	.	179	Q9BVH7	SIA7E_HUMAN	L	179;89	ENSP00000417583:R179L	ENSP00000436263:R179L	R	+	2	0	ST6GALNAC5	77282751	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.634000	0.74290	2.543000	0.85770	0.655000	0.94253	CGG		0.602	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		5	114	5	114	---	---	---	---	T	77510163	G	T	77510163	3	4	73	1	0	0	0	0	1	0	0	0	15226	1116	39	1	546	1	ST6GALNAC5	1	77510163	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2934928	77510163	171740458	27	3576										
SYDE2	84144	broad.mit.edu	37	chr1	85655748	85655748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcatttttacctgcaaaaGgagatttcaacatgggactg	9	7	2	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.chr1:85655748G>T	ENST00000341460.5	-	2	1482	c.1433C>A	c.(1432-1434)cCt>cAt	p.P478H		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	478					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)		ACCTGCAAAAGGAGATTTCAA	0.343																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1432-1434)cCt>cAt		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							217	208	211					1																	85655748		1886	4101	5987	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85655748G>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.1433C>A	1.37:g.85655748G>T	ENSP00000340594:p.Pro478His		Somatic					p.P478H	NM_032184.1	NP_115560.1	WXS	Illumina GAIIx	Phase_I	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1482	-			478					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1433C>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	7.959	0.746560	0.15710	.	.	ENSG00000097096	ENST00000341460	T	0.06687	3.27	5.62	3.75	0.43078	.	0.464198	0.21703	N	0.070389	T	0.02727	0.0082	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37619	-0.9698	10	0.72032	D	0.01	.	6.6475	0.22943	0.0682:0.1299:0.667:0.1349	.	478;478	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	H	478	ENSP00000340594:P478H	ENSP00000340594:P478H	P	-	2	0	SYDE2	85428336	0.015000	0.18098	0.948000	0.38648	0.813000	0.45954	0.989000	0.29629	0.883000	0.36040	-0.175000	0.13238	CCT		0.343	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	169	6	169	---	---	---	---	T	85655748	G	T	85655748	3	4	73	1	0	0	0	0	1	0	0	0	15433	1000	35	1	2175	1	SYDE2	1	85655748	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8145585	85655748	163594873	28	3577										
WDR47	22911	broad.mit.edu	37	chr1	109538407	109538407	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggttgagtgctgatacctCattaccaaggccatccattc	8	12	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.chr1:109538407C>A	ENST00000369962.3	-	8	1708	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000357672.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*			O94967	WDR47_HUMAN	WD repeat domain 47	496					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)		GCTGATACCTCATTACCAAGG	0.353																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1402-1404)Gag>Tag		WD repeat domain 47							174	173	173					1																	109538407		2203	4296	6499	SO:0001587	stop_gained	22911							g.chr1:109538407C>A	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.1486G>T	1.37:g.109538407C>A	ENSP00000358979:p.Glu496*		Somatic				WDR47_ENST00000369962.3_Nonsense_Mutation_p.E496*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*	p.E468*			WXS	Illumina GAIIx	Phase_I	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)	7	1777	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	496			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.1402G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	40	7.933654	0.98568	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	.	.	.	5.53	5.53	0.82687	.	0.217616	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.1492	19.8113	0.96547	0.0:1.0:0.0:0.0	.	.	.	.	X	504;496;468;497;468	.	ENSP00000350301:E468X	E	-	1	0	WDR47	109339930	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	6.892000	0.75644	2.746000	0.94184	0.561000	0.74099	GAG		0.353	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		6	194	6	194	---	---	---	---	A	109538407	C	A	109538407	4	1	73	1	0	0	0	0	0	1	0	0	17297	835	29	3	1305	3	WDR47	1	109538407	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	23882659	109538407	139712214	29	3578										
CYB561D1	284613	broad.mit.edu	37	chr1	110037802	110037802	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtattcatggccttggcGgtgagtttaggcttctatct	11	9	3	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.chr1:110037802G>T	ENST00000420578.2	+	2	226	c.186G>T	c.(184-186)gcG>gcT	p.A62A	CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000430195.2_Splice_Site_p.R97L			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	62	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCTTGGCGGTGAGTTTAG	0.493																																						ENST00000430195.2																			0				breast(1)|large_intestine(3)|prostate(1)	5						c.(289-291)cGg>cTg		cytochrome b561 family, member D1							325	299	308					1																	110037802		2203	4300	6503	SO:0001630	splice_region_variant	284613				electron transport chain|transport	integral to membrane	metal ion binding	g.chr1:110037802G>T	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"Cytochrome b genes"	26804	protein-coding gene	gene with protein product			"cytochrome b-561 domain containing 1"			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.186+1G>T	1.37:g.110037802G>T			Somatic				CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000420578.2_Splice_Site_p.A62A	p.R97L			WXS	Illumina GAIIx	Phase_I	Q8N8Q1	C56D1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	315	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	0			Cytochrome b561.		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Splice_Site	SNP	ENST00000420578.2	37	c.290G>T	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788359	0.31593	.	.	ENSG00000174151	ENST00000533024;ENST00000310611;ENST00000430195	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	P;B	0.37330	0.59;0.275	B;B	0.39771	0.263;0.309	T	0.48068	-0.9067	7	0.87932	D	0	.	9.4458	0.38697	0.0956:0.0:0.9044:0.0	.	97;97	Q5T6C3;Q8N8Q1-2	.;.	L	18;97;97	.	ENSP00000309324:R97L	R	+	2	0	CYB561D1	109839325	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.577000	0.36515	1.322000	0.45245	-0.126000	0.14955	CGT;CGT;CGG		0.493	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	Silent	7	291	7	291	---	---	---	---	T	110037802	G	T	110037802	5	4	73	1	0	0	0	0	0	0	1	0	4120	1130	39	1	300	1	CYB561D1	1	110037802	Splice_Site	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	499395	110037802	139212819	30	3579										
OLFML3	56944	broad.mit.edu	37	chr1	114524121	114524121	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgggacacaccatgtccCagagagaatgctgaggctgc	13	11	0	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.chr1:114524121C>A	ENST00000320334.4	+	3	1025	c.951C>A	c.(949-951)ccC>ccA	p.P317P	OLFML3_ENST00000393300.2_Silent_p.P297P|OLFML3_ENST00000369551.1_Silent_p.P297P|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	317	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		CACCATGTCCCAGAGAGAATG	0.572																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(889-891)ccC>ccA		olfactomedin-like 3							90	76	81					1																	114524121		2203	4300	6503	SO:0001819	synonymous_variant	56944				multicellular organismal development	extracellular region		g.chr1:114524121C>A	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.951C>A	1.37:g.114524121C>A			Somatic				OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Silent_p.P317P|OLFML3_ENST00000393300.2_Silent_p.P297P	p.P297P			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_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	1179	+	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)	317			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	ENST00000320334.4	37	c.891C>A	CCDS870.1																																																																																				0.572	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		5	72	5	72	---	---	---	---	A	114524121	C	A	114524121	2	1	73	1	0	0	0	0	0	0	0	1	10859	581	21	1		1	OLFML3	1	114524121	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4486319	114524121	134726500	31	3580										
BNIPL	149428	broad.mit.edu	37	chr1	151011338	151011338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgcaagcgtctttctgcccCagagttgcggctgagtctga	13	12	3	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.chr1:151011338C>A	ENST00000368931.3	+	4	425	c.269C>A	c.(268-270)cCa>cAa	p.P90Q	BNIPL_ENST00000295294.7_Missense_Mutation_p.P8Q	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	90					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)			CTTTCTGCCCCAGAGTTGCGG	0.577																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(22-24)cCa>cAa		BCL2/adenovirus E1B 19kD interacting protein like							69	67	68					1																	151011338		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.chr1:151011338C>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.269C>A	1.37:g.151011338C>A	ENSP00000357927:p.Pro90Gln		Somatic				BNIPL_ENST00000368931.3_Missense_Mutation_p.P90Q	p.P8Q	NM_001159642.1	NP_001153114.1	WXS	Illumina GAIIx	Phase_I	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	632	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		90					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.23C>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435602	0.62955	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.70749	0.53;0.48;-0.51	5.15	4.24	0.50183	.	0.058160	0.64402	D	0.000001	T	0.81245	0.4782	M	0.89095	3.005	0.40167	D	0.977136	D	0.89917	1.0	D	0.97110	1.0	D	0.83848	0.0261	10	0.52906	T	0.07	.	11.0577	0.47929	0.1847:0.8153:0.0:0.0	.	90	Q7Z465	BNIPL_HUMAN	Q	90;88;8;8	ENSP00000357927:P90Q;ENSP00000355333:P88Q;ENSP00000295294:P8Q	ENSP00000295294:P8Q	P	+	2	0	BNIPL	149277962	1.000000	0.71417	0.975000	0.42487	0.813000	0.45954	2.844000	0.48246	1.397000	0.46682	0.563000	0.77884	CCA		0.577	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		5	62	5	62	---	---	---	---	A	151011338	C	A	151011338	3	1	73	1	0	0	0	0	1	0	0	0	1480	594	21	1	283	1	BNIPL	1	151011338	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	36487217	151011338	98239283	32	3581										
PIP5K1A	8394	broad.mit.edu	37	chr1	151204728	151204728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtttaaccccacagtgaaGggagcaacctgacccctgct	9	14	0	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.chr1:151204728G>T	ENST00000368888.4	+	6	795	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.G113W	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	125	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			CCACAGTGAAGGGAGCAACCT	0.522																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(337-339)Ggg>Tgg		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							136	128	131					1																	151204728		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204728G>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.373G>T	1.37:g.151204728G>T	ENSP00000357883:p.Gly125Trp		Somatic				PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.G125W|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W	p.G113W			WXS	Illumina GAIIx	Phase_I	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	782	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		125			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.337G>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248474	0.80024	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.22	4.31	0.51392	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98754	4.32	0.80722	D	1	P;D;B;D	0.89917	0.511;1.0;0.377;1.0	P;D;B;D	0.79108	0.573;0.992;0.295;0.992	T	0.80795	-0.1223	10	0.87932	D	0	.	13.6835	0.62502	0.0748:0.0:0.9252:0.0	.	113;112;125;112	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	W	112;113;113;112;125	ENSP00000271663:G112W;ENSP00000386432:G113W;ENSP00000415648:G113W;ENSP00000357885:G112W;ENSP00000357883:G125W	ENSP00000271663:G112W	G	+	1	0	PIP5K1A	149471352	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.606000	0.98325	1.464000	0.47987	0.479000	0.44913	GGG		0.522	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		6	151	6	151	---	---	---	---	T	151204728	G	T	151204728	3	4	73	1	0	0	0	0	1	0	0	0	11939	1000	35	1	395	1	PIP5K1A	1	151204728	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	193390	151204728	98045893	33	3582										
ZNF687	5298	broad.mit.edu	37	chr1	151262651	151262651	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgctccttctgctccgccccCagcctgaggcgccatgtcag	10	19	2	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.chr1:151262651C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.P1006P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						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)			GCTCCGCCCCCAGCCTGAGGC	0.602																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(3016-3018)ccC>ccA		zinc finger protein 687							106	98	101					1																	151262651		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262651C>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		1.37:g.151262651C>A			Somatic					p.P1006P	NM_020832.1	NP_065883.1	WXS	Illumina GAIIx	Phase_I	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3116	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1006					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.3018C>A		.	.	.	.	.	.	.	.	.	.	C	7.664	0.685469	0.14973	.	.	ENSG00000143373	ENST00000426871	T	0.27402	1.67	5.15	4.21	0.49690	.	0.000000	0.33895	U	0.004456	T	0.33702	0.0872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14504	-1.0470	7	0.54805	T	0.06	-18.9872	12.3842	0.55323	0.1755:0.8245:0.0:0.0	.	.	.	.	Q	609	ENSP00000398821:P609Q	ENSP00000398821:P609Q	P	+	2	0	ZNF687	149529275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.080000	0.50112	1.334000	0.45468	0.467000	0.42956	CCA		0.602	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		6	119	6	119	---	---	---	---	A	151262651	C	A	151262651	1	1	73	0	1	0	0	0	0	0	0	0	18089	581	21	1		1	ZNF687	1	151262651	IGR	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	57923	151262651	97987970	34	3583										
FLG	2312	broad.mit.edu	37	chr1	152279709	152279709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggcccctctgattgtccCtggcccacctgcgagtgtcc	11	17	1	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.chr1:152279709C>A	ENST00000368799.1	-	3	7688	c.7653G>T	c.(7651-7653)caG>caT	p.Q2551H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2551	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)			CTGATTGTCCCTGGCCCACCT	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.(7651-7653)caG>caT		filaggrin							189	207	201					1																	152279709		2200	4300	6500	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.chr1:152279709C>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.7653G>T	1.37:g.152279709C>A	ENSP00000357789:p.Gln2551His		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q2551H	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7688	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2551			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7653G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.385	0.256224	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.05580	3.42	1.24	-0.0236	0.13942	.	.	.	.	.	T	0.02119	0.0066	L	0.61218	1.895	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42032	-0.9475	9	0.42905	T	0.14	.	4.0942	0.09983	0.5834:0.4166:0.0:0.0	.	2551	P20930	FILA_HUMAN	H	2551	ENSP00000357789:Q2551H	ENSP00000357789:Q2551H	Q	-	3	2	FLG	150546333	0.716000	0.27956	0.003000	0.11579	0.010000	0.07245	0.628000	0.24522	-0.017000	0.14103	0.306000	0.20318	CAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	324	8	324	---	---	---	---	A	152279709	C	A	152279709	3	1	73	1	0	0	0	0	1	0	0	0	5922	680	24	1	4536	1	FLG	1	152279709	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1017058	152279709	96970912	35	3584										
FLG	2312	broad.mit.edu	37	chr1	152281407	152281407	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgcagcctgtccacgagaGgaagactctgtgtgacgagt	14	10	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.chr1:152281407G>T	ENST00000368799.1	-	3	5990	c.5955C>A	c.(5953-5955)tcC>tcA	p.S1985S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1985	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)			GTCCACGAGAGGAAGACTCTG	0.577									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.(5953-5955)tcC>tcA		filaggrin							552	442	479					1																	152281407		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.chr1:152281407G>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.5955C>A	1.37:g.152281407G>T			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1985S	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5990	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1985			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5955C>A	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	647	11	647	---	---	---	---	T	152281407	G	T	152281407	2	4	73	1	0	0	0	0	0	0	0	1	5922	987	35	1		1	FLG	1	152281407	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1698	152281407	96969214	36	3585										
CRNN	49860	broad.mit.edu	37	chr1	152382841	152382841	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcctgctccacagtctgGgtggcacctgcctgggtctg	13	14	2	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.chr1:152382841G>T	ENST00000271835.3	-	3	779	c.717C>A	c.(715-717)acC>acA	p.T239T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	239	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)			CCACAGTCTGGGTGGCACCTG	0.597																																						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.(715-717)acC>acA		cornulin							246	249	248					1																	152382841		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382841G>T	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.717C>A	1.37:g.152382841G>T			Somatic				RP1-91G5.3_ENST00000411804.1_RNA	p.T239T	NM_016190.2	NP_057274.1	WXS	Illumina GAIIx	Phase_I	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	779	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		239			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.717C>A	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		9	321	9	321	---	---	---	---	T	152382841	G	T	152382841	2	4	73	1	0	0	0	0	0	0	0	1	3892	1219	43	1		1	CRNN	1	152382841	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	101434	152382841	96867780	37	3586										
PGLYRP4	57115	broad.mit.edu	37	chr1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttacctttttcagtgagctGggagatgttctcaaataggt	10	6	2	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.chr1:153318593G>T	ENST00000359650.5	-	3	188	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	42					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)			TCAGTGAGCTGGGAGATGTTC	0.453																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(124-126)Cag>Aag		peptidoglycan recognition protein 4							276	273	274					1																	153318593		2203	4300	6503	SO:0001583	missense	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.chr1:153318593G>T	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.124C>A	1.37:g.153318593G>T	ENSP00000352672:p.Gln42Lys		Somatic				PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR	p.Q42K			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	482	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		42					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.124C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587343	0.28268	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04809	3.57;3.55	3.4	0.191	0.15130	.	0.686315	0.11382	N	0.569703	T	0.01976	0.0062	L	0.32530	0.975	0.09310	N	1	D;D	0.58620	0.983;0.971	P;B	0.48840	0.592;0.388	T	0.44967	-0.9293	10	0.56958	D	0.05	.	5.4396	0.16500	0.0:0.1979:0.3974:0.4047	.	42;42	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	K	42	ENSP00000357728:Q42K;ENSP00000352672:Q42K	ENSP00000352672:Q42K	Q	-	1	0	PGLYRP4	151585217	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.101000	0.10973	0.042000	0.15717	0.462000	0.41574	CAG		0.453	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		8	283	8	283	---	---	---	---	T	153318593	G	T	153318593	3	4	73	1	0	0	0	0	1	0	0	0	11796	1357	47	1	1025	1	PGLYRP4	1	153318593	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	935752	153318593	95932028	38	3587										
INTS3	65123	broad.mit.edu	37	chr1	153735803	153735803	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgaccagttggatgagtcCctgagggacaaagtactcca	11	10	0	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.chr1:153735803C>A	ENST00000318967.2	+	16	2299	c.1731C>A	c.(1729-1731)tcC>tcA	p.S577S	INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000456435.1_Silent_p.S371S	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	578					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)			TGGATGAGTCCCTGAGGGACA	0.512																																						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.(1111-1113)tcC>tcA		integrator complex subunit 3							139	134	135					1																	153735803		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.chr1:153735803C>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.1731C>A	1.37:g.153735803C>A			Somatic				INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000318967.2_Silent_p.S577S	p.S371S			WXS	Illumina GAIIx	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2299	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		578					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.1113C>A	CCDS1052.1																																																																																				0.512	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		6	139	6	139	---	---	---	---	A	153735803	C	A	153735803	2	1	73	1	0	0	0	0	0	0	0	1	7779	610	22	1		1	INTS3	1	153735803	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	417210	153735803	95514818	39	3588										
NES	10763	broad.mit.edu	37	chr1	156640356	156640356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtacatcctcctcagcttcCtctgaccccagaggccaagg	9	16	2	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.chr1:156640356C>A	ENST00000368223.3	-	4	3756	c.3624G>T	c.(3622-3624)gaG>gaT	p.E1208D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1208	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)					CCTCAGCTTCCTCTGACCCCA	0.647																																						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.(3622-3624)gaG>gaT		nestin							79	78	78					1																	156640356		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.chr1:156640356C>A	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.3624G>T	1.37:g.156640356C>A	ENSP00000357206:p.Glu1208Asp		Somatic					p.E1208D	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			4	3756	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1208			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3624G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747045	0.69418	.	.	ENSG00000132688	ENST00000368223	D	0.88741	-2.42	3.95	0.789	0.18607	.	.	.	.	.	D	0.83096	0.5180	M	0.65498	2.005	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.75010	-0.3468	9	0.87932	D	0	.	8.914	0.35570	0.0:0.7307:0.0:0.2693	.	1208	P48681	NEST_HUMAN	D	1208	ENSP00000357206:E1208D	ENSP00000357206:E1208D	E	-	3	2	NES	154906980	0.000000	0.05858	0.003000	0.11579	0.658000	0.38924	-1.155000	0.03163	-0.051000	0.13334	0.455000	0.32223	GAG		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	134	6	134	---	---	---	---	A	156640356	C	A	156640356	3	1	73	1	0	0	0	0	1	0	0	0	10337	680	24	1	1245	1	NES	1	156640356	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2904553	156640356	92610265	40	3589										
INSRR	3645	broad.mit.edu	37	chr1	156811571	156811571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtctgtctcatacacgtccCgagtcatcccgaagtctgga	9	13	4	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.chr1:156811571C>A	ENST00000368195.3	-	20	3809	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1138	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)					ATACACGTCCCGAGTCATCCC	0.602																																						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.(3412-3414)cGg>cTg		insulin receptor-related receptor							124	114	118					1																	156811571		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.chr1:156811571C>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.3413G>T	1.37:g.156811571C>A	ENSP00000357178:p.Arg1138Leu		Somatic				NTRK1_ENST00000392302.2_Intron	p.R1138L	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			20	3809	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1138			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3413G>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707380	0.89018	.	.	ENSG00000027644	ENST00000368195	D	0.85088	-1.94	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40385	N	0.001119	D	0.91529	0.7325	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92504	0.6011	9	0.87932	D	0	.	16.6498	0.85186	0.0:1.0:0.0:0.0	.	1138	P14616	INSRR_HUMAN	L	1138	ENSP00000357178:R1138L	ENSP00000357178:R1138L	R	-	2	0	INSRR	155078195	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.590000	0.82653	2.523000	0.85059	0.561000	0.74099	CGG		0.602	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	154	6	154	---	---	---	---	A	156811571	C	A	156811571	3	1	73	1	0	0	0	0	1	0	0	0	7774	652	23	1	491	1	INSRR	1	156811571	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	171215	156811571	92439050	41	3590										
SPTA1	6708	broad.mit.edu	37	chr1	158639501	158639501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaggcccttggacatacccCgtcacggatagccttgatgt	10	13	1	1	rs199638352		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.chr1:158639501C>A	ENST00000368147.4	-	13	1855	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	559					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.G559W(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)					GGACATACCCCGTCACGGATA	0.433																																						ENST00000368147.4																			1	Substitution - Missense(1)	p.G559W(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.(1675-1677)Ggg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							230	216	220					1																	158639501		1930	4136	6066	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.chr1:158639501C>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.1675G>T	1.37:g.158639501C>A	ENSP00000357129:p.Gly559Trp		Somatic					p.G559W	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			13	1855	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1675G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053759	0.36277	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42900	0.96;0.96	4.72	-0.702	0.11265	.	1.586190	0.04485	N	0.378418	T	0.34308	0.0893	L	0.43152	1.355	0.31781	N	0.630853	D	0.61080	0.989	P	0.62813	0.907	T	0.03240	-1.1057	10	0.66056	D	0.02	.	5.2663	0.15601	0.0:0.4733:0.2723:0.2543	.	559	P02549	SPTA1_HUMAN	W	559	ENSP00000357130:G559W;ENSP00000357129:G559W	ENSP00000357129:G559W	G	-	1	0	SPTA1	156906125	0.012000	0.17670	0.024000	0.17045	0.235000	0.25334	-0.183000	0.09712	-0.195000	0.10382	0.655000	0.94253	GGG		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		7	259	7	259	---	---	---	---	A	158639501	C	A	158639501	3	1	73	1	0	0	0	0	1	0	0	0	15115	652	23	1	5744	1	SPTA1	1	158639501	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1827930	158639501	90611120	42	3591										
OR6K3	391114	broad.mit.edu	37	chr1	158687669	158687669	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaggttggagagcatcttGggaatggtggctgtggtgta	18	3	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.chr1:158687669G>T	ENST00000368146.1	-	1	284	c.285C>A	c.(283-285)ccC>ccA	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						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)					AGAGCATCTTGGGAATGGTGG	0.453																																						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.(283-285)ccC>ccA		olfactory receptor, family 6, subfamily K, member 3							153	159	157					1																	158687669		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687669G>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.285C>A	1.37:g.158687669G>T			Somatic				OR6K3_ENST00000368145.1_Silent_p.P79P	p.P95P			WXS	Illumina GAIIx	Phase_I	Q8NGY3	OR6K3_HUMAN			1	284	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.285C>A																																																																																					0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				8	259	8	259	---	---	---	---	T	158687669	G	T	158687669	2	4	73	1	0	0	0	0	0	0	0	1	11203	1335	47	1		1	OR6K3	1	158687669	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	48168	158687669	90562952	43	3592										
PEX19	5824	broad.mit.edu	37	chr1	160254884	160254884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccctgtccgcttcggcccCgacactacagccttcctcag	7	19	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.chr1:160254884C>A	ENST00000368072.5	-	1	52	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	11	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGGCCCCGACACTACAG	0.632																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(31-33)Ggg>Tgg		peroxisomal biogenesis factor 19							76	75	75					1																	160254884		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160254884C>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"housekeeping gene, 33kD"	600279	"peroxisomal farnesylated protein"	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.31G>T	1.37:g.160254884C>A	ENSP00000357051:p.Gly11Trp		Somatic				PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	p.G11W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(70;0.111)		1	52	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.31G>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042059	0.55003	.	.	ENSG00000162735	ENST00000368072	.	.	.	4.82	2.88	0.33553	.	0.959429	0.08612	N	0.919883	T	0.11836	0.0288	N	0.14661	0.345	0.23657	N	0.997189	P	0.38335	0.627	B	0.40982	0.345	T	0.20974	-1.0259	9	0.72032	D	0.01	-0.1033	8.0876	0.30782	0.0:0.7517:0.1595:0.0888	.	11	P40855	PEX19_HUMAN	W	11	.	ENSP00000357051:G11W	G	-	1	0	PEX19	158521508	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.852000	0.27764	1.226000	0.43582	0.650000	0.86243	GGG		0.632	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		5	112	5	112	---	---	---	---	A	160254884	C	A	160254884	3	1	73	1	0	0	0	0	1	0	0	0	11744	652	23	1	900	1	PEX19	1	160254884	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1567215	160254884	88995737	44	3593										
NOS1AP	9722	broad.mit.edu	37	chr1	162313729	162313729	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagatggccaggaagatggAgagagcgagaggaacagcaa	17	6	0	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.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			Somatic				NOS1AP_ENST00000530878.1_Silent_p.G181G	p.G186G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	WXS	Illumina GAIIx	Phase_I	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	3	66	---	---	---	---	G	162313729	A	G	162313729	2	3	73	1	0	0	0	0	0	0	0	1	10542	291	11	2		2	NOS1AP	1	162313729	Silent	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	2058845	162313729	86936892	45	3594										
RCSD1	92241	broad.mit.edu	37	chr1	167663439	167663439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacagcccaccttctacccCcagcagccctggtgtgcgat	8	18	2	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.chr1:167663439C>A	ENST00000367854.3	+	5	705	c.374C>A	c.(373-375)cCc>cAc	p.P125H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	125					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTTCTACCCCCAGCAGCCCT	0.587																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(373-375)cCc>cAc		RCSD domain containing 1							73	69	70					1																	167663439		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663439C>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.374C>A	1.37:g.167663439C>A	ENSP00000356828:p.Pro125His		Somatic				RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	p.P125H	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			5	705	+	all_hematologic(923;0.215)		125					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.374C>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435473	0.83885	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.56103	0.51;0.48	5.09	5.09	0.68999	.	0.058726	0.64402	D	0.000001	T	0.67287	0.2877	M	0.66939	2.045	0.39809	D	0.972678	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70096	-0.4966	9	0.66056	D	0.02	-6.7366	18.8744	0.92328	0.0:1.0:0.0:0.0	.	95;125	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	H	125;101;95	ENSP00000356828:P125H;ENSP00000439409:P95H	ENSP00000355291:P101H	P	+	2	0	RCSD1	165930063	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.208000	0.65203	2.525000	0.85131	0.655000	0.94253	CCC		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		6	74	6	74	---	---	---	---	A	167663439	C	A	167663439	3	1	73	1	0	0	0	0	1	0	0	0	13185	623	22	1	392	1	RCSD1	1	167663439	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5349710	167663439	81587182	46	3595										
LAMC1	3915	broad.mit.edu	37	chr1	183072514	183072514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagttccacaccagccgccCggagagctttgccatttaca	8	15	0	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.chr1:183072514C>A	ENST00000258341.4	+	2	727	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	157	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)			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						ACCAGCCGCCCGGAGAGCTTT	0.493																																						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.(469-471)cCg>cAg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99	109	106					1																	183072514		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.chr1:183072514C>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.470C>A	1.37:g.183072514C>A	ENSP00000258341:p.Pro157Gln		Somatic					p.P157Q	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			2	727	+			157			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.470C>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447472	0.84101	.	.	ENSG00000135862	ENST00000258341	D	0.87412	-2.25	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.051191	0.85682	D	0.000000	D	0.95799	0.8633	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96939	0.9686	10	0.87932	D	0	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	157;157	P11047;Q6NVY8	LAMC1_HUMAN;.	Q	157	ENSP00000258341:P157Q	ENSP00000258341:P157Q	P	+	2	0	LAMC1	181339137	1.000000	0.71417	0.956000	0.39512	0.517000	0.34286	7.556000	0.82233	2.501000	0.84356	0.655000	0.94253	CCG		0.493	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		5	213	5	213	---	---	---	---	A	183072514	C	A	183072514	3	1	73	1	0	0	0	0	1	0	0	0	8614	652	23	1	476	1	LAMC1	1	183072514	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	15409075	183072514	66178107	47	3596										
LAMC2	3918	broad.mit.edu	37	chr1	183177030	183177030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccagtctgtgattgcaatGggaagtccaggcagtgtatc	12	10	1	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.chr1:183177030G>T	ENST00000264144.4	+	2	159	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	32	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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						TGATTGCAATGGGAAGTCCAG	0.423																																						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.(94-96)Ggg>Tgg		laminin, gamma 2							141	135	137					1																	183177030		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177030G>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.94G>T	1.37:g.183177030G>T	ENSP00000264144:p.Gly32Trp		Somatic				LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	p.G32W	NM_005562.2	NP_005553.2	WXS	Illumina GAIIx	Phase_I	Q13753	LAMC2_HUMAN			2	159	+			32			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.94G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511794	0.64522	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.67523	-0.27;-0.27	4.7	4.7	0.59300	EGF-like, laminin (3);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.87277	0.6137	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91613	0.5304	10	0.87932	D	0	.	17.2649	0.87084	0.0:0.0:1.0:0.0	.	32;32	Q13753;Q13753-2	LAMC2_HUMAN;.	W	32	ENSP00000432063:G32W;ENSP00000264144:G32W	ENSP00000264144:G32W	G	+	1	0	LAMC2	181443653	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	7.358000	0.79466	2.146000	0.66826	0.591000	0.81541	GGG		0.423	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		6	181	6	181	---	---	---	---	T	183177030	G	T	183177030	3	4	73	1	0	0	0	0	1	0	0	0	8615	1348	47	1	100	1	LAMC2	1	183177030	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	104516	183177030	66073591	48	3597										
RGL1	23179	broad.mit.edu	37	chr1	183881372	183881372	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggagggctccattactccCatggacacccctgatgagcc	11	14	0	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.chr1:183881372C>A	ENST00000360851.3	+	15	1897	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000304685.4_Silent_p.P608P|RGL1_ENST00000539189.1_Silent_p.P544P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	573	Ser-rich.				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						CCATTACTCCCATGGACACCC	0.527																																						ENST00000304685.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1822-1824)ccC>ccA		ral guanine nucleotide dissociation stimulator-like 1							67	61	63					1																	183881372		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.chr1:183881372C>A	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.1719C>A	1.37:g.183881372C>A			Somatic				RGL1_ENST00000539189.1_Silent_p.P544P|RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000360851.3_Silent_p.P573P	p.P608P	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			16	2273	+						Ser-rich.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.1824C>A																																																																																					0.527	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		5	43	5	43	---	---	---	---	A	183881372	C	A	183881372	2	1	73	1	0	0	0	0	0	0	0	1	13276	581	21	1		1	RGL1	1	183881372	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	704342	183881372	65369249	49	3598										
PTGS2	5743	broad.mit.edu	37	chr1	186646027	186646027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtctagccagagtttcacCgtaaatatgatttaagtcca	7	9	2	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.chr1:186646027C>A	ENST00000367468.5	-	6	797	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	221					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)	AGAGTTTCACCGTAAATATGA	0.313																																						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.(661-663)Ggt>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)						115	129	124					1																	186646027		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.chr1:186646027C>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.661G>T	1.37:g.186646027C>A	ENSP00000356438:p.Gly221Cys		Somatic				PTGS2_ENST00000490885.2_5'UTR	p.G221C	NM_000963.2	NP_000954.1	WXS	Illumina GAIIx	Phase_I	P35354	PGH2_HUMAN			6	797	-			221					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.661G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748220	0.89663	.	.	ENSG00000073756	ENST00000367468	T	0.77750	-1.12	5.51	5.51	0.81932	.	0.050259	0.85682	D	0.000000	D	0.92648	0.7664	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94758	0.7933	10	0.87932	D	0	-14.6393	19.4407	0.94820	0.0:1.0:0.0:0.0	.	221;221	Q8IZA9;P35354	.;PGH2_HUMAN	C	221	ENSP00000356438:G221C	ENSP00000356438:G221C	G	-	1	0	PTGS2	184912650	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.726000	0.68515	2.586000	0.87340	0.650000	0.86243	GGT		0.313	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		5	212	5	212	---	---	---	---	A	186646027	C	A	186646027	3	1	73	1	0	0	0	0	1	0	0	0	12756	652	23	1	1173	1	PTGS2	1	186646027	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2764655	186646027	62604594	50	3599										
ASPM	259266	broad.mit.edu	37	chr1	197094066	197094066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgcctatccacaatatcCttagatagaattgtatttcc	5	10	0	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.chr1:197094066C>A	ENST00000367409.4	-	12	3358	c.3102G>T	c.(3100-3102)aaG>aaT	p.K1034N	ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1034	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						CCACAATATCCTTAGATAGAA	0.323																																						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.(3100-3102)aaG>aaT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							124	134	131					1																	197094066		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094066C>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.3102G>T	1.37:g.197094066C>A	ENSP00000356379:p.Lys1034Asn		Somatic				ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	p.K1034N	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			12	3358	-			1034			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3102G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424932	0.62733	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60040	0.22;0.22;0.22	5.55	2.65	0.31530	Calponin homology domain (4);	0.070563	0.64402	D	0.000020	T	0.64616	0.2614	L	0.43554	1.36	0.45403	D	0.998382	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.942	T	0.65409	-0.6175	10	0.72032	D	0.01	.	10.2877	0.43577	0.0:0.7274:0.0:0.2726	.	1034;1034	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1034;1034;284	ENSP00000356379:K1034N;ENSP00000294732:K1034N;ENSP00000356378:K284N	ENSP00000294732:K1034N	K	-	3	2	ASPM	195360689	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.806000	0.27126	0.822000	0.34565	-0.251000	0.11542	AAG		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	144	6	144	---	---	---	---	A	197094066	C	A	197094066	3	1	73	1	0	0	0	0	1	0	0	0	1056	680	24	1	7399	1	ASPM	1	197094066	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10448039	197094066	52156555	51	3600										
DDX59	83479	broad.mit.edu	37	chr1	200613506	200613506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttctggtcatgaaggtatGgggaatttaataactgaggg	13	4	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.chr1:200613506G>T	ENST00000331314.6	-	8	1949	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	579	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					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						ATGAAGGTATGGGGAATTTAA	0.358																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1735-1737)cCa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							217	210	212					1																	200613506		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613506G>T	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.1736C>A	1.37:g.200613506G>T	ENSP00000330460:p.Pro579Gln		Somatic				DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	p.P579Q	NM_001031725.4	NP_001026895.2	WXS	Illumina GAIIx	Phase_I	Q5T1V6	DDX59_HUMAN			8	1949	-			579			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1736C>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897408	0.91962	.	.	ENSG00000118197	ENST00000367346;ENST00000331314;ENST00000433235	D;T	0.92149	-2.98;0.97	5.61	5.61	0.85477	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	L	0.45352	1.415	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.94207	0.7455	10	0.52906	T	0.07	-19.5638	19.6401	0.95754	0.0:0.0:1.0:0.0	.	579	Q5T1V6	DDX59_HUMAN	Q	165;579;222	ENSP00000330460:P579Q;ENSP00000409954:P222Q	ENSP00000330460:P579Q	P	-	2	0	DDX59	198880129	1.000000	0.71417	0.421000	0.26609	0.971000	0.66376	9.624000	0.98398	2.635000	0.89317	0.643000	0.83706	CCA		0.358	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		7	185	7	185	---	---	---	---	T	200613506	G	T	200613506	3	4	73	1	0	0	0	0	1	0	0	0	4376	1348	47	1	127	1	DDX59	1	200613506	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3519440	200613506	48637115	52	3601										
PPP1R15B	84919	broad.mit.edu	37	chr1	204378927	204378927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attcccagtcatcttcctccCcagaactatgctcaggggtc	7	15	3	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.chr1:204378927C>A	ENST00000367188.4	-	1	1992	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	538					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCTTCCTCCCCAGAACTATG	0.458																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1612-1614)gGg>gTg		protein phosphatase 1, regulatory subunit 15B							54	54	54					1																	204378927		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378927C>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14951	protein-coding gene	gene with protein product		613257	"protein phosphatase 1, regulatory (inhibitor) subunit 15B"			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1613G>T	1.37:g.204378927C>A	ENSP00000356156:p.Gly538Val		Somatic				RP11-739N20.2_ENST00000443515.1_RNA	p.G538V	NM_032833.3	NP_116222.3	WXS	Illumina GAIIx	Phase_I	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1992	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		538					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1613G>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788951	0.49997	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.26067	1.76	5.38	-1.08	0.09936	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.546270	0.20617	N	0.088847	T	0.35913	0.0948	M	0.73962	2.25	0.37340	D	0.910353	D	0.58970	0.984	P	0.52386	0.697	T	0.48210	-0.9055	10	0.62326	D	0.03	-3.7724	10.2088	0.43128	0.0:0.4479:0.0:0.5521	.	538	Q5SWA1	PR15B_HUMAN	V	538;448	ENSP00000356156:G538V	ENSP00000356156:G538V	G	-	2	0	PPP1R15B	202645550	0.009000	0.17119	0.882000	0.34594	0.616000	0.37450	-0.222000	0.09190	-0.016000	0.14127	-0.150000	0.13652	GGG		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		6	56	6	56	---	---	---	---	A	204378927	C	A	204378927	3	1	73	1	0	0	0	0	1	0	0	0	12364	623	22	1	536	1	PPP1R15B	1	204378927	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3765421	204378927	44871694	53	3602										
SLC26A9	115019	broad.mit.edu	37	chr1	205901876	205901876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaagaagtaggtcaggagGgggaagaaggaggagtagag	21	1	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.chr1:205901876G>T	ENST00000367135.3	-	4	443	c.330C>A	c.(328-330)ccC>ccA	p.P110P	SLC26A9_ENST00000367134.2_Silent_p.P110P|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Silent_p.P110P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	110					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)			AGGTCAGGAGGGGGAAGAAGG	0.592																																						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.(328-330)ccC>ccA		solute carrier family 26 (anion exchanger), member 9							76	65	69					1																	205901876		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205901876G>T	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.330C>A	1.37:g.205901876G>T			Somatic				SLC26A9_ENST00000367134.2_Silent_p.P110P|SLC26A9_ENST00000340781.4_Silent_p.P110P	p.P110P	NM_052934.3	NP_443166.1	WXS	Illumina GAIIx	Phase_I	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		4	443	-	Breast(84;0.201)		110					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.330C>A	CCDS30990.1																																																																																				0.592	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		6	49	6	49	---	---	---	---	T	205901876	G	T	205901876	2	4	73	1	0	0	0	0	0	0	0	1	14524	1219	43	1		1	SLC26A9	1	205901876	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1522949	205901876	43348745	54	3603										
USH2A	7399	broad.mit.edu	37	chr1	215844538	215844538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtacctccagatgtggagGgggttgcatcaaaggtgcaa	14	7	1	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.chr1:215844538G>T	ENST00000307340.3	-	64	14295	c.13909C>A	c.(13909-13911)Cct>Act	p.P4637T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4637T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4637	Fibronectin type-III 32. {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)		AGATGTGGAGGGGGTTGCATC	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.(13909-13911)Cct>Act		Usher syndrome 2A (autosomal recessive, mild)							109	108	108					1																	215844538		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.chr1:215844538G>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.13909C>A	1.37:g.215844538G>T	ENSP00000305941:p.Pro4637Thr	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.P4637T	p.P4637T			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14295	-			4637			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13909C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.377	0.627965	0.14257	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.63417	-0.04;-0.04	5.21	0.67	0.17923	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.579316	0.14269	N	0.330277	T	0.49592	0.1566	L	0.59436	1.845	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.33777	-0.9855	10	0.37606	T	0.19	.	5.0778	0.14640	0.1469:0.504:0.244:0.1051	.	4637	O75445	USH2A_HUMAN	T	4637	ENSP00000305941:P4637T;ENSP00000355910:P4637T	ENSP00000305941:P4637T	P	-	1	0	USH2A	213911161	0.069000	0.21087	0.000000	0.03702	0.021000	0.10359	0.480000	0.22244	-0.071000	0.12886	0.650000	0.86243	CCT		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	108	6	108	---	---	---	---	T	215844538	G	T	215844538	3	4	73	1	0	0	0	0	1	0	0	0	17033	1232	43	1	1735	1	USH2A	1	215844538	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	9942662	215844538	33406083	55	3604										
LBR	3930	broad.mit.edu	37	chr1	225611726	225611726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcataataaagtgaactccCaggccatcgacctcttacca	5	13	2	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.chr1:225611726C>A	ENST00000338179.2	-	2	177	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	LBR_ENST00000272163.4_Missense_Mutation_p.G18W	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	18	Tudor.				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)		AGTGAACTCCCAGGCCATCGA	0.373																																						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.(52-54)Ggg>Tgg		lamin B receptor							258	280	273					1																	225611726		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.chr1:225611726C>A	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.52G>T	1.37:g.225611726C>A	ENSP00000339883:p.Gly18Trp		Somatic				LBR_ENST00000272163.4_Missense_Mutation_p.G18W	p.G18W	NM_194442.2	NP_919424.1	WXS	Illumina GAIIx	Phase_I	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	177	-	Breast(184;0.165)		18			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.52G>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789353	0.90367	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97959	-4.63;-4.63;-0.48	5.51	5.51	0.81932	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	-23.9586	17.2124	0.86934	0.0:1.0:0.0:0.0	.	18;18	C9JXK0;Q14739	.;LBR_HUMAN	W	18	ENSP00000272163:G18W;ENSP00000339883:G18W;ENSP00000388059:G18W	ENSP00000272163:G18W	G	-	1	0	LBR	223678349	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	6.519000	0.73768	2.581000	0.87130	0.655000	0.94253	GGG		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		10	494	10	494	---	---	---	---	A	225611726	C	A	225611726	3	1	73	1	0	0	0	0	1	0	0	0	8652	594	21	1	1847	1	LBR	1	225611726	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9767188	225611726	23638895	56	3605										
C1orf55	163859	broad.mit.edu	37	chr1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcccagagtcagtcaccGggatctgcagttgttctggt	12	12	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.chr1:226175877G>T	ENST00000272091.7	-	6	872	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	285																	GTCAGTCACCGGGATCTGCAG	0.502																																						ENST00000272091.7																			0											c.(853-855)cCg>cAg		SDE2 telomere maintenance homolog (S. pombe)							175	164	168					1																	226175877		1943	4144	6087	SO:0001583	missense	163859							g.chr1:226175877G>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 55"	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.854C>A	1.37:g.226175877G>T	ENSP00000272091:p.Pro285Gln		Somatic					p.P285Q	NM_152608.3	NP_689821.3	WXS	Illumina GAIIx	Phase_I					6	872	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.854C>A	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653524	0.47362	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.53206	0.78;0.63	6.05	0.9	0.19278	.	0.513077	0.23622	N	0.046231	T	0.34135	0.0887	L	0.59436	1.845	0.09310	N	1	B;B	0.23591	0.088;0.021	B;B	0.25614	0.062;0.017	T	0.18085	-1.0348	10	0.21540	T	0.41	-0.685	1.397	0.02263	0.2086:0.1076:0.3867:0.2972	.	273;285	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	Q	285;273;190	ENSP00000272091:P285Q;ENSP00000355782:P190Q	ENSP00000272091:P285Q	P	-	2	0	C1orf55	224242500	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.191000	0.17076	-0.069000	0.12931	0.650000	0.86243	CCG		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		7	185	7	185	---	---	---	---	T	226175877	G	T	226175877	3	4	73	1	0	0	0	0	1	0	0	0	2047	1116	39	1	509	1	C1orf55	1	226175877	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	564151	226175877	23074744	57	3606										
OBSCN	84033	broad.mit.edu	37	chr1	228462475	228462475	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accatctcagacctggtgctGgaggacgcgggccagatcac	13	13	2	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.chr1:228462475G>T	ENST00000422127.1	+	20	5930	c.5886G>T	c.(5884-5886)ctG>ctT	p.L1962L	OBSCN_ENST00000284548.11_Silent_p.L1962L|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.L2337L|OBSCN_ENST00000359599.6_Silent_p.L809L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1962	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)				ACCTGGTGCTGGAGGACGCGG	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.(7009-7011)ctG>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28	36	33					1																	228462475		2132	4248	6380	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.chr1:228462475G>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.5886G>T	1.37:g.228462475G>T			Somatic				OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1962L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L809L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1962L	p.L2337L	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			24	7085	+		Prostate(94;0.0405)	1322			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7011G>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	14	4	14	---	---	---	---	T	228462475	G	T	228462475	2	4	73	1	0	0	0	0	0	0	0	1	10812	1335	47	1		1	OBSCN	1	228462475	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2286598	228462475	20788146	58	3607										
WDR64	128025	broad.mit.edu	37	chr1	241958523	241958523	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcagattcgaagatatccCttggaaggtttcgtgactga	11	7	0	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.chr1:241958523C>A	ENST00000366552.2	+	25	3189	c.2982C>A	c.(2980-2982)ccC>ccA	p.P994P	WDR64_ENST00000437684.2_Silent_p.P827P	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	994										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)			GAAGATATCCCTTGGAAGGTT	0.443																																						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.(2980-2982)ccC>ccA		WD repeat domain 64							169	165	166					1																	241958523		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241958523C>A	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.2982C>A	1.37:g.241958523C>A			Somatic				WDR64_ENST00000437684.2_Silent_p.P827P	p.P994P	NM_144625.4	NP_653226.4	WXS	Illumina GAIIx	Phase_I	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		25	3189	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	994					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.2982C>A		.	.	.	.	.	.	.	.	.	.	C	7.557	0.663865	0.14710	.	.	ENSG00000162843	ENST00000425826	T	0.29142	1.58	5.62	-3.21	0.05140	.	0.733138	0.12997	N	0.421964	T	0.22360	0.0539	.	.	.	0.27410	N	0.954605	.	.	.	.	.	.	T	0.29305	-1.0016	7	0.33940	T	0.23	-2.3757	6.3522	0.21383	0.1462:0.2177:0.0:0.6362	.	.	.	.	H	473	ENSP00000406342:P473H	ENSP00000406342:P473H	P	+	2	0	WDR64	240025146	0.817000	0.29147	0.453000	0.27007	0.576000	0.36127	-0.114000	0.10757	-0.447000	0.07138	-1.244000	0.01528	CCT		0.443	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		6	141	6	141	---	---	---	---	A	241958523	C	A	241958523	2	1	73	1	0	0	0	0	0	0	0	1	17312	668	24	1		1	WDR64	1	241958523	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13496048	241958523	7292098	59	3608										
CNST	163882	broad.mit.edu	37	chr1	246784922	246784922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggattcaagagcacttcccCtttgccttcatcaggtactc	7	13	3	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.chr1:246784922C>A	ENST00000366513.4	+	3	840	c.571C>A	c.(571-573)Ctt>Att	p.L191I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L191I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	191					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						AGCACTTCCCCTTTGCCTTCA	0.468																																						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.(571-573)Ctt>Att		consortin, connexin sorting protein							153	146	149					1																	246784922		2203	4300	6503	SO:0001583	missense	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.chr1:246784922C>A	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.571C>A	1.37:g.246784922C>A	ENSP00000355470:p.Leu191Ile		Somatic				CNST_ENST00000366512.3_Missense_Mutation_p.L191I|CNST_ENST00000483271.1_3'UTR	p.L191I	NM_152609.2	NP_689822.2	WXS	Illumina GAIIx	Phase_I	Q6PJW8	CNST_HUMAN			3	840	+			191					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.571C>A	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949727	0.73787	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.25085	1.82;1.82	5.46	4.54	0.55810	.	0.093784	0.43416	D	0.000575	T	0.48040	0.1478	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.44314	-0.9336	10	0.52906	T	0.07	-3.7421	10.6358	0.45565	0.0:0.9114:0.0:0.0886	.	191;191	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	I	191	ENSP00000355470:L191I;ENSP00000355469:L191I	ENSP00000355469:L191I	L	+	1	0	CNST	244851545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.683000	0.46943	2.551000	0.86045	0.655000	0.94253	CTT		0.468	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	169	8	169	---	---	---	---	A	246784922	C	A	246784922	3	1	73	1	0	0	0	0	1	0	0	0	3634	681	24	1	577	1	CNST	1	246784922	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4826399	246784922	2465699	60	3609										
OR2L8	391190	broad.mit.edu	37	chr1	248112853	248112853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accacatgaaatctgcagaaGggaggaagaaagcctatttg	11	7	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.chr1:248112853G>T	ENST00000357191.3	+	1	694	c.694G>T	c.(694-696)Ggg>Tgg	p.G232W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	232						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(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			ATCTGCAGAAGGGAGGAAGAA	0.453																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(694-696)Ggg>Tgg		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							171	119	137					1																	248112853		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112853G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.694G>T	1.37:g.248112853G>T	ENSP00000349719:p.Gly232Trp		Somatic				OR2L13_ENST00000366478.2_Intron	p.G232W	NM_001001963.1	NP_001001963.1	WXS	Illumina GAIIx	Phase_I	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	694	+	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)		232					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.694G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.489	0.458434	0.12342	.	.	ENSG00000196936	ENST00000357191	T	0.00304	8.19	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32015	U	0.006702	T	0.01124	0.0037	H	0.98370	4.215	0.09310	N	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.17806	-1.0357	10	0.87932	D	0	.	10.6261	0.45508	0.0:0.0:1.0:0.0	.	232	Q8NGY9	OR2L8_HUMAN	W	232	ENSP00000349719:G232W	ENSP00000349719:G232W	G	+	1	0	OR2L8	246179476	0.005000	0.15991	0.021000	0.16686	0.061000	0.15899	0.595000	0.24029	1.010000	0.39314	0.485000	0.47835	GGG		0.453	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			6	160	6	160	---	---	---	---	T	248112853	G	T	248112853	3	4	73	1	0	0	0	0	1	0	0	0	11009	1000	35	1	696	1	OR2L8	1	248112853	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1327931	248112853	1137768	61	3610										
PXDN	7837	broad.mit.edu	37	chr2	1667464	1667464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtactggccctggtcgtggaGggcaacaccagagattctaa	13	10	1	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.chr2:1667464G>T	ENST00000252804.4	-	12	1530	c.1480C>A	c.(1480-1482)Ctc>Atc	p.L494I	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	494	Ig-like C2-type 3.				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)		TGGTCGTGGAGGGCAACACCA	0.622																																						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.(1480-1482)Ctc>Atc		peroxidasin homolog (Drosophila)							83	91	88					2																	1667464		2055	4169	6224	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.chr2:1667464G>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.1480C>A	2.37:g.1667464G>T	ENSP00000252804:p.Leu494Ile		Somatic					p.L494I	NM_012293.1	NP_036425.1	WXS	Illumina GAIIx	Phase_I	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)	12	1530	-	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)	494			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1480C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768149	0.49680	.	.	ENSG00000130508	ENST00000252804	T	0.31769	1.48	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.213285	0.42420	D	0.000717	T	0.31765	0.0807	N	0.26092	0.79	0.41562	D	0.988635	P;P	0.39940	0.696;0.605	P;P	0.49637	0.617;0.491	T	0.04796	-1.0926	10	0.45353	T	0.12	-37.0918	10.4267	0.44383	0.1443:0.0:0.8557:0.0	.	494;494	Q92626-2;Q92626	.;PXDN_HUMAN	I	494	ENSP00000252804:L494I	ENSP00000252804:L494I	L	-	1	0	PXDN	1646471	1.000000	0.71417	0.946000	0.38457	0.280000	0.26924	4.325000	0.59234	2.735000	0.93741	0.655000	0.94253	CTC		0.622	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	117	6	117	---	---	---	---	T	1667464	G	T	1667464	3	4	73	1	0	0	0	0	1	0	0	0	12847	1000	35	1	3007	1	PXDN	2	1667464	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		1667464	241531909	62	3611										
ROCK2	9475	broad.mit.edu	37	chr2	11367418	11367418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaaacacctacagaccacCaatcacattctcgcccatag	5	15	2	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.chr2:11367418C>A	ENST00000315872.6	-	6	1278	c.830G>T	c.(829-831)tGg>tTg	p.W277L	ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	277	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)		TACAGACCACCAATCACATTC	0.368																																						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.(829-831)tGg>tTg		Rho-associated, coiled-coil containing protein kinase 2							244	240	241					2																	11367418		1891	4128	6019	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.chr2:11367418C>A	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.830G>T	2.37:g.11367418C>A	ENSP00000317985:p.Trp277Leu		Somatic				ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	p.W277L	NM_004850.3	NP_004841.2	WXS	Illumina GAIIx	Phase_I	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		277			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.830G>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873729	0.91664	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.21932	1.98;1.98;1.98	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);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	N	0.11284	0.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.41233	-0.9520	10	0.87932	D	0	.	18.7544	0.91826	0.0:1.0:0.0:0.0	.	277	O75116	ROCK2_HUMAN	L	277;34;104	ENSP00000317985:W277L;ENSP00000385509:W34L;ENSP00000395957:W104L	ENSP00000261535:W277L	W	-	2	0	ROCK2	11284869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.501000	0.84356	0.585000	0.79938	TGG		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	203	7	203	---	---	---	---	A	11367418	C	A	11367418	3	1	73	1	0	0	0	0	1	0	0	0	13518	595	21	1	3448	1	ROCK2	2	11367418	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9699954	11367418	231831955	63	3612										
IFT172	26160	broad.mit.edu	37	chr2	27688726	27688726	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcggtctttcccccgccCcgctccagacctataacatc	5	20	1	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.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	572					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)					TTCCCCCGCCCCGCTCCAGAC	0.488																																						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.(1714-1716)cgG>cgT		intraflagellar transport 172 homolog (Chlamydomonas)							311	307	309					2																	27688726		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688726C>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.1716G>T	2.37:g.27688726C>A			Somatic					p.R572R	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			17	1819	-	Acute lymphoblastic leukemia(172;0.155)		572					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1716G>T	CCDS1755.1																																																																																				0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	407	9	407	---	---	---	---	A	27688726	C	A	27688726	2	1	73	1	0	0	0	0	0	0	0	1	7557	610	22	1		1	IFT172	2	27688726	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	16321308	27688726	215510647	64	3613										
C2orf16	84226	broad.mit.edu	37	chr2	27804602	27804602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagagaagccatcgcagtccCgctcggaggagccatcgcag	13	13	0	1	rs375014967		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.chr2:27804602C>A	ENST00000408964.2	+	1	5214	c.5163C>A	c.(5161-5163)ccC>ccA	p.P1721P	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1721	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)					ATCGCAGTCCCGCTCGGAGGA	0.567																																						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.(5161-5163)ccC>ccA		chromosome 2 open reading frame 16							168	173	171					2																	27804602		1934	4130	6064	SO:0001819	synonymous_variant	84226							g.chr2:27804602C>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.5163C>A	2.37:g.27804602C>A			Somatic					p.P1721P	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	5214	+	Acute lymphoblastic leukemia(172;0.155)		1721			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5163C>A	CCDS42666.1																																																																																				0.567	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	263	7	263	---	---	---	---	A	27804602	C	A	27804602	2	1	73	1	0	0	0	0	0	0	0	1	2157	639	23	1		1	C2orf16	2	27804602	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	115876	27804602	215394771	65	3614										
C2orf16	84226	broad.mit.edu	37	chr2	27804794	27804794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagagaagacatcacagtccCtcagagaaaagccatcacag	9	11	3	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.chr2:27804794C>A	ENST00000408964.2	+	1	5406	c.5355C>A	c.(5353-5355)ccC>ccA	p.P1785P	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1785	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)					ATCACAGTCCCTCAGAGAAAA	0.542																																						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.(5353-5355)ccC>ccA		chromosome 2 open reading frame 16							178	182	181					2																	27804794		1933	4132	6065	SO:0001819	synonymous_variant	84226							g.chr2:27804794C>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.5355C>A	2.37:g.27804794C>A			Somatic				AC074091.1_ENST00000408604.1_RNA	p.P1785P	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	5406	+	Acute lymphoblastic leukemia(172;0.155)		1785			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5355C>A	CCDS42666.1																																																																																				0.542	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	234	7	234	---	---	---	---	A	27804794	C	A	27804794	2	1	73	1	0	0	0	0	0	0	0	1	2157	668	24	1		1	C2orf16	2	27804794	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	192	27804794	215394579	66	3615										
PLEKHH2	130271	broad.mit.edu	37	chr2	43939470	43939470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgagtacaagctgccaaccCactttccctgcagcctgagg	9	15	0	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.chr2:43939470C>A	ENST00000282406.4	+	15	2518	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	803					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)				GCTGCCAACCCACTTTCCCTG	0.468																																						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.(2407-2409)cCa>cAa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							109	97	101					2																	43939470		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939470C>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.2408C>A	2.37:g.43939470C>A	ENSP00000282406:p.Pro803Gln		Somatic					p.P803Q	NM_172069.3	NP_742066.2	WXS	Illumina GAIIx	Phase_I	Q8IVE3	PKHH2_HUMAN			15	2518	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	803					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2408C>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703341	0.68501	.	.	ENSG00000152527	ENST00000282406	T	0.74842	-0.88	4.93	4.05	0.47172	.	0.177067	0.50627	D	0.000110	T	0.80053	0.4553	M	0.63843	1.955	0.51767	D	0.999936	D;D	0.67145	0.985;0.996	P;D	0.63877	0.883;0.919	T	0.76838	-0.2811	10	0.30078	T	0.28	-9.0051	9.2846	0.37749	0.0:0.8361:0.0:0.1639	.	803;240	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Q	803	ENSP00000282406:P803Q	ENSP00000282406:P803Q	P	+	2	0	PLEKHH2	43792974	1.000000	0.71417	0.979000	0.43373	0.926000	0.56050	4.601000	0.61090	1.066000	0.40716	0.460000	0.39030	CCA		0.468	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		5	81	5	81	---	---	---	---	A	43939470	C	A	43939470	3	1	73	1	0	0	0	0	1	0	0	0	12077	594	21	1	2462	1	PLEKHH2	2	43939470	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	16134676	43939470	199259903	67	3616										
OTX1	5013	broad.mit.edu	37	chr2	63280185	63280185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggctgggcctggccgggccCgccatggacctcctgcaccc	15	18	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.chr2:63280185C>A	ENST00000282549.2	+	3	336	c.60C>A	c.(58-60)ccC>ccA	p.P20P	OTX1_ENST00000366671.3_Silent_p.P20P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	20					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)	p.P20P(2)		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)					TGGCCGGGCCCGCCATGGACC	0.657																																						ENST00000366671.3																			2	Substitution - coding silent(2)	p.P20P(2)	lung(1)|endometrium(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(58-60)ccC>ccA		orthodenticle homeobox 1							62	74	70					2																	63280185		2203	4299	6502	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63280185C>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.60C>A	2.37:g.63280185C>A			Somatic				OTX1_ENST00000282549.2_Silent_p.P20P	p.P20P	NM_001199770.1	NP_001186699.1	WXS	Illumina GAIIx	Phase_I	P32242	OTX1_HUMAN			3	336	+	Lung NSC(7;0.121)|all_lung(7;0.211)		20					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.60C>A	CCDS1873.1																																																																																				0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			5	154	5	154	---	---	---	---	A	63280185	C	A	63280185	2	1	73	1	0	0	0	0	0	0	0	1	11320	639	23	1		1	OTX1	2	63280185	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	19340715	63280185	179919188	68	3617										
HSPC159	29094	broad.mit.edu	37	chr2	64683534	64683534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagaaattcttgtatatctGgggagaggggtgaagaacag	14	4	3	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.chr2:64683534G>T	ENST00000238875.5	+	4	764	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	AC008074.3_ENST00000441630.1_RNA|LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TTGTATATCTGGGGAGAGGGG	0.527																																						ENST00000238875.5																			0											c.(310-312)Ggg>Tgg		lectin, galactoside-binding-like							171	178	176					2																	64683534		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64683534G>T	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"galectin-related protein"					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.310G>T	2.37:g.64683534G>T	ENSP00000238875:p.Gly104Trp		Somatic				LGALSL_ENST00000409537.2_Intron	p.G104W	NM_014181.2	NP_054900.2	WXS	Illumina GAIIx	Phase_I	Q3ZCW2	LEGL_HUMAN			4	764	+			104			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.310G>T	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542138	0.85917	.	.	ENSG00000119862	ENST00000238875	T	0.08458	3.09	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48246	-0.9052	10	0.87932	D	0	-16.7742	20.0203	0.97492	0.0:0.0:1.0:0.0	.	104	Q3ZCW2	LEGL_HUMAN	W	104	ENSP00000238875:G104W	ENSP00000238875:G104W	G	+	1	0	AC008074.1	64537038	1.000000	0.71417	0.460000	0.27093	0.991000	0.79684	9.230000	0.95299	2.730000	0.93505	0.655000	0.94253	GGG		0.527	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		8	277	8	277	---	---	---	---	T	64683534	G	T	64683534	3	4	73	1	0	0	0	0	1	0	0	0	7427	1348	47	1	324	1	HSPC159	2	64683534	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1403349	64683534	178515839	69	3618										
CEP68	23177	broad.mit.edu	37	chr2	65298930	65298930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctggagccggtcgtccccCaggaaccttcctctgtggtg	12	16	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.chr2:65298930C>A	ENST00000377990.2	+	3	903	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	234					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCGTCCCCCAGGAACCTTC	0.652																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(700-702)Cag>Aag		centrosomal protein 68kDa							56	63	61					2																	65298930		2203	4299	6502	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298930C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.700C>A	2.37:g.65298930C>A	ENSP00000367229:p.Gln234Lys		Somatic				CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K	p.Q234K	NM_015147.2	NP_055962.2	WXS	Illumina GAIIx	Phase_I	Q76N32	CEP68_HUMAN			3	903	+			234					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.700C>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113589	0.77210	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15487	2.43;2.42;2.42	5.79	4.86	0.63082	.	0.539313	0.18403	N	0.142297	T	0.11495	0.0280	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.41848	0.763;0.763;0.589;0.589;0.763	B;B;B;B;B	0.39027	0.229;0.229;0.288;0.229;0.288	T	0.02837	-1.1104	10	0.02654	T	1	-2.6382	13.8016	0.63204	0.0:0.8471:0.1529:0.0	.	222;234;234;234;234	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	K	234;234;234;222	ENSP00000367229:Q234K;ENSP00000438306:Q234K;ENSP00000260569:Q234K	ENSP00000260569:Q234K	Q	+	1	0	CEP68	65152434	0.007000	0.16637	0.516000	0.27786	0.299000	0.27559	1.932000	0.40143	2.735000	0.93741	0.591000	0.81541	CAG		0.652	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		8	107	8	107	---	---	---	---	A	65298930	C	A	65298930	3	1	73	1	0	0	0	0	1	0	0	0	3258	595	21	1	706	1	CEP68	2	65298930	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	615396	65298930	177900443	70	3619										
POLR1A	25885	broad.mit.edu	37	chr2	86257427	86257427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaggcaccgagtgatgccCttggtcgcatagatgacggc	15	10	0	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.chr2:86257427C>A	ENST00000263857.6	-	31	5049	c.4671G>T	c.(4669-4671)aaG>aaT	p.K1557N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1557					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						GAGTGATGCCCTTGGTCGCAT	0.478																																						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.(4669-4671)aaG>aaT		polymerase (RNA) I polypeptide A, 194kDa							189	171	177					2																	86257427		1961	4144	6105	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.chr2:86257427C>A	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.4671G>T	2.37:g.86257427C>A	ENSP00000263857:p.Lys1557Asn		Somatic				POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N	p.K1557N			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			31	5049	-			1557					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4671G>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026913	0.54683	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.77229	-1.08;-1.08	4.12	4.12	0.48240	RNA polymerase Rpb1, domain 5 (1);	0.487229	0.24085	N	0.041686	D	0.82995	0.5158	M	0.80508	2.5	0.44485	D	0.997428	P	0.43231	0.801	P	0.49012	0.598	D	0.85693	0.1308	10	0.66056	D	0.02	-20.3183	13.1019	0.59224	0.0:0.8385:0.1615:0.0	.	1557	O95602	RPA1_HUMAN	N	1557;1496	ENSP00000263857:K1557N;ENSP00000386300:K1496N	ENSP00000263857:K1557N	K	-	3	2	POLR1A	86110938	0.983000	0.35010	0.999000	0.59377	0.827000	0.46813	0.860000	0.27871	2.250000	0.74265	0.655000	0.94253	AAG		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	108	7	108	---	---	---	---	A	86257427	C	A	86257427	3	1	73	1	0	0	0	0	1	0	0	0	12209	680	24	1	507	1	POLR1A	2	86257427	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	20958497	86257427	156941946	71	3620										
KDM3A	55818	broad.mit.edu	37	chr2	86693619	86693619	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcctctcagattggaactGgagacttgaaaattctgact	9	8	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.chr2:86693619G>T	ENST00000409556.1	+	11	1497	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	378					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						GATTGGAACTGGAGACTTGAA	0.433																																					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.(1132-1134)Gga>Tga		lysine (K)-specific demethylase 3A							114	118	117					2																	86693619		2203	4300	6503	SO:0001587	stop_gained	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.chr2:86693619G>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.1132G>T	2.37:g.86693619G>T	ENSP00000386660:p.Gly378*		Somatic				KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*	p.G378*			WXS	Illumina GAIIx	Phase_I	Q9Y4C1	KDM3A_HUMAN			11	1497	+			378					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Nonsense_Mutation	SNP	ENST00000409556.1	37	c.1132G>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	37	5.984632	0.97173	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	5.93	5.93	0.95920	.	0.086842	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.5066	0.87747	0.0:0.0:1.0:0.0	.	.	.	.	X	378;378;378;378;326	.	ENSP00000323659:G378X	G	+	1	0	KDM3A	86547130	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.458000	0.60095	2.808000	0.96608	0.655000	0.94253	GGA		0.433	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		6	218	6	218	---	---	---	---	T	86693619	G	T	86693619	4	4	73	1	0	0	0	0	0	1	0	0	8126	1349	47	1	1166	1	KDM3A	2	86693619	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	436192	86693619	156505754	72	3621										
ZNF514	84874	broad.mit.edu	37	chr2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggaagtgaaaggacttccCacactcattacatttacaag	7	10	1	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.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					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						AAGGACTTCCCACACTCATTA	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(628-630)Ggg>Tgg		zinc finger protein 514							121	128	126					2																	95815602		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815602C>A	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.628G>T	2.37:g.95815602C>A	ENSP00000295208:p.Gly210Trp		Somatic				ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	p.G210W	NM_032788.1	NP_116177.1	WXS	Illumina GAIIx	Phase_I	Q96K75	ZN514_HUMAN			5	1090	-			210					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.628G>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890939	0.72524	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.36520	1.25;1.25	3.71	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65217	0.2670	M	0.90309	3.105	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73770	-0.3878	9	0.72032	D	0.01	.	13.3589	0.60644	0.0:1.0:0.0:0.0	.	210;29	Q96K75;Q658L7	ZN514_HUMAN;.	W	210	ENSP00000295208:G210W;ENSP00000405509:G210W	ENSP00000295208:G210W	G	-	1	0	ZNF514	95179329	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.006000	0.57083	2.065000	0.61736	0.655000	0.94253	GGG		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		6	151	6	151	---	---	---	---	A	95815602	C	A	95815602	3	1	73	1	0	0	0	0	1	0	0	0	17956	594	21	1	578	1	ZNF514	2	95815602	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9121983	95815602	147383771	73	3622										
TMEM131	23505	broad.mit.edu	37	chr2	98451389	98451389	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttcataaggaggaatttcCtgacaagttaacagaccata	8	7	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.chr2:98451389C>A	ENST00000186436.5	-	9	1033		c.e9-1		TMEM131_ENST00000425805.2_Splice_Site	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							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						GAGGAATTTCCTGACAAGTTA	0.368																																						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.e9-1		transmembrane protein 131							151	143	145					2																	98451389		1873	4100	5973	SO:0001630	splice_region_variant	23505					integral to membrane		g.chr2:98451389C>A	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.805-1G>T	2.37:g.98451389C>A			Somatic				TMEM131_ENST00000425805.2_Splice_Site		NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			9	1033	-									Splice_Site	SNP	ENST00000186436.5	37		CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733087	0.89482	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7796	0.96412	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97817821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.756000	0.94617	0.655000	0.94253	.		0.368	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Intron	6	167	6	167	---	---	---	---	A	98451389	C	A	98451389	5	1	73	1	0	0	0	0	0	0	1	0	16041	695	24	1	4979	1	TMEM131	2	98451389	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2635787	98451389	144747984	74	3623										
RGPD4	285190	broad.mit.edu	37	chr2	108487617	108487617	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaagtagaacttgtaataGgagaagaaggtgaaaaagtt	11	1	0	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.chr2:108487617G>T	ENST00000408999.3	+	20	3234	c.3157G>T	c.(3157-3159)Gga>Tga	p.G1053*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1053	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTGTAATAGGAGAAGAAGG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3157-3159)Gga>Tga		RANBP2-like and GRIP domain containing 4							16	12	13					2																	108487617		689	1576	2265	SO:0001587	stop_gained	285190				intracellular transport		binding	g.chr2:108487617G>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.3157G>T	2.37:g.108487617G>T	ENSP00000386810:p.Gly1053*		Somatic				RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	p.G1053*	NM_182588.2	NP_872394.2	WXS	Illumina GAIIx	Phase_I	Q7Z3J3	RGPD4_HUMAN			20	3234	+			1053			RanBD1 1.		B9A029	Nonsense_Mutation	SNP	ENST00000408999.3	37	c.3157G>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	35	5.574394	0.96553	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.6885	11.5771	0.50869	0.0:0.0:1.0:0.0	.	.	.	.	X	1053;1053;811	.	ENSP00000347081:G1053X	G	+	1	0	RGPD4	107854049	1.000000	0.71417	0.952000	0.39060	0.065000	0.16274	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GGA		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		12	856	12	856	---	---	---	---	T	108487617	G	T	108487617	4	4	73	1	0	0	0	0	0	1	0	0	13288	1001	35	1	3235	1	RGPD4	2	108487617	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	10036228	108487617	134711756	75	3624										
ANAPC1	64682	broad.mit.edu	37	chr2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtgcaagaaaggagccatTagaattactatttggagaat	11	4	0	3	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		Somatic					p.N392D	NM_022662.3	NP_073153.1	WXS	Illumina GAIIx	Phase_I	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	6	24	---	---	---	---	C	112620054	T	C	112620054	3	2	73	1	0	0	0	0	1	0	0	0	598	1754	61	2	4816	2	ANAPC1	2	112620054	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	4132437	112620054	130579319	76	3625										
MAP3K2	10746	broad.mit.edu	37	chr2	128066229	128066229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcatccagtatggtgtgccCgtgacagacttcattcctgt	9	12	2	2	rs375482969		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.chr2:128066229C>A	ENST00000409947.1	-	16	1848	c.1566G>T	c.(1564-1566)acG>acT	p.T522T	MAP3K2_ENST00000344908.5_Silent_p.T522T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	522	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)	ATGGTGTGCCCGTGACAGACT	0.488																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1564-1566)acG>acT		mitogen-activated protein kinase kinase kinase 2							217	219	218					2																	128066229		2019	4206	6225	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.chr2:128066229C>A	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.1566G>T	2.37:g.128066229C>A			Somatic				MAP3K2_ENST00000344908.5_Silent_p.T522T	p.T522T			WXS	Illumina GAIIx	Phase_I	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	16	1848	-	Colorectal(110;0.1)		522			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1566G>T	CCDS46404.1																																																																																				0.488	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		7	348	7	348	---	---	---	---	A	128066229	C	A	128066229	2	1	73	1	0	0	0	0	0	0	0	1	9250	639	23	1		1	MAP3K2	2	128066229	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	15446175	128066229	115133144	77	3626										
MAP3K2	10746	broad.mit.edu	37	chr2	128079650	128079650	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgggctgatgtccattacGgtcaaagtaggattgtctat	13	6	2	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.chr2:128079650G>T	ENST00000409947.1	-	12	1299	c.1017C>A	c.(1015-1017)acC>acA	p.T339T	MAP3K2_ENST00000344908.5_Silent_p.T339T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	339					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)	TGTCCATTACGGTCAAAGTAG	0.378																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1015-1017)acC>acA		mitogen-activated protein kinase kinase kinase 2							100	97	98					2																	128079650		1909	4107	6016	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.chr2:128079650G>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.1017C>A	2.37:g.128079650G>T			Somatic				MAP3K2_ENST00000344908.5_Silent_p.T339T	p.T339T			WXS	Illumina GAIIx	Phase_I	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	12	1299	-	Colorectal(110;0.1)		339					B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1017C>A	CCDS46404.1																																																																																				0.378	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		3	25	3	25	---	---	---	---	T	128079650	G	T	128079650	2	4	73	1	0	0	0	0	0	0	0	1	9250	1103	39	1		1	MAP3K2	2	128079650	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	13421	128079650	115119723	78	3627										
MGAT5	4249	broad.mit.edu	37	chr2	135076250	135076250	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacatgtggcgttcagatccCtgctacgcagactatggagt	12	10	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.chr2:135076250C>A	ENST00000409645.1	+	5	765	c.513C>A	c.(511-513)ccC>ccA	p.P171P	MGAT5_ENST00000281923.2_Silent_p.P171P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	171					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)		GTTCAGATCCCTGCTACGCAG	0.512																																						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.(511-513)ccC>ccA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							239	226	230					2																	135076250		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:135076250C>A	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.513C>A	2.37:g.135076250C>A			Somatic				MGAT5_ENST00000281923.2_Silent_p.P171P	p.P171P			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	765	+			171					D3DP70	Silent	SNP	ENST00000409645.1	37	c.513C>A	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		7	236	7	236	---	---	---	---	A	135076250	C	A	135076250	2	1	73	1	0	0	0	0	0	0	0	1	9548	668	24	1		1	MGAT5	2	135076250	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6996600	135076250	108123123	79	3628										
THSD7B	80731	broad.mit.edu	37	chr2	137928433	137928433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgatggctggcatcagaaGggatctgtttccctgatcat	11	10	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.chr2:137928433G>T	ENST00000409968.1	+	7	1826	c.1648G>T	c.(1648-1650)Ggg>Tgg	p.G550W	THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	550						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)		GGCATCAGAAGGGATCTGTTT	0.537																																						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.(1648-1650)Ggg>Tgg		thrombospondin, type I, domain containing 7B							116	111	113					2																	137928433		2017	4183	6200	SO:0001583	missense	80731							g.chr2:137928433G>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.1648G>T	2.37:g.137928433G>T	ENSP00000387145:p.Gly550Trp		Somatic				THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR	p.G550W			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1826	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1648G>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.087980	0.76642	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.25250	2.32;2.2;1.81	5.91	5.03	0.67393	.	0.152240	0.64402	D	0.000014	T	0.47303	0.1438	M	0.66439	2.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.45175	-0.9279	10	0.52906	T	0.07	.	12.339	0.55083	0.0787:0.0:0.9213:0.0	.	550;519	Q9C0I4;C9JKN6	THS7B_HUMAN;.	W	550;550;519	ENSP00000387145:G550W;ENSP00000272643:G550W;ENSP00000413841:G519W	ENSP00000272643:G550W	G	+	1	0	THSD7B	137644903	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.813000	0.55636	1.505000	0.48720	-0.140000	0.14226	GGG		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		5	50	5	50	---	---	---	---	T	137928433	G	T	137928433	3	4	73	1	0	0	0	0	1	0	0	0	15877	1000	35	1	1577	1	THSD7B	2	137928433	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2852183	137928433	105270940	80	3629										
ZEB2	9839	broad.mit.edu	37	chr2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagtgtatgaactactgtGggagtttttagaagatgtgg	15	2	0	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.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797					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)		GAACTACTGTGGGAGTTTTTA	0.393																																					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.(2389-2391)Cac>Aac		zinc finger E-box binding homeobox 2							128	133	131					2																	145156365		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.chr2:145156365G>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.2389C>A	2.37:g.145156365G>T	ENSP00000454157:p.His797Asn		Somatic				ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	p.H797N	NM_014795.3	NP_055610.1	WXS	Illumina GAIIx	Phase_I	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3573	-			797					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2389C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382718	0.42207	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.12361	2.71;2.69;2.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.57536	1.79	0.80722	D	1	P;B;B;B	0.43662	0.814;0.128;0.128;0.128	B;B;B;B	0.35770	0.21;0.039;0.039;0.039	T	0.02238	-1.1190	10	0.39692	T	0.17	-11.1937	19.5998	0.95557	0.0:0.0:1.0:0.0	.	773;662;796;797	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	N	773;797;797	ENSP00000443792:H773N;ENSP00000302501:H797N;ENSP00000386854:H797N	ENSP00000302501:H797N	H	-	1	0	ZEB2	144872835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.717000	0.92951	0.655000	0.94253	CAC		0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		7	185	7	185	---	---	---	---	T	145156365	G	T	145156365	3	4	73	1	0	0	0	0	1	0	0	0	17621	1348	47	1	1267	1	ZEB2	2	145156365	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	7227932	145156365	98043008	81	3630										
NEB	4703	broad.mit.edu	37	chr2	152370886	152370886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatgtcaggtgtatcttcCatttcagtgaggcccttccc	9	12	3	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.chr2:152370886C>A	ENST00000172853.10	-	131	18117	c.17970G>T	c.(17968-17970)atG>atT	p.M5990I	NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000427231.2_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I			P20929	NEBU_HUMAN	nebulin	5990					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)		GTGTATCTTCCATTTCAGTGA	0.443																																						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.(23071-23073)atG>atT		nebulin							332	335	334					2																	152370886		2158	4261	6419	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.chr2:152370886C>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.17970G>T	2.37:g.152370886C>A	ENSP00000172853:p.Met5990Ile		Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000172853.10_Missense_Mutation_p.M5990I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I	p.M7691I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	159	23275	-			5990					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.23073G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.135692|2.135692	0.37728|0.37728	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.169313|.	0.64402|.	D|.	0.000017|.	T|T	0.52933|0.52933	0.1765|0.1765	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;P|.	0.42556|.	0.029;0.126;0.783|.	B;B;P|.	0.51615|.	0.017;0.176;0.675|.	T|T	0.48293|0.48293	-0.9048|-0.9048	10|5	0.15952|.	T|.	0.53|.	.|.	10.1899|10.1899	0.43019|0.43019	0.0:0.8526:0.0:0.1474|0.0:0.8526:0.0:0.1474	.|.	5990;7691;2421|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	I|L	5990;7691;7691;2039;2421;5990|277	ENSP00000386259:M5990I;ENSP00000380505:M7691I;ENSP00000416578:M7691I;ENSP00000410961:M2421I;ENSP00000172853:M5990I|.	ENSP00000172853:M5990I|.	M|W	-|-	3|2	0|0	NEB|NEB	152079132|152079132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.769000|1.769000	0.38522|0.38522	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	320	7	320	---	---	---	---	A	152370886	C	A	152370886	3	1	73	1	0	0	0	0	1	0	0	0	10302	594	21	1	2600	1	NEB	2	152370886	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7214521	152370886	90828487	82	3631										
NEB	4703	broad.mit.edu	37	chr2	152487817	152487817	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatagacccaatggggaccCagccaatgcctctcagccac	8	17	1	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.chr2:152487817C>A	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000427231.2_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L			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)		AATGGGGACCCAGCCAATGCC	0.448																																						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.(9457-9459)tGg>tTg		nebulin							78	69	72					2																	152487817		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.chr2:152487817C>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.8890-484G>T	2.37:g.152487817C>A			Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron	p.W3153L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9660	-			3153					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9458G>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113207	0.77210	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.07444	3.19;3.19	5.86	5.86	0.93980	.	.	.	.	.	T	0.36663	0.0975	M	0.87827	2.91	0.80722	D	1	.	.	.	.	.	.	T	0.12760	-1.0535	6	.	.	.	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	L	3153	ENSP00000380505:W3153L;ENSP00000416578:W3153L	.	W	-	2	0	NEB	152196063	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.809000	0.69172	2.771000	0.95319	0.563000	0.77884	TGG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	78	6	78	---	---	---	---	A	152487817	C	A	152487817	1	1	73	0	1	0	0	0	0	0	0	0	10302	595	21	1		1	NEB	2	152487817	Intron	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	116931	152487817	90711556	83	3632										
SCN1A	6323	broad.mit.edu	37	chr2	166852624	166852624	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cataaagatgtcttgacctcCaaagtatagaaaagaaaaat	6	6	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.chr2:166852624C>A	ENST00000303395.4	-	24	4479	c.4480G>T	c.(4480-4482)Gga>Tga	p.G1494*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.G1494*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1494					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)	TCTTGACCTCCAAAGTATAGA	0.308																																						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.(4480-4482)Gga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						87	84	85					2																	166852624		2202	4296	6498	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166852624C>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.4480G>T	2.37:g.166852624C>A	ENSP00000303540:p.Gly1494*		Somatic				SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G1494*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA	p.G1494*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			24	4497	-			1494					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.4480G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	43	10.151485	0.99348	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.64	5.64	0.86602	.	0.082064	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7032	0.96063	0.0:1.0:0.0:0.0	.	.	.	.	X	1494;1494;1483;1466	.	ENSP00000303540:G1494X	G	-	1	0	SCN1A	166560870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.663000	0.90544	0.650000	0.86243	GGA		0.308	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	91	5	91	---	---	---	---	A	166852624	C	A	166852624	4	1	73	1	0	0	0	0	0	1	0	0	13914	603	21	1	1561	1	SCN1A	2	166852624	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	14364807	166852624	76346749	84	3633										
SLC25A12	8604	broad.mit.edu	37	chr2	172683358	172683358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaggccccctcagccaatgGggctattctctcaatatctg	8	13	4	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.chr2:172683358G>T	ENST00000422440.2	-	9	917	c.880C>A	c.(880-882)Cca>Aca	p.P294T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	294					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)	TCAGCCAATGGGGCTATTCTC	0.403																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(880-882)Cca>Aca		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						69	70	70					2																	172683358		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.chr2:172683358G>T	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.880C>A	2.37:g.172683358G>T	ENSP00000388658:p.Pro294Thr		Somatic				SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	p.P294T	NM_003705.4	NP_003696.2	WXS	Illumina GAIIx	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	917	-			294					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.880C>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556451	0.86231	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79454	-1.27;-1.26	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91539	0.5248	10	0.66056	D	0.02	-9.5747	19.3598	0.94432	0.0:0.0:1.0:0.0	.	187;294	B3KR64;O75746	.;CMC1_HUMAN	T	294;187	ENSP00000388658:P294T;ENSP00000376371:P187T	ENSP00000376371:P187T	P	-	1	0	SLC25A12	172391604	1.000000	0.71417	0.944000	0.38274	0.955000	0.61496	9.435000	0.97529	2.638000	0.89438	0.591000	0.81541	CCA		0.403	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		6	116	6	116	---	---	---	---	T	172683358	G	T	172683358	3	4	73	1	0	0	0	0	1	0	0	0	14474	1232	43	1	1196	1	SLC25A12	2	172683358	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5830734	172683358	70516015	85	3634										
ANKRD44	91526	broad.mit.edu	37	chr2	197946386	197946386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacagtgtggcttccttttcCttcagctccctggctctttc	7	14	2	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.chr2:197946386C>A	ENST00000328737.2	-	15	1522	c.1446G>T	c.(1444-1446)aaG>aaT	p.K482N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	507										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)			CTTCCTTTTCCTTCAGCTCCC	0.408																																						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.(1444-1446)aaG>aaT		ankyrin repeat domain 44							217	217	217					2																	197946386		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197946386C>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.1446G>T	2.37:g.197946386C>A	ENSP00000331516:p.Lys482Asn		Somatic				ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N	p.K482N			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	1522	-			507					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1446G>T		.	.	.	.	.	.	.	.	.	.	C	16.05	3.011774	0.54468	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.66280	2.52;-0.15;-0.12;-0.12;2.52;-0.09;2.52;-0.2	5.36	4.48	0.54585	.	0.115765	0.64402	D	0.000011	T	0.61286	0.2335	N	0.14661	0.345	0.43255	D	0.995188	B;P;D	0.69078	0.001;0.915;0.997	B;P;D	0.83275	0.005;0.72;0.996	T	0.57260	-0.7842	10	0.17832	T	0.49	.	12.6058	0.56523	0.0:0.9214:0.0:0.0786	.	435;507;525	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	N	322;499;482;482;482;182;507;435	ENSP00000403415:K322N;ENSP00000282272:K499N;ENSP00000331516:K482N;ENSP00000402420:K482N;ENSP00000338794:K482N;ENSP00000416319:K182N;ENSP00000387141:K507N;ENSP00000437825:K435N	ENSP00000282272:K499N	K	-	3	2	ANKRD44	197654631	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.537000	0.45702	1.381000	0.46364	0.563000	0.77884	AAG		0.408	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		8	287	8	287	---	---	---	---	A	197946386	C	A	197946386	3	1	73	1	0	0	0	0	1	0	0	0	672	680	24	1	1361	1	ANKRD44	2	197946386	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	25263028	197946386	45252987	86	3635										
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	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_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_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		Somatic				IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G	NM_001282387.1	NP_001269316.1	WXS	Illumina GAIIx	Phase_I	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	20	53	---	---	---	---	C	209113113	G	C	209113113	3	2	73	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11166727	209113113	34086260	87	3636										
ATIC	471	broad.mit.edu	37	chr2	216213941	216213941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctctgatgccttcttccCtttccgagataacgtagaca	7	13	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.chr2:216213941C>A	ENST00000236959.9	+	15	1954	c.1628C>A	c.(1627-1629)cCt>cAt	p.P543H	ATIC_ENST00000435675.1_Missense_Mutation_p.P542H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	543					'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)	GCCTTCTTCCCTTTCCGAGAT	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.(1624-1626)cCt>cAt		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						131	125	127					2																	216213941		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.chr2:216213941C>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.1628C>A	2.37:g.216213941C>A	ENSP00000236959:p.Pro543His		Somatic				ATIC_ENST00000236959.9_Missense_Mutation_p.P543H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H	p.P542H			WXS	Illumina GAIIx	Phase_I	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)	14	2016	+		Renal(323;0.229)	543					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1625C>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085556	0.94100	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.9	5.9	0.94986	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98287	1.0511	10	0.87932	D	0	-24.7296	20.2789	0.98501	0.0:1.0:0.0:0.0	.	542;543	E9PBU3;P31939	.;PUR9_HUMAN	H	543;484;542;58	ENSP00000236959:P543H;ENSP00000440523:P484H;ENSP00000415935:P542H;ENSP00000391399:P58H	ENSP00000236959:P543H	P	+	2	0	ATIC	215922186	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	CCT		0.433	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		6	88	6	88	---	---	---	---	A	216213941	C	A	216213941	3	1	73	1	0	0	0	0	1	0	0	0	1105	681	24	1	1686	1	ATIC	2	216213941	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7100828	216213941	26985432	88	3637										
CYP27A1	1593	broad.mit.edu	37	chr2	219677402	219677402	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctatgccaccttcctcccCaagtggactcgccccgtgct	7	19	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.chr2:219677402C>A	ENST00000258415.4	+	4	1201	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	258					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)	CCTTCCTCCCCAAGTGGACTC	0.572																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(772-774)ccC>ccA		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						287	277	280					2																	219677402		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.chr2:219677402C>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.774C>A	2.37:g.219677402C>A			Somatic					p.P258P	NM_000784.3	NP_000775.1	WXS	Illumina GAIIx	Phase_I	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)	4	1201	+		Renal(207;0.0474)	258					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.774C>A	CCDS2423.1																																																																																				0.572	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			10	379	10	379	---	---	---	---	A	219677402	C	A	219677402	2	1	73	1	0	0	0	0	0	0	0	1	4158	581	21	1		1	CYP27A1	2	219677402	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3463461	219677402	23521971	89	3638										
DOCK10	55619	broad.mit.edu	37	chr2	225657754	225657754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggtatcctccgagagcaGggatgctgtgcaaatctttt	13	8	1	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.chr2:225657754G>T	ENST00000258390.7	-	47	5315	c.5248C>A	c.(5248-5250)Ctg>Atg	p.L1750M	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1744M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1750	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)		TCCGAGAGCAGGGATGCTGTG	0.443																																						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.(5230-5232)Ctg>Atg		dedicator of cytokinesis 10							227	209	215					2																	225657754		1878	4112	5990	SO:0001583	missense	55619						GTP binding	g.chr2:225657754G>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.5248C>A	2.37:g.225657754G>T	ENSP00000258390:p.Leu1750Met		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.L1750M	p.L1744M			WXS	Illumina GAIIx	Phase_I	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)	47	5343	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1750			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5230C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858845	0.17178	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19806	2.13;2.12	5.73	-0.996	0.10218	.	0.387664	0.27912	N	0.017357	T	0.07052	0.0179	N	0.04959	-0.14	0.27927	N	0.938014	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.18116	-1.0347	10	0.31617	T	0.26	.	3.0612	0.06200	0.1496:0.0929:0.232:0.5255	.	1750;1744;412	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	M	1744;1750	ENSP00000386694:L1744M;ENSP00000258390:L1750M	ENSP00000258390:L1750M	L	-	1	2	DOCK10	225365998	1.000000	0.71417	0.997000	0.53966	0.749000	0.42624	1.600000	0.36762	0.060000	0.16281	-0.142000	0.14014	CTG		0.443	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	242	8	242	---	---	---	---	T	225657754	G	T	225657754	3	4	73	1	0	0	0	0	1	0	0	0	4685	991	35	1	1352	1	DOCK10	2	225657754	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5980352	225657754	17541619	90	3639										
DNER	92737	broad.mit.edu	37	chr2	230450627	230450627	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctccaggaggaccagtcccCctgaagcctgaaggggggtc	14	14	0	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.chr2:230450627C>A	ENST00000341772.4	-	4	928	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	265					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)		GACCAGTCCCCCTGAAGCCTG	0.517																																						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.(793-795)gGg>gTg		delta/notch-like EGF repeat containing							93	91	92					2																	230450627		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.chr2:230450627C>A	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.794G>T	2.37:g.230450627C>A	ENSP00000345229:p.Gly265Val		Somatic				DNER_ENST00000482831.1_5'UTR	p.G265V	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	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)	4	928	-		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)	265					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.794G>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140590	0.56936	.	.	ENSG00000187957	ENST00000341772	D	0.85258	-1.96	5.67	5.67	0.87782	.	0.097289	0.64402	D	0.000001	D	0.86381	0.5919	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.87066	0.2156	10	0.42905	T	0.14	.	19.7613	0.96319	0.0:1.0:0.0:0.0	.	265	Q8NFT8	DNER_HUMAN	V	265	ENSP00000345229:G265V	ENSP00000345229:G265V	G	-	2	0	DNER	230158871	1.000000	0.71417	0.985000	0.45067	0.548000	0.35241	4.174000	0.58256	2.661000	0.90470	0.655000	0.94253	GGG		0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	82	6	82	---	---	---	---	A	230450627	C	A	230450627	3	1	73	1	0	0	0	0	1	0	0	0	4667	623	22	1	1459	1	DNER	2	230450627	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4792873	230450627	12748746	91	3640										
ALPPL2	251	broad.mit.edu	37	chr2	233273012	233273012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccgaaagtacatgtttccCatggggaccccagaccctga	11	13	0	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.chr2:233273012C>A	ENST00000295453.3	+	6	736	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	228					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)	ACATGTTTCCCATGGGGACCC	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(682-684)ccC>ccA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						89	98	95					2																	233273012		2200	4297	6497	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273012C>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.684C>A	2.37:g.233273012C>A			Somatic					p.P228P	NM_031313.2	NP_112603.2	WXS	Illumina GAIIx	Phase_I	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)	6	736	+		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)	228					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.684C>A	CCDS2491.1																																																																																				0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		6	116	6	116	---	---	---	---	A	233273012	C	A	233273012	2	1	73	1	0	0	0	0	0	0	0	1	549	581	21	1		1	ALPPL2	2	233273012	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2822385	233273012	9926361	92	3641										
AGAP1	116987	broad.mit.edu	37	chr2	236617868	236617868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgctgagtcgatctgtccCggagctcaaagtggtgagtg	15	9	2	2	rs139445824	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.chr2:236617868C>A	ENST00000304032.8	+	2	789	c.209C>A	c.(208-210)cCg>cAg	p.P70Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q|AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	70	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGATCTGTCCCGGAGCTCAAA	0.562																																						ENST00000304032.8																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(208-210)cCg>cAg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							186	170	175					2																	236617868		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236617868C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.209C>A	2.37:g.236617868C>A	ENSP00000307634:p.Pro70Gln		Somatic				AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q	p.P70Q	NM_001037131.2	NP_001032208.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ3	AGAP1_HUMAN			2	789	+						Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.209C>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.392003	0.83011	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	3.88	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.48040	0.1478	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.55642	-0.8109	10	0.62326	D	0.03	.	16.4179	0.83748	0.0:1.0:0.0:0.0	.	70;70	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	70;70;70;17;335	ENSP00000387174:P70Q;ENSP00000307634:P70Q;ENSP00000338378:P70Q;ENSP00000385492:P17Q;ENSP00000386897:P335Q	ENSP00000307634:P70Q	P	+	2	0	AGAP1	236282607	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	7.219000	0.78000	2.180000	0.69256	0.558000	0.71614	CCG		0.562	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		5	179	5	179	---	---	---	---	A	236617868	C	A	236617868	3	1	73	1	0	0	0	0	1	0	0	0	366	652	23	1	215	1	AGAP1	2	236617868	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3344856	236617868	6581505	93	3642										
COL6A3	1293	broad.mit.edu	37	chr2	238266526	238266526	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcttgtcctgggttaccCtgaaagcaacatgggaaagg	12	9	1	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.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						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.?(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)		CTGGGTTACCCTGAAAGCAAC	0.527																																						ENST00000295550.4																			1	Unknown(1)	p.?(1)	lung(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.e22-1		collagen, type VI, alpha 3							195	175	182					2																	238266526		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266526C>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.6472-1G>T	2.37:g.238266526C>A			Somatic				COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site		NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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)	22	6924	-		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)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777456	0.49786	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237931265	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	6.981000	0.76166	2.571000	0.86741	0.655000	0.94253	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	7	208	7	208	---	---	---	---	A	238266526	C	A	238266526	5	1	73	1	0	0	0	0	0	0	1	0	3701	695	24	1	3154	1	COL6A3	2	238266526	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1648658	238266526	4932847	94	3643										
STK25	10494	broad.mit.edu	37	chr2	242438544	242438544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcagagtttggaggctcccCcttggccagctcgatggctg	14	12	1	1	rs139865238		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.chr2:242438544C>A	ENST00000316586.4	-	7	980	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	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	211	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)		GGAGGCTCCCCCTTGGCCAGC	0.617																																					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.(631-633)Ggg>Tgg		serine/threonine kinase 25		C	TRP/GLY	1,4405	2.1+/-5.4	0,1,2202	72	79	77		631	5.3	1	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	STK25	NM_006374.3	184	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	211/427	242438544	1,13005	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.chr2:242438544C>A	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.631G>T	2.37:g.242438544C>A	ENSP00000325748:p.Gly211Trp		Somatic				STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	p.G211W	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	WXS	Illumina GAIIx	Phase_I	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)	7	980	-		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)	211			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.631G>T	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.875630|3.875630	0.72180|0.72180	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T|.	0.70516|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;-0.49;-0.49;-0.49;-0.49|.	5.29|5.29	5.29|5.29	0.74685|0.74685	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|D	0.90689|0.90689	0.7079|0.7079	H|H	0.97829|0.97829	4.085|4.085	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	0.93904|0.93904	0.7191|0.7191	10|5	0.87932|.	D|.	0|.	.|.	19.321|19.321	0.94240|0.94240	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	137;134;211;117|.	B4DVS7;A8K6Z3;O00506;B4E185|.	.;.;STK25_HUMAN;.|.	W|S	211;211;211;134;117;134;117;117;117;115;117;117|92	ENSP00000325748:G211W;ENSP00000384162:G211W;ENSP00000385687:G211W;ENSP00000384444:G134W;ENSP00000385541:G134W;ENSP00000444886:G117W;ENSP00000446008:G117W;ENSP00000399212:G117W;ENSP00000417020:G115W;ENSP00000403607:G117W;ENSP00000395104:G117W|.	ENSP00000325748:G211W|.	G|R	-|-	1|3	0|2	STK25|STK25	242087217|242087217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	7.583000|7.583000	0.82559|0.82559	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.617	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	55	5	55	---	---	---	---	A	242438544	C	A	242438544	3	1	73	1	0	0	0	0	1	0	0	0	15293	623	22	1	673	1	STK25	2	242438544	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4172018	242438544	760829	95	3644										
SUMF1	285362	broad.mit.edu	37	chr3	4452617	4452617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtccattcccatgcgttccCcactatgttgtataagccat	6	13	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.chr3:4452617C>A	ENST00000272902.5	-	7	921	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	296					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)		CATGCGTTCCCCACTATGTTG	0.413																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(886-888)Ggg>Tgg		sulfatase modifying factor 1							195	173	180					3																	4452617		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452617C>A	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.886G>T	3.37:g.4452617C>A	ENSP00000272902:p.Gly296Trp		Somatic				SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W	p.G296W	NM_182760.3	NP_877437.2	WXS	Illumina GAIIx	Phase_I	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	921	-		Melanoma(143;0.068)|Colorectal(144;0.233)	296					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.886G>T	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516542	0.44763	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94	5.42	4.55	0.56014	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.048550	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99764	4.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;1.0;1.0;1.0	D	0.96141	0.9100	10	0.87932	D	0	-19.1944	13.13	0.59375	0.0:0.9212:0.0:0.0788	.	164;271;296;296	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	W	296;296;296;271;164;296	ENSP00000440421:G296W;ENSP00000272902:G296W;ENSP00000373355:G271W;ENSP00000410060:G164W;ENSP00000384977:G296W	ENSP00000272902:G296W	G	-	1	0	SUMF1	4427617	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	6.955000	0.76007	1.293000	0.44690	-0.258000	0.10820	GGG		0.413	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		7	219	7	219	---	---	---	---	A	4452617	C	A	4452617	3	1	73	1	0	0	0	0	1	0	0	0	15382	623	22	1	250	1	SUMF1	3	4452617	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		4452617	193569813	96	3645										
THUMPD3	25917	broad.mit.edu	37	chr3	9412787	9412787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacttggctggaaaactccCatggtcaaaccccttaaaag	8	11	1	1	rs150258248		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.chr3:9412787C>A	ENST00000345094.3	+	4	708	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	125						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)		GGAAAACTCCCATGGTCAAAC	0.323																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(373-375)cCa>cAa		THUMP domain containing 3							78	92	87					3																	9412787		2192	4296	6488	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9412787C>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.374C>A	3.37:g.9412787C>A	ENSP00000339532:p.Pro125Gln		Somatic				THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|SETD5-AS1_ENST00000468186.1_RNA	p.P125Q	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	WXS	Illumina GAIIx	Phase_I	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	708	+	Medulloblastoma(99;0.227)		125					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.374C>A	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730255	0.89390	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.49432	0.78;0.78;0.78	5.94	5.94	0.96194	.	0.150525	0.64402	D	0.000008	T	0.57080	0.2029	M	0.72894	2.215	0.80722	D	1	P	0.38370	0.628	B	0.41988	0.372	T	0.59511	-0.7441	10	0.66056	D	0.02	-7.3225	19.9583	0.97232	0.0:1.0:0.0:0.0	.	125	Q9BV44	THUM3_HUMAN	Q	125	ENSP00000395893:P125Q;ENSP00000339532:P125Q;ENSP00000424064:P125Q	ENSP00000339532:P125Q	P	+	2	0	THUMPD3	9387787	0.994000	0.37717	0.977000	0.42913	0.881000	0.50899	5.374000	0.66167	2.826000	0.97356	0.561000	0.74099	CCA		0.323	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		6	186	6	186	---	---	---	---	A	9412787	C	A	9412787	3	1	73	1	0	0	0	0	1	0	0	0	15881	594	21	1	384	1	THUMPD3	3	9412787	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4960170	9412787	188609643	97	3646										
BTD	686	broad.mit.edu	37	chr3	15677018	15677018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgccctgggagcccacacCggggaggagagcgtggctga	18	11	0	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.chr3:15677018C>A	ENST00000303498.5	+	2	241	c.132C>A	c.(130-132)acC>acA	p.T44T	BTD_ENST00000383778.4_Silent_p.T24T|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000437172.1_Silent_p.T46T	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	44					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						GAGCCCACACCGGGGAGGAGA	0.532																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(70-72)acC>acA		biotinidase							145	137	140					3																	15677018		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677018C>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.132C>A	3.37:g.15677018C>A			Somatic				BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000303498.5_Silent_p.T44T|BTD_ENST00000437172.1_Silent_p.T46T	p.T24T	NM_001281725.1	NP_001268654.1	WXS	Illumina GAIIx	Phase_I	P43251	BTD_HUMAN			2	430	+			44					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.72C>A	CCDS2628.1																																																																																				0.532	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		5	151	5	151	---	---	---	---	A	15677018	C	A	15677018	2	1	73	1	0	0	0	0	0	0	0	1	1550	639	23	1		1	BTD	3	15677018	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6264231	15677018	182345412	98	3647										
TRIM71	131405	broad.mit.edu	37	chr3	32915352	32915352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgctctgtacccatctgtCgtgagtgcacaatgggccgg	12	12	2	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.chr3:32915352C>A	ENST00000383763.5	+	2	958	c.895C>A	c.(895-897)Cgt>Agt	p.R299S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	299					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						ACCCATCTGTCGTGAGTGCAC	0.592																																						ENST00000383763.5																			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.(895-897)Cgt>Agt		tripartite motif containing 71, E3 ubiquitin protein ligase							256	261	259					3																	32915352		2077	4228	6305	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32915352C>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.895C>A	3.37:g.32915352C>A	ENSP00000373272:p.Arg299Ser		Somatic					p.R299S	NM_001039111.1	NP_001034200.1	WXS	Illumina GAIIx	Phase_I	Q2Q1W2	LIN41_HUMAN			2	958	+									Missense_Mutation	SNP	ENST00000383763.5	37	c.895C>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933584	0.52866	.	.	ENSG00000206557	ENST00000383763	T	0.41065	1.01	5.53	4.63	0.57726	Zinc finger, B-box (3);	0.000000	0.64402	U	0.000009	T	0.51466	0.1676	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42327	-0.9458	10	0.10636	T	0.68	-11.7095	14.3351	0.66584	0.1541:0.8459:0.0:0.0	.	299	Q2Q1W2	LIN41_HUMAN	S	299	ENSP00000373272:R299S	ENSP00000373272:R299S	R	+	1	0	TRIM71	32890356	1.000000	0.71417	0.839000	0.33178	0.979000	0.70002	4.061000	0.57485	1.416000	0.47057	0.655000	0.94253	CGT		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		6	409	6	409	---	---	---	---	A	32915352	C	A	32915352	3	1	73	1	0	0	0	0	1	0	0	0	16541	884	31	3	901	3	TRIM71	3	32915352	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	17238334	32915352	165107078	99	3648										
GOLGA4	2803	broad.mit.edu	37	chr3	37323637	37323637	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgccagttttgatccaccCtctgatatggatagcgaggc	10	11	1	2	rs150573420		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.chr3:37323637C>A	ENST00000361924.2	+	3	725	c.351C>A	c.(349-351)ccC>ccA	p.P117P	GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	117					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						TTGATCCACCCTCTGATATGG	0.448																																						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.(349-351)ccC>ccA		golgin A4							99	95	96					3																	37323637		2203	4300	6503	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37323637C>A	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.351C>A	3.37:g.37323637C>A			Somatic				GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	p.P117P	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			3	725	+			117					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.351C>A	CCDS2666.1																																																																																				0.448	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		6	128	6	128	---	---	---	---	A	37323637	C	A	37323637	2	1	73	1	0	0	0	0	0	0	0	1	6555	668	24	1		1	GOLGA4	3	37323637	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4408285	37323637	160698793	100	3649										
ACAA1	30	broad.mit.edu	37	chr3	38164548	38164548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggacctcactcagttcccaGggtattcaaagacggcagcg	12	12	3	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.chr3:38164548G>T	ENST00000333167.8	-	12	1437	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	422					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)		TCAGTTCCCAGGGTATTCAAA	0.542																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1264-1266)cCt>cAt		acetyl-CoA acyltransferase 1							79	70	73					3																	38164548		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.chr3:38164548G>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.1265C>A	3.37:g.38164548G>T	ENSP00000333664:p.Pro422His		Somatic				ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H	p.P422H	NM_001607.3	NP_001598.1	WXS	Illumina GAIIx	Phase_I	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	12	1437	-			422					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.1265C>A	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233899|4.233899	0.79688|0.79688	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000452171|ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122	.|D;D;D	.|0.94330	.|-3.4;-3.32;-2.74	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Thiolase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94324|0.94324	0.8176|0.8176	L|L	0.35341|0.35341	1.055|1.055	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.996	.|D;D;P	.|0.97110	.|0.966;1.0;0.832	D|D	0.91652|0.91652	0.5335|0.5335	5|10	.|0.15499	.|T	.|0.54	-16.1445|-16.1445	19.359|19.359	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|381;329;422	.|C9JDE9;G5E935;P09110	.|.;.;THIK_HUMAN	M|H	235|422;329;381;354	.|ENSP00000333664:P422H;ENSP00000301810:P329H;ENSP00000395183:P381H	.|ENSP00000301810:P329H	L|P	-|-	1|2	2|0	ACAA1|ACAA1	38139552|38139552	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.767000|0.767000	0.43475|0.43475	7.739000|7.739000	0.84976|0.84976	2.584000|2.584000	0.87258|0.87258	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.542	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		6	110	6	110	---	---	---	---	T	38164548	G	T	38164548	3	4	73	1	0	0	0	0	1	0	0	0	104	1000	35	1	13	1	ACAA1	3	38164548	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	840911	38164548	159857882	101	3650										
CCR2	729230	broad.mit.edu	37	chr3	46399335	46399335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcactctgctgcaaatgagtGggtctttgggaatgcaatgt	12	7	3	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.chr3:46399335G>T	ENST00000400888.2	+	1	356	c.317G>T	c.(316-318)tGg>tTg	p.W106L	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000292301.4_Missense_Mutation_p.W106L			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	106					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)		GCAAATGAGTGGGTCTTTGGG	0.443																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(316-318)tGg>tTg		chemokine (C-C motif) receptor 2							314	287	295					3																	46399335		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.chr3:46399335G>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.317G>T	3.37:g.46399335G>T	ENSP00000383681:p.Trp106Leu		Somatic				CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000400888.2_Missense_Mutation_p.W106L	p.W106L	NM_001123041.2	NP_001116513.2	WXS	Illumina GAIIx	Phase_I	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	802	+			106					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.317G>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455805	0.43634	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.41	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.93048	0.7787	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95175	0.8294	10	0.87932	D	0	.	13.9285	0.63978	0.0:0.0:0.8467:0.1533	.	106;106	P41597;Q4VBL2	CCR2_HUMAN;.	L	106	ENSP00000399285:W106L;ENSP00000292301:W106L;ENSP00000396736:W106L;ENSP00000383681:W106L	ENSP00000292301:W106L	W	+	2	0	CCR2	46374339	1.000000	0.71417	0.050000	0.19076	0.049000	0.14656	7.969000	0.87988	0.966000	0.38159	0.650000	0.86243	TGG		0.443	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		8	439	8	439	---	---	---	---	T	46399335	G	T	46399335	3	4	73	1	0	0	0	0	1	0	0	0	2941	1357	47	1	319	1	CCR2	3	46399335	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8234787	46399335	151623095	102	3651										
SETD2	29072	broad.mit.edu	37	chr3	47163303	47163303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctccctggaagcaaatccCtttcctgaatcaggaaggtc	8	12	2	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.chr3:47163303C>A	ENST00000409792.3	-	3	2865	c.2823G>T	c.(2821-2823)aaG>aaT	p.K941N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	941					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)		AAGCAAATCCCTTTCCTGAAT	0.408			"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.(2821-2823)aaG>aaT		SET domain containing 2							115	117	116					3																	47163303		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.chr3:47163303C>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.2823G>T	3.37:g.47163303C>A	ENSP00000386759:p.Lys941Asn		Somatic					p.K941N	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2865	-		Acute lymphoblastic leukemia(5;0.0169)	941					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2823G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146611	0.21288	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90324	-2.65;1.18	4.97	-2.77	0.05877	.	0.441905	0.20997	N	0.081936	T	0.80433	0.4622	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.26635	0.155;0.155	B;B	0.28916	0.096;0.06	T	0.65533	-0.6145	10	0.18276	T	0.48	.	12.7472	0.57287	0.0:0.4264:0.0:0.5736	.	941;941	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	941;941;941;897	ENSP00000386759:K941N;ENSP00000416401:K897N	ENSP00000386759:K941N	K	-	3	2	SETD2	47138307	0.022000	0.18835	0.967000	0.41034	0.890000	0.51754	-0.277000	0.08502	-0.468000	0.06922	0.650000	0.86243	AAG		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		6	145	6	145	---	---	---	---	A	47163303	C	A	47163303	3	1	73	1	0	0	0	0	1	0	0	0	14131	680	24	1	4947	1	SETD2	3	47163303	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	763968	47163303	150859127	103	3652										
COL7A1	1294	broad.mit.edu	37	chr3	48612668	48612668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgttctcctttctctcccCgttctccctgaaatgcaaat	4	16	3	1	rs2229825	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.chr3:48612668C>A	ENST00000328333.8	-	74	6295	c.6188G>T	c.(6187-6189)cGg>cTg	p.R2063L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form). {ECO:0000269|PubMed:10232406, ECO:0000269|PubMed:20598510, ECO:0000269|PubMed:9326325}.		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.R2063Q(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)		TTTCTCTCCCCGTTCTCCCTG	0.632																																						ENST00000328333.8																			1	Substitution - Missense(1)	p.R2063Q(1)	endometrium(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.(6187-6189)cGg>cTg		collagen, type VII, alpha 1							139	144	142					3																	48612668		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612668C>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.6188G>T	3.37:g.48612668C>A	ENSP00000332371:p.Arg2063Leu		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	p.R2063L	NM_000094.3	NP_000085.1	WXS	Illumina GAIIx	Phase_I	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	74	6295	-			2063		R -> W (in HS-DEB; also in a mild form).	Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6188G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242361	0.39598	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96940	-4.18;-4.18	5.22	5.22	0.72569	.	0.224068	0.22437	N	0.060075	D	0.97049	0.9036	L	0.54908	1.71	0.29519	N	0.853638	D	0.63046	0.992	P	0.62298	0.9	D	0.94165	0.7418	10	0.35671	T	0.21	.	17.7837	0.88531	0.0:1.0:0.0:0.0	.	2063	Q02388	CO7A1_HUMAN	L	2063;2031	ENSP00000332371:R2063L;ENSP00000412569:R2031L	ENSP00000332371:R2063L	R	-	2	0	COL7A1	48587672	0.537000	0.26386	0.995000	0.50966	0.943000	0.58893	2.660000	0.46749	2.426000	0.82243	0.563000	0.77884	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		6	149	6	149	---	---	---	---	A	48612668	C	A	48612668	3	1	73	1	0	0	0	0	1	0	0	0	3704	652	23	1	2826	1	COL7A1	3	48612668	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1449365	48612668	149409762	104	3653										
TEX264	51368	broad.mit.edu	37	chr3	51733489	51733489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagatccatttcatgtgccCactggcacggcagggagact	11	13	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.chr3:51733489C>A	ENST00000415259.1	+	4	1629	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	183						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)		TTCATGTGCCCACTGGCACGG	0.557																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(547-549)cCa>cAa		testis expressed 264							135	132	133					3																	51733489		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51733489C>A	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.548C>A	3.37:g.51733489C>A	ENSP00000396628:p.Pro183Gln		Somatic				TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q	p.P183Q			WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	4	1629	+			183					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.548C>A	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021375	0.93462	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	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	0.00311	-1.1827	10	0.87932	D	0	-22.8761	17.1567	0.86793	0.0:1.0:0.0:0.0	.	183;183	Q53GI2;Q9Y6I9	.;TX264_HUMAN	Q	183	ENSP00000408186:P183Q;ENSP00000340969:P183Q;ENSP00000396628:P183Q;ENSP00000378497:P183Q;ENSP00000398802:P183Q;ENSP00000407151:P183Q;ENSP00000415957:P183Q	ENSP00000340969:P183Q	P	+	2	0	TEX264	51708529	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.555000	0.82223	2.309000	0.77851	0.491000	0.48974	CCA		0.557	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		7	168	7	168	---	---	---	---	A	51733489	C	A	51733489	3	1	73	1	0	0	0	0	1	0	0	0	15780	594	21	1	558	1	TEX264	3	51733489	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3120821	51733489	146288941	105	3654										
NISCH	11188	broad.mit.edu	37	chr3	52526356	52526356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggaggtgccaggtggccCggctagagccagccagggcc	19	12	0	1	rs544727711	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.chr3:52526356C>A	ENST00000479054.1	+	22	4445	c.4373C>A	c.(4372-4374)cCg>cAg	p.P1458Q	STAB1_ENST00000321725.6_5'Flank|NISCH_ENST00000345716.4_Missense_Mutation_p.P1458Q			Q9Y2I1	NISCH_HUMAN	nischarin	1458					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)	CCAGGTGGCCCGGCTAGAGCC	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.(4372-4374)cCg>cAg		nischarin							126	136	133					3																	52526356		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526356C>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.4373C>A	3.37:g.52526356C>A	ENSP00000418232:p.Pro1458Gln		Somatic				NISCH_ENST00000479054.1_Missense_Mutation_p.P1458Q	p.P1458Q	NM_007184.3	NP_009115	WXS	Illumina GAIIx	Phase_I	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	4507	+			1458					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4373C>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728197	0.30593	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196	T;T	0.07327	3.2;3.2	5.37	-0.0745	0.13731	.	0.484283	0.20347	N	0.094133	T	0.04724	0.0128	N	0.19112	0.55	0.35971	D	0.835289	B	0.19445	0.036	B	0.14578	0.011	T	0.31586	-0.9938	10	0.54805	T	0.06	-1.0086	5.4243	0.16417	0.1259:0.5604:0.0:0.3137	.	1458	Q9Y2I1	NISCH_HUMAN	Q	1458;1458;382	ENSP00000418232:P1458Q;ENSP00000339958:P1458Q	ENSP00000339958:P1458Q	P	+	2	0	NISCH	52501396	0.058000	0.20735	0.009000	0.14445	0.796000	0.44982	0.740000	0.26188	-0.340000	0.08388	0.561000	0.74099	CCG		0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		7	292	7	292	---	---	---	---	A	52526356	C	A	52526356	3	1	73	1	0	0	0	0	1	0	0	0	10432	652	23	1	4455	1	NISCH	3	52526356	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	792867	52526356	145496074	106	3655										
PTPRG	5793	broad.mit.edu	37	chr3	62142882	62142882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcttccggagacccgtccCcatctcttaccatcaggtag	8	15	3	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.chr3:62142882C>A	ENST00000474889.1	+	7	1201	c.824C>A	c.(823-825)cCc>cAc	p.P275H	PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	275	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)		AGACCCGTCCCCATCTCTTAC	0.483																																						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.(823-825)cCc>cAc		protein tyrosine phosphatase, receptor type, G							101	96	98					3																	62142882		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.chr3:62142882C>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.824C>A	3.37:g.62142882C>A	ENSP00000418112:p.Pro275His		Somatic				PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	p.P275H	NM_002841.3	NP_002832.3	WXS	Illumina GAIIx	Phase_I	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	7	1201	+			275			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.824C>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273584	0.59649	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66280	-0.2;-0.2	5.95	5.95	0.96441	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.112129	0.64402	D	0.000006	T	0.67505	0.2900	L	0.37800	1.135	0.45718	D	0.998628	P;P	0.51653	0.919;0.947	P;P	0.52881	0.678;0.712	T	0.67975	-0.5531	10	0.62326	D	0.03	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	275;275	P23470-2;P23470	.;PTPRG_HUMAN	H	275	ENSP00000418112:P275H;ENSP00000295874:P275H	ENSP00000295874:P275H	P	+	2	0	PTPRG	62117922	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.647000	0.54403	2.826000	0.97356	0.563000	0.77884	CCC		0.483	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		5	77	5	77	---	---	---	---	A	62142882	C	A	62142882	3	1	73	1	0	0	0	0	1	0	0	0	12802	623	22	1	850	1	PTPRG	3	62142882	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9616526	62142882	135879548	107	3656										
PDZRN3	23024	broad.mit.edu	37	chr3	73433778	73433778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgagctccaggagctcgcGgaagcgctcgcactcgtcca	12	15	0	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.chr3:73433778G>T	ENST00000263666.4	-	10	2053	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647					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)		AGGAGCTCGCGGAAGCGCTCG	0.662																																						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.(1939-1941)Cgc>Agc		PDZ domain containing ring finger 3							55	61	59					3																	73433778		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433778G>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.1939C>A	3.37:g.73433778G>T	ENSP00000263666:p.Arg647Ser		Somatic				PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	p.R647S	NM_015009.1	NP_055824.1	WXS	Illumina GAIIx	Phase_I	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	2053	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	647					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1939C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530353	0.64860	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13420	2.59;3.29;3.19;3.19;3.3;3.26	4.28	4.28	0.50868	.	0.058403	0.64402	D	0.000002	T	0.28863	0.0716	M	0.71036	2.16	0.58432	D	0.999999	P;P;P;P	0.40266	0.487;0.478;0.71;0.478	P;B;P;B	0.49561	0.615;0.211;0.547;0.211	T	0.05146	-1.0903	10	0.54805	T	0.06	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	S	647;369;304;304;364;345	ENSP00000263666:R647S;ENSP00000442026:R369S;ENSP00000418168:R304S;ENSP00000418484:R304S;ENSP00000418624:R364S;ENSP00000419250:R345S	ENSP00000263666:R647S	R	-	1	0	PDZRN3	73516468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.212000	0.71576	0.655000	0.94253	CGC		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	114	5	114	---	---	---	---	T	73433778	G	T	73433778	3	4	73	1	0	0	0	0	1	0	0	0	11709	1116	39	1	1265	1	PDZRN3	3	73433778	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11290896	73433778	124588652	108	3657										
PDZRN3	23024	broad.mit.edu	37	chr3	73440205	73440205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaatgtcgtcttcatcgtcCgtccggtagcacacagtgag	10	13	2	1	rs542152332		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.chr3:73440205C>A	ENST00000263666.4	-	6	1431	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2. {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)		CTTCATCGTCCGTCCGGTAGC	0.448																																						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.(1315-1317)acG>acT		PDZ domain containing ring finger 3							273	254	260					3																	73440205		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440205C>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.1317G>T	3.37:g.73440205C>A			Somatic				PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T|PDZRN3_ENST00000466348.1_5'UTR	p.T439T	NM_015009.1	NP_055824.1	WXS	Illumina GAIIx	Phase_I	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)	6	1431	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	439			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1317G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	6.183	0.401985	0.11696	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58075	-0.7700	4	.	.	.	.	8.2678	0.31824	0.0712:0.2787:0.0711:0.5789	.	.	.	.	L	36	.	.	R	-	2	0	PDZRN3	73522895	0.000000	0.05858	0.024000	0.17045	0.909000	0.53808	-8.567000	0.00019	-2.946000	0.00295	-1.004000	0.02495	CGG		0.448	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		7	375	7	375	---	---	---	---	A	73440205	C	A	73440205	2	1	73	1	0	0	0	0	0	0	0	1	11709	639	23	1		1	PDZRN3	3	73440205	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6427	73440205	124582225	109	3658										
CNTN3	5067	broad.mit.edu	37	chr3	74414719	74414719	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtccatgttaccttacctCtagcaccagggctgctccat	8	14	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.chr3:74414719C>A	ENST00000263665.6	-	8	1108	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	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)		TACCTTACCTCTAGCACCAGG	0.498																																						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.(1081-1083)Gag>Tag		contactin 3 (plasmacytoma associated)							209	204	206					3																	74414719		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414719C>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.1081G>T	3.37:g.74414719C>A	ENSP00000263665:p.Glu361*		Somatic					p.E361*	NM_020872.1	NP_065923.1	WXS	Illumina GAIIx	Phase_I	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	1108	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	361			Ig-like C2-type 4.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.1081G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814525	0.96982	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.4631	0.55743	0.0:0.9233:0.0:0.0766	.	.	.	.	X	361	.	ENSP00000263665:E361X	E	-	1	0	CNTN3	74497409	1.000000	0.71417	0.984000	0.44739	0.542000	0.35054	5.730000	0.68546	2.501000	0.84356	0.591000	0.81541	GAG		0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	316	8	316	---	---	---	---	A	74414719	C	A	74414719	4	1	73	1	0	0	0	0	0	1	0	0	3642	922	32	3	2065	3	CNTN3	3	74414719	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	974514	74414719	123607711	110	3659										
ROBO2	6092	broad.mit.edu	37	chr3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaccatgtaaagaccacccTctatactgtaagaggactgc	7	11	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.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	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		Somatic				ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	p.L579H	NM_002942.4	NP_002933.1	WXS	Illumina GAIIx	Phase_I	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	33	44	---	---	---	---	A	77614158	T	A	77614158	3	1	73	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	3199439	77614158	120408272	111	3660										
TOPBP1	11073	broad.mit.edu	37	chr3	133342926	133342926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgctcggaaacaatgtgTactcctctttcttttacaga	7	10	2	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.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			Somatic					p.V966V	NM_007027.3	NP_008958.2	WXS	Illumina GAIIx	Phase_I	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	21	43	---	---	---	---	C	133342926	T	C	133342926	2	2	73	1	0	0	0	0	0	0	0	1	16366	1625	57	2		2	TOPBP1	3	133342926	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	55728768	133342926	64679504	112	3661										
ZIC1	7545	broad.mit.edu	37	chr3	147128330	147128330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcgggccacctcctcttccCcgggcttcacgagcaggctg	12	18	2	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.chr3:147128330C>A	ENST00000282928.4	+	1	1160	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	144					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						CTCCTCTTCCCCGGGCTTCAC	0.721																																						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.(430-432)cCc>cAc		Zic family member 1							11	15	14					3																	147128330		2193	4287	6480	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.chr3:147128330C>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.431C>A	3.37:g.147128330C>A	ENSP00000282928:p.Pro144His		Somatic					p.P144H	NM_003412.3	NP_003403.2	WXS	Illumina GAIIx	Phase_I	Q15915	ZIC1_HUMAN			1	1160	+			144					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.431C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911960	0.72983	.	.	ENSG00000152977	ENST00000282928	T	0.48522	0.81	3.34	3.34	0.38264	.	0.058366	0.64402	D	0.000001	T	0.67353	0.2884	M	0.80616	2.505	0.58432	D	0.999999	D	0.64830	0.994	D	0.64042	0.921	T	0.75371	-0.3341	10	0.87932	D	0	.	15.1964	0.73092	0.0:1.0:0.0:0.0	.	144	Q15915	ZIC1_HUMAN	H	144	ENSP00000282928:P144H	ENSP00000282928:P144H	P	+	2	0	ZIC1	148611020	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.062000	0.76706	1.878000	0.54408	0.542000	0.68232	CCC		0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		4	20	4	20	---	---	---	---	A	147128330	C	A	147128330	3	1	73	1	0	0	0	0	1	0	0	0	17675	623	22	1	433	1	ZIC1	3	147128330	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13785404	147128330	50894100	113	3662										
PLCH1	23007	broad.mit.edu	37	chr3	155200582	155200582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggagccaaatgctgctttGgggagagagacttgctggga	17	7	0	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.chr3:155200582G>T	ENST00000340059.7	-	23	3256	c.3257C>A	c.(3256-3258)cCa>cAa	p.P1086Q	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1086					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)			ATGCTGCTTTGGGGAGAGAGA	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.(3142-3144)cCa>cAa		phospholipase C, eta 1							187	188	187					3																	155200582		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.chr3:155200582G>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.3257C>A	3.37:g.155200582G>T	ENSP00000345988:p.Pro1086Gln		Somatic				PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1086Q|PLCH1_ENST00000447496.2_3'UTR	p.P1048Q			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3500	-			1086					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3143C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655069	0.29425	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.57	3.77	0.43336	.	0.565071	0.17807	N	0.161349	T	0.13157	0.0319	L	0.32530	0.975	0.09310	N	1	B;P	0.34780	0.374;0.468	B;B	0.35470	0.203;0.1	T	0.20472	-1.0274	10	0.17369	T	0.5	.	4.5293	0.11997	0.1673:0.0:0.5211:0.3117	.	1048;1086	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Q	1048;1086;1048;1048	ENSP00000417502:P1048Q;ENSP00000345988:P1086Q;ENSP00000335469:P1048Q;ENSP00000412977:P1048Q	ENSP00000335469:P1048Q	P	-	2	0	PLCH1	156683276	0.025000	0.19082	0.001000	0.08648	0.011000	0.07611	2.073000	0.41519	0.705000	0.31890	-0.282000	0.10007	CCA		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	221	7	221	---	---	---	---	T	155200582	G	T	155200582	3	4	73	1	0	0	0	0	1	0	0	0	12037	1348	47	1	1828	1	PLCH1	3	155200582	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8072252	155200582	42821848	114	3663										
LXN	56925	broad.mit.edu	37	chr3	158390192	158390192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacaccctgtgcggggtccCctgctggtagttgatgtagt	13	10	0	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.chr3:158390192C>A	ENST00000264265.3	-	1	290	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	26	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)			TGCGGGGTCCCCTGCTGGTAG	0.592											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.(76-78)Ggg>Tgg		latexin							141	137	138					3																	158390192		2203	4300	6503	SO:0001583	missense	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158390192C>A	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.76G>T	3.37:g.158390192C>A	ENSP00000264265:p.Gly26Trp		Somatic	OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1793	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	p.G26W	NM_020169.3	NP_064554.3	WXS	Illumina GAIIx	Phase_I	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	290	-			26					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.76G>T	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215143	0.95104	.	.	ENSG00000079257	ENST00000264265	T	0.65732	-0.17	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82240	-0.0555	10	0.87932	D	0	-17.7104	18.9642	0.92689	0.0:1.0:0.0:0.0	.	26	Q9BS40	LXN_HUMAN	W	26	ENSP00000264265:G26W	ENSP00000264265:G26W	G	-	1	0	LXN	159872886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.521000	0.73778	2.805000	0.96524	0.655000	0.94253	GGG		0.592	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		7	129	7	129	---	---	---	---	A	158390192	C	A	158390192	3	1	73	1	0	0	0	0	1	0	0	0	9089	623	22	1	616	1	LXN	3	158390192	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3189610	158390192	39632238	115	3664										
NCEH1	57552	broad.mit.edu	37	chr3	172428830	172428830	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggaaagggcgataccaccCggagacctccggcaactttc	12	13	0	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.chr3:172428830C>A	ENST00000475381.1	-	0	178				NCEH1_ENST00000538775.1_Missense_Mutation_p.R14L|NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CGATACCACCCGGAGACCTCC	0.642											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538775.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(40-42)cGg>cTg		neutral cholesterol ester hydrolase 1							30	32	31					3																	172428830		2203	4300	6503	SO:0001623	5_prime_UTR_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172428830C>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-56G>T	3.37:g.172428830C>A			Somatic	OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1900	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L	p.R14L	NM_001146276.1	NP_001139748.1	WXS	Illumina GAIIx	Phase_I	Q6PIU2	NCEH1_HUMAN			1	178	-			0					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.41G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.02|11.02	1.516902|1.516902	0.27123|0.27123	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000538775;ENST00000273512	.|T;T	.|0.04119	.|3.7;3.7	4.97|4.97	2.03|2.03	0.26663|0.26663	.|.	.|7.686920	.|0.00496	.|N	.|0.000146	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.08118|0.08118	0|0	0.22710|0.22710	N|N	0.99883|0.99883	.|B	.|0.19200	.|0.034	.|B	.|0.23275	.|0.045	T|T	0.34428|0.34428	-0.9829|-0.9829	5|10	.|0.36615	.|T	.|0.2	6.6157|6.6157	6.5247|6.5247	0.22295|0.22295	0.0:0.6758:0.1508:0.1734|0.0:0.6758:0.1508:0.1734	.|.	.|14	.|F5H7K4	.|.	W|L	5|14	.|ENSP00000442464:R14L;ENSP00000273512:R14L	.|ENSP00000273512:R14L	G|R	-|-	1|2	0|0	NCEH1|NCEH1	173911524|173911524	0.002000|0.002000	0.14202|0.14202	0.010000|0.010000	0.14722|0.14722	0.063000|0.063000	0.16089|0.16089	0.626000|0.626000	0.24492|0.24492	0.807000|0.807000	0.34208|0.34208	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.642	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		4	71	4	71	---	---	---	---	A	172428830	C	A	172428830	1	1	73	0	1	0	0	0	0	0	0	0	10215	652	23	1		1	NCEH1	3	172428830	5'UTR	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	14038638	172428830	25593600	116	3665										
DCUN1D1	54165	broad.mit.edu	37	chr3	182679102	182679102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttctttcaattcttgttcCatcttgggtatctgggcctt	9	9	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.chr3:182679102C>A	ENST00000292782.4	-	4	585	c.432G>T	c.(430-432)atG>atT	p.M144I	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	144	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTCTTGTTCCATCTTGGGTA	0.303																																						ENST00000292782.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(430-432)atG>atT		DCN1, defective in cullin neddylation 1, domain containing 1							290	318	308					3																	182679102		2203	4299	6502	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182679102C>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.432G>T	3.37:g.182679102C>A	ENSP00000292782:p.Met144Ile		Somatic				DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	p.M144I	NM_020640.2	NP_065691.2	WXS	Illumina GAIIx	Phase_I	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	585	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		144			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.432G>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049493	0.55218	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.1	5.1	0.69264	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.03209	-0.39	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24621	-1.0155	9	0.49607	T	0.09	-7.3778	18.8666	0.92294	0.0:1.0:0.0:0.0	.	144	Q96GG9	DCNL1_HUMAN	I	144;104;129	.	ENSP00000292782:M144I	M	-	3	0	DCUN1D1	184161796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.569000	0.60865	2.536000	0.85505	0.591000	0.81541	ATG		0.303	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		10	634	10	634	---	---	---	---	A	182679102	C	A	182679102	3	1	73	1	0	0	0	0	1	0	0	0	4313	594	21	1	363	1	DCUN1D1	3	182679102	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10250272	182679102	15343328	117	3666										
DVL3	1857	broad.mit.edu	37	chr3	183887886	183887886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccgcacccgggggccgccCcttggcccatggctttcccg	13	19	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.chr3:183887886C>A	ENST00000313143.3	+	14	1839	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.P514T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1591-1593)Cct>Act		dishevelled segment polarity protein 3							46	49	48					3																	183887886		2203	4298	6501	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887886C>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1591C>A	3.37:g.183887886C>A	ENSP00000316054:p.Pro531Thr		Somatic				DVL3_ENST00000431765.1_Missense_Mutation_p.P514T|EIF2B5_ENST00000444495.1_Intron	p.P531T	NM_004423.3	NP_004414.3	WXS	Illumina GAIIx	Phase_I	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1839	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		531					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1591C>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039273	0.75617	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04917	3.53;3.58	4.9	4.9	0.64082	Winged helix-turn-helix transcription repressor DNA-binding (1);Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	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	0.91635	0.999;0.998;0.996;0.999	T	0.04825	-1.0924	10	0.87932	D	0	-7.0057	18.427	0.90612	0.0:1.0:0.0:0.0	.	514;363;531;531	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	T	531;531;514	ENSP00000316054:P531T;ENSP00000405885:P514T	ENSP00000316054:P531T	P	+	1	0	DVL3	185370580	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.430000	0.82344	0.561000	0.74099	CCT		0.682	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		5	63	5	63	---	---	---	---	A	183887886	C	A	183887886	3	1	73	1	0	0	0	0	1	0	0	0	4837	623	22	1	1645	1	DVL3	3	183887886	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1208784	183887886	14134544	118	3667										
EHHADH	1962	broad.mit.edu	37	chr3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttcaggggagggtttccCtgagaagccagtttttttag	12	7	2	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.chr3:184910074C>A	ENST00000231887.3	-	7	2187	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704					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.Q704H(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)			GAGGGTTTCCCTGAGAAGCCA	0.463																																						ENST00000231887.3																			1	Substitution - Missense(1)	p.Q704H(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(2110-2112)caG>caT		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						72	79	76					3																	184910074		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.chr3:184910074C>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.2112G>T	3.37:g.184910074C>A	ENSP00000231887:p.Gln704His		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H	p.Q704H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	2187	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		704					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.2112G>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668614	0.14776	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.82526	-1.62;-1.62	5.91	2.98	0.34508	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.412335	0.26684	N	0.023022	T	0.70081	0.3183	L	0.28014	0.82	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.60959	-0.7159	10	0.54805	T	0.06	-0.4454	6.2556	0.20872	0.0:0.5971:0.1213:0.2816	.	704	Q08426	ECHP_HUMAN	H	704;608	ENSP00000231887:Q704H;ENSP00000387746:Q608H	ENSP00000231887:Q704H	Q	-	3	2	EHHADH	186392768	0.001000	0.12720	0.797000	0.32132	0.789000	0.44602	-0.036000	0.12185	0.314000	0.23086	-0.176000	0.13171	CAG		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			6	101	6	101	---	---	---	---	A	184910074	C	A	184910074	3	1	73	1	0	0	0	0	1	0	0	0	4982	680	24	1	63	1	EHHADH	3	184910074	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1022188	184910074	13112356	119	3668										
EHHADH	1962	broad.mit.edu	37	chr3	184922358	184922358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatatagaaacagctcctcCtccttcttgatgcccacttc	5	14	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.chr3:184922358C>A	ENST00000231887.3	-	6	831	c.756G>T	c.(754-756)gaG>gaT	p.E252D	EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	252	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)			ACAGCTCCTCCTCCTTCTTGA	0.527																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(754-756)gaG>gaT		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						136	133	134					3																	184922358		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.chr3:184922358C>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.756G>T	3.37:g.184922358C>A	ENSP00000231887:p.Glu252Asp		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	p.E252D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	831	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		252			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.756G>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690519	0.48097	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.76709	-1.04;-1.04	5.39	-0.698	0.11280	.	0.353101	0.24927	N	0.034482	D	0.87325	0.6149	M	0.88450	2.955	0.46222	D	0.998937	D	0.89917	1.0	D	0.85130	0.997	D	0.85497	0.1189	10	0.87932	D	0	-26.0283	10.4002	0.44225	0.0:0.539:0.0:0.461	.	252	Q08426	ECHP_HUMAN	D	252;252;156	ENSP00000231887:E252D;ENSP00000387746:E156D	ENSP00000231887:E252D	E	-	3	2	EHHADH	186405052	0.001000	0.12720	0.008000	0.14137	0.416000	0.31233	-0.137000	0.10389	-0.500000	0.06614	0.650000	0.86243	GAG		0.527	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			7	244	7	244	---	---	---	---	A	184922358	C	A	184922358	3	1	73	1	0	0	0	0	1	0	0	0	4982	680	24	1	1423	1	EHHADH	3	184922358	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	12284	184922358	13100072	120	3669										
EVC2	132884	broad.mit.edu	37	chr4	5687153	5687153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgaggctctccccgttccCgaggtctccagcctggagcg	12	16	2	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.chr4:5687153C>A	ENST00000344408.5	-	6	813	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	EVC2_ENST00000310917.2_Missense_Mutation_p.G174W|EVC2_ENST00000344938.1_Missense_Mutation_p.G254W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	254					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)		p.G254W(1)		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						TCCCCGTTCCCGAGGTCTCCA	0.572																																						ENST00000310917.2																			1	Substitution - Missense(1)	p.G254W(1)	lung(1)	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.(520-522)Ggg>Tgg		Ellis van Creveld syndrome 2							124	115	118					4																	5687153		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5687153C>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.760G>T	4.37:g.5687153C>A	ENSP00000342144:p.Gly254Trp		Somatic				EVC2_ENST00000344938.1_Missense_Mutation_p.G254W|EVC2_ENST00000344408.5_Missense_Mutation_p.G254W	p.G174W	NM_001166136.1	NP_001159608.1	WXS	Illumina GAIIx	Phase_I	Q86UK5	LBN_HUMAN			6	1251	-			254					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.520G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409055	0.11812	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77229	-1.08;-1.08;-1.08	4.52	-5.77	0.02369	.	0.447835	0.23038	N	0.052644	T	0.52980	0.1768	N	0.25144	0.715	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.30563	-0.9974	10	0.33141	T	0.24	-3.1141	3.5748	0.07930	0.1187:0.2023:0.1173:0.5617	.	254	Q86UK5	LBN_HUMAN	W	254;174;254	ENSP00000339954:G254W;ENSP00000311683:G174W;ENSP00000342144:G254W	ENSP00000311683:G174W	G	-	1	0	EVC2	5738054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.753000	0.04792	-1.431000	0.01982	-1.707000	0.00718	GGG		0.572	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		4	111	4	111	---	---	---	---	A	5687153	C	A	5687153	3	1	73	1	0	0	0	0	1	0	0	0	5286	652	23	1	3234	1	EVC2	4	5687153	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		5687153	185467123	121	3670										
DCAF16	54876	broad.mit.edu	37	chr4	17805633	17805633	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctcaagaggcgataagttGggcaccatagagtcctcttc	10	11	2	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.chr4:17805633G>T	ENST00000382247.1	-	3	1192	c.132C>A	c.(130-132)ccC>ccA	p.P44P	DCAF16_ENST00000536863.1_Silent_p.P44P|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	44					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCGATAAGTTGGGCACCATAG	0.408																																						ENST00000382247.1																			0				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(130-132)ccC>ccA		DDB1 and CUL4 associated factor 16							78	84	82					4																	17805633		2203	4300	6503	SO:0001819	synonymous_variant	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805633G>T	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.132C>A	4.37:g.17805633G>T			Somatic				DCAF16_ENST00000536863.1_Silent_p.P44P	p.P44P	NM_017741.3	NP_060211.3	WXS	Illumina GAIIx	Phase_I	Q9NXF7	DCA16_HUMAN			3	1192	-			44					B3KPB7	Silent	SNP	ENST00000382247.1	37	c.132C>A	CCDS3423.1																																																																																				0.408	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		5	104	5	104	---	---	---	---	T	17805633	G	T	17805633	2	4	73	1	0	0	0	0	0	0	0	1	4268	1335	47	1		1	DCAF16	4	17805633	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	12118480	17805633	173348643	122	3671										
CCKAR	886	broad.mit.edu	37	chr4	26491107	26491107	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcaccgctggctgccactCtgcagagagaaacaggagca	12	13	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.chr4:26491107C>A	ENST00000295589.3	-	2	307		c.e2-1			NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor						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)	GGCTGCCACTCTGCAGAGAGA	0.547																																						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.e2-1		cholecystokinin A receptor	Ceruletide(DB00403)						53	59	57					4																	26491107		2203	4300	6503	SO:0001630	splice_region_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.chr4:26491107C>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.113-1G>T	4.37:g.26491107C>A			Somatic						NM_000730.2	NP_000721.1	WXS	Illumina GAIIx	Phase_I	P32238	CCKAR_HUMAN			2	307	-		Breast(46;0.0503)						B2R9Z5	Splice_Site	SNP	ENST00000295589.3	37		CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362353	0.61403	.	.	ENSG00000163394	ENST00000295589	.	.	.	5.24	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2101	0.65759	0.0:0.9268:0.0:0.0732	.	.	.	.	.	-1	.	.	.	-	.	.	CCKAR	26100205	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.572000	0.67411	2.445000	0.82738	0.561000	0.74099	.		0.547	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		Intron	5	75	5	75	---	---	---	---	A	26491107	C	A	26491107	5	1	73	1	0	0	0	0	0	0	1	0	2880	927	32	3	1190	3	CCKAR	4	26491107	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8685474	26491107	164663169	123	3672										
KDR	3791	broad.mit.edu	37	chr4	55974046	55974046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagattagagatttctcacCaatctggggtgggactgaag	13	6	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.chr4:55974046C>A	ENST00000263923.4	-	10	1565	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	424	Ig-like C2-type 5.				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)	GATTTCTCACCAATCTGGGGT	0.453			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.(1270-1272)Ggt>Tgt		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						156	137	144					4																	55974046		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.chr4:55974046C>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.1270G>T	4.37:g.55974046C>A	ENSP00000263923:p.Gly424Cys	TSP Lung(20;0.16)	Somatic					p.G424C	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		10	1565	-	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)		424			Ig-like C2-type 5.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1270G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136771	0.21123	.	.	ENSG00000128052	ENST00000263923	T	0.76448	-1.02	4.89	4.05	0.47172	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360500	0.32655	N	0.005805	T	0.68109	0.2965	L	0.35723	1.085	0.38847	D	0.956199	P;B	0.38078	0.617;0.044	B;B	0.40477	0.33;0.055	T	0.67538	-0.5645	10	0.38643	T	0.18	.	8.15	0.31134	0.1565:0.7638:0.0:0.0797	.	424;424	P35968-2;P35968	.;VGFR2_HUMAN	C	424	ENSP00000263923:G424C	ENSP00000263923:G424C	G	-	1	0	KDR	55668803	0.226000	0.23696	0.998000	0.56505	0.598000	0.36846	2.259000	0.43259	1.289000	0.44618	0.462000	0.41574	GGT		0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	88	5	88	---	---	---	---	A	55974046	C	A	55974046	3	1	73	1	0	0	0	0	1	0	0	0	8139	594	21	1	2884	1	KDR	4	55974046	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	29482939	55974046	135180230	124	3673										
REST	5978	broad.mit.edu	37	chr4	57797468	57797468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaatttccaaaaagcctcCtctccgaaaagataaaaagg	6	11	1	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.chr4:57797468C>A	ENST00000309042.7	+	4	2758	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	815	Pro-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)					AAAAAGCCTCCTCTCCGAAAA	0.507																																						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.(2443-2445)cCt>cAt		RE1-silencing transcription factor							100	110	107					4																	57797468		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.chr4:57797468C>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.2444C>A	4.37:g.57797468C>A	ENSP00000311816:p.Pro815His		Somatic					p.P815H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	WXS	Illumina GAIIx	Phase_I	Q13127	REST_HUMAN			4	2758	+	Glioma(25;0.08)|all_neural(26;0.181)		815			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2444C>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296826	0.60086	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.11169	2.8	5.38	5.38	0.77491	.	0.586706	0.14340	N	0.325762	T	0.28200	0.0696	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.74348	0.983;0.879	T	0.03662	-1.1015	10	0.87932	D	0	-4.7997	14.5121	0.67794	0.0:1.0:0.0:0.0	.	792;815	F8WAN5;Q13127	.;REST_HUMAN	H	815;792	ENSP00000311816:P815H	ENSP00000311816:P815H	P	+	2	0	REST	57492225	0.141000	0.22595	0.038000	0.18304	0.002000	0.02628	2.816000	0.48026	2.793000	0.96121	0.655000	0.94253	CCT		0.507	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		7	199	7	199	---	---	---	---	A	57797468	C	A	57797468	3	1	73	1	0	0	0	0	1	0	0	0	13234	681	24	1	2454	1	REST	4	57797468	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1823422	57797468	133356808	125	3674										
PROL1	58503	broad.mit.edu	37	chr4	71275452	71275452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttcttgctatttaccttcCtatctctaaccctgagcccc	3	15	2	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.chr4:71275452C>A	ENST00000399575.2	+	3	581	c.407C>A	c.(406-408)cCt>cAt	p.P136H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATTTACCTTCCTATCTCTAAC	0.438																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(406-408)cCt>cAt		proline rich, lacrimal 1							185	193	190					4																	71275452		1887	4116	6003	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275452C>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.407C>A	4.37:g.71275452C>A	ENSP00000382485:p.Pro136His		Somatic				PROL1_ENST00000514338.1_3'UTR	p.P136H	NM_021225.4	NP_067048.4	WXS	Illumina GAIIx	Phase_I	Q99935	PROL1_HUMAN			3	581	+		all_hematologic(202;0.196)	136			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.407C>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	5.225	0.227046	0.09916	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.83	-3.07	0.05363	.	1.040800	0.07695	N	0.939368	T	0.26593	0.0650	L	0.36672	1.1	0.09310	N	1	B	0.26041	0.14	B	0.17979	0.02	T	0.23404	-1.0189	9	0.87932	D	0	.	2.2951	0.04148	0.4071:0.2821:0.0:0.3109	.	136	Q99935	PROL1_HUMAN	H	136	.	ENSP00000382485:P136H	P	+	2	0	PROL1	71310041	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.892000	0.04131	-0.999000	0.03442	0.491000	0.48974	CCT		0.438	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		7	110	7	110	---	---	---	---	A	71275452	C	A	71275452	3	1	73	1	0	0	0	0	1	0	0	0	12554	681	24	1	413	1	PROL1	4	71275452	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13477984	71275452	119878824	126	3675										
ADAMTS3	9508	broad.mit.edu	37	chr4	73169752	73169752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgcgacttggcttcctccCctttgccatttaaaatataa	5	13	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.chr4:73169752C>A	ENST00000286657.4	-	17	2342	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	769	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)			GGCTTCCTCCCCTTTGCCATT	0.388																																					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.(2305-2307)gGg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							179	181	181					4																	73169752		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.chr4:73169752C>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.2306G>T	4.37:g.73169752C>A	ENSP00000286657:p.Gly769Val		Somatic					p.G769V	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	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	2342	-			769			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2306G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540322	0.85917	.	.	ENSG00000156140	ENST00000286657	T	0.50001	0.76	5.57	4.72	0.59763	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.63120	-0.6708	10	0.26408	T	0.33	.	15.7903	0.78350	0.1373:0.8627:0.0:0.0	.	769	O15072	ATS3_HUMAN	V	769	ENSP00000286657:G769V	ENSP00000286657:G769V	G	-	2	0	ADAMTS3	73388616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.730000	0.84881	1.324000	0.45282	0.655000	0.94253	GGG		0.388	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			8	235	8	235	---	---	---	---	A	73169752	C	A	73169752	3	1	73	1	0	0	0	0	1	0	0	0	267	623	22	1	1335	1	ADAMTS3	4	73169752	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1894300	73169752	117984524	127	3676										
AGPAT9	84803	broad.mit.edu	37	chr4	84502812	84502812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgttttatttctccaagaaGggattggaagccattgtaga	11	5	1	2	rs368798800		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.chr4:84502812G>T	ENST00000395226.2	+	4	524	c.306G>T	c.(304-306)aaG>aaT	p.K102N	AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	102					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|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)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCTCCAAGAAGGGATTGGAAG	0.443																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(304-306)aaG>aaT		1-acylglycerol-3-phosphate O-acyltransferase 9		G	ASN/LYS	0,4406		0,0,2203	183	181	181		306	5.7	1	4		181	1,8599	1.2+/-3.3	0,1,4299	no	missense	AGPAT9	NM_032717.3	94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	102/435	84502812	1,13005	2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84502812G>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.306G>T	4.37:g.84502812G>T	ENSP00000378651:p.Lys102Asn		Somatic				AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	p.K102N	NM_001256421.1	NP_001243350.1	WXS	Illumina GAIIx	Phase_I	Q53EU6	GPAT3_HUMAN			4	524	+		Hepatocellular(203;0.114)	102					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.306G>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039605	0.55003	0.0	1.16E-4	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	5.66	5.66	0.87406	.	0.146954	0.64402	D	0.000010	T	0.54208	0.1844	M	0.73598	2.24	0.52501	D	0.999954	D	0.63880	0.993	P	0.53954	0.738	T	0.51180	-0.8738	10	0.28530	T	0.3	-13.9597	12.6348	0.56677	0.1181:0.0:0.8819:0.0	.	102	Q53EU6	GPAT3_HUMAN	N	102	ENSP00000378651:K102N;ENSP00000264409:K102N	ENSP00000264409:K102N	K	+	3	2	AGPAT9	84721836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.890000	0.39728	2.693000	0.91896	0.644000	0.83932	AAG		0.443	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		6	152	6	152	---	---	---	---	T	84502812	G	T	84502812	3	4	73	1	0	0	0	0	1	0	0	0	392	991	35	1	316	1	AGPAT9	4	84502812	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11333060	84502812	106651464	128	3677										
WDFY3	23001	broad.mit.edu	37	chr4	85605227	85605227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacactcacgatagggttccCattgatgctccacacatgga	9	12	1	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.chr4:85605227C>A	ENST00000295888.4	-	63	10002	c.9595G>T	c.(9595-9597)Ggg>Tgg	p.G3199W	WDFY3_ENST00000322366.6_Missense_Mutation_p.G3182W	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3199	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)		ATAGGGTTCCCATTGATGCTC	0.502																																						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.(9544-9546)Ggg>Tgg		WD repeat and FYVE domain containing 3							118	100	106					4																	85605227		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85605227C>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.9595G>T	4.37:g.85605227C>A	ENSP00000295888:p.Gly3199Trp		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.G3199W	p.G3182W			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	62	9951	-		Hepatocellular(203;0.114)	3199					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9544G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777676	0.90195	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.37411	1.2;1.2	5.86	5.86	0.93980	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	0.68007	0.2954	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.72204	-0.4361	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	3199	Q8IZQ1	WDFY3_HUMAN	W	3182;3199	ENSP00000318466:G3182W;ENSP00000295888:G3199W	ENSP00000295888:G3199W	G	-	1	0	WDFY3	85824251	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	7.487000	0.81328	2.781000	0.95711	0.650000	0.86243	GGG		0.502	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	83	5	83	---	---	---	---	A	85605227	C	A	85605227	3	1	73	1	0	0	0	0	1	0	0	0	17267	594	21	1	1009	1	WDFY3	4	85605227	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1102415	85605227	105549049	129	3678										
AFF1	4299	broad.mit.edu	37	chr4	88055651	88055651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacaccatcccctctttccCcaatgccttctcctgccagc	4	21	2	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.chr4:88055651C>A	ENST00000307808.6	+	19	3736	c.3316C>A	c.(3316-3318)Cca>Aca	p.P1106T	AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1106					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)		CCCTCTTTCCCCAATGCCTTC	0.567																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(3316-3318)Cca>Aca		AF4/FMR2 family, member 1							295	307	303					4																	88055651		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88055651C>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.3316C>A	4.37:g.88055651C>A	ENSP00000305689:p.Pro1106Thr		Somatic				AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	p.P1106T	NM_005935.2	NP_005926.1	WXS	Illumina GAIIx	Phase_I	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	19	3736	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1106					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3316C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081688	0.76528	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.69926	-0.44;-0.44;-0.44	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	D	0.84110	0.5400	M	0.84082	2.675	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	0.85611	0.1258	10	0.72032	D	0.01	-15.4938	19.3861	0.94556	0.0:1.0:0.0:0.0	.	1114;1107;1106	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	T	1114;1106;745	ENSP00000378578:P1114T;ENSP00000305689:P1106T;ENSP00000440843:P745T	ENSP00000305689:P1106T	P	+	1	0	AFF1	88274675	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.238000	0.78173	2.677000	0.91161	0.491000	0.48974	CCA		0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	424	9	424	---	---	---	---	A	88055651	C	A	88055651	3	1	73	1	0	0	0	0	1	0	0	0	356	623	22	1	3435	1	AFF1	4	88055651	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2450424	88055651	103098625	130	3679										
NFKB1	4790	broad.mit.edu	37	chr4	103528375	103528375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgctgctggtggccgctGgggctgacgtcaatgctcag	16	11	2	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.chr4:103528375G>T	ENST00000505458.1	+	18	2297	c.2020G>T	c.(2020-2022)Ggg>Tgg	p.G674W	NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000226574.4_Missense_Mutation_p.G675W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	674	Essential for interaction with HIF1AN.|Interaction with CFLAR.				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)	GGTGGCCGCTGGGGCTGACGT	0.572																																						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.(2023-2025)Ggg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						94	93	94					4																	103528375		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.chr4:103528375G>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.2020G>T	4.37:g.103528375G>T	ENSP00000424790:p.Gly674Trp		Somatic				NFKB1_ENST00000505458.1_Missense_Mutation_p.G674W|NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W	p.G675W	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	WXS	Illumina GAIIx	Phase_I	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	18	2490	+		Hepatocellular(203;0.217)	674			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2023G>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094907	0.56075	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.73258	-0.73;-0.73;-0.73	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.065895	0.64402	D	0.000010	D	0.89065	0.6609	H	0.97918	4.105	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91872	0.5508	10	0.87932	D	0	.	11.545	0.50688	0.0826:0.0:0.9174:0.0	.	494;674;675	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	W	675;674;674	ENSP00000226574:G675W;ENSP00000378297:G674W;ENSP00000424790:G674W	ENSP00000226574:G675W	G	+	1	0	NFKB1	103747413	1.000000	0.71417	0.066000	0.19879	0.420000	0.31355	4.388000	0.59633	2.308000	0.77769	0.655000	0.94253	GGG		0.572	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	111	6	111	---	---	---	---	T	103528375	G	T	103528375	3	4	73	1	0	0	0	0	1	0	0	0	10375	1348	47	1	2089	1	NFKB1	4	103528375	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	15472724	103528375	87625901	131	3680										
FAT4	79633	broad.mit.edu	37	chr4	126372476	126372476	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgactcagactccatcccCagctggagcaggttttctta	8	12	2	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.chr4:126372476C>A	ENST00000394329.3	+	9	10318	c.10305C>A	c.(10303-10305)ccC>ccA	p.P3435P	FAT4_ENST00000335110.5_Silent_p.P1733P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3435	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						ACTCCATCCCCAGCTGGAGCA	0.453																																						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.(10303-10305)ccC>ccA		FAT atypical cadherin 4							115	116	116					4																	126372476		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372476C>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.10305C>A	4.37:g.126372476C>A			Somatic				FAT4_ENST00000335110.5_Silent_p.P1733P	p.P3435P	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	10318	+			3435			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10305C>A	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	144	7	144	---	---	---	---	A	126372476	C	A	126372476	2	1	73	1	0	0	0	0	0	0	0	1	5692	581	21	1		1	FAT4	4	126372476	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	22844101	126372476	64781800	132	3681										
MAML3	55534	broad.mit.edu	37	chr4	140641195	140641195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccagaggcaggttgcctcGgtccctgggcttggttatgt	15	11	0	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.chr4:140641195G>T	ENST00000509479.2	-	5	3555	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	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)					AGGTTGCCTCGGTCCCTGGGC	0.522																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2698-2700)cCg>cAg		mastermind-like 3 (Drosophila)							228	235	233					4																	140641195		2061	4211	6272	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.chr4:140641195G>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.2699C>A	4.37:g.140641195G>T	ENSP00000421180:p.Pro900Gln		Somatic				MGST2_ENST00000515137.1_Intron	p.P900Q	NM_018717.4	NP_061187	WXS	Illumina GAIIx	Phase_I	Q96JK9	MAML3_HUMAN			5	3555	-	all_hematologic(180;0.162)		896			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2699C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709537	0.48517	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.23950	1.88	5.81	5.81	0.92471	.	0.066162	0.64402	D	0.000016	T	0.33644	0.0870	L	0.41710	1.295	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.52217	0.693;0.62	T	0.01249	-1.1406	10	0.13853	T	0.58	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	900;896	E7EVW8;Q96JK9	.;MAML3_HUMAN	Q	900;207	ENSP00000421180:P900Q	ENSP00000421180:P900Q	P	-	2	0	MAML3	140860645	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	4.376000	0.59556	2.738000	0.93877	0.655000	0.94253	CCG		0.522	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	414	7	414	---	---	---	---	T	140641195	G	T	140641195	3	4	73	1	0	0	0	0	1	0	0	0	9207	1116	39	1	721	1	MAML3	4	140641195	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	14268719	140641195	50513081	133	3682										
LRBA	987	broad.mit.edu	37	chr4	151356741	151356741	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaacaaaacatttctgtacCttaatatcagaggtatcacg	5	8	3	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.chr4:151356741C>A	ENST00000357115.3	-	47	7317	c.7074G>T	c.(7072-7074)aaG>aaT	p.K2358N	LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000535741.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2358	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					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)					ATTTCTGTACCTTAATATCAG	0.358																																						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.(7039-7041)aaG>aaT		LPS-responsive vesicle trafficking, beach and anchor containing							98	106	103					4																	151356741		2203	4300	6503	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151356741C>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.7074+1G>T	4.37:g.151356741C>A			Somatic				LRBA_ENST00000357115.3_Splice_Site_p.K2358N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N	p.K2347N			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			46	7514	-	all_hematologic(180;0.151)		2358			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	ENST00000357115.3	37	c.7041G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.095822|5.095822	0.94197|0.94197	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.81415|.	-1.49;-1.49;-1.49;-1.49|.	5.2|5.2	5.2|5.2	0.72013|0.72013	BEACH domain (4);|.	0.169480|.	0.49916|.	D|.	0.000124|.	D|D	0.86602|0.86602	0.5972|0.5972	M|M	0.92880|0.92880	3.355|3.355	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;0.987|.	D|D	0.89725|0.89725	0.3922|0.3922	9|5	.|.	.|.	.|.	.|.	19.0835|19.0835	0.93192|0.93192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2358;2347;248|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	N|M	2347;2347;2358;2347|1000	ENSP00000446299:K2347N;ENSP00000421552:K2347N;ENSP00000349629:K2358N;ENSP00000422180:K2347N|.	.|.	K|R	-|-	3|2	2|0	LRBA|LRBA	151576191|151576191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.701000|7.701000	0.84566|0.84566	2.574000|2.574000	0.86865|0.86865	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Missense_Mutation	7	139	7	139	---	---	---	---	A	151356741	C	A	151356741	5	1	73	1	0	0	0	0	0	0	1	0	8931	695	24	1	1565	1	LRBA	4	151356741	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10715546	151356741	39797535	134	3683										
ODZ3	55714	broad.mit.edu	37	chr4	183522255	183522255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgagctgcaaaccacaccCgagtccgtccagctgcagga	11	16	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.chr4:183522255C>A	ENST00000511685.1	+	4	813	c.690C>A	c.(688-690)ccC>ccA	p.P230P	TENM3_ENST00000406950.2_Silent_p.P230P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	230	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										AAACCACACCCGAGTCCGTCC	0.527																																						ENST00000511685.1																			0											c.(688-690)ccC>ccA		teneurin transmembrane protein 3							75	83	80					4																	183522255		1888	4105	5993	SO:0001819	synonymous_variant	55714							g.chr4:183522255C>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.690C>A	4.37:g.183522255C>A			Somatic				TENM3_ENST00000406950.2_Silent_p.P230P	p.P230P			WXS	Illumina GAIIx	Phase_I					4	813	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.690C>A	CCDS47165.1																																																																																				0.527	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	146	5	146	---	---	---	---	A	183522255	C	A	183522255	2	1	73	1	0	0	0	0	0	0	0	1	10836	639	23	1		1	ODZ3	4	183522255	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	32165514	183522255	7632021	135	3684										
C5orf55	116349	broad.mit.edu	37	chr5	442821	442821	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttgattcccaaccttctcCgctttggtttcttcgtttac	6	12	2	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.chr5:442821C>A	ENST00000408966.2	-	1	437	c.117G>T	c.(115-117)gcG>gcT	p.A39A	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	39						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CAACCTTCTCCGCTTTGGTTT	0.602																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(115-117)gcG>gcT		chromosome 5 open reading frame 55							139	154	149					5																	442821		1968	4150	6118	SO:0001819	synonymous_variant	116349					extracellular region		g.chr5:442821C>A	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.117G>T	5.37:g.442821C>A			Somatic					p.A39A	NM_138464.2	NP_612473.1	WXS	Illumina GAIIx	Phase_I	Q8N2X6	CE055_HUMAN			1	437	-			39					Q96CR9	Silent	SNP	ENST00000408966.2	37	c.117G>T	CCDS43298.1																																																																																				0.602	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		7	246	7	246	---	---	---	---	A	442821	C	A	442821	2	1	73	1	0	0	0	0	0	0	0	1	2311	639	23	1		1	C5orf55	5	442821	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		442821	180472439	136	3685										
IRX4	50805	broad.mit.edu	37	chr5	1879725	1879725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtctgcgcacttgttccgcGgcggccacgtcatcttgttc	11	15	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.chr5:1879725G>T	ENST00000505790.1	-	5	1085	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	210					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)		CTTGTTCCGCGGCGGCCACGT	0.662																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(628-630)cCg>cAg		iroquois homeobox 4							58	53	55					5																	1879725		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879725G>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.629C>A	5.37:g.1879725G>T	ENSP00000423161:p.Pro210Gln		Somatic				IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q|IRX4_ENST00000505938.1_5'UTR	p.P210Q	NM_001278634.1	NP_001265563.1	WXS	Illumina GAIIx	Phase_I	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1085	-			210					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.629C>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445931	0.63178	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.83837	-1.77;-1.77;-1.77	4.17	4.17	0.49024	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89996	0.4111	10	0.62326	D	0.03	-23.7931	15.4132	0.74943	0.0:0.0:1.0:0.0	.	210	P78413	IRX4_HUMAN	Q	210	ENSP00000231357:P210Q;ENSP00000423161:P210Q;ENSP00000424235:P210Q	ENSP00000231357:P210Q	P	-	2	0	IRX4	1932725	1.000000	0.71417	0.503000	0.27626	0.758000	0.43043	9.259000	0.95561	2.156000	0.67533	0.462000	0.41574	CCG		0.662	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		4	55	4	55	---	---	---	---	T	1879725	G	T	1879725	3	4	73	1	0	0	0	0	1	0	0	0	7846	1116	39	1	938	1	IRX4	5	1879725	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1436904	1879725	179035535	137	3686										
CDH12	1010	broad.mit.edu	37	chr5	21751918	21751918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagactttaaagcggggtccCcagtctgtcagatagtcata	10	9	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.chr5:21751918C>A	ENST00000382254.1	-	15	3399	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	771					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						AGCGGGGTCCCCAGTCTGTCA	0.502										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.(2311-2313)tgG>tgT		cadherin 12, type 2 (N-cadherin 2)							101	98	99					5																	21751918		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.chr5:21751918C>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.2313G>T	5.37:g.21751918C>A	ENSP00000371689:p.Trp771Cys	HNSCC(59;0.17)	Somatic				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|RP11-804N13.1_ENST00000522350.1_RNA	p.W771C	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			15	3399	-			771					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2313G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642013	0.67244	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.83506	-1.73;-1.73;-1.73	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95184	0.8302	10	0.87932	D	0	.	18.6788	0.91539	0.0:1.0:0.0:0.0	.	731;771	B7Z2U6;P55289	.;CAD12_HUMAN	C	771;771;731	ENSP00000423577:W771C;ENSP00000371689:W771C;ENSP00000428786:W731C	ENSP00000371689:W771C	W	-	3	0	CDH12	21787675	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.413000	0.81919	0.467000	0.42956	TGG		0.502	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	117	6	117	---	---	---	---	A	21751918	C	A	21751918	3	1	73	1	0	0	0	0	1	0	0	0	3098	624	22	1	75	1	CDH12	5	21751918	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	19872193	21751918	159163342	138	3687										
CDH12	1010	broad.mit.edu	37	chr5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacagaacccagagaagcaGggataaacagttccttgtaa	9	8	0	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.chr5:22078761G>T	ENST00000382254.1	-	5	1111	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_ENST00000504376.2_Missense_Mutation_p.L9M|CDH12_ENST00000522262.1_Missense_Mutation_p.L9M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	9					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.L9M(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						CAGAGAAGCAGGGATAAACAG	0.438										HNSCC(59;0.17)																												ENST00000382254.1																			1	Substitution - Missense(1)	p.L9M(1)	lung(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.(25-27)Ctg>Atg		cadherin 12, type 2 (N-cadherin 2)							139	143	142					5																	22078761		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.chr5:22078761G>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.25C>A	5.37:g.22078761G>T	ENSP00000371689:p.Leu9Met	HNSCC(59;0.17)	Somatic				CDH12_ENST00000522262.1_Missense_Mutation_p.L9M|CDH12_ENST00000504376.2_Missense_Mutation_p.L9M	p.L9M	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			5	1111	-			9					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.25C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261287	0.80246	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62364	0.24;0.24;0.03	5.67	5.67	0.87782	.	0.403570	0.25305	N	0.031628	T	0.61615	0.2361	N	0.08118	0	0.47547	D	0.999452	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.68044	-0.5513	10	0.66056	D	0.02	.	13.0309	0.58840	0.0733:0.0:0.9267:0.0	.	9;9	B7Z2U6;P55289	.;CAD12_HUMAN	M	9	ENSP00000423577:L9M;ENSP00000371689:L9M;ENSP00000428786:L9M	ENSP00000371689:L9M	L	-	1	2	CDH12	22114518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.426000	0.80270	2.694000	0.91930	0.555000	0.69702	CTG		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		7	176	7	176	---	---	---	---	T	22078761	G	T	22078761	3	4	73	1	0	0	0	0	1	0	0	0	3098	991	35	1	2403	1	CDH12	5	22078761	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	326843	22078761	158836499	139	3688										
PDZD2	23037	broad.mit.edu	37	chr5	32087269	32087269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcagacctcatctcttccCcagggaagaagggggccgct	11	15	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.chr5:32087269C>A	ENST00000438447.1	+	20	4103	c.3715C>A	c.(3715-3717)Cca>Aca	p.P1239T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1239					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						CATCTCTTCCCCAGGGAAGAA	0.552																																						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.(3715-3717)Cca>Aca		PDZ domain containing 2							77	85	82					5																	32087269		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087269C>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.3715C>A	5.37:g.32087269C>A	ENSP00000402033:p.Pro1239Thr		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T	p.P1239T			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	4103	+			1239					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3715C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361740	0.41801	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06687	3.27;3.27	3.89	3.02	0.34903	.	1.230650	0.06131	N	0.670723	T	0.13286	0.0322	L	0.50333	1.59	0.09310	N	1	D	0.58268	0.982	P	0.50314	0.637	T	0.19647	-1.0299	10	0.17832	T	0.49	.	7.506	0.27545	0.0:0.8845:0.0:0.1155	.	1239	O15018	PDZD2_HUMAN	T	1239;1040;1239	ENSP00000402033:P1239T;ENSP00000282493:P1239T	ENSP00000282493:P1239T	P	+	1	0	PDZD2	32123026	0.001000	0.12720	0.023000	0.16930	0.002000	0.02628	0.764000	0.26532	1.220000	0.43490	-0.136000	0.14681	CCA		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	122	6	122	---	---	---	---	A	32087269	C	A	32087269	3	1	73	1	0	0	0	0	1	0	0	0	11701	623	22	1	3789	1	PDZD2	5	32087269	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10008508	32087269	148827991	140	3689										
RAI14	26064	broad.mit.edu	37	chr5	34823167	34823167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctggtgaaacctctccccCagactccaaatcatctccat	4	17	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.chr5:34823167C>A	ENST00000265109.3	+	15	1507	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	407						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)					ACCTCTCCCCCAGACTCCAAA	0.458																																						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.(1219-1221)cCa>cAa		retinoic acid induced 14							85	87	86					5																	34823167		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823167C>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.1220C>A	5.37:g.34823167C>A	ENSP00000265109:p.Pro407Gln		Somatic				RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q	p.P407Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			15	1507	+	all_lung(31;0.000191)		407					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1220C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	0.336	-0.953403	0.02285	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35421	1.37;1.31;1.37;1.37;1.37;1.41;1.4	4.91	4.05	0.47172	.	.	.	.	.	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.001	T	0.14868	-1.0457	9	0.26408	T	0.33	-0.4072	5.532	0.16990	0.1999:0.6299:0.0:0.1703	.	399;378;410;407	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	407;378;407;407;410;399;400	ENSP00000265109:P407Q;ENSP00000422377:P378Q;ENSP00000388725:P407Q;ENSP00000422942:P407Q;ENSP00000427123:P410Q;ENSP00000423854:P399Q;ENSP00000380591:P400Q	ENSP00000265109:P407Q	P	+	2	0	RAI14	34858924	0.973000	0.33851	0.239000	0.24122	0.955000	0.61496	2.327000	0.43858	1.405000	0.46838	0.555000	0.69702	CCA		0.458	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		5	78	5	78	---	---	---	---	A	34823167	C	A	34823167	3	1	73	1	0	0	0	0	1	0	0	0	13008	594	21	1	1339	1	RAI14	5	34823167	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2735898	34823167	146092093	141	3690										
NSA2	10412	broad.mit.edu	37	chr5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacagaagtattaaaagttAttcgaacaggaaagagaaag	9	3	0	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.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		Somatic				NSA2_ENST00000513356.1_3'UTR	p.I136L	NM_014886.3	NP_055701.1	WXS	Illumina GAIIx	Phase_I	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	22	59	---	---	---	---	C	74066519	A	C	74066519	3	2	73	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	39243352	74066519	106848741	142	3691										
RASGRF2	5924	broad.mit.edu	37	chr5	80408628	80408628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactgccgctgtggtgctgGggaaactctccgacatatac	11	12	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.chr5:80408628G>T	ENST00000265080.4	+	14	2105	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	680	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)		TGTGGTGCTGGGGAAACTCTC	0.488																																						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.(2038-2040)Ggg>Tgg		Ras protein-specific guanine nucleotide-releasing factor 2							139	133	135					5																	80408628		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.chr5:80408628G>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.2038G>T	5.37:g.80408628G>T	ENSP00000265080:p.Gly680Trp		Somatic					p.G680W	NM_006909.2	NP_008840.1	WXS	Illumina GAIIx	Phase_I	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	2105	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	680			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2038G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225105	0.58668	.	.	ENSG00000113319	ENST00000265080	T	0.32023	1.47	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.367187	0.32868	N	0.005554	T	0.20007	0.0481	N	0.03608	-0.345	0.40732	D	0.98275	B	0.21520	0.057	B	0.24974	0.057	T	0.16217	-1.0410	10	0.87932	D	0	.	19.6839	0.95973	0.0:0.0:1.0:0.0	.	680	O14827	RGRF2_HUMAN	W	680	ENSP00000265080:G680W	ENSP00000265080:G680W	G	+	1	0	RASGRF2	80444384	1.000000	0.71417	0.973000	0.42090	0.681000	0.39784	7.945000	0.87732	2.752000	0.94435	0.558000	0.71614	GGG		0.488	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	132	7	132	---	---	---	---	T	80408628	G	T	80408628	3	4	73	1	0	0	0	0	1	0	0	0	13073	1232	43	1	2092	1	RASGRF2	5	80408628	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	6342109	80408628	100506632	143	3692										
GPR98	84059	broad.mit.edu	37	chr5	90024597	90024597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgttcttagccatttccCaggctaatgccaggctaaac	8	12	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.chr5:90024597C>A	ENST00000405460.2	+	49	10369	c.10273C>A	c.(10273-10275)Cag>Aag	p.Q3425K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3425					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)		AGCCATTTCCCAGGCTAATGC	0.498																																						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.(10273-10275)Cag>Aag		G protein-coupled receptor 98							118	114	115					5																	90024597		1961	4134	6095	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.chr5:90024597C>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.10273C>A	5.37:g.90024597C>A	ENSP00000384582:p.Gln3425Lys		Somatic					p.Q3425K	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	49	10369	+		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)	3425					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10273C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546889	0.27652	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	D	0.83075	-1.68	5.47	5.47	0.80525	.	0.405916	0.27526	N	0.018978	T	0.76652	0.4017	L	0.54323	1.7	0.80722	D	1	B;B	0.24651	0.108;0.086	B;B	0.27076	0.076;0.056	T	0.68296	-0.5446	10	0.02654	T	1	.	13.0768	0.59091	0.0:0.9164:0.0:0.0836	.	3425;3425	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	3425	ENSP00000384582:Q3425K	ENSP00000296619:Q3425K	Q	+	1	0	GPR98	90060353	0.898000	0.30612	0.982000	0.44146	0.814000	0.46013	3.707000	0.54838	2.571000	0.86741	0.563000	0.77884	CAG		0.498	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	116	5	116	---	---	---	---	A	90024597	C	A	90024597	3	1	73	1	0	0	0	0	1	0	0	0	6721	595	21	1	10467	1	GPR98	5	90024597	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9615969	90024597	90890663	144	3693										
MAN2A1	4124	broad.mit.edu	37	chr5	109159447	109159447	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgtttacacaacaccgccCtttgtcagagtgacacatgg	8	11	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.chr5:109159447C>A	ENST00000261483.4	+	16	3527	c.2475C>A	c.(2473-2475)ccC>ccA	p.P825P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	825					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)		CAACACCGCCCTTTGTCAGAG	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.(2473-2475)ccC>ccA		mannosidase, alpha, class 2A, member 1							118	110	113					5																	109159447		2202	4300	6502	SO:0001819	synonymous_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.chr5:109159447C>A		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.2475C>A	5.37:g.109159447C>A			Somatic					p.P825P	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	16	3527	+		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)	825					Q16767	Silent	SNP	ENST00000261483.4	37	c.2475C>A	CCDS34209.1																																																																																				0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			6	91	6	91	---	---	---	---	A	109159447	C	A	109159447	2	1	73	1	0	0	0	0	0	0	0	1	9214	668	24	1		1	MAN2A1	5	109159447	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	19134850	109159447	71755813	145	3694										
DCP2	167227	broad.mit.edu	37	chr5	112337354	112337354	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtagcacgccggctaaaccCactgtggaaaaattgaggta	12	9	0	1	rs373708284		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.chr5:112337354C>A	ENST00000389063.2	+	7	987	c.789C>A	c.(787-789)ccC>ccA	p.P263P	DCP2_ENST00000515408.1_Silent_p.P263P|DCP2_ENST00000543319.1_Silent_p.P52P	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	263					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)		CGGCTAAACCCACTGTGGAAA	0.383																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(787-789)ccC>ccA		decapping mRNA 2							120	130	127					5																	112337354		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.chr5:112337354C>A	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.789C>A	5.37:g.112337354C>A			Somatic				DCP2_ENST00000543319.1_Silent_p.P52P|DCP2_ENST00000515408.1_Silent_p.P263P	p.P263P	NM_152624.5	NP_689837	WXS	Illumina GAIIx	Phase_I	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)	7	987	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	263					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	37	c.789C>A	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	8.187	0.795065	0.16327	.	.	ENSG00000172795	ENST00000513585	.	.	.	5.79	1.54	0.23209	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44019	-0.9355	4	.	.	.	-7.771	6.7052	0.23246	0.1181:0.5989:0.0:0.283	.	.	.	.	N	245	.	.	H	+	1	0	DCP2	112365253	0.970000	0.33590	0.998000	0.56505	0.979000	0.70002	-0.004000	0.12878	0.375000	0.24679	0.643000	0.83706	CAC		0.383	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		6	236	6	236	---	---	---	---	A	112337354	C	A	112337354	2	1	73	1	0	0	0	0	0	0	0	1	4300	581	21	1		1	DCP2	5	112337354	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3177907	112337354	68577906	146	3695										
FBN2	2201	broad.mit.edu	37	chr5	127648420	127648420	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgacgcccaccccgatctcGgtgttgcaagacagactccc	9	17	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.chr5:127648420G>T	ENST00000508053.1	-	43	5759	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T	FBN2_ENST00000262464.4_Silent_p.T1595T			P35556	FBN2_HUMAN	fibrillin 2	1595	TB 6.				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.T1595T(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)		CCCCGATCTCGGTGTTGCAAG	0.562																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.T1595T(2)	lung(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.(4783-4785)acC>acA		fibrillin 2							230	232	231					5																	127648420		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.chr5:127648420G>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.4785C>A	5.37:g.127648420G>T			Somatic				FBN2_ENST00000262464.4_Silent_p.T1595T	p.T1595T			WXS	Illumina GAIIx	Phase_I	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)	43	5759	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1595			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4785C>A	CCDS34222.1																																																																																				0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	314	8	314	---	---	---	---	T	127648420	G	T	127648420	2	4	73	1	0	0	0	0	0	0	0	1	5703	1103	39	1		1	FBN2	5	127648420	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	15311066	127648420	53266840	147	3696										
H2AFY	9555	broad.mit.edu	37	chr5	134705107	134705107	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcacataccttggatttccGggcccctttcttgcctcctg	7	15	2	0	rs200273395		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.chr5:134705107G>T	ENST00000511689.1	-	4	1059	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000304332.4_Silent_p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	156	Lys-rich.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGATTTCCGGGCCCCTTTC	0.517																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(466-468)Cgg>Agg		H2A histone family, member Y							242	264	257					5																	134705107		2203	4300	6503	SO:0001819	synonymous_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705107G>T	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.466C>A	5.37:g.134705107G>T			Somatic				H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Silent_p.R156R	p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	WXS	Illumina GAIIx	Phase_I	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1059	-			156			Lys-rich.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.466C>A	CCDS4185.1																																																																																				0.517	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		7	396	7	396	---	---	---	---	T	134705107	G	T	134705107	2	4	73	1	0	0	0	0	0	0	0	1	6929	1115	39	1		1	H2AFY	5	134705107	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	7056687	134705107	46210153	148	3697										
BRD8	10902	broad.mit.edu	37	chr5	137495792	137495792	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtttgcgggtagaatctCtccctcgaagacttttagca	9	11	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.chr5:137495792C>A	ENST00000254900.5	-	19	2869	c.2498G>T	c.(2497-2499)aGa>aTa	p.R833I	BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000515014.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	833					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)			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)			GGTAGAATCTCTCCCTCGAAG	0.498																																						ENST00000254900.5																			0				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.(2497-2499)aGa>aTa		bromodomain containing 8							166	147	153					5																	137495792		2203	4300	6503	SO:0001583	missense	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.chr5:137495792C>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.2498G>T	5.37:g.137495792C>A	ENSP00000254900:p.Arg833Ile		Somatic				BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I	p.R833I	NM_139199.1	NP_631938	WXS	Illumina GAIIx	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		19	2869	-			833					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2498G>T	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.389046|5.389046	0.95988|0.95988	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.|T;T;T;T;T;T;T	.|0.36699	.|1.59;1.24;1.24;1.39;1.37;1.24;1.36	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.50956	.|0.1646	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.997;0.999;0.998;0.998;0.999	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.998;0.996;0.992;0.974;0.997;0.992;0.995;0.994	.|T	.|0.52533	.|-0.8563	.|10	.|0.87932	.|D	.|0	-9.4541|-9.4541	17.4533|17.4533	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|792;817;612;906;836;727;906;833	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	X|I	827|833;862;831;906;833;836;727;792	.|ENSP00000254900:R833I;ENSP00000398067:R862I;ENSP00000398873:R831I;ENSP00000230901:R906I;ENSP00000384845:R833I;ENSP00000394330:R836I;ENSP00000408396:R792I	.|ENSP00000230901:R906I	E|R	-|-	1|2	0|0	BRD8|BRD8	137523691|137523691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.477000|7.477000	0.81069|0.81069	2.704000|2.704000	0.92352|0.92352	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.498	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		7	164	7	164	---	---	---	---	A	137495792	C	A	137495792	3	1	73	1	0	0	0	0	1	0	0	0	1506	913	32	3	1309	3	BRD8	5	137495792	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2790685	137495792	43419468	149	3698										
DNAJC18	202052	broad.mit.edu	37	chr5	138755831	138755831	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcatgcagagaagctcctCtgtaggccttgtcaaagttt	10	9	3	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.chr5:138755831C>A	ENST00000302060.5	-	7	943	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	288						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)			AGAAGCTCCTCTGTAGGCCTT	0.413																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(862-864)aGa>aTa		DnaJ (Hsp40) homolog, subfamily C, member 18							132	123	126					5																	138755831		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138755831C>A	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.863G>T	5.37:g.138755831C>A	ENSP00000302843:p.Arg288Ile		Somatic					p.R288I	NM_152686.3	NP_689899.1	WXS	Illumina GAIIx	Phase_I	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	943	-			288						Missense_Mutation	SNP	ENST00000302060.5	37	c.863G>T	CCDS4214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.362448|2.362448	0.41902|0.41902	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000514052|ENST00000302060;ENST00000508445	.|T;T	.|0.44083	.|0.93;0.93	5.68|5.68	4.7|4.7	0.59300|0.59300	.|Domain of unknown function DUF1977, DnaJ-like (1);	.|0.290281	.|0.38381	.|N	.|0.001702	.|T	.|0.37019	.|0.0988	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999995|0.999995	.|P	.|0.40731	.|0.728	.|B	.|0.42959	.|0.403	.|T	.|0.09509	.|-1.0671	.|10	.|0.38643	.|T	.|0.18	-12.5242|-12.5242	8.0618|8.0618	0.30638|0.30638	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	.|288	.|Q9H819	.|DJC18_HUMAN	X|I	80|288;121	.|ENSP00000302843:R288I;ENSP00000426338:R121I	.|ENSP00000302843:R288I	E|R	-|-	1|2	0|0	DNAJC18|DNAJC18	138783730|138783730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	1.785000|1.785000	0.38684|0.38684	2.683000|2.683000	0.91414|0.91414	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.413	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		6	103	6	103	---	---	---	---	A	138755831	C	A	138755831	3	1	73	1	0	0	0	0	1	0	0	0	4637	913	32	3	221	3	DNAJC18	5	138755831	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1260039	138755831	42159429	150	3699										
PCDHB3	56132	broad.mit.edu	37	chr5	140481720	140481720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgctgccgccccaggaccCgcacctgcccctctcttccc	8	23	1	0	rs550662117		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.chr5:140481720C>A	ENST00000231130.2	+	1	1487	c.1487C>A	c.(1486-1488)cCg>cAg	p.P496Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	496	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(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)			CCCCAGGACCCGCACCTGCCC	0.647																																						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.(1486-1488)cCg>cAg									64	70	68					5																	140481720		2202	4298	6500	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481720C>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.1487C>A	5.37:g.140481720C>A	ENSP00000231130:p.Pro496Gln		Somatic				AC005754.7_ENST00000607216.1_RNA	p.P496Q	NM_018937.2	NP_061760.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1487	+			496			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1487C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.066244	0.01934	.	.	ENSG00000113205	ENST00000231130	T	0.64085	-0.08	3.92	0.408	0.16377	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38026	0.1025	N	0.11651	0.15	0.09310	N	1	B	0.32382	0.368	B	0.42653	0.394	T	0.36237	-0.9756	9	0.07990	T	0.79	.	0.4155	0.00448	0.2623:0.2861:0.2398:0.2118	.	496	Q9Y5E6	PCDB3_HUMAN	Q	496	ENSP00000231130:P496Q	ENSP00000231130:P496Q	P	+	2	0	PCDHB3	140461904	0.000000	0.05858	0.132000	0.22025	0.027000	0.11550	-0.690000	0.05138	0.243000	0.21327	-0.220000	0.12472	CCG		0.647	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		6	174	6	174	---	---	---	---	A	140481720	C	A	140481720	3	1	73	1	0	0	0	0	1	0	0	0	11543	652	23	1	1489	1	PCDHB3	5	140481720	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1725889	140481720	40433540	151	3700										
PCDHGA12	26025	broad.mit.edu	37	chr5	140812030	140812030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcctgtaccccgccctcccCacggacggttccactggcgt	9	19	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.chr5:140812030C>A	ENST00000252085.3	+	1	1846	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	568					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)			CCGCCCTCCCCACGGACGGTT	0.677																																						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.(1702-1704)ccC>ccA									118	131	127					5																	140812030		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140812030C>A	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.1704C>A	5.37:g.140812030C>A			Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.P568P	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1704C>A	CCDS4260.1																																																																																				0.677	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		8	215	8	215	---	---	---	---	A	140812030	C	A	140812030	2	1	73	1	0	0	0	0	0	0	0	1	11553	581	21	1		1	PCDHGA12	5	140812030	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	330310	140812030	40103230	152	3701										
DPYSL3	1809	broad.mit.edu	37	chr5	146798139	146798139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagggatcaccatcttccCattggcttcaatggtcttca	7	13	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.chr5:146798139C>A	ENST00000398514.3	-	3	555	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.G176W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	62					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATCTTCCCATTGGCTTCA	0.433																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(526-528)Ggg>Tgg		dihydropyrimidinase-like 3							184	184	184					5																	146798139		2058	4221	6279	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146798139C>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.184G>T	5.37:g.146798139C>A	ENSP00000381526:p.Gly62Trp		Somatic				DPYSL3_ENST00000398514.3_Missense_Mutation_p.G62W|DPYSL3_ENST00000534907.1_Intron	p.G176W	NM_001197294.1	NP_001184223.1	WXS	Illumina GAIIx	Phase_I	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	723	-			62					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.526G>T	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255211	0.95336	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.92647	-2.78;-2.85;-3.08	6.17	6.17	0.99709	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98698	1.0699	10	0.87932	D	0	-12.9413	20.8794	0.99867	0.0:1.0:0.0:0.0	.	176;62	B3SXQ8;Q14195	.;DPYL3_HUMAN	W	62;176;62	ENSP00000381526:G62W;ENSP00000343690:G176W;ENSP00000426720:G62W	ENSP00000343690:G176W	G	-	1	0	DPYSL3	146778332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGG		0.433	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		7	228	7	228	---	---	---	---	A	146798139	C	A	146798139	3	1	73	1	0	0	0	0	1	0	0	0	4748	594	21	1	1576	1	DPYSL3	5	146798139	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5986109	146798139	34117121	153	3702										
HAVCR2	84868	broad.mit.edu	37	chr5	156514274	156514274	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctactgcatttgccaatcCtgagggagggaggttggcca	14	9	0	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.chr5:156514274C>A	ENST00000307851.4	-	7	1475	c.745G>T	c.(745-747)Gga>Tga	p.G249*	HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	249						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)			TTTGCCAATCCTGAGGGAGGG	0.433																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(745-747)Gga>Tga		hepatitis A virus cellular receptor 2							80	77	78					5																	156514274		2203	4300	6503	SO:0001587	stop_gained	84868					integral to membrane		g.chr5:156514274C>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.745G>T	5.37:g.156514274C>A	ENSP00000312002:p.Gly249*		Somatic				HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	p.G249*	NM_032782.4	NP_116171.3	WXS	Illumina GAIIx	Phase_I	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1475	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	249					B2RAY2|Q8WW60|Q96K94	Nonsense_Mutation	SNP	ENST00000307851.4	37	c.745G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.846974	0.98522	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	.	.	.	4.8	4.8	0.61643	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0671	13.5678	0.61828	0.0:1.0:0.0:0.0	.	.	.	.	X	249;221	.	ENSP00000312002:G249X	G	-	1	0	HAVCR2	156446852	0.056000	0.20664	0.207000	0.23584	0.013000	0.08279	2.825000	0.48096	2.677000	0.91161	0.561000	0.74099	GGA		0.433	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	74	5	74	---	---	---	---	A	156514274	C	A	156514274	4	1	73	1	0	0	0	0	0	1	0	0	6974	690	24	1	164	1	HAVCR2	5	156514274	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9716135	156514274	24400986	154	3703										
ITK	3702	broad.mit.edu	37	chr5	156638318	156638318	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggtgcatgacaactacctCctatatgtgtttgctccaga	9	10	0	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.chr5:156638318C>A	ENST00000422843.3	+	3	416	c.264C>A	c.(262-264)ctC>ctA	p.L88L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	88	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	ACAACTACCTCCTATATGTGT	0.507			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.(262-264)ctC>ctA		IL2-inducible T-cell kinase							133	117	123					5																	156638318		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:156638318C>A	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.264C>A	5.37:g.156638318C>A			Somatic				CTB-4E7.1_ENST00000519375.1_RNA	p.L88L	NM_005546.3	NP_005537.3	WXS	Illumina GAIIx	Phase_I	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	416	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	88			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.264C>A	CCDS4336.1																																																																																				0.507	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			7	148	7	148	---	---	---	---	A	156638318	C	A	156638318	2	1	73	1	0	0	0	0	0	0	0	1	7909	842	30	3		3	ITK	5	156638318	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	124044	156638318	24276942	155	3704										
BTNL3	10917	broad.mit.edu	37	chr5	180432842	180432842	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgaggaaaaggggactccCatattcatatgtccagtgtc	11	9	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.chr5:180432842C>A	ENST00000342868.6	+	8	1555	c.1371C>A	c.(1369-1371)ccC>ccA	p.P457P	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	457	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)			AGGGGACTCCCATATTCATAT	0.512																																						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.(1369-1371)ccC>ccA		butyrophilin-like 3							55	51	52					5																	180432842		1961	4157	6118	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180432842C>A	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.1371C>A	5.37:g.180432842C>A			Somatic					p.P457P	NM_197975.2	NP_932079.1	WXS	Illumina GAIIx	Phase_I	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1555	+	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)	457			B30.2/SPRY.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.1371C>A	CCDS47358.1																																																																																				0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		4	28	4	28	---	---	---	---	A	180432842	C	A	180432842	2	1	73	1	0	0	0	0	0	0	0	1	1566	581	21	1		1	BTNL3	5	180432842	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	23794524	180432842	482418	156	3705										
DSP	1832	broad.mit.edu	37	chr6	7542219	7542219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatccgcgccgagtctggccCggacctgcgctacgaggtga	15	14	1	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.chr6:7542219C>A	ENST00000379802.3	+	1	412	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	DSP_ENST00000418664.2_Missense_Mutation_p.P24Q|RP3-512B11.3_ENST00000561592.1_RNA	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	24	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GAGTCTGGCCCGGACCTGCGC	0.682																																						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.(70-72)cCg>cAg		desmoplakin							11	12	12					6																	7542219		2183	4280	6463	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.chr6:7542219C>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.71C>A	6.37:g.7542219C>A	ENSP00000369129:p.Pro24Gln		Somatic				DSP_ENST00000418664.2_Missense_Mutation_p.P24Q	p.P24Q	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	1	412	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	24			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.71C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308195	0.40895	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73575	-0.43;-0.76	3.67	3.67	0.42095	.	0.178533	0.26586	N	0.023556	T	0.60907	0.2305	N	0.08118	0	0.34902	D	0.746571	D;B	0.71674	0.998;0.024	D;B	0.69654	0.965;0.011	T	0.67348	-0.5693	10	0.38643	T	0.18	.	12.4079	0.55451	0.0:1.0:0.0:0.0	.	71;24	Q4LE79;P15924	.;DESP_HUMAN	Q	24	ENSP00000369129:P24Q;ENSP00000396591:P24Q	ENSP00000369129:P24Q	P	+	2	0	DSP	7487218	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	3.405000	0.52630	1.870000	0.54199	0.555000	0.69702	CCG		0.682	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		3	12	3	12	---	---	---	---	A	7542219	C	A	7542219	3	1	73	1	0	0	0	0	1	0	0	0	4781	652	23	1	73	1	DSP	6	7542219	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		7542219	163572848	157	3706										
RBM24	221662	broad.mit.edu	37	chr6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctgccgcctccaccaccCcttacattgattacactgga	6	17	0	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.chr6:17292081C>A	ENST00000379052.5	+	4	678	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_ENST00000425446.2_Missense_Mutation_p.P90T|RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	148	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592																																						ENST00000379052.5																			3	Substitution - Missense(3)	p.P103T(2)|p.P148T(1)	lung(2)|prostate(1)	endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(442-444)Cct>Act		RNA binding motif protein 24							73	84	80					6																	17292081		2182	4298	6480	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292081C>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.442C>A	6.37:g.17292081C>A	ENSP00000368341:p.Pro148Thr		Somatic				RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T	p.P148T	NM_001143942.1	NP_001137414.1	WXS	Illumina GAIIx	Phase_I	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	678	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	148			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.442C>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052715	0.93793	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.19250	3.41;2.16;3.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.962	T	0.02345	-1.1173	10	0.23302	T	0.38	-3.7181	19.8414	0.96690	0.0:1.0:0.0:0.0	.	103;148	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	T	148;90;103	ENSP00000368341:P148T;ENSP00000396898:P90T;ENSP00000319551:P103T	ENSP00000319551:P103T	P	+	1	0	RBM24	17400060	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	5.743000	0.68655	2.695000	0.91970	0.591000	0.81541	CCT		0.592	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		7	194	7	194	---	---	---	---	A	17292081	C	A	17292081	3	1	73	1	0	0	0	0	1	0	0	0	13124	623	22	1	489	1	RBM24	6	17292081	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9749862	17292081	153822986	158	3707										
MDC1	9656	broad.mit.edu	37	chr6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttatccacagtctgcctccCtctgccttgaatccccattg	5	16	2	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.chr6:30675940C>A	ENST00000376406.3	-	8	3063	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				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)	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532								Other conserved DNA damage response genes																														ENST00000376406.3																			1	Substitution - Missense(1)	p.G806W(1)	lung(1)	breast(2)|kidney(1)|ovary(1)	4						c.(2416-2418)Ggg>Tgg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							214	214	214					6																	30675940		1510	2708	4218	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.chr6:30675940C>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.2416G>T	6.37:g.30675940C>A	ENSP00000365588:p.Gly806Trp		Somatic				MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	p.G806W	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			8	3063	-			806	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.2416G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.163800	0.57476	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02916	4.11	4.96	4.96	0.65561	.	0.232106	0.22296	N	0.061934	T	0.04770	0.0129	L	0.51422	1.61	0.58432	D	0.999993	D	0.67145	0.996	P	0.62885	0.908	T	0.19418	-1.0306	10	0.72032	D	0.01	-3.2187	9.3723	0.38261	0.0:0.9027:0.0:0.0973	.	806	Q14676	MDC1_HUMAN	W	806	ENSP00000365588:G806W	ENSP00000365588:G806W	G	-	1	0	MDC1	30783919	0.130000	0.22417	0.035000	0.18076	0.918000	0.54935	1.837000	0.39201	2.283000	0.76528	0.457000	0.33378	GGG		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		8	222	8	222	---	---	---	---	A	30675940	C	A	30675940	3	1	73	1	0	0	0	0	1	0	0	0	9403	681	24	1	3885	1	MDC1	6	30675940	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13383859	30675940	140439127	159	3708										
CCHCR1	54535	broad.mit.edu	37	chr6	31118575	31118575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcagaaggcacttgttccCcaacatattttcttagattc	5	12	2	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.chr6:31118575C>A	ENST00000376266.5	-	6	883	c.761G>T	c.(760-762)gGg>gTg	p.G254V	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.G343V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	254					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						CACTTGTTCCCCAACATATTT	0.537																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1027-1029)gGg>gTg		coiled-coil alpha-helical rod protein 1							287	305	299					6																	31118575		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118575C>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.761G>T	6.37:g.31118575C>A	ENSP00000365442:p.Gly254Val		Somatic				CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G254V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	p.G343V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			6	1216	-			254					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1028G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.173754	0.38413	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	4.28	3.33	0.38152	.	0.145194	0.44097	D	0.000486	T	0.10594	0.0259	M	0.72118	2.19	0.52501	D	0.999957	D;D;D;D;D	0.89917	1.0;0.996;0.989;1.0;0.994	D;D;D;D;D	0.85130	0.996;0.971;0.943;0.997;0.934	T	0.00430	-1.1744	10	0.72032	D	0.01	-33.3852	9.3134	0.37919	0.0:0.7797:0.2203:0.0	.	254;254;254;307;343	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	V	343;254;254;254;307	ENSP00000379566:G343V;ENSP00000365442:G254V;ENSP00000379561:G254V;ENSP00000401039:G307V	ENSP00000365442:G254V	G	-	2	0	CCHCR1	31226554	0.999000	0.42202	0.812000	0.32479	0.371000	0.29859	2.383000	0.44354	1.968000	0.57251	0.274000	0.19336	GGG		0.537	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		10	345	10	345	---	---	---	---	A	31118575	C	A	31118575	3	1	73	1	0	0	0	0	1	0	0	0	2877	623	22	1	1639	1	CCHCR1	6	31118575	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	442635	31118575	139996492	160	3709										
LTA	4049	broad.mit.edu	37	chr6	31541429	31541429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcatcccccacctagtcCtcagccctagtactgtcttc	6	17	2	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.chr6:31541429C>A	ENST00000454783.1	+	4	835	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	LTA_ENST00000418386.2_Missense_Mutation_p.L193I|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	193					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(577-579)Ctc>Atc		lymphotoxin alpha	Etanercept(DB00005)						156	154	155					6																	31541429		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541429C>A	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"Tumor necrosis factor (ligand) superfamily"	6709	protein-coding gene	gene with protein product	"TNF superfamily member 1"	153440	"lymphotoxin alpha (TNF superfamily, member 1)"	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.577C>A	6.37:g.31541429C>A	ENSP00000403495:p.Leu193Ile		Somatic				LTA_ENST00000418386.2_Missense_Mutation_p.L193I	p.L193I	NM_001159740.2	NP_001153212.1	WXS	Illumina GAIIx	Phase_I	P01374	TNFB_HUMAN			4	835	+			193					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.577C>A	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388749	0.25118	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	D;D	0.94862	-3.54;-3.54	5.69	3.72	0.42706	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.525769	0.20225	N	0.096604	D	0.83372	0.5240	L	0.34521	1.04	0.23266	N	0.998019	B	0.33280	0.405	B	0.37888	0.26	T	0.75852	-0.3171	10	0.46703	T	0.11	-26.1818	5.415	0.16368	0.0:0.6753:0.2005:0.1242	.	193	P01374	TNFB_HUMAN	I	193	ENSP00000403495:L193I;ENSP00000413450:L193I	ENSP00000413450:L193I	L	+	1	0	LTA	31649408	0.014000	0.17966	0.940000	0.37924	0.501000	0.33797	0.068000	0.14531	0.566000	0.29273	0.655000	0.94253	CTC		0.522	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			8	207	8	207	---	---	---	---	A	31541429	C	A	31541429	3	1	73	1	0	0	0	0	1	0	0	0	9068	681	24	1	587	1	LTA	6	31541429	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	422854	31541429	139573638	161	3710										
HSPA1A	3303	broad.mit.edu	37	chr6	31785376	31785376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggactgtaccagggtgccGgtggtcccgggcctgggggc	20	12	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.chr6:31785376G>T	ENST00000375651.5	+	1	2086	c.1843G>T	c.(1843-1845)Ggt>Tgt	p.G615C	HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C|HSPA1L_ENST00000417199.3_5'Flank|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	615					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)			endometrium(1)|ovary(1)|stomach(1)	3						CCAGGGTGCCGGTGGTCCCGG	0.622																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1843-1845)Ggt>Tgt		heat shock 70kDa protein 1A							55	60	59					6																	31785376		1713	3501	5214	SO:0001583	missense	3303				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.chr6:31785376G>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"Heat shock proteins / HSP70"	5232	protein-coding gene	gene with protein product		140550	"heat shock 70kD protein 1A"	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1843G>T	6.37:g.31785376G>T	ENSP00000364802:p.Gly615Cys		Somatic				HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C	p.G615C	NM_005345.5	NP_005336.3	WXS	Illumina GAIIx	Phase_I	P08107	HSP71_HUMAN			1	2086	+			615					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.1843G>T	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.532055	0.27387	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062	T;T	0.16743	2.32;2.32	3.73	2.83	0.33086	.	0.974000	0.08349	N	0.959596	T	0.27663	0.0680	H	0.95187	3.635	0.42471	D	0.992824	D;B	0.61697	0.99;0.003	P;B	0.47573	0.55;0.003	T	0.48969	-0.8987	10	0.66056	D	0.02	-6.2112	10.3011	0.43653	0.0:0.0:0.801:0.199	.	615;450	P08107;Q5SP16	HSP71_HUMAN;.	C	615;450;597;524	ENSP00000364802:G615C;ENSP00000402651:G524C	ENSP00000364802:G615C	G	+	1	0	HSPA1A	31893355	1.000000	0.71417	0.362000	0.25862	0.074000	0.17049	6.172000	0.71932	0.891000	0.36235	0.460000	0.39030	GGT		0.622	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			5	114	5	114	---	---	---	---	T	31785376	G	T	31785376	3	4	73	1	0	0	0	0	1	0	0	0	7408	1116	39	1	1845	1	HSPA1A	6	31785376	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	243947	31785376	139329691	162	3711										
NOTCH4	4855	broad.mit.edu	37	chr6	32164199	32164199	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtgcagcgcagttttccCtaggggacgacgtgggaggt	16	10	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.chr6:32164199C>A	ENST00000375023.3	-	29	5339		c.e29-1		NOTCH4_ENST00000443903.2_Intron|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						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						GCAGTTTTCCCTAGGGGACGA	0.657																																						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.e29-1		notch 4							67	76	73					6																	32164199		1509	2708	4217	SO:0001630	splice_region_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.chr6:32164199C>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.5201-1G>T	6.37:g.32164199C>A			Somatic				NOTCH4_ENST00000443903.2_Intron		NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			29	5339	-								B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Splice_Site	SNP	ENST00000375023.3	37		CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759773	0.69763	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.203	0.73157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH4	32272177	1.000000	0.71417	0.995000	0.50966	0.509000	0.34042	6.837000	0.75354	2.529000	0.85273	0.655000	0.94253	.		0.657	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		Intron	6	110	6	110	---	---	---	---	A	32164199	C	A	32164199	5	1	73	1	0	0	0	0	0	0	1	0	10551	695	24	1	819	1	NOTCH4	6	32164199	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	378823	32164199	138950868	163	3712										
RPS10	6204	broad.mit.edu	37	chr6	34389548	34389548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtatctctgtcagcttccCctcttgtgagtctcgcaggt	10	12	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.chr6:34389548C>A	ENST00000326199.8	-	4	452	c.359G>T	c.(358-360)gGg>gTg	p.G120V	RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.G120V	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	120					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						GTCAGCTTCCCCTCTTGTGAG	0.498																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.(358-360)gGg>gTg									237	240	239					6																	34389548		2203	4300	6503	SO:0001583	missense	100529239							g.chr6:34389548C>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.359G>T	6.37:g.34389548C>A	ENSP00000347271:p.Gly120Val		Somatic				RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000326199.8_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR	p.G120V	NM_001202470.2	NP_001189399.1	WXS	Illumina GAIIx	Phase_I					4	375	-								B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	c.359G>T	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373341	0.82573	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78816	-1.18;-1.21	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000005	T	0.80287	0.4595	M	0.81239	2.535	0.80722	D	1	P	0.45283	0.855	P	0.47573	0.55	T	0.80701	-0.1265	10	0.41790	T	0.15	-18.1051	19.3633	0.94451	0.0:1.0:0.0:0.0	.	120	P46783	RS10_HUMAN	V	120	ENSP00000347271:G120V;ENSP00000363169:G120V	ENSP00000347271:G120V	G	-	2	0	RPS10	34497526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.888000	0.69758	2.651000	0.90000	0.591000	0.81541	GGG		0.498	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			8	331	8	331	---	---	---	---	A	34389548	C	A	34389548	3	1	73	1	0	0	0	0	1	0	0	0	13620	623	22	1	150	1	RPS10	6	34389548	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2225349	34389548	136725519	164	3713										
SCUBE3	222663	broad.mit.edu	37	chr6	35213840	35213840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagcgaggccaacagcgccCgtggcttccagattccctat	10	15	0	1	rs142335824	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.chr6:35213840C>A	ENST00000274938.7	+	20	2719	c.2719C>A	c.(2719-2721)Cgt>Agt	p.R907S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	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						CAACAGCGCCCGTGGCTTCCA	0.542																																						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.(2719-2721)Cgt>Agt		signal peptide, CUB domain, EGF-like 3							144	148	147					6																	35213840		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213840C>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.2719C>A	6.37:g.35213840C>A	ENSP00000274938:p.Arg907Ser		Somatic				SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	p.R907S	NM_152753.2	NP_689966.2	WXS	Illumina GAIIx	Phase_I	Q8IX30	SCUB3_HUMAN			20	2719	+			907			CUB.			Missense_Mutation	SNP	ENST00000274938.7	37	c.2719C>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800654	0.70567	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.17691	2.26;2.26	5.63	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	L	0.28054	0.825	0.47659	D	0.999488	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.02437	-1.1159	10	0.87932	D	0	.	15.5773	0.76400	0.2218:0.7782:0.0:0.0	.	923;907	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	923;907	ENSP00000378174:R923S;ENSP00000274938:R907S	ENSP00000274938:R907S	R	+	1	0	SCUBE3	35321818	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	1.636000	0.37144	2.659000	0.90383	0.650000	0.86243	CGT		0.542	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		6	169	6	169	---	---	---	---	A	35213840	C	A	35213840	3	1	73	1	0	0	0	0	1	0	0	0	13946	652	23	1	2797	1	SCUBE3	6	35213840	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	824292	35213840	135901227	165	3714										
STK38	11329	broad.mit.edu	37	chr6	36467677	36467677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctcatacatgatcacccCaagcgaccaccaatcacaga	4	16	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.chr6:36467677C>A	ENST00000229812.7	-	10	1210	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATCACCCCAAGCGACCAC	0.478																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Ggg>Tgg		serine/threonine kinase 38							229	188	202					6																	36467677		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36467677C>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.925G>T	6.37:g.36467677C>A	ENSP00000229812:p.Gly309Trp		Somatic					p.G309W	NM_007271.2	NP_009202.1	WXS	Illumina GAIIx	Phase_I	Q15208	STK38_HUMAN			10	1210	-			309			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.925G>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588190	0.86851	.	.	ENSG00000112079	ENST00000229812	D	0.82255	-1.59	5.67	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);	0.044508	0.85682	D	0.000000	D	0.93798	0.8017	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96029	0.9015	10	0.87932	D	0	.	14.5975	0.68417	0.0:0.93:0.0:0.07	.	309	Q15208	STK38_HUMAN	W	309	ENSP00000229812:G309W	ENSP00000229812:G309W	G	-	1	0	STK38	36575655	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.818000	0.86416	1.401000	0.46761	0.655000	0.94253	GGG		0.478	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		6	126	6	126	---	---	---	---	A	36467677	C	A	36467677	3	1	73	1	0	0	0	0	1	0	0	0	15302	594	21	1	492	1	STK38	6	36467677	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1253837	36467677	134647390	166	3715										
KLHDC3	116138	broad.mit.edu	37	chr6	42986383	42986383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttccagttggctacaatgGggagctgtacatctttggtg	12	9	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.chr6:42986383G>T	ENST00000326974.4	+	7	941	c.746G>T	c.(745-747)gGg>gTg	p.G249V	KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	249					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTACAATGGGGAGCTGTAC	0.512																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(745-747)gGg>gTg		kelch domain containing 3							226	234	231					6																	42986383		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986383G>T	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.746G>T	6.37:g.42986383G>T	ENSP00000313995:p.Gly249Val		Somatic				KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V	p.G249V	NM_057161.3	NP_476502.1	WXS	Illumina GAIIx	Phase_I	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	941	+			249					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.746G>T	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601266	0.87055	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	5.54	0.83059	.	0.050890	0.85682	D	0.000000	D	0.87853	0.6282	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.992;0.991;0.988;0.991	D	0.91045	0.4874	10	0.87932	D	0	-5.0592	17.6498	0.88159	0.0:0.0:1.0:0.0	.	249;190;115;249	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	V	249;249;115;249;222;190	ENSP00000313995:G249V;ENSP00000244670:G115V;ENSP00000331562:G190V	ENSP00000244670:G115V	G	+	2	0	KLHDC3	43094361	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.492000	0.97957	2.599000	0.87857	0.462000	0.41574	GGG		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		9	336	9	336	---	---	---	---	T	42986383	G	T	42986383	3	4	73	1	0	0	0	0	1	0	0	0	8357	1232	43	1	768	1	KLHDC3	6	42986383	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	6518706	42986383	128128684	167	3716										
DST	667	broad.mit.edu	37	chr6	56483809	56483809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacttctttcttggtattctGgatgataatgttctgttggt	9	5	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.chr6:56483809G>T	ENST00000370765.6	-	23	5130	c.5023C>A	c.(5023-5025)Cag>Aag	p.Q1675K	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3745					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)			TTGGTATTCTGGATGATAATG	0.383																																						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.(5023-5025)Cag>Aag		dystonin							117	125	122					6																	56483809		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.chr6:56483809G>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.5023C>A	6.37:g.56483809G>T	ENSP00000359801:p.Gln1675Lys		Somatic				DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	p.Q1675K	NM_001723.5	NP_001714.1	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5130	-	Lung NSC(77;0.103)		1035					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.5023C>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168743	0.57584	.	.	ENSG00000151914	ENST00000370765	T	0.28069	1.63	5.35	3.55	0.40652	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.09310	N	0.999999	P	0.41265	0.744	B	0.39027	0.288	T	0.12426	-1.0548	7	0.15499	T	0.54	.	7.3111	0.26475	0.1459:0.0:0.7159:0.1382	.	1675	Q03001-3	.	K	1675	ENSP00000359801:Q1675K	ENSP00000359801:Q1675K	Q	-	1	0	DST	56591768	0.993000	0.37304	1.000000	0.80357	0.980000	0.70556	0.711000	0.25764	1.394000	0.46624	0.650000	0.86243	CAG		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		6	154	6	154	---	---	---	---	T	56483809	G	T	56483809	3	4	73	1	0	0	0	0	1	0	0	0	4783	1357	47	1	15380	1	DST	6	56483809	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	13497426	56483809	114631258	168	3717										
BAI3	577	broad.mit.edu	37	chr6	69703722	69703722	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggaatgtcccaggtgacCaagacactgttggatttaac	11	8	0	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.chr6:69703722C>A	ENST00000370598.1	+	11	2618	c.1797C>A	c.(1795-1797)acC>acA	p.T599T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	599					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)				CCCAGGTGACCAAGACACTGT	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.(1795-1797)acC>acA		brain-specific angiogenesis inhibitor 3							206	215	212					6																	69703722		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.chr6:69703722C>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.1797C>A	6.37:g.69703722C>A			Somatic					p.T599T	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			11	2618	+		all_lung(197;0.212)	599					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1797C>A	CCDS4968.1																																																																																				0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			7	281	7	281	---	---	---	---	A	69703722	C	A	69703722	2	1	73	1	0	0	0	0	0	0	0	1	1300	581	21	1		1	BAI3	6	69703722	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13219913	69703722	101411345	169	3718										
MDN1	23195	broad.mit.edu	37	chr6	90383966	90383966	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccgcatccggcaaccagaGggcagctgacttccaggtat	11	13	0	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.chr6:90383966G>T	ENST00000369393.3	-	79	13219	c.13104C>A	c.(13102-13104)ccC>ccA	p.P4368P	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.P4368P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4368					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)		GGCAACCAGAGGGCAGCTGAC	0.473																																						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.(13102-13104)ccC>ccA		MDN1, midasin homolog (yeast)							111	100	103					6																	90383966		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.chr6:90383966G>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.13104C>A	6.37:g.90383966G>T			Somatic				MDN1_ENST00000428876.1_Silent_p.P4368P|RP1-122O8.7_ENST00000438877.1_RNA	p.P4368P			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	13219	-		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)	4368					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.13104C>A	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	60	5	60	---	---	---	---	T	90383966	G	T	90383966	2	4	73	1	0	0	0	0	0	0	0	1	9415	987	35	1		1	MDN1	6	90383966	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	20680244	90383966	80731101	170	3719										
EPHA7	2045	broad.mit.edu	37	chr6	93982058	93982058	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tattctgtgatgactccattGggatgctctggttcctgcca	10	10	2	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.chr6:93982058G>T	ENST00000369303.4	-	6	1591	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	469	Fibronectin type-III 2. {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)		TGACTCCATTGGGATGCTCTG	0.458																																						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.(1405-1407)ccC>ccA		EPH receptor A7							289	266	274					6																	93982058		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93982058G>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.1407C>A	6.37:g.93982058G>T			Somatic					p.P469P	NM_004440.3	NP_004431.1	WXS	Illumina GAIIx	Phase_I	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	6	1591	-		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)	469			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1407C>A	CCDS5031.1																																																																																				0.458	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			6	184	6	184	---	---	---	---	T	93982058	G	T	93982058	2	4	73	1	0	0	0	0	0	0	0	1	5172	1335	47	1		1	EPHA7	6	93982058	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3598092	93982058	77133009	171	3720										
C6orf168	84553	broad.mit.edu	37	chr6	99729207	99729207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaatccagcagcggggtgtGggttttgctgccttcgctgc	14	10	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.chr6:99729207G>T	ENST00000389677.5	-	6	1345	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	355						integral component of membrane (GO:0016021)											AGCGGGGTGTGGGTTTTGCTG	0.473																																						ENST00000389677.5																			0											c.(1063-1065)Cac>Aac		failed axon connections homolog (Drosophila)							107	103	104					6																	99729207		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729207G>T	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1063C>A	6.37:g.99729207G>T	ENSP00000374328:p.His355Asn		Somatic				FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	p.H355N	NM_032511.2	NP_115900.1	WXS	Illumina GAIIx	Phase_I	Q5TGI0	CF168_HUMAN			6	1345	-			355					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1063C>A	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	0.964	-0.702293	0.03255	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	4.36	0.52297	.	0.423911	0.26268	N	0.025350	T	0.22475	0.0542	L	0.36672	1.1	0.45183	D	0.998199	B	0.25169	0.119	B	0.21917	0.037	T	0.07927	-1.0747	9	0.02654	T	1	-29.4086	10.661	0.45702	0.0735:0.133:0.7935:0.0	.	355	Q5TGI0	CF168_HUMAN	N	355;75	.	ENSP00000374328:H355N	H	-	1	0	C6orf168	99835928	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.462000	0.45049	2.459000	0.83118	0.655000	0.94253	CAC		0.473	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		5	74	5	74	---	---	---	---	T	99729207	G	T	99729207	3	4	73	1	0	0	0	0	1	0	0	0	2343	1348	47	1	170	1	C6orf168	6	99729207	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5747149	99729207	71385860	172	3721										
RFX6	222546	broad.mit.edu	37	chr6	117250126	117250126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagttgcatgtcgaactcCagtcctaggtaaattatttt	7	9	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.chr6:117250126C>A	ENST00000332958.2	+	18	2619	c.2603C>A	c.(2602-2604)cCa>cAa	p.P868Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	868					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						TGTCGAACTCCAGTCCTAGGT	0.393																																						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.(2602-2604)cCa>cAa		regulatory factor X, 6							102	92	96					6																	117250126		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.chr6:117250126C>A	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.2603C>A	6.37:g.117250126C>A	ENSP00000332208:p.Pro868Gln		Somatic					p.P868Q	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			18	2619	+			868					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2603C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618612	0.46736	.	.	ENSG00000185002	ENST00000332958	T	0.54675	0.56	5.63	5.63	0.86233	.	0.402842	0.27406	N	0.019516	T	0.20292	0.0488	N	0.19112	0.55	0.26906	N	0.966995	P	0.34780	0.468	B	0.29267	0.1	T	0.07195	-1.0785	10	0.27785	T	0.31	-10.7128	15.3004	0.73945	0.1407:0.8593:0.0:0.0	.	868	Q8HWS3	RFX6_HUMAN	Q	868	ENSP00000332208:P868Q	ENSP00000332208:P868Q	P	+	2	0	RFX6	117356819	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.055000	0.57441	2.814000	0.96858	0.655000	0.94253	CCA		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		5	82	5	82	---	---	---	---	A	117250126	C	A	117250126	3	1	73	1	0	0	0	0	1	0	0	0	13267	594	21	1	2673	1	RFX6	6	117250126	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	17520919	117250126	53864941	173	3722										
SLC35F1	222553	broad.mit.edu	37	chr6	118588180	118588180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggactgttttgtgatccCagtcgtgattttgctctcct	9	11	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.chr6:118588180C>A	ENST00000360388.4	+	4	701	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	167					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGTGATCCCAGTCGTGATT	0.483																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(499-501)cCa>cAa		solute carrier family 35, member F1							377	346	357					6																	118588180		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118588180C>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.500C>A	6.37:g.118588180C>A	ENSP00000353557:p.Pro167Gln		Somatic					p.P167Q	NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	4	701	+			167					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.500C>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864769	0.91511	.	.	ENSG00000196376	ENST00000360388	T	0.69685	-0.42	4.99	4.99	0.66335	.	0.057752	0.64402	D	0.000001	T	0.82001	0.4942	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83385	0.0014	10	0.59425	D	0.04	-11.869	18.8278	0.92125	0.0:1.0:0.0:0.0	.	167	Q5T1Q4	S35F1_HUMAN	Q	167	ENSP00000353557:P167Q	ENSP00000353557:P167Q	P	+	2	0	SLC35F1	118694873	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.278000	0.78587	2.756000	0.94617	0.561000	0.74099	CCA		0.483	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	354	9	354	---	---	---	---	A	118588180	C	A	118588180	3	1	73	1	0	0	0	0	1	0	0	0	14588	594	21	1	514	1	SLC35F1	6	118588180	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1338054	118588180	52526887	174	3723										
FAM184A	79632	broad.mit.edu	37	chr6	119345262	119345262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtaaaattgcttcttgtccCtgaaattcttttctaagatc	5	9	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.chr6:119345262C>A	ENST00000338891.7	-	2	1319	c.876G>T	c.(874-876)caG>caT	p.Q292H	FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	292						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						CTTCTTGTCCCTGAAATTCTT	0.383																																						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.(874-876)caG>caT		family with sequence similarity 184, member A							109	102	104					6																	119345262		1819	4076	5895	SO:0001583	missense	79632							g.chr6:119345262C>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.876G>T	6.37:g.119345262C>A	ENSP00000342604:p.Gln292His		Somatic				RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H	p.Q292H	NM_024581.4	NP_078857.5	WXS	Illumina GAIIx	Phase_I	Q8NB25	F184A_HUMAN			2	1319	-			292					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.876G>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540727	0.27563	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.04	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.73962	2.25	0.50813	D	0.999898	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.994;0.955;0.996	T	0.41963	-0.9479	10	0.56958	D	0.05	-14.0733	8.267	0.31819	0.0:0.4837:0.0:0.5163	.	292;172;292	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	292;172;172;292;172	ENSP00000342604:Q292H;ENSP00000326608:Q172H;ENSP00000357460:Q172H;ENSP00000430442:Q292H;ENSP00000429826:Q172H	ENSP00000342604:Q292H	Q	-	3	2	FAM184A	119386961	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	0.749000	0.26320	0.456000	0.26937	0.460000	0.39030	CAG		0.383	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		6	150	6	150	---	---	---	---	A	119345262	C	A	119345262	3	1	73	1	0	0	0	0	1	0	0	0	5511	680	24	1	2614	1	FAM184A	6	119345262	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	757082	119345262	51769805	175	3724										
CLVS2	134829	broad.mit.edu	37	chr6	123319157	123319157	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcgcagtactttgagtacCggcagcagaacctggacatg	13	10	0	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.chr6:123319157C>A	ENST00000275162.5	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	79					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						CTTTGAGTACCGGCAGCAGAA	0.557																																						ENST00000275162.5																			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.(235-237)Cgg>Agg		clavesin 2							130	117	121					6																	123319157		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.chr6:123319157C>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.235C>A	6.37:g.123319157C>A			Somatic				CLVS2_ENST00000368438.1_Intron	p.R79R	NM_001010852.3	NP_001010852.2	WXS	Illumina GAIIx	Phase_I	Q5SYC1	CLVS2_HUMAN			2	1570	+								B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.235C>A	CCDS34525.1																																																																																				0.557	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		5	154	5	154	---	---	---	---	A	123319157	C	A	123319157	2	1	73	1	0	0	0	0	0	0	0	1	3572	643	23	1		1	CLVS2	6	123319157	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3973895	123319157	47795910	176	3725										
ENPP1	5167	broad.mit.edu	37	chr6	132182820	132182820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaattaacggaattttccCagacatctataaaatgtata	6	6	1	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.chr6:132182820C>A	ENST00000360971.2	+	9	1021	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	334	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)	GGAATTTTCCCAGACATCTAT	0.353																																					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.(1000-1002)cCa>cAa		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						72	73	73					6																	132182820		2203	4300	6503	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.chr6:132182820C>A	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.1001C>A	6.37:g.132182820C>A	ENSP00000354238:p.Pro334Gln		Somatic					p.P334Q	NM_006208.2	NP_006199.2	WXS	Illumina GAIIx	Phase_I	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	9	1021	+	Breast(56;0.0505)		334			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1001C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754772	0.89843	.	.	ENSG00000197594	ENST00000360971	D	0.88124	-2.34	5.77	5.77	0.91146	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96314	0.9231	10	0.87932	D	0	-13.1882	19.9941	0.97377	0.0:1.0:0.0:0.0	.	334	P22413	ENPP1_HUMAN	Q	334	ENSP00000354238:P334Q	ENSP00000354238:P334Q	P	+	2	0	ENPP1	132224513	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.051000	0.76627	2.729000	0.93468	0.557000	0.71058	CCA		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			5	96	5	96	---	---	---	---	A	132182820	C	A	132182820	3	1	73	1	0	0	0	0	1	0	0	0	5129	594	21	1	1035	1	ENPP1	6	132182820	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8863663	132182820	38932247	177	3726										
SGK1	6446	broad.mit.edu	37	chr6	134493334	134493334	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaagacagcgcctacctcCggcgtgccacagaaggtgga	12	14	0	2	rs139370799	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.chr6:134493334C>A	ENST00000237305.7	-	8	871	c.783G>T	c.(781-783)ccG>ccT	p.P261P	SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000367858.5_Silent_p.P356P	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CGCCTACCTCCGGCGTGCCAC	0.483																																						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.(1066-1068)ccG>ccT		serum/glucocorticoid regulated kinase 1							246	228	234					6																	134493334		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.chr6:134493334C>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.783G>T	6.37:g.134493334C>A			Somatic				SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000237305.7_Silent_p.P261P	p.P356P	NM_001143676.1	NP_001137148.1	WXS	Illumina GAIIx	Phase_I	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1665	-	Colorectal(23;0.221)		261			AGC-kinase C-terminal.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1068G>T	CCDS5170.1																																																																																				0.483	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			5	206	5	206	---	---	---	---	A	134493334	C	A	134493334	2	1	73	1	0	0	0	0	0	0	0	1	14207	639	23	1		1	SGK1	6	134493334	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2310514	134493334	36621733	178	3727										
OLIG3	167826	broad.mit.edu	37	chr6	137815150	137815150	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcccgcgagaggctttccCcgggcatcttctgcatcata	10	15	3	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.chr6:137815150C>A	ENST00000367734.2	-	1	381	c.158G>T	c.(157-159)gGg>gTg	p.G53V		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	53					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)			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)		GAGGCTTTCCCCGGGCATCTT	0.617																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(157-159)gGg>gTg		oligodendrocyte transcription factor 3							80	83	82					6																	137815150		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815150C>A	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.158G>T	6.37:g.137815150C>A	ENSP00000356708:p.Gly53Val		Somatic					p.G53V	NM_175747.2	NP_786923.1	WXS	Illumina GAIIx	Phase_I	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	381	-	Breast(32;0.165)|Colorectal(23;0.24)		53					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.158G>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311878	0.23821	.	.	ENSG00000177468	ENST00000367734	D	0.99479	-5.98	5.55	5.55	0.83447	.	0.083064	0.50627	D	0.000107	D	0.95468	0.8528	N	0.14661	0.345	0.58432	D	0.999998	B	0.33694	0.421	B	0.29267	0.1	D	0.95395	0.8485	10	0.46703	T	0.11	-2.4055	10.0579	0.42257	0.0:0.8499:0.0:0.1501	.	53	Q7RTU3	OLIG3_HUMAN	V	53	ENSP00000356708:G53V	ENSP00000356708:G53V	G	-	2	0	OLIG3	137856843	0.928000	0.31464	0.992000	0.48379	0.564000	0.35744	1.676000	0.37565	2.594000	0.87642	0.591000	0.81541	GGG		0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	139	7	139	---	---	---	---	A	137815150	C	A	137815150	3	1	73	1	0	0	0	0	1	0	0	0	10862	623	22	1	664	1	OLIG3	6	137815150	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3321816	137815150	33299917	179	3728										
TULP4	56995	broad.mit.edu	37	chr6	158873275	158873275	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactacgatgacttgtctccCacggtcatccgctcagggct	9	14	3	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.chr6:158873275C>A	ENST00000367097.3	+	5	2191	c.834C>A	c.(832-834)ccC>ccA	p.P278P	TULP4_ENST00000367094.2_Silent_p.P278P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	278					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)		ACTTGTCTCCCACGGTCATCC	0.552																																						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.(832-834)ccC>ccA		tubby like protein 4							147	107	121					6																	158873275		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.chr6:158873275C>A		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.834C>A	6.37:g.158873275C>A			Somatic				TULP4_ENST00000367094.2_Silent_p.P278P	p.P278P	NM_020245.4	NP_064630.2	WXS	Illumina GAIIx	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	5	2191	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	278					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.834C>A	CCDS34561.1																																																																																				0.552	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		5	63	5	63	---	---	---	---	A	158873275	C	A	158873275	2	1	73	1	0	0	0	0	0	0	0	1	16773	581	21	1		1	TULP4	6	158873275	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	21058125	158873275	12241792	180	3729										
PDE10A	10846	broad.mit.edu	37	chr6	165832169	165832169	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggttttccttccttttcctCtccaatatcaaaaaggtctg	5	11	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.chr6:165832169C>A	ENST00000366882.1	-	12	1076	c.922G>T	c.(922-924)Gag>Tag	p.E308*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	308	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)	TCCTTTTCCTCTCCAATATCA	0.418																																					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.(922-924)Gag>Tag		phosphodiesterase 10A	Dipyridamole(DB00975)						124	112	116					6																	165832169		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.chr6:165832169C>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.922G>T	6.37:g.165832169C>A	ENSP00000355847:p.Glu308*		Somatic				PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*	p.E308*			WXS	Illumina GAIIx	Phase_I	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)	12	1076	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	308			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37	c.922G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.628512	0.97718	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	18.6859	0.91563	0.0:1.0:0.0:0.0	.	.	.	.	X	308;336;318;308;307	.	ENSP00000341187:E318X	E	-	1	0	PDE10A	165752159	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.329000	0.79170	2.416000	0.81992	0.655000	0.94253	GAG		0.418	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			5	70	5	70	---	---	---	---	A	165832169	C	A	165832169	4	1	73	1	0	0	0	0	0	1	0	0	11630	922	32	3	1465	3	PDE10A	6	165832169	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6958894	165832169	5282898	181	3730										
C6orf120	387263	broad.mit.edu	37	chr6	170102663	170102663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggacgaggaggaggtcccCgaggagtgggtgctcctgca	19	10	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.chr6:170102663C>A	ENST00000332290.2	+	1	407	c.108C>A	c.(106-108)ccC>ccA	p.P36P	C6orf120_ENST00000439249.1_Silent_p.P55P|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000333572.6_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	36					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGGAGGTCCCCGAGGAGTGGG	0.692																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(106-108)ccC>ccA		chromosome 6 open reading frame 120							27	28	28					6																	170102663		2203	4298	6501	SO:0001819	synonymous_variant	387263					extracellular region		g.chr6:170102663C>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.108C>A	6.37:g.170102663C>A			Somatic				C6orf120_ENST00000439249.1_Silent_p.P55P	p.P36P	NM_001029863.1	NP_001025034.1	WXS	Illumina GAIIx	Phase_I	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	407	+		Breast(66;0.000338)	36					B4DHE9|E1P5C9	Silent	SNP	ENST00000332290.2	37	c.108C>A	CCDS34575.1																																																																																				0.692	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		4	34	4	34	---	---	---	---	A	170102663	C	A	170102663	2	1	73	1	0	0	0	0	0	0	0	1	2324	639	23	1		1	C6orf120	6	170102663	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4270494	170102663	1012404	182	3731										
NUDT1	29886	broad.mit.edu	37	chr7	2289565	2289565	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatcgtgtttgagttcgtgGgcgagcctgagctcatggac	15	8	1	3	rs374729233		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.chr7:2289565G>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000397049.1_Missense_Mutation_p.G99C|NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						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)		TGAGTTCGTGGGCGAGCCTGA	0.657																																						ENST00000397049.1																			0				large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(295-297)Ggc>Tgc	Modulation of nucleotide pools	nudix (nucleoside diphosphate linked moiety X)-type motif 1							267	199	222					7																	2289565		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2289565G>T	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		7.37:g.2289565G>T			Somatic				NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C	p.G99C	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	WXS	Illumina GAIIx	Phase_I	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	4	397	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	117			Nudix hydrolase.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.295G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416004	0.62511	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06	5.41	5.41	0.78517	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04320	-1.0960	10	0.72032	D	0.01	-15.1061	19.1863	0.93645	0.0:0.0:1.0:0.0	.	117	P36639	8ODP_HUMAN	C	76;99;76;99;99;76	ENSP00000349148:G76C;ENSP00000380242:G99C;ENSP00000380239:G76C;ENSP00000380241:G99C;ENSP00000339503:G99C;ENSP00000343439:G76C	ENSP00000343439:G76C	G	+	1	0	NUDT1	2256091	1.000000	0.71417	0.911000	0.35937	0.088000	0.18126	8.570000	0.90748	2.521000	0.84997	0.561000	0.74099	GGC		0.657	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			6	119	6	119	---	---	---	---	T	2289565	G	T	2289565	1	4	73	0	1	0	0	0	0	0	0	0	10725	1232	43	1		1	NUDT1	7	2289565	IGR	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		2289565	156849098	183	3732										
FOXK1	221937	broad.mit.edu	37	chr7	4780549	4780549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagaggccccagcctcccCgctgcggccactgtaccccc	10	20	0	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.chr7:4780549C>A	ENST00000328914.4	+	2	641	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647																																						ENST00000328914.4																			4	Substitution - Missense(4)	p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)	large_intestine(2)|lung(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(640-642)cCg>cAg		forkhead box K1							105	113	110					7																	4780549		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle 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|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.chr7:4780549C>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.641C>A	7.37:g.4780549C>A	ENSP00000328720:p.Pro214Gln		Somatic				FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	p.P214Q	NM_001037165.1	NP_001032242.1	WXS	Illumina GAIIx	Phase_I	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	2	641	+		Ovarian(82;0.0175)	214						Missense_Mutation	SNP	ENST00000328914.4	37	c.641C>A	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240773	0.79912	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.96136	-3.63;-3.92	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.68317	2.08	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.845	D;D;P	0.91635	0.999;0.995;0.513	D	0.97390	0.9988	10	0.51188	T	0.08	.	17.8708	0.88810	0.0:1.0:0.0:0.0	.	214;97;51	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	Q	51;214;97	ENSP00000394442:P51Q;ENSP00000328720:P214Q	ENSP00000328720:P214Q	P	+	2	0	FOXK1	4747075	1.000000	0.71417	0.679000	0.29978	0.718000	0.41266	7.684000	0.84104	2.449000	0.82847	0.563000	0.77884	CCG		0.647	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	198	5	198	---	---	---	---	A	4780549	C	A	4780549	3	1	73	1	0	0	0	0	1	0	0	0	6014	652	23	1	647	1	FOXK1	7	4780549	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2490984	4780549	154358114	184	3733										
THSD7A	221981	broad.mit.edu	37	chr7	11675890	11675890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttttcttaataagctcgcGggcttctggatcctttactc	7	11	2	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.chr7:11675890G>T	ENST00000423059.4	-	2	1140	c.889C>A	c.(889-891)Cgc>Agc	p.R297S	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	297					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R297C(1)		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)		ATAAGCTCGCGGGCTTCTGGA	0.463										HNSCC(18;0.044)																												ENST00000423059.4																			1	Substitution - Missense(1)	p.R297C(1)	endometrium(1)	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.(889-891)Cgc>Agc		thrombospondin, type I, domain containing 7A							140	133	135					7																	11675890		1866	4111	5977	SO:0001583	missense	221981					integral to membrane		g.chr7:11675890G>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.889C>A	7.37:g.11675890G>T	ENSP00000406482:p.Arg297Ser	HNSCC(18;0.044)	Somatic					p.R297S	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1140	-									Missense_Mutation	SNP	ENST00000423059.4	37	c.889C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264967	0.40095	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59083	0.29	5.62	4.72	0.59763	.	0.094270	0.64402	D	0.000001	T	0.48447	0.1500	L	0.47716	1.5	0.49687	D	0.999811	P	0.46621	0.881	B	0.40825	0.341	T	0.49072	-0.8977	10	0.07030	T	0.85	.	16.0879	0.81070	0.0:0.0:0.865:0.135	.	297	Q9UPZ6	THS7A_HUMAN	S	297	ENSP00000406482:R297S	ENSP00000262042:R297S	R	-	1	0	THSD7A	11642415	1.000000	0.71417	0.990000	0.47175	0.425000	0.31504	6.094000	0.71431	1.462000	0.47948	0.585000	0.79938	CGC		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	212	6	212	---	---	---	---	T	11675890	G	T	11675890	3	4	73	1	0	0	0	0	1	0	0	0	15876	1116	39	1	4188	1	THSD7A	7	11675890	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	6895341	11675890	147462773	185	3734										
THSD7A	221981	broad.mit.edu	37	chr7	11676569	11676569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgggaccacattcatctccCatacatcggccccatggacc	7	18	2	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.chr7:11676569C>A	ENST00000423059.4	-	2	461	c.210G>T	c.(208-210)atG>atT	p.M70I	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	70	TSP type-1 1. {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)		p.M70I(1)		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)		ATTCATCTCCCATACATCGGC	0.463										HNSCC(18;0.044)																												ENST00000423059.4																			1	Substitution - Missense(1)	p.M70I(1)	lung(1)	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.(208-210)atG>atT		thrombospondin, type I, domain containing 7A							75	76	76					7																	11676569		2007	4170	6177	SO:0001583	missense	221981					integral to membrane		g.chr7:11676569C>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.210G>T	7.37:g.11676569C>A	ENSP00000406482:p.Met70Ile	HNSCC(18;0.044)	Somatic				THSD7A_ENST00000480061.1_5'UTR	p.M70I	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	461	-						TSP type-1 1.			Missense_Mutation	SNP	ENST00000423059.4	37	c.210G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584560	0.46110	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58210	0.35	6.02	6.02	0.97574	.	0.000000	0.85682	U	0.000000	T	0.46521	0.1397	L	0.38175	1.15	0.80722	D	1	B	0.24823	0.112	B	0.24006	0.05	T	0.30736	-0.9968	10	0.17832	T	0.49	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	70	Q9UPZ6	THS7A_HUMAN	I	70	ENSP00000406482:M70I	ENSP00000262042:M70I	M	-	3	0	THSD7A	11643094	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.089000	0.71384	2.850000	0.98022	0.650000	0.86243	ATG		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	124	6	124	---	---	---	---	A	11676569	C	A	11676569	3	1	73	1	0	0	0	0	1	0	0	0	15876	594	21	1	4867	1	THSD7A	7	11676569	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	679	11676569	147462094	186	3735										
DNAH11	8701	broad.mit.edu	37	chr7	21932083	21932083	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaccaggttttgctgcccCaccctacctagattatgcag	9	14	0	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.chr7:21932083C>A	ENST00000409508.3	+	77	12579	c.12548C>A	c.(12547-12549)cCa>cAa	p.P4183Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.P4190Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4190					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						TTTGCTGCCCCACCCTACCTA	0.473									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.(12568-12570)cCa>cAa		dynein, axonemal, heavy chain 11							203	199	200					7																	21932083		1953	4146	6099	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.chr7:21932083C>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.12548C>A	7.37:g.21932083C>A	ENSP00000475939:p.Pro4183Gln		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.P4183Q	p.P4190Q			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			78	12600	+			4190					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12569C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.144967	0.94603	.	.	ENSG00000105877	ENST00000328843	T	0.49720	0.77	6.08	6.08	0.98989	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74399	-0.3678	9	0.87932	D	0	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	4190	Q96DT5	DYH11_HUMAN	Q	4190	ENSP00000330671:P4190Q	ENSP00000330671:P4190Q	P	+	2	0	DNAH11	21898608	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	5.923000	0.70045	2.894000	0.99253	0.655000	0.94253	CCA		0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		8	287	8	287	---	---	---	---	A	21932083	C	A	21932083	3	1	73	1	0	0	0	0	1	0	0	0	4599	594	21	1	12876	1	DNAH11	7	21932083	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10255514	21932083	137206580	187	3736										
HOXA10	3206	broad.mit.edu	37	chr7	27211549	27211549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaagttggctgtgagctccCggatccggttttctcgattc	11	10	1	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.chr7:27211549C>A	ENST00000283921.4	-	2	1201	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	HOXA9_ENST00000497089.1_5'Flank|MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'UTR|HOXA-AS4_ENST00000523790.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|HOXA-AS4_ENST00000519694.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	401					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						TGTGAGCTCCCGGATCCGGTT	0.512																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1201-1203)cGg>cTg		homeobox A10							81	91	88					7																	27211549		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211549C>A		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.1202G>T	7.37:g.27211549C>A	ENSP00000283921:p.Arg401Leu		Somatic				HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron	p.R401L	NM_018951.3	NP_061824.3	WXS	Illumina GAIIx	Phase_I	P31260	HXA10_HUMAN			2	1201	-			401					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1202G>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419729	0.83559	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.94862	-2.96;-3.54	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000008	D	0.96513	0.8862	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.053	D;B	0.91635	0.999;0.07	D	0.96768	0.9566	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	401;85	P31260;Q504T1	HXA10_HUMAN;.	L	401;85	ENSP00000283921:R401L;ENSP00000379633:R85L	ENSP00000283921:R401L	R	-	2	0	HOXA10	27178074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.688000	0.91661	0.563000	0.77884	CGG		0.512	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			4	101	4	101	---	---	---	---	A	27211549	C	A	27211549	3	1	73	1	0	0	0	0	1	0	0	0	7289	652	23	1	34	1	HOXA10	7	27211549	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5279466	27211549	131927114	188	3737										
GPR141	353345	broad.mit.edu	37	chr7	37780690	37780690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaaaacctattttttatagGggtcatccttgtttgtttcc	7	7	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.chr7:37780690G>T	ENST00000447769.1	+	4	984	c.695G>T	c.(694-696)gGg>gTg	p.G232V	GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	232						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						TTTTTTATAGGGGTCATCCTT	0.418																																						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.(694-696)gGg>gTg		G protein-coupled receptor 141							157	158	158					7																	37780690		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780690G>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.695G>T	7.37:g.37780690G>T	ENSP00000390410:p.Gly232Val		Somatic				GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron	p.G232V			WXS	Illumina GAIIx	Phase_I	Q7Z602	GP141_HUMAN			4	984	+			232					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.695G>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	8.909	0.958144	0.18507	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.34859	1.34;1.34	5.2	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.435899	0.22772	N	0.055824	T	0.19208	0.0461	N	0.20685	0.6	0.09310	N	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.25916	-1.0118	10	0.07644	T	0.81	-3.0812	8.7487	0.34602	0.0:0.1358:0.4585:0.4057	.	232	Q7Z602	GP141_HUMAN	V	232	ENSP00000390410:G232V;ENSP00000334540:G232V	ENSP00000334540:G232V	G	+	2	0	GPR141	37747215	0.141000	0.22595	0.508000	0.27688	0.988000	0.76386	2.260000	0.43267	0.837000	0.34925	0.655000	0.94253	GGG		0.418	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		7	190	7	190	---	---	---	---	T	37780690	G	T	37780690	3	4	73	1	0	0	0	0	1	0	0	0	6649	1232	43	1	697	1	GPR141	7	37780690	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	10569141	37780690	121357973	189	3738										
C7orf10	79783	broad.mit.edu	37	chr7	40789094	40789094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtggggaagatttccgtccCaggtctgaaaagttttggta	13	6	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.chr7:40789094C>A	ENST00000335693.4	+	13	1195	c.1172C>A	c.(1171-1173)cCa>cAa	p.P391Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000309930.5_Missense_Mutation_p.P417Q	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		391					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						ATTTCCGTCCCAGGTCTGAAA	0.388																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1249-1251)cCa>cAa		chromosome 7 open reading frame 10							196	183	187					7																	40789094		1830	4085	5915	SO:0001583	missense	79783						transferase activity	g.chr7:40789094C>A																												ENST00000335693.4:c.1172C>A	7.37:g.40789094C>A	ENSP00000338475:p.Pro391Gln		Somatic				C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.P391Q	p.P417Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			14	1274	+			391					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1250C>A	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558902	0.65538	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86865	-2.18;-1.04;-1.04	6.07	6.07	0.98685	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.54965	1.715	0.80722	D	1	D;D;D	0.69078	0.989;0.994;0.997	P;P;D	0.66716	0.854;0.885;0.946	D	0.91989	0.5601	10	0.87932	D	0	-2.4406	19.6475	0.95784	0.0:1.0:0.0:0.0	.	343;391;380	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	Q	417;343;391	ENSP00000312054:P417Q;ENSP00000385222:P343Q;ENSP00000338475:P391Q	ENSP00000312054:P417Q	P	+	2	0	C7orf10	40755619	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.897000	0.63231	2.885000	0.99019	0.655000	0.94253	CCA		0.388	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			8	153	8	153	---	---	---	---	A	40789094	C	A	40789094	3	1	73	1	0	0	0	0	1	0	0	0	2376	594	21	1	1193	1	C7orf10	7	40789094	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3008404	40789094	118349569	190	3739										
DDX56	54606	broad.mit.edu	37	chr7	44612250	44612250	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaccaccaaaagctccagGgagtcacgaagtttcaggct	9	13	2	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.chr7:44612250G>T	ENST00000258772.5	-	4	583	c.477C>A	c.(475-477)tcC>tcA	p.S159S	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.S159S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	159	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						AAAGCTCCAGGGAGTCACGAA	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.(475-477)tcC>tcA		DEAD (Asp-Glu-Ala-Asp) box helicase 56							146	143	144					7																	44612250		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612250G>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.477C>A	7.37:g.44612250G>T			Somatic				DDX56_ENST00000431640.1_Silent_p.S159S|DDX56_ENST00000485367.1_5'UTR	p.S159S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	WXS	Illumina GAIIx	Phase_I	Q9NY93	DDX56_HUMAN			4	583	-			159			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.477C>A	CCDS5492.1																																																																																				0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		7	173	7	173	---	---	---	---	T	44612250	G	T	44612250	2	4	73	1	0	0	0	0	0	0	0	1	4374	1219	43	1		1	DDX56	7	44612250	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3823156	44612250	114526413	191	3740										
ELN	2006	broad.mit.edu	37	chr7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggcgtggctcctggtgtcGgtgtggctcctggagttggc	18	9	0	0	rs200557183		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.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C	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)				TCCTGGTGTCGGTGTGGCTCC	0.602			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.(1468-1470)Ggt>Tgt		elastin	Rofecoxib(DB00533)						214	201	206					7																	73474269		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.chr7:73474269G>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.1468G>T	7.37:g.73474269G>T	ENSP00000252034:p.Gly490Cys		Somatic				ELN_ENST00000320399.6_Missense_Mutation_p.G490C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C	p.G490C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	WXS	Illumina GAIIx	Phase_I	P15502	ELN_HUMAN			23	1867	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1468G>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018700	0.35606	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.29;1.24;1.19;1.25;1.27;1.22;1.25;1.27;1.23;1.22;1.3;1.15;1.29;1.22	1.83	1.83	0.25207	.	.	.	.	.	T	0.54415	0.1857	.	.	.	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	0.81914	0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995	T	0.54735	-0.8249	8	0.48119	T	0.1	.	9.3072	0.37883	0.0:0.0:1.0:0.0	.	490;409;466;480;496;461;476;495;471;354;401;457;490	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	C	490;490;525;409;466;496;461;457;480;495;476;354;471;490	ENSP00000389857:G490C;ENSP00000252034:G490C;ENSP00000351807:G525C;ENSP00000315607:G409C;ENSP00000392575:G466C;ENSP00000369936:G496C;ENSP00000369949:G461C;ENSP00000369958:G457C;ENSP00000403162:G480C;ENSP00000349540:G495C;ENSP00000391129:G476C;ENSP00000369926:G354C;ENSP00000369950:G471C;ENSP00000313565:G490C	ENSP00000252034:G490C	G	+	1	0	ELN	73112205	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	2.592000	0.46171	1.041000	0.40125	0.555000	0.69702	GGT		0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		8	283	8	283	---	---	---	---	T	73474269	G	T	73474269	3	4	73	1	0	0	0	0	1	0	0	0	5071	1116	39	1	1573	1	ELN	7	73474269	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	28862019	73474269	85664394	192	3741										
GTF2I	2969	broad.mit.edu	37	chr7	74105415	74105415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttttgtcaataccagaaaGgattttcaaaaagattttgt	7	5	2	2	rs146598910	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.chr7:74105415G>T	ENST00000324896.4	+	3	599	c.210G>T	c.(208-210)aaG>aaT	p.K70N	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	70					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAGAAAGGATTTTCAAA	0.348																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(208-210)aaG>aaT		general transcription factor IIi							86	86	86					7																	74105415		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74105415G>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.210G>T	7.37:g.74105415G>T	ENSP00000322542:p.Lys70Asn		Somatic				GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	p.K70N	NM_032999.2	NP_127492.1	WXS	Illumina GAIIx	Phase_I	P78347	GTF2I_HUMAN			3	599	+			70					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.210G>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334570	0.24253	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.52983	1.2;1.2;1.21;1.21;0.64	4.54	-0.202	0.13208	.	0.000000	0.64402	D	0.000004	T	0.57315	0.2045	L	0.60455	1.87	0.44976	D	0.997994	D;D;D;D;D;P	0.76494	0.999;0.983;0.99;0.999;0.993;0.565	D;P;D;D;D;B	0.80764	0.986;0.846;0.962;0.994;0.958;0.28	T	0.55566	-0.8121	10	0.72032	D	0.01	-15.6131	7.6207	0.28183	0.6007:0.0:0.3993:0.0	.	70;70;70;70;70;70	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	N	70;65;70;70;70;70;70	ENSP00000322542:K70N;ENSP00000322671:K70N;ENSP00000322599:K70N;ENSP00000387651:K70N;ENSP00000404240:K70N	ENSP00000322542:K70N	K	+	3	2	GTF2I	73743351	1.000000	0.71417	0.997000	0.53966	0.197000	0.23852	0.661000	0.25023	0.046000	0.15833	-0.262000	0.10625	AAG		0.348	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	97	7	97	---	---	---	---	T	74105415	G	T	74105415	3	4	73	1	0	0	0	0	1	0	0	0	6867	991	35	1	216	1	GTF2I	7	74105415	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	631146	74105415	85033248	193	3742										
HIP1	3092	broad.mit.edu	37	chr7	75168701	75168701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctttttccgaagctctccCagtttttgacgctccttctg	7	13	2	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.chr7:75168701C>A	ENST00000336926.6	-	30	3029	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	HIP1_ENST00000434438.2_Silent_p.L950L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1001	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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						GAAGCTCTCCCAGTTTTTGAC	0.488			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.(3001-3003)ctG>ctT		huntingtin interacting protein 1							278	272	274					7																	75168701		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:75168701C>A	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.3003G>T	7.37:g.75168701C>A			Somatic				HIP1_ENST00000434438.2_Silent_p.L950L	p.L1001L	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			30	3029	-			1001			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.3003G>T	CCDS34669.1																																																																																				0.488	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		7	373	7	373	---	---	---	---	A	75168701	C	A	75168701	2	1	73	1	0	0	0	0	0	0	0	1	7114	581	21	1		1	HIP1	7	75168701	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1063286	75168701	83969962	194	3743										
TRRAP	8295	broad.mit.edu	37	chr7	98569472	98569472	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggatcagaccagcacgccCaaaaccaaagaactttcaga	9	12	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.chr7:98569472C>A	ENST00000359863.4	+	52	7931	c.7722C>A	c.(7720-7722)ccC>ccA	p.P2574P	TRRAP_ENST00000446306.3_Silent_p.P2556P|TRRAP_ENST00000355540.3_Silent_p.P2556P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2574					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)	p.P2574P(1)|p.P2556P(1)		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)			CCAGCACGCCCAAAACCAAAG	0.463																																						ENST00000359863.4																			2	Substitution - coding silent(2)	p.P2574P(1)|p.P2556P(1)	lung(2)	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.(7720-7722)ccC>ccA		transformation/transcription domain-associated protein							193	188	190					7																	98569472		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.chr7:98569472C>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.7722C>A	7.37:g.98569472C>A			Somatic				TRRAP_ENST00000355540.3_Silent_p.P2556P|TRRAP_ENST00000446306.3_Silent_p.P2556P	p.P2574P	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		52	7931	+	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)		2574					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7722C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226788	0.22542	.	.	ENSG00000196367	ENST00000456197	T	0.44083	0.93	5.95	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07271	-1.0781	7	0.23302	T	0.38	.	8.4293	0.32748	0.0:0.6704:0.1171:0.2125	.	.	.	.	Q	2296	ENSP00000394645:P2296Q	ENSP00000394645:P2296Q	P	+	2	0	TRRAP	98407408	0.621000	0.27077	1.000000	0.80357	0.959000	0.62525	-0.147000	0.10234	0.855000	0.35359	0.655000	0.94253	CCA		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	287	9	287	---	---	---	---	A	98569472	C	A	98569472	2	1	73	1	0	0	0	0	0	0	0	1	16598	581	21	1		1	TRRAP	7	98569472	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	23400771	98569472	60569191	195	3744										
TAF6	6878	broad.mit.edu	37	chr7	99706102	99706102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagggacccgaattctgccCgataggcgtcctgattgtca	11	12	2	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.chr7:99706102C>A	ENST00000344095.4	-	13	1871	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	449					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)					GAATTCTGCCCGATAGGCGTC	0.612																																						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.(1345-1347)cGg>cTg		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							62	71	68					7																	99706102		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.chr7:99706102C>A		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.1346G>T	7.37:g.99706102C>A	ENSP00000344537:p.Arg449Leu		Somatic				AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	p.R449L	NM_005641.3	NP_005632.1	WXS	Illumina GAIIx	Phase_I	P49848	TAF6_HUMAN			13	1871	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1346G>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365594	0.61513	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.45668	0.91;0.89;0.91;0.91;0.89	5.69	4.81	0.61882	.	0.190294	0.45606	D	0.000348	T	0.29491	0.0735	L	0.36672	1.1	0.42114	D	0.991394	P;P;P;P;P	0.46220	0.874;0.677;0.548;0.548;0.548	B;B;B;B;B	0.34489	0.089;0.184;0.089;0.089;0.089	T	0.10428	-1.0630	10	0.45353	T	0.12	-15.8284	12.3336	0.55054	0.0:0.9178:0.0:0.0821	.	486;449;439;449;373	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	L	449;506;449;449;373;486	ENSP00000389575:R449L;ENSP00000419760:R506L;ENSP00000416396:R449L;ENSP00000344537:R449L;ENSP00000399982:R486L	ENSP00000344537:R449L	R	-	2	0	TAF6	99544038	0.928000	0.31464	0.990000	0.47175	0.845000	0.48019	1.534000	0.36051	1.399000	0.46721	0.491000	0.48974	CGG		0.612	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		5	143	5	143	---	---	---	---	A	99706102	C	A	99706102	3	1	73	1	0	0	0	0	1	0	0	0	15527	652	23	1	699	1	TAF6	7	99706102	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1136630	99706102	59432561	196	3745										
GIGYF1	64599	broad.mit.edu	37	chr7	100281209	100281209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttgttctagaattggaccCtgagtcgaagagttaattgg	12	5	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.chr7:100281209C>A	ENST00000275732.5	-	17	3225	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	672					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)					GAATTGGACCCTGAGTCGAAG	0.607																																						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.(2014-2016)caG>caT		GRB10 interacting GYF protein 1							162	158	160					7																	100281209		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281209C>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.2016G>T	7.37:g.100281209C>A	ENSP00000275732:p.Gln672His		Somatic					p.Q672H	NM_022574.4	NP_072096.2	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			17	3225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		672					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2016G>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.190223	0.78789	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.85088	-1.94	4.05	4.05	0.47172	.	0.189391	0.35407	N	0.003236	D	0.90256	0.6953	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.90892	0.4762	10	0.59425	D	0.04	-19.4225	13.7737	0.63039	0.0:1.0:0.0:0.0	.	672	O75420	PERQ1_HUMAN	H	391;672	ENSP00000275732:Q672H	ENSP00000275732:Q672H	Q	-	3	2	GIGYF1	100119145	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.168000	0.77570	2.090000	0.63153	0.313000	0.20887	CAG		0.607	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	192	7	192	---	---	---	---	A	100281209	C	A	100281209	3	1	73	1	0	0	0	0	1	0	0	0	6377	680	24	1	1123	1	GIGYF1	7	100281209	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	575107	100281209	58857454	197	3746										
CUX1	1523	broad.mit.edu	37	chr7	101559501	101559501	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagttcaagaagaacactcCagaggtgaggcgcgtgacca	14	9	1	5			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.chr7:101559501C>A	ENST00000292535.7	+	2	175	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000360264.3_Missense_Mutation_p.P57Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	46					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						AAGAACACTCCAGAGGTGAGG	0.537																																						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.(169-171)cCa>cAa		cut-like homeobox 1							107	97	100					7																	101559501		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.chr7:101559501C>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.137C>A	7.37:g.101559501C>A	ENSP00000292535:p.Pro46Gln		Somatic				CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P46Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q	p.P57Q	NM_001202543.1	NP_001189472.1	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			2	190	+			46					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.170C>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083588	0.94050	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.40476	1.43;1.03;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000005	T	0.60637	0.2284	L	0.49778	1.585	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;0.993;1.0;0.949;1.0	D;D;P;D;B;D	0.91635	0.998;0.997;0.843;0.999;0.269;0.999	T	0.61574	-0.7035	10	0.66056	D	0.02	-14.4775	17.5093	0.87755	0.0:1.0:0.0:0.0	.	46;57;57;57;57;57	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	Q	57;57;57;57;57;57;46;46;46;46;46	ENSP00000292538:P57Q;ENSP00000449371:P57Q;ENSP00000353401:P57Q;ENSP00000409745:P57Q;ENSP00000414091:P57Q;ENSP00000292535:P46Q;ENSP00000446630:P46Q;ENSP00000447373:P46Q;ENSP00000450125:P46Q;ENSP00000451558:P46Q	ENSP00000292535:P46Q	P	+	2	0	CUX1	101346221	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.061000	0.76699	2.570000	0.86706	0.655000	0.94253	CCA		0.537	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	77	5	77	---	---	---	---	A	101559501	C	A	101559501	3	1	73	1	0	0	0	0	1	0	0	0	4064	594	21	1	210	1	CUX1	7	101559501	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1278292	101559501	57579162	198	3747										
CBLL1	79872	broad.mit.edu	37	chr7	107399369	107399369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcctcctccaggacctcccCcacctcaacatggtggtcca	6	19	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.chr7:107399369C>A	ENST00000440859.3	+	6	1689	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	408	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGACCTCCCCCACCTCAACA	0.517																																						ENST00000440859.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1222-1224)Cca>Aca		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							195	186	189					7																	107399369		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399369C>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1222C>A	7.37:g.107399369C>A	ENSP00000401277:p.Pro408Thr		Somatic				CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	p.P408T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	WXS	Illumina GAIIx	Phase_I	Q75N03	HAKAI_HUMAN			6	1689	+						Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1222C>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443264	0.43429	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.35048	1.33;1.33	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.47716	1.5	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.61003	0.882;0.882	T	0.29274	-1.0017	10	0.15952	T	0.53	-1.137	18.2641	0.90046	0.0:1.0:0.0:0.0	.	407;408	B7ZM03;Q75N03	.;HAKAI_HUMAN	T	408;287;407	ENSP00000401277:P408T;ENSP00000222597:P407T	ENSP00000222597:P407T	P	+	1	0	CBLL1	107186605	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.218000	0.77991	2.324000	0.78689	0.289000	0.19496	CCA		0.517	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		7	185	7	185	---	---	---	---	A	107399369	C	A	107399369	3	1	73	1	0	0	0	0	1	0	0	0	2703	623	22	1	1244	1	CBLL1	7	107399369	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5839868	107399369	51739294	199	3748										
MET	4233	broad.mit.edu	37	chr7	116339270	116339270	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatatgaagtatcagcttccCaacttcaccgcggaaacacc	6	13	2	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.chr7:116339270C>A	ENST00000318493.6	+	2	319	c.132C>A	c.(130-132)ccC>ccA	p.P44P	MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000397752.3_Silent_p.P44P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				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)			ATCAGCTTCCCAACTTCACCG	0.448			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.(130-132)ccC>ccA		met proto-oncogene							99	98	98					7																	116339270		1972	4159	6131	SO:0001819	synonymous_variant	4233	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.chr7:116339270C>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.132C>A	7.37:g.116339270C>A			Somatic				MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000318493.6_Silent_p.P44P	p.P44P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	WXS	Illumina GAIIx	Phase_I	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	332	+	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)	44			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.132C>A	CCDS47689.1																																																																																				0.448	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			6	102	6	102	---	---	---	---	A	116339270	C	A	116339270	2	1	73	1	0	0	0	0	0	0	0	1	9485	581	21	1		1	MET	7	116339270	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8939901	116339270	42799393	200	3749										
ARF5	381	broad.mit.edu	37	chr7	127231036	127231036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgcaggaggacgagctgcGggatgcagtgctgctggtat	18	8	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.chr7:127231036G>T	ENST00000000233.5	+	5	504	c.350G>T	c.(349-351)cGg>cTg	p.R117L	FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	117					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GACGAGCTGCGGGATGCAGTG	0.582																																						ENST00000000233.5																			0				cervix(2)|kidney(1)|lung(10)|ovary(1)	14						c.(349-351)cGg>cTg		ADP-ribosylation factor 5							102	100	101					7																	127231036		2203	4300	6503	SO:0001583	missense	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231036G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.350G>T	7.37:g.127231036G>T	ENSP00000000233:p.Arg117Leu		Somatic				GCC1_ENST00000497650.1_Intron	p.R117L	NM_001662.3	NP_001653.1	WXS	Illumina GAIIx	Phase_I	P84085	ARF5_HUMAN			5	504	+			117					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.350G>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453163	0.63290	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	T;T	0.64991	-0.13;-0.13	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.133648	0.48286	D	0.000194	T	0.69196	0.3084	M	0.87617	2.895	0.46701	D	0.999162	P	0.39831	0.69	B	0.38985	0.287	T	0.77256	-0.2655	10	0.87932	D	0	-18.4106	15.8254	0.78703	0.0:0.0:1.0:0.0	.	117	P84085	ARF5_HUMAN	L	117;115	ENSP00000000233:R117L;ENSP00000412701:R115L	ENSP00000000233:R117L	R	+	2	0	ARF5	127018272	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.417000	0.59822	2.316000	0.78162	0.561000	0.74099	CGG		0.582	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		6	147	6	147	---	---	---	---	T	127231036	G	T	127231036	3	4	73	1	0	0	0	0	1	0	0	0	847	1116	39	1	368	1	ARF5	7	127231036	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	10891766	127231036	31907627	201	3750										
FLNC	2318	broad.mit.edu	37	chr7	128481390	128481390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcattgcccacatcctgccCgccccacctgactgcttccc	5	21	1	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.chr7:128481390C>A	ENST00000325888.8	+	12	2241	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P	FLNC_ENST00000346177.6_Silent_p.P660P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	660					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						ACATCCTGCCCGCCCCACCTG	0.632																																						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.(1978-1980)ccC>ccA		filamin C, gamma							160	172	168					7																	128481390		2129	4231	6360	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481390C>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.1980C>A	7.37:g.128481390C>A			Somatic				FLNC_ENST00000346177.6_Silent_p.P660P	p.P660P	NM_001458.4	NP_001449.3	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			12	2241	+			660					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1980C>A	CCDS43644.1																																																																																				0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	198	6	198	---	---	---	---	A	128481390	C	A	128481390	2	1	73	1	0	0	0	0	0	0	0	1	5935	639	23	1		1	FLNC	7	128481390	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1250354	128481390	30657273	202	3751										
BRAF	673	broad.mit.edu	37	chr7	140550013	140550013	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttgtttgatattccacacCtaaaaaatatttcaaaagaa	3	6	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.chr7:140550013C>A	ENST00000288602.6	-	2	199		c.e2-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase						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)	TATTCCACACCTAAAAAATAT	0.313		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.e2-1		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						83	89	87					7																	140550013		2203	4298	6501	SO:0001630	splice_region_variant	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.chr7:140550013C>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.139-1G>T	7.37:g.140550013C>A			Somatic						NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			2	199	-	Melanoma(164;0.00956)							A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	SNP	ENST00000288602.6	37		CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100702	0.76983	.	.	ENSG00000157764	ENST00000288602	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9487	0.71054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAF	140196482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.205000	0.77881	2.268000	0.75426	0.555000	0.69702	.		0.313	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Intron	6	167	6	167	---	---	---	---	A	140550013	C	A	140550013	5	1	73	1	0	0	0	0	0	0	1	0	1496	695	24	1	2230	1	BRAF	7	140550013	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	12068623	140550013	18588650	203	3752										
OR2A5	393046	broad.mit.edu	37	chr7	143748279	143748279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattgtcatgtacatggcccCcaagtcccgccaccctgagg	9	16	1	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.chr7:143748279C>A	ENST00000408906.2	+	1	819	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	262						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)					TACATGGCCCCCAAGTCCCGC	0.572																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(784-786)cCc>cAc		olfactory receptor, family 2, subfamily A, member 5							95	94	94					7																	143748279		1998	4184	6182	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748279C>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.785C>A	7.37:g.143748279C>A	ENSP00000386208:p.Pro262His		Somatic					p.P262H	NM_012365.1	NP_036497.1	WXS	Illumina GAIIx	Phase_I	Q96R48	OR2A5_HUMAN			1	819	+	Melanoma(164;0.0783)		262					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.785C>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383468	0.61845	.	.	ENSG00000221836	ENST00000408906	T	0.00272	8.36	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31872	U	0.006935	T	0.00967	0.0032	M	0.91872	3.25	0.31639	N	0.648114	D	0.89917	1.0	D	0.91635	0.999	T	0.13926	-1.0491	10	0.87932	D	0	.	16.6572	0.85231	0.0:1.0:0.0:0.0	.	262	Q96R48	OR2A5_HUMAN	H	262	ENSP00000386208:P262H	ENSP00000386208:P262H	P	+	2	0	OR2A5	143379212	0.137000	0.22531	1.000000	0.80357	0.974000	0.67602	1.318000	0.33643	2.797000	0.96272	0.650000	0.86243	CCC		0.572	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			6	135	6	135	---	---	---	---	A	143748279	C	A	143748279	3	1	73	1	0	0	0	0	1	0	0	0	10981	623	22	1	787	1	OR2A5	7	143748279	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3198266	143748279	15390384	204	3753										
GBX1	2636	broad.mit.edu	37	chr7	150846192	150846192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtctcctgctgatgcctcCagcttctcctcatctgagct	9	15	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.chr7:150846192C>A	ENST00000297537.4	-	2	575	c.576G>T	c.(574-576)ctG>ctT	p.L192L	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	192					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)		CTGATGCCTCCAGCTTCTCCT	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(574-576)ctG>ctT		gastrulation brain homeobox 1							201	216	211					7																	150846192		2097	4230	6327	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846192C>A	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.576G>T	7.37:g.150846192C>A			Somatic					p.L192L	NM_001098834.1	NP_001092304.1	WXS	Illumina GAIIx	Phase_I	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	575	-			192						Silent	SNP	ENST00000297537.4	37	c.576G>T	CCDS43682.1																																																																																				0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			7	386	7	386	---	---	---	---	A	150846192	C	A	150846192	2	1	73	1	0	0	0	0	0	0	0	1	6280	581	21	1		1	GBX1	7	150846192	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7097913	150846192	8292471	205	3754										
VIPR2	7434	broad.mit.edu	37	chr7	158851252	158851252	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgtataaatggccttcacCagaatataaaacgtgatcta	7	7	2	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.chr7:158851252C>A	ENST00000262178.2	-	5	560	c.375G>T	c.(373-375)ctG>ctT	p.L125L	VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	125					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TGGCCTTCACCAGAATATAAA	0.443																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(373-375)ctG>ctT		vasoactive intestinal peptide receptor 2							137	127	131					7																	158851252		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851252C>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.375G>T	7.37:g.158851252C>A			Somatic				VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	p.L125L	NM_003382.4	NP_003373.2	WXS	Illumina GAIIx	Phase_I	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	560	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	125					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.375G>T	CCDS5950.1																																																																																				0.443	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		5	138	5	138	---	---	---	---	A	158851252	C	A	158851252	2	1	73	1	0	0	0	0	0	0	0	1	17167	581	21	1		1	VIPR2	7	158851252	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8005060	158851252	287411	206	3755										
DLGAP2	9228	broad.mit.edu	37	chr8	1497602	1497602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccgtggcccactgctaccCcgacgcgctgcagagcccct	10	21	0	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.chr8:1497602C>A	ENST00000421627.2	+	2	877	c.743C>A	c.(742-744)cCc>cAc	p.P248H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	327					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)		CACTGCTACCCCGACGCGCTG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(742-744)cCc>cAc		discs, large (Drosophila) homolog-associated protein 2							58	67	64					8																	1497602		2107	4242	6349	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497602C>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.743C>A	8.37:g.1497602C>A	ENSP00000400258:p.Pro248His		Somatic					p.P248H	NM_004745.3	NP_004736.2	WXS	Illumina GAIIx	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	877	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	327					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.743C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.993279|2.993279	0.54041|0.54041	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|T	0.18960|0.17213	2.18|2.29	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.148955|0.148955	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.31606|0.31606	0.0802|0.0802	L|L	0.55017|0.55017	1.72|1.72	0.41722|0.41722	D|D	0.989519|0.989519	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70935|.	0.971;0.959|.	T|T	0.00942|0.00942	-1.1506|-1.1506	10|8	0.28530|0.27082	T|T	0.3|0.32	-14.2703|-14.2703	18.9482|18.9482	0.92630|0.92630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	327;327|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	H|T	293;248|265	ENSP00000400258:P248H|ENSP00000430563:P265T	ENSP00000348366:P293H|ENSP00000430563:P265T	P|P	+|+	2|1	0|0	DLGAP2|DLGAP2	1485009|1485009	1.000000|1.000000	0.71417|0.71417	0.904000|0.904000	0.35570|0.35570	0.232000|0.232000	0.25224|0.25224	5.351000|5.351000	0.66022|0.66022	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		7	149	7	149	---	---	---	---	A	1497602	C	A	1497602	3	1	73	1	0	0	0	0	1	0	0	0	4560	623	22	1	745	1	DLGAP2	8	1497602	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		1497602	144866420	207	3756										
CHRNA2	1135	broad.mit.edu	37	chr8	27327369	27327369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgcccagcggttgtagcccCggaagaggtgtttgaagagc	16	10	0	3	rs548268816		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.chr8:27327369C>A	ENST00000520933.2	-	2	356	c.203G>T	c.(202-204)cGg>cTg	p.R68L	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R68L			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	68					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)	p.R68Q(1)		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)	GTTGTAGCCCCGGAAGAGGTG	0.632													C|||	1	0.000199681	0	0.0014	5008	,	,		16341	0		0	False		,,,				2504	0					ENST00000407991.1																			1	Substitution - Missense(1)	p.R68Q(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(202-204)cGg>cTg		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)						87	86	86					8																	27327369		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327369C>A	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.203G>T	8.37:g.27327369C>A	ENSP00000429616:p.Arg68Leu		Somatic				CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.R68L	p.R68L	NM_000742.3	NP_000733.2	WXS	Illumina GAIIx	Phase_I	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	811	-		Ovarian(32;2.61e-05)	68					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.203G>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460144	0.43736	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.77	3.89	0.44902	Neurotransmitter-gated ion-channel ligand-binding (3);	0.410909	0.25143	N	0.032809	T	0.55194	0.1905	L	0.52364	1.645	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.30179	0.112;0.112	T	0.53982	-0.8361	10	0.66056	D	0.02	.	6.9775	0.24683	0.0:0.7318:0.1747:0.0935	.	68;68	B4DK19;Q15822	.;ACHA2_HUMAN	L	68	ENSP00000385026:R68L;ENSP00000429616:R68L;ENSP00000240132:R68L;ENSP00000430422:R68L;ENSP00000430856:R68L	ENSP00000240132:R68L	R	-	2	0	CHRNA2	27383286	0.000000	0.05858	0.789000	0.31954	0.875000	0.50365	0.006000	0.13152	1.380000	0.46344	0.561000	0.74099	CGG		0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			5	107	5	107	---	---	---	---	A	27327369	C	A	27327369	3	1	73	1	0	0	0	0	1	0	0	0	3383	652	23	1	1406	1	CHRNA2	8	27327369	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	25829767	27327369	119036653	208	3757										
CHD7	55636	broad.mit.edu	37	chr8	61765453	61765453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcctctcgaactctgtacCgcattgagctgctacggaag	11	12	2	1	rs192260844		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.chr8:61765453C>A	ENST00000423902.2	+	31	6648	c.6169C>A	c.(6169-6171)Cgc>Agc	p.R2057S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2057					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)			AACTCTGTACCGCATTGAGCT	0.562																																						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.(6169-6171)Cgc>Agc		chromodomain helicase DNA binding protein 7							116	119	118					8																	61765453		1944	4154	6098	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.chr8:61765453C>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.6169C>A	8.37:g.61765453C>A	ENSP00000392028:p.Arg2057Ser		Somatic				CHD7_ENST00000524602.1_Intron	p.R2057S	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6648	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2057					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6169C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127115	0.94429	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.83163	-1.69	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92212	0.5777	10	0.87932	D	0	-12.4264	19.215	0.93772	0.0:1.0:0.0:0.0	.	2057	Q9P2D1	CHD7_HUMAN	S	2057	ENSP00000392028:R2057S	ENSP00000307304:R2057S	R	+	1	0	CHD7	61928007	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.062000	0.71155	2.539000	0.85634	0.655000	0.94253	CGC		0.562	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	180	5	180	---	---	---	---	A	61765453	C	A	61765453	3	1	73	1	0	0	0	0	1	0	0	0	3330	652	23	1	6287	1	CHD7	8	61765453	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	34438084	61765453	84598569	209	3758										
C8orf45	157777	broad.mit.edu	37	chr8	67809086	67809086	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactgcaacgagtcatctccCtgccacccatttcttcctac	4	17	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.chr8:67809086C>A	ENST00000422365.2	+	12	1689	c.1518C>A	c.(1516-1518)ccC>ccA	p.P506P	MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P|MCMDC2_ENST00000313616.5_Silent_p.P506P	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	506					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						AGTCATCTCCCTGCCACCCAT	0.423																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1516-1518)ccC>ccA		minichromosome maintenance domain containing 2							192	185	187					8																	67809086		2203	4300	6503	SO:0001819	synonymous_variant	157777				DNA replication		ATP binding|DNA binding	g.chr8:67809086C>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.1518C>A	8.37:g.67809086C>A			Somatic				MCMDC2_ENST00000313616.5_Silent_p.P506P|MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P	p.P506P	NM_173518.4	NP_775789.3	WXS	Illumina GAIIx	Phase_I	Q4G0Z9	CH045_HUMAN			12	1689	+			506					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	ENST00000422365.2	37	c.1518C>A	CCDS6197.2																																																																																				0.423	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		7	236	7	236	---	---	---	---	A	67809086	C	A	67809086	2	1	73	1	0	0	0	0	0	0	0	1	2430	668	24	1		1	C8orf45	8	67809086	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6043633	67809086	78554936	210	3759										
SLCO5A1	81796	broad.mit.edu	37	chr8	70744881	70744881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccagctgctctcccgcccCgggctgcagtccagtgcctt	10	19	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.chr8:70744881C>A	ENST00000260126.4	-	2	734	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	10						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)			TCTCCCGCCCCGGGCTGCAGT	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.4																			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.(28-30)Ggg>Tgg		solute carrier organic anion transporter family, member 5A1																																				SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744881C>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.28G>T	8.37:g.70744881C>A	ENSP00000260126:p.Gly10Trp		Somatic	OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W	p.G10W	NM_030958.2	NP_112220.2	WXS	Illumina GAIIx	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	734	-	Breast(64;0.0654)							A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.28G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984504	0.18889	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40225	1.16;1.53;1.04	4.78	2.96	0.34315	.	1.908090	0.02825	N	0.125969	T	0.35393	0.0930	N	0.08118	0	0.09310	N	1	P;P;P;D	0.55605	0.953;0.953;0.953;0.972	B;B;B;P	0.47470	0.346;0.337;0.337;0.548	T	0.47598	-0.9105	10	0.66056	D	0.02	.	11.3347	0.49496	0.0:0.3738:0.6262:0.0	.	10;10;10;10	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	W	10	ENSP00000260126:G10W;ENSP00000434422:G10W;ENSP00000431611:G10W	ENSP00000260126:G10W	G	-	1	0	SLCO5A1	70907435	0.005000	0.15991	0.773000	0.31616	0.124000	0.20399	0.067000	0.14510	0.613000	0.30089	-0.494000	0.04653	GGG		0.617	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		4	98	4	98	---	---	---	---	A	70744881	C	A	70744881	3	1	73	1	0	0	0	0	1	0	0	0	14731	652	23	1	2554	1	SLCO5A1	8	70744881	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2935795	70744881	75619141	211	3760										
ZFHX4	79776	broad.mit.edu	37	chr8	77616633	77616633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaccactgccctaatgccCgccttcctgtcctgaaggat	7	16	0	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.chr8:77616633C>A	ENST00000521891.2	+	2	758	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	104					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.R104S(1)		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)			CCCTAATGCCCGCCTTCCTGT	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.R104S(1)	lung(1)	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.(310-312)Cgc>Agc		zinc finger homeobox 4							178	172	174					8																	77616633		2034	4174	6208	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616633C>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.310C>A	8.37:g.77616633C>A	ENSP00000430497:p.Arg104Ser	HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S	p.R104S	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	758	+			104					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.310C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084448	0.55861	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.43	5.43	0.79202	.	0.000000	0.45361	U	0.000364	T	0.44222	0.1283	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.959	D;D;D;P	0.80764	0.987;0.994;0.994;0.668	T	0.28839	-1.0031	10	0.72032	D	0.01	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	104;104;104;104	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	104	ENSP00000430497:R104S;ENSP00000399605:R104S;ENSP00000050961:R104S;ENSP00000428525:R104S;ENSP00000427775:R104S;ENSP00000427739:R104S;ENSP00000430848:R104S	ENSP00000050961:R104S	R	+	1	0	ZFHX4	77779188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CGC		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	229	5	229	---	---	---	---	A	77616633	C	A	77616633	3	1	73	1	0	0	0	0	1	0	0	0	17632	652	23	1	312	1	ZFHX4	8	77616633	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6871752	77616633	68747389	212	3761										
ZNF704	619279	broad.mit.edu	37	chr8	81733633	81733633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggaggaacatcaatgttgGaggaaacaacttttcttttt	9	6	2	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.chr8:81733633G>T	ENST00000327835.3	-	2	428	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	66							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATCAATGTTGGAGGAAACAAC	0.448																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(196-198)tCc>tAc		zinc finger protein 704							293	269	277					8																	81733633		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81733633G>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.197C>A	8.37:g.81733633G>T	ENSP00000331462:p.Ser66Tyr		Somatic					p.S66Y	NM_001033723.2	NP_001028895.1	WXS	Illumina GAIIx	Phase_I	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	428	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		66					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.197C>A	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058435	0.76074	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	T;T	0.30981	1.51;1.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.61703	1.905	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	T	0.51996	-0.8634	10	0.59425	D	0.04	-23.7802	18.4528	0.90710	0.0:0.0:1.0:0.0	.	66	Q6ZNC4	ZN704_HUMAN	Y	66	ENSP00000331462:S66Y;ENSP00000427715:S66Y	ENSP00000331462:S66Y	S	-	2	0	ZNF704	81896188	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.394000	0.73223	2.793000	0.96121	0.563000	0.77884	TCC		0.448	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	270	9	270	---	---	---	---	T	81733633	G	T	81733633	3	4	73	1	0	0	0	0	1	0	0	0	18104	1174	41	3	1073	3	ZNF704	8	81733633	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	4117000	81733633	64630389	213	3762										
KIAA1429	25962	broad.mit.edu	37	chr8	95565623	95565623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagccttacctcagcgctcGggtgtttaaaagtatctaaa	8	10	2	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.chr8:95565623G>T	ENST00000297591.5	-	1	128	c.53C>A	c.(52-54)cCg>cAg	p.P18Q	KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|RP11-267M23.4_ENST00000523011.1_lincRNA	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	18					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P18Q(1)		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)			CTCAGCGCTCGGGTGTTTAAA	0.537																																						ENST00000297591.5																			1	Substitution - Missense(1)	p.P18Q(1)	lung(1)	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.(52-54)cCg>cAg		KIAA1429							105	118	113					8																	95565623		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95565623G>T	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.53C>A	8.37:g.95565623G>T	ENSP00000297591:p.Pro18Gln		Somatic				KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q	p.P18Q	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		1	128	-	Breast(36;3.29e-05)		18					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.53C>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195053	0.38806	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.40225	1.04;1.06;1.06	5.17	4.23	0.50019	.	0.254751	0.39834	N	0.001244	T	0.11580	0.0282	N	0.00436	-1.5	0.36120	D	0.84542	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.26744	-1.0094	10	0.08179	T	0.78	-8.0852	10.9922	0.47555	0.0:0.0:0.6641:0.3359	.	18;18	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Q	18	ENSP00000297591:P18Q;ENSP00000395600:P18Q;ENSP00000398390:P18Q	ENSP00000297591:P18Q	P	-	2	0	KIAA1429	95634799	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.929000	0.63455	2.560000	0.86352	0.650000	0.86243	CCG		0.537	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	189	6	189	---	---	---	---	T	95565623	G	T	95565623	3	4	73	1	0	0	0	0	1	0	0	0	8231	1116	39	1	5535	1	KIAA1429	8	95565623	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	13831990	95565623	50798399	214	3763										
PLEKHF2	79666	broad.mit.edu	37	chr8	96166912	96166912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctatgacctgctttctgctGgggacatggccacatgccag	12	12	1	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.chr8:96166912G>T	ENST00000315367.3	+	2	881	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	214					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGC	0.478																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(640-642)Ggg>Tgg		pleckstrin homology domain containing, family F (with FYVE domain) member 2							104	99	101					8																	96166912		2203	4300	6503	SO:0001583	missense	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166912G>T	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.640G>T	8.37:g.96166912G>T	ENSP00000322373:p.Gly214Trp		Somatic				PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	p.G214W	NM_024613.3	NP_078889.1	WXS	Illumina GAIIx	Phase_I	Q9H8W4	PKHF2_HUMAN			2	881	+	Breast(36;3.18e-05)		214						Missense_Mutation	SNP	ENST00000315367.3	37	c.640G>T	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974780	0.74360	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	D;D	0.81579	-1.51;-1.51	6.16	6.16	0.99307	.	0.047145	0.85682	D	0.000000	T	0.78761	0.4334	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	P	0.55923	0.787	T	0.82339	-0.0506	10	0.66056	D	0.02	-10.7899	20.8598	0.99761	0.0:0.0:1.0:0.0	.	214	Q9H8W4	PKHF2_HUMAN	W	214	ENSP00000322373:G214W;ENSP00000427792:G214W	ENSP00000322373:G214W	G	+	1	0	PLEKHF2	96236088	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.361000	0.97122	2.937000	0.99478	0.650000	0.86243	GGG		0.478	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		6	163	6	163	---	---	---	---	T	96166912	G	T	96166912	3	4	73	1	0	0	0	0	1	0	0	0	12067	1348	47	1	642	1	PLEKHF2	8	96166912	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	601289	96166912	50197110	215	3764										
ODF1	4956	broad.mit.edu	37	chr8	103564170	103564170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggcctgtgtgatctctaccCatgttgcctgtgtgattata	10	10	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.chr8:103564170C>A	ENST00000285402.3	+	1	371	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	72	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)			GATCTCTACCCATGTTGCCTG	0.483																																						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.(214-216)cCa>cAa		outer dense fiber of sperm tails 1							281	231	248					8																	103564170		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564170C>A	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.215C>A	8.37:g.103564170C>A	ENSP00000285402:p.Pro72Gln		Somatic					p.P72Q	NM_024410.3	NP_077721.2	WXS	Illumina GAIIx	Phase_I	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	371	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		72			2 X 5 AA repeats of [RC]-C-L-C-D.		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.215C>A	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698669	0.68501	.	.	ENSG00000155087	ENST00000285402	T	0.33654	1.4	5.83	5.83	0.93111	.	0.117810	0.39020	N	0.001496	T	0.40791	0.1131	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48043	-0.9069	10	0.54805	T	0.06	-14.0933	15.6153	0.76760	0.0:1.0:0.0:0.0	.	72	Q14990	ODFP1_HUMAN	Q	72	ENSP00000285402:P72Q	ENSP00000285402:P72Q	P	+	2	0	ODF1	103633346	0.874000	0.30092	0.914000	0.36105	0.720000	0.41350	3.754000	0.55189	2.750000	0.94351	0.655000	0.94253	CCA		0.483	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			7	194	7	194	---	---	---	---	A	103564170	C	A	103564170	3	1	73	1	0	0	0	0	1	0	0	0	10826	594	21	1	217	1	ODF1	8	103564170	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7397258	103564170	42799852	216	3765										
HAS2	3037	broad.mit.edu	37	chr8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgacttctctttttccaccCcatttttgcatgatgcagat	5	11	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.chr8:122641020C>A	ENST00000303924.4	-	2	1098	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	187					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)	p.W187*(1)|p.W187C(1)	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)			TTTTTCCACCCCATTTTTGCA	0.463																																						ENST00000303924.4																		HAS2/PLAG1(10)	2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.W187*(1)|p.W187C(1)	ovary(1)|lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(559-561)tgG>tgT		hyaluronan synthase 2							232	210	217					8																	122641020		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641020C>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.561G>T	8.37:g.122641020C>A	ENSP00000306991:p.Trp187Cys		Somatic					p.W187C	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1098	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		187					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.561G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113366	0.77210	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59364	0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77598	-0.2528	10	0.54805	T	0.06	-11.0399	20.5827	0.99408	0.0:1.0:0.0:0.0	.	187	Q92819	HAS2_HUMAN	C	187	ENSP00000306991:W187C	ENSP00000306991:W187C	W	-	3	0	HAS2	122710201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	TGG		0.463	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		9	279	9	279	---	---	---	---	A	122641020	C	A	122641020	3	1	73	1	0	0	0	0	1	0	0	0	6962	624	22	1	1109	1	HAS2	8	122641020	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	19076850	122641020	23723002	217	3766										
HAS2	3037	broad.mit.edu	37	chr8	122641109	122641109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtgactcatctgtctcacCgggacccttttcgtggaagt	10	11	3	1	rs199934029	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.chr8:122641109C>A	ENST00000303924.4	-	2	1009	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	158					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)	p.G158S(1)	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)			TCTGTCTCACCGGGACCCTTT	0.433																																						ENST00000303924.4																		HAS2/PLAG1(10)	1	Substitution - Missense(1)	p.G158S(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(472-474)Ggt>Tgt		hyaluronan synthase 2							330	294	306					8																	122641109		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641109C>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.472G>T	8.37:g.122641109C>A	ENSP00000306991:p.Gly158Cys		Somatic					p.G158C	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1009	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		158					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.472G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191040	0.58017	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.48201	0.82	5.87	5.87	0.94306	.	0.198213	0.53938	D	0.000041	T	0.52517	0.1739	L	0.46157	1.445	0.34768	D	0.733391	D	0.55172	0.97	P	0.52758	0.708	T	0.60697	-0.7212	10	0.39692	T	0.17	-15.7134	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	158	Q92819	HAS2_HUMAN	C	158	ENSP00000306991:G158C	ENSP00000306991:G158C	G	-	1	0	HAS2	122710290	0.925000	0.31364	0.932000	0.37286	0.711000	0.40976	3.910000	0.56371	2.941000	0.99782	0.655000	0.94253	GGT		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		6	320	6	320	---	---	---	---	A	122641109	C	A	122641109	3	1	73	1	0	0	0	0	1	0	0	0	6962	652	23	1	1198	1	HAS2	8	122641109	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	89	122641109	23722913	218	3767										
ANXA13	312	broad.mit.edu	37	chr8	124693518	124693518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagcagtttccggaagtcccCggaggtatctgagcgaacca	12	11	1	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.chr8:124693518C>A	ENST00000419625.1	-	11	985	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	ANXA13_ENST00000262219.6_Missense_Mutation_p.G346W	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	305					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.G346W(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)			CGGAAGTCCCCGGAGGTATCT	0.498																																						ENST00000262219.6																			1	Substitution - Missense(1)	p.G346W(1)	lung(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.(1036-1038)Ggg>Tgg		annexin A13							211	219	216					8																	124693518		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693518C>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.913G>T	8.37:g.124693518C>A	ENSP00000390809:p.Gly305Trp		Somatic				ANXA13_ENST00000419625.1_Missense_Mutation_p.G305W	p.G346W	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1103	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		305					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.1036G>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693829	0.48202	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.19394	2.15;2.15	5.71	5.71	0.89125	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	H	0.96333	3.805	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74041	-0.3792	10	0.87932	D	0	.	16.7595	0.85508	0.0:1.0:0.0:0.0	.	305;346	P27216;P27216-2	ANX13_HUMAN;.	W	346;305	ENSP00000262219:G346W;ENSP00000390809:G305W	ENSP00000262219:G346W	G	-	1	0	ANXA13	124762699	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	5.069000	0.64370	2.688000	0.91661	0.655000	0.94253	GGG		0.498	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		8	379	8	379	---	---	---	---	A	124693518	C	A	124693518	3	1	73	1	0	0	0	0	1	0	0	0	717	652	23	1	41	1	ANXA13	8	124693518	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2052409	124693518	21670504	219	3768										
FER1L6	654463	broad.mit.edu	37	chr8	125094647	125094647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaagatcgacctggagaacCgcttctacagcaaacaccga	8	14	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.chr8:125094647C>A	ENST00000522917.1	+	33	4545	c.4339C>A	c.(4339-4341)Cgc>Agc	p.R1447S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1447						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)			CCTGGAGAACCGCTTCTACAG	0.488																																						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.(4339-4341)Cgc>Agc		fer-1-like 6 (C. elegans)							189	201	197					8																	125094647		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125094647C>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.4339C>A	8.37:g.125094647C>A	ENSP00000428280:p.Arg1447Ser		Somatic				FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S|FER1L6-AS2_ENST00000520031.1_RNA	p.R1447S	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		33	4545	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1447						Missense_Mutation	SNP	ENST00000522917.1	37	c.4339C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296455	0.95574	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79940	-1.32;-1.32	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.92662	0.7668	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93493	0.6837	10	0.87932	D	0	-20.4626	20.27	0.98469	0.0:1.0:0.0:0.0	.	1447	Q2WGJ9	FR1L6_HUMAN	S	1447	ENSP00000428280:R1447S;ENSP00000381982:R1447S	ENSP00000381982:R1447S	R	+	1	0	FER1L6	125163828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.930000	0.70104	2.854000	0.98071	0.655000	0.94253	CGC		0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		5	237	5	237	---	---	---	---	A	125094647	C	A	125094647	3	1	73	1	0	0	0	0	1	0	0	0	5815	652	23	1	4465	1	FER1L6	8	125094647	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	401129	125094647	21269375	220	3769										
RNF139	83940	broad.mit.edu	37	chr8	125498995	125498995	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtcctgcattttatccatGgaatgacagaccctgtatta	7	10	0	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.chr8:125498995G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Nonsense_Mutation_p.G369*	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)			TTTTATCCATGGAATGACAGA	0.413																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1105-1107)Gga>Tga		ring finger protein 139							325	316	319					8																	125498995		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.chr8:125498995G>T	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.125498995G>T			Somatic					p.G369*	NM_007218.3	NP_009149.2	WXS	Illumina GAIIx	Phase_I	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1477	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		369					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.1105G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	38	7.147384	0.98096	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.1645	19.2104	0.93751	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000304051:G369X	G	+	1	0	RNF139	125568176	1.000000	0.71417	0.969000	0.41365	0.943000	0.58893	9.071000	0.93980	2.590000	0.87494	0.655000	0.94253	GGA		0.413	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		7	389	7	389	---	---	---	---	T	125498995	G	T	125498995	1	4	73	0	1	0	0	0	0	0	0	0	13442	1349	47	1		1	RNF139	8	125498995	IGR	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	404348	125498995	20865027	221	3770										
TG	7038	broad.mit.edu	37	chr8	133909917	133909917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagcttctatcagagacgcCgcttttccccggacgactcg	9	14	2	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.chr8:133909917C>A	ENST00000220616.4	+	12	3065	c.3025C>A	c.(3025-3027)Cgc>Agc	p.R1009S	TG_ENST00000377869.1_Missense_Mutation_p.R1009S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1009	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)		TCAGAGACGCCGCTTTTCCCC	0.567																																						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.(3025-3027)Cgc>Agc		thyroglobulin							115	122	120					8																	133909917		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133909917C>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.3025C>A	8.37:g.133909917C>A	ENSP00000220616:p.Arg1009Ser		Somatic				TG_ENST00000377869.1_Missense_Mutation_p.R1009S	p.R1009S	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	12	3065	+	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)	1009			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3025C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891956	0.52014	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62788	-0.0;-0.0	5.59	-0.869	0.10649	Thyroglobulin type-1 (1);	1.644560	0.02987	N	0.146370	T	0.53286	0.1787	L	0.56769	1.78	0.09310	N	1	B	0.29936	0.262	B	0.23419	0.046	T	0.30149	-0.9988	10	0.42905	T	0.14	.	2.4875	0.04602	0.1997:0.3274:0.3385:0.1344	.	1009	P01266	THYG_HUMAN	S	1009	ENSP00000367100:R1009S;ENSP00000220616:R1009S	ENSP00000220616:R1009S	R	+	1	0	TG	133979099	0.000000	0.05858	0.002000	0.10522	0.613000	0.37349	-0.993000	0.03720	-0.001000	0.14495	0.655000	0.94253	CGC		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	227	5	227	---	---	---	---	A	133909917	C	A	133909917	3	1	73	1	0	0	0	0	1	0	0	0	15810	652	23	1	3071	1	TG	8	133909917	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8410922	133909917	12454105	222	3771										
EPPK1	83481	broad.mit.edu	37	chr8	144940861	144940861	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgtgattatggctgagctGaggagttcagaagctgtgat	14	6	1	5			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.chr8:144940861G>T	ENST00000525985.1	-	2	6632	c.6561C>A	c.(6559-6561)ctC>ctA	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						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)			TGGCTGAGCTGAGGAGTTCAG	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.(6559-6561)ctC>ctA		epiplakin 1							242	251	248					8																	144940861		2067	4209	6276	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940861G>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.6561C>A	8.37:g.144940861G>T			Somatic					p.L2187L			WXS	Illumina GAIIx	Phase_I	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	6632	-	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)		2187					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6561C>A																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	357	9	357	---	---	---	---	T	144940861	G	T	144940861	2	4	73	1	0	0	0	0	0	0	0	1	5190	1277	45	3		3	EPPK1	8	144940861	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11030944	144940861	1423161	223	3772										
EXOSC4	54512	broad.mit.edu	37	chr8	145134858	145134858	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttccagatccggggctccCgggctcgagccctgccggac	13	17	1	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.chr8:145134858C>A	ENST00000316052.5	+	2	287	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	EXOSC4_ENST00000525936.1_Silent_p.R62R|GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					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.R62R(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)			CCGGGGCTCCCGGGCTCGAGC	0.612																																						ENST00000316052.5																			1	Substitution - coding silent(1)	p.R62R(1)	lung(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7						c.(184-186)Cgg>Agg		exosome component 4							82	93	89					8																	145134858		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:145134858C>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.184C>A	8.37:g.145134858C>A			Somatic				EXOSC4_ENST00000525936.1_Silent_p.R62R	p.R62R	NM_019037.2	NP_061910.1	WXS	Illumina GAIIx	Phase_I	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)		2	287	+	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)		62						Silent	SNP	ENST00000316052.5	37	c.184C>A	CCDS6414.1																																																																																				0.612	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		6	216	6	216	---	---	---	---	A	145134858	C	A	145134858	2	1	73	1	0	0	0	0	0	0	0	1	5317	643	23	1		1	EXOSC4	8	145134858	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	193997	145134858	1229164	224	3773										
UBAP2	55833	broad.mit.edu	37	chr9	33986767	33986767	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctagcttacctctaccccGggctcgcttgccacgatctg	8	17	3	0	rs368580806		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.chr9:33986767G>T	ENST00000379238.1	-	6	628	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000360802.1_Silent_p.R171R					ubiquitin associated protein 2									p.R171R(1)		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)		CCTCTACCCCGGGCTCGCTTG	0.463																																						ENST00000379238.1																			1	Substitution - coding silent(1)	p.R171R(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(511-513)Cgg>Agg		ubiquitin associated protein 2							299	302	301					9																	33986767		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33986767G>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.511C>A	9.37:g.33986767G>T			Somatic				UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Silent_p.R171R|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR	p.R171R			WXS	Illumina GAIIx	Phase_I	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	6	628	-			171						Silent	SNP	ENST00000379238.1	37	c.511C>A	CCDS6547.1																																																																																				0.463	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		7	449	7	449	---	---	---	---	T	33986767	G	T	33986767	2	4	73	1	0	0	0	0	0	0	0	1	16834	1115	39	1		1	UBAP2	9	33986767	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		33986767	107226664	225	3774										
C9orf131	138724	broad.mit.edu	37	chr9	35043625	35043625	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaggacacaaaaagatgccCcaagcttttgagcctccgat	8	12	0	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.chr9:35043625C>A	ENST00000312292.5	+	2	1046	c.999C>A	c.(997-999)ccC>ccA	p.P333P	C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	333										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)			AAAAGATGCCCCAAGCTTTTG	0.542																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(997-999)ccC>ccA		chromosome 9 open reading frame 131							169	192	185					9																	35043625		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35043625C>A	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.999C>A	9.37:g.35043625C>A			Somatic				C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P	p.P333P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1046	+	all_epithelial(49;0.22)		333					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.999C>A	CCDS6572.2																																																																																				0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		10	362	10	362	---	---	---	---	A	35043625	C	A	35043625	2	1	73	1	0	0	0	0	0	0	0	1	2457	610	22	1		1	C9orf131	9	35043625	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1056858	35043625	106169806	226	3775										
C9orf131	138724	broad.mit.edu	37	chr9	35045210	35045210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagcctgtccagtcctccCactgtcatcacttccaatcc	4	19	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.chr9:35045210C>A	ENST00000312292.5	+	2	2631	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	862										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)			CCAGTCCTCCCACTGTCATCA	0.547																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2584-2586)Cac>Aac		chromosome 9 open reading frame 131							264	271	269					9																	35045210		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045210C>A	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.2584C>A	9.37:g.35045210C>A	ENSP00000308279:p.His862Asn		Somatic				C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N	p.H862N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2631	+	all_epithelial(49;0.22)		862					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2584C>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405350	0.42715	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.27104	1.71;1.69;1.74	3.97	3.07	0.35406	.	0.849899	0.10095	N	0.716687	T	0.40645	0.1125	M	0.68317	2.08	0.09310	N	1	D;D;D;D	0.62365	0.99;0.982;0.991;0.991	P;P;P;P	0.57324	0.818;0.682;0.8;0.8	T	0.13683	-1.0500	10	0.45353	T	0.12	-0.0129	7.5174	0.27608	0.0:0.8802:0.0:0.1198	.	337;862;789;814	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	N	814;789;862;337	ENSP00000393683:H814N;ENSP00000346472:H789N;ENSP00000308279:H862N	ENSP00000308279:H862N	H	+	1	0	C9orf131	35035210	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	0.712000	0.25779	1.023000	0.39654	0.563000	0.77884	CAC		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	388	8	388	---	---	---	---	A	35045210	C	A	35045210	3	1	73	1	0	0	0	0	1	0	0	0	2457	594	21	1	2606	1	C9orf131	9	35045210	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1585	35045210	106168221	227	3776										
FRMPD1	22844	broad.mit.edu	37	chr9	37746737	37746737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgccgtgttctgtttgaccCagaagttccgggcatccacg	11	14	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.chr9:37746737C>A	ENST00000539465.1	+	16	5301	c.4708C>A	c.(4708-4710)Cag>Aag	p.Q1570K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1570						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)		CTGTTTGACCCAGAAGTTCCG	0.622																																						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.(4708-4710)Cag>Aag		FERM and PDZ domain containing 1							68	75	73					9																	37746737		2202	4299	6501	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746737C>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.4708C>A	9.37:g.37746737C>A	ENSP00000444411:p.Gln1570Lys		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K|RP11-613M10.9_ENST00000540557.1_Intron	p.Q1570K			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5301	+			1570					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4708C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029256	0.75504	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.11821	2.74;2.74	5.71	5.71	0.89125	.	0.060743	0.64402	D	0.000002	T	0.19485	0.0468	M	0.61703	1.905	0.80722	D	1	P	0.39665	0.682	B	0.37650	0.255	T	0.00804	-1.1559	10	0.59425	D	0.04	-2.3163	17.3577	0.87341	0.0:1.0:0.0:0.0	.	1570	Q5SYB0	FRPD1_HUMAN	K	1570	ENSP00000366995:Q1570K;ENSP00000444411:Q1570K	ENSP00000366995:Q1570K	Q	+	1	0	FRMPD1	37736737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.970000	0.76099	2.704000	0.92352	0.655000	0.94253	CAG		0.622	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	147	6	147	---	---	---	---	A	37746737	C	A	37746737	3	1	73	1	0	0	0	0	1	0	0	0	6057	595	21	1	4766	1	FRMPD1	9	37746737	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2701527	37746737	103466694	228	3777										
TRPM3	80036	broad.mit.edu	37	chr9	73235187	73235187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagctcatggaaagggaagGggaagtggttgatctcagga	17	4	2	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.chr9:73235187G>T	ENST00000377111.2	-	15	2141	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H	TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H|TRPM3_ENST00000377110.3_Missense_Mutation_p.P633H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	658					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						GAAAGGGAAGGGGAAGTGGTT	0.522																																						ENST00000377110.3																			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.(1897-1899)cCc>cAc		transient receptor potential cation channel, subfamily M, member 3							241	205	217					9																	73235187		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73235187G>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.1898C>A	9.37:g.73235187G>T	ENSP00000366315:p.Pro633His		Somatic				TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P633H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H	p.P633H			WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			15	2141	-								A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1898C>A		.	.	.	.	.	.	.	.	.	.	G	16.46	3.129194	0.56721	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	N	0.24115	0.695	0.49915	D	0.999838	B;B;P;B;B;B;P;D	0.54047	0.434;0.159;0.589;0.431;0.431;0.335;0.611;0.964	B;B;B;B;B;B;B;P	0.56042	0.236;0.112;0.236;0.179;0.179;0.084;0.236;0.79	T	0.73139	-0.4077	10	0.49607	T	0.09	-15.0314	20.6439	0.99570	0.0:0.0:1.0:0.0	.	633;633;623;637;495;492;605;480	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	633;633;505;495;492;637;492;480;505;495;660	ENSP00000366315:P633H;ENSP00000366314:P633H;ENSP00000366310:P505H;ENSP00000354066:P495H;ENSP00000366309:P492H;ENSP00000350140:P637H;ENSP00000386127:P492H;ENSP00000379581:P480H;ENSP00000379587:P505H;ENSP00000350791:P495H;ENSP00000389542:P660H	ENSP00000350140:P637H	P	-	2	0	TRPM3	72425007	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.592000	0.61027	2.890000	0.99128	0.650000	0.86243	CCC		0.522	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		7	197	7	197	---	---	---	---	T	73235187	G	T	73235187	3	4	73	1	0	0	0	0	1	0	0	0	16584	1232	43	1	3269	1	TRPM3	9	73235187	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	35488450	73235187	67978244	229	3778										
PRUNE2	158471	broad.mit.edu	37	chr9	79252395	79252395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctggcatcctccttcttgGggttgcaccattcaagtaca	8	14	2	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.chr9:79252395G>T	ENST00000376718.3	-	14	9025	c.8902C>A	c.(8902-8904)Cca>Aca	p.P2968T	PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T|PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2610T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2968	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						CTCCTTCTTGGGGTTGCACCA	0.398																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7828-7830)Cca>Aca		prune homolog 2 (Drosophila)							230	206	213					9																	79252395		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79252395G>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.8902C>A	9.37:g.79252395G>T	ENSP00000365908:p.Pro2968Thr		Somatic				PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2968T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T	p.P2610T			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			14	9028	-			2968					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7828C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.017413|2.017413	0.35606|0.35606	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033	.|T;T;T;T;T;T	.|0.25414	.|1.8;1.8;1.8;1.8;1.8;1.8	5.29|5.29	4.38|4.38	0.52667|0.52667	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.103465|0.103465	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.31420|0.31420	0.93|0.93	0.54753|0.54753	D|D	0.999986|0.999986	.|P;B;D;D	.|0.89917	.|0.624;0.109;0.994;1.0	.|B;B;P;D	.|0.91635	.|0.42;0.09;0.891;0.999	T|T	0.08106|0.08106	-1.0738|-1.0738	6|10	.|0.19147	.|T	.|0.46	-9.5904|-9.5904	16.2824|16.2824	0.82697|0.82697	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	.|233;232;217;2968	.|B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3	.|.;.;.;PRUN2_HUMAN	H|T	2292|233;2968;2610;189;217;141;233;2971	.|ENSP00000365907:P233T;ENSP00000365908:P2968T;ENSP00000397425:P2610T;ENSP00000393843:P217T;ENSP00000393657:P141T;ENSP00000223609:P233T	.|ENSP00000223609:P233T	P|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78442215|78442215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.375000|5.375000	0.66173|0.66173	1.354000|1.354000	0.45846|0.45846	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	214	8	214	---	---	---	---	T	79252395	G	T	79252395	3	4	73	1	0	0	0	0	1	0	0	0	12641	1232	43	1	388	1	PRUNE2	9	79252395	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	6017208	79252395	61961036	230	3779										
CTSL1	1514	broad.mit.edu	37	chr9	90343536	90343536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgggcttttagtgctactGgtgctcttgaaggacagatg	14	6	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.chr9:90343536G>T	ENST00000343150.5	+	5	1323	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	CTSL_ENST00000340342.6_Missense_Mutation_p.G145C|CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron			P07711	CATL1_HUMAN	cathepsin L	145					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)										TAGTGCTACTGGTGCTCTTGA	0.443																																						ENST00000343150.5																			0											c.(433-435)Ggt>Tgt		cathepsin L							152	156	155					9																	90343536		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90343536G>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.433G>T	9.37:g.90343536G>T	ENSP00000345344:p.Gly145Cys		Somatic				CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.G145C	p.G145C			WXS	Illumina GAIIx	Phase_I					5	1323	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.433G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391503	0.83011	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.27557	1.66;1.66;1.66	4.51	4.51	0.55191	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84173	0.0435	10	0.87932	D	0	.	17.4172	0.87504	0.0:0.0:1.0:0.0	.	145	P07711	CATL1_HUMAN	C	145	ENSP00000345344:G145C;ENSP00000365061:G145C;ENSP00000340470:G145C	ENSP00000365061:G145C	G	+	1	0	CTSL1	89533356	1.000000	0.71417	0.118000	0.21660	0.947000	0.59692	8.669000	0.91163	2.327000	0.79052	0.655000	0.94253	GGT		0.443	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	189	6	189	---	---	---	---	T	90343536	G	T	90343536	3	4	73	1	0	0	0	0	1	0	0	0	4038	1348	47	1	447	1	CTSL1	9	90343536	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11091141	90343536	50869895	231	3780										
SPTLC1	10558	broad.mit.edu	37	chr9	94797094	94797094	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attttaacgtcaactgacctGggaggagggagacacttctc	11	9	2	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.chr9:94797094G>T	ENST00000262554.2	-	14	1331	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	442					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CAACTGACCTGGGAGGAGGGA	0.388																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1324-1326)ccC>ccA		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						163	148	153					9																	94797094		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94797094G>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1326C>A	9.37:g.94797094G>T			Somatic					p.P442P	NM_006415.2	NP_006406.1	WXS	Illumina GAIIx	Phase_I	O15269	SPTC1_HUMAN			14	1331	-			442					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1326C>A	CCDS6692.1																																																																																				0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		6	153	6	153	---	---	---	---	T	94797094	G	T	94797094	2	4	73	1	0	0	0	0	0	0	0	1	15122	1335	47	1		1	SPTLC1	9	94797094	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	4453558	94797094	46416337	232	3781										
FANCC	2176	broad.mit.edu	37	chr9	97873771	97873771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgctctctgctgcctccCatcacgggggccgtagtaga	12	14	2	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.chr9:97873771C>A	ENST00000289081.3	-	13	1557	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	FANCC_ENST00000464653.1_5'Flank|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	435					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)				TGCTGCCTCCCATCACGGGGG	0.632			"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.(1303-1305)Ggg>Tgg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							66	71	70					9																	97873771		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.chr9:97873771C>A	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.1303G>T	9.37:g.97873771C>A	ENSP00000289081:p.Gly435Trp		Somatic				FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	p.G435W	NM_000136.2	NP_000127.2	WXS	Illumina GAIIx	Phase_I	Q00597	FANCC_HUMAN			13	1557	-		Acute lymphoblastic leukemia(62;0.138)	435					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1303G>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734428	0.30774	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.52295	0.67;0.67	5.93	0.463	0.16700	.	0.531897	0.22469	N	0.059657	T	0.56543	0.1992	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.42032	-0.9475	10	0.66056	D	0.02	-8.5025	4.9847	0.14183	0.1031:0.5891:0.1113:0.1966	.	435	Q00597	FANCC_HUMAN	W	435	ENSP00000289081:G435W;ENSP00000364454:G435W	ENSP00000289081:G435W	G	-	1	0	FANCC	96913592	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.845000	0.27668	0.372000	0.24591	0.563000	0.77884	GGG		0.632	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		6	130	6	130	---	---	---	---	A	97873771	C	A	97873771	3	1	73	1	0	0	0	0	1	0	0	0	5664	594	21	1	385	1	FANCC	9	97873771	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3076677	97873771	43339660	233	3782										
COL15A1	1306	broad.mit.edu	37	chr9	101748233	101748233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgacccacaggtggaacCgcttcgccatgattgtccag	11	12	0	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.chr9:101748233C>A	ENST00000375001.3	+	3	910	c.487C>A	c.(487-489)Cgc>Agc	p.R163S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	163	Laminin G-like.		R -> H (in dbSNP:rs2075662).		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)				CAGGTGGAACCGCTTCGCCAT	0.612																																						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.(487-489)Cgc>Agc		collagen, type XV, alpha 1							105	100	102					9																	101748233		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748233C>A	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.487C>A	9.37:g.101748233C>A	ENSP00000364140:p.Arg163Ser		Somatic					p.R163S	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			3	910	+		Acute lymphoblastic leukemia(62;0.0562)	163		R -> H (in dbSNP:rs2075662).	TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.487C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929407	0.34096	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73363	-0.74	5.25	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.299857	0.37178	N	0.002213	T	0.69531	0.3121	L	0.41710	1.295	0.37645	D	0.922189	B;P	0.41232	0.23;0.743	B;P	0.44673	0.182;0.457	T	0.72427	-0.4297	10	0.39692	T	0.17	-1.3674	11.9859	0.53147	0.0:0.9148:0.0:0.0852	.	163;133	P39059;B3KTP7	COFA1_HUMAN;.	S	163;133	ENSP00000364140:R163S	ENSP00000364140:R163S	R	+	1	0	COL15A1	100788054	0.234000	0.23783	0.993000	0.49108	0.450000	0.32258	1.563000	0.36364	1.350000	0.45770	0.650000	0.86243	CGC		0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	133	5	133	---	---	---	---	A	101748233	C	A	101748233	3	1	73	1	0	0	0	0	1	0	0	0	3672	652	23	1	497	1	COL15A1	9	101748233	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3874462	101748233	39465198	234	3783										
COL15A1	1306	broad.mit.edu	37	chr9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcttctctttccaggcagGagcagaagcagagggctctg	12	10	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.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		Somatic					p.G589V	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	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	25	43	---	---	---	---	T	101785643	G	T	101785643	3	4	73	1	0	0	0	0	1	0	0	0	3672	1174	41	3	1820	3	COL15A1	9	101785643	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	37410	101785643	39427788	235	3784										
C9orf5	23731	broad.mit.edu	37	chr9	111849550	111849550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaagctttctataatgcccCaccacacatggtagcgtttc	8	12	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.chr9:111849550C>A	ENST00000374586.3	-	6	1254	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	408						integral component of membrane (GO:0016021)											TATAATGCCCCACCACACATG	0.423																																						ENST00000374586.3																			0											c.(1222-1224)tGg>tTg		transmembrane protein 245							95	90	91					9																	111849550		1833	4094	5927	SO:0001583	missense	23731					integral to membrane		g.chr9:111849550C>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1223G>T	9.37:g.111849550C>A	ENSP00000363714:p.Trp408Leu		Somatic					p.W408L	NM_032012.3	NP_114401.2	WXS	Illumina GAIIx	Phase_I	Q9H330	CI005_HUMAN			6	1254	-			408					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1223G>T	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797803	0.31777	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.24350	1.86	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.41236	1.265	0.52099	D	0.999947	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.03587	-1.1022	10	0.17369	T	0.5	-7.2081	20.1271	0.97986	0.0:1.0:0.0:0.0	.	408;408	Q9H330-2;Q9H330	.;CI005_HUMAN	L	408	ENSP00000363714:W408L	ENSP00000223608:W408L	W	-	2	0	C9orf5	110889371	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	6.294000	0.72738	2.758000	0.94735	0.563000	0.77884	TGG		0.423	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		6	103	6	103	---	---	---	---	A	111849550	C	A	111849550	3	1	73	1	0	0	0	0	1	0	0	0	2486	595	21	1	1468	1	C9orf5	9	111849550	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10063907	111849550	29363881	236	3785										
SVEP1	79987	broad.mit.edu	37	chr9	113217947	113217947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattgttgaggcaaggcagtGggctgcactcatcgatgtct	13	9	2	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.chr9:113217947G>T	ENST00000401783.2	-	22	4046	c.3710C>A	c.(3709-3711)cCa>cAa	p.P1237Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1237	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GCAAGGCAGTGGGCTGCACTC	0.443																																						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.(3709-3711)cCa>cAa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							74	70	72					9																	113217947		1922	4130	6052	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113217947G>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.3710C>A	9.37:g.113217947G>T	ENSP00000384917:p.Pro1237Gln		Somatic				SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q	p.P1237Q	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			22	4046	-			1237			EGF-like 2; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3710C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648256	0.67358	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91577	-2.87;-2.87;-2.87	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.055176	0.85682	D	0.000000	D	0.89836	0.6830	L	0.48174	1.505	0.39311	D	0.965076	B;B	0.32010	0.351;0.096	B;B	0.36418	0.224;0.202	D	0.89053	0.3457	10	0.66056	D	0.02	.	20.0206	0.97499	0.0:0.0:1.0:0.0	.	1237;1237	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Q	1237;1214;1237	ENSP00000384917:P1237Q;ENSP00000363593:P1214Q;ENSP00000304118:P1237Q	ENSP00000304118:P1237Q	P	-	2	0	SVEP1	112257768	1.000000	0.71417	0.940000	0.37924	0.243000	0.25628	9.442000	0.97566	2.731000	0.93534	0.591000	0.81541	CCA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	35	5	35	---	---	---	---	T	113217947	G	T	113217947	3	4	73	1	0	0	0	0	1	0	0	0	15417	1348	47	1	7113	1	SVEP1	9	113217947	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1368397	113217947	27995484	237	3786										
TNC	3371	broad.mit.edu	37	chr9	117852972	117852972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcggcacagccacaggccCggcgggggatgttgatgcga	17	12	0	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.chr9:117852972C>A	ENST00000350763.4	-	2	737	c.326G>T	c.(325-327)cGg>cTg	p.R109L	TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L|TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	109					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						GCCACAGGCCCGGCGGGGGAT	0.587																																						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.(325-327)cGg>cTg		tenascin C							187	197	193					9																	117852972		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852972C>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.326G>T	9.37:g.117852972C>A	ENSP00000265131:p.Arg109Leu		Somatic				TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L	p.R109L	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			2	737	-			109					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.326G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155856	0.78114	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	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	5.84	3.02	0.34903	.	0.166320	0.53938	D	0.000055	T	0.48892	0.1525	L	0.60455	1.87	0.44168	D	0.996976	D;D	0.61080	0.989;0.989	P;P	0.59948	0.866;0.809	T	0.43637	-0.9379	10	0.62326	D	0.03	.	10.4362	0.44437	0.0:0.7891:0.0:0.2109	.	109;109	E9PC84;P24821	.;TENA_HUMAN	L	109	ENSP00000344400:R109L;ENSP00000438152:R109L;ENSP00000344555:R109L;ENSP00000345861:R109L;ENSP00000265131:R109L;ENSP00000339553:R109L;ENSP00000411406:R109L;ENSP00000443478:R109L;ENSP00000442242:R109L	ENSP00000344400:R109L	R	-	2	0	TNC	116892793	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.636000	0.37144	0.381000	0.24851	-0.136000	0.14681	CGG		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	429	7	429	---	---	---	---	A	117852972	C	A	117852972	3	1	73	1	0	0	0	0	1	0	0	0	16267	652	23	1	6387	1	TNC	9	117852972	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4635025	117852972	23360459	238	3787										
HSPA5	3309	broad.mit.edu	37	chr9	127999063	127999063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagctttttccatggtctcCttatcttcagaggaaagttt	7	9	3	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.chr9:127999063C>A	ENST00000324460.6	-	8	1976	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	591					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)	CCATGGTCTCCTTATCTTCAG	0.393										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.(1771-1773)aaG>aaT		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						83	87	86					9																	127999063		2203	4297	6500	SO:0001583	missense	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.chr9:127999063C>A		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.1773G>T	9.37:g.127999063C>A	ENSP00000324173:p.Lys591Asn	Prostate(1;0.17)	Somatic					p.K591N	NM_005347.4	NP_005338.1	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			8	1976	-			591					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1773G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639587	0.47153	.	.	ENSG00000044574	ENST00000324460	T	0.19806	2.12	4.67	0.649	0.17806	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	H	0.97659	4.05	0.80722	D	1	D	0.57257	0.979	D	0.67103	0.949	T	0.62181	-0.6908	10	0.87932	D	0	-11.182	9.1237	0.36801	0.0:0.5899:0.0:0.4101	.	591	P11021	GRP78_HUMAN	N	591	ENSP00000324173:K591N	ENSP00000324173:K591N	K	-	3	2	HSPA5	127038884	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	1.069000	0.30641	0.147000	0.19030	-0.966000	0.02617	AAG		0.393	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			6	131	6	131	---	---	---	---	A	127999063	C	A	127999063	3	1	73	1	0	0	0	0	1	0	0	0	7414	680	24	1	195	1	HSPA5	9	127999063	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10146091	127999063	13214368	239	3788										
LMX1B	4010	broad.mit.edu	37	chr9	129455528	129455528	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcggaggcccaagcgacccCggaccatcctcaccacgcag	11	19	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.chr9:129455528C>A	ENST00000373474.4	+	4	674	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	LMX1B_ENST00000355497.5_Silent_p.R223R|LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000526117.1_Silent_p.R223R			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	223			R -> Q (in NPS; dbSNP:rs28939692). {ECO:0000269|PubMed:11668639, ECO:0000269|PubMed:9837817}.		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)	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			2	Substitution - Missense(2)	p.R223G(1)|p.R200G(1)	lung(2)	endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(667-669)Cgg>Agg		LIM homeobox transcription factor 1, beta							37	40	39					9																	129455528		2200	4297	6497	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.chr9:129455528C>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.667C>A	9.37:g.129455528C>A			Somatic				LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000373474.4_Silent_p.R223R|LMX1B_ENST00000526117.1_Silent_p.R223R	p.R223R	NM_001174146.1	NP_001167617.1	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			4	674	+			200					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.667C>A	CCDS55342.1																																																																																				0.682	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			3	9	3	9	---	---	---	---	A	129455528	C	A	129455528	2	1	73	1	0	0	0	0	0	0	0	1	8862	643	23	1		1	LMX1B	9	129455528	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1456465	129455528	11757903	240	3789										
POMT1	10585	broad.mit.edu	37	chr9	134390831	134390831	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcatgatgttgcagccccCctgagcccccattcacagga	10	15	1	2	rs371653610		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.chr9:134390831C>A	ENST00000372228.3	+	13	1439	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000404875.2_Silent_p.P281P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000423007.1_Silent_p.P398P|RP11-334J6.6_ENST00000415423.1_RNA	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	420	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)		TTGCAGCCCCCCTGAGCCCCC	0.502																																						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	GRCh37	CD040921	POMT1	D		c.(1192-1194)ccC>ccA		protein-O-mannosyltransferase 1		C	,,,,	0,4406		0,0,2203	120	118	119		1194,1032,1194,843,1260	-10	0	9		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,,,	398/726,344/672,398/726,281/609,420/748	134390831	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134390831C>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.1260C>A	9.37:g.134390831C>A			Somatic				POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Silent_p.P420P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000404875.2_Silent_p.P281P	p.P398P	NM_001136113.1	NP_001129585.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	13	1636	+		Myeloproliferative disorder(178;0.204)	420			MIR 2.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1194C>A	CCDS6943.1																																																																																				0.502	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		6	109	6	109	---	---	---	---	A	134390831	C	A	134390831	2	1	73	1	0	0	0	0	0	0	0	1	12245	610	22	1		1	POMT1	9	134390831	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4935303	134390831	6822600	241	3790										
LCN12	286256	broad.mit.edu	37	chr9	139847376	139847376	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttcgtcctgggcctggcGggcaacagcttcaggccgga	16	12	1	0	rs372243693		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.chr9:139847376G>T	ENST00000371633.3	+	2	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	49					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			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)		TGGGCCTGGCGGGCAACAGCT	0.647																																						ENST00000371633.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(145-147)gcG>gcT		lipocalin 12							106	120	115					9																	139847376		2101	4211	6312	SO:0001819	synonymous_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847376G>T	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.147G>T	9.37:g.139847376G>T			Somatic					p.A49A	NM_178536.3	NP_848631.2	WXS	Illumina GAIIx	Phase_I	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	147	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	49					A2AMJ7	Silent	SNP	ENST00000371633.3	37	c.147G>T	CCDS7018.2																																																																																				0.647	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		6	211	6	211	---	---	---	---	T	139847376	G	T	139847376	2	4	73	1	0	0	0	0	0	0	0	1	8682	1103	39	1		1	LCN12	9	139847376	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5456545	139847376	1366055	242	3791										
AKR1C1	1645	broad.mit.edu	37	chr10	5014886	5014886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgctaccagctacagcgtgGggttgtggtcctggccaaga	15	11	0	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.chr10:5014886G>T	ENST00000380872.4	+	7	983	c.791G>T	c.(790-792)gGg>gTg	p.G264V	AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	264					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)	p.G264V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CTACAGCGTGGGGTTGTGGTC	0.602																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			1	Substitution - Missense(1)	p.G264V(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(790-792)gGg>gTg		aldo-keto reductase family 1, member C1							97	88	91					10																	5014886		2202	4298	6500	SO:0001583	missense	1645							g.chr10:5014886G>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.791G>T	10.37:g.5014886G>T	ENSP00000370254:p.Gly264Val		Somatic				AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	p.G264V	NM_001353.5	NP_001344.2	WXS	Illumina GAIIx	Phase_I					7	983	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.791G>T	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.602037|1.602037	0.28534|0.28534	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872|ENST00000442997	T;T|T	0.57273|0.57273	0.41;0.41|0.41	1.97|1.97	1.05|1.05	0.20165|0.20165	NADP-dependent oxidoreductase domain (3);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000012|0.000012	T|T	0.71846|0.71846	0.3388|0.3388	H|H	0.94771|0.94771	3.58|3.58	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72191|0.72191	-0.4365|-0.4365	10|8	0.87932|0.87932	D|D	0|0	.|.	6.5418|6.5418	0.22385|0.22385	0.1637:0.0:0.8363:0.0|0.1637:0.0:0.8363:0.0	.|.	264|.	Q04828|.	AK1C1_HUMAN|.	V|W	264|231	ENSP00000412248:G264V;ENSP00000370254:G264V|ENSP00000416415:G231W	ENSP00000370254:G264V|ENSP00000416415:G231W	G|G	+|+	2|1	0|0	AKR1C1|AKR1C1	5004886|5004886	1.000000|1.000000	0.71417|0.71417	0.006000|0.006000	0.13384|0.13384	0.487000|0.487000	0.33371|0.33371	5.248000|5.248000	0.65421|0.65421	0.395000|0.395000	0.25257|0.25257	0.305000|0.305000	0.20034|0.20034	GGG|GGG		0.602	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		6	95	6	95	---	---	---	---	T	5014886	G	T	5014886	3	4	73	1	0	0	0	0	1	0	0	0	469	1232	43	1	817	1	AKR1C1	10	5014886	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		5014886	130519861	243	3792										
CUBN	8029	broad.mit.edu	37	chr10	17151726	17151726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgcacactcttccgtcacCctggtaccctgatgagaaca	8	14	2	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.chr10:17151726C>A	ENST00000377833.4	-	10	1089	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	342	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	CTTCCGTCACCCTGGTACCCT	0.478																																						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.(1024-1026)Ggt>Tgt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						143	103	117					10																	17151726		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.chr10:17151726C>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.1024G>T	10.37:g.17151726C>A	ENSP00000367064:p.Gly342Cys		Somatic					p.G342C	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			10	1089	-			342			EGF-like 4; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1024G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167064	0.78339	.	.	ENSG00000107611	ENST00000377833	D	0.92149	-2.98	5.64	5.64	0.86602	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.45867	D	0.000323	D	0.97723	0.9253	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98667	1.0686	10	0.87932	D	0	.	18.2428	0.89973	0.0:1.0:0.0:0.0	.	342	O60494	CUBN_HUMAN	C	342	ENSP00000367064:G342C	ENSP00000367064:G342C	G	-	1	0	CUBN	17191732	1.000000	0.71417	0.994000	0.49952	0.586000	0.36452	6.890000	0.75633	2.822000	0.97130	0.557000	0.71058	GGT		0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	91	5	91	---	---	---	---	A	17151726	C	A	17151726	3	1	73	1	0	0	0	0	1	0	0	0	4051	623	22	1	10079	1	CUBN	10	17151726	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	12136840	17151726	118383021	244	3793										
SLC39A12	221074	broad.mit.edu	37	chr10	18276493	18276493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccttttccatagctgtgaGgagaactacaggcttatctt	9	9	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.chr10:18276493G>T	ENST00000377369.2	+	7	1455	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	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	394					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						ATAGCTGTGAGGAGAACTACA	0.547																																						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.(1180-1182)gaG>gaT		solute carrier family 39 (zinc transporter), member 12							169	138	148					10																	18276493		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276493G>T		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.1182G>T	10.37:g.18276493G>T	ENSP00000366586:p.Glu394Asp		Somatic				SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	p.E394D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	WXS	Illumina GAIIx	Phase_I	Q504Y0	S39AC_HUMAN			7	1455	+			394					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1182G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407636	0.62399	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.73	2.75	0.32379	.	0.709761	0.14608	N	0.309210	T	0.31979	0.0814	L	0.27053	0.805	0.44030	D	0.996757	P;B;P	0.40834	0.604;0.259;0.73	B;B;B	0.41988	0.372;0.307;0.372	T	0.03875	-1.0996	10	0.25751	T	0.34	-6.1197	4.8082	0.13329	0.2781:0.0:0.5716:0.1503	.	394;394;394	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	394;394;394;260;314	ENSP00000366586:E394D;ENSP00000366591:E394D;ENSP00000366588:E394D;ENSP00000440445:E260D	ENSP00000366586:E394D	E	+	3	2	SLC39A12	18316499	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	1.735000	0.38176	0.794000	0.33899	0.655000	0.94253	GAG		0.547	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		8	122	8	122	---	---	---	---	T	18276493	G	T	18276493	3	4	73	1	0	0	0	0	1	0	0	0	14615	991	35	1	1204	1	SLC39A12	10	18276493	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1124767	18276493	117258254	245	3794										
GPR158	57512	broad.mit.edu	37	chr10	25887349	25887349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaagaacgcactaaatccCagaaacctttgccaaaagat	7	10	0	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.chr10:25887349C>A	ENST00000376351.3	+	11	3153	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	932					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						CACTAAATCCCAGAAACCTTT	0.443																																						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.(2794-2796)Cag>Aag		G protein-coupled receptor 158							123	137	133					10																	25887349		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887349C>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.2794C>A	10.37:g.25887349C>A	ENSP00000365529:p.Gln932Lys		Somatic				GPR158_ENST00000490549.1_3'UTR	p.Q932K	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3153	+			932					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2794C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315671	0.40996	.	.	ENSG00000151025	ENST00000376351	T	0.28895	1.59	5.52	5.52	0.82312	.	0.191135	0.36854	N	0.002362	T	0.31389	0.0795	L	0.54323	1.7	0.40460	D	0.980231	B	0.13145	0.007	B	0.14023	0.01	T	0.20075	-1.0286	10	0.10902	T	0.67	.	19.4412	0.94821	0.0:1.0:0.0:0.0	.	932	Q5T848	GP158_HUMAN	K	932	ENSP00000365529:Q932K	ENSP00000365529:Q932K	Q	+	1	0	GPR158	25927355	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	5.677000	0.68142	2.583000	0.87209	0.650000	0.86243	CAG		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	214	7	214	---	---	---	---	A	25887349	C	A	25887349	3	1	73	1	0	0	0	0	1	0	0	0	6663	595	21	1	2836	1	GPR158	10	25887349	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7610856	25887349	109647398	246	3795										
ACBD5	91452	broad.mit.edu	37	chr10	27499963	27499963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgactggaatgaccaccCaagtaatactgaaatggtcc	10	9	0	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.chr10:27499963C>A	ENST00000375888.1	-	9	1075	c.1011G>T	c.(1009-1011)ttG>ttT	p.L337F	ACBD5_ENST00000396271.3_Missense_Mutation_p.L328F|ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	337					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.L328F(1)|p.L293F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGACCACCCAAGTAATACT	0.388																																						ENST00000396271.3																			2	Substitution - Missense(2)	p.L328F(1)|p.L293F(1)	lung(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(982-984)ttG>ttT		acyl-CoA binding domain containing 5							107	103	104					10																	27499963		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27499963C>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.1011G>T	10.37:g.27499963C>A	ENSP00000365049:p.Leu337Phe		Somatic				ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L337F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F	p.L328F	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	WXS	Illumina GAIIx	Phase_I	Q5T8D3	ACBD5_HUMAN			9	1110	-			337					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.984G>T		.	.	.	.	.	.	.	.	.	.	C	14.00	2.403558	0.42613	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.34072	2.4;2.16;1.41;1.38;2.4	5.28	4.37	0.52481	.	0.198651	0.32785	N	0.005648	T	0.53174	0.1780	M	0.70595	2.14	0.32064	N	0.595242	P;D;P;P	0.65815	0.953;0.995;0.868;0.922	P;D;P;P	0.65874	0.89;0.939;0.653;0.653	T	0.62807	-0.6776	10	0.49607	T	0.09	-4.7399	8.7459	0.34587	0.0:0.8252:0.0:0.1748	.	328;151;326;337	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	F	334;328;293;219;151;337	ENSP00000379568:L328F;ENSP00000365070:L293F;ENSP00000365066:L219F;ENSP00000365062:L151F;ENSP00000365049:L337F	ENSP00000365049:L337F	L	-	3	2	ACBD5	27539969	0.997000	0.39634	0.198000	0.23420	0.263000	0.26337	2.391000	0.44424	1.189000	0.43028	0.561000	0.74099	TTG		0.388	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	100	5	100	---	---	---	---	A	27499963	C	A	27499963	3	1	73	1	0	0	0	0	1	0	0	0	125	593	21	1	613	1	ACBD5	10	27499963	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1612614	27499963	108034784	247	3796										
DNA2	1763	broad.mit.edu	37	chr10	70191661	70191661	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcctgtcccaggcataccCacgatgagtgtgtagtcttt	9	11	1	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.chr10:70191661C>A	ENST00000358410.3	-	13	1991	c.1941G>T	c.(1939-1941)gtG>gtT	p.V647V	DNA2_ENST00000399180.2_Silent_p.V733V|DNA2_ENST00000399179.2_Silent_p.V647V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	647	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						CAGGCATACCCACGATGAGTG	0.363																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2197-2199)gtG>gtT		DNA replication helicase/nuclease 2							195	181	185					10																	70191661		1845	4100	5945	SO:0001819	synonymous_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.chr10:70191661C>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	ENST00000358410.3:c.1941G>T	10.37:g.70191661C>A			Somatic				DNA2_ENST00000358410.3_Silent_p.V647V|DNA2_ENST00000399179.2_Silent_p.V647V	p.V733V			WXS	Illumina GAIIx	Phase_I	P51530	DNA2L_HUMAN			13	2198	-			647					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.2199G>T																																																																																					0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			8	279	8	279	---	---	---	---	A	70191661	C	A	70191661	2	1	73	1	0	0	0	0	0	0	0	1	4596	581	21	1		1	DNA2	10	70191661	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	42691698	70191661	65343086	248	3797										
ZMIZ1	57178	broad.mit.edu	37	chr10	81051939	81051939	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggggtcctaacgccccCgcaggcatgggcatccctcc	12	18	0	0	rs78587165		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.chr10:81051939C>A	ENST00000334512.5	+	11	1355	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	261					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)			CTAACGCCCCCGCAGGCATGG	0.662																																						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.(781-783)ccC>ccA		zinc finger, MIZ-type containing 1							91	103	99					10																	81051939		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81051939C>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.783C>A	10.37:g.81051939C>A			Somatic				ZMIZ1_ENST00000478357.1_3'UTR	p.P261P	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1355	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		261					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.783C>A	CCDS7357.1																																																																																				0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	186	5	186	---	---	---	---	A	81051939	C	A	81051939	2	1	73	1	0	0	0	0	0	0	0	1	17693	639	23	1		1	ZMIZ1	10	81051939	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10860278	81051939	54482808	249	3798										
AGAP11	119385	broad.mit.edu	37	chr10	88769144	88769144	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcttggcacccgcctttccCgtgtgcgatctctggagctg	12	14	2	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.chr10:88769144C>A	ENST00000444431.1	+	0	3744				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_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)										CCGCCTTTCCCGTGTGCGATC	0.527																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							155	175	168					10																	88769144		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769144C>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.88769144C>A			Somatic				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			0	3744	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.527	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		6	342	6	342	---	---	---	---	A	88769144	C	A	88769144	1	1	73	0	1	0	0	0	0	0	0	0	367	652	23	1		1	AGAP11	10	88769144	RNA	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7717205	88769144	46765603	250	3799										
HTR7	3363	broad.mit.edu	37	chr10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagaaatgtcctctccaccCacagtgggatgcagctgcag	10	13	1	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.chr10:92508800C>A	ENST00000336152.3	-	2	1117	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000371721.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	364					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)	CCTCTCCACCCACAGTGGGAT	0.532																																						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.(1090-1092)tGg>tTg		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						104	103	103					10																	92508800		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508800C>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.1091G>T	10.37:g.92508800C>A	ENSP00000337949:p.Trp364Leu		Somatic				HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L	p.W364L			WXS	Illumina GAIIx	Phase_I	P34969	5HT7R_HUMAN			2	1333	-			364					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1091G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584380	0.28268	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.11284	0.12	0.80722	D	1	B;B	0.17038	0.02;0.016	B;B	0.23018	0.043;0.011	T	0.05162	-1.0902	10	0.27785	T	0.31	.	19.2713	0.94011	0.0:1.0:0.0:0.0	.	364;364	P34969;P34969-2	5HT7R_HUMAN;.	L	364	ENSP00000337949:W364L;ENSP00000277874:W364L;ENSP00000360784:W364L;ENSP00000360786:W364L	ENSP00000277874:W364L	W	-	2	0	HTR7	92498780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.546000	0.85860	0.650000	0.86243	TGG		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		6	110	6	110	---	---	---	---	A	92508800	C	A	92508800	3	1	73	1	0	0	0	0	1	0	0	0	7452	595	21	1	364	1	HTR7	10	92508800	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3739656	92508800	43025947	251	3800										
BTAF1	9044	broad.mit.edu	37	chr10	93741458	93741458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtggtagcagctgcttgccCatggatgggtgcttggcttt	15	8	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.chr10:93741458C>A	ENST00000265990.6	+	16	2122	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	605					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)				GCTGCTTGCCCATGGATGGGT	0.423																																						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.(1813-1815)cCa>cAa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							153	151	152					10																	93741458		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93741458C>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.1814C>A	10.37:g.93741458C>A	ENSP00000265990:p.Pro605Gln		Somatic				BTAF1_ENST00000471217.1_3'UTR	p.P605Q	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			16	2122	+		Colorectal(252;0.0846)	605					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1814C>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213755	0.95069	.	.	ENSG00000095564	ENST00000265990	D	0.90261	-2.64	5.89	5.89	0.94794	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	D	0.94094	0.7356	10	0.35671	T	0.21	-5.207	20.2625	0.98452	0.0:1.0:0.0:0.0	.	605;605	Q2M1V9;O14981	.;BTAF1_HUMAN	Q	605	ENSP00000265990:P605Q	ENSP00000265990:P605Q	P	+	2	0	BTAF1	93731438	1.000000	0.71417	0.893000	0.35052	0.989000	0.77384	7.818000	0.86416	2.782000	0.95742	0.557000	0.71058	CCA		0.423	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		6	175	6	175	---	---	---	---	A	93741458	C	A	93741458	3	1	73	1	0	0	0	0	1	0	0	0	1536	594	21	1	1876	1	BTAF1	10	93741458	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1232658	93741458	41793289	252	3801										
TMEM20	159371	broad.mit.edu	37	chr10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaatgctagttgttatccCttgcttaatatacagaaagt	6	8	0	1	rs78174634		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.chr10:95658490C>A	ENST00000427197.1	+	2	402	c.341C>A	c.(340-342)cCt>cAt	p.P114H	SLC35G1_ENST00000371408.3_Missense_Mutation_p.P113H	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	114	EamA 1.				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)											GTTGTTATCCCTTGCTTAATA	0.338																																						ENST00000371408.3																			0											c.(337-339)cCt>cAt		solute carrier family 35, member G1							146	143	144					10																	95658490		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95658490C>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.341C>A	10.37:g.95658490C>A	ENSP00000400932:p.Pro114His		Somatic				SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H	p.P113H			WXS	Illumina GAIIx	Phase_I	Q2M3R5	TMM20_HUMAN			2	399	+			114			DUF6 1.		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.338C>A	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239643	0.79800	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.52983	0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.97110	1.0;0.982;0.974	T	0.67979	-0.5530	10	0.15499	T	0.54	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	97;114;113	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	H	113;114	ENSP00000360462:P113H;ENSP00000400932:P114H	ENSP00000360462:P113H	P	+	2	0	SLC35G1	95648480	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.008000	0.76341	2.861000	0.98227	0.655000	0.94253	CCT		0.338	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		5	69	5	69	---	---	---	---	A	95658490	C	A	95658490	3	1	73	1	0	0	0	0	1	0	0	0	16119	681	24	1	347	1	TMEM20	10	95658490	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1917032	95658490	39876257	253	3802										
PLCE1	51196	broad.mit.edu	37	chr10	95987160	95987160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatgtggccaaatgctgctGgaacatgggcaactacaacg	12	10	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.chr10:95987160G>T	ENST00000371380.3	+	4	2142	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|RP11-391J2.3_ENST00000447227.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	636	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)				AAATGCTGCTGGAACATGGGC	0.517																																						ENST00000371380.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1906-1908)tGg>tTg		phospholipase C, epsilon 1							166	175	172					10																	95987160		2105	4230	6335	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.chr10:95987160G>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.1907G>T	10.37:g.95987160G>T	ENSP00000360431:p.Trp636Leu		Somatic				PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L	p.W636L			WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			4	2142	+		Colorectal(252;0.0458)				Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1907G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307492	0.95629	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.72	5.72	0.89469	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.140197	0.51477	D	0.000087	T	0.53029	0.1771	M	0.71036	2.16	0.58432	D	0.999998	D;P;D	0.71674	0.982;0.94;0.998	P;P;D	0.70227	0.855;0.695;0.968	T	0.53330	-0.8454	10	0.87932	D	0	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	636;328;636	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	636;636;328;328	ENSP00000260766:W636L;ENSP00000360431:W636L;ENSP00000360438:W328L;ENSP00000360426:W328L	ENSP00000260766:W636L	W	+	2	0	PLCE1	95977150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.705000	0.92388	0.555000	0.69702	TGG		0.517	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	178	6	178	---	---	---	---	T	95987160	G	T	95987160	3	4	73	1	0	0	0	0	1	0	0	0	12034	1357	47	1	2207	1	PLCE1	10	95987160	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	328670	95987160	39547587	254	3803										
PYROXD2	84795	broad.mit.edu	37	chr10	100154987	100154987	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggggacttgtcatggctcCaatcactgcatctgtggcta	12	10	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.chr10:100154987C>A	ENST00000370575.4	-	8	799	c.751G>T	c.(751-753)Gga>Tga	p.G251*	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	251							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTCATGGCTCCAATCACTGCA	0.572																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(751-753)Gga>Tga		pyridine nucleotide-disulphide oxidoreductase domain 2							121	118	119					10																	100154987		2203	4300	6503	SO:0001587	stop_gained	84795						oxidoreductase activity	g.chr10:100154987C>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.751G>T	10.37:g.100154987C>A	ENSP00000359607:p.Gly251*		Somatic				PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	p.G251*	NM_032709.2	NP_116098.2	WXS	Illumina GAIIx	Phase_I	Q8N2H3	PYRD2_HUMAN			8	799	-			251					D3DR61|Q5TAA9|Q9BRQ1	Nonsense_Mutation	SNP	ENST00000370575.4	37	c.751G>T	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	37	6.290610	0.97444	.	.	ENSG00000119943	ENST00000370575	.	.	.	5.34	5.34	0.76211	.	0.049871	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2278	16.8607	0.86017	0.0:1.0:0.0:0.0	.	.	.	.	X	251	.	ENSP00000359607:G251X	G	-	1	0	PYROXD2	100144977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.379000	0.79691	2.492000	0.84095	0.655000	0.94253	GGA		0.572	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		6	184	6	184	---	---	---	---	A	100154987	C	A	100154987	4	1	73	1	0	0	0	0	0	1	0	0	12867	603	21	1	1030	1	PYROXD2	10	100154987	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4167827	100154987	35379760	255	3804										
DCLRE1A	9937	broad.mit.edu	37	chr10	115609163	115609163	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatttctcttcctttcttttGggaggtagtccaaaatacac	6	9	2	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.chr10:115609163G>T	ENST00000361384.2	-	2	2618	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	DCLRE1A_ENST00000369305.1_Silent_p.P567P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	567	Nuclear focus formation.				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)		CCTTTCTTTTGGGAGGTAGTC	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.(1699-1701)ccC>ccA	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							153	152	152					10																	115609163		2203	4300	6503	SO:0001819	synonymous_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609163G>T		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.1701C>A	10.37:g.115609163G>T			Somatic				DCLRE1A_ENST00000369305.1_Silent_p.P567P	p.P567P	NM_014881.3	NP_055696.3	WXS	Illumina GAIIx	Phase_I	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2618	-			567			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	c.1701C>A	CCDS7584.1																																																																																				0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	150	6	150	---	---	---	---	T	115609163	G	T	115609163	2	4	73	1	0	0	0	0	0	0	0	1	4294	1335	47	1		1	DCLRE1A	10	115609163	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	15454176	115609163	19925584	256	3805										
DMBT1	1755	broad.mit.edu	37	chr10	124330412	124330412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccaccctgcaggttctcCatttccctcggagtcgaccc	7	18	2	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.chr10:124330412C>A	ENST00000338354.3	+	4	252	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	49					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)				GCAGGTTCTCCATTTCCCTCG	0.552																																					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.(145-147)cCa>cAa		deleted in malignant brain tumors 1							172	173	173					10																	124330412		1901	4121	6022	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.chr10:124330412C>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.146C>A	10.37:g.124330412C>A	ENSP00000342210:p.Pro49Gln		Somatic				DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q	p.P49Q			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			4	252	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	49					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.146C>A		.	.	.	.	.	.	.	.	.	.	C	7.894	0.733038	0.15507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.23552	2.1;2.08;1.9;2.1;2.08;1.9;1.94	1.9	-1.14	0.09741	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	P;P;B;D;B	0.60575	0.921;0.941;0.171;0.988;0.084	B;P;B;P;B	0.52646	0.33;0.61;0.017;0.705;0.036	T	0.12426	-1.0548	9	0.14252	T	0.57	.	2.4853	0.04597	0.0:0.1886:0.2914:0.52	.	49;49;49;49;49	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Q	49	ENSP00000342210:P49Q;ENSP00000343175:P49Q;ENSP00000327747:P49Q;ENSP00000357905:P49Q;ENSP00000357951:P49Q;ENSP00000357952:P49Q;ENSP00000352593:P49Q	ENSP00000331522:P49Q	P	+	2	0	DMBT1	124320402	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.145000	0.16157	-0.207000	0.10187	-1.021000	0.02439	CCA		0.552	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	195	7	195	---	---	---	---	A	124330412	C	A	124330412	3	1	73	1	0	0	0	0	1	0	0	0	4577	594	21	1	160	1	DMBT1	10	124330412	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8721249	124330412	11204335	257	3806										
FAM175B	23172	broad.mit.edu	37	chr10	126490444	126490444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttcagtgctgtgtgtttcCacagcgccaacagcaacgcg	10	14	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.chr10:126490444C>A	ENST00000298492.5	+	1	91	c.46C>A	c.(46-48)Cac>Aac	p.H16N		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	16	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						TGTGTGTTTCCACAGCGCCAA	0.677																																						ENST00000298492.5																			0				NS(1)	1						c.(46-48)Cac>Aac		family with sequence similarity 175, member B							87	95	93					10																	126490444		1949	4141	6090	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126490444C>A	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.46C>A	10.37:g.126490444C>A	ENSP00000298492:p.His16Asn		Somatic					p.H16N	NM_032182.3	NP_115558.3	WXS	Illumina GAIIx	Phase_I	Q15018	F175B_HUMAN			1	91	+			16			MPN-like.		B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.46C>A	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517484	0.64634	.	.	ENSG00000165660	ENST00000298492	T	0.42900	0.96	4.51	4.51	0.55191	.	0.139668	0.47852	D	0.000219	T	0.33760	0.0874	L	0.50333	1.59	0.46749	D	0.999186	B	0.34015	0.435	B	0.31751	0.135	T	0.07809	-1.0753	10	0.21540	T	0.41	-20.5723	10.7366	0.46128	0.0:0.907:0.0:0.093	.	16	Q15018	F175B_HUMAN	N	16	ENSP00000298492:H16N	ENSP00000298492:H16N	H	+	1	0	FAM175B	126480434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.481000	0.83766	0.563000	0.77884	CAC		0.677	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		6	150	6	150	---	---	---	---	A	126490444	C	A	126490444	3	1	73	1	0	0	0	0	1	0	0	0	5498	594	21	1	48	1	FAM175B	10	126490444	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2160032	126490444	9044303	258	3807										
PTPRE	5791	broad.mit.edu	37	chr10	129867974	129867974	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgcgggcgtgggccggacGggcaccttcattgtgatcga	17	11	1	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.chr10:129867974G>T	ENST00000254667.3	+	13	1305	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	342	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)	TGGGCCGGACGGGCACCTTCA	0.577											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									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.(1024-1026)acG>acT		protein tyrosine phosphatase, receptor type, E							190	175	180					10																	129867974		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.chr10:129867974G>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.1026G>T	10.37:g.129867974G>T			Somatic	OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	p.T342T	NM_006504.4	NP_006495.1	WXS	Illumina GAIIx	Phase_I	P23469	PTPRE_HUMAN			13	1305	+		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)	342			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.1026G>T	CCDS7657.1																																																																																				0.577	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			6	217	6	217	---	---	---	---	T	129867974	G	T	129867974	2	4	73	1	0	0	0	0	0	0	0	1	12800	1103	39	1		1	PTPRE	10	129867974	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3377530	129867974	5666773	259	3808										
C10orf91	170393	broad.mit.edu	37	chr10	134261403	134261403	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccccagcgcccctgcctcCgggcgcccgcggcctccgca	11	24	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.chr10:134261403C>A	ENST00000392630.3	+	3	337	c.276C>A	c.(274-276)tcC>tcA	p.S92S	C10orf91_ENST00000321248.2_Silent_p.S92S|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	92										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)		CCCCTGCCTCCGGGCGCCCGC	0.667																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(274-276)tcC>tcA		chromosome 10 open reading frame 91							77	90	86					10																	134261403		2203	4300	6503	SO:0001819	synonymous_variant	170393							g.chr10:134261403C>A	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.276C>A	10.37:g.134261403C>A			Somatic				C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.S92S	p.S92S	NM_173541.2	NP_775812.1	WXS	Illumina GAIIx	Phase_I	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	337	+		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)	92					Q8N0T7	Silent	SNP	ENST00000392630.3	37	c.276C>A	CCDS7668.1																																																																																				0.667	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		6	220	6	220	---	---	---	---	A	134261403	C	A	134261403	2	1	73	1	0	0	0	0	0	0	0	1	1624	639	23	1		1	C10orf91	10	134261403	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4393429	134261403	1273344	260	3809										
LRRC56	115399	broad.mit.edu	37	chr11	550100	550100	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcctcctacaacaacatctCggacctgagcccactgtgcc	7	18	1	1	rs560844721		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.chr11:550100C>A	ENST00000270115.7	+	8	952	c.452C>A	c.(451-453)tCg>tAg	p.S151*		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	151										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)		AACAACATCTCGGACCTGAGC	0.667																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(451-453)tCg>tAg		leucine rich repeat containing 56							107	103	104					11																	550100		2203	4300	6503	SO:0001587	stop_gained	115399							g.chr11:550100C>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.452C>A	11.37:g.550100C>A	ENSP00000270115:p.Ser151*		Somatic					p.S151*	NM_198075.3	NP_932341.1	WXS	Illumina GAIIx	Phase_I	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)	8	952	+		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)	151					Q8N3Q4	Nonsense_Mutation	SNP	ENST00000270115.7	37	c.452C>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	41	8.598853	0.98879	.	.	ENSG00000161328	ENST00000270115	.	.	.	5.1	5.1	0.69264	.	0.070036	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.1544	15.9872	0.80168	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000270115:S151X	S	+	2	0	LRRC56	540100	0.342000	0.24809	0.936000	0.37596	0.820000	0.46376	2.123000	0.41996	2.373000	0.80994	0.491000	0.48974	TCG		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		5	87	5	87	---	---	---	---	A	550100	C	A	550100	4	1	73	1	0	0	0	0	0	1	0	0	9012	893	31	3	470	3	LRRC56	11	550100	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		550100	134456416	261	3810										
MUC5B	727897	broad.mit.edu	37	chr11	1255481	1255481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactgcagcaacagctcggcGggcacccctggggccgagtg	16	14	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.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			Somatic				MUC5B_ENST00000529681.1_Silent_p.A808A	p.A811A			WXS	Illumina GAIIx	Phase_I	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	6	16	---	---	---	---	A	1255481	G	A	1255481	2	1	73	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	705381	1255481	133751035	262	3811										
SBF2	81846	broad.mit.edu	37	chr11	9868556	9868556	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcatgttctgctgtagctGgttctgcattgtaatcttct	9	8	4	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.chr11:9868556G>T	ENST00000256190.8	-	23	3018	c.2881C>A	c.(2881-2883)Cag>Aag	p.Q961K	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	961					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)		TGCTGTAGCTGGTTCTGCATT	0.413																																						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.(2881-2883)Cag>Aag		SET binding factor 2							234	200	211					11																	9868556		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9868556G>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.2881C>A	11.37:g.9868556G>T	ENSP00000256190:p.Gln961Lys		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.Q961K	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	23	3018	-			961					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2881C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922209	0.73213	.	.	ENSG00000133812	ENST00000256190	D	0.81579	-1.51	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	L	0.55481	1.735	0.80722	D	1	P	0.37864	0.61	B	0.36186	0.219	T	0.77520	-0.2557	10	0.40728	T	0.16	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	961	Q86WG5	MTMRD_HUMAN	K	961	ENSP00000256190:Q961K	ENSP00000256190:Q961K	Q	-	1	0	SBF2	9825132	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CAG		0.413	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	179	7	179	---	---	---	---	T	9868556	G	T	9868556	3	4	73	1	0	0	0	0	1	0	0	0	13859	1357	47	1	2740	1	SBF2	11	9868556	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8613075	9868556	125137960	263	3812										
F2	2147	broad.mit.edu	37	chr11	46750354	46750354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcagtgactacattcaccCtgtgtgtctgcccgacaggg	10	13	3	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.chr11:46750354C>A	ENST00000311907.5	+	11	1495	c.1439C>A	c.(1438-1440)cCt>cAt	p.P480H	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	480	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)	TACATTCACCCTGTGTGTCTG	0.577																																					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.(1438-1440)cCt>cAt		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)						105	93	97					11																	46750354		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.chr11:46750354C>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.1439C>A	11.37:g.46750354C>A	ENSP00000308541:p.Pro480His		Somatic				F2_ENST00000530231.1_Intron	p.P480H	NM_000506.3	NP_000497.1	WXS	Illumina GAIIx	Phase_I	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	11	1495	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	480			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1439C>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802821	0.90623	.	.	ENSG00000180210	ENST00000311907	D	0.95788	-3.81	5.97	5.97	0.96955	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98971	1.0801	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	480	P00734	THRB_HUMAN	H	480	ENSP00000308541:P480H	ENSP00000308541:P480H	P	+	2	0	F2	46706930	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.703000	0.84585	2.828000	0.97474	0.655000	0.94253	CCT		0.577	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			6	109	6	109	---	---	---	---	A	46750354	C	A	46750354	3	1	73	1	0	0	0	0	1	0	0	0	5342	681	24	1	1481	1	F2	11	46750354	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	36881798	46750354	88256162	264	3813										
OR4D6	219983	broad.mit.edu	37	chr11	59225298	59225298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaccccatcatctattccCtgagaaatcaagagatgaag	7	10	3	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.chr11:59225298C>A	ENST00000300127.2	+	1	888	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	289						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						CATCTATTCCCTGAGAAATCA	0.512																																						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.(865-867)Ctg>Atg		olfactory receptor, family 4, subfamily D, member 6							108	110	109					11																	59225298		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225298C>A	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.865C>A	11.37:g.59225298C>A	ENSP00000300127:p.Leu289Met		Somatic					p.L289M	NM_001004708.1	NP_001004708.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ1	OR4D6_HUMAN			1	888	+			289					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.865C>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274472	0.40194	.	.	ENSG00000166884	ENST00000300127	T	0.48836	0.8	6.01	5.1	0.69264	.	0.000000	0.42294	D	0.000735	T	0.61400	0.2344	M	0.64260	1.97	0.35589	D	0.806912	D	0.65815	0.995	P	0.58721	0.844	T	0.73748	-0.3885	10	0.87932	D	0	-10.1745	14.0595	0.64790	0.0:0.9272:0.0:0.0728	.	289	Q8NGJ1	OR4D6_HUMAN	M	289	ENSP00000300127:L289M	ENSP00000300127:L289M	L	+	1	2	OR4D6	58981874	0.902000	0.30710	0.963000	0.40424	0.003000	0.03518	1.883000	0.39658	1.553000	0.49476	-0.140000	0.14226	CTG		0.512	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		6	157	6	157	---	---	---	---	A	59225298	C	A	59225298	3	1	73	1	0	0	0	0	1	0	0	0	11058	680	24	1	867	1	OR4D6	11	59225298	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	12474944	59225298	75781218	265	3814										
MRPL16	54948	broad.mit.edu	37	chr11	59573832	59573832	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacactcactacacacgtttGggcatgtagaacttgcccca	7	13	1	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.chr11:59573832G>T	ENST00000300151.4	-	4	957	c.744C>A	c.(742-744)ccC>ccA	p.P248P		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	248					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACACACGTTTGGGCATGTAGA	0.473																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(742-744)ccC>ccA		mitochondrial ribosomal protein L16							192	181	185					11																	59573832		2201	4295	6496	SO:0001819	synonymous_variant	54948						rRNA binding	g.chr11:59573832G>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.744C>A	11.37:g.59573832G>T			Somatic					p.P248P	NM_017840.3	NP_060310.1	WXS	Illumina GAIIx	Phase_I	Q9NX20	RM16_HUMAN			4	957	-			248					Q9BYD0|Q9HB70	Silent	SNP	ENST00000300151.4	37	c.744C>A	CCDS7976.1																																																																																				0.473	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		7	233	7	233	---	---	---	---	T	59573832	G	T	59573832	2	4	73	1	0	0	0	0	0	0	0	1	9781	1335	47	1		1	MRPL16	11	59573832	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	348534	59573832	75432684	266	3815										
AHNAK	79026	broad.mit.edu	37	chr11	62295012	62295012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggggcccttcagcttccCttctggaccttcaaggctca	9	15	4	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.chr11:62295012C>A	ENST00000378024.4	-	5	7151	c.6877G>T	c.(6877-6879)Ggg>Tgg	p.G2293W	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2293					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)				TTCAGCTTCCCTTCTGGACCT	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.(6877-6879)Ggg>Tgg		AHNAK nucleoprotein							165	172	170					11																	62295012		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295012C>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.6877G>T	11.37:g.62295012C>A	ENSP00000367263:p.Gly2293Trp		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G2293W	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	7151	-		Melanoma(852;0.155)	2293					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6877G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735637	0.49045	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.18960	2.18	3.91	3.91	0.45181	.	0.203139	0.24120	U	0.041379	T	0.55000	0.1893	M	0.90922	3.16	0.26086	N	0.981024	D	0.89917	1.0	D	0.91635	0.999	T	0.57452	-0.7809	10	0.72032	D	0.01	-6.561	15.9788	0.80091	0.0:1.0:0.0:0.0	.	2293	Q09666	AHNK_HUMAN	W	382;2293	ENSP00000367263:G2293W	ENSP00000244934:G382W	G	-	1	0	AHNAK	62051588	0.268000	0.24133	0.023000	0.16930	0.826000	0.46750	4.713000	0.61895	1.897000	0.54924	0.291000	0.19559	GGG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	301	10	301	---	---	---	---	A	62295012	C	A	62295012	3	1	73	1	0	0	0	0	1	0	0	0	414	681	24	1	10915	1	AHNAK	11	62295012	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2721180	62295012	72711504	267	3816										
SLC22A8	9376	broad.mit.edu	37	chr11	62782166	62782166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggctccatggccctctGggtgtcattgggcaggctgg	16	11	2	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.chr11:62782166G>T	ENST00000336232.2	-	2	400	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000545207.1_5'UTR|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K	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	89					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)	ATGGCCCTCTGGGTGTCATTG	0.597																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(265-267)Cag>Aag		solute carrier family 22 (organic anion transporter), member 8							153	154	154					11																	62782166		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.chr11:62782166G>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.265C>A	11.37:g.62782166G>T	ENSP00000337335:p.Gln89Lys		Somatic				SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_5'UTR	p.Q89K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	WXS	Illumina GAIIx	Phase_I	Q8TCC7	S22A8_HUMAN			2	400	-			89					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.265C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257782	0.10239	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.64991	-0.11;-0.13;-0.11	5.14	4.16	0.48862	Major facilitator superfamily domain (1);	0.423029	0.22695	N	0.056768	T	0.51568	0.1682	L	0.50333	1.59	0.31721	N	0.638326	B;B	0.12013	0.005;0.0	B;B	0.16289	0.015;0.012	T	0.49716	-0.8910	10	0.16420	T	0.52	.	10.4289	0.44395	0.1019:0.0:0.8981:0.0	.	89;89	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	89;75;89;89	ENSP00000337335:Q89K;ENSP00000311463:Q89K;ENSP00000398548:Q89K	ENSP00000311463:Q89K	Q	-	1	0	SLC22A8	62538742	0.002000	0.14202	1.000000	0.80357	0.828000	0.46876	0.091000	0.15046	2.659000	0.90383	0.655000	0.94253	CAG		0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		7	195	7	195	---	---	---	---	T	62782166	G	T	62782166	3	4	73	1	0	0	0	0	1	0	0	0	14460	1357	47	1	1403	1	SLC22A8	11	62782166	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	487154	62782166	72224350	268	3817										
NAA40	79829	broad.mit.edu	37	chr11	63721499	63721499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacacaatcatggtgcctacCagttcttcagagaagcgttg	9	10	3	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.chr11:63721499C>A	ENST00000377793.4	+	7	651	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K|NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	184	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGGTGCCTACCAGTTCTTCAG	0.502																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(550-552)Cag>Aag		N(alpha)-acetyltransferase 40, NatD catalytic subunit							173	177	176					11																	63721499		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63721499C>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.550C>A	11.37:g.63721499C>A	ENSP00000367024:p.Gln184Lys		Somatic				NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K|NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K	p.Q184K	NM_024771.2	NP_079047.2	WXS	Illumina GAIIx	Phase_I	Q86UY6	NAA40_HUMAN			7	651	+			184			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.550C>A	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269871	0.23221	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	T;T;T	0.19250	2.16;2.16;2.16	5.28	5.28	0.74379	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	N	0.04018	-0.295	0.80722	D	1	P;B	0.42757	0.789;0.011	B;B	0.43575	0.424;0.01	T	0.06807	-1.0806	10	0.02654	T	1	-16.0539	17.6823	0.88247	0.0:1.0:0.0:0.0	.	144;184	B4DU10;Q86UY6	.;NAA40_HUMAN	K	184;144;71;163	ENSP00000367024:Q184K;ENSP00000407578:Q144K;ENSP00000442055:Q163K	ENSP00000367024:Q184K	Q	+	1	0	NAA40	63478075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.489000	0.81451	2.474000	0.83562	0.462000	0.41574	CAG		0.502	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		6	191	6	191	---	---	---	---	A	63721499	C	A	63721499	3	1	73	1	0	0	0	0	1	0	0	0	10125	595	21	1	576	1	NAA40	11	63721499	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	939333	63721499	71285017	269	3818										
LTBP3	4054	broad.mit.edu	37	chr11	65325189	65325189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccctgctgacaactgtccCgacactggcccttgagacag	10	15	0	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.chr11:65325189C>A	ENST00000301873.5	-	1	510	c.242G>T	c.(241-243)cGg>cTg	p.R81L	LTBP3_ENST00000536982.1_5'UTR|LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	81	Gly-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						ACAACTGTCCCGACACTGGCC	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.(241-243)cGg>cTg		latent transforming growth factor beta binding protein 3							61	51	55					11																	65325189		2199	4297	6496	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325189C>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.242G>T	11.37:g.65325189C>A	ENSP00000301873:p.Arg81Leu		Somatic				LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L|LTBP3_ENST00000536982.1_5'UTR	p.R81L	NM_001130144.2	NP_001123616.1	WXS	Illumina GAIIx	Phase_I	Q9NS15	LTBP3_HUMAN			1	510	-			81			Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.242G>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297467	0.60086	.	.	ENSG00000168056	ENST00000322147;ENST00000301873	T;T	0.80566	-1.31;-1.39	4.07	-0.717	0.11208	.	0.677562	0.13902	N	0.354859	T	0.53706	0.1813	N	0.08118	0	0.80722	D	1	B;P	0.42161	0.001;0.772	B;B	0.38712	0.0;0.28	T	0.47045	-0.9147	10	0.38643	T	0.18	.	0.6062	0.00753	0.3307:0.3071:0.1619:0.2002	.	81;81	Q9NS15;Q9NS15-2	LTBP3_HUMAN;.	L	81	ENSP00000326647:R81L;ENSP00000301873:R81L	ENSP00000301873:R81L	R	-	2	0	LTBP3	65081765	0.966000	0.33281	0.946000	0.38457	0.993000	0.82548	0.579000	0.23788	-0.017000	0.14103	0.561000	0.74099	CGG		0.692	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	70	4	70	---	---	---	---	A	65325189	C	A	65325189	3	1	73	1	0	0	0	0	1	0	0	0	9075	652	23	1	3781	1	LTBP3	11	65325189	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1603690	65325189	69681327	270	3819										
ADRBK1	156	broad.mit.edu	37	chr11	67051215	67051215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagcccctttttccgctccCtggactggcagatggtcttc	10	14	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.chr11:67051215C>A	ENST00000308595.5	+	16	1656	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	456	AGC-kinase C-terminal.				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)			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)	TTTCCGCTCCCTGGACTGGCA	0.617																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1366-1368)Ctg>Atg		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						77	89	85					11																	67051215		2200	4295	6495	SO:0001583	missense	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.chr11:67051215C>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.1366C>A	11.37:g.67051215C>A	ENSP00000312262:p.Leu456Met		Somatic				ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	p.L456M	NM_001619.3	NP_001610.2	WXS	Illumina GAIIx	Phase_I	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		16	1656	+			456			AGC-kinase C-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1366C>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	3.609	-0.079910	0.07141	.	.	ENSG00000173020	ENST00000308595	T	0.54479	0.57	5.62	-0.794	0.10918	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.43110	D	0.000619	T	0.27866	0.0686	N	0.16266	0.395	0.80722	D	1	B	0.22276	0.067	B	0.23419	0.046	T	0.03000	-1.1084	10	0.48119	T	0.1	-4.517	2.281	0.04114	0.1897:0.4693:0.1277:0.2133	.	456	P25098	ARBK1_HUMAN	M	456	ENSP00000312262:L456M	ENSP00000312262:L456M	L	+	1	2	ADRBK1	66807791	0.258000	0.24033	0.794000	0.32065	0.001000	0.01503	0.816000	0.27267	0.060000	0.16281	-1.148000	0.01847	CTG		0.617	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		6	77	6	77	---	---	---	---	A	67051215	C	A	67051215	3	1	73	1	0	0	0	0	1	0	0	0	343	680	24	1	1428	1	ADRBK1	11	67051215	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1726026	67051215	67955301	271	3820										
FGF3	2248	broad.mit.edu	37	chr11	69631132	69631132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcatggccaggtaccgccCggagaagagacccctgatgg	14	12	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.chr11:69631132C>A	ENST00000334134.2	-	2	370	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	94					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)			AGGTACCGCCCGGAGAAGAGA	0.612																																						ENST00000334134.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(280-282)Ggg>Tgg		fibroblast growth factor 3							160	135	143					11																	69631132		2200	4294	6494	SO:0001583	missense	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.chr11:69631132C>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.280G>T	11.37:g.69631132C>A	ENSP00000334122:p.Gly94Trp		Somatic					p.G94W	NM_005247.2	NP_005238.1	WXS	Illumina GAIIx	Phase_I	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	370	-			94					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.280G>T	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182834	0.78677	.	.	ENSG00000186895	ENST00000334134	T	0.70399	-0.48	4.83	4.83	0.62350	.	0.055211	0.64402	D	0.000001	D	0.86727	0.6002	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89063	0.3464	9	.	.	.	.	17.9426	0.89030	0.0:1.0:0.0:0.0	.	94	P11487	FGF3_HUMAN	W	94	ENSP00000334122:G94W	.	G	-	1	0	FGF3	69340069	1.000000	0.71417	0.649000	0.29536	0.993000	0.82548	4.546000	0.60705	2.231000	0.72958	0.555000	0.69702	GGG		0.612	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		6	119	6	119	---	---	---	---	A	69631132	C	A	69631132	3	1	73	1	0	0	0	0	1	0	0	0	5853	652	23	1	447	1	FGF3	11	69631132	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2579917	69631132	65375384	272	3821										
MMP1	4312	broad.mit.edu	37	chr11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagctgtagatgtccttgGggtatccgtgtagcacattc	13	8	0	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.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATGTCCTTGGGGTATCCGTG	0.448																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1081-1083)cCc>cAc		matrix metallopeptidase 1 (interstitial collagenase)							250	231	237					11																	102662178		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102662178G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1082C>A	11.37:g.102662178G>T	ENSP00000322788:p.Pro361His		Somatic				WTAPP1_ENST00000525739.2_RNA	p.P361H	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	WXS	Illumina GAIIx	Phase_I	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	8	1149	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	361			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1082C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.833361	0.71258	.	.	ENSG00000196611	ENST00000315274	T	0.59224	0.28	5.62	4.7	0.59300	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000010	D	0.84365	0.5456	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90020	0.4127	10	0.87932	D	0	.	14.1056	0.65088	0.0729:0.0:0.9271:0.0	.	361	P03956	MMP1_HUMAN	H	361	ENSP00000322788:P361H	ENSP00000322788:P361H	P	-	2	0	MMP1	102167388	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	6.563000	0.73964	1.498000	0.48600	0.655000	0.94253	CCC		0.448	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		7	259	7	259	---	---	---	---	T	102662178	G	T	102662178	3	4	73	1	0	0	0	0	1	0	0	0	9648	1232	43	1	339	1	MMP1	11	102662178	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	33031046	102662178	32344338	273	3822										
USP28	57646	broad.mit.edu	37	chr11	113679043	113679043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actcagtgccgcttctacacCgctcttctcataggcacggg	9	15	4	0	rs143699311		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.chr11:113679043C>A	ENST00000003302.4	-	18	2349	c.2281G>T	c.(2281-2283)Ggt>Tgt	p.G761C	USP28_ENST00000544967.1_Missense_Mutation_p.G469C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000545540.1_Missense_Mutation_p.G636C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					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.G761S(1)		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)		GCTTCTACACCGCTCTTCTCA	0.522																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Missense(1)	p.G761S(1)	prostate(1)	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.(2281-2283)Ggt>Tgt		ubiquitin specific peptidase 28							171	164	167					11																	113679043		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.chr11:113679043C>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.2281G>T	11.37:g.113679043C>A	ENSP00000003302:p.Gly761Cys		Somatic				USP28_ENST00000545540.1_Missense_Mutation_p.G636C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000544967.1_Missense_Mutation_p.G469C	p.G761C	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	18	2349	-		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)	761					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2281G>T	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417870|3.417870	0.62622|0.62622	.|.	.|.	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.53206|.	1.42;1.2;0.63;1.22|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.604154|.	0.18840|.	N|.	0.129709|.	T|T	0.71710|0.71710	0.3372|0.3372	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D|.	0.89917|.	0.002;1.0;0.997|.	B;D;D|.	0.72075|.	0.003;0.976;0.921|.	T|T	0.67452|0.67452	-0.5667|-0.5667	10|5	0.39692|.	T|.	0.17|.	-11.9395|-11.9395	19.2891|19.2891	0.94092|0.94092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;761;469|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	C|L	761;761;469;636|77	ENSP00000003302:G761C;ENSP00000260188:G761C;ENSP00000442431:G469C;ENSP00000444991:G636C|.	ENSP00000003302:G761C|.	G|R	-|-	1|2	0|0	USP28|USP28	113184253|113184253	0.996000|0.996000	0.38824|0.38824	0.502000|0.502000	0.27614|0.27614	0.329000|0.329000	0.28539|0.28539	5.473000|5.473000	0.66774|0.66774	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.522	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	240	5	240	---	---	---	---	A	113679043	C	A	113679043	3	1	73	1	0	0	0	0	1	0	0	0	17055	652	23	1	984	1	USP28	11	113679043	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	11016865	113679043	21327473	274	3823										
FOXR1	283150	broad.mit.edu	37	chr11	118851309	118851309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcctgtcagcatgcagggcGgggccagcacacggcctcga	15	14	1	0	rs556776624		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.chr11:118851309G>T	ENST00000317011.3	+	5	946	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	241					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)		CATGCAGGGCGGGGCCAGCAC	0.612																																						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.(721-723)Ggg>Tgg		forkhead box R1							70	71	71					11																	118851309		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.chr11:118851309G>T	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.721G>T	11.37:g.118851309G>T	ENSP00000314806:p.Gly241Trp		Somatic					p.G241W	NM_181721.2	NP_859072.1	WXS	Illumina GAIIx	Phase_I	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	946	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	241					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.721G>T	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227256	0.39399	.	.	ENSG00000176302	ENST00000317011	D	0.95756	-3.8	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.509285	0.19493	N	0.112938	D	0.97340	0.9130	M	0.70595	2.14	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	D	0.93130	0.6532	10	0.72032	D	0.01	.	17.0099	0.86403	0.0:0.0:1.0:0.0	.	241	Q6PIV2	FOXR1_HUMAN	W	241	ENSP00000314806:G241W	ENSP00000314806:G241W	G	+	1	0	FOXR1	118356519	0.886000	0.30341	0.010000	0.14722	0.133000	0.20885	4.038000	0.57318	2.604000	0.88044	0.650000	0.86243	GGG		0.612	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		5	131	5	131	---	---	---	---	T	118851309	G	T	118851309	3	4	73	1	0	0	0	0	1	0	0	0	6031	1116	39	1	739	1	FOXR1	11	118851309	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5172266	118851309	16155207	275	3824										
TRIM29	23650	broad.mit.edu	37	chr11	120008334	120008334	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggacaccgtgggcttccGggactccgagaaaatggact	14	10	0	1	rs531272292		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.chr11:120008334G>T	ENST00000341846.5	-	1	827	c.406C>A	c.(406-408)Cgg>Agg	p.R136R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	136					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)		GTGGGCTTCCGGGACTCCGAG	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.(406-408)Cgg>Agg		tripartite motif containing 29							82	96	91					11																	120008334		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.chr11:120008334G>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.406C>A	11.37:g.120008334G>T			Somatic					p.R136R	NM_012101.3	NP_036233.2	WXS	Illumina GAIIx	Phase_I	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	827	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.406C>A	CCDS8428.1																																																																																				0.657	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		6	196	6	196	---	---	---	---	T	120008334	G	T	120008334	2	4	73	1	0	0	0	0	0	0	0	1	16500	1115	39	1		1	TRIM29	11	120008334	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1157025	120008334	14998182	276	3825										
ROBO3	64221	broad.mit.edu	37	chr11	124747172	124747172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attttccccagtgtccttccCgcactcagagggcctctctg	8	16	2	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.chr11:124747172C>A	ENST00000397801.1	+	19	3005	c.2813C>A	c.(2812-2814)cCg>cAg	p.P938Q	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q|ROBO3_ENST00000525482.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	938					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)		GTGTCCTTCCCGCACTCAGAG	0.617																																						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.(2812-2814)cCg>cAg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							119	112	114					11																	124747172		1891	4108	5999	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124747172C>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.2813C>A	11.37:g.124747172C>A	ENSP00000380903:p.Pro938Gln		Somatic				ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q	p.P938Q	NM_022370.3	NP_071765.2	WXS	Illumina GAIIx	Phase_I	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	19	3005	+	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)	938						Missense_Mutation	SNP	ENST00000397801.1	37	c.2813C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273166	0.59649	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62364	0.03;0.04	5.4	5.4	0.78164	.	0.000000	0.38837	N	0.001549	T	0.48241	0.1489	N	0.20986	0.625	0.80722	D	1	B	0.25743	0.133	B	0.32289	0.143	T	0.42275	-0.9461	10	0.02654	T	1	.	16.9402	0.86216	0.0:1.0:0.0:0.0	.	938	Q96MS0	ROBO3_HUMAN	Q	938;916	ENSP00000380903:P938Q;ENSP00000441797:P916Q	ENSP00000380903:P938Q	P	+	2	0	ROBO3	124252382	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.233000	0.65337	2.518000	0.84900	0.655000	0.94253	CCG		0.617	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	120	6	120	---	---	---	---	A	124747172	C	A	124747172	3	1	73	1	0	0	0	0	1	0	0	0	13515	652	23	1	2887	1	ROBO3	11	124747172	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4738838	124747172	10259344	277	3826										
RPUSD4	84881	broad.mit.edu	37	chr11	126079521	126079521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtggtttccttgtccagcCggtggcacagatgcaagggc	14	11	0	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.chr11:126079521C>A	ENST00000298317.4	-	3	505	c.452G>T	c.(451-453)cGg>cTg	p.R151L	FAM118B_ENST00000360194.4_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000533050.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	151					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|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;0.0761)		CTTGTCCAGCCGGTGGCACAG	0.532																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(451-453)cGg>cTg		RNA pseudouridylate synthase domain containing 4							237	219	225					11																	126079521		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126079521C>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.452G>T	11.37:g.126079521C>A	ENSP00000298317:p.Arg151Leu		Somatic				RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RPUSD4_ENST00000534393.1_5'UTR	p.R151L	NM_032795.2	NP_116184.2	WXS	Illumina GAIIx	Phase_I	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	3	505	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	151					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.452G>T	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564247	0.86335	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.60920	0.15;0.15;0.15	5.33	5.33	0.75918	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, RluC/RluD, conserved site (1);	0.248697	0.39687	N	0.001292	D	0.85982	0.5824	H	0.98507	4.25	0.43579	D	0.995916	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.91569	0.5270	10	0.87932	D	0	-10.8912	18.0365	0.89305	0.0:1.0:0.0:0.0	.	151;151	E9PML2;Q96CM3	.;RUSD4_HUMAN	L	151	ENSP00000298317:R151L;ENSP00000433065:R151L;ENSP00000433709:R151L	ENSP00000298317:R151L	R	-	2	0	RPUSD4	125584731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.911000	0.63328	2.495000	0.84180	0.655000	0.94253	CGG		0.532	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		7	313	7	313	---	---	---	---	A	126079521	C	A	126079521	3	1	73	1	0	0	0	0	1	0	0	0	13669	652	23	1	701	1	RPUSD4	11	126079521	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1332349	126079521	8926995	278	3827										
B4GALNT3	283358	broad.mit.edu	37	chr12	667678	667678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacatctgtccccaggaccCgcacagcatcatcttcctct	5	19	4	0	rs367975617		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.chr12:667678C>A	ENST00000266383.5	+	18	2625	c.2612C>A	c.(2611-2613)cCg>cAg	p.P871Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871					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)			CCCCAGGACCCGCACAGCATC	0.587																																						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.(2611-2613)cCg>cAg		beta-1,4-N-acetyl-galactosaminyl transferase 3							170	148	155					12																	667678		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667678C>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.2612C>A	12.37:g.667678C>A	ENSP00000266383:p.Pro871Gln		Somatic					p.P871Q	NM_173593.3	NP_775864.3	WXS	Illumina GAIIx	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2625	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		871					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2612C>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675877	0.67928	.	.	ENSG00000139044	ENST00000266383	T	0.35236	1.32	4.85	4.85	0.62838	.	0.287438	0.38837	N	0.001554	T	0.58104	0.2099	M	0.64997	1.995	0.42909	D	0.994251	D	0.69078	0.997	D	0.71870	0.975	T	0.60601	-0.7231	10	0.52906	T	0.07	-14.8015	18.3379	0.90295	0.0:1.0:0.0:0.0	.	871	Q6L9W6	B4GN3_HUMAN	Q	871	ENSP00000266383:P871Q	ENSP00000266383:P871Q	P	+	2	0	B4GALNT3	537939	1.000000	0.71417	0.934000	0.37439	0.755000	0.42902	4.813000	0.62620	2.385000	0.81259	0.462000	0.41574	CCG		0.587	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	194	5	194	---	---	---	---	A	667678	C	A	667678	3	1	73	1	0	0	0	0	1	0	0	0	1268	652	23	1	2682	1	B4GALNT3	12	667678	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		667678	133184217	279	3828										
NRIP2	83714	broad.mit.edu	37	chr12	2943848	2943848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcttgaggctgtccagcGggagcaggtcggccgagtcc	16	13	1	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.chr12:2943848G>T	ENST00000337508.4	-	1	342	c.302C>A	c.(301-303)cCg>cAg	p.P101Q		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	101					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)			GCTGTCCAGCGGGAGCAGGTC	0.657																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(301-303)cCg>cAg		nuclear receptor interacting protein 2							63	66	65					12																	2943848		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2943848G>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.302C>A	12.37:g.2943848G>T	ENSP00000337501:p.Pro101Gln		Somatic					p.P101Q	NM_031474.2	NP_113662.1	WXS	Illumina GAIIx	Phase_I	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	342	-			101					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.302C>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945285	0.73672	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.34	3.45	0.39498	.	0.071736	0.56097	D	0.000032	T	0.68201	0.2975	L	0.60455	1.87	0.42479	D	0.992858	D	0.89917	1.0	D	0.91635	0.999	T	0.65965	-0.6040	9	0.35671	T	0.21	-21.6146	9.8362	0.40971	0.1011:0.0:0.8989:0.0	.	101	Q9BQI9	NRIP2_HUMAN	Q	101;90;51;51	.	ENSP00000337501:P101Q	P	-	2	0	NRIP2	2814109	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	8.278000	0.89899	1.057000	0.40506	0.484000	0.47621	CCG		0.657	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		5	128	5	128	---	---	---	---	T	2943848	G	T	2943848	3	4	73	1	0	0	0	0	1	0	0	0	10653	1116	39	1	567	1	NRIP2	12	2943848	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2276170	2943848	130908047	280	3829										
PHC1	1911	broad.mit.edu	37	chr12	9087015	9087015	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaggccatcgtgaagcccCagattctcacccacatcatt	6	16	2	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.chr12:9087015C>A	ENST00000543824.1	+	11	2526	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000433083.2_Missense_Mutation_p.Q687K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	732					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						CGTGAAGCCCCAGATTCTCAC	0.552																																						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.(2059-2061)Cag>Aag		polyhomeotic homolog 1 (Drosophila)							63	62	62					12																	9087015		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087015C>A	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.2194C>A	12.37:g.9087015C>A	ENSP00000440674:p.Gln732Lys		Somatic				PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000543824.1_Missense_Mutation_p.Q732K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K	p.Q687K			WXS	Illumina GAIIx	Phase_I	P78364	PHC1_HUMAN			9	2204	+			732					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2059C>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113999	0.56398	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.62816	0.2459	M	0.75085	2.285	0.54753	D	0.999985	D	0.58268	0.982	P	0.51550	0.673	T	0.66432	-0.5925	10	0.72032	D	0.01	-14.8614	19.6841	0.95974	0.0:1.0:0.0:0.0	.	732	P78364	PHC1_HUMAN	K	732;732;687;732;338	ENSP00000440674:Q732K;ENSP00000251757:Q732K;ENSP00000399194:Q687K;ENSP00000437659:Q732K;ENSP00000440488:Q338K	ENSP00000251757:Q732K	Q	+	1	0	PHC1	8978282	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.529000	0.60588	2.765000	0.95021	0.591000	0.81541	CAG		0.552	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	75	5	75	---	---	---	---	A	9087015	C	A	9087015	3	1	73	1	0	0	0	0	1	0	0	0	11816	595	21	1	2228	1	PHC1	12	9087015	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6143167	9087015	124764880	281	3830										
PZP	5858	broad.mit.edu	37	chr12	9346733	9346733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgaaaactgtgcaagaccCtgctcattggtggttgcatt	10	8	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.chr12:9346733C>A	ENST00000261336.2	-	11	1222	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	398					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						GTGCAAGACCCTGCTCATTGG	0.413																																					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.(1192-1194)caG>caT		pregnancy-zone protein							169	163	165					12																	9346733		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9346733C>A	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.1194G>T	12.37:g.9346733C>A	ENSP00000261336:p.Gln398His		Somatic				PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	p.Q398H	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					11	1222	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1194G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.186124	0.00305	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.33865	1.59;1.39	3.53	-7.07	0.01563	.	1.110920	0.07037	N	0.829486	T	0.09905	0.0243	N	0.01109	-1.01	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.17433	0.018;0.001	T	0.38394	-0.9663	10	0.06365	T	0.9	.	10.8047	0.46509	0.7027:0.1815:0.1157:0.0	.	267;398	P20742-2;P20742	.;PZP_HUMAN	H	398;267	ENSP00000261336:Q398H;ENSP00000371427:Q267H	ENSP00000261336:Q398H	Q	-	3	2	PZP	9238000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.429000	0.01025	-2.094000	0.00854	-1.193000	0.01689	CAG		0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		6	135	6	135	---	---	---	---	A	9346733	C	A	9346733	3	1	73	1	0	0	0	0	1	0	0	0	12869	680	24	1	3358	1	PZP	12	9346733	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	259718	9346733	124505162	282	3831										
LRMP	4033	broad.mit.edu	37	chr12	25243031	25243031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgggatttaagtgtgactGgtttaccttggagaagagag	14	3	0	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.chr12:25243031G>T	ENST00000354454.3	+	13	1335	c.506G>T	c.(505-507)tGg>tTg	p.W169L	LRMP_ENST00000547044.1_Missense_Mutation_p.W169L|LRMP_ENST00000548766.1_Missense_Mutation_p.W169L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	225					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGTGTGACTGGTTTACCTTG	0.398																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(505-507)tGg>tTg		lymphoid-restricted membrane protein							129	131	130					12																	25243031		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25243031G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.506G>T	12.37:g.25243031G>T	ENSP00000346442:p.Trp169Leu		Somatic				LRMP_ENST00000548766.1_Missense_Mutation_p.W169L|LRMP_ENST00000547044.1_Missense_Mutation_p.W169L	p.W169L	NM_006152.3	NP_006143.2	WXS	Illumina GAIIx	Phase_I	Q12912	LRMP_HUMAN			13	1335	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		225					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.506G>T	CCDS8701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.253420|1.253420	0.22965|0.22965	.|.	.|.	ENSG00000118308|ENSG00000118308	ENST00000555885|ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	.|T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.250481	.|0.39341	.|N	.|0.001389	T|T	0.12944|0.12944	0.0314|0.0314	L|L	0.28115|0.28115	0.83|0.83	0.34043|0.34043	D|D	0.655209|0.655209	.|B	.|0.11235	.|0.004	.|B	.|0.17979	.|0.02	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.25751	.|T	.|0.34	-3.247|-3.247	12.4195|12.4195	0.55512|0.55512	0.0:0.0:0.8323:0.1677|0.0:0.0:0.8323:0.1677	.|.	.|225	.|Q12912	.|LRMP_HUMAN	C|L	20|169;116;169;169	.|ENSP00000346442:W169L;ENSP00000444056:W116L;ENSP00000446496:W169L;ENSP00000450246:W169L	.|ENSP00000346442:W169L	G|W	+|+	1|2	0|0	LRMP|LRMP	25134298|25134298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.642000|3.642000	0.54367|0.54367	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.398	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		7	99	7	99	---	---	---	---	T	25243031	G	T	25243031	3	4	73	1	0	0	0	0	1	0	0	0	8950	1357	47	1	540	1	LRMP	12	25243031	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	15896298	25243031	108608864	283	3832										
ITPR2	3709	broad.mit.edu	37	chr12	26816707	26816707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtgcatatctttgatcccCcagatcttcaagtctcagca	8	12	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.chr12:26816707C>A	ENST00000381340.3	-	15	2040	c.1624G>T	c.(1624-1626)Ggg>Tgg	p.G542W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	542					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)	CTTTGATCCCCCAGATCTTCA	0.463																																						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.(1624-1626)Ggg>Tgg		inositol 1,4,5-trisphosphate receptor, type 2							268	263	265					12																	26816707		1881	4122	6003	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.chr12:26816707C>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.1624G>T	12.37:g.26816707C>A	ENSP00000370744:p.Gly542Trp		Somatic					p.G542W	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			15	2040	-	Colorectal(261;0.0847)		542					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1624G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050565	0.75960	.	.	ENSG00000123104	ENST00000381340	D	0.96232	-3.95	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.97061	0.9771	10	0.35671	T	0.21	.	18.2276	0.89923	0.0:1.0:0.0:0.0	.	542	Q14571	ITPR2_HUMAN	W	542	ENSP00000370744:G542W	ENSP00000370744:G542W	G	-	1	0	ITPR2	26707974	0.996000	0.38824	0.948000	0.38648	0.969000	0.65631	4.635000	0.61332	2.596000	0.87737	0.655000	0.94253	GGG		0.463	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		8	337	8	337	---	---	---	---	A	26816707	C	A	26816707	3	1	73	1	0	0	0	0	1	0	0	0	7921	623	22	1	6653	1	ITPR2	12	26816707	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1573676	26816707	107035188	284	3833										
KLHDC5	57542	broad.mit.edu	37	chr12	27950650	27950650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctttctttctttcagacCggaacatgaacattttgcag	7	9	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.chr12:27950650C>A	ENST00000381271.2	+	3	1380	c.1069C>A	c.(1069-1071)Cgg>Agg	p.R357R	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	357					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)											TCTTTCAGACCGGAACATGAA	0.473																																						ENST00000381271.2																			0											c.(1069-1071)Cgg>Agg		kelch-like family member 42							262	250	254					12																	27950650		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27950650C>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.1069C>A	12.37:g.27950650C>A			Somatic					p.R357R	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					3	1380	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.1069C>A	CCDS31763.1																																																																																				0.473	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		7	425	7	425	---	---	---	---	A	27950650	C	A	27950650	2	1	73	1	0	0	0	0	0	0	0	1	8359	643	23	1		1	KLHDC5	12	27950650	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1133943	27950650	105901245	285	3834										
PTHLH	5744	broad.mit.edu	37	chr12	28116547	28116547	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acggggtggttctttgtgttGggagagggcttggagttagg	20	3	1	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.chr12:28116547G>T	ENST00000545234.1	-	5	798	c.258C>A	c.(256-258)ccC>ccA	p.P86P	PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000535992.1_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Silent_p.P86P|PTHLH_ENST00000395872.1_Silent_p.P86P			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	86					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)					TCTTTGTGTTGGGAGAGGGCT	0.512																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(256-258)ccC>ccA		parathyroid hormone-like hormone							181	183	183					12																	28116547		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:28116547G>T		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.258C>A	12.37:g.28116547G>T			Somatic				PTHLH_ENST00000354417.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000545234.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P	p.P86P			WXS	Illumina GAIIx	Phase_I	P12272	PTHR_HUMAN			3	604	-	Lung SC(9;0.184)		86					Q15251|Q6FH74	Silent	SNP	ENST00000545234.1	37	c.258C>A	CCDS44853.1																																																																																				0.512	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		7	207	7	207	---	---	---	---	T	28116547	G	T	28116547	2	4	73	1	0	0	0	0	0	0	0	1	12761	1335	47	1		1	PTHLH	12	28116547	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	165897	28116547	105735348	286	3835										
ALG10B	144245	broad.mit.edu	37	chr12	38712251	38712251	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttttccacaaggtacaaccCagaaacaaggtatgtttcaa	6	10	1	1	rs147946662		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.chr12:38712251C>A	ENST00000308742.4	+	2	676	c.360C>A	c.(358-360)ccC>ccA	p.P120P	ALG10B_ENST00000551464.1_Silent_p.P120P	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	120					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)				AGGTACAACCCAGAAACAAGG	0.333																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(358-360)ccC>ccA		ALG10B, alpha-1,2-glucosyltransferase							164	157	159					12																	38712251		2203	4300	6503	SO:0001819	synonymous_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.chr12:38712251C>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.360C>A	12.37:g.38712251C>A			Somatic				ALG10B_ENST00000551464.1_Silent_p.P120P	p.P120P	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			2	676	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	120					B2RPF4	Silent	SNP	ENST00000308742.4	37	c.360C>A	CCDS31772.1																																																																																				0.333	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		5	127	5	127	---	---	---	---	A	38712251	C	A	38712251	2	1	73	1	0	0	0	0	0	0	0	1	512	581	21	1		1	ALG10B	12	38712251	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10595704	38712251	95139644	287	3836										
FAM113B	91523	broad.mit.edu	37	chr12	47629815	47629815	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccacagcctcctcctccCattctccatcaccagggaat	4	20	2	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.chr12:47629815C>A	ENST00000546455.1	+	4	1700	c.969C>A	c.(967-969)ccC>ccA	p.P323P	PCED1B_ENST00000432328.1_Silent_p.P323P|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	323	Pro-rich.						hydrolase activity (GO:0016787)										ctcctcctcccATTCTCCATC	0.602																																						ENST00000546455.1																			0											c.(967-969)ccC>ccA		PC-esterase domain containing 1B							100	105	104					12																	47629815		2203	4300	6503	SO:0001819	synonymous_variant	91523							g.chr12:47629815C>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.969C>A	12.37:g.47629815C>A			Somatic				PCED1B_ENST00000432328.1_Silent_p.P323P	p.P323P			WXS	Illumina GAIIx	Phase_I					4	1700	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.969C>A	CCDS8752.1																																																																																				0.602	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		7	160	7	160	---	---	---	---	A	47629815	C	A	47629815	2	1	73	1	0	0	0	0	0	0	0	1	5402	581	21	1		1	FAM113B	12	47629815	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8917564	47629815	86222080	288	3837										
DNAJC22	79962	broad.mit.edu	37	chr12	49742879	49742879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccagaggggtgacaccccCtctgagtcccattcgctttg	10	16	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.chr12:49742879C>A	ENST00000549441.2	+	3	1428	c.224C>A	c.(223-225)cCt>cAt	p.P75H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	75						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						GTGACACCCCCTCTGAGTCCC	0.557																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(223-225)cCt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 22							104	115	111					12																	49742879		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742879C>A	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.224C>A	12.37:g.49742879C>A	ENSP00000446830:p.Pro75His		Somatic				DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H	p.P75H			WXS	Illumina GAIIx	Phase_I	Q8N4W6	DJC22_HUMAN			3	1428	+			75					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.224C>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370324	0.61624	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.58210	0.35;0.35	5.16	4.21	0.49690	.	0.162146	0.56097	D	0.000034	T	0.66346	0.2780	L	0.59436	1.845	0.53688	D	0.999978	D	0.89917	1.0	D	0.63957	0.92	T	0.70230	-0.4929	10	0.87932	D	0	-7.748	15.2478	0.73521	0.0:0.8592:0.1408:0.0	.	75	Q8N4W6	DJC22_HUMAN	H	75	ENSP00000446830:P75H;ENSP00000378508:P75H	ENSP00000378508:P75H	P	+	2	0	DNAJC22	48029146	0.171000	0.23029	0.458000	0.27068	0.513000	0.34164	2.765000	0.47621	2.567000	0.86603	0.561000	0.74099	CCT		0.557	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		6	126	6	126	---	---	---	---	A	49742879	C	A	49742879	3	1	73	1	0	0	0	0	1	0	0	0	4641	681	24	1	226	1	DNAJC22	12	49742879	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2113064	49742879	84109016	289	3838										
DAZAP2	9802	broad.mit.edu	37	chr12	51636194	51636194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcctcgtaactcagcggaaGgggaacttcttcatgggtgg	14	9	3	0	rs11555475	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.chr12:51636194G>T	ENST00000412716.3	+	4	1075	c.459G>T	c.(457-459)aaG>aaT	p.K153N	DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGCGGAAGGGGAACTTCT	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(457-459)aaG>aaT		DAZ associated protein 2							240	206	218					12																	51636194		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636194G>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.459G>T	12.37:g.51636194G>T	ENSP00000394699:p.Lys153Asn		Somatic				DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W	p.K153N			WXS	Illumina GAIIx	Phase_I	Q15038	DAZP2_HUMAN			4	1075	+			153					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.459G>T	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.039632|3.039632	0.55003|0.55003	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000549555|ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T|T;T;T;T;T	0.56776|0.60548	0.44|0.18;0.18;0.18;0.18;0.18	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.76838|0.76838	2.35|2.35	0.50813|0.50813	D|D	0.99989|0.99989	D|D;D;D	0.53885|0.69078	0.963|0.997;0.975;0.991	P|D;D;D	0.45195|0.81914	0.473|0.995;0.937;0.987	T|T	0.75909|0.75909	-0.3151|-0.3151	9|10	0.87932|0.66056	D|D	0|0.02	-5.0575|-5.0575	9.9692|9.9692	0.41743|0.41743	0.1585:0.0:0.8415:0.0|0.1585:0.0:0.8415:0.0	.|.	128|121;71;153	F8VU62|C9JP84;C9JA96;Q15038	.|.;.;DAZP2_HUMAN	W|N	128|153;71;121;131;93	ENSP00000448051:G128W|ENSP00000394699:K153N;ENSP00000398804:K71N;ENSP00000446554:K121N;ENSP00000412812:K131N;ENSP00000447842:K93N	ENSP00000448051:G128W|ENSP00000394699:K153N	G|K	+|+	1|3	0|2	DAZAP2|DAZAP2	49922461|49922461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.828000|4.828000	0.62730|0.62730	1.443000|1.443000	0.47586|0.47586	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		9	257	9	257	---	---	---	---	T	51636194	G	T	51636194	3	4	73	1	0	0	0	0	1	0	0	0	4245	1000	35	1	473	1	DAZAP2	12	51636194	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1893315	51636194	82215701	290	3839										
KRT83	3889	broad.mit.edu	37	chr12	52710743	52710743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcagtccatgttcaggtccCggctgttgtccagcttgaca	11	12	1	1	rs369510264		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.chr12:52710743C>A	ENST00000293670.3	-	5	877	c.815G>T	c.(814-816)cGg>cTg	p.R272L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	272	Linker 12.|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)			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)		GTTCAGGTCCCGGCTGTTGTC	0.562																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				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.(814-816)cGg>cTg		keratin 83							160	136	144					12																	52710743		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710743C>A	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.815G>T	12.37:g.52710743C>A	ENSP00000293670:p.Arg272Leu		Somatic					p.R272L	NM_002282.3	NP_002273.3	WXS	Illumina GAIIx	Phase_I	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	877	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		272			Linker 12.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.815G>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157368	0.94686	.	.	ENSG00000170523	ENST00000293670	T	0.77358	-1.09	3.9	3.9	0.45041	Filament (1);	0.000000	0.37577	U	0.002039	D	0.87442	0.6178	M	0.82630	2.6	0.49051	D	0.999749	P	0.49559	0.925	P	0.60682	0.878	D	0.90171	0.4235	10	0.87932	D	0	.	16.2457	0.82445	0.0:1.0:0.0:0.0	.	272	P78385	KRT83_HUMAN	L	272	ENSP00000293670:R272L	ENSP00000293670:R272L	R	-	2	0	KRT83	50997010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	1.894000	0.54839	0.561000	0.74099	CGG		0.562	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	149	5	149	---	---	---	---	A	52710743	C	A	52710743	3	1	73	1	0	0	0	0	1	0	0	0	8497	652	23	1	686	1	KRT83	12	52710743	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1074549	52710743	81141152	291	3840										
IL23A	51561	broad.mit.edu	37	chr12	56733285	56733285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggagatggctgtgaccccCaaggactcagggacaacagt	14	10	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.chr12:56733285C>A	ENST00000228534.4	+	2	404	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	80					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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 inflammatory response (GO:0050729)|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 memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|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 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 transcription from RNA polymerase II promoter (GO:0045944)|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 tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGTGACCCCCAAGGACTCAG	0.507																																						ENST00000228534.4																			0				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(238-240)Caa>Aaa		interleukin 23, alpha subunit p19							90	76	80					12																	56733285		2203	4300	6503	SO:0001583	missense	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|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 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 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 virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733285C>A	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"Interleukins and interleukin receptors"	15488	protein-coding gene	gene with protein product	"interleukin-six, G-CSF related factor"	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.238C>A	12.37:g.56733285C>A	ENSP00000228534:p.Gln80Lys		Somatic					p.Q80K	NM_016584.2	NP_057668.1	WXS	Illumina GAIIx	Phase_I	Q9NPF7	IL23A_HUMAN			2	404	+			80					Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	ENST00000228534.4	37	c.238C>A	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329648	0.41297	.	.	ENSG00000110944	ENST00000228534	T	0.30714	1.52	5.73	2.77	0.32553	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.344601	0.25222	N	0.032238	T	0.21718	0.0523	L	0.34521	1.04	0.34771	D	0.733746	B	0.06786	0.001	B	0.06405	0.002	T	0.24225	-1.0166	10	0.72032	D	0.01	-4.7723	8.5169	0.33250	0.1626:0.5229:0.3145:0.0	.	80	Q9NPF7	IL23A_HUMAN	K	80	ENSP00000228534:Q80K	ENSP00000228534:Q80K	Q	+	1	0	IL23A	55019552	0.373000	0.25073	0.990000	0.47175	0.976000	0.68499	0.420000	0.21263	1.565000	0.49641	0.655000	0.94253	CAA		0.507	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584		4	35	4	35	---	---	---	---	A	56733285	C	A	56733285	3	1	73	1	0	0	0	0	1	0	0	0	7675	595	21	1	244	1	IL23A	12	56733285	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4022542	56733285	77118610	292	3841										
GLI1	2735	broad.mit.edu	37	chr12	57857845	57857845	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggcccccacagttatgggcCagccagagagaccaacagct	11	15	0	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.chr12:57857845C>A	ENST00000228682.2	+	3	255	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	55					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)			AGTTATGGGCCAGCCAGAGAG	0.567																																					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.(163-165)cCa>cAa		GLI family zinc finger 1							141	134	136					12																	57857845		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.chr12:57857845C>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.164C>A	12.37:g.57857845C>A	ENSP00000228682:p.Pro55Gln		Somatic				GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	p.P55Q	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	255	+			55					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.164C>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370451	0.42003	.	.	ENSG00000111087	ENST00000228682;ENST00000544736;ENST00000528432	T	0.11930	2.73	4.28	4.28	0.50868	.	0.548633	0.16565	N	0.208894	T	0.06462	0.0166	N	0.04508	-0.205	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.33266	-0.9875	10	0.13853	T	0.58	.	12.4233	0.55532	0.0:1.0:0.0:0.0	.	55	P08151	GLI1_HUMAN	Q	55;9;55	ENSP00000228682:P55Q	ENSP00000228682:P55Q	P	+	2	0	GLI1	56144112	0.557000	0.26546	0.978000	0.43139	0.997000	0.91878	1.832000	0.39151	2.380000	0.81148	0.555000	0.69702	CCA		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		6	186	6	186	---	---	---	---	A	57857845	C	A	57857845	3	1	73	1	0	0	0	0	1	0	0	0	6437	594	21	1	170	1	GLI1	12	57857845	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1124560	57857845	75994050	293	3842										
MBD6	114785	broad.mit.edu	37	chr12	57920645	57920645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggaggaggacaacctcccCctgagcccctgctaccccca	11	18	0	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.chr12:57920645C>A	ENST00000355673.3	+	7	2073	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	573	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						ACAACCTCCCCCTGAGCCCCT	0.622																																						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.(1717-1719)Cct>Act		methyl-CpG binding domain protein 6							77	71	73					12																	57920645		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920645C>A	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.1717C>A	12.37:g.57920645C>A	ENSP00000347896:p.Pro573Thr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	p.P573T	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			7	2073	+			573			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1717C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491324	0.26774	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.07	4.07	0.47477	.	0.155551	0.28414	N	0.015423	T	0.44244	0.1284	N	0.08118	0	0.33530	D	0.593553	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.905	T	0.55114	-0.8191	9	0.42905	T	0.14	-4.7894	9.3801	0.38309	0.0:0.8987:0.0:0.1013	.	573;573	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	573;573;37	.	ENSP00000300263:P37T	P	+	1	0	MBD6	56206912	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.995000	0.40767	2.283000	0.76528	0.561000	0.74099	CCT		0.622	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			5	64	5	64	---	---	---	---	A	57920645	C	A	57920645	3	1	73	1	0	0	0	0	1	0	0	0	9348	623	22	1	1735	1	MBD6	12	57920645	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	62800	57920645	75931250	294	3843										
AVPR1A	552	broad.mit.edu	37	chr12	63543872	63543872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggcgcgacgccgtcttccCgcggacgttgcaccagatgt	13	15	1	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.chr12:63543872C>A	ENST00000299178.2	-	1	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					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.G249W(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)	GCCGTCTTCCCGCGGACGTTG	0.612																																						ENST00000299178.2																			1	Substitution - Missense(1)	p.G249W(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(745-747)Ggg>Tgg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						90	91	91					12																	63543872		2203	4300	6503	SO:0001583	missense	552				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.chr12:63543872C>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.745G>T	12.37:g.63543872C>A	ENSP00000299178:p.Gly249Trp		Somatic					p.G249W	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	850	-			249						Missense_Mutation	SNP	ENST00000299178.2	37	c.745G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361560	0.41801	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.72167	-0.63;-0.63	5.29	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.283855	0.39274	N	0.001414	T	0.80565	0.4647	M	0.76838	2.35	0.35538	D	0.802787	D	0.61080	0.989	D	0.65573	0.936	D	0.84518	0.0626	9	.	.	.	-7.8536	8.0839	0.30760	0.1559:0.7631:0.0:0.081	.	249	P37288	V1AR_HUMAN	W	30;249	ENSP00000449822:G30W;ENSP00000299178:G249W	.	G	-	1	0	AVPR1A	61830139	0.014000	0.17966	0.765000	0.31456	0.955000	0.61496	1.617000	0.36943	1.237000	0.43756	-0.380000	0.06706	GGG		0.612	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			5	143	5	143	---	---	---	---	A	63543872	C	A	63543872	3	1	73	1	0	0	0	0	1	0	0	0	1231	652	23	1	519	1	AVPR1A	12	63543872	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5623227	63543872	70308023	295	3844										
XPOT	11260	broad.mit.edu	37	chr12	64819661	64819661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcggagcaggacggcttacCtgttttctagatttgtcaaa	10	8	2	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.chr12:64819661C>A	ENST00000332707.5	+	15	2168	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	547	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GACGGCTTACCTGTTTTCTAG	0.348																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1639-1641)Ctg>Atg		exportin, tRNA							135	145	141					12																	64819661		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64819661C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1639C>A	12.37:g.64819661C>A	ENSP00000327821:p.Leu547Met		Somatic					p.L547M	NM_007235.4	NP_009166.2	WXS	Illumina GAIIx	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	15	2168	+			547			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1639C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714533	0.68730	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.69306	-0.39;-0.39	4.35	2.51	0.30379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.78336	0.4267	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.77517	-0.2558	9	.	.	.	.	10.4929	0.44760	0.0:0.8388:0.0:0.1612	.	547	O43592	XPOT_HUMAN	M	547;69	ENSP00000327821:L547M;ENSP00000444345:L69M	.	L	+	1	2	XPOT	63105928	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.932000	0.48940	0.557000	0.29117	0.591000	0.81541	CTG		0.348	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		10	244	10	244	---	---	---	---	A	64819661	C	A	64819661	3	1	73	1	0	0	0	0	1	0	0	0	17447	680	24	1	1693	1	XPOT	12	64819661	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1275789	64819661	69032234	296	3845										
ANKS1B	56899	broad.mit.edu	37	chr12	99145222	99145222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagtgtggaggagtgtccccCttttcttgcttgtagtgcta	12	8	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.chr12:99145222C>A	ENST00000547776.2	-	25	3582	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					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)		GAGTGTCCCCCTTTTCTTGCT	0.473																																						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.(3583-3585)Ggg>Tgg		ankyrin repeat and sterile alpha motif domain containing 1B							169	171	170					12																	99145222		1891	4106	5997	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145222C>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.3583G>T	12.37:g.99145222C>A	ENSP00000449629:p.Gly1195Trp		Somatic				ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W	p.G1195W	NM_152788.4	NP_690001.3	WXS	Illumina GAIIx	Phase_I	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	25	3582	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1195			PID.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.3583G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025484|4.025484	0.75390|0.75390	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.71579|0.65916	-0.22;-0.21;0.92;0.14;0.92;-0.16;0.41;-0.17;-0.58;-0.15;-0.17;0.17;-0.21|-0.18	5.08|5.08	5.08|5.08	0.68730|0.68730	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);|.	0.075918|.	0.52532|.	D|.	0.000061|.	T|T	0.54822|0.54822	0.1882|0.1882	N|N	0.14661|0.14661	0.345|0.345	0.37909|0.37909	D|D	0.931301|0.931301	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.985;1.0;0.999;0.983;0.999;1.0;0.99;0.983;0.999;0.99;1.0;1.0;0.99|.	P;D;D;P;D;D;D;D;D;D;D;D;D|.	0.79108|.	0.833;0.987;0.972;0.831;0.98;0.981;0.915;0.915;0.98;0.942;0.992;0.987;0.942|.	T|T	0.56523|0.56523	-0.7965|-0.7965	10|6	0.87932|.	D|.	0|.	-7.3655|-7.3655	18.4626|18.4626	0.90745|0.90745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	330;225;225;421;385;335;409;361;445;293;711;1195;361|.	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	W|N	201;361;1195;711;1195;710;385;293;445;330;225;361;385;286;421|466	ENSP00000345510:G201W;ENSP00000448993:G361W;ENSP00000449629:G1195W;ENSP00000448512:G711W;ENSP00000331381:G1195W;ENSP00000447999:G385W;ENSP00000447312:G293W;ENSP00000448203:G445W;ENSP00000450015:G330W;ENSP00000331256:G225W;ENSP00000448205:G361W;ENSP00000332683:G385W;ENSP00000447839:G421W|ENSP00000448744:K466N	ENSP00000331381:G1195W|.	G|K	-|-	1|3	0|2	ANKS1B|ANKS1B	97669353|97669353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.454000|4.454000	0.60068|0.60068	2.368000|2.368000	0.80403|0.80403	0.561000|0.561000	0.74099|0.74099	GGG|AAG		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		6	122	6	122	---	---	---	---	A	99145222	C	A	99145222	3	1	73	1	0	0	0	0	1	0	0	0	689	681	24	1	286	1	ANKS1B	12	99145222	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	34325561	99145222	34706673	297	3846										
STAB2	55576	broad.mit.edu	37	chr12	104107524	104107524	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgtgcaaagcaggctacacGggtgatggcattgtgtgcct	14	9	0	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.chr12:104107524G>T	ENST00000388887.2	+	42	4719	c.4515G>T	c.(4513-4515)acG>acT	p.T1505T		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						CAGGCTACACGGGTGATGGCA	0.527																																						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.(4513-4515)acG>acT		stabilin 2							297	265	276					12																	104107524		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.chr12:104107524G>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.4515G>T	12.37:g.104107524G>T			Somatic					p.T1505T	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			42	4719	+			1505			EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4515G>T	CCDS31888.1																																																																																				0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	240	7	240	---	---	---	---	T	104107524	G	T	104107524	2	4	73	1	0	0	0	0	0	0	0	1	15237	1103	39	1		1	STAB2	12	104107524	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	4962302	104107524	29744371	298	3847										
RFX4	5992	broad.mit.edu	37	chr12	107144484	107144484	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaaccagcatcctcacccCatgcagagccagtatccggc	9	17	1	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.chr12:107144484C>A	ENST00000392842.1	+	17	2262	c.1848C>A	c.(1846-1848)ccC>ccA	p.P616P	RFX4_ENST00000229387.5_Silent_p.P522P|RFX4_ENST00000357881.4_Silent_p.P625P|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	616					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.P616P(1)|p.P625P(1)|p.P522P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCCTCACCCCATGCAGAGCC	0.507																																						ENST00000392842.1																			3	Substitution - coding silent(3)	p.P616P(1)|p.P625P(1)|p.P522P(1)	lung(3)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1846-1848)ccC>ccA		regulatory factor X, 4 (influences HLA class II expression)							207	194	198					12																	107144484		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107144484C>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.1848C>A	12.37:g.107144484C>A			Somatic				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P625P|RFX4_ENST00000229387.5_Silent_p.P522P	p.P616P	NM_213594.2	NP_998759.1	WXS	Illumina GAIIx	Phase_I	Q33E94	RFX4_HUMAN			17	2262	+			616					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1848C>A	CCDS9106.1																																																																																				0.507	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	209	7	209	---	---	---	---	A	107144484	C	A	107144484	2	1	73	1	0	0	0	0	0	0	0	1	13265	581	21	1		1	RFX4	12	107144484	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3036960	107144484	26707411	299	3848										
C12orf23	90488	broad.mit.edu	37	chr12	107365136	107365136	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgttgtaaacaaagtgccCttaacaggaaagaagaaaga	10	6	0	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.chr12:107365136C>A	ENST00000280756.4	+	4	736	c.318C>A	c.(316-318)ccC>ccA	p.P106P	C12orf23_ENST00000547081.1_Silent_p.P106P|C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P	NM_152261.2	NP_689474.1	Q8WUH6	TM263_HUMAN		106						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)	3						ACAAAGTGCCCTTAACAGGAA	0.463																																						ENST00000280756.4																			0				endometrium(1)|lung(2)	3						c.(316-318)ccC>ccA		chromosome 12 open reading frame 23							99	85	90					12																	107365136		2203	4300	6503	SO:0001819	synonymous_variant	90488					integral to membrane		g.chr12:107365136C>A																												ENST00000280756.4:c.318C>A	12.37:g.107365136C>A			Somatic				C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000547081.1_Silent_p.P106P	p.P106P	NM_152261.2	NP_689474.1	WXS	Illumina GAIIx	Phase_I	Q8WUH6	CL023_HUMAN			4	736	+			106					B3KMN9	Silent	SNP	ENST00000280756.4	37	c.318C>A	CCDS9110.1																																																																																				0.463	C12orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406857.1			5	76	5	76	---	---	---	---	A	107365136	C	A	107365136	2	1	73	1	0	0	0	0	0	0	0	1	1677	668	24	1		1	C12orf23	12	107365136	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	220652	107365136	26486759	300	3849										
CRY1	1407	broad.mit.edu	37	chr12	107391132	107391132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccatgaagcctccattccCattaggattagaaggtactg	8	11	0	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.chr12:107391132C>A	ENST00000008527.5	-	10	2392	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	509					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|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 DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.G509W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTCCATTCCCATTAGGATTA	0.343																																						ENST00000008527.5																			1	Substitution - Missense(1)	p.G509W(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(1525-1527)Ggg>Tgg		cryptochrome 1 (photolyase-like)							141	146	145					12																	107391132		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107391132C>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1525G>T	12.37:g.107391132C>A	ENSP00000008527:p.Gly509Trp		Somatic					p.G509W	NM_004075.4	NP_004066.1	WXS	Illumina GAIIx	Phase_I	Q16526	CRY1_HUMAN			10	2392	-			509						Missense_Mutation	SNP	ENST00000008527.5	37	c.1525G>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192384	0.58017	.	.	ENSG00000008405	ENST00000008527;ENST00000319645;ENST00000549356	.	.	.	5.79	5.79	0.91817	.	0.095180	0.64402	D	0.000001	T	0.67353	0.2884	L	0.60455	1.87	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.63743	-0.6568	9	0.87932	D	0	-14.3561	19.6321	0.95713	0.0:1.0:0.0:0.0	.	509	Q16526	CRY1_HUMAN	W	509;116;29	.	ENSP00000008527:G509W	G	-	1	0	CRY1	105915262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.990000	0.76225	2.734000	0.93682	0.655000	0.94253	GGG		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		7	221	7	221	---	---	---	---	A	107391132	C	A	107391132	3	1	73	1	0	0	0	0	1	0	0	0	3903	594	21	1	247	1	CRY1	12	107391132	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	25996	107391132	26460763	301	3850										
CMKLR1	1240	broad.mit.edu	37	chr12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcaaagcatgccggtctccCtctcattcatagaagtcctc	6	14	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.chr12:108685637C>A	ENST00000312143.7	-	3	1466	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					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)	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478																																						ENST00000312143.7																			1	Substitution - Missense(1)	p.R366M(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(1102-1104)aGg>aTg		chemokine-like receptor 1							126	130	129					12																	108685637		1929	4133	6062	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.chr12:108685637C>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.1103G>T	12.37:g.108685637C>A	ENSP00000311733:p.Arg368Met		Somatic				CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	p.R368M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	WXS	Illumina GAIIx	Phase_I	Q99788	CML1_HUMAN			3	1466	-			368					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.1103G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671741	0.14776	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.70282	-0.47;-0.47;-0.46;-0.46;-0.47	5.18	-1.29	0.09288	.	1.299820	0.05594	U	0.575125	T	0.54159	0.1841	N	0.08118	0	0.21933	N	0.99947	P	0.39576	0.679	B	0.41723	0.365	T	0.50092	-0.8868	10	0.49607	T	0.09	.	10.275	0.43504	0.0:0.3634:0.0:0.6366	.	368	Q99788	CML1_HUMAN	M	368;368;366;366;368	ENSP00000311733:R368M;ENSP00000401293:R368M;ENSP00000380803:R366M;ENSP00000447579:R366M;ENSP00000449716:R368M	ENSP00000311733:R368M	R	-	2	0	CMKLR1	107209767	0.059000	0.20769	0.733000	0.30861	0.047000	0.14425	-0.024000	0.12435	-0.657000	0.05373	-0.265000	0.10407	AGG		0.478	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			6	114	6	114	---	---	---	---	A	108685637	C	A	108685637	3	1	73	1	0	0	0	0	1	0	0	0	3579	681	24	1	22	1	CMKLR1	12	108685637	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1294505	108685637	25166258	302	3851										
ATXN2	6311	broad.mit.edu	37	chr12	111893853	111893853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaggtacgtgggccatgtGgggtgggttggtatacgccg	19	7	0	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.chr12:111893853G>T	ENST00000377617.3	-	23	3885	c.3724C>A	c.(3724-3726)Cac>Aac	p.H1242N	ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1242					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						TGGGCCATGTGGGGTGGGTTG	0.512																																						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.(3724-3726)Cac>Aac		ataxin 2							310	279	290					12																	111893853		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.chr12:111893853G>T	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.3724C>A	12.37:g.111893853G>T	ENSP00000366843:p.His1242Asn		Somatic				ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	p.H1242N	NM_002973.3	NP_002964.3	WXS	Illumina GAIIx	Phase_I	Q99700	ATX2_HUMAN			23	3885	-			1242					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3724C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790549	0.90367	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.63913	-0.07	5.59	5.59	0.84812	.	0.047328	0.85682	D	0.000000	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;P;P;D;D	0.71674	0.983;0.92;0.707;0.998;0.996	P;B;B;D;D	0.79784	0.689;0.355;0.202;0.993;0.986	T	0.64715	-0.6342	10	0.27785	T	0.31	-10.526	19.9595	0.97236	0.0:0.0:1.0:0.0	.	243;1242;935;977;979	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	N	297;979;1242;243;977;935;167	ENSP00000366843:H1242N	ENSP00000366843:H1242N	H	-	1	0	ATXN2	110378236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.974000	0.93433	2.797000	0.96272	0.563000	0.77884	CAC		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		7	232	7	232	---	---	---	---	T	111893853	G	T	111893853	3	4	73	1	0	0	0	0	1	0	0	0	1211	1348	47	1	229	1	ATXN2	12	111893853	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3208216	111893853	21958042	303	3852										
MED13L	23389	broad.mit.edu	37	chr12	116435003	116435003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgctgttccaaagatggtgGagtgggaaacatcctttgca	12	7	0	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.chr12:116435003G>T	ENST00000281928.3	-	15	2808	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868						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)		AAAGATGGTGGAGTGGGAAAC	0.398																																						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.(2602-2604)Cca>Aca		mediator complex subunit 13-like							92	87	88					12																	116435003		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116435003G>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.2602C>A	12.37:g.116435003G>T	ENSP00000281928:p.Pro868Thr		Somatic					p.P868T	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	15	2808	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		868					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2602C>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833607	0.71258	.	.	ENSG00000123066	ENST00000281928	D	0.95656	-3.77	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98304	1.0520	10	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	868	Q71F56	MD13L_HUMAN	T	868	ENSP00000281928:P868T	ENSP00000281928:P868T	P	-	1	0	MED13L	114919386	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	9.230000	0.95299	2.665000	0.90641	0.467000	0.42956	CCA		0.398	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	91	6	91	---	---	---	---	T	116435003	G	T	116435003	3	4	73	1	0	0	0	0	1	0	0	0	9431	1174	41	3	4098	3	MED13L	12	116435003	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	4541150	116435003	17416892	304	3853										
UNC119B	84747	broad.mit.edu	37	chr12	121154520	121154520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttcacaccggcatttctcCgcctccggacagtcggggct	11	15	2	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.chr12:121154520C>A	ENST00000344651.4	+	3	488	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	150					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)					GGCATTTCTCCGCCTCCGGAC	0.537																																						ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(448-450)Cgc>Agc		unc-119 homolog B (C. elegans)							220	202	208					12																	121154520		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121154520C>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.448C>A	12.37:g.121154520C>A	ENSP00000344942:p.Arg150Ser		Somatic					p.R150S	NM_001080533.1	NP_001074002.1	WXS	Illumina GAIIx	Phase_I	A6NIH7	U119B_HUMAN			3	488	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		150						Missense_Mutation	SNP	ENST00000344651.4	37	c.448C>A	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133815	0.77662	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	5.82	0.92795	Immunoglobulin E-set (1);	0.105411	0.64402	D	0.000010	T	0.62974	0.2472	M	0.73598	2.24	0.45452	D	0.99842	B	0.30709	0.291	B	0.26416	0.069	T	0.65425	-0.6171	9	0.72032	D	0.01	-16.5362	14.8846	0.70557	0.1433:0.8567:0.0:0.0	.	150	A6NIH7	U119B_HUMAN	S	150	.	ENSP00000344942:R150S	R	+	1	0	UNC119B	119638903	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.824000	0.39072	2.752000	0.94435	0.655000	0.94253	CGC		0.537	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		6	198	6	198	---	---	---	---	A	121154520	C	A	121154520	3	1	73	1	0	0	0	0	1	0	0	0	16980	652	23	1	458	1	UNC119B	12	121154520	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4719517	121154520	12697375	305	3854										
TCTN2	79867	broad.mit.edu	37	chr12	124171483	124171483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatcagctctgctctgctgGgacgacgacacgtggtgtcc	13	12	3	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.chr12:124171483G>T	ENST00000303372.5	+	6	793	c.665G>T	c.(664-666)gGg>gTg	p.G222V	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					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)		TGCTCTGCTGGGACGACGACA	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.(664-666)gGg>gTg		tectonic family member 2							308	262	277					12																	124171483		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171483G>T	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.665G>T	12.37:g.124171483G>T	ENSP00000304941:p.Gly222Val		Somatic				TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	p.G222V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	793	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.665G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322306	0.23994	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81996	-1.56;-1.56	5.65	-7.36	0.01417	Domain of unknown function DUF1619 (1);	.	.	.	.	T	0.60741	0.2292	N	0.08118	0	0.09310	N	1	B;B	0.32010	0.351;0.351	B;B	0.33254	0.16;0.16	T	0.53753	-0.8394	9	0.27785	T	0.31	-30.2839	8.1366	0.31058	0.5189:0.2647:0.2164:0.0	.	221;222	A8K7Y8;Q96GX1	.;TECT2_HUMAN	V	221;222	ENSP00000395171:G221V;ENSP00000304941:G222V	ENSP00000304941:G222V	G	+	2	0	TCTN2	122737436	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.306000	0.33505	-0.914000	0.03827	-0.842000	0.03052	GGG		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		9	277	9	277	---	---	---	---	T	124171483	G	T	124171483	3	4	73	1	0	0	0	0	1	0	0	0	15720	1232	43	1	687	1	TCTN2	12	124171483	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3016963	124171483	9680412	306	3855										
FLT3	2322	broad.mit.edu	37	chr13	28610092	28610092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggagacttgtctgaacaCttcttccaggtccaagatgg	11	9	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.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			Somatic				FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K	p.K466K			WXS	Illumina GAIIx	Phase_I	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	8	296	---	---	---	---	T	28610092	C	T	28610092	2	4	73	1	0	0	0	0	0	0	0	1	5942	564	20	2		2	FLT3	13	28610092	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		28610092	86559786	307	3856										
PAN3	255967	broad.mit.edu	37	chr13	28840863	28840863	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttactctagcagttcctacaGaggttgacagctaccatagc	8	11	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.chr13:28840863G>T	ENST00000380958.3	+	10	1575	c.1423G>T	c.(1423-1425)Gag>Tag	p.E475*	PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000399613.1_Nonsense_Mutation_p.E275*	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)		AGTTCCTACAGAGGTTGACAG	0.358																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(823-825)Gag>Tag		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							107	109	108					13																	28840863		2203	4300	6503	SO:0001587	stop_gained	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28840863G>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.1423G>T	13.37:g.28840863G>T	ENSP00000370345:p.Glu475*		Somatic				PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000380958.3_Nonsense_Mutation_p.E475*	p.E275*			WXS	Illumina GAIIx	Phase_I	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)	9	886	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	475			Interaction with polyadenylate-binding protein.			Nonsense_Mutation	SNP	ENST00000380958.3	37	c.823G>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	37	6.053258	0.97241	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-17.2065	19.1991	0.93704	0.0:0.0:1.0:0.0	.	.	.	.	X	475;275;163	.	ENSP00000282391:E163X	E	+	1	0	PAN3	27738863	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	9.804000	0.99143	2.529000	0.85273	0.650000	0.86243	GAG		0.358	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		8	224	8	224	---	---	---	---	T	28840863	G	T	28840863	4	4	73	1	0	0	0	0	0	1	0	0	11415	943	33	3	1461	3	PAN3	13	28840863	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	230771	28840863	86329015	308	3857										
DCLK1	9201	broad.mit.edu	37	chr13	36396952	36396952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctaggttgtacagcatccCactggcgtctctctcggtgt	12	12	2	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.chr13:36396952C>A	ENST00000360631.3	-	11	1679	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	DCLK1_ENST00000255448.4_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	490	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)		TACAGCATCCCACTGGCGTCT	0.493																																						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.(1468-1470)Ggg>Tgg		doublecortin-like kinase 1							224	189	201					13																	36396952		2203	4300	6503	SO:0001583	missense	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.chr13:36396952C>A	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.1468G>T	13.37:g.36396952C>A	ENSP00000353846:p.Gly490Trp		Somatic				DCLK1_ENST00000360631.3_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W	p.G490W	NM_004734.4	NP_004725.1	WXS	Illumina GAIIx	Phase_I	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)	11	1679	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	490			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1468G>T		.	.	.	.	.	.	.	.	.	.	C	19.48	3.834947	0.71373	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	T;T;T	0.65549	-0.16;-0.16;-0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	N	0.26042	0.785	0.80722	D	1	D;D;D	0.61697	0.966;0.99;0.98	P;P;P	0.58013	0.753;0.831;0.753	T	0.66881	-0.5811	10	0.48119	T	0.1	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	183;490;183	O15075-4;O15075-2;O15075-3	.;.;.	W	182;490;490;183	ENSP00000255448:G490W;ENSP00000353846:G490W;ENSP00000369223:G183W	ENSP00000255448:G490W	G	-	1	0	DCLK1	35294952	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.065000	0.71176	2.779000	0.95612	0.655000	0.94253	GGG		0.493	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		8	125	8	125	---	---	---	---	A	36396952	C	A	36396952	3	1	73	1	0	0	0	0	1	0	0	0	4291	594	21	1	753	1	DCLK1	13	36396952	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7556089	36396952	78772926	309	3858										
UTP14C	9724	broad.mit.edu	37	chr13	52603844	52603844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccttaagcaccaaaacagtGggaaatgggccaagtcaaag	11	9	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.chr13:52603844G>T	ENST00000521776.2	+	2	1637	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	302					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)		CCAAAACAGTGGGAAATGGGC	0.443																																						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.(904-906)Ggg>Tgg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							140	143	142					13																	52603844		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603844G>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.904G>T	13.37:g.52603844G>T	ENSP00000428619:p.Gly302Trp		Somatic					p.G302W	NM_021645.5	NP_067677.4	WXS	Illumina GAIIx	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1637	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	302					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.904G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187986	0.57909	.	.	ENSG00000253797	ENST00000521776	T	0.24151	1.87	2.58	2.58	0.30949	.	0.045227	0.85682	D	0.000000	T	0.55305	0.1912	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64635	-0.6361	9	.	.	.	-31.1538	10.8649	0.46849	0.0:0.0:1.0:0.0	.	302	Q5TAP6	UT14C_HUMAN	W	302	ENSP00000428619:G302W	.	G	+	1	0	UTP14C	51501845	1.000000	0.71417	0.938000	0.37757	0.879000	0.50718	3.428000	0.52792	1.460000	0.47911	0.448000	0.29417	GGG		0.443	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		6	120	6	120	---	---	---	---	T	52603844	G	T	52603844	3	4	73	1	0	0	0	0	1	0	0	0	17093	1348	47	1	906	1	UTP14C	13	52603844	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	16206892	52603844	62566034	310	3859										
SUGT1	10910	broad.mit.edu	37	chr13	53227224	53227224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctaatcgacgaggaccccCaggcggcgttagaggtgaga	14	12	0	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.chr13:53227224C>A	ENST00000343788.6	+	2	164	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q28K	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	28					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		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;3.25e-08)		CGAGGACCCCCAGGCGGCGTT	0.582											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310528.8																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(82-84)Cag>Aag		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							108	117	114					13																	53227224		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53227224C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.82C>A	13.37:g.53227224C>A	ENSP00000367208:p.Gln28Lys		Somatic	OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q28K	p.Q28K			WXS	Illumina GAIIx	Phase_I	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	2	137	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.82C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098708	0.37048	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.57595	0.39;0.39	3.16	2.26	0.28386	Tetratricopeptide-like helical (1);	0.488364	0.20836	N	0.084792	T	0.30978	0.0782	N	0.17838	0.53	0.80722	D	1	B;B	0.23990	0.095;0.007	B;B	0.20955	0.032;0.005	T	0.04991	-1.0913	10	0.18710	T	0.47	-4.0273	7.3415	0.26640	0.2614:0.7386:0.0:0.0	.	28;28	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	28	ENSP00000367208:Q28K;ENSP00000308067:Q28K	ENSP00000308067:Q28K	Q	+	1	0	SUGT1	52125225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.938000	0.40203	0.827000	0.34685	0.467000	0.42956	CAG		0.582	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			6	180	6	180	---	---	---	---	A	53227224	C	A	53227224	3	1	73	1	0	0	0	0	1	0	0	0	15368	595	21	1	88	1	SUGT1	13	53227224	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	623380	53227224	61942654	311	3860										
LMO7	4008	broad.mit.edu	37	chr13	76415828	76415828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagccctctcttgccacctGggaagctacctggagtgaag	13	12	1	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.chr13:76415828G>T	ENST00000321797.8	+	22	3762	c.3041G>T	c.(3040-3042)tGg>tTg	p.W1014L	LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000357063.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L|LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1299					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)		CTTGCCACCTGGGAAGCTACC	0.507																																						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.(3895-3897)tGg>tTg		LIM domain 7							93	94	94					13																	76415828		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76415828G>T	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.3041G>T	13.37:g.76415828G>T	ENSP00000317802:p.Trp1014Leu		Somatic				LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L|LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000321797.8_Missense_Mutation_p.W1014L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L	p.W1299L			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	5156	+		Breast(118;0.0992)	1299					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3896G>T		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291537	0.23564	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.42513	1.55;1.55;1.54;0.97;0.99;0.99;0.98	5.7	3.81	0.43845	.	0.596299	0.20302	N	0.095002	T	0.39384	0.1076	M	0.63843	1.955	0.26570	N	0.973586	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.004;0.003;0.002;0.006	T	0.25813	-1.0121	10	0.27785	T	0.31	-2.5371	11.8072	0.52163	0.0:0.0:0.6509:0.3491	.	891;965;1299;1014;1247	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	L	965;1299;1299;913;1014;891;1014	ENSP00000342112:W965L;ENSP00000349571:W1299L;ENSP00000366757:W1299L;ENSP00000366719:W913L;ENSP00000317802:W1014L;ENSP00000431129:W891L;ENSP00000433352:W1014L	ENSP00000317802:W1014L	W	+	2	0	LMO7	75313829	0.997000	0.39634	0.868000	0.34077	0.177000	0.22998	1.319000	0.33655	1.339000	0.45563	0.655000	0.94253	TGG		0.507	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		6	151	6	151	---	---	---	---	T	76415828	G	T	76415828	3	4	73	1	0	0	0	0	1	0	0	0	8855	1357	47	1	3994	1	LMO7	13	76415828	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	23188604	76415828	38754050	312	3861										
OR11H4	390442	broad.mit.edu	37	chr14	20711366	20711366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atacctggccatctgccaccCactgcagtaccctgccatca	6	18	2	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.chr14:20711366C>A	ENST00000315409.2	+	1	469	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	139						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)		ATCTGCCACCCACTGCAGTAC	0.463																																						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.(415-417)cCa>cAa		olfactory receptor, family 11, subfamily H, member 4							154	147	149					14																	20711366		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711366C>A		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.416C>A	14.37:g.20711366C>A	ENSP00000318997:p.Pro139Gln		Somatic					p.P139Q	NM_001004479.1	NP_001004479.1	WXS	Illumina GAIIx	Phase_I	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	469	+	all_cancers(95;0.000888)		139					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.416C>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032050	0.75504	.	.	ENSG00000176198	ENST00000315409	T	0.01902	4.57	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.24353	0.0590	H	0.98426	4.23	0.47476	D	0.999436	D	0.89917	1.0	D	0.91635	0.999	T	0.46233	-0.9206	10	0.87932	D	0	-8.8066	15.2747	0.73732	0.0:1.0:0.0:0.0	.	139	Q8NGC9	O11H4_HUMAN	Q	139	ENSP00000318997:P139Q	ENSP00000318997:P139Q	P	+	2	0	OR11H4	19781206	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.511000	0.81718	2.465000	0.83290	0.650000	0.86243	CCA		0.463	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			6	113	6	113	---	---	---	---	A	20711366	C	A	20711366	3	1	73	1	0	0	0	0	1	0	0	0	10928	594	21	1	418	1	OR11H4	14	20711366	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		20711366	86638174	313	3862										
TTC5	91875	broad.mit.edu	37	chr14	20764556	20764556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaaggtcttaccgtcgccCtgttcagatgaaggtcagga	11	11	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.chr14:20764556C>A	ENST00000258821.3	-	6	745	c.689G>T	c.(688-690)aGg>aTg	p.R230M		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	230					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCGTCGCCCTGTTCAGATG	0.423																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(688-690)aGg>aTg		tetratricopeptide repeat domain 5							235	225	228					14																	20764556		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20764556C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.689G>T	14.37:g.20764556C>A	ENSP00000258821:p.Arg230Met		Somatic					p.R230M	NM_138376.2	NP_612385.2	WXS	Illumina GAIIx	Phase_I	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	6	745	-	all_cancers(95;0.00092)		230					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.689G>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.634778|4.634778	0.87760|0.87760	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.75704	.|-0.96	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84215|0.84215	0.5423|0.5423	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.69078	.|0.997	.|D	.|0.68483	.|0.958	D|D	0.85230|0.85230	0.1032|0.1032	5|10	.|0.72032	.|D	.|0.01	.|.	17.7907|17.7907	0.88551|0.88551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|230	.|Q8N0Z6	.|TTC5_HUMAN	H|M	174|230	.|ENSP00000258821:R230M	.|ENSP00000258821:R230M	Q|R	-|-	3|2	2|0	TTC5|TTC5	19834396|19834396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.622000|5.622000	0.67750|0.67750	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.423	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		8	250	8	250	---	---	---	---	A	20764556	C	A	20764556	3	1	73	1	0	0	0	0	1	0	0	0	16708	681	24	1	653	1	TTC5	14	20764556	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	53190	20764556	86584984	314	3863										
OSGEP	328	broad.mit.edu	37	chr14	20922784	20922784	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgccagcaccttgccatccCgcaccacgcccacgccaatc	6	22	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.chr14:20922784C>A	ENST00000216714.3	+	0	0				APEX1_ENST00000398030.4_5'Flank|APEX1_ENST00000555414.1_5'Flank|OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.R20L|RP11-203M5.7_ENST00000555435.1_RNA	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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)	Lucanthone(DB04967)	CTTGCCATCCCGCACCACGCC	0.632								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(58-60)cGg>cTg		O-sialoglycoprotein endopeptidase							69	71	70					14																	20922784		2203	4298	6501	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922784C>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922784C>A	Exception_encountered		Somatic				OSGEP_ENST00000556252.1_5'UTR	p.R20L	NM_017807.3	NP_060277.1	WXS	Illumina GAIIx	Phase_I	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	1	480	-	all_cancers(95;0.00123)	all_lung(585;0.235)	20					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.59G>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223643	0.58668	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.47177	2.33;0.85	5.51	5.51	0.81932	.	0.172195	0.50627	D	0.000116	T	0.45577	0.1349	M	0.64567	1.98	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.39881	-0.9592	10	0.56958	D	0.05	-23.0229	11.7136	0.51639	0.0:0.9192:0.0:0.0808	.	20	Q9NPF4	OSGEP_HUMAN	L	20	ENSP00000206542:R20L;ENSP00000450507:R20L	ENSP00000206542:R20L	R	-	2	0	OSGEP	19992624	0.972000	0.33761	1.000000	0.80357	0.958000	0.62258	1.893000	0.39758	2.873000	0.98535	0.561000	0.74099	CGG		0.632	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		5	127	5	127	---	---	---	---	A	20922784	C	A	20922784	1	1	73	0	1	0	0	0	0	0	0	0	11287	652	23	1		1	OSGEP	14	20922784	5'Flank	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	158228	20922784	86426756	315	3864										
RNASE2	6036	broad.mit.edu	37	chr14	21424072	21424072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcacatcaatatgacctccCagcaatgcaccaatgcaatg	6	13	1	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.chr14:21424072C>A	ENST00000304625.2	+	2	232	c.142C>A	c.(142-144)Cag>Aag	p.Q48K		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	48					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TATGACCTCCCAGCAATGCAC	0.443																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(142-144)Cag>Aag		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							83	75	78					14																	21424072		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424072C>A	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.142C>A	14.37:g.21424072C>A	ENSP00000303276:p.Gln48Lys		Somatic					p.Q48K	NM_002934.2	NP_002925.1	WXS	Illumina GAIIx	Phase_I	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	232	+	all_cancers(95;0.00381)		48					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.142C>A	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.231647	0.00280	.	.	ENSG00000169385	ENST00000304625	T	0.72835	-0.69	2.78	-5.55	0.02536	Ribonuclease A, domain (4);	1.778880	0.03502	U	0.218217	T	0.54351	0.1853	N	0.20986	0.625	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46400	-0.9194	10	0.56958	D	0.05	.	7.3486	0.26678	0.3523:0.2898:0.3578:0.0	.	48	P10153	RNAS2_HUMAN	K	48	ENSP00000303276:Q48K	ENSP00000303276:Q48K	Q	+	1	0	RNASE2	20493912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.147000	0.00147	-2.150000	0.00796	-2.039000	0.00418	CAG		0.443	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			6	65	6	65	---	---	---	---	A	21424072	C	A	21424072	3	1	73	1	0	0	0	0	1	0	0	0	13404	595	21	1	144	1	RNASE2	14	21424072	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	501288	21424072	85925468	316	3865										
MYH6	4624	broad.mit.edu	37	chr14	23872637	23872637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttcagctggaagatcaccCgggacttctccagcaggtct	10	13	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.chr14:23872637C>A	ENST00000356287.3	-	9	847	c.818G>T	c.(817-819)cGg>cTg	p.R273L	MYH6_ENST00000405093.3_Missense_Mutation_p.R273L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	273	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)		GAAGATCACCCGGGACTTCTC	0.572																																						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.(817-819)cGg>cTg		myosin, heavy chain 6, cardiac muscle, alpha							102	109	107					14																	23872637		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.chr14:23872637C>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.818G>T	14.37:g.23872637C>A	ENSP00000348634:p.Arg273Leu		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.R273L	p.R273L	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	10	888	-	all_cancers(95;2.54e-05)		273			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.818G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.946838	0.53186	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.96885	-4.16;-4.16	3.74	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	D	0.99149	0.9706	H	0.99981	5.195	0.58432	D	0.999999	P;P	0.44776	0.843;0.843	P;P	0.60473	0.875;0.875	D	0.98143	1.0437	9	0.87932	D	0	.	15.4979	0.75669	0.0:1.0:0.0:0.0	.	273;273	D9YZU2;P13533	.;MYH6_HUMAN	L	273	ENSP00000386041:R273L;ENSP00000348634:R273L	ENSP00000348634:R273L	R	-	2	0	MYH6	22942477	0.998000	0.40836	0.997000	0.53966	0.011000	0.07611	7.426000	0.80270	1.808000	0.52836	0.462000	0.41574	CGG		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	172	5	172	---	---	---	---	A	23872637	C	A	23872637	3	1	73	1	0	0	0	0	1	0	0	0	10038	652	23	1	5121	1	MYH6	14	23872637	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2448565	23872637	83476903	317	3866										
PSME2	5721	broad.mit.edu	37	chr14	24614267	24614267	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccccatttcccaggcttacCagaatgcatttctctttgag	6	14	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.chr14:24614267C>A	ENST00000216802.5	-	6	999	c.360G>T	c.(358-360)ctG>ctT	p.L120L	PSME2_ENST00000560410.1_Splice_Site_p.L109L|RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	120					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)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGCTTACCAGAATGCATT	0.502																																						ENST00000216802.5																			0				endometrium(1)|lung(3)|prostate(2)	6						c.(358-360)ctG>ctT		proteasome (prosome, macropain) activator subunit 2 (PA28 beta)							149	154	152					14																	24614267		2203	4300	6503	SO:0001630	splice_region_variant	5721				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 activator complex		g.chr14:24614267C>A		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.360+1G>T	14.37:g.24614267C>A			Somatic				PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Splice_Site_p.L109L	p.L120L	NM_002818.2	NP_002809.2	WXS	Illumina GAIIx	Phase_I	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	999	-			120					Q15129	Splice_Site	SNP	ENST00000216802.5	37	c.360G>T	CCDS9614.1																																																																																				0.502	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818	Silent	7	239	7	239	---	---	---	---	A	24614267	C	A	24614267	5	1	73	1	0	0	0	0	0	0	1	0	12707	608	21	1	383	1	PSME2	14	24614267	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	741630	24614267	82735273	318	3867										
TGM1	7051	broad.mit.edu	37	chr14	24731088	24731088	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgttcactactagcatgccCtctgcaaggacacagctccg	8	16	2	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.chr14:24731088C>A	ENST00000206765.6	-	3	444	c.321G>T	c.(319-321)gaG>gaT	p.E107D	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	107					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)	CTAGCATGCCCTCTGCAAGGA	0.577																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(319-321)gaG>gaT		transglutaminase 1	L-Glutamine(DB00130)						91	84	86					14																	24731088		2203	4300	6503	SO:0001630	splice_region_variant	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.chr14:24731088C>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.320-1G>T	14.37:g.24731088C>A			Somatic				TGM1_ENST00000544573.1_Intron	p.E107D	NM_000359.2	NP_000350.1	WXS	Illumina GAIIx	Phase_I	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	444	-			107					B4DWR7|Q197M4	Splice_Site	SNP	ENST00000206765.6	37	c.321G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908607	0.33721	.	.	ENSG00000092295	ENST00000206765	D	0.86366	-2.11	5.29	2.04	0.26737	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.239499	0.41938	D	0.000798	T	0.68869	0.3048	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53669	-0.8406	10	0.10377	T	0.69	.	5.3959	0.16268	0.3286:0.4987:0.0:0.1726	.	107	P22735	TGM1_HUMAN	D	107	ENSP00000206765:E107D	ENSP00000206765:E107D	E	-	3	2	TGM1	23800928	0.000000	0.05858	1.000000	0.80357	0.827000	0.46813	-0.594000	0.05733	0.570000	0.29347	0.561000	0.74099	GAG		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	Missense_Mutation	5	81	5	81	---	---	---	---	A	24731088	C	A	24731088	5	1	73	1	0	0	0	0	0	0	1	0	15826	695	24	1	2184	1	TGM1	14	24731088	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	116821	24731088	82618452	319	3868										
NFATC4	4776	broad.mit.edu	37	chr14	24838791	24838791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcacctatcggtattcccCgacctccaccccctcggcct	6	21	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.chr14:24838791C>A	ENST00000250373.4	+	2	328	c.187C>A	c.(187-189)Cga>Aga	p.R63R	NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000413692.2_Silent_p.R126R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000422617.3_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000556279.1_Silent_p.R95R	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	63	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGTATTCCCCGACCTCCACC	0.677																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(376-378)Cga>Aga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							82	92	88					14																	24838791		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838791C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.187C>A	14.37:g.24838791C>A			Somatic				NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000556279.1_Silent_p.R95R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000250373.4_Silent_p.R63R|NFATC4_ENST00000422617.3_Silent_p.R51R	p.R126R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	520	+			63			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.376C>A	CCDS9629.1																																																																																				0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		5	178	5	178	---	---	---	---	A	24838791	C	A	24838791	2	1	73	1	0	0	0	0	0	0	0	1	10365	644	23	1		1	NFATC4	14	24838791	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	107703	24838791	82510749	320	3869										
EAPP	55837	broad.mit.edu	37	chr14	34985607	34985607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacattcagtgcacatgactGggtgatagatttcttccaca	8	9	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.chr14:34985607G>T	ENST00000250454.3	-	6	848	c.767C>A	c.(766-768)cCa>cAa	p.P256Q		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	256					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)		GCACATGACTGGGTGATAGAT	0.453																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(766-768)cCa>cAa		E2F-associated phosphoprotein							222	217	219					14																	34985607		1987	4159	6146	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.chr14:34985607G>T	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.767C>A	14.37:g.34985607G>T	ENSP00000250454:p.Pro256Gln		Somatic					p.P256Q	NM_018453.3	NP_060923.2	WXS	Illumina GAIIx	Phase_I	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	848	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		256					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.767C>A	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719760	0.89205	.	.	ENSG00000129518	ENST00000250454	T	0.43688	0.94	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72360	-0.4317	10	0.87932	D	0	-11.2531	19.6472	0.95784	0.0:0.0:1.0:0.0	.	256	Q56P03	EAPP_HUMAN	Q	256	ENSP00000250454:P256Q	ENSP00000250454:P256Q	P	-	2	0	EAPP	34055358	1.000000	0.71417	0.970000	0.41538	0.940000	0.58332	8.649000	0.91067	2.720000	0.93068	0.650000	0.86243	CCA		0.453	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		7	226	7	226	---	---	---	---	T	34985607	G	T	34985607	3	4	73	1	0	0	0	0	1	0	0	0	4877	1348	47	1	94	1	EAPP	14	34985607	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	10146816	34985607	72363933	321	3870										
KLHDC1	122773	broad.mit.edu	37	chr14	50199529	50199529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actaagtgcagataatatccCattaagtaagttgattaagg	8	5	0	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.chr14:50199529C>A	ENST00000359332.2	+	9	908	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	273						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)					GATAATATCCCATTAAGTAAG	0.313																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(817-819)cCa>cAa		kelch domain containing 1							89	86	87					14																	50199529		2203	4299	6502	SO:0001583	missense	122773					cytoplasm		g.chr14:50199529C>A	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.818C>A	14.37:g.50199529C>A	ENSP00000352282:p.Pro273Gln		Somatic				KLHDC1_ENST00000554512.1_3'UTR	p.P273Q	NM_172193.2	NP_751943.1	WXS	Illumina GAIIx	Phase_I	Q8N7A1	KLDC1_HUMAN			9	908	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		273					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.818C>A	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170319	0.78452	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.65732	-0.17;-0.17	5.8	5.8	0.92144	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.70275	2.135	0.49213	D	0.999768	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74325	-0.3702	10	0.29301	T	0.29	-10.0669	20.0503	0.97624	0.0:1.0:0.0:0.0	.	144;273	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	Q	273;144	ENSP00000352282:P273Q;ENSP00000451407:P144Q	ENSP00000352282:P273Q	P	+	2	0	KLHDC1	49269279	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.146000	0.64845	2.736000	0.93811	0.591000	0.81541	CCA		0.313	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		4	40	4	40	---	---	---	---	A	50199529	C	A	50199529	3	1	73	1	0	0	0	0	1	0	0	0	8354	594	21	1	852	1	KLHDC1	14	50199529	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	15213922	50199529	57150011	322	3871										
YLPM1	56252	broad.mit.edu	37	chr14	75230236	75230236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcgggagcagccactatcCgccgccaccggtcccaccgc	12	19	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.chr14:75230236C>A	ENST00000552421.1	+	1	168	c.44C>A	c.(43-45)cCg>cAg	p.P15Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q|YLPM1_ENST00000325680.7_Missense_Mutation_p.P15Q			P49750	YLPM1_HUMAN	YLP motif containing 1	15	Pro-rich.				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)		AGCCACTATCCGCCGCCACCG	0.701																																						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.(43-45)cCg>cAg		YLP motif containing 1							7	11	10					14																	75230236		1300	3256	4556	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230236C>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	ENST00000552421.1:c.44C>A	14.37:g.75230236C>A	ENSP00000447921:p.Pro15Gln		Somatic				YLPM1_ENST00000552421.1_Missense_Mutation_p.P15Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q	p.P15Q	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	168	+			15			Pro-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.44C>A		.	.	.	.	.	.	.	.	.	.	C	10.72	1.430406	0.25726	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.20881	2.04;2.04;2.04	4.6	3.67	0.42095	.	0.120313	0.37053	N	0.002265	T	0.21509	0.0518	N	0.14661	0.345	0.26269	N	0.978456	D	0.54964	0.969	P	0.59288	0.855	T	0.02533	-1.1145	10	0.87932	D	0	-1.4114	7.5653	0.27874	0.0:0.7879:0.0:0.2121	.	15	P49750-4	.	Q	15	ENSP00000447921:P15Q;ENSP00000324463:P15Q;ENSP00000238571:P15Q	ENSP00000238571:P15Q	P	+	2	0	YLPM1	74299989	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.166000	0.31834	1.210000	0.43336	0.655000	0.94253	CCG		0.701	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	21	3	21	---	---	---	---	A	75230236	C	A	75230236	3	1	73	1	0	0	0	0	1	0	0	0	17483	652	23	1	46	1	YLPM1	14	75230236	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	25030707	75230236	32119304	323	3872										
POMT2	29954	broad.mit.edu	37	chr14	77751965	77751965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccagaaatcatttgagtccCctgttccattctgccataaa	6	12	2	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.chr14:77751965C>A	ENST00000261534.4	-	13	1545	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	448	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)	p.G448V(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ATTTGAGTCCCCTGTTCCATT	0.438																																						ENST00000261534.4																			1	Substitution - Missense(1)	p.G448V(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1342-1344)gGg>gTg		protein-O-mannosyltransferase 2							261	299	286					14																	77751965		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751965C>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1343G>T	14.37:g.77751965C>A	ENSP00000261534:p.Gly448Val		Somatic					p.G448V	NM_013382.5	NP_037514.2	WXS	Illumina GAIIx	Phase_I	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1545	-			448			MIR 2.		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1343G>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955727	0.92726	.	.	ENSG00000009830	ENST00000261534	D	0.88509	-2.39	5.55	5.55	0.83447	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96213	0.9154	10	0.62326	D	0.03	-13.642	19.8667	0.96806	0.0:1.0:0.0:0.0	.	448	Q9UKY4	POMT2_HUMAN	V	448	ENSP00000261534:G448V	ENSP00000261534:G448V	G	-	2	0	POMT2	76821718	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.421000	0.80204	2.773000	0.95371	0.655000	0.94253	GGG		0.438	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		11	659	11	659	---	---	---	---	A	77751965	C	A	77751965	3	1	73	1	0	0	0	0	1	0	0	0	12246	623	22	1	945	1	POMT2	14	77751965	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2521729	77751965	29597575	324	3873										
GTF2A1	2957	broad.mit.edu	37	chr14	81658967	81658967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttcagatgatgtatcccCagttccatcaacttgtaaga	6	10	3	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.chr14:81658967C>A	ENST00000553612.1	-	7	1232	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	277					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 TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GATGTATCCCCAGTTCCATCA	0.483																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(829-831)Ggg>Tgg		general transcription factor IIA, 1, 19/37kDa							133	119	124					14																	81658967		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81658967C>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.829G>T	14.37:g.81658967C>A	ENSP00000452454:p.Gly277Trp		Somatic				GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	p.G277W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	WXS	Illumina GAIIx	Phase_I	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	7	1232	-			277					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.829G>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275627	0.80580	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.17691	2.26;2.26	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50276	-0.8847	10	0.72032	D	0.01	-7.2846	19.2442	0.93895	0.0:1.0:0.0:0.0	.	277	P52655	TF2AA_HUMAN	W	277;238;238	ENSP00000452454:G277W;ENSP00000409492:G238W	ENSP00000298173:G277W	G	-	1	0	GTF2A1	80728720	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.369000	0.73109	2.614000	0.88457	0.561000	0.74099	GGG		0.483	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		8	130	8	130	---	---	---	---	A	81658967	C	A	81658967	3	1	73	1	0	0	0	0	1	0	0	0	6852	594	21	1	313	1	GTF2A1	14	81658967	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3907002	81658967	25690573	325	3874										
AHNAK2	113146	broad.mit.edu	37	chr14	105419316	105419316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtctttggcagtcacctcCttgtcggccagggacaggtc	12	13	2	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.chr14:105419316C>A	ENST00000333244.5	-	7	2591	c.2472G>T	c.(2470-2472)aaG>aaT	p.K824N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	824						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)			CAGTCACCTCCTTGTCGGCCA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2470-2472)aaG>aaT		AHNAK nucleoprotein 2							225	247	240					14																	105419316		1949	4150	6099	SO:0001583	missense	113146					nucleus		g.chr14:105419316C>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.2472G>T	14.37:g.105419316C>A	ENSP00000353114:p.Lys824Asn		Somatic				AHNAK2_ENST00000557457.1_Intron	p.K824N	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	2591	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	824					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2472G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.120718	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.46	1.54	0.23209	.	.	.	.	.	T	0.02230	0.0069	M	0.85945	2.785	0.09310	N	1	P	0.51057	0.941	P	0.51657	0.676	T	0.40534	-0.9558	9	0.17832	T	0.49	.	7.4273	0.27107	0.0:0.6036:0.0:0.3964	.	824	Q8IVF2	AHNK2_HUMAN	N	824	ENSP00000353114:K824N	ENSP00000353114:K824N	K	-	3	2	AHNAK2	104490361	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.415000	0.07106	0.002000	0.14630	0.491000	0.48974	AAG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	377	9	377	---	---	---	---	A	105419316	C	A	105419316	3	1	73	1	0	0	0	0	1	0	0	0	415	680	24	1	14919	1	AHNAK2	14	105419316	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	23760349	105419316	1930224	326	3875										
HERC2	8924	broad.mit.edu	37	chr15	28473497	28473497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggcttgcgggatggtcccCaggctcggtcctgacgggtt	17	12	0	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.chr15:28473497C>A	ENST00000261609.7	-	35	5439	c.5331G>T	c.(5329-5331)ctG>ctT	p.L1777L		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)		GGATGGTCCCCAGGCTCGGTC	0.567																																						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.(5329-5331)ctG>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							98	77	84					15																	28473497		2203	4300	6503	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.chr15:28473497C>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.5331G>T	15.37:g.28473497C>A			Somatic					p.L1777L	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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)	35	5439	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1777						Silent	SNP	ENST00000261609.7	37	c.5331G>T	CCDS10021.1																																																																																				0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	56	5	56	---	---	---	---	A	28473497	C	A	28473497	2	1	73	1	0	0	0	0	0	0	0	1	7058	581	21	1		1	HERC2	15	28473497	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		28473497	74057895	327	3876										
MAPKBP1	23005	broad.mit.edu	37	chr15	42107849	42107849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaaaatcatctatgtggatGggaacacccaggccctgctg	10	10	2	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.chr15:42107849G>T	ENST00000456763.2	+	13	1559	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	455										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)		CTATGTGGATGGGAACACCCA	0.557																																						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.(1345-1347)Ggg>Tgg		mitogen-activated protein kinase binding protein 1							53	46	48					15																	42107849		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107849G>T	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.1363G>T	15.37:g.42107849G>T	ENSP00000393099:p.Gly455Trp		Somatic				MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G455W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W	p.G449W	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	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)	12	1631	+		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)	455					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1345G>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.040530	0.93630	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.40476	1.57;1.57;1.04;1.03;1.12	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.218748	0.47852	D	0.000207	T	0.48314	0.1493	N	0.08118	0	0.43771	D	0.996294	D;D;D;D	0.89917	1.0;0.998;0.994;0.998	D;D;D;D	0.83275	0.996;0.965;0.933;0.955	T	0.59963	-0.7355	10	0.72032	D	0.01	-21.5658	19.8235	0.96607	0.0:0.0:1.0:0.0	.	288;449;455;449	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	W	449;332;288;455;449	ENSP00000397570:G449W;ENSP00000221214:G332W;ENSP00000260357:G288W;ENSP00000393099:G455W;ENSP00000426154:G449W	ENSP00000221214:G332W	G	+	1	0	MAPKBP1	39895141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.549000	0.60726	2.696000	0.92011	0.456000	0.33151	GGG		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		4	27	4	27	---	---	---	---	T	42107849	G	T	42107849	3	4	73	1	0	0	0	0	1	0	0	0	9292	1348	47	1	1409	1	MAPKBP1	15	42107849	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	13634352	42107849	60423543	328	3877										
GANC	2595	broad.mit.edu	37	chr15	42641676	42641676	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaagttttcattctgttcCagtgttctgatcaataggta	9	6	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.chr15:42641676C>A	ENST00000318010.8	+	22	2754	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	838					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)	CATTCTGTTCCAGTGTTCTGA	0.393																																						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.(2512-2514)tcC>tcA		glucosidase, alpha; neutral C							159	151	154					15																	42641676		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42641676C>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.2514C>A	15.37:g.42641676C>A			Somatic				CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	p.S838S	NM_198141.2	NP_937784.2	WXS	Illumina GAIIx	Phase_I	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	22	2754	+		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)	838					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.2514C>A	CCDS10084.1																																																																																				0.393	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		5	119	5	119	---	---	---	---	A	42641676	C	A	42641676	2	1	73	1	0	0	0	0	0	0	0	1	6234	581	21	1		1	GANC	15	42641676	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	533827	42641676	59889716	329	3878										
UBR1	197131	broad.mit.edu	37	chr15	43328436	43328436	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttcatacctctgaagtacCagtaacaagaacttattggg	8	8	2	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.chr15:43328436C>A	ENST00000290650.4	-	19	2208	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	UBR1_ENST00000382177.2_Silent_p.L710L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	710					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)		TCTGAAGTACCAGTAACAAGA	0.338																																						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.(2128-2130)ctG>ctT		ubiquitin protein ligase E3 component n-recognin 1							152	161	158					15																	43328436		2203	4298	6501	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43328436C>A		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.2130G>T	15.37:g.43328436C>A			Somatic				UBR1_ENST00000382177.2_Silent_p.L710L	p.L710L	NM_174916.2	NP_777576.1	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	19	2208	-		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)	710					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.2130G>T	CCDS10091.1																																																																																				0.338	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		7	300	7	300	---	---	---	---	A	43328436	C	A	43328436	2	1	73	1	0	0	0	0	0	0	0	1	16898	581	21	1		1	UBR1	15	43328436	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	686760	43328436	59202956	330	3879										
TP53BP1	7158	broad.mit.edu	37	chr15	43712632	43712632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagagcaatttatacttccCagctccgacatctcgtgtga	7	11	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.chr15:43712632C>A	ENST00000263801.3	-	21	4789	c.4537G>T	c.(4537-4539)Ggg>Tgg	p.G1513W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1513	Interaction with dimethylated histone H4.|Tudor-like.				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)		TTATACTTCCCAGCTCCGACA	0.483								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.(4537-4539)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							233	226	229					15																	43712632		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.chr15:43712632C>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.4537G>T	15.37:g.43712632C>A	ENSP00000263801:p.Gly1513Trp		Somatic				TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W	p.G1513W	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4789	-		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)	1513			Interaction with dimethylated histone H4.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4537G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409426	0.62399	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.55	5.55	0.83447	Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	N	0.24115	0.695	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;1.0;1.0;1.0	T	0.66937	-0.5797	10	0.87932	D	0	-13.041	14.0954	0.65019	0.0:0.9278:0.0:0.0721	.	1518;1513;1518;1518	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	1513;1518;1468;1518	ENSP00000263801:G1513W;ENSP00000371475:G1518W;ENSP00000371470:G1468W;ENSP00000393497:G1518W	ENSP00000263801:G1513W	G	-	1	0	TP53BP1	41499924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.623000	0.54224	2.773000	0.95371	0.585000	0.79938	GGG		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	341	7	341	---	---	---	---	A	43712632	C	A	43712632	3	1	73	1	0	0	0	0	1	0	0	0	16380	594	21	1	1413	1	TP53BP1	15	43712632	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	384196	43712632	58818760	331	3880										
FBN1	2200	broad.mit.edu	37	chr15	48717950	48717950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttacctacacaggaagtcCcagttatatctggagtgtac	8	10	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.chr15:48717950C>A	ENST00000316623.5	-	59	7771	c.7316G>T	c.(7315-7317)gGg>gTg	p.G2439V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2439	EGF-like 41; 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)		ACAGGAAGTCCCAGTTATATC	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.(7315-7317)gGg>gTg		fibrillin 1							136	117	123					15																	48717950		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.chr15:48717950C>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.7316G>T	15.37:g.48717950C>A	ENSP00000325527:p.Gly2439Val		Somatic					p.G2439V	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7771	-		all_lung(180;0.00279)	2439			EGF-like 41; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7316G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131273	0.77549	.	.	ENSG00000166147	ENST00000316623	T	0.81247	-1.47	6.08	6.08	0.98989	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.141422	0.64402	D	0.000005	D	0.90477	0.7017	M	0.88450	2.955	0.80722	D	1	P	0.40332	0.713	P	0.53518	0.728	D	0.89791	0.3968	10	0.54805	T	0.06	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	2439	P35555	FBN1_HUMAN	V	2439	ENSP00000325527:G2439V	ENSP00000325527:G2439V	G	-	2	0	FBN1	46505242	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.897000	0.63231	2.894000	0.99253	0.591000	0.81541	GGG		0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	74	6	74	---	---	---	---	A	48717950	C	A	48717950	3	1	73	1	0	0	0	0	1	0	0	0	5702	623	22	1	1331	1	FBN1	15	48717950	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5005318	48717950	53813442	332	3881										
OAZ2	4947	broad.mit.edu	37	chr15	64982648	64982648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggacaggactgcatccCaagaagagaccttcacctcg	11	13	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.chr15:64982648C>A	ENST00000326005.6	-	4	510	c.278G>T	c.(277-279)tGg>tTg	p.W93L	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	93					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	GACTGCATCCCAAGAAGAGAC	0.517																																						ENST00000326005.6																			0											c.(277-279)tGg>tTg		ornithine decarboxylase antizyme 2	L-Ornithine(DB00129)						175	169	171					15																	64982648		1934	4132	6066	SO:0001583	missense	4947				polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding	g.chr15:64982648C>A	AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.278G>T	15.37:g.64982648C>A	ENSP00000463013:p.Trp93Leu		Somatic				OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR	p.W93L			WXS	Illumina GAIIx	Phase_I	O95190	OAZ2_HUMAN			4	510	-			93						Missense_Mutation	SNP	ENST00000326005.6	37	c.278G>T	CCDS58372.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240009	0.58995	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.84	5.84	0.93424	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88434	0.3037	9	0.72032	D	0.01	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	93	O95190	OAZ2_HUMAN	L	91	.	ENSP00000316264:W91L	W	-	2	0	OAZ2	62769701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.769000	0.95229	0.563000	0.77884	TGG		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418707.2	NM_002537		7	196	7	196	---	---	---	---	A	64982648	C	A	64982648	3	1	73	1	0	0	0	0	1	0	0	0	10805	595	21	1	303	1	OAZ2	15	64982648	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	16264698	64982648	37548744	333	3882										
FEM1B	10116	broad.mit.edu	37	chr15	68582486	68582486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgcctcctttgcaaatgacCgtgagaactatgacatcata	8	10	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.chr15:68582486C>A	ENST00000306917.4	+	2	1405	c.790C>A	c.(790-792)Cgt>Agt	p.R264S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	264					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCAAATGACCGTGAGAACTA	0.418																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(790-792)Cgt>Agt		fem-1 homolog b (C. elegans)							126	126	126					15																	68582486		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582486C>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.790C>A	15.37:g.68582486C>A	ENSP00000307298:p.Arg264Ser		Somatic					p.R264S	NM_015322.4	NP_056137.1	WXS	Illumina GAIIx	Phase_I	Q9UK73	FEM1B_HUMAN			2	1405	+			264					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.790C>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990107	0.35131	.	.	ENSG00000169018	ENST00000306917	T	0.42513	0.97	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.56769	1.78	0.80722	D	1	P	0.46220	0.874	B	0.41202	0.35	T	0.30416	-0.9979	10	0.42905	T	0.14	-2.9416	12.5661	0.56310	0.261:0.739:0.0:0.0	.	264	Q9UK73	FEM1B_HUMAN	S	264	ENSP00000307298:R264S	ENSP00000307298:R264S	R	+	1	0	FEM1B	66369540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	2.717000	0.92951	0.555000	0.69702	CGT		0.418	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			7	177	7	177	---	---	---	---	A	68582486	C	A	68582486	3	1	73	1	0	0	0	0	1	0	0	0	5810	652	23	1	796	1	FEM1B	15	68582486	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3599838	68582486	33948906	334	3883										
PARP6	56965	broad.mit.edu	37	chr15	72552964	72552964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttcatgaggcgcccaaccCgaagctctggtacacctagt	11	13	2	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.chr15:72552964C>A	ENST00000569795.1	-	10	1298	c.611G>T	c.(610-612)cGg>cTg	p.R204L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000287196.9_Missense_Mutation_p.R204L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	204							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCGCCCAACCCGAAGCTCTGG	0.532																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(610-612)cGg>cTg		poly (ADP-ribose) polymerase family, member 6							375	366	369					15																	72552964		1907	4125	6032	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72552964C>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.611G>T	15.37:g.72552964C>A	ENSP00000456348:p.Arg204Leu		Somatic				PARP6_ENST00000287196.9_Missense_Mutation_p.R204L|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000413097.2_5'UTR	p.R204L			WXS	Illumina GAIIx	Phase_I	Q2NL67	PARP6_HUMAN			10	1298	-			204					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.611G>T	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990696	0.54041	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.50333	1.59	0.51482	D	0.999926	P;P;P	0.44090	0.781;0.737;0.826	B;B;B	0.34180	0.134;0.163;0.177	T	0.60131	-0.7323	9	0.59425	D	0.04	-7.3332	17.1418	0.86756	0.0:1.0:0.0:0.0	.	204;204;156	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	204;204;204;69;69;204	.	ENSP00000260376:R204L	R	-	2	0	PARP6	70340018	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	7.376000	0.79658	2.277000	0.76020	0.585000	0.79938	CGG		0.532	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		8	557	8	557	---	---	---	---	A	72552964	C	A	72552964	3	1	73	1	0	0	0	0	1	0	0	0	11464	652	23	1	1341	1	PARP6	15	72552964	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3970478	72552964	29978428	335	3884										
BBS4	585	broad.mit.edu	37	chr15	73028174	73028174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctgccacaggtgtaaccCtttagtaaacctgaactatg	8	10	1	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.chr15:73028174C>A	ENST00000268057.4	+	14	1156	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	372	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						AGGTGTAACCCTTTAGTAAAC	0.463									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.(1114-1116)cCt>cAt		Bardet-Biedl syndrome 4							157	155	156					15																	73028174		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.chr15:73028174C>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.1115C>A	15.37:g.73028174C>A	ENSP00000268057:p.Pro372His		Somatic				BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	p.P372H	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	Q96RK4	BBS4_HUMAN			14	1156	+			372			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1115C>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308448	0.81247	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.78126	0.5;-1.15;-1.15;-1.15	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.992	P;D;P	0.80764	0.847;0.994;0.906	D	0.85468	0.1171	10	0.36615	T	0.2	-15.4101	17.98	0.89138	0.0:1.0:0.0:0.0	.	360;380;372	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	H	200;372;360;380	ENSP00000445964:P200H;ENSP00000268057:P372H;ENSP00000442492:P360H;ENSP00000378631:P380H	ENSP00000268057:P372H	P	+	2	0	BBS4	70815227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.427000	0.80284	2.686000	0.91538	0.650000	0.86243	CCT		0.463	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		7	232	7	232	---	---	---	---	A	73028174	C	A	73028174	3	1	73	1	0	0	0	0	1	0	0	0	1339	681	24	1	1169	1	BBS4	15	73028174	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	475210	73028174	29503218	336	3885										
ARNT2	9915	broad.mit.edu	37	chr15	80866543	80866543	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccagagagatggattgtcAtcgtatgacttatcccaggt	10	9	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.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			Somatic				ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S	p.S446S			WXS	Illumina GAIIx	Phase_I	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	29	58	---	---	---	---	T	80866543	A	T	80866543	2	4	73	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	7838369	80866543	21664849	337	3886										
TMC3	342125	broad.mit.edu	37	chr15	81625417	81625417	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatagtatctgggggcgtgGggcctgggaccctgtgccag	17	10	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.chr15:81625417G>T	ENST00000359440.5	-	22	2781	c.2646C>A	c.(2644-2646)ccC>ccA	p.P882P	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Silent_p.P883P|RP11-761I4.3_ENST00000559781.1_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						TGGGGGCGTGGGGCCTGGGAC	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.(2647-2649)ccC>ccA		transmembrane channel-like 3							107	103	104					15																	81625417		1921	4139	6060	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625417G>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.2646C>A	15.37:g.81625417G>T			Somatic				RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P882P	p.P883P			WXS	Illumina GAIIx	Phase_I	Q7Z5M5	TMC3_HUMAN			22	2784	-			882						Silent	SNP	ENST00000359440.5	37	c.2649C>A	CCDS45324.1																																																																																				0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		6	121	6	121	---	---	---	---	T	81625417	G	T	81625417	2	4	73	1	0	0	0	0	0	0	0	1	15983	1219	43	1		1	TMC3	15	81625417	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	758874	81625417	20905975	338	3887										
C15orf40	123207	broad.mit.edu	37	chr15	83674445	83674445	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttcacgagatttaccaccCtggaccaaaagagaaaaagc	7	10	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.chr15:83674445C>A	ENST00000513601.2	-	4	374		c.e4-1		RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site|C15orf40_ENST00000451195.3_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						ATTTACCACCCTGGACCAAAA	0.393																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e4-1		chromosome 15 open reading frame 40							193	212	205					15																	83674445		2203	4300	6503	SO:0001630	splice_region_variant	123207							g.chr15:83674445C>A	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.367-1G>T	15.37:g.83674445C>A			Somatic				RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site		NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	WXS	Illumina GAIIx	Phase_I	Q8WUR7	CO040_HUMAN			4	400	-								A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Splice_Site	SNP	ENST00000513601.2	37		CCDS32312.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302196	0.81136	.	.	ENSG00000169609	ENST00000304177;ENST00000513601	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4848	0.95025	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf40	81465449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.509000	0.67012	2.781000	0.95711	0.650000	0.86243	.		0.393	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597	Intron	8	462	8	462	---	---	---	---	A	83674445	C	A	83674445	5	1	73	1	0	0	0	0	0	0	1	0	1794	695	24	1	433	1	C15orf40	15	83674445	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2049028	83674445	18856947	339	3888										
ITFG3	83986	broad.mit.edu	37	chr16	304439	304439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccacaaggacttagaggcCgaaatccaccccttgaaaaa	8	12	0	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.chr16:304439C>A	ENST00000399932.3	+	3	478	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						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)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										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.(25-27)gcC>gcA		integrin alpha FG-GAP repeat containing 3							157	161	160					16																	304439		1906	4121	6027	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:304439C>A	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.27C>A	16.37:g.304439C>A			Somatic	OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	p.A9A	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	Q9H0X4	ITFG3_HUMAN			3	478	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	9					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.27C>A	CCDS10402.1																																																																																				0.493	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		5	233	5	233	---	---	---	---	A	304439	C	A	304439	2	1	73	1	0	0	0	0	0	0	0	1	7871	639	23	1		1	ITFG3	16	304439	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		304439	90050314	340	3889										
METRN	79006	broad.mit.edu	37	chr16	767145	767145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatcactgtggtggccgccCgtgtcctccgccagacaccg	11	17	2	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.chr16:767145C>A	ENST00000568223.2	+	4	815	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	METRN_ENST00000568415.1_Missense_Mutation_p.R81S	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	214					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				GGTGGCCGCCCGTGTCCTCCG	0.662																																						ENST00000568223.2																			0				skin(1)	1						c.(640-642)Cgt>Agt		meteorin, glial cell differentiation regulator							24	32	29					16																	767145		2177	4286	6463	SO:0001583	missense	79006							g.chr16:767145C>A	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.640C>A	16.37:g.767145C>A	ENSP00000455068:p.Arg214Ser		Somatic				METRN_ENST00000568415.1_Missense_Mutation_p.R81S	p.R214S	NM_024042.2	NP_076947.1	WXS	Illumina GAIIx	Phase_I	Q9UJH8	METRN_HUMAN			4	815	+		Hepatocellular(780;0.00335)	214					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.640C>A	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729194	0.69074	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.68	2.68	0.31781	.	0.137438	0.50627	D	0.000113	T	0.53286	0.1787	M	0.79926	2.475	0.29003	N	0.887341	P	0.43701	0.815	P	0.46685	0.524	T	0.55211	-0.8176	9	0.87932	D	0	.	7.6713	0.28460	0.0:0.5986:0.314:0.0874	.	214	Q9UJH8	METRN_HUMAN	S	214	.	ENSP00000219542:R214S	R	+	1	0	METRN	707146	0.092000	0.21681	0.002000	0.10522	0.008000	0.06430	2.294000	0.43567	0.399000	0.25367	-0.259000	0.10710	CGT		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	12	3	12	---	---	---	---	A	767145	C	A	767145	3	1	73	1	0	0	0	0	1	0	0	0	9488	652	23	1	654	1	METRN	16	767145	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	462706	767145	89587608	341	3890										
IFT140	9742	broad.mit.edu	37	chr16	1570280	1570280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgtagatttccttctgcCtggacacgctcgcgaagaac	10	11	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.chr16:1570280C>A	ENST00000426508.2	-	28	4088	c.3725G>T	c.(3724-3726)aGg>aTg	p.R1242M	IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1242					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)				TTCCTTCTGCCTGGACACGCT	0.567																																						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.(3724-3726)aGg>aTg		intraflagellar transport 140 homolog (Chlamydomonas)							148	140	143					16																	1570280		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570280C>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.3725G>T	16.37:g.1570280C>A	ENSP00000406012:p.Arg1242Met		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	p.R1242M	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	Q96RY7	IF140_HUMAN			28	4088	-		Hepatocellular(780;0.219)	1242					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3725G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897189	0.52121	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.59772	0.24;0.24	5.98	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91300	3.195	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82851	-0.0253	10	0.62326	D	0.03	.	11.6019	0.51008	0.0:0.8074:0.1259:0.0666	.	1242;929	Q96RY7;B4DR58	IF140_HUMAN;.	M	1242;436;1242	ENSP00000354895:R436M;ENSP00000406012:R1242M	ENSP00000354895:R436M	R	-	2	0	IFT140	1510281	0.998000	0.40836	0.827000	0.32855	0.855000	0.48748	4.036000	0.57304	1.542000	0.49330	0.650000	0.86243	AGG		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	153	6	153	---	---	---	---	A	1570280	C	A	1570280	3	1	73	1	0	0	0	0	1	0	0	0	7556	681	24	1	679	1	IFT140	16	1570280	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	803135	1570280	88784473	342	3891										
SRRM2	23524	broad.mit.edu	37	chr16	2813480	2813480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagtgaaacctgaaacacCgccaagacaaagtcactcag	7	12	2	3	rs371454353		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.chr16:2813480C>A	ENST00000301740.8	+	11	3500	c.2951C>A	c.(2950-2952)cCg>cAg	p.P984Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	984	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						CCTGAAACACCGCCAAGACAA	0.488																																						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.(2950-2952)cCg>cAg		serine/arginine repetitive matrix 2							144	148	147					16																	2813480		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.chr16:2813480C>A	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.2951C>A	16.37:g.2813480C>A	ENSP00000301740:p.Pro984Gln		Somatic					p.P984Q	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	3500	+			984			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2951C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116813	0.37339	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27104	1.69	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.47266	0.1436	L	0.55481	1.735	0.39004	D	0.9594	D	0.89917	1.0	D	0.91635	0.999	T	0.40813	-0.9543	10	0.46703	T	0.11	-12.4838	16.6882	0.85315	0.0:1.0:0.0:0.0	.	984	Q9UQ35	SRRM2_HUMAN	Q	984;984;236;949	ENSP00000301740:P984Q	ENSP00000301740:P984Q	P	+	2	0	SRRM2	2753481	0.493000	0.26035	0.994000	0.49952	0.974000	0.67602	2.925000	0.48884	2.550000	0.86006	0.655000	0.94253	CCG		0.488	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	201	5	201	---	---	---	---	A	2813480	C	A	2813480	3	1	73	1	0	0	0	0	1	0	0	0	15168	652	23	1	2989	1	SRRM2	16	2813480	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1243200	2813480	87541273	343	3892										
SEPT12	124404	broad.mit.edu	37	chr16	4829717	4829717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgccccacttggtcttcCggcccaggacacacctcccg	9	18	1	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.chr16:4829717C>A	ENST00000268231.8	-	8	1060	c.797G>T	c.(796-798)cGg>cTg	p.R266L	SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	266	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.R266Q(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTGGTCTTCCGGCCCAGGAC	0.602																																						ENST00000268231.8																			1	Substitution - Missense(1)	p.R266Q(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(796-798)cGg>cTg		septin 12							121	108	112					16																	4829717		2197	4300	6497	SO:0001583	missense	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.chr16:4829717C>A	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.797G>T	16.37:g.4829717C>A	ENSP00000268231:p.Arg266Leu		Somatic				SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	p.R266L	NM_144605.4	NP_653206.2	WXS	Illumina GAIIx	Phase_I	Q8IYM1	SEP12_HUMAN			8	1060	-			266					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.797G>T	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208184	0.95033	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.69561	-0.41;-0.41	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.89842	0.4003	10	0.87932	D	0	.	17.015	0.86416	0.0:1.0:0.0:0.0	.	220;266	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	L	220;266	ENSP00000379922:R220L;ENSP00000268231:R266L	ENSP00000268231:R266L	R	-	2	0	SEPT12	4769718	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.564000	0.82326	2.590000	0.87494	0.655000	0.94253	CGG		0.602	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		5	135	5	135	---	---	---	---	A	4829717	C	A	4829717	3	1	73	1	0	0	0	0	1	0	0	0	14062	652	23	1	291	1	SEPT12	16	4829717	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2016237	4829717	85525036	344	3893										
SMG1	23049	broad.mit.edu	37	chr16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttggctttcactctcttcCacacactcactgcataggag	6	14	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.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		Somatic				SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA	p.W3613L			WXS	Illumina GAIIx	Phase_I	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	9	499	---	---	---	---	A	18823153	C	A	18823153	3	1	73	1	0	0	0	0	1	0	0	0	14795	595	21	1	155	1	SMG1	16	18823153	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	13993436	18823153	71531600	345	3894										
TMC7	79905	broad.mit.edu	37	chr16	19063038	19063038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttacacctgcagaccctccCccaggccgttcagagcatcc	7	18	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.chr16:19063038C>A	ENST00000304381.5	+	13	1901	c.1771C>A	c.(1771-1773)Ccc>Acc	p.P591T	TMC7_ENST00000569532.1_Missense_Mutation_p.P591T|TMC7_ENST00000421369.3_Missense_Mutation_p.P481T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	591					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						CAGACCCTCCCCCAGGCCGTT	0.413																																						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.(1441-1443)Ccc>Acc		transmembrane channel-like 7							179	161	167					16																	19063038		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19063038C>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.1771C>A	16.37:g.19063038C>A	ENSP00000304710:p.Pro591Thr		Somatic				TMC7_ENST00000304381.5_Missense_Mutation_p.P591T|TMC7_ENST00000569532.1_Missense_Mutation_p.P591T	p.P481T	NM_001160364.1	NP_001153836.1	WXS	Illumina GAIIx	Phase_I	Q7Z402	TMC7_HUMAN			13	1999	+			591					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1441C>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	4.468	0.086639	0.08583	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.61980	0.06;0.06	5.62	4.62	0.57501	.	0.120994	0.53938	D	0.000051	T	0.20659	0.0497	N	0.00210	-1.845	0.35767	D	0.820608	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.38415	-0.9662	10	0.11182	T	0.66	.	8.0089	0.30342	0.4046:0.4813:0.1141:0.0	.	591;591	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	591;481	ENSP00000304710:P591T;ENSP00000397081:P481T	ENSP00000304710:P591T	P	+	1	0	TMC7	18970539	0.964000	0.33143	0.828000	0.32881	0.977000	0.68977	2.563000	0.45922	2.634000	0.89283	0.655000	0.94253	CCC		0.413	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	142	7	142	---	---	---	---	A	19063038	C	A	19063038	3	1	73	1	0	0	0	0	1	0	0	0	15987	623	22	1	1821	1	TMC7	16	19063038	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	239885	19063038	71291715	346	3895										
GTF3C1	2975	broad.mit.edu	37	chr16	27474868	27474868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccccacacccacctttccCgtgctgcctgggagatgttg	9	16	0	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.chr16:27474868C>A	ENST00000356183.4	-	35	5933	c.5918G>T	c.(5917-5919)cGg>cTg	p.R1973L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1973					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						CCACCTTTCCCGTGCTGCCTG	0.582																																						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.(5917-5919)cGg>cTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							107	110	109					16																	27474868		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27474868C>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.5918G>T	16.37:g.27474868C>A	ENSP00000348510:p.Arg1973Leu		Somatic				GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L	p.R1973L	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			35	5933	-			1973					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5918G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461498	0.26248	.	.	ENSG00000077235	ENST00000356183	T	0.22539	1.95	4.44	-0.197	0.13228	.	1.547300	0.03863	N	0.274348	T	0.15869	0.0382	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.22347	-1.0219	10	0.28530	T	0.3	-13.232	3.2233	0.06723	0.1811:0.4762:0.0:0.3427	.	1973;1948	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1973	ENSP00000348510:R1973L	ENSP00000348510:R1973L	R	-	2	0	GTF3C1	27382369	0.000000	0.05858	0.020000	0.16555	0.308000	0.27856	-0.458000	0.06737	-0.314000	0.08716	0.561000	0.74099	CGG		0.582	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		6	189	6	189	---	---	---	---	A	27474868	C	A	27474868	3	1	73	1	0	0	0	0	1	0	0	0	6872	652	23	1	423	1	GTF3C1	16	27474868	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8411830	27474868	62879885	347	3896										
ATXN2L	11273	broad.mit.edu	37	chr16	28847439	28847439	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacccctacatcggacacccCcaaggtgagcagcctggcca	9	17	0	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.chr16:28847439C>A	ENST00000336783.4	+	22	3248	c.3081C>A	c.(3079-3081)ccC>ccA	p.P1027P	ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027					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						TCGGACACCCCCAAGGTGAGC	0.632																																						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.(3079-3081)ccC>ccA		ataxin 2-like							46	54	52					16																	28847439		2194	4300	6494	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28847439C>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.3081C>A	16.37:g.28847439C>A			Somatic				ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	p.P1027P	NM_007245.3	NP_009176.2	WXS	Illumina GAIIx	Phase_I	Q8WWM7	ATX2L_HUMAN			22	3248	+			1027					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.3081C>A	CCDS10641.1																																																																																				0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		6	117	6	117	---	---	---	---	A	28847439	C	A	28847439	2	1	73	1	0	0	0	0	0	0	0	1	1212	610	22	1		1	ATXN2L	16	28847439	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1372571	28847439	61507314	348	3897										
SPN	6693	broad.mit.edu	37	chr16	29675312	29675312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtgccagcactggttcccCtttacctgagccaacaacct	8	15	0	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.chr16:29675312C>A	ENST00000360121.3	+	2	355	c.263C>A	c.(262-264)cCt>cAt	p.P88H	SPN_ENST00000395389.2_Missense_Mutation_p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				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)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						ACTGGTTCCCCTTTACCTGAG	0.542																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(262-264)cCt>cAt		sialophorin							164	143	150					16																	29675312		2197	4300	6497	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675312C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.263C>A	16.37:g.29675312C>A	ENSP00000353238:p.Pro88His		Somatic				SPN_ENST00000395389.2_Missense_Mutation_p.P88H	p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	WXS	Illumina GAIIx	Phase_I	P16150	LEUK_HUMAN			2	355	+			88					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.263C>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	13.74	2.327570	0.41197	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.34072	1.39;1.38;1.39	3.71	-1.45	0.08828	.	1.351940	0.05334	N	0.528901	T	0.25044	0.0608	L	0.31926	0.97	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.32877	-0.9890	10	0.72032	D	0.01	-0.0162	2.6303	0.04942	0.403:0.3058:0.0:0.2912	.	88	P16150	LEUK_HUMAN	H	88	ENSP00000378787:P88H;ENSP00000412907:P88H;ENSP00000353238:P88H	ENSP00000353238:P88H	P	+	2	0	SPN	29582813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.142000	0.10311	-0.221000	0.09973	0.462000	0.41574	CCT		0.542	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			6	135	6	135	---	---	---	---	A	29675312	C	A	29675312	3	1	73	1	0	0	0	0	1	0	0	0	15072	681	24	1	265	1	SPN	16	29675312	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	827873	29675312	60679441	349	3898										
SRCAP	10847	broad.mit.edu	37	chr16	30735154	30735154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactgtttctgcttcgggccCagctctgttgaccagtgtga	12	11	2	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.chr16:30735154C>A	ENST00000262518.4	+	25	4794	c.4409C>A	c.(4408-4410)cCa>cAa	p.P1470Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1470	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)			GCTTCGGGCCCAGCTCTGTTG	0.612																																						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.(4408-4410)cCa>cAa		Snf2-related CREBBP activator protein							203	173	183					16																	30735154		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.chr16:30735154C>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.4409C>A	16.37:g.30735154C>A	ENSP00000262518:p.Pro1470Gln		Somatic				SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q	p.P1470Q	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4794	+			1470			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4409C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302646	0.40795	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94931	-3.56;-3.47;-3.06	5.93	5.93	0.95920	.	0.114841	0.39985	N	0.001212	D	0.89319	0.6681	N	0.19112	0.55	0.27636	N	0.947873	B;B;B	0.26744	0.158;0.158;0.098	B;B;B	0.29785	0.068;0.107;0.05	T	0.80933	-0.1161	10	0.33141	T	0.24	-2.4972	12.739	0.57241	0.1641:0.8359:0.0:0.0	.	1312;1408;1470	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	Q	1470;1408;1312	ENSP00000262518:P1470Q;ENSP00000378499:P1408Q;ENSP00000343042:P1312Q	ENSP00000262518:P1470Q	P	+	2	0	SRCAP	30642655	0.002000	0.14202	0.998000	0.56505	0.951000	0.60555	0.996000	0.29719	2.811000	0.96726	0.557000	0.71058	CCA		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	170	6	170	---	---	---	---	A	30735154	C	A	30735154	3	1	73	1	0	0	0	0	1	0	0	0	15134	594	21	1	4499	1	SRCAP	16	30735154	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1059842	30735154	59619599	350	3899										
NETO2	81831	broad.mit.edu	37	chr16	47165907	47165907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttgggccacggcaatccCttccactaccagtactgtta	7	13	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.chr16:47165907C>A	ENST00000562435.1	-	2	448	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	22					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)				ACGGCAATCCCTTCCACTACC	0.338										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.(64-66)Ggg>Tgg		neuropilin (NRP) and tolloid (TLL)-like 2							238	222	227					16																	47165907		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47165907C>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.64G>T	16.37:g.47165907C>A	ENSP00000455169:p.Gly22Trp	HNSCC(25;0.065)	Somatic				NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	p.G22W	NM_018092.4	NP_060562.3	WXS	Illumina GAIIx	Phase_I	Q8NC67	NETO2_HUMAN			2	448	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	22					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.64G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434647	0.83885	.	.	ENSG00000171208	ENST00000303155	T	0.23147	1.92	4.94	4.94	0.65067	.	0.121294	0.56097	D	0.000036	T	0.41650	0.1168	L	0.32530	0.975	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.25745	-1.0123	10	0.46703	T	0.11	.	18.1734	0.89753	0.0:1.0:0.0:0.0	.	22;22	Q32NC3;Q8NC67	.;NETO2_HUMAN	W	22	ENSP00000306726:G22W	ENSP00000306726:G22W	G	-	1	0	NETO2	45723408	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.871000	0.69628	2.267000	0.75376	0.557000	0.71058	GGG		0.338	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		8	288	8	288	---	---	---	---	A	47165907	C	A	47165907	3	1	73	1	0	0	0	0	1	0	0	0	10340	681	24	1	1545	1	NETO2	16	47165907	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	16430753	47165907	43188846	351	3900										
MMP2	4313	broad.mit.edu	37	chr16	55525775	55525775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatggggctggagcactccCaagaccctggggccctgatg	14	14	0	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.chr16:55525775C>A	ENST00000219070.4	+	8	1752	c.1243C>A	c.(1243-1245)Caa>Aaa	p.Q415K	MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K|MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGAGCACTCCCAAGACCCTGG	0.582																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1243-1245)Caa>Aaa		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						65	63	63					16																	55525775		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525775C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1243C>A	16.37:g.55525775C>A	ENSP00000219070:p.Gln415Lys		Somatic				MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K|MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K	p.Q415K	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1752	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	415			Collagenase-like 2.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1243C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259393	0.10239	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80480	-1.38;-1.38;-1.38	5.23	-4.55	0.03441	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.564292	0.19547	N	0.111658	T	0.63343	0.2503	N	0.19112	0.55	0.28383	N	0.919455	B;B	0.29270	0.001;0.24	B;B	0.26094	0.002;0.066	T	0.44892	-0.9298	10	0.37606	T	0.19	.	14.4733	0.67531	0.1426:0.2633:0.5941:0.0	.	365;415	E9PE45;P08253	.;MMP2_HUMAN	K	415;339;365	ENSP00000219070:Q415K;ENSP00000444143:Q339K;ENSP00000394237:Q365K	ENSP00000219070:Q415K	Q	+	1	0	MMP2	54083276	0.000000	0.05858	0.007000	0.13788	0.963000	0.63663	-0.290000	0.08354	-1.096000	0.03046	-0.470000	0.05040	CAA		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			5	90	5	90	---	---	---	---	A	55525775	C	A	55525775	3	1	73	1	0	0	0	0	1	0	0	0	9658	595	21	1	1280	1	MMP2	16	55525775	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8359868	55525775	34828978	352	3901										
CES1	1066	broad.mit.edu	37	chr16	55844530	55844530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacagtgtcgtctgttcctCctaagtatttctcagtggct	9	10	2	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.chr16:55844530C>A	ENST00000361503.4	-	11	1344	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	CES1_ENST00000360526.3_Missense_Mutation_p.G406V|CES1_ENST00000422046.2_Missense_Mutation_p.G404V			P23141	EST1_HUMAN	carboxylesterase 1	405					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)	GTCTGTTCCTCCTAAGTATTT	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1210-1212)gGa>gTa		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						182	192	188					16																	55844530		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.chr16:55844530C>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.1214G>T	16.37:g.55844530C>A	ENSP00000355193:p.Gly405Val		Somatic				CES1_ENST00000361503.4_Missense_Mutation_p.G405V|CES1_ENST00000360526.3_Missense_Mutation_p.G406V	p.G404V			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1492	-			405					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.1211G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271698	0.40194	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.17370	3.24;3.24;2.28	4.69	2.71	0.32032	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000011	T	0.32255	0.0823	M	0.80028	2.48	0.58432	D	0.999993	P;P;P	0.51449	0.892;0.945;0.868	P;P;P	0.55785	0.784;0.784;0.678	T	0.03576	-1.1023	10	0.87932	D	0	.	6.5127	0.22230	0.0:0.7161:0.1831:0.1008	.	404;405;406	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	406;405;404;270	ENSP00000353720:G406V;ENSP00000355193:G405V;ENSP00000390492:G404V	ENSP00000353720:G406V	G	-	2	0	CES1	54402031	0.649000	0.27322	0.075000	0.20258	0.428000	0.31595	1.688000	0.37690	0.421000	0.25980	0.456000	0.33151	GGA		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	171	7	171	---	---	---	---	A	55844530	C	A	55844530	3	1	73	1	0	0	0	0	1	0	0	0	3269	855	30	3	505	3	CES1	16	55844530	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	318755	55844530	34510223	353	3902										
AMFR	267	broad.mit.edu	37	chr16	56423201	56423201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctccttgatgttcttccCtgacacgattattgtcggca	7	12	2	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.chr16:56423201C>A	ENST00000290649.5	-	9	1382	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					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						ATGTTCTTCCCTGACACGATT	0.458																																					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.(1171-1173)aGg>aTg		autocrine motility factor receptor, E3 ubiquitin protein ligase							161	144	150					16																	56423201		2198	4300	6498	SO:0001583	missense	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.chr16:56423201C>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.1172G>T	16.37:g.56423201C>A	ENSP00000290649:p.Arg391Met		Somatic					p.R391M	NM_001144.5	NP_001135.3	WXS	Illumina GAIIx	Phase_I	Q9UKV5	AMFR2_HUMAN			9	1382	-			391					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1172G>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633852	0.67130	.	.	ENSG00000159461	ENST00000290649	T	0.17528	2.27	5.92	5.92	0.95590	.	0.042152	0.85682	D	0.000000	T	0.26011	0.0634	L	0.51422	1.61	0.80722	D	1	P	0.45531	0.86	P	0.45232	0.474	T	0.00269	-1.1861	10	0.54805	T	0.06	-20.3337	20.33	0.98713	0.0:1.0:0.0:0.0	.	391	Q9UKV5	AMFR2_HUMAN	M	391	ENSP00000290649:R391M	ENSP00000290649:R391M	R	-	2	0	AMFR	54980702	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	7.599000	0.82757	2.810000	0.96702	0.585000	0.79938	AGG		0.458	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			6	111	6	111	---	---	---	---	A	56423201	C	A	56423201	3	1	73	1	0	0	0	0	1	0	0	0	571	681	24	1	783	1	AMFR	16	56423201	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	578671	56423201	33931552	354	3903										
CCDC135	84229	broad.mit.edu	37	chr16	57752294	57752294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggtgaccctgtgagatgGgagtacatgctcctggggac	16	9	0	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.chr16:57752294G>T	ENST00000360716.3	+	9	1334	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C|CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C			Q8IY82	CC135_HUMAN		371					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						CTGTGAGATGGGAGTACATGC	0.527																																						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.(1111-1113)tgG>tgT		coiled-coil domain containing 135							251	223	232					16																	57752294		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57752294G>T																												ENST00000360716.3:c.1113G>T	16.37:g.57752294G>T	ENSP00000353942:p.Trp371Cys		Somatic				CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C|CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C	p.W371C			WXS	Illumina GAIIx	Phase_I	Q8IY82	CC135_HUMAN			9	1334	+			371					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1113G>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	19.44	3.827424	0.71143	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75938	-0.98;-0.98;-0.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90458	0.4444	10	0.87932	D	0	-19.5225	18.2103	0.89868	0.0:0.0:1.0:0.0	.	306;371	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	371;306;371	ENSP00000377869:W371C;ENSP00000338938:W306C;ENSP00000353942:W371C	ENSP00000338938:W306C	W	+	3	0	CCDC135	56309795	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.641000	0.74324	2.630000	0.89119	0.651000	0.88453	TGG		0.527	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	172	8	172	---	---	---	---	T	57752294	G	T	57752294	3	4	73	1	0	0	0	0	1	0	0	0	2769	1241	43	1	1139	1	CCDC135	16	57752294	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1329093	57752294	32602459	355	3904										
CDH5	1003	broad.mit.edu	37	chr16	66426285	66426285	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgcggctaggcatagcattGggtaagggggcgtgtgtcga	18	6	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.chr16:66426285G>T	ENST00000341529.3	+	7	1364	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	CDH5_ENST00000563425.2_Missense_Mutation_p.G406W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	406	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)	GCATAGCATTGGGTAAGGGGG	0.557																																						ENST00000563425.2																			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.(1216-1218)Ggg>Tgg		cadherin 5, type 2 (vascular endothelium)							83	84	84					16																	66426285		2201	4300	6501	SO:0001630	splice_region_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.chr16:66426285G>T	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.1217+1G>T	16.37:g.66426285G>T			Somatic				CDH5_ENST00000341529.3_Splice_Site_p.G406*	p.G406W			WXS	Illumina GAIIx	Phase_I	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1329	+		Ovarian(137;0.0955)	406			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1216G>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487660	0.96323	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	.	.	.	5.62	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6218	0.17461	0.3634:0.0:0.6366:0.0	.	.	.	.	X	406;147	.	ENSP00000344115:G406X	G	+	1	0	CDH5	64983786	0.991000	0.36638	0.976000	0.42696	0.561000	0.35649	2.557000	0.45871	1.340000	0.45581	0.655000	0.94253	GGA		0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Nonsense_Mutation	6	120	6	120	---	---	---	---	T	66426285	G	T	66426285	5	4	73	1	0	0	0	0	0	0	1	0	3113	1362	47	1	1238	1	CDH5	16	66426285	Splice_Site	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8673991	66426285	23928468	356	3905										
TPPP3	51673	broad.mit.edu	37	chr16	67424507	67424507	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggccttcttgaactcctCatagttgatgacccgagcag	10	12	2	3	rs11552321		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.chr16:67424507C>A	ENST00000564104.1	-	2	1058	c.217G>T	c.(217-219)Gag>Tag	p.E73*	TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*|TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	73					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGAACTCCTCATAGTTGATG	0.552																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(217-219)Gag>Tag		tubulin polymerization-promoting protein family member 3							161	167	165					16																	67424507		2198	4300	6498	SO:0001587	stop_gained	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424507C>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.217G>T	16.37:g.67424507C>A	ENSP00000462435:p.Glu73*		Somatic				TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*|TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*	p.E73*			WXS	Illumina GAIIx	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	2	1058	-		Ovarian(137;0.0563)	73					Q49AH9|Q9Y326|Q9Y6H0	Nonsense_Mutation	SNP	ENST00000564104.1	37	c.217G>T	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	39	7.575604	0.98368	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	.	.	.	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-27.7151	15.042	0.71799	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000290942:E73X	E	-	1	0	TPPP3	65982008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.673000	0.68109	2.000000	0.58554	0.457000	0.33378	GAG		0.552	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		7	230	7	230	---	---	---	---	A	67424507	C	A	67424507	4	1	73	1	0	0	0	0	0	1	0	0	16412	835	29	3	321	3	TPPP3	16	67424507	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	998222	67424507	22930246	357	3906										
SLC12A4	6560	broad.mit.edu	37	chr16	67980429	67980429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagttatgccgcatgcctccCaggccacaggactggatgag	13	12	0	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.chr16:67980429C>A	ENST00000316341.3	-	18	2489	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	SLC12A4_ENST00000338335.3_Intron|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Silent_p.L777L|SLC12A4_ENST00000422611.2_Silent_p.L785L|SLC12A4_ENST00000572037.1_Silent_p.L735L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000576616.1_Silent_p.L783L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	783					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)	GCATGCCTCCCAGGCCACAGG	0.627																																						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.(2353-2355)ctG>ctT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						57	59	58					16																	67980429		2198	4299	6497	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980429C>A		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.2349G>T	16.37:g.67980429C>A			Somatic				SLC12A4_ENST00000316341.3_Silent_p.L783L|SLC12A4_ENST00000572037.1_Silent_p.L735L|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.L783L|SLC12A4_ENST00000537830.2_Silent_p.L777L	p.L785L	NM_001145962.1	NP_001139434.1	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2394	-		Ovarian(137;0.192)	783					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2355G>T	CCDS10855.1																																																																																				0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	93	5	93	---	---	---	---	A	67980429	C	A	67980429	2	1	73	1	0	0	0	0	0	0	0	1	14385	581	21	1		1	SLC12A4	16	67980429	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	555922	67980429	22374324	358	3907										
CDH3	1001	broad.mit.edu	37	chr16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaaaggacccacacgaccTcatgttcaccattcaccgga	6	16	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.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000429102.2_Missense_Mutation_p.L268P|CDH3_ENST00000581171.1_Missense_Mutation_p.L213P	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		Somatic				CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	p.L268P	NM_001793.4	NP_001784.2	WXS	Illumina GAIIx	Phase_I	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	4	98	---	---	---	---	C	68713813	T	C	68713813	3	2	73	1	0	0	0	0	1	0	0	0	3111	1551	54	2	829	2	CDH3	16	68713813	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	733384	68713813	21640940	359	3908										
AARS	16	broad.mit.edu	37	chr16	70303597	70303597	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgtggtcagccagcacccGgtaggccatgtcaatcccat	11	14	2	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.chr16:70303597G>T	ENST00000261772.8	-	7	1029	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		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)		GCCAGCACCCGGTAGGCCATG	0.587																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(886-888)Cgg>Agg		alanyl-tRNA synthetase	L-Alanine(DB00160)						216	187	197					16																	70303597		2198	4300	6498	SO:0001819	synonymous_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70303597G>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.886C>A	16.37:g.70303597G>T			Somatic					p.R296R	NM_001605.2	NP_001596.2	WXS	Illumina GAIIx	Phase_I	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	7	1029	-		Ovarian(137;0.0365)	296						Silent	SNP	ENST00000261772.8	37	c.886C>A	CCDS32474.1																																																																																				0.587	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		6	213	6	213	---	---	---	---	T	70303597	G	T	70303597	2	4	73	1	0	0	0	0	0	0	0	1	19	1115	39	1		1	AARS	16	70303597	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1589784	70303597	20051156	360	3909										
WWOX	51741	broad.mit.edu	37	chr16	78466600	78466600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacattcatcgcagctggtGggtgtacacactgctgttta	10	10	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.chr16:78466600G>T	ENST00000566780.1	+	8	1373	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	336	Interaction with MAPT. {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)		CGCAGCTGGTGGGTGTACACA	0.552																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1006-1008)tGg>tTg		WW domain containing oxidoreductase							184	184	184					16																	78466600		2077	4212	6289	SO:0001583	missense	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.chr16:78466600G>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.1007G>T	16.37:g.78466600G>T	ENSP00000457230:p.Trp336Leu		Somatic				WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	p.W336L	NM_016373.2	NP_057457.1	WXS	Illumina GAIIx	Phase_I	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	1373	+		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)	336			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1007G>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822407	0.90873	.	.	ENSG00000186153	ENST00000408984	T	0.19669	2.13	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.426761	0.20015	N	0.101037	T	0.39759	0.1090	L	0.41961	1.31	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.01729	-1.1286	10	0.48119	T	0.1	.	20.3261	0.98701	0.0:0.0:1.0:0.0	.	336	Q9NZC7	WWOX_HUMAN	L	336	ENSP00000386161:W336L	ENSP00000386161:W336L	W	+	2	0	WWOX	77024101	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	TGG		0.552	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			8	273	8	273	---	---	---	---	T	78466600	G	T	78466600	3	4	73	1	0	0	0	0	1	0	0	0	17411	1357	47	1	1099	1	WWOX	16	78466600	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8163003	78466600	11888153	361	3910										
KLHDC4	54758	broad.mit.edu	37	chr16	87782413	87782413	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaccttgaggcactaccacCgcctgtgaaaagaaaggtga	10	12	0	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.chr16:87782413C>A	ENST00000270583.5	-	5	430	c.372G>T	c.(370-372)gcG>gcT	p.A124A	KLHDC4_ENST00000347925.5_Silent_p.A124A|RP11-278A23.2_ENST00000563036.1_RNA|KLHDC4_ENST00000353170.5_Silent_p.A67A	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACTACCACCGCCTGTGAAA	0.577																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(370-372)gcG>gcT		kelch domain containing 4							113	110	111					16																	87782413		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87782413C>A	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.372G>T	16.37:g.87782413C>A			Somatic				KLHDC4_ENST00000347925.5_Silent_p.A124A|KLHDC4_ENST00000353170.5_Silent_p.A67A	p.A124A	NM_017566.3	NP_060036.2	WXS	Illumina GAIIx	Phase_I	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	430	-			124					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.372G>T	CCDS10963.1																																																																																				0.577	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		6	169	6	169	---	---	---	---	A	87782413	C	A	87782413	2	1	73	1	0	0	0	0	0	0	0	1	8358	639	23	1		1	KLHDC4	16	87782413	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9315813	87782413	2572340	362	3911										
SLC7A5	8140	broad.mit.edu	37	chr16	87874706	87874706	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgccagcacaatgttcccCacatccagtttggtgccttc	7	14	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.chr16:87874706C>A	ENST00000261622.4	-	3	785	c.720G>T	c.(718-720)gtG>gtT	p.V240V	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	240					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)	CAATGTTCCCCACATCCAGTT	0.517																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(718-720)gtG>gtT		solute carrier family 7 (amino acid transporter light chain, L system), member 5							207	181	190					16																	87874706		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:87874706C>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.720G>T	16.37:g.87874706C>A			Somatic				SLC7A5_ENST00000565644.1_5'UTR	p.V240V	NM_003486.5	NP_003477.4	WXS	Illumina GAIIx	Phase_I	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	785	-			240					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	c.720G>T	CCDS10964.1																																																																																				0.517	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		6	90	6	90	---	---	---	---	A	87874706	C	A	87874706	2	1	73	1	0	0	0	0	0	0	0	1	14700	581	21	1		1	SLC7A5	16	87874706	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	92293	87874706	2480047	363	3912										
ANKRD11	29123	broad.mit.edu	37	chr16	89348394	89348394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgagcctcgggccctcgtccCtggacttgtctttgagcacg	12	15	1	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.chr16:89348394C>A	ENST00000301030.4	-	9	5016	c.4556G>T	c.(4555-4557)aGg>aTg	p.R1519M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1519	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)		GCCCTCGTCCCTGGACTTGTC	0.612																																						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.(4555-4557)aGg>aTg		ankyrin repeat domain 11							74	71	72					16																	89348394		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348394C>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.4556G>T	16.37:g.89348394C>A	ENSP00000301030:p.Arg1519Met		Somatic				ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina GAIIx	Phase_I	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	5016	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1519			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4556G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700974	0.30142	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47528	0.84;0.84	5.11	0.908	0.19326	.	0.198904	0.39544	N	0.001330	T	0.40322	0.1112	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	P	0.46975	0.533	T	0.22906	-1.0203	10	0.87932	D	0	.	8.3458	0.32272	0.0:0.1949:0.0:0.8051	.	1519	Q6UB99	ANR11_HUMAN	M	1519	ENSP00000301030:R1519M;ENSP00000367581:R1519M	ENSP00000301030:R1519M	R	-	2	0	ANKRD11	87875895	1.000000	0.71417	0.500000	0.27589	0.221000	0.24807	2.035000	0.41155	-0.044000	0.13491	0.563000	0.77884	AGG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	91	6	91	---	---	---	---	A	89348394	C	A	89348394	3	1	73	1	0	0	0	0	1	0	0	0	639	681	24	1	3455	1	ANKRD11	16	89348394	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1473688	89348394	1006359	364	3913										
FANCA	2175	broad.mit.edu	37	chr16	89806480	89806480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggattgctgcacaaacgtGgaaagcctttggcaggtctg	14	8	1	0	rs200917877		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.chr16:89806480G>T	ENST00000389301.3	-	39	3886	c.3856C>A	c.(3856-3858)Cac>Aac	p.H1286N	FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1286					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)		GCACAAACGTGGAAAGCCTTT	0.542			"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.(3856-3858)Cac>Aac	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							153	153	153					16																	89806480		2198	4300	6498	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.chr16:89806480G>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.3856C>A	16.37:g.89806480G>T	ENSP00000373952:p.His1286Asn		Somatic				FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	p.H1286N	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	39	3886	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1286					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3856C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	5.266	0.234459	0.09969	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	T	0.77620	-1.11	5.34	1.04	0.20106	.	1.084070	0.07053	N	0.832254	T	0.59074	0.2167	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.41413	-0.9510	10	0.24483	T	0.36	-1.6371	10.5946	0.45329	0.0:0.5501:0.3756:0.0742	.	263;1286;1286	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	N	1286;263	ENSP00000373952:H1286N	ENSP00000306281:H263N	H	-	1	0	FANCA	88333981	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.318000	0.19504	0.313000	0.23062	-0.242000	0.12053	CAC		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			8	297	8	297	---	---	---	---	T	89806480	G	T	89806480	3	4	73	1	0	0	0	0	1	0	0	0	5662	1348	47	1	531	1	FANCA	16	89806480	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	458086	89806480	548273	365	3914										
GEMIN4	50628	broad.mit.edu	37	chr17	649429	649429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaattgcttttcttccttGggtgtagagaacttcatcca	7	8	2	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.chr17:649429G>T	ENST00000319004.5	-	2	1972	c.1854C>A	c.(1852-1854)ccC>ccA	p.P618P	GEMIN4_ENST00000576778.1_Silent_p.P607P	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	618					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)		TTTCTTCCTTGGGTGTAGAGA	0.507																																						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.(1819-1821)ccC>ccA		gem (nuclear organelle) associated protein 4							126	126	126					17																	649429		1894	4125	6019	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649429G>T	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.1854C>A	17.37:g.649429G>T			Somatic				GEMIN4_ENST00000319004.5_Silent_p.P618P	p.P607P			WXS	Illumina GAIIx	Phase_I	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	3162	-		Myeloproliferative disorder(207;0.204)	618					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1821C>A	CCDS45559.1																																																																																				0.507	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		8	161	8	161	---	---	---	---	T	649429	G	T	649429	2	4	73	1	0	0	0	0	0	0	0	1	6330	1335	47	1		1	GEMIN4	17	649429	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		649429	80545781	366	3915										
TUSC5	286753	broad.mit.edu	37	chr17	1198824	1198824	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggcaacgtggacggcgccCggaggctgggccgcctggct	19	13	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.chr17:1198824C>A	ENST00000333813.3	+	2	766	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	143					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.R143W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGACGGCGCCCGGAGGCTGGG	0.622																																						ENST00000333813.3																			1	Substitution - Missense(1)	p.R143W(1)	endometrium(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(427-429)Cgg>Agg		tumor suppressor candidate 5							92	109	104					17																	1198824		2096	4224	6320	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1198824C>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.427C>A	17.37:g.1198824C>A			Somatic					p.R143R	NM_172367.2	NP_758955.2	WXS	Illumina GAIIx	Phase_I	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	766	+			143					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.427C>A	CCDS42225.1																																																																																				0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		6	172	6	172	---	---	---	---	A	1198824	C	A	1198824	2	1	73	1	0	0	0	0	0	0	0	1	16776	643	23	1		1	TUSC5	17	1198824	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	549395	1198824	79996386	367	3916										
METT10D	79066	broad.mit.edu	37	chr17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcggcagcctcgccttccCgcagagcaggcccacagggg	14	17	0	1	rs201182820		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.chr17:2323643C>A	ENST00000263092.6	-	10	1437	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	437							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647																																						ENST00000263092.6																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1309-1311)cGg>cTg		methyltransferase like 16							54	61	59					17																	2323643		1828	4070	5898	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323643C>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1310G>T	17.37:g.2323643C>A	ENSP00000263092:p.Arg437Leu		Somatic				METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	p.R437L	NM_024086.3	NP_076991.3	WXS	Illumina GAIIx	Phase_I	Q86W50	MET16_HUMAN			10	1437	-								D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1310G>T	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357504	0.01245	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.42131	1.0;0.98	4.96	-9.91	0.00458	.	1.656050	0.03445	N	0.209819	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10800	-1.0614	10	0.20046	T	0.44	.	5.2765	0.15653	0.0792:0.3013:0.4229:0.1966	.	437	Q86W50	MET16_HUMAN	L	437;117;219	ENSP00000263092:R437L;ENSP00000443633:R219L	ENSP00000263092:R437L	R	-	2	0	METTL16	2270393	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.154000	0.01285	-3.074000	0.00252	0.511000	0.50034	CGG		0.647	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		6	175	6	175	---	---	---	---	A	2323643	C	A	2323643	3	1	73	1	0	0	0	0	1	0	0	0	9490	652	23	1	382	1	METT10D	17	2323643	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1124819	2323643	78871567	368	3917										
OR1A1	8383	broad.mit.edu	37	chr17	3119035	3119035	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaccccatcacattgattGgaaacctgctcatcgtccta	5	13	2	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.chr17:3119035G>T	ENST00000304094.1	+	1	121	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	41						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(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATTGATTGGAAACCTGCT	0.458																																						ENST00000304094.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(121-123)Gga>Tga		olfactory receptor, family 1, subfamily A, member 1							258	210	227					17																	3119035		2203	4300	6503	SO:0001587	stop_gained	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119035G>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"GPCR / Class A : Olfactory receptors"	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.121G>T	17.37:g.3119035G>T	ENSP00000305207:p.Gly41*		Somatic					p.G41*	NM_014565.2	NP_055380.2	WXS	Illumina GAIIx	Phase_I	Q9P1Q5	OR1A1_HUMAN			1	121	+			41					A5D914|Q6IFM1|Q6NTA9|Q96R87	Nonsense_Mutation	SNP	ENST00000304094.1	37	c.121G>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248806	0.95305	.	.	ENSG00000172146	ENST00000304094	.	.	.	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9321	0.86192	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000305207:G41X	G	+	1	0	OR1A1	3065785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.438000	0.90305	2.584000	0.87258	0.436000	0.28706	GGA		0.458	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		7	253	7	253	---	---	---	---	T	3119035	G	T	3119035	4	4	73	1	0	0	0	0	0	1	0	0	10949	1349	47	1	123	1	OR1A1	17	3119035	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	795392	3119035	78076175	369	3918										
PLD2	5338	broad.mit.edu	37	chr17	4713047	4713047	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggcctcacctgctgtggcCgagaccaagtttgttatcgc	11	13	1	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.chr17:4713047C>A	ENST00000263088.6	+	8	807	c.676C>A	c.(676-678)Cga>Aga	p.R226R	PLD2_ENST00000572940.1_Silent_p.R226R|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	226	PH.				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)	CTGCTGTGGCCGAGACCAAGT	0.597																																						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.(676-678)Cga>Aga		phospholipase D2	Choline(DB00122)						114	114	114					17																	4713047		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4713047C>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.676C>A	17.37:g.4713047C>A			Somatic				PLD2_ENST00000572940.1_Silent_p.R226R	p.R226R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			8	807	+			226			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.676C>A	CCDS11057.1																																																																																				0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	157	5	157	---	---	---	---	A	4713047	C	A	4713047	2	1	73	1	0	0	0	0	0	0	0	1	12046	644	23	1		1	PLD2	17	4713047	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1594012	4713047	76482163	370	3919										
SAT2	112483	broad.mit.edu	37	chr17	7530473	7530473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcttacccagtagcttccCgggcgctggaagaatctctg	11	13	2	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.chr17:7530473C>A	ENST00000269298.5	-	3	409	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000380450.4_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000340624.5_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000575903.1_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	64	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AGTAGCTTCCCGGGCGCTGGA	0.547																																						ENST00000269298.5																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	kidney(1)|large_intestine(2)	3						c.(190-192)Ggg>Tgg		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						50	56	54					17																	7530473		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7530473C>A	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 2"	611463	"spermidine/spermine N1-acetyltransferase 2"			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.190G>T	17.37:g.7530473C>A	ENSP00000269298:p.Gly64Trp		Somatic				SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron	p.G64W	NM_133491.3	NP_597998.1	WXS	Illumina GAIIx	Phase_I	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	3	409	-			64			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.190G>T	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918149	0.52546	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.43294	0.95	5.12	1.63	0.23807	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.622297	0.17332	N	0.178097	T	0.44582	0.1300	L	0.35723	1.085	0.09310	N	0.999998	D	0.65815	0.995	P	0.60415	0.874	T	0.17899	-1.0354	10	0.59425	D	0.04	-11.7476	6.7772	0.23626	0.0:0.6561:0.0:0.3438	.	64	Q96F10	SAT2_HUMAN	W	143;64	ENSP00000269298:G64W	ENSP00000269298:G64W	G	-	1	0	SAT2	7471198	0.000000	0.05858	0.003000	0.11579	0.164000	0.22412	0.258000	0.18387	0.575000	0.29434	0.557000	0.71058	GGG		0.547	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		5	94	5	94	---	---	---	---	A	7530473	C	A	7530473	3	1	73	1	0	0	0	0	1	0	0	0	13852	652	23	1	338	1	SAT2	17	7530473	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2817426	7530473	73664737	371	3920										
DNAH2	146754	broad.mit.edu	37	chr17	7696466	7696466	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccctggagctgatccgcctCtggattgactatggcttctg	11	13	2	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.chr17:7696466C>A	ENST00000572933.1	+	48	8972	c.7512C>A	c.(7510-7512)ctC>ctA	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3. {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)				TGATCCGCCTCTGGATTGACT	0.517																																						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.(7510-7512)ctC>ctA		dynein, axonemal, heavy chain 2							96	87	90					17																	7696466		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.chr17:7696466C>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.7512C>A	17.37:g.7696466C>A			Somatic				DNAH2_ENST00000389173.2_Silent_p.L2504L	p.L2504L			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			48	8972	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2504			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7512C>A	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	88	5	88	---	---	---	---	A	7696466	C	A	7696466	2	1	73	1	0	0	0	0	0	0	0	1	4602	900	32	3		3	DNAH2	17	7696466	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	165993	7696466	73498744	372	3921										
GLP2R	9340	broad.mit.edu	37	chr17	9757884	9757884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actccttctctcttatctccCtcttcctggctctcaccctc	2	20	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.chr17:9757884C>A	ENST00000262441.5	+	5	1090	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	193					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)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTTATCTCCCTCTTCCTGGC	0.512																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(577-579)Ctc>Atc		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						568	444	486					17																	9757884		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.chr17:9757884C>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.577C>A	17.37:g.9757884C>A	ENSP00000262441:p.Leu193Ile		Somatic				GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	p.L193I	NM_004246.1	NP_004237.1	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			5	1090	+			193					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.577C>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890386	0.52014	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37058	1.22	5.03	5.03	0.67393	GPCR, family 2-like (1);	0.000000	0.35903	N	0.002915	T	0.65407	0.2688	M	0.87758	2.905	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.71351	-0.4619	10	0.87932	D	0	.	16.2247	0.82284	0.0:1.0:0.0:0.0	.	193	O95838	GLP2R_HUMAN	I	193;168;193	ENSP00000262441:L193I	ENSP00000262441:L193I	L	+	1	0	GLP2R	9698609	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.045000	0.57368	2.760000	0.94817	0.655000	0.94253	CTC		0.512	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			8	345	8	345	---	---	---	---	A	9757884	C	A	9757884	3	1	73	1	0	0	0	0	1	0	0	0	6453	681	24	1	595	1	GLP2R	17	9757884	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2061418	9757884	71437326	373	3922										
MYH8	4626	broad.mit.edu	37	chr17	10295964	10295964	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccttcaagctcacgtacCtgcagccaagaaaaatactt	5	13	3	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.chr17:10295964C>A	ENST00000403437.2	-	38	5558		c.e38-1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						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						GCTCACGTACCTGCAGCCAAG	0.478									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							146	138	141					17																	10295964		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.chr17:10295964C>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.5464-1G>T	17.37:g.10295964C>A			Somatic				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA		NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			38	5558	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37		CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936703	0.73442	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2606	0.90034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10236689	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	7.416000	0.80143	2.522000	0.85027	0.650000	0.86243	.		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	7	168	7	168	---	---	---	---	A	10295964	C	A	10295964	5	1	73	1	0	0	0	0	0	0	1	0	10041	695	24	1	362	1	MYH8	17	10295964	Splice_Site	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	538080	10295964	70899246	374	3923										
SMCR8	140775	broad.mit.edu	37	chr17	18219210	18219210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtactcggtgccgctcttccCcttcgccagtcagggtgcta	11	15	2	0	rs147939354	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.chr17:18219210C>A	ENST00000406438.3	+	1	587	c.107C>A	c.(106-108)cCc>cAc	p.P36H	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	36						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						CCGCTCTTCCCCTTCGCCAGT	0.567																																						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.(106-108)cCc>cAc		Smith-Magenis syndrome chromosome region, candidate 8		C	HIS/PRO	0,4406		0,0,2203	87	89	88		107	6.1	1	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	SMCR8	NM_144775.2	77	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging	36/938	18219210	2,13004	2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219210C>A	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.107C>A	17.37:g.18219210C>A	ENSP00000385025:p.Pro36His		Somatic					p.P36H	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	587	+			36					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.107C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117565	0.77323	0.0	2.33E-4	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.11	6.11	0.99139	.	0.054528	0.85682	D	0.000000	T	0.48960	0.1529	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.41875	-0.9484	10	0.87932	D	0	-29.6245	20.7342	0.99715	0.0:1.0:0.0:0.0	.	36	Q8TEV9	SMCR8_HUMAN	H	36	ENSP00000385025:P36H	ENSP00000385025:P36H	P	+	2	0	SMCR8	18159935	0.999000	0.42202	0.982000	0.44146	0.826000	0.46750	5.496000	0.66918	2.906000	0.99361	0.655000	0.94253	CCC		0.567	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		6	79	6	79	---	---	---	---	A	18219210	C	A	18219210	3	1	73	1	0	0	0	0	1	0	0	0	14792	623	22	1	109	1	SMCR8	17	18219210	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	7923246	18219210	62976000	375	3924										
SPAG5	10615	broad.mit.edu	37	chr17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctccagatcttgctcctGgttatctgctatggtgctgg	10	10	3	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.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*		Somatic					p.Q860*	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	A	26910636	G	A	26910636	4	1	73	1	0	0	0	0	0	1	0	0	14981	1357	47	2	1043	2	SPAG5	17	26910636	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	8691426	26910636	54284574	376	3925										
TLCD1	116238	broad.mit.edu	37	chr17	27051565	27051565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctttgtgttgcttcttgGggacatgctcagggcagaag	14	7	3	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.chr17:27051565G>T	ENST00000292090.3	-	4	817	c.707C>A	c.(706-708)cCc>cAc	p.P236H	SNORD4A_ENST00000459174.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H|AC010761.14_ENST00000587898.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TTGCTTCTTGGGGACATGCTC	0.527																																						ENST00000292090.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(2)	7						c.(706-708)cCc>cAc		TLC domain containing 1							173	163	166					17																	27051565		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051565G>T	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.707C>A	17.37:g.27051565G>T	ENSP00000292090:p.Pro236His		Somatic				TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H	p.P236H	NM_138463.3	NP_612472.1	WXS	Illumina GAIIx	Phase_I	Q96CP7	TLCD1_HUMAN			4	817	-	Lung NSC(42;0.00431)		236					A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.707C>A	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225396	0.22457	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	.	.	.	5.55	5.55	0.83447	.	0.622257	0.16427	N	0.214902	T	0.38480	0.1042	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.17465	0.022;0.022	B;B	0.16722	0.016;0.01	T	0.29088	-1.0023	9	0.56958	D	0.05	-5.6786	12.9658	0.58483	0.0:0.1749:0.8251:0.0	.	189;236	A8MYP9;Q96CP7	.;TLCD1_HUMAN	H	236;189	.	ENSP00000292090:P236H	P	-	2	0	TLCD1	24075692	0.510000	0.26171	0.120000	0.21714	0.093000	0.18481	3.541000	0.53618	2.628000	0.89032	0.462000	0.41574	CCC		0.527	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		7	184	7	184	---	---	---	---	T	27051565	G	T	27051565	3	4	73	1	0	0	0	0	1	0	0	0	15934	1232	43	1	40	1	TLCD1	17	27051565	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	140929	27051565	54143645	377	3926										
MRM1	79154	broad.mit.edu	37	chr17	34958334	34958334	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggggagcggcctggtgGggaggagctaagccgcttgc	20	9	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.chr17:34958334G>T	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.G32V|MRM1_ENST00000585770.1_5'Flank	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CGGCCTGGTGGGGAGGAGCTA	0.677																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(94-96)gGg>gTg		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							61	62	62					17																	34958334		2202	4300	6502	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958334G>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958334G>T			Somatic					p.G32V	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	334	+		Breast(25;0.00957)|Ovarian(249;0.17)	32					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.95G>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311303	0.81358	.	.	ENSG00000129282	ENST00000250156	T	0.55052	0.54	4.79	4.79	0.61399	.	0.154450	0.46145	D	0.000305	T	0.58864	0.2152	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	T	0.60821	-0.7187	10	0.59425	D	0.04	-24.9592	15.0349	0.71738	0.0:0.0:1.0:0.0	.	32	Q6IN84	MRM1_HUMAN	V	32	ENSP00000250156:G32V	ENSP00000250156:G32V	G	+	2	0	MRM1	32032447	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	3.171000	0.50824	2.654000	0.90174	0.555000	0.69702	GGG		0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		6	106	6	106	---	---	---	---	T	34958334	G	T	34958334	1	4	73	0	1	0	0	0	0	0	0	0	9771	1232	43	1		1	MRM1	17	34958334	IGR	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	7906769	34958334	46236876	378	3927										
MRM1	79922	broad.mit.edu	37	chr17	34964758	34964758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcagcttctccaagacccCcaagaaccctcagccaggtc	8	17	2	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.chr17:34964758C>A	ENST00000585770.1	+	5	642	c.384C>A	c.(382-384)ccC>ccA	p.P128P	MRM1_ENST00000250156.7_Silent_p.P323P					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAAGACCCCCAAGAACCCT	0.567																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(967-969)ccC>ccA		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							127	131	129					17																	34964758		2203	4300	6503	SO:0001819	synonymous_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964758C>A	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.384C>A	17.37:g.34964758C>A			Somatic				MRM1_ENST00000585770.1_Silent_p.P128P	p.P323P	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	5	1208	+		Breast(25;0.00957)|Ovarian(249;0.17)	323						Silent	SNP	ENST00000585770.1	37	c.969C>A																																																																																					0.567	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864		7	157	7	157	---	---	---	---	A	34964758	C	A	34964758	2	1	73	1	0	0	0	0	0	0	0	1	9771	610	22	1		1	MRM1	17	34964758	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6424	34964758	46230452	379	3928										
MLLT6	4302	broad.mit.edu	37	chr17	36865473	36865473	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggagagcaaggcggcctcGggagcctgcatgacctgtaa	16	11	0	2	rs144559323		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.chr17:36865473G>T	ENST00000325718.7	+	5	493	c.402G>T	c.(400-402)tcG>tcT	p.S134S	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Silent_p.S134S	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	134					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S134S(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGCGGCCTCGGGAGCCTGCA	0.642			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		1	Substitution - coding silent(1)	p.S134S(1)	lung(1)	breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(400-402)tcG>tcT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							129	134	132					17																	36865473		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36865473G>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.402G>T	17.37:g.36865473G>T			Somatic				MLLT6_ENST00000378137.5_Silent_p.S134S	p.S134S	NM_005937.3	NP_005928	WXS	Illumina GAIIx	Phase_I	P55198	AF17_HUMAN			5	493	+	Breast(7;4.43e-21)		134					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.402G>T	CCDS11327.1																																																																																				0.642	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		8	278	8	278	---	---	---	---	T	36865473	G	T	36865473	2	4	73	1	0	0	0	0	0	0	0	1	9630	1103	39	1		1	MLLT6	17	36865473	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1900715	36865473	44329737	380	3929										
KRT13	3860	broad.mit.edu	37	chr17	39659272	39659272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcatctctgccagcacgcGggtcaggtcaatgcctgggg	13	14	4	0	rs202015813		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.chr17:39659272G>T	ENST00000246635.3	-	4	860	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R272S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602																																						ENST00000246635.3																			1	Substitution - Missense(1)	p.R272S(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(814-816)Cgc>Agc		keratin 13							222	210	214					17																	39659272		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659272G>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.814C>A	17.37:g.39659272G>T	ENSP00000246635:p.Arg272Ser		Somatic				KRT13_ENST00000336861.3_Missense_Mutation_p.R272S|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S	p.R272S	NM_153490.2	NP_705694	WXS	Illumina GAIIx	Phase_I	P13646	K1C13_HUMAN			4	860	-		Breast(137;0.000286)	272			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.814C>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835396	0.71373	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.77620	-1.11;-1.11	4.32	4.32	0.51571	Filament (1);	0.000000	0.47852	D	0.000209	T	0.77665	0.4164	N	0.20766	0.605	0.39278	D	0.964508	P;D;P;D	0.56968	0.947;0.978;0.947;0.978	P;D;P;D	0.71414	0.79;0.973;0.79;0.973	T	0.80374	-0.1409	10	0.66056	D	0.02	.	10.5407	0.45031	0.0:0.0:0.666:0.334	.	260;272;272;272	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	S	272;272;260	ENSP00000246635:R272S;ENSP00000336604:R272S	ENSP00000157775:R260S	R	-	1	0	KRT13	36912798	0.087000	0.21565	0.998000	0.56505	0.884000	0.51177	1.928000	0.40104	2.401000	0.81631	0.561000	0.74099	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	329	6	329	---	---	---	---	T	39659272	G	T	39659272	3	4	73	1	0	0	0	0	1	0	0	0	8450	1116	39	1	582	1	KRT13	17	39659272	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2793799	39659272	41535938	381	3930										
STAT3	6774	broad.mit.edu	37	chr17	40481454	40481454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attggctcggcccccattccCacatctctgctccctcaggg	8	18	2	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.chr17:40481454C>A	ENST00000264657.5	-	14	1567	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	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)	419					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)		CCCCCATTCCCACATCTCTGC	0.522									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.(1255-1257)Ggg>Tgg		signal transducer and activator of transcription 3 (acute-phase response factor)							189	201	197					17																	40481454		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.chr17:40481454C>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.1255G>T	17.37:g.40481454C>A	ENSP00000264657:p.Gly419Trp		Somatic				STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	p.G419W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	14	1567	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	419					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1255G>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232199	0.79688	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88201	-2.35;-2.35;-2.35	5.49	5.49	0.81192	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	0.92967	0.7762	L	0.49778	1.585	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.71414	0.955;0.973;0.946	D	0.93004	0.6426	10	0.72032	D	0.01	-11.5987	19.5755	0.95441	0.0:1.0:0.0:0.0	.	419;419;419	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	W	419;321;419	ENSP00000264657:G419W;ENSP00000373923:G321W;ENSP00000384943:G419W	ENSP00000264657:G419W	G	-	1	0	STAT3	37734980	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.456000	0.60081	2.865000	0.98341	0.655000	0.94253	GGG		0.522	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	325	8	325	---	---	---	---	A	40481454	C	A	40481454	3	1	73	1	0	0	0	0	1	0	0	0	15265	594	21	1	1101	1	STAT3	17	40481454	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	822182	40481454	40713756	382	3931										
TUBG1	7283	broad.mit.edu	37	chr17	40764504	40764504	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggactgggttcctacctCttagaacggctgaatgacag	11	10	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.chr17:40764504C>A	ENST00000251413.3	+	5	521	c.459C>A	c.(457-459)ctC>ctA	p.L153L	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	153					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GTTCCTACCTCTTAGAACGGC	0.517																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(457-459)ctC>ctA		tubulin, gamma 1							175	166	169					17																	40764504		2203	4300	6503	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40764504C>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.459C>A	17.37:g.40764504C>A			Somatic					p.L153L	NM_001070.4	NP_001061.2	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	521	+		Breast(137;0.00116)	153					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.459C>A	CCDS11433.1																																																																																				0.517	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		6	160	6	160	---	---	---	---	A	40764504	C	A	40764504	2	1	73	1	0	0	0	0	0	0	0	1	16761	900	32	3		3	TUBG1	17	40764504	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	283050	40764504	40430706	383	3932										
BRCA1	672	broad.mit.edu	37	chr17	41246133	41246133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttacatggcttaagttgGggaggcttgccttcttccga	12	9	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.chr17:41246133G>T	ENST00000357654.3	-	10	1533	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.P176H|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	472					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|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)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTAAGTTGGGGAGGCTTGC	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(526-528)cCc>cAc	Homologous recombination	breast cancer 1, early onset							129	127	127					17																	41246133		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246133G>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1415C>A	17.37:g.41246133G>T	ENSP00000350283:p.Pro472His	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H|BRCA1_ENST00000357654.3_Missense_Mutation_p.P472H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron	p.P176H	NM_007297.3	NP_009228.2	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1554	-		Breast(137;0.000717)	472					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.527C>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	7.759	0.704951	0.15172	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;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;-3.25;-3.25	4.57	2.56	0.30785	.	0.504369	0.18606	N	0.136287	D	0.96981	0.9014	H	0.94306	3.52	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.992;0.998	D;D;D;D;D;D	0.87578	0.947;0.947;0.998;0.996;0.938;0.967	D	0.90693	0.4614	10	0.87932	D	0	-2.7546	7.6713	0.28460	0.2631:0.0:0.7369:0.0	.	472;431;472;472;472;472	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	H	472;472;472;472;176;472;425;472;446;176;472	ENSP00000350283:P472H;ENSP00000326002:P472H;ENSP00000246907:P472H;ENSP00000310938:P176H;ENSP00000418960:P472H;ENSP00000418775:P425H;ENSP00000419274:P472H;ENSP00000419988:P446H;ENSP00000418986:P176H;ENSP00000419103:P472H	ENSP00000310938:P176H	P	-	2	0	BRCA1	38499659	0.003000	0.15002	0.012000	0.15200	0.006000	0.05464	0.655000	0.24933	0.647000	0.30713	0.561000	0.74099	CCC		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	149	7	149	---	---	---	---	T	41246133	G	T	41246133	3	4	73	1	0	0	0	0	1	0	0	0	1498	1232	43	1	4302	1	BRCA1	17	41246133	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	481629	41246133	39949077	384	3933										
PPP1R9B	84687	broad.mit.edu	37	chr17	48216821	48216821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacttgtgcaccagcttctcGggctccatgtccacagggga	11	13	1	0	rs72840637		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.chr17:48216821G>T	ENST00000316878.6	-	8	1988	c.1986C>A	c.(1984-1986)ccC>ccA	p.P662P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	662	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)	p.P661P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCAGCTTCTCGGGCTCCATGT	0.632																																						ENST00000316878.6																			1	Substitution - coding silent(1)	p.P661P(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1984-1986)ccC>ccA		protein phosphatase 1, regulatory subunit 9B							154	167	163					17																	48216821		2139	4243	6382	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.chr17:48216821G>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.1986C>A	17.37:g.48216821G>T			Somatic				AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	p.P662P	NM_032595.3	NP_115984.3	WXS	Illumina GAIIx	Phase_I	Q96SB3	NEB2_HUMAN			8	1988	-			662			Interacts with TGN38 (By similarity).		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.1986C>A																																																																																					0.632	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		6	216	6	216	---	---	---	---	T	48216821	G	T	48216821	2	4	73	1	0	0	0	0	0	0	0	1	12379	1103	39	1		1	PPP1R9B	17	48216821	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	6970688	48216821	32978389	385	3934										
PPP1R9B	84687	broad.mit.edu	37	chr17	48221049	48221049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccatgtctgccccggcgccCatgccgatgatgctgatgcc	11	17	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.chr17:48221049C>A	ENST00000316878.6	-	5	1535	c.1533G>T	c.(1531-1533)atG>atT	p.M511I	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	511	Interacts with RGS2. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CCCCGGCGCCCATGCCGATGA	0.632																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1531-1533)atG>atT		protein phosphatase 1, regulatory subunit 9B							78	87	84					17																	48221049		2093	4219	6312	SO:0001583	missense	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.chr17:48221049C>A	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.1533G>T	17.37:g.48221049C>A	ENSP00000475417:p.Met511Ile		Somatic				AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	p.M511I	NM_032595.3	NP_115984.3	WXS	Illumina GAIIx	Phase_I	Q96SB3	NEB2_HUMAN			5	1535	-			511			Interacts with RGS2 (By similarity).|PDZ.		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1533G>T																																																																																					0.632	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		7	113	7	113	---	---	---	---	A	48221049	C	A	48221049	3	1	73	1	0	0	0	0	1	0	0	0	12379	594	21	1	946	1	PPP1R9B	17	48221049	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4228	48221049	32974161	386	3935										
C17orf47	284083	broad.mit.edu	37	chr17	56619235	56619235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccactcctcacctgtcctccCatcccccaagctcccacagt	3	23	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.chr17:56619235C>A	ENST00000321691.3	-	2	1835	c.1654G>T	c.(1654-1656)Ggg>Tgg	p.G552W	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	552										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)					CCTGTCCTCCCATCCCCCAAG	0.488																																						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.(1654-1656)Ggg>Tgg		chromosome 17 open reading frame 47							153	143	146					17																	56619235		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56619235C>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.1654G>T	17.37:g.56619235C>A	ENSP00000354874:p.Gly552Trp		Somatic				RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.G552W	NM_001038704.2	NP_001033793	WXS	Illumina GAIIx	Phase_I	Q8NEP4	CQ047_HUMAN			2	1835	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		552					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1654G>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938469	0.52972	.	.	ENSG00000181013	ENST00000321691	T	0.33654	1.4	5.14	-0.757	0.11054	.	1.462170	0.04091	N	0.311225	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	P	0.37955	0.612	B	0.33750	0.169	T	0.21075	-1.0256	10	0.66056	D	0.02	1.0306	3.821	0.08836	0.1766:0.2986:0.0:0.5248	.	552	Q8NEP4	CQ047_HUMAN	W	552	ENSP00000354874:G552W	ENSP00000354874:G552W	G	-	1	0	C17orf47	53974234	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.075000	0.11431	-0.014000	0.14175	0.555000	0.69702	GGG		0.488	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		6	158	6	158	---	---	---	---	A	56619235	C	A	56619235	3	1	73	1	0	0	0	0	1	0	0	0	1858	594	21	1	62	1	C17orf47	17	56619235	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8398186	56619235	24575975	387	3936										
CA4	762	broad.mit.edu	37	chr17	58236707	58236707	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgataaagtccggggccccGggtcggccgctgccctgggc	17	14	0	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.chr17:58236707G>T	ENST00000300900.4	+	8	960	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	287					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)	CCGGGGCCCCGGGTCGGCCGC	0.662																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(859-861)ccG>ccT		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)						13	12	13					17																	58236707		2197	4293	6490	SO:0001819	synonymous_variant	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.chr17:58236707G>T	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.861G>T	17.37:g.58236707G>T			Somatic					p.P287P	NM_000717.3	NP_000708.1	WXS	Illumina GAIIx	Phase_I	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		8	960	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		287					B4DQA4|Q6FHI7	Silent	SNP	ENST00000300900.4	37	c.861G>T	CCDS11624.1																																																																																				0.662	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		4	11	4	11	---	---	---	---	T	58236707	G	T	58236707	2	4	73	1	0	0	0	0	0	0	0	1	2518	1103	39	1		1	CA4	17	58236707	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1617472	58236707	22958503	388	3937										
USP32	84669	broad.mit.edu	37	chr17	58422902	58422902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggatgaagcagtgctggccCatgtaatatgagagtccaca	12	9	0	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.chr17:58422902C>A	ENST00000300896.4	-	2	320	c.126G>T	c.(124-126)atG>atT	p.M42I	USP32_ENST00000393003.3_Missense_Mutation_p.M42I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	42					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)			AGTGCTGGCCCATGTAATATG	0.438																																						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.(124-126)atG>atT		ubiquitin specific peptidase 32							131	114	119					17																	58422902		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.chr17:58422902C>A	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.126G>T	17.37:g.58422902C>A	ENSP00000300896:p.Met42Ile		Somatic				USP32_ENST00000393003.3_Missense_Mutation_p.M42I	p.M42I	NM_032582.3	NP_115971.2	WXS	Illumina GAIIx	Phase_I	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		2	320	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		42					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.126G>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379738	0.61845	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.30981	1.51;1.51	5.25	5.25	0.73442	EF-hand-like domain (1);	0.081846	0.85682	D	0.000000	T	0.34193	0.0889	L	0.31926	0.97	0.80722	D	1	P;B	0.35872	0.525;0.141	P;B	0.45428	0.48;0.028	T	0.03587	-1.1022	10	0.20046	T	0.44	.	18.5086	0.90907	0.0:1.0:0.0:0.0	.	42;42	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	I	42	ENSP00000300896:M42I;ENSP00000376727:M42I	ENSP00000300896:M42I	M	-	3	0	USP32	55777684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.475000	0.83589	0.543000	0.68304	ATG		0.438	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	78	5	78	---	---	---	---	A	58422902	C	A	58422902	3	1	73	1	0	0	0	0	1	0	0	0	17060	594	21	1	4820	1	USP32	17	58422902	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	186195	58422902	22772308	389	3938										
EVPL	2125	broad.mit.edu	37	chr17	74003831	74003831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagctgtcatcaccgagccCgagagagaagctgggagaga	15	9	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.chr17:74003831C>A	ENST00000301607.3	-	22	5708	c.5455G>T	c.(5455-5457)Ggg>Tgg	p.G1819W	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1819	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						TCACCGAGCCCGAGAGAGAAG	0.597																																						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.(5455-5457)Ggg>Tgg		envoplakin							116	127	123					17																	74003831		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003831C>A	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.5455G>T	17.37:g.74003831C>A	ENSP00000301607:p.Gly1819Trp		Somatic				EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	p.G1819W	NM_001988.2	NP_001979.2	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			22	5708	-			1819			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5455G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840715	0.16891	.	.	ENSG00000167880	ENST00000301607	T	0.69806	-0.43	5.25	4.28	0.50868	.	0.279802	0.36893	N	0.002349	T	0.73001	0.3531	L	0.44542	1.39	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.949	T	0.64330	-0.6433	10	0.66056	D	0.02	-73.0209	10.4237	0.44365	0.0:0.8495:0.0:0.1505	.	1841;1819	B7ZLH8;Q92817	.;EVPL_HUMAN	W	1819	ENSP00000301607:G1819W	ENSP00000301607:G1819W	G	-	1	0	EVPL	71515426	0.866000	0.29940	0.300000	0.25030	0.260000	0.26232	1.641000	0.37197	1.197000	0.43143	0.549000	0.68633	GGG		0.597	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	166	5	166	---	---	---	---	A	74003831	C	A	74003831	3	1	73	1	0	0	0	0	1	0	0	0	5292	652	23	1	650	1	EVPL	17	74003831	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	15580929	74003831	7191379	390	3939										
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74622831	74622831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagaaggatgtccgagtccCcacatcctgttcgtagcctt	10	12	0	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.chr17:74622831C>A	ENST00000156626.7	-	5	1412	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	ST6GALNAC1_ENST00000590878.1_5'Flank	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	405					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						GTCCGAGTCCCCACATCCTGT	0.522																																						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.(1213-1215)Ggg>Tgg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							228	237	234					17																	74622831		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622831C>A	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.1213G>T	17.37:g.74622831C>A	ENSP00000156626:p.Gly405Trp		Somatic					p.G405W	NM_018414.3	NP_060884.1	WXS	Illumina GAIIx	Phase_I	Q9NSC7	SIA7A_HUMAN			5	1412	-			405					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1213G>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913314	0.72983	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	D;D	0.87029	-2.2;-2.2	4.84	3.86	0.44501	.	0.062998	0.64402	D	0.000006	D	0.95182	0.8438	H	0.97186	3.955	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95498	0.8575	10	0.62326	D	0.03	-23.6653	11.7008	0.51569	0.0:0.9169:0.0:0.0831	.	405	Q9NSC7	SIA7A_HUMAN	W	405	ENSP00000156626:G405W;ENSP00000351991:G405W	ENSP00000156626:G405W	G	-	1	0	ST6GALNAC1	72134426	1.000000	0.71417	0.989000	0.46669	0.925000	0.55904	6.452000	0.73485	1.177000	0.42855	0.436000	0.28706	GGG		0.522	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	291	8	291	---	---	---	---	A	74622831	C	A	74622831	3	1	73	1	0	0	0	0	1	0	0	0	15222	623	22	1	609	1	ST6GALNAC1	17	74622831	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	619000	74622831	6572379	391	3940										
CBX4	8535	broad.mit.edu	37	chr17	77808663	77808663	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcacgatcacgatgcgtcCgttcttgttcttgttcttga	8	11	5	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.chr17:77808663C>A	ENST00000269397.4	-	5	955	c.778G>T	c.(778-780)Gga>Tga	p.G260*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	260	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)			ACGATGCGTCCGTTCTTGTTC	0.592											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.(778-780)Gga>Tga		chromobox homolog 4							272	248	256					17																	77808663		2201	4292	6493	SO:0001587	stop_gained	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.chr17:77808663C>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.778G>T	17.37:g.77808663C>A	ENSP00000269397:p.Gly260*		Somatic	OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.G260*	NM_003655.2	NP_003646.2	WXS	Illumina GAIIx	Phase_I	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	955	-			260			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Nonsense_Mutation	SNP	ENST00000269397.4	37	c.778G>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	37	6.500954	0.97616	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.98	3.98	0.46160	.	0.858235	0.09475	U	0.797198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1123	16.0829	0.81017	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000269397:G260X	G	-	1	0	CBX4	75423258	1.000000	0.71417	0.990000	0.47175	0.913000	0.54294	7.116000	0.77119	1.779000	0.52309	0.306000	0.20318	GGA		0.592	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	340	7	340	---	---	---	---	A	77808663	C	A	77808663	4	1	73	1	0	0	0	0	0	1	0	0	2720	661	23	1	908	1	CBX4	17	77808663	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3185832	77808663	3386547	392	3941										
SLC25A10	1468	broad.mit.edu	37	chr17	79682751	79682751	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaggcttcgtggggacgccCgcagacttggtcaacgtcag	16	11	2	1	rs141437548		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.chr17:79682751C>A	ENST00000350690.5	+	4	443	c.357C>A	c.(355-357)ccC>ccA	p.P119P	SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000331531.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P|SLC25A10_ENST00000571730.1_Silent_p.P274P	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	119					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|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)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGGGACGCCCGCAGACTTGG	0.657																																						ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(355-357)ccC>ccA		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						104	109	107					17																	79682751		2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682751C>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.357C>A	17.37:g.79682751C>A			Somatic				SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000571730.1_Silent_p.P274P|SLC25A10_ENST00000350690.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P	p.P119P	NM_001270888.1	NP_001257817.1	WXS	Illumina GAIIx	Phase_I	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	477	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		119					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.357C>A	CCDS11786.1																																																																																				0.657	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			6	139	6	139	---	---	---	---	A	79682751	C	A	79682751	2	1	73	1	0	0	0	0	0	0	0	1	14472	639	23	1		1	SLC25A10	17	79682751	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1874088	79682751	1512459	393	3942										
HEXDC	284004	broad.mit.edu	37	chr17	80399061	80399061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagggggccggctccttccCtggcagcaacatccttgccc	13	16	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.chr17:80399061C>A	ENST00000327949.9	+	10	1093	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H	HEXDC_ENST00000337014.6_Missense_Mutation_p.L391M|HEXDC_ENST00000577944.1_Silent_p.P363P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	361					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)			GGCTCCTTCCCTGGCAGCAAC	0.657																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1171-1173)Ctg>Atg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							62	69	67					17																	80399061		2021	4182	6203	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80399061C>A	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.1082C>A	17.37:g.80399061C>A	ENSP00000332634:p.Pro361His		Somatic				HEXDC_ENST00000327949.9_Missense_Mutation_p.P361H|HEXDC_ENST00000577944.1_Silent_p.P363P	p.L391M	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		10	1645	+	Breast(20;0.00106)|all_neural(118;0.0804)		0					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1171C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.217894|2.217894	0.39201|0.39201	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000337014|ENST00000327949	T|T	0.42900|0.38240	0.96|1.15	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	1.302630|.	0.05130|.	N|.	0.492347|.	T|T	0.62672|0.62672	0.2447|0.2447	.|.	.|.	.|.	0.58432|0.58432	D|D	0.99999|0.99999	D|D	0.58620|0.89917	0.983|1.0	P|D	0.58873|0.80764	0.847|0.994	T|T	0.67929|0.67929	-0.5543|-0.5543	9|8	0.42905|0.87932	T|D	0.14|0	-3.5713|-3.5713	17.5129|17.5129	0.87765|0.87765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	391|361	Q8WVB3-2|Q8WVB3	.|HEXDC_HUMAN	M|H	391|361	ENSP00000337854:L391M|ENSP00000332634:P361H	ENSP00000337854:L391M|ENSP00000332634:P361H	L|P	+|+	1|2	2|0	HEXDC|HEXDC	77992350|77992350	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.057000|0.057000	0.15508|0.15508	5.613000|5.613000	0.67688|0.67688	2.374000|2.374000	0.81015|0.81015	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		6	126	6	126	---	---	---	---	A	80399061	C	A	80399061	3	1	73	1	0	0	0	0	1	0	0	0	7075	680	24	1	1205	1	HEXDC	17	80399061	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	716310	80399061	796149	394	3943										
PPP4R1	9989	broad.mit.edu	37	chr18	9570166	9570166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttccatacctttaacatctGgatcatcaatgtggggctct	7	11	4	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.chr18:9570166G>T	ENST00000400556.3	-	11	1635	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	521					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						TTTAACATCTGGATCATCAAT	0.353																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1561-1563)cCa>cAa		protein phosphatase 4, regulatory subunit 1							119	113	115					18																	9570166		1824	4089	5913	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570166G>T	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.1562C>A	18.37:g.9570166G>T	ENSP00000383402:p.Pro521Gln		Somatic				PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	p.P521Q	NM_001042388.2	NP_001035847.1	WXS	Illumina GAIIx	Phase_I	Q8TF05	PP4R1_HUMAN			11	1635	-			521					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1562C>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220695	0.79464	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.18338	2.22;2.22	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.81802	2.56	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	T	0.41413	-0.9510	9	.	.	.	-19.9902	19.5973	0.95546	0.0:0.0:1.0:0.0	.	504;521;504	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	Q	521;504;432	ENSP00000383402:P521Q;ENSP00000383401:P504Q	.	P	-	2	0	PPP4R1	9560166	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	7.894000	0.87336	2.700000	0.92200	0.591000	0.81541	CCA		0.353	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		5	100	5	100	---	---	---	---	T	9570166	G	T	9570166	3	4	73	1	0	0	0	0	1	0	0	0	12403	1348	47	1	1330	1	PPP4R1	18	9570166	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		9570166	68507082	395	3944										
ESCO1	114799	broad.mit.edu	37	chr18	19154035	19154035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcatctcattctttttcGggaccactgaagtagccatt	6	11	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.chr18:19154035G>T	ENST00000269214.5	-	4	1707	c.770C>A	c.(769-771)cCg>cAg	p.P257Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	257					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.P257Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTTCGGGACCACTGA	0.413																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.P257Q(1)	lung(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(769-771)cCg>cAg		establishment of sister chromatid cohesion N-acetyltransferase 1							212	213	212					18																	19154035		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.chr18:19154035G>T	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.770C>A	18.37:g.19154035G>T	ENSP00000269214:p.Pro257Gln		Somatic					p.P257Q	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	Q5FWF5	ESCO1_HUMAN			4	1707	-			257					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.770C>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	3.207	-0.162437	0.06502	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59772	0.24;1.78	5.5	2.67	0.31697	.	0.729321	0.12777	N	0.439945	T	0.37571	0.1008	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.27262	0.078	T	0.19712	-1.0297	10	0.29301	T	0.29	-7.2769	8.7342	0.34519	0.0768:0.2858:0.6374:0.0	.	257	Q5FWF5	ESCO1_HUMAN	Q	257	ENSP00000269214:P257Q;ENSP00000372763:P257Q	ENSP00000269214:P257Q	P	-	2	0	ESCO1	17408033	0.973000	0.33851	0.554000	0.28268	0.196000	0.23810	2.101000	0.41787	0.264000	0.21851	0.655000	0.94253	CCG		0.413	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		7	327	7	327	---	---	---	---	T	19154035	G	T	19154035	3	4	73	1	0	0	0	0	1	0	0	0	5248	1116	39	1	1788	1	ESCO1	18	19154035	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	9583869	19154035	58923213	396	3945										
MIB1	57534	broad.mit.edu	37	chr18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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	SNORA73_ENST00000363107.1_RNA|MIB1_ENST00000578646.1_3'UTR	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.(1564-1569)gatttgfs		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		Somatic				MIB1_ENST00000578646.1_3'UTR	p.L523fs	NM_020774.2	NP_065825.1	WXS	Illumina GAIIx	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1829_1830	+			523					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	73	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	241627	19395662	58681586	397	3946										
GATA6	2627	broad.mit.edu	37	chr18	19780663	19780663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgggagagagcaccaatccCgagaacagcgagctcaagta	13	11	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.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					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)			GCACCAATCCCGAGAACAGCG	0.607																																					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.(1663-1665)ccC>ccA		GATA binding protein 6							99	89	93					18																	19780663		2203	4300	6503	SO:0001819	synonymous_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.chr18:19780663C>A	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.1665C>A	18.37:g.19780663C>A			Somatic				RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	p.P555P	NM_005257.4	NP_005248.2	WXS	Illumina GAIIx	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1942	+	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)		555					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1665C>A	CCDS11872.1																																																																																				0.607	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		5	134	5	134	---	---	---	---	A	19780663	C	A	19780663	2	1	73	1	0	0	0	0	0	0	0	1	6258	639	23	1		1	GATA6	18	19780663	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	385001	19780663	58296585	398	3947										
DSG4	147409	broad.mit.edu	37	chr18	28993143	28993143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctgaacccgtggtccatgGggatattattgtgactgaga	12	7	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.chr18:28993143G>T	ENST00000308128.4	+	16	2843	c.2708G>T	c.(2707-2709)gGg>gTg	p.G903V	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.G922V|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	903					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)			GTGGTCCATGGGGATATTATT	0.423																																						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.(2764-2766)gGg>gTg		desmoglein 4							154	145	148					18																	28993143		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993143G>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.2708G>T	18.37:g.28993143G>T	ENSP00000311859:p.Gly903Val		Somatic				DSG4_ENST00000308128.4_Missense_Mutation_p.G903V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.G922V	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2794	+			903					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2765G>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508298	0.44660	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.68903	-0.36;-0.35	5.65	5.65	0.86999	.	0.000000	0.35436	N	0.003213	D	0.83142	0.5190	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.964	D	0.84618	0.0682	10	0.87932	D	0	.	19.3326	0.94297	0.0:0.0:1.0:0.0	.	922;903	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	903;922	ENSP00000311859:G903V;ENSP00000352785:G922V	ENSP00000311859:G903V	G	+	2	0	DSG4	27247141	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.517000	0.60503	2.655000	0.90218	0.655000	0.94253	GGG		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		6	138	6	138	---	---	---	---	T	28993143	G	T	28993143	3	4	73	1	0	0	0	0	1	0	0	0	4779	1232	43	1	2891	1	DSG4	18	28993143	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	9212480	28993143	49084105	399	3948										
ST8SIA5	29906	broad.mit.edu	37	chr18	44260212	44260212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcacagagctccagcgcCgcagtgaccagaatgaggcc	11	15	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.chr18:44260212C>A	ENST00000315087.7	-	7	1584	c.924G>T	c.(922-924)gcG>gcT	p.A308A	ST8SIA5_ENST00000538168.1_Silent_p.A344A|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	308					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCTCCAGCGCCGCAGTGACCA	0.607																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(922-924)gcG>gcT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							93	95	94					18																	44260212		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260212C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.924G>T	18.37:g.44260212C>A			Somatic				ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A|ST8SIA5_ENST00000538168.1_Silent_p.A344A	p.A308A	NM_013305.4	NP_037437.2	WXS	Illumina GAIIx	Phase_I	O15466	SIA8E_HUMAN			7	1584	-			308					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.924G>T	CCDS11930.1																																																																																				0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		4	100	4	100	---	---	---	---	A	44260212	C	A	44260212	2	1	73	1	0	0	0	0	0	0	0	1	15234	639	23	1		1	ST8SIA5	18	44260212	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	15267069	44260212	33817036	400	3949										
ST8SIA5	29906	broad.mit.edu	37	chr18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagttatattcaaaaggcccCtcataaaattcaaagtacct	5	9	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.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(148-150)gaG>gaT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							114	111	112					18																	44284609		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44284609C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.150G>T	18.37:g.44284609C>A	ENSP00000321343:p.Glu50Asp		Somatic				ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	p.E50D	NM_013305.4	NP_037437.2	WXS	Illumina GAIIx	Phase_I	O15466	SIA8E_HUMAN			2	810	-			50					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.150G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857584	0.17106	.	.	ENSG00000101638	ENST00000315087;ENST00000538168	T;T	0.43294	0.95;1.11	4.48	3.61	0.41365	.	0.292551	0.37012	N	0.002286	T	0.23766	0.0575	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05699	-1.0869	10	0.15952	T	0.53	.	6.6805	0.23117	0.0:0.7146:0.0:0.2854	.	86;50	B7Z1K9;O15466	.;SIA8E_HUMAN	D	50;86	ENSP00000321343:E50D;ENSP00000445492:E86D	ENSP00000321343:E50D	E	-	3	2	ST8SIA5	42538607	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.715000	0.25822	1.024000	0.39682	0.561000	0.74099	GAG		0.512	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		6	128	6	128	---	---	---	---	A	44284609	C	A	44284609	3	1	73	1	0	0	0	0	1	0	0	0	15234	680	24	1	1004	1	ST8SIA5	18	44284609	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	24397	44284609	33792639	401	3950										
CXXC1	30827	broad.mit.edu	37	chr18	47812543	47812543	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcgccctccaccctcatccCggggctcactgctgtcccgc	9	21	2	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.chr18:47812543C>A	ENST00000285106.6	-	4	1022	c.308G>T	c.(307-309)cGg>cTg	p.R103L	CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	103					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)	p.R103L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCCTCATCCCGGGGCTCACT	0.642																																						ENST00000285106.6																			1	Substitution - Missense(1)	p.R103L(1)	lung(1)	autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(307-309)cGg>cTg		CXXC finger protein 1							100	108	105					18																	47812543		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.chr18:47812543C>A	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.308G>T	18.37:g.47812543C>A	ENSP00000285106:p.Arg103Leu		Somatic				CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L	p.R103L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	WXS	Illumina GAIIx	Phase_I	Q9P0U4	CXXC1_HUMAN			4	1022	-			103					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.308G>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054322	0.36277	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23552	1.9;1.91	4.1	4.1	0.47936	.	0.169689	0.42172	D	0.000760	T	0.17408	0.0418	N	0.19112	0.55	0.38003	D	0.934293	P;P;P;P	0.46578	0.835;0.88;0.756;0.642	B;B;B;B	0.41988	0.176;0.086;0.372;0.206	T	0.08310	-1.0728	10	0.35671	T	0.21	-19.5997	12.2138	0.54394	0.0:1.0:0.0:0.0	.	103;103;103;103	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	L	103	ENSP00000285106:R103L;ENSP00000390475:R103L	ENSP00000285106:R103L	R	-	2	0	CXXC1	46066541	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.852000	0.39348	2.033000	0.60031	0.442000	0.29010	CGG		0.642	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		6	166	6	166	---	---	---	---	A	47812543	C	A	47812543	3	1	73	1	0	0	0	0	1	0	0	0	4097	652	23	1	1722	1	CXXC1	18	47812543	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3527934	47812543	30264705	402	3951										
DSEL	92126	broad.mit.edu	37	chr18	65179270	65179270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctcctgaaccaggaagtGaggtaatgacaacatcagga	11	9	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.chr18:65179270G>T	ENST00000310045.7	-	2	4079	c.2606C>A	c.(2605-2607)tCa>tAa	p.S869*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	859					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)				ACCAGGAAGTGAGGTAATGAC	0.428																																						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.(2605-2607)tCa>tAa		dermatan sulfate epimerase-like							204	200	202					18																	65179270		2203	4300	6503	SO:0001587	stop_gained	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179270G>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.2606C>A	18.37:g.65179270G>T	ENSP00000310565:p.Ser869*		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.S869*	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4079	-		Esophageal squamous(42;0.129)	859					Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	c.2606C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	51	18.242901	0.99901	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	4.99	4.99	0.66335	.	0.353194	0.26605	U	0.023443	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3571	18.2753	0.90081	0.0:0.0:1.0:0.0	.	.	.	.	X	869;859	.	ENSP00000310565:S869X	S	-	2	0	DSEL	63330250	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.821000	0.86641	2.314000	0.78098	0.462000	0.41574	TCA		0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		7	356	7	356	---	---	---	---	T	65179270	G	T	65179270	4	4	73	1	0	0	0	0	0	1	0	0	4775	1294	45	3	1066	3	DSEL	18	65179270	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	17366727	65179270	12897978	403	3952										
ZNF236	7776	broad.mit.edu	37	chr18	74637406	74637406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactcctcctctactgaccCaaacgtgtttatcatgaaca	4	14	2	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.chr18:74637406C>A	ENST00000253159.8	+	22	4115	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1306					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)		TCTACTGACCCAAACGTGTTT	0.488																																						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.(3916-3918)cCa>cAa		zinc finger protein 236							87	85	85					18																	74637406		1997	4166	6163	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637406C>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.3917C>A	18.37:g.74637406C>A	ENSP00000253159:p.Pro1306Gln		Somatic				ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	p.P1306Q	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	4115	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1306					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3917C>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723619	0.68959	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.14640	2.49;2.71	4.53	4.53	0.55603	.	0.064498	0.64402	D	0.000007	T	0.20941	0.0504	L	0.34521	1.04	0.35404	D	0.791816	D	0.57899	0.981	P	0.52758	0.708	T	0.19647	-1.0299	10	0.87932	D	0	.	17.6314	0.88109	0.0:1.0:0.0:0.0	.	1306	Q9UL36	ZN236_HUMAN	Q	1306	ENSP00000253159:P1306Q;ENSP00000444524:P1306Q	ENSP00000253159:P1306Q	P	+	2	0	ZNF236	72766394	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	5.605000	0.67634	2.216000	0.71823	0.557000	0.71058	CCA		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			5	105	5	105	---	---	---	---	A	74637406	C	A	74637406	3	1	73	1	0	0	0	0	1	0	0	0	17786	594	21	1	4003	1	ZNF236	18	74637406	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9458136	74637406	3439842	404	3953										
AES	166	broad.mit.edu	37	chr19	3055700	3055700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggacctgggcacaaatccCgttcagccttttgacgatct	9	13	2	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.chr19:3055700C>A	ENST00000327141.4	-	5	615	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Missense_Mutation_p.G31W|AES_ENST00000592330.1_Intron|AES_ENST00000221561.8_Missense_Mutation_p.G154W	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	87	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|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 anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		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)		GCACAAATCCCGTTCAGCCTT	0.652																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(460-462)Ggg>Tgg		amino-terminal enhancer of split							81	76	78					19																	3055700		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055700C>A	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.259G>T	19.37:g.3055700C>A	ENSP00000317537:p.Gly87Trp		Somatic				AES_ENST00000327141.4_Missense_Mutation_p.G87W|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.G31W	p.G154W	NM_198969.1	NP_945320.1	WXS	Illumina GAIIx	Phase_I	Q08117	AES_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	639	-		Hepatocellular(1079;0.137)	87			Gly/Pro-rich (GP domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.460G>T	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003372	0.74932	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.46819	0.86;0.92	4.09	2.96	0.34315	Groucho/TLE, N-terminal Q-rich domain (1);	0.187532	0.45606	U	0.000351	T	0.59088	0.2168	L	0.46157	1.445	0.53688	D	0.99997	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.957	T	0.63125	-0.6707	10	0.87932	D	0	.	11.8484	0.52397	0.0:0.8218:0.1782:0.0	.	154;87	Q14CJ1;Q08117	.;AES_HUMAN	W	154;87	ENSP00000221561:G154W;ENSP00000317537:G87W	ENSP00000221561:G154W	G	-	1	0	AES	3006700	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	5.539000	0.67199	1.835000	0.53391	0.655000	0.94253	GGG		0.652	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		4	79	4	79	---	---	---	---	A	3055700	C	A	3055700	3	1	73	1	0	0	0	0	1	0	0	0	352	652	23	1	346	1	AES	19	3055700	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		3055700	56073283	405	3954										
MYO1F	4542	broad.mit.edu	37	chr19	8595449	8595449	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgctctcgcacctcctccagGaggaaaagctgggcgggggt	15	13	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.chr19:8595449G>T	ENST00000338257.8	-	20	2319	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	684	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						CCTCCTCCAGGAGGAAAAGCT	0.652																																						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.(2050-2052)ctC>ctA		myosin IF							53	57	55					19																	8595449		1948	4129	6077	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595449G>T	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.2052C>A	19.37:g.8595449G>T			Somatic					p.L684L	NM_012335.3	NP_036467.2	WXS	Illumina GAIIx	Phase_I	O00160	MYO1F_HUMAN			20	2319	-			684					Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2052C>A	CCDS42494.1																																																																																				0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	104	6	104	---	---	---	---	T	8595449	G	T	8595449	2	4	73	1	0	0	0	0	0	0	0	1	10073	1161	41	3		3	MYO1F	19	8595449	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5539749	8595449	50533534	406	3955										
CCDC151	115948	broad.mit.edu	37	chr19	11531589	11531589	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgcgcgggtcactacctCgttgtcctcctcctcactct	8	16	3	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.chr19:11531589C>A	ENST00000356392.4	-	13	1789	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*|RGL3_ENST00000393423.3_5'Flank|RGL3_ENST00000380456.3_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1702-1704)Gag>Tag		coiled-coil domain containing 151							114	124	120					19																	11531589		2039	4175	6214	SO:0001587	stop_gained	115948							g.chr19:11531589C>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1702G>T	19.37:g.11531589C>A	ENSP00000348757:p.Glu568*		Somatic				CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*	p.E568*	NM_145045.4	NP_659482.3	WXS	Illumina GAIIx	Phase_I	A5D8V7	CC151_HUMAN			13	1789	-			568					B4DXT0|Q96CG5	Nonsense_Mutation	SNP	ENST00000356392.4	37	c.1702G>T	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793129	0.70452	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	.	.	.	4.25	-6.84	0.01687	.	0.537430	0.17133	N	0.185760	.	.	.	.	.	.	0.47905	D	0.999549	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.6621	2.1235	0.03731	0.1068:0.3748:0.2138:0.3046	.	.	.	.	X	514;568;547	.	ENSP00000348757:E568X	E	-	1	0	CCDC151	11392589	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.075000	0.14686	-2.307000	0.00653	-2.649000	0.00149	GAG		0.577	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		4	96	4	96	---	---	---	---	A	11531589	C	A	11531589	4	1	73	1	0	0	0	0	0	1	0	0	2786	893	31	3	89	3	CCDC151	19	11531589	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2936140	11531589	47597394	407	3956										
SYDE1	85360	broad.mit.edu	37	chr19	15224692	15224692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcgatgcgcccttcaaccCgcacctgaatctcaaagact	6	16	2	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.chr19:15224692C>A	ENST00000342784.2	+	8	2157	c.2126C>A	c.(2125-2127)cCg>cAg	p.P709Q	SYDE1_ENST00000600252.1_Missense_Mutation_p.P366Q|SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	709					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						CCCTTCAACCCGCACCTGAAT	0.607																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1096-1098)cCg>cAg		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							141	151	147					19																	15224692		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224692C>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.2126C>A	19.37:g.15224692C>A	ENSP00000341489:p.Pro709Gln		Somatic				SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.P709Q	p.P366Q			WXS	Illumina GAIIx	Phase_I	Q6ZW31	SYDE1_HUMAN			5	2739	+			709					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1097C>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400060	0.62177	.	.	ENSG00000105137	ENST00000342784	T	0.55930	0.49	5.43	5.43	0.79202	.	0.400908	0.26631	N	0.023301	T	0.45736	0.1357	N	0.16368	0.405	0.27353	N	0.956193	B;P;B	0.51537	0.009;0.946;0.003	B;P;B	0.52823	0.021;0.71;0.013	T	0.31888	-0.9927	10	0.10636	T	0.68	.	14.7142	0.69254	0.0:1.0:0.0:0.0	.	642;642;709	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	Q	709	ENSP00000341489:P709Q	ENSP00000341489:P709Q	P	+	2	0	SYDE1	15085692	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.300000	0.65721	2.547000	0.85894	0.491000	0.48974	CCG		0.607	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		7	201	7	201	---	---	---	---	A	15224692	C	A	15224692	3	1	73	1	0	0	0	0	1	0	0	0	15432	652	23	1	2156	1	SYDE1	19	15224692	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3693103	15224692	43904291	408	3957										
CYP4F12	66002	broad.mit.edu	37	chr19	15794491	15794491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagcggcgtcgcaccctccCcactcagggtattgatgatt	12	13	1	2	rs567584411		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.chr19:15794491C>A	ENST00000550308.1	+	7	1216	c.836C>A	c.(835-837)cCc>cAc	p.P279H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	279					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)	CGCACCCTCCCCACTCAGGGT	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.(835-837)cCc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 12							106	105	105					19																	15794491		2201	4298	6499	SO:0001583	missense	66002							g.chr19:15794491C>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.836C>A	19.37:g.15794491C>A	ENSP00000448998:p.Pro279His		Somatic				CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	p.P279H	NM_023944.3	NP_076433	WXS	Illumina GAIIx	Phase_I					7	1216	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.836C>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	1.751	-0.489236	0.04352	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68479	-0.33;-0.33	2.47	0.156	0.14910	.	0.986178	0.08244	U	0.975721	T	0.53012	0.1770	L	0.39245	1.2	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.45600	-0.9250	10	0.51188	T	0.08	.	3.2369	0.06767	0.4572:0.3992:0.0:0.1435	.	279	Q9HCS2	CP4FC_HUMAN	H	279	ENSP00000448998:P279H;ENSP00000321821:P279H	ENSP00000321821:P279H	P	+	2	0	CYP4F12	15655491	0.000000	0.05858	0.014000	0.15608	0.341000	0.28922	-0.600000	0.05693	0.107000	0.17824	0.491000	0.48974	CCC		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			7	141	7	141	---	---	---	---	A	15794491	C	A	15794491	3	1	73	1	0	0	0	0	1	0	0	0	4187	623	22	1	858	1	CYP4F12	19	15794491	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	569799	15794491	43334492	409	3958										
NCAN	1463	broad.mit.edu	37	chr19	19339217	19339217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagggaaaccggctgttcctCctgggacaccgactgcagcc	12	14	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.chr19:19339217C>A	ENST00000252575.6	+	8	2887	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	930					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)	GGCTGTTCCTCCTGGGACACC	0.637																																						ENST00000252575.6																			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.(2788-2790)Cct>Act		neurocan							87	89	88					19																	19339217		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339217C>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.2788C>A	19.37:g.19339217C>A	ENSP00000252575:p.Pro930Thr		Somatic				NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	p.P930T	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2887	+								Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2788C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	6.924	0.540182	0.13250	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85955	-1.87;-2.05	2.48	1.43	0.22495	.	0.219310	0.23468	N	0.047844	T	0.71213	0.3313	L	0.32530	0.975	0.09310	N	1	B;P	0.37061	0.437;0.58	B;B	0.34536	0.115;0.185	T	0.58674	-0.7595	10	0.24483	T	0.36	.	5.4585	0.16604	0.0:0.8384:0.0:0.1616	.	944;930	Q4LE67;O14594	.;NCAN_HUMAN	T	944;930;381	ENSP00000252575:P930T;ENSP00000442202:P381T	ENSP00000252575:P930T	P	+	1	0	NCAN	19200217	0.001000	0.12720	0.121000	0.21740	0.041000	0.13682	0.513000	0.22770	0.652000	0.30806	-0.333000	0.08304	CCT		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		7	146	7	146	---	---	---	---	A	19339217	C	A	19339217	3	1	73	1	0	0	0	0	1	0	0	0	10204	855	30	3	2814	3	NCAN	19	19339217	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3544726	19339217	39789766	410	3959										
ZNF536	9745	broad.mit.edu	37	chr19	31039790	31039790	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcagctcaaggagactctGggagagcagaagagcggtgc	17	8	3	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.chr19:31039790G>T	ENST00000355537.3	+	4	3411	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1088					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)					AGGAGACTCTGGGAGAGCAGA	0.517																																						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.(3262-3264)ctG>ctT		zinc finger protein 536							70	79	76					19																	31039790		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039790G>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.3264G>T	19.37:g.31039790G>T			Somatic					p.L1088L	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			4	3411	+	Esophageal squamous(110;0.0834)		1088					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3264G>T	CCDS32984.1																																																																																				0.517	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	67	5	67	---	---	---	---	T	31039790	G	T	31039790	2	4	73	1	0	0	0	0	0	0	0	1	17971	1335	47	1		1	ZNF536	19	31039790	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	11700573	31039790	28089193	411	3960										
TSHZ3	57616	broad.mit.edu	37	chr19	31769360	31769360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtgaaggtggtggctgccaGgggcacggactggaccttct	17	10	1	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.chr19:31769360G>T	ENST00000240587.4	-	2	1666	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	447					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)					GTGGCTGCCAGGGGCACGGAC	0.557																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1339-1341)Ctg>Atg		teashirt zinc finger homeobox 3							105	105	105					19																	31769360		2203	4300	6503	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.chr19:31769360G>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.1339C>A	19.37:g.31769360G>T	ENSP00000240587:p.Leu447Met		Somatic					p.L447M	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1666	-	Esophageal squamous(110;0.226)		447					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1339C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894937	0.52121	.	.	ENSG00000121297	ENST00000240587	T	0.14144	2.53	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	M	0.64404	1.975	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.05699	-1.0869	10	0.59425	D	0.04	-19.4073	19.0877	0.93212	0.0:0.0:1.0:0.0	.	447	Q63HK5	TSH3_HUMAN	M	447	ENSP00000240587:L447M	ENSP00000240587:L447M	L	-	1	2	TSHZ3	36461200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	2.489000	0.83994	0.655000	0.94253	CTG		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	123	6	123	---	---	---	---	T	31769360	G	T	31769360	3	4	73	1	0	0	0	0	1	0	0	0	16622	991	35	1	1910	1	TSHZ3	19	31769360	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	729570	31769360	27359623	412	3961										
GPI	2821	broad.mit.edu	37	chr19	34857283	34857283	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaaccatgggcatatcctGgtggattactccaagaacct	8	12	0	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.chr19:34857283G>T	ENST00000356487.5	+	2	397	c.156G>T	c.(154-156)ctG>ctT	p.L52L	GPI_ENST00000415930.3_Silent_p.L91L|GPI_ENST00000586425.1_Silent_p.L52L	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	52					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)					GGCATATCCTGGTGGATTACT	0.552																																						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.(271-273)ctG>ctT		glucose-6-phosphate isomerase							261	197	218					19																	34857283		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.chr19:34857283G>T	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.156G>T	19.37:g.34857283G>T			Somatic				GPI_ENST00000356487.5_Silent_p.L52L|GPI_ENST00000586425.1_Silent_p.L52L	p.L91L	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			3	443	+	Esophageal squamous(110;0.162)		52					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.273G>T	CCDS12437.1																																																																																				0.552	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			7	160	7	160	---	---	---	---	T	34857283	G	T	34857283	2	4	73	1	0	0	0	0	0	0	0	1	6611	1335	47	1		1	GPI	19	34857283	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3087923	34857283	24271700	413	3962										
GAPDHS	26330	broad.mit.edu	37	chr19	36027833	36027833	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaccactgcctcctcacccCgctactcctcctcctaagat	3	22	1	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.chr19:36027833C>A	ENST00000222286.4	+	2	302	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	62	Testis-specific N-terminal extension.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCTCACCCCGCTACTCCTC	0.592																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(184-186)ccC>ccA		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						241	211	222					19																	36027833		2203	4300	6503	SO:0001819	synonymous_variant	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36027833C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.186C>A	19.37:g.36027833C>A			Somatic					p.P62P	NM_014364.4	NP_055179.1	WXS	Illumina GAIIx	Phase_I	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	302	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		62					B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	ENST00000222286.4	37	c.186C>A	CCDS12465.1																																																																																				0.592	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		5	99	5	99	---	---	---	---	A	36027833	C	A	36027833	2	1	73	1	0	0	0	0	0	0	0	1	6237	639	23	1		1	GAPDHS	19	36027833	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1170550	36027833	23101150	414	3963										
CLIP3	25999	broad.mit.edu	37	chr19	36508789	36508789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgtagaagcgcacgatccCctgcttctggcccgcgacaa	10	17	1	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.chr19:36508789C>A	ENST00000360535.4	-	10	1515	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	430					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)			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)			CGCACGATCCCCTGCTTCTGG	0.632																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1288-1290)Ggg>Tgg		CAP-GLY domain containing linker protein 3							100	93	95					19																	36508789		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.chr19:36508789C>A	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.1288G>T	19.37:g.36508789C>A	ENSP00000353732:p.Gly430Trp		Somatic				CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	p.G430W	NM_015526.2	NP_056341.1	WXS	Illumina GAIIx	Phase_I	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1515	-	Esophageal squamous(110;0.162)		430					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1288G>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484623	0.84854	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.90900	-2.75	4.75	4.75	0.60458	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98768	1.0727	10	0.87932	D	0	-26.8268	15.2748	0.73734	0.0:1.0:0.0:0.0	.	430	Q96DZ5	CLIP3_HUMAN	W	430;312;406	ENSP00000353732:G430W	ENSP00000353732:G430W	G	-	1	0	CLIP3	41200629	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.090000	0.76916	2.473000	0.83533	0.561000	0.74099	GGG		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		6	106	6	106	---	---	---	---	A	36508789	C	A	36508789	3	1	73	1	0	0	0	0	1	0	0	0	3534	623	22	1	375	1	CLIP3	19	36508789	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	480956	36508789	22620194	415	3964										
WDR62	284403	broad.mit.edu	37	chr19	36594583	36594583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgagggccaagagcctgccCtgcgttcctggggcaaccac	14	14	0	2	rs397704725		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.chr19:36594583C>A	ENST00000270301.7	+	30	3838	c.3838C>A	c.(3838-3840)Ctg>Atg	p.L1280M	WDR62_ENST00000401500.2_Missense_Mutation_p.L1285M			O43379	WDR62_HUMAN	WD repeat domain 62	1280					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)			AGAGCCTGCCCTGCGTTCCTG	0.662																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3853-3855)Ctg>Atg		WD repeat domain 62							83	64	71					19																	36594583		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36594583C>A	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.3838C>A	19.37:g.36594583C>A	ENSP00000270301:p.Leu1280Met		Somatic				WDR62_ENST00000270301.7_Missense_Mutation_p.L1280M	p.L1285M	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	WXS	Illumina GAIIx	Phase_I	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	3888	+	Esophageal squamous(110;0.162)		1280					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3853C>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592804	0.46214	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.54479	0.66;0.57	4.88	1.59	0.23543	.	1.938780	0.02356	N	0.076364	T	0.57858	0.2082	L	0.32530	0.975	0.09310	N	1	D;D	0.65815	0.995;0.991	P;P	0.61800	0.894;0.786	T	0.37526	-0.9702	10	0.62326	D	0.03	-1.1745	3.557	0.07867	0.1725:0.569:0.1665:0.092	.	1285;1280	O43379-4;O43379	.;WDR62_HUMAN	M	1285;1280	ENSP00000384792:L1285M;ENSP00000270301:L1280M	ENSP00000270301:L1280M	L	+	1	2	WDR62	41286423	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.544000	0.23253	0.272000	0.22027	-1.108000	0.02087	CTG		0.662	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		6	100	6	100	---	---	---	---	A	36594583	C	A	36594583	3	1	73	1	0	0	0	0	1	0	0	0	17310	680	24	1	3971	1	WDR62	19	36594583	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	85794	36594583	22534400	416	3965										
ZNF585A	199704	broad.mit.edu	37	chr19	37646805	37646805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctctcaccctgcagtgccCatggttcctttccttgctcc	7	18	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.chr19:37646805C>A	ENST00000356958.4	-	4	512	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCAGTGCCCATGGTTCCTT	0.512																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(253-255)tGg>tTg		zinc finger protein 585A							171	136	148					19																	37646805		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37646805C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.254G>T	19.37:g.37646805C>A	ENSP00000349440:p.Trp85Leu		Somatic				ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L	p.W85L			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	512	-			85			KRAB.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.254G>T		.	.	.	.	.	.	.	.	.	.	C	13.12	2.142579	0.37825	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.10573	2.88;2.86;2.86;3.0	3.52	2.47	0.30058	Krueppel-associated box (2);	1.426200	0.05005	U	0.469823	T	0.14013	0.0339	L	0.61218	1.895	0.25115	N	0.990688	B	0.25105	0.118	B	0.19391	0.025	T	0.31110	-0.9955	10	0.48119	T	0.1	.	6.5522	0.22440	0.0:0.8642:0.0:0.1358	.	85	Q6P3V2	Z585A_HUMAN	L	85;30;30;30	ENSP00000349440:W85L;ENSP00000292841:W30L;ENSP00000375998:W30L;ENSP00000347724:W30L	ENSP00000292841:W30L	W	-	2	0	ZNF585A	42338645	0.090000	0.21635	0.998000	0.56505	0.743000	0.42351	1.306000	0.33505	0.671000	0.31185	0.655000	0.94253	TGG		0.512	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		5	87	5	87	---	---	---	---	A	37646805	C	A	37646805	3	1	73	1	0	0	0	0	1	0	0	0	18014	595	21	1	2063	1	ZNF585A	19	37646805	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1052222	37646805	21482178	417	3966										
ZNF585B	92285	broad.mit.edu	37	chr19	37677025	37677025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggttggtgaatgccttccCacatttattgcatacatagg	9	10	0	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.chr19:37677025C>A	ENST00000532828.2	-	5	1665	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	472					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)			AATGCCTTCCCACATTTATTG	0.393																																					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.(1414-1416)Ggg>Tgg		zinc finger protein 585B							116	116	116					19																	37677025		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677025C>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.1414G>T	19.37:g.37677025C>A	ENSP00000433773:p.Gly472Trp		Somatic				ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|CTC-454I21.3_ENST00000585860.2_Intron	p.G472W	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1665	-			472					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1414G>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777042	0.31411	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.22336	1.96;3.16;3.16	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001775	T	0.50086	0.1595	M	0.92026	3.265	0.40083	D	0.976152	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.60037	-0.7341	10	0.72032	D	0.01	.	9.8137	0.40840	0.0:1.0:0.0:0.0	.	417;472	E9PQH3;Q52M93	.;Z585B_HUMAN	W	417;472;60	ENSP00000436774:G417W;ENSP00000433773:G472W;ENSP00000442139:G60W	ENSP00000442139:G60W	G	-	1	0	ZNF585B	42368865	0.814000	0.29104	0.998000	0.56505	0.475000	0.33008	1.016000	0.29976	1.288000	0.44600	0.298000	0.19748	GGG		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		7	135	7	135	---	---	---	---	A	37677025	C	A	37677025	3	1	73	1	0	0	0	0	1	0	0	0	18015	594	21	1	899	1	ZNF585B	19	37677025	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	30220	37677025	21451958	418	3967										
ZNF607	84775	broad.mit.edu	37	chr19	38190150	38190150	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttttatgacccacaaggtgGgaaaactgacgaaaggcctt	10	9	0	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.chr19:38190150G>T	ENST00000355202.4	-	5	1477	c.882C>A	c.(880-882)tcC>tcA	p.S294S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	294					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(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACAAGGTGGGAAAACTGAC	0.428																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(880-882)tcC>tcA		zinc finger protein 607							70	71	71					19																	38190150		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190150G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.882C>A	19.37:g.38190150G>T			Somatic				CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	p.S294S	NM_032689.4	NP_116078.4	WXS	Illumina GAIIx	Phase_I	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1477	-			294					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.882C>A	CCDS33006.1																																																																																				0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		6	91	6	91	---	---	---	---	T	38190150	G	T	38190150	2	4	73	1	0	0	0	0	0	0	0	1	18030	1219	43	1		1	ZNF607	19	38190150	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	513125	38190150	20938833	419	3968										
SNRPA	6626	broad.mit.edu	37	chr19	41257332	41257332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatggcagttcccgagaccCgccctaaccacactatttat	6	16	0	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.chr19:41257332C>A	ENST00000243563.3	+	1	569	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	SNRPA_ENST00000599570.1_3'UTR|C19orf54_ENST00000470681.1_5'Flank|C19orf54_ENST00000339153.3_5'Flank|C19orf54_ENST00000378313.2_5'Flank|C19orf54_ENST00000598729.1_5'Flank|C19orf54_ENST00000598485.2_5'Flank	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	7					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGAGACCCGCCCTAACCA	0.493																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(19-21)Cgc>Agc		small nuclear ribonucleoprotein polypeptide A							168	162	164					19																	41257332		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41257332C>A	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.19C>A	19.37:g.41257332C>A	ENSP00000243563:p.Arg7Ser		Somatic				SNRPA_ENST00000599570.1_3'UTR	p.R7S	NM_004596.4	NP_004587.1	WXS	Illumina GAIIx	Phase_I	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	569	+			7						Missense_Mutation	SNP	ENST00000243563.3	37	c.19C>A	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350836	0.61183	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.05925	3.37	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	L	0.47016	1.485	0.54753	D	0.999987	B	0.22146	0.065	B	0.29862	0.108	T	0.15407	-1.0438	10	0.34782	T	0.22	-20.5743	14.0852	0.64951	0.1507:0.8493:0.0:0.0	.	7	P09012	SNRPA_HUMAN	S	7	ENSP00000243563:R7S	ENSP00000243563:R7S	R	+	1	0	SNRPA	45949172	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	3.292000	0.51772	2.837000	0.97791	0.655000	0.94253	CGC		0.493	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		6	208	6	208	---	---	---	---	A	41257332	C	A	41257332	3	1	73	1	0	0	0	0	1	0	0	0	14859	652	23	1	21	1	SNRPA	19	41257332	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3067182	41257332	17871651	420	3969										
DMRTC2	63946	broad.mit.edu	37	chr19	42353218	42353218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctttgaccctggcacctccCtccagctgcccactcatggg	9	18	1	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.chr19:42353218C>A	ENST00000269945.3	+	6	700	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	217	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)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGCACCTCCCTCCAGCTGCC	0.557																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(649-651)Ctc>Atc		DMRT-like family C2							127	132	130					19																	42353218		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.chr19:42353218C>A	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.649C>A	19.37:g.42353218C>A	ENSP00000269945:p.Leu217Ile		Somatic				DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	p.L217I	NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			6	700	+			217			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.649C>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754270	0.15778	.	.	ENSG00000142025	ENST00000269945	T	0.47528	0.84	5.1	2.78	0.32641	.	0.415201	0.18860	N	0.129143	T	0.28466	0.0704	N	0.14661	0.345	0.25607	N	0.986537	B;B	0.17038	0.02;0.013	B;B	0.16289	0.015;0.008	T	0.16158	-1.0412	10	0.34782	T	0.22	-13.1031	10.0398	0.42151	0.3665:0.6335:0.0:0.0	.	217;217	B4DX56;Q8IXT2	.;DMRTD_HUMAN	I	217	ENSP00000269945:L217I	ENSP00000269945:L217I	L	+	1	0	DMRTC2	47045058	0.910000	0.30920	0.991000	0.47740	0.386000	0.30323	0.690000	0.25451	1.277000	0.44412	0.462000	0.41574	CTC		0.557	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		7	163	7	163	---	---	---	---	A	42353218	C	A	42353218	3	1	73	1	0	0	0	0	1	0	0	0	4591	681	24	1	667	1	DMRTC2	19	42353218	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1095886	42353218	16775765	421	3970										
PSG1	5669	broad.mit.edu	37	chr19	43382176	43382176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgacattctggatcagcaGggatgcattggaatatgctg	14	6	2	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.chr19:43382176G>T	ENST00000436291.2	-	2	435	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000244296.2_Missense_Mutation_p.L107M	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	107	Ig-like V-type.				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)				TGGATCAGCAGGGATGCATTG	0.448																																						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.(319-321)Ctg>Atg		pregnancy specific beta-1-glycoprotein 1							321	299	307					19																	43382176		2202	4296	6498	SO:0001583	missense	5669							g.chr19:43382176G>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.319C>A	19.37:g.43382176G>T	ENSP00000413041:p.Leu107Met		Somatic				PSG1_ENST00000436291.2_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000601073.1_5'UTR	p.L107M	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					2	456	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.319C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	11.30	1.599173	0.28534	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.64	-2.6	0.06190	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30572	0.0769	M	0.94101	3.495	0.09310	N	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.991;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.997;0.999;1.0;1.0	T	0.06499	-1.0823	9	0.87932	D	0	.	5.225	0.15389	0.5067:0.0:0.4933:0.0	.	107;107;107;107;107;107;107;107;107	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	M	107	ENSP00000413041:L107M;ENSP00000385386:L107M;ENSP00000308970:L107M;ENSP00000244296:L107M	ENSP00000244296:L107M	L	-	1	2	PSG1	48074016	0.956000	0.32656	0.069000	0.20011	0.103000	0.19146	0.553000	0.23391	-0.518000	0.06452	0.184000	0.17185	CTG		0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			10	478	10	478	---	---	---	---	T	43382176	G	T	43382176	3	4	73	1	0	0	0	0	1	0	0	0	12653	991	35	1	1013	1	PSG1	19	43382176	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1028958	43382176	15746807	422	3971										
XRCC1	7515	broad.mit.edu	37	chr19	44050812	44050812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctgctttggtctcttcaGgggttgggggcttctggggt	18	7	3	0	rs561549900		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.chr19:44050812G>T	ENST00000262887.5	-	12	1908	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	454					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTCAGGGGTTGGGGG	0.612								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)cCt>cAt	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							119	130	126					19																	44050812		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44050812G>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1361C>A	19.37:g.44050812G>T	ENSP00000262887:p.Pro454His		Somatic				XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H	p.P454H			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			12	1908	-		Prostate(69;0.0153)	454					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1361C>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030619	0.35797	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.03004	4.09;4.08	4.87	4.87	0.63330	.	0.532611	0.20625	N	0.088681	T	0.15219	0.0367	M	0.65975	2.015	0.38903	D	0.95737	D;D	0.89917	1.0;0.994	D;P	0.73380	0.98;0.783	T	0.00463	-1.1724	10	0.42905	T	0.14	-14.3796	14.2381	0.65941	0.0:0.0:1.0:0.0	.	423;454	F5H8D7;P18887	.;XRCC1_HUMAN	H	468;454;423	ENSP00000262887:P454H;ENSP00000443671:P423H	ENSP00000262887:P454H	P	-	2	0	XRCC1	48742652	0.977000	0.34250	0.296000	0.24974	0.010000	0.07245	2.735000	0.47377	2.615000	0.88500	0.655000	0.94253	CCT		0.612	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		7	199	7	199	---	---	---	---	T	44050812	G	T	44050812	3	4	73	1	0	0	0	0	1	0	0	0	17449	1000	35	1	564	1	XRCC1	19	44050812	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	668636	44050812	15078171	423	3972										
CEACAM20	125931	broad.mit.edu	37	chr19	45029262	45029262	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcagctggaggactccatAcggtacaaagcgaggctaca	12	11	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.chr19:45029262A>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			Somatic								WXS	Illumina GAIIx	Phase_I	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	35	85	---	---	---	---	G	45029262	A	G	45029262	1	3	73	0	1	0	0	0	0	0	0	0	3191	391	14	2		2	CEACAM20	19	45029262	RNA	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	978450	45029262	14099721	424	3973										
BCL3	602	broad.mit.edu	37	chr19	45262794	45262794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttccttccccatctccaccCgccttcctgccctttgctgg	5	21	1	0	rs200468364		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.chr19:45262794C>A	ENST00000164227.5	+	9	1531	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				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)	p.P421P(2)		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)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		2	Substitution - coding silent(2)	p.P421P(2)	large_intestine(1)|prostate(1)	kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1285-1287)ccC>ccA		B-cell CLL/lymphoma 3							97	108	104					19																	45262794		2203	4300	6503	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.chr19:45262794C>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.1287C>A	19.37:g.45262794C>A			Somatic					p.P429P	NM_005178.4	NP_005169.2	WXS	Illumina GAIIx	Phase_I	P20749	BCL3_HUMAN			9	1531	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	429			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1287C>A	CCDS12642.2																																																																																				0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	192	5	192	---	---	---	---	A	45262794	C	A	45262794	2	1	73	1	0	0	0	0	0	0	0	1	1375	639	23	1		1	BCL3	19	45262794	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	233532	45262794	13866189	425	3974										
PVRL2	5819	broad.mit.edu	37	chr19	45389443	45389443	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagcccactcaagaccccCtactttgatgctggcgcctc	7	18	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.chr19:45389443C>A	ENST00000252483.5	+	8	1314	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	438					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)		TCAAGACCCCCTACTTTGATG	0.647																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)ccC>ccA		poliovirus receptor-related 2 (herpesvirus entry mediator B)							43	44	43					19																	45389443		1874	4104	5978	SO:0001819	synonymous_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.chr19:45389443C>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.1314C>A	19.37:g.45389443C>A			Somatic				CTB-129P6.4_ENST00000585408.1_RNA	p.P438P	NM_001042724.1	NP_001036189.1	WXS	Illumina GAIIx	Phase_I	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	8	1314	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	438					A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.1314C>A	CCDS42576.1																																																																																				0.647	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		5	68	5	68	---	---	---	---	A	45389443	C	A	45389443	2	1	73	1	0	0	0	0	0	0	0	1	12840	668	24	1		1	PVRL2	19	45389443	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	126649	45389443	13739540	426	3975										
HSD17B14	51171	broad.mit.edu	37	chr19	49339660	49339660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcccggcatagcgcgttccCgtagccatcccgtgtacgtc	10	16	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.chr19:49339660C>A	ENST00000263278.4	-	1	275	c.9G>T	c.(7-9)acG>acT	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		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;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263278.4																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(7-9)acG>acT		hydroxysteroid (17-beta) dehydrogenase 14							67	55	59					19																	49339660		2203	4300	6503	SO:0001819	synonymous_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49339660C>A	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.9G>T	19.37:g.49339660C>A			Somatic	OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	HSD17B14_ENST00000599157.1_Silent_p.T3T	p.T3T	NM_016246.2	NP_057330.2	WXS	Illumina GAIIx	Phase_I	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	1	275	-		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)	3					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.9G>T	CCDS12736.1																																																																																				0.647	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		4	68	4	68	---	---	---	---	A	49339660	C	A	49339660	2	1	73	1	0	0	0	0	0	0	0	1	7383	639	23	1		1	HSD17B14	19	49339660	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3950217	49339660	9789323	427	3976										
ZNF473	25888	broad.mit.edu	37	chr19	50549573	50549573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtataaatggggtgagcaaGggaaagccatcagcagtgcc	14	7	1	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.chr19:50549573G>T	ENST00000595661.1	+	6	2368	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	625					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGGTGAGCAAGGGAAAGCCAT	0.478																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1873-1875)Ggg>Tgg		zinc finger protein 473							86	79	82					19																	50549573		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549573G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1873G>T	19.37:g.50549573G>T	ENSP00000472808:p.Gly625Trp		Somatic				CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W|ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W	p.G625W			WXS	Illumina GAIIx	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2368	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	625					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1873G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416658	0.25552	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09255	3.0;3.0;3.01	4.24	2.04	0.26737	.	0.325448	0.22461	N	0.059745	T	0.33847	0.0877	M	0.90650	3.135	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.07424	-1.0773	10	0.87932	D	0	-3.1035	7.6158	0.28156	0.0953:0.1676:0.737:0.0	.	625	Q8WTR7	ZN473_HUMAN	W	625;625;613	ENSP00000270617:G625W;ENSP00000375697:G625W;ENSP00000388961:G613W	ENSP00000270617:G625W	G	+	1	0	ZNF473	55241385	0.047000	0.20315	0.003000	0.11579	0.090000	0.18270	1.568000	0.36418	0.700000	0.31782	0.609000	0.83330	GGG		0.478	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		5	69	5	69	---	---	---	---	T	50549573	G	T	50549573	3	4	73	1	0	0	0	0	1	0	0	0	17928	1000	35	1	1887	1	ZNF473	19	50549573	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1209913	50549573	8579410	428	3977										
ZNF578	147660	broad.mit.edu	37	chr19	53008033	53008033	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacaggaacctggaggctgtGggtgaggaaaatgtccctgc	15	8	0	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.chr19:53008033G>T	ENST00000421239.2	+	5	433	c.189G>T	c.(187-189)gtG>gtT	p.V63V		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	63	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)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGGCTGTGGGTGAGGAAA	0.483																																						ENST00000421239.2																			0											c.(187-189)gtG>gtT		zinc finger protein 578							79	87	85					19																	53008033		2203	4298	6501	SO:0001630	splice_region_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53008033G>T	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.190+1G>T	19.37:g.53008033G>T			Somatic					p.V63V	NM_001099694.1	NP_001093164.1	WXS	Illumina GAIIx	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	433	+			0					B4DR51|I3L1Y6	Splice_Site	SNP	ENST00000421239.2	37	c.189G>T	CCDS54310.1																																																																																				0.483	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	Silent	7	185	7	185	---	---	---	---	T	53008033	G	T	53008033	5	4	73	1	0	0	0	0	0	0	1	0	18007	1362	47	1	195	1	ZNF578	19	53008033	Splice_Site	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2458460	53008033	6120950	429	3978										
ZNF468	90333	broad.mit.edu	37	chr19	53345186	53345186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcatgttggcctgtactacCagccaactctttgatttctg	7	11	3	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.chr19:53345186C>A	ENST00000595646.1	-	4	481	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	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)			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)		CCTGTACTACCAGCCAACTCT	0.428																																						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.(361-363)Ggt>Tgt		zinc finger protein 468							216	196	203					19																	53345186		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345186C>A	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.361G>T	19.37:g.53345186C>A	ENSP00000470381:p.Gly121Cys		Somatic				ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR	p.G121C			WXS	Illumina GAIIx	Phase_I	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	481	-			121					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.361G>T	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	c	9.338	1.062314	0.19987	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.07327	3.2;3.2	1.2	-1.32	0.09201	.	.	.	.	.	T	0.14830	0.0358	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.14839	-1.0458	9	0.48119	T	0.1	.	1.9701	0.03404	0.261:0.3375:0.0:0.4015	.	121	Q5VIY5	ZN468_HUMAN	C	121;68;68	ENSP00000379690:G68C;ENSP00000445669:G68C	ENSP00000243639:G121C	G	-	1	0	ZNF468	58036998	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.167000	0.01271	-0.355000	0.08199	0.174000	0.16983	GGT		0.428	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		6	225	6	225	---	---	---	---	A	53345186	C	A	53345186	3	1	73	1	0	0	0	0	1	0	0	0	17925	594	21	1	1211	1	ZNF468	19	53345186	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	337153	53345186	5783797	430	3979										
LILRA6	79168	broad.mit.edu	37	chr19	54744952	54744952	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagggtcaggctctgcccaGgggccaggacagggccctgc	18	13	2	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.chr19:54744952G>T	ENST00000396365.2	-	5	749	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LILRA6_ENST00000440558.2_Missense_Mutation_p.P237H|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	237	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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;0.105)		GCTCTGCCCAGGGGCCAGGAC	0.637																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(709-711)cCt>cAt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							40	49	46					19																	54744952		2203	4297	6500	SO:0001583	missense	79168							g.chr19:54744952G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.710C>A	19.37:g.54744952G>T	ENSP00000379651:p.Pro237His		Somatic				LILRA6_ENST00000396365.2_Missense_Mutation_p.P237H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H	p.P237H			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	5	758	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.710C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911575	0.17833	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	2.39	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.319940	0.05560	N	0.568995	T	0.29524	0.0736	M	0.82823	2.61	0.22968	N	0.998497	B;P;P;P	0.36438	0.115;0.536;0.553;0.473	B;P;B;B	0.44897	0.304;0.463;0.362;0.4	T	0.33189	-0.9878	10	0.66056	D	0.02	.	8.4083	0.32627	0.0:0.0:1.0:0.0	.	237;237;237;237	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	H	237	ENSP00000390120:P237H;ENSP00000411227:P237H;ENSP00000379651:P237H;ENSP00000245621:P237H	ENSP00000245621:P237H	P	-	2	0	LILRA6	59436764	0.215000	0.23574	0.045000	0.18777	0.007000	0.05969	1.478000	0.35442	1.665000	0.50811	0.184000	0.17185	CCT		0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		6	79	6	79	---	---	---	---	T	54744952	G	T	54744952	3	4	73	1	0	0	0	0	1	0	0	0	8789	1000	35	1	751	1	LILRA6	19	54744952	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1399766	54744952	4384031	431	3980										
C19orf51	352909	broad.mit.edu	37	chr19	55677910	55677910	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctttatcctccaaatatccCgggacgccccttcctctctg	5	18	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.chr19:55677910C>A	ENST00000524407.2	-	0	10				snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Missense_Mutation_p.R36L|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCAAATATCCCGGGACGCCCC	0.622											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527223.2																			0											c.(106-108)cGg>cTg		dynein, axonemal, assembly factor 3							138	150	146					19																	55677910		1938	4129	6067	SO:0001623	5_prime_UTR_variant	352909							g.chr19:55677910C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.-24G>T	19.37:g.55677910C>A			Somatic	OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L|DNAAF3_ENST00000524407.2_5'UTR	p.R36L	NM_001256714.1	NP_001243643	WXS	Illumina GAIIx	Phase_I	Q8N9W5	CS051_HUMAN			1	108	-			0					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.107G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015602	0.19355	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.20200	2.09	3.82	-2.68	0.06041	.	3.171830	0.01484	N	0.016813	T	0.11024	0.0269	N	0.08118	0	0.09310	N	0.999993	B	0.25850	0.136	B	0.23852	0.049	T	0.25117	-1.0141	10	0.44086	T	0.13	0.0343	5.9785	0.19393	0.0:0.3332:0.4663:0.2006	.	36	E9PAX5	.	L	36	ENSP00000375600:R36L	ENSP00000301249:R36L	R	-	2	0	C19orf51	60369722	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.362000	0.07602	-0.324000	0.08589	-0.889000	0.02933	CGG		0.622	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		8	201	8	201	---	---	---	---	A	55677910	C	A	55677910	1	1	73	0	1	0	0	0	0	0	0	0	1933	652	23	1		1	C19orf51	19	55677910	5'UTR	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	932958	55677910	3451073	432	3981										
ZNF132	7691	broad.mit.edu	37	chr19	58948496	58948496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatcaaggagctcccactcCtcttgggagaagtatacagc	10	12	2	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.chr19:58948496C>A	ENST00000254166.3	-	2	550	c.150G>T	c.(148-150)gaG>gaT	p.E50D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTCCCACTCCTCTTGGGAGA	0.512																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(148-150)gaG>gaT		zinc finger protein 132							118	91	100					19																	58948496		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58948496C>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.150G>T	19.37:g.58948496C>A	ENSP00000254166:p.Glu50Asp		Somatic					p.E50D	NM_003433.3	NP_003424.3	WXS	Illumina GAIIx	Phase_I	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	2	550	-		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)	50			KRAB.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.150G>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005413	0.54254	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.03413	3.94	3.41	-0.224	0.13115	Krueppel-associated box (4);	.	.	.	.	T	0.05686	0.0149	M	0.77103	2.36	0.24575	N	0.993904	B	0.14438	0.01	B	0.18263	0.021	T	0.35549	-0.9784	9	0.59425	D	0.04	.	3.3007	0.06982	0.194:0.4802:0.0:0.3257	.	50	P52740	ZN132_HUMAN	D	50;19	ENSP00000254166:E50D	ENSP00000254166:E50D	E	-	3	2	ZNF132	63640308	0.884000	0.30299	0.852000	0.33557	0.869000	0.49853	0.387000	0.20718	0.092000	0.17331	-0.309000	0.09137	GAG		0.512	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		5	54	5	54	---	---	---	---	A	58948496	C	A	58948496	3	1	73	1	0	0	0	0	1	0	0	0	17719	680	24	1	1978	1	ZNF132	19	58948496	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3270586	58948496	180487	433	3982										
CSNK2A1	1457	broad.mit.edu	37	chr20	476423	476423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatctctgtgcataattccCatgctgtgacaataatccag	6	11	1	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.chr20:476423C>A	ENST00000217244.3	-	8	825	c.450G>T	c.(448-450)atG>atT	p.M150I	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.M150I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCATAATTCCCATGCTGTGAC	0.408																																						ENST00000217244.3																			1	Substitution - Missense(1)	p.M150I(1)	lung(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(448-450)atG>atT		casein kinase 2, alpha 1 polypeptide							143	121	129					20																	476423		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:476423C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.450G>T	20.37:g.476423C>A	ENSP00000217244:p.Met150Ile		Somatic				CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	p.M150I	NM_177559.2	NP_808227.1	WXS	Illumina GAIIx	Phase_I	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		8	825	-		Breast(17;0.231)	150			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.450G>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991643	0.93106	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.12	5.12	0.69794	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	0.54498	0.1862	N	0.13299	0.325	0.80722	D	1	P	0.47253	0.892	P	0.47299	0.543	T	0.61486	-0.7053	10	0.59425	D	0.04	-15.1743	17.7401	0.88404	0.0:1.0:0.0:0.0	.	150	P68400	CSK21_HUMAN	I	150;150;150;150;14	ENSP00000383086:M150I;ENSP00000339247:M150I;ENSP00000217244:M150I;ENSP00000383076:M14I	ENSP00000217244:M150I	M	-	3	0	CSNK2A1	424423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.668000	0.90789	0.591000	0.81541	ATG		0.408	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		7	87	7	87	---	---	---	---	A	476423	C	A	476423	3	1	73	1	0	0	0	0	1	0	0	0	3957	594	21	1	753	1	CSNK2A1	20	476423	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		476423	62549097	434	3983										
ATRN	8455	broad.mit.edu	37	chr20	3564686	3564686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcctacgtggcctccttccCttttggccagtgtatggaat	10	12	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.chr20:3564686C>A	ENST00000262919.5	+	17	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H	ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	969	PSI 3.				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						GCCTCCTTCCCTTTTGGCCAG	0.537																																						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.(2905-2907)cCt>cAt		attractin							359	292	315					20																	3564686		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564686C>A	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.2906C>A	20.37:g.3564686C>A	ENSP00000262919:p.Pro969His		Somatic				ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	p.P969H	NM_139321.2	NP_647537.1	WXS	Illumina GAIIx	Phase_I	O75882	ATRN_HUMAN			17	2974	+			969			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2906C>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691834	0.88735	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.07021	3.23;3.3	5.64	5.64	0.86602	.	0.108901	0.64402	D	0.000005	T	0.35098	0.0920	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.09015	-1.0694	10	0.72032	D	0.01	-11.9296	19.2939	0.94114	0.0:1.0:0.0:0.0	.	969;969	O75882;O75882-2	ATRN_HUMAN;.	H	969;969;895	ENSP00000262919:P969H;ENSP00000416587:P969H	ENSP00000262919:P969H	P	+	2	0	ATRN	3512686	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.787000	0.85759	2.645000	0.89757	0.585000	0.79938	CCT		0.537	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		8	316	8	316	---	---	---	---	A	3564686	C	A	3564686	3	1	73	1	0	0	0	0	1	0	0	0	1206	681	24	1	2972	1	ATRN	20	3564686	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3088263	3564686	59460834	435	3984										
FLRT3	23767	broad.mit.edu	37	chr20	14306228	14306228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgtgagtgatctgagtctGgaataccactgtctctgtag	12	7	3	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.chr20:14306228G>T	ENST00000378053.3	-	2	2181	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	642					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)		ATCTGAGTCTGGAATACCACT	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1924-1926)cCa>cAa		fibronectin leucine rich transmembrane protein 3							307	262	277					20																	14306228		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306228G>T	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.1925C>A	20.37:g.14306228G>T	ENSP00000367292:p.Pro642Gln		Somatic				MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q	p.P642Q	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2181	-		Colorectal(1;0.0464)	642					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1925C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916021	0.52546	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.68765	-0.35;-0.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81226	-0.1029	10	0.87932	D	0	-11.4739	20.8598	0.99761	0.0:0.0:1.0:0.0	.	642	Q9NZU0	FLRT3_HUMAN	Q	642	ENSP00000367292:P642Q;ENSP00000339912:P642Q	ENSP00000339912:P642Q	P	-	2	0	FLRT3	14254228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.937000	0.99478	0.650000	0.86243	CCA		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		6	155	6	155	---	---	---	---	T	14306228	G	T	14306228	3	4	73	1	0	0	0	0	1	0	0	0	5940	1348	47	1	28	1	FLRT3	20	14306228	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	10741542	14306228	48719292	436	3985										
ACSS1	84532	broad.mit.edu	37	chr20	24993555	24993555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctcagttcggtaagcccCgtctccagtgaagtaatagc	10	13	2	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.chr20:24993555C>A	ENST00000323482.4	-	11	1679	c.1600G>T	c.(1600-1602)Ggg>Tgg	p.G534W	ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.G451W|ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	534					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)	CGGTAAGCCCCGTCTCCAGTG	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.(1351-1353)Ggg>Tgg		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						152	135	141					20																	24993555		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.chr20:24993555C>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.1600G>T	20.37:g.24993555C>A	ENSP00000316924:p.Gly534Trp		Somatic				ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W|ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000323482.4_Missense_Mutation_p.G534W	p.G451W			WXS	Illumina GAIIx	Phase_I	Q9NUB1	ACS2L_HUMAN			9	2882	-			534					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1351G>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413109	0.62511	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.38	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.70275	2.135	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	0.69235	-0.5198	10	0.87932	D	0	-21.9067	16.4041	0.83652	0.0:1.0:0.0:0.0	.	329;532;534;451	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	W	534;329;451;534;413	ENSP00000316924:G534W;ENSP00000439304:G451W;ENSP00000388793:G534W;ENSP00000437657:G413W	ENSP00000316924:G534W	G	-	1	0	ACSS1	24941555	1.000000	0.71417	0.978000	0.43139	0.413000	0.31143	5.568000	0.67385	2.357000	0.79964	0.655000	0.94253	GGG		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		5	95	5	95	---	---	---	---	A	24993555	C	A	24993555	3	1	73	1	0	0	0	0	1	0	0	0	188	652	23	1	485	1	ACSS1	20	24993555	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	10687327	24993555	38031965	437	3986										
FOXS1	2307	broad.mit.edu	37	chr20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggttccttgtggtcagttgGcaggggcagtggggcccgga	20	8	1	0	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		Somatic					p.P292S	NM_004118.3	NP_004109.1	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	A	30432472	G	A	30432472	3	1	73	1	0	0	0	0	1	0	0	0	6035	1203	42	2	122	2	FOXS1	20	30432472	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	5438917	30432472	32593048	438	3987										
SUN5	140732	broad.mit.edu	37	chr20	31571702	31571702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtgaagcctgggttcccCcagttgcttgagatcttcac	10	12	2	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.chr20:31571702C>A	ENST00000356173.3	-	13	1130	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	346	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGGTTCCCCCAGTTGCTTG	0.597																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1036-1038)tgG>tgT		Sad1 and UNC84 domain containing 5							90	95	93					20																	31571702		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31571702C>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1038G>T	20.37:g.31571702C>A	ENSP00000348496:p.Trp346Cys		Somatic				SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	p.W346C	NM_080675.3	NP_542406.2	WXS	Illumina GAIIx	Phase_I	Q8TC36	SUN5_HUMAN			13	1130	-			346			SUN.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.1038G>T	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887108	0.72410	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.48836	0.8;0.8	4.73	4.73	0.59995	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78102	-0.2335	10	0.72032	D	0.01	-14.8735	13.5801	0.61898	0.0:1.0:0.0:0.0	.	346	Q8TC36	SUN5_HUMAN	C	346;321	ENSP00000348496:W346C;ENSP00000364673:W321C	ENSP00000348496:W346C	W	-	3	0	SUN5	31035363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.510000	0.67018	2.338000	0.79540	0.563000	0.77884	TGG		0.597	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		6	119	6	119	---	---	---	---	A	31571702	C	A	31571702	3	1	73	1	0	0	0	0	1	0	0	0	15391	624	22	1	105	1	SUN5	20	31571702	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1139230	31571702	31453818	439	3988										
RBM39	9584	broad.mit.edu	37	chr20	34312596	34312596	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaactccacataagcaattcCtttggaacgtcttgaatttc	6	10	1	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.chr20:34312596C>A	ENST00000253363.6	-	8	606	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000361162.6_Nonsense_Mutation_p.G195*			Q14498	RBM39_HUMAN	RNA binding motif protein 39	195	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)			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)					TAAGCAATTCCTTTGGAACGT	0.418																																						ENST00000361162.6																			0				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.(583-585)Gga>Tga		RNA binding motif protein 39							139	126	130					20																	34312596		2203	4300	6503	SO:0001587	stop_gained	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34312596C>A	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.583G>T	20.37:g.34312596C>A	ENSP00000253363:p.Gly195*		Somatic				RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000253363.6_Nonsense_Mutation_p.G195*	p.G195*	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	WXS	Illumina GAIIx	Phase_I	Q14498	RBM39_HUMAN			8	967	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		195			RRM 1.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Nonsense_Mutation	SNP	ENST00000253363.6	37	c.583G>T	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.699361|5.699361	0.96802|0.96802	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038;ENST00000427743|ENST00000448303	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76485	.|0.3994	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74942	.|-0.3492	.|3	0.87932|.	D|.	0|.	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	195;195;173;38;194;173|67	.|.	ENSP00000253363:G195X|.	G|R	-|-	1|2	0|0	RBM39|RBM39	33776010|33776010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.743000|7.743000	0.85020|0.85020	2.672000|2.672000	0.90937|0.90937	0.558000|0.558000	0.71614|0.71614	GGA|AGG		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		7	85	7	85	---	---	---	---	A	34312596	C	A	34312596	4	1	73	1	0	0	0	0	0	1	0	0	13133	690	24	1	1049	1	RBM39	20	34312596	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2740894	34312596	28712924	440	3989										
KIAA0406	9675	broad.mit.edu	37	chr20	36640476	36640476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccatcatcagctcctctccCatttcctcagtttcaagaca	3	16	5	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.chr20:36640476C>A	ENST00000373448.2	-	3	1981	c.1743G>T	c.(1741-1743)atG>atT	p.M581I	TTI1_ENST00000373447.3_Missense_Mutation_p.M581I|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	581					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						GCTCCTCTCCCATTTCCTCAG	0.448																																						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.(1741-1743)atG>atT		TELO2 interacting protein 1							139	145	143					20																	36640476		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640476C>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.1743G>T	20.37:g.36640476C>A	ENSP00000362547:p.Met581Ile		Somatic				TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I|TTI1_ENST00000373447.3_Missense_Mutation_p.M581I	p.M581I	NM_014657.1	NP_055472.1	WXS	Illumina GAIIx	Phase_I	O43156	TTI1_HUMAN			3	1981	-			581					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1743G>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621486	0.03636	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13089	2.62;2.62;2.62	3.78	2.74	0.32292	Armadillo-type fold (1);	0.576194	0.19372	N	0.115898	T	0.05273	0.0140	N	0.04508	-0.205	0.23454	N	0.997645	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.30078	T	0.28	.	5.6656	0.17693	0.0:0.5918:0.2909:0.1173	.	581	O43156	TTI1_HUMAN	I	581	ENSP00000362547:M581I;ENSP00000362546:M581I;ENSP00000407270:M581I	ENSP00000362546:M581I	M	-	3	0	TTI1	36073890	0.000000	0.05858	0.980000	0.43619	0.509000	0.34042	0.058000	0.14301	2.124000	0.65301	0.655000	0.94253	ATG		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		7	223	7	223	---	---	---	---	A	36640476	C	A	36640476	3	1	73	1	0	0	0	0	1	0	0	0	8173	594	21	1	1554	1	KIAA0406	20	36640476	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2327880	36640476	26385044	441	3990										
RALGAPB	57148	broad.mit.edu	37	chr20	37194025	37194025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatttcctctgaagatattGgagctagcattttcaatgga	9	6	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.chr20:37194025G>T	ENST00000262879.6	+	25	4005	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1241	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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						TGAAGATATTGGAGCTAGCAT	0.383																																						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.(3721-3723)Gga>Tga		Ral GTPase activating protein, beta subunit (non-catalytic)							208	204	206					20																	37194025		2203	4300	6503	SO:0001587	stop_gained	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37194025G>T	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.3721G>T	20.37:g.37194025G>T	ENSP00000262879:p.Gly1241*		Somatic				RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*	p.G1241*			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			25	4005	+			1241			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.3721G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	48	14.474380	0.99797	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	.	.	.	X	1241;1238;1020;1241;1070	.	ENSP00000262879:G1241X	G	+	1	0	RALGAPB	36627439	1.000000	0.71417	0.974000	0.42286	0.734000	0.41952	9.415000	0.97375	2.558000	0.86282	0.467000	0.42956	GGA		0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	174	6	174	---	---	---	---	T	37194025	G	T	37194025	4	4	73	1	0	0	0	0	0	1	0	0	13015	1349	47	1	3815	1	RALGAPB	20	37194025	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	553549	37194025	25831495	442	3991										
CHD6	84181	broad.mit.edu	37	chr20	40052148	40052148	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccgccatctttccatgtGggtagacgacagacattccg	9	13	2	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.chr20:40052148G>T	ENST00000373233.3	-	30	4716	c.4539C>A	c.(4537-4539)ccC>ccA	p.P1513P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1513					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)				CTTTCCATGTGGGTAGACGAC	0.408																																						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.(4537-4539)ccC>ccA		chromodomain helicase DNA binding protein 6							254	281	272					20																	40052148		2203	4300	6503	SO:0001819	synonymous_variant	84181				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.chr20:40052148G>T	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.4539C>A	20.37:g.40052148G>T			Somatic					p.P1513P	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			30	4716	-		Myeloproliferative disorder(115;0.00425)	1513					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4539C>A	CCDS13317.1																																																																																				0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	513	10	513	---	---	---	---	T	40052148	G	T	40052148	2	4	73	1	0	0	0	0	0	0	0	1	3329	1335	47	1		1	CHD6	20	40052148	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2858123	40052148	22973372	443	3992										
PIGT	51604	broad.mit.edu	37	chr20	44054219	44054219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcccctgaccccaggttccCagtctctgatggctctaact	7	16	2	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.chr20:44054219C>A	ENST00000279036.6	+	12	1570	c.1490C>A	c.(1489-1491)cCa>cAa	p.P497Q	PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	497					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCAGGTTCCCAGTCTCTGAT	0.587																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1489-1491)cCa>cAa		phosphatidylinositol glycan anchor biosynthesis, class T							64	59	60					20																	44054219		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44054219C>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1490C>A	20.37:g.44054219C>A	ENSP00000279036:p.Pro497Gln		Somatic				PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	p.P497Q	NM_015937.5	NP_057021.2	WXS	Illumina GAIIx	Phase_I	Q969N2	PIGT_HUMAN			12	1570	+		Myeloproliferative disorder(115;0.0122)	497					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1490C>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775670	0.90195	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.42900	0.99;0.98;0.99;0.99;0.98;0.97;0.96	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	L	0.43923	1.385	0.80722	D	1	D;P;D;D;D;D;P;D;D	0.89917	0.995;0.577;0.998;1.0;0.998;0.999;0.529;0.999;0.999	D;B;P;D;D;D;B;D;D	0.97110	0.944;0.139;0.899;1.0;0.939;0.961;0.376;0.991;0.985	T	0.37079	-0.9721	10	0.13853	T	0.58	-21.469	19.3546	0.94407	0.0:1.0:0.0:0.0	.	335;395;342;441;342;286;235;173;497	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	Q	441;430;395;497;235;303;342	ENSP00000441577:P441Q;ENSP00000361774:P430Q;ENSP00000279035:P395Q;ENSP00000279036:P497Q;ENSP00000443963:P235Q;ENSP00000343783:P303Q;ENSP00000440528:P342Q	ENSP00000279035:P395Q	P	+	2	0	PIGT	43487633	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.413000	0.80104	2.894000	0.99253	0.655000	0.94253	CCA		0.587	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		4	34	4	34	---	---	---	---	A	44054219	C	A	44054219	3	1	73	1	0	0	0	0	1	0	0	0	11899	594	21	1	1536	1	PIGT	20	44054219	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4002071	44054219	18971301	444	3993										
ZNF334	55713	broad.mit.edu	37	chr20	45130191	45130191	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacattcatatggtttctccCcagtgtgagttcgctgatgt	9	9	2	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.chr20:45130191C>A	ENST00000347606.4	-	5	1969	c.1787G>T	c.(1786-1788)gGg>gTg	p.G596V	ZNF334_ENST00000457685.2_Missense_Mutation_p.G558V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	596					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)				TGGTTTCTCCCCAGTGTGAGT	0.428																																						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.(1672-1674)gGg>gTg		zinc finger protein 334							124	118	120					20																	45130191		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130191C>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.1787G>T	20.37:g.45130191C>A	ENSP00000255129:p.Gly596Val		Somatic				ZNF334_ENST00000347606.4_Missense_Mutation_p.G596V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V	p.G558V			WXS	Illumina GAIIx	Phase_I	Q9HCZ1	ZN334_HUMAN			6	2996	-		Myeloproliferative disorder(115;0.0122)	596					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1673G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260742	0.59431	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.01599	4.74;4.74	3.01	3.01	0.34805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	M	0.73598	2.24	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02444	-1.1158	9	0.87932	D	0	.	11.8554	0.52435	0.0:1.0:0.0:0.0	.	558;596;619	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	V	558;596	ENSP00000402582:G558V;ENSP00000255129:G596V	ENSP00000255129:G596V	G	-	2	0	ZNF334	44563598	0.864000	0.29904	1.000000	0.80357	0.961000	0.63080	2.288000	0.43514	1.684000	0.51022	0.591000	0.81541	GGG		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			7	124	7	124	---	---	---	---	A	45130191	C	A	45130191	3	1	73	1	0	0	0	0	1	0	0	0	17848	623	22	1	259	1	ZNF334	20	45130191	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1075972	45130191	17895329	445	3994										
PREX1	57580	broad.mit.edu	37	chr20	47317359	47317359	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctttcctggatgttgccCgcagagatctttaacaaagt	9	11	1	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.chr20:47317359C>A	ENST00000371941.3	-	7	871	c.849G>T	c.(847-849)gcG>gcT	p.A283A	PREX1_ENST00000396220.1_Silent_p.A283A	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	283	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A283A(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATGTTGCCCGCAGAGATCT	0.547																																						ENST00000396220.1																			2	Substitution - coding silent(2)	p.A283A(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(847-849)gcG>gcT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							211	202	205					20																	47317359		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47317359C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.849G>T	20.37:g.47317359C>A			Somatic				PREX1_ENST00000371941.3_Silent_p.A283A	p.A283A			WXS	Illumina GAIIx	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		7	871	-			283			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.849G>T	CCDS13410.1																																																																																				0.547	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		6	230	6	230	---	---	---	---	A	47317359	C	A	47317359	2	1	73	1	0	0	0	0	0	0	0	1	12476	639	23	1		1	PREX1	20	47317359	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	2187168	47317359	15708161	446	3995										
BCAS1	8537	broad.mit.edu	37	chr20	52644936	52644936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttggcacacttaccttccCtgcagggacatcatcggact	8	15	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.chr20:52644936C>A	ENST00000395961.3	-	4	884	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	240						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)			CTTACCTTCCCTGCAGGGACA	0.557																																						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.(718-720)Ggg>Tgg		breast carcinoma amplified sequence 1							291	247	262					20																	52644936		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52644936C>A	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.718G>T	20.37:g.52644936C>A	ENSP00000379290:p.Gly240Trp		Somatic				BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	p.G240W	NM_003657.2	NP_003648.2	WXS	Illumina GAIIx	Phase_I	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	884	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		240					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.718G>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580460	0.28180	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.11	2.02	0.26589	.	0.394050	0.28057	N	0.016779	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	P;P;P;D;P;P	0.61697	0.924;0.844;0.844;0.99;0.929;0.929	P;P;P;P;P;P	0.52758	0.518;0.518;0.518;0.708;0.599;0.599	T	0.14090	-1.0485	10	0.72032	D	0.01	-5.2465	8.1341	0.31043	0.0:0.6159:0.3014:0.0827	.	143;240;240;240;240;240	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	W	102;240;118;240;240;143	ENSP00000396361:G102W;ENSP00000360495:G240W;ENSP00000379290:G240W;ENSP00000360490:G240W;ENSP00000397442:G143W	ENSP00000360490:G240W	G	-	1	0	BCAS1	52078343	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.890000	0.28295	0.238000	0.21222	-0.257000	0.10917	GGG		0.557	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	198	7	198	---	---	---	---	A	52644936	C	A	52644936	3	1	73	1	0	0	0	0	1	0	0	0	1350	681	24	1	1072	1	BCAS1	20	52644936	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	5327577	52644936	10380584	447	3996										
DIDO1	11083	broad.mit.edu	37	chr20	61513251	61513251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacggaggtgccggcacccCgtcctctgctgtggttttgg	14	13	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.chr20:61513251C>A	ENST00000266070.4	-	16	4382	c.4057G>T	c.(4057-4059)Ggg>Tgg	p.G1353W	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	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>Tgg		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>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.4057G>T	20.37:g.61513251C>A	ENSP00000266070:p.Gly1353Trp		Somatic				DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	p.G1353W	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	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>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134688	0.56828	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	5.4	3.04	0.35103	.	0.790616	0.10541	N	0.662729	T	0.28995	0.0720	M	0.75447	2.3	0.09310	N	1	D	0.69078	0.997	D	0.63283	0.913	T	0.07673	-1.0760	10	0.87932	D	0	-24.5856	9.0535	0.36392	0.0:0.7258:0.0:0.2742	.	1353	Q9BTC0	DIDO1_HUMAN	W	1353	ENSP00000266070:G1353W;ENSP00000378752:G1353W	ENSP00000266070:G1353W	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		5	163	5	163	---	---	---	---	A	61513251	C	A	61513251	3	1	73	1	0	0	0	0	1	0	0	0	4522	652	23	1	2669	1	DIDO1	20	61513251	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	8868315	61513251	1512269	448	3997										
MYT1	4661	broad.mit.edu	37	chr20	62854504	62854504	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acggcagcggccacatcaccGggaactacgcctcccaccgc	10	19	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.chr20:62854504G>T	ENST00000328439.1	+	15	2801	c.2437G>T	c.(2437-2439)Ggg>Tgg	p.G813W	MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000536311.1_Missense_Mutation_p.G840W	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)					CCACATCACCGGGAACTACGC	0.637																																					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.(2518-2520)Ggg>Tgg		myelin transcription factor 1							150	146	148					20																	62854504		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.chr20:62854504G>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.2437G>T	20.37:g.62854504G>T	ENSP00000327465:p.Gly813Trp		Somatic				MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000328439.1_Missense_Mutation_p.G813W	p.G840W			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			15	2882	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		813					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2518G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865425	0.71949	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.59638	0.77;0.25;0.26	5.5	5.5	0.81552	.	0.064329	0.64402	D	0.000009	T	0.81697	0.4877	M	0.89715	3.055	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	0.85301	0.1073	10	0.87932	D	0	-33.0508	19.3909	0.94583	0.0:0.0:1.0:0.0	.	840;813;515	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	W	515;813;840	ENSP00000353269:G515W;ENSP00000327465:G813W;ENSP00000442412:G840W	ENSP00000327465:G813W	G	+	1	0	MYT1	62324948	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.688000	0.98670	2.568000	0.86640	0.655000	0.94253	GGG		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	192	5	192	---	---	---	---	T	62854504	G	T	62854504	3	4	73	1	0	0	0	0	1	0	0	0	10106	1116	39	1	2487	1	MYT1	20	62854504	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	1341253	62854504	171016	449	3998										
RNF160	26046	broad.mit.edu	37	chr21	30304866	30304866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctactcctactcttttccCactttctactattattgaac	2	13	2	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.chr21:30304866C>A	ENST00000361371.5	-	28	5075	c.4996G>T	c.(4996-4998)Ggg>Tgg	p.G1666W	LTN1_ENST00000389194.2_Missense_Mutation_p.G1712W			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1666					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G1666W(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						ACTCTTTTCCCACTTTCTACT	0.403																																						ENST00000389194.2																			1	Substitution - Missense(1)	p.G1666W(1)	lung(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.(5134-5136)Ggg>Tgg		listerin E3 ubiquitin protein ligase 1							186	184	184					21																	30304866		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30304866C>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.4996G>T	21.37:g.30304866C>A	ENSP00000354977:p.Gly1666Trp		Somatic				LTN1_ENST00000361371.5_Missense_Mutation_p.G1666W	p.G1712W	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			28	5139	-			1666					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.5134G>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.331426	0.81690	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20881	2.04;2.05	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60234	-0.7303	10	0.66056	D	0.02	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	1666	O94822	LTN1_HUMAN	W	1712;1666	ENSP00000373846:G1712W;ENSP00000354977:G1666W	ENSP00000354977:G1666W	G	-	1	0	LTN1	29226737	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.443000	0.80521	2.798000	0.96311	0.655000	0.94253	GGG		0.403	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		7	264	7	264	---	---	---	---	A	30304866	C	A	30304866	3	1	73	1	0	0	0	0	1	0	0	0	13455	594	21	1	316	1	RNF160	21	30304866	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		30304866	17825029	450	3999										
GCFC1	94104	broad.mit.edu	37	chr21	34117169	34117169	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attaattttagtgtaattccCaccattcttgaagtctgtgt	6	7	2	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.chr21:34117169C>A	ENST00000331923.4	-	13	2313	c.2124G>T	c.(2122-2124)gtG>gtT	p.V708V	PAXBP1_ENST00000290178.4_Silent_p.V708V|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	708				Missing (in Ref. 5; AAD34617). {ECO:0000305}.	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)	p.V708V(1)									GTGTAATTCCCACCATTCTTG	0.318																																						ENST00000331923.4																			1	Substitution - coding silent(1)	p.V708V(1)	lung(1)								c.(2122-2124)gtG>gtT		PAX3 and PAX7 binding protein 1							108	118	115					21																	34117169		2203	4298	6501	SO:0001819	synonymous_variant	94104							g.chr21:34117169C>A	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.2124G>T	21.37:g.34117169C>A			Somatic				PAXBP1_ENST00000290178.4_Silent_p.V708V	p.V708V	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					13	2313	-								D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	c.2124G>T	CCDS13619.1																																																																																				0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		6	177	6	177	---	---	---	---	A	34117169	C	A	34117169	2	1	73	1	0	0	0	0	0	0	0	1	6289	581	21	1		1	GCFC1	21	34117169	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	3812303	34117169	14012726	451	4000										
PRDM15	63977	broad.mit.edu	37	chr21	43223036	43223036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttcgcttggcagctttccCgtgcttcccttcggccaaat	8	15	0	0	rs535368225		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.chr21:43223036C>A	ENST00000269844.3	-	30	3987	c.3877G>T	c.(3877-3879)Ggg>Tgg	p.G1293W	PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.G984W|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1293					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(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTTTCCCGTGCTTCCCT	0.577																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2950-2952)Ggg>Tgg		PR domain containing 15							149	162	157					21																	43223036		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43223036C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3877G>T	21.37:g.43223036C>A	ENSP00000269844:p.Gly1293Trp		Somatic				PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W|PRDM15_ENST00000269844.3_Missense_Mutation_p.G1293W	p.G984W	NM_001282934.1	NP_001269863.1	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			24	3051	-			1293					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2950G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.028376	0.35797	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08546	3.13;3.13;3.14;3.12;3.08	4.9	-1.37	0.09056	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	D;P;P	0.64830	0.994;0.888;0.953	P;B;B	0.51615	0.675;0.256;0.24	T	0.30475	-0.9977	9	0.38643	T	0.18	-0.3593	3.0029	0.06019	0.3509:0.1849:0.0:0.4642	.	1293;984;964	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	W	984;964;947;927;1293	ENSP00000408592:G984W;ENSP00000381556:G964W;ENSP00000444044:G947W;ENSP00000390245:G927W;ENSP00000269844:G1293W	ENSP00000269844:G1293W	G	-	1	0	PRDM15	42096105	0.000000	0.05858	0.002000	0.10522	0.226000	0.24999	0.022000	0.13511	-0.131000	0.11578	-0.359000	0.07587	GGG		0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		6	298	6	298	---	---	---	---	A	43223036	C	A	43223036	3	1	73	1	0	0	0	0	1	0	0	0	12456	652	23	1	654	1	PRDM15	21	43223036	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	9105867	43223036	4906859	452	4001										
SLC19A1	6573	broad.mit.edu	37	chr21	46951361	46951361	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acccgcgcactgttggtggtGgggtccacctcgttccacag	13	14	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.chr21:46951361G>T	ENST00000311124.4	-	3	1043	c.891C>A	c.(889-891)ccC>ccA	p.P297P	SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	297					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)	TGTTGGTGGTGGGGTCCACCT	0.657																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(889-891)ccC>ccA		solute carrier family 19 (folate transporter), member 1							56	63	60					21																	46951361		2203	4300	6503	SO:0001819	synonymous_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.chr21:46951361G>T	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.891C>A	21.37:g.46951361G>T			Somatic				SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	p.P297P	NM_194255.2	NP_919231.1	WXS	Illumina GAIIx	Phase_I	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1043	-			297					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.891C>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.453920	0.26161	.	.	ENSG00000173638	ENST00000417954	D	0.85411	-1.98	4.33	-1.53	0.08611	.	0.593958	0.17670	N	0.165995	T	0.77987	0.4213	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.68907	-0.5285	7	0.62326	D	0.03	-11.7023	1.984	0.03433	0.2395:0.3597:0.2725:0.1283	.	.	.	.	Q	32	ENSP00000393988:P32Q	ENSP00000393988:P32Q	P	-	2	0	SLC19A1	45775789	0.012000	0.17670	0.000000	0.03702	0.575000	0.36095	-0.747000	0.04823	-0.246000	0.09611	0.313000	0.20887	CCA		0.657	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			5	95	5	95	---	---	---	---	T	46951361	G	T	46951361	2	4	73	1	0	0	0	0	0	0	0	1	14428	1335	47	1		1	SLC19A1	21	46951361	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	3728325	46951361	1178534	453	4002										
POTEH	23784	broad.mit.edu	37	chr22	16287667	16287667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgttgctcttgccgctcccCctgcaccaggggaagcagtg	12	15	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.chr22:16287667C>A	ENST00000343518.6	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577																																						ENST00000343518.6																			1	Substitution - coding silent(1)	p.R73R(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(217-219)agG>agT		POTE ankyrin domain family, member H							98	113	108					22																	16287667		2095	3915	6010	SO:0001583	missense	23784							g.chr22:16287667C>A	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.219G>T	22.37:g.16287667C>A	ENSP00000340610:p.Arg73Ser		Somatic					p.R73S	NM_001136213.1	NP_001129685.1	WXS	Illumina GAIIx	Phase_I	Q6S545	POTEH_HUMAN			1	270	-			73					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.219G>T	CCDS46658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	5.509|5.509	0.278802|0.278802	0.10458|0.10458	.|.	.|.	ENSG00000198062|ENSG00000198062	ENST00000359587|ENST00000343518;ENST00000355872	.|T	.|0.31510	.|1.49	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26774	.|0.0655	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P	.|0.34662	.|0.462	.|B	.|0.36534	.|0.227	.|T	.|0.25710	.|-1.0124	.|7	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|73	.|Q6S545	.|POTEH_HUMAN	.|S	-1|73	.|ENSP00000340610:R73S	.|ENSP00000340610:R73S	.|R	-|-	.|3	.|2	POTEH|POTEH	14667667|14667667	0.010000|0.010000	0.17322|0.17322	0.050000|0.050000	0.19076|0.19076	0.051000|0.051000	0.14879|0.14879	0.275000|0.275000	0.18698|0.18698	0.149000|0.149000	0.19098|0.19098	0.152000|0.152000	0.16155|0.16155	.|AGG		0.577	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	329	8	329	---	---	---	---	A	16287667	C	A	16287667	3	1	73	1	0	0	0	0	1	0	0	0	12267	622	22	1	1458	1	POTEH	22	16287667	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		16287667	35016899	454	4003										
CECR1	51816	broad.mit.edu	37	chr22	17688080	17688080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatctgaactgcatgatcccCcttggggtgaaacagatgtg	11	9	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.chr22:17688080C>A	ENST00000399839.1	-	3	693	c.423G>T	c.(421-423)agG>agT	p.R141S	CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	141	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCATGATCCCCCTTGGGGTGA	0.537																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(421-423)agG>agT		cat eye syndrome chromosome region, candidate 1							148	143	145					22																	17688080		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17688080C>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.423G>T	22.37:g.17688080C>A	ENSP00000382733:p.Arg141Ser		Somatic				CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S	p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			3	693	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	141			PRB domain.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.423G>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	5.479	0.273354	0.10403	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.34	-1.83	0.07833	.	0.552015	0.18856	N	0.129251	T	0.63390	0.2507	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48811	-0.9002	10	0.09338	T	0.73	.	8.8334	0.35098	0.4724:0.4496:0.0:0.078	.	141	Q9NZK5	CECR1_HUMAN	S	141;141;99;141;141	ENSP00000382733:R141S;ENSP00000262607:R141S;ENSP00000406443:R99S;ENSP00000382731:R141S;ENSP00000442482:R141S	ENSP00000262607:R141S	R	-	3	2	CECR1	16068080	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.170000	0.09897	-0.057000	0.13199	0.555000	0.69702	AGG		0.537	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			6	130	6	130	---	---	---	---	A	17688080	C	A	17688080	3	1	73	1	0	0	0	0	1	0	0	0	3205	622	22	1	1178	1	CECR1	22	17688080	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1400413	17688080	33616486	455	4004										
CLTCL1	8218	broad.mit.edu	37	chr22	19198013	19198013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcaggatcaacagattctgTagattcctgaggagagaggg	14	6	3	4	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_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_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			Somatic				CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L	p.L1024L	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	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	3	47	---	---	---	---	C	19198013	T	C	19198013	2	2	73	1	0	0	0	0	0	0	0	1	3567	1625	57	2		2	CLTCL1	22	19198013	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	1509933	19198013	32106553	456	4005										
RAB36	9609	broad.mit.edu	37	chr22	23500217	23500217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcactgacgtgcagaccCtggagcataccaggtaagtc	10	13	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.chr22:23500217C>A	ENST00000263116.2	+	7	671	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	211					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CGTGCAGACCCTGGAGCATAC	0.627																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(631-633)Ctg>Atg		RAB36, member RAS oncogene family							154	144	147					22																	23500217		2203	4300	6503	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23500217C>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.631C>A	22.37:g.23500217C>A	ENSP00000263116:p.Leu211Met		Somatic				RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	p.L211M	NM_004914.2	NP_004905.2	WXS	Illumina GAIIx	Phase_I	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	671	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		211					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.631C>A	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888969	0.72524	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.79554	-1.28;-1.28	5.37	4.34	0.51931	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000007	D	0.88217	0.6377	M	0.80616	2.505	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.88482	0.3069	10	0.87932	D	0	-22.9986	9.3236	0.37980	0.0:0.9035:0.0:0.0965	.	189;211	O95755-2;O95755	.;RAB36_HUMAN	M	211;189	ENSP00000263116:L211M;ENSP00000343494:L189M	ENSP00000263116:L211M	L	+	1	2	RAB36	21830217	0.938000	0.31826	0.995000	0.50966	0.838000	0.47535	1.941000	0.40233	2.677000	0.91161	0.557000	0.71058	CTG		0.627	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		7	192	7	192	---	---	---	---	A	23500217	C	A	23500217	3	1	73	1	0	0	0	0	1	0	0	0	12926	680	24	1	657	1	RAB36	22	23500217	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4302204	23500217	27804349	457	4006										
BCR	613	broad.mit.edu	37	chr22	23524102	23524102	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcaggtcctactcccccCggagttttgaggattgcgga	12	14	0	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.chr22:23524102C>A	ENST00000305877.8	+	1	1706	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	319	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)	CTACTCCCCCCGGAGTTTTGA	0.652			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.(955-957)Cgg>Agg		breakpoint cluster region							22	24	23					22																	23524102		2203	4299	6502	SO:0001819	synonymous_variant	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.chr22:23524102C>A		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.955C>A	22.37:g.23524102C>A			Somatic				BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	p.R319R	NM_004327.3	NP_004318.3	WXS	Illumina GAIIx	Phase_I	P11274	BCR_HUMAN			1	1706	+			319			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.955C>A	CCDS13806.1																																																																																				0.652	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		3	21	3	21	---	---	---	---	A	23524102	C	A	23524102	2	1	73	1	0	0	0	0	0	0	0	1	1388	643	23	1		1	BCR	22	23524102	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	23885	23524102	27780464	458	4007										
C22orf36	2678	broad.mit.edu	37	chr22	24982284	24982284	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccatggctgctcaggtagCgtgtgatgtgttgcacgtcc	13	11	1	1	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_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.R173H	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			Somatic				GGT1_ENST00000248923.4_Intron	p.R173H	NM_207644.2	NP_997527.2	WXS	Illumina GAIIx	Phase_I	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	81	130	---	---	---	---	T	24982284	C	T	24982284	1	4	73	0	1	0	0	0	0	0	0	0	2146	768	27	2		2	C22orf36	22	24982284	Intron	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1458182	24982284	26322282	459	4008										
TMEM211	255349	broad.mit.edu	37	chr22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatttttatttgttcatttCtggcacaaagatgattctct	6	6	3	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.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*		Somatic				TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*	p.E126*			WXS	Illumina GAIIx	Phase_I	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	42	80	---	---	---	---	A	25331314	C	A	25331314	4	1	73	1	0	0	0	0	0	1	0	0	16132	922	32	3	17	3	TMEM211	22	25331314	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	349030	25331314	25973252	460	4009										
ASCC2	84164	broad.mit.edu	37	chr22	30200815	30200815	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgtaggcagtccgcgtctCgtccctgtgaggacttgtta	13	10	1	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.chr22:30200815C>A	ENST00000397771.2	-	14	1342	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*|ASCC2_ENST00000478812.1_5'Flank			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	389					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)			GTCCGCGTCTCGTCCCTGTGA	0.547																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1165-1167)Gag>Tag		activating signal cointegrator 1 complex subunit 2							230	196	207					22																	30200815		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30200815C>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.1165G>T	22.37:g.30200815C>A	ENSP00000380877:p.Glu389*		Somatic				ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*	p.E389*			WXS	Illumina GAIIx	Phase_I	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		14	1342	-			389					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.1165G>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.440246	0.98286	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-30.6634	17.8532	0.88754	0.0:1.0:0.0:0.0	.	.	.	.	X	389;389;313	.	ENSP00000305502:E389X	E	-	1	0	ASCC2	28530815	1.000000	0.71417	0.986000	0.45419	0.445000	0.32107	6.443000	0.73447	2.769000	0.95229	0.563000	0.77884	GAG		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		6	232	6	232	---	---	---	---	A	30200815	C	A	30200815	4	1	73	1	0	0	0	0	0	1	0	0	1032	893	31	3	1140	3	ASCC2	22	30200815	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	4869501	30200815	21103751	461	4010										
MORC2	22880	broad.mit.edu	37	chr22	31328983	31328983	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacggcccgtgtaccactcCctgttcacacgcacctccac	6	20	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.chr22:31328983C>A	ENST00000397641.3	-	22	2823	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R743S			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	805						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGTACCACTCCCTGTTCACAC	0.577																																						ENST00000397641.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2413-2415)agG>agT		MORC family CW-type zinc finger 2							264	237	246					22																	31328983		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31328983C>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2415G>T	22.37:g.31328983C>A	ENSP00000380763:p.Arg805Ser		Somatic				MORC2_ENST00000215862.4_Missense_Mutation_p.R743S	p.R805S			WXS	Illumina GAIIx	Phase_I	Q9Y6X9	MORC2_HUMAN			22	2823	-								B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2415G>T		.	.	.	.	.	.	.	.	.	.	C	16.85	3.235674	0.58886	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.11930	2.73;2.73	5.95	1.58	0.23477	.	0.316336	0.39909	N	0.001238	T	0.09555	0.0235	L	0.36672	1.1	0.80722	D	1	B	0.20887	0.049	B	0.16722	0.016	T	0.15122	-1.0448	10	0.44086	T	0.13	.	6.0588	0.19826	0.1243:0.6157:0.0:0.26	.	805	Q9Y6X9	MORC2_HUMAN	S	805;743	ENSP00000380763:R805S;ENSP00000215862:R743S	ENSP00000215862:R743S	R	-	3	2	MORC2	29658983	0.991000	0.36638	0.999000	0.59377	0.998000	0.95712	0.373000	0.20484	0.414000	0.25790	0.655000	0.94253	AGG		0.577	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		9	317	9	317	---	---	---	---	A	31328983	C	A	31328983	3	1	73	1	0	0	0	0	1	0	0	0	9702	622	22	1	703	1	MORC2	22	31328983	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	1128168	31328983	19975583	462	4011										
IL3RA	3563	broad.mit.edu	37	chrX	1464312	1464312	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcgagtgtgttaaagacgcCgactattctatgccggtaaa	10	8	1	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.chrX:1464312C>A	ENST00000331035.4	+	3	517	c.168C>A	c.(166-168)gcC>gcA	p.A56A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	56					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)	TTAAAGACGCCGACTATTCTA	0.348																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(166-168)gcC>gcA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						260	242	248					X																	1464312		2200	4296	6496	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464312C>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.168C>A	X.37:g.1464312C>A			Somatic				IL3RA_ENST00000381469.2_Intron	p.A56A	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	P26951	IL3RA_HUMAN			3	517	+		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)	56					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.168C>A	CCDS14113.1																																																																																				0.348	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			5	225	5	225	---	---	---	---	A	1464312	C	A	1464312	2	1	73	1	0	0	0	0	0	0	0	1	7695	639	23	1		1	IL3RA	23	1464312	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		1464312	153806248	463	4012										
NLGN4X	57502	broad.mit.edu	37	chrX	5811275	5811275	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgacgccccgacggcaatGgtgacacttaattcggtgga	13	11	0	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.chrX:5811275G>T	ENST00000381095.3	-	6	2661	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T	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	678					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.T678T(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						CGACGGCAATGGTGACACTTA	0.512																																						ENST00000381095.3																			1	Substitution - coding silent(1)	p.T678T(1)	lung(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.(2032-2034)acC>acA		neuroligin 4, X-linked							105	102	103					X																	5811275		2203	4298	6501	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:5811275G>T	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.2034C>A	X.37:g.5811275G>T			Somatic				NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T	p.T678T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			6	2661	-			678					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2034C>A	CCDS14126.1																																																																																				0.512	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		5	77	5	77	---	---	---	---	T	5811275	G	T	5811275	2	4	73	1	0	0	0	0	0	0	0	1	10464	1335	47	1		1	NLGN4X	23	5811275	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	4346963	5811275	149459285	464	4013										
KAL1	3730	broad.mit.edu	37	chrX	8502428	8502428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggccggcccctcccctcctGgggtcagcacttgcacttcc	10	19	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.chrX:8502428G>T	ENST00000262648.3	-	13	2065	c.1916C>A	c.(1915-1917)cCa>cAa	p.P639Q	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	639	Fibronectin type-III 4. {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						CTCCCCTCCTGGGGTCAGCAC	0.562																																						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.(1915-1917)cCa>cAa		Kallmann syndrome 1 sequence							68	46	54					X																	8502428		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:8502428G>T		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.1916C>A	X.37:g.8502428G>T	ENSP00000262648:p.Pro639Gln		Somatic					p.P639Q	NM_000216.2	NP_000207.2	WXS	Illumina GAIIx	Phase_I	P23352	KALM_HUMAN			13	2065	-			639			Fibronectin type-III 4.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1916C>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	8.349	0.830479	0.16749	.	.	ENSG00000011201	ENST00000262648	T	0.55413	0.52	4.21	3.35	0.38373	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.362898	0.30791	N	0.008877	T	0.34716	0.0907	N	0.08118	0	0.09310	N	1	B	0.27380	0.177	B	0.37387	0.248	T	0.31971	-0.9924	10	0.23891	T	0.37	-0.3646	10.5048	0.44828	0.0978:0.0:0.9022:0.0	.	639	P23352	KALM_HUMAN	Q	639	ENSP00000262648:P639Q	ENSP00000262648:P639Q	P	-	2	0	KAL1	8462428	0.893000	0.30496	0.001000	0.08648	0.112000	0.19704	5.116000	0.64661	0.633000	0.30452	0.600000	0.82982	CCA		0.562	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		4	20	4	20	---	---	---	---	T	8502428	G	T	8502428	3	4	73	1	0	0	0	0	1	0	0	0	7974	1348	47	1	134	1	KAL1	23	8502428	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	2691153	8502428	146768132	465	4014										
GRIPAP1	56850	broad.mit.edu	37	chrX	48847438	48847438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatgggggccaggacggtgGgggccgggccccctggggga	23	11	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.chrX:48847438G>T	ENST00000376441.1	-	7	576	c.542C>A	c.(541-543)cCc>cAc	p.P181H	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.P128H|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	181						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGGACGGTGGGGGCCGGGCC	0.607																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(382-384)cCc>cAc		GRIP1 associated protein 1							42	42	42					X																	48847438		2201	4299	6500	SO:0001583	missense	56850					early endosome		g.chrX:48847438G>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.542C>A	X.37:g.48847438G>T	ENSP00000365624:p.Pro181His		Somatic				GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P181H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H	p.P128H			WXS	Illumina GAIIx	Phase_I	Q4V328	GRAP1_HUMAN			6	415	-			181					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.383C>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776714	0.31411	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.21	3.33	0.38152	.	0.644397	0.14697	N	0.303794	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;P	0.47409	0.429;0.005;0.895	B;B;P	0.49301	0.323;0.021;0.606	T	0.06092	-1.0846	9	0.51188	T	0.08	-0.6032	9.0661	0.36465	0.1145:0.0:0.8855:0.0	.	128;71;181	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	H	181;136;181;181;128	.	ENSP00000365606:P128H	P	-	2	0	GRIPAP1	48732382	0.053000	0.20554	0.003000	0.11579	0.079000	0.17450	0.654000	0.24918	0.866000	0.35629	0.556000	0.70494	CCC		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		5	47	5	47	---	---	---	---	T	48847438	G	T	48847438	3	4	73	1	0	0	0	0	1	0	0	0	6789	1232	43	1	2117	1	GRIPAP1	23	48847438	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	40345010	48847438	106423122	466	4015										
SYP	6855	broad.mit.edu	37	chrX	49050744	49050744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagaattcggctgacgagGagtagtccccaactaagaag	11	9	0	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.chrX:49050744G>T	ENST00000263233.4	-	4	374	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	SYP_ENST00000479808.1_Missense_Mutation_p.S101Y|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	101	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCTGACGAGGAGTAGTCCCC	0.572																																						ENST00000263233.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15						c.(301-303)tCc>tAc		synaptophysin							99	81	87					X																	49050744		2203	4300	6503	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49050744G>T	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.302C>A	X.37:g.49050744G>T	ENSP00000263233:p.Ser101Tyr		Somatic				SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.S101Y	p.S101Y	NM_003179.2	NP_003170.1	WXS	Illumina GAIIx	Phase_I	P08247	SYPH_HUMAN			4	374	-		all_lung(315;0.00016)	101			MARVEL.		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.302C>A	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431309	0.83776	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.28454	1.61;1.61	4.48	4.48	0.54585	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72659	-0.4226	10	0.87932	D	0	2.6218	15.1432	0.72626	0.0:0.0:1.0:0.0	.	101	P08247	SYPH_HUMAN	Y	101	ENSP00000263233:S101Y;ENSP00000418169:S101Y	ENSP00000263233:S101Y	S	-	2	0	SYP	48937688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.596000	0.98267	2.077000	0.62373	0.600000	0.82982	TCC		0.572	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		4	31	4	31	---	---	---	---	T	49050744	G	T	49050744	3	4	73	1	0	0	0	0	1	0	0	0	15458	1174	41	3	651	3	SYP	23	49050744	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	203306	49050744	106219816	467	4016										
SLC6A14	11254	broad.mit.edu	37	chrX	115572207	115572207	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttctggagtgttcactGggacaatttgctagcttagg	11	7	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.chrX:115572207G>T	ENST00000371900.4	+	3	376	c.288G>T	c.(286-288)ctG>ctT	p.L96L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	96					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGTGTTCACTGGGACAATTTG	0.388																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(286-288)ctG>ctT		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						360	317	331					X																	115572207		2203	4300	6503	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115572207G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.288G>T	X.37:g.115572207G>T			Somatic					p.L96L	NM_007231.3	NP_009162.1	WXS	Illumina GAIIx	Phase_I	Q9UN76	S6A14_HUMAN			3	376	+			96					Q5H942	Silent	SNP	ENST00000371900.4	37	c.288G>T	CCDS14570.1																																																																																				0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			6	168	6	168	---	---	---	---	T	115572207	G	T	115572207	2	4	73	1	0	0	0	0	0	0	0	1	14677	1335	47	1		1	SLC6A14	23	115572207	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	66521463	115572207	39698353	468	4017										
DUSP9	1852	broad.mit.edu	37	chrX	152915608	152915608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccccaacttcaacttcatgGggcagttgctggactttgag	10	12	2	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.chrX:152915608G>T	ENST00000342782.3	+	4	1268	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	335	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGGGCAGTTGCT	0.602																																						ENST00000342782.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(1003-1005)Ggg>Tgg		dual specificity phosphatase 9							215	187	196					X																	152915608		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915608G>T	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1003G>T	X.37:g.152915608G>T	ENSP00000345853:p.Gly335Trp		Somatic				DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W	p.G335W			WXS	Illumina GAIIx	Phase_I	Q99956	DUS9_HUMAN			4	1268	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		335			Tyrosine-protein phosphatase.		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.1003G>T	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.6|25.6	4.654026|4.654026	0.88056|0.88056	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000370167;ENST00000342782|ENST00000433144	D;D|.	0.86164|.	-2.08;-2.08|.	4.53|4.53	4.53|4.53	0.55603|0.55603	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.75391|0.75391	0.3843|0.3843	M|M	0.77712|0.77712	2.385|2.385	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77219|0.77219	-0.2668|-0.2668	10|5	0.87932|.	D|.	0|.	.|.	15.4615|15.4615	0.75359|0.75359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	Q99956|.	DUS9_HUMAN|.	W|C	335|305	ENSP00000359186:G335W;ENSP00000345853:G335W|.	ENSP00000345853:G335W|.	G|W	+|+	1|3	0|0	DUSP9|DUSP9	152568802|152568802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.413000|9.413000	0.97351|0.97351	2.248000|2.248000	0.74166|0.74166	0.529000|0.529000	0.55759|0.55759	GGG|TGG		0.602	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		6	122	6	122	---	---	---	---	T	152915608	G	T	152915608	3	4	73	1	0	0	0	0	1	0	0	0	4832	1232	43	1	1013	1	DUSP9	23	152915608	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	37343401	152915608	2354952	469	4018										
UTP11L	51118	broad.mit.edu	37	chr1	38478519	38478519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	gctaagtcccggcagcgggaAcacagagagcgaagccaggt	15	11	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.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		Somatic				UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	p.E15D	NM_016037.3	NP_057121.2	WXS	Illumina GAIIx	Phase_I	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	23	82	---	---	---	---	C	38478519	A	C	38478519	3	2	74	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	4019										
BCAS2	10286	broad.mit.edu	37	chr1	115123932	115123932	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	atacttacttcaaaggcagaAtaatccggggctgtcaggta	10	8	2	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.chr1:115123932A>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*		Somatic				BCAS2_ENST00000485021.1_5'UTR	p.Y58*	NM_005872.2	NP_005863.1	WXS	Illumina GAIIx	Phase_I	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	18	178	---	---	---	---	C	115123932	A	C	115123932	4	2	74	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	76645413	115123932	134126689	2	4020										
FLG2	388698	broad.mit.edu	37	chr1	152324080	152324080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tctcatgaactgaggatcctGactctccatgttgagatccg	9	11	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.chr1:152324080G>A	ENST00000388718.5	-	3	6254	c.6182C>T	c.(6181-6183)tCa>tTa	p.S2061L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S2061L	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	53	485	---	---	---	---	A	152324080	G	A	152324080	3	1	74	1	0	0	0	0	1	0	0	0	5923	1294	45	2	997	2	FLG2	1	152324080	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	37200148	152324080	96926541	3	4021										
LCE1C	353133	broad.mit.edu	37	chr1	152777721	152777721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	gacctacggcgcctgtggtgGctcaggcagcagccacctcc	13	16	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.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			Somatic				LCE1C_ENST00000607093.1_Silent_p.S78S	p.S78S	NM_178351.3	NP_848128.1	WXS	Illumina GAIIx	Phase_I	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	8	63	---	---	---	---	A	152777721	G	A	152777721	2	1	74	1	0	0	0	0	0	0	0	1	8661	1194	42	2		2	LCE1C	1	152777721	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	453641	152777721	96472900	4	4022										
ZBTB41	360023	broad.mit.edu	37	chr1	197169426	197169426	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	agaacttaaaagctttctctGatctggagagggaggaagtt	12	5	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.chr1:197169426G>A	ENST00000367405.4	-	1	246	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	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*		Somatic				ZBTB41_ENST00000467322.1_5'UTR	p.Q60*	NM_194314.2	NP_919290.2	WXS	Illumina GAIIx	Phase_I	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	7	57	---	---	---	---	A	197169426	G	A	197169426	4	1	74	1	0	0	0	0	0	1	0	0	17540	1299	45	2	2591	2	ZBTB41	1	197169426	Nonsense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	44391705	197169426	52081195	5	4023										
TTN	7273	broad.mit.edu	37	chr2	179449074	179449074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	atccagctttgtttagggcaTagattctgaatgaatactca	8	7	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.chr2:179449074T>C	ENST00000591111.1	-	261	60505	c.60281A>G	c.(60280-60282)tAt>tGt	p.Y20094C	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_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.Y12795C|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y21735C			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		Somatic				TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20094C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.Y21735C	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	6	97	---	---	---	---	C	179449074	T	C	179449074	3	2	74	1	0	0	0	0	1	0	0	0	16732	1406	49	2	42983	2	TTN	2	179449074	Missense_Mutation	SNP	T	TCGA-EJ-7218-01B-11D-A32B-08		179449074	63750299	6	4024										
TTN	7273	broad.mit.edu	37	chr2	179615125	179615125	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	gatgaacagatgaaagagttAatattgaatagttttccaac	8	4	0	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.chr2:179615125A>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.L4001*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|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)			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			Somatic				TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.L4001*	NM_133379.3	NP_596870.2	WXS	Illumina GAIIx	Phase_I	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	5	55	---	---	---	---	C	179615125	A	C	179615125	1	2	74	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	7	4025										
NAT6	24142	broad.mit.edu	37	chr3	50334946	50334946	+	5'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ttggctgggccagggctcagAgtcagctcttgcctatgcac	13	12	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.chr3:50334946A>C	ENST00000443842.1	-	0	756				HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000443094.2_5'UTR|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_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			Somatic				HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_5'UTR|NAT6_ENST00000443842.1_5'UTR|NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron	p.T5T	NM_012191.3	NP_036323.2	WXS	Illumina GAIIx	Phase_I				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	4	18	---	---	---	---	C	50334946	A	C	50334946	1	2	74	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	8	4026										
CP	1356	broad.mit.edu	37	chr3	148895640	148895640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ctcttaccttgtattggaagCtatggccgtgaaaatgtaca	9	8	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.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		Somatic					p.S1002I	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	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	5	99	---	---	---	---	A	148895640	C	A	148895640	3	1	74	1	0	0	0	0	1	0	0	0	3787	797	28	3	204	3	CP	3	148895640	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	98560694	148895640	49126790	9	4027										
LEPREL1	55214	broad.mit.edu	37	chr3	189702344	189702344	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tctgaatggacttaccgattCtcatcctgtcgtcctccata	6	13	2	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.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		Somatic				LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	p.E408D	NM_018192.3	NP_060662.2	WXS	Illumina GAIIx	Phase_I	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	3	44	---	---	---	---	A	189702344	C	A	189702344	3	1	74	1	0	0	0	0	1	0	0	0	8730	912	32	3	938	3	LEPREL1	3	189702344	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	40806704	189702344	8320086	10	4028										
EGF	1950	broad.mit.edu	37	chr4	110864414	110864414	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	aaatttgattttgcagagagTatgtaatatagagaaaaatg	9	1	0	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.chr4:110864414T>G	ENST00000265171.5	+	3	777	c.332T>G	c.(331-333)gTa>gGa	p.V111G	EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	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		Somatic				EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	p.V111G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	WXS	Illumina GAIIx	Phase_I	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	11	35	---	---	---	---	G	110864414	T	G	110864414	3	3	74	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		110864414	80289862	11	4029										
COL9A1	1297	broad.mit.edu	37	chr6	70961830	70961830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	aaggaatactcacaggaagcCcctggggtcctcggggtccc	13	13	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.chr6:70961830C>T	ENST00000357250.6	-	28	2023	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E	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		Somatic				COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E	p.G622E	NM_001851.4	NP_001842.3	WXS	Illumina GAIIx	Phase_I	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	4	136	---	---	---	---	T	70961830	C	T	70961830	3	4	74	1	0	0	0	0	1	0	0	0	3707	623	22	2	944	2	COL9A1	6	70961830	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		70961830	100153237	12	4030										
DNAH11	8701	broad.mit.edu	37	chr7	21826345	21826345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tcctcggggaagagtgcccaAagaccgaagttggaaagcag	14	9	0	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.chr7:21826345A>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		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.K3234R	p.K3241R			WXS	Illumina GAIIx	Phase_I	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	15	94	---	---	---	---	G	21826345	A	G	21826345	3	3	74	1	0	0	0	0	1	0	0	0	4599	14	1	2	9957	2	DNAH11	7	21826345	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		21826345	137312318	13	4031										
ELMO1	9844	broad.mit.edu	37	chr7	36910037	36910037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	cctttctctttcatatgaggGcagtcctttcccgtcaccac	6	15	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.chr7:36910037G>A	ENST00000310758.4	-	20	2513	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	ELMO1_ENST00000396040.2_Silent_p.C142C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000448602.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C	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			Somatic				ELMO1_ENST00000448602.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000396040.2_Silent_p.C142C	p.C622C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina GAIIx	Phase_I	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	6	76	---	---	---	---	A	36910037	G	A	36910037	2	1	74	1	0	0	0	0	0	0	0	1	5065	1195	42	2		2	ELMO1	7	36910037	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	15083692	36910037	122228626	14	4032										
MUC17	140453	broad.mit.edu	37	chr7	100678485	100678485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	cagttcctctcctacaaccgCtgaaggtaccagcttgccaa	7	15	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.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		Somatic					p.A1263V	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	84	293	---	---	---	---	T	100678485	C	T	100678485	3	4	74	1	0	0	0	0	1	0	0	0	9974	797	28	2	3798	2	MUC17	7	100678485	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	63768448	100678485	58460178	15	4033										
CRYGN	155051	broad.mit.edu	37	chr7	151127216	151127216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	gtccttgatctgattgaagaGagctgctcagctggaagtcc	12	9	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.chr7:151127216G>C	ENST00000337323.2	-	4	593	c.467C>G	c.(466-468)tCt>tGt	p.S156C	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA|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		Somatic				RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_3'UTR|CRYGN_ENST00000476631.1_5'UTR	p.S156C	NM_144727.1	NP_653328.1	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	C	151127216	G	C	151127216	3	2	74	1	0	0	0	0	1	0	0	0	3918	942	33	4	85	4	CRYGN	7	151127216	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	50448731	151127216	8011447	16	4034										
LZTS1	11178	broad.mit.edu	37	chr8	20110914	20110914	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ggcaggctggacatggagttCcggccggagtctgacagcgc	17	11	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.chr8:20110914C>T	ENST00000381569.1	-	3	885	c.528G>A	c.(526-528)cgG>cgA	p.R176R	LZTS1_ENST00000265801.6_Silent_p.R176R|LZTS1_ENST00000522290.1_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			Somatic				LZTS1_ENST00000265801.6_Silent_p.R176R|LZTS1_ENST00000522290.1_Silent_p.R176R	p.R176R			WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	T	20110914	C	T	20110914	2	4	74	1	0	0	0	0	0	0	0	1	9138	842	30	2		2	LZTS1	8	20110914	Silent	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		20110914	126253108	17	4035										
LINGO2	158038	broad.mit.edu	37	chr9	27950458	27950458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tgaattcttcagggttgacgCtttttagcctgtttttactg	9	7	2	2	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		Somatic				LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	p.S71I	NM_152570.2	NP_689783.1	WXS	Illumina GAIIx	Phase_I	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	18	171	---	---	---	---	A	27950458	C	A	27950458	3	1	74	1	0	0	0	0	1	0	0	0	8815	797	28	3	1612	3	LINGO2	9	27950458	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08		27950458	113262973	18	4036										
OR5D18	219438	broad.mit.edu	37	chr11	55587196	55587196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tgcaagtcccactcttcctgGtttttctggccatctacaat	6	13	3	0	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		Somatic					p.V31F	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	T	55587196	G	T	55587196	3	4	74	1	0	0	0	0	1	0	0	0	11157	1261	44	3	93	3	OR5D18	11	55587196	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		55587196	79419320	19	4037										
LTBP3	4054	broad.mit.edu	37	chr11	65314313	65314313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tgcggtagccaggctgacagGcgatgcacttgaagctcccg	14	12	0	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_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D|LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	15	44	---	---	---	---	T	65314313	G	T	65314313	3	4	74	1	0	0	0	0	1	0	0	0	9075	1203	42	3	1781	3	LTBP3	11	65314313	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	9727117	65314313	69692203	20	4038										
RSF1	51773	broad.mit.edu	37	chr11	77412339	77412339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ctctggcattctaccacttcTttttctgaggctagtttctc	6	12	5	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.chr11:77412339T>G	ENST00000308488.6	-	6	2237	c.1935A>C	c.(1933-1935)aaA>aaC	p.K645N	RSF1_ENST00000480887.1_Missense_Mutation_p.K393N|RSF1_ENST00000360355.2_Missense_Mutation_p.K614N			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		Somatic				RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N	p.K645N			WXS	Illumina GAIIx	Phase_I	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	18	179	---	---	---	---	G	77412339	T	G	77412339	3	3	74	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	21	4039										
CCDC15	80071	broad.mit.edu	37	chr11	124857123	124857123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	tattctgccagaagcccaggAttattttctagaagcccaag	8	10	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.chr11:124857123A>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		Somatic				CCDC15_ENST00000344762.5_Missense_Mutation_p.D334G	p.D334G			WXS	Illumina GAIIx	Phase_I	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	8	60	---	---	---	---	G	124857123	A	G	124857123	3	3	74	1	0	0	0	0	1	0	0	0	2784	333	12	2	1027	2	CCDC15	11	124857123	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08	47444784	124857123	10149393	22	4040										
ERI2	112479	broad.mit.edu	37	chr16	20811285	20811285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	taatgtatactaaccagaatGttctcgtcctgagaattcta	6	8	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.chr16:20811285G>A	ENST00000357967.4	-	7	679	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000564349.1_Missense_Mutation_p.H120Y	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		Somatic				ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000357967.4_Missense_Mutation_p.H213Y	p.H120Y			WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	A	20811285	G	A	20811285	3	1	74	1	0	0	0	0	1	0	0	0	5228	1377	48	2	1717	2	ERI2	16	20811285	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		20811285	69543468	23	4041										
HOXB13	10481	broad.mit.edu	37	chr17	46805519	46805519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ccagagtctgcaccacagacAcgtccaggtaactggccata	9	14	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.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		Somatic					p.V146A	NM_006361.5	NP_006352.2	WXS	Illumina GAIIx	Phase_I	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	16	70	---	---	---	---	G	46805519	A	G	46805519	3	3	74	1	0	0	0	0	1	0	0	0	7300	159	6	2	425	2	HOXB13	17	46805519	Missense_Mutation	SNP	A	TCGA-EJ-7218-01B-11D-A32B-08		46805519	34389691	24	4042										
SOCS6	9306	broad.mit.edu	37	chr18	67992626	67992626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ggaaggatcacggagctattGtctggacagctcttctccca	11	11	4	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.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		Somatic				SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	p.C241F	NM_004232.3	NP_004223.2	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	T	67992626	G	T	67992626	3	4	74	1	0	0	0	0	1	0	0	0	14918	1377	48	3	724	3	SOCS6	18	67992626	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		67992626	10084622	25	4043										
ZBED4	9889	broad.mit.edu	37	chr22	50278227	50278227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ggacaactccaaagctgtctGcattcactgcatgaacgagt	9	11	2	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																																						ENST00000216268.5																			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		Somatic					p.C306Y	NM_014838.2	NP_055653.2	WXS	Illumina GAIIx	Phase_I	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)						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	4	84	---	---	---	---	A	50278227	G	A	50278227	3	1	74	1	0	0	0	0	1	0	0	0	17517	1319	46	2	919	2	ZBED4	22	50278227	Missense_Mutation	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08		50278227	1026339	26	4044										
PDK3	5165	broad.mit.edu	37	chrX	24545741	24545741	+	Frame_Shift_Del	DEL	C	C	-													0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	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)tacfs		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		Somatic				PDK3_ENST00000379162.4_Frame_Shift_Del_p.Y267fs	p.Y267fs	NM_001142386.2	NP_001135858.1	WXS	Illumina GAIIx	Phase_I	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	74	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	27	4045										
DCAF12L1	139170	broad.mit.edu	37	chrX	125685212	125685212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	ggtcatccttagctccagagGcctgcatagttcccatggag	11	12	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.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			Somatic					p.G460G	NM_178470.4	NP_848565.2	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	A	125685212	G	A	125685212	2	1	74	1	0	0	0	0	0	0	0	1	4264	1190	42	2		2	DCAF12L1	23	125685212	Silent	SNP	G	TCGA-EJ-7218-01B-11D-A32B-08	101139471	125685212	29585348	28	4046										
SASH3	54440	broad.mit.edu	37	chrX	128927061	128927061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.103448275862069	3	1	1.67448680351906	6.13978494623656	1.22795698924731	1	1	0	atgagctgaacatcatggatCcacagcaccgggccaagctg	11	12	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.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		Somatic					p.P300T	NM_018990.3	NP_061863.1	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	A	128927061	C	A	128927061	3	1	74	1	0	0	0	0	1	0	0	0	13849	855	30	3	924	3	SASH3	23	128927061	Missense_Mutation	SNP	C	TCGA-EJ-7218-01B-11D-A32B-08	3241849	128927061	26343499	29	4047										
COL24A1	255631	broad.mit.edu	37	chr1	86488275	86488275	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	cctgctgtgccttgttcaccCtggaaagcacaatttcatgc	8	13	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.chr1:86488275C>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			Somatic				COL24A1_ENST00000436319.1_Splice_Site		NM_152890.5	NP_690850.2	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	A	86488275	C	A	86488275	5	1	75	1	0	0	0	0	0	0	1	0	3683	695	24	1	3172	1	COL24A1	1	86488275	Splice_Site	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		86488275	162762346	1	4048										
NBPF14	25832	broad.mit.edu	37	chr1	148004650	148004650	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	agggcgaagctgatatgctcTtcctcaaatgagtaaaacac	9	9	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.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			Somatic					p.E888E			WXS	Illumina GAIIx	Phase_I	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	89	334	---	---	---	---	C	148004650	T	C	148004650	2	2	75	1	0	0	0	0	0	0	0	1	10194	1606	56	2		2	NBPF14	1	148004650	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	61516375	148004650	101245971	2	4049										
FCER1A	2205	broad.mit.edu	37	chr1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	tcaagtactggtatgagaacCacaacatctccattacaaat	5	10	2	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.chr1:159275921C>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		Somatic				FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	p.H159N	NM_002001.3	NP_001992.1	WXS	Illumina GAIIx	Phase_I	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	22	74	---	---	---	---	A	159275921	C	A	159275921	3	1	75	1	0	0	0	0	1	0	0	0	5774	594	21	1	489	1	FCER1A	1	159275921	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	11271271	159275921	89974700	3	4050										
SEC16B	89866	broad.mit.edu	37	chr1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gctgacctcctggcccgaaaCtcacaggaacatgagggatg	12	12	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.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N|RP4-798P15.3_ENST00000354921.3_RNA	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		Somatic				RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.S284N	p.S283N	NM_033127.2	NP_149118.2	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	T	177930014	C	T	177930014	3	4	75	1	0	0	0	0	1	0	0	0	13987	565	20	2	2414	2	SEC16B	1	177930014	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	18654093	177930014	71320607	4	4051										
URB2	9816	broad.mit.edu	37	chr1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gggcccctccacggtactctCtgcatgcctcctggagctgc	11	17	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.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		Somatic					p.S499F	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	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	41	117	---	---	---	---	T	229771856	C	T	229771856	3	4	75	1	0	0	0	0	1	0	0	0	17022	913	32	2	1506	2	URB2	1	229771856	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	51841842	229771856	19478765	5	4052										
PSD4	23550	broad.mit.edu	37	chr2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	aagtgagaatctgaggacacCgatgaactcttcttggcttc	10	9	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																																						ENST00000441564.3																			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.(1561-1563)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		Somatic				PSD4_ENST00000245796.6_Missense_Mutation_p.P549L	p.P521L			WXS	Illumina GAIIx	Phase_I	Q8NDX1	PSD4_HUMAN			6	1731	+								A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1562C>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	25	211	---	---	---	---	T	113949974	C	T	113949974	3	4	75	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	4053										
ATF2	1386	broad.mit.edu	37	chr2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	tgcacacatacctggcagaaTtcacatgtaacttgaatttc	6	10	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.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409437.1_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		Somatic				ATF2_ENST00000392544.1_Missense_Mutation_p.N8I|ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000392543.2_5'UTR	p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	WXS	Illumina GAIIx	Phase_I	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	11	144	---	---	---	---	A	176001149	T	A	176001149	3	1	75	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	4054										
BMPR2	659	broad.mit.edu	37	chr2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	tttacagagtgcctttgatgGaacatgacaacattgcccgc	9	10	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.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		Somatic				BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	p.E253Q	NM_001204.6	NP_001195.2	WXS	Illumina GAIIx	Phase_I	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	39	109	---	---	---	---	C	203383680	G	C	203383680	3	2	75	1	0	0	0	0	1	0	0	0	1471	1175	41	4	779	4	BMPR2	2	203383680	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	27382531	203383680	39815693	8	4055										
PDCL2	132954	broad.mit.edu	37	chr4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	cagcctgcatatcttcttcaTcaaattcatcttcagcttcc	3	14	7	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.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		Somatic					p.D62G	NM_152401.2	NP_689614.2	WXS	Illumina GAIIx	Phase_I	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	3	9	---	---	---	---	C	56447021	T	C	56447021	3	2	75	1	0	0	0	0	1	0	0	0	11627	1435	50	2	556	2	PDCL2	4	56447021	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		56447021	134707255	9	4056										
PDLIM5	10611	broad.mit.edu	37	chr4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gtgtgtcactggttggcccaGctccttggggtttccggctg	15	11	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.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T	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		Somatic				PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T	p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	WXS	Illumina GAIIx	Phase_I	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	4	35	---	---	---	---	A	95376473	G	A	95376473	3	1	75	1	0	0	0	0	1	0	0	0	11683	971	34	2	36	2	PDLIM5	4	95376473	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	38929452	95376473	95777803	10	4057										
CAPSL	133690	broad.mit.edu	37	chr5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-													0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	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)aagfs		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		Somatic				CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	p.K122fs	NM_144647.3	NP_653248.3	WXS	Illumina GAIIx	Phase_I	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	75	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	11	4058										
PCDHA8	56140	broad.mit.edu	37	chr5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gggcgagatcagcaccactcGtgtcctggacgaagcggact	14	12	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.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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	56140							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		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	p.R635H	NM_018911.2	NP_061734.1	WXS	Illumina GAIIx	Phase_I			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	13	76	---	---	---	---	A	140222810	G	A	140222810	3	1	75	1	0	0	0	0	1	0	0	0	11530	1145	40	2	1906	2	PCDHA8	5	140222810	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	104312682	140222810	40692450	12	4059										
LARS	51520	broad.mit.edu	37	chr5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	cggtgtactcctttcccaggAcaggaactcgtcgaggcccc	11	15	0	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.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA	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		Somatic				LARS_ENST00000274562.9_Missense_Mutation_p.V1103G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G	p.V1130G	NM_020117.9	NP_064502.9	WXS	Illumina GAIIx	Phase_I	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	27	71	---	---	---	---	C	145493811	A	C	145493811	3	2	75	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	13	4060										
C6orf138	442213	broad.mit.edu	37	chr6	47846330	47846330	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gtcccatggtcttgcaaggaGctttttatacattgtgttcg	10	8	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.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			Somatic					p.S750S	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	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	9	23	---	---	---	---	A	47846330	G	A	47846330	2	1	75	1	0	0	0	0	0	0	0	1	2332	962	34	2		2	C6orf138	6	47846330	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08		47846330	123268737	14	4061										
FAM120B	84498	broad.mit.edu	37	chr6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	atacaggccctgaatccaggCaagaagttttaatacggaca	9	9	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.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	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*		Somatic				FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*	p.Q483*	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	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	9	200	---	---	---	---	T	170627925	C	T	170627925	4	4	75	1	0	0	0	0	0	1	0	0	5417	711	25	2	1449	2	FAM120B	6	170627925	Nonsense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	122781595	170627925	487142	15	4062										
FABP4	2167	broad.mit.edu	37	chr8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-													0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	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	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	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)agafs		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		Somatic				FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	p.R131fs	NM_001442.2	NP_001433.1	WXS	Illumina GAIIx	Phase_I	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	75	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	16	4063										
PDP1	54704	broad.mit.edu	37	chr8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	atgggttgtgggagactatgCataggcaggatgtggttagg	18	3	0	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.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_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000396200.3_Missense_Mutation_p.H450Y	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		Somatic				PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y	p.H450Y	NM_001161779.1	NP_001155251.1	WXS	Illumina GAIIx	Phase_I	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	7	120	---	---	---	---	T	94935560	C	T	94935560	3	4	75	1	0	0	0	0	1	0	0	0	11685	710	25	2	1456	2	PDP1	8	94935560	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	12544453	94935560	51428462	17	4064										
VPS13B	157680	broad.mit.edu	37	chr8	100866333	100866333	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	cagccagtaaatttgctcgtCagcatccacgcttccctcaa	6	15	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.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			Somatic				VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	p.V3597V	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	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	10	80	---	---	---	---	T	100866333	C	T	100866333	2	4	75	1	0	0	0	0	0	0	0	1	17187	813	29	2		2	VPS13B	8	100866333	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	5930773	100866333	45497689	18	4065										
ASPN	54829	broad.mit.edu	37	chr9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-													0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	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	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs	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)agtfs		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		Somatic				CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs	p.S163fs	NM_017680.4	NP_060150	WXS	Illumina GAIIx	Phase_I	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	75	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	19	4066										
JMJD1C	221037	broad.mit.edu	37	chr10	64967187	64967187	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gataaagaggaaattacttcTgaaccaccccagctggaaac	8	10	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.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S|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			Somatic				JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	p.S1414S	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	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	17	148	---	---	---	---	G	64967187	T	G	64967187	2	3	75	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		64967187	70567560	20	4067										
VAX1	11023	broad.mit.edu	37	chr10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gttcttcgagacccgggcagCctcggcgtccgagtggcatc	14	14	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.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		Somatic				VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	p.A18S	NM_199131.2	NP_954582.1	WXS	Illumina GAIIx	Phase_I	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	8	88	---	---	---	---	A	118897516	C	A	118897516	3	1	75	1	0	0	0	0	1	0	0	0	17131	739	26	3	1104	3	VAX1	10	118897516	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	53930329	118897516	16637231	21	4068										
MS4A14	84689	broad.mit.edu	37	chr11	60164141	60164141	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	actgcatttccctacagaccTcatagctctctgctggattt	6	13	2	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.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395001.1_5'UTR	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			Somatic				MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Silent_p.P30P|MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000531787.1_Intron	p.P30P	NM_032597.4	NP_115986.3	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	C	60164141	T	C	60164141	2	2	75	1	0	0	0	0	0	0	0	1	9858	1538	54	2		2	MS4A14	11	60164141	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		60164141	74842375	22	4069										
DDN	23109	broad.mit.edu	37	chr12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	aaaccagatctgttctccttCtttcccttccctcgagccct	4	17	3	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.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_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		Somatic					p.E376K	NM_015086.1	NP_055901.2	WXS	Illumina GAIIx	Phase_I	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	15	43	---	---	---	---	T	49391533	C	T	49391533	3	4	75	1	0	0	0	0	1	0	0	0	4333	922	32	2	1013	2	DDN	12	49391533	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		49391533	84460362	23	4070										
EPB42	2038	broad.mit.edu	37	chr15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	tcccccagactggaaattggGaatgtggcttgggtcctgtt	13	9	0	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.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		Somatic				EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron	p.F109L			WXS	Illumina GAIIx	Phase_I	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	11	99	---	---	---	---	T	43507486	G	T	43507486	3	4	75	1	0	0	0	0	1	0	0	0	5158	1165	41	3	1882	3	EPB42	15	43507486	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08		43507486	59023906	24	4071										
UBE2I	7329	broad.mit.edu	37	chr16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	acaggaacttctaaatgaacCaaatatccaagacccagctc	5	12	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.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L	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		Somatic				UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L	p.P123L	NM_194260.2	NP_919236.1	WXS	Illumina GAIIx	Phase_I	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	6	93	---	---	---	---	T	1370473	C	T	1370473	3	4	75	1	0	0	0	0	1	0	0	0	16856	594	21	2	386	2	UBE2I	16	1370473	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		1370473	88984280	25	4072										
PLEKHH3	79990	broad.mit.edu	37	chr17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	ggcaggcggccacatggccaTagctgacactgtggatgggc	16	11	0	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_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.Y703F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F	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		Somatic				PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F	p.Y703F			WXS	Illumina GAIIx	Phase_I	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	4	38	---	---	---	---	A	40821536	T	A	40821536	3	1	75	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	26	4073										
C17orf95	124512	broad.mit.edu	37	chr17	74729679	74729679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	ttcctcttgagtcttttgatGcagacaaagaagatatagca	8	7	2	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.chr17:74729679G>A	ENST00000341249.6	+	5	816	c.484G>A	c.(484-486)Gca>Aca	p.A162T	METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|MFSD11_ENST00000586622.1_5'Flank|MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_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		Somatic				RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588822.1_Missense_Mutation_p.A95T|METTL23_ENST00000590964.1_Missense_Mutation_p.A95T|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000586752.1_Missense_Mutation_p.A95T|METTL23_ENST00000586200.1_Missense_Mutation_p.A43T|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR	p.A162T	NM_001206984.1	NP_001193913.1	WXS	Illumina GAIIx	Phase_I	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	54	119	---	---	---	---	A	74729679	G	A	74729679	3	1	75	1	0	0	0	0	1	0	0	0	1892	1319	46	2	498	2	C17orf95	17	74729679	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	33908143	74729679	6465531	27	4074										
ZNF324	25799	broad.mit.edu	37	chr19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	gacgcctgagcggcagaaacCatgtgcacaggaggtccctg	14	12	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.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF446_ENST00000596341.1_5'Flank|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		Somatic				ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L|ZNF324_ENST00000535298.1_5'UTR	p.P197L			WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	T	58982449	C	T	58982449	3	4	75	1	0	0	0	0	1	0	0	0	17841	594	21	2	600	2	ZNF324	19	58982449	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		58982449	146534	28	4075										
JPH2	57158	broad.mit.edu	37	chr20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	ctggttggcagccagggcggCctgttccgctgcctcagctt	14	14	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.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		Somatic					p.A404S	NM_020433.4	NP_065166.2	WXS	Illumina GAIIx	Phase_I	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	9	169	---	---	---	---	A	42747223	C	A	42747223	3	1	75	1	0	0	0	0	1	0	0	0	7961	739	26	3	892	3	JPH2	20	42747223	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		42747223	20278297	29	4076										
MCM3AP	8888	broad.mit.edu	37	chr21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-													0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	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)gacfs		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		Somatic				MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs	p.D792fs			WXS	Illumina GAIIx	Phase_I	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	75	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	30	4077										
MSN	4478	broad.mit.edu	37	chrX	64949442	64949442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	agtgaaagagggcattctcaAtgatgatatttactgcccgc	10	8	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.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		Somatic					p.N112T	NM_002444.2	NP_002435.1	WXS	Illumina GAIIx	Phase_I	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	17	14	---	---	---	---	C	64949442	A	C	64949442	3	2	75	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	31	4078										
ODZ1	10178	broad.mit.edu	37	chrX	123839059	123839059	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	4	0.968713181754189	2.00168776371308	0	2.14466546112116	0.0285714285714286	1	0	tagttctgactggctgcactGaagatcgcagaggaaccaga	12	9	1	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.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			Somatic				TENM1_ENST00000371130.3_Silent_p.F273F	p.F273F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					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	45	25	---	---	---	---	A	123839059	G	A	123839059	2	1	75	1	0	0	0	0	0	0	0	1	10834	1281	45	2		2	ODZ1	23	123839059	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	58889617	123839059	31431501	32	4079										
RSC1A1	6248	broad.mit.edu	37	chr1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	agacagaaaaattaacaggtActtcatctgacactggaaga	8	7	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.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		Somatic				DDI2_ENST00000480945.1_3'UTR	p.T432A	NM_006511.1	NP_006502.1	WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	G	15987657	A	G	15987657	3	3	76	1	0	0	0	0	1	0	0	0	13698	391	14	2	1296	2	RSC1A1	1	15987657	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		15987657	233262964	1	4080										
DMAP1	55929	broad.mit.edu	37	chr1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	ccgcaaggacggagcaatgtTcttccactggcgacgtgcag	13	12	1	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.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	63	---	---	---	---	G	44680509	T	G	44680509	3	3	76	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	4081										
KIDINS220	57498	broad.mit.edu	37	chr2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	gaaaaggtgccagtctccaaAattcatattcatctctttct	5	10	5	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.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	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		Somatic				KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	p.F1263V	NM_020738.2	NP_065789.1	WXS	Illumina GAIIx	Phase_I	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	19	26	---	---	---	---	C	8874814	A	C	8874814	3	2	76	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	3	4082										
CAPN13	92291	broad.mit.edu	37	chr2	30961160	30961160	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	gaacatgtcccctggaggtcCtgaggagagaaggacaggaa	15	8	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.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			Somatic				CAPN13_ENST00000534090.2_Splice_Site		NM_144575.2	NP_653176.2	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	T	30961160	C	T	30961160	5	4	76	1	0	0	0	0	0	0	1	0	2626	695	24	2	439	2	CAPN13	2	30961160	Splice_Site	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	22086346	30961160	212238213	4	4083										
SLC30A6	55676	broad.mit.edu	37	chr2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	tgatgacatttggcactatgTatcccatgagtgtgtacagt	10	7	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.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_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H	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		Somatic				SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H	p.Y244H	NM_017964.3	NP_060434.2	WXS	Illumina GAIIx	Phase_I	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	21	52	---	---	---	---	C	32429723	T	C	32429723	3	2	76	1	0	0	0	0	1	0	0	0	14559	1638	57	2	772	2	SLC30A6	2	32429723	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	1468563	32429723	210769650	5	4084										
CHST2	9435	broad.mit.edu	37	chr3	142840957	142840957	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	gacctggtgggagaccccgtCaagacactacggagagtgta	14	10	1	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.chr3:142840957C>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			Somatic					p.V433V	NM_004267.4	NP_004258.2	WXS	Illumina GAIIx	Phase_I	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	9	24	---	---	---	---	G	142840957	C	G	142840957	2	3	76	1	0	0	0	0	0	0	0	1	3404	813	29	4		4	CHST2	3	142840957	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08		142840957	55181473	6	4085										
HSPA4	3308	broad.mit.edu	37	chr5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	tggcattttcagtgtgtccaGtgcatctttagtggaggttc	12	7	2	0	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		Somatic					p.S494N	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	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	17	39	---	---	---	---	A	132426987	G	A	132426987	3	1	76	1	0	0	0	0	1	0	0	0	7412	1029	36	2	1527	2	HSPA4	5	132426987	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		132426987	48488273	7	4086										
ELOVL4	6785	broad.mit.edu	37	chr6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	tctgcttttttccattttctAtcatgagttgtttttctgat	5	7	4	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.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		Somatic					p.I300K	NM_022726.3	NP_073563.1	WXS	Illumina GAIIx	Phase_I	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	18	39	---	---	---	---	T	80626371	A	T	80626371	3	4	76	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	8	4087										
CREB3	57704	broad.mit.edu	37	chr9	35736505	35736506	+	IGR	DEL	TG	TG	-													0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	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				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000353704.2_Frame_Shift_Del_p.C300fs|CREB3_ENST00000486056.1_3'UTR	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)tgtfs		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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	76	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	9	4088										
ABCG4	64137	broad.mit.edu	37	chr11	119027721	119027721	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	gccccatgccctccttgtccTccggtgagtaggggtggaga	14	13	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.chr11:119027721T>C	ENST00000449422.2	+	9	1253	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000531739.1_Silent_p.P355P|ABCG4_ENST00000307417.3_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	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			Somatic				ABCG4_ENST00000449422.2_Silent_p.P355P|ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	p.P355P	NM_022169.4	NP_071452.2	WXS	Illumina GAIIx	Phase_I	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	3	107	---	---	---	---	C	119027721	T	C	119027721	2	2	76	1	0	0	0	0	0	0	0	1	70	1538	54	2		2	ABCG4	11	119027721	Silent	SNP	T	TCGA-EJ-7315-01A-31D-2114-08		119027721	15978795	10	4089										
NECAP1	25977	broad.mit.edu	37	chr12	8242592	8242592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	cgcctccgaatcacttcaaaAgggaagactgcctatatcaa	7	12	3	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.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			Somatic					p.K52K	NM_015509.3	NP_056324.2	WXS	Illumina GAIIx	Phase_I	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	3	124	---	---	---	---	G	8242592	A	G	8242592	2	3	76	1	0	0	0	0	0	0	0	1	10307	69	3	2		2	NECAP1	12	8242592	Silent	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		8242592	125609303	11	4090										
SALL1	6299	broad.mit.edu	37	chr16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	tggtaactgccgctgccaatAtgttcatattgggagaagag	12	7	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.chr16:51175105A>G	ENST00000251020.4	-	2	1061	c.1028T>C	c.(1027-1029)aTa>aCa	p.I343T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.I246T|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		Somatic				SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T	p.I246T	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	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	5	143	---	---	---	---	G	51175105	A	G	51175105	3	3	76	1	0	0	0	0	1	0	0	0	13810	449	16	2	2954	2	SALL1	16	51175105	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		51175105	39179648	12	4091										
GSDMB	55876	broad.mit.edu	37	chr17	38073351	38073351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	tgaccttggagcccagaatcCagttcatctaaccacttgtc	7	13	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.chr17:38073351C>T	ENST00000394179.1	-	2	349	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394175.2_Silent_p.L73L|GSDMB_ENST00000418519.1_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			Somatic				GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L	p.L73L	NM_018530.2	NP_061000.2	WXS	Illumina GAIIx	Phase_I	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	7	91	---	---	---	---	T	38073351	C	T	38073351	2	4	76	1	0	0	0	0	0	0	0	1	6817	581	21	2		2	GSDMB	17	38073351	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08		38073351	43121859	13	4092										
STAT3	6774	broad.mit.edu	37	chr17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	gtgtttgtgcccagaatgttAaatttccgggatctgaatca	10	7	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.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_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		Somatic				STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L	p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	C	40481653	A	C	40481653	3	2	76	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	14	4093										
SMAD4	4089	broad.mit.edu	37	chr18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	ctattgttactgttgatggaTacgtggacccttctggagga	12	7	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.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		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N	p.Y353N	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	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	25	42	---	---	---	---	A	48591894	T	A	48591894	3	1	76	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	15	4094										
TTLL12	23170	broad.mit.edu	37	chr22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G													0.0625	1	1	1.41145833333333	5.64583333333333	0	1	1	0	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)cccaacfs		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		Somatic					p.N115fs	NM_015140.3	NP_055955.1	WXS	Illumina GAIIx	Phase_I	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	76	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		43578990	7725576	16	4095										
KIAA0467	23334	broad.mit.edu	37	chr1	43912679	43912679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gtgcgggacctgatgcacgtGcactcgttcagctatgactt	12	11	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.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			Somatic				SZT2_ENST00000372442.1_Silent_p.V2143V	p.V2985V	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	A	43912679	G	A	43912679	2	1	77	1	0	0	0	0	0	0	0	1	8178	1306	46	2		2	KIAA0467	1	43912679	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		43912679	205337942	1	4096										
IPO13	9670	broad.mit.edu	37	chr1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ggaccagcctggcggtggaaTgtggggctgtcttcccgctg	17	11	1	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.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		Somatic					p.C198G	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	G	44415596	T	G	44415596	3	3	77	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	4097										
ATP6V0B	533	broad.mit.edu	37	chr1	44442867	44442867	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	agcgccattggcctctttggGgtcatcgtcgcaattcttca	10	12	4	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.chr1:44442867G>C	ENST00000472174.2	+	7	963	c.570G>C	c.(568-570)ggG>ggC	p.G190G	B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000236067.4_Silent_p.G143G|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000532642.1_Silent_p.G190G|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000356836.6_5'Flank	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			Somatic				ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_Silent_p.G143G	p.G190G			WXS	Illumina GAIIx	Phase_I	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	26	82	---	---	---	---	C	44442867	G	C	44442867	2	2	77	1	0	0	0	0	0	0	0	1	1171	1219	43	4		4	ATP6V0B	1	44442867	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	27271	44442867	204807754	3	4098										
CCDC88A	55704	broad.mit.edu	37	chr2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	atctgccagttccaccgacaGatgttgtcgactttctgttc	8	12	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.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_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		Somatic				CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V	p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina GAIIx	Phase_I	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	34	53	---	---	---	---	C	55582770	G	C	55582770	3	2	77	1	0	0	0	0	1	0	0	0	2863	933	33	4	4970	4	CCDC88A	2	55582770	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		55582770	187616603	4	4099										
SEMA4C	54910	broad.mit.edu	37	chr2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ctgccagttcggggcagagcAtgccagccgcgccttcagga	14	14	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.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		Somatic					p.C285R	NM_017789.4	NP_060259.4	WXS	Illumina GAIIx	Phase_I	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	4	61	---	---	---	---	G	97530551	A	G	97530551	3	3	77	1	0	0	0	0	1	0	0	0	14033	217	8	2	1676	2	SEMA4C	2	97530551	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	41947781	97530551	145668822	5	4100										
FKBP7	65977	broad.mit.edu	37	chr2	179343217	179343217	+	5'Flank	DEL	T	T	-													0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	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_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	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)accfs		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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	77	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	6	4101										
CCBP2	1238	broad.mit.edu	37	chr3	42906720	42906720	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gtcttggtgaggctgaggccCgcaggccagggccgggcttt	18	11	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.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P	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			Somatic				RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron	p.P242P	NM_001296.4	NP_001287.2	WXS	Illumina GAIIx	Phase_I					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	4	167	---	---	---	---	A	42906720	C	A	42906720	2	1	77	1	0	0	0	0	0	0	0	1	2734	639	23	1		1	CCBP2	3	42906720	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		42906720	155115710	7	4102										
CRYBG3	131544	broad.mit.edu	37	chr3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	agaaaaagggaaatacaaatGcttttttgactggggaggat	12	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.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		Somatic					p.C690S	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					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	25	50	---	---	---	---	C	97618049	G	C	97618049	3	2	77	1	0	0	0	0	1	0	0	0	3913	1319	46	4	2111	4	CRYBG3	3	97618049	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	54711329	97618049	100404381	8	4103										
KIAA1257	57501	broad.mit.edu	37	chr3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-													0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	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_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|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)gaafs		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		Somatic				KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR	p.E236fs	NM_020741.2	NP_065792.1	WXS	Illumina GAIIx	Phase_I	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	77	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	9	4104										
SPATA16	83893	broad.mit.edu	37	chr3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tggacattttcttgcttgtgTttatctttggaacaagctga	9	6	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.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		Somatic					p.N26S	NM_031955.5	NP_114161.3	WXS	Illumina GAIIx	Phase_I	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	7	198	---	---	---	---	C	172835445	T	C	172835445	3	2	77	1	0	0	0	0	1	0	0	0	15000	1725	60	2	1672	2	SPATA16	3	172835445	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	44138457	172835445	25186985	10	4105										
FRYL	285527	broad.mit.edu	37	chr4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tgctccatcactttcagtcgCcaattagaataaagtggcat	7	10	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.chr4:48551612C>T	ENST00000503238.1	-	36	4661	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_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																																						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.(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*		Somatic				FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*	p.W1554*			WXS	Illumina GAIIx	Phase_I	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	28	53	---	---	---	---	T	48551612	C	T	48551612	4	4	77	1	0	0	0	0	0	1	0	0	6064	740	26	2	4483	2	FRYL	4	48551612	Nonsense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		48551612	142602664	11	4106										
UGT2B7	7364	broad.mit.edu	37	chr4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ttcatccaatcctaggtcatCcaaagaccagagcttttata	5	11	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.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		Somatic				UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	p.P366T	NM_001074.2	NP_001065.2	WXS	Illumina GAIIx	Phase_I	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	23	82	---	---	---	---	A	69973826	C	A	69973826	3	1	77	1	0	0	0	0	1	0	0	0	16959	855	30	3	1114	3	UGT2B7	4	69973826	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	21422214	69973826	121180450	12	4107										
CENPE	1062	broad.mit.edu	37	chr4	104041395	104041395	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tttgctattatgtcattagtCacctcaagttctttctgcat	5	9	5	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.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			Somatic				CENPE_ENST00000380026.3_Silent_p.V2292V	p.V2413V	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	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	5	18	---	---	---	---	T	104041395	C	T	104041395	2	4	77	1	0	0	0	0	0	0	0	1	3230	813	29	2		2	CENPE	4	104041395	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	34067569	104041395	87112881	13	4108										
ENPEP	2028	broad.mit.edu	37	chr4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ctccagcggggacggcgggcCgggcactgcgccagctcctt	16	16	0	0	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		Somatic					p.P51L	NM_001977.3	NP_001968.3	WXS	Illumina GAIIx	Phase_I	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	4	149	---	---	---	---	T	111397722	C	T	111397722	3	4	77	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	14	4109										
DNAH5	1767	broad.mit.edu	37	chr5	13735947	13735947	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ctggctaaggaaaggtcaaaTaagcccagaaactggcgaag	12	8	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.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			Somatic					p.L3850L	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	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	6	142	---	---	---	---	C	13735947	T	C	13735947	2	2	77	1	0	0	0	0	0	0	0	1	4604	1403	49	2		2	DNAH5	5	13735947	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		13735947	167179313	15	4110										
CCNB1	891	broad.mit.edu	37	chr5	68470883	68470883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	attctaagagctttaaacttTggtctgggtcggcctctacc	9	10	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.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			Somatic					p.F295F	NM_031966.3	NP_114172.1	WXS	Illumina GAIIx	Phase_I	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	6	127	---	---	---	---	C	68470883	T	C	68470883	2	2	77	1	0	0	0	0	0	0	0	1	2911	1809	63	2		2	CCNB1	5	68470883	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	54734936	68470883	112444377	16	4111										
KIF20A	10112	broad.mit.edu	37	chr5	137520549	137520549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ctgcttttgaaggaacgacaGgaaaagctacagctggagat	12	7	0	2	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			Somatic				KIF20A_ENST00000508792.1_Silent_p.Q561Q	p.Q579Q	NM_005733.2	NP_005724.1	WXS	Illumina GAIIx	Phase_I	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	33	88	---	---	---	---	A	137520549	G	A	137520549	2	1	77	1	0	0	0	0	0	0	0	1	8286	991	35	2		2	KIF20A	5	137520549	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	69049666	137520549	43394711	17	4112										
PCDHB10	56126	broad.mit.edu	37	chr5	140572701	140572701	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gatgaaggcatgatatatccAgagctagtgttggacaaagc	12	6	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.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	56126				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			Somatic					p.P192P	NM_018930.3	NP_061753.1	WXS	Illumina GAIIx	Phase_I	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	79	174	---	---	---	---	G	140572701	A	G	140572701	2	3	77	1	0	0	0	0	0	0	0	1	11535	175	7	2		2	PCDHB10	5	140572701	Silent	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	3052152	140572701	40342559	18	4113										
CDHR2	54825	broad.mit.edu	37	chr5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gggtcctttcctggaagccaCcaccaccctgaatgtgagtg	11	13	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.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		Somatic				CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	p.T1035N	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	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	6	111	---	---	---	---	A	176016426	C	A	176016426	3	1	77	1	0	0	0	0	1	0	0	0	3119	507	18	3	3190	3	CDHR2	5	176016426	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	35443725	176016426	4898834	19	4114										
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ctccttcgtcaatgacatctTcgagcgcatcgccggcgagg	11	14	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.chr6:27806651T>G	ENST00000396980.3	+	1	212	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.F71C|HIST1H2AK_ENST00000330180.2_5'Flank	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		Somatic				HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C	p.F71C			WXS	Illumina GAIIx	Phase_I	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	81	168	---	---	---	---	G	27806651	T	G	27806651	3	3	77	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	20	4115										
ZC3H12D	340152	broad.mit.edu	37	chr6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ggcttcggcttcctgctcagGaagttgctcagggagggtcc	15	11	2	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.chr6:149773804G>T	ENST00000409806.3	-	5	1053	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_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		Somatic				ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L	p.F245L			WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	T	149773804	G	T	149773804	3	4	77	1	0	0	0	0	1	0	0	0	17561	1165	41	3	856	3	ZC3H12D	6	149773804	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	121967153	149773804	21341263	21	4116										
TMEM139	135932	broad.mit.edu	37	chr7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	agagttggaccaaccaccccCctacagcactgttgtgatac	8	14	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.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR	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		Somatic				AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L	p.P113L	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	WXS	Illumina GAIIx	Phase_I	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	50	100	---	---	---	---	T	142983609	C	T	142983609	3	4	77	1	0	0	0	0	1	0	0	0	16051	623	22	2	344	2	TMEM139	7	142983609	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		142983609	16155054	22	4117										
GIMAP1	170575	broad.mit.edu	37	chr7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gacagatcctggctgtgaggAgagaggtcactgctacctgc	14	10	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.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		Somatic					p.E100A	NM_130759.3	NP_570115.1	WXS	Illumina GAIIx	Phase_I			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	8	70	---	---	---	---	C	150417391	A	C	150417391	3	2	77	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	23	4118										
PDGFRL	5157	broad.mit.edu	37	chr8	17447026	17447026	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	cgtccaaaagaaccaggagaGaatagaatcaaacctaccaa	7	10	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.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			Somatic				PDGFRL_ENST00000398074.3_Silent_p.E35E|PDGFRL_ENST00000251630.6_Silent_p.E35E	p.E35E	NM_006207.2	NP_006198.1	WXS	Illumina GAIIx	Phase_I	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	16	161	---	---	---	---	A	17447026	G	A	17447026	2	1	77	1	0	0	0	0	0	0	0	1	11663	933	33	2		2	PDGFRL	8	17447026	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		17447026	128916996	24	4119										
PRDM14	63978	broad.mit.edu	37	chr8	70978696	70978696	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gacatccagttccccgtaccTccttttccatctataaagtg	5	14	1	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.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			Somatic					p.G319G	NM_024504.3	NP_078780.1	WXS	Illumina GAIIx	Phase_I	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	3	181	---	---	---	---	C	70978696	T	C	70978696	2	2	77	1	0	0	0	0	0	0	0	1	12455	1538	54	2		2	PRDM14	8	70978696	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	53531670	70978696	75385326	25	4120										
CSMD3	114788	broad.mit.edu	37	chr8	113249577	113249577	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gggcaaatacatcatcaggaActgtgaatagattaaatata	8	5	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.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_ENST00000352409.3_Splice_Site_p.V3420A|CSMD3_ENST00000343508.3_Splice_Site_p.V3450A	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.(10468-10470)gTt>gCt		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)	Somatic				CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	p.V3490A	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			67	10713	-			3490					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10469T>C	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	5	43	---	---	---	---	G	113249577	A	G	113249577	5	3	77	1	0	0	0	0	0	0	1	0	3946	57	2	2	674	2	CSMD3	8	113249577	Splice_Site	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	42270881	113249577	33114445	26	4121										
TOPORS	10210	broad.mit.edu	37	chr9	32543932	32543932	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gttgttcttctgttcacaggAccactaggtgaatacacaga	9	9	3	2	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			Somatic				TOPORS_ENST00000379858.1_Silent_p.G132G	p.G197G	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	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	7	58	---	---	---	---	C	32543932	A	C	32543932	2	2	77	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	27	4122										
PCDH15	65217	broad.mit.edu	37	chr10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gcactgctggtttagccgcgGgtaatgcggcctgaattcgt	14	10	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.chr10:55587261G>T	ENST00000320301.6	-	32	4653	c.4259C>A	c.(4258-4260)cCc>cAc	p.P1420H	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1427H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H	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)	Somatic				PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H	p.P1427H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	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	28	85	---	---	---	---	T	55587261	G	T	55587261	3	4	77	1	0	0	0	0	1	0	0	0	11511	1232	43	1	3235	1	PCDH15	10	55587261	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		55587261	79947486	28	4123										
C10orf79	80217	broad.mit.edu	37	chr10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gatgagaattgcatcagaatActccagtactagctggaaat	9	7	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.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H|WDR96_ENST00000479392.1_5'UTR	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		Somatic				WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	p.Y1458H	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	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	12	29	---	---	---	---	G	105900659	A	G	105900659	3	3	77	1	0	0	0	0	1	0	0	0	1618	391	14	2	645	2	C10orf79	10	105900659	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	50313398	105900659	29634088	29	4124										
ACCS	84680	broad.mit.edu	37	chr11	44100335	44100335	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tacctggtatttgccaagagGtgaggcaccccacactggcc	11	13	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.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			Somatic						NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	WXS	Illumina GAIIx	Phase_I	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	11	27	---	---	---	---	T	44100335	G	T	44100335	5	4	77	1	0	0	0	0	0	0	1	0	133	1275	44	3	864	3	ACCS	11	44100335	Splice_Site	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		44100335	90906181	30	4125										
KRT78	196374	broad.mit.edu	37	chr12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ccccccaggtcccaccacctTggtctggtacaaggcctcag	9	18	2	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.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		Somatic				KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q	p.K197Q			WXS	Illumina GAIIx	Phase_I	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	35	111	---	---	---	---	G	53238345	T	G	53238345	3	3	77	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	31	4126										
GIT2	9815	broad.mit.edu	37	chr12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	cgctttcgtccctcgaccagGaaagtgtggaggggaaggaa	15	9	0	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.chr12:110383093G>T	ENST00000355312.3	-	16	1702	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S518Y|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000457474.2_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y	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		Somatic				GIT2_ENST00000457474.2_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y	p.S518Y	NM_014776.3	NP_055591.2	WXS	Illumina GAIIx	Phase_I	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	14	25	---	---	---	---	T	110383093	G	T	110383093	3	4	77	1	0	0	0	0	1	0	0	0	6397	1174	41	3	596	3	GIT2	12	110383093	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	57144748	110383093	23468802	32	4127										
SEPHS2	22928	broad.mit.edu	37	chr16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	aattattggcagattatgaaTaacaaaggacacttcatttc	6	6	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.chr16:30456028T>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		Somatic				SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V	p.I341V			WXS	Illumina GAIIx	Phase_I	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	4	64	---	---	---	---	C	30456028	T	C	30456028	3	2	77	1	0	0	0	0	1	0	0	0	14055	1406	49	2	329	2	SEPHS2	16	30456028	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		30456028	59898725	33	4128										
ITGAL	3683	broad.mit.edu	37	chr16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tcagacctcctggaggacaaCtcagccactaccatcatccc	6	17	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.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	3683				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		Somatic				ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K	p.N911K	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	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	18	163	---	---	---	---	G	30522404	C	G	30522404	3	3	77	1	0	0	0	0	1	0	0	0	7886	564	20	4	2827	4	ITGAL	16	30522404	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	66376	30522404	59832349	34	4129										
ZNF773	374928	broad.mit.edu	37	chr19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	tcacacgggagagaagtcacAtaggagctccaaaagtaggg	13	8	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.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R	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		Somatic				ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	p.H175R	NM_198542.1	NP_940944.1	WXS	Illumina GAIIx	Phase_I	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	7	16	---	---	---	---	G	58017987	A	G	58017987	3	3	77	1	0	0	0	0	1	0	0	0	18143	217	8	2	538	2	ZNF773	19	58017987	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		58017987	1110996	35	4130										
WISP2	8839	broad.mit.edu	37	chr20	43355879	43355879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ttctgccgactggagacccaGcgccgcctgtgcctgtccag	12	16	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.chr20:43355879G>A	ENST00000372868.2	+	5	1027	c.684G>A	c.(682-684)caG>caA	p.Q228Q	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Missense_Mutation_p.S146N|WISP2_ENST00000190983.4_Silent_p.Q228Q			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			Somatic				RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q	p.S146N			WXS	Illumina GAIIx	Phase_I	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	16	27	---	---	---	---	A	43355879	G	A	43355879	2	1	77	1	0	0	0	0	0	0	0	1	17370	962	34	2		2	WISP2	20	43355879	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		43355879	19669641	36	4131										
ZNF217	7764	broad.mit.edu	37	chr20	52198352	52198352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	gagaggcctgcacaactgccCttatttgtttctccaagctc	8	13	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.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			Somatic				ZNF217_ENST00000302342.3_Silent_p.K338K	p.K338K			WXS	Illumina GAIIx	Phase_I	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	14	112	---	---	---	---	T	52198352	C	T	52198352	2	4	77	1	0	0	0	0	0	0	0	1	17769	680	24	2		2	ZNF217	20	52198352	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	8842473	52198352	10827168	37	4132										
BCR	613	broad.mit.edu	37	chr22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	ccagccctaccagagcatctAcgtcgggggcatgatggaag	13	12	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.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000398512.5_Missense_Mutation_p.Y283C|BCR_ENST00000359540.3_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		Somatic				BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	p.Y283C	NM_004327.3	NP_004318.3	WXS	Illumina GAIIx	Phase_I	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	8	36	---	---	---	---	G	23523995	A	G	23523995	3	3	77	1	0	0	0	0	1	0	0	0	1388	391	14	2	850	2	BCR	22	23523995	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		23523995	27780571	38	4133										
KDM6A	7403	broad.mit.edu	37	chrX	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-													0.0769230769230769	3	1	1.84615384615385	2	1.77777777777778	1	1	0	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_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs	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)aaafs		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		Somatic				KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000479423.1_3'UTR	p.K1379fs	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	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	77	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	39	4134										
MECR	51102	broad.mit.edu	37	chr1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ctaactgccgcagcagctctGtggagcttttcccaccaaca	8	15	1	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.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		Somatic				MECR_ENST00000263702.6_Missense_Mutation_p.T270I	p.T194I	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	WXS	Illumina GAIIx	Phase_I	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	4	26	---	---	---	---	A	29527049	G	A	29527049	3	1	78	1	0	0	0	0	1	0	0	0	9424	1377	48	2	328	2	MECR	1	29527049	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		29527049	219723572	1	4135										
PHC2	1912	broad.mit.edu	37	chr1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gagatgcccaccttgcagatAgggctcctccatctccgagt	10	14	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_ENST00000373416.1_Missense_Mutation_p.Y92D|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D	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		Somatic				PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000485928.1_5'UTR	p.Y627D	NM_198040.2	NP_932157.1	WXS	Illumina GAIIx	Phase_I	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	4	95	---	---	---	---	C	33797885	A	C	33797885	3	2	78	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	4136										
SLC8A1	6546	broad.mit.edu	37	chr2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-													0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	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-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_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																																						ENST00000406785.2																			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)ggcfs		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		Somatic				SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA	p.G936fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			8	2996	-								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	78	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	3	4137										
LRRTM1	347730	broad.mit.edu	37	chr2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gggagatgaggcgcgggaagTgggcgaagttcaccttgacc	18	8	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.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_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)	Somatic				CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron	p.H228R	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	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	39	76	---	---	---	---	C	80530262	T	C	80530262	3	2	78	1	0	0	0	0	1	0	0	0	9039	1696	59	2	889	2	LRRTM1	2	80530262	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08	40187862	80530262	162669111	4	4138										
SPHKAP	80309	broad.mit.edu	37	chr2	228883536	228883536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	tggtgaacttcatcaatggaAtgcctcaggataacattgga	10	7	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.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			Somatic				SPHKAP_ENST00000344657.5_Silent_p.H678H	p.H678H	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	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	103	173	---	---	---	---	G	228883536	A	G	228883536	2	3	78	1	0	0	0	0	0	0	0	1	15047	98	4	2		2	SPHKAP	2	228883536	Silent	SNP	A	TCGA-EJ-7318-01B-11D-A32B-08	148353274	228883536	14315837	5	4139										
EPHA3	2042	broad.mit.edu	37	chr3	89468541	89468541	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ggaaggagttgttaccaaaaGtaagtaaagtagtcataaga	11	3	1	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.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)	Somatic				EPHA3_ENST00000494014.1_Splice_Site		NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	22	48	---	---	---	---	T	89468541	G	T	89468541	5	4	78	1	0	0	0	0	0	0	1	0	5168	1043	36	3	2143	3	EPHA3	3	89468541	Splice_Site	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		89468541	108553889	6	4140										
PPP2R3A	5523	broad.mit.edu	37	chr3	135722332	135722332	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	cagcagactccagaggtgatCaaggtaagacccaacaattt	9	10	1	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.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			Somatic				PPP2R3A_ENST00000490467.1_Intron	p.I664I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	WXS	Illumina GAIIx	Phase_I	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	18	66	---	---	---	---	T	135722332	C	T	135722332	2	4	78	1	0	0	0	0	0	0	0	1	12388	816	29	2		2	PPP2R3A	3	135722332	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	46253791	135722332	62300098	7	4141										
FGFBP2	83888	broad.mit.edu	37	chr4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gaattcctccccagtgcttcCttgcttttgcctcggggcct	9	15	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.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		Somatic				FGFBP2_ENST00000509331.1_Intron	p.G27R	NM_031950.3	NP_114156.1	WXS	Illumina GAIIx	Phase_I	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	12	36	---	---	---	---	T	15964674	C	T	15964674	3	4	78	1	0	0	0	0	1	0	0	0	5861	690	24	2	596	2	FGFBP2	4	15964674	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		15964674	175189602	8	4142										
KIAA1211	57482	broad.mit.edu	37	chr4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ccgaggagccaggtatttgcGaggagcagaacccagaggcc	15	11	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.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K			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		Somatic				KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K	p.E452K			WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	A	57181022	G	A	57181022	3	1	78	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	9	4143										
PCDHB8	56128	broad.mit.edu	37	chr5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ctcctacaccctgttcgtccGcgagaacaacagccccgccc	7	20	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.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	56128				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		Somatic					p.R462H	NM_019120.3	NP_061993.2	WXS	Illumina GAIIx	Phase_I	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	21	325	---	---	---	---	A	140559000	G	A	140559000	3	1	78	1	0	0	0	0	1	0	0	0	11548	1087	38	2	1387	2	PCDHB8	5	140559000	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		140559000	40356260	10	4144										
GRIA1	2890	broad.mit.edu	37	chr5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	cgagcaggggcttttggacaAattgaaaaacaaatggtggt	13	5	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.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_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000448073.4_Intron	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	2890				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		Somatic				GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000448073.4_Intron	p.K775I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	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	5	51	---	---	---	---	T	153174234	A	T	153174234	3	4	78	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	11	4145										
GIGYF1	64599	broad.mit.edu	37	chr7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	accctgagtcgaagagttaaTtggtatgtcccaaagactgg	11	8	0	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		Somatic					p.I667V	NM_022574.4	NP_072096.2	WXS	Illumina GAIIx	Phase_I	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	10	140	---	---	---	---	C	100281226	T	C	100281226	3	2	78	1	0	0	0	0	1	0	0	0	6377	1493	52	2	1140	2	GIGYF1	7	100281226	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08		100281226	58857437	12	4146										
GRIN3A	116443	broad.mit.edu	37	chr9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ctgtggctacagctcttgcgAccagctccatagcatcttgt	9	13	2	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.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		Somatic					p.V396G	NM_133445.2	NP_597702.2	WXS	Illumina GAIIx	Phase_I	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	4	80	---	---	---	---	C	104448995	A	C	104448995	3	2	78	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	13	4147										
NUP188	23511	broad.mit.edu	37	chr9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gctgtttgtatcttagacacCtagtgcctctcggaagtccc	9	12	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.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		Somatic					p.P1381L	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	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	12	45	---	---	---	---	T	131765100	C	T	131765100	3	4	78	1	0	0	0	0	1	0	0	0	10758	681	24	2	4288	2	NUP188	9	131765100	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	27316105	131765100	9448331	14	4148										
ITGA8	8516	broad.mit.edu	37	chr10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	tcaggactgcgctttctcctCcttcgagtcgtcccactgca	8	16	2	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.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		Somatic					p.G941A	NM_003638.1	NP_003629	WXS	Illumina GAIIx	Phase_I	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	7	45	---	---	---	---	G	15590512	C	G	15590512	3	3	78	1	0	0	0	0	1	0	0	0	7882	855	30	4	385	4	ITGA8	10	15590512	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		15590512	119944235	15	4149										
ST8SIA6	338596	broad.mit.edu	37	chr10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gctgtattctttgggcatctGatggaaaccatgtttaggta	11	6	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.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		Somatic					p.Q371K	NM_001004470.1	NP_001004470.1	WXS	Illumina GAIIx	Phase_I	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	10	255	---	---	---	---	T	17362963	G	T	17362963	3	4	78	1	0	0	0	0	1	0	0	0	15235	1299	45	3	89	3	ST8SIA6	10	17362963	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	1772451	17362963	118171784	16	4150										
MYST4	23522	broad.mit.edu	37	chr10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ataatatgcttttttgtgatTcctgtgatagaggatttcat	8	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.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_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_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		Somatic				KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P	p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina GAIIx	Phase_I	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	6	43	---	---	---	---	C	76729799	T	C	76729799	3	2	78	1	0	0	0	0	1	0	0	0	10105	1783	62	2	882	2	MYST4	10	76729799	Missense_Mutation	SNP	T	TCGA-EJ-7318-01B-11D-A32B-08	59366836	76729799	58804948	17	4151										
MUC5B	727897	broad.mit.edu	37	chr11	1271277	1271277	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	tcctccactccggggacgacCtggatcctcacagagctgac	10	16	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.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			Somatic				MUC5B_ENST00000529681.1_Silent_p.T4389T	p.T4392T			WXS	Illumina GAIIx	Phase_I	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	4	102	---	---	---	---	G	1271277	C	G	1271277	2	3	78	1	0	0	0	0	0	0	0	1	9979	668	24	4		4	MUC5B	11	1271277	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		1271277	133735239	18	4152										
OR5D18	219438	broad.mit.edu	37	chr11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	acatgtcccagaaactctgcGtgctgctggttgtgggatcc	12	11	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		Somatic					p.V143M	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	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	32	124	---	---	---	---	A	55587532	G	A	55587532	3	1	78	1	0	0	0	0	1	0	0	0	11157	1145	40	2	429	2	OR5D18	11	55587532	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08	54316255	55587532	79418984	19	4153										
ADAMTS20	80070	broad.mit.edu	37	chr12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	acactgtattacgctaggtgGcttgtttacaatttcacagt	8	8	1	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.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T	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		Somatic				ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	p.P1404T	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	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	6	21	---	---	---	---	T	43819391	G	T	43819391	3	4	78	1	0	0	0	0	1	0	0	0	266	1203	42	3	1569	3	ADAMTS20	12	43819391	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		43819391	90032504	20	4154										
SHISA2	387914	broad.mit.edu	37	chr13	26620948	26620948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gtctgtgaccttgttgggggCgcccgggcccctgagttggc	17	12	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.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			Somatic					p.A197A	NM_001007538.1	NP_001007539.1	WXS	Illumina GAIIx	Phase_I	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	7	105	---	---	---	---	T	26620948	C	T	26620948	2	4	78	1	0	0	0	0	0	0	0	1	14280	755	27	2		2	SHISA2	13	26620948	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		26620948	88548930	21	4155										
NUFIP1	26747	broad.mit.edu	37	chr13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gcttaccagaatcactgtttAtcaaaacaccaagaggatct	6	10	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.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		Somatic					p.I336R	NM_012345.2	NP_036477.2	WXS	Illumina GAIIx	Phase_I	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	35	66	---	---	---	---	C	45533530	A	C	45533530	3	2	78	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	22	4156										
SOCS4	122809	broad.mit.edu	37	chr14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	agatgctgagacagtgaatgGtatagagaaaaccgaagtgt	13	4	0	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.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	23	68	---	---	---	---	T	55509920	G	T	55509920	3	4	78	1	0	0	0	0	1	0	0	0	14916	1261	44	3	163	3	SOCS4	14	55509920	Missense_Mutation	SNP	G	TCGA-EJ-7318-01B-11D-A32B-08		55509920	51839620	23	4157										
TIMM13	26517	broad.mit.edu	37	chr19	2427323	2427323	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	aaacacttgtccgtcatcctCtgtggagacacgcgaggctt	10	12	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.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		TIMM13_ENST00000591871.1_Splice_Site|LMNB2_ENST00000475819.1_5'Flank	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			Somatic				TIMM13_ENST00000591871.1_Splice_Site		NM_012458.2	NP_036590.1	WXS	Illumina GAIIx	Phase_I	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	12	149	---	---	---	---	A	2427323	C	A	2427323	5	1	78	1	0	0	0	0	0	0	1	0	15903	927	32	3	175	3	TIMM13	19	2427323	Splice_Site	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		2427323	56701660	24	4158										
COL5A3	50509	broad.mit.edu	37	chr19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	gggtggagagtcatttacctTctccccagctgagcctgggg	14	11	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.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*		Somatic					p.K784*	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	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	9	24	---	---	---	---	A	10096993	T	A	10096993	4	1	78	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	7669670	10096993	49031990	25	4159										
ICAM4	3386	broad.mit.edu	37	chr19	10398384	10398384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	ttcaccggcctggatctggcCaacgtgaccttgacctacga	10	14	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.chr19:10398384C>T	ENST00000380770.3	+	2	613	c.567C>T	c.(565-567)gcC>gcT	p.A189A	ICAM4_ENST00000340992.4_Nonsense_Mutation_p.Q164*|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.A189A|ICAM5_ENST00000221980.4_5'Flank|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			Somatic				CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.A189A|ICAM4_ENST00000393717.2_Silent_p.A189A	p.Q164*	NM_001039132.2	NP_001034221.1	WXS	Illumina GAIIx	Phase_I	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	4	52	---	---	---	---	T	10398384	C	T	10398384	2	4	78	1	0	0	0	0	0	0	0	1	7482	595	21	2		2	ICAM4	19	10398384	Silent	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08	301391	10398384	48730599	26	4160										
PCDH19	57526	broad.mit.edu	37	chrX	99662943	99662943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.667857142857143	0	0.801428571428571	1	1	0	taaggccaacggtgcccaggCgcggcgggtcgccaccgtct	15	15	1	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.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		Somatic				PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	p.R218H	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	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	24	39	---	---	---	---	T	99662943	C	T	99662943	3	4	78	1	0	0	0	0	1	0	0	0	11514	768	27	2	2817	2	PCDH19	23	99662943	Missense_Mutation	SNP	C	TCGA-EJ-7318-01B-11D-A32B-08		99662943	55607617	27	4161										
LDLRAD1	388633	broad.mit.edu	37	chr1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	aggttgaaggacagcgccacCacccagggccgcagggtggg	17	12	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.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|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		Somatic				LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L	p.W167L	NM_001010978.2	NP_001010978.2	WXS	Illumina GAIIx	Phase_I	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	3	158	---	---	---	---	A	54474773	C	A	54474773	3	1	79	1	0	0	0	0	1	0	0	0	8705	595	21	1	121	1	LDLRAD1	1	54474773	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		54474773	194775848	1	4162										
LEPR	3953	broad.mit.edu	37	chr1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	caattcaattggtgcttctgTtgcaaattttaatttaacct	5	7	2	0	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_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A	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		Somatic				LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000344610.8_Missense_Mutation_p.V724A	p.V724A	NM_002303.5	NP_002294.2	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	C	66081866	T	C	66081866	3	2	79	1	0	0	0	0	1	0	0	0	8728	1725	60	2	2221	2	LEPR	1	66081866	Missense_Mutation	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	11607093	66081866	183168755	2	4163										
LRRC8C	84230	broad.mit.edu	37	chr1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	agccctccactggtatgccaAgtatttcccttaccttgtcc	6	15	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.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		Somatic				LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.K125T	NM_032270.4	NP_115646	WXS	Illumina GAIIx	Phase_I	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	3	159	---	---	---	---	C	90178503	A	C	90178503	3	2	79	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	4164										
ALX3	257	broad.mit.edu	37	chr1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tccttgcagtgccctcacctGtacccgggcctcagtcaggt	10	16	3	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.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*		Somatic					p.Q198*	NM_006492.2	NP_006483.2	WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	A	110607211	G	A	110607211	4	1	79	1	0	0	0	0	0	1	0	0	557	1386	48	2	451	2	ALX3	1	110607211	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	20428708	110607211	138643410	4	4165										
LTBP1	4052	broad.mit.edu	37	chr2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	ctgttgaagtagctcctgaaGcttctacgtctagtgccagc	10	11	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.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_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|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		Somatic				LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T	p.A857T			WXS	Illumina GAIIx	Phase_I	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	13	89	---	---	---	---	A	33488411	G	A	33488411	3	1	79	1	0	0	0	0	1	0	0	0	9073	971	34	2	2682	2	LTBP1	2	33488411	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		33488411	209710962	5	4166										
ATL2	64225	broad.mit.edu	37	chr2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tgttgtttctctttcacagcCacctcgccatgtaaagcctg	7	13	2	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.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000402054.1_5'UTR	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		Somatic				ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000402054.1_5'UTR	p.G142S	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	WXS	Illumina GAIIx	Phase_I	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	24	240	---	---	---	---	T	38546101	C	T	38546101	3	4	79	1	0	0	0	0	1	0	0	0	1107	594	21	2	1483	2	ATL2	2	38546101	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	5057690	38546101	204653272	6	4167										
XIRP2	129446	broad.mit.edu	37	chr2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tgatgaccagcagtgaacacAcggagacaaagcagaacgtt	11	9	0	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.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S	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		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S	p.T2475S	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	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	5	47	---	---	---	---	T	168105325	A	T	168105325	3	4	79	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	129559224	168105325	75094048	7	4168										
FBXL2	25827	broad.mit.edu	37	chr3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	gacctcctgtgtgtctattaCaaacagctccttgaagggga	10	10	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.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K	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		Somatic				FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000542085.1_5'UTR	p.T144K	NM_012157.3	NP_036289.3	WXS	Illumina GAIIx	Phase_I	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	17	243	---	---	---	---	A	33414823	C	A	33414823	3	1	79	1	0	0	0	0	1	0	0	0	5716	478	17	3	457	3	FBXL2	3	33414823	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33414823	164607607	8	4169										
SMARCA5	8467	broad.mit.edu	37	chr4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	agaatgggatgtatgtgtaaCatcttatgaaatgcttatta	9	3	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.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		Somatic					p.T285I	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	T	144449073	C	T	144449073	3	4	79	1	0	0	0	0	1	0	0	0	14771	478	17	2	880	2	SMARCA5	4	144449073	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		144449073	46705203	9	4170										
DCHS2	54798	broad.mit.edu	37	chr4	155253865	155253865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	ttttgcaagaatccgtcctcGgggatccaagcaaacactct	8	12	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.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																																						ENST00000357232.4																			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			Somatic				DCHS2_ENST00000339452.1_Silent_p.P1165P	p.P666P	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1997	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	7	148	---	---	---	---	A	155253865	G	A	155253865	2	1	79	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	10	4171										
DDX60	55601	broad.mit.edu	37	chr4	169227602	169227602	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	aggcaaagaacatcagattcTtgccctgaggaaagtacaac	9	9	2	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			Somatic					p.Q178Q	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	C	169227602	T	C	169227602	2	2	79	1	0	0	0	0	0	0	0	1	4378	1606	56	2		2	DDX60	4	169227602	Silent	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	13973737	169227602	21926674	11	4172										
ADAMTS12	81792	broad.mit.edu	37	chr5	33630978	33630978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tccagcattttctcagaaaaCtggccatctatgggtcggca	9	11	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.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)	Somatic				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	p.Q643Q	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	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	8	48	---	---	---	---	T	33630978	C	T	33630978	2	4	79	1	0	0	0	0	0	0	0	1	257	564	20	2		2	ADAMTS12	5	33630978	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33630978	147284282	12	4173										
CXXC5	51523	broad.mit.edu	37	chr5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tgccggcggcgcatcaactgCgagcagtgcagcagttgtag	15	11	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.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*	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*		Somatic				CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*	p.C275*	NM_016463.7	NP_057547.5	WXS	Illumina GAIIx	Phase_I	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	3	109	---	---	---	---	A	139060933	C	A	139060933	4	1	79	1	0	0	0	0	0	1	0	0	4099	776	27	3	827	3	CXXC5	5	139060933	Nonsense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	105429955	139060933	41854327	13	4174										
OR2H2	7932	broad.mit.edu	37	chr6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	agctccactctccaatgtacTttttcctctccaacctctcc	2	18	3	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.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		Somatic				GABBR1_ENST00000355973.3_Intron	p.F59V	NM_007160.3	NP_009091.3	WXS	Illumina GAIIx	Phase_I	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	15	108	---	---	---	---	G	29555896	T	G	29555896	3	3	79	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	14	4175										
PHF3	23469	broad.mit.edu	37	chr6	64404530	64404530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	aatgaaattaaaaaatggcaGctagctcctcttcgtaagat	7	7	1	2	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			Somatic				PHF3_ENST00000393387.1_Silent_p.Q852Q	p.Q852Q			WXS	Illumina GAIIx	Phase_I	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	3	171	---	---	---	---	A	64404530	G	A	64404530	2	1	79	1	0	0	0	0	0	0	0	1	11836	962	34	2		2	PHF3	6	64404530	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	34848634	64404530	106710537	15	4176										
MUC17	140453	broad.mit.edu	37	chr7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tacaacttctgaaggtaccaGcatgccaacctcaactccta	5	14	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.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		Somatic					p.S2209N	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	63	464	---	---	---	---	A	100681323	G	A	100681323	3	1	79	1	0	0	0	0	1	0	0	0	9974	971	34	2	6636	2	MUC17	7	100681323	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		100681323	58457340	16	4177										
ADAM9	8754	broad.mit.edu	37	chr8	38880740	38880740	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	atttggaccaatggaaacctGatcaacatagttgggggtgc	12	7	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.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			Somatic					p.L270L	NM_003816.2	NP_003807.1	WXS	Illumina GAIIx	Phase_I	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	5	94	---	---	---	---	A	38880740	G	A	38880740	2	1	79	1	0	0	0	0	0	0	0	1	253	1277	45	2		2	ADAM9	8	38880740	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		38880740	107483282	17	4178										
COL27A1	85301	broad.mit.edu	37	chr9	116968050	116968050	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	cctttgcaggggcagccaggAcctgagggcagcccaggggc	17	13	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			Somatic					p.G727G	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	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	22	55	---	---	---	---	G	116968050	A	G	116968050	2	3	79	1	0	0	0	0	0	0	0	1	3685	262	10	2		2	COL27A1	9	116968050	Silent	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		116968050	24245381	18	4179										
OR5D18	219438	broad.mit.edu	37	chr11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tctgctattcctccatcattGctcccaagatgttggtgaac	7	12	2	2	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		Somatic					p.A79T	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	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	17	218	---	---	---	---	A	55587340	G	A	55587340	3	1	79	1	0	0	0	0	1	0	0	0	11157	1319	46	2	237	2	OR5D18	11	55587340	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		55587340	79419176	19	4180										
ZP1	22917	broad.mit.edu	37	chr11	60640728	60640728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	cctgctcctatgacccagccCggccccctgcggcttgagct	10	19	0	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			Somatic					p.P402P	NM_207341.2	NP_997224.2	WXS	Illumina GAIIx	Phase_I	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	33	184	---	---	---	---	T	60640728	C	T	60640728	2	4	79	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	20	4181										
DHCR7	1717	broad.mit.edu	37	chr11	71153385	71153385	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	tggcagaagtcagggagagaCgtgtacagaagcacctgaaa	14	7	1	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.chr11:71153385C>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			Somatic				DHCR7_ENST00000407721.2_Silent_p.T112T	p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	WXS	Illumina GAIIx	Phase_I	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	5	25	---	---	---	---	A	71153385	C	A	71153385	2	1	79	1	0	0	0	0	0	0	0	1	4477	523	19	3		3	DHCR7	11	71153385	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	10512657	71153385	63853131	21	4182										
SCN2B	6327	broad.mit.edu	37	chr11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	agtccagttcagggagaactGtttgtggttcactgtgtagc	13	7	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.chr11:118039353G>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*		Somatic					p.Q62*	NM_004588.4	NP_004579.1	WXS	Illumina GAIIx	Phase_I	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	7	348	---	---	---	---	A	118039353	G	A	118039353	4	1	79	1	0	0	0	0	0	1	0	0	13917	1386	48	2	475	2	SCN2B	11	118039353	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	46885968	118039353	16967163	22	4183										
FREM2	341640	broad.mit.edu	37	chr13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	ttttctctctagagccaactGtgtttattccccagtccaaa	5	12	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.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		Somatic					p.V1884L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	4	120	---	---	---	---	T	39357215	G	T	39357215	3	4	79	1	0	0	0	0	1	0	0	0	6045	1377	48	3	5668	3	FREM2	13	39357215	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		39357215	75812663	23	4184										
OLFM4	10562	broad.mit.edu	37	chr13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	gggaaagagggcaaactagaCattgtaatgcataagatgca	12	5	0	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.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		Somatic					p.D468E	NM_006418.4	NP_006409.3	WXS	Illumina GAIIx	Phase_I	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	21	33	---	---	---	---	G	53624777	C	G	53624777	3	3	79	1	0	0	0	0	1	0	0	0	10855	477	17	4	1422	4	OLFM4	13	53624777	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	14267562	53624777	61545101	24	4185										
RLTPR	146206	broad.mit.edu	37	chr16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	ctgtggggctgggccccaggGtgaagccgctgtgcgccagg	19	12	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.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		Somatic				RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	p.G752D	NM_001013838.1	NP_001013860.1	WXS	Illumina GAIIx	Phase_I	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	5	60	---	---	---	---	A	67685160	G	A	67685160	3	1	79	1	0	0	0	0	1	0	0	0	13394	1261	44	2	2345	2	RLTPR	16	67685160	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		67685160	22669593	25	4186										
ACCN1	40	broad.mit.edu	37	chr17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	cacagtcaatcctacaggcgGtgatgctgtaaacaggaaaa	10	9	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.chr17:31355331G>A	ENST00000359872.6	-	4	1675	c.914C>T	c.(913-915)aCc>aTc	p.T305I	ASIC2_ENST00000225823.2_Missense_Mutation_p.T356I|ASIC2_ENST00000448983.1_5'UTR	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		Somatic				ASIC2_ENST00000359872.6_Missense_Mutation_p.T305I|ASIC2_ENST00000448983.1_5'UTR	p.T356I	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	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	3	64	---	---	---	---	A	31355331	G	A	31355331	3	1	79	1	0	0	0	0	1	0	0	0	128	1261	44	2	652	2	ACCN1	17	31355331	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		31355331	49839879	26	4187										
ZNF652	22834	broad.mit.edu	37	chr17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	taacgttcatgtgcttctccAggtaccagcgagtgttaaat	9	9	2	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.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		Somatic				ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	p.L260P	NM_014897.2	NP_055712.1	WXS	Illumina GAIIx	Phase_I	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	10	59	---	---	---	---	G	47394309	A	G	47394309	3	3	79	1	0	0	0	0	1	0	0	0	18062	188	7	2	1061	2	ZNF652	17	47394309	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	16038978	47394309	33800901	27	4188										
GPR108	56927	broad.mit.edu	37	chr19	6731293	6731293	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	gaagtagacgtagcagatgaCctgcaggggcgcgagcaggc	17	9	0	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.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.(1351-1353)Gtc>Ttc		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			Somatic				GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209F	p.V451F	NM_001080452.1	NP_001073921.1	WXS	Illumina GAIIx	Phase_I	Q9NPR9	GP108_HUMAN			16	1377	-			451					B9EJD7	Splice_Site	SNP	ENST00000264080.7	37	c.1351G>T	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	9	44	---	---	---	---	A	6731293	C	A	6731293	5	1	79	1	0	0	0	0	0	0	1	0	6624	521	18	3	292	3	GPR108	19	6731293	Splice_Site	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		6731293	52397690	28	4189										
HAO1	54363	broad.mit.edu	37	chr20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	aaaactcacagtggctggcaCcccatcgagttgtcgagccc	10	14	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.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		Somatic					p.V268M	NM_017545.2	NP_060015.1	WXS	Illumina GAIIx	Phase_I	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	35	107	---	---	---	---	T	7875791	C	T	7875791	3	4	79	1	0	0	0	0	1	0	0	0	6951	507	18	2	326	2	HAO1	20	7875791	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		7875791	55149729	29	4190										
FAM47A	158724	broad.mit.edu	37	chrX	34150170	34150170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	agatattttggggagtaaaaActcgtcacggcgacaaacga	11	7	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.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		Somatic					p.F76I	NM_203408.3	NP_981953.2	WXS	Illumina GAIIx	Phase_I	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	7	28	---	---	---	---	T	34150170	A	T	34150170	3	4	79	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	30	4191										
GPRASP2	114928	broad.mit.edu	37	chrX	101972035	101972035	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.506329113924051	0	0.540084388185654	1	1	0	aaaatgctattgaatttgtcTgaaaatcctgctgtggcaaa	8	6	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.chrX:101972035T>G	ENST00000535209.1	+	4	3069	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000332262.5_Silent_p.S746S|GPRASP2_ENST00000543253.1_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			Somatic				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	WXS	Illumina GAIIx	Phase_I					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	5	53	---	---	---	---	G	101972035	T	G	101972035	2	3	79	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	31	4192										
POGZ	23126	broad.mit.edu	37	chr1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-													0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	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_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs	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)cccgatggcaacattaacfs		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		Somatic	OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|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_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs	p.DGNIN1333fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	WXS	Illumina GAIIx	Phase_I	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)		1333					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	80	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	4193										
AIM2	9447	broad.mit.edu	37	chr1	159035790	159035790	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	gtttcaccagcttttctgatAatgttcagcgggacattaac	8	9	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.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			Somatic					p.I242I	NM_004833.1	NP_004824.1	WXS	Illumina GAIIx	Phase_I	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	10	58	---	---	---	---	T	159035790	A	T	159035790	2	4	80	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	4194										
CEP350	9857	broad.mit.edu	37	chr1	179966074	179966074	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	aactgactcttctccatcctCtactagtacttctaattccc	2	15	4	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.chr1:179966074C>A	ENST00000367607.3	+	6	1200	c.782C>A	c.(781-783)tCt>tAt	p.S261Y		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	261					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						TCTCCATCCTCTACTAGTACT	0.378																																						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.(781-783)tCt>tAt		centrosomal protein 350kDa							114	116	115					1																	179966074		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179966074C>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.782C>A	1.37:g.179966074C>A	ENSP00000356579:p.Ser261Tyr		Somatic					p.S261Y	NM_014810.4	NP_055625.4	WXS	Illumina GAIIx	Phase_I	Q5VT06	CE350_HUMAN			6	1200	+			261					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.782C>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812727	0.90707	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.21361	2.01;2.01	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000236	T	0.37100	0.0991	L	0.32530	0.975	0.51482	D	0.999927	D;D;D	0.89917	0.998;0.997;1.0	D;P;D	0.91635	0.991;0.876;0.999	T	0.03231	-1.1058	9	.	.	.	.	18.7147	0.91671	0.0:1.0:0.0:0.0	.	261;261;235	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	Y	261;235	ENSP00000356579:S261Y;ENSP00000435808:S235Y	.	S	+	2	0	CEP350	178232697	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.646000	0.74348	2.523000	0.85059	0.446000	0.29264	TCT		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	45	4	45	---	---	---	---	A	179966074	C	A	179966074	3	1	80	1	0	0	0	0	1	0	0	0	3254	913	32	3	800	3	CEP350	1	179966074	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	20930284	179966074	69284547	3	4195										
C1orf65	164127	broad.mit.edu	37	chr1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	agaacgagagtccacgcagcGgctgggcgggcagaggtccg	18	11	0	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.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		Somatic					p.R30Q	NM_152610.2	NP_689823.2	WXS	Illumina GAIIx	Phase_I	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	4	10	---	---	---	---	A	223566906	G	A	223566906	3	1	80	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	43600832	223566906	25683715	4	4196										
SNRNP200	23020	broad.mit.edu	37	chr2	96955019	96955019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	aatgagaagaccctgaaaagCtcaatctcactcagggtggg	11	9	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.chr2:96955019C>A	ENST00000323853.5	-	22	3116	c.3039G>T	c.(3037-3039)gaG>gaT	p.E1013D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1013	SEC63 1.				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						CCCTGAAAAGCTCAATCTCAC	0.517																																						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.(3037-3039)gaG>gaT		small nuclear ribonucleoprotein 200kDa (U5)							112	108	109					2																	96955019		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.chr2:96955019C>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.3039G>T	2.37:g.96955019C>A	ENSP00000317123:p.Glu1013Asp		Somatic				SNRNP200_ENST00000349783.5_Intron	p.E1013D	NM_014014.4	NP_054733.2	WXS	Illumina GAIIx	Phase_I	O75643	U520_HUMAN			22	3116	-			1013			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3039G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516442	0.27123	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.58060	0.36	6.03	4.18	0.49190	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	N	0.17564	0.495	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.08249	-1.0731	10	0.35671	T	0.21	-24.5305	7.3167	0.26505	0.0:0.6604:0.0:0.3396	.	1013	O75643	U520_HUMAN	D	1013;688	ENSP00000317123:E1013D	ENSP00000317123:E1013D	E	-	3	2	SNRNP200	96318746	0.978000	0.34361	0.998000	0.56505	0.309000	0.27889	0.258000	0.18387	0.825000	0.34637	-0.136000	0.14681	GAG		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		4	40	4	40	---	---	---	---	A	96955019	C	A	96955019	3	1	80	1	0	0	0	0	1	0	0	0	14852	796	28	3	3467	3	SNRNP200	2	96955019	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		96955019	146244354	5	4197										
ROBO2	6092	broad.mit.edu	37	chr3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	agcttcttctaagggatccaCtggacctaggaaaaccgagg	11	10	2	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.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S	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		Somatic				ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	p.T1341S	NM_002942.4	NP_002933.1	WXS	Illumina GAIIx	Phase_I	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	5	62	---	---	---	---	G	77693942	C	G	77693942	3	3	80	1	0	0	0	0	1	0	0	0	13514	565	20	4	4122	4	ROBO2	3	77693942	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		77693942	120328488	6	4198										
GP5	2814	broad.mit.edu	37	chr3	194118889	194118889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	aggcctagcgcggagatgcgCgccacgtcgccccccgagca	14	17	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.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			Somatic				GP5_ENST00000323007.3_Silent_p.A41A	p.A41A			WXS	Illumina GAIIx	Phase_I	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	13	28	---	---	---	---	T	194118889	C	T	194118889	2	4	80	1	0	0	0	0	0	0	0	1	6583	755	27	2		2	GP5	3	194118889	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	116424947	194118889	3903541	7	4199										
RCHY1	25898	broad.mit.edu	37	chr4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	gcctacctccaaacatattgGacaattctgtcgggacacat	7	12	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.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000514021.1_5'Flank	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		Somatic				RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T	p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	WXS	Illumina GAIIx	Phase_I	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	12	35	---	---	---	---	T	76417113	G	T	76417113	3	4	80	1	0	0	0	0	1	0	0	0	13177	1174	41	3	369	3	RCHY1	4	76417113	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		76417113	114737163	8	4200										
NPY1R	4886	broad.mit.edu	37	chr4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	cacagcaaggacccaaatcaCagcaatacctacataagcat	5	13	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.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	4886				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		Somatic				NPY1R_ENST00000509586.1_Intron	p.V161L	NM_000909.5	NP_000900.1	WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	A	164247226	C	A	164247226	3	1	80	1	0	0	0	0	1	0	0	0	10608	478	17	3	681	3	NPY1R	4	164247226	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	87830113	164247226	26907050	9	4201										
CDX1	1044	broad.mit.edu	37	chr5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ggtctacaccgaccaccaacGcctggagctggagaaggagt	13	12	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.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		Somatic					p.R166L	NM_001804.2	NP_001795.2	WXS	Illumina GAIIx	Phase_I	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	58	127	---	---	---	---	T	149562382	G	T	149562382	3	4	80	1	0	0	0	0	1	0	0	0	3182	1087	38	3	503	3	CDX1	5	149562382	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		149562382	31352878	10	4202										
IRF4	3662	broad.mit.edu	37	chr6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-													0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	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)gtcfs		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		Somatic				IRF4_ENST00000495137.1_3'UTR	p.V182fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	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	80	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	11	4203										
PHACTR1	221692	broad.mit.edu	37	chr6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-													0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	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_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|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)aagfs		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		Somatic				PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron	p.K265fs			WXS	Illumina GAIIx	Phase_I	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	80	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	12	4204										
HIST1H2AI	8329	broad.mit.edu	37	chr6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	tggcaagcagggaggcaaagCtcgcgccaaggccaagaccc	14	13	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.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		Somatic					p.A11V	NM_003509.2	NP_003500.1	WXS	Illumina GAIIx	Phase_I					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	19	82	---	---	---	---	T	27776019	C	T	27776019	3	4	80	1	0	0	0	0	1	0	0	0	7135	797	28	2	34	2	HIST1H2AI	6	27776019	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	14569842	27776019	143339048	13	4205										
HSP90AB1	3326	broad.mit.edu	37	chr6	44219539	44219539	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ctgctgcgctatcatacctcCcagtctggagatgagatgac	10	12	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.chr6:44219539C>A	ENST00000371554.1	+	9	1594	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Silent_p.S460S|HSP90AB1_ENST00000353801.3_Silent_p.S460S			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	460					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)			ATCATACCTCCCAGTCTGGAG	0.498																																						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.(1378-1380)tcC>tcA		heat shock protein 90kDa alpha (cytosolic), class B member 1							109	109	109					6																	44219539		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.chr6:44219539C>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.1380C>A	6.37:g.44219539C>A			Somatic				HSP90AB1_ENST00000371646.5_Silent_p.S460S|HSP90AB1_ENST00000353801.3_Silent_p.S460S	p.S460S			WXS	Illumina GAIIx	Phase_I	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1594	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		460					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.1380C>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264049	0.23136	.	.	ENSG00000096384	ENST00000435812;ENST00000415133;ENST00000428822	.	.	.	4.77	0.118	0.14667	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-12.7598	7.7282	0.28771	0.0:0.4007:0.0:0.5992	.	.	.	.	H	86	.	.	P	+	2	0	HSP90AB1	44327517	0.945000	0.32115	0.998000	0.56505	0.970000	0.65996	0.032000	0.13732	0.098000	0.17522	0.603000	0.83216	CCC		0.498	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		4	73	4	73	---	---	---	---	A	44219539	C	A	44219539	2	1	80	1	0	0	0	0	0	0	0	1	7402	610	22	1		1	HSP90AB1	6	44219539	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	16443520	44219539	126895528	14	4206										
CDC5L	988	broad.mit.edu	37	chr6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	gcagatttcaggaaattaagAcaacaggatcttgatgggga	12	5	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.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		Somatic					p.R243S	NM_001253.3	NP_001244.1	WXS	Illumina GAIIx	Phase_I	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	16	32	---	---	---	---	T	44371735	A	T	44371735	3	4	80	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	152196	44371735	126743332	15	4207										
CARD11	84433	broad.mit.edu	37	chr7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ctgctgcagcttgatgacctCgttcatcaggaagtgcgtga	12	10	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.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		Somatic				AC004906.3_ENST00000423194.1_RNA	p.E134K	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	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	12	39	---	---	---	---	T	2984130	C	T	2984130	3	4	80	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	4208										
DNAH11	8701	broad.mit.edu	37	chr7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-													0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	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)gatfs		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		Somatic				DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs	p.D3634fs			WXS	Illumina GAIIx	Phase_I	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	80	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	4209										
DNAJB5	25822	broad.mit.edu	37	chr9	34997172	34997172	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ccaactcagcgaggagacctCattgttgagttcaaagttcg	10	10	3	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.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000545841.1_Silent_p.L321L|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			Somatic				DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L	p.L321L			WXS	Illumina GAIIx	Phase_I	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	33	54	---	---	---	---	T	34997172	C	T	34997172	2	4	80	1	0	0	0	0	0	0	0	1	4623	813	29	2		2	DNAJB5	9	34997172	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		34997172	106216259	18	4210										
JAKMIP3	282973	broad.mit.edu	37	chr10	133949433	133949433	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	acatagtgcgttgtctttcaGttgaagcgcgtaagagaagc	12	7	2	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.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			Somatic						NM_001105521.2	NP_001098991.1	WXS	Illumina GAIIx	Phase_I				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	3	12	---	---	---	---	T	133949433	G	T	133949433	5	4	80	1	0	0	0	0	0	0	1	0	7942	1043	36	3	987	3	JAKMIP3	10	133949433	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		133949433	1585314	19	4211										
IL10RA	3587	broad.mit.edu	37	chr11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	tcttcagtcacttccgagagTatgagattgccattcgcaag	9	10	3	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.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H	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		Somatic				IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	p.Y167H	NM_001558.3	NP_001549.2	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	C	117864087	T	C	117864087	3	2	80	1	0	0	0	0	1	0	0	0	7620	1638	57	2	513	2	IL10RA	11	117864087	Missense_Mutation	SNP	T	TCGA-EJ-7327-01A-11D-2114-08		117864087	17142429	20	4212										
STK38L	23012	broad.mit.edu	37	chr12	27467471	27467471	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ttgctaatgaagaaagacacCttgacagaagaggaaacaca	9	7	0	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.chr12:27467471C>A	ENST00000389032.3	+	7	721	c.552C>A	c.(550-552)acC>acA	p.T184T	STK38L_ENST00000539577.1_Silent_p.T91T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											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)					AGAAAGACACCTTGACAGAAG	0.378																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(550-552)acC>acA		serine/threonine kinase 38 like							111	101	104					12																	27467471		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:27467471C>A	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.552C>A	12.37:g.27467471C>A			Somatic				STK38L_ENST00000539577.1_Silent_p.T91T	p.T184T	NM_015000.3	NP_055815.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H1	ST38L_HUMAN			7	721	+	Colorectal(261;0.0847)		184			Protein kinase.			Silent	SNP	ENST00000389032.3	37	c.552C>A	CCDS31761.1																																																																																				0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		3	33	3	33	---	---	---	---	A	27467471	C	A	27467471	2	1	80	1	0	0	0	0	0	0	0	1	15303	668	24	1		1	STK38L	12	27467471	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		27467471	106384424	21	4213										
PLBD2	196463	broad.mit.edu	37	chr12	113821961	113821961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	acccagccctgtggaagtatGtgcggcccaggggctgtgtg	16	11	0	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.chr12:113821961G>T	ENST00000280800.3	+	7	1040	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	PLBD2_ENST00000545182.2_Missense_Mutation_p.V337L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	337					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						GTGGAAGTATGTGCGGCCCAG	0.617																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1009-1011)Gtg>Ttg		phospholipase B domain containing 2							75	66	69					12																	113821961		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113821961G>T	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.1009G>T	12.37:g.113821961G>T	ENSP00000280800:p.Val337Leu		Somatic				PLBD2_ENST00000545182.2_Missense_Mutation_p.V337L	p.V337L	NM_173542.3	NP_775813.2	WXS	Illumina GAIIx	Phase_I	Q8NHP8	PLBL2_HUMAN			7	1040	+			337					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1009G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761502	0.49468	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18657	2.2;2.2	4.84	4.84	0.62591	.	0.070231	0.56097	D	0.000025	T	0.21962	0.0529	M	0.62266	1.93	0.40584	D	0.981423	P;B	0.35821	0.523;0.231	B;B	0.38378	0.272;0.267	T	0.07501	-1.0769	10	0.52906	T	0.07	-31.3692	5.5829	0.17260	0.1712:0.1865:0.6423:0.0	.	337;337	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	337	ENSP00000443463:V337L;ENSP00000280800:V337L	ENSP00000280800:V337L	V	+	1	0	PLBD2	112306344	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	5.134000	0.64770	2.217000	0.71921	0.305000	0.20034	GTG		0.617	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		3	54	3	54	---	---	---	---	T	113821961	G	T	113821961	3	4	80	1	0	0	0	0	1	0	0	0	12026	1377	48	3	1035	3	PLBD2	12	113821961	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	86354490	113821961	20029934	22	4214										
TUBA3C	7278	broad.mit.edu	37	chr13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	cagcccgctgcaccttggccAggtctcccccagggaccacc	10	20	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.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		Somatic					p.L368Q	NM_006001.2	NP_005992.1	WXS	Illumina GAIIx	Phase_I	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	16	53	---	---	---	---	T	19748253	A	T	19748253	3	4	80	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	23	4215										
COL4A2	1284	broad.mit.edu	37	chr13	111145626	111145626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	ccaagggctttccaggatccCcaggtactctgtgccgtccc	10	16	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.chr13:111145626C>A	ENST00000360467.5	+	39	3937	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1211	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)			TCCAGGATCCCCAGGTACTCT	0.612																																						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.(3631-3633)Cca>Aca		collagen, type IV, alpha 2							42	50	47					13																	111145626		1991	4162	6153	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111145626C>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.3631C>A	13.37:g.111145626C>A	ENSP00000353654:p.Pro1211Thr		Somatic					p.P1211T	NM_001846.2	NP_001837.2	WXS	Illumina GAIIx	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		39	3937	+	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)	1211			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3631C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853347	0.51270	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93076	-3.16	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000038	D	0.95887	0.8661	M	0.66939	2.045	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.94970	0.8116	10	0.35671	T	0.21	.	15.8396	0.78835	0.0:1.0:0.0:0.0	.	1211	P08572	CO4A2_HUMAN	T	1211	ENSP00000353654:P1211T	ENSP00000257309:P1211T	P	+	1	0	COL4A2	109943627	1.000000	0.71417	0.973000	0.42090	0.600000	0.36913	4.485000	0.60279	2.454000	0.82982	0.561000	0.74099	CCA		0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	58	4	58	---	---	---	---	A	111145626	C	A	111145626	3	1	80	1	0	0	0	0	1	0	0	0	3690	623	22	1	3781	1	COL4A2	13	111145626	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	91397373	111145626	4024252	24	4216										
KRT27	342574	broad.mit.edu	37	chr17	38938670	38938670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	agccccaaagcctgctccccCactagagagcctcacagagc	8	18	1	2	rs199775750		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.chr17:38938670C>A	ENST00000301656.3	-	1	116	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W		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)				CCTGCTCCCCCACTAGAGAGC	0.587													C|||	1	0.000199681	0	0	5008	,	,		18009	0.001		0	False		,,,				2504	0					ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(76-78)Ggg>Tgg		keratin 27							49	47	47					17																	38938670		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938670C>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.76G>T	17.37:g.38938670C>A	ENSP00000301656:p.Gly26Trp		Somatic					p.G26W	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y8	K1C27_HUMAN			1	116	-		Breast(137;0.000812)	26			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000301656.3	37	c.76G>T	CCDS11375.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.24	3.340502	0.60963	.	.	ENSG00000171446	ENST00000301656	D	0.84660	-1.88	5.54	4.56	0.56223	.	0.306916	0.28031	N	0.016868	D	0.90435	0.7005	M	0.84511	2.7	0.09310	N	1	P	0.50819	0.939	P	0.54372	0.75	D	0.84283	0.0495	10	0.38643	T	0.18	.	14.3822	0.66919	0.0:0.853:0.147:0.0	.	26	Q7Z3Y8	K1C27_HUMAN	W	26	ENSP00000301656:G26W	ENSP00000301656:G26W	G	-	1	0	KRT27	36192196	0.004000	0.15560	0.049000	0.19019	0.091000	0.18340	0.874000	0.28065	1.445000	0.47624	0.655000	0.94253	GGG		0.587	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		3	17	3	17	---	---	---	---	A	38938670	C	A	38938670	3	1	80	1	0	0	0	0	1	0	0	0	8464	594	21	1	1335	1	KRT27	17	38938670	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		38938670	42256540	25	4217										
OR4D2	124538	broad.mit.edu	37	chr17	56247418	56247418	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	cggcccctccgctatgtcacCgtcatgaacactcagctctg	8	17	4	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.chr17:56247418C>A	ENST00000545221.1	+	1	402	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	134						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(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTATGTCACCGTCATGAACA	0.577																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(400-402)acC>acA		olfactory receptor, family 4, subfamily D, member 2							90	90	90					17																	56247418		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247418C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.402C>A	17.37:g.56247418C>A			Somatic					p.T134T	NM_001004707.3	NP_001004707.1	WXS	Illumina GAIIx	Phase_I	P58180	OR4D2_HUMAN			1	402	+			134					Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.402C>A	CCDS32688.1																																																																																				0.577	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			4	90	4	90	---	---	---	---	A	56247418	C	A	56247418	2	1	80	1	0	0	0	0	0	0	0	1	11056	639	23	1		1	OR4D2	17	56247418	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	17308748	56247418	24947792	26	4218										
UQCR10	29796	broad.mit.edu	37	chr22	30163414	30163414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	gccgcgacgttgacttcgaaAttgtactccctgctgttccg	10	13	0	1	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			Somatic				UQCR10_ENST00000401406.3_Silent_p.K9K	p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	WXS	Illumina GAIIx	Phase_I	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	5	25	---	---	---	---	G	30163414	A	G	30163414	2	3	80	1	0	0	0	0	0	0	0	1	17013	98	4	2		2	UQCR10	22	30163414	Silent	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		30163414	21141152	27	4219										
WWC3	55841	broad.mit.edu	37	chrX	10058810	10058810	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.981447124304267	0	1.14502164502165	1	1	0	tgatttttctgttttaactaGgattgatcggaagatgtcaa	9	4	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.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			Somatic				WWC3_ENST00000454666.1_Splice_Site		NM_015691.3	NP_056506.2	WXS	Illumina GAIIx	Phase_I	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	9	13	---	---	---	---	A	10058810	G	A	10058810	5	1	80	1	0	0	0	0	0	0	1	0	17410	1014	35	2	395	2	WWC3	23	10058810	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		10058810	145211750	28	4220										
PLK3	1263	broad.mit.edu	37	chr1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaataagttcggctttgggTatcaactgtccagccgccgt	10	12	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.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		Somatic				PLK3_ENST00000465443.1_3'UTR	p.Y478H	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	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	27	97	---	---	---	---	C	45270100	T	C	45270100	3	2	81	1	0	0	0	0	1	0	0	0	12097	1638	57	2	1478	2	PLK3	1	45270100	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		45270100	203980521	1	4221										
HECTD3	79654	broad.mit.edu	37	chr1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacctggttggctgtgcgtAcaaagaagggcaggggcacg	16	8	0	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.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G|HECTD3_ENST00000486132.1_5'Flank	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		Somatic				HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	p.V570G	NM_024602.5	NP_078878.3	WXS	Illumina GAIIx	Phase_I	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	12	84	---	---	---	---	C	45472380	A	C	45472380	3	2	81	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	2	4222										
CCDC17	149483	broad.mit.edu	37	chr1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggctggggtccagaggaaGggcccgaagtgggaggcgcc	20	9	0	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.chr1:46086625G>A	ENST00000528266.1	-	11	1696	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	CCDC17_ENST00000421127.2_Missense_Mutation_p.L508F|CCDC17_ENST00000445048.2_Intron|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		Somatic				CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	p.L508F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	A	46086625	G	A	46086625	3	1	81	1	0	0	0	0	1	0	0	0	2793	1000	35	2	331	2	CCDC17	1	46086625	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	614245	46086625	203163996	3	4223										
LPPR4	9890	broad.mit.edu	37	chr1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctaagcttctgaaacctcTcttggtcttcacatttatca	4	12	6	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.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P|LPPR4_ENST00000457765.1_Intron	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	9890						phosphatidate phosphatase activity	g.chr1:99767329T>C																												ENST00000370185.3:c.842T>C	1.37:g.99767329T>C	ENSP00000359204:p.Leu281Pro		Somatic				LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	p.L281P	NM_014839.4	NP_055654.2	WXS	Illumina GAIIx	Phase_I	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	7	72	---	---	---	---	C	99767329	T	C	99767329	3	2	81	1	0	0	0	0	1	0	0	0	8927	1551	54	2	864	2	LPPR4	1	99767329	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	53680704	99767329	149483292	4	4224										
PDE4DIP	9659	broad.mit.edu	37	chr1	144916719	144916719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agataactgttccacttccaGgcctttggccctcaggagac	9	13	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.chr1:144916719G>A	ENST00000369354.3	-	13	1825	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000529945.1_Silent_p.L709L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L			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			Somatic				PDE4DIP_ENST00000313382.9_Silent_p.L612L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313431.9_Silent_p.L709L	p.L709L			WXS	Illumina GAIIx	Phase_I	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	5	350	---	---	---	---	A	144916719	G	A	144916719	2	1	81	1	0	0	0	0	0	0	0	1	11643	991	35	2		2	PDE4DIP	1	144916719	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	45149390	144916719	104333902	5	4225										
LRP2	4036	broad.mit.edu	37	chr2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcatcaaaacaatctgttTcttgatcacaataccaatgt	5	9	4	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.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		Somatic					p.E2886V	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	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	8	81	---	---	---	---	A	170053462	T	A	170053462	3	1	81	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		170053462	73145911	6	4226										
C3orf14	57415	broad.mit.edu	37	chr3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaaagtcactacagaccaGgattcacccacttccacggc	7	14	2	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.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|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		Somatic				C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA	p.R71K			WXS	Illumina GAIIx	Phase_I	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	19	87	---	---	---	---	A	62317034	G	A	62317034	3	1	81	1	0	0	0	0	1	0	0	0	2208	1000	35	2	222	2	C3orf14	3	62317034	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		62317034	135705396	7	4227										
LPHN3	23284	broad.mit.edu	37	chr4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatggacaagtttcatacaTttctccgccaattcaccttg	5	12	4	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.chr4:62679557T>A	ENST00000514591.1	+	8	1555	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000512091.2_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506746.1_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																																						ENST00000512091.2																			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		Somatic				LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N	p.I409N			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			8	1973	+								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	10	39	---	---	---	---	A	62679557	T	A	62679557	3	1	81	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	8	4228										
FAT2	2196	broad.mit.edu	37	chr5	150911164	150911164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacctgtgcgagcatccagGcggaacctgccttgctcgtt	11	14	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.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			Somatic					p.R3265R	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	A	150911164	G	A	150911164	2	1	81	1	0	0	0	0	0	0	0	1	5690	1190	42	2		2	FAT2	5	150911164	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		150911164	30004096	9	4229										
GLDC	2731	broad.mit.edu	37	chr9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcaatatttgcagacttTttgaagggtctcgtgtccaa	9	9	2	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.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		Somatic					p.K871N	NM_000170.2	NP_000161.2	WXS	Illumina GAIIx	Phase_I	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	26	93	---	---	---	---	G	6540103	T	G	6540103	3	3	81	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	10	4230										
ZNF485	220992	broad.mit.edu	37	chr10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcatcccttttaaatcaccAtaaggttcatgcaggcaaac	5	11	3	0	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		Somatic				ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R|ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R	p.H177R	NM_145312.3	NP_660355.2	WXS	Illumina GAIIx	Phase_I	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	18	84	---	---	---	---	G	44112021	A	G	44112021	3	3	81	1	0	0	0	0	1	0	0	0	17935	217	8	2	544	2	ZNF485	10	44112021	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08		44112021	91422726	11	4231										
HKDC1	80201	broad.mit.edu	37	chr10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagatgcgggctgagctggAgtatgggctgaagaagaaga	17	5	0	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.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		Somatic				HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G|HKDC1_ENST00000488706.1_3'UTR	p.E496G	NM_025130.3	NP_079406	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	G	71008401	A	G	71008401	3	3	81	1	0	0	0	0	1	0	0	0	7193	304	11	2	1525	2	HKDC1	10	71008401	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	26896380	71008401	64526346	12	4232										
GRID1	2894	broad.mit.edu	37	chr10	87407079	87407079	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gggttggtgcccttggctcgGaagtactcatatacagcaga	13	9	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.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	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)	Somatic				GRID1_ENST00000536331.1_Silent_p.F262F|RP11-93H12.4_ENST00000474115.2_RNA	p.F691F	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	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	8	331	---	---	---	---	A	87407079	G	A	87407079	2	1	81	1	0	0	0	0	0	0	0	1	6771	1165	41	2		2	GRID1	10	87407079	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	16398678	87407079	48127668	13	4233										
IFIT5	24138	broad.mit.edu	37	chr10	91177946	91177946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atatttcatttcaaagcagcCatggaacgagactctatgtt	7	8	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.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			Somatic				IFIT5_ENST00000416601.1_Silent_p.A282A	p.A330A	NM_012420.2	NP_036552.1	WXS	Illumina GAIIx	Phase_I	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	31	159	---	---	---	---	T	91177946	C	T	91177946	2	4	81	1	0	0	0	0	0	0	0	1	7525	581	21	2		2	IFIT5	10	91177946	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3770867	91177946	44356801	14	4234										
PITX3	5309	broad.mit.edu	37	chr10	103990274	103990274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctacgggcggggccgctcaTacgggcctttccacggcgta	14	14	2	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.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			Somatic				PITX3_ENST00000539804.1_Silent_p.V302V	p.V302V	NM_005029.3	NP_005020.1	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	C	103990274	T	C	103990274	2	2	81	1	0	0	0	0	0	0	0	1	11956	1393	49	2		2	PITX3	10	103990274	Silent	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	12812328	103990274	31544473	15	4235										
TRIM68	55128	broad.mit.edu	37	chr11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggatgtagccttagcagaCggactttttctacaacattg	9	9	1	1	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		Somatic					p.R83H	NM_018073.6	NP_060543.5	WXS	Illumina GAIIx	Phase_I	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	31	151	---	---	---	---	T	4626487	C	T	4626487	3	4	81	1	0	0	0	0	1	0	0	0	16538	536	19	2	1233	2	TRIM68	11	4626487	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		4626487	130380029	16	4236										
CACNA2D4	93589	broad.mit.edu	37	chr12	2022195	2022195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggcctggagtacctggacCgcctcgactttcctccgcag	11	16	0	0	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_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000585732.1_Silent_p.A140A	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			Somatic				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	p.A140A	NM_172364.4	NP_758952.4	WXS	Illumina GAIIx	Phase_I	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	8	30	---	---	---	---	T	2022195	C	T	2022195	2	4	81	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	17	4237										
BRCA2	90634	broad.mit.edu	37	chr13	32972737	32972738	+	IGR	INS	-	-	T													0	0	1	0	0	0	1	1	0	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_ENST00000544455.1_Frame_Shift_Ins_p.I3363fs|BRCA2_ENST00000380152.3_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)atafs	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)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	p.I3363fs	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	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	81	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		32972737	82197141	18	4238										
C15orf44	81556	broad.mit.edu	37	chr15	65871953	65871953	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccacccctttcagcaggtcCaggaaaccaaaggctagagc	10	14	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.chr15:65871953C>G	ENST00000395644.4	-	12	1685	c.1350G>C	c.(1348-1350)ctG>ctC	p.L450L	VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000313182.2_Silent_p.L450L			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			Somatic				VWA9_ENST00000431261.2_Silent_p.L371L|VWA9_ENST00000567744.1_Silent_p.L486L|VWA9_ENST00000420799.2_Silent_p.L393L|VWA9_ENST00000442903.3_Silent_p.L414L|VWA9_ENST00000569491.1_Silent_p.L400L|VWA9_ENST00000313182.2_Silent_p.L450L	p.L450L			WXS	Illumina GAIIx	Phase_I					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	5	42	---	---	---	---	G	65871953	C	G	65871953	2	3	81	1	0	0	0	0	0	0	0	1	1798	581	21	4		4	C15orf44	15	65871953	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		65871953	36659439	19	4239										
MUC16	94025	broad.mit.edu	37	chr19	9082695	9082695	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagtgggggaaaggaagctTgtttctttctcagtggatag	15	5	2	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.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			Somatic					p.T3040T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	8	72	---	---	---	---	A	9082695	T	A	9082695	2	1	81	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	20	4240										
TRMT1	55621	broad.mit.edu	37	chr19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgggcacgaggccggggacCccagttggcctccgggttag	17	14	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.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S			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		Somatic				TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S	p.G560S			WXS	Illumina GAIIx	Phase_I	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	21	143	---	---	---	---	T	13216326	C	T	13216326	3	4	81	1	0	0	0	0	1	0	0	0	16558	623	22	2	313	2	TRMT1	19	13216326	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	4133631	13216326	45912657	21	4241										
ACPT	93650	broad.mit.edu	37	chr19	51297838	51297838	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatcccgccaaagatggagGgtgagaatggtttggtgccc	15	8	0	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.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986G>A	c.(985-987)gGg>gAg	p.G329E	ACPT_ENST00000270594.3_Splice_Site_p.G236E|CTD-2568A17.8_ENST00000594114.1_RNA	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.(985-987)gGg>gAg		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			Somatic				ACPT_ENST00000270594.3_Splice_Site_p.G236E	p.G329E	NM_033068.2	NP_149059.1	WXS	Illumina GAIIx	Phase_I	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.986G>A	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	4	35	---	---	---	---	A	51297838	G	A	51297838	5	1	81	1	0	0	0	0	0	0	1	0	168	1246	43	2	1020	2	ACPT	19	51297838	Splice_Site	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	38081512	51297838	7831145	22	4242										
LILRB5	10990	broad.mit.edu	37	chr19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaattacctcttctgcaggcCctggtccttgggctctggcc	11	14	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.chr19:54756362C>T	ENST00000316219.5	-	10	1629	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000450632.1_Missense_Mutation_p.G500S	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	10990				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		Somatic				LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S|LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S	p.G500S			WXS	Illumina GAIIx	Phase_I	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	27	89	---	---	---	---	T	54756362	C	T	54756362	3	4	81	1	0	0	0	0	1	0	0	0	8794	623	22	2	266	2	LILRB5	19	54756362	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3458524	54756362	4372621	23	4243										
ACRC	93953	broad.mit.edu	37	chrX	70828895	70828895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaaatactctggaaaaaaTttaaagcgaaataaggatga	8	3	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.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		Somatic				ACRC_ENST00000373696.3_Missense_Mutation_p.N513K	p.N513K			WXS	Illumina GAIIx	Phase_I	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	12	15	---	---	---	---	A	70828895	T	A	70828895	3	1	81	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	24	4244										
ATG4A	115201	broad.mit.edu	37	chrX	107396937	107396937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagattttgagattctgagtGtgtagaatcctgggaactca	11	5	2	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_ENST00000372254.3_Missense_Mutation_p.V374M|ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron	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		Somatic				ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M	p.V398M	NM_052936.3	NP_443168.2	WXS	Illumina GAIIx	Phase_I	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	6	69	---	---	---	---	A	107396937	G	A	107396937	3	1	81	1	0	0	0	0	1	0	0	0	1096	1377	48	2	1242	2	ATG4A	23	107396937	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	36568042	107396937	47873623	25	4245										
PASD1	139135	broad.mit.edu	37	chrX	150832695	150832695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcaggtggactcagtggacCaggagggcccaatggaccag	15	10	2	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		Somatic					p.Q316E	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	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	21	45	---	---	---	---	G	150832695	C	G	150832695	3	3	81	1	0	0	0	0	1	0	0	0	11471	595	21	4	984	4	PASD1	23	150832695	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	43435758	150832695	4437865	26	4246										
ENO1	2023	broad.mit.edu	37	chr1	8923006	8923006	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	aaggggcaccagtcttgatcTaggagaaaagaaaggccatt	12	7	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	C	8923006	T	C	8923006	5	2	82	1	0	0	0	0	0	0	1	0	5121	1536	53	2	137	2	ENO1	1	8923006	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		8923006	240327615	1	4247										
CLCNKB	1188	broad.mit.edu	37	chr1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	ggccaggagctgctatcgggCgcctctttggggagactctc	15	12	2	1	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		Somatic				CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	p.R438C	NM_000085.4	NP_000076.2	WXS	Illumina GAIIx	Phase_I				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	9	260	---	---	---	---	T	16378219	C	T	16378219	3	4	82	1	0	0	0	0	1	0	0	0	3470	768	27	2	1510	2	CLCNKB	1	16378219	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	7455213	16378219	232872402	2	4248										
KIFAP3	22920	broad.mit.edu	37	chr1	169953739	169953739	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tgaccttcacagataagctgTacatttcttttgttagcagc	7	9	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.chr1:169953739T>C	ENST00000361580.2	-	12	1604	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367765.1_Silent_p.V419V	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			Somatic				KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V	p.V419V	NM_001204517.1	NP_001191446.1	WXS	Illumina GAIIx	Phase_I	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	8	58	---	---	---	---	C	169953739	T	C	169953739	2	2	82	1	0	0	0	0	0	0	0	1	8311	1625	57	2		2	KIFAP3	1	169953739	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	153575520	169953739	79296882	3	4249										
EPB41L5	57669	broad.mit.edu	37	chr2	120932465	120932465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gtcctgaagcagaagtgtttActgaccactgagctctgagg	12	9	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.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			Somatic				AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L	p.T685A	NM_001184937.1	NP_001171866.1	WXS	Illumina GAIIx	Phase_I	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	27	157	---	---	---	---	G	120932465	A	G	120932465	2	3	82	1	0	0	0	0	0	0	0	1	5157	391	14	2		2	EPB41L5	2	120932465	Silent	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		120932465	122266908	4	4250										
IQCF3	401067	broad.mit.edu	37	chr3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tgcatcacagaaaaagggtgAaggcagctgggcagatccag	14	8	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.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*			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*		Somatic				IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron	p.K35*			WXS	Illumina GAIIx	Phase_I	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	15	43	---	---	---	---	T	51864455	A	T	51864455	4	4	82	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	5	4251										
RYBP	23429	broad.mit.edu	37	chr3	72428400	72428400	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	acttagttaaccagaaacttActtggttttcttgttggtat	7	6	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.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																																						ENST00000477973.2																			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			Somatic						NM_012234.5	NP_036366.3	WXS	Illumina GAIIx	Phase_I	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	28	99	---	---	---	---	T	72428400	A	T	72428400	5	4	82	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	6	4252										
KCNAB1	7881	broad.mit.edu	37	chr3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	ccctccagaggctgcagctcGagtatgtggatgtggtcttt	13	10	1	1	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_ENST00000389634.5_Intron|KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.E184*|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000497291.1_3'UTR	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*		Somatic				KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron	p.E184*	NM_172159.3	NP_751891.1	WXS	Illumina GAIIx	Phase_I	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	14	128	---	---	---	---	T	156192555	G	T	156192555	4	4	82	1	0	0	0	0	0	1	0	0	8009	1059	37	3	1105	3	KCNAB1	3	156192555	Nonsense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	83764155	156192555	41829875	7	4253										
HELQ	113510	broad.mit.edu	37	chr4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gttggcaaggaatatattaaAttttttctttcttgcacaga	7	5	2	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.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		Somatic				HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	p.N354K	NM_133636.2	NP_598375	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	T	84370065	A	T	84370065	3	4	82	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	8	4254										
AGA	175	broad.mit.edu	37	chr4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tactttccgtgccacaccaaTagcatttttaattcgtctga	5	11	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.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		Somatic				AGA_ENST00000506853.1_5'UTR	p.I112V	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	WXS	Illumina GAIIx	Phase_I	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	38	271	---	---	---	---	C	178360790	T	C	178360790	3	2	82	1	0	0	0	0	1	0	0	0	365	1406	49	2	734	2	AGA	4	178360790	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	93990725	178360790	12793486	9	4255										
PCDH1	5097	broad.mit.edu	37	chr5	141242917	141242917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gcaggtggcaggtcctgtacCacctggtgcttcttggaggc	15	11	1	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.chr5:141242917C>T	ENST00000394536.3	-	3	3118	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000287008.3_Silent_p.V993V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V	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			Somatic				PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000394536.3_Silent_p.V993V	p.V993V	NM_032420.2	NP_115796.2	WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	T	141242917	C	T	141242917	2	4	82	1	0	0	0	0	0	0	0	1	11506	581	21	2		2	PCDH1	5	141242917	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		141242917	39672343	10	4256										
USP45	85015	broad.mit.edu	37	chr6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	ggggctctgttctggaactcTtaaagtgcttcaatgaatgt	11	7	4	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.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_ENST00000392738.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_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		Somatic				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_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R	p.K107R	NM_001080481.1	NP_001073950.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	C	99955361	T	C	99955361	3	2	82	1	0	0	0	0	1	0	0	0	17073	1609	56	2	2184	2	USP45	6	99955361	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		99955361	71159706	11	4257										
CDK13	8621	broad.mit.edu	37	chr7	40085626	40085626	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	atatccttctaaataataggTatgggtatgaactttatata	6	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.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		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	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			Somatic				CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site		NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	WXS	Illumina GAIIx	Phase_I	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	31	101	---	---	---	---	C	40085626	T	C	40085626	5	2	82	1	0	0	0	0	0	0	1	0	3129	1652	57	2	2567	2	CDK13	7	40085626	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		40085626	119053037	12	4258										
CNGB3	54714	broad.mit.edu	37	chr8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cacaaaaactccagaaaaaaAattcaagagttgaaaaacaa	4	7	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.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		Somatic					p.F427V	NM_019098.4	NP_061971.3	WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	C	87645021	A	C	87645021	3	2	82	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	13	4259										
C9orf21	195827	broad.mit.edu	37	chr9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gtctgtttgtaaagttcacaTgctgaactcctacaagctgt	8	9	2	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.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		Somatic					p.H214R	NM_153698.1	NP_714542.1	WXS	Illumina GAIIx	Phase_I	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	16	93	---	---	---	---	C	99404081	T	C	99404081	3	2	82	1	0	0	0	0	1	0	0	0	2473	1464	51	2	43	2	C9orf21	9	99404081	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		99404081	41809350	14	4260										
RPP38	10557	broad.mit.edu	37	chr10	15145358	15145358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gggcggggatctctccgtaaGacgagacctctggttgtgaa	15	9	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.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	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			Somatic				RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	p.K15K	NM_183005.4	NP_892117.1	WXS	Illumina GAIIx	Phase_I	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	13	74	---	---	---	---	A	15145358	G	A	15145358	2	1	82	1	0	0	0	0	0	0	0	1	13613	933	33	2		2	RPP38	10	15145358	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		15145358	120389389	15	4261										
PTCHD3	374308	broad.mit.edu	37	chr10	27702748	27702748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gcggctgtcagcatcaagggCgccagcaggaagatccaggg	16	11	2	1	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			Somatic					p.A144A	NM_001034842.3	NP_001030014.2	WXS	Illumina GAIIx	Phase_I	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	12	78	---	---	---	---	T	27702748	C	T	27702748	2	4	82	1	0	0	0	0	0	0	0	1	12734	755	27	2		2	PTCHD3	10	27702748	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	12557390	27702748	107831999	16	4262										
ZMIZ1	57178	broad.mit.edu	37	chr10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cttttctttccctccagcctCccaggccggttcctgtggca	8	17	1	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.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		Somatic					p.P499S	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	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	41	257	---	---	---	---	T	81058166	C	T	81058166	3	4	82	1	0	0	0	0	1	0	0	0	17693	855	30	2	1537	2	ZMIZ1	10	81058166	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	53355418	81058166	54476581	17	4263										
SLC6A5	9152	broad.mit.edu	37	chr11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gcagaggctgaagttggtgtGctcgccacagccggactggg	17	10	0	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.chr11:20676275G>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		Somatic				SLC6A5_ENST00000528440.1_3'UTR	p.C752Y	NM_004211.3	NP_004202.2	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	A	20676275	G	A	20676275	3	1	82	1	0	0	0	0	1	0	0	0	14687	1319	46	2	2317	2	SLC6A5	11	20676275	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		20676275	114330241	18	4264										
OR4X2	119764	broad.mit.edu	37	chr11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gtgctcactgtcatgaccagCagaagccttggttcccccat	9	14	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.chr11:48266787C>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		Somatic					p.S44R	NM_001004727.1	NP_001004727.1	WXS	Illumina GAIIx	Phase_I	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	14	117	---	---	---	---	A	48266787	C	A	48266787	3	1	82	1	0	0	0	0	1	0	0	0	11085	709	25	3	134	3	OR4X2	11	48266787	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	27590512	48266787	86739729	19	4265										
SAPS3	55291	broad.mit.edu	37	chr11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	taggaacttctgctatcatgGatttgttgctcaggctcctg	10	9	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.chr11:68315610G>T	ENST00000393800.2	+	5	744	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_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		Somatic				PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y	p.D164Y			WXS	Illumina GAIIx	Phase_I	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	4	114	---	---	---	---	T	68315610	G	T	68315610	3	4	82	1	0	0	0	0	1	0	0	0	13838	1174	41	3	500	3	SAPS3	11	68315610	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	20048823	68315610	66690906	20	4266										
KCTD14	65987	broad.mit.edu	37	chr11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cccgacgttcagctccacaaCagtagacatctgggggcaca	10	14	2	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.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|RP11-7I15.3_ENST00000533697.1_RNA|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S	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		Somatic				NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S	p.V34L	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	WXS	Illumina GAIIx	Phase_I	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	8	46	---	---	---	---	G	77728307	C	G	77728307	3	3	82	1	0	0	0	0	1	0	0	0	8101	478	17	4	671	4	KCTD14	11	77728307	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	9412697	77728307	57278209	21	4267										
TRIM29	23650	broad.mit.edu	37	chr11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	aggcggcgccctccaggtggGgcttgagatgcagctcgcag	17	12	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		Somatic					p.P201L	NM_012101.3	NP_036233.2	WXS	Illumina GAIIx	Phase_I	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	7	35	---	---	---	---	A	120008138	G	A	120008138	3	1	82	1	0	0	0	0	1	0	0	0	16500	1232	43	2	1200	2	TRIM29	11	120008138	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	42279831	120008138	14998378	22	4268										
SCN8A	6334	broad.mit.edu	37	chr12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gcttggacatcctttttgccTtcaccaagcgggtcctggga	11	12	1	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.chr12:52200821T>G	ENST00000354534.6	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	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																																						ENST00000354534.6																			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		Somatic				SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	p.F1851V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	WXS	Illumina GAIIx	Phase_I	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5729	+								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	26	117	---	---	---	---	G	52200821	T	G	52200821	3	3	82	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	23	4269										
WIF1	11197	broad.mit.edu	37	chr12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	ctggcattctctgttgtgctTttctgaaatcatgtgtaaaa	8	7	3	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.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		Somatic					p.K72R	NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	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	5	109	---	---	---	---	C	65514270	T	C	65514270	3	2	82	1	0	0	0	0	1	0	0	0	17363	1841	64	2	960	2	WIF1	12	65514270	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	13313449	65514270	68337625	24	4270										
CAND1	55832	broad.mit.edu	37	chr12	67700301	67700301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gaaggaaccagaaatgttgtTgctgaatgtctaggaaaact	11	5	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.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			Somatic					p.V951V	NM_018448.3	NP_060918.2	WXS	Illumina GAIIx	Phase_I	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	12	75	---	---	---	---	C	67700301	T	C	67700301	2	2	82	1	0	0	0	0	0	0	0	1	2615	1799	63	2		2	CAND1	12	67700301	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	2186031	67700301	66151594	25	4271										
ATP12A	479	broad.mit.edu	37	chr13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	aagggggatggcaaggagaaGtataggggtctgaagaacaa	17	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.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		Somatic				ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina GAIIx	Phase_I	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	9	67	---	---	---	---	T	25255780	G	T	25255780	3	4	82	1	0	0	0	0	1	0	0	0	1122	1020	36	3	96	3	ATP12A	13	25255780	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		25255780	89914098	26	4272										
RB1	5925	broad.mit.edu	37	chr13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tgctatgtgtccttgactatTttattaaactctcacctccc	4	12	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.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)	Somatic					p.F226L	NM_000321.2	NP_000312.2	WXS	Illumina GAIIx	Phase_I	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	19	91	---	---	---	---	C	48934221	T	C	48934221	3	2	82	1	0	0	0	0	1	0	0	0	13098	1841	64	2	702	2	RB1	13	48934221	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	23678441	48934221	66235657	27	4273										
GPC6	10082	broad.mit.edu	37	chr13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tggaggaaatgctcaatgacTtttgggctcggctcctggaa	13	8	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.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		Somatic				GPC6-AS2_ENST00000445540.1_RNA	p.F164L	NM_005708.3	NP_005699.1	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	C	94482577	T	C	94482577	3	2	82	1	0	0	0	0	1	0	0	0	6602	1609	56	2	500	2	GPC6	13	94482577	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	45548356	94482577	20687301	28	4274										
FOXA1	3169	broad.mit.edu	37	chr14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	agtagcagccgttctcgaacAtgttgccggagtccgggtgc	14	11	1	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.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		Somatic				FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	p.M253T	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	4	28	---	---	---	---	G	38061231	A	G	38061231	3	3	82	1	0	0	0	0	1	0	0	0	5989	217	8	2	664	2	FOXA1	14	38061231	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		38061231	69288309	29	4275										
MAP1A	4130	broad.mit.edu	37	chr15	43815432	43815432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	ccagggctgggacaagaagaAcatgtgatgaaggagaaaga	15	5	0	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.chr15:43815432A>G	ENST00000300231.5	+	4	2211	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E	MAP1A_ENST00000399453.1_Silent_p.E587E|MAP1A_ENST00000382031.1_Silent_p.E825E			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			Somatic				MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E	p.E825E			WXS	Illumina GAIIx	Phase_I	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	6	22	---	---	---	---	G	43815432	A	G	43815432	2	3	82	1	0	0	0	0	0	0	0	1	9227	40	2	2		2	MAP1A	15	43815432	Silent	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		43815432	58715960	30	4276										
PRR25	388199	broad.mit.edu	37	chr16	857600	857600	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cgtcttctgtccctgcatttAgagaagggggatggcaaagg	14	8	2	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.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		Somatic					p.L199F	NM_001013638.1	NP_001013660.1	WXS	Illumina GAIIx	Phase_I	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	5	52	---	---	---	---	C	857600	A	C	857600	3	2	82	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	31	4277										
CCDC101	112869	broad.mit.edu	37	chr16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-													0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	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)gcafs		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		Somatic					p.A70fs	NM_138414.2	NP_612423.1	WXS	Illumina GAIIx	Phase_I	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	82	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	27739427	28597027	61757726	32	4278										
CDH11	1009	broad.mit.edu	37	chr16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tgggactttggcttcctgatGccgattgtctgggaagacag	14	8	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.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)	Somatic				CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N	p.H467N			WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	T	65005959	G	T	65005959	3	4	82	1	0	0	0	0	1	0	0	0	3097	1319	46	3	1007	3	CDH11	16	65005959	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	36408932	65005959	25348794	33	4279										
DPEP3	64180	broad.mit.edu	37	chr16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	gtcataatttccaccaatccCgatgaactcagatccaatga	5	12	2	3	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		Somatic					p.G380R	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	WXS	Illumina GAIIx	Phase_I	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	7	46	---	---	---	---	T	68010634	C	T	68010634	3	4	82	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	34	4280										
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	11	3	2	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_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	15	135	---	---	---	---	T	47696424	G	T	47696424	3	4	82	1	0	0	0	0	1	0	0	0	15083	1281	45	3	749	3	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		47696424	33498786	35	4281										
CDC37	11140	broad.mit.edu	37	chr19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cctccagctccttcagtttcCtctggcactcggccaccttg	7	18	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.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		Somatic					p.R66T	NM_007065.3	NP_008996.1	WXS	Illumina GAIIx	Phase_I	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	27	122	---	---	---	---	G	10506785	C	G	10506785	3	3	82	1	0	0	0	0	1	0	0	0	3068	681	24	4	967	4	CDC37	19	10506785	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		10506785	48622198	36	4282										
NPHS1	4868	broad.mit.edu	37	chr19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cattgtccacaatgcactggTaagcgccagcctgggccagt	11	13	0	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.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		Somatic				NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	p.Y814S	NM_004646.3	NP_004637.1	WXS	Illumina GAIIx	Phase_I	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	19	103	---	---	---	---	G	36333346	T	G	36333346	3	3	82	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	25826561	36333346	22795637	37	4283										
ANGPT4	51378	broad.mit.edu	37	chr20	861826	861826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0263157894736842	1	1	0.630525437864887	0	0.770642201834862	1	1	0	cccctaaccttcctgggcttCgttgcattggacacctggat	9	14	0	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.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			Somatic				ANGPT4_ENST00000546022.1_Silent_p.T313T	p.T313T	NM_015985.2	NP_057069.1	WXS	Illumina GAIIx	Phase_I	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	9	32	---	---	---	---	T	861826	C	T	861826	2	4	82	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		861826	62163694	38	4284										
SPEN	23013	broad.mit.edu	37	chr1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-													0	0	1	0	0	0	1	1	0	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)gagfs		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		Somatic					p.E3636fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	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	83	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		16265833	232984788	1	4285										
SCMH1	22955	broad.mit.edu	37	chr1	41494399	41494399	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccaggtatcggtccgaccCtgcaggacaggagggcacct	13	14	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.chr1:41494399C>A	ENST00000326197.7	-	14	2014		c.e14-1		SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000402904.2_Splice_Site					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)				CGGTCCGACCCTGCAGGACAG	0.597																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.e15-1		sex comb on midleg homolog 1 (Drosophila)							51	48	49					1																	41494399		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:41494399C>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.1715-1G>T	1.37:g.41494399C>A			Somatic				SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000326197.7_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site		NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			15	2083	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)							Splice_Site	SNP	ENST00000326197.7	37		CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957222	0.34565	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8261	0.85931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCMH1	41266986	1.000000	0.71417	0.995000	0.50966	0.231000	0.25187	4.980000	0.63812	2.532000	0.85374	0.563000	0.77884	.		0.597	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		Intron	4	81	4	81	---	---	---	---	A	41494399	C	A	41494399	5	1	83	1	0	0	0	0	0	0	1	0	13908	695	24	1	276	1	SCMH1	1	41494399	Splice_Site	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	25228566	41494399	207756222	2	4286										
FCGR2B	2213	broad.mit.edu	37	chr1	161647303	161647303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctattcacttctcatgcaccCggatgctctggaagagcctg	9	13	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.chr1:161647303C>A	ENST00000358671.5	+	8	974	c.893C>A	c.(892-894)cCg>cAg	p.P298Q	FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367962.4_Missense_Mutation_p.P298Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	298					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)	CTCATGCACCCGGATGCTCTG	0.468			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"			L	?		ALL		0											c.(892-894)cCg>cAg		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)						181	175	177					1																	161647303		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161647303C>A	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.893C>A	1.37:g.161647303C>A	ENSP00000351497:p.Pro298Gln		Somatic				FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P298Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q	p.P298Q			WXS	Illumina GAIIx	Phase_I	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		8	1020	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		298					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.893C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044516	0.55110	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000236937;ENST00000367961;ENST00000358671	T;T;T;T;T;T	0.33654	4.49;1.4;4.06;4.06;1.4;4.49	5.18	4.27	0.50696	.	2.953980	0.01505	N	0.017688	T	0.44030	0.1274	L	0.57536	1.79	0.24121	N	0.995805	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.992	T	0.21177	-1.0253	10	0.46703	T	0.11	.	9.6194	0.39712	0.0:0.9039:0.0:0.0961	.	291;279;298	P31994-3;P31994-2;P31994	.;.;FCG2B_HUMAN	Q	298;291;279;279;291;298	ENSP00000356939:P298Q;ENSP00000356937:P291Q;ENSP00000386038:P279Q;ENSP00000236937:P279Q;ENSP00000356938:P291Q;ENSP00000351497:P298Q	ENSP00000236937:P279Q	P	+	2	0	FCGR2B	159913927	0.010000	0.17322	0.010000	0.14722	0.119000	0.20118	1.297000	0.33400	1.181000	0.42912	0.655000	0.94253	CCG		0.468	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		4	185	4	185	---	---	---	---	A	161647303	C	A	161647303	3	1	83	1	0	0	0	0	1	0	0	0	5782	652	23	1	923	1	FCGR2B	1	161647303	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	120152904	161647303	87603318	3	4287										
ASAP2	8853	broad.mit.edu	37	chr2	9496433	9496433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcatctcagaagtgcagaGgatgacgggcaatgacgtct	13	8	3	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.chr2:9496433G>T	ENST00000281419.3	+	14	1626	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	429	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						GAAGTGCAGAGGATGACGGGC	0.493																																						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.(1285-1287)aGg>aTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							72	67	69					2																	9496433		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.chr2:9496433G>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.1286G>T	2.37:g.9496433G>T	ENSP00000281419:p.Arg429Met		Somatic				ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M	p.R429M	NM_003887.2	NP_003878.1	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			14	1626	+			429			Arf-GAP.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1286G>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354627	0.61293	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.46063	0.88;0.88	5.24	1.49	0.22878	.	0.227084	0.52532	D	0.000078	T	0.52370	0.1730	M	0.84585	2.705	0.51482	D	0.999922	P;P	0.51537	0.888;0.946	B;P	0.49012	0.401;0.598	T	0.57370	-0.7823	10	0.66056	D	0.02	.	10.1845	0.42988	0.2649:0.0:0.7351:0.0	.	429;429	O43150-2;O43150	.;ASAP2_HUMAN	M	429	ENSP00000281419:R429M;ENSP00000316404:R429M	ENSP00000281419:R429M	R	+	2	0	ASAP2	9413884	1.000000	0.71417	0.949000	0.38748	0.442000	0.32017	2.583000	0.46094	0.094000	0.17404	0.655000	0.94253	AGG		0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		3	42	3	42	---	---	---	---	T	9496433	G	T	9496433	3	4	83	1	0	0	0	0	1	0	0	0	1011	1000	35	1	1340	1	ASAP2	2	9496433	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		9496433	233702940	4	4288										
TTN	7273	broad.mit.edu	37	chr2	179451941	179451941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgaagtaatactcattccCagggacaagattggttacat	8	8	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.chr2:179451941C>A	ENST00000591111.1	-	257	59298	c.59074G>T	c.(59074-59076)Ggg>Tgg	p.G19692W	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G21333W			Q8WZ42	TITIN_HUMAN	titin	19692	Fibronectin type-III 42. {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.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(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)			TACTCATTCCCAGGGACAAGA	0.453																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(1)	lung(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.(63997-63999)Ggg>Tgg		titin							159	159	159					2																	179451941		1938	4139	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451941C>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.59074G>T	2.37:g.179451941C>A	ENSP00000465570:p.Gly19692Trp		Somatic				TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN_ENST00000591111.1_Missense_Mutation_p.G19692W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000591332.1_RNA	p.G21333W	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	64221	-			19692			Ig-like 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.63997G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.368436	0.82463	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	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	0.80065	0.4555	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	0.97110	1.0;1.0;1.0;1.0	T	0.80948	-0.1154	9	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	12268;12393;12460;19692	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	18765;12268;12460;12393;12266	ENSP00000343764:G18765W;ENSP00000434586:G12268W;ENSP00000340554:G12460W;ENSP00000352154:G12393W	ENSP00000340554:G12460W	G	-	1	0	TTN	179160187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.720000	0.93068	0.650000	0.86243	GGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	157	4	157	---	---	---	---	A	179451941	C	A	179451941	3	1	83	1	0	0	0	0	1	0	0	0	16732	594	21	1	44206	1	TTN	2	179451941	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	169955508	179451941	63747432	5	4289										
SLC4A3	6508	broad.mit.edu	37	chr2	220501531	220501531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctacatctcgcctttcaccCaggagatctttgcctttctc	6	15	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.chr2:220501531C>A	ENST00000358055.3	+	16	2982	c.2470C>A	c.(2470-2472)Cag>Aag	p.Q824K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	824	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)		GCCTTTCACCCAGGAGATCTT	0.577																																						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.(2470-2472)Cag>Aag		solute carrier family 4 (anion exchanger), member 3							197	182	187					2																	220501531		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501531C>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.2470C>A	2.37:g.220501531C>A	ENSP00000350756:p.Gln824Lys		Somatic				SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K	p.Q824K			WXS	Illumina GAIIx	Phase_I	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)	16	2982	+		Renal(207;0.0183)	824			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2470C>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908439	0.92107	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.46	4.46	0.54185	Bicarbonate transporter, C-terminal (1);	0.061993	0.64402	D	0.000002	D	0.92041	0.7478	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	0.982;0.998;1.0	D;D;D	0.91635	0.938;0.992;0.999	D	0.94065	0.7330	10	0.87932	D	0	.	17.65	0.88161	0.0:1.0:0.0:0.0	.	528;824;851	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	K	824;824;851;851;87;824	ENSP00000350756:Q824K;ENSP00000362865:Q824K;ENSP00000273063:Q851K;ENSP00000362867:Q851K;ENSP00000314006:Q824K	ENSP00000273063:Q851K	Q	+	1	0	SLC4A3	220209775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.495000	0.81514	2.454000	0.82982	0.637000	0.83480	CAG		0.577	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	192	4	192	---	---	---	---	A	220501531	C	A	220501531	3	1	83	1	0	0	0	0	1	0	0	0	14655	595	21	1	2609	1	SLC4A3	2	220501531	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	41049590	220501531	22697842	6	4290										
RBM15B	29890	broad.mit.edu	37	chr3	51430154	51430154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgagagtttgaccgctttGggagcattcggaccattgat	12	10	0	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.chr3:51430154G>T	ENST00000323686.4	+	1	1424	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		TGACCGCTTTGGGAGCATTCG	0.577																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1324-1326)Ggg>Tgg		RNA binding motif protein 15B							83	90	88					3																	51430154		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.chr3:51430154G>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.1324G>T	3.37:g.51430154G>T	ENSP00000313890:p.Gly442Trp		Somatic					p.G442W	NM_013286.4	NP_037418.3	WXS	Illumina GAIIx	Phase_I	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1424	+			442			RRM 3.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1324G>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377413	0.82682	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.47177	0.85	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	D	0.83036	0.5167	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90605	0.4547	9	0.87932	D	0	-22.4068	19.0335	0.92967	0.0:0.0:1.0:0.0	.	442	Q8NDT2	RB15B_HUMAN	W	442;115	ENSP00000313890:G442W	ENSP00000313890:G442W	G	+	1	0	RBM15B	51405194	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.441000	0.97557	2.488000	0.83962	0.655000	0.94253	GGG		0.577	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	132	4	132	---	---	---	---	T	51430154	G	T	51430154	3	4	83	1	0	0	0	0	1	0	0	0	13117	1348	47	1	1326	1	RBM15B	3	51430154	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		51430154	146592276	7	4291										
ABCC5	10057	broad.mit.edu	37	chr3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctgtgcagaaactcctgcCctttattgtaggcgtggatg	11	10	0	1	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		Somatic				ABCC5_ENST00000265586.6_Intron	p.G1070E	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	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	11	35	---	---	---	---	T	183667559	C	T	183667559	3	4	83	1	0	0	0	0	1	0	0	0	56	623	22	2	1140	2	ABCC5	3	183667559	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	132237405	183667559	14354871	8	4292										
RAP1GDS1	5910	broad.mit.edu	37	chr4	99300221	99300221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgcacagattgtaattgacCatttaaggtcactgtgcagt	10	7	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.chr4:99300221C>A	ENST00000408927.3	+	5	528	c.415C>A	c.(415-417)Cat>Aat	p.H139N	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000380158.4_Intron	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	139					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)		TGTAATTGACCATTTAAGGTC	0.378			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.(415-417)Cat>Aat		RAP1, GTP-GDP dissociation stimulator 1							139	137	138					4																	99300221		1910	4128	6038	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99300221C>A		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.415C>A	4.37:g.99300221C>A	ENSP00000386153:p.His139Asn		Somatic				RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron	p.H139N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	WXS	Illumina GAIIx	Phase_I	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	5	528	+			139					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.415C>A	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282763	0.59867	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.50813	0.73;0.84;0.84;0.73;0.84	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.113562	0.64402	D	0.000018	T	0.35451	0.0932	N	0.14661	0.345	0.52501	D	0.999957	B;B;B;B	0.27117	0.079;0.079;0.168;0.023	B;B;B;B	0.25140	0.047;0.047;0.058;0.021	T	0.08743	-1.0707	10	0.28530	T	0.3	-2.9354	20.3932	0.98965	0.0:1.0:0.0:0.0	.	139;140;140;139	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	N	98;139;140;98;140	ENSP00000426096:H98N;ENSP00000386153:H139N;ENSP00000407157:H140N;ENSP00000421599:H98N;ENSP00000340454:H140N	ENSP00000340454:H140N	H	+	1	0	RAP1GDS1	99519244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CAT		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		4	119	4	119	---	---	---	---	A	99300221	C	A	99300221	3	1	83	1	0	0	0	0	1	0	0	0	13039	594	21	1	436	1	RAP1GDS1	4	99300221	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		99300221	91854055	9	4293										
TCF21	6943	broad.mit.edu	37	chr6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcgagccgcttatgtggaaCcaccgcgtcctgaccttgga	12	14	0	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.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	RP3-323P13.2_ENST00000607033.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_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	6943				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		Somatic				RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	p.T176S	NM_003206.3	NP_003197.2	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	G	134212927	C	G	134212927	3	3	83	1	0	0	0	0	1	0	0	0	15688	507	18	4	533	4	TCF21	6	134212927	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		134212927	36902140	10	4294										
HDAC9	9734	broad.mit.edu	37	chr7	18687446	18687446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaaagcagaagtgtgagacGcagacgcttaggcaaggtgt	15	6	0	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.chr7:18687446G>A	ENST00000432645.2	+	9	1065	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406451.4_Silent_p.T355T|HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T	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																																						ENST00000406451.4																			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			Somatic				HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T	p.T355T	NM_178423.1	NP_848510.1	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			10	1215	+	all_lung(11;0.187)							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	5	12	---	---	---	---	A	18687446	G	A	18687446	2	1	83	1	0	0	0	0	0	0	0	1	7014	1074	38	2		2	HDAC9	7	18687446	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		18687446	140451217	11	4295										
DYNC1I1	1780	broad.mit.edu	37	chr7	95705500	95705500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacctctggaacctcaacaaTgacaccgaggtgagcggcgg	13	12	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.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000437599.1_Silent_p.N544N|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			Somatic	OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N	p.N564N	NM_004411.4	NP_004402.1	WXS	Illumina GAIIx	Phase_I	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	10	20	---	---	---	---	C	95705500	T	C	95705500	2	2	83	1	0	0	0	0	0	0	0	1	4842	1461	51	2		2	DYNC1I1	7	95705500	Silent	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	77018054	95705500	63433163	12	4296										
ADAM18	8749	broad.mit.edu	37	chr8	39525629	39525630	+	Missense_Mutation	DNP	GC	GC	TT													0	0	1	0	0	0	1	1	0	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.chr8:39525629_39525630GC>TT	ENST00000265707.5	+	14	1484_1485	c.1439_1440GC>TT	c.(1438-1440)gGC>gTT	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)			GCATTGAATGGCCGTTTGTGCA	0.406																																						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|c.(1438-1440)ggC>ggT		ADAM metallopeptidase domain 18																																				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|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	Exception_encountered	8.37:g.39525629_39525630delinsTT	ENSP00000265707:p.Gly480Val		Somatic				ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	p.G480V|p.G480G	NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1484|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	Missense_Mutation|Silent	SNP	ENST00000265707.5	37	c.1439G>T|c.1440C>T	CCDS6113.1																																																																																				0.406	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		52|55	203|201	52	201	---	---	---	---	TT	39525630	GC	TT	39525629	3	4	83	1	0	0	0	0	1	0	0	0	239	1203	42	3	1493	3	ADAM18	8	39525629	Missense_Mutation	DNP	GC	TCGA-EJ-7331-01A-11D-2114-08		39525629	106838393	13	4297										
ZNF488	118738	broad.mit.edu	37	chr10	48370598	48370598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcaccatggcagctgggaaGggagccccgttgagcccatc	13	13	1	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.chr10:48370598G>T	ENST00000395702.2	+	2	293	c.66G>T	c.(64-66)aaG>aaT	p.K22N	ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	22					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						CAGCTGGGAAGGGAGCCCCGT	0.622																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(64-66)aaG>aaT		zinc finger protein 488							54	61	59					10																	48370598		2202	4299	6501	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370598G>T	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.66G>T	10.37:g.48370598G>T	ENSP00000379054:p.Lys22Asn		Somatic				ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR	p.K22N			WXS	Illumina GAIIx	Phase_I	Q96MN9	ZN488_HUMAN			2	293	+			22					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.66G>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730811	0.30684	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.62639	1.62;0.55;0.05;0.01;0.94;0.97	4.6	2.63	0.31362	.	2.229260	0.02737	U	0.115831	T	0.69088	0.3072	M	0.61703	1.905	0.18873	N	0.999987	D	0.58620	0.983	P	0.51016	0.656	T	0.47275	-0.9130	10	0.72032	D	0.01	.	6.1366	0.20237	0.3778:0.0:0.6222:0.0	.	22	Q96MN9	ZN488_HUMAN	N	22	ENSP00000379054:K22N;ENSP00000401469:K22N;ENSP00000415923:K22N;ENSP00000406508:K22N;ENSP00000410326:K22N;ENSP00000412898:K22N	ENSP00000379054:K22N	K	+	3	2	ZNF488	47990604	0.053000	0.20554	0.007000	0.13788	0.073000	0.16967	0.415000	0.21181	0.398000	0.25338	0.561000	0.74099	AAG		0.622	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		4	112	4	112	---	---	---	---	T	48370598	G	T	48370598	3	4	83	1	0	0	0	0	1	0	0	0	17937	991	35	1	68	1	ZNF488	10	48370598	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		48370598	87164149	14	4298										
TACC2	10579	broad.mit.edu	37	chr10	123843719	123843719	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagccgtggctaaagaaggAagcagatcacctggtgacag	13	10	1	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.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_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			Somatic				TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	p.G568G	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	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	13	27	---	---	---	---	T	123843719	A	T	123843719	2	4	83	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	75473121	123843719	11691028	15	4299										
OR2AG2	338755	broad.mit.edu	37	chr11	6789258	6789258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagagcgtggaatgtgccaGcagtatgtattttcccagga	12	8	0	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.chr11:6789258G>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			Somatic					p.L311L	NM_001004490.1	NP_001004490.1	WXS	Illumina GAIIx	Phase_I	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	3	79	---	---	---	---	A	6789258	G	A	6789258	2	1	83	1	0	0	0	0	0	0	0	1	10985	962	34	2		2	OR2AG2	11	6789258	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6789258	128217258	16	4300										
ARHGEF17	9828	broad.mit.edu	37	chr11	73078754	73078754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggacttccgactcagcagtGggggcggcagcagcagtgag	17	10	1	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.chr11:73078754G>T	ENST00000263674.3	+	21	6471	c.6121G>T	c.(6121-6123)Ggg>Tgg	p.G2041W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2041					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						ACTCAGCAGTGGGGGCGGCAG	0.647																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(6121-6123)Ggg>Tgg		Rho guanine nucleotide exchange factor (GEF) 17							103	98	99					11																	73078754		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.chr11:73078754G>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.6121G>T	11.37:g.73078754G>T	ENSP00000263674:p.Gly2041Trp		Somatic					p.G2041W	NM_014786.3	NP_055601.2	WXS	Illumina GAIIx	Phase_I	Q96PE2	ARHGH_HUMAN			21	6471	+			2041					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.6121G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240170	0.58995	.	.	ENSG00000110237	ENST00000263674	T	0.59502	0.26	5.57	4.47	0.54385	.	0.000000	0.47852	D	0.000201	T	0.64735	0.2625	L	0.47190	1.495	0.29084	N	0.882482	D	0.71674	0.998	P	0.62885	0.908	T	0.61496	-0.7051	10	0.87932	D	0	-28.5527	10.2126	0.43150	0.1046:0.0:0.8954:0.0	.	2041	Q96PE2	ARHGH_HUMAN	W	2041	ENSP00000263674:G2041W	ENSP00000263674:G2041W	G	+	1	0	ARHGEF17	72756402	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.651000	0.46674	2.617000	0.88574	0.561000	0.74099	GGG		0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	191	4	191	---	---	---	---	T	73078754	G	T	73078754	3	4	83	1	0	0	0	0	1	0	0	0	900	1348	47	1	6203	1	ARHGEF17	11	73078754	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	66289496	73078754	61927762	17	4301										
PCF11	51585	broad.mit.edu	37	chr11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaactggcaaagttccaagTctgccaaaagatggaaatct	8	8	2	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		Somatic					p.S593T	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	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	24	72	---	---	---	---	A	82877716	T	A	82877716	3	1	83	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	9798962	82877716	52128800	18	4302										
TUBA1C	84790	broad.mit.edu	37	chr12	49666942	49666942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgtgaggacatggctgccCttgagaaggattatgaggag	15	8	0	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.chr12:49666942C>A	ENST00000301072.6	+	4	1557	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	428					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATGGCTGCCCTTGAGAAGGA	0.512																																						ENST00000301072.6																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						c.(1282-1284)Ctt>Att		tubulin, alpha 1c							132	125	127					12																	49666942		2203	4300	6503	SO:0001583	missense	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666942C>A	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1282C>A	12.37:g.49666942C>A	ENSP00000301072:p.Leu428Ile		Somatic				TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA	p.L428I	NM_032704.3	NP_116093.1	WXS	Illumina GAIIx	Phase_I	Q9BQE3	TBA1C_HUMAN			4	1557	+			428						Missense_Mutation	SNP	ENST00000301072.6	37	c.1282C>A	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934137	0.52866	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	D;D	0.88664	-2.41;-2.41	4.89	3.99	0.46301	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.93016	3.37	0.80722	D	1	B;D	0.54601	0.21;0.967	P;D	0.85130	0.687;0.997	D	0.95997	0.8990	10	0.87932	D	0	.	12.8118	0.57643	0.0:0.9174:0.0:0.0826	.	498;428	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	I	498;428	ENSP00000443475:L498I;ENSP00000301072:L428I	ENSP00000301072:L428I	L	+	1	0	TUBA1C	47953209	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.200000	0.51051	1.381000	0.46364	0.556000	0.70494	CTT		0.512	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		4	180	4	180	---	---	---	---	A	49666942	C	A	49666942	3	1	83	1	0	0	0	0	1	0	0	0	16742	681	24	1	1296	1	TUBA1C	12	49666942	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		49666942	84184953	19	4303										
VPS13C	54832	broad.mit.edu	37	chr15	62212807	62212807	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaggaataaaatcatctcCtggcagcaaacttttatcct	5	11	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.chr15:62212807C>A	ENST00000261517.5	-	56	7175	c.7102G>T	c.(7102-7104)Gga>Tga	p.G2368*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*	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						AAATCATCTCCTGGCAGCAAA	0.289																																						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.(7102-7104)Gga>Tga		vacuolar protein sorting 13 homolog C (S. cerevisiae)							60	64	63					15																	62212807		2202	4291	6493	SO:0001587	stop_gained	54832				protein localization			g.chr15:62212807C>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.7102G>T	15.37:g.62212807C>A	ENSP00000261517:p.Gly2368*		Somatic				VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368*	p.G2368*	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			56	7175	-			2368						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.7102G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	49	15.213489	0.99826	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	.	.	.	X	2325;2368;2368;2368	.	ENSP00000249837:G2325X	G	-	1	0	VPS13C	60000099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.850000	0.98022	0.650000	0.86243	GGA		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	54	3	54	---	---	---	---	A	62212807	C	A	62212807	4	1	83	1	0	0	0	0	0	1	0	0	17188	690	24	1	4307	1	VPS13C	15	62212807	Nonsense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		62212807	40318585	20	4304										
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctgctgccgccccgcctGctgtgagaccacctgctgca	11	19	0	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.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		Somatic					p.C144Y	NM_030975.2	NP_112237.2	WXS	Illumina GAIIx	Phase_I	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	7	251	---	---	---	---	A	39412068	G	A	39412068	3	1	83	1	0	0	0	0	1	0	0	0	8577	1319	46	2	433	2	KRTAP9-9	17	39412068	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		39412068	41783142	21	4305										
NKIRAS2	28511	broad.mit.edu	37	chr17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgtctacttggccagcaAgatgacgcaaccccagagca	9	13	1	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_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|ZNF385C_ENST00000461831.1_5'Flank	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		Somatic				NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	p.K167R	NM_001001349.2	NP_001001349.1	WXS	Illumina GAIIx	Phase_I	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	5	71	---	---	---	---	G	40175835	A	G	40175835	3	3	83	1	0	0	0	0	1	0	0	0	10445	72	3	2	510	2	NKIRAS2	17	40175835	Missense_Mutation	SNP	A	TCGA-EJ-7331-01A-11D-2114-08	763767	40175835	41019375	22	4306										
ARSG	22901	broad.mit.edu	37	chr17	66364821	66364821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgggagatggacagtctGgtgggccagatcaaggacaa	15	8	3	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.chr17:66364821G>T	ENST00000448504.2	+	7	1633	c.837G>T	c.(835-837)ctG>ctT	p.L279L	ARSG_ENST00000452479.2_Silent_p.L115L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	279					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)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACAGTCTGGTGGGCCAGA	0.542																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(835-837)ctG>ctT		arylsulfatase G							124	112	116					17																	66364821		2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66364821G>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.837G>T	17.37:g.66364821G>T			Somatic				ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L115L	p.L279L	NM_014960.4	NP_055775.2	WXS	Illumina GAIIx	Phase_I	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1633	+			279					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.837G>T	CCDS11676.1																																																																																				0.542	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		4	185	4	185	---	---	---	---	T	66364821	G	T	66364821	2	4	83	1	0	0	0	0	0	0	0	1	992	1335	47	1		1	ARSG	17	66364821	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	26188986	66364821	14830389	23	4307										
DNAH17	8632	broad.mit.edu	37	chr17	76503647	76503647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggtggctccaggttcgctGgacctcaaaccagatggaga	13	11	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.chr17:76503647G>T	ENST00000585328.1	-	28	4592	c.4468C>A	c.(4468-4470)Cag>Aag	p.Q1490K	DNAH17_ENST00000389840.5_Missense_Mutation_p.Q1489K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1489	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)			CAGGTTCGCTGGACCTCAAAC	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.(4465-4467)Cag>Aag		dynein, axonemal, heavy chain 17							48	55	52					17																	76503647		2147	4278	6425	SO:0001583	missense	8632							g.chr17:76503647G>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.4468C>A	17.37:g.76503647G>T	ENSP00000465516:p.Gln1490Lys		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.Q1490K	p.Q1489K			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		28	4589	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4465C>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.937271	0.92458	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80994	-1.44	4.97	4.97	0.65823	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.94522	0.8236	H	0.99074	4.42	0.50039	D	0.999846	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	9	0.72032	D	0.01	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1489	Q9UFH2	DYH17_HUMAN	K	1490;1489	ENSP00000374490:Q1489K	ENSP00000300671:Q1490K	Q	-	1	0	DNAH17	74015242	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.594000	0.98254	2.276000	0.75962	0.563000	0.77884	CAG		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	26	3	26	---	---	---	---	T	76503647	G	T	76503647	3	4	83	1	0	0	0	0	1	0	0	0	4601	1357	47	1	9127	1	DNAH17	17	76503647	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	10138826	76503647	4691563	24	4308										
KIAA1632	57724	broad.mit.edu	37	chr18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattcttcagaaggtaatacTggcaagggtaaaataaaggc	10	6	2	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.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		Somatic					p.Q1072R	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	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	45	126	---	---	---	---	C	43497668	T	C	43497668	3	2	83	1	0	0	0	0	1	0	0	0	8249	1580	55	2	4636	2	KIAA1632	18	43497668	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08		43497668	34579580	25	4309										
TRIP10	9322	broad.mit.edu	37	chr19	6750305	6750305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtcccctcctcccaggcGtggctggcagaagctgaaag	12	15	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.chr19:6750305G>A	ENST00000313244.9	+	13	1433	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000600428.1_Silent_p.A302A|CTD-3128G10.6_ENST00000594056.1_RNA			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			Somatic				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			WXS	Illumina GAIIx	Phase_I	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	30	145	---	---	---	---	A	6750305	G	A	6750305	2	1	83	1	0	0	0	0	0	0	0	1	16551	1132	40	2		2	TRIP10	19	6750305	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6750305	52378678	26	4310										
ASXL1	171023	broad.mit.edu	37	chr20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggacttgcccttctggaaaTtaccccgagagccagggaag	12	11	1	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.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		Somatic				ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	p.L1413V	NM_015338.5	NP_056153	WXS	Illumina GAIIx	Phase_I	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	3	162	---	---	---	---	G	31024752	T	G	31024752	3	3	83	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	27	4311										
EMILIN3	90187	broad.mit.edu	37	chr20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccagcaggctcccccagagtCggtgcagccgtcggtccacg	13	17	0	1	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		Somatic					p.R310Q	NM_052846.1	NP_443078.1	WXS	Illumina GAIIx	Phase_I	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	3	19	---	---	---	---	T	39991280	C	T	39991280	3	4	83	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	28	4312										
PARVG	64098	broad.mit.edu	37	chr22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_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																																						ENST00000444313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(100-102)ccafs		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		Somatic				PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR	p.P35fs	NM_022141.5	NP_071424.1	WXS	Illumina GAIIx	Phase_I	Q9HBI0	PARVG_HUMAN			4	584	+		Ovarian(80;0.024)|all_neural(38;0.0299)						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	83	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	29	4313										
KDM6A	7403	broad.mit.edu	37	chrX	44969495	44969495	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctatgaccaatttacattaGtaagtcaaatcaacatgtga	5	7	3	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.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_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			Somatic				KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	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	28	33	---	---	---	---	A	44969495	G	A	44969495	5	1	83	1	0	0	0	0	0	0	1	0	8137	1043	36	2	4287	2	KDM6A	23	44969495	Splice_Site	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		44969495	110301065	30	4314										
GABRD	2563	broad.mit.edu	37	chr1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tctcctacaaccacaccaacGagaccctgggtctggacagc	8	16	2	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		Somatic					p.E107K	NM_000815.4	NP_000806.2	WXS	Illumina GAIIx	Phase_I	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	9	87	---	---	---	---	A	1957026	G	A	1957026	3	1	84	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	4315										
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	13	15	0	2	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		Somatic					p.R399H	NM_023014.1	NP_075390.1	WXS	Illumina GAIIx	Phase_I	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	19	124	---	---	---	---	A	12921405	G	A	12921405	3	1	84	1	0	0	0	0	1	0	0	0	12435	1087	38	2	1206	2	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	10964379	12921405	236329216	2	4316										
HPCA	3208	broad.mit.edu	37	chr1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	aggaatcctcaatgtggatgAgttcaagaagatctacgcca	10	8	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.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		Somatic				HPCA_ENST00000480118.1_3'UTR	p.E47G	NM_002143.2	NP_002134.2	WXS	Illumina GAIIx	Phase_I	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	9	79	---	---	---	---	G	33354639	A	G	33354639	3	3	84	1	0	0	0	0	1	0	0	0	7329	304	11	2	142	2	HPCA	1	33354639	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	20433234	33354639	215895982	3	4317										
FLG2	388698	broad.mit.edu	37	chr1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ctataggactgactacagggGttagactcaggttgaccaca	11	9	1	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.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.N344K	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	10	139	---	---	---	---	C	152329230	G	C	152329230	3	2	84	1	0	0	0	0	1	0	0	0	5923	1252	44	4	6147	4	FLG2	1	152329230	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	118974591	152329230	96921391	4	4318										
ANKRD45	339416	broad.mit.edu	37	chr1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	atatcttccagttgttgtctCtgctcaaaaagctcattaat	5	9	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.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		Somatic					p.Q225H	NM_198493.2	NP_940895.1	WXS	Illumina GAIIx	Phase_I	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	9	48	---	---	---	---	G	173593981	C	G	173593981	3	3	84	1	0	0	0	0	1	0	0	0	673	912	32	4	133	4	ANKRD45	1	173593981	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	21264751	173593981	75656640	5	4319										
RNF103	7844	broad.mit.edu	37	chr2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ttgtgtcttccacaagctcaTagaagtgcatttcaccactg	7	11	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.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR	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		Somatic				RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C	p.Y108C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	WXS	Illumina GAIIx	Phase_I	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	11	71	---	---	---	---	C	86847496	T	C	86847496	3	2	84	1	0	0	0	0	1	0	0	0	13423	1406	49	2	1746	2	RNF103	2	86847496	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		86847496	156351877	6	4320										
SAP130	79595	broad.mit.edu	37	chr2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	gacaggatactcctttctgaTtagctatttcctgcagcata	7	10	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.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		Somatic				SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S	p.N970S	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	C	128703100	T	C	128703100	3	2	84	1	0	0	0	0	1	0	0	0	13831	1493	52	2	354	2	SAP130	2	128703100	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	41855604	128703100	114496273	7	4321										
UBXN4	23190	broad.mit.edu	37	chr2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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)ggtaat>ggt		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		Somatic				UBXN4_ENST00000490163.1_3'UTR	p.N359del	NM_014607.3	NP_055422.1	WXS	Illumina GAIIx	Phase_I	Q92575	UBXN4_HUMAN			11	1385_1387	+			359			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	84	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	8	4322										
THSD7B	80731	broad.mit.edu	37	chr2	137814399	137814399	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ccccgggattgtgtagtatcTgagttcttaccatggtccaa	10	10	2	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.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			Somatic				THSD7B_ENST00000413152.2_Silent_p.S152S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000272643.3_Silent_p.S183S	p.S183S			WXS	Illumina GAIIx	Phase_I				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	13	246	---	---	---	---	G	137814399	T	G	137814399	2	3	84	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	9	4323										
SCN1A	6323	broad.mit.edu	37	chr2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	agaatttgccagcaaacaaaTttacgcccatgatgctgaaa	7	9	0	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_ENST00000409050.1_Missense_Mutation_p.N1339S|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|AC010127.3_ENST00000597623.1_RNA			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		Somatic				SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S	p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	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	6	68	---	---	---	---	C	166859166	T	C	166859166	3	2	84	1	0	0	0	0	1	0	0	0	13914	1493	52	2	1953	2	SCN1A	2	166859166	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	29044767	166859166	76340207	10	4324										
TTN	7273	broad.mit.edu	37	chr2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tgcaatttcctgctctgagtCaagtgcttcaactgcgggac	10	11	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.chr2:179605764C>G	ENST00000591111.1	-	46	11469	c.11245G>C	c.(11245-11247)Gac>Cac	p.D3749H	TTN_ENST00000589042.1_Missense_Mutation_p.D4066H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA			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		Somatic				TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000585451.1_RNA	p.D4066H	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	48	132	---	---	---	---	G	179605764	C	G	179605764	3	3	84	1	0	0	0	0	1	0	0	0	16732	826	29	4	92593	4	TTN	2	179605764	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	12746598	179605764	63593609	11	4325										
EXOC1	55763	broad.mit.edu	37	chr4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	aaagagtacagattatggaaAatatgaaggactaacaaagg	10	3	0	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.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		Somatic				EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	p.K402R	NM_001024924.1	NP_001020095.1	WXS	Illumina GAIIx	Phase_I	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	25	66	---	---	---	---	G	56744213	A	G	56744213	3	3	84	1	0	0	0	0	1	0	0	0	5301	14	1	2	1235	2	EXOC1	4	56744213	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		56744213	134410063	12	4326										
PDZD2	23037	broad.mit.edu	37	chr5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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)accfs		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		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T2517fs	p.T2517fs			WXS	Illumina GAIIx	Phase_I	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	84	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	13	4327										
PCDHA5	56143	broad.mit.edu	37	chr5	140202764	140202764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ttcgtgaaggagaacaacccGccaggctgccacatcttcac	9	14	2	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	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	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	56143							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			Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P	p.P468P	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			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	26	125	---	---	---	---	A	140202764	G	A	140202764	2	1	84	1	0	0	0	0	0	0	0	1	11527	1074	38	2		2	PCDHA5	5	140202764	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	108111661	140202764	40712496	14	4328										
PCDHA7	56141	broad.mit.edu	37	chr5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ccgggcggtgtgcaaattccGtggggatcttctggaggtaa	16	8	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.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_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	56141							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		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_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|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H	p.R71H	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			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	15	247	---	---	---	---	A	140214180	G	A	140214180	3	1	84	1	0	0	0	0	1	0	0	0	11529	1145	40	2	214	2	PCDHA7	5	140214180	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11416	140214180	40701080	15	4329										
FBXO38	81545	broad.mit.edu	37	chr5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	acaatgccaacatccacgacAacaatcaccatcatccagat	3	15	2	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.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		Somatic				FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H	p.N511H			WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	C	147796680	A	C	147796680	3	2	84	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	7582500	147796680	33118580	16	4330										
PKHD1	5314	broad.mit.edu	37	chr6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tgtaacatggcaccatagtcAaagttcttgaaagccaagaa	8	8	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.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		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	p.F3153L	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	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	16	209	---	---	---	---	C	51612955	A	C	51612955	3	2	84	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		51612955	119502112	17	4331										
FAM83B	222584	broad.mit.edu	37	chr6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	gttcctctttagtatttaaaCccactttacctgagcaaaag	5	10	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.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		Somatic					p.P548T	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	A	54805411	C	A	54805411	3	1	84	1	0	0	0	0	1	0	0	0	5634	507	18	3	1656	3	FAM83B	6	54805411	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	3192456	54805411	116309656	18	4332										
PDE10A	10846	broad.mit.edu	37	chr6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	cttcttgtctctgtccatcaTaggaataggctgtattccca	7	11	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.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V			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		Somatic				PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V	p.M703V			WXS	Illumina GAIIx	Phase_I	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	4	126	---	---	---	---	C	165752808	T	C	165752808	3	2	84	1	0	0	0	0	1	0	0	0	11630	1406	49	2	244	2	PDE10A	6	165752808	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	110947397	165752808	5362259	19	4333										
KLHL7	55975	broad.mit.edu	37	chr7	23207656	23207656	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ttatgatcctgccacagaaaCgtatgtatctatttaaaatt	5	7	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.chr7:23207656C>G	ENST00000339077.5	+	9	1622	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R|KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R	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																																						ENST00000339077.5																			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.(1378-1380)aCa>aGa		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			Somatic				KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R	p.T460R	NM_001031710.2	NP_001026880.2	WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			9	1622	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37	c.1379C>G	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	4	42	---	---	---	---	G	23207656	C	G	23207656	5	3	84	1	0	0	0	0	0	0	1	0	8394	550	19	4	1476	4	KLHL7	7	23207656	Splice_Site	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		23207656	135931007	20	4334										
ERLIN2	11160	broad.mit.edu	37	chr8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tccaatagtggtggtgtgatGatctactttgacagaattga	11	5	1	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.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_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		Somatic				ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I	p.M83I	NM_007175.6	NP_009106.1	WXS	Illumina GAIIx	Phase_I	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	18	257	---	---	---	---	A	37601885	G	A	37601885	3	1	84	1	0	0	0	0	1	0	0	0	5233	1290	45	2	263	2	ERLIN2	8	37601885	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		37601885	108762137	21	4335										
ERLIN2	11160	broad.mit.edu	37	chr8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_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		Somatic				ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N	p.D102N	NM_007175.6	NP_009106.1	WXS	Illumina GAIIx	Phase_I	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	11	115	---	---	---	---	A	37602094	G	A	37602094	3	1	84	1	0	0	0	0	1	0	0	0	5233	1290	45	2	322	2	ERLIN2	8	37602094	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	209	37602094	108761928	22	4336	7	2								
ERLIN2	11160	broad.mit.edu	37	chr8	37602102	37602102	+	Silent	SNP	G	G	A													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_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			Somatic				ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V	p.V104V	NM_007175.6	NP_009106.1	WXS	Illumina GAIIx	Phase_I	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	10	120	---	---	---	---	A	37602102	G	A	37602102	2	1	84	1	0	0	0	0	0	0	0	1	5233	1277	45	2		2	ERLIN2	8	37602102	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8	37602102	108761920	23	4337	7	2								
ERLIN2	11160	broad.mit.edu	37	chr8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	cccgggagaaggcaaaggcaGatgctgagtgctacactgct	14	10	0	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.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		Somatic				ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	p.D259H	NM_007175.6	NP_009106.1	WXS	Illumina GAIIx	Phase_I	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	3	54	---	---	---	---	C	37611003	G	C	37611003	3	2	84	1	0	0	0	0	1	0	0	0	5233	942	33	4	852	4	ERLIN2	8	37611003	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8901	37611003	108753019	24	4338										
VCPIP1	80124	broad.mit.edu	37	chr8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_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	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)actgggfs		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		Somatic					p.G334fs	NM_025054.4	NP_079330.2	WXS	Illumina GAIIx	Phase_I	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	84	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	25	4339										
ADCY8	114	broad.mit.edu	37	chr8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ttctgtttccccacgatattAtcaaagggcagttcagggct	9	10	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.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)	Somatic				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	p.D630E	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	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	10	73	---	---	---	---	T	131916039	A	T	131916039	3	4	84	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	26	4340										
DAPK1	1612	broad.mit.edu	37	chr9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	atattcaaatactacagttgCtcattaaaagaggctcgaga	7	7	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.chr9:90261436C>G	ENST00000408954.3	+	13	1527	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V|DAPK1_ENST00000469640.2_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		Somatic				DAPK1_ENST00000408954.3_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	p.L398V			WXS	Illumina GAIIx	Phase_I	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	14	58	---	---	---	---	G	90261436	C	G	90261436	3	3	84	1	0	0	0	0	1	0	0	0	4235	797	28	4	1238	4	DAPK1	9	90261436	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		90261436	50951995	27	4341										
DIP2C	22982	broad.mit.edu	37	chr10	323440	323440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ccacgttggtcaccaagggaAccaggtccaaggcttcttgt	11	12	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.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		Somatic					p.V1499A	NM_014974.2	NP_055789.1	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	G	323440	A	G	323440	3	3	84	1	0	0	0	0	1	0	0	0	4529	43	2	2	178	2	DIP2C	10	323440	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		323440	135211307	28	4342										
ZEB1	6935	broad.mit.edu	37	chr10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	agccacctttaaagaacctcTtgtctctcctaaaagcatat	4	12	2	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.chr10:31810040T>A	ENST00000320985.10	+	7	1887	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M	ZEB1_ENST00000446923.2_Missense_Mutation_p.L577M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000559858.1_3'UTR			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		Somatic				ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000559858.1_3'UTR	p.L577M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	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	8	84	---	---	---	---	A	31810040	T	A	31810040	3	1	84	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	29	4343										
PLAU	414236	broad.mit.edu	37	chr10	75673797	75673797	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tcgctcaaggcttaactccaAcacgcaaggggagatgaagt	11	10	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.chr10:75673797A>G	ENST00000409178.1	-	3	268				PLAU_ENST00000446342.1_Missense_Mutation_p.N230S|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	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			Somatic				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	p.N230S	NM_001145031.1	NP_001138503	WXS	Illumina GAIIx	Phase_I	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	6	54	---	---	---	---	G	75673797	A	G	75673797	1	3	84	0	1	0	0	0	0	0	0	0	12022	43	2	2		2	PLAU	10	75673797	Intron	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	43863757	75673797	59860950	30	4344										
HBE1	3046	broad.mit.edu	37	chr11	5289795	5289795	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	aactccttgccaaagtgagtAgccagaataatcaccatcac	6	12	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.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A116A			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			Somatic				HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron	p.A116A			WXS	Illumina GAIIx	Phase_I	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	19	135	---	---	---	---	T	5289795	A	T	5289795	2	4	84	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		5289795	129716721	31	4345										
SLC5A12	159963	broad.mit.edu	37	chr11	26743040	26743040	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	aaggatgccccaaagcggtaGacttcagaaggggtccccag	13	11	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.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			Somatic				SLC5A12_ENST00000280467.6_Silent_p.V74V	p.V74V	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	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	7	74	---	---	---	---	T	26743040	G	T	26743040	2	4	84	1	0	0	0	0	0	0	0	1	14664	929	33	3		3	SLC5A12	11	26743040	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21453245	26743040	108263476	32	4346										
PTPRJ	5795	broad.mit.edu	37	chr11	48161138	48161138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ggcgccaatgcaggctttgaGctggaggtcagcagtggagc	17	9	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			Somatic					p.E751E	NM_002843.3	NP_002834.3	WXS	Illumina GAIIx	Phase_I	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	5	53	---	---	---	---	A	48161138	G	A	48161138	2	1	84	1	0	0	0	0	0	0	0	1	12804	962	34	2		2	PTPRJ	11	48161138	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21418098	48161138	86845378	33	4347										
OR5AS1	219447	broad.mit.edu	37	chr11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tggtaatatttatttcttacTtctgcatcctcatcactgtg	5	9	4	0	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		Somatic					p.F219I	NM_001001921.1	NP_001001921.1	WXS	Illumina GAIIx	Phase_I	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	13	189	---	---	---	---	A	55798549	T	A	55798549	3	1	84	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	34	4348										
FAM111A	63901	broad.mit.edu	37	chr11	58919681	58919681	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	caggacaaagcatcgactgaAtgtgtcaaattttacattca	7	8	2	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.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_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			Somatic				FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E	p.E180E			WXS	Illumina GAIIx	Phase_I	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	16	90	---	---	---	---	G	58919681	A	G	58919681	2	3	84	1	0	0	0	0	0	0	0	1	5399	98	4	2		2	FAM111A	11	58919681	Silent	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	3121132	58919681	76086835	35	4349										
GLB1L3	112937	broad.mit.edu	37	chr11	134181019	134181019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	gtgtatccccccgtgagaccGtcgctgtacctcccgctgtg	11	16	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.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			Somatic					p.P414P	NM_001080407.2	NP_001073876.2	WXS	Illumina GAIIx	Phase_I	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	22	364	---	---	---	---	A	134181019	G	A	134181019	2	1	84	1	0	0	0	0	0	0	0	1	6430	1132	40	2		2	GLB1L3	11	134181019	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	75261338	134181019	825497	36	4350										
STAB2	55576	broad.mit.edu	37	chr12	104107521	104107521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tgcacgtgcaaagcaggctaCacgggtgatggcattgtgtg	15	8	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.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			Somatic					p.Y1504Y	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	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	19	203	---	---	---	---	T	104107521	C	T	104107521	2	4	84	1	0	0	0	0	0	0	0	1	15237	489	17	2		2	STAB2	12	104107521	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		104107521	29744374	37	4351										
OR5AU1	390445	broad.mit.edu	37	chr14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ccttctgaagatgagtcttaTtgagggcatttggctttgca	11	7	2	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.chr14:21624148T>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		Somatic					p.I13V	NM_001004731.1	NP_001004731.1	WXS	Illumina GAIIx	Phase_I	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	12	148	---	---	---	---	C	21624148	T	C	21624148	3	2	84	1	0	0	0	0	1	0	0	0	11147	1493	52	2	1054	2	OR5AU1	14	21624148	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		21624148	85725392	38	4352										
RNF31	55072	broad.mit.edu	37	chr14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ccctcaccacaccctctgtcCcaggtattattggtcctaaa	5	16	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.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T|RNF31_ENST00000382687.3_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		Somatic				RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	p.P210T	NM_017999.4	NP_060469.4	WXS	Illumina GAIIx	Phase_I	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	16	171	---	---	---	---	A	24618082	C	A	24618082	3	1	84	1	0	0	0	0	1	0	0	0	13487	623	22	1	646	1	RNF31	14	24618082	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2993934	24618082	82731458	39	4353										
RHOJ	57381	broad.mit.edu	37	chr14	63671716	63671716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ctgctgatgagctacgccaaCgacgccttcccagaggaata	10	13	0	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_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	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			Somatic				RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	p.N43N	NM_020663.4	NP_065714.1	WXS	Illumina GAIIx	Phase_I	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	7	50	---	---	---	---	T	63671716	C	T	63671716	2	4	84	1	0	0	0	0	0	0	0	1	13341	535	19	2		2	RHOJ	14	63671716	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	39053634	63671716	43677824	40	4354										
SPTB	6710	broad.mit.edu	37	chr14	65246524	65246524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ttcctccttcctaggggttcCaggaggtccaggaaccgctt	11	13	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.chr14:65246524C>T	ENST00000389721.5	-	20	4424	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_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			Somatic				SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L	p.L1464L	NM_001024858.2	NP_001020029.1	WXS	Illumina GAIIx	Phase_I	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	6	133	---	---	---	---	T	65246524	C	T	65246524	2	4	84	1	0	0	0	0	0	0	0	1	15117	581	21	2		2	SPTB	14	65246524	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	1574808	65246524	42103016	41	4355										
IQGAP1	8826	broad.mit.edu	37	chr15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	agacttttatgttacattatCaggtgggtatgcaccagcag	10	7	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.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*		Somatic				IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	p.Q1620*	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---	T	91040570	C	T	91040570	4	4	84	1	0	0	0	0	0	1	0	0	7814	827	29	2	5004	2	IQGAP1	15	91040570	Nonsense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		91040570	11490822	42	4356										
TP53	7157	broad.mit.edu	37	chr17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|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)aagfs	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)	Somatic				TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron	p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	84	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	43	4357										
AXIN2	8313	broad.mit.edu	37	chr17	63553974	63553974	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ctcacactcgccgtggccctCagagttttgctggacaagcc	10	15	2	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.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			Somatic				AXIN2_ENST00000375702.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.L255L	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	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	5	98	---	---	---	---	G	63553974	C	G	63553974	2	3	84	1	0	0	0	0	0	0	0	1	1237	813	29	4		4	AXIN2	17	63553974	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	55977084	63553974	17641236	44	4358										
KIAA1543	57662	broad.mit.edu	37	chr19	7682254	7682254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	atgtccccaagccgcctgccTggaagccgcgaacgggactg	13	15	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.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			Somatic				CAMSAP3_ENST00000160298.4_Silent_p.P1085P	p.P1112P	NM_001080429.2	NP_001073898.1	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	C	7682254	T	C	7682254	2	2	84	1	0	0	0	0	0	0	0	1	8243	1567	55	2		2	KIAA1543	19	7682254	Silent	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		7682254	51446729	45	4359										
KANK2	25959	broad.mit.edu	37	chr19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	tctcgatgtcatccacgtacTtgaggaagtccaggtccagg	11	11	2	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.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_ENST00000432929.2_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_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		Somatic				KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000586659.1_Missense_Mutation_p.K48R	p.K48R	NM_001136191.2	NP_001129663.1	WXS	Illumina GAIIx	Phase_I	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	17	52	---	---	---	---	C	11304613	T	C	11304613	3	2	84	1	0	0	0	0	1	0	0	0	7977	1609	56	2	2476	2	KANK2	19	11304613	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	3622359	11304613	47824370	46	4360										
ZNF443	10224	broad.mit.edu	37	chr19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	catgtacctttaagttatcaTaatgaccgaaggctttccta	6	9	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.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		Somatic				CTD-3105H18.16_ENST00000595562.1_Intron	p.Y544F	NM_005815.4	NP_005806	WXS	Illumina GAIIx	Phase_I	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	9	60	---	---	---	---	A	12541355	T	A	12541355	3	1	84	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	47	4361										
PCSK2	5126	broad.mit.edu	37	chr20	17436993	17436993	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	ctcattatcttcccttccagGcaaccacagatttgtacggc	6	14	2	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.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	PCSK2_ENST00000536609.1_Splice_Site_p.A333T|PCSK2_ENST00000377899.1_Splice_Site_p.A349T	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.(1102-1104)Gca>Aca		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			Somatic				PCSK2_ENST00000536609.1_Splice_Site_p.A333T|PCSK2_ENST00000377899.1_Splice_Site_p.A349T	p.A368T	NM_002594.3	NP_002585.2	WXS	Illumina GAIIx	Phase_I	P16519	NEC2_HUMAN			10	1417	+			368			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1102G>A	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	15	180	---	---	---	---	A	17436993	G	A	17436993	5	1	84	1	0	0	0	0	0	0	1	0	11601	1217	42	2	1140	2	PCSK2	20	17436993	Splice_Site	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		17436993	45588527	48	4362										
MN1	4330	broad.mit.edu	37	chr22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	gttcgcccagcgcgctcataGcaggatccacagggccaggg	14	14	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.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		Somatic					p.A51V	NM_002430.2	NP_002421.3	WXS	Illumina GAIIx	Phase_I	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	6	81	---	---	---	---	A	28196380	G	A	28196380	3	1	84	1	0	0	0	0	1	0	0	0	9673	971	34	2	3818	2	MN1	22	28196380	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		28196380	23108186	49	4363										
SEC14L3	266629	broad.mit.edu	37	chr22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	agtggataggtctcaccttgCggagcaaagcctccgacttc	11	12	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.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000540910.1_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		Somatic				SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	p.R57H	NM_174975.4	NP_777635.1	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	T	30866203	C	T	30866203	3	4	84	1	0	0	0	0	1	0	0	0	13983	768	27	2	1072	2	SEC14L3	22	30866203	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2669823	30866203	20438363	50	4364										
ZC3H7B	23264	broad.mit.edu	37	chr22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	gcccctgttccctcacgttcTggacctgctggcccccctgg	10	19	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.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		Somatic				ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	p.L234R	NM_017590.4	NP_060060.3	WXS	Illumina GAIIx	Phase_I	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	64	133	---	---	---	---	G	41735080	T	G	41735080	3	3	84	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	51	4365										
NHS	4810	broad.mit.edu	37	chrX	17750102	17750102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	cttcacccagcagtaatgtgAcaacccccaacagccagagg	8	15	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.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		Somatic				NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	p.T1471A	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	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	14	82	---	---	---	---	G	17750102	A	G	17750102	3	3	84	1	0	0	0	0	1	0	0	0	10411	275	10	2	4546	2	NHS	23	17750102	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		17750102	137520458	52	4366										
GABRE	2564	broad.mit.edu	37	chrX	151124292	151124292	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	aaggcaacatagccaaaccgCctgctcacattgaagaaaat	7	11	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.chrX:151124292C>G	ENST00000370328.3	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	MIR224_ENST00000384889.1_RNA|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R275S	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		Somatic				GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR	p.R275S			WXS	Illumina GAIIx	Phase_I	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	13	50	---	---	---	---	G	151124292	C	G	151124292	3	3	84	1	0	0	0	0	1	0	0	0	6170	738	26	4	707	4	GABRE	23	151124292	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	133374190	151124292	4146268	53	4367										
BRCC3	79184	broad.mit.edu	37	chrX	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-													0.113207547169811	6	0.930579858446434	1.91717171717172	3.51481481481481	1.0042328042328	0.592074592074592	1	0	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	BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs	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)ttafs		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		Somatic				MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs	p.L80fs	NM_024332.3	NP_077308.1	WXS	Illumina GAIIx	Phase_I	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	84	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	54	4368										
MEGF6	1953	broad.mit.edu	37	chr1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cactgagccggtagccggcgTagcagccgcactcgtacccg	13	16	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.chr1:3427388T>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		Somatic				MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	p.Y398C	NM_001409.3	NP_001400.3	WXS	Illumina GAIIx	Phase_I	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	4	28	---	---	---	---	C	3427388	T	C	3427388	3	2	85	1	0	0	0	0	1	0	0	0	9462	1638	57	2	3544	2	MEGF6	1	3427388	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08		3427388	245823233	1	4369										
TAS1R1	80835	broad.mit.edu	37	chr1	6634741	6634741	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agcgtgaagcggcagtatccCtctttcctgcgcaccatccc	9	16	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.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	80835				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			Somatic				TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	p.P183P	NM_138697.3	NP_619642.2	WXS	Illumina GAIIx	Phase_I	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	23	34	---	---	---	---	A	6634741	C	A	6634741	2	1	85	1	0	0	0	0	0	0	0	1	15559	668	24	1		1	TAS1R1	1	6634741	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3207353	6634741	242615880	2	4370										
ARHGEF19	128272	broad.mit.edu	37	chr1	16534048	16534048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aatcgagactggcgccgctcGttggtgctcctggaccccaa	12	14	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.chr1:16534048G>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			Somatic					p.N281N	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	A	16534048	G	A	16534048	2	1	85	1	0	0	0	0	0	0	0	1	902	1136	40	2		2	ARHGEF19	1	16534048	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9899307	16534048	232716573	3	4371										
TRIM62	55223	broad.mit.edu	37	chr1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tagtccaggaagacacccacCttgtcaagcttgtcccggac	9	14	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.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		Somatic				TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	p.K415N	NM_018207.2	NP_060677.2	WXS	Illumina GAIIx	Phase_I	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	12	50	---	---	---	---	A	33612961	C	A	33612961	3	1	85	1	0	0	0	0	1	0	0	0	16534	680	24	1	186	1	TRIM62	1	33612961	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17078913	33612961	215637660	4	4372										
NASP	4678	broad.mit.edu	37	chr1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagaggcctcagctgtagagGctggatcagaagtctctgaa	13	9	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.chr1:46073658G>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		Somatic				NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000372052.4_Intron	p.A359T	NM_002482.3	NP_002473.2	WXS	Illumina GAIIx	Phase_I	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	28	81	---	---	---	---	A	46073658	G	A	46073658	3	1	85	1	0	0	0	0	1	0	0	0	10172	1203	42	2	1174	2	NASP	1	46073658	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12460697	46073658	203176963	5	4373										
FAM73A	374986	broad.mit.edu	37	chr1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gatcccagatggattttttgCccatttttatgccatttgtg	8	8	0	1	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		Somatic				FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	p.A528V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	WXS	Illumina GAIIx	Phase_I	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	23	90	---	---	---	---	T	78338708	C	T	78338708	3	4	85	1	0	0	0	0	1	0	0	0	5617	739	26	2	1641	2	FAM73A	1	78338708	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	32265050	78338708	170911913	6	4374										
CLCA1	1179	broad.mit.edu	37	chr1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcacaggtagggcatttgtcCatgagtgggctcatctacga	12	9	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.chr1:86942145C>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		Somatic				CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y	p.H156Y			WXS	Illumina GAIIx	Phase_I	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	9	28	---	---	---	---	T	86942145	C	T	86942145	3	4	85	1	0	0	0	0	1	0	0	0	3457	594	21	2	480	2	CLCA1	1	86942145	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8603437	86942145	162308476	7	4375										
AMPD2	271	broad.mit.edu	37	chr1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gtaccaagggccagctggccAacttccaggagatgctggag	14	11	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.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D	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		Somatic				RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D	p.N589D	NM_004037.7	NP_004028.3	WXS	Illumina GAIIx	Phase_I	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	13	21	---	---	---	---	G	110171762	A	G	110171762	3	3	85	1	0	0	0	0	1	0	0	0	586	130	5	2	1856	2	AMPD2	1	110171762	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	23229617	110171762	139078859	8	4376										
ALX3	257	broad.mit.edu	37	chr1	110603475	110603475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctgtggccccccagggtgggGggaaagccatggatggagta	18	9	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.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_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			Somatic				RP4-773N10.4_ENST00000554749.1_RNA	p.P304P	NM_006492.2	NP_006483.2	WXS	Illumina GAIIx	Phase_I	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	6	31	---	---	---	---	A	110603475	G	A	110603475	2	1	85	1	0	0	0	0	0	0	0	1	557	1219	43	2		2	ALX3	1	110603475	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	431713	110603475	138647146	9	4377										
CAPZA1	829	broad.mit.edu	37	chr1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agatggaggtctgaagtcttGgagagaatcctgtgacagtg	15	5	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.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		Somatic				CAPZA1_ENST00000476936.1_Intron	p.W120L	NM_006135.2	NP_006126.1	WXS	Illumina GAIIx	Phase_I	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	9	91	---	---	---	---	T	113197226	G	T	113197226	3	4	85	1	0	0	0	0	1	0	0	0	2640	1357	47	1	377	1	CAPZA1	1	113197226	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2593751	113197226	136053395	10	4378										
PTGFRN	5738	broad.mit.edu	37	chr1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggtcctatatttaatgcttCtgtgcattcagacacaccat	6	10	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.chr1:117516856C>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		Somatic				PTGFRN_ENST00000496699.1_3'UTR	p.S693Y	NM_020440.2	NP_065173.2	WXS	Illumina GAIIx	Phase_I	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	32	61	---	---	---	---	A	117516856	C	A	117516856	3	1	85	1	0	0	0	0	1	0	0	0	12750	913	32	3	2104	3	PTGFRN	1	117516856	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4319630	117516856	131733765	11	4379										
S100A4	6275	broad.mit.edu	37	chr1	153516337	153516337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tactcttggaagtccacctcGttgtccctgttgctgtccaa	8	13	1	0	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_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368714.1_Silent_p.N68N|S100A5_ENST00000368718.1_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			Somatic				S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR	p.N68N	NM_002961.2	NP_002952.1	WXS	Illumina GAIIx	Phase_I	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	14	128	---	---	---	---	A	153516337	G	A	153516337	2	1	85	1	0	0	0	0	0	0	0	1	13780	1136	40	2		2	S100A4	1	153516337	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	35999481	153516337	95734284	12	4380										
C1orf43	25912	broad.mit.edu	37	chr1	154179947	154179947	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgtcacagagtactctccaaTgtgttatagttatccttaaa	6	9	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.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000362076.4_Silent_p.T196T	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	29	61	---	---	---	---	A	154179947	T	A	154179947	2	1	85	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	13	4381										
LMNA	4000	broad.mit.edu	37	chr1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs	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)aagfs		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		Somatic				LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs	p.K181fs	NM_170707.3	NP_733821.1	WXS	Illumina GAIIx	Phase_I	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	85	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	14	4382										
CCDC19	25790	broad.mit.edu	37	chr1	159860404	159860404	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gggctgtcgctctggccctgGgctggggactatgagttcag	17	10	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.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	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)			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			Somatic				CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	p.A46A	NM_012337.2	NP_036469.2	WXS	Illumina GAIIx	Phase_I	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	4	55	---	---	---	---	C	159860404	G	C	159860404	2	2	85	1	0	0	0	0	0	0	0	1	2795	1219	43	4		4	CCDC19	1	159860404	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3756186	159860404	89390217	15	4383										
NCSTN	23385	broad.mit.edu	37	chr1	160314573	160314573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cccttaaataaaacagctccCtgtgttcgcctgctcaacgc	6	15	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.chr1:160314573C>A	ENST00000294785.5	+	2	272	c.147C>A	c.(145-147)ccC>ccA	p.P49P	COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000368063.1_Silent_p.P29P|COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_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			Somatic				NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000294785.5_Silent_p.P49P	p.P29P			WXS	Illumina GAIIx	Phase_I	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	4	23	---	---	---	---	A	160314573	C	A	160314573	2	1	85	1	0	0	0	0	0	0	0	1	10241	668	24	1		1	NCSTN	1	160314573	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	454169	160314573	88936048	16	4384										
C1orf26	54823	broad.mit.edu	37	chr1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acaggggatggtgtgaagacAtgctcaactataggatataa	12	5	1	2	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		Somatic				SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	p.M895V	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	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	11	16	---	---	---	---	G	185259915	A	G	185259915	3	3	85	1	0	0	0	0	1	0	0	0	2035	217	8	2	2753	2	C1orf26	1	185259915	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	24945342	185259915	63990706	17	4385										
HMCN1	83872	broad.mit.edu	37	chr1	186009011	186009011	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agtttttctaatggattacaGgtaccttcattcatttcttt	5	7	4	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.chr1:186009011G>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.(6178-6180)caG>caA		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			Somatic				HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	p.Q2060Q	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			39	6409	+			2060			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.6180G>A	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	31	10	31	---	---	---	---	A	186009011	G	A	186009011	5	1	85	1	0	0	0	0	0	0	1	0	7220	1014	35	2	6334	2	HMCN1	1	186009011	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	749096	186009011	63241610	18	4386										
PRG4	10216	broad.mit.edu	37	chr1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttccttaaattttaggtcatTatttctggatgctaagtcca	6	7	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.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H	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		Somatic				PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H	p.Y1169H	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	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	15	40	---	---	---	---	C	186280171	T	C	186280171	3	2	85	1	0	0	0	0	1	0	0	0	12481	1754	61	2	3535	2	PRG4	1	186280171	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	271160	186280171	62970450	19	4387										
EPHX1	2052	broad.mit.edu	37	chr1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	caggagccatgtggctagaaAtcctcctcacttcagtgctg	10	12	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.chr1:226016443A>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		Somatic				EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	p.I5V	NM_000120.3	NP_000111.1	WXS	Illumina GAIIx	Phase_I	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	4	19	---	---	---	---	G	226016443	A	G	226016443	3	3	85	1	0	0	0	0	1	0	0	0	5179	101	4	2	15	2	EPHX1	1	226016443	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	39736272	226016443	23234178	20	4388										
TTC13	79573	broad.mit.edu	37	chr1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atattctaggtatctcatgtTgatcacctgacccctataag	6	10	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.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_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		Somatic				TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	p.N610D	NM_024525.4	NP_078801.3	WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	C	231057237	T	C	231057237	3	2	85	1	0	0	0	0	1	0	0	0	16677	1812	63	2	786	2	TTC13	1	231057237	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5040794	231057237	18193384	21	4389										
C1orf101	257044	broad.mit.edu	37	chr1	244724125	244724125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctgaccatagacagggttgaGtatacaggacaccctctgga	11	10	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.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.E244E	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	25	51	---	---	---	---	A	244724125	G	A	244724125	2	1	85	1	0	0	0	0	0	0	0	1	1976	1020	36	2		2	C1orf101	1	244724125	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13666888	244724125	4526496	22	4390										
OR2M2	391194	broad.mit.edu	37	chr1	248343968	248343968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gttattctggctgtcattcaCatgggatctggagagggtcg	14	7	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.chr1:248343968C>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			Somatic					p.H227H	NM_001004688.1	NP_001004688.1	WXS	Illumina GAIIx	Phase_I	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	9	167	---	---	---	---	T	248343968	C	T	248343968	2	4	85	1	0	0	0	0	0	0	0	1	11010	477	17	2		2	OR2M2	1	248343968	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3619843	248343968	906653	23	4391										
OR2T27	403239	broad.mit.edu	37	chr1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	caggatagtgcagagggttgCagatggctacgtagcgatca	15	7	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.chr1:248813806C>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		Somatic					p.C127F	NM_001001824.1	NP_001001824.1	WXS	Illumina GAIIx	Phase_I	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	14	117	---	---	---	---	A	248813806	C	A	248813806	3	1	85	1	0	0	0	0	1	0	0	0	11021	710	25	3	576	3	OR2T27	1	248813806	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	469838	248813806	436815	24	4392										
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)tttfs		piggyBac transposable element derived 2							112	116	115					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	267002							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		Somatic				PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	p.F99fs	NM_001017434.1	NP_001017434.1	WXS	Illumina GAIIx	Phase_I	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	85	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	25	4393										
MSH2	4436	broad.mit.edu	37	chr2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000543555.1_Frame_Shift_Ins_p.K471fs|MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K537fs	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.(1609-1611)aaafs	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		Somatic				MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	p.K537fs			WXS	Illumina GAIIx	Phase_I	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)	537					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	85	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		47693894	195505479	26	4394										
APLF	200558	broad.mit.edu	37	chr2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcaggtggtcagctgcgaaTcaaaccggtaaatatgttat	12	7	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.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		Somatic					p.I54T	NM_173545.2	NP_775816.1	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	C	68717386	T	C	68717386	3	2	85	1	0	0	0	0	1	0	0	0	776	1435	50	2	167	2	APLF	2	68717386	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	21023492	68717386	174481987	27	4395										
DNAH6	1768	broad.mit.edu	37	chr2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	catttaggaaaccattcaggCcgcatttgaatcagcccgca	8	12	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.chr2:84800604C>T	ENST00000237449.6	+	11	1825	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000389394.3_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_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		Somatic				DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V	p.A606V	NM_001370.1	NP_001361.1	WXS	Illumina GAIIx	Phase_I	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	8	54	---	---	---	---	T	84800604	C	T	84800604	3	4	85	1	0	0	0	0	1	0	0	0	4605	739	26	2	1859	2	DNAH6	2	84800604	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16083218	84800604	158398769	28	4396										
TMEM131	23505	broad.mit.edu	37	chr2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tctatctttgccaccttactCaagttaaacctaaaacaaaa	2	11	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.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		Somatic					p.L887F	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	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	10	15	---	---	---	---	G	98418415	C	G	98418415	3	3	85	1	0	0	0	0	1	0	0	0	16041	825	29	4	3058	4	TMEM131	2	98418415	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13617811	98418415	144780958	29	4397										
EPB41L5	57669	broad.mit.edu	37	chr2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcttccgtagaacactagggCgtcggtctatgcgtaaacat	10	10	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.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_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		Somatic				EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	p.R11C	NM_020909.3	NP_065960.2	WXS	Illumina GAIIx	Phase_I	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	10	124	---	---	---	---	T	120776691	C	T	120776691	3	4	85	1	0	0	0	0	1	0	0	0	5157	768	27	2	33	2	EPB41L5	2	120776691	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	22358276	120776691	122422682	30	4398										
GLI2	2736	broad.mit.edu	37	chr2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gcaggccccctgccctcagcGgcagccctgtcatctctgac	10	19	3	1	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		Somatic				GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S	p.G91S			WXS	Illumina GAIIx	Phase_I	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	7	115	---	---	---	---	A	121708835	G	A	121708835	3	1	85	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	31	4399										
ACVR2A	92	broad.mit.edu	37	chr2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agttggcgtttgccgtctttCttatctcctgttcttcaggt	9	10	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	23	---	---	---	---	G	148602758	C	G	148602758	3	3	85	1	0	0	0	0	1	0	0	0	223	913	32	4	39	4	ACVR2A	2	148602758	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	26893923	148602758	94596615	32	4400										
SLC38A11	151258	broad.mit.edu	37	chr2	165809221	165809221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttatatagtattttacctgtAacatatgaaacccagaataa	4	6	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.chr2:165809221A>G	ENST00000409149.3	-	2	348	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000303735.4_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|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			Somatic				SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Silent_p.V19V	p.V19V	NM_173512.2	NP_775783.1	WXS	Illumina GAIIx	Phase_I	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	5	29	---	---	---	---	G	165809221	A	G	165809221	2	3	85	1	0	0	0	0	0	0	0	1	14603	349	13	2		2	SLC38A11	2	165809221	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	17206463	165809221	77390152	33	4401										
TTN	7273	broad.mit.edu	37	chr2	179440959	179440959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgaagatcaggaacaacgaaCtgagtgattctgagggcggt	14	6	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.chr2:179440959C>T	ENST00000591111.1	-	276	65201	c.64977G>A	c.(64975-64977)caG>caA	p.Q21659Q	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.Q23300Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_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			Somatic				TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.Q23300Q	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	5	32	---	---	---	---	T	179440959	C	T	179440959	2	4	85	1	0	0	0	0	0	0	0	1	16732	564	20	2		2	TTN	2	179440959	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13631738	179440959	63758414	34	4402										
PARD3B	117583	broad.mit.edu	37	chr2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccaggattcccggcagaagaAccccatgactgcagccgtat	10	14	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.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S	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		Somatic				PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000488622.1_3'UTR	p.N1199S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	WXS	Illumina GAIIx	Phase_I	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	10	41	---	---	---	---	G	206480515	A	G	206480515	3	3	85	1	0	0	0	0	1	0	0	0	11444	43	2	2	3686	2	PARD3B	2	206480515	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	27039556	206480515	36718858	35	4403										
INHA	3623	broad.mit.edu	37	chr2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctcaactcccctgatgtcctGgccttggtctccctctgctc	7	18	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.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*		Somatic					p.W239*	NM_002191.3	NP_002182.1	WXS	Illumina GAIIx	Phase_I	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	18	45	---	---	---	---	A	220439863	G	A	220439863	4	1	85	1	0	0	0	0	0	1	0	0	7740	1357	47	2	722	2	INHA	2	220439863	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13959348	220439863	22759510	36	4404										
SAG	6295	broad.mit.edu	37	chr2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttgagatgggtccccagcccCgagctgaggcggcctggcag	16	13	0	2	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*		Somatic				SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	p.R193*	NM_000541.4	NP_000532.2	WXS	Illumina GAIIx	Phase_I	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	15	45	---	---	---	---	T	234237188	C	T	234237188	4	4	85	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	37	4405										
DGKD	8527	broad.mit.edu	37	chr2	234371288	234371288	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tatttgcctggtttcttctaGgggctcaactgcagcttcgt	10	10	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.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			Somatic				DGKD_ENST00000409813.3_Splice_Site		NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	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	8	113	---	---	---	---	T	234371288	G	T	234371288	5	4	85	1	0	0	0	0	0	0	1	0	4467	1014	35	1	3219	1	DGKD	2	234371288	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	134100	234371288	8828085	38	4406										
KLHL30	377007	broad.mit.edu	37	chr2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagcagcccctacttccatgCcatgtttgcgggtgacttcg	10	14	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.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		Somatic				KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V	p.A60V			WXS	Illumina GAIIx	Phase_I	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	22	47	---	---	---	---	T	239049574	C	T	239049574	3	4	85	1	0	0	0	0	1	0	0	0	8384	739	26	2	181	2	KLHL30	2	239049574	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4678286	239049574	4149799	39	4407										
ITPR1	3708	broad.mit.edu	37	chr3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tttgttgtatctggtgatctGtgccatggggctctttgtcc	12	8	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.chr3:4847908G>A	ENST00000443694.2	+	52	7184	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000302640.8_Missense_Mutation_p.C2395Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|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		Somatic				ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y	p.C2395Y	NM_001168272.1	NP_001161744.1	WXS	Illumina GAIIx	Phase_I	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	12	37	---	---	---	---	A	4847908	G	A	4847908	3	1	85	1	0	0	0	0	1	0	0	0	7920	1377	48	2	7439	2	ITPR1	3	4847908	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		4847908	193174522	40	4408										
TADA3	10474	broad.mit.edu	37	chr3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cttcttggtgcggttgtgggCactaagtgccttcagctcag	13	10	3	0	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		Somatic				TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	p.A358T	NM_133480.1	NP_597814.1	WXS	Illumina GAIIx	Phase_I	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	5	20	---	---	---	---	T	9825746	C	T	9825746	3	4	85	1	0	0	0	0	1	0	0	0	15509	710	25	2	238	2	TADA3	3	9825746	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4977838	9825746	188196684	41	4409										
ATP2B2	491	broad.mit.edu	37	chr3	10429962	10429962	+	Splice_Site	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs|ATP2B2_ENST00000397077.1_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.(904-906)aaa>aa		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			Somatic				ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000352432.4_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs	p.K302fs			WXS	Illumina GAIIx	Phase_I	Q01814	AT2B2_HUMAN			8	1481	-			302					O00766|Q12994|Q16818	Splice_Site	DEL	ENST00000352432.4	37	c.906delA	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	85	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	604216	10429962	187592468	42	4410										
TOP2B	7155	broad.mit.edu	37	chr3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)aacfs		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		Somatic				TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs	p.N374fs			WXS	Illumina GAIIx	Phase_I	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	85	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	15244105	25674067	172348363	43	4411										
OSBPL10	114884	broad.mit.edu	37	chr3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gttgcttctcctccaggtgcCgcttctgctcggtggctgcg	13	14	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.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		Somatic				OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	p.R722Q	NM_017784.4	NP_060254.2	WXS	Illumina GAIIx	Phase_I	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	6	66	---	---	---	---	T	31705656	C	T	31705656	3	4	85	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	44	4412										
VILL	50853	broad.mit.edu	37	chr3	38038579	38038579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctctggcaggtggagctctcCtggaacagctttaataaggg	13	9	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.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron			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			Somatic	OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron	p.S154S			WXS	Illumina GAIIx	Phase_I	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	6	71	---	---	---	---	A	38038579	C	A	38038579	2	1	85	1	0	0	0	0	0	0	0	1	17162	668	24	1		1	VILL	3	38038579	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6332923	38038579	159983851	45	4413										
LARS2	23395	broad.mit.edu	37	chr3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agctgaggccaggaagctctGggagtacaagaactccgtca	13	10	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.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L			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		Somatic				LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L	p.W729L			WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	T	45559536	G	T	45559536	3	4	85	1	0	0	0	0	1	0	0	0	8635	1357	47	1	2248	1	LARS2	3	45559536	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7520957	45559536	152462894	46	4414										
GMPPB	29925	broad.mit.edu	37	chr3	49759676	49759676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcctcaccaccagcacgttGcccacaatgccagggcctga	10	17	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|GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_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			Somatic				GMPPB_ENST00000308375.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.G252G	p.G252G			WXS	Illumina GAIIx	Phase_I	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	6	46	---	---	---	---	A	49759676	G	A	49759676	2	1	85	1	0	0	0	0	0	0	0	1	6495	1306	46	2		2	GMPPB	3	49759676	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4200140	49759676	148262754	47	4415										
NISCH	11188	broad.mit.edu	37	chr3	52526219	52526219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cggctggacgatggccgccgCgtccgggacctggaccgagt	17	14	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			Somatic				NISCH_ENST00000479054.1_Silent_p.R1412R	p.R1412R	NM_007184.3	NP_009115	WXS	Illumina GAIIx	Phase_I	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	18	62	---	---	---	---	T	52526219	C	T	52526219	2	4	85	1	0	0	0	0	0	0	0	1	10432	755	27	2		2	NISCH	3	52526219	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2766543	52526219	145496211	48	4416										
C3orf63	23272	broad.mit.edu	37	chr3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agaacttacaagtaactatgCttctaggttcttgaaataga	7	6	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.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		Somatic				FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	p.S105N	NM_015224.3	NP_056039.2	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	T	56682861	C	T	56682861	3	4	85	1	0	0	0	0	1	0	0	0	2239	797	28	2	3618	2	C3orf63	3	56682861	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4156642	56682861	141339569	49	4417										
ALCAM	214	broad.mit.edu	37	chr3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttccctgatagacaaaaaaaGcatgattgcttcaacagcta	6	9	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.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000389927.4_Intron	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		Somatic				ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR	p.S320N	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	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	9	74	---	---	---	---	A	105260577	G	A	105260577	3	1	85	1	0	0	0	0	1	0	0	0	487	971	34	2	989	2	ALCAM	3	105260577	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	48577716	105260577	92761853	50	4418										
SNX4	8723	broad.mit.edu	37	chr3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tttgcacatactgatctgcaTgactgcatagcttatgaggg	10	8	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.chr3:125170172T>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		Somatic				SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	p.M428V	NM_003794.2	NP_003785.1	WXS	Illumina GAIIx	Phase_I	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	19	138	---	---	---	---	C	125170172	T	C	125170172	3	2	85	1	0	0	0	0	1	0	0	0	14904	1464	51	2	78	2	SNX4	3	125170172	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	19909595	125170172	72852258	51	4419										
COL6A6	131873	broad.mit.edu	37	chr3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgactttgatgcattgaaagAcataagaaaccaagttgttc	8	6	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.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		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	p.D601V	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	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	12	36	---	---	---	---	T	130286065	A	T	130286065	3	4	85	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	5115893	130286065	67736365	52	4420										
CP	1356	broad.mit.edu	37	chr3	148924002	148924002	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gtgaagatgtctataccagaGggagcatagttccagatgat	12	6	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.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			Somatic					p.P387P	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	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	27	67	---	---	---	---	T	148924002	G	T	148924002	2	4	85	1	0	0	0	0	0	0	0	1	3787	987	35	1		1	CP	3	148924002	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18637937	148924002	49098428	53	4421										
PFN2	5217	broad.mit.edu	37	chr3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gtatgccttcttattcaatcCgcctccatggaccccttctt	5	15	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.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000494827.1_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000498307.1_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		Somatic				PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000423691.2_Intron	p.G123R			WXS	Illumina GAIIx	Phase_I	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	30	377	---	---	---	---	T	149684332	C	T	149684332	3	4	85	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	54	4422										
TIPARP	25976	broad.mit.edu	37	chr3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcaactctatttaccacacaGtctggaaattcttctgtagg	6	10	5	0	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		Somatic				TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I	p.V346I	NM_001184717.1	NP_001171646.1	WXS	Illumina GAIIx	Phase_I	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	24	46	---	---	---	---	A	156411927	G	A	156411927	3	1	85	1	0	0	0	0	1	0	0	0	15921	1029	36	2	1042	2	TIPARP	3	156411927	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6727595	156411927	41610503	55	4423										
IL12A	3592	broad.mit.edu	37	chr3	159711354	159711354	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tctgattattttttcctctaGaatgggagttgcctggcctc	9	9	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.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|IL12A_ENST00000480787.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA	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			Somatic				IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site		NM_000882.3	NP_000873.2	WXS	Illumina GAIIx	Phase_I	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	8	84	---	---	---	---	A	159711354	G	A	159711354	5	1	85	1	0	0	0	0	0	0	1	0	7624	956	33	2	438	2	IL12A	3	159711354	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3299427	159711354	38311076	56	4424										
NAALADL2	254827	broad.mit.edu	37	chr3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgcatcaaatgagacccttcAagaagccctgtcagaggtgt	10	10	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.chr3:175520891A>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		Somatic					p.Q763R	NM_207015.2	NP_996898.2	WXS	Illumina GAIIx	Phase_I	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	5	36	---	---	---	---	G	175520891	A	G	175520891	3	3	85	1	0	0	0	0	1	0	0	0	10130	130	5	2	2342	2	NAALADL2	3	175520891	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	15809537	175520891	22501539	57	4425										
PIK3CA	5290	broad.mit.edu	37	chr3	178952026	178952026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tacattcgaaagaccctagcCttagataaaactgagcaaga	7	9	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.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)	Somatic					p.A1027A	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	14	75	---	---	---	---	A	178952026	C	A	178952026	2	1	85	1	0	0	0	0	0	0	0	1	11913	668	24	1		1	PIK3CA	3	178952026	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3431135	178952026	19070404	58	4426										
LPP	4026	broad.mit.edu	37	chr3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)actcct>act		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		Somatic				LPP_ENST00000543006.1_In_Frame_Del_p.P335del|LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR	p.P335del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	WXS	Illumina GAIIx	Phase_I	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)	335			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	85	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	9375491	188327517	9694913	59	4427										
GP5	2814	broad.mit.edu	37	chr3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)agagccfs		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		Somatic				GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs	p.RA557fs			WXS	Illumina GAIIx	Phase_I	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	85	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	60	4428										
TMEM128	85013	broad.mit.edu	37	chr4	4239662	4239662	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgccataaagcaatgttgaaGctgaaaagaacaagacataa	8	6	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.chr4:4239662G>A	ENST00000382753.4	-	4	408	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TMEM128_ENST00000254742.2_Splice_Site_p.C109C|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C			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.(325-327)tgC>tgT		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			Somatic				TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000382753.4_Splice_Site_p.C133C	p.C109C	NM_032927.2	NP_116316.1	WXS	Illumina GAIIx	Phase_I	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.327C>T																																																																																					0.343	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927	Silent	8	33	8	33	---	---	---	---	A	4239662	G	A	4239662	5	1	85	1	0	0	0	0	0	0	1	0	16038	985	34	2	102	2	TMEM128	4	4239662	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		4239662	186914614	61	4429										
MAN2B2	23324	broad.mit.edu	37	chr4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gacagagtaaccgaacggtgCgcgtgacccaggaattcctg	13	11	0	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_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	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		Somatic				MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	p.R612C	NM_015274.1	NP_056089.1	WXS	Illumina GAIIx	Phase_I	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	8	17	---	---	---	---	T	6610853	C	T	6610853	3	4	85	1	0	0	0	0	1	0	0	0	9217	768	27	2	1880	2	MAN2B2	4	6610853	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2371191	6610853	184543423	62	4430										
S100P	6286	broad.mit.edu	37	chr4	6695686	6695686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gaactagagacagccatgggCatgatcatagacgtcttttc	10	9	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.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			Somatic				S100P_ENST00000513778.1_Intron	p.G9G	NM_005980.2	NP_005971.1	WXS	Illumina GAIIx	Phase_I	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	15	32	---	---	---	---	T	6695686	C	T	6695686	2	4	85	1	0	0	0	0	0	0	0	1	13790	697	25	2		2	S100P	4	6695686	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	84833	6695686	184458590	63	4431										
KCTD8	386617	broad.mit.edu	37	chr4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gggccccggggcggcggcggCcgacgcgccgggcgagctgg	23	15	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)	Somatic					p.A30T	NM_198353.2	NP_938167.1	WXS	Illumina GAIIx	Phase_I	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	4	4	---	---	---	---	T	44450453	C	T	44450453	3	4	85	1	0	0	0	0	1	0	0	0	8115	739	26	2	1341	2	KCTD8	4	44450453	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	37754767	44450453	146703823	64	4432										
POLR2B	5431	broad.mit.edu	37	chr4	57876617	57876617	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acggcaagctagcaaaaccaAgacagttgcataatacgttg	9	9	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.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R			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			Somatic				POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000510355.1_3'UTR	p.R499R			WXS	Illumina GAIIx	Phase_I	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	32	58	---	---	---	---	C	57876617	A	C	57876617	2	2	85	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	13426164	57876617	133277659	65	4433										
TMPRSS11B	132724	broad.mit.edu	37	chr4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	taaaaatctctgatttacctTagtctcaatatctttgctta	3	8	3	1	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		Somatic					p.K80E	NM_182502.3	NP_872308.2	WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	C	69101871	T	C	69101871	3	2	85	1	0	0	0	0	1	0	0	0	16237	1763	61	2	1044	2	TMPRSS11B	4	69101871	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	11225254	69101871	122052405	66	4434										
FGF5	2250	broad.mit.edu	37	chr4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gctataatacctatgcctcaGcaatacatagaactgaaaaa	5	9	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.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_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		Somatic				FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.A177S	NM_004464.3	NP_004455.2	WXS	Illumina GAIIx	Phase_I	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	6	91	---	---	---	---	T	81207548	G	T	81207548	3	4	85	1	0	0	0	0	1	0	0	0	5855	971	34	3	539	3	FGF5	4	81207548	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12105677	81207548	109946728	67	4435										
GPRIN3	285513	broad.mit.edu	37	chr4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcgcgattcccagggactctGcgtccaaggatgcaccatac	10	14	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.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																																						ENST00000609438.1																			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		Somatic				GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	p.A702G	NM_198281.2	NP_938022.2	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2623	-		Hepatocellular(203;0.114)						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	6	35	---	---	---	---	C	90169157	G	C	90169157	3	2	85	1	0	0	0	0	1	0	0	0	6731	1319	46	4	229	4	GPRIN3	4	90169157	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8961609	90169157	100985119	68	4436										
C4orf37	285555	broad.mit.edu	37	chr4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agatttccttaaaacaggatTgtatgctgcaggacctgaga	10	7	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.chr4:98633951T>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		Somatic				STPG2_ENST00000506482.1_5'UTR	p.N407D	NM_174952.2	NP_777612.1	WXS	Illumina GAIIx	Phase_I					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	17	13	---	---	---	---	C	98633951	T	C	98633951	3	2	85	1	0	0	0	0	1	0	0	0	2267	1812	63	2	168	2	C4orf37	4	98633951	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	8464794	98633951	92520325	69	4437										
HHIP	64399	broad.mit.edu	37	chr4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggaggttgtgagtgggctgCggcagcccgttggtgccctg	19	9	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.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	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		Somatic				HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	p.R227W	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	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	12	132	---	---	---	---	T	145580838	C	T	145580838	3	4	85	1	0	0	0	0	1	0	0	0	7092	759	27	2	693	2	HHIP	4	145580838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	46946887	145580838	45573438	70	4438										
OTUD4	54726	broad.mit.edu	37	chr4	146058591	146058591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcaacaaccatcaagtgtgCtgtcccctatggccatctcc	8	15	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.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			Somatic				OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron	p.Q1047Q	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	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	14	138	---	---	---	---	T	146058591	C	T	146058591	2	4	85	1	0	0	0	0	0	0	0	1	11314	796	28	2		2	OTUD4	4	146058591	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	477753	146058591	45095685	71	4439										
NR3C2	4306	broad.mit.edu	37	chr4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agaagcagaattccagcaggTcgctcaccagctgtaacaca	9	12	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.chr4:149002640T>A	ENST00000358102.3	-	9	3172	c.2810A>T	c.(2809-2811)gAc>gTc	p.D937V	NR3C2_ENST00000355292.3_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V	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	4306				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		Somatic				NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V	p.D941V			WXS	Illumina GAIIx	Phase_I	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	17	29	---	---	---	---	A	149002640	T	A	149002640	3	1	85	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	72	4440										
SH3D19	152503	broad.mit.edu	37	chr4	152053535	152053535	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttttcagtggtacctttgtgCctacattaaaaaaacaaaca	5	8	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.chr4:152053535C>T	ENST00000409252.2	-	17	2626	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000409598.4_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.(1849-1851)aGc>aAc		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			Somatic				SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000409252.2_Splice_Site_p.S640N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N	p.S617N			WXS	Illumina GAIIx	Phase_I	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.1850G>A	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	3	25	---	---	---	---	T	152053535	C	T	152053535	5	4	85	1	0	0	0	0	0	0	1	0	14249	753	26	2	469	2	SH3D19	4	152053535	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3050895	152053535	39100741	73	4441										
SLC6A3	6531	broad.mit.edu	37	chr5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttccctgaggtcttcacgccCttccagaggctgaagtagag	11	12	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		Somatic				SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	p.K257N	NM_001044.4	NP_001035.1	WXS	Illumina GAIIx	Phase_I	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	15	56	---	---	---	---	A	1422012	C	A	1422012	3	1	85	1	0	0	0	0	1	0	0	0	14685	680	24	1	1135	1	SLC6A3	5	1422012	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1422012	179493248	74	4442										
KIF2A	3796	broad.mit.edu	37	chr5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000381103.2_Frame_Shift_Del_p.I651fs|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs	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)atafs		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		Somatic				KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000509663.2_Intron	p.I651fs	NM_001243952.1	NP_001230881.1	WXS	Illumina GAIIx	Phase_I	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	85	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	60255045	61677057	119238203	75	4443										
ADAMTS6	11174	broad.mit.edu	37	chr5	64629882	64629882	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aacttacccagtgttccacaGggcttatttttataagtgca	7	9	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.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			Somatic					p.P368P			WXS	Illumina GAIIx	Phase_I	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	10	26	---	---	---	---	T	64629882	G	T	64629882	2	4	85	1	0	0	0	0	0	0	0	1	270	987	35	1		1	ADAMTS6	5	64629882	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2952825	64629882	116285378	76	4444										
ENC1	8507	broad.mit.edu	37	chr5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cttctcggagtggggccaccAtggtccatttgttgattgtg	13	9	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.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T|ENC1_ENST00000537006.1_Missense_Mutation_p.M426T	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		Somatic				ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	p.M426T	NM_003633.3	NP_003624.1	WXS	Illumina GAIIx	Phase_I	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	20	45	---	---	---	---	G	73931034	A	G	73931034	3	3	85	1	0	0	0	0	1	0	0	0	5113	217	8	2	496	2	ENC1	5	73931034	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9301152	73931034	106984226	77	4445										
GPR98	84059	broad.mit.edu	37	chr5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)attfs		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		Somatic					p.I1980fs	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	85	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	78	4446										
P4HA2	8974	broad.mit.edu	37	chr5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	caggcaggtagtccacaggcCtctcatagatgccttctggg	12	12	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.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_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		Somatic				P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M	p.R279M			WXS	Illumina GAIIx	Phase_I	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	7	127	---	---	---	---	A	131544898	C	A	131544898	3	1	85	1	0	0	0	0	1	0	0	0	11357	681	24	1	871	1	P4HA2	5	131544898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	41565222	131544898	49370362	79	4447										
PCDHA2	56146	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	20	11	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.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|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	56146							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		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	p.R497W	NM_018905.2	NP_061728.1	WXS	Illumina GAIIx	Phase_I			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	7	62	---	---	---	---	T	140176038	C	T	140176038	3	4	85	1	0	0	0	0	1	0	0	0	11524	759	27	2	1491	2	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8631140	140176038	40739222	80	4448										
PCDHA12	56137	broad.mit.edu	37	chr5	140256668	140256668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctgcagttccaggtgagcgcGcgcgacgccggcgtgccgcc	16	16	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	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_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)			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	56137							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			Somatic				PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A537A	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	50	97	---	---	---	---	A	140256668	G	A	140256668	2	1	85	1	0	0	0	0	0	0	0	1	11522	1074	38	2		2	PCDHA12	5	140256668	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	80630	140256668	40658592	81	4449										
ADRA1B	147	broad.mit.edu	37	chr5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)ctgfs		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		Somatic					p.L127fs	NM_000679.3	NP_000670.1	WXS	Illumina GAIIx	Phase_I	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	85	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	19087625	159344293	21570967	82	4450										
DUSP1	1843	broad.mit.edu	37	chr5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggagtggacagggatggagaCggggaagttgaacacggtgg	21	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.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		Somatic				RP11-779O18.3_ENST00000523005.1_RNA	p.V343I	NM_004417.3	NP_004408.1	WXS	Illumina GAIIx	Phase_I	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	7	60	---	---	---	---	T	172195842	C	T	172195842	3	4	85	1	0	0	0	0	1	0	0	0	4809	536	19	2	80	2	DUSP1	5	172195842	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12851549	172195842	8719418	83	4451										
DHX16	8449	broad.mit.edu	37	chr6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gttccctagaaatctcacctCattcccaagcttcacaccca	3	17	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.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		Somatic					p.E476K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	WXS	Illumina GAIIx	Phase_I	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	10	34	---	---	---	---	T	30630690	C	T	30630690	3	4	85	1	0	0	0	0	1	0	0	0	4502	835	29	2	1751	2	DHX16	6	30630690	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		30630690	140484377	84	4452										
USP45	85015	broad.mit.edu	37	chr6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccactatgccatagagaccgTagagaactttatctcccaca	6	13	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.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_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000369233.2_Missense_Mutation_p.Y682C	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		Somatic				USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C	p.Y730C	NM_001080481.1	NP_001073950.1	WXS	Illumina GAIIx	Phase_I	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	15	19	---	---	---	---	C	99885247	T	C	99885247	3	2	85	1	0	0	0	0	1	0	0	0	17073	1638	57	2	263	2	USP45	6	99885247	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	69254557	99885247	71229820	85	4453										
LAMA4	3910	broad.mit.edu	37	chr6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagtctcggtcagttccggcCgcttcacagggggtttcatg	13	12	4	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.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	17	38	---	---	---	---	A	112463376	C	A	112463376	3	1	85	1	0	0	0	0	1	0	0	0	8608	652	23	1	2939	1	LAMA4	6	112463376	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12578129	112463376	58651691	86	4454										
C6orf174	387104	broad.mit.edu	37	chr6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgtcgctctccttcttgcccGcgtcgctctcggcgtcgctg	11	18	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.chr6:127796901G>A	ENST00000525778.1	-	6	3015	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_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		Somatic				SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V	p.A757V	NM_001012279.2	NP_001012279.1	WXS	Illumina GAIIx	Phase_I	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	7	40	---	---	---	---	A	127796901	G	A	127796901	3	1	85	1	0	0	0	0	1	0	0	0	2345	1087	38	2	581	2	C6orf174	6	127796901	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	15333525	127796901	43318166	87	4455										
CNKSR3	154043	broad.mit.edu	37	chr6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctcctggaatggaatcgtggCgctgctgtggagatctgagt	15	8	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.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	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		Somatic				CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	p.A515T	NM_173515.2	NP_775786.2	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	T	154727613	C	T	154727613	3	4	85	1	0	0	0	0	1	0	0	0	3608	768	27	2	128	2	CNKSR3	6	154727613	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	26930712	154727613	16387454	88	4456										
C6orf118	168090	broad.mit.edu	37	chr6	165715064	165715064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gctgccctcctcacctgctgCagctttctctcgtggcccgc	9	19	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.chr6:165715064C>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			Somatic				C6orf118_ENST00000230301.8_Silent_p.L249L	p.L145L			WXS	Illumina GAIIx	Phase_I	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	7	83	---	---	---	---	T	165715064	C	T	165715064	2	4	85	1	0	0	0	0	0	0	0	1	2323	697	25	2		2	C6orf118	6	165715064	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10987451	165715064	5400003	89	4457										
MIOS	54468	broad.mit.edu	37	chr7	7645694	7645694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	catgctggacatatgcttagTtggttcaggtaatcagcaca	10	8	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.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			Somatic				MIOS_ENST00000405785.1_Silent_p.S841S	p.S841S	NM_019005.3	NP_061878.3	WXS	Illumina GAIIx	Phase_I	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	47	89	---	---	---	---	C	7645694	T	C	7645694	2	2	85	1	0	0	0	0	0	0	0	1	9589	1722	60	2		2	MIOS	7	7645694	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08		7645694	151492969	90	4458										
PRPS1L1	221823	broad.mit.edu	37	chr7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tttggagcaatgcttcatctTctcatcttgaggtatggtat	9	7	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.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		Somatic					p.K280E	NM_175886.2	NP_787082	WXS	Illumina GAIIx	Phase_I	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	46	79	---	---	---	---	C	18066568	T	C	18066568	3	2	85	1	0	0	0	0	1	0	0	0	12579	1792	62	2	122	2	PRPS1L1	7	18066568	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	10420874	18066568	141072095	91	4459										
STK31	56164	broad.mit.edu	37	chr7	23826531	23826531	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gctgttcaagccaacatgccTttaaattcagaagtaagtaa	7	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.chr7:23826531T>A	ENST00000355870.3	+	20	2594	c.2475T>A	c.(2473-2475)ccT>ccA	p.P825P	STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000354639.3_Silent_p.P802P	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			Somatic				STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR	p.P802P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	WXS	Illumina GAIIx	Phase_I	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	7	89	---	---	---	---	A	23826531	T	A	23826531	2	1	85	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	92	4460										
NT5C3	51251	broad.mit.edu	37	chr7	33061665	33061666	+	Splice_Site	INS	-	-	T													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|NT5C3A_ENST00000396152.2_Splice_Site_p.K84fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs	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.(250-252)aag>aaAg		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			Somatic				AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000242210.7_Splice_Site_p.K123fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs	p.K84fs	NM_016489.12	NP_057573.2	WXS	Illumina GAIIx	Phase_I					5	553_554	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Splice_Site	INS	ENST00000242210.7	37	c.251_252insA	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	85	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	93	4461										
C7orf57	136288	broad.mit.edu	37	chr7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	accagcgtcccagatcccagGtctcagcaatttgggagact	10	13	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.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V	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		Somatic				C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V	p.G43V	NM_001100159.2	NP_001093629.1	WXS	Illumina GAIIx	Phase_I	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	10	27	---	---	---	---	T	48081003	G	T	48081003	3	4	85	1	0	0	0	0	1	0	0	0	2404	1261	44	3	134	3	C7orf57	7	48081003	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	15019338	48081003	111057660	94	4462										
FZD9	8326	broad.mit.edu	37	chr7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cctgtgaccaggaggcgggcGcgctctacgtgatccaggag	16	12	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.chr7:72849235G>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		Somatic					p.A300T	NM_003508.2	NP_003499.1	WXS	Illumina GAIIx	Phase_I	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	27	43	---	---	---	---	A	72849235	G	A	72849235	3	1	85	1	0	0	0	0	1	0	0	0	6137	1087	38	2	900	2	FZD9	7	72849235	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	24768232	72849235	86289428	95	4463										
TFR2	7036	broad.mit.edu	37	chr7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggtgagcagggctagctgaCgccggaaacggctctcctgg	16	11	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.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H			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		Somatic				TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H	p.R774H			WXS	Illumina GAIIx	Phase_I	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	10	16	---	---	---	---	T	100218565	C	T	100218565	3	4	85	1	0	0	0	0	1	0	0	0	15808	536	19	2	88	2	TFR2	7	100218565	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	27369330	100218565	58920098	96	4464										
MUC17	140453	broad.mit.edu	37	chr7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgaggctagcaccctttcaaCaactcctgttgactccaaca	6	14	1	2	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		Somatic					p.T3539I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	19	386	---	---	---	---	T	100685313	C	T	100685313	3	4	85	1	0	0	0	0	1	0	0	0	9974	478	17	2	10626	2	MUC17	7	100685313	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	466748	100685313	58453350	97	4465										
C7orf60	154743	broad.mit.edu	37	chr7	112579785	112579785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgcgcacgagcagtatttcgGccgccggcccctggctccat	12	16	0	0	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			Somatic					p.G7G	NM_152556.2	NP_689769.2	WXS	Illumina GAIIx	Phase_I	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	6	9	---	---	---	---	A	112579785	G	A	112579785	2	1	85	1	0	0	0	0	0	0	0	1	2407	1190	42	2		2	C7orf60	7	112579785	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11894472	112579785	46558878	98	4466										
GCC1	79571	broad.mit.edu	37	chr7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cacctggcttttcctggccgCaacctgcagcagcctcttca	8	17	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.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		Somatic				GCC1_ENST00000497650.1_5'UTR	p.A446T	NM_024523.5	NP_078799.2	WXS	Illumina GAIIx	Phase_I	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	20	64	---	---	---	---	T	127223060	C	T	127223060	3	4	85	1	0	0	0	0	1	0	0	0	6285	710	25	2	995	2	GCC1	7	127223060	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	14643275	127223060	31915603	99	4467										
ZNF777	27153	broad.mit.edu	37	chr7	149133690	149133690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gcagttcctctgctgcaccaGcatctgcttcagttcgctga	9	14	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.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			Somatic					p.L439L	NM_015694.2	NP_056509.2	WXS	Illumina GAIIx	Phase_I	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	24	51	---	---	---	---	A	149133690	G	A	149133690	2	1	85	1	0	0	0	0	0	0	0	1	18147	962	34	2		2	ZNF777	7	149133690	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	21910630	149133690	10004973	100	4468										
GIMAP8	155038	broad.mit.edu	37	chr7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aagtgtgggcggcgagtttgTgcttttaacaacaaagaaac	12	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.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		Somatic					p.C599W	NM_175571.2	NP_783161.1	WXS	Illumina GAIIx	Phase_I	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	27	55	---	---	---	---	G	150174667	T	G	150174667	3	3	85	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	101	4469										
SLC7A2	6542	broad.mit.edu	37	chr8	17400870	17400870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgattccttgcagagccgcgCtgacctttgcccgatgtctg	11	13	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.chr8:17400870C>T	ENST00000494857.1	+	3	240	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000470360.1_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L	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			Somatic				SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L	p.L48L			WXS	Illumina GAIIx	Phase_I	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	14	13	---	---	---	---	T	17400870	C	T	17400870	2	4	85	1	0	0	0	0	0	0	0	1	14697	796	28	2		2	SLC7A2	8	17400870	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		17400870	128963152	102	4470										
UNC5D	137970	broad.mit.edu	37	chr8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tctcccaccatcaggtttgaAggtccgcgaagtgttcatca	9	12	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.chr8:35425622A>G	ENST00000404895.2	+	3	657	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000287272.2_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		Somatic				UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R	p.K110R			WXS	Illumina GAIIx	Phase_I	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	11	131	---	---	---	---	G	35425622	A	G	35425622	3	3	85	1	0	0	0	0	1	0	0	0	16992	72	3	2	339	2	UNC5D	8	35425622	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	18024752	35425622	110938400	103	4471										
POTEA	340441	broad.mit.edu	37	chr8	43147834	43147834	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgagaagatctgggcaagctCcacagagctgcctggtgggg	16	10	1	3	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			Somatic								WXS	Illumina GAIIx	Phase_I	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	17	40	---	---	---	---	G	43147834	C	G	43147834	1	3	85	0	1	0	0	0	0	0	0	0	12261	842	30	4		4	POTEA	8	43147834	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	7722212	43147834	103216188	104	4472										
KIAA0146	23514	broad.mit.edu	37	chr8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcgctggggctgcccctcacAgcctcttcttcaaggacgct	10	16	4	0	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_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R	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		Somatic				SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R	p.S719R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	WXS	Illumina GAIIx	Phase_I					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	17	46	---	---	---	---	C	48625401	A	C	48625401	3	2	85	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	105	4473										
VCPIP1	80124	broad.mit.edu	37	chr8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aaccaaattgttcaagggaaAgctgtaatttttgtcagtcc	8	7	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.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L	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	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		Somatic					p.F510L	NM_025054.4	NP_079330.2	WXS	Illumina GAIIx	Phase_I	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	65	147	---	---	---	---	G	67577666	A	G	67577666	3	3	85	1	0	0	0	0	1	0	0	0	17138	72	3	2	2152	2	VCPIP1	8	67577666	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	18952265	67577666	78786356	106	4474										
TM7SF4	81501	broad.mit.edu	37	chr8	105367308	105367308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcagcatctttctaccccagCgtggagaggaagcgcatcca	10	13	3	1	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			Somatic				DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	p.S411S	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	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	27	44	---	---	---	---	T	105367308	C	T	105367308	2	4	85	1	0	0	0	0	0	0	0	1	15973	767	27	2		2	TM7SF4	8	105367308	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	37789642	105367308	40996714	107	4475										
FAM135B	51059	broad.mit.edu	37	chr8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agaagcctggatgccgcttgGcaaacttgtgttactttctg	11	9	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.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)	Somatic					p.P740S	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	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	11	31	---	---	---	---	A	139164500	G	A	139164500	3	1	85	1	0	0	0	0	1	0	0	0	5449	1203	42	2	2034	2	FAM135B	8	139164500	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	33797192	139164500	7199522	108	4476										
PPP1R16A	84988	broad.mit.edu	37	chr8	145722826	145722826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gaggccgctgcccgaaatgaCctggaagaaggtgagtgtgg	17	8	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.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA|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			Somatic				CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA	p.D83D			WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	T	145722826	C	T	145722826	2	4	85	1	0	0	0	0	0	0	0	1	12365	506	18	2		2	PPP1R16A	8	145722826	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6558326	145722826	641196	109	4477										
COL27A1	85301	broad.mit.edu	37	chr9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agggaagcagtaccgcctggAagttggacctgcgtgcttcc	14	11	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.chr9:117072950A>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		Somatic					p.E1853G	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	G	117072950	A	G	117072950	3	3	85	1	0	0	0	0	1	0	0	0	3685	246	9	2	5800	2	COL27A1	9	117072950	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08		117072950	24140481	110	4478										
AKNA	80709	broad.mit.edu	37	chr9	117129977	117129977	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctcctcgagctgatggccacCctggaatacacaactgctga	9	14	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.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V	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.(1573-1575)gGg>gTg		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			Somatic				AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000223791.3_5'UTR	p.G525V	NM_030767.4	NP_110394.3	WXS	Illumina GAIIx	Phase_I	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.1574G>T	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	18	17	---	---	---	---	A	117129977	C	A	117129977	5	1	85	1	0	0	0	0	0	0	1	0	463	637	22	1	2813	1	AKNA	9	117129977	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	57027	117129977	24083454	111	4479										
DBH	1621	broad.mit.edu	37	chr9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccgtgagagccccctcccctAtcacatccccctggacccgg	8	21	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		Somatic					p.Y49C	NM_000787.3	NP_000778.3	WXS	Illumina GAIIx	Phase_I	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	4	29	---	---	---	---	G	136501639	A	G	136501639	3	3	85	1	0	0	0	0	1	0	0	0	4250	449	16	2	148	2	DBH	9	136501639	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	19371662	136501639	4711792	112	4480										
KCNT1	57582	broad.mit.edu	37	chr9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000298480.5_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs			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)cacfs		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		Somatic				KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs	p.H396fs			WXS	Illumina GAIIx	Phase_I	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	85	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	113	4481										
USP6NL	9712	broad.mit.edu	37	chr10	11505706	11505706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgctcgtgcctcctgtggggCgccccgctctccctcctgcc	11	20	1	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_ENST00000379237.2_Silent_p.A430A|USP6NL_ENST00000277575.5_Silent_p.A424A	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					ENST00000609104.1																			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			Somatic				USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	p.A407A	NM_014688.2	NP_055503.1	WXS	Illumina GAIIx	Phase_I	Q92738	US6NL_HUMAN			15	1615	-								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	7	25	---	---	---	---	T	11505706	C	T	11505706	2	4	85	1	0	0	0	0	0	0	0	1	17084	755	27	2		2	USP6NL	10	11505706	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		11505706	124029041	114	4482										
FAM171A1	221061	broad.mit.edu	37	chr10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcctctcctcccgtttctgCcaggggcttttcttgtcttc	9	15	4	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.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*		Somatic					p.W876*	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	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	32	72	---	---	---	---	T	15254959	C	T	15254959	4	4	85	1	0	0	0	0	0	1	0	0	5490	740	26	2	48	2	FAM171A1	10	15254959	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3749253	15254959	120279788	115	4483										
DDX50	79009	broad.mit.edu	37	chr10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggagggctattattttctgtGagaccaagaagaatgtaact	11	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.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		Somatic				DDX50_ENST00000466265.1_3'UTR	p.E397K	NM_024045.1	NP_076950.1	WXS	Illumina GAIIx	Phase_I	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	16	71	---	---	---	---	A	70679687	G	A	70679687	3	1	85	1	0	0	0	0	1	0	0	0	4368	1291	45	2	1219	2	DDX50	10	70679687	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	55424728	70679687	64855060	116	4484										
CWF19L1	55280	broad.mit.edu	37	chr10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cataccttccaaactgcaaaGgaaaattctttttaattctg	4	9	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.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	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		Somatic				CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	p.P486H	NM_018294.4	NP_060764.3	WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	T	101995439	G	T	101995439	3	4	85	1	0	0	0	0	1	0	0	0	4071	1000	35	1	167	1	CWF19L1	10	101995439	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	31315752	101995439	33539308	117	4485										
SEMA4G	57715	broad.mit.edu	37	chr10	102737391	102737391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctccacctcatcccacagacGgagtgctttaaccatgtgcg	8	15	1	1	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	SEMA4G_ENST00000519756.1_3'UTR|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000210633.3_Silent_p.T113T|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			Somatic				SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000517724.1_Silent_p.T113T	p.T113T			WXS	Illumina GAIIx	Phase_I	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	29	56	---	---	---	---	A	102737391	G	A	102737391	2	1	85	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	118	4486										
JAKMIP3	282973	broad.mit.edu	37	chr10	133976844	133976844	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gagcagtggaagcgccaggtCatgagtgagctgcgcgagcg	18	9	1	2	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			Somatic				JAKMIP3_ENST00000477275.1_3'UTR	p.V782V	NM_001105521.2	NP_001098991.1	WXS	Illumina GAIIx	Phase_I				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	3	9	---	---	---	---	A	133976844	C	A	133976844	2	1	85	1	0	0	0	0	0	0	0	1	7942	813	29	3		3	JAKMIP3	10	133976844	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	31239453	133976844	1557903	119	4487										
CARS	833	broad.mit.edu	37	chr11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agcaagggctcacccaccttCgtggtcttcaaaccgcaccc	8	17	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.chr11:3028112C>T	ENST00000397111.5	-	18	2142	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000397114.3_Missense_Mutation_p.E623K|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K			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		Somatic				CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K	p.E623K			WXS	Illumina GAIIx	Phase_I	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	7	136	---	---	---	---	T	3028112	C	T	3028112	3	4	85	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		3028112	131978404	120	4488										
DNHD1	144132	broad.mit.edu	37	chr11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cacccgtgtgggttcctgagTctcgaagaggcgcccagctt	13	13	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		Somatic				DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	p.S4428T	NM_144666.2	NP_653267.2	WXS	Illumina GAIIx	Phase_I	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	12	18	---	---	---	---	A	6592024	T	A	6592024	3	1	85	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	3563912	6592024	128414492	121	4489										
COPB1	1315	broad.mit.edu	37	chr11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttttcccaaatgcaggatagTagccatgagcaacatagcct	8	10	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.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		Somatic				COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	p.T591A	NM_016451.4	NP_057535.1	WXS	Illumina GAIIx	Phase_I	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	5	52	---	---	---	---	C	14491076	T	C	14491076	3	2	85	1	0	0	0	0	1	0	0	0	3728	1638	57	2	1122	2	COPB1	11	14491076	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	7899052	14491076	120515440	122	4490										
ABCC8	6833	broad.mit.edu	37	chr11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gcggtgcagtctcttggccaCcttcagccctgtccactcca	9	17	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.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		Somatic				ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	p.V1093M	NM_000352.3	NP_000343.2	WXS	Illumina GAIIx	Phase_I	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	13	38	---	---	---	---	T	17428224	C	T	17428224	3	4	85	1	0	0	0	0	1	0	0	0	58	507	18	2	1527	2	ABCC8	11	17428224	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2937148	17428224	117578292	123	4491										
KCNC1	3746	broad.mit.edu	37	chr11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttcgcaatggcacgcaagtgCgctactaccgggaggccgag	14	12	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.chr11:17793341C>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		Somatic				KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	p.R234C	NM_004976.4	NP_004967.1	WXS	Illumina GAIIx	Phase_I	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	23	83	---	---	---	---	T	17793341	C	T	17793341	3	4	85	1	0	0	0	0	1	0	0	0	8014	768	27	2	706	2	KCNC1	11	17793341	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	365117	17793341	117213175	124	4492										
OR5F1	338674	broad.mit.edu	37	chr11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)aatfs		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		Somatic					p.N5fs	NM_003697.1	NP_003688.1	WXS	Illumina GAIIx	Phase_I	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	85	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	125	4493										
OR8J1	219477	broad.mit.edu	37	chr11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)attfs		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		Somatic					p.I250fs	NM_001005205.2	NP_001005205.2	WXS	Illumina GAIIx	Phase_I	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	85	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	126	4494										
DAGLA	747	broad.mit.edu	37	chr11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggatgcctactcagaaatcGcctacctctttgcggagttc	9	12	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.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		Somatic					p.A219T	NM_006133.2	NP_006124.1	WXS	Illumina GAIIx	Phase_I	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	5	77	---	---	---	---	A	61495643	G	A	61495643	3	1	85	1	0	0	0	0	1	0	0	0	4226	1087	38	2	677	2	DAGLA	11	61495643	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5367172	61495643	73510873	127	4495										
LTBP3	4054	broad.mit.edu	37	chr11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgtcgtagtagaagccctgcTtgcagtagcactcgtagcca	11	12	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.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|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		Somatic	OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	p.K1022R	NM_001130144.2	NP_001123616.1	WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	C	65307998	T	C	65307998	3	2	85	1	0	0	0	0	1	0	0	0	9075	1609	56	2	874	2	LTBP3	11	65307998	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	3812355	65307998	69698518	128	4496										
MTL5	9633	broad.mit.edu	37	chr11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agccaaagttatttttggtgGtcctggaagagttgatcccg	12	7	0	2	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		Somatic				MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR	p.P299S	NM_004923.3	NP_004914.2	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	A	68506190	G	A	68506190	3	1	85	1	0	0	0	0	1	0	0	0	9936	1261	44	2	655	2	MTL5	11	68506190	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3198192	68506190	66500326	129	4497										
SHANK2	22941	broad.mit.edu	37	chr11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tccttggctggagaaccttgGccatcccaggctgggcactg	13	13	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.chr11:70331617G>A	ENST00000423696.2	-	15	3680	c.3644C>T	c.(3643-3645)gCc>gTc	p.A1215V	SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1595V			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		Somatic				SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V	p.A1595V			WXS	Illumina GAIIx	Phase_I	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	4	55	---	---	---	---	A	70331617	G	A	70331617	3	1	85	1	0	0	0	0	1	0	0	0	14265	1203	42	2	776	2	SHANK2	11	70331617	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1825427	70331617	64674899	130	4498										
NPAT	4863	broad.mit.edu	37	chr11	108068119	108068119	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aaaataaaagtctggcaggtAgaaatgaggttttcttgctg	11	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.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			Somatic				NPAT_ENST00000610253.1_5'UTR	p.S22S	NM_002519.2	NP_002510.2	WXS	Illumina GAIIx	Phase_I	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	12	65	---	---	---	---	G	108068119	A	G	108068119	2	3	85	1	0	0	0	0	0	0	0	1	10566	407	15	2		2	NPAT	11	108068119	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	37736502	108068119	26938397	131	4499										
MLL	4297	broad.mit.edu	37	chr11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttcaggtacttcctgaggagCggagcgatacccctgaagtt	12	10	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.chr11:118343381C>T	ENST00000389506.5	+	3	1507	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000534358.1_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		Somatic				KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W	p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					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	22	103	---	---	---	---	T	118343381	C	T	118343381	3	4	85	1	0	0	0	0	1	0	0	0	9620	759	27	2	1517	2	MLL	11	118343381	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10275262	118343381	16663135	132	4500										
VWF	7450	broad.mit.edu	37	chr12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggaggttgctgctggtgaggTcattgttctggatgccatca	15	7	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.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		Somatic					p.D1006V	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	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	15	47	---	---	---	---	A	6135163	T	A	6135163	3	1	85	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		6135163	127716732	133	4501										
PPFIBP1	8496	broad.mit.edu	37	chr12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	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)gggfs		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		Somatic				PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs	p.G498fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	WXS	Illumina GAIIx	Phase_I	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	85	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	134	4502										
ADCY6	112	broad.mit.edu	37	chr12	49169815	49169815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggaacccagcgcggcatcagCccttccatggagttggcccg	13	15	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.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	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			Somatic				ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	p.G579G	NM_015270.3	NP_056085.1	WXS	Illumina GAIIx	Phase_I	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	8	13	---	---	---	---	T	49169815	C	T	49169815	2	4	85	1	0	0	0	0	0	0	0	1	298	726	26	2		2	ADCY6	12	49169815	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	21340424	49169815	84682080	135	4503										
ESYT1	23344	broad.mit.edu	37	chr12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gctatccatctatatggagcGggcagaggacctcccggtga	13	11	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.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	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		Somatic				ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	p.R806Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	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	4	21	---	---	---	---	A	56532267	G	A	56532267	3	1	85	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	7362452	56532267	77319628	136	4504										
CNPY2	10330	broad.mit.edu	37	chr12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agctcaccgcaaacttgaggGtgccgctaatatctgagtcg	11	11	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.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.12_ENST00000546789.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_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		Somatic				RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.T132N	NM_014255.5	NP_055070.1	WXS	Illumina GAIIx	Phase_I	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	51	90	---	---	---	---	T	56705008	G	T	56705008	3	4	85	1	0	0	0	0	1	0	0	0	3628	1261	44	3	165	3	CNPY2	12	56705008	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	172741	56705008	77146887	137	4505										
SLC16A7	9194	broad.mit.edu	37	chr12	60098741	60098741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	attcagcaaatattccacacTacctacagtgaaatagcatg	5	10	1	1	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_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552024.1_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			Somatic				SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T	p.T53T	NM_004731.4	NP_004722.2	WXS	Illumina GAIIx	Phase_I	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	24	46	---	---	---	---	C	60098741	T	C	60098741	2	2	85	1	0	0	0	0	0	0	0	1	14413	1509	53	2		2	SLC16A7	12	60098741	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	3393733	60098741	73753154	138	4506										
ZFC3H1	196441	broad.mit.edu	37	chr12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)ttgfs		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		Somatic					p.L1693fs	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	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	85	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	11914420	72013161	61838734	139	4507										
HCFC2	29915	broad.mit.edu	37	chr12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tttttacttttagaaactatGtcatggtcaaaaccagaaac	5	7	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.chr12:104474531G>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		Somatic					p.M230I	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	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	15	17	---	---	---	---	C	104474531	G	C	104474531	3	2	85	1	0	0	0	0	1	0	0	0	6993	1377	48	4	708	4	HCFC2	12	104474531	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	32461370	104474531	29377364	140	4508										
PLBD2	196463	broad.mit.edu	37	chr12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agtatgaagtcggctactgcGagaggctgaagagcttcctg	14	8	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.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		Somatic				PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	p.E153K	NM_173542.3	NP_775813.2	WXS	Illumina GAIIx	Phase_I	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	32	72	---	---	---	---	A	113810526	G	A	113810526	3	1	85	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	9335995	113810526	20041369	141	4509										
MSI1	4440	broad.mit.edu	37	chr12	120791157	120791157	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gtataactccggctggcgtaGgttgtggcttggaaacctgg	15	8	0	0	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			Somatic				MSI1_ENST00000546622.1_5'UTR	p.T226T	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	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	17	51	---	---	---	---	T	120791157	G	T	120791157	2	4	85	1	0	0	0	0	0	0	0	1	9875	987	35	1		1	MSI1	12	120791157	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6980631	120791157	13060738	142	4510										
EIF2B1	1967	broad.mit.edu	37	chr12	124106408	124106408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggggcagtgtagtcgacccaCggatgctcctctttgaggtc	14	11	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.chr12:124106408C>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			Somatic				EIF2B1_ENST00000539951.1_3'UTR	p.P271P	NM_001414.3	NP_001405.1	WXS	Illumina GAIIx	Phase_I	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	4	22	---	---	---	---	T	124106408	C	T	124106408	2	4	85	1	0	0	0	0	0	0	0	1	5000	523	19	2		2	EIF2B1	12	124106408	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3315251	124106408	9745487	143	4511										
SFRS8	6433	broad.mit.edu	37	chr12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagacggtgcgcctgtgcagCcctcccaggtggagtacacg	14	14	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.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		Somatic				SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	p.P352S	NM_004592.3	NP_004583.2	WXS	Illumina GAIIx	Phase_I	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	23	25	---	---	---	---	T	132212946	C	T	132212946	3	4	85	1	0	0	0	0	1	0	0	0	14183	739	26	2	1080	2	SFRS8	12	132212946	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8106538	132212946	1638949	144	4512										
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gacactggtgatgcttgccgCcgccggagggcaggacgacc	16	13	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		Somatic				MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	p.A609V	NM_017520.3	NP_059990.2	WXS	Illumina GAIIx	Phase_I	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	18	120	---	---	---	---	T	20235872	C	T	20235872	3	4	85	1	0	0	0	0	1	0	0	0	9727	739	26	2	1856	2	MPHOSPH8	13	20235872	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		20235872	94934006	145	4513										
PABPC3	5042	broad.mit.edu	37	chr13	25672097	25672097	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttggagattgataattcagaActtctttatatgctcgagtc	8	6	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.chr13:25672097A>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			Somatic					p.E587E	NM_030979.2	NP_112241.2	WXS	Illumina GAIIx	Phase_I	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	6	109	---	---	---	---	G	25672097	A	G	25672097	2	3	85	1	0	0	0	0	0	0	0	1	11365	40	2	2		2	PABPC3	13	25672097	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	5436225	25672097	89497781	146	4514										
FREM2	341640	broad.mit.edu	37	chr13	39261856	39261856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccgggccgcctgagtcccaaGcgcttcccgtgcgactttgg	13	16	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.chr13:39261856G>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			Somatic					p.K125K	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	3	2	---	---	---	---	A	39261856	G	A	39261856	2	1	85	1	0	0	0	0	0	0	0	1	6045	962	34	2		2	FREM2	13	39261856	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13589759	39261856	75908022	147	4515										
PCID2	55795	broad.mit.edu	37	chr13	113849441	113849441	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atacatgacaggcagagcccTgcagggcaaaaaagtaaaca	10	9	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.chr13:113849441T>C	ENST00000337344.4	-	6	385		c.e6-2		PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375457.2_Splice_Site|PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_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			Somatic				PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000246505.5_Splice_Site		NM_001258213.1	NP_001245142.1	WXS	Illumina GAIIx	Phase_I	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	14	26	---	---	---	---	C	113849441	T	C	113849441	5	2	85	1	0	0	0	0	0	0	1	0	11579	1594	55	2	928	2	PCID2	13	113849441	Splice_Site	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	74587585	113849441	1320437	148	4516										
OR4E2	26686	broad.mit.edu	37	chr14	22133362	22133362	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggactcactgataaccgggtGctggaaatgctgtttttcat	11	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.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			Somatic					p.V22V	NM_001001912.1	NP_001001912.1	WXS	Illumina GAIIx	Phase_I	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	37	69	---	---	---	---	A	22133362	G	A	22133362	2	1	85	1	0	0	0	0	0	0	0	1	11060	1306	46	2		2	OR4E2	14	22133362	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		22133362	85216178	149	4517										
REC8	9985	broad.mit.edu	37	chr14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acccccgcagcccggcctgcCgcggccccgcttctccctct	9	24	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.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		Somatic				REC8_ENST00000559919.1_Missense_Mutation_p.P61L	p.P61L			WXS	Illumina GAIIx	Phase_I	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	28	48	---	---	---	---	T	24642164	C	T	24642164	3	4	85	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	150	4518										
FOXG1	2290	broad.mit.edu	37	chr14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cggcctcaccttcatggaccGcgccggctccctctactggc	10	19	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.chr14:29237390G>A	ENST00000313071.4	+	1	1104	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R302H	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		Somatic				FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H	p.R302H			WXS	Illumina GAIIx	Phase_I	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	23	55	---	---	---	---	A	29237390	G	A	29237390	3	1	85	1	0	0	0	0	1	0	0	0	6007	1087	38	2	907	2	FOXG1	14	29237390	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4595226	29237390	78112150	151	4519										
BAZ1A	11177	broad.mit.edu	37	chr14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ataccctggtgtaactgtggCcatgcagctgccaaagatgc	11	11	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.chr14:35255348C>T	ENST00000382422.2	-	12	1917	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron			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*		Somatic				BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	p.W530*	NM_013448.2	NP_038476.2	WXS	Illumina GAIIx	Phase_I	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	5	27	---	---	---	---	T	35255348	C	T	35255348	4	4	85	1	0	0	0	0	0	1	0	0	1329	740	26	2	3140	2	BAZ1A	14	35255348	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6017958	35255348	72094192	152	4520										
FOXA1	3169	broad.mit.edu	37	chr14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	catgttgccggagtccgggtGcagcgtccagtaggagccct	15	12	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.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	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		Somatic				FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	p.H247Y	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	12	19	---	---	---	---	A	38061250	G	A	38061250	3	1	85	1	0	0	0	0	1	0	0	0	5989	1319	46	2	683	2	FOXA1	14	38061250	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2805902	38061250	69288290	153	4521										
MDGA2	161357	broad.mit.edu	37	chr14	47504410	47504410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctagaccaaaggatgattggTttaggtttgccagttacttg	11	6	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.chr14:47504410T>C	ENST00000399232.2	-	8	1780	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000426342.1_Silent_p.K243K|MDGA2_ENST00000357362.3_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			Somatic				MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000399232.2_Silent_p.K472K|MDGA2_ENST00000357362.3_Silent_p.K243K	p.K243K	NM_182830.3	NP_878250.2	WXS	Illumina GAIIx	Phase_I	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	6	121	---	---	---	---	C	47504410	T	C	47504410	2	2	85	1	0	0	0	0	0	0	0	1	9407	1722	60	2		2	MDGA2	14	47504410	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	9443160	47504410	59845130	154	4522										
KLHDC1	122773	broad.mit.edu	37	chr14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggatatgatgacaaaggatAcagcaatcgagtaataattt	9	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.chr14:50176534A>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		Somatic					p.Y92C	NM_172193.2	NP_751943.1	WXS	Illumina GAIIx	Phase_I	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	12	32	---	---	---	---	G	50176534	A	G	50176534	3	3	85	1	0	0	0	0	1	0	0	0	8354	391	14	2	285	2	KLHDC1	14	50176534	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2672124	50176534	57173006	155	4523										
ALKBH1	8846	broad.mit.edu	37	chr14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgcgtggttcaagaggcggcTgaaacccgacattatcatga	12	9	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.chr14:78140481T>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		Somatic					p.S282G	NM_006020.2	NP_006011.2	WXS	Illumina GAIIx	Phase_I	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	11	22	---	---	---	---	C	78140481	T	C	78140481	3	2	85	1	0	0	0	0	1	0	0	0	526	1580	55	2	329	2	ALKBH1	14	78140481	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	27963947	78140481	29209059	156	4524										
C15orf56	644809	broad.mit.edu	37	chr15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acacttggcaacttctcccgCgctctgggttcgccgccgcg	11	17	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.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000455577.2_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000453867.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000542403.2_5'Flank|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_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		Somatic				C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron	p.A91T	NM_001039905.1	NP_001034994.1	WXS	Illumina GAIIx	Phase_I	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	5	14	---	---	---	---	T	40544701	C	T	40544701	3	4	85	1	0	0	0	0	1	0	0	0	1804	768	27	2	218	2	C15orf56	15	40544701	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		40544701	61986691	157	4525										
IGDCC3	9543	broad.mit.edu	37	chr15	65622631	65622631	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	actccatccccagccctcacCtgtcctctcagatgctcccc	4	22	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.chr15:65622631C>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.(1858-1860)Gcc>Tcc		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			Somatic					p.A620S	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	Q8IVU1	IGDC3_HUMAN			11	2109	-			620					O95215	Splice_Site	SNP	ENST00000327987.4	37	c.1858G>T	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	9	78	---	---	---	---	A	65622631	C	A	65622631	5	1	85	1	0	0	0	0	0	0	1	0	7568	695	24	1	602	1	IGDCC3	15	65622631	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	25077930	65622631	36908761	158	4526										
ARID3B	10620	broad.mit.edu	37	chr15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atggcaaccgcagggagggcCggcggcccagctacagctcc	15	15	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.chr15:74883589C>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		Somatic					p.R327W	NM_006465.2	NP_006456.1	WXS	Illumina GAIIx	Phase_I	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	28	96	---	---	---	---	T	74883589	C	T	74883589	3	4	85	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	159	4527										
CPEB1	64506	broad.mit.edu	37	chr15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acatcacgctaactcacctcCttgcagcgcatccttcggct	6	17	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.chr15:83221233C>A	ENST00000562019.1	-	8	1528	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000563800.1_Missense_Mutation_p.K426N			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		Somatic				RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N	p.K426N			WXS	Illumina GAIIx	Phase_I	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	7	27	---	---	---	---	A	83221233	C	A	83221233	3	1	85	1	0	0	0	0	1	0	0	0	3800	680	24	1	508	1	CPEB1	15	83221233	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8337644	83221233	19310159	160	4528										
PDE8A	5151	broad.mit.edu	37	chr15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|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)atttttgaafs		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		Somatic				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			WXS	Illumina GAIIx	Phase_I	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	85	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	161	4529										
PKD1	5310	broad.mit.edu	37	chr16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcgctttgcagacggtaggCgtgcccatggcatgaggcat	16	10	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.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_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		Somatic				PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	p.A3698T	NM_001009944.2	NP_001009944	WXS	Illumina GAIIx	Phase_I	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	11	73	---	---	---	---	T	2143019	C	T	2143019	3	4	85	1	0	0	0	0	1	0	0	0	11963	768	27	2	1855	2	PKD1	16	2143019	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		2143019	88211734	162	4530										
THOC6	79228	broad.mit.edu	37	chr16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggaagtgcctgagatcaacgCtttgctgctggtccccaagg	13	11	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.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|HCFC1R1_ENST00000574151.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D	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		Somatic				THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	p.A131D	NM_024339.3	NP_077315.2	WXS	Illumina GAIIx	Phase_I	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	20	23	---	---	---	---	A	3076395	C	A	3076395	3	1	85	1	0	0	0	0	1	0	0	0	15866	797	28	3	414	3	THOC6	16	3076395	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	933376	3076395	87278358	163	4531										
DNAH3	55567	broad.mit.edu	37	chr16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tggcatttaccttgagattgTcgggcagttcagccctgcca	11	11	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.chr16:21053359T>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		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	p.D1543G	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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	20	48	---	---	---	---	C	21053359	T	C	21053359	3	2	85	1	0	0	0	0	1	0	0	0	4603	1667	58	2	7845	2	DNAH3	16	21053359	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	17976964	21053359	69301394	164	4532										
IL4R	3566	broad.mit.edu	37	chr16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cacagtgggagaagcggtccCgaggccaggaaccagccaag	15	12	0	1	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_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000543915.2_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*		Somatic				IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*	p.R292*	NM_000418.3	NP_000409.1	WXS	Illumina GAIIx	Phase_I	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	28	65	---	---	---	---	T	27372111	C	T	27372111	4	4	85	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	165	4533										
TGFB1I1	7041	broad.mit.edu	37	chr16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aaaggcttctgccacctcagCcactctggagctggatagac	10	13	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.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_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		Somatic				TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	p.A154V	NM_001042454.2	NP_001035919.1	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	T	31485718	C	T	31485718	3	4	85	1	0	0	0	0	1	0	0	0	15814	739	26	2	483	2	TGFB1I1	16	31485718	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4113607	31485718	58869035	166	4534										
CDH5	1003	broad.mit.edu	37	chr16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccacatcgggcgcctgcctgGgcctgctggcagtggcagca	15	15	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		Somatic				CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	p.G16S	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	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	23	59	---	---	---	---	A	66413286	G	A	66413286	3	1	85	1	0	0	0	0	1	0	0	0	3113	1232	43	2	48	2	CDH5	16	66413286	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	34927568	66413286	23941467	167	4535										
CMTM1	113540	broad.mit.edu	37	chr16	66600560	66600560	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgcaacatctcagcgaagacCgcaccccggaagcaccccgc	9	19	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.chr16:66600560C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000379500.2_Silent_p.T48T|CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T	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			Somatic				CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	WXS	Illumina GAIIx	Phase_I	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	5	55	---	---	---	---	T	66600560	C	T	66600560	1	4	85	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	168	4536										
PLEKHG4	25894	broad.mit.edu	37	chr16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tggcagagatggtggccacgGagcgggagtatgtccgggct	19	8	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.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|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		Somatic				PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	WXS	Illumina GAIIx	Phase_I	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	22	28	---	---	---	---	A	67319227	G	A	67319227	3	1	85	1	0	0	0	0	1	0	0	0	12071	1175	41	2	2280	2	PLEKHG4	16	67319227	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	718667	67319227	23035526	169	4537										
CENPT	80152	broad.mit.edu	37	chr16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	actgtggctgaagaggtgtgGcaaaggtcaggttgagggat	18	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.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		Somatic				CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	p.A194V	NM_025082.3	NP_079358.3	WXS	Illumina GAIIx	Phase_I	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	17	28	---	---	---	---	A	67865241	G	A	67865241	3	1	85	1	0	0	0	0	1	0	0	0	3242	1203	42	2	1132	2	CENPT	16	67865241	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	546014	67865241	22489512	170	4538										
CDH1	999	broad.mit.edu	37	chr16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttgaggatccaatggagattTtgatcacggtaaccgatcag	11	7	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.chr16:68844157T>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		Somatic				CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	p.L249V	NM_004360.3	NP_004351.1	WXS	Illumina GAIIx	Phase_I	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	38	82	---	---	---	---	G	68844157	T	G	68844157	3	3	85	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	171	4539										
TERF2	7014	broad.mit.edu	37	chr16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctcaccgtcagccggggctgAactttcgttttcatcttttc	8	13	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.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		Somatic				TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	p.S381P	NM_005652.3	NP_005643.2	WXS	Illumina GAIIx	Phase_I	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	19	31	---	---	---	---	G	69400909	A	G	69400909	3	3	85	1	0	0	0	0	1	0	0	0	15759	246	9	2	503	2	TERF2	16	69400909	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	556752	69400909	20953844	172	4540										
HYDIN	54768	broad.mit.edu	37	chr16	70934964	70934964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gtgggctgaaagtacaggtgCaggccgtactcagcctcagg	15	10	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.chr16:70934964C>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			Somatic					p.L2997L	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	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	18	88	---	---	---	---	T	70934964	C	T	70934964	2	4	85	1	0	0	0	0	0	0	0	1	7467	697	25	2		2	HYDIN	16	70934964	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1534055	70934964	19419789	173	4541										
ZNF19	7567	broad.mit.edu	37	chr16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agctttcagaggcatggctgCcatgacctggtctccctctt	10	13	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.chr16:71516014C>T	ENST00000288177.5	-	3	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	AC010547.9_ENST00000561908.1_Missense_Mutation_p.A2T|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000568446.1_5'Flank	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	7571							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		Somatic				ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T	p.A2T			WXS	Illumina GAIIx	Phase_I					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	10	11	---	---	---	---	T	71516014	C	T	71516014	3	4	85	1	0	0	0	0	1	0	0	0	17752	739	26	2	1388	2	ZNF19	16	71516014	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	581050	71516014	18838739	174	4542										
KLHL36	79786	broad.mit.edu	37	chr16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcaagcggcttgatgccttcAtcgatggcttcatcctgaac	9	12	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.chr16:84690912A>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		Somatic				KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	p.I167V	NM_024731.2	NP_079007.2	WXS	Illumina GAIIx	Phase_I	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	8	49	---	---	---	---	G	84690912	A	G	84690912	3	3	85	1	0	0	0	0	1	0	0	0	8389	217	8	2	505	2	KLHL36	16	84690912	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	13174898	84690912	5663841	175	4543										
SCARF1	8578	broad.mit.edu	37	chr17	1543259	1543259	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcccctgtcacagtatcacaGgacccctgaacacaggtggg	10	14	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_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000574545.1_5'Flank|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			Somatic				SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	WXS	Illumina GAIIx	Phase_I	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	7	35	---	---	---	---	T	1543259	G	T	1543259	2	4	85	1	0	0	0	0	0	0	0	1	13883	987	35	1		1	SCARF1	17	1543259	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		1543259	79651951	176	4544										
OR3A1	4994	broad.mit.edu	37	chr17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	caaccacagtgaggtgggagCcacatgtggagaaggctttc	14	9	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.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		Somatic				RP11-64J4.2_ENST00000573491.1_RNA	p.G245D	NM_002550.2	NP_002541.2	WXS	Illumina GAIIx	Phase_I	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	23	53	---	---	---	---	T	3195143	C	T	3195143	3	4	85	1	0	0	0	0	1	0	0	0	11037	739	26	2	217	2	OR3A1	17	3195143	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1651884	3195143	78000067	177	4545										
PFN1	5216	broad.mit.edu	37	chr17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)cagaaa>caa		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		Somatic				PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	p.K70del	NM_005022.3	NP_005013.1	WXS	Illumina GAIIx	Phase_I	P07737	PROF1_HUMAN			2	826_828	-			70					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	85	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	178	4546										
NEURL4	84461	broad.mit.edu	37	chr17	7224437	7224437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctgcagcctcttactcccagGccatgctcctcgccctcgtc	7	20	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.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000315614.7_Silent_p.G1116G|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.G1094G	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			Somatic				NEURL4_ENST00000570460.1_Silent_p.G1094G|NEURL4_ENST00000315614.7_Silent_p.G1116G	p.G1118G	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					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	4	45	---	---	---	---	A	7224437	G	A	7224437	2	1	85	1	0	0	0	0	0	0	0	1	10347	1190	42	2		2	NEURL4	17	7224437	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2374398	7224437	73970773	179	4547										
MYH2	4620	broad.mit.edu	37	chr17	10448739	10448739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcctggcgctttttgcctcgGtaggctgtcaccacctcggg	12	14	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.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	MYH2_ENST00000397183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_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			Somatic				MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA	p.Y143Y	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	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	43	88	---	---	---	---	A	10448739	G	A	10448739	2	1	85	1	0	0	0	0	0	0	0	1	10035	1256	44	2		2	MYH2	17	10448739	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3224302	10448739	70746471	180	4548										
ZNF286A	57335	broad.mit.edu	37	chr17	15619621	15619621	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	accataagcatgatgtatacTggaaaagcttcaatcagaaa	7	7	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.chr17:15619621T>G	ENST00000464847.2	+	5	1136	c.583T>G	c.(583-585)Tgg>Ggg	p.W195G	ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	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)|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)		TGATGTATACTGGAAAAGCTT	0.378																																						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.(583-585)Tgg>Ggg		zinc finger protein 286A							83	82	82					17																	15619621		2202	4298	6500	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619621T>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.583T>G	17.37:g.15619621T>G	ENSP00000464218:p.Trp195Gly		Somatic				ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000472486.1_3'UTR	p.W195G			WXS	Illumina GAIIx	Phase_I	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	1136	+			195					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.583T>G	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.466575	0.01053	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.05996	3.72;3.36	4.06	2.88	0.33553	.	1.699520	0.03699	N	0.248240	T	0.02267	0.0070	N	0.01009	-1.055	0.36358	D	0.860533	B	0.06786	0.001	B	0.06405	0.002	T	0.43294	-0.9400	10	0.02654	T	1	-9.2627	7.8689	0.29554	0.0:0.0:0.335:0.665	.	195	Q9HBT8	Z286A_HUMAN	G	195;185;195	ENSP00000397163:W195G;ENSP00000408168:W185G	ENSP00000435872:W195G	W	+	1	0	ZNF286A	15560346	1.000000	0.71417	0.775000	0.31657	0.061000	0.15899	4.123000	0.57917	1.828000	0.53243	0.528000	0.53228	TGG		0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		4	60	4	60	---	---	---	---	G	15619621	T	G	15619621	3	3	85	1	0	0	0	0	1	0	0	0	17820	1580	55	5	601	5	ZNF286A	17	15619621	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5170882	15619621	65575589	181	4549										
NCOR1	9611	broad.mit.edu	37	chr17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)cagfs		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		Somatic				NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	p.Q1833fs	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	85	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	345478	15965099	65230111	182	4550										
KSR1	8844	broad.mit.edu	37	chr17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgtcggcctgctgggctttcGacctgcaggagagacccagc	14	13	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_ENST00000398988.3_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N			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		Somatic				KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N	p.D726N	NM_014238.1	NP_055053.1	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	A	25944348	G	A	25944348	3	1	85	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	9979249	25944348	55250862	183	4551										
RFFL	117584	broad.mit.edu	37	chr17	33344575	33344575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tcagcaggtactctggccacGctctccaggtagacgggttc	12	13	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.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000378516.2_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			Somatic				RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S	p.S214S			WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	A	33344575	G	A	33344575	2	1	85	1	0	0	0	0	0	0	0	1	13250	1078	38	2		2	RFFL	17	33344575	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7400227	33344575	47850635	184	4552										
CACNB1	782	broad.mit.edu	37	chr17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)tatfs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	85	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	3987003	37331578	43863632	185	4553										
PLEKHM1	9842	broad.mit.edu	37	chr17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggcagcccttcttcaccacaGcctggcagctctggtggaag	12	14	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.chr17:43515294G>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		Somatic				PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	p.A1034V	NM_014798.2	NP_055613.1	WXS	Illumina GAIIx	Phase_I	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	4	22	---	---	---	---	A	43515294	G	A	43515294	3	1	85	1	0	0	0	0	1	0	0	0	12080	971	34	2	73	2	PLEKHM1	17	43515294	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6183716	43515294	37679916	186	4554										
COPZ2	51226	broad.mit.edu	37	chr17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gggacacttactctcagtccGgctggtcttgttgaagacat	11	10	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.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		Somatic				COPZ2_ENST00000584666.1_5'UTR	p.R85W	NM_016429.2	NP_057513.1	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	A	46111238	G	A	46111238	3	1	85	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	187	4555										
SPOP	8405	broad.mit.edu	37	chr17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aggattgcttcaggcgtttgCgtgggggtcccagaaaaggg	17	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.chr17:47677762C>T	ENST00000393328.2	-	11	1468	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000393331.3_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000504102.1_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	10	162	---	---	---	---	T	47677762	C	T	47677762	3	4	85	1	0	0	0	0	1	0	0	0	15083	768	27	2	25	2	SPOP	17	47677762	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1566524	47677762	33517448	188	4556										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	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.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	35	68	---	---	---	---	C	47696426	A	C	47696426	3	2	85	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	189	4557										
POLG2	11232	broad.mit.edu	37	chr17	62492847	62492847	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctaagctgctgcttgcttccActtaggaaatgccttctctg	8	12	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.chr17:62492847A>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			Somatic					p.S80S	NM_007215.3	NP_009146.2	WXS	Illumina GAIIx	Phase_I	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	22	62	---	---	---	---	G	62492847	A	G	62492847	2	3	85	1	0	0	0	0	0	0	0	1	12201	156	6	2		2	POLG2	17	62492847	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	14796421	62492847	18702363	190	4558										
ATP5H	10476	broad.mit.edu	37	chr17	73035039	73035039	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	actcaattttataaattctcAattggttggtgaggccaata	7	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.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			Somatic				ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	p.I158I	NM_006356.2	NP_006347.1	WXS	Illumina GAIIx	Phase_I	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	17	42	---	---	---	---	G	73035039	A	G	73035039	2	3	85	1	0	0	0	0	0	0	0	1	1156	126	5	2		2	ATP5H	17	73035039	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	10542192	73035039	8160171	191	4559										
EVPL	2125	broad.mit.edu	37	chr17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctgtgggttggccaggtctgAgccagatggagctgggggca	19	8	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.chr17:74013981A>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		Somatic				EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	p.S517A	NM_001988.2	NP_001979.2	WXS	Illumina GAIIx	Phase_I	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	10	19	---	---	---	---	C	74013981	A	C	74013981	3	2	85	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	192	4560										
RHBDF2	79651	broad.mit.edu	37	chr17	74467835	74467835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tacagccacagcacgagggcGgcgaagaggccggcaaaggc	16	12	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.chr17:74467835G>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			Somatic				RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A	p.A788A			WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	A	74467835	G	A	74467835	2	1	85	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	193	4561										
ENGASE	64772	broad.mit.edu	37	chr17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)gagaag>gag		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		Somatic	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.K373del	NM_001042573.2	NP_001036038.1	WXS	Illumina GAIIx	Phase_I	Q8NFI3	ENASE_HUMAN			8	1112_1114	+			373			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	85	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	194	4562										
DUS1L	64118	broad.mit.edu	37	chr17	80016030	80016030	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atgacttcggagaagccaccTggtgttccaggtgctgctgg	14	10	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.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			Somatic				DUS1L_ENST00000306796.5_Silent_p.P461P	p.P461P			WXS	Illumina GAIIx	Phase_I	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	12	39	---	---	---	---	G	80016030	T	G	80016030	2	3	85	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	2936855	80016030	1179180	195	4563										
ZNF750	79755	broad.mit.edu	37	chr17	80788498	80788498	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgaccggggaaggcaggcctCggagcctgggtgttacaggg	19	10	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.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_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			Somatic				TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron	p.P564P	NM_024702.2	NP_078978.2	WXS	Illumina GAIIx	Phase_I	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	14	75	---	---	---	---	T	80788498	C	T	80788498	2	4	85	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	772468	80788498	406712	196	4564										
MYL12B	103910	broad.mit.edu	37	chr18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cgagcaaaaaggcaaagaccAagaccaccaagaagcgccct	9	13	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.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E|MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_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		Somatic				MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E	p.K9E	NM_001144945.1	NP_001138417.1	WXS	Illumina GAIIx	Phase_I	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	29	73	---	---	---	---	G	3272921	A	G	3272921	3	3	85	1	0	0	0	0	1	0	0	0	10046	131	5	2	27	2	MYL12B	18	3272921	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08		3272921	74804327	197	4565										
CABLES1	91768	broad.mit.edu	37	chr18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttgaggagaacgcccctctcCggaggtaattttctgtttca	10	10	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.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR	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		Somatic				CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	p.R305W	NM_001100619.2	NP_001094089.1	WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	T	20768869	C	T	20768869	3	4	85	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	198	4566										
KIAA1012	22878	broad.mit.edu	37	chr18	29488975	29488975	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aagttatttggtaagccatcTactgaaaaagagattatttc	7	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.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_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			Somatic				TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site		NM_014939.3	NP_055754	WXS	Illumina GAIIx	Phase_I	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	11	30	---	---	---	---	C	29488975	T	C	29488975	5	2	85	1	0	0	0	0	0	0	1	0	8204	1536	53	2	3535	2	KIAA1012	18	29488975	Splice_Site	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	8720106	29488975	48588273	199	4567										
C18orf34	374864	broad.mit.edu	37	chr18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aaggtgctggaatatttactAcggcacagctgtgacgtcga	12	8	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.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_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_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_ENST00000402325.1_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		Somatic				CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A	p.V88A			WXS	Illumina GAIIx	Phase_I					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	14	38	---	---	---	---	G	30950099	A	G	30950099	3	3	85	1	0	0	0	0	1	0	0	0	1902	391	14	2	2412	2	C18orf34	18	30950099	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	1461124	30950099	47127149	200	4568										
SLC14A2	8170	broad.mit.edu	37	chr18	43248313	43248313	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgaccctccctctcctgccaGgtcggccatcgctgcaggat	10	17	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.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000586448.1_Splice_Site|SLC14A2_ENST00000589658.1_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			Somatic				SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site		NM_007163.3	NP_009094.3	WXS	Illumina GAIIx	Phase_I	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	13	21	---	---	---	---	A	43248313	G	A	43248313	5	1	85	1	0	0	0	0	0	0	1	0	14397	1014	35	2	1961	2	SLC14A2	18	43248313	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12298214	43248313	34828935	201	4569										
TMX3	54495	broad.mit.edu	37	chr18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttcttcttttctaatacatcCttgggctcctgcactgtagg	7	11	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.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		Somatic					p.K446N	NM_019022.3	NP_061895.3	WXS	Illumina GAIIx	Phase_I	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	7	74	---	---	---	---	A	66344197	C	A	66344197	3	1	85	1	0	0	0	0	1	0	0	0	16265	680	24	1	30	1	TMX3	18	66344197	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	23095884	66344197	11733051	202	4570										
CIRBP	1153	broad.mit.edu	37	chr19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttgtgaaagacagggagaccCagagatctcggggatttggg	16	6	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.chr19:1271165C>T	ENST00000588030.1	+	3	390	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_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*		Somatic				CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*	p.Q44*			WXS	Illumina GAIIx	Phase_I	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	19	43	---	---	---	---	T	1271165	C	T	1271165	4	4	85	1	0	0	0	0	0	1	0	0	3433	595	21	2	136	2	CIRBP	19	1271165	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1271165	57857818	203	4571										
DOT1L	84444	broad.mit.edu	37	chr19	2222180	2222180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cttcctgcctctcccgcccaCcagctctcctccagtccccg	5	24	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.chr19:2222180C>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			Somatic					p.H1004H	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	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	12	16	---	---	---	---	T	2222180	C	T	2222180	2	4	85	1	0	0	0	0	0	0	0	1	4709	506	18	2		2	DOT1L	19	2222180	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	951015	2222180	56906803	204	4572										
MUC16	94025	broad.mit.edu	37	chr19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgccagaggagccaggcattGttgtggaaaccatgttgtct	13	8	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.chr19:9058758G>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		Somatic					p.T9563R	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	31	34	---	---	---	---	C	9058758	G	C	9058758	3	2	85	1	0	0	0	0	1	0	0	0	9973	1377	48	4	15163	4	MUC16	19	9058758	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6836578	9058758	50070225	205	4573										
ZNF44	51710	broad.mit.edu	37	chr19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atactgtgcatttatgagggCcatctccagtgtgtgccatc	10	10	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.chr19:12383898C>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		Somatic				ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	p.G439D	NM_001164276.1	NP_001157748.1	WXS	Illumina GAIIx	Phase_I	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	31	68	---	---	---	---	T	12383898	C	T	12383898	3	4	85	1	0	0	0	0	1	0	0	0	17909	739	26	2	679	2	ZNF44	19	12383898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3325140	12383898	46745085	206	4574										
CD97	976	broad.mit.edu	37	chr19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atcggagcttggtgctgaccTatgtgtttaccatcctcaac	9	11	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.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CTC-548K16.5_ENST00000590626.1_RNA	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		Somatic				CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H	p.Y769H	NM_078481.3	NP_510966.1	WXS	Illumina GAIIx	Phase_I	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	9	86	---	---	---	---	C	14517970	T	C	14517970	3	2	85	1	0	0	0	0	1	0	0	0	3049	1522	53	2	2375	2	CD97	19	14517970	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2134072	14517970	44611013	207	4575										
GMIP	51291	broad.mit.edu	37	chr19	19748735	19748735	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gggatgggcctcacccgcctCagcacttcatccccctgaaa	9	17	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.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Silent_p.L307L	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			Somatic				GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L	p.L307L	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	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	8	15	---	---	---	---	A	19748735	C	A	19748735	2	1	85	1	0	0	0	0	0	0	0	1	6491	813	29	3		3	GMIP	19	19748735	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5230765	19748735	39380248	208	4576										
GPATCH1	55094	broad.mit.edu	37	chr19	33608948	33608948	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aacatcatctgtggctcacgGtatgtcagtatttcagactc	8	10	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.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			Somatic						NM_018025.2	NP_060495.2	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	A	33608948	G	A	33608948	5	1	85	1	0	0	0	0	0	0	1	0	6590	1275	44	2	2476	2	GPATCH1	19	33608948	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13860213	33608948	25520035	209	4577										
MARK4	57787	broad.mit.edu	37	chr19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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.(2035-2037)cccfs		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		Somatic				MARK4_ENST00000262891.4_Frame_Shift_Ins_p.A652fs	p.P679fs	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	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	85	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	12196715	45805663	13323320	210	4578										
LMTK3	114783	broad.mit.edu	37	chr19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gaacttgcgttgctccagggGccccgcgctggctcggagct	15	14	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.chr19:49012151G>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		Somatic				LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T	p.P172T			WXS	Illumina GAIIx	Phase_I				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	19	32	---	---	---	---	T	49012151	G	T	49012151	3	4	85	1	0	0	0	0	1	0	0	0	8860	1203	42	3	3912	3	LMTK3	19	49012151	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3206488	49012151	10116832	211	4579										
TRPM4	54795	broad.mit.edu	37	chr19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tagggacaagcgggagagcgActccgagcgtctgaagcgca	16	10	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.chr19:49714069A>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		Somatic				TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	p.D1144G	NM_017636.3	NP_060106.2	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	G	49714069	A	G	49714069	3	3	85	1	0	0	0	0	1	0	0	0	16585	275	10	2	3517	2	TRPM4	19	49714069	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	701918	49714069	9414914	212	4580										
AP2A1	160	broad.mit.edu	37	chr19	50302915	50302915	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gacgtcagcgtgcggcagcgGgcggctgacctcctctacgc	15	15	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.chr19:50302915G>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			Somatic				AP2A1_ENST00000359032.5_Silent_p.R388R	p.R388R	NM_130787.2	NP_570603.2	WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	T	50302915	G	T	50302915	2	4	85	1	0	0	0	0	0	0	0	1	739	1219	43	1		1	AP2A1	19	50302915	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	588846	50302915	8826068	213	4581										
ZNF616	90317	broad.mit.edu	37	chr19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)aaafs		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		Somatic				ZNF616_ENST00000330123.5_3'UTR	p.K743fs	NM_178523.3	NP_848618.2	WXS	Illumina GAIIx	Phase_I	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	85	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	2315273	52618188	6510795	214	4582										
ADRA1D	146	broad.mit.edu	37	chr20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ctcggccacctcgtgtgggaCgcctagggacacagcctcca	12	16	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.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		Somatic					p.V546I	NM_000678.3	NP_000669.1	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	T	4202253	C	T	4202253	3	4	85	1	0	0	0	0	1	0	0	0	336	536	19	2	86	2	ADRA1D	20	4202253	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		4202253	58823267	215	4583										
KIF16B	55614	broad.mit.edu	37	chr20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tctctggactccaaaatctcCttttcctttttcctcacttt	2	14	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.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_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		Somatic				KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	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	31	78	---	---	---	---	A	16359674	C	A	16359674	3	1	85	1	0	0	0	0	1	0	0	0	8278	680	24	1	1012	1	KIF16B	20	16359674	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12157421	16359674	46665846	216	4584										
NANP	140838	broad.mit.edu	37	chr20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	gagcaggtaactctagcacaGaagaaaccatgtaatgcgga	11	8	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.chr20:25596622G>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		Somatic					p.S229F	NM_152667.2	NP_689880.1	WXS	Illumina GAIIx	Phase_I	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	14	63	---	---	---	---	A	25596622	G	A	25596622	3	1	85	1	0	0	0	0	1	0	0	0	10154	942	33	2	64	2	NANP	20	25596622	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9236948	25596622	37428898	217	4585										
GTPBP5	26164	broad.mit.edu	37	chr20	60773005	60773005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	aactgcttcgggcgcagtggCgccgtcctctacatccgggt	13	14	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.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			Somatic				MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	p.G150G	NM_015666.3	NP_056481.1	WXS	Illumina GAIIx	Phase_I					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	12	35	---	---	---	---	T	60773005	C	T	60773005	2	4	85	1	0	0	0	0	0	0	0	1	6883	755	27	2		2	GTPBP5	20	60773005	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	35176383	60773005	2252515	218	4586										
GCFC1	94104	broad.mit.edu	37	chr21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)acafs		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		Somatic				PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs|PAXBP1_ENST00000472588.1_5'UTR	p.T370fs	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					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	85	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		34132172	13997723	219	4587										
CLTCL1	8218	broad.mit.edu	37	chr22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_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)tttfs		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		Somatic				CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs	p.F252fs	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	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	85	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	220	4588										
MED15	51586	broad.mit.edu	37	chr22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgatgagcggcagagcatccCcagtgtgctccagggtgagg	16	10	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.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_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR	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		Somatic				MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000541476.1_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	p.P675L	NM_001003891.1	NP_001003891.1	WXS	Illumina GAIIx	Phase_I	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	19	27	---	---	---	---	T	20939447	C	T	20939447	3	4	85	1	0	0	0	0	1	0	0	0	9433	623	22	2	2086	2	MED15	22	20939447	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1712610	20939447	30365119	221	4589										
GNAZ	2781	broad.mit.edu	37	chr22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)ctcatc>ctc		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		Somatic				RTDR1_ENST00000216036.4_Intron	p.I74del	NM_002073.2	NP_002064.1	WXS	Illumina GAIIx	Phase_I	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	881_883	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		74					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	85	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	2498650	23438097	27866469	222	4590										
MTMR3	8897	broad.mit.edu	37	chr22	30416462	30416462	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccagagactgaaaacagggcCtcagagcagcccccaggtct	11	14	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.chr22:30416462C>A	ENST00000401950.2	+	17	3156	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000333027.3_Silent_p.A938A|MTMR3_ENST00000406629.1_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			Somatic				CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000406629.1_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA	p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	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	20	47	---	---	---	---	A	30416462	C	A	30416462	2	1	85	1	0	0	0	0	0	0	0	1	9945	668	24	1		1	MTMR3	22	30416462	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6978365	30416462	20888104	223	4591										
RNF215	200312	broad.mit.edu	37	chr22	30776081	30776081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagaagtagtccaggcacacCgcacaggtctcagcacccgg	11	15	1	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			Somatic					p.A326A	NM_001017981.1	NP_001017981.1	WXS	Illumina GAIIx	Phase_I	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	5	72	---	---	---	---	T	30776081	C	T	30776081	2	4	85	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	224	4592										
RNF215	200312	broad.mit.edu	37	chr22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	cagccggcagcgccgtgtctTgagggatgccagtctccgca	14	14	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.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		Somatic					p.K304E	NM_001017981.1	NP_001017981.1	WXS	Illumina GAIIx	Phase_I	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	10	65	---	---	---	---	C	30776149	T	C	30776149	3	2	85	1	0	0	0	0	1	0	0	0	13479	1821	63	2	235	2	RNF215	22	30776149	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	68	30776149	20528417	225	4593										
GAL3ST1	9514	broad.mit.edu	37	chr22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	attgaagccgttggggtcgtAgtagcgatccgggtcttgca	15	8	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.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_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		Somatic				GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H	p.Y204H			WXS	Illumina GAIIx	Phase_I	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	6	67	---	---	---	---	G	30951602	A	G	30951602	3	3	85	1	0	0	0	0	1	0	0	0	6197	420	15	2	665	2	GAL3ST1	22	30951602	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	175453	30951602	20352964	226	4594										
IL2RB	3560	broad.mit.edu	37	chr22	37524301	37524301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccagcgtcagggacctcctcCccagcctctcgcagcaccag	9	20	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.chr22:37524301C>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	3560				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			Somatic					p.G497G	NM_000878.3	NP_000869.1	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	T	37524301	C	T	37524301	2	4	85	1	0	0	0	0	0	0	0	1	7687	610	22	2		2	IL2RB	22	37524301	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6572699	37524301	13780265	227	4595										
TAB1	10454	broad.mit.edu	37	chr22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	atgcaaatcgacagtggatgGgttgcaggtgacacagctga	14	7	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.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		Somatic				TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	p.G197V	NM_006116.2	NP_006107.1	WXS	Illumina GAIIx	Phase_I	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	12	39	---	---	---	---	T	39814776	G	T	39814776	3	4	85	1	0	0	0	0	1	0	0	0	15492	1232	43	1	612	1	TAB1	22	39814776	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2290475	39814776	11489790	228	4596										
WBP2NL	164684	broad.mit.edu	37	chr22	42423017	42423017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ccacctctcggatatggagcCccacctctcggatatggagc	10	15	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.chr22:42423017C>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			Somatic				WBP2NL_ENST00000543212.1_Silent_p.A180A	p.A254A	NM_152613.2	NP_689826.2	WXS	Illumina GAIIx	Phase_I	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	9	187	---	---	---	---	A	42423017	C	A	42423017	2	1	85	1	0	0	0	0	0	0	0	1	17257	610	22	1		1	WBP2NL	22	42423017	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2608241	42423017	8881549	229	4597										
GTSE1	51512	broad.mit.edu	37	chr22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-													0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	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)aaafs		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		Somatic					p.K701fs	NM_016426.6	NP_057510	WXS	Illumina GAIIx	Phase_I	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	85	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	4302412	46725429	4579137	230	4598										
RAB9A	9367	broad.mit.edu	37	chrX	13727114	13727114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tacagaggttctgactgctgCctgcttacttttagtgtcga	10	9	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: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			Somatic				RAB9A_ENST00000243325.5_3'UTR	p.C83C	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	WXS	Illumina GAIIx	Phase_I	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	15	80	---	---	---	---	T	13727114	C	T	13727114	2	4	85	1	0	0	0	0	0	0	0	1	12958	747	26	2		2	RAB9A	23	13727114	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		13727114	141543446	231	4599										
GPR64	10149	broad.mit.edu	37	chrX	19037719	19037719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	agcatgtttgttacataccaCtgaagcttttccaactcttc	5	11	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.chrX:19037719C>T	ENST00000379869.3	-	15	871	c.708G>A	c.(706-708)caG>caA	p.Q236Q	GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000379873.2_Silent_p.Q236Q	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			Somatic				GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	p.Q220Q	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	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	8	15	---	---	---	---	T	19037719	C	T	19037719	2	4	85	1	0	0	0	0	0	0	0	1	6705	564	20	2		2	GPR64	23	19037719	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5310605	19037719	136232841	232	4600										
PHF16	9767	broad.mit.edu	37	chrX	46887491	46887491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	tgttctgtgataagtgtaacGtctgtgtgcatcaggttagt	12	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.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	9767				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		Somatic				PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	p.V225I	NM_014735.3	NP_055550.1	WXS	Illumina GAIIx	Phase_I	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	21	4	---	---	---	---	A	46887491	G	A	46887491	3	1	85	1	0	0	0	0	1	0	0	0	11827	1145	40	2	691	2	PHF16	23	46887491	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27849772	46887491	108383069	233	4601										
MAGED1	9500	broad.mit.edu	37	chrX	51639838	51639838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ggccaaaccccattgtctggCccggccctgttgtctggccg	12	16	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.chrX:51639838C>T	ENST00000375722.1	+	4	1339	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.P419S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_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)	Somatic				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	p.P419S	NM_001005333.1	NP_001005333.1	WXS	Illumina GAIIx	Phase_I	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	9	11	---	---	---	---	T	51639838	C	T	51639838	3	4	85	1	0	0	0	0	1	0	0	0	9183	739	26	2	1269	2	MAGED1	23	51639838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4752347	51639838	103630722	234	4602										
STARD8	9754	broad.mit.edu	37	chrX	67937675	67937675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	acgttcctggggaccacaaaCcaggcacattccctcgctcc	8	17	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.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		Somatic				STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S	p.P227S	NM_014725.4	NP_055540.2	WXS	Illumina GAIIx	Phase_I	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	3	11	---	---	---	---	T	67937675	C	T	67937675	3	4	85	1	0	0	0	0	1	0	0	0	15262	507	18	2	941	2	STARD8	23	67937675	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16297837	67937675	87332885	235	4603										
TAF1	6872	broad.mit.edu	37	chrX	70613199	70613199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ttgatgtggtgcgcacaatgTcaacagaacaggctcgttct	11	9	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.chrX:70613199T>C	ENST00000373790.4	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000449580.1_Missense_Mutation_p.S1033P|TAF1_ENST00000276072.3_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		Somatic				TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P	p.S1033P			WXS	Illumina GAIIx	Phase_I	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	28	6	---	---	---	---	C	70613199	T	C	70613199	3	2	85	1	0	0	0	0	1	0	0	0	15510	1667	58	2	3242	2	TAF1	23	70613199	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2675524	70613199	84657361	236	4604										
GPR112	139378	broad.mit.edu	37	chrX	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	catatcgtgtacacacaccaGtgtccatccagttggtgact	8	12	0	1	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_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M	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		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M	p.V1243M	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	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	7	72	---	---	---	---	A	135429592	G	A	135429592	3	1	85	1	0	0	0	0	1	0	0	0	6629	1029	36	2	3737	2	GPR112	23	135429592	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	64816393	135429592	19840968	237	4605										
SLITRK4	139065	broad.mit.edu	37	chrX	142716669	142716669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0252100840336134	6	1	0.416489361702128	2.37993920972644	0.294859725098851	0.619909502262444	1	0	ataaacacattggaatccctGctagggaataattcatccag	7	9	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.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			Somatic				SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	WXS	Illumina GAIIx	Phase_I	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	17	63	---	---	---	---	A	142716669	G	A	142716669	2	1	85	1	0	0	0	0	0	0	0	1	14745	1310	46	2		2	SLITRK4	23	142716669	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7287077	142716669	12553891	238	4606										
AHDC1	27245	broad.mit.edu	37	chr1	27874814	27874814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccaccgccccgtccacctcgCggctgccggggcccagtgct	12	21	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			Somatic				AHDC1_ENST00000247087.5_Silent_p.P1271P	p.P1271P	NM_001029882.2	NP_001025053.1	WXS	Illumina GAIIx	Phase_I	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	29	105	---	---	---	---	T	27874814	C	T	27874814	2	4	86	1	0	0	0	0	0	0	0	1	412	755	27	2		2	AHDC1	1	27874814	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		27874814	221375807	1	4607										
CELSR2	1952	broad.mit.edu	37	chr1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctgctggtgggcggtttcAagtgcgattgcccatctgga	14	10	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.chr1:109803759A>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		Somatic					p.K1352E	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	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	34	130	---	---	---	---	G	109803759	A	G	109803759	3	3	86	1	0	0	0	0	1	0	0	0	3222	131	5	2	4064	2	CELSR2	1	109803759	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	81928945	109803759	139446862	2	4608										
CSDE1	7812	broad.mit.edu	37	chr1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcgctgcacttgccagtgcGctgattaagaatcactgaga	12	10	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.chr1:115262240G>A	ENST00000358528.4	-	18	2602	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000438362.2_Missense_Mutation_p.R772C|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C	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		Somatic				CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	p.R772C	NM_001242891.1	NP_001229820.1	WXS	Illumina GAIIx	Phase_I	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	7	101	---	---	---	---	A	115262240	G	A	115262240	3	1	86	1	0	0	0	0	1	0	0	0	3929	1087	38	2	232	2	CSDE1	1	115262240	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	5458481	115262240	133988381	3	4609										
KIAA1614	57710	broad.mit.edu	37	chr1	180885314	180885314	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccaagacagggagtggaacAgccagccccgtggaggggac	16	12	0	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.chr1:180885314A>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			Somatic					p.T25T	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	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	11	52	---	---	---	---	G	180885314	A	G	180885314	2	3	86	1	0	0	0	0	0	0	0	1	8248	175	7	2		2	KIAA1614	1	180885314	Silent	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	65623074	180885314	68365307	4	4610										
TRIP12	9320	broad.mit.edu	37	chr2	230724288	230724288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagcagatgatgaactgcagCttctaagaggttagataaga	11	6	1	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.chr2:230724288C>A	ENST00000283943.5	-	3	279	c.101G>T	c.(100-102)aGc>aTc	p.S34I	TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					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)		TGAACTGCAGCTTCTAAGAGG	0.373																																						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.(100-102)aGc>aTc		thyroid hormone receptor interactor 12							109	117	114					2																	230724288		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.chr2:230724288C>A	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.101G>T	2.37:g.230724288C>A	ENSP00000283943:p.Ser34Ile		Somatic				TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I|TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron	p.S34I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	WXS	Illumina GAIIx	Phase_I	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)	3	279	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	34					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.101G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648060	0.67358	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.52295	0.67;0.73	5.76	5.76	0.90799	.	0.330864	0.26377	U	0.024727	T	0.36799	0.0980	N	0.14661	0.345	0.30788	N	0.741214	B;B;B	0.32693	0.38;0.145;0.145	B;B;B	0.31812	0.136;0.085;0.046	T	0.45160	-0.9280	10	0.66056	D	0.02	.	19.9561	0.97218	0.0:1.0:0.0:0.0	.	34;76;34	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	34;76;76;76;34;34;76;34	ENSP00000283943:S34I;ENSP00000373696:S76I	ENSP00000283943:S34I	S	-	2	0	TRIP12	230432532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.479000	0.60236	2.725000	0.93324	0.591000	0.81541	AGC		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	118	4	118	---	---	---	---	A	230724288	C	A	230724288	3	1	86	1	0	0	0	0	1	0	0	0	16553	797	28	3	6033	3	TRIP12	2	230724288	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		230724288	12475085	5	4611										
BCL6	604	broad.mit.edu	37	chr3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acccttccggttcaggggtgCattggggggctcgaaatgca	15	10	1	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.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|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	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		Somatic				RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000437407.1_Intron	p.A321T	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	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	8	131	---	---	---	---	T	187447232	C	T	187447232	3	4	86	1	0	0	0	0	1	0	0	0	1376	710	25	2	1183	2	BCL6	3	187447232	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		187447232	10575198	6	4612										
TMEM192	201931	broad.mit.edu	37	chr4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gatacaatctgccaggctctGggaaggagtgctgcatgcac	13	10	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.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																																						ENST00000306480.6																			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		Somatic				TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	p.P162L	NM_001100389.1	NP_001093859.1	WXS	Illumina GAIIx	Phase_I	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	4	630	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)						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	4	27	---	---	---	---	A	166009709	G	A	166009709	3	1	86	1	0	0	0	0	1	0	0	0	16112	1348	47	2	342	2	TMEM192	4	166009709	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		166009709	25144567	7	4613										
ADAMTS19	171019	broad.mit.edu	37	chr5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgagggccaggactgcatgaCcgtgtgggaggcgggagtgt	20	7	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.chr5:129037257C>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		Somatic				ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.T1038N	NM_133638.3	NP_598377.3	WXS	Illumina GAIIx	Phase_I	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	14	85	---	---	---	---	A	129037257	C	A	129037257	3	1	86	1	0	0	0	0	1	0	0	0	264	507	18	3	3191	3	ADAMTS19	5	129037257	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		129037257	51878003	8	4614										
SLC22A4	6583	broad.mit.edu	37	chr5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcgcaacaacagtgtcccgcTgcggctgcgggacggccgcg	16	15	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.chr5:131630515T>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		Somatic				P4HA2_ENST00000471826.1_Intron	p.L69Q	NM_003059.2	NP_003050.2	WXS	Illumina GAIIx	Phase_I	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	8	15	---	---	---	---	A	131630515	T	A	131630515	3	1	86	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	9	4615										
PCDHA6	56142	broad.mit.edu	37	chr5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggaggtgatcgtggacaggCcgctgcaggttttccatgtg	16	8	0	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.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_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	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	56142							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		Somatic				PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.P113T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	WXS	Illumina GAIIx	Phase_I			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	22	218	---	---	---	---	A	140208013	C	A	140208013	3	1	86	1	0	0	0	0	1	0	0	0	11528	739	26	3	339	3	PCDHA6	5	140208013	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	8577498	140208013	40707247	10	4616										
TRIM31	11074	broad.mit.edu	37	chr6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgactttcccagcagacgAggcccgaaacagggagtggg	15	10	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.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	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		Somatic				TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	p.S365A	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	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	14	139	---	---	---	---	C	30071498	A	C	30071498	3	2	86	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	11	4617										
MAP3K5	4217	broad.mit.edu	37	chr6	136990479	136990479	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagctgccaggaggaggacCgcataattaattcctgactg	11	11	0	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.chr6:136990479C>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			Somatic					p.A436A	NM_005923.3	NP_005914.1	WXS	Illumina GAIIx	Phase_I	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	28	109	---	---	---	---	A	136990479	C	A	136990479	2	1	86	1	0	0	0	0	0	0	0	1	9253	639	23	1		1	MAP3K5	6	136990479	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	106918981	136990479	34124588	12	4618										
TBX20	57057	broad.mit.edu	37	chr7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagaaccctggatggggtgaGgaatgggtgttgctatggat	18	4	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.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		Somatic					p.P380L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	WXS	Illumina GAIIx	Phase_I	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	7	66	---	---	---	---	A	35242247	G	A	35242247	3	1	86	1	0	0	0	0	1	0	0	0	15653	1000	35	2	207	2	TBX20	7	35242247	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		35242247	123896416	13	4619										
TRYX3	136541	broad.mit.edu	37	chr7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acaatgcccacacacagcatAttttccgtgatgttgtaggt	8	10	0	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.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		Somatic				PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K	p.N177K			WXS	Illumina GAIIx	Phase_I	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	7	148	---	---	---	---	T	141952337	A	T	141952337	3	4	86	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	106710090	141952337	17186326	14	4620										
DHTKD1	55526	broad.mit.edu	37	chr10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagatcatctttgacacatTcatctctggaggttggtgtc	9	10	4	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.chr10:12148384T>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		Somatic					p.F679C	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	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	13	196	---	---	---	---	G	12148384	T	G	12148384	3	3	86	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	15	4621										
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361687	105361687	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctctccagaacctccatggaCaccccctcctggaagcctgc	7	19	1	1	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_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.V963V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR			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			Somatic				SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V	p.V1096V			WXS	Illumina GAIIx	Phase_I	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	22	105	---	---	---	---	A	105361687	C	A	105361687	2	1	86	1	0	0	0	0	0	0	0	1	14256	465	17	3		3	SH3PXD2A	10	105361687	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	93213303	105361687	30173060	16	4622										
FAT3	120114	broad.mit.edu	37	chr11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcgcataaatgaacatgcccCaacaatccatgtagtcactc	6	13	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.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000541502.1_Missense_Mutation_p.P264L|FAT3_ENST00000409404.2_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)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L	p.P264L			WXS	Illumina GAIIx	Phase_I	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	18	109	---	---	---	---	T	92086069	C	T	92086069	3	4	86	1	0	0	0	0	1	0	0	0	5691	594	21	2	793	2	FAT3	11	92086069	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		92086069	42920447	17	4623										
ATM	472	broad.mit.edu	37	chr11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	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)tggfs	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)	Somatic				ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	p.W484fs	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	86	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	18	4624										
FREM2	341640	broad.mit.edu	37	chr13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gatgatgaagtgaaaatggaCagttttgagtttcaagtcac	11	4	2	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.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		Somatic					p.D1505E	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	4	111	---	---	---	---	A	39265996	C	A	39265996	3	1	86	1	0	0	0	0	1	0	0	0	6045	477	17	3	4517	3	FREM2	13	39265996	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		39265996	75903882	19	4625										
EIF5	1983	broad.mit.edu	37	chr14	103807368	103807368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcagacaacaaggatgacgaCatcgatattgatgccattta	8	8	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.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			Somatic				EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	p.D425D	NM_001969.4	NP_001960.2	WXS	Illumina GAIIx	Phase_I	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	6	80	---	---	---	---	T	103807368	C	T	103807368	2	4	86	1	0	0	0	0	0	0	0	1	5040	477	17	2		2	EIF5	14	103807368	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		103807368	3542172	20	4626										
WDR90	197335	broad.mit.edu	37	chr16	703785	703785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttctctgcggggttggcaaGgaccaccacgggaggacggt	16	11	1	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.chr16:703785G>A	ENST00000293879.4	+	13	1419	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	WDR90_ENST00000549091.1_Silent_p.K473K|LA16c-349E10.1_ENST00000573609.1_RNA			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			Somatic				WDR90_ENST00000293879.4_Silent_p.K473K	p.K473K	NM_145294.4	NP_660337.3	WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	A	703785	G	A	703785	2	1	86	1	0	0	0	0	0	0	0	1	17334	991	35	2		2	WDR90	16	703785	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		703785	89650968	21	4627										
SEPHS2	22928	broad.mit.edu	37	chr16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgtagaggtcactcagcacgTtggcacaagctatgcgcccc	11	14	2	1	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_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I			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		Somatic				SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I	p.N157I			WXS	Illumina GAIIx	Phase_I	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	16	92	---	---	---	---	A	30456579	T	A	30456579	3	1	86	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	22	4628										
C17orf68	80169	broad.mit.edu	37	chr17	8138502	8138502	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagtgagccccaggcttctgAcgagagaagctttgaagcag	14	9	1	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.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			Somatic					p.R436R	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	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	14	91	---	---	---	---	C	8138502	A	C	8138502	2	2	86	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	23	4629			1	11		2	2	17	A		1.602222e-05
C17orf68	80169	broad.mit.edu	37	chr17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctgacgagagaagctttgaAgcagaacggcgccacggagg	15	9	1	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.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		Somatic					p.L431R	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	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	18	93	---	---	---	---	C	8138518	A	C	8138518	3	2	86	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	24	4630			1	11		2	2	17	A		1.602222e-05
MAP2K4	6416	broad.mit.edu	37	chr17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgatcaactaacacaagtcgTgaaaggagatcctccgcagc	9	11	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.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		Somatic				MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	p.V332E	NM_001281435.1	NP_001268364.1	WXS	Illumina GAIIx	Phase_I	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	14	62	---	---	---	---	A	12032526	T	A	12032526	3	1	86	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	25	4631										
GAST	2520	broad.mit.edu	37	chr17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctttgcagacgagatgcagCgactgtgtgtgtatgtgctg	14	8	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.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	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*		Somatic				JUP_ENST00000540235.1_Intron	p.R3*	NM_000805.4	NP_000796.1	WXS	Illumina GAIIx	Phase_I	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	42	342	---	---	---	---	T	39871695	C	T	39871695	4	4	86	1	0	0	0	0	0	1	0	0	6252	760	27	2	9	2	GAST	17	39871695	Nonsense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	27839169	39871695	41323515	26	4632										
TXNL1	9352	broad.mit.edu	37	chr18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcttgttgtttcctcttcaCcttgattcgactgaacaaat	5	10	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.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D|TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D	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		Somatic				TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	p.G253D	NM_004786.2	NP_004777.1	WXS	Illumina GAIIx	Phase_I	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	9	41	---	---	---	---	T	54278306	C	T	54278306	3	4	86	1	0	0	0	0	1	0	0	0	16801	507	18	2	119	2	TXNL1	18	54278306	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		54278306	23798942	27	4633										
CYP2B6	1555	broad.mit.edu	37	chr19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtccattaccgccaacatcAtctgctccatcgtctttgga	6	14	3	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.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_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		Somatic				CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	p.I179V	NM_000767.4	NP_000758.1	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	G	41512860	A	G	41512860	3	3	86	1	0	0	0	0	1	0	0	0	4164	217	8	2	549	2	CYP2B6	19	41512860	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		41512860	17616123	28	4634										
PRKCG	5582	broad.mit.edu	37	chr19	54395835	54395835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgggaccggacctcccgcaaCgacttcatgggggccatgtc	13	14	1	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.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N	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			Somatic				PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N	p.N253N	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	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	8	37	---	---	---	---	T	54395835	C	T	54395835	2	4	86	1	0	0	0	0	0	0	0	1	12512	535	19	2		2	PRKCG	19	54395835	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	12882975	54395835	4733148	29	4635										
SNAI1	6615	broad.mit.edu	37	chr20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggccttcaactgcaaatactGcaacaaggaatacctcagcc	7	13	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.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		Somatic					p.C159F	NM_005985.3	NP_005976.2	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	T	48600754	G	T	48600754	3	4	86	1	0	0	0	0	1	0	0	0	14826	1319	46	3	482	3	SNAI1	20	48600754	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		48600754	14424766	30	4636										
TCF20	6942	broad.mit.edu	37	chr22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagtctggggggttcattctGagcaccttgtgccggtgagg	17	8	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.chr22:42609619G>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		Somatic				TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	p.Q565K	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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	4	66	---	---	---	---	T	42609619	G	T	42609619	3	4	86	1	0	0	0	0	1	0	0	0	15687	1299	45	3	4227	3	TCF20	22	42609619	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		42609619	8694947	31	4637										
EFCAB7	84455	broad.mit.edu	37	chr1	64022884	64022884	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	gaattgagaacaagtggtgaGaaatgtgatgaagatgcttg	14	2	0	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.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			Somatic				EFCAB7_ENST00000461039.1_3'UTR	p.E438E	NM_032437.2	NP_115813.2	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	A	64022884	G	A	64022884	2	1	87	1	0	0	0	0	0	0	0	1	4940	933	33	2		2	EFCAB7	1	64022884	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		64022884	185227737	1	4638										
DNASE2B	58511	broad.mit.edu	37	chr1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T													0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	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.(889-894)tcttatfs		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		Somatic				DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.Y90fs	p.Y298fs	NM_021233.2	NP_067056.2	WXS	Illumina GAIIx	Phase_I	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	923_924	+			298					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	87	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	2	4639										
KPRP	448834	broad.mit.edu	37	chr1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	agcactacgtccaacaccgcGgccagttccccttcctcgcc	7	20	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.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		Somatic				KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	p.R445Q	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	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	78	157	---	---	---	---	A	152733398	G	A	152733398	3	1	87	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	3	4640										
MIA3	375056	broad.mit.edu	37	chr1	222835673	222835673	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	cagggtactcgatgaaggcaAggtaaatgcacccattttga	11	8	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.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5261A>G	c.(5260-5262)aAg>aGg	p.K1754R	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Splice_Site_p.K1754R|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Splice_Site_p.K632R	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.(5260-5262)aAg>aGg		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			Somatic				MIA3_ENST00000344441.6_Splice_Site_p.K1754R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632R	p.K1754R	NM_198551.2	NP_940953.2	WXS	Illumina GAIIx	Phase_I	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.5261A>G	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	4	236	---	---	---	---	G	222835673	A	G	222835673	5	3	87	1	0	0	0	0	0	0	1	0	9565	86	3	2	5363	2	MIA3	1	222835673	Splice_Site	SNP	A	TCGA-EJ-7784-01A-11D-2114-08	70102275	222835673	26414948	4	4641										
RYR2	6262	broad.mit.edu	37	chr1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	atctagtgcccgatcgtgttGacaaagacaaagaagctact	9	9	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.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y	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		Somatic				RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	p.D1360Y	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	18	41	---	---	---	---	T	237754210	G	T	237754210	3	4	87	1	0	0	0	0	1	0	0	0	13769	1290	45	3	4200	3	RYR2	1	237754210	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	14918537	237754210	11496411	5	4642										
SOX11	6664	broad.mit.edu	37	chr2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	gcggctgcggctcaagcacaTggccgactaccccgactaca	11	16	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.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K	AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_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		Somatic					p.M110K	NM_003108.3	NP_003099.1	WXS	Illumina GAIIx	Phase_I	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	3	45	---	---	---	---	A	5833182	T	A	5833182	3	1	87	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	6	4643										
MRPL19	9801	broad.mit.edu	37	chr2	75879653	75879653	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tcttttgaatttgtaggaagTattcttcgtgttactacagc	8	6	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.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			Somatic				MRPL19_ENST00000409374.1_Silent_p.S115S|MRPL19_ENST00000358788.6_Silent_p.S115S	p.S115S	NM_014763.3	NP_055578.2	WXS	Illumina GAIIx	Phase_I	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	62	61	---	---	---	---	C	75879653	T	C	75879653	2	2	87	1	0	0	0	0	0	0	0	1	9784	1635	57	2		2	MRPL19	2	75879653	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	70046471	75879653	167319720	7	4644										
NEB	4703	broad.mit.edu	37	chr2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-													0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	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_ENST00000427231.2_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_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)cagfs		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		Somatic				NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs	p.Q1718fs	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	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	87	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	8	4645										
CXCR2	3579	broad.mit.edu	37	chr2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	ccctgaccttgcccatctggGccgcctccaaggtgaatggc	11	16	1	2	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		Somatic					p.A105P	NM_001557.3	NP_001548.1	WXS	Illumina GAIIx	Phase_I	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	52	86	---	---	---	---	C	218999837	G	C	218999837	3	2	87	1	0	0	0	0	1	0	0	0	4091	1203	42	4	315	4	CXCR2	2	218999837	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	66477904	218999837	24199536	9	4646										
IGSF10	285313	broad.mit.edu	37	chr3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	acttgagtctttgcttataaTactaggaagcatagggttaa	9	5	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.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		Somatic					p.I1301V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	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	86	94	---	---	---	---	C	151163868	T	C	151163868	3	2	87	1	0	0	0	0	1	0	0	0	7597	1406	49	2	4030	2	IGSF10	3	151163868	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		151163868	46858562	10	4647										
ENOPH1	58478	broad.mit.edu	37	chr4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	attctacggagggagatattCttgaggtaggttacctagtt	12	5	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.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		Somatic				ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	p.L173I	NM_021204.3	NP_067027.1	WXS	Illumina GAIIx	Phase_I	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	4	176	---	---	---	---	A	83376002	C	A	83376002	3	1	87	1	0	0	0	0	1	0	0	0	5124	913	32	3	531	3	ENOPH1	4	83376002	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		83376002	107778274	11	4648										
XRCC4	7518	broad.mit.edu	37	chr5	82499425	82499425	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	gagactgatctttataagcgGtttattctggtgttgaatga	11	4	2	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.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			Somatic				XRCC4_ENST00000396027.4_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R	p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	WXS	Illumina GAIIx	Phase_I	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	10	83	---	---	---	---	T	82499425	G	T	82499425	2	4	87	1	0	0	0	0	0	0	0	1	17452	1248	44	3		3	XRCC4	5	82499425	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		82499425	98415835	12	4649										
ANKHD1	54882	broad.mit.edu	37	chr5	139887388	139887388	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	aggactgggagtaaactaggTatttctcccctgatgttggc	12	8	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.chr5:139887388T>A	ENST00000360839.2	+	20	3724	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1_ENST00000297183.6_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_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			Somatic				ANKHD1_ENST00000360839.2_Silent_p.G1190G|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G	p.G1190G	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			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	6	111	---	---	---	---	A	139887388	T	A	139887388	2	1	87	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	13	4650										
C6orf62	81688	broad.mit.edu	37	chr6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	catcagattctttccacctaGaaaacaggagacagacgatt	7	10	2	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_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	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		Somatic				C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C|C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C	p.S130C	NM_030939.4	NP_112201.1	WXS	Illumina GAIIx	Phase_I	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	15	81	---	---	---	---	C	24714586	G	C	24714586	3	2	87	1	0	0	0	0	1	0	0	0	2368	942	33	4	312	4	C6orf62	6	24714586	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		24714586	146400481	14	4651										
DNAH8	1769	broad.mit.edu	37	chr6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A													0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	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.(8836-8841)ttacatfs		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		Somatic				DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.H3164fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.H2911fs	p.H2947fs			WXS	Illumina GAIIx	Phase_I					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	87	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	14161285	38875871	132239196	15	4652										
HIP1	3092	broad.mit.edu	37	chr7	75192343	75192343	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	caccacagggctgatatgttCtgacagggctgaggctcgca	13	11	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.chr7:75192343C>A	ENST00000336926.6	-	11	942	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E306*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	306					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						CTGATATGTTCTGACAGGGCT	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.(916-918)Gaa>Taa		huntingtin interacting protein 1							80	76	77					7																	75192343		2203	4300	6503	SO:0001587	stop_gained	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.chr7:75192343C>A	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.916G>T	7.37:g.75192343C>A	ENSP00000336747:p.Glu306*		Somatic				HIP1_ENST00000434438.2_Nonsense_Mutation_p.E306*	p.E306*	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			11	942	-			306					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	ENST00000336926.6	37	c.916G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182108	0.97352	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-28.3142	18.3364	0.90290	0.0:1.0:0.0:0.0	.	.	.	.	X	306	.	ENSP00000336747:E306X	E	-	1	0	HIP1	75030279	1.000000	0.71417	0.907000	0.35723	0.372000	0.29890	5.618000	0.67722	2.572000	0.86782	0.655000	0.94253	GAA		0.582	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		4	156	4	156	---	---	---	---	A	75192343	C	A	75192343	4	1	87	1	0	0	0	0	0	1	0	0	7114	922	32	3	2281	3	HIP1	7	75192343	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		75192343	83946320	16	4653										
ACTL6B	51412	broad.mit.edu	37	chr7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	aagccccaccttgctgcagaAcgtagccgtcatgtactgga	10	13	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.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		Somatic					p.V184D	NM_016188.4	NP_057272.1	WXS	Illumina GAIIx	Phase_I	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	5	86	---	---	---	---	T	100246363	A	T	100246363	3	4	87	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	25054020	100246363	58892300	17	4654										
CSMD1	64478	broad.mit.edu	37	chr8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-													0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	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_ENST00000537824.1_Splice_Site_p.V3439fs|CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs			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.(10315-10320)tatgta>tata		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			Somatic				CSMD1_ENST00000542608.1_Splice_Site_p.V3262fs|CSMD1_ENST00000602557.1_Splice_Site_p.V3440fs|CSMD1_ENST00000537824.1_Splice_Site_p.V3439fs|CSMD1_ENST00000400186.3_Splice_Site_p.V3263fs|CSMD1_ENST00000602723.1_Splice_Site_p.V3263fs	p.V3440fs			WXS	Illumina GAIIx	Phase_I	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)	3440					Q0H0J5|Q96QU9|Q96RM4	Splice_Site	DEL	ENST00000520002.1	37	c.10317_10318delTGTA																																																																																					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	87	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	18	4655										
FBXO16	157574	broad.mit.edu	37	chr8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	caatacttaccattgattgtGcttttcttagcctagttctg	6	9	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.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V|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		Somatic				FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V|FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V	p.A278V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	WXS	Illumina GAIIx	Phase_I	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	10	127	---	---	---	---	A	28304698	G	A	28304698	3	1	87	1	0	0	0	0	1	0	0	0	5729	1319	46	2	57	2	FBXO16	8	28304698	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	25496948	28304698	118059324	19	4656										
ACTL7B	10880	broad.mit.edu	37	chr9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	gcggcccaggcaggcagctgTgagctccgggaggcccggct	18	14	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.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		Somatic					p.T319A	NM_006686.3	NP_006677.1	WXS	Illumina GAIIx	Phase_I	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	15	62	---	---	---	---	C	111617256	T	C	111617256	3	2	87	1	0	0	0	0	1	0	0	0	201	1696	59	2	296	2	ACTL7B	9	111617256	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		111617256	29596175	20	4657										
PTGS1	5742	broad.mit.edu	37	chr9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tccggagtactggaagccgaGcacatttggcggcgaggtgg	17	9	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.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N|PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N	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		Somatic				PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N	p.S547N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	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	9	138	---	---	---	---	A	125154663	G	A	125154663	3	1	87	1	0	0	0	0	1	0	0	0	12755	971	34	2	1682	2	PTGS1	9	125154663	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	13537407	125154663	16058768	21	4658										
ATM	472	broad.mit.edu	37	chr11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tttagatccttttcctgaccAtgttgtttttaaggatttgc	7	7	0	2	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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	p.H1568L	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	8	102	---	---	---	---	T	108164131	A	T	108164131	3	4	87	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		108164131	26842385	22	4659										
BUD13	84811	broad.mit.edu	37	chr11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	gctcatctctctctgagtccTtttctgctttcctcctttgc	5	15	4	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.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		Somatic				BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	p.K486R	NM_032725.3	NP_116114.1	WXS	Illumina GAIIx	Phase_I	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	3	193	---	---	---	---	C	116629027	T	C	116629027	3	2	87	1	0	0	0	0	1	0	0	0	1573	1609	56	2	418	2	BUD13	11	116629027	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	8464896	116629027	18377489	23	4660										
TRAFD1	10906	broad.mit.edu	37	chr12	112572542	112572542	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tctttggtctatttccgtagCaaaaaagaaattcctgtgtt	7	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.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.(46-48)tgC>tgA		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			Somatic				TRAFD1_ENST00000412615.2_Splice_Site_p.C16*	p.C16*	NM_001143906.1	NP_001137378.1	WXS	Illumina GAIIx	Phase_I	O14545	TRAD1_HUMAN			3	665	+			16					A8K5L6|B4DI89	Splice_Site	SNP	ENST00000257604.5	37	c.48C>A	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	4	105	---	---	---	---	A	112572542	C	A	112572542	5	1	87	1	0	0	0	0	0	0	1	0	16444	724	25	3	54	3	TRAFD1	12	112572542	Splice_Site	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		112572542	21279353	24	4661										
SUPT16H	11198	broad.mit.edu	37	chr14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tatttgggcgaatgtatagaTctttcagtttcggattactc	9	6	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.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		Somatic					p.D664V	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	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	7	55	---	---	---	---	A	21829070	T	A	21829070	3	1	87	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	25	4662										
LRP10	26020	broad.mit.edu	37	chr14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	ctggatatacacacctagccTcagtctcccacccccagtcc	5	19	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.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		Somatic				LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	p.S213P	NM_014045.3	NP_054764.2	WXS	Illumina GAIIx	Phase_I	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	3	189	---	---	---	---	C	23344794	T	C	23344794	3	2	87	1	0	0	0	0	1	0	0	0	8952	1551	54	2	655	2	LRP10	14	23344794	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	1515724	23344794	84004746	26	4663										
UBR1	197131	broad.mit.edu	37	chr15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	ggctttaccttcaaccaggaCcactcggcattctctgattc	7	14	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.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		Somatic				UBR1_ENST00000382177.2_3'UTR	p.V1676L	NM_174916.2	NP_777576.1	WXS	Illumina GAIIx	Phase_I	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	4	94	---	---	---	---	G	43242542	C	G	43242542	3	3	87	1	0	0	0	0	1	0	0	0	16898	507	18	4	231	4	UBR1	15	43242542	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		43242542	59288850	27	4664										
ATP8B4	79895	broad.mit.edu	37	chr15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	atatagcccagctattcgttCatccctctcttctgtggcag	7	13	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.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*		Somatic				ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	p.E627*	NM_024837.2	NP_079113.2	WXS	Illumina GAIIx	Phase_I	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	4	176	---	---	---	---	A	50212487	C	A	50212487	4	1	87	1	0	0	0	0	0	1	0	0	1197	835	29	3	1743	3	ATP8B4	15	50212487	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	6969945	50212487	52318905	28	4665										
ZNF597	146434	broad.mit.edu	37	chr16	3487540	3487540	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tcaggcttgccttcctctccTgttgataaaaacaaaagaaa	6	10	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.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			Somatic						NM_152457.1	NP_689670.1	WXS	Illumina GAIIx	Phase_I	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	13	31	---	---	---	---	G	3487540	T	G	3487540	5	3	87	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		3487540	86867213	29	4666										
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859051	67859051	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tcttgccaggtgaccaaactGaggaagaacttggctgagga	13	8	1	4	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_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	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			Somatic				TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000415766.3_Silent_p.L161L|TSNAXIP1_ENST00000561639.1_Silent_p.L230L	p.L176L	NM_018430.2	NP_060900.2	WXS	Illumina GAIIx	Phase_I	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	5	72	---	---	---	---	T	67859051	G	T	67859051	2	4	87	1	0	0	0	0	0	0	0	1	16629	1277	45	3		3	TSNAXIP1	16	67859051	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	64371511	67859051	22495702	30	4667										
TUSC5	286753	broad.mit.edu	37	chr17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	attacctcatcctggccgtcGtcgcctgcttctgccccgtc	8	18	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.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		Somatic					p.V110I	NM_172367.2	NP_758955.2	WXS	Illumina GAIIx	Phase_I	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	10	127	---	---	---	---	A	1183623	G	A	1183623	3	1	87	1	0	0	0	0	1	0	0	0	16776	1145	40	2	330	2	TUSC5	17	1183623	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		1183623	80011587	31	4668										
DNAH9	1770	broad.mit.edu	37	chr17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	ttcaagcttttgatgatgcaCctggcttggagcatgccttt	10	9	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.chr17:11535997C>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																																						ENST00000262442.4																			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		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	p.P538T	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				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	47	78	---	---	---	---	A	11535997	C	A	11535997	3	1	87	1	0	0	0	0	1	0	0	0	4608	507	18	3	1642	3	DNAH9	17	11535997	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	10352374	11535997	69659213	32	4669										
CDK12	51755	broad.mit.edu	37	chr17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	ctatggggagctggggccagGaaccactggggccagcagct	17	11	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.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)	Somatic				CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	p.G1446E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	35	70	---	---	---	---	A	37687433	G	A	37687433	3	1	87	1	0	0	0	0	1	0	0	0	3128	1174	41	2	4391	2	CDK12	17	37687433	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	26151436	37687433	43507777	33	4670										
MED26	9441	broad.mit.edu	37	chr19	16688032	16688032	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	2	1	1.63492063492063	2.45238095238095	1.22619047619048	1	1	0	tccaggcggctgccctctggGcctgcatgcccactgccatc	11	18	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.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	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			Somatic				CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	p.G203G	NM_004831.3	NP_004822.2	WXS	Illumina GAIIx	Phase_I	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	10	143	---	---	---	---	T	16688032	G	T	16688032	2	4	87	1	0	0	0	0	0	0	0	1	9444	1190	42	3		3	MED26	19	16688032	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		16688032	42440951	34	4671										
NCDN	23154	broad.mit.edu	37	chr1	36028872	36028872	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagatcctgatcaaggaaggGgccccctcgcttctgtgcaa	12	12	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.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			Somatic				NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	p.G485G	NM_014284.2	NP_055099.1	WXS	Illumina GAIIx	Phase_I	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	13	48	---	---	---	---	T	36028872	G	T	36028872	2	4	88	1	0	0	0	0	0	0	0	1	10214	1219	43	1		1	NCDN	1	36028872	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		36028872	213221749	1	4672										
MYEOV2	150678	broad.mit.edu	37	chr2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctctgcatctggtaaacAttagcgcctccgccccctgc	8	16	2	0	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		Somatic					p.M156T	NM_138336.1	NP_612209.1	WXS	Illumina GAIIx	Phase_I	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	4	117	---	---	---	---	G	241066272	A	G	241066272	3	3	88	1	0	0	0	0	1	0	0	0	10026	217	8	2	295	2	MYEOV2	2	241066272	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		241066272	2133101	2	4673										
SCN10A	6336	broad.mit.edu	37	chr3	38802756	38802756	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacatttatttttgaggttGcccttgaagagttgcagccc	9	9	0	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.chr3:38802756G>T	ENST00000449082.2	-	6	809	c.810C>A	c.(808-810)ggC>ggA	p.G270G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	270					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)	TTTTGAGGTTGCCCTTGAAGA	0.473																																						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.(808-810)ggC>ggA		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)						121	103	109					3																	38802756		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38802756G>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.810C>A	3.37:g.38802756G>T			Somatic					p.G270G	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	6	809	-			270					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.810C>A	CCDS33736.1																																																																																				0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		4	51	4	51	---	---	---	---	T	38802756	G	T	38802756	2	4	88	1	0	0	0	0	0	0	0	1	13912	1306	46	3		3	SCN10A	3	38802756	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		38802756	159219674	3	4674										
CCDC66	285331	broad.mit.edu	37	chr3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccgttctatgactgctcTcttggacccagctcagattg	8	13	4	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.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		Somatic				CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H	p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	WXS	Illumina GAIIx	Phase_I	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	18	76	---	---	---	---	A	56627995	T	A	56627995	3	1	88	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	17825239	56627995	141394435	4	4675										
KDR	3791	broad.mit.edu	37	chr4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgatatccggactggtagCcgcttgtctggtttgagcct	13	9	1	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.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)	Somatic				RP11-530I17.1_ENST00000511222.1_RNA	p.G1304D	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	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	5	111	---	---	---	---	T	55946268	C	T	55946268	3	4	88	1	0	0	0	0	1	0	0	0	8139	739	26	2	163	2	KDR	4	55946268	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		55946268	135208008	5	4676										
FAM8A1	51439	broad.mit.edu	37	chr6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatataatagaagaaatagAtgaagacacatcaatggaag	8	3	1	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		Somatic					p.D293G	NM_016255.2	NP_057339.1	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	G	17605181	A	G	17605181	3	3	88	1	0	0	0	0	1	0	0	0	5649	333	12	2	888	2	FAM8A1	6	17605181	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		17605181	153509886	6	4677										
MUC17	140453	broad.mit.edu	37	chr7	100681501	100681501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaactgctgaaggtaccagCataccaacttcaactcttag	6	12	2	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.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			Somatic					p.S2268S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	42	270	---	---	---	---	T	100681501	C	T	100681501	2	4	88	1	0	0	0	0	0	0	0	1	9974	709	25	2		2	MUC17	7	100681501	Silent	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		100681501	58457162	7	4678										
LAMB1	3912	broad.mit.edu	37	chr7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagctcggcaatgatcacatCccagagagcaaagcactggt	10	12	1	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.chr7:107580636C>T	ENST00000222399.6	-	25	3789	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	CTB-13F3.1_ENST00000608515.1_RNA|LAMB1_ENST00000393561.1_Missense_Mutation_p.D1211N	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		Somatic				LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N	p.D1211N			WXS	Illumina GAIIx	Phase_I	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	11	94	---	---	---	---	T	107580636	C	T	107580636	3	4	88	1	0	0	0	0	1	0	0	0	8610	855	30	2	1841	2	LAMB1	7	107580636	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	6899135	107580636	51558027	8	4679										
C9orf43	257169	broad.mit.edu	37	chr9	116191656	116191656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggaggaccagtcctctgGggcagagtgagaagcctctg	16	9	2	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.chr9:116191656G>T	ENST00000288462.4	+	14	1822	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V	C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	459										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CAGTCCTCTGGGGCAGAGTGA	0.527																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(1375-1377)gGg>gTg		chromosome 9 open reading frame 43							30	32	31					9																	116191656		2203	4299	6502	SO:0001583	missense	257169							g.chr9:116191656G>T	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1376G>T	9.37:g.116191656G>T	ENSP00000288462:p.Gly459Val		Somatic				C9orf43_ENST00000374165.1_Missense_Mutation_p.G459V	p.G459V	NM_152786.1	NP_689999.1	WXS	Illumina GAIIx	Phase_I	Q8TAL5	CI043_HUMAN			14	1822	+			459						Missense_Mutation	SNP	ENST00000288462.4	37	c.1376G>T	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	5.998	0.368059	0.11352	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.51574	0.7;0.7	3.84	-0.819	0.10829	.	0.865766	0.09625	N	0.777004	T	0.28863	0.0716	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.20907	-1.0261	10	0.44086	T	0.13	-0.5938	4.3248	0.11034	0.275:0.0:0.554:0.171	.	459	Q8TAL5	CI043_HUMAN	V	459	ENSP00000363280:G459V;ENSP00000288462:G459V	ENSP00000288462:G459V	G	+	2	0	C9orf43	115231477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.153000	0.11137	-1.287000	0.01368	GGG		0.527	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		3	31	3	31	---	---	---	---	T	116191656	G	T	116191656	3	4	88	1	0	0	0	0	1	0	0	0	2483	1232	43	1	1426	1	C9orf43	9	116191656	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		116191656	25021775	9	4680										
PDE6C	5146	broad.mit.edu	37	chr10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccattagcaagacttcatgGttcttctattttggagaggc	9	8	3	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.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		Somatic					p.G626A	NM_006204.3	NP_006195.3	WXS	Illumina GAIIx	Phase_I	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	8	37	---	---	---	---	C	95405746	G	C	95405746	3	2	88	1	0	0	0	0	1	0	0	0	11647	1261	44	4	1935	4	PDE6C	10	95405746	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		95405746	40129001	10	4681										
ZIC5	85416	broad.mit.edu	37	chr13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgaatcttgcagtagtagGgcttgtcactggtgtggaca	13	8	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.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		Somatic					p.P550R	NM_033132.3	NP_149123.2	WXS	Illumina GAIIx	Phase_I	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	19	81	---	---	---	---	C	100617974	G	C	100617974	3	2	88	1	0	0	0	0	1	0	0	0	17679	1232	43	4	346	4	ZIC5	13	100617974	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		100617974	14551904	11	4682										
ANKFN1	162282	broad.mit.edu	37	chr17	54558083	54558083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgaatctatggaaagtgtGgatcatacttctgactgccc	9	9	4	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.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			Somatic				ANKFN1_ENST00000318698.2_Silent_p.V668V	p.V668V			WXS	Illumina GAIIx	Phase_I	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	13	116	---	---	---	---	A	54558083	G	A	54558083	2	1	88	1	0	0	0	0	0	0	0	1	625	1335	47	2		2	ANKFN1	17	54558083	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		54558083	26637127	12	4683										
CLTC	1213	broad.mit.edu	37	chr17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgttactgcacctcatgaaGccacagctggaataattgga	9	9	1	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.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		Somatic				CLTC_ENST00000393043.1_Missense_Mutation_p.A311T|CLTC_ENST00000579456.1_Intron	p.A311T	NM_004859.3	NP_004850.1	WXS	Illumina GAIIx	Phase_I	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	15	51	---	---	---	---	A	57733350	G	A	57733350	3	1	88	1	0	0	0	0	1	0	0	0	3566	971	34	2	953	2	CLTC	17	57733350	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	3175267	57733350	23461860	13	4684										
ZNF396	252884	broad.mit.edu	37	chr18	32949299	32949299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtatgggttcgtcgatgCtgaatcagaattgcgcttcg	12	9	1	2	rs535231827		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.chr18:32949299C>A	ENST00000589332.1	-	4	1019	c.888G>T	c.(886-888)caG>caT	p.Q296H	ZNF396_ENST00000306346.1_Missense_Mutation_p.Q296H			Q96N95	ZN396_HUMAN	zinc finger protein 396	296					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)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTCGTCGATGCTGAATCAGAA	0.448																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(886-888)caG>caT		zinc finger protein 396							96	93	94					18																	32949299		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949299C>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"-", "Zinc fingers, C2H2-type"	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.888G>T	18.37:g.32949299C>A	ENSP00000466500:p.Gln296His		Somatic				ZNF396_ENST00000589332.1_Missense_Mutation_p.Q296H	p.Q296H	NM_145756.2	NP_665699.1	WXS	Illumina GAIIx	Phase_I	Q96N95	ZN396_HUMAN			4	1019	-			296					A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.888G>T		.	.	.	.	.	.	.	.	.	.	C	7.606	0.673805	0.14841	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.36157	1.27	3.96	2.15	0.27550	.	0.000000	0.35436	U	0.003207	T	0.42743	0.1216	L	0.35487	1.065	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.14727	-1.0462	10	0.42905	T	0.14	.	8.2139	0.31499	0.0:0.7965:0.0:0.2035	.	296	Q96N95-3	.	H	296	ENSP00000302310:Q296H	ENSP00000302310:Q296H	Q	-	3	2	ZNF396	31203297	0.000000	0.05858	0.998000	0.56505	0.394000	0.30568	-1.553000	0.02174	0.445000	0.26639	0.650000	0.86243	CAG		0.448	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		3	48	3	48	---	---	---	---	A	32949299	C	A	32949299	3	1	88	1	0	0	0	0	1	0	0	0	17879	796	28	3	121	3	ZNF396	18	32949299	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		32949299	45127949	14	4685										
GEMIN7	79760	broad.mit.edu	37	chr19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacaatgcaaactccagtgAacattcccgtgcctgtgctc	8	13	0	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.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA	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	79760				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		Somatic				GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586744.1_RNA	p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	WXS	Illumina GAIIx	Phase_I	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	35	134	---	---	---	---	G	45593388	A	G	45593388	3	3	88	1	0	0	0	0	1	0	0	0	6333	246	9	2	18	2	GEMIN7	19	45593388	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		45593388	13535595	15	4686										
SSX5	6758	broad.mit.edu	37	chrX	48054234	48054234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatagatgattttctccgaGgctttcatcttttcccactc	5	12	3	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.chrX:48054234G>A	ENST00000376923.1	-	2	125	c.126C>T	c.(124-126)gcC>gcT	p.A42A	SSX5_ENST00000311798.1_Silent_p.A83A|SSX5_ENST00000347757.1_Silent_p.A42A			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			Somatic				SSX5_ENST00000376923.1_Silent_p.A42A|SSX5_ENST00000347757.1_Silent_p.A42A	p.A83A	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	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	14	30	---	---	---	---	A	48054234	G	A	48054234	2	1	88	1	0	0	0	0	0	0	0	1	15207	987	35	2		2	SSX5	23	48054234	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		48054234	107216326	16	4687										
KIF17	57576	broad.mit.edu	37	chr1	21040007	21040007	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatcttcattgtagatctcCaggtaggaggcccggaccag	11	11	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.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			Somatic				KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L	p.L140L			WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	G	21040007	C	G	21040007	2	3	89	1	0	0	0	0	0	0	0	1	8279	581	21	4		4	KIF17	1	21040007	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		21040007	228210614	1	4688										
TMEM48	55706	broad.mit.edu	37	chr1	54284690	54284690	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctaaccaggaacagtgaTtccacacaactgtgtttaac	6	10	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.chr1:54284690T>C	ENST00000371429.3	-	6	1255	c.657A>G	c.(655-657)gaA>gaG	p.E219E	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000480952.1_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			Somatic				NDC1_ENST00000234725.8_Silent_p.E104E|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Silent_p.E219E|NDC1_ENST00000537333.1_5'UTR	p.E219E	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	WXS	Illumina GAIIx	Phase_I					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	3	34	---	---	---	---	C	54284690	T	C	54284690	2	2	89	1	0	0	0	0	0	0	0	1	16169	1490	52	2		2	TMEM48	1	54284690	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	33244683	54284690	194965931	2	4689										
USP33	23032	broad.mit.edu	37	chr1	78194272	78194272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaaatctacatccgactgGctcttgtcttcttccattgt	6	11	4	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.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000357428.1_Silent_p.S312S|USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000370792.3_Silent_p.S312S	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	86	---	---	---	---	A	78194272	G	A	78194272	2	1	89	1	0	0	0	0	0	0	0	1	17061	1194	42	2		2	USP33	1	78194272	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	23909582	78194272	171056349	3	4690										
COL11A1	1301	broad.mit.edu	37	chr1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctgagataccttgaggaCctggatcaccctaaagaata	8	11	1	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.chr1:103427811C>A	ENST00000370096.3	-	40	3347	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1024V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V	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		Somatic				COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V	p.G1024V	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	A	103427811	C	A	103427811	3	1	89	1	0	0	0	0	1	0	0	0	3667	507	18	3	2497	3	COL11A1	1	103427811	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	25233539	103427811	145822810	4	4691										
AMPD1	270	broad.mit.edu	37	chr1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattaggatagacgtaaactAcaccgtccttcattttgagg	8	9	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.chr1:115223006A>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		Somatic				AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	p.V243A	NM_001172626.1	NP_001166097.1	WXS	Illumina GAIIx	Phase_I	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	30	101	---	---	---	---	G	115223006	A	G	115223006	3	3	89	1	0	0	0	0	1	0	0	0	585	391	14	2	1646	2	AMPD1	1	115223006	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	11795195	115223006	134027615	5	4692										
HMCN1	83872	broad.mit.edu	37	chr1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactgtgcgcagtgatgggaGcctccatattgaaagagttc	12	9	0	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		Somatic				HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	p.S944N	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	3	58	---	---	---	---	A	185953341	G	A	185953341	3	1	89	1	0	0	0	0	1	0	0	0	7220	971	34	2	2905	2	HMCN1	1	185953341	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	70730335	185953341	63297280	6	4693										
AVPR1B	553	broad.mit.edu	37	chr1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaaaccttgctcatggatTctgggcctctgtgggatgcc	12	11	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.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		Somatic					p.S3P	NM_000707.3	NP_000698.1	WXS	Illumina GAIIx	Phase_I	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	20	445	---	---	---	---	C	206224447	T	C	206224447	3	2	89	1	0	0	0	0	1	0	0	0	1232	1783	62	2	9	2	AVPR1B	1	206224447	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	20271106	206224447	43026174	7	4694										
ATP6V1C2	245973	broad.mit.edu	37	chr2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacaaggaagggggccttttCactgtgactctgtttcgaaa	12	8	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.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		Somatic				ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	p.F224L	NM_144583.3	NP_653184.2	WXS	Illumina GAIIx	Phase_I	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	4	194	---	---	---	---	A	10914947	C	A	10914947	3	1	89	1	0	0	0	0	1	0	0	0	1181	825	29	3	702	3	ATP6V1C2	2	10914947	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		10914947	232284426	8	4695										
IWS1	55677	broad.mit.edu	37	chr2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgaaacttttttctgtccAtatggctgtctgaatggaag	10	6	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.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		Somatic				AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	p.M355T	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	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	24	142	---	---	---	---	G	128262415	A	G	128262415	3	3	89	1	0	0	0	0	1	0	0	0	7931	217	8	2	1443	2	IWS1	2	128262415	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	117347468	128262415	114936958	9	4696										
BSN	8927	broad.mit.edu	37	chr3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccacccaacagcctggtcCgcaaggtgaagcggacactg	12	14	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.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		Somatic					p.R2891C	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	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	6	178	---	---	---	---	T	49697949	C	T	49697949	3	4	89	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	10	4697										
PLK4	10733	broad.mit.edu	37	chr4	128818021	128818021	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggttgtgcaggcaggagtGtcttctatcagttatacctc	11	8	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.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000514379.1_Silent_p.V882V|PLK4_ENST00000515069.1_Silent_p.V845V	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	10733				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			Somatic				PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V	p.V923V	NM_014264.4	NP_055079.3	WXS	Illumina GAIIx	Phase_I	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	5	94	---	---	---	---	T	128818021	G	T	128818021	2	4	89	1	0	0	0	0	0	0	0	1	12098	1364	48	3		3	PLK4	4	128818021	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		128818021	62336255	11	4698										
SH3TC2	79628	broad.mit.edu	37	chr5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtagaaattcagttcatccTtttctcctggctcataaccc	6	12	4	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.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R	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		Somatic				SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000538184.1_5'UTR	p.K284R	NM_024577.3	NP_078853.2	WXS	Illumina GAIIx	Phase_I	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	3	198	---	---	---	---	C	148418008	T	C	148418008	3	2	89	1	0	0	0	0	1	0	0	0	14262	1609	56	2	3055	2	SH3TC2	5	148418008	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08		148418008	32497252	12	4699										
MCM3	4172	broad.mit.edu	37	chr6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggcggtgtctgagctcaTgctatcctggctgcgcaggc	14	13	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.chr6:52137119T>G	ENST00000229854.7	-	12	1883	c.1807A>C	c.(1807-1809)Atg>Ctg	p.M603L	MCM3_ENST00000419835.2_Missense_Mutation_p.M557L|MCM3_ENST00000596288.1_Missense_Mutation_p.M648L			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		Somatic				MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	p.M648L	NM_002388.4	NP_002379.3	WXS	Illumina GAIIx	Phase_I	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	5	79	---	---	---	---	G	52137119	T	G	52137119	3	3	89	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		52137119	118977948	13	4700										
LMBRD1	55788	broad.mit.edu	37	chr6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccatttcacttactgtgTaagttatagctgccaacatt	5	11	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.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		Somatic				LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	p.Y211C	NM_018368.3	NP_060838.3	WXS	Illumina GAIIx	Phase_I	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	3	27	---	---	---	---	C	70447838	T	C	70447838	3	2	89	1	0	0	0	0	1	0	0	0	8842	1638	57	2	1030	2	LMBRD1	6	70447838	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	18310719	70447838	100667229	14	4701										
SEMA3D	223117	broad.mit.edu	37	chr7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatcacttccaggaattgaGcaaatcagtctggccttaag	8	11	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.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		Somatic					p.C310W	NM_152754.2	NP_689967.2	WXS	Illumina GAIIx	Phase_I	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	10	293	---	---	---	---	C	84671533	G	C	84671533	3	2	89	1	0	0	0	0	1	0	0	0	14027	963	34	4	1443	4	SEMA3D	7	84671533	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		84671533	74467130	15	4702										
SOHLH1	402381	broad.mit.edu	37	chr9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggggcagcccaccccgcaCctggcacagccccaacagtg	12	18	0	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		Somatic				SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	p.V212L	NM_001012415.2	NP_001012415	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	A	138588485	C	A	138588485	3	1	89	1	0	0	0	0	1	0	0	0	14923	507	18	3	586	3	SOHLH1	9	138588485	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		138588485	2624946	16	4703										
CCKBR	887	broad.mit.edu	37	chr11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggccgggggcttccctgtGccgcccgggggcgcctctcc	17	18	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.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_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000525462.1_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		Somatic				CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S	p.C22S			WXS	Illumina GAIIx	Phase_I	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	3	10	---	---	---	---	C	6281223	G	C	6281223	3	2	89	1	0	0	0	0	1	0	0	0	2881	1319	46	4	67	4	CCKBR	11	6281223	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		6281223	128725293	17	4704										
OR8H2	390151	broad.mit.edu	37	chr11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgtggtttccatgagcagaTtgcatttctacgactcaaac	8	10	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.chr11:55873014T>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)	Somatic					p.L166M	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	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	8	215	---	---	---	---	A	55873014	T	A	55873014	3	1	89	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	49591791	55873014	79133502	18	4705										
CDKN1B	1027	broad.mit.edu	37	chr12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT													0	0	1	0	0	0	1	1	0	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.(370-375)aactctfs		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		Somatic				CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.NS124fs	p.NS124fs	NM_004064.3	NP_004055.1	WXS	Illumina GAIIx	Phase_I	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	89	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	19	4706										
OR6C65	403282	broad.mit.edu	37	chr12	55794777	55794777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggttttctcattattttTccccccgtgattatgggcct	8	11	1	1	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			Somatic					p.F155F	NM_001005518.1	NP_001005518.1	WXS	Illumina GAIIx	Phase_I	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	4	151	---	---	---	---	C	55794777	T	C	55794777	2	2	89	1	0	0	0	0	0	0	0	1	11195	1780	62	2		2	OR6C65	12	55794777	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	42923633	55794777	78057118	20	4707										
PRMT5	10419	broad.mit.edu	37	chr14	23395506	23395506	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcagccccaatttcaagagCtacatgaggcaaaagaaaaa	8	9	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.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Splice_Site|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Splice_Site	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			Somatic				PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_Splice_Site		NM_006109.3	NP_006100.2	WXS	Illumina GAIIx	Phase_I	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	3	57	---	---	---	---	G	23395506	C	G	23395506	5	3	89	1	0	0	0	0	0	0	1	0	12539	811	28	4	1344	4	PRMT5	14	23395506	Splice_Site	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		23395506	83954034	21	4708										
MOAP1	64112	broad.mit.edu	37	chr14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcgacagtaattaaaggaTtgtttatcttgaggacacga	9	6	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.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			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		Somatic				MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S	p.N225S			WXS	Illumina GAIIx	Phase_I	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	29	95	---	---	---	---	C	93649914	T	C	93649914	3	2	89	1	0	0	0	0	1	0	0	0	9680	1493	52	2	385	2	MOAP1	14	93649914	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	70254408	93649914	13699626	22	4709										
TP53BP1	7158	broad.mit.edu	37	chr15	43748185	43748186	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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_ENST00000382044.4_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_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)atgfs	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		Somatic				TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.M874fs|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.M874fs	p.M869fs	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	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	89	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		43748185	58783207	23	4710										
CHD2	1106	broad.mit.edu	37	chr15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagattcaagactgggaaagAaaggaggtatgtgtatttgg	14	2	1	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.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000420239.2_Missense_Mutation_p.K274E|CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	97	---	---	---	---	G	93485179	A	G	93485179	3	3	89	1	0	0	0	0	1	0	0	0	3325	247	9	2	846	2	CHD2	15	93485179	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	49736994	93485179	9046213	24	4711										
PARD6A	50855	broad.mit.edu	37	chr16	67694962	67694962	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcccggccgcagaggacTccggcgcgcagtcccgatag	15	15	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.chr16:67694962T>C	ENST00000219255.3	+	1	101	c.21T>C	c.(19-21)acT>acC	p.T7T	ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Silent_p.T7T|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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	C	67694962	T	C	67694962	2	2	89	1	0	0	0	0	0	0	0	1	11445	1538	54	2		2	PARD6A	16	67694962	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08		67694962	22659791	25	4712										
PDPR	55066	broad.mit.edu	37	chr16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctgtggcctatcacctcTccaaaatggggtggaaggat	11	10	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.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		Somatic				PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62A	p.S62A	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	G	70154579	T	G	70154579	3	3	89	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	26	4713										
FZR1	51343	broad.mit.edu	37	chr19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgcaagatctccaagatcCccttcaaggtgctggacgcg	10	15	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.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		Somatic				FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	p.P175A	NM_016263.3	NP_057347.2	WXS	Illumina GAIIx	Phase_I	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	4	55	---	---	---	---	G	3527681	C	G	3527681	3	3	89	1	0	0	0	0	1	0	0	0	6138	623	22	4	545	4	FZR1	19	3527681	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		3527681	55601302	27	4714										
EMR2	30817	broad.mit.edu	37	chr19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccttcacagacggtattgTttgggccattgggggacccc	13	11	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.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353005.1_Intron	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		Somatic				EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000392964.3_Intron	p.N206I	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	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	12	185	---	---	---	---	A	14877064	T	A	14877064	3	1	89	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	28	4715										
ITGB2	3689	broad.mit.edu	37	chr21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcgcccagcttcccgtcgcCcgcgaaatggaagccgtcat	12	16	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.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397857.1_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		Somatic				ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C	p.G271C			WXS	Illumina GAIIx	Phase_I	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	15	52	---	---	---	---	A	46320321	C	A	46320321	3	1	89	1	0	0	0	0	1	0	0	0	7894	623	22	1	1538	1	ITGB2	21	46320321	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		46320321	1809574	29	4716										
APOBEC3B	9582	broad.mit.edu	37	chr22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtggagcgcctggacaatGgcacctgggtcctgatggac	16	10	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.chr22:39385568G>A	ENST00000333467.3	+	5	721	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_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		Somatic				APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S	p.G226S			WXS	Illumina GAIIx	Phase_I	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	13	28	---	---	---	---	A	39385568	G	A	39385568	3	1	89	1	0	0	0	0	1	0	0	0	790	1348	47	2	694	2	APOBEC3B	22	39385568	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		39385568	11918998	30	4717										
GLRA2	2742	broad.mit.edu	37	chrX	14627241	14627241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttttggataaatatggatGcagcccctgccagggtcgca	11	11	0	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.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		Somatic				GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	p.A282T	NM_002063.3	NP_002054.1	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	A	14627241	G	A	14627241	3	1	89	1	0	0	0	0	1	0	0	0	6455	1319	46	2	942	2	GLRA2	23	14627241	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		14627241	140643319	31	4718										
GRIA3	2892	broad.mit.edu	37	chrX	122616696	122616696	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caatgtggcaggcgttttctAtatacttgtcggaggtctgg	13	7	2	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.chrX:122616696A>C	ENST00000371251.1	+	15	2538	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000264357.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR			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		Somatic				GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S	p.Y829S	NM_000828.4	NP_000819	WXS	Illumina GAIIx	Phase_I	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	9	54	---	---	---	---	C	122616696	A	C	122616696	3	2	89	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	32	4719										
MST4	51765	broad.mit.edu	37	chrX	131188793	131188793	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaatcatagaccttgaggaAgccgaagatgaaatagaaga	10	5	1	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:131188793A>G	ENST00000354719.6	+	3	393	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000394335.2_Intron|MST4_ENST00000394334.2_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_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	51765				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			Somatic				MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000496850.1_Silent_p.E59E|MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000394335.2_Intron	p.E59E	NM_016542.3	NP_057626.2	WXS	Illumina GAIIx	Phase_I	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	23	20	---	---	---	---	G	131188793	A	G	131188793	2	3	89	1	0	0	0	0	0	0	0	1	9892	69	3	2		2	MST4	23	131188793	Silent	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	8572097	131188793	24081767	33	4720										
SRPK3	26576	broad.mit.edu	37	chrX	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctgggctccgacgacgagGaacaggaagaccccaaagac	12	12	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.chrX:153046771G>T	ENST00000370101.3	+	2	206	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000489426.1_Nonsense_Mutation_p.E121*|SRPK3_ENST00000393786.3_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*		Somatic				SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*	p.E121*			WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	T	153046771	G	T	153046771	4	4	89	1	0	0	0	0	0	1	0	0	15160	1175	41	3	166	3	SRPK3	23	153046771	Nonsense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	21857978	153046771	2223789	34	4721										
CFH	3075	broad.mit.edu	37	chr1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tggttacaatggttggtctgAtttacccatatgttatggta	10	5	1	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.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		Somatic					p.D560G	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	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	15	137	---	---	---	---	G	196684882	A	G	196684882	3	3	90	1	0	0	0	0	1	0	0	0	3283	333	12	2	1739	2	CFH	1	196684882	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		196684882	52565739	1	4722										
MEMO1	51072	broad.mit.edu	37	chr2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tgcacatcgagagaggggcaCatgatgagaaggcccaagga	15	8	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.chr2:32145945C>A	ENST00000295065.5	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|AL121652.1_ENST00000408399.1_RNA|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L|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																																						ENST00000295065.5																			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		Somatic				MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L	p.V83L	NM_015955.2	NP_057039.1	WXS	Illumina GAIIx	Phase_I	Q9Y316	MEMO1_HUMAN			4	556	-	Acute lymphoblastic leukemia(172;0.155)							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	31	69	---	---	---	---	A	32145945	C	A	32145945	3	1	90	1	0	0	0	0	1	0	0	0	9471	478	17	3	670	3	MEMO1	2	32145945	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		32145945	211053428	2	4723										
HEATR5B	54497	broad.mit.edu	37	chr2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	cctgctggcggacacctttaGcttgtttaacacattcagca	8	12	1	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.chr2:37280709G>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		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	p.A814V	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	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	12	36	---	---	---	---	A	37280709	G	A	37280709	3	1	90	1	0	0	0	0	1	0	0	0	7032	971	34	2	3854	2	HEATR5B	2	37280709	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	5134764	37280709	205918664	3	4724										
DNAH1	25981	broad.mit.edu	37	chr3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	cgaatatgatgacatcccctAcaaggtgggcctggggcaga	13	10	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.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		Somatic					p.Y3869F	NM_015512.4	NP_056327	WXS	Illumina GAIIx	Phase_I	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	80	197	---	---	---	---	T	52430809	A	T	52430809	3	4	90	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	4	4725										
UMPS	7372	broad.mit.edu	37	chr3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tgctgaagagcgggctttccTcccccatctacatcgatctg	9	14	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_ENST00000536109.1_5'UTR|MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR	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		Somatic				UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	p.S34P	NM_000373.3	NP_000364.1	WXS	Illumina GAIIx	Phase_I	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	3	98	---	---	---	---	C	124449418	T	C	124449418	3	2	90	1	0	0	0	0	1	0	0	0	16978	1551	54	2	102	2	UMPS	3	124449418	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	72018609	124449418	73573012	5	4726										
ADAM29	11086	broad.mit.edu	37	chr4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tgtgtacaccacaccgtagtTgtgcaattgttactttcatg	8	9	1	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.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_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|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	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		Somatic				ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R	p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	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	40	90	---	---	---	---	C	175897613	T	C	175897613	3	2	90	1	0	0	0	0	1	0	0	0	247	1812	63	2	939	2	ADAM29	4	175897613	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08		175897613	15256663	6	4727										
CSF1R	1436	broad.mit.edu	37	chr5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	ctcaggctggtggtcagaaaAgggtcccaggtaggtccagt	15	9	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.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		Somatic				CSF1R_ENST00000543093.1_Intron	p.F342L	NM_005211.3	NP_005202.2	WXS	Illumina GAIIx	Phase_I	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	4	254	---	---	---	---	G	149452922	A	G	149452922	3	3	90	1	0	0	0	0	1	0	0	0	3932	72	3	2	1958	2	CSF1R	5	149452922	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		149452922	31462338	7	4728										
PTK7	5754	broad.mit.edu	37	chr6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	gaagctgagatccagccacaGacccaggtcacacttcgttg	10	13	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_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_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	5754				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		Somatic	OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H	p.Q143H	NM_002821.4	NP_002812.2	WXS	Illumina GAIIx	Phase_I	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	31	78	---	---	---	---	C	43097526	G	C	43097526	3	2	90	1	0	0	0	0	1	0	0	0	12765	933	33	4	439	4	PTK7	6	43097526	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		43097526	128017541	8	4729										
SERINC1	57515	broad.mit.edu	37	chr6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	agttacagtggagttgtttcCactaggacagcatcggcata	11	8	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.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																																						ENST00000339697.4																			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		Somatic					p.G32R	NM_020755.2	NP_065806.1	WXS	Illumina GAIIx	Phase_I	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	2	178	-								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	53	108	---	---	---	---	T	122779772	C	T	122779772	3	4	90	1	0	0	0	0	1	0	0	0	14079	603	21	2	1303	2	SERINC1	6	122779772	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	79682246	122779772	48335295	9	4730										
DAPK1	1612	broad.mit.edu	37	chr9	90252885	90252885	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	ggtggcgagctgtttgacttCttagctgaaaaggaatcttt	12	6	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.chr9:90252885C>T	ENST00000408954.3	+	4	647	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000469640.2_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000358077.5_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			Somatic				DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F	p.F104F			WXS	Illumina GAIIx	Phase_I	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	8	93	---	---	---	---	T	90252885	C	T	90252885	2	4	90	1	0	0	0	0	0	0	0	1	4235	912	32	2		2	DAPK1	9	90252885	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		90252885	50960546	10	4731										
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643175	1643175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tgcagcagcagatgggcacaCagcagctggagccacagccc	13	14	0	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.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		Somatic					p.C50Y	NM_001012709.1	NP_001012727	WXS	Illumina GAIIx	Phase_I	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	73	149	---	---	---	---	T	1643175	C	T	1643175	3	4	90	1	0	0	0	0	1	0	0	0	8563	478	17	2	541	2	KRTAP5-4	11	1643175	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		1643175	133363341	11	4732										
DLG2	1740	broad.mit.edu	37	chr11	83243769	83243769	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	acccctttcgaatcaatcacTccaggtttggcattaaactt	5	12	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.chr11:83243769T>C	ENST00000532653.1	-	16	2162	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000398309.2_Silent_p.G620G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000280241.8_Silent_p.G659G			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			Somatic				DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G	p.G620G	NM_001364.3	NP_001355.2	WXS	Illumina GAIIx	Phase_I	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	40	57	---	---	---	---	C	83243769	T	C	83243769	2	2	90	1	0	0	0	0	0	0	0	1	4555	1538	54	2		2	DLG2	11	83243769	Silent	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	81600594	83243769	51762747	12	4733										
CYP27B1	1594	broad.mit.edu	37	chr12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	cctctgcctctcgccgctccAcgtgcctctgagctgcgtgg	11	18	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.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		Somatic					p.V268A	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	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	41	84	---	---	---	---	G	58158697	A	G	58158697	3	3	90	1	0	0	0	0	1	0	0	0	4159	159	6	2	743	2	CYP27B1	12	58158697	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		58158697	75693198	13	4734										
ACSS3	79611	broad.mit.edu	37	chr12	81648693	81648693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	acgtagaagaaatgctgaagCaagcataatgagtttgtctt	10	5	1	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.chr12:81648693C>A	ENST00000548058.1	+	16	2963	c.2053C>A	c.(2053-2055)Caa>Aaa	p.Q685K	ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K|ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	685						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						AATGCTGAAGCAAGCATAATG	0.303																																						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.(2053-2055)Caa>Aaa		acyl-CoA synthetase short-chain family member 3							93	96	95					12																	81648693		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81648693C>A		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.2053C>A	12.37:g.81648693C>A	ENSP00000449535:p.Gln685Lys		Somatic				ACSS3_ENST00000261206.3_Missense_Mutation_p.Q684K|ACSS3_ENST00000548324.1_Missense_Mutation_p.Q367K	p.Q685K			WXS	Illumina GAIIx	Phase_I	Q9H6R3	ACSS3_HUMAN			16	2963	+			685					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.2053C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306922	0.01353	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.25250	1.83;1.83;1.81	5.95	1.9	0.25705	.	0.596516	0.18257	N	0.146780	T	0.12689	0.0308	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19192	-1.0313	10	0.15952	T	0.53	-2.1878	16.9362	0.86203	0.7213:0.2786:0.0:0.0	.	367;685	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	K	685;684;367	ENSP00000449535:Q685K;ENSP00000261206:Q684K;ENSP00000448965:Q367K	ENSP00000261206:Q684K	Q	+	1	0	ACSS3	80172824	0.429000	0.25530	0.076000	0.20297	0.019000	0.09904	0.664000	0.25068	0.069000	0.16605	0.650000	0.86243	CAA		0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		3	62	3	62	---	---	---	---	A	81648693	C	A	81648693	3	1	90	1	0	0	0	0	1	0	0	0	190	711	25	3	2115	3	ACSS3	12	81648693	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	23489996	81648693	52203202	14	4735										
POSTN	10631	broad.mit.edu	37	chr13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	caagcctaattgggccacaaGatccgtgaaggtggtttgct	12	9	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.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		Somatic				POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I|POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I	p.L387I	NM_006475.2	NP_006466.2	WXS	Illumina GAIIx	Phase_I	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	12	34	---	---	---	---	T	38158190	G	T	38158190	3	4	90	1	0	0	0	0	1	0	0	0	12259	942	33	3	1411	3	POSTN	13	38158190	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		38158190	77011688	15	4736										
CEBPE	1053	broad.mit.edu	37	chr14	23587880	23587880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	gtgtgccacttggtactgcaGgggattgtagctgcctcggc	15	10	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.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			Somatic					p.L141L	NM_001805.3	NP_001796.2	WXS	Illumina GAIIx	Phase_I	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	15	21	---	---	---	---	A	23587880	G	A	23587880	2	1	90	1	0	0	0	0	0	0	0	1	3202	991	35	2		2	CEBPE	14	23587880	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		23587880	83761660	16	4737										
CRAMP1L	57585	broad.mit.edu	37	chr16	1709961	1709962	+	Missense_Mutation	DNP	GA	GA	AG													0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	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.chr16:1709961_1709962GA>AG	ENST00000397412.3	+	11	2409_2410	c.2310_2311GA>AG	c.(2308-2313)ggGAag>ggAGag	p.K771E	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E			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						CGCCCCCAGGGAAGGTGGTGAC	0.639																																						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|c.(2311-2313)Aag>Gag		Crm, cramped-like (Drosophila)																																				SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1709961G>A|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	Exception_encountered	16.37:g.1709961_1709962delinsAG	ENSP00000380559:p.Lys771Glu		Somatic				CRAMP1L_ENST00000293925.5_Silent_p.G770G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.G148G|CRAMP1L_ENST00000436138.3_Silent_p.G767G|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E	p.G770G|p.K771E			WXS	Illumina GAIIx	Phase_I	Q96RY5	CRML_HUMAN			11	2409|2410	+			770|771					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent|Missense_Mutation	SNP	ENST00000397412.3	37	c.2310G>A|c.2311A>G	CCDS10440.2																																																																																				0.639	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			18	35|34	18	34	---	---	---	---	AG	1709962	GA	AG	1709961	3	1	90	1	0	0	0	0	1	0	0	0	3846	1161	41	2	2348	2	CRAMP1L	16	1709961	Missense_Mutation	DNP	GA	TCGA-EJ-7788-01A-11D-2114-08		1709961	88644792	17	4738										
KRI1	65095	broad.mit.edu	37	chr19	10670558	10670558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tcctgtttcttcagaaacagCtccccttcgtctgaggagtc	8	13	3	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.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			Somatic				KRI1_ENST00000361821.5_Silent_p.E287E	p.E291E	NM_023008.3	NP_075384.3	WXS	Illumina GAIIx	Phase_I	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	11	27	---	---	---	---	T	10670558	C	T	10670558	2	4	90	1	0	0	0	0	0	0	0	1	8444	796	28	2		2	KRI1	19	10670558	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		10670558	48458425	18	4739										
MED26	9441	broad.mit.edu	37	chr19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-													0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	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)acafs		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		Somatic				CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs	p.T51fs	NM_004831.3	NP_004822.2	WXS	Illumina GAIIx	Phase_I	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	90	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	19	4740										
ZNF615	284370	broad.mit.edu	37	chr19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	aagtgatgctgcagaggatcAtcaattttcctgatttctag	9	7	3	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.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E			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		Somatic				ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E	p.D85E			WXS	Illumina GAIIx	Phase_I	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	6	37	---	---	---	---	T	52498074	A	T	52498074	3	4	90	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	20	4741										
ATP9A	10079	broad.mit.edu	37	chr20	50244193	50244193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	ttctttgccaccacgagcacCcgcagcccttctcgggccat	8	18	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.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			Somatic				ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R	p.R597R	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	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	104	264	---	---	---	---	A	50244193	C	A	50244193	2	1	90	1	0	0	0	0	0	0	0	1	1198	610	22	1		1	ATP9A	20	50244193	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		50244193	12781327	21	4742										
CYP24A1	1591	broad.mit.edu	37	chr20	52779274	52779274	+	Silent	SNP	C	C	T													0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	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	1591				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			Somatic				CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	p.Q324Q	NM_000782.4	NP_000773.2	WXS	Illumina GAIIx	Phase_I	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	8	59	---	---	---	---	T	52779274	C	T	52779274	2	4	90	1	0	0	0	0	0	0	0	1	4154	796	28	2		2	CYP24A1	20	52779274	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	2535081	52779274	10246246	22	4743	8	2								
CYP24A1	1591	broad.mit.edu	37	chr20	52779277	52779277	+	Silent	SNP	G	G	T													0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	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	1591				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			Somatic				CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	p.L323L	NM_000782.4	NP_000773.2	WXS	Illumina GAIIx	Phase_I	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	9	59	---	---	---	---	T	52779277	G	T	52779277	2	4	90	1	0	0	0	0	0	0	0	1	4154	1161	41	3		3	CYP24A1	20	52779277	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	3	52779277	10246243	23	4744	8	2								
TOP3B	8940	broad.mit.edu	37	chr22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	caggtccagctcctggcgagCatccactgagagcgcctcgt	12	15	0	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.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	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		Somatic				TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T|TOP3B_ENST00000413067.2_Intron	p.A180T	NM_003935.3	NP_003926.1	WXS	Illumina GAIIx	Phase_I	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	7	72	---	---	---	---	T	22324625	C	T	22324625	3	4	90	1	0	0	0	0	1	0	0	0	16365	710	25	2	2102	2	TOP3B	22	22324625	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		22324625	28979941	24	4745										
GK	2710	broad.mit.edu	37	chrX	30737631	30737631	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	attgggagcccagcgcaagaGggtaagtattgaaaatatgg	14	5	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: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.(1132-1134)Ggg>Cgg		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			Somatic				GK_ENST00000378946.3_Splice_Site_p.G384R|GK_ENST00000378945.3_Splice_Site_p.G378R|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179R	p.G378R	NM_001128127.2	NP_001121599.1	WXS	Illumina GAIIx	Phase_I	P32189	GLPK_HUMAN			14	1311	+			384					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Splice_Site	SNP	ENST00000378943.3	37	c.1132G>C	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	29	15	---	---	---	---	C	30737631	G	C	30737631	5	2	90	1	0	0	0	0	0	0	1	0	6420	1014	35	4	1208	4	GK	23	30737631	Splice_Site	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		30737631	124532929	25	4746										
MAGEC3	139081	broad.mit.edu	37	chrX	140983190	140983190	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	2	1	1.83235867446394	4.12280701754386	1.17794486215539	1	1	0	tcttagacctggccaatcctCaaggtaagggccctaaggga	11	11	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.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_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_5'Flank|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		Somatic				MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	p.Q349K	NM_138702.1	NP_619647.1	WXS	Illumina GAIIx	Phase_I	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	45	27	---	---	---	---	A	140983190	C	A	140983190	3	1	90	1	0	0	0	0	1	0	0	0	9182	827	29	3	1063	3	MAGEC3	23	140983190	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	110245559	140983190	14287370	26	4747										
NFYC	4802	broad.mit.edu	37	chr1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	aggatttggtggtactagcaGcagtgatgcccagcaaagcc	13	9	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.chr1:41204550G>A	ENST00000308733.5	+	1	41	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000425457.2_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_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_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372652.1_Missense_Mutation_p.S12N|NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_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		Somatic				NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N	p.S12N			WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	A	41204550	G	A	41204550	3	1	91	1	0	0	0	0	1	0	0	0	10391	971	34	2	37	2	NFYC	1	41204550	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		41204550	208046071	1	4748										
DOCK7	85440	broad.mit.edu	37	chr1	62941378	62941378	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ttgcccattaatggacttacCtcttctttatgagtgacatt	6	9	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.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.(5926-5928)gaG>gaC		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			Somatic				DOCK7_ENST00000340370.5_Splice_Site_p.E1956D|DOCK7_ENST00000489185.1_5'UTR	p.E1976D	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	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.5928G>C	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	48	72	---	---	---	---	G	62941378	C	G	62941378	5	3	91	1	0	0	0	0	0	0	1	0	4692	695	24	4	481	4	DOCK7	1	62941378	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	21736828	62941378	186309243	2	4749										
GTF2B	2959	broad.mit.edu	37	chr1	89319013	89319013	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	attgtaacatcagcaacaccAgcaatatctccaatttctaa	3	11	3	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.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			Somatic					p.A278A	NM_001514.5	NP_001505.1	WXS	Illumina GAIIx	Phase_I	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	49	59	---	---	---	---	T	89319013	A	T	89319013	2	4	91	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	4750										
OR2L2	26246	broad.mit.edu	37	chr1	248201938	248201938	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	atggcctatgatcgttatgtGgccatttgctttcctctcca	8	11	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.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			Somatic				OR2L13_ENST00000366478.2_Intron	p.V123V	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	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	57	62	---	---	---	---	T	248201938	G	T	248201938	2	4	91	1	0	0	0	0	0	0	0	1	11007	1335	47	1		1	OR2L2	1	248201938	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	158882925	248201938	1048683	4	4751										
APOB	338	broad.mit.edu	37	chr2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ggtttgagagttgtgcatttGcttgaaaatcaaaattgaga	11	3	1	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.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		Somatic					p.A2810E	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	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	42	115	---	---	---	---	T	21231311	G	T	21231311	3	4	91	1	0	0	0	0	1	0	0	0	785	1319	46	3	5278	3	APOB	2	21231311	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		21231311	221968062	5	4752										
C3orf79	152118	broad.mit.edu	37	chr3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	tcagttgccatcttctgcctActcctgagctttcatccaag	6	14	4	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.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		Somatic				RP11-23D24.2_ENST00000493214.2_RNA	p.T30P	NM_001101337.1	NP_001094807.1	WXS	Illumina GAIIx	Phase_I	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	124	154	---	---	---	---	C	153202433	A	C	153202433	3	2	91	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		153202433	44819997	6	4753										
ELOVL6	79071	broad.mit.edu	37	chr4	110972803	110972803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ttcatagtcatgaaccaaccTcccccggcaaccatgtcttt	5	15	3	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.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			Somatic				ELOVL6_ENST00000302274.3_Silent_p.G163G	p.G163G			WXS	Illumina GAIIx	Phase_I	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	3	53	---	---	---	---	C	110972803	T	C	110972803	2	2	91	1	0	0	0	0	0	0	0	1	5078	1538	54	2		2	ELOVL6	4	110972803	Silent	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		110972803	80181473	7	4754										
DNAH5	1767	broad.mit.edu	37	chr5	13700941	13700941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	gacttcattgcaaagcaccaTattgtccagagcccagcctt	7	13	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.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		Somatic					p.M4511V	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	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	138	70	---	---	---	---	C	13700941	T	C	13700941	3	2	91	1	0	0	0	0	1	0	0	0	4604	1406	49	2	351	2	DNAH5	5	13700941	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		13700941	167214319	8	4755										
SYCP2L	221711	broad.mit.edu	37	chr6	10928671	10928671	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ccgttcggggtccctgacttCccgcaacaacctgtgagtac	10	15	0	2	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	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_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			Somatic				RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.F492F	NM_001040274.2	NP_001035364.2	WXS	Illumina GAIIx	Phase_I	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	24	25	---	---	---	---	T	10928671	C	T	10928671	2	4	91	1	0	0	0	0	0	0	0	1	15430	854	30	2		2	SYCP2L	6	10928671	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		10928671	160186396	9	4756										
FTSJD2	23070	broad.mit.edu	37	chr6	37426394	37426394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	acttgcctttgcagaagccaCtggtgaaggaccgggaagct	13	10	0	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											c.(784-786)Ctg>Ttg		cap methyltransferase 1							57	52	54					6																	37426394		2203	4300	6503	SO:0001819	synonymous_variant	23070							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			Somatic					p.L262L	NM_015050.2	NP_055865.1	WXS	Illumina GAIIx	Phase_I					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	13	22	---	---	---	---	T	37426394	C	T	37426394	2	4	91	1	0	0	0	0	0	0	0	1	6091	564	20	2		2	FTSJD2	6	37426394	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	26497723	37426394	133688673	10	4757										
SDK1	221935	broad.mit.edu	37	chr7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	aaaccatggccccaaccattGtggttcccccgggcaacaga	9	15	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.chr7:3990593G>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		Somatic				SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	p.V296L	NM_152744.3	NP_689957.3	WXS	Illumina GAIIx	Phase_I	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	30	49	---	---	---	---	T	3990593	G	T	3990593	3	4	91	1	0	0	0	0	1	0	0	0	13968	1377	48	3	908	3	SDK1	7	3990593	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		3990593	155148070	11	4758										
KRIT1	889	broad.mit.edu	37	chr7	91870306	91870306	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	tttaaaaaagaagtttcctaCctctgataccctggtttgca	6	9	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.chr7:91870306C>T	ENST00000340022.2	-	5	1281		c.e5+1		KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000394507.1_Splice_Site|KRIT1_ENST00000394503.2_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			Somatic				KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site		NM_194456.1	NP_919438.1	WXS	Illumina GAIIx	Phase_I	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	28	67	---	---	---	---	T	91870306	C	T	91870306	5	4	91	1	0	0	0	0	0	0	1	0	8445	521	18	2	2007	2	KRIT1	7	91870306	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	87879713	91870306	67268357	12	4759										
LRRC67	286187	broad.mit.edu	37	chr8	67922953	67922953	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	atttctctttacactaccttCacatgcagaagttggttgtc	6	10	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.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			Somatic				PPP1R42_ENST00000324682.5_Silent_p.V183V	p.V183V			WXS	Illumina GAIIx	Phase_I	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	11	69	---	---	---	---	G	67922953	C	G	67922953	2	3	91	1	0	0	0	0	0	0	0	1	9019	813	29	4		4	LRRC67	8	67922953	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		67922953	78441069	13	4760										
PYROXD2	84795	broad.mit.edu	37	chr10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	atgtggtgtgcctcttaccaTtgatcttggtgacaggcgac	12	9	2	2	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		Somatic				PYROXD2_ENST00000483923.1_5'UTR	p.N378S	NM_032709.2	NP_116098.2	WXS	Illumina GAIIx	Phase_I	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	10	166	---	---	---	---	C	100150769	T	C	100150769	3	2	91	1	0	0	0	0	1	0	0	0	12867	1493	52	2	636	2	PYROXD2	10	100150769	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		100150769	35383978	14	4761										
FNBP4	23360	broad.mit.edu	37	chr11	47758292	47758292	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ctgaattttcagcaccaattGctgtaaaaaaaacatgtaaa	5	7	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.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.(1456-1458)gCa>gGa		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			Somatic				FNBP4_ENST00000534003.1_5'UTR	p.A486G	NM_015308.2	NP_056123.2	WXS	Illumina GAIIx	Phase_I	Q8N3X1	FNBP4_HUMAN			9	1469	-			486					Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1457C>G	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	3	0	---	---	---	---	C	47758292	G	C	47758292	5	2	91	1	0	0	0	0	0	0	1	0	5967	1333	46	4	1632	4	FNBP4	11	47758292	Splice_Site	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		47758292	87248224	15	4762										
SSH3	54961	broad.mit.edu	37	chr11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	tggtgagacaggccagcgtgCatgacagtggagaggagggc	19	7	0	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.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y	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		Somatic				SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR	p.H651Y	NM_017857.3	NP_060327.3	WXS	Illumina GAIIx	Phase_I	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	37	47	---	---	---	---	T	67079329	C	T	67079329	3	4	91	1	0	0	0	0	1	0	0	0	15185	710	25	2	2005	2	SSH3	11	67079329	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	19321037	67079329	67927187	16	4763										
FOXA1	3169	broad.mit.edu	37	chr14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	caagtagcagccgttctcgaAcatgttgccggagtccgggt	13	11	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.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|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)		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		Somatic				FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	p.F254V	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	10	16	---	---	---	---	C	38061229	A	C	38061229	3	2	91	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	17	4764										
APBA2	321	broad.mit.edu	37	chr15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ccctcccgacaggaaaccatGatggaccacgccttgcgtac	9	16	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.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I			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		Somatic				APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I	p.M449I			WXS	Illumina GAIIx	Phase_I	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	3	26	---	---	---	---	T	29393810	G	T	29393810	3	4	91	1	0	0	0	0	1	0	0	0	757	1290	45	3	1373	3	APBA2	15	29393810	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		29393810	73137582	18	4765										
INO80	54617	broad.mit.edu	37	chr15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	gaggttcttgggattcccagGaacattatttcccttgctca	9	10	2	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.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		Somatic				INO80_ENST00000401393.3_Missense_Mutation_p.P1525T	p.P1525T			WXS	Illumina GAIIx	Phase_I	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	29	43	---	---	---	---	T	41272519	G	T	41272519	3	4	91	1	0	0	0	0	1	0	0	0	7746	1174	41	3	101	3	INO80	15	41272519	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	11878709	41272519	61258873	19	4766										
LCMT2	9836	broad.mit.edu	37	chr15	43620821	43620821	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	aatctgatactcagagctcaAtcctgtagtcaaattgatca	6	9	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_ENST00000428046.3_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Silent_p.L202L|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR	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			Somatic				LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR	p.L623L	NM_014793.4	NP_055608.2	WXS	Illumina GAIIx	Phase_I	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	42	34	---	---	---	---	G	43620821	A	G	43620821	2	3	91	1	0	0	0	0	0	0	0	1	8679	98	4	2		2	LCMT2	15	43620821	Silent	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	2348302	43620821	58910571	20	4767										
VPS33B	26276	broad.mit.edu	37	chr15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	cattgagtagcaccttcaggCtcttgtcagaggatgtgact	11	9	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.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		Somatic				VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I|VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I	p.S274I	NM_018668.3	NP_061138.3	WXS	Illumina GAIIx	Phase_I	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	4	106	---	---	---	---	A	91549633	C	A	91549633	3	1	91	1	0	0	0	0	1	0	0	0	17199	797	28	3	1084	3	VPS33B	15	91549633	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	47928812	91549633	10981759	21	4768										
CSNK2A2	1459	broad.mit.edu	37	chr16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	gagaccactggaaagcacagCattgtctgcacaaggctggg	13	10	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.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		Somatic				CSNK2A2_ENST00000566813.1_5'UTR	p.A340S	NM_001896.2	NP_001887.1	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	A	58198010	C	A	58198010	3	1	91	1	0	0	0	0	1	0	0	0	3958	710	25	3	38	3	CSNK2A2	16	58198010	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		58198010	32156743	22	4769										
NETO1	81832	broad.mit.edu	37	chr18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	cataatttgtatagactccaCaattccttcggaaccgccca	5	13	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.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	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		Somatic				NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	p.V183L	NM_138966.3	NP_620416	WXS	Illumina GAIIx	Phase_I	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	3	58	---	---	---	---	A	70461444	C	A	70461444	3	1	91	1	0	0	0	0	1	0	0	0	10339	478	17	3	1074	3	NETO1	18	70461444	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		70461444	7615804	23	4770										
MUC16	94025	broad.mit.edu	37	chr19	9057080	9057080	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	gccttggatggctccgagtgGattgaaacagaggaatatag	14	6	0	2	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			Somatic					p.I10122I	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	15	32	---	---	---	---	T	9057080	G	T	9057080	2	4	91	1	0	0	0	0	0	0	0	1	9973	1164	41	3		3	MUC16	19	9057080	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		9057080	50071903	24	4771										
TGFB1	80776	broad.mit.edu	37	chr19	41858655	41858655	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ggcgtagtagtcggcctcagGctcgggctccggttctgcac	15	13	2	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.chr19:41858655G>T	ENST00000243578.3	-	0	1027				CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_5'Flank|TMEM91_ENST00000539627.1_Intron|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			Somatic	OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	p.P99T	NM_000660.4	NP_000651.3	WXS	Illumina GAIIx	Phase_I	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	13	24	---	---	---	---	T	41858655	G	T	41858655	1	4	91	0	1	0	0	0	0	0	0	0	15813	1203	42	3		3	TGFB1	19	41858655	IGR	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	32801575	41858655	17270328	25	4772										
APOC4	346	broad.mit.edu	37	chr19	45445567	45445567	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	agaaacaggctccaggccctGcctgccctgtgcctctgcgt	11	16	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.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				breast(1)|endometrium(1)|lung(2)	4						c.(31-33)ctG>ctT		apolipoprotein C-IV							65	53	57					19																	45445567		2203	4300	6503	SO:0001819	synonymous_variant	346				lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity	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			Somatic				APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L	p.L11L			WXS	Illumina GAIIx	Phase_I	P55056	APOC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)	1	73	+	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)						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	3	30	---	---	---	---	T	45445567	G	T	45445567	2	4	91	1	0	0	0	0	0	0	0	1	800	1306	46	3		3	APOC4	19	45445567	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	3586912	45445567	13683416	26	4773										
ACTR5	79913	broad.mit.edu	37	chr20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ccatccgcctgccgaagcagGcctcccgctcctcagatgcc	9	20	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.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		Somatic					p.A583T	NM_024855.3	NP_079131.3	WXS	Illumina GAIIx	Phase_I	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	19	13	---	---	---	---	A	37400382	G	A	37400382	3	1	91	1	0	0	0	0	1	0	0	0	215	1203	42	2	1781	2	ACTR5	20	37400382	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		37400382	25625138	27	4774										
SRPX	8406	broad.mit.edu	37	chrX	38016273	38016273	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.797222222222222	2.39166666666667	0	1	1	0	ccgttctgacacccacattgAcgttcatggctgtaatcaga	8	12	3	3	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_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|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		Somatic				SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D	p.V322D	NM_006307.4	NP_006298.1	WXS	Illumina GAIIx	Phase_I	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	7	30	---	---	---	---	T	38016273	A	T	38016273	3	4	91	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	28	4775										
HTR1D	3352	broad.mit.edu	37	chr1	23520101	23520101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	accgagggaatgtagaaggcCccacaggtggagtagatggt	16	7	0	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			Somatic				HTR1D_ENST00000314113.3_Silent_p.G204G	p.G204G	NM_000864.4	NP_000855.1	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	T	23520101	C	T	23520101	2	4	92	1	0	0	0	0	0	0	0	1	7438	610	22	2		2	HTR1D	1	23520101	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		23520101	225730520	1	4776										
B3GALT2	8707	broad.mit.edu	37	chr1	193150383	193150383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	tgtaactccttgtggtgacaGgtctgtgttattagagttag	12	5	1	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.chr1:193150383G>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		Somatic				CDC73_ENST00000367435.3_Intron	p.L104V	NM_003783.3	NP_003774.1	WXS	Illumina GAIIx	Phase_I	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	12	94	---	---	---	---	C	193150383	G	C	193150383	3	2	92	1	0	0	0	0	1	0	0	0	1248	991	35	4	962	4	B3GALT2	1	193150383	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	169630282	193150383	56100238	2	4777										
IPO9	55705	broad.mit.edu	37	chr1	201821311	201821311	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	gagatgtataagatcttcacCatggctgaggtatgaaatct	10	6	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.chr1:201821311C>A	ENST00000361565.4	+	5	663	c.594C>A	c.(592-594)acC>acA	p.T198T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	198					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						AGATCTTCACCATGGCTGAGG	0.438																																						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.(592-594)acC>acA		importin 9							89	86	87					1																	201821311		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201821311C>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.594C>A	1.37:g.201821311C>A			Somatic				IPO9_ENST00000464348.1_3'UTR	p.T198T	NM_018085.4	NP_060555.2	WXS	Illumina GAIIx	Phase_I	Q96P70	IPO9_HUMAN			5	663	+			198					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.594C>A	CCDS1415.1																																																																																				0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		3	28	3	28	---	---	---	---	A	201821311	C	A	201821311	2	1	92	1	0	0	0	0	0	0	0	1	7799	581	21	1		1	IPO9	1	201821311	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	8670928	201821311	47429310	3	4778										
HSPD1	3329	broad.mit.edu	37	chr2	198353198	198353198	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ttcttttcattcacttcaacAtcacttgtcccaccaaccta	1	15	5	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.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			Somatic				HSPD1_ENST00000345042.2_Silent_p.D411D	p.D411D	NM_002156.4	NP_002147.2	WXS	Illumina GAIIx	Phase_I	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	8	112	---	---	---	---	G	198353198	A	G	198353198	2	3	92	1	0	0	0	0	0	0	0	1	7428	214	8	2		2	HSPD1	2	198353198	Silent	SNP	A	TCGA-EJ-7791-01A-11D-2114-08		198353198	44846175	4	4779										
SCN10A	6336	broad.mit.edu	37	chr3	38835295	38835295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ccgatcagttctgctgggagCtcaccatagaacttgggcag	12	11	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.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			Somatic					p.E69E	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	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	19	177	---	---	---	---	T	38835295	C	T	38835295	2	4	92	1	0	0	0	0	0	0	0	1	13912	796	28	2		2	SCN10A	3	38835295	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		38835295	159187135	5	4780										
TBCCD1	55171	broad.mit.edu	37	chr3	186276229	186276229	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	attatgacaattagatttttCagtcaggtcaggagactgag	10	5	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_ENST00000446782.1_Missense_Mutation_p.E61K|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K	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		Somatic				TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K|TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K	p.E157K	NM_001134415.1	NP_001127887.1	WXS	Illumina GAIIx	Phase_I	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	13	140	---	---	---	---	T	186276229	C	T	186276229	3	4	92	1	0	0	0	0	1	0	0	0	15629	835	29	2	1224	2	TBCCD1	3	186276229	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	147440934	186276229	11746201	6	4781										
AASDH	132949	broad.mit.edu	37	chr4	57244445	57244445	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	agatccatgtgttcttctgcTttttcttcattgacatgctc	6	10	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.chr4:57244445T>G	ENST00000205214.6	-	4	717	c.537A>C	c.(535-537)aaA>aaC	p.K179N	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N|AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N	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		Somatic				AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	p.K179N	NM_181806.2	NP_861522.2	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	G	57244445	T	G	57244445	3	3	92	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	7	4782										
HSD17B11	51170	broad.mit.edu	37	chr4	88278430	88278430	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	tgtctcaatttctcaacttaCcttgtacttggatttttgat	5	8	2	1	rs199563880		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.chr4:88278430C>A	ENST00000358290.4	-	5	1011		c.e5+1		HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTCAACTTACCTTGTACTTG	0.378																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.e5+1		hydroxysteroid (17-beta) dehydrogenase 11							130	107	115					4																	88278430		2202	4300	6502	SO:0001630	splice_region_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88278430C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.695+1G>T	4.37:g.88278430C>A			Somatic				HSD17B11_ENST00000507286.1_Splice_Site|HSD17B11_ENST00000507518.1_Splice_Site		NM_016245.3	NP_057329.2	WXS	Illumina GAIIx	Phase_I	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	5	1011	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)						Q96HF6|Q9UKU4	Splice_Site	SNP	ENST00000358290.4	37		CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177427	0.57692	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5186	0.90943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSD17B11	88497454	1.000000	0.71417	0.984000	0.44739	0.614000	0.37383	4.693000	0.61753	2.653000	0.90120	0.561000	0.74099	.		0.378	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245	Intron	3	24	3	24	---	---	---	---	A	88278430	C	A	88278430	5	1	92	1	0	0	0	0	0	0	1	0	7380	521	18	3	218	3	HSD17B11	4	88278430	Splice_Site	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	31033985	88278430	102875846	8	4783										
NPY2R	4887	broad.mit.edu	37	chr4	156136067	156136067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ttgccaatccccttctctatGgctggatgaacagcaactac	7	13	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.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		Somatic				NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	p.G326C	NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	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	13	111	---	---	---	---	T	156136067	G	T	156136067	3	4	92	1	0	0	0	0	1	0	0	0	10609	1348	47	1	978	1	NPY2R	4	156136067	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	67857637	156136067	35018209	9	4784										
CREB5	9586	broad.mit.edu	37	chr7	28527795	28527795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ttccctctgatccttcagatTtatgaggaatccaagatgaa	7	9	2	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.chr7:28527795T>C	ENST00000357727.2	+	2	396	c.6T>C	c.(4-6)atT>atC	p.I2I	CREB5_ENST00000409603.1_5'Flank|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_5'UTR	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			Somatic				CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron	p.I2I	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	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	4	94	---	---	---	---	C	28527795	T	C	28527795	2	2	92	1	0	0	0	0	0	0	0	1	3860	1829	64	2		2	CREB5	7	28527795	Silent	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		28527795	130610868	10	4785										
CLCN1	1180	broad.mit.edu	37	chr7	143013473	143013473	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	gcaggcccccgccacaacgtCcaccccacacaggtaaagtg	9	18	0	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.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			Somatic					p.V56V	NM_000083.2	NP_000074	WXS	Illumina GAIIx	Phase_I	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	5	65	---	---	---	---	A	143013473	C	A	143013473	2	1	92	1	0	0	0	0	0	0	0	1	3462	842	30	3		3	CLCN1	7	143013473	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	114485678	143013473	16125190	11	4786										
UBR5	51366	broad.mit.edu	37	chr8	103298847	103298847	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	gcaggaacactgcttgctccTaaaatttttatttttaaaac	5	8	0	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.chr8:103298847T>C	ENST00000520539.1	-	38	5564		c.e38-2		UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	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			Somatic				UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site		NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	WXS	Illumina GAIIx	Phase_I	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	2	14	---	---	---	---	C	103298847	T	C	103298847	5	2	92	1	0	0	0	0	0	0	1	0	16902	1536	53	2	3531	2	UBR5	8	103298847	Splice_Site	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		103298847	43065175	12	4787										
DDX31	64794	broad.mit.edu	37	chr9	135537842	135537842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	atacctgtggagttctggaaTgtcagggttgtttttaaaca	11	5	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.chr9:135537842T>C	ENST00000372159.3	-	2	782	c.631A>G	c.(631-633)Att>Gtt	p.I211V	DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V	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		Somatic				DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000480876.1_5'UTR	p.I211V	NM_022779.7	NP_073616.6	WXS	Illumina GAIIx	Phase_I	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	14	73	---	---	---	---	C	135537842	T	C	135537842	3	2	92	1	0	0	0	0	1	0	0	0	4356	1464	51	2	2007	2	DDX31	9	135537842	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		135537842	5675589	13	4788										
PTEN	5728	broad.mit.edu	37	chr10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A													0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	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.(961-966)acaaaafs		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)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.TK321fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	92	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	14	4789										
NAALAD2	10003	broad.mit.edu	37	chr11	89880613	89880613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	cagccaagttggttcattatGatgtcctcttatcttacccc	6	12	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.chr11:89880613G>A	ENST00000534061.1	+	3	540	c.310G>A	c.(310-312)Gat>Aat	p.D104N	NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000375944.3_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	A	89880613	G	A	89880613	3	1	92	1	0	0	0	0	1	0	0	0	10128	1290	45	2	320	2	NAALAD2	11	89880613	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		89880613	45125903	15	4790										
CD163	9332	broad.mit.edu	37	chr12	7640092	7640092	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	tctgaccatttccttttccaAaacgtgctcctcctggggta	7	13	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.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_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.F671C|CD163_ENST00000432237.2_Missense_Mutation_p.F638C	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		Somatic				CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000541972.1_Missense_Mutation_p.F626C|CD163_ENST00000396620.3_Missense_Mutation_p.F671C	p.F638C	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	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	11	103	---	---	---	---	C	7640092	A	C	7640092	3	2	92	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	16	4791										
TM9SF1	10548	broad.mit.edu	37	chr14	24661453	24661453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	tgccggtagaagtggctggaCacgtagccagagatgcagca	15	9	0	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_ENST00000396854.4_Silent_p.V359V|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V|TM9SF1_ENST00000530611.1_Silent_p.V568V	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																																						ENST00000530611.1																			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			Somatic				TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000556387.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V	p.V568V			WXS	Illumina GAIIx	Phase_I	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	11	156	---	---	---	---	T	24661453	C	T	24661453	2	4	92	1	0	0	0	0	0	0	0	1	15974	465	17	2		2	TM9SF1	14	24661453	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		24661453	82688087	17	4792										
FMN1	342184	broad.mit.edu	37	chr15	33194152	33194152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	tctctacctttctgtgcaagGaggtgataccctcagaaaag	9	10	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.chr15:33194152G>T	ENST00000559047.1	-	10	3466	c.3467C>A	c.(3466-3468)tCc>tAc	p.S1156Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S933Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y			Q68DA7	FMN1_HUMAN	formin 1	1156	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)		TCTGTGCAAGGAGGTGATACC	0.398																																						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.(2797-2799)tCc>tAc		formin 1							105	100	101					15																	33194152		1853	4111	5964	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33194152G>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.3467C>A	15.37:g.33194152G>T	ENSP00000454047:p.Ser1156Tyr		Somatic				FMN1_ENST00000561249.1_Missense_Mutation_p.S1058Y|FMN1_ENST00000559047.1_Missense_Mutation_p.S1156Y	p.S933Y	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	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)	9	2797	-		all_lung(180;1.14e-07)	1156			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2798C>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078654	0.76528	.	.	ENSG00000248905	ENST00000334528	T	0.17528	2.27	6.02	6.02	0.97574	.	0.098793	0.64402	D	0.000001	T	0.49064	0.1535	M	0.82323	2.585	.	.	.	D	0.76494	0.999	D	0.79784	0.993	T	0.47935	-0.9078	9	0.72032	D	0.01	.	20.1323	0.98003	0.0:0.0:1.0:0.0	.	933	Q68DA7-5	.	Y	933	ENSP00000333950:S933Y	ENSP00000333950:S933Y	S	-	2	0	FMN1	30981444	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.327000	0.96396	2.857000	0.98124	0.650000	0.86243	TCC		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		3	34	3	34	---	---	---	---	T	33194152	G	T	33194152	3	4	92	1	0	0	0	0	1	0	0	0	5949	1174	41	3	828	3	FMN1	15	33194152	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		33194152	69337240	18	4793										
ZNF770	54989	broad.mit.edu	37	chr15	35274087	35274087	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ctgttcatgtctttttaagtGagctgactgtctaaaagatt	8	6	3	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.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		Somatic					p.H517D	NM_014106.3	NP_054825.2	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	C	35274087	G	C	35274087	3	2	92	1	0	0	0	0	1	0	0	0	18140	1290	45	4	530	4	ZNF770	15	35274087	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	2079935	35274087	67257305	19	4794										
LTK	4058	broad.mit.edu	37	chr15	41804906	41804906	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	acctccgccgtgcacttacaGatactggccagggcccggca	11	16	0	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.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_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Splice_Site_p.L120L	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.(358-360)Ctg>Ttg		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)	Somatic				LTK_ENST00000453182.2_Splice_Site_p.L120L|LTK_ENST00000355166.5_Splice_Site_p.L120L|LTK_ENST00000561619.1_Intron	p.L120L	NM_002344.5	NP_002335.2	WXS	Illumina GAIIx	Phase_I	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.358C>T	CCDS10077.1																																																																																				0.667	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		Silent	4	16	4	16	---	---	---	---	A	41804906	G	A	41804906	5	1	92	1	0	0	0	0	0	0	1	0	9080	956	33	2	2308	2	LTK	15	41804906	Splice_Site	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	6530819	41804906	60726486	20	4795										
C17orf56	146705	broad.mit.edu	37	chr17	79207240	79207240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ctccccactcacccgtgcggCcgtgttccttgctgtagccg	10	18	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.chr17:79207240C>A	ENST00000300714.3	-	7	575	c.518G>T	c.(517-519)gGc>gTc	p.G173V	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.G21V|AC027601.1_ENST00000569559.1_RNA	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		Somatic				AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.G173V	p.G21V			WXS	Illumina GAIIx	Phase_I					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	3	31	---	---	---	---	A	79207240	C	A	79207240	3	1	92	1	0	0	0	0	1	0	0	0	1864	739	26	3	1083	3	C17orf56	17	79207240	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		79207240	1987970	21	4796										
KIAA1543	57662	broad.mit.edu	37	chr19	7675491	7675491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	ggacttgctgtacgtcccacCgccactcaaggtaaggccat	10	14	1	0	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		Somatic				CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P297L	p.P324L	NM_001080429.2	NP_001073898.1	WXS	Illumina GAIIx	Phase_I	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	12	242	---	---	---	---	T	7675491	C	T	7675491	3	4	92	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	22	4797										
NWD1	284434	broad.mit.edu	37	chr19	16861005	16861005	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.173913043478261	4	0.930579858446434	2.35616438356164	1.9634703196347	2.52446183953033	0.485714285714286	1	0	caaggaggacgctgagcccgGtgcacacagatttgctctgg	14	11	1	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.chr19:16861005G>C	ENST00000552788.1	+	4	1552	c.1552G>C	c.(1552-1554)Gtg>Ctg	p.V518L	NWD1_ENST00000549814.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000524140.2_Missense_Mutation_p.V518L			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		Somatic				NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000549814.1_Missense_Mutation_p.V518L	p.V518L	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	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	4	101	---	---	---	---	C	16861005	G	C	16861005	3	2	92	1	0	0	0	0	1	0	0	0	10781	1261	44	4	1153	4	NWD1	19	16861005	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	9185514	16861005	42267978	23	4798										
RNF207	388591	broad.mit.edu	37	chr1	6270283	6270283	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	aggcagcccccctcccccagCcaatacgaagagaaggacaa	9	16	0	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.(799-801)agC>agG		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			Somatic				RNF207_ENST00000377948.2_Splice_Site_p.S40R	p.S267R	NM_207396.2	NP_997279.2	WXS	Illumina GAIIx	Phase_I	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.801C>G	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	16	44	---	---	---	---	G	6270283	C	G	6270283	5	3	93	1	0	0	0	0	0	0	1	0	13474	753	26	4	831	4	RNF207	1	6270283	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6270283	242980338	1	4799										
OR2AK2	391191	broad.mit.edu	37	chr1	248129463	248129463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	tctctttacctacacaaggcCacactccttgcgttcccctt	4	17	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.chr1:248129463C>A	ENST00000366480.3	+	1	929	c.830C>A	c.(829-831)cCa>cAa	p.P277Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	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)|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)			TACACAAGGCCACACTCCTTG	0.483																																					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.(829-831)cCa>cAa		olfactory receptor, family 2, subfamily AK, member 2							175	134	148					1																	248129463		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129463C>A	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.830C>A	1.37:g.248129463C>A	ENSP00000355436:p.Pro277Gln		Somatic				OR2L13_ENST00000366478.2_Intron	p.P277Q	NM_001004491.1	NP_001004491.1	WXS	Illumina GAIIx	Phase_I	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	929	+	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)		277					B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.830C>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139381	0.37728	.	.	ENSG00000187080	ENST00000366480	T	0.00272	8.36	3.04	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	H	0.94847	3.59	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32025	-0.9922	9	0.87932	D	0	.	8.3151	0.32095	0.0:0.7918:0.0:0.2082	.	277	Q8NG84	O2AK2_HUMAN	Q	277	ENSP00000355436:P277Q	ENSP00000355436:P277Q	P	+	2	0	OR2AK2	246196086	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.108000	0.15396	0.123000	0.18342	0.462000	0.41574	CCA		0.483	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		3	42	3	42	---	---	---	---	A	248129463	C	A	248129463	3	1	93	1	0	0	0	0	1	0	0	0	10986	594	21	1	832	1	OR2AK2	1	248129463	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08	241859180	248129463	1121158	2	4800										
ZNF197	10168	broad.mit.edu	37	chr3	44684197	44684197	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	ttcattctgaagaagagcctCattctgcaccagagaatcca	7	11	4	4	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_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			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			Somatic				ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383745.2_Intron	p.L525L			WXS	Illumina GAIIx	Phase_I	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	17	101	---	---	---	---	T	44684197	C	T	44684197	2	4	93	1	0	0	0	0	0	0	0	1	17756	813	29	2		2	ZNF197	3	44684197	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		44684197	153338233	3	4801										
QARS	5859	broad.mit.edu	37	chr3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	catgtccacttcattcttgaTcattttgccatctgcccact	4	14	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.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000414533.1_Missense_Mutation_p.I154V|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I183V			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		Somatic				QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V	p.I165V			WXS	Illumina GAIIx	Phase_I	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	14	84	---	---	---	---	C	49140801	T	C	49140801	3	2	93	1	0	0	0	0	1	0	0	0	12871	1435	50	2	1914	2	QARS	3	49140801	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08	4456604	49140801	148881629	4	4802										
NOP16	51491	broad.mit.edu	37	chr5	175815433	175815433	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	ccggaaccccagccccctcaCcattcgatccgcggcgctgc	9	21	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.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		NOP16_ENST00000507413.1_Splice_Site|HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000510123.1_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			Somatic				NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	20	88	---	---	---	---	G	175815433	C	G	175815433	5	3	93	1	0	0	0	0	0	0	1	0	10537	521	18	4	447	4	NOP16	5	175815433	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		175815433	5099827	5	4803										
COL12A1	1303	broad.mit.edu	37	chr6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	gagtgactcaaaatctgccaCattgtatgcatgggtatcat	9	8	3	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.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M	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		Somatic				COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	p.V1358M	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	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	25	82	---	---	---	---	T	75860932	C	T	75860932	3	4	93	1	0	0	0	0	1	0	0	0	3669	478	17	2	5303	2	COL12A1	6	75860932	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		75860932	95254135	6	4804										
KIAA0776	23376	broad.mit.edu	37	chr6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	aaaagatgagcgaagaaggaAagcaacaggtaataaattgt	11	3	0	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		Somatic					p.K424R	NM_015323.4	NP_056138.1	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	G	96988523	A	G	96988523	3	3	93	1	0	0	0	0	1	0	0	0	8193	14	1	2	1313	2	KIAA0776	6	96988523	Missense_Mutation	SNP	A	TCGA-EJ-7792-01A-11D-2114-08	21127591	96988523	74126544	7	4805										
RP1	6101	broad.mit.edu	37	chr8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	acaaaatcttattgataatgCcattggtgatatatttgatc	6	5	1	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.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		Somatic					p.A1984V	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	T	55542393	C	T	55542393	3	4	93	1	0	0	0	0	1	0	0	0	13532	739	26	2	5961	2	RP1	8	55542393	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		55542393	90821629	8	4806										
MLLT3	4300	broad.mit.edu	37	chr9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	ttagcttttcacagcggaggTgattcactggtggatggcct	13	8	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.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR	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		Somatic				MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	p.H116R	NM_004529.2	NP_004520.2	WXS	Illumina GAIIx	Phase_I	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	25	109	---	---	---	---	C	20448194	T	C	20448194	3	2	93	1	0	0	0	0	1	0	0	0	9628	1696	59	2	1391	2	MLLT3	9	20448194	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08		20448194	120765237	9	4807										
HSPA12A	259217	broad.mit.edu	37	chr10	118466766	118466766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	tgtccccaagactccgggctGgagatgaatatgcagatgtg	13	9	0	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.chr10:118466766G>T	ENST00000369209.3	-	2	175	c.71C>A	c.(70-72)cCa>cAa	p.P24Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	24						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)		ACTCCGGGCTGGAGATGAATA	0.522																																						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.(70-72)cCa>cAa		heat shock 70kDa protein 12A							47	53	51					10																	118466766		1934	4139	6073	SO:0001583	missense	259217						ATP binding	g.chr10:118466766G>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.71C>A	10.37:g.118466766G>T	ENSP00000358211:p.Pro24Gln		Somatic					p.P24Q	NM_025015.2	NP_079291.2	WXS	Illumina GAIIx	Phase_I	O43301	HS12A_HUMAN		all cancers(201;0.0158)	2	175	-			24						Missense_Mutation	SNP	ENST00000369209.3	37	c.71C>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245482	0.80024	.	.	ENSG00000165868	ENST00000369209	T	0.45668	0.89	5.59	4.68	0.58851	.	0.105371	0.64402	D	0.000003	T	0.50582	0.1624	L	0.44542	1.39	0.58432	D	0.999999	D	0.59357	0.985	P	0.55303	0.773	T	0.50381	-0.8835	10	0.45353	T	0.12	.	16.6151	0.84904	0.0:0.13:0.8699:0.0	.	24	O43301	HS12A_HUMAN	Q	24	ENSP00000358211:P24Q	ENSP00000358211:P24Q	P	-	2	0	HSPA12A	118456756	1.000000	0.71417	0.827000	0.32855	0.972000	0.66771	6.787000	0.75099	1.344000	0.45657	0.563000	0.77884	CCA		0.522	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		3	20	3	20	---	---	---	---	T	118466766	G	T	118466766	3	4	93	1	0	0	0	0	1	0	0	0	7404	1348	47	1	2000	1	HSPA12A	10	118466766	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		118466766	17067981	10	4808										
MOAP1	64112	broad.mit.edu	37	chr14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	ggccatcctctggcagattaAgctctctgcgaattgttttg	10	10	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.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R|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		Somatic				MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R	p.L311R			WXS	Illumina GAIIx	Phase_I	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	16	97	---	---	---	---	C	93649656	A	C	93649656	3	2	93	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		93649656	13699884	11	4809										
TRIP10	9322	broad.mit.edu	37	chr19	6743805	6743805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	ctgcagcgcttcaaccgagaCcaagcccacttctatttttc	6	15	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.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			Somatic				TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000313244.9_Silent_p.D200D	p.D92D			WXS	Illumina GAIIx	Phase_I	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	19	72	---	---	---	---	T	6743805	C	T	6743805	2	4	93	1	0	0	0	0	0	0	0	1	16551	506	18	2		2	TRIP10	19	6743805	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6743805	52385178	12	4810										
BACE2	25825	broad.mit.edu	37	chr21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	gtggaattgaaccaagtttgTataaaggagacatctggtat	11	4	1	2			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_ENST00000328735.6_Missense_Mutation_p.Y259N|BACE2_ENST00000347667.5_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR	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																																						ENST00000347667.5																			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		Somatic				BACE2_ENST00000330333.6_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	p.Y259N	NM_138991.1	NP_620476.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z0	BACE2_HUMAN			5	1238	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)						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	8	39	---	---	---	---	A	42615330	T	A	42615330	3	1	93	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	13	4811										
CLCN4	1183	broad.mit.edu	37	chrX	10176202	10176202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	gccgtctcgttctcttttatGtggaataccacacgccctgg	9	13	2	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.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	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	1183					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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	37	60	---	---	---	---	A	10176202	G	A	10176202	3	1	93	1	0	0	0	0	1	0	0	0	3465	1377	48	2	987	2	CLCN4	23	10176202	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		10176202	145094358	14	4812										
MED12	9968	broad.mit.edu	37	chrX	70348454	70348454	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0666666666666667	1	1	0.837142857142857	0	1.172	1	1	0	gttttttcctccaggtcagtGacctatcttttcatgactcg	7	11	3	2			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:70348454G>T	ENST00000374080.3	+	24	3393	c.3361G>T	c.(3361-3363)Gac>Tac	p.D1121Y	MED12_ENST00000333646.6_Missense_Mutation_p.D1121Y|MED12_ENST00000374102.1_Missense_Mutation_p.D1121Y			Q93074	MED12_HUMAN	mediator complex subunit 12	1121					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)					CCAGGTCAGTGACCTATCTTT	0.532			"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.(3361-3363)Gac>Tac		mediator complex subunit 12							132	105	114					X																	70348454		2038	4182	6220	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:70348454G>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.3361G>T	X.37:g.70348454G>T	ENSP00000363193:p.Asp1121Tyr		Somatic	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.D1121Y|MED12_ENST00000374102.1_Missense_Mutation_p.D1121Y	p.D1121Y	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			24	3560	+	Renal(35;0.156)		1121					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3361G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.175798	0.78564	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	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;0.996;0.999;0.999	T	0.75569	-0.3272	10	0.87932	D	0	-18.8406	16.5341	0.84368	0.0:0.0:1.0:0.0	.	1121;968;1121;1121	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	1121;1121;1121;1121;1089	ENSP00000333125:D1121Y;ENSP00000363215:D1121Y;ENSP00000363193:D1121Y;ENSP00000414203:D1089Y	ENSP00000333125:D1121Y	D	+	1	0	MED12	70265179	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.986000	0.93492	2.161000	0.67846	0.600000	0.82982	GAC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	24	3	24	---	---	---	---	T	70348454	G	T	70348454	3	4	93	1	0	0	0	0	1	0	0	0	9428	1290	45	3	3455	3	MED12	23	70348454	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08	60172252	70348454	84922106	15	4813										
OR2M3	127062	broad.mit.edu	37	chr1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatagtaatgattgttttccCtgttgcaatcatcattgctt	6	7	2	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.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		Somatic					p.P210L	NM_001004689.1	NP_001004689.1	WXS	Illumina GAIIx	Phase_I	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	49	351	---	---	---	---	T	248366998	C	T	248366998	3	4	94	1	0	0	0	0	1	0	0	0	11011	681	24	2	631	2	OR2M3	1	248366998	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		248366998	883623	1	4814										
MORC1	27136	broad.mit.edu	37	chr3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaacttcaaggttgacagcCgttttttggatcgtccaaag	10	8	1	2	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		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	p.R89Q	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	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	3	147	---	---	---	---	T	108819312	C	T	108819312	3	4	94	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	2	4815										
RNF8	9025	broad.mit.edu	37	chr6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtttggctgaacagagcgCgtctggaacctttaagggtc	14	8	1	2	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_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	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		Somatic				RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	WXS	Illumina GAIIx	Phase_I	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	3	139	---	---	---	---	T	37336290	C	T	37336290	3	4	94	1	0	0	0	0	1	0	0	0	13500	768	27	2	281	2	RNF8	6	37336290	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		37336290	133778777	3	4816										
COL12A1	1303	broad.mit.edu	37	chr6	75855959	75855959	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctgactacaggcactggCacttccaaaacagaaaagca	9	11	0	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.(4417-4419)ttG>ttT		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			Somatic				COL12A1_ENST00000416123.2_Splice_Site_p.L1473F|COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F	p.L1473F	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			24	4728	-			1473					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.4419G>T	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	4	26	---	---	---	---	A	75855959	C	A	75855959	5	1	94	1	0	0	0	0	0	0	1	0	3669	724	25	3	4944	3	COL12A1	6	75855959	Splice_Site	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	38519669	75855959	95259108	4	4817										
CACNA2D1	781	broad.mit.edu	37	chr7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggtttgttcagtaatgcAgctctgcttggacagggagg	15	7	2	0			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_ENST00000535308.1_Missense_Mutation_p.C174G|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.C962G			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		Somatic				CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G	p.C962G	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	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	10	57	---	---	---	---	C	81591292	A	C	81591292	3	2	94	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	5	4818										
MMP16	4325	broad.mit.edu	37	chr8	89128877	89128877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatttttccttgggtcagcCggaggaatagagcggtgtgg	15	7	2	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.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			Somatic				MMP16_ENST00000544227.1_5'UTR	p.P314P	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	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	22	179	---	---	---	---	T	89128877	C	T	89128877	2	4	94	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		89128877	57235145	6	4819										
KIF11	3832	broad.mit.edu	37	chr10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttgaagaatctgtgaaaCactctgataaactcaatggc	9	7	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.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		Somatic					p.H800Y	NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	T	94405250	C	T	94405250	3	4	94	1	0	0	0	0	1	0	0	0	8272	478	17	2	2468	2	KIF11	10	94405250	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		94405250	41129497	7	4820										
OR4K14	122740	broad.mit.edu	37	chr14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattgaaaagtcacccgtcgGttttgcagtttcttcatagc	8	10	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.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		Somatic					p.N304K	NM_001004712.1	NP_001004712.1	WXS	Illumina GAIIx	Phase_I	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	5	142	---	---	---	---	C	20482441	G	C	20482441	3	2	94	1	0	0	0	0	1	0	0	0	11069	1252	44	4	23	4	OR4K14	14	20482441	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		20482441	86867099	8	4821										
USP50	373509	broad.mit.edu	37	chr15	50833426	50833426	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcagcatctctgagtagaTcctttctcatatgatcttct	6	11	4	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.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			Somatic				USP50_ENST00000530218.1_Intron	p.G160G	NM_203494.4	NP_987090.2	WXS	Illumina GAIIx	Phase_I	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	3	75	---	---	---	---	C	50833426	T	C	50833426	2	2	94	1	0	0	0	0	0	0	0	1	17079	1422	50	2		2	USP50	15	50833426	Silent	SNP	T	TCGA-EJ-7793-01A-31D-2260-08		50833426	51697966	9	4822										
WDR83	84292	broad.mit.edu	37	chr19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggactgcgggcagggggcaGtgcgagccgtacgatttaat	17	8	0	0			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_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.V28M	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		Somatic				WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR	p.V28M	NM_001099737.2	NP_001093207.1	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	A	12780686	G	A	12780686	3	1	94	1	0	0	0	0	1	0	0	0	17329	1029	36	2	84	2	WDR83	19	12780686	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		12780686	46348297	10	4823										
TRPM4	54795	broad.mit.edu	37	chr19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctagggctcgttccctgcgaGgtaccggtggcgcggtgacc	16	13	0	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.chr19:49671826G>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		Somatic				TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K	p.R210K	NM_017636.3	NP_060106.2	WXS	Illumina GAIIx	Phase_I	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	3	94	---	---	---	---	A	49671826	G	A	49671826	3	1	94	1	0	0	0	0	1	0	0	0	16585	1000	35	2	651	2	TRPM4	19	49671826	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	36891140	49671826	9457157	11	4824										
SON	6651	broad.mit.edu	37	chr21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctttaaactcagtgaacccAaacctatttttttcaatctg	3	11	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.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		Somatic				SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q	p.K2149Q	NM_138927.1	NP_620305	WXS	Illumina GAIIx	Phase_I	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	12	95	---	---	---	---	C	34931659	A	C	34931659	3	2	94	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	12	4825										
TMPRSS2	7113	broad.mit.edu	37	chr21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcataatttggatgagaaAtcactttttctacttggtat	7	5	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.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	7113				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		Somatic				TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	p.I369N	NM_001135099.1	NP_001128571.1	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	T	42843813	A	T	42843813	3	4	94	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	13	4826										
DPYD	1806	broad.mit.edu	37	chr1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	taatttttaccttgatggtaGgaataggccttttggggata	11	4	0	1			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		Somatic				DPYD-AS1_ENST00000422980.1_RNA	p.P919L	NM_000110.3	NP_000101	WXS	Illumina GAIIx	Phase_I	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	3	121	---	---	---	---	A	97564055	G	A	97564055	3	1	95	1	0	0	0	0	1	0	0	0	4745	1000	35	2	333	2	DPYD	1	97564055	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		97564055	151686566	1	4827										
TTN	7273	broad.mit.edu	37	chr2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	ttccttcatcatctttcatcAtatttagaactgtcaattta	2	9	6	1			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_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M2594T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T			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		Somatic				TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T	p.M2594T	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	5	54	---	---	---	---	G	179637910	A	G	179637910	3	3	95	1	0	0	0	0	1	0	0	0	16732	217	8	2	103527	2	TTN	2	179637910	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08		179637910	63561463	2	4828										
MAN2A1	4124	broad.mit.edu	37	chr5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-													0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	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)tttfs		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		Somatic					p.F604fs	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	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	95	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	3	4829										
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-													0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	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)ctgaag>ctg		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		Somatic					p.K2067del	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2067			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	95	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		129762070	41352997	4	4830										
TNFRSF10B	8795	broad.mit.edu	37	chr8	22880193	22880193	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	gagaatcacacttaggacatGgcagagtctgcattaccttc	9	10	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	T	22880193	G	T	22880193	2	4	95	1	0	0	0	0	0	0	0	1	16278	1335	47	1		1	TNFRSF10B	8	22880193	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		22880193	123483829	5	4831										
FIBCD1	84929	broad.mit.edu	37	chr9	133779562	133779562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	gcataggaggcgtgcgcaccGcgcaggtactgcccattgag	15	12	0	1			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_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000253018.4_Intron	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			Somatic				FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R	p.R425R	NM_032843.4	NP_116232.3	WXS	Illumina GAIIx	Phase_I	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	21	88	---	---	---	---	A	133779562	G	A	133779562	2	1	95	1	0	0	0	0	0	0	0	1	5884	1074	38	2		2	FIBCD1	9	133779562	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		133779562	7433869	6	4832										
STK32C	282974	broad.mit.edu	37	chr10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	gtcctcggagaactgcacgtTctgctgcaggtggtagcgca	14	11	1	1			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		Somatic				STK32C_ENST00000368625.4_Missense_Mutation_p.N198D	p.N68D			WXS	Illumina GAIIx	Phase_I	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	7	65	---	---	---	---	C	134040390	T	C	134040390	3	2	95	1	0	0	0	0	1	0	0	0	15298	1783	62	2	943	2	STK32C	10	134040390	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08		134040390	1494357	7	4833										
PTPRO	5800	broad.mit.edu	37	chr12	15742395	15742395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	acattcttttgcagtgctggCgtgggacggacaggaacatt	13	8	1	0	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_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000348962.2_Silent_p.G1111G	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			Somatic				PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G	p.G1139G	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	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	7	160	---	---	---	---	T	15742395	C	T	15742395	2	4	95	1	0	0	0	0	0	0	0	1	12809	755	27	2		2	PTPRO	12	15742395	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		15742395	118109500	8	4834										
ANO4	121601	broad.mit.edu	37	chr12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	tggacaaggagacactgccaGacctggaggagaatgactgc	14	9	0	4			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_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.D192Y			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)	Somatic	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1358	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y	p.D192Y	NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	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	24	151	---	---	---	---	T	101381393	G	T	101381393	3	4	95	1	0	0	0	0	1	0	0	0	699	942	33	3	596	3	ANO4	12	101381393	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	85638998	101381393	32470502	9	4835										
TBC1D2B	23102	broad.mit.edu	37	chr15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	caggtctttctttaactgttCcagctcttcctgctggctct	7	13	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.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		Somatic				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K	p.E352K			WXS	Illumina GAIIx	Phase_I	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	9	76	---	---	---	---	T	78317633	C	T	78317633	3	4	95	1	0	0	0	0	1	0	0	0	15616	864	30	2	1873	2	TBC1D2B	15	78317633	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		78317633	24213759	10	4836										
SUPT6H	6830	broad.mit.edu	37	chr17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	ttctgtggatctaggtgggaAtgactgttcactgccgcatc	12	9	3	1			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		Somatic				SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	p.M1261V	NM_003170.3	NP_003161.2	WXS	Illumina GAIIx	Phase_I	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	10	29	---	---	---	---	G	27022376	A	G	27022376	3	3	95	1	0	0	0	0	1	0	0	0	15397	101	4	2	3891	2	SUPT6H	17	27022376	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08		27022376	54172834	11	4837										
SYMPK	8189	broad.mit.edu	37	chr19	46334800	46334800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	acgctctctgtcttcaccacCttctcctccttgggctcctc	5	19	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.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			Somatic					p.K480K	NM_004819.2	NP_004810.2	WXS	Illumina GAIIx	Phase_I	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	3	17	---	---	---	---	T	46334800	C	T	46334800	2	4	95	1	0	0	0	0	0	0	0	1	15436	680	24	2		2	SYMPK	19	46334800	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		46334800	12794183	12	4838										
ZNF616	90317	broad.mit.edu	37	chr19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	attcattgcatttgtaaggtTtctctccagtatgaattctc	6	8	3	1			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		Somatic				ZNF616_ENST00000330123.5_3'UTR	p.K491R	NM_178523.3	NP_848618.2	WXS	Illumina GAIIx	Phase_I	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	3	105	---	---	---	---	C	52618945	T	C	52618945	3	2	95	1	0	0	0	0	1	0	0	0	18038	1841	64	2	877	2	ZNF616	19	52618945	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08	6284145	52618945	6510038	13	4839										
PTPRA	5786	broad.mit.edu	37	chr20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	aactggaagtgacctctctaGaaacccacctgcagaaaatt	7	11	1	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.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	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|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K	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	5786				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		Somatic				PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	p.E506K	NM_080840.2	NP_543030.1	WXS	Illumina GAIIx	Phase_I	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	15	116	---	---	---	---	A	3005196	G	A	3005196	3	1	95	1	0	0	0	0	1	0	0	0	12795	943	33	2	1597	2	PTPRA	20	3005196	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		3005196	60020324	14	4840										
ATP9A	10079	broad.mit.edu	37	chr20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.827922077922078	NA	0.827922077922078	1	1	0	gttgtgaatgtcaatatttgGctcttctgcgtacacatacg	9	8	3	1			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_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_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		Somatic				ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	p.P228S	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	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	6	155	---	---	---	---	A	50307319	G	A	50307319	3	1	95	1	0	0	0	0	1	0	0	0	1198	1203	42	2	2545	2	ATP9A	20	50307319	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	47302123	50307319	12718201	15	4841										
SERBP1	26135	broad.mit.edu	37	chr1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ggttcttgcggtctttctggGactccttgcgcagctgtttg	13	10	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.chr1:67895763G>A	ENST00000370995.2	-	1	306	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000370994.4_Missense_Mutation_p.S74F|SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_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		Somatic				SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_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	WXS	Illumina GAIIx	Phase_I	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	14	86	---	---	---	---	A	67895763	G	A	67895763	3	1	96	1	0	0	0	0	1	0	0	0	14075	1174	41	2	1037	2	SERBP1	1	67895763	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		67895763	181354858	1	4842										
ABCA4	24	broad.mit.edu	37	chr1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	catttggcttaccatgatgaAtatcgtcaggaggaagatgc	11	7	1	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		Somatic				ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	p.F718L	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	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	9	54	---	---	---	---	G	94526101	A	G	94526101	3	3	96	1	0	0	0	0	1	0	0	0	34	101	4	2	4817	2	ABCA4	1	94526101	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	26630338	94526101	154724520	2	4843										
PRKD3	23683	broad.mit.edu	37	chr2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	tacctcttcactgggaagggCtacatattcaggctgtaggg	12	9	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.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		Somatic				PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S	p.A234S			WXS	Illumina GAIIx	Phase_I	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	3	68	---	---	---	---	A	37516516	C	A	37516516	3	1	96	1	0	0	0	0	1	0	0	0	12520	797	28	3	2032	3	PRKD3	2	37516516	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		37516516	205682857	3	4844										
DHX57	90957	broad.mit.edu	37	chr2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	cttagttactcctgcaggagGttttacaaacacagcctgct	8	11	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.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		Somatic					p.P902A	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	C	39053767	G	C	39053767	3	2	96	1	0	0	0	0	1	0	0	0	4513	1261	44	4	1496	4	DHX57	2	39053767	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1537251	39053767	204145606	4	4845										
TTN	7273	broad.mit.edu	37	chr2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	agtcttagaagcatccactgAgtagagatttaagaagctag	10	6	1	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.chr2:179592402A>C	ENST00000591111.1	-	66	19176	c.18952T>G	c.(18952-18954)Tca>Gca	p.S6318A	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6635A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			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		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.S6635A	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	13	220	---	---	---	---	C	179592402	A	C	179592402	3	2	96	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	140538635	179592402	63606971	5	4846										
WNT6	7475	broad.mit.edu	37	chr2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	aggcacggcggctggccgggCggcaggccgagttgtgccag	20	12	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.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		Somatic				WNT6_ENST00000486233.1_Intron	p.R50W	NM_006522.3	NP_006513.1	WXS	Illumina GAIIx	Phase_I	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	6	123	---	---	---	---	T	219735816	C	T	219735816	3	4	96	1	0	0	0	0	1	0	0	0	17390	759	27	2	154	2	WNT6	2	219735816	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	40143414	219735816	23463557	6	4847										
CNOT10	25904	broad.mit.edu	37	chr3	32800949	32800949	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	cccttcccttttgtgttataGgtgctccatacttgcttgca	7	12	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.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site|CNOT10_ENST00000454516.2_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			Somatic				CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site		NM_015442.2	NP_056257.1	WXS	Illumina GAIIx	Phase_I	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	18	491	---	---	---	---	C	32800949	G	C	32800949	5	2	96	1	0	0	0	0	0	0	1	0	3618	1014	35	4	1649	4	CNOT10	3	32800949	Splice_Site	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		32800949	165221481	7	4848										
FOXP1	27086	broad.mit.edu	37	chr3	71096126	71096127	+	Nonsense_Mutation	DNP	GC	GC	AA													0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	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.chr3:71096126_71096127GC>AA	ENST00000318789.4	-	10	1155_1156	c.630_631GC>TT	c.(628-633)ggGCag>ggTTag	p.Q211*	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*	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)		AGGGCAGGCTGCCCGGGCTGAA	0.53			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|c.(628-630)ggG>ggT		forkhead box P1																																				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|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.630_631delinsAA	3.37:g.71096126_71096127delinsAA	ENSP00000318902:p.Gln211*		Somatic				FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000468577.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G	p.Q211*|p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	WXS	Illumina GAIIx	Phase_I	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|1155	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	211|210	GQP -> ARA (in Ref. 1; AAK69408).		Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation|Silent	SNP	ENST00000318789.4	37	c.631C>T|c.630G>T	CCDS2914.1																																																																																				0.53	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		24|25	262|258	24	258	---	---	---	---	AA	71096127	GC	AA	71096126	4	1	96	1	0	0	0	0	0	1	0	0	6026	1328	46	2	1450	2	FOXP1	3	71096126	Nonsense_Mutation	DNP	GC	TCGA-EJ-7797-01A-11D-2260-08	38295177	71096126	126926304	8	4849										
EVC	2121	broad.mit.edu	37	chr4	5735120	5735120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	tacagccttcacttaaaagaCctgctgcatttggacacggc	8	12	1	1	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			Somatic				EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D	p.D220D			WXS	Illumina GAIIx	Phase_I	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	63	281	---	---	---	---	T	5735120	C	T	5735120	2	4	96	1	0	0	0	0	0	0	0	1	5285	506	18	2		2	EVC	4	5735120	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		5735120	185419156	9	4850										
PPM1K	152926	broad.mit.edu	37	chr4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ctgcagtactgttatcctcaGtaccgtactgtattgcctgc	8	12	1	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.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																																						ENST00000608933.1																			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		Somatic				PPM1K_ENST00000508256.1_Missense_Mutation_p.T116I|PPM1K_ENST00000295908.7_Missense_Mutation_p.T290I	p.T335I	NM_152542.4	NP_689755.3	WXS	Illumina GAIIx	Phase_I	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	7	1393	-		Hepatocellular(203;0.114)				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	10	39	---	---	---	---	A	89183862	G	A	89183862	3	1	96	1	0	0	0	0	1	0	0	0	12343	1029	36	2	118	2	PPM1K	4	89183862	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	83448742	89183862	101970414	10	4851										
ATOH1	474	broad.mit.edu	37	chr4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ttctgcgggagggtactcggTgcagctggacgctctgcact	15	11	2	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.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		Somatic					p.V287E	NM_005172.1	NP_005163.1	WXS	Illumina GAIIx	Phase_I	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	7	89	---	---	---	---	A	94750937	T	A	94750937	3	1	96	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	11	4852										
FAT4	79633	broad.mit.edu	37	chr4	126242060	126242060	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	tttgagttgactgtaaaagcCaatgatcaagctgtgccaat	9	7	1	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			Somatic					p.A1498A	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	22	99	---	---	---	---	G	126242060	C	G	126242060	2	3	96	1	0	0	0	0	0	0	0	1	5692	581	21	4		4	FAT4	4	126242060	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	31491123	126242060	64912216	12	4853										
TNXB	7148	broad.mit.edu	37	chr6	32010244	32010244	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ccacccaccagccagccgccCccatcagtctccatgtcgca	6	22	2	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			Somatic				TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G	p.G4066G			WXS	Illumina GAIIx	Phase_I	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	5	71	---	---	---	---	G	32010244	C	G	32010244	2	3	96	1	0	0	0	0	0	0	0	1	16343	610	22	4		4	TNXB	6	32010244	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		32010244	139104823	13	4854										
POM121	9883	broad.mit.edu	37	chr7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ggagaggccagcaaagaaaaTaaggtacttggcattctcct	11	8	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.chr7:72409217T>G	ENST00000434423.2	+	6	1364	c.1364T>G	c.(1363-1365)aTa>aGa	p.I455R	POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000395270.1_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		Somatic				POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	p.I190R	NM_001257190.1	NP_001244119.1	WXS	Illumina GAIIx	Phase_I	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	14	111	---	---	---	---	G	72409217	T	G	72409217	3	3	96	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	14	4855										
FLJ46321	389763	broad.mit.edu	37	chr9	84607230	84607230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ccccagaacgaggcacggtcTcttttgccatctgaaattaa	8	12	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.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			Somatic					p.S615S	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					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	4	81	---	---	---	---	C	84607230	T	C	84607230	2	2	96	1	0	0	0	0	0	0	0	1	5932	1538	54	2		2	FLJ46321	9	84607230	Silent	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		84607230	56606201	15	4856										
DPP7	29952	broad.mit.edu	37	chr9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	cagcgcccccgccaccaggtGgggatacttcatcctcaggt	11	16	2	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.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		Somatic					p.H177Y	NM_013379.2	NP_037511.2	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	A	140007905	G	A	140007905	3	1	96	1	0	0	0	0	1	0	0	0	4731	1348	47	2	985	2	DPP7	9	140007905	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	55400675	140007905	1205526	16	4857										
TMX2	51075	broad.mit.edu	37	chr11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	actgccaatcatttgcccctAtctatgctgacctctccctt	4	16	3	1	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	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|C11orf31_ENST00000388857.4_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		Somatic				TMX2_ENST00000378312.4_Missense_Mutation_p.I138V|TMX2-CTNND1_ENST00000528395.1_Intron	p.I176V	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	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	32	155	---	---	---	---	G	57506220	A	G	57506220	3	3	96	1	0	0	0	0	1	0	0	0	16264	449	16	2	544	2	TMX2	11	57506220	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08		57506220	77500296	17	4858										
FAT3	120114	broad.mit.edu	37	chr11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	tccacactccctatttcccaGactttgctgttgttggatct	6	13	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.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000525166.1_Missense_Mutation_p.D895N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N			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)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.D895N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N	p.D1045N			WXS	Illumina GAIIx	Phase_I	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	4	53	---	---	---	---	A	92088411	G	A	92088411	3	1	96	1	0	0	0	0	1	0	0	0	5691	942	33	2	3135	2	FAT3	11	92088411	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	34582191	92088411	42918105	18	4859										
JAG2	3714	broad.mit.edu	37	chr14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	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	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	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)tgcfs		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		Somatic				JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	p.C560fs	NM_002226.4	NP_002217.3	WXS	Illumina GAIIx	Phase_I	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	96	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	19	4860										
SLC12A4	6560	broad.mit.edu	37	chr16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	cccccaggatgtacatggctGctgcgaatgttgttcccagg	12	12	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.chr16:67988583G>C	ENST00000316341.3	-	6	778	c.638C>G	c.(637-639)gCa>gGa	p.A213G	SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000422611.2_Missense_Mutation_p.A215G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G	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		Somatic				SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G	p.A215G	NM_001145962.1	NP_001139434.1	WXS	Illumina GAIIx	Phase_I	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	5	86	---	---	---	---	C	67988583	G	C	67988583	3	2	96	1	0	0	0	0	1	0	0	0	14385	1319	46	4	2695	4	SLC12A4	16	67988583	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		67988583	22366170	20	4861										
HPN	3249	broad.mit.edu	37	chr19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	ccctggcccagaagccaggcGtctacaccaaagtcagtgac	10	15	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.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	169	---	---	---	---	A	35556886	G	A	35556886	3	1	96	1	0	0	0	0	1	0	0	0	7336	1145	40	2	1207	2	HPN	19	35556886	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		35556886	23572097	21	4862										
ZNF610	162963	broad.mit.edu	37	chr19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	gaagcaatgcagaaaacaagCctattaaaaatcaacttgga	7	7	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.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_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000601151.1_Missense_Mutation_p.P77T	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		Somatic				ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T	p.P77T	NM_001161427.1	NP_001154899.1	WXS	Illumina GAIIx	Phase_I	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	5	148	---	---	---	---	A	52868989	C	A	52868989	3	1	96	1	0	0	0	0	1	0	0	0	18033	739	26	3	372	3	ZNF610	19	52868989	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	17312103	52868989	6259994	22	4863										
C22orf36	2678	broad.mit.edu	37	chr22	24982300	24982300	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.78125	0	1.33928571428571	1	1	0	gtagcgtgtgatgtgttgcaCgtcctgtgtcgacagcggga	16	8	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.chr22:24982300C>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.V168L|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)	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			Somatic				GGT1_ENST00000248923.4_Intron	p.V168L	NM_207644.2	NP_997527.2	WXS	Illumina GAIIx	Phase_I	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	7	355	---	---	---	---	A	24982300	C	A	24982300	1	1	96	0	1	0	0	0	0	0	0	0	2146	536	19	3		3	C22orf36	22	24982300	Intron	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		24982300	26322266	23	4864										
PRAMEF11	440560	broad.mit.edu	37	chr1	12887550	12887550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	cacagtcaagggctgccgttCtctcatccttggacagtcct	9	14	3	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.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		Somatic					p.E103K	NM_001146344.1	NP_001139816.1	WXS	Illumina GAIIx	Phase_I	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	66	244	---	---	---	---	T	12887550	C	T	12887550	3	4	97	1	0	0	0	0	1	0	0	0	12427	922	32	2	1011	2	PRAMEF11	1	12887550	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		12887550	236363071	1	4865										
MACF1	23499	broad.mit.edu	37	chr1	39907713	39907717	+	Frame_Shift_Del	DEL	AAATG	AAATG	-													0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	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_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.NE6255fs			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)ttaaatgaafs		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		Somatic				MACF1_ENST00000372915.3_Frame_Shift_Del_p.NE6154fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs	p.NE6255fs			WXS	Illumina GAIIx	Phase_I	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)	6264					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	97	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	4866										
GBP4	115361	broad.mit.edu	37	chr1	89652043	89652043	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ttgtgttttagcagcctttcAtgctctctgagaaggttttc	9	8	2	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.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		Somatic					p.H560Q	NM_052941.4	NP_443173.2	WXS	Illumina GAIIx	Phase_I	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	19	78	---	---	---	---	T	89652043	A	T	89652043	3	4	97	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	4867										
HMCN1	83872	broad.mit.edu	37	chr1	186136032	186136032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	atcgctgtgtggtccgttgtGgaagtggctttcgaagaacc	14	8	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.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		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	p.G5178R	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	17	57	---	---	---	---	A	186136032	G	A	186136032	3	1	97	1	0	0	0	0	1	0	0	0	7220	1349	47	2	15930	2	HMCN1	1	186136032	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	96483989	186136032	63114589	4	4868										
ALPI	248	broad.mit.edu	37	chr2	233323610	233323610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	caggcggcggtgcccctgtcGtccgagacccacggaggcga	16	15	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.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			Somatic					p.S447S	NM_001631.3	NP_001622.2	WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	A	233323610	G	A	233323610	2	1	97	1	0	0	0	0	0	0	0	1	543	1132	40	2		2	ALPI	2	233323610	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		233323610	9875763	5	4869										
UGT2B28	54490	broad.mit.edu	37	chr4	70146412	70146412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ttcagcttccattctttttgAtcccaatgacgcattcactc	4	13	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.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		Somatic				UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	p.D65G	NM_053039.1	NP_444267.1	WXS	Illumina GAIIx	Phase_I	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	2	4	---	---	---	---	G	70146412	A	G	70146412	3	3	97	1	0	0	0	0	1	0	0	0	16957	333	12	2	196	2	UGT2B28	4	70146412	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		70146412	121007864	6	4870										
TRPC3	7222	broad.mit.edu	37	chr4	122824123	122824123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	aaatgattttggactaggaaCtagactgaaaggtggaggta	13	3	0	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.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		Somatic				TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F	p.V710F	NM_003305.2	NP_003296.1	WXS	Illumina GAIIx	Phase_I	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	13	56	---	---	---	---	A	122824123	C	A	122824123	3	1	97	1	0	0	0	0	1	0	0	0	16576	565	20	3	434	3	TRPC3	4	122824123	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	52677711	122824123	68330153	7	4871										
CHD1	1105	broad.mit.edu	37	chr5	98205472	98205473	+	Frame_Shift_Ins	INS	-	-	AT													0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	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)gatgaafs		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		Somatic				CHD1_ENST00000511067.1_5'UTR	p.E1365fs	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	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	97	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	8	4872										
VARS2	57176	broad.mit.edu	37	chr6	30884980	30884980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	aactggtcatgtgctttaagAtcagccatctcggacattga	9	9	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.chr6:30884980A>T	ENST00000321897.5	+	8	1484	c.852A>T	c.(850-852)agA>agT	p.R284S	VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|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		Somatic				VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S	p.R284S			WXS	Illumina GAIIx	Phase_I	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	46	96	---	---	---	---	T	30884980	A	T	30884980	3	4	97	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	9	4873										
CSMD3	114788	broad.mit.edu	37	chr8	113308118	113308118	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	cctgttgacatatcctcactGaagaaccaatcaatcgaaaa	5	11	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.chr8:113308118G>A	ENST00000297405.5	-	54	8802	c.8558C>T	c.(8557-8559)tCa>tTa	p.S2853L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L	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)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L	p.S2853L	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	8	21	---	---	---	---	A	113308118	G	A	113308118	3	1	97	1	0	0	0	0	1	0	0	0	3946	1294	45	2	2637	2	CSMD3	8	113308118	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		113308118	33055904	10	4874										
MLL2	8085	broad.mit.edu	37	chr12	49432198	49432198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	gggcaacttcccagcttccaGggccagaggattggggcggc	16	12	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.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		Somatic					p.L2981V	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	4	61	---	---	---	---	C	49432198	G	C	49432198	3	2	97	1	0	0	0	0	1	0	0	0	9621	991	35	4	7756	4	MLL2	12	49432198	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		49432198	84419697	11	4875										
HOXC4	3221	broad.mit.edu	37	chr12	54448666	54448666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ataacggaggggaacccaagCgctcgaggacagcctatacc	12	12	0	0	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		Somatic				HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	p.R158C	NM_153633.2	NP_705897.1	WXS	Illumina GAIIx	Phase_I	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	5	32	---	---	---	---	T	54448666	C	T	54448666	3	4	97	1	0	0	0	0	1	0	0	0	7313	768	27	2	478	2	HOXC4	12	54448666	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	5016468	54448666	79403229	12	4876										
THSD4	79875	broad.mit.edu	37	chr15	71535425	71535425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ctatcggcagtacaagctgtGcaacaccaacgtgagtacac	9	12	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.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		Somatic				THSD4_ENST00000261862.6_Missense_Mutation_p.C301F	p.C301F			WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	T	71535425	G	T	71535425	3	4	97	1	0	0	0	0	1	0	0	0	15875	1319	46	3	916	3	THSD4	15	71535425	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		71535425	30995967	13	4877										
ZFPM1	161882	broad.mit.edu	37	chr16	88598619	88598619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	gccccagcgccagctccctgGagatccacatgcgcagccac	10	19	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.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		Somatic					p.E308K	NM_153813.2	NP_722520.2	WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	A	88598619	G	A	88598619	3	1	97	1	0	0	0	0	1	0	0	0	17654	1175	41	2	948	2	ZFPM1	16	88598619	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		88598619	1756134	14	4878										
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	12	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.chr17:47696425A>G	ENST00000393328.2	-	6	763	c.398T>C	c.(397-399)tTc>tCc	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|SPOP_ENST00000393331.3_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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_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	WXS	Illumina GAIIx	Phase_I	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	43	95	---	---	---	---	G	47696425	A	G	47696425	3	3	97	1	0	0	0	0	1	0	0	0	15083	246	9	2	750	2	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		47696425	33498785	15	4879										
APPBP2	10513	broad.mit.edu	37	chr17	58529353	58529353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	gctacttcataatcttcttgAccaagaagttgttctttaat	5	8	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.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			Somatic					p.G464G	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	WXS	Illumina GAIIx	Phase_I	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	4	61	---	---	---	---	G	58529353	A	G	58529353	2	3	97	1	0	0	0	0	0	0	0	1	816	262	10	2		2	APPBP2	17	58529353	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	10832928	58529353	22665857	16	4880										
TANC2	26115	broad.mit.edu	37	chr17	61432335	61432335	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ctcagttctcatctcaagacCctcagtcaagggtcctatct	6	14	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.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			Somatic				TANC2_ENST00000389520.4_Silent_p.T648T	p.T648T	NM_025185.3	NP_079461.2	WXS	Illumina GAIIx	Phase_I	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	33	110	---	---	---	---	A	61432335	C	A	61432335	2	1	97	1	0	0	0	0	0	0	0	1	15542	610	22	1		1	TANC2	17	61432335	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2902982	61432335	19762875	17	4881										
ZNF559	84527	broad.mit.edu	37	chr19	9453237	9453237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	aactcttcacatcttactgtAcatatgagaactcacactgg	5	11	4	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.chr19:9453237A>G	ENST00000393883.2	+	6	1758	c.1110A>G	c.(1108-1110)gtA>gtG	p.V370V	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_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			Somatic				ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron	p.V370V	NM_001202412.1	NP_001189341.1	WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	G	9453237	A	G	9453237	2	3	97	1	0	0	0	0	0	0	0	1	17987	378	14	2		2	ZNF559	19	9453237	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		9453237	49675746	18	4882										
ZNF799	90576	broad.mit.edu	37	chr19	12501393	12501393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ttttttccagtgagtcttttTatgtctatgcaaggaactga	8	6	2	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.chr19:12501393T>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		Somatic				ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron	p.K575E			WXS	Illumina GAIIx	Phase_I	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	31	91	---	---	---	---	C	12501393	T	C	12501393	3	2	97	1	0	0	0	0	1	0	0	0	18163	1763	61	2	116	2	ZNF799	19	12501393	Missense_Mutation	SNP	T	TCGA-EJ-8468-01A-21D-2395-08	3048156	12501393	46627590	19	4883										
MYO9B	4650	broad.mit.edu	37	chr19	17311626	17311626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	ctcaagtacctggacgagttCctgctcaacaaggtgggatc	11	11	2	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	20	53	---	---	---	---	A	17311626	C	A	17311626	3	1	97	1	0	0	0	0	1	0	0	0	10085	854	30	3	4649	3	MYO9B	19	17311626	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	4810233	17311626	41817357	20	4884										
ZC3H4	23211	broad.mit.edu	37	chr19	47570989	47570989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	tcccttctggaggcgggggtCccccagcccactgctgctca	12	17	2	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.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		Somatic				ZC3H4_ENST00000594019.1_Intron	p.D846Y	NM_015168.1	NP_055983.1	WXS	Illumina GAIIx	Phase_I	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	6	13	---	---	---	---	A	47570989	C	A	47570989	3	1	97	1	0	0	0	0	1	0	0	0	17567	855	30	3	1379	3	ZC3H4	19	47570989	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	30259363	47570989	11557994	21	4885										
MTMR3	8897	broad.mit.edu	37	chr22	30416351	30416351	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	2	1	1.68951612903226	0	1.93087557603687	0.333333333333333	1	0	gtggggtctgtggtgcatagGacttcccttggcagcactct	14	10	2	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.chr22:30416351G>A	ENST00000401950.2	+	17	3045	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	MTMR3_ENST00000323630.5_Silent_p.R765R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.R901R|MTMR3_ENST00000406629.1_Silent_p.R901R	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			Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.R901R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R	p.R901R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	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	17	51	---	---	---	---	A	30416351	G	A	30416351	2	1	97	1	0	0	0	0	0	0	0	1	9945	1165	41	2		2	MTMR3	22	30416351	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		30416351	20888215	22	4886										
PI4KB	5298	broad.mit.edu	37	chr1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	tggtggtgtcaaagttttcaCattcaaggacttccacataa	8	8	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.chr1:151278805C>A	ENST00000368873.1	-	5	1385	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368875.2_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F			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		Somatic				PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F	p.C418F	NM_002651.2	NP_002642.1	WXS	Illumina GAIIx	Phase_I	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	4	93	---	---	---	---	A	151278805	C	A	151278805	3	1	98	1	0	0	0	0	1	0	0	0	11874	478	17	3	1265	3	PI4KB	1	151278805	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		151278805	97971816	1	4887										
SOX13	9580	broad.mit.edu	37	chr1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	gctggccctggatggcgttgGcaccatggtgaactgcacca	14	12	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.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		Somatic				SOX13_ENST00000367203.4_3'UTR	p.G17D	NM_005686.2	NP_005677.2	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	A	204082093	G	A	204082093	3	1	98	1	0	0	0	0	1	0	0	0	14944	1203	42	2	52	2	SOX13	1	204082093	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	52803288	204082093	45168528	2	4888										
ADCY3	109	broad.mit.edu	37	chr2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	gctctcctctgtgtagaagtCagcaaagttgggcagggagg	15	8	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.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N|RP11-443B20.1_ENST00000606114.1_RNA	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		Somatic				ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	p.D934N	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	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	4	103	---	---	---	---	T	25046161	C	T	25046161	3	4	98	1	0	0	0	0	1	0	0	0	295	826	29	2	654	2	ADCY3	2	25046161	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		25046161	218153212	3	4889										
EIF2AK3	9451	broad.mit.edu	37	chr2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	cccactgctttttaccatgaTtttcaggatccaaggcagca	7	12	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.chr2:88913315T>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		Somatic				EIF2AK3_ENST00000419748.1_5'UTR	p.N122S	NM_004836.5	NP_004827.4	WXS	Illumina GAIIx	Phase_I	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	94	128	---	---	---	---	C	88913315	T	C	88913315	3	2	98	1	0	0	0	0	1	0	0	0	4998	1493	52	2	3049	2	EIF2AK3	2	88913315	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	63867154	88913315	154286058	4	4890										
ZAP70	7535	broad.mit.edu	37	chr2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ggagatggctgggggcgggcCgctgcacaagttcctggtcg	19	10	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.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	206	---	---	---	---	T	98351892	C	T	98351892	3	4	98	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	5	4891										
TTN	7273	broad.mit.edu	37	chr2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	tagtacaagagtcgctaccaAcatcattggtaacatggcaa	8	9	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.chr2:179592350A>G	ENST00000591111.1	-	66	19228	c.19004T>C	c.(19003-19005)gTt>gCt	p.V6335A	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6652A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A			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		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A	p.V6652A	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	180	296	---	---	---	---	G	179592350	A	G	179592350	3	3	98	1	0	0	0	0	1	0	0	0	16732	43	2	2	84754	2	TTN	2	179592350	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	81240458	179592350	63607023	6	4892										
AGFG1	3267	broad.mit.edu	37	chr2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	caacactgcacttaaataagGgcacacctagtcaggtgagt	9	10	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.chr2:228388627G>A	ENST00000310078.8	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409979.2_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																																						ENST00000310078.8																			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		Somatic				AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR	p.G176S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	WXS	Illumina GAIIx	Phase_I	P52594	AGFG1_HUMAN			4	786	+								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	23	173	---	---	---	---	A	228388627	G	A	228388627	3	1	98	1	0	0	0	0	1	0	0	0	380	1232	43	2	540	2	AGFG1	2	228388627	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	48796277	228388627	14810746	7	4893										
PTPRG	5793	broad.mit.edu	37	chr3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	cctgggcagctattatcggtAcacaggttccttgaccacac	9	13	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.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		Somatic				PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	p.Y252C	NM_002841.3	NP_002832.3	WXS	Illumina GAIIx	Phase_I	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	7	162	---	---	---	---	G	62142813	A	G	62142813	3	3	98	1	0	0	0	0	1	0	0	0	12802	391	14	2	781	2	PTPRG	3	62142813	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		62142813	135879617	8	4894										
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	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)	Somatic					p.E545K	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	4	116	---	---	---	---	A	178936091	G	A	178936091	3	1	98	1	0	0	0	0	1	0	0	0	11913	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	116793278	178936091	19086339	9	4895										
ABCC5	10057	broad.mit.edu	37	chr3	183667864	183667864	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	cccacacagaagaacaccagGataacgttctggatgaacat	8	11	1	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.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			Somatic				ABCC5_ENST00000265586.6_Silent_p.I998I	p.I998I	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	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	22	51	---	---	---	---	A	183667864	G	A	183667864	2	1	98	1	0	0	0	0	0	0	0	1	56	1164	41	2		2	ABCC5	3	183667864	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	4731773	183667864	14354566	10	4896										
SV2C	22987	broad.mit.edu	37	chr5	75490817	75490817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	gcagacaaagtgggaaggaaAcagtctcttctgatttgcat	11	7	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.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			Somatic				SV2C_ENST00000322285.7_Silent_p.K218K	p.K218K	NM_014979.1	NP_055794.1	WXS	Illumina GAIIx	Phase_I	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	149	249	---	---	---	---	G	75490817	A	G	75490817	2	3	98	1	0	0	0	0	0	0	0	1	15416	40	2	2		2	SV2C	5	75490817	Silent	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		75490817	105424443	11	4897										
PCDHGC5	56097	broad.mit.edu	37	chr5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ccacccttatctctgtcatcGtgctggacatcaatgataat	6	12	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.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_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|PCDHGB3_ENST00000576222.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_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	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	56097				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		Somatic				PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.V232M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	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	102	154	---	---	---	---	A	140869501	G	A	140869501	3	1	98	1	0	0	0	0	1	0	0	0	11571	1145	40	2	696	2	PCDHGC5	5	140869501	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	65378684	140869501	40045759	12	4898										
MUC17	140453	broad.mit.edu	37	chr7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	agccagttcacctcctccaaCtgctgaagttaccagcatgc	7	15	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.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		Somatic					p.T1203I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	19	626	---	---	---	---	T	100678305	C	T	100678305	3	4	98	1	0	0	0	0	1	0	0	0	9974	565	20	2	3618	2	MUC17	7	100678305	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		100678305	58460358	13	4899										
ENPP2	5168	broad.mit.edu	37	chr8	120608106	120608106	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ctttgtcctgacgagtttccGcagcataatgatccatccta	7	12	0	2	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_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.A370V|ENPP2_ENST00000522167.1_5'Flank	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	5168				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			Somatic				ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	p.A370V	NM_006209.4	NP_006200.3	WXS	Illumina GAIIx	Phase_I	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	19	540	---	---	---	---	A	120608106	G	A	120608106	1	1	98	0	1	0	0	0	0	0	0	0	5130	1087	38	2		2	ENPP2	8	120608106	Intron	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		120608106	25755916	14	4900										
ZFAT	57623	broad.mit.edu	37	chr8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	caggaggcagaagctctggtTgatggaactggtgaagacca	15	7	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.chr8:135614479T>C	ENST00000377838.3	-	6	1657	c.1483A>G	c.(1483-1485)Aac>Gac	p.N495D	ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520727.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT-AS1_ENST00000505776.1_RNA|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		Somatic				ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	p.N483D	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	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	4	118	---	---	---	---	C	135614479	T	C	135614479	3	2	98	1	0	0	0	0	1	0	0	0	17629	1812	63	2	2292	2	ZFAT	8	135614479	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	15006373	135614479	10749543	15	4901										
RECQL4	9684	broad.mit.edu	37	chr8	145741718	145741718	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	agggctcctcgttccatctcCgcttctcgcctccactgctg	8	18	2	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.chr8:145741718C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.R262Q	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		Somatic				RECQL4_ENST00000532237.1_5'UTR	p.R262Q	NM_004260.3	NP_004251.3	WXS	Illumina GAIIx	Phase_I	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	8	85	---	---	---	---	T	145741718	C	T	145741718	1	4	98	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	10127239	145741718	622304	16	4902										
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-													0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	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_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs			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)tttfs		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		Somatic				FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_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	WXS	Illumina GAIIx	Phase_I	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	98	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		90768708	44766039	17	4903										
AHNAK	79026	broad.mit.edu	37	chr11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A													0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	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)atgfs		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		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M808fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	98	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	18	4904										
PC	5091	broad.mit.edu	37	chr11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	cacagtctccatcttcatggCactgagcacacacaggggct	9	14	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.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_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR	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		Somatic				PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S	p.A1142S	NM_001040716.1	NP_001035806.1	WXS	Illumina GAIIx	Phase_I	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	5	211	---	---	---	---	A	66616483	C	A	66616483	3	1	98	1	0	0	0	0	1	0	0	0	11497	710	25	3	116	3	PC	11	66616483	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	4317018	66616483	68390033	19	4905										
FAT3	120114	broad.mit.edu	37	chr11	92086739	92086739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	gtgaatgaaagtgtcccagtGggaaccagcgttctaacagt	12	8	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.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V|FAT3_ENST00000541502.1_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)	Somatic				FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V	p.V487V			WXS	Illumina GAIIx	Phase_I	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	19	43	---	---	---	---	A	92086739	G	A	92086739	2	1	98	1	0	0	0	0	0	0	0	1	5691	1335	47	2		2	FAT3	11	92086739	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	25470256	92086739	42919777	20	4906										
IFT140	9742	broad.mit.edu	37	chr16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	gcgcgccatgttctcccagaCggcctcactgtgggcagacg	13	15	2	2	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		Somatic				IFT140_ENST00000361339.5_5'UTR	p.V803F	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	A	1576790	C	A	1576790	3	1	98	1	0	0	0	0	1	0	0	0	7556	536	19	3	2029	3	IFT140	16	1576790	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		1576790	88777963	21	4907										
CES8	283848	broad.mit.edu	37	chr16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	catttcccagagtggcaccgCgttattcagacttttcatca	7	12	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.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_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000540947.2_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V			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		Somatic				CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V	p.A250V	NM_173815.6	NP_776176.5	WXS	Illumina GAIIx	Phase_I	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	64	37	---	---	---	---	T	67037031	C	T	67037031	3	4	98	1	0	0	0	0	1	0	0	0	3273	768	27	2	852	2	CES8	16	67037031	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	65460241	67037031	23317722	22	4908										
KIAA0753	9851	broad.mit.edu	37	chr17	6503779	6503779	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ctaagtgggtggcagaaacaCtatttagaaataaaattgaa	9	4	0	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.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_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			Somatic				KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site		NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	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	46	90	---	---	---	---	T	6503779	C	T	6503779	5	4	98	1	0	0	0	0	0	0	1	0	8191	579	20	2	922	2	KIAA0753	17	6503779	Splice_Site	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		6503779	74691431	23	4909										
SLC4A1	6521	broad.mit.edu	37	chr17	42340029	42340029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ggctcctccatctgggactcGgggatgtctgggtcttcata	13	11	4	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.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			Somatic				AC003043.1_ENST00000597382.1_Intron	p.P27P	NM_000342.3	NP_000333.1	WXS	Illumina GAIIx	Phase_I	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	11	27	---	---	---	---	A	42340029	G	A	42340029	2	1	98	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	35836250	42340029	38855181	24	4910										
DNAH17	8632	broad.mit.edu	37	chr17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	cccgaggaggttcccacgcaCgcccccaagctcgattttct	9	17	1	0	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		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M	p.V448M			WXS	Illumina GAIIx	Phase_I			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	15	13	---	---	---	---	T	76563191	C	T	76563191	3	4	98	1	0	0	0	0	1	0	0	0	4601	536	19	2	12334	2	DNAH17	17	76563191	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	34223162	76563191	4632019	25	4911										
HGS	9146	broad.mit.edu	37	chr17	79657219	79657219	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ttcatctctccagggcacgtCtttccagaattcaaagagag	8	11	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.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			Somatic					p.V141V	NM_004712.4	NP_004703.1	WXS	Illumina GAIIx	Phase_I	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	14	146	---	---	---	---	A	79657219	C	A	79657219	2	1	98	1	0	0	0	0	0	0	0	1	7087	900	32	3		3	HGS	17	79657219	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3094028	79657219	1537991	26	4912										
TPM4	7171	broad.mit.edu	37	chr19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	atttgcagagagaacggttgCaaaactggaaaagacaattg	11	5	0	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_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR	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		Somatic				TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G	p.A211G	NM_003290.2	NP_003281.1	WXS	Illumina GAIIx	Phase_I	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	5	196	---	---	---	---	G	16204531	C	G	16204531	3	3	98	1	0	0	0	0	1	0	0	0	16405	710	25	4	906	4	TPM4	19	16204531	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		16204531	42924452	27	4913										
CATSPERG	57828	broad.mit.edu	37	chr19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ccgggcgcggccgccgcgcgTcctggagcgctcgggcttcc	17	18	0	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.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		Somatic				CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|CATSPERG_ENST00000215069.4_3'UTR	p.V667G	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	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	5	24	---	---	---	---	G	38852407	T	G	38852407	3	3	98	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	28	4914										
TRIOBP	11078	broad.mit.edu	37	chr22	38121845	38121845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ctcccagacacatcagatgcCgagcatcagtgtcagtcccc	8	16	3	2	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			Somatic					p.A1094A	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	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	6	279	---	---	---	---	T	38121845	C	T	38121845	2	4	98	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	29	4915										
KLHL4	56062	broad.mit.edu	37	chrX	86887270	86887270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.807302231237322	0	0.857758620689655	0.4	1	0	ttggctacatattggcaccaTgaatggccgtaggcttcaat	10	9	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.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	56062					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		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	p.M462T	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	C	86887270	T	C	86887270	3	2	98	1	0	0	0	0	1	0	0	0	8391	1464	51	2	1411	2	KLHL4	23	86887270	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08		86887270	68383290	30	4916										
SP100	6672	broad.mit.edu	37	chr2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	aagaattcccaaagatgaaaAtattaattttaaacaatctg	4	5	1	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.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000409112.1_Missense_Mutation_p.N597S|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000340126.4_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		Somatic				SP100_ENST00000409112.1_Missense_Mutation_p.N597S|SP100_ENST00000340126.4_Missense_Mutation_p.N597S	p.N597S	NM_003113.3	NP_003104.2	WXS	Illumina GAIIx	Phase_I	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	5	139	---	---	---	---	G	231368925	A	G	231368925	3	3	99	1	0	0	0	0	1	0	0	0	14960	101	4	2	1872	2	SP100	2	231368925	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		231368925	11830448	1	4917										
DNAH1	25981	broad.mit.edu	37	chr3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	gacagaggagatcaaagccaAtgagaaggccaagaaggcac	13	8	1	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.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		Somatic					p.N2896S	NM_015512.4	NP_056327	WXS	Illumina GAIIx	Phase_I	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	9	54	---	---	---	---	G	52420237	A	G	52420237	3	3	99	1	0	0	0	0	1	0	0	0	4597	101	4	2	8901	2	DNAH1	3	52420237	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		52420237	145602193	2	4918										
GABRB1	2560	broad.mit.edu	37	chr4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	tcctcagcaccctggaaatcCggaatgagacgagtggctcg	12	12	1	1	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		Somatic				GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	p.R375W	NM_000812.3	NP_000803.2	WXS	Illumina GAIIx	Phase_I	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	8	166	---	---	---	---	T	47427733	C	T	47427733	3	4	99	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	3	4919										
PCDHA12	56137	broad.mit.edu	37	chr5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	gctgcagttccaggtgagcgCgcgcgacgccggcgtgccgc	17	15	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	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_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	56137							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		Somatic				PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron	p.A537V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	7	336	---	---	---	---	T	140256667	C	T	140256667	3	4	99	1	0	0	0	0	1	0	0	0	11522	768	27	2	1612	2	PCDHA12	5	140256667	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		140256667	40658593	4	4920										
PCDHB6	56130	broad.mit.edu	37	chr5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	acagagactcaggcatcaacGcccaggtcacctactcgctg	9	15	3	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	56130				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		Somatic				PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	WXS	Illumina GAIIx	Phase_I	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	14	529	---	---	---	---	A	140531282	G	A	140531282	3	1	99	1	0	0	0	0	1	0	0	0	11546	1087	38	2	1446	2	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	274615	140531282	40383978	5	4921										
PCDHB16	57717	broad.mit.edu	37	chr5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	acagagactcaggcaccaacGcccaggtcacctactcgctg	9	16	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	57717				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		Somatic					p.A484T	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	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	82	349	---	---	---	---	A	140563584	G	A	140563584	3	1	99	1	0	0	0	0	1	0	0	0	11541	1087	38	2	1452	2	PCDHB16	5	140563584	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	32302	140563584	40351676	6	4922										
ZNF165	7718	broad.mit.edu	37	chr6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	accttagtcaacaccagagaAttcacatgagggaaaaccta	7	10	2	2			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		Somatic					p.I477L	NM_003447.3	NP_003438.1	WXS	Illumina GAIIx	Phase_I	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	30	67	---	---	---	---	C	28057219	A	C	28057219	3	2	99	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	7	4923										
NCR2	9436	broad.mit.edu	37	chr6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-													0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	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)gagfs		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		Somatic				NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	p.E102fs	NM_001199510.1	NP_001186439.1	WXS	Illumina GAIIx	Phase_I	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	99	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	8	4924										
FOXP2	93986	broad.mit.edu	37	chr7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	acttatgcaactctcataagGcaggtaagtagaaggaaaat	9	6	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.chr7:114299484G>C	ENST00000393494.2	+	12	1821	c.1542G>C	c.(1540-1542)agG>agC	p.R514S	FOXP2_ENST00000408937.3_Missense_Mutation_p.R539S|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S			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		Somatic				FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393500.3_3'UTR	p.R539S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	WXS	Illumina GAIIx	Phase_I	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	27	98	---	---	---	---	C	114299484	G	C	114299484	3	2	99	1	0	0	0	0	1	0	0	0	6027	1194	42	4	1751	4	FOXP2	7	114299484	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		114299484	44839179	9	4925										
UTP23	84294	broad.mit.edu	37	chr8	117783946	117783946	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	ataagtggtcccaatcctctTagttgtttgaagaaaaagaa	8	6	1	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.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_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			Somatic				UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron	p.L205L	NM_032334.2	NP_115710.2	WXS	Illumina GAIIx	Phase_I	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	21	90	---	---	---	---	A	117783946	T	A	117783946	2	1	99	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		117783946	28580076	10	4926										
FKBP15	23307	broad.mit.edu	37	chr9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	ctgccacaatgaggtcctggGagagcactgcatccagggaa	13	11	0	2			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		Somatic					p.S183C	NM_015258.1	NP_056073.1	WXS	Illumina GAIIx	Phase_I	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	12	34	---	---	---	---	C	115962194	G	C	115962194	3	2	99	1	0	0	0	0	1	0	0	0	5905	1174	41	4	3199	4	FKBP15	9	115962194	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		115962194	25251237	11	4927										
SLC25A28	81894	broad.mit.edu	37	chr10	101373523	101373523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	ttttttaacttttcgtagcaGgcaaaataaagggcgtgggc	11	6	0	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.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			Somatic				SLC25A28_ENST00000496035.1_5'UTR	p.A150A	NM_031212.3	NP_112489.3	WXS	Illumina GAIIx	Phase_I	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	16	68	---	---	---	---	A	101373523	G	A	101373523	2	1	99	1	0	0	0	0	0	0	0	1	14491	987	35	2		2	SLC25A28	10	101373523	Silent	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		101373523	34161224	12	4928										
BTBD10	84280	broad.mit.edu	37	chr11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	actagcaccatgtagactcaTtttggtgtggtcaactcctc	8	11	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.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_ENST00000532261.1_5'UTR|BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	68	---	---	---	---	C	13443342	T	C	13443342	3	2	99	1	0	0	0	0	1	0	0	0	1538	1493	52	2	1310	2	BTBD10	11	13443342	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08		13443342	121563174	13	4929										
CNTN1	1272	broad.mit.edu	37	chr12	41316217	41316217	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	gtcagaagcactgaagcaacCctgagctttggatgtaagta	11	8	1	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_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547849.1_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			Somatic				CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000547849.1_Silent_p.T129T	p.T129T	NM_001843.3	NP_001834.2	WXS	Illumina GAIIx	Phase_I	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	4	87	---	---	---	---	A	41316217	C	A	41316217	2	1	99	1	0	0	0	0	0	0	0	1	3640	610	22	1		1	CNTN1	12	41316217	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		41316217	92535678	14	4930										
AMIGO2	91523	broad.mit.edu	37	chr12	47472525	47472525	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	tttgcaaacgatactggaatCcactcagaatccagaagccc	7	12	1	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_ENST00000550413.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000266581.4_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_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		Somatic				AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*	p.W87*	NM_181847.4	NP_862830.1	WXS	Illumina GAIIx	Phase_I	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	33	137	---	---	---	---	T	47472525	C	T	47472525	1	4	99	0	1	0	0	0	0	0	0	0	576	856	30	2		2	AMIGO2	12	47472525	5'Flank	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	6156308	47472525	86379370	15	4931										
FLT1	2321	broad.mit.edu	37	chr13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-													0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	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)ctcfs		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		Somatic				FLT1_ENST00000540678.1_5'UTR	p.L778fs	NM_002019.4	NP_002010.2	WXS	Illumina GAIIx	Phase_I	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	99	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	16	4932										
ANKS3	124401	broad.mit.edu	37	chr16	4780010	4780010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	cactccttcaccacttcataCtggccaatggaagcagctgt	7	14	2	0	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_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR	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			Somatic				ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR	p.Q47Q	NM_133450.3	NP_597707.1	WXS	Illumina GAIIx	Phase_I	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	40	361	---	---	---	---	T	4780010	C	T	4780010	2	4	99	1	0	0	0	0	0	0	0	1	690	564	20	2		2	ANKS3	16	4780010	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		4780010	85574743	17	4933										
DNAH3	55567	broad.mit.edu	37	chr16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	taggacggtattcatggattCttcatagaccacggggtaca	11	8	3	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.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*		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.E3870*	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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	144	473	---	---	---	---	A	20952769	C	A	20952769	4	1	99	1	0	0	0	0	0	1	0	0	4603	922	32	3	757	3	DNAH3	16	20952769	Nonsense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	16172759	20952769	69401984	18	4934										
ACLY	47	broad.mit.edu	37	chr17	40025296	40025296	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	aaaacagctacaatgctcacCgagtaaaggacccacagttt	7	11	1	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.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L	ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L|ACLY_ENST00000588779.1_5'UTR	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.(3133-3135)cGg>cTg		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			Somatic				ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L	p.R1045L	NM_001096.2	NP_001087.2	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			27	3264	-		Breast(137;0.000143)	1045					B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.3134G>T	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	5	485	---	---	---	---	A	40025296	C	A	40025296	5	1	99	1	0	0	0	0	0	0	1	0	143	666	23	1	183	1	ACLY	17	40025296	Splice_Site	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		40025296	41169914	19	4935										
NFE2L1	4779	broad.mit.edu	37	chr17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	accctttggggggtctgttaGatgaagctatgttggatgag	15	5	1	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.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H|RP5-890E16.4_ENST00000583349.1_RNA	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		Somatic				NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	p.D443H	NM_003204.2	NP_003195.1	WXS	Illumina GAIIx	Phase_I	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	37	118	---	---	---	---	C	46136011	G	C	46136011	3	2	99	1	0	0	0	0	1	0	0	0	10367	942	33	4	1345	4	NFE2L1	17	46136011	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	6110715	46136011	35059199	20	4936										
GNA13	10672	broad.mit.edu	37	chr17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	agcatcaaccagcaccctcaTacctttgtttaaaaagaaga	5	11	2	2			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		Somatic				GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	p.M96V	NM_006572.4	NP_006563.2	WXS	Illumina GAIIx	Phase_I	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	26	104	---	---	---	---	C	63049844	T	C	63049844	3	2	99	1	0	0	0	0	1	0	0	0	6501	1406	49	2	859	2	GNA13	17	63049844	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	16913833	63049844	18145366	21	4937										
PDCD5	9141	broad.mit.edu	37	chr19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	2	1	1.15648286140089	3.18032786885246	0	0.4	1	0	tctggttctcctaggtatcaGaacaaggtttaatagaaatc	8	7	3	2			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_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Intron|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																																						ENST00000590247.2																			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		Somatic				PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000419343.3_3'UTR	p.E89Q	NM_004708.3	NP_004699.1	WXS	Illumina GAIIx	Phase_I	O14737	PDCD5_HUMAN			5	459	+	Esophageal squamous(110;0.137)							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	23	94	---	---	---	---	C	33077770	G	C	33077770	3	2	99	1	0	0	0	0	1	0	0	0	11622	943	33	4	283	4	PDCD5	19	33077770	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		33077770	26051213	22	4938										
HFM1	164045	broad.mit.edu	37	chr1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	atgatgataagcagcaccatCttttaagatatctgtaatag	7	6	2	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.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	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		Somatic				HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	p.D581H	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	22	71	---	---	---	---	G	91818698	C	G	91818698	3	3	100	1	0	0	0	0	1	0	0	0	7083	913	32	4	2666	4	HFM1	1	91818698	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		91818698	157431923	1	4939										
SDHC	6391	broad.mit.edu	37	chr1	161326467	161326467	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ctacttggttttctcctcagGggtctctctttttggcatgt	9	10	4	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.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000342751.4_Intron|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.(241-243)gGg>gAg		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			Somatic				SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000432287.2_Splice_Site_p.G47E|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR	p.G81E	NM_003001.3	NP_002992.1	WXS	Illumina GAIIx	Phase_I	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.242G>A	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	59	139	---	---	---	---	A	161326467	G	A	161326467	5	1	100	1	0	0	0	0	0	0	1	0	13966	1246	43	2	260	2	SDHC	1	161326467	Splice_Site	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	69507769	161326467	87924154	2	4940										
SUSD4	55061	broad.mit.edu	37	chr1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ggacgggagcatgacgggcaCgccgtctaccaccacaaagt	13	13	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.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M			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		Somatic				SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M	p.V372M			WXS	Illumina GAIIx	Phase_I	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	12	29	---	---	---	---	T	223396921	C	T	223396921	3	4	100	1	0	0	0	0	1	0	0	0	15407	536	19	2	366	2	SUSD4	1	223396921	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	62070454	223396921	25853700	3	4941										
SDC1	6382	broad.mit.edu	37	chr2	20402631	20402631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ttcgtccttcttcttcatgcGgtacagcatgaaacccacca	6	14	3	1	rs373949277		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.chr2:20402631G>T	ENST00000254351.4	-	5	1073	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_Missense_Mutation_p.R277S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	277					canonical Wnt signaling pathway (GO:0060070)|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)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTTCATGCGGTACAGCATG	0.597																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(829-831)Cgc>Agc		syndecan 1							136	136	136					2																	20402631		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20402631G>T	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"CD molecules", "Proteoglycans / Cell Surface : Syndecans"	10658	protein-coding gene	gene with protein product	"syndecan proteoglycan 1"	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.829C>A	2.37:g.20402631G>T	ENSP00000254351:p.Arg277Ser		Somatic				SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.R277S	p.R277S	NM_001006946.1	NP_001006947	WXS	Illumina GAIIx	Phase_I	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	6	1219	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		277					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.829C>A	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835895	0.71373	.	.	ENSG00000115884	ENST00000254351;ENST00000381150	T;T	0.74315	-0.83;-0.83	4.63	3.67	0.42095	Neurexin/syndecan/glycophorin C (1);	0.000000	0.42294	D	0.000731	D	0.84808	0.5554	M	0.82630	2.6	0.48087	D	0.999584	D	0.89917	1.0	D	0.91635	0.999	D	0.86044	0.1521	10	0.87932	D	0	-25.0509	9.5846	0.39508	0.0:0.0:0.6657:0.3343	.	277	P18827	SDC1_HUMAN	S	277	ENSP00000254351:R277S;ENSP00000370542:R277S	ENSP00000254351:R277S	R	-	1	0	SDC1	20266112	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.884000	0.28214	2.281000	0.76405	0.561000	0.74099	CGC		0.597	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		5	397	5	397	---	---	---	---	T	20402631	G	T	20402631	3	4	100	1	0	0	0	0	1	0	0	0	13951	1116	39	1	107	1	SDC1	2	20402631	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		20402631	222796742	4	4942										
TTN	7273	broad.mit.edu	37	chr2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	tatcatcttcatcaagaatcTgatcatcctttagccaggtt	5	10	6	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.chr2:179593776T>C	ENST00000591111.1	-	63	18262	c.18038A>G	c.(18037-18039)cAg>cGg	p.Q6013R	TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|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		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.Q6330R	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	19	37	---	---	---	---	C	179593776	T	C	179593776	3	2	100	1	0	0	0	0	1	0	0	0	16732	1580	55	2	85732	2	TTN	2	179593776	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	159191145	179593776	63605597	5	4943										
C3orf62	375341	broad.mit.edu	37	chr3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	aaagcgaccatgtctttatgTaatgcattggaaatgcacag	9	7	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.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		Somatic					p.Y3C	NM_198562.2	NP_940964.1	WXS	Illumina GAIIx	Phase_I	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	14	60	---	---	---	---	C	49314298	T	C	49314298	3	2	100	1	0	0	0	0	1	0	0	0	2238	1638	57	2	807	2	C3orf62	3	49314298	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		49314298	148708132	6	4944										
GPR87	53836	broad.mit.edu	37	chr3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	aaccctgatgctctggttatGttttcgctttcggcttgact	9	10	1	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.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_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	53836					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		Somatic				MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.H250Y	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	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	85	141	---	---	---	---	A	151012286	G	A	151012286	3	1	100	1	0	0	0	0	1	0	0	0	6716	1377	48	2	332	2	GPR87	3	151012286	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	101697988	151012286	47010144	7	4945										
CNOT6L	246175	broad.mit.edu	37	chr4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	tgttctcaaccagccattgaGgatctaaaggccccaggaca	9	12	2	1	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		Somatic				CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L	p.P509L			WXS	Illumina GAIIx	Phase_I	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	107	168	---	---	---	---	A	78641727	G	A	78641727	3	1	100	1	0	0	0	0	1	0	0	0	3623	1000	35	2	145	2	CNOT6L	4	78641727	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		78641727	112512549	8	4946										
AGXT2L1	64850	broad.mit.edu	37	chr4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	gaattacttgtagatgatgtGctgagcttcagctgtggcag	13	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.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N	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		Somatic				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	WXS	Illumina GAIIx	Phase_I					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	5	422	---	---	---	---	T	109667931	G	T	109667931	3	4	100	1	0	0	0	0	1	0	0	0	406	1319	46	3	356	3	AGXT2L1	4	109667931	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	31026204	109667931	81486345	9	4947										
PDZD2	23037	broad.mit.edu	37	chr5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-													0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	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)cacfs		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		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs	p.H2238fs			WXS	Illumina GAIIx	Phase_I	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	100	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	10	4948										
ZNF608	57507	broad.mit.edu	37	chr5	123984772	123984772	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	gcagcagacctcgctctcttCcctctgccccggccccctct	7	22	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.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			Somatic				ZNF608_ENST00000504926.1_Silent_p.G8G	p.G435G	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	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	36	75	---	---	---	---	A	123984772	C	A	123984772	2	1	100	1	0	0	0	0	0	0	0	1	18031	842	30	3		3	ZNF608	5	123984772	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	91894504	123984772	56930488	11	4949										
PCDHB3	56132	broad.mit.edu	37	chr5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	tggcggtggacggcgactcgGgccagaacgcctggctgtcg	18	12	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.chr5:140482022G>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	56132				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		Somatic					p.G597C	NM_018937.2	NP_061760.1	WXS	Illumina GAIIx	Phase_I	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	34	131	---	---	---	---	T	140482022	G	T	140482022	3	4	100	1	0	0	0	0	1	0	0	0	11543	1232	43	1	1791	1	PCDHB3	5	140482022	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	16497250	140482022	40433238	12	4950										
UNC5A	90249	broad.mit.edu	37	chr5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	taggcggggtgccgactggcGgactctggcccagaaactcc	15	13	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.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		Somatic				UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	p.R778Q	NM_133369.2	NP_588610.2	WXS	Illumina GAIIx	Phase_I	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	83	142	---	---	---	---	A	176306459	G	A	176306459	3	1	100	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	35824437	176306459	4608801	13	4951										
C6orf70	55780	broad.mit.edu	37	chr6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ctctgctgcctttccccgaaGaactcactcggcaagccgtc	8	17	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.chr6:170175420G>T	ENST00000366773.3	+	14	1405	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E322*	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											c.(964-966)Gaa>Taa		ER membrane-associated RNA degradation							76	67	70					6																	170175420		2203	4300	6503	SO:0001587	stop_gained	55780							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*		Somatic				ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000366773.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*|ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*	p.E322*			WXS	Illumina GAIIx	Phase_I					13	1477	+			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	16	34	---	---	---	---	T	170175420	G	T	170175420	4	4	100	1	0	0	0	0	0	1	0	0	2370	943	33	3	1426	3	C6orf70	6	170175420	Nonsense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		170175420	939647	14	4952										
VCPIP1	80124	broad.mit.edu	37	chr8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ggaggcttccggagcggtccTtgccatagcccacagtgtta	13	12	0	0	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		Somatic					p.K182R	NM_025054.4	NP_079330.2	WXS	Illumina GAIIx	Phase_I	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	91	132	---	---	---	---	C	67578649	T	C	67578649	3	2	100	1	0	0	0	0	1	0	0	0	17138	1609	56	2	3135	2	VCPIP1	8	67578649	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		67578649	78785373	15	4953										
ARFGEF1	10565	broad.mit.edu	37	chr8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	gaaataactcacttgctgtaGatttaattttgctgacttct	6	7	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.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	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		Somatic				ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	p.S1604F	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	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	18	36	---	---	---	---	A	68123726	G	A	68123726	3	1	100	1	0	0	0	0	1	0	0	0	852	942	33	2	762	2	ARFGEF1	8	68123726	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	545077	68123726	78240296	16	4954										
PKHD1L1	93035	broad.mit.edu	37	chr8	110420309	110420309	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ctgcttggttatgaagtagtTgaagggaataatgtcacact	11	5	1	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.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)	Somatic					p.V615V	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	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	35	44	---	---	---	---	A	110420309	T	A	110420309	2	1	100	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	17	4955										
IFNA16	3449	broad.mit.edu	37	chr9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	aagagtgattctttgaaagtAtttcctcacagccaggatgg	10	7	2	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.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		Somatic					p.Y146H	NM_002173.2	NP_002164.1	WXS	Illumina GAIIx	Phase_I	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	192	273	---	---	---	---	G	21216869	A	G	21216869	3	3	100	1	0	0	0	0	1	0	0	0	7535	449	16	2	137	2	IFNA16	9	21216869	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		21216869	119996562	18	4956										
CYP2C8	1558	broad.mit.edu	37	chr10	96827286	96827286	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	acagaaatatgtgcacctacCaagtcctttagtaattcttt	5	9	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.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.(331-333)Gga>Tga		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			Somatic				CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.G111*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	WXS	Illumina GAIIx	Phase_I	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.331G>T	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	21	173	---	---	---	---	A	96827286	C	A	96827286	5	1	100	1	0	0	0	0	0	0	1	0	4167	608	21	1	1173	1	CYP2C8	10	96827286	Splice_Site	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		96827286	38707461	19	4957										
HPS6	79803	broad.mit.edu	37	chr10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	cagcacattccgggcacctcAggctctggcctccatcctcc	8	19	2	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.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		Somatic					p.Q436P	NM_024747.5	NP_079023.2	WXS	Illumina GAIIx	Phase_I	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	24	125	---	---	---	---	C	103826538	A	C	103826538	3	2	100	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	20	4958										
GSTO2	119391	broad.mit.edu	37	chr10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	gcccctattctcacaggaccCgcctcgtcctcaaggccaaa	7	18	2	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.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)																										ENST00000369707.2																			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.(31-33)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		Somatic	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_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S	p.R11S	NM_001191014.1	NP_001177943.1	WXS	Illumina GAIIx	Phase_I	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	1	145	+		Colorectal(252;0.178)						A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.31C>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	4	101	---	---	---	---	A	106035064	C	A	106035064	3	1	100	1	0	0	0	0	1	0	0	0	6843	652	23	1	121	1	GSTO2	10	106035064	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	2208526	106035064	29499683	21	4959										
ARL2	402	broad.mit.edu	37	chr11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ggacctgcctggagcactgtCctctaacgccatccgcgagg	12	15	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.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F	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		Somatic				ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	p.S134F	NM_001667.3	NP_001658.2	WXS	Illumina GAIIx	Phase_I	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	8	22	---	---	---	---	T	64787952	C	T	64787952	3	4	100	1	0	0	0	0	1	0	0	0	933	855	30	2	415	2	ARL2	11	64787952	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		64787952	70218564	22	4960										
ADAMTS15	170689	broad.mit.edu	37	chr11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	cctagcctccggaaagagctTccgggaggagcagtgtgagg	16	10	0	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		Somatic					p.F579S	NM_139055.2	NP_620686.1	WXS	Illumina GAIIx	Phase_I	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	95	231	---	---	---	---	C	130340830	T	C	130340830	3	2	100	1	0	0	0	0	1	0	0	0	260	1783	62	2	1758	2	ADAMTS15	11	130340830	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	65552878	130340830	4665686	23	4961										
COG6	57511	broad.mit.edu	37	chr13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	cagcaaaggaacagactcaaGatttaatagtaaaaaccact	6	8	1	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.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MIR4305_ENST00000583252.1_RNA|COG6_ENST00000416691.1_Missense_Mutation_p.D131N	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		Somatic				COG6_ENST00000455146.3_Missense_Mutation_p.D131N	p.D131N	NM_001145079.1	NP_001138551.1	WXS	Illumina GAIIx	Phase_I	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	42	44	---	---	---	---	A	40239254	G	A	40239254	3	1	100	1	0	0	0	0	1	0	0	0	3662	942	33	2	405	2	COG6	13	40239254	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		40239254	74930624	24	4962										
DEGS2	51466	broad.mit.edu	37	chr14	100613165	100613165	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	agggccccagggagtcctcaAacacaaaatcccagagcacc	9	15	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.chr14:100613165A>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000305631.5_Missense_Mutation_p.F302S|DEGS2_ENST00000553834.1_Silent_p.V54V			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			Somatic				DEGS2_ENST00000553834.1_Silent_p.V54V	p.F302S	NM_206918.2	NP_996801.2	WXS	Illumina GAIIx	Phase_I	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	59	108	---	---	---	---	G	100613165	A	G	100613165	1	3	100	0	1	0	0	0	0	0	0	0	4423	14	1	2		2	DEGS2	14	100613165	IGR	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		100613165	6736375	25	4963										
UNC13C	440279	broad.mit.edu	37	chr15	54306249	54306249	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	atacttgtgtactttgaaacCcctcaacaaagggattctgt	7	9	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.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			Somatic				UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T	p.T383T			WXS	Illumina GAIIx	Phase_I	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	14	89	---	---	---	---	G	54306249	C	G	54306249	2	3	100	1	0	0	0	0	0	0	0	1	16983	610	22	4		4	UNC13C	15	54306249	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		54306249	48225143	26	4964										
TP53	7157	broad.mit.edu	37	chr17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	aatactccacacgcaaatttCcttccactcggataagatgc	5	13	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.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000420246.2_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)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	27	53	---	---	---	---	A	7578253	C	A	7578253	3	1	100	1	0	0	0	0	1	0	0	0	16378	855	30	3	698	3	TP53	17	7578253	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		7578253	73616957	27	4965										
ARHGEF15	22899	broad.mit.edu	37	chr17	8215726	8215726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ccagtccccccacccaagccGtctgggtcaccctgcacgcc	8	22	2	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			Somatic				ARHGEF15_ENST00000421050.1_Silent_p.P123P	p.P123P	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	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	21	271	---	---	---	---	A	8215726	G	A	8215726	2	1	100	1	0	0	0	0	0	0	0	1	898	1132	40	2		2	ARHGEF15	17	8215726	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	637473	8215726	72979484	28	4966										
MEGF8	1954	broad.mit.edu	37	chr19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	tgtaaccagtctggggcctgCacctggtgccatggggcctg	15	12	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.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		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	p.C1825W	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	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	39	67	---	---	---	---	G	42865114	C	G	42865114	3	3	100	1	0	0	0	0	1	0	0	0	9463	718	25	4	5597	4	MEGF8	19	42865114	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		42865114	16263869	29	4967										
ZNF404	342908	broad.mit.edu	37	chr19	44384267	44384267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ctgagagaagtctatggcaaCatcgctgaatgtcaatggca	11	8	2	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.chr19:44384267C>A	ENST00000587539.1	-	2	30	c.31G>T	c.(31-33)Gtt>Ttt	p.V11F	ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F|ZNF404_ENST00000588094.1_5'Flank	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	11	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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCTATGGCAACATCGCTGAAT	0.378																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(31-33)Gtt>Ttt		zinc finger protein 404							109	113	111					19																	44384267		2134	4271	6405	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44384267C>A	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"Zinc fingers, C2H2-type", "-"	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.31G>T	19.37:g.44384267C>A	ENSP00000466051:p.Val11Phe		Somatic				ZNF404_ENST00000324394.6_Missense_Mutation_p.V9F	p.V11F	NM_001033719.2	NP_001028891.2	WXS	Illumina GAIIx	Phase_I	Q494X3	ZN404_HUMAN			2	30	-		Prostate(69;0.0352)	11			KRAB.		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.31G>T	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864496	0.51482	.	.	ENSG00000176222	ENST00000324394	T	0.10477	2.87	1.98	0.929	0.19449	Krueppel-associated box (4);	.	.	.	.	T	0.35885	0.0947	H	0.99900	4.915	0.25482	N	0.987728	P	0.52692	0.955	P	0.44946	0.465	T	0.47812	-0.9088	9	0.87932	D	0	.	7.9093	0.29780	0.0:0.8595:0.0:0.1405	.	11	Q494X3	ZN404_HUMAN	F	9	ENSP00000319479:V9F	ENSP00000319479:V9F	V	-	1	0	ZNF404	49076107	0.894000	0.30519	0.967000	0.41034	0.927000	0.56198	0.693000	0.25497	0.433000	0.26313	0.596000	0.82720	GTT		0.378	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		4	159	4	159	---	---	---	---	A	44384267	C	A	44384267	3	1	100	1	0	0	0	0	1	0	0	0	17883	478	17	3	1635	3	ZNF404	19	44384267	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	1519153	44384267	14744716	30	4968										
PLCB4	5332	broad.mit.edu	37	chr20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	ttgagatgtatgaacctgatGaagatttgaagaaaaaaggt	11	2	0	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.chr20:9360791G>A	ENST00000378493.1	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_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		Somatic				PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K	p.E279K	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	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	16	44	---	---	---	---	A	9360791	G	A	9360791	3	1	100	1	0	0	0	0	1	0	0	0	12030	1291	45	2	873	2	PLCB4	20	9360791	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		9360791	53664729	31	4969										
CXorf22	170063	broad.mit.edu	37	chrX	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-													0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	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)gttfs		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		Somatic					p.V946fs	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	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	100	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	32	4970										
SLITRK2	84631	broad.mit.edu	37	chrX	144906346	144906346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	2.00621118012422	2.34057971014493	1.91501976284585	0.523809523809524	1	0	caagacagaatcaataaaacCgttttatatggaactcccag	6	9	1	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.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_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			Somatic				SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T	p.T801T			WXS	Illumina GAIIx	Phase_I	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	7	153	---	---	---	---	T	144906346	C	T	144906346	2	4	100	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	108898787	144906346	10364214	33	4971										
ARHGEF19	128272	broad.mit.edu	37	chr1	16534595	16534595	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	cactcgggtggacccagacaActccaccctgggctcctctg	10	17	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.chr1:16534595A>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			Somatic					p.L180L	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	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	4	100	---	---	---	---	G	16534595	A	G	16534595	2	3	101	1	0	0	0	0	0	0	0	1	902	40	2	2		2	ARHGEF19	1	16534595	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		16534595	232716026	1	4972										
BEST4	266675	broad.mit.edu	37	chr1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gcttgtagatgcttcccctcCagcggagaagcaggccagag	13	12	0	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*		Somatic					p.W24*	NM_153274.2	NP_695006.1	WXS	Illumina GAIIx	Phase_I	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	26	215	---	---	---	---	T	45253307	C	T	45253307	4	4	101	1	0	0	0	0	0	1	0	0	1407	595	21	2	1386	2	BEST4	1	45253307	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	28718712	45253307	203997314	2	4973										
EVI5	7813	broad.mit.edu	37	chr1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-													0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	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_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	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)ggtfs		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		Somatic				EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs	p.G754fs	NM_005665.4	NP_005656.4	WXS	Illumina GAIIx	Phase_I	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	101	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	47726078	92979385	156271236	3	4974										
SPRR1A	6698	broad.mit.edu	37	chr1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tgccaccccaaggtgcctgaGccctgccaccccaaagtgcc	9	19	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.chr1:152957847G>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		Somatic				SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	WXS	Illumina GAIIx	Phase_I	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	21	250	---	---	---	---	T	152957847	G	T	152957847	3	4	101	1	0	0	0	0	1	0	0	0	15094	962	34	3	143	3	SPRR1A	1	152957847	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	59978462	152957847	96292774	4	4975										
SHC1	6464	broad.mit.edu	37	chr1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gggtgttgaagtccagggcaCgcattgactggaggacctcc	15	10	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.chr1:154941890C>T	ENST00000368445.5	-	2	744	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000448116.2_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron	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		Somatic				SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H|SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron	p.R177H	NM_001130040.1	NP_001123512.1	WXS	Illumina GAIIx	Phase_I	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	6	35	---	---	---	---	T	154941890	C	T	154941890	3	4	101	1	0	0	0	0	1	0	0	0	14270	536	19	2	1268	2	SHC1	1	154941890	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1984043	154941890	94308731	5	4976										
SLAMF6	114836	broad.mit.edu	37	chr1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tcccccagaatcccgttcacCatcaatggggttaagctgct	8	14	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.chr1:160466146C>T	ENST00000368057.3	-	2	147	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_Missense_Mutation_p.M29I			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		Somatic				SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron	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	WXS	Illumina GAIIx	Phase_I	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	8	283	---	---	---	---	T	160466146	C	T	160466146	3	4	101	1	0	0	0	0	1	0	0	0	14368	594	21	2	939	2	SLAMF6	1	160466146	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	5524256	160466146	88784475	6	4977										
OSR1	130497	broad.mit.edu	37	chr2	19553372	19553372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	actttggagaaagaagagcgCggcaagtgcatggccgggta	16	7	0	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.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			Somatic				OSR1_ENST00000272223.2_Silent_p.P65P	p.P65P			WXS	Illumina GAIIx	Phase_I	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	5	57	---	---	---	---	T	19553372	C	T	19553372	2	4	101	1	0	0	0	0	0	0	0	1	11293	755	27	2		2	OSR1	2	19553372	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19553372	223646001	7	4978										
KCNH7	90134	broad.mit.edu	37	chr2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gtcctaaggaatccaaccatCcgattttgtcagtcaggtaa	8	10	2	0	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		Somatic				KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	p.G586V	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	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	5	136	---	---	---	---	A	163291905	C	A	163291905	3	1	101	1	0	0	0	0	1	0	0	0	8037	855	30	3	1935	3	KCNH7	2	163291905	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	143738533	163291905	79907468	8	4979										
ZNF35	7584	broad.mit.edu	37	chr3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ttggacaaaagccttttacgTgtagcgtgtgtgggaaagga	14	5	0	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.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	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		Somatic				RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R|ZNF35_ENST00000296092.3_3'UTR	p.C224R	NM_003420.3	NP_003411.3	WXS	Illumina GAIIx	Phase_I	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	7	131	---	---	---	---	C	44700525	T	C	44700525	3	2	101	1	0	0	0	0	1	0	0	0	17859	1696	59	2	680	2	ZNF35	3	44700525	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		44700525	153321905	9	4980										
EPHA3	2042	broad.mit.edu	37	chr3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tttacaaagattgacaccatTgcagctgatgaaagtttcac	7	8	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.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_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)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M|EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M	p.I146M	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	10	207	---	---	---	---	G	89259294	T	G	89259294	3	3	101	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	44558769	89259294	108763136	10	4981										
MYLK	4638	broad.mit.edu	37	chr3	123456319	123456319	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tcatcttggttgactccatgGatttccagaacctgcatgcc	8	12	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.chr3:123456319G>T	ENST00000475616.1	-	5	659	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I|MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000360772.3_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			Somatic				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			WXS	Illumina GAIIx	Phase_I	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	9	218	---	---	---	---	T	123456319	G	T	123456319	2	4	101	1	0	0	0	0	0	0	0	1	10056	1164	41	3		3	MYLK	3	123456319	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	34197025	123456319	74566111	11	4982										
KIAA1530	57654	broad.mit.edu	37	chr4	1348988	1348988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ttggagctcgtactgagaaaAtacaaggagctggacatcga	12	7	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.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			Somatic				UVSSA_ENST00000511216.1_Silent_p.K377K|UVSSA_ENST00000507531.1_Silent_p.K377K	p.K377K	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	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	16	21	---	---	---	---	G	1348988	A	G	1348988	2	3	101	1	0	0	0	0	0	0	0	1	8241	98	4	2		2	KIAA1530	4	1348988	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		1348988	189805288	12	4983										
HNRNPD	3184	broad.mit.edu	37	chr4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	cactaccttatctacactctCcgattctttaaatagcacaa	2	13	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.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000508119.1_5'Flank|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	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*		Somatic				HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	p.E149*	NM_031370.2	NP_112738.1	WXS	Illumina GAIIx	Phase_I	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	11	96	---	---	---	---	A	83280638	C	A	83280638	4	1	101	1	0	0	0	0	0	1	0	0	7264	864	30	3	646	3	HNRNPD	4	83280638	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	81931650	83280638	107873638	13	4984										
HEATR7B2	133558	broad.mit.edu	37	chr5	41005012	41005012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	catgcttccaaaggattggtTccttcatgagctgaaataat	8	8	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.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		Somatic				MROH2B_ENST00000506092.2_Missense_Mutation_p.E847G	p.E1292G	NM_173489.4	NP_775760.3	WXS	Illumina GAIIx	Phase_I					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	7	60	---	---	---	---	C	41005012	T	C	41005012	3	2	101	1	0	0	0	0	1	0	0	0	7035	1783	62	2	910	2	HEATR7B2	5	41005012	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		41005012	139910248	14	4985										
EYS	346007	broad.mit.edu	37	chr6	66115187	66115187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tcataagtataagcagaactGctatttgggcaaattcctct	7	8	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.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			Somatic				EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S	p.S312S	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	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	10	131	---	---	---	---	A	66115187	G	A	66115187	2	1	101	1	0	0	0	0	0	0	0	1	5332	1310	46	2		2	EYS	6	66115187	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		66115187	104999880	15	4986										
AKAP9	10142	broad.mit.edu	37	chr7	91667795	91667795	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ctgtctagaatatctgggggAaaagaaaatactgcatcatc	9	7	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.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			Somatic				AKAP9_ENST00000358100.2_Silent_p.G1479G|AKAP9_ENST00000356239.3_Silent_p.G1467G	p.G1479G			WXS	Illumina GAIIx	Phase_I	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	4	63	---	---	---	---	G	91667795	A	G	91667795	2	3	101	1	0	0	0	0	0	0	0	1	459	233	9	2		2	AKAP9	7	91667795	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		91667795	67470868	16	4987										
PPP1R3A	5506	broad.mit.edu	37	chr7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gtctgttttctttgataattCttgaacctgcctaagatctc	6	9	4	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.chr7:113518488C>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*		Somatic					p.E887*	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	5	96	---	---	---	---	A	113518488	C	A	113518488	4	1	101	1	0	0	0	0	0	1	0	0	12371	922	32	3	713	3	PPP1R3A	7	113518488	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	21850693	113518488	45620175	17	4988										
OR2A14	135941	broad.mit.edu	37	chr7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tggtcatctttgcagcctgcGtgttcatcctggtggggcca	13	11	3	0	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		Somatic					p.V203M	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	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	41	356	---	---	---	---	A	143826812	G	A	143826812	3	1	101	1	0	0	0	0	1	0	0	0	10976	1145	40	2	609	2	OR2A14	7	143826812	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	30308324	143826812	15311851	18	4989										
INTS10	55174	broad.mit.edu	37	chr8	19682476	19682476	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	aacagcatacagccatctctCttccaaggttggtttacaaa	6	11	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.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			Somatic					p.L333L	NM_018142.2	NP_060612.2	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	T	19682476	C	T	19682476	2	4	101	1	0	0	0	0	0	0	0	1	7776	900	32	2		2	INTS10	8	19682476	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19682476	126681546	19	4990										
WWP1	11059	broad.mit.edu	37	chr8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gaaaatgccttgtctccaaaTtgcactagtactactgttga	7	9	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.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K|WWP1_ENST00000349423.2_Missense_Mutation_p.N54K	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		Somatic				WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	p.N272K	NM_007013.3	NP_008944.1	WXS	Illumina GAIIx	Phase_I	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	30	55	---	---	---	---	G	87423858	T	G	87423858	3	3	101	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	20	4991										
MMP16	4325	broad.mit.edu	37	chr8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gtgccaaaaatcctccctctCcatcaaagggagagctgtcc	8	14	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.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		Somatic				MMP16_ENST00000544227.1_5'UTR	p.G201E	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	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	36	75	---	---	---	---	T	89180005	C	T	89180005	3	4	101	1	0	0	0	0	1	0	0	0	9655	855	30	2	1405	2	MMP16	8	89180005	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1756147	89180005	57184017	21	4992										
TG	7038	broad.mit.edu	37	chr8	133925308	133925308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	acagagagagccttggtgggCaaggatctccttgggcgctt	15	9	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.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			Somatic				TG_ENST00000377869.1_Silent_p.G1392G	p.G1392G	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	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	27	43	---	---	---	---	T	133925308	C	T	133925308	2	4	101	1	0	0	0	0	0	0	0	1	15810	697	25	2		2	TG	8	133925308	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	44745303	133925308	12438714	22	4993										
ARHGAP39	80728	broad.mit.edu	37	chr8	145773444	145773444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ggcgaccgctggggagagccGgcctggtagcccccgccagc	17	16	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.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_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			Somatic				ARHGAP39_ENST00000540274.1_Silent_p.A342A|ARHGAP39_ENST00000377307.2_Silent_p.A342A	p.A342A			WXS	Illumina GAIIx	Phase_I	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	7	63	---	---	---	---	A	145773444	G	A	145773444	2	1	101	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	23	4994										
ANXA11	311	broad.mit.edu	37	chr10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	cttatactctgatctgatgtCcaggaggtcggtctcgctgc	11	11	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.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_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000372231.3_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		Somatic				ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y	p.D468Y	NM_145869.1	NP_665876.1	WXS	Illumina GAIIx	Phase_I	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	7	93	---	---	---	---	A	81917453	C	A	81917453	3	1	101	1	0	0	0	0	1	0	0	0	716	855	30	3	123	3	ANXA11	10	81917453	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		81917453	53617294	24	4995										
TRIM5	85363	broad.mit.edu	37	chr11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	cagcacatacccccaggatcCaagcagttttcttggacacg	8	14	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.chr11:5686409C>T	ENST00000380034.3	-	8	1368	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000305836.5_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380027.1_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*		Somatic				TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron	p.W371*			WXS	Illumina GAIIx	Phase_I	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	7	210	---	---	---	---	T	5686409	C	T	5686409	4	4	101	1	0	0	0	0	0	1	0	0	16522	595	21	2	463	2	TRIM5	11	5686409	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		5686409	129320107	25	4996										
OR56A1	120796	broad.mit.edu	37	chr11	6048227	6048227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ttcactgccgccccctctgcTttgaatctaagcacagctct	6	16	4	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.chr11:6048227T>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			Somatic					p.K236K	NM_001001917.2	NP_001001917.2	WXS	Illumina GAIIx	Phase_I	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	37	51	---	---	---	---	C	6048227	T	C	6048227	2	2	101	1	0	0	0	0	0	0	0	1	11133	1606	56	2		2	OR56A1	11	6048227	Silent	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	361818	6048227	128958289	26	4997										
MUC15	143662	broad.mit.edu	37	chr11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	actgtttgtggtaagccatcCacttggttccactatcaagg	9	10	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.chr11:26586841C>T	ENST00000455601.2	-	2	683	c.565G>A	c.(565-567)Gga>Aga	p.G189R	ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000436318.2_Missense_Mutation_p.G216R	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		Somatic				ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron	p.G216R			WXS	Illumina GAIIx	Phase_I	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	7	107	---	---	---	---	T	26586841	C	T	26586841	3	4	101	1	0	0	0	0	1	0	0	0	9972	603	21	2	451	2	MUC15	11	26586841	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	20538614	26586841	108419675	27	4998										
SLC5A12	159963	broad.mit.edu	37	chr11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tgaaggccccaatggccaccCaaaatgacaaggtgattcca	9	12	0	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.chr11:26702725C>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		Somatic					p.W451L	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	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	3	35	---	---	---	---	A	26702725	C	A	26702725	3	1	101	1	0	0	0	0	1	0	0	0	14664	595	21	1	520	1	SLC5A12	11	26702725	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	115884	26702725	108303791	28	4999										
C11orf41	25758	broad.mit.edu	37	chr11	33581376	33581376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gcacattcctcaacggcaccGtcgccagcagcctcctcagc	8	19	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.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		Somatic				KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1022I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1022I	p.V1016I			WXS	Illumina GAIIx	Phase_I					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	15	219	---	---	---	---	A	33581376	G	A	33581376	3	1	101	1	0	0	0	0	1	0	0	0	1640	1145	40	2	3086	2	C11orf41	11	33581376	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	6878651	33581376	101425140	29	5000										
CAPRIN2	65981	broad.mit.edu	37	chr12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ctctaacagatccccggctaTtgacaaatggctgagtaggt	10	10	1	3	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_ENST00000308433.5_Missense_Mutation_p.N523I|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N857I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	135	---	---	---	---	A	30867973	T	A	30867973	3	1	101	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	30	5001										
ABCC4	10257	broad.mit.edu	37	chr13	95862991	95862991	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gacagcagattgactatctgGcctgtggttgtcttccccat	10	11	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.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G	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			Somatic				ABCC4_ENST00000412704.1_Silent_p.G192G|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000538287.1_3'UTR	p.G192G	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	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	6	42	---	---	---	---	C	95862991	G	C	95862991	2	2	101	1	0	0	0	0	0	0	0	1	55	1190	42	4		4	ABCC4	13	95862991	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		95862991	19306887	31	5002										
AHNAK2	113146	broad.mit.edu	37	chr14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	tattttgtaagtgtaacatcCtcacagggagagagaataga	10	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.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		Somatic				AHNAK2_ENST00000557457.1_Intron	p.E4788D	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	36	80	---	---	---	---	G	105407424	C	G	105407424	3	3	101	1	0	0	0	0	1	0	0	0	415	680	24	4	3027	4	AHNAK2	14	105407424	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		105407424	1942116	32	5003										
SEC14L5	9717	broad.mit.edu	37	chr16	5038194	5038194	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ttcgtgcagacaaacatcttGaactggaaggagaggacgct	12	8	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.chr16:5038194G>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			Somatic					p.L86L	NM_014692.1	NP_055507.1	WXS	Illumina GAIIx	Phase_I	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	18	35	---	---	---	---	A	5038194	G	A	5038194	2	1	101	1	0	0	0	0	0	0	0	1	13985	1281	45	2		2	SEC14L5	16	5038194	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		5038194	85316559	33	5004										
FHOD1	29109	broad.mit.edu	37	chr16	67264087	67264087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ctcactgctactgggacagaGgggttgctgggggcttcccc	15	12	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.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			Somatic					p.P1032P	NM_013241.2	NP_037373.2	WXS	Illumina GAIIx	Phase_I	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	53	103	---	---	---	---	A	67264087	G	A	67264087	2	1	101	1	0	0	0	0	0	0	0	1	5882	987	35	2		2	FHOD1	16	67264087	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	62225893	67264087	23090666	34	5005										
GGN	199720	broad.mit.edu	37	chr19	38876987	38876987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	gcttcctgtgcccctcgagaAacctctcccaaggggcgagc	11	16	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.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	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			Somatic				GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.V305V	NM_152657.3	NP_689870.3	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	G	38876987	A	G	38876987	2	3	101	1	0	0	0	0	0	0	0	1	6358	1	1	2		2	GGN	19	38876987	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		38876987	20251996	35	5006										
NOVA2	4858	broad.mit.edu	37	chr19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	2	1	0.861968549796156	0	0.976897689768977	0.4	1	0	ggctctgtcggggttcatcgTggtttggggttgaaggatgt	18	5	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.chr19:46457064T>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		Somatic					p.T124S	NM_002516.2	NP_002507.1	WXS	Illumina GAIIx	Phase_I	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	61	144	---	---	---	---	A	46457064	T	A	46457064	3	1	101	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	36	5007										
ANXA4	307	broad.mit.edu	37	chr2	70045734	70045734	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	tttgttattgtctgcagtgtTtgatgaatacaaaaggatat	9	3	1	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.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		Somatic				ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C	p.F211C	NM_001153.3	NP_001144.1	WXS	Illumina GAIIx	Phase_I	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	6	76	---	---	---	---	G	70045734	T	G	70045734	3	3	102	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	5008										
UGT1A8	54658	broad.mit.edu	37	chr2	234527191	234527191	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	gtggtatcaactgccatcagGgaaagccattgcctatggta	11	9	2	0			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)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(838-840)Gga>Tga			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						192	187	188					2																	234527191		2203	4299	6502	SO:0001587	stop_gained	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	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*		Somatic					p.G280*	NM_019076.4	NP_061949.3	WXS	Illumina GAIIx	Phase_I	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	901	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|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	13	270	---	---	---	---	T	234527191	G	T	234527191	4	4	102	1	0	0	0	0	0	1	0	0	16948	1233	43	1	840	1	UGT1A8	2	234527191	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	164481457	234527191	8672182	2	5009										
SLC6A20	54716	broad.mit.edu	37	chr3	45812921	45812921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	atctgggtggctgcattgatCcaggccttggggttggccag	16	9	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.chr3:45812921C>A	ENST00000358525.4	-	6	838	c.723G>T	c.(721-723)tgG>tgT	p.W241C	SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C|SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C	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		Somatic				SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C	p.W241C	NM_020208.3	NP_064593.1	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	A	45812921	C	A	45812921	3	1	102	1	0	0	0	0	1	0	0	0	14684	856	30	3	1079	3	SLC6A20	3	45812921	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		45812921	152209509	3	5010										
RBM6	10180	broad.mit.edu	37	chr3	50005401	50005401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	ttcaggggccggggcacttaTgatttagattttagaggccg	14	7	1	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.chr3:50005401T>C	ENST00000266022.4	+	3	802	c.543T>C	c.(541-543)taT>taC	p.Y181Y	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_Silent_p.Y49Y|RBM6_ENST00000441115.1_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			Somatic				RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron	p.Y49Y			WXS	Illumina GAIIx	Phase_I	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	6	53	---	---	---	---	C	50005401	T	C	50005401	2	2	102	1	0	0	0	0	0	0	0	1	13144	1471	51	2		2	RBM6	3	50005401	Silent	SNP	T	TCGA-EJ-A46D-01A-21D-A257-08	4192480	50005401	148017029	4	5011										
WDFY3	23001	broad.mit.edu	37	chr4	85758212	85758212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	atttaaccagggtggaaggcActgacattgttgtcatgcag	12	7	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.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		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A	p.V149A			WXS	Illumina GAIIx	Phase_I	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	6	45	---	---	---	---	G	85758212	A	G	85758212	3	3	102	1	0	0	0	0	1	0	0	0	17267	159	6	2	10425	2	WDFY3	4	85758212	Missense_Mutation	SNP	A	TCGA-EJ-A46D-01A-21D-A257-08		85758212	105396064	5	5012										
COQ3	51805	broad.mit.edu	37	chr6	99817564	99817564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	cctttaaaacaaactcagcaGaggctgggtgttcctggacc	10	11	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.chr6:99817564G>A	ENST00000254759.3	-	7	1046	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	COQ3_ENST00000369242.1_Missense_Mutation_p.S113F|COQ3_ENST00000369240.1_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		Somatic				COQ3_ENST00000369240.1_Missense_Mutation_p.S113F|COQ3_ENST00000369242.1_Missense_Mutation_p.S113F	p.S341F	NM_017421.3	NP_059117.3	WXS	Illumina GAIIx	Phase_I	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	21	151	---	---	---	---	A	99817564	G	A	99817564	3	1	102	1	0	0	0	0	1	0	0	0	3746	942	33	2	91	2	COQ3	6	99817564	Missense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08		99817564	71297503	6	5013										
PEX3	8504	broad.mit.edu	37	chr6	143780272	143780272	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	agaaaatcagagaaatacagGaaagggaggctgcagaatac	12	5	1	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.chr6:143780272G>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*		Somatic					p.E42*	NM_003630.2	NP_003621.1	WXS	Illumina GAIIx	Phase_I	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	6	62	---	---	---	---	T	143780272	G	T	143780272	4	4	102	1	0	0	0	0	0	1	0	0	11747	1175	41	3	130	3	PEX3	6	143780272	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	43962708	143780272	27334795	7	5014										
ABTB2	25841	broad.mit.edu	37	chr11	34186310	34186310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	cccatgccgtgggcctccagCatgctgaggagggggtcggc	17	13	0	1	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		Somatic				ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	p.M637I	NM_145804.2	NP_665803.2	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	A	34186310	C	A	34186310	3	1	102	1	0	0	0	0	1	0	0	0	103	710	25	3	1202	3	ABTB2	11	34186310	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		34186310	100820206	8	5015										
PRX	57716	broad.mit.edu	37	chr19	40901385	40901385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	gagatggcaaatttggatacCttcagcttggtagctcgccc	11	10	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.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			Somatic				PRX_ENST00000291825.7_3'UTR	p.K958K	NM_181882.2	NP_870998.2	WXS	Illumina GAIIx	Phase_I	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	13	130	---	---	---	---	T	40901385	C	T	40901385	2	4	102	1	0	0	0	0	0	0	0	1	12642	680	24	2		2	PRX	19	40901385	Silent	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		40901385	18227598	9	5016										
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864115	31864115	+	Frame_Shift_Del	DEL	C	C	-													0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	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)ggafs		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		Somatic					p.G54fs	NM_181609.3	NP_853640.1	WXS	Illumina GAIIx	Phase_I	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	102	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	10	5017										
SERPIND1	3053	broad.mit.edu	37	chr22	21141285	21141285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0909090909090909	1	1	2.78666666666667	0	4.18	1	1	0	gtcgaccgcccctttcttttCctcatctacgagcatcgcac	6	17	3	0			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_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000255882.6_Intron	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		Somatic				SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	p.F477L	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	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	11	78	---	---	---	---	G	21141285	C	G	21141285	3	3	102	1	0	0	0	0	1	0	0	0	14110	854	30	4	1445	4	SERPIND1	22	21141285	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		21141285	30163281	11	5018										
UBXN10	127733	broad.mit.edu	37	chr1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaagacgagacgggcaccAtgaagacaagtgaagaagat	12	8	0	7			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		Somatic					p.M156V	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	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	17	21	---	---	---	---	G	20517520	A	G	20517520	3	3	103	1	0	0	0	0	1	0	0	0	16909	217	8	2	468	2	UBXN10	1	20517520	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		20517520	228733101	1	5019										
VANGL2	57216	broad.mit.edu	37	chr1	160394001	160394001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taccttcggaccaccaagcaGcagccctaccacaccatgga	7	17	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.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			Somatic					p.Q411Q	NM_020335.2	NP_065068.1	WXS	Illumina GAIIx	Phase_I	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	20	39	---	---	---	---	A	160394001	G	A	160394001	2	1	103	1	0	0	0	0	0	0	0	1	17117	962	34	2		2	VANGL2	1	160394001	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	139876481	160394001	88856620	2	5020										
CNTN2	6900	broad.mit.edu	37	chr1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctggcctccaacccagtgGgcaccgttgtcagcagggag	14	14	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.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		Somatic					p.G118C	NM_005076.3	NP_005067.1	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	T	205027445	G	T	205027445	3	4	103	1	0	0	0	0	1	0	0	0	3641	1232	43	1	362	1	CNTN2	1	205027445	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	44633444	205027445	44223176	3	5021										
USH2A	7399	broad.mit.edu	37	chr1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaagtaatccttgcacagcTcacagttccttcctgcatca	5	13	2	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.chr1:216462740T>A	ENST00000307340.3	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000366943.2_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_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)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V	p.E618V			WXS	Illumina GAIIx	Phase_I	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	6	45	---	---	---	---	A	216462740	T	A	216462740	3	1	103	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	4	5022										
TTN	7273	broad.mit.edu	37	chr2	179399093	179399093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttaatgttctgataacTttagtactgactctttctat	5	6	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.chr2:179399093T>C	ENST00000591111.1	-	308	97550	c.97326A>G	c.(97324-97326)aaA>aaG	p.K32442K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN_ENST00000589042.1_Silent_p.K34083K|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_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			Somatic				TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.K34083K	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	21	18	---	---	---	---	C	179399093	T	C	179399093	2	2	103	1	0	0	0	0	0	0	0	1	16732	1606	56	2		2	TTN	2	179399093	Silent	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08		179399093	63800280	5	5023										
IRS1	3667	broad.mit.edu	37	chr2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggacatggtgccttcgccgTcactggaggcgcggacacgg	17	12	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.chr2:227662463T>A	ENST00000305123.5	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	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)																										ENST00000305123.5																			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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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)				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	28	162	---	---	---	---	A	227662463	T	A	227662463	3	1	103	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	48263370	227662463	15536910	6	5024										
VHL	7428	broad.mit.edu	37	chr3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgctctacgaagatctggaaGaccacccaaatgtgcagaaa	9	11	2	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.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	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		Somatic				VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	p.D190Y	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	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	7	17	---	---	---	---	T	10191575	G	T	10191575	3	4	103	1	0	0	0	0	1	0	0	0	17159	942	33	3	578	3	VHL	3	10191575	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		10191575	187830855	7	5025										
NUP210	23225	broad.mit.edu	37	chr3	13393391	13393391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcttaccatggcgacaccCctggcctcctggtaggccac	10	16	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.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			Somatic					p.R941R	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	T	13393391	C	T	13393391	2	4	103	1	0	0	0	0	0	0	0	1	10760	622	22	2		2	NUP210	3	13393391	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	3201816	13393391	184629039	8	5026										
TRAIP	10293	broad.mit.edu	37	chr3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcatctcggccttgcccaAggcctgctgcagagatacca	10	15	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.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'Flank	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		Somatic				TRAIP_ENST00000469027.1_Intron	p.L125M	NM_005879.2	NP_005870.2	WXS	Illumina GAIIx	Phase_I	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	30	64	---	---	---	---	T	49881269	A	T	49881269	3	4	103	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	36487878	49881269	148141161	9	5027										
IFT122	55764	broad.mit.edu	37	chr3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgacatcgcatttaagcctGatggaactcaactgattttg	8	8	1	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.chr3:129168739G>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_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000296266.3_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y	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		Somatic				IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y	p.D23Y	NM_052985.2	NP_443711.2	WXS	Illumina GAIIx	Phase_I	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	5	75	---	---	---	---	T	129168739	G	T	129168739	3	4	103	1	0	0	0	0	1	0	0	0	7555	1290	45	3	73	3	IFT122	3	129168739	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	79287470	129168739	68853691	10	5028										
COL6A6	131873	broad.mit.edu	37	chr3	130284217	130284217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccgagattcagaagacaaCgtgacaaaagcagctgttaa	9	9	1	4	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			Somatic				COL6A6_ENST00000453409.2_Silent_p.N347N	p.N347N	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	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	14	165	---	---	---	---	T	130284217	C	T	130284217	2	4	103	1	0	0	0	0	0	0	0	1	3703	535	19	2		2	COL6A6	3	130284217	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	1115478	130284217	67738213	11	5029										
MSL2	55167	broad.mit.edu	37	chr3	135913890	135913890	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaaacgccttggggtctccGgggtcgtagttgagcactag	15	9	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.chr3:135913890G>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			Somatic					p.P22P	NM_018133.3	NP_060603.2	WXS	Illumina GAIIx	Phase_I	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	70	131	---	---	---	---	T	135913890	G	T	135913890	2	4	103	1	0	0	0	0	0	0	0	1	9878	1103	39	1		1	MSL2	3	135913890	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	5629673	135913890	62108540	12	5030										
LEKR1	389170	broad.mit.edu	37	chr3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgattcagtttcagaaaaCttgaggaaggaaatggaaca	10	4	2	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		Somatic				LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K	p.N220K			WXS	Illumina GAIIx	Phase_I	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	11	13	---	---	---	---	G	156746095	C	G	156746095	3	3	103	1	0	0	0	0	1	0	0	0	8717	564	20	4	1614	4	LEKR1	3	156746095	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	20832205	156746095	41276335	13	5031										
LRRC15	131578	broad.mit.edu	37	chr3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccggaggacctggaggttgCccaggtgctggaagaccctg	17	11	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.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_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		Somatic				LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	p.G197D	NM_130830.4	NP_570843.2	WXS	Illumina GAIIx	Phase_I	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	68	112	---	---	---	---	T	194081183	C	T	194081183	3	4	103	1	0	0	0	0	1	0	0	0	8970	739	26	2	1159	2	LRRC15	3	194081183	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	37335088	194081183	3941247	14	5032										
ATP10D	57205	broad.mit.edu	37	chr4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccagtaggatagaatgtGaaagcccaaacaatgacctc	8	9	0	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*		Somatic				ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	p.E246*	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	T	47527619	G	T	47527619	4	4	103	1	0	0	0	0	0	1	0	0	1118	1291	45	3	750	3	ATP10D	4	47527619	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		47527619	143626657	15	5033										
NNT	23530	broad.mit.edu	37	chr5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccgaaaaatattcctcaAggtgccccagtaaaacagaa	6	11	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.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	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		Somatic				NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	p.Q446H	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	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	4	51	---	---	---	---	C	43645506	A	C	43645506	3	2	103	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	16	5034										
CKMT2	1160	broad.mit.edu	37	chr5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaagaacgaggctgggagtTcatgtggaatgagcgcctag	15	8	1	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_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_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		Somatic				CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	p.F305S	NM_001825.2	NP_001816.2	WXS	Illumina GAIIx	Phase_I	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	48	59	---	---	---	---	C	80554973	T	C	80554973	3	2	103	1	0	0	0	0	1	0	0	0	3451	1783	62	2	940	2	CKMT2	5	80554973	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	36909467	80554973	100360287	17	5035										
NUDT12	83594	broad.mit.edu	37	chr5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)atgfs		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		Somatic				NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	p.M392fs	NM_031438.2	NP_113626.1	WXS	Illumina GAIIx	Phase_I	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	103	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	18	5036										
MYLIP	29116	broad.mit.edu	37	chr6	16146916	16146916	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcccgtctgcaggtcgcgTgtggagcatgtccagcacgt	14	12	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.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			Somatic				MYLIP_ENST00000356840.3_Silent_p.R424R	p.R243R			WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	A	16146916	T	A	16146916	2	1	103	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	19	5037										
GPR110	266977	broad.mit.edu	37	chr6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttggaaacgggtagaatgTtccccagagtcaacgaggcc	12	9	1	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.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	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		Somatic				GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	p.N489I	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	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	12	17	---	---	---	---	A	46977705	T	A	46977705	3	1	103	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	30830789	46977705	124137362	20	5038										
SESN1	27244	broad.mit.edu	37	chr6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacgataatgtaggggtaAcggcccatccatttgcagta	12	8	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.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		Somatic				SESN1_ENST00000302071.2_Missense_Mutation_p.L46V|SESN1_ENST00000356644.7_Missense_Mutation_p.L112V	p.L171V	NM_014454.2	NP_055269.1	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	C	109322526	A	C	109322526	3	2	103	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	21	5039										
KPNA5	3841	broad.mit.edu	37	chr6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atattgtgactggtgatgatAttcaaacacaggtgagttca	10	5	2	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.chr6:117045527A>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		Somatic				KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V	p.I330V			WXS	Illumina GAIIx	Phase_I	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	12	8	---	---	---	---	G	117045527	A	G	117045527	3	3	103	1	0	0	0	0	1	0	0	0	8433	449	16	2	1026	2	KPNA5	6	117045527	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	7723001	117045527	54069540	22	5040										
EPB41L2	2037	broad.mit.edu	37	chr6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgatcaatatctccatctcCtgtgatcacaatgcgtttct	5	11	5	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_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R	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		Somatic				EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R	p.G962R	NM_001431.3	NP_001422.1	WXS	Illumina GAIIx	Phase_I	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	7	23	---	---	---	---	T	131184804	C	T	131184804	3	4	103	1	0	0	0	0	1	0	0	0	5153	690	24	2	141	2	EPB41L2	6	131184804	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	14139277	131184804	39930263	23	5041										
CHRNA6	8973	broad.mit.edu	37	chr8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcttgtggcaagctcatttGatttgtgacaatggaagcat	11	6	1	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.chr8:42611140G>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*		Somatic				CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	p.S401*	NM_004198.3	NP_004189.1	WXS	Illumina GAIIx	Phase_I	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	21	26	---	---	---	---	T	42611140	G	T	42611140	4	4	103	1	0	0	0	0	0	1	0	0	3387	1294	45	3	290	3	CHRNA6	8	42611140	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		42611140	103752882	24	5042										
PRKDC	5591	broad.mit.edu	37	chr8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatcagagcgtgagagctggCgaagtgggagcggagcgcca	18	8	1	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.chr8:48691160C>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		Somatic				PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T|PRKDC_ENST00000523565.1_5'UTR	p.A3904T	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	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	7	11	---	---	---	---	T	48691160	C	T	48691160	3	4	103	1	0	0	0	0	1	0	0	0	12521	768	27	2	689	2	PRKDC	8	48691160	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6080020	48691160	97672862	25	5043										
ZFHX4	79776	broad.mit.edu	37	chr8	77617577	77617577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctagtttagtagtgaacacCccaattacctctgtctccct	5	13	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.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000455469.2_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron	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)	Somatic				ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	p.T418T	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	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	9	20	---	---	---	---	A	77617577	C	A	77617577	2	1	103	1	0	0	0	0	0	0	0	1	17632	610	22	1		1	ZFHX4	8	77617577	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	28926417	77617577	68746445	26	5044										
OR1K1	392392	broad.mit.edu	37	chr9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	ggactcattgtggctgccatCcaggccagtccagcccttca	10	15	2	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.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	392392				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		Somatic					p.I50M	NM_080859.1	NP_543135.1	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	G	125562551	C	G	125562551	3	3	103	1	0	0	0	0	1	0	0	0	10962	845	30	4	152	4	OR1K1	9	125562551	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		125562551	15650880	27	5045										
MMP26	56547	broad.mit.edu	37	chr11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccgttccagtgccccctgCtgcagaccataaaggatggg	12	14	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.chr11:5009509C>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		Somatic				MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR	p.A23D			WXS	Illumina GAIIx	Phase_I	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	34	45	---	---	---	---	A	5009509	C	A	5009509	3	1	103	1	0	0	0	0	1	0	0	0	9663	797	28	3	70	3	MMP26	11	5009509	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		5009509	129997007	28	5046										
OR52A5	390054	broad.mit.edu	37	chr11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatatgaatatatggtggtAtgtgtgaaccaaacctgtgt	12	4	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.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		Somatic					p.I271T	NM_001005160.2	NP_001005160.1	WXS	Illumina GAIIx	Phase_I	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	10	36	---	---	---	---	G	5153061	A	G	5153061	3	3	103	1	0	0	0	0	1	0	0	0	11110	449	16	2	141	2	OR52A5	11	5153061	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	143552	5153061	129853455	29	5047										
OR4C13	283092	broad.mit.edu	37	chr11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctttttcctggcctatctctCctttattgatgcctgctatt	5	12	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.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		Somatic					p.S65F	NM_001001955.2	NP_001001955.2	WXS	Illumina GAIIx	Phase_I	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	15	126	---	---	---	---	T	49974168	C	T	49974168	3	4	103	1	0	0	0	0	1	0	0	0	11047	855	30	2	196	2	OR4C13	11	49974168	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	44821107	49974168	85032348	30	5048										
SSH3	54961	broad.mit.edu	37	chr11	67074410	67074410	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggatgagacggtcctcctGggcgtggatttccctgacag	14	11	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.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000308298.7_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L147L	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			Somatic				SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Silent_p.L147L	p.L147L	NM_017857.3	NP_060327.3	WXS	Illumina GAIIx	Phase_I	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	20	67	---	---	---	---	T	67074410	G	T	67074410	2	4	103	1	0	0	0	0	0	0	0	1	15185	1335	47	1		1	SSH3	11	67074410	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	17100242	67074410	67932106	31	5049										
LRIG3	121227	broad.mit.edu	37	chr12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaatcagcaatgtagctgActctgttgttcccaatgtgc	8	11	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.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		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	p.V347G	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	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	18	32	---	---	---	---	C	59281622	A	C	59281622	3	2	103	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		59281622	74570273	32	5050										
FREM2	341640	broad.mit.edu	37	chr13	39451252	39451253	+	Splice_Site	DNP	AG	AG	GT													0	0	1	0	0	0	1	1	0	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.chr13:39451252_39451253AG>GT	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)		CTTTGGTTTTAGGTCAGTGATC	0.436																																						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																																				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|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	Exception_encountered	13.37:g.39451252_39451253delinsGT			Somatic						NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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																																																																																				0.436	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	Intron	6	71	6	71	---	---	---	---	GT	39451253	AG	GT	39451252	5	3	103	1	0	0	0	0	0	0	1	0	6045	434	15	2	8625	2	FREM2	13	39451252	Splice_Site	DNP	AG	TCGA-EJ-A46G-01A-31D-A26M-08		39451252	75718626	33	5051										
ZNF668	79759	broad.mit.edu	37	chr16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcactgggtgcaggggaaggGccggagctccgggtgtgagc	21	9	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.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T	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		Somatic				ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T	p.P543T	NM_001172668.1	NP_001166139	WXS	Illumina GAIIx	Phase_I	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	44	39	---	---	---	---	T	31072622	G	T	31072622	3	4	103	1	0	0	0	0	1	0	0	0	18072	1203	42	3	236	3	ZNF668	16	31072622	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		31072622	59282131	34	5052										
CDK12	51755	broad.mit.edu	37	chr17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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)ctgfs		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)	Somatic				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	103	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	35	5053										
CCDC94	55702	broad.mit.edu	37	chr19	4267640	4267641	+	Missense_Mutation	DNP	AG	AG	GT													0	0	1	0	0	0	1	1	0	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.chr19:4267640_4267641AG>GT	ENST00000262962.7	+	7	796_797	c.728_729AG>GT	c.(727-729)aAG>aGT	p.K243S		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)		CCCAAGAGGAAGGTGGAGGTCT	0.678											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|c.(727-729)aaG>aaT		coiled-coil domain containing 94																																				SO:0001583	missense	55702							g.chr19:4267640A>G|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		Exception_encountered	19.37:g.4267640_4267641delinsGT	ENSP00000262962:p.Lys243Ser		Somatic	OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.K243R|p.K243N	NM_018074.4	NP_060544.2	WXS	Illumina GAIIx	Phase_I	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|797	+			243					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.728A>G|c.729G>T	CCDS12124.1																																																																																				0.678	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		3	36	3	36	---	---	---	---	GT	4267641	AG	GT	4267640	3	3	103	1	0	0	0	0	1	0	0	0	2873	72	3	2	754	2	CCDC94	19	4267640	Missense_Mutation	DNP	AG	TCGA-EJ-A46G-01A-31D-A26M-08		4267640	54861343	36	5054										
KEAP1	9817	broad.mit.edu	37	chr19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacctgcaggtccgccaacCggagccaggtgccgtcactg	13	16	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		Somatic				KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	p.R354L	NM_203500.1	NP_987096.1	WXS	Illumina GAIIx	Phase_I	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	3	9	---	---	---	---	A	10602517	C	A	10602517	3	1	103	1	0	0	0	0	1	0	0	0	8141	652	23	1	829	1	KEAP1	19	10602517	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6334877	10602517	48526466	37	5055										
DIDO1	11083	broad.mit.edu	37	chr20	61525242	61525242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggccggacactgtgacggtGgtgaccaccccgctcccaca	12	17	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.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			Somatic				DIDO1_ENST00000395343.1_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T	p.T959T	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	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	21	31	---	---	---	---	A	61525242	G	A	61525242	2	1	103	1	0	0	0	0	0	0	0	1	4522	1335	47	2		2	DIDO1	20	61525242	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		61525242	1500278	38	5056										
SF3A1	10291	broad.mit.edu	37	chr22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcctcctcatcagactcgaCctccatctcaacttcctcac	2	19	4	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																																						ENST00000215793.8																			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.(979-981)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		Somatic				SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	p.V327F	NM_005877.4	NP_005868.1	WXS	Illumina GAIIx	Phase_I	Q15459	SF3A1_HUMAN			7	1133	-								E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.979G>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	5	84	---	---	---	---	A	30737773	C	A	30737773	3	1	103	1	0	0	0	0	1	0	0	0	14146	507	18	3	1442	3	SF3A1	22	30737773	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		30737773	20566793	39	5057										
SPANXN1	494118	broad.mit.edu	37	chrX	144337212	144337212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaggagacaccaaacaggGacttagcccccgaaccgagt	11	13	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.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		Somatic					p.D33Y	NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	T	144337212	G	T	144337212	3	4	103	1	0	0	0	0	1	0	0	0	14990	1174	41	3	103	3	SPANXN1	23	144337212	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		144337212	10933348	40	5058										
ATP2B2	491	broad.mit.edu	37	chr3	10413688	10413688	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgtggcattgcccatggtCtcacaggcatccaggtggcg	14	12	1	0			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_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D			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		Somatic				ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D	p.E443D			WXS	Illumina GAIIx	Phase_I	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	6	67	---	---	---	---	A	10413688	C	A	10413688	3	1	104	1	0	0	0	0	1	0	0	0	1140	912	32	3	2315	3	ATP2B2	3	10413688	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		10413688	187608742	1	5059										
XPO4	64328	broad.mit.edu	37	chr13	21417934	21417934	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaactcttttgcagttaccaTggaattccatgctcaatcca	5	11	2	0			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		Somatic				XPO4_ENST00000255305.6_Missense_Mutation_p.H183L	p.H183L	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	A	21417934	T	A	21417934	3	1	104	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	2	5060										
RYR3	6263	broad.mit.edu	37	chr15	33941374	33941374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgtacagtgaaaagtttgaCctgaataaaaactgcacagt	8	6	0	3			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			Somatic				RYR3_ENST00000415757.3_Silent_p.D1360D	p.D1360D	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	6	102	---	---	---	---	T	33941374	C	T	33941374	2	4	104	1	0	0	0	0	0	0	0	1	13770	506	18	2		2	RYR3	15	33941374	Silent	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		33941374	68590018	3	5061										
DTNA	1837	broad.mit.edu	37	chr18	32418795	32418795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caacatgctccggaacaaccCctcatggttagtgcaggttt	9	12	1	0			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_ENST00000269192.7_Missense_Mutation_p.P129H|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000444659.1_Missense_Mutation_p.P420H|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000599844.1_Intron			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		Somatic				DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H	p.P420H	NM_001390.4	NP_001381.2	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	A	32418795	C	A	32418795	3	1	104	1	0	0	0	0	1	0	0	0	4788	623	22	1	1340	1	DTNA	18	32418795	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		32418795	45658453	4	5062										
ZNF331	55422	broad.mit.edu	37	chr19	54080131	54080131	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgtcaatcagatgatcatcaAttatgtcaaaagacctgcta	6	8	5	3			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_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511154.1_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		Somatic				ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000411977.2_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	WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	T	54080131	A	T	54080131	3	4	104	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		54080131	5048852	5	5063										
ADORA3	140	broad.mit.edu	37	chr1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	gggatggcagaccacacaagCtttgaggatcaaaaggtagg	14	7	1	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_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|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		Somatic				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.A299S	NM_000677.3	NP_000668.1	WXS	Illumina GAIIx	Phase_I	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	23	35	---	---	---	---	A	112042634	C	A	112042634	3	1	105	1	0	0	0	0	1	0	0	0	329	797	28	3	779	3	ADORA3	1	112042634	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		112042634	137207987	1	5064										
TXNIP	10628	broad.mit.edu	37	chr1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T													0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	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		Somatic				TXNIP_ENST00000475171.1_3'UTR	p.L386F	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	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	15	24	---	---	---	---	T	145441198	C	T	145441198	3	4	105	1	0	0	0	0	1	0	0	0	16800	681	24	2	1186	2	TXNIP	1	145441198	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	33398564	145441198	103809423	2	5065	9	2								
TXNIP	10628	broad.mit.edu	37	chr1	145441200	145441200	+	Silent	SNP	C	C	T													0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	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			Somatic				TXNIP_ENST00000475171.1_3'UTR	p.L386L	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	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	14	24	---	---	---	---	T	145441200	C	T	145441200	2	4	105	1	0	0	0	0	0	0	0	1	16800	813	29	2		2	TXNIP	1	145441200	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	2	145441200	103809421	3	5066	9	2								
OR10J3	441911	broad.mit.edu	37	chr1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	cataggagataaagaccaggCccataggtagaacaaggaca	11	8	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.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		Somatic					p.G213A	NM_001004467.1	NP_001004467.1	WXS	Illumina GAIIx	Phase_I	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	44	81	---	---	---	---	G	159283812	C	G	159283812	3	3	105	1	0	0	0	0	1	0	0	0	10911	739	26	4	353	4	OR10J3	1	159283812	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	13842612	159283812	89966809	4	5067										
GPA33	10223	broad.mit.edu	37	chr1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	agcagtagatgatgatgccaAtgataatgagggctgcaacc	12	7	0	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.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		Somatic				GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.I252T	NM_005814.1	NP_005805.1	WXS	Illumina GAIIx	Phase_I	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	34	74	---	---	---	---	G	167024285	A	G	167024285	3	3	105	1	0	0	0	0	1	0	0	0	6586	101	4	2	212	2	GPA33	1	167024285	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	7740473	167024285	82226336	5	5068										
THADA	63892	broad.mit.edu	37	chr2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ggtattaggaatgtgatctaTcataacaaatgggaccaagg	11	5	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.chr2:43625211T>C	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000485353.1_5'UTR	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		Somatic				THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron	p.I1376V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	WXS	Illumina GAIIx	Phase_I	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	32	75	---	---	---	---	C	43625211	T	C	43625211	3	2	105	1	0	0	0	0	1	0	0	0	15837	1435	50	2	1775	2	THADA	2	43625211	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08		43625211	199574162	6	5069										
SLC4A10	57282	broad.mit.edu	37	chr2	162804174	162804174	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	tggtctgtgatcctgttcttTtccacagttactctgtcagc	8	11	4	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.chr2:162804174T>C	ENST00000446997.1	+	17	2295	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000375514.5_Silent_p.F715F|SLC4A10_ENST00000421911.1_Silent_p.F734F	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			Somatic				SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F	p.F715F	NM_001178016.1	NP_001171487.1	WXS	Illumina GAIIx	Phase_I	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	31	88	---	---	---	---	C	162804174	T	C	162804174	2	2	105	1	0	0	0	0	0	0	0	1	14651	1838	64	2		2	SLC4A10	2	162804174	Silent	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	119178963	162804174	80395199	7	5070										
TMEM45A	55076	broad.mit.edu	37	chr3	100287665	100287665	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	gctttttgttctaaattacaGattggatttgtcctgtatcc	7	7	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.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			Somatic				TMEM45A_ENST00000323523.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	13	47	---	---	---	---	C	100287665	G	C	100287665	5	2	105	1	0	0	0	0	0	0	1	0	16166	956	33	4	602	4	TMEM45A	3	100287665	Splice_Site	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		100287665	97734765	8	5071										
DIRC2	84925	broad.mit.edu	37	chr3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	tatcggagaagcgtttgtagAttattaaggtaaatatactg	10	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.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		Somatic					p.R275S	NM_032839.2	NP_116228.1	WXS	Illumina GAIIx	Phase_I	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	30	55	---	---	---	---	C	122552285	A	C	122552285	3	2	105	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	9	5072										
SYNE1	23345	broad.mit.edu	37	chr6	152647580	152647580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	aggctgtggagctcctccagGttactatggaactgatcctc	11	11	0	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.chr6:152647580G>A	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000423061.1_Silent_p.N4977N|SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N	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)	Somatic				SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000423061.1_Silent_p.N4977N	p.N5048N	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	19	42	---	---	---	---	A	152647580	G	A	152647580	2	1	105	1	0	0	0	0	0	0	0	1	15442	1252	44	2		2	SYNE1	6	152647580	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		152647580	18467487	10	5073										
SYNJ2	8871	broad.mit.edu	37	chr6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	caaaaccaccaatgcccaggAggcagaagcagcaatccggt	10	13	0	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.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		Somatic				SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V	p.E1175V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	T	158510938	A	T	158510938	3	4	105	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	11	5074										
RELN	5649	broad.mit.edu	37	chr7	103341383	103341383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ttctctagctgaatccagtcCgcagagttattcttggcata	8	10	2	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.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000424685.2_Silent_p.A292A|RELN_ENST00000343529.5_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			Somatic				RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	p.A292A	NM_005045.3	NP_005036.2	WXS	Illumina GAIIx	Phase_I	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	12	58	---	---	---	---	T	103341383	C	T	103341383	2	4	105	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	12	5075										
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	actttcccttgtagactgttCcaaatgatccagatccaatt	5	11	0	3	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		Somatic					p.G469A	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	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	23	84	---	---	---	---	G	140481402	C	G	140481402	3	3	105	1	0	0	0	0	1	0	0	0	1496	855	30	4	926	4	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	37140019	140481402	18657261	13	5076										
LRRC67	286187	broad.mit.edu	37	chr8	67900709	67900709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	caggatttccatttagatcaAttttccacagcttcatcaac	4	11	3	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.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		Somatic				PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T	p.I199T			WXS	Illumina GAIIx	Phase_I	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	5	9	---	---	---	---	G	67900709	A	G	67900709	3	3	105	1	0	0	0	0	1	0	0	0	9019	101	4	2	94	2	LRRC67	8	67900709	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08		67900709	78463313	14	5077										
LRRC55	219527	broad.mit.edu	37	chr11	56949994	56949994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ggcctcatgcagctccgagaCctggacctcagttatggggg	14	12	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.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			Somatic					p.D209D	NM_001005210.2	NP_001005210.1	WXS	Illumina GAIIx	Phase_I	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	27	58	---	---	---	---	T	56949994	C	T	56949994	2	4	105	1	0	0	0	0	0	0	0	1	9011	506	18	2		2	LRRC55	11	56949994	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		56949994	78056522	15	5078										
PPP1CA	5499	broad.mit.edu	37	chr11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	cagtgaaggttttccacagtTtgatgttgtagcgtctcttg	11	7	1	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.chr11:67167115T>A	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I|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		Somatic				PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I	p.K147I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	WXS	Illumina GAIIx	Phase_I	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	5	31	---	---	---	---	A	67167115	T	A	67167115	3	1	105	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	16	5079										
PPP2R1B	5519	broad.mit.edu	37	chr11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ataaagtcaggtttacctttAtataaggcagaatttgattc	7	5	1	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.chr11:111625227A>C	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	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|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R	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		Somatic				PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R	p.I342R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	WXS	Illumina GAIIx	Phase_I	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	11	18	---	---	---	---	C	111625227	A	C	111625227	3	2	105	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	17	5080										
SLC4A8	9498	broad.mit.edu	37	chr12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	atggattattaatcccattgGccccaatccctggtggactg	9	11	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.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		Somatic				SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	p.G776V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	WXS	Illumina GAIIx	Phase_I	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	27	73	---	---	---	---	T	51882523	G	T	51882523	3	4	105	1	0	0	0	0	1	0	0	0	14659	1203	42	3	2397	3	SLC4A8	12	51882523	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		51882523	81969372	18	5081										
USP30	84749	broad.mit.edu	37	chr12	109523652	109523652	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	gccagcctgcaggaggtcctGtcctccagcgcctacctgct	11	17	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.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			Somatic				USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	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	5	34	---	---	---	---	T	109523652	G	T	109523652	2	4	105	1	0	0	0	0	0	0	0	1	17058	1364	48	3		3	USP30	12	109523652	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	57641129	109523652	24328243	19	5082										
PDS5B	23047	broad.mit.edu	37	chr13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-													0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	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)gatfs		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		Somatic					p.D66fs	NM_015032.3	NP_055847.1	WXS	Illumina GAIIx	Phase_I	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	105	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	20	5083										
RBM25	58517	broad.mit.edu	37	chr14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	caccccagagcattttagatGatgttgccatggtaagttag	10	8	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.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		Somatic				RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	p.D810N	NM_021239.2	NP_067062.1	WXS	Illumina GAIIx	Phase_I	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	19	50	---	---	---	---	A	73581030	G	A	73581030	3	1	105	1	0	0	0	0	1	0	0	0	13125	1290	45	2	2494	2	RBM25	14	73581030	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		73581030	33768510	21	5084										
HEATR3	55027	broad.mit.edu	37	chr16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	tgcttgaagttaccaccaaaGatccttcccttgtggtagca	8	11	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.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		Somatic				HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	p.D594Y	NM_182922.2	NP_891552.1	WXS	Illumina GAIIx	Phase_I	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	32	79	---	---	---	---	T	50136206	G	T	50136206	3	4	105	1	0	0	0	0	1	0	0	0	7029	942	33	3	1834	3	HEATR3	16	50136206	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		50136206	40218547	22	5085										
NUFIP2	57532	broad.mit.edu	37	chr17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ttcttggttttaattcctgcTttcccaaaggtgttggcctt	8	9	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.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		Somatic				NUFIP2_ENST00000579665.1_Intron	p.K146N	NM_020772.2	NP_065823.1	WXS	Illumina GAIIx	Phase_I	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	14	78	---	---	---	---	A	27614574	T	A	27614574	3	1	105	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	23	5086										
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	attcaggatggagaatttgaAttttgcccgaacttcactct	8	8	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.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	24	46	---	---	---	---	C	47696644	A	C	47696644	3	2	105	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	24	5087										
DSG1	1828	broad.mit.edu	37	chr18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	gagtaatccaaccaacttccGgcatgataggtagtctgagt	10	9	1	2	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|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|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		Somatic				RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.G932S	NM_001942.2	NP_001933.2	WXS	Illumina GAIIx	Phase_I	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	65	165	---	---	---	---	A	28934953	G	A	28934953	3	1	105	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	25	5088										
PPFIA3	8541	broad.mit.edu	37	chr19	49653359	49653359	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	cagacttctgggagttcccgGgcagacggcgtttcggtccg	15	12	1	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.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			Somatic				PPFIA3_ENST00000602351.1_Silent_p.R1174R	p.R1183R	NM_003660.2	NP_003651.1	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	C	49653359	G	C	49653359	2	2	105	1	0	0	0	0	0	0	0	1	12311	1219	43	4		4	PPFIA3	19	49653359	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		49653359	9475624	26	5089										
LAMA5	3911	broad.mit.edu	37	chr20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ccacgttcgagagcgccaggCgaaggaagccgtggccatgg	16	12	0	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		Somatic					p.R3134H	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	T	60887332	C	T	60887332	3	4	105	1	0	0	0	0	1	0	0	0	8609	768	27	2	1734	2	LAMA5	20	60887332	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		60887332	2138188	27	5090										
DSCAM	1826	broad.mit.edu	37	chr21	41551004	41551004	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	ggaaacatctttggttctctGagcagaatcccaggagtctt	10	9	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.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*		Somatic					p.Q933*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina GAIIx	Phase_I	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	14	35	---	---	---	---	A	41551004	G	A	41551004	4	1	105	1	0	0	0	0	0	1	0	0	4768	1299	45	2	3317	2	DSCAM	21	41551004	Nonsense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		41551004	6578891	28	5091										
SGSM3	57591	broad.mit.edu	37	chr22	40805725	40805725	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	agggcgtccgggacatgctgGtgaagcaccacctcttcagc	13	13	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.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			Somatic					p.V738L	NM_015705.4	NP_056520.2	WXS	Illumina GAIIx	Phase_I	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	35	92	---	---	---	---	C	40805725	G	C	40805725	1	2	105	0	1	0	0	0	0	0	0	0	14224	1261	44	4		4	SGSM3	22	40805725	IGR	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		40805725	10498841	29	5092										
CYBB	1536	broad.mit.edu	37	chrX	37660566	37660566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.76333333333333	1.41066666666667	2.0152380952381	1	1	0	tctgtgagaggttggtgcggTtttggcgatctcaacagaag	15	6	2	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.chrX:37660566T>A	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|TM4SF2_ENST00000465127.1_Intron|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		Somatic				CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|TM4SF2_ENST00000465127.1_Intron	p.F288I	NM_000397.3	NP_000388.2	WXS	Illumina GAIIx	Phase_I	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	61	42	---	---	---	---	A	37660566	T	A	37660566	3	1	105	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	30	5093										
NUP210L	91181	broad.mit.edu	37	chr1	154067630	154067630	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gccacttccacaggatttaaAgcctgatgatatttaaagaa	7	8	0	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.chr1:154067630A>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			Somatic				NUP210L_ENST00000271854.3_Silent_p.A656A	p.A656A	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	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	16	26	---	---	---	---	T	154067630	A	T	154067630	2	4	106	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		154067630	95182991	1	5094										
MAPKAPK2	9261	broad.mit.edu	37	chr1	206858781	206858781	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tacaaggtcaccagccaggtCctggggctgggcatcaacgg	14	12	2	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.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			Somatic				MAPKAPK2_ENST00000294981.4_Silent_p.V69V	p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	WXS	Illumina GAIIx	Phase_I	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	27	26	---	---	---	---	G	206858781	C	G	206858781	2	3	106	1	0	0	0	0	0	0	0	1	9289	842	30	4		4	MAPKAPK2	1	206858781	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	52791151	206858781	42391840	2	5095										
FCAMR	83953	broad.mit.edu	37	chr1	207133070	207133070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tgcaatagaaccagagccatAagcataaacagggccagcat	9	10	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.chr1:207133070A>G	ENST00000450945.2	-	6	748	c.725T>C	c.(724-726)tTa>tCa	p.L242S	FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.L242S			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		Somatic				FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S	p.L242S	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	WXS	Illumina GAIIx	Phase_I	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	105	107	---	---	---	---	G	207133070	A	G	207133070	3	3	106	1	0	0	0	0	1	0	0	0	5772	372	13	2	214	2	FCAMR	1	207133070	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	274289	207133070	42117551	3	5096										
ENAH	55740	broad.mit.edu	37	chr1	225699534	225699534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	aggtgtacttgttgaagaggCcttagaagttacaggctctg	13	6	1	3	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_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	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																																						ENST00000366844.3																			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		Somatic				ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	p.A484S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	WXS	Illumina GAIIx	Phase_I	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	10	1901	-	Breast(184;0.206)					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	5	17	---	---	---	---	A	225699534	C	A	225699534	3	1	106	1	0	0	0	0	1	0	0	0	5111	739	26	3	349	3	ENAH	1	225699534	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18566464	225699534	23551087	4	5097										
NRBP1	29959	broad.mit.edu	37	chr2	27662756	27662756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ttgcggcccactgcattgtgGgacaccaacgtgagtcgtct	12	12	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.chr2:27662756G>C	ENST00000233557.3	+	12	1859	c.1027G>C	c.(1027-1029)Gga>Cga	p.G343R	NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_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		Somatic				NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R	p.G343R			WXS	Illumina GAIIx	Phase_I	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	4	86	---	---	---	---	C	27662756	G	C	27662756	3	2	106	1	0	0	0	0	1	0	0	0	10642	1233	43	4	1065	4	NRBP1	2	27662756	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		27662756	215536617	5	5098										
LIPT1	51601	broad.mit.edu	37	chr2	99779276	99779276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ttagtataaatacttcctttCatgtgttatatgaacagtca	5	6	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.chr2:99779276C>T	ENST00000393473.2	+	3	1080	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y|LIPT1_ENST00000393477.3_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron	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		Somatic				LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y	p.H286Y	NM_145197.2	NP_660198.1	WXS	Illumina GAIIx	Phase_I	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	5	36	---	---	---	---	T	99779276	C	T	99779276	3	4	106	1	0	0	0	0	1	0	0	0	8829	826	29	2	858	2	LIPT1	2	99779276	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	72116520	99779276	143420097	6	5099										
GLI2	2736	broad.mit.edu	37	chr2	121748220	121748220	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	catgctcaccagcctcgccgAggagagcaagttcctgaaca	10	14	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.chr2:121748220A>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		Somatic				GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V	p.E1577V			WXS	Illumina GAIIx	Phase_I	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	25	48	---	---	---	---	T	121748220	A	T	121748220	3	4	106	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	7	5100										
NEB	4703	broad.mit.edu	37	chr2	152486104	152486104	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gccacgatggggatggcgtcActtcgcaagtcgtagccttt	13	11	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.chr2:152486104A>T	ENST00000172853.10	-	64	9198	c.9051T>A	c.(9049-9051)agT>agA	p.S3017R	NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R|NEB_ENST00000427231.2_Missense_Mutation_p.S3260R			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		Somatic				NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000397345.3_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R	p.S3260R	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	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	19	54	---	---	---	---	T	152486104	A	T	152486104	3	4	106	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	8	5101										
CCDC148	130940	broad.mit.edu	37	chr2	159166039	159166039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ttgcacaagcctcagtgagtGtcagcacagccttctgtata	9	11	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.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		Somatic				CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K|CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K	p.T339K	NM_138803.3	NP_620158.3	WXS	Illumina GAIIx	Phase_I	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	17	20	---	---	---	---	T	159166039	G	T	159166039	3	4	106	1	0	0	0	0	1	0	0	0	2782	1377	48	3	835	3	CCDC148	2	159166039	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6679935	159166039	84033334	9	5102										
BAZ2B	29994	broad.mit.edu	37	chr2	160181377	160181377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	atccataggcttcttaataaCtttcttataaccaggaacaa	4	9	2	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.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_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I	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		Somatic				BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I	p.V2100I	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	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	20	22	---	---	---	---	T	160181377	C	T	160181377	3	4	106	1	0	0	0	0	1	0	0	0	1332	565	20	2	216	2	BAZ2B	2	160181377	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	1015338	160181377	83017996	10	5103										
GALNT3	2591	broad.mit.edu	37	chr2	166621453	166621453	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gcagtattgcaggtgaagaaTagagcacactgtggacagtt	13	6	0	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.chr2:166621453T>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		Somatic					p.Y210S	NM_004482.3	NP_004473.2	WXS	Illumina GAIIx	Phase_I	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	31	62	---	---	---	---	G	166621453	T	G	166621453	3	3	106	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	11	5104										
TTN	7273	broad.mit.edu	37	chr2	179428723	179428723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tttccgcagtaactccagtaActttcagaggcccttcagga	8	12	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.chr2:179428723A>C	ENST00000591111.1	-	276	77437	c.77213T>G	c.(77212-77214)gTt>gGt	p.V25738G	TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN_ENST00000589042.1_Missense_Mutation_p.V27379G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_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		Somatic				TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|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.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V27379G	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	20	73	---	---	---	---	C	179428723	A	C	179428723	3	2	106	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	12	5105										
DNAH7	56171	broad.mit.edu	37	chr2	196756423	196756423	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	actgacagcaaggaccccatCagaccattcatgggacactg	9	13	2	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.chr2:196756423C>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		Somatic					p.D1668Y	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	A	196756423	C	A	196756423	3	1	106	1	0	0	0	0	1	0	0	0	4606	826	29	3	7212	3	DNAH7	2	196756423	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	17327700	196756423	46442950	13	5106										
LRRC3B	116135	broad.mit.edu	37	chr3	26751671	26751671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	atcatgagacagcccacaacGtgatctgtaaaacgtccgtg	9	11	2	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.chr3:26751671G>C	ENST00000396641.2	+	2	1100	c.508G>C	c.(508-510)Gtg>Ctg	p.V170L	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_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		Somatic				LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L|LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L	p.V170L	NM_052953.2	NP_443185.1	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	C	26751671	G	C	26751671	3	2	106	1	0	0	0	0	1	0	0	0	8996	1145	40	4	510	4	LRRC3B	3	26751671	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		26751671	171270759	14	5107										
CACNA2D3	55799	broad.mit.edu	37	chr3	54919587	54919587	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	agaagcgattaagctctaccTaaaaggcaaagaacctctgc	8	10	2	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.chr3:54919587T>A	ENST00000474759.1	+	23	2078	c.2030T>A	c.(2029-2031)cTa>cAa	p.L677Q	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q	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		Somatic				CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q	p.L677Q	NM_018398.2	NP_060868.2	WXS	Illumina GAIIx	Phase_I	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	10	12	---	---	---	---	A	54919587	T	A	54919587	3	1	106	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	15	5108										
CAMK2N2	94032	broad.mit.edu	37	chr3	183979033	183979033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	cctcggggtctgcgccgaagCggcccatcttgtcttcgctg	13	15	3	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.chr3:183979033C>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		Somatic				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.R14L	NM_033259.2	NP_150284.1	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	A	183979033	C	A	183979033	3	1	106	1	0	0	0	0	1	0	0	0	2604	768	27	3	206	3	CAMK2N2	3	183979033	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	129059446	183979033	14043397	16	5109										
GP5	2814	broad.mit.edu	37	chr3	194117793	194117793	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	cagccggggcagagccccaaAcacgtcgccaggcagggtct	14	15	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.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		Somatic				GP5_ENST00000323007.3_Missense_Mutation_p.F407V	p.F407V			WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	C	194117793	A	C	194117793	3	2	106	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	17	5110										
TACR3	6870	broad.mit.edu	37	chr4	104577479	104577479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	caatgggaaacagtacaccaGtataatgacgataatatggt	9	6	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.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			Somatic					p.L254L	NM_001059.2	NP_001050.1	WXS	Illumina GAIIx	Phase_I	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	24	46	---	---	---	---	A	104577479	G	A	104577479	2	1	106	1	0	0	0	0	0	0	0	1	15504	1020	36	2		2	TACR3	4	104577479	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		104577479	86576797	18	5111										
IL21	59067	broad.mit.edu	37	chr4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tttggagaagtgatttgaatCtttctaggaattctttgggt	11	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.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		Somatic					p.R139K	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	WXS	Illumina GAIIx	Phase_I	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	11	12	---	---	---	---	T	123534028	C	T	123534028	3	4	106	1	0	0	0	0	1	0	0	0	7670	913	32	2	80	2	IL21	4	123534028	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18956549	123534028	67620248	19	5112										
KLHL2	11275	broad.mit.edu	37	chr4	166238998	166238998	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gagtttgtgcagttaatggtCtgttatatgttgttggaggg	15	2	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.chr4:166238998C>G	ENST00000226725.6	+	14	1889	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000509028.1_3'UTR	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		Somatic				KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V	p.L544V	NM_007246.3	NP_009177.3	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	G	166238998	C	G	166238998	3	3	106	1	0	0	0	0	1	0	0	0	8374	912	32	4	1726	4	KLHL2	4	166238998	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	42704970	166238998	24915278	20	5113										
IQGAP2	10788	broad.mit.edu	37	chr5	76003079	76003079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	taatgaaaatgtttgataagGttaaagtgaatgtaaacctt	8	2	0	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.chr5:76003079G>C	ENST00000274364.6	+	36	4966	c.4669G>C	c.(4669-4671)Gtt>Ctt	p.V1557L	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	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		Somatic				IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	p.V1557L	NM_006633.2	NP_006624	WXS	Illumina GAIIx	Phase_I	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	13	23	---	---	---	---	C	76003079	G	C	76003079	3	2	106	1	0	0	0	0	1	0	0	0	7815	1261	44	4	4811	4	IQGAP2	5	76003079	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		76003079	104912181	21	5114										
CYFIP2	26999	broad.mit.edu	37	chr5	156734848	156734848	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tgccaagaagagaattaatcTtagcaaaattgataaattct	6	5	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.chr5:156734848T>G	ENST00000521420.1	+	8	888	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000347377.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000442283.2_5'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)			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		Somatic				CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000442283.2_5'UTR	p.L292R	NM_001037332.2	NP_001032409.2	WXS	Illumina GAIIx	Phase_I	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	3	11	---	---	---	---	G	156734848	T	G	156734848	3	3	106	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	80731769	156734848	24180412	22	5115										
CDYL	9425	broad.mit.edu	37	chr6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tcaaactctcggcaggtacaTctccgttcatggatgcatta	8	11	4	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.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P			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		Somatic				CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000449732.2_Missense_Mutation_p.S101P	p.S287P			WXS	Illumina GAIIx	Phase_I	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	19	58	---	---	---	---	C	4935754	T	C	4935754	3	2	106	1	0	0	0	0	1	0	0	0	3185	1435	50	2	707	2	CDYL	6	4935754	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		4935754	166179313	23	5116										
DSP	1832	broad.mit.edu	37	chr6	7583503	7583503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ggggaagaagtcagtggaagAagttgcttctgaaatccagc	14	6	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.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		Somatic				DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	p.E2003G	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	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	25	36	---	---	---	---	G	7583503	A	G	7583503	3	3	106	1	0	0	0	0	1	0	0	0	4781	246	9	2	6102	2	DSP	6	7583503	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	2647749	7583503	163531564	24	5117										
EPHA7	2045	broad.mit.edu	37	chr6	93953242	93953242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	atgaccaaccagtgtgatccCtaaactcatcacatccctga	5	14	2	3	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		Somatic					p.G967R	NM_004440.3	NP_004431.1	WXS	Illumina GAIIx	Phase_I	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	8	67	---	---	---	---	T	93953242	C	T	93953242	3	4	106	1	0	0	0	0	1	0	0	0	5172	681	24	2	101	2	EPHA7	6	93953242	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	86369739	93953242	77161825	25	5118										
MGC87042	256227	broad.mit.edu	37	chr7	22533125	22533125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ggttccattatgaacttggaCaattgctgctatcacacctg	8	10	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.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		Somatic				STEAP1B_ENST00000406890.2_Missense_Mutation_p.V120I	p.V139I	NM_001164460.1	NP_001157932.1	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	T	22533125	C	T	22533125	3	4	106	1	0	0	0	0	1	0	0	0	9554	478	17	2	662	2	MGC87042	7	22533125	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		22533125	136605538	26	5119										
FAM188B	84182	broad.mit.edu	37	chr7	30821758	30821758	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gatgctcagagactacactgGtaaatatatatgacctttca	7	8	2	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.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		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR	p.V117L	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	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	19	48	---	---	---	---	C	30821758	G	C	30821758	3	2	106	1	0	0	0	0	1	0	0	0	5515	1261	44	4	359	4	FAM188B	7	30821758	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8288633	30821758	128316905	27	5120										
CHD7	55636	broad.mit.edu	37	chr8	61734470	61734470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gaaactaatgtccagggagcCggaaacagagcgtgtggtaa	14	7	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.chr8:61734470C>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		Somatic				CHD7_ENST00000525508.1_Missense_Mutation_p.P940L|CHD7_ENST00000524602.1_Intron	p.P940L	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	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	6	14	---	---	---	---	T	61734470	C	T	61734470	3	4	106	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		61734470	84629552	28	5121										
KCNV1	27012	broad.mit.edu	37	chr8	110980473	110980473	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ttggtaagcttctttagggcTtcacgctgtctaacagctgc	10	10	3	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.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		Somatic				KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D	p.E449D			WXS	Illumina GAIIx	Phase_I	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	13	69	---	---	---	---	A	110980473	T	A	110980473	3	1	106	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	49246003	110980473	35383549	29	5122										
FAM83A	84985	broad.mit.edu	37	chr8	124195408	124195408	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	agctccctacagtccggcacCtacttccctgtggcctcaga	8	17	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.chr8:124195408C>A	ENST00000518448.1	+	2	2326	c.312C>A	c.(310-312)acC>acA	p.T104T	FAM83A_ENST00000318462.6_Silent_p.T104T|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_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			Somatic				FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T	p.T104T			WXS	Illumina GAIIx	Phase_I	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	33	130	---	---	---	---	A	124195408	C	A	124195408	2	1	106	1	0	0	0	0	0	0	0	1	5633	668	24	1		1	FAM83A	8	124195408	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	13214935	124195408	22168614	30	5123										
OC90	729330	broad.mit.edu	37	chr8	133036907	133036907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	acaggctgctggctgcccagGgcacccgagtctgcttgggg	16	13	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.chr8:133036907G>T	ENST00000443356.2	-	15	1389	c.1303C>A	c.(1303-1305)Cct>Act	p.P435T	OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000262283.5_Missense_Mutation_p.P631T|OC90_ENST00000603859.1_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		Somatic				OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T	p.P631T			WXS	Illumina GAIIx	Phase_I	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	13	27	---	---	---	---	T	133036907	G	T	133036907	3	4	106	1	0	0	0	0	1	0	0	0	10814	1232	43	1	182	1	OC90	8	133036907	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8841499	133036907	13327115	31	5124										
BNC2	54796	broad.mit.edu	37	chr9	16419581	16419581	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ctaagggagggctgcgacgaGtccaggcccatgtcatcgag	15	11	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.chr9:16419581G>C	ENST00000380672.4	-	7	2763	c.2706C>G	c.(2704-2706)gaC>gaG	p.D902E	BNC2_ENST00000545497.1_Missense_Mutation_p.D807E|BNC2_ENST00000380667.2_Missense_Mutation_p.D835E	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		Somatic				BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E	p.D902E	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	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	36	61	---	---	---	---	C	16419581	G	C	16419581	3	2	106	1	0	0	0	0	1	0	0	0	1475	1020	36	4	597	4	BNC2	9	16419581	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		16419581	124793850	32	5125										
C9orf23	138716	broad.mit.edu	37	chr9	34611074	34611074	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gcctgggacccgccgcttgaCaatctcagcgcagctgacag	12	15	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.chr9:34611074C>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		Somatic				RPP25L_ENST00000378959.4_Missense_Mutation_p.V74L	p.V74L	NM_148179.2	NP_680545.1	WXS	Illumina GAIIx	Phase_I	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	8	48	---	---	---	---	G	34611074	C	G	34611074	3	3	106	1	0	0	0	0	1	0	0	0	2474	478	17	4	275	4	C9orf23	9	34611074	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18191493	34611074	106602357	33	5126										
UNC13B	10497	broad.mit.edu	37	chr9	35382355	35382355	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	cgggtgctgtgtttttcaggCactttgcatgtttatcatcc	10	9	2	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.chr9:35382355C>G	ENST00000378495.3	+	20	2632	c.2410C>G	c.(2410-2412)Cac>Gac	p.H804D	UNC13B_ENST00000378496.4_Splice_Site_p.H804D|UNC13B_ENST00000396787.1_Splice_Site_p.H816D	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.(2410-2412)Cac>Gac		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			Somatic				UNC13B_ENST00000396787.1_Splice_Site_p.H816D|UNC13B_ENST00000378496.4_Splice_Site_p.H804D	p.H804D	NM_006377.3	NP_006368.3	WXS	Illumina GAIIx	Phase_I	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.2410C>G	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	19	54	---	---	---	---	G	35382355	C	G	35382355	5	3	106	1	0	0	0	0	0	0	1	0	16982	724	25	4	2488	4	UNC13B	9	35382355	Splice_Site	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	771281	35382355	105831076	34	5127										
FRMPD1	22844	broad.mit.edu	37	chr9	37740677	37740677	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ccagtgtctccccggccagcTacctgagtgacagttccgag	11	15	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_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N			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		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N	p.Y718N			WXS	Illumina GAIIx	Phase_I	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	16	17	---	---	---	---	A	37740677	T	A	37740677	3	1	106	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	35	5128										
GRIN3A	116443	broad.mit.edu	37	chr9	104432660	104432660	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	agagccacaaaaatccccagCcacattgtccagtggagtgg	10	12	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.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*		Somatic					p.W678*	NM_133445.2	NP_597702.2	WXS	Illumina GAIIx	Phase_I	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	34	108	---	---	---	---	T	104432660	C	T	104432660	4	4	106	1	0	0	0	0	0	1	0	0	6783	740	26	2	1341	2	GRIN3A	9	104432660	Nonsense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	66691983	104432660	36780771	36	5129										
AMBP	259	broad.mit.edu	37	chr9	116825038	116825054	+	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCTGCGGGGGAGAGAAA	-													0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	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.(604-606)ttt>tt		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			Somatic					p.F202fs	NM_001633.3	NP_001624.1	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			7	866	-			202					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Splice_Site	DEL	ENST00000265132.3	37	c.604delTTTCTCTCCCCCGCAGA	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	106	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	37	5130										
PSMD5	5711	broad.mit.edu	37	chr9	123586854	123586854	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gctacaccaatcatagtgggGtcctgactttctatcatttc	7	11	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.chr9:123586854G>C	ENST00000210313.3	-	7	998	c.924C>G	c.(922-924)gaC>gaG	p.D308E	PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E|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	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		Somatic				PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	p.D308E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	WXS	Illumina GAIIx	Phase_I	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	8	112	---	---	---	---	C	123586854	G	C	123586854	3	2	106	1	0	0	0	0	1	0	0	0	12701	1252	44	4	606	4	PSMD5	9	123586854	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6761816	123586854	17626577	38	5131										
PPP2R4	5524	broad.mit.edu	37	chr9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gaagaagctgaccttcgagtAcagagtctccgaggtaggcc	13	10	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.chr9:131885404A>G	ENST00000337738.1	+	3	470	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000347048.4_Intron	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		Somatic				PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000347048.4_Intron|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	p.Y68C	NM_178001.2	NP_821068.1	WXS	Illumina GAIIx	Phase_I	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	4	168	---	---	---	---	G	131885404	A	G	131885404	3	3	106	1	0	0	0	0	1	0	0	0	12391	391	14	2	213	2	PPP2R4	9	131885404	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	8298550	131885404	9328027	39	5132										
TACC2	10579	broad.mit.edu	37	chr10	123970866	123970866	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	aaagatgaaaaagacacccgAgaaacttgacaacactcctg	7	10	0	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.chr10:123970866A>T	ENST00000369005.1	+	9	7266	c.6926A>T	c.(6925-6927)gAg>gTg	p.E2309V	TACC2_ENST00000368999.1_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V	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		Somatic				TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V	p.E2309V	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	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	40	74	---	---	---	---	T	123970866	A	T	123970866	3	4	106	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		123970866	11563881	40	5133										
ADAM12	8038	broad.mit.edu	37	chr10	127730776	127730776	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tggccctggccgcgctccctGttggactctgcagcttcctg	12	16	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.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			Somatic				ADAM12_ENST00000368679.4_Intron	p.N714N	NM_021641.3	NP_067673.2	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	A	127730776	G	A	127730776	1	1	106	0	1	0	0	0	0	0	0	0	236	1368	48	2		2	ADAM12	10	127730776	Intron	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	3759910	127730776	7803971	41	5134										
SPON1	10418	broad.mit.edu	37	chr11	13984532	13984532	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ctgcccctggccgcggcgctGgccttctccgacgagaccct	12	19	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	6	14	---	---	---	---	C	13984532	G	C	13984532	1	2	106	0	1	0	0	0	0	0	0	0	15081	1335	47	4		4	SPON1	11	13984532	RNA	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		13984532	121021984	42	5135										
MRGPRX1	259249	broad.mit.edu	37	chr11	18955439	18955439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	caccttcatccacctcagacGcgtcctgcagagccctctgg	8	18	3	2	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	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	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		Somatic					p.A298V	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	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	21	36	---	---	---	---	A	18955439	G	A	18955439	3	1	106	1	0	0	0	0	1	0	0	0	9766	1087	38	2	79	2	MRGPRX1	11	18955439	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	4970907	18955439	116051077	43	5136										
LRP4	4038	broad.mit.edu	37	chr11	46917845	46917845	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	cctctgcccaatgcagcgccCattccaacacaggaactggt	8	16	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.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		Somatic					p.G322R	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	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	33	67	---	---	---	---	G	46917845	C	G	46917845	3	3	106	1	0	0	0	0	1	0	0	0	8959	594	21	4	4873	4	LRP4	11	46917845	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	27962406	46917845	88088671	44	5137										
LRMP	55259	broad.mit.edu	37	chr12	25260815	25260815	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tcagaaaggctaataaggccCtctggctctctattgcattc	8	11	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.chr12:25260815C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F|LRMP_ENST00000354454.3_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			Somatic				LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	p.L441F	NM_006152.3	NP_006143.2	WXS	Illumina GAIIx	Phase_I	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	19	71	---	---	---	---	T	25260815	C	T	25260815	1	4	106	0	1	0	0	0	0	0	0	0	8950	681	24	2		2	LRMP	12	25260815	IGR	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		25260815	108591080	45	5138										
PLXNC1	10154	broad.mit.edu	37	chr12	94637768	94637768	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tttgatgtaattgacaacttAatcatttcacatgaattaaa	4	5	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.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		Somatic					p.L785F	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	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	18	24	---	---	---	---	T	94637768	A	T	94637768	3	4	106	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	46	5139										
IQCD	115811	broad.mit.edu	37	chr12	113645503	113645503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ggggttgctgagcaagagtcTaaggacgttcttggtggagt	17	5	2	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.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		Somatic				IQCD_ENST00000299732.2_Missense_Mutation_p.R157G|IQCD_ENST00000416617.2_Missense_Mutation_p.R157G	p.R157G			WXS	Illumina GAIIx	Phase_I	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	12	131	---	---	---	---	C	113645503	T	C	113645503	3	2	106	1	0	0	0	0	1	0	0	0	7805	1530	53	2	582	2	IQCD	12	113645503	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	19007735	113645503	20206392	47	5140										
NOS1	4842	broad.mit.edu	37	chr12	117660556	117660556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tcccgggagtaagccgtgtaCagctctctgaagaccccctt	10	14	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.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			Somatic				NOS1_ENST00000338101.4_Silent_p.L1347L|NOS1_ENST00000344089.3_3'UTR	p.L1313L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	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	8	189	---	---	---	---	T	117660556	C	T	117660556	2	4	106	1	0	0	0	0	0	0	0	1	10541	465	17	2		2	NOS1	12	117660556	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4015053	117660556	16191339	48	5141										
GPR133	283383	broad.mit.edu	37	chr12	131490521	131490521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tctgctctctctgcagcctgGagcaccgtcgtgggtctgct	12	14	4	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		Somatic				GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	p.W420C	NM_198827.3	NP_942122.2	WXS	Illumina GAIIx	Phase_I	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	14	30	---	---	---	---	C	131490521	G	C	131490521	3	2	106	1	0	0	0	0	1	0	0	0	6643	1183	41	4	1306	4	GPR133	12	131490521	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	13829965	131490521	2361374	49	5142										
ANKLE2	23141	broad.mit.edu	37	chr12	133324779	133324779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gataccgggggttgctccagAtaaggtcagaaaaggtgtcc	14	8	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.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		Somatic				ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T	p.I267T			WXS	Illumina GAIIx	Phase_I	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	8	29	---	---	---	---	G	133324779	A	G	133324779	3	3	106	1	0	0	0	0	1	0	0	0	633	333	12	2	1870	2	ANKLE2	12	133324779	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	1834258	133324779	527116	50	5143										
CDH24	64403	broad.mit.edu	37	chr14	23522821	23522821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gcctgggtgaaggcaggtggCtctggggcatcttgcactgc	17	10	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.chr14:23522821C>T	ENST00000267383.5	-	6	1202	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CDH24_ENST00000397359.3_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E|CDH24_ENST00000554034.1_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			Somatic				CDH24_ENST00000267383.5_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E	p.E370E	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	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	28	57	---	---	---	---	T	23522821	C	T	23522821	2	4	106	1	0	0	0	0	0	0	0	1	3109	796	28	2		2	CDH24	14	23522821	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		23522821	83826719	51	5144										
C14orf115	55237	broad.mit.edu	37	chr14	74823853	74823853	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gacactactacctccagggcAtgatcgactccaaagtgatg	9	12	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.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		Somatic					p.M123L	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	T	74823853	A	T	74823853	3	4	106	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	52	5145										
BTBD7	55727	broad.mit.edu	37	chr14	93709033	93709033	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tgttttttaggagacgtctgAccaggtaggtaggctgactt	13	6	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.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			Somatic				BTBD7_ENST00000554565.1_Silent_p.G644G|BTBD7_ENST00000393170.2_Silent_p.G569G	p.G995G	NM_001002860.2	NP_001002860.2	WXS	Illumina GAIIx	Phase_I	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	9	119	---	---	---	---	T	93709033	A	T	93709033	2	4	106	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	53	5146										
UNC13C	440279	broad.mit.edu	37	chr15	54792334	54792334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	aacgaagatgtgtcaatggaAttccttcatggagcactggg	12	7	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.chr15:54792334A>G	ENST00000260323.11	+	20	5118	c.5118A>G	c.(5116-5118)gaA>gaG	p.E1706E	UNC13C_ENST00000537900.1_Silent_p.E1704E|UNC13C_ENST00000545554.1_Silent_p.E1706E	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			Somatic				UNC13C_ENST00000260323.11_Silent_p.E1706E|UNC13C_ENST00000537900.1_Silent_p.E1704E	p.E1706E			WXS	Illumina GAIIx	Phase_I	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	14	16	---	---	---	---	G	54792334	A	G	54792334	2	3	106	1	0	0	0	0	0	0	0	1	16983	98	4	2		2	UNC13C	15	54792334	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08		54792334	47739058	54	5147										
ZWILCH	55055	broad.mit.edu	37	chr15	66821854	66821854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gtgatttcataccaagacttGgtgaagtgtttcacattgat	9	6	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.chr15:66821854G>A	ENST00000307897.5	+	12	1478	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_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			Somatic				ZWILCH_ENST00000565627.1_Silent_p.L252L|ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L	p.L366L	NM_017975.3	NP_060445.3	WXS	Illumina GAIIx	Phase_I	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	20	39	---	---	---	---	A	66821854	G	A	66821854	2	1	106	1	0	0	0	0	0	0	0	1	18245	1339	47	2		2	ZWILCH	15	66821854	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	12029520	66821854	35709538	55	5148										
SNX33	257364	broad.mit.edu	37	chr15	75941791	75941791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gaggaggatgatgatgatgaCtgggatgactgggacgacgg	19	4	0	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.chr15:75941791C>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			Somatic					p.D116D	NM_153271.1	NP_695003.1	WXS	Illumina GAIIx	Phase_I	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	4	127	---	---	---	---	T	75941791	C	T	75941791	2	4	106	1	0	0	0	0	0	0	0	1	14903	564	20	2		2	SNX33	15	75941791	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	9119937	75941791	26589601	56	5149										
OR4F6	390648	broad.mit.edu	37	chr15	102346462	102346470	+	In_Frame_Del	DEL	TCTTCCTCG	TCTTCCTCG	-													0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	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)gatcttcctcga>gaa		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		Somatic					p.180_183DLPR>E	NM_001005326.1	NP_001005326.1	WXS	Illumina GAIIx	Phase_I	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	106	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	26404671	102346462	184930	57	5150										
KIAA0430	9665	broad.mit.edu	37	chr16	15729800	15729800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gcaggaagacaggttactctCtagacacatgctgggaaagt	12	8	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.chr16:15729800C>G	ENST00000396368.3	-	3	750	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q	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		Somatic				KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q	p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	WXS	Illumina GAIIx	Phase_I	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	22	79	---	---	---	---	G	15729800	C	G	15729800	3	3	106	1	0	0	0	0	1	0	0	0	8177	922	32	4	4787	4	KIAA0430	16	15729800	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		15729800	74624953	58	5151										
CHD9	80205	broad.mit.edu	37	chr16	53190625	53190625	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gtttctggtccacatagagtCaatgttaaccacccaccaca	6	13	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.chr16:53190625C>T	ENST00000398510.3	+	1	711	c.624C>T	c.(622-624)gtC>gtT	p.V208V	CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000566029.1_Silent_p.V208V|CHD9_ENST00000447540.1_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			Somatic				CHD9_ENST00000398510.3_Silent_p.V208V|CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V	p.V208V			WXS	Illumina GAIIx	Phase_I	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	45	93	---	---	---	---	T	53190625	C	T	53190625	2	4	106	1	0	0	0	0	0	0	0	1	3332	813	29	2		2	CHD9	16	53190625	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	37460825	53190625	37164128	59	5152										
KIFC3	3801	broad.mit.edu	37	chr16	57803814	57803814	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tcctcttccagggactgcatCtcctccagcatctgcccatg	7	17	3	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.chr16:57803814C>A	ENST00000379655.4	-	8	1250	c.993G>T	c.(991-993)gaG>gaT	p.E331D	KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D	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		Somatic				KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D	p.E331D	NM_005550.3	NP_005541.3	WXS	Illumina GAIIx	Phase_I	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	6	35	---	---	---	---	A	57803814	C	A	57803814	3	1	106	1	0	0	0	0	1	0	0	0	8314	912	32	3	1565	3	KIFC3	16	57803814	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4613189	57803814	32550939	60	5153										
RABEP1	9135	broad.mit.edu	37	chr17	5266210	5266210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	attttggtgcccttcaggtaCataatgctggaaataaactt	8	7	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.chr17:5266210C>T	ENST00000546142.2	+	10	1754	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Missense_Mutation_p.H523Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|RP11-420A6.2_ENST00000572792.1_RNA			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		Somatic				RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|NUP88_ENST00000573169.1_Intron	p.H523Y	NM_004703.4	NP_004694.2	WXS	Illumina GAIIx	Phase_I	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	11	25	---	---	---	---	T	5266210	C	T	5266210	3	4	106	1	0	0	0	0	1	0	0	0	12961	478	17	2	1605	2	RABEP1	17	5266210	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		5266210	75929000	61	5154										
C17orf81	23587	broad.mit.edu	37	chr17	7160288	7160288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	gctcagactgaggtgaccctGggcggtaccatgggccaggc	16	12	1	3	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	ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|ELP5_ENST00000396627.2_Silent_p.L190L|ELP5_ENST00000574993.1_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron	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			Somatic				ELP5_ENST00000354429.2_Silent_p.L190L|ELP5_ENST00000396628.2_Silent_p.L190L|ELP5_ENST00000356683.2_Silent_p.L190L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Silent_p.L190L	p.L190L			WXS	Illumina GAIIx	Phase_I					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	3	30	---	---	---	---	A	7160288	G	A	7160288	2	1	106	1	0	0	0	0	0	0	0	1	1886	1335	47	2		2	C17orf81	17	7160288	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	1894078	7160288	74034922	62	5155										
ZNF287	57336	broad.mit.edu	37	chr17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-													0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	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)cttcag>cag		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		Somatic				ZNF287_ENST00000395825.3_In_Frame_Del_p.L524del	p.L524del			WXS	Illumina GAIIx	Phase_I	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	106	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	9295595	16455883	64739327	63	5156										
FBXW10	10517	broad.mit.edu	37	chr17	18651268	18651268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tttcagggctcaatcaagacAtcacagatgtgtgtttttcc	8	9	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.chr17:18651268A>T	ENST00000395665.4	+	2	741	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000308799.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_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		Somatic				FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F	p.I174F			WXS	Illumina GAIIx	Phase_I	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	10	22	---	---	---	---	T	18651268	A	T	18651268	3	4	106	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	64	5157										
SC65	10609	broad.mit.edu	37	chr17	39967427	39967427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ccgtgagggactcgtcggcgAcgtccagcatcccctgatag	13	14	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.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		Somatic				LEPREL4_ENST00000393928.1_Missense_Mutation_p.V191G	p.V191G			WXS	Illumina GAIIx	Phase_I	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	84	186	---	---	---	---	C	39967427	A	C	39967427	3	2	106	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	65	5158										
ABCA5	23461	broad.mit.edu	37	chr17	67270183	67270183	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	aatataagtctggaacaagtTtgatgggaaccacagcattt	9	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.chr17:67270183T>A	ENST00000392676.3	-	20	2745	c.2681A>T	c.(2680-2682)aAa>aTa	p.K894I	ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_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		Somatic				ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I	p.K894I			WXS	Illumina GAIIx	Phase_I	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	19	62	---	---	---	---	A	67270183	T	A	67270183	3	1	106	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	66	5159										
ZNF93	81931	broad.mit.edu	37	chr19	20044389	20044389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tttgtgaagaatgtggcaaaGcctttaagtactcctctgcc	9	9	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.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		Somatic				AC007204.2_ENST00000592245.1_lincRNA	p.A209T	NM_031218.3	NP_112495.2	WXS	Illumina GAIIx	Phase_I	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	13	20	---	---	---	---	A	20044389	G	A	20044389	3	1	106	1	0	0	0	0	1	0	0	0	18199	971	34	2	639	2	ZNF93	19	20044389	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		20044389	39084594	67	5160										
ZNFX1	57169	broad.mit.edu	37	chr20	47866085	47866085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	agaagagctgcccggtatagGtagtgaggatggtgatctgg	17	5	1	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.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		Somatic				ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N	p.T1159N	NM_021035.2	NP_066363.1	WXS	Illumina GAIIx	Phase_I	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	7	80	---	---	---	---	T	47866085	G	T	47866085	3	4	106	1	0	0	0	0	1	0	0	0	18202	1261	44	3	2284	3	ZNFX1	20	47866085	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		47866085	15159435	68	5161										
SS18L1	26039	broad.mit.edu	37	chr20	60737905	60737905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tacagccacgcgggacccgcCtcgcagggcgtccccatgca	12	18	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.chr20:60737905C>A	ENST00000331758.3	+	5	500	c.474C>A	c.(472-474)gcC>gcA	p.A158A	SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000491916.1_3'UTR	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			Somatic				SS18L1_ENST00000370848.4_Silent_p.A161A|SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000491916.1_3'UTR	p.A158A	NM_198935.1	NP_945173.1	WXS	Illumina GAIIx	Phase_I	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	13	51	---	---	---	---	A	60737905	C	A	60737905	2	1	106	1	0	0	0	0	0	0	0	1	15175	668	24	1		1	SS18L1	20	60737905	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	12871820	60737905	2287615	69	5162										
MYH9	4627	broad.mit.edu	37	chr22	36696287	36696287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ttctgccgggcgctctcctcCtcctccagctgctcctcaag	8	19	3	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.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			Somatic					p.E954E	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	T	36696287	C	T	36696287	2	4	106	1	0	0	0	0	0	0	0	1	10042	680	24	2		2	MYH9	22	36696287	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		36696287	14608279	70	5163										
AWAT2	158835	broad.mit.edu	37	chrX	69261786	69261786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	ctcctggcttggattctcaaTcttgggcattggtagaggct	12	9	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.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		Somatic					p.I292V	NM_001002254.1	NP_001002254.1	WXS	Illumina GAIIx	Phase_I	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	18	23	---	---	---	---	C	69261786	T	C	69261786	3	2	106	1	0	0	0	0	1	0	0	0	1235	1435	50	2	131	2	AWAT2	23	69261786	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		69261786	86008774	71	5164										
IL13RA1	3597	broad.mit.edu	37	chrX	117895121	117895121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0694444444444444	5	1	1.0015333147477	0.97291807718348	1.02156398104265	1	1	0	tgaaacctgatcctccacatAttaaaaacctctccttccac	2	15	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.chrX:117895121A>G	ENST00000371666.3	+	6	764	c.697A>G	c.(697-699)Att>Gtt	p.I233V	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	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		Somatic				IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V	p.I233V	NM_001560.2	NP_001551.1	WXS	Illumina GAIIx	Phase_I	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	57	14	---	---	---	---	G	117895121	A	G	117895121	3	3	106	1	0	0	0	0	1	0	0	0	7629	449	16	2	719	2	IL13RA1	23	117895121	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	48633335	117895121	37375439	72	5165										
MTF1	4520	broad.mit.edu	37	chr1	38300817	38300818	+	Missense_Mutation	DNP	AC	AC	TT													0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	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.chr1:38300817_38300818AC>TT	ENST00000373036.4	-	6	1063_1064	c.923_924GT>AA	c.(922-924)aGT>aAA	p.S308K		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)				CTTTCATGTGACTTTTGAGACT	0.406																																						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|c.(922-924)aGt>aAt		metal-regulatory transcription factor 1																																				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|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.923_924delinsTT	1.37:g.38300817_38300818delinsTT	ENSP00000362127:p.Ser308Lys		Somatic					p.S308R|p.S308N	NM_005955.2	NP_005946.2	WXS	Illumina GAIIx	Phase_I	Q14872	MTF1_HUMAN			6	1064|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.924T>A|c.923G>A	CCDS30676.1																																																																																				0.406	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		36|37	73|74	36	73	---	---	---	---	TT	38300818	AC	TT	38300817	3	4	107	1	0	0	0	0	1	0	0	0	9922	272	10	5	1361	5	MTF1	1	38300817	Missense_Mutation	DNP	AC	TCGA-EJ-A65G-01A-21D-A29Q-08		38300817	210949804	1	5166										
LRRIQ3	127255	broad.mit.edu	37	chr1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	attcttcatgactggttagcTcttctgtgactgttccatga	8	9	4	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.chr1:74649343T>C	ENST00000395089.1	-	1	25	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G|LRRIQ3_ENST00000354431.4_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	20	---	---	---	---	C	74649343	T	C	74649343	3	2	107	1	0	0	0	0	1	0	0	0	9030	1551	54	2	1876	2	LRRIQ3	1	74649343	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08	36348526	74649343	174601278	2	5167										
ITPKB	3707	broad.mit.edu	37	chr1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	cggctcagtgagggcaagatCctgtggacggtgtggcccag	17	10	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.chr1:226924202C>T	ENST00000272117.3	-	1	957	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_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		Somatic				ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N	p.D320N	NM_002221.3	NP_002212.3	WXS	Illumina GAIIx	Phase_I	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	5	89	---	---	---	---	T	226924202	C	T	226924202	3	4	107	1	0	0	0	0	1	0	0	0	7918	855	30	2	1910	2	ITPKB	1	226924202	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	152274859	226924202	22326419	3	5168										
POLQ	10721	broad.mit.edu	37	chr3	121208388	121208388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	atatgctccacaaaattatcAttagttagtgttatgttcca	5	7	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.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			Somatic					p.N1130N	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	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	26	67	---	---	---	---	G	121208388	A	G	121208388	2	3	107	1	0	0	0	0	0	0	0	1	12208	214	8	2		2	POLQ	3	121208388	Silent	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08		121208388	76814042	4	5169										
PCDHA1	56147	broad.mit.edu	37	chr5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	gtctgcgcgggacgcggacgCgcaggagaacgcgctggtgt	19	11	1	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.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	56147							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		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V	p.A484V	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			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	6	172	---	---	---	---	T	140167326	C	T	140167326	3	4	107	1	0	0	0	0	1	0	0	0	11519	768	27	2	1453	2	PCDHA1	5	140167326	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		140167326	40747934	5	5170										
BAI3	577	broad.mit.edu	37	chr6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	acacggagtatgggaggaatGgtcaccatggagtttatgtt	14	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.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		Somatic					p.W351L	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	37	94	---	---	---	---	T	69653743	G	T	69653743	3	4	107	1	0	0	0	0	1	0	0	0	1300	1357	47	1	1066	1	BAI3	6	69653743	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		69653743	101461324	6	5171										
HIVEP2	3097	broad.mit.edu	37	chr6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	actgtccatgtgcatgatctGtggctgggccaggtgcagtg	15	9	1	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.chr6:143092407G>A	ENST00000367604.1	-	4	4108	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000012134.2_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*		Somatic				HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*	p.Q1157*	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	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	5	137	---	---	---	---	A	143092407	G	A	143092407	4	1	107	1	0	0	0	0	0	1	0	0	7187	1386	48	2	3895	2	HIVEP2	6	143092407	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	73438664	143092407	28022660	7	5172										
OXR1	55074	broad.mit.edu	37	chr8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	aattggctatccatggactcTtgtttatggtactggaaaac	9	7	1	0	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_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000445937.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|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		Somatic				OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R	p.L710R	NM_018002.3	NP_060472.2	WXS	Illumina GAIIx	Phase_I	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	5	98	---	---	---	---	G	107752617	T	G	107752617	3	3	107	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	8	5173										
DFNB31	25861	broad.mit.edu	37	chr9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	gcctcttggagctggggttgGcaggggagacggaggcatag	20	7	1	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.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		Somatic				DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G|DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G	p.A657G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	WXS	Illumina GAIIx	Phase_I	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	6	151	---	---	---	---	C	117168901	G	C	117168901	3	2	107	1	0	0	0	0	1	0	0	0	4455	1203	42	4	769	4	DFNB31	9	117168901	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		117168901	24044530	9	5174										
CUTC	51076	broad.mit.edu	37	chr10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	attcgtcttgccaagctttaTggtgctgatggtttggtttt	11	6	1	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.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*		Somatic				CUTC_ENST00000493385.1_3'UTR	p.Y109*	NM_015960.2	NP_057044.2	WXS	Illumina GAIIx	Phase_I	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	10	147	---	---	---	---	A	101503043	T	A	101503043	4	1	107	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		101503043	34031704	10	5175										
RRAS2	22800	broad.mit.edu	37	chr11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	tcatggctccaaactcttctTgtcctgctgtatccaaaact	5	13	3	0	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_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR			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		Somatic				RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR	p.Q78L	NM_012250.5	NP_036382.2	WXS	Illumina GAIIx	Phase_I	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	11	114	---	---	---	---	A	14316390	T	A	14316390	3	1	107	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	11	5176										
SLC5A12	159963	broad.mit.edu	37	chr11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	tggtgcagggtaaatgaaggCcccaatggccacccaaaatg	12	10	0	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		Somatic					p.A456T	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	T	26702711	C	T	26702711	3	4	107	1	0	0	0	0	1	0	0	0	14664	739	26	2	506	2	SLC5A12	11	26702711	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	12386321	26702711	108303805	12	5177										
OR8K3	219473	broad.mit.edu	37	chr11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	ggcatgattgtcctcaccaaGttggactccaggttgcaaac	10	11	1	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.chr11:56085932G>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		Somatic					p.K50N	NM_001005202.1	NP_001005202.1	WXS	Illumina GAIIx	Phase_I	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	36	140	---	---	---	---	T	56085932	G	T	56085932	3	4	107	1	0	0	0	0	1	0	0	0	11244	1020	36	3	152	3	OR8K3	11	56085932	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	29383221	56085932	78920584	13	5178										
OR5M10	390167	broad.mit.edu	37	chr11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-													0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	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)ggafs		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		Somatic					p.G253fs	NM_001004741.1	NP_001004741.1	WXS	Illumina GAIIx	Phase_I	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	107	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	14	5179										
PRB4	5545	broad.mit.edu	37	chr12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	gctttcctggatgaggtgggGgaccttgggactggttgcct	17	8	0	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.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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	662	---	---	---	---	A	11461642	G	A	11461642	3	1	107	1	0	0	0	0	1	0	0	0	12445	1232	43	2	472	2	PRB4	12	11461642	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		11461642	122390253	15	5180										
KCTD10	83892	broad.mit.edu	37	chr12	109894046	109894046	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	ataacatcctttatgaacagGacccttccgttaaagcgcag	7	11	0	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.chr12:109894046G>C	ENST00000228495.6	-	6	881	c.600C>G	c.(598-600)gtC>gtG	p.V200V	KCTD10_ENST00000424763.2_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_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			Somatic				KCTD10_ENST00000540089.1_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.V19V	p.V200V	NM_031954.3	NP_114160.1	WXS	Illumina GAIIx	Phase_I	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	12	86	---	---	---	---	C	109894046	G	C	109894046	2	2	107	1	0	0	0	0	0	0	0	1	8097	1161	41	4		4	KCTD10	12	109894046	Silent	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	98432404	109894046	23957849	16	5181										
ZSCAN10	84891	broad.mit.edu	37	chr16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	caactccggattgggctcggGgacgccctcagccactttga	12	14	1	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.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		Somatic				ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S|ZSCAN10_ENST00000575108.1_5'UTR	p.P284S	NM_032805.1	NP_116194.1	WXS	Illumina GAIIx	Phase_I	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	6	237	---	---	---	---	A	3140420	G	A	3140420	3	1	107	1	0	0	0	0	1	0	0	0	18224	1232	43	2	1331	2	ZSCAN10	16	3140420	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		3140420	87214333	17	5182										
C17orf68	80169	broad.mit.edu	37	chr17	8141481	8141481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	agtgcccttcccctgaggaaTtccacctggcaggagggagg	14	12	0	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.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		Somatic				CTC1_ENST00000581671.1_5'UTR	p.N172S	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	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	22	75	---	---	---	---	C	8141481	T	C	8141481	3	2	107	1	0	0	0	0	1	0	0	0	1876	1493	52	2	3218	2	C17orf68	17	8141481	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		8141481	73053729	18	5183										
CT47B1	643311	broad.mit.edu	37	chrX	120008936	120008936	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	tgggaccgacgcggcctcctGgaccgacgcagcctcctgga	14	16	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*		Somatic					p.Q197*	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	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	5	85	---	---	---	---	A	120008936	G	A	120008936	4	1	107	1	0	0	0	0	0	1	0	0	3989	1357	47	2	318	2	CT47B1	23	120008936	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		120008936	35261624	19	5184										
GPC3	2719	broad.mit.edu	37	chrX	132887602	132887602	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.05	1	1	1.05945945945946	3.53153153153153	0	1	1	0	agtacgttctccatgtcataGattctgtacatgccattcac	6	11	4	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.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		Somatic				GPC3_ENST00000543339.1_Missense_Mutation_p.I259M|GPC3_ENST00000394299.2_Missense_Mutation_p.I313M	p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	WXS	Illumina GAIIx	Phase_I	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	4	97	---	---	---	---	C	132887602	G	C	132887602	3	2	107	1	0	0	0	0	1	0	0	0	6599	932	33	4	900	4	GPC3	23	132887602	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	12878666	132887602	22382958	20	5185										
KCNA3	3738	broad.mit.edu	37	chr1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tgaccccaataaagaggaagAagatgagcaatcccagctcc	9	11	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.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		Somatic					p.F403C	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	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	23	35	---	---	---	---	C	111216224	A	C	111216224	3	2	108	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		111216224	138034397	1	5186										
HIPK1	204851	broad.mit.edu	37	chr1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ggccacagccttgatgaagcTcaagagtcttggtctgatcc	11	11	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.chr1:114483922T>G	ENST00000369558.1	+	2	1149	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_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		Somatic				HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R	p.L306R			WXS	Illumina GAIIx	Phase_I	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	10	66	---	---	---	---	G	114483922	T	G	114483922	3	3	108	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	2	5187			1	12		2	2	15	N	T_C	1.447169e-05
HIPK1	204851	broad.mit.edu	37	chr1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tgaagctcaagagtcttggtCtgatccacgctgaccttaag	10	10	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.chr1:114483936C>G	ENST00000369558.1	+	2	1163	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_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		Somatic				HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V	p.L311V			WXS	Illumina GAIIx	Phase_I	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	11	69	---	---	---	---	G	114483936	C	G	114483936	3	3	108	1	0	0	0	0	1	0	0	0	7116	912	32	4	933	4	HIPK1	1	114483936	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	14	114483936	134766685	3	5188			1	12		2	2	15	N	T_C	1.447169e-05
RGS21	431704	broad.mit.edu	37	chr1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	cttattttccacagattaacAttgacttcggtaccagagac	6	10	0	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.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		Somatic					p.I88L	NM_001039152.3	NP_001034241.1	WXS	Illumina GAIIx	Phase_I	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	29	45	---	---	---	---	C	192335057	A	C	192335057	3	2	108	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	77851121	192335057	56915564	4	5189										
RBKS	64080	broad.mit.edu	37	chr2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T													0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	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)aaagacfs		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		Somatic				AC110084.1_ENST00000601759.1_Intron	p.D316fs	NM_022128.1	NP_071411.1	WXS	Illumina GAIIx	Phase_I	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	108	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	5	5190										
FBLN2	2199	broad.mit.edu	37	chr3	13659706	13659706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	gagctgtgccagcacctttgCatcaatactgtgggttctta	10	10	2	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.chr3:13659706C>T	ENST00000295760.7	+	6	1929	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000404922.3_Silent_p.C620C|FBLN2_ENST00000492059.1_Silent_p.C620C	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	39	54	---	---	---	---	T	13659706	C	T	13659706	2	4	108	1	0	0	0	0	0	0	0	1	5699	718	25	2		2	FBLN2	3	13659706	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		13659706	184362724	6	5191										
ITGA9	3680	broad.mit.edu	37	chr3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tctcttgctgcagggtccttGtgggcgcaccaaaggcagat	13	11	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.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		Somatic				ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	p.V65M	NM_002207.2	NP_002198.2	WXS	Illumina GAIIx	Phase_I	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	13	34	---	---	---	---	A	37512505	G	A	37512505	3	1	108	1	0	0	0	0	1	0	0	0	7883	1377	48	2	199	2	ITGA9	3	37512505	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23852799	37512505	160509925	7	5192										
XRN1	54464	broad.mit.edu	37	chr3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tgaaaactcatagtcaatatActctctcattaaagacaagt	4	8	4	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.chr3:142141706A>T	ENST00000264951.4	-	7	886	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N|RNU1-100P_ENST00000365255.1_RNA	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	18	52	---	---	---	---	T	142141706	A	T	142141706	3	4	108	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	104629201	142141706	55880724	8	5193										
GZMK	3003	broad.mit.edu	37	chr5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	atcaaaaaatttataccattCtcaagagttacatcagatcc	3	9	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.chr5:54326364C>G	ENST00000231009.2	+	3	385	c.315C>G	c.(313-315)ttC>ttG	p.F105L	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000608466.1_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		Somatic				CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.F105L	NM_002104.2	NP_002095.1	WXS	Illumina GAIIx	Phase_I	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	29	49	---	---	---	---	G	54326364	C	G	54326364	3	3	108	1	0	0	0	0	1	0	0	0	6918	912	32	4	325	4	GZMK	5	54326364	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		54326364	126588896	9	5194										
F13A1	2162	broad.mit.edu	37	chr6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	cagtccaggccgatggggggAcgccataggcatagatattg	15	9	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.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		Somatic					p.V288D	NM_000129.3	NP_000120.2	WXS	Illumina GAIIx	Phase_I	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	41	49	---	---	---	---	T	6225029	A	T	6225029	3	4	108	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	10	5195										
TINAG	27283	broad.mit.edu	37	chr6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	agataatgaaagaaatcatgCaaaatggaccagttcaaggt	9	5	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.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*		Somatic					p.Q370*	NM_014464.3	NP_055279.3	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	T	54216177	C	T	54216177	4	4	108	1	0	0	0	0	0	1	0	0	15918	711	25	2	1138	2	TINAG	6	54216177	Nonsense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	47991148	54216177	116898890	11	5196										
MUC17	140453	broad.mit.edu	37	chr7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ctgctgaagttaccagcatgCcaacctcaactcctagtgaa	7	13	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.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		Somatic					p.P2801S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	7	368	---	---	---	---	T	100683098	C	T	100683098	3	4	108	1	0	0	0	0	1	0	0	0	9974	739	26	2	8411	2	MUC17	7	100683098	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		100683098	58455565	12	5197										
CSMD1	64478	broad.mit.edu	37	chr8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	atcactactgacaatcattcCgttggtgggtgtgccagggt	12	9	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.chr8:2824233C>T	ENST00000520002.1	-	59	9517	c.8962G>A	c.(8962-8964)Gga>Aga	p.G2988R	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R|CSMD1_ENST00000400186.3_Intron			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		Somatic				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	p.G2988R			WXS	Illumina GAIIx	Phase_I	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	7	8	---	---	---	---	T	2824233	C	T	2824233	3	4	108	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	13	5198										
ADRA1A	148	broad.mit.edu	37	chr8	26628173	26628173	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tcagagggcttgaaatcaggGaagaaagaccctggaagaaa	13	6	2	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.chr8:26628173G>A	ENST00000519229.1	-	2	900	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_ENST00000354550.4_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000380573.3_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			Somatic				ADRA1A_ENST00000380582.3_Silent_p.F298F|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.F298F	p.F298F			WXS	Illumina GAIIx	Phase_I	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	16	25	---	---	---	---	A	26628173	G	A	26628173	2	1	108	1	0	0	0	0	0	0	0	1	334	1165	41	2		2	ADRA1A	8	26628173	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23803940	26628173	119735849	14	5199										
TRPM3	80036	broad.mit.edu	37	chr9	73235281	73235281	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tcgcctcaagggaatatcatCctgtaattacagggaaacca	8	10	2	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.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_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000377110.3_Splice_Site_p.D602N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N	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																																						ENST00000377110.3																			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.(1804-1806)Gat>Aat		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			Somatic				TRPM3_ENST00000408909.2_Splice_Site_p.D461N|TRPM3_ENST00000358082.3_Splice_Site_p.D464N|TRPM3_ENST00000396280.5_Splice_Site_p.D451N|TRPM3_ENST00000357533.2_Splice_Site_p.D606N|TRPM3_ENST00000423814.3_Splice_Site_p.D629N|TRPM3_ENST00000396285.1_Splice_Site_p.D449N|TRPM3_ENST00000377106.1_Splice_Site_p.D474N|TRPM3_ENST00000360823.2_Splice_Site_p.D464N|TRPM3_ENST00000396292.4_Splice_Site_p.D474N|TRPM3_ENST00000377105.1_Splice_Site_p.D461N|TRPM3_ENST00000377111.2_Splice_Site_p.D602N	p.D602N			WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			15	2047	-								A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	SNP	ENST00000377111.2	37	c.1804G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	55	85	---	---	---	---	T	73235281	C	T	73235281	5	4	108	1	0	0	0	0	0	0	1	0	16584	869	30	2	3363	2	TRPM3	9	73235281	Splice_Site	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		73235281	67978150	15	5200										
EGR2	1959	broad.mit.edu	37	chr10	64573204	64573204	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	cggccacagtagtcacaggcGaagggcttctcaccggtgtg	14	12	2	0	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_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Silent_p.F398F	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			Somatic				EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000439032.1_Silent_p.F398F	p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	WXS	Illumina GAIIx	Phase_I	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	4	131	---	---	---	---	A	64573204	G	A	64573204	2	1	108	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	16	5201										
SSRP1	6749	broad.mit.edu	37	chr11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	gccgcacctcgctcctcctcCtcttctttttgctcttgttc	5	18	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.chr11:57094190C>T	ENST00000278412.2	-	16	2311	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	RP11-872D17.4_ENST00000534162.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank|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		Somatic				RP11-872D17.4_ENST00000534162.1_RNA	p.R682K	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	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	32	41	---	---	---	---	T	57094190	C	T	57094190	3	4	108	1	0	0	0	0	1	0	0	0	15193	681	24	2	92	2	SSRP1	11	57094190	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		57094190	77912326	17	5202										
TAF6L	10629	broad.mit.edu	37	chr11	62554330	62554330	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	gacaagaaggagccggcggcAgccccggactcggtgcggaa	17	12	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.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|TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA	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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	8	9	---	---	---	---	T	62554330	A	T	62554330	2	4	108	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	18	5203										
GAB2	9846	broad.mit.edu	37	chr11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ttgtcttcagaattggtgctGtccgatcggcccacaatcat	9	11	3	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.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		Somatic				GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	p.D444E	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	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	105	141	---	---	---	---	C	77934693	G	C	77934693	3	2	108	1	0	0	0	0	1	0	0	0	6149	1368	48	4	718	4	GAB2	11	77934693	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	15380363	77934693	57071823	19	5204										
ANO2	57101	broad.mit.edu	37	chr12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	cttgtcacacaggggacacaTggtgaaggcattctgctggt	13	9	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.chr12:5853449T>A	ENST00000356134.5	-	13	1287	c.1216A>T	c.(1216-1218)Atg>Ttg	p.M406L	ANO2_ENST00000327087.8_Missense_Mutation_p.M405L|ANO2_ENST00000546188.1_Missense_Mutation_p.M406L	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																																						ENST00000327087.8																			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.(1213-1215)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		Somatic				ANO2_ENST00000546188.1_Missense_Mutation_p.M406L|ANO2_ENST00000356134.5_Missense_Mutation_p.M406L	p.M405L	NM_001278597.1	NP_001265526.1	WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			12	1284	-			410					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1213A>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	21	36	---	---	---	---	A	5853449	T	A	5853449	3	1	108	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	20	5205										
AQR	9716	broad.mit.edu	37	chr15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ctgtatcaaatgcatgtacaTgttgtatacaaagtttgcca	7	7	1	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.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		Somatic					p.M1368L	NM_014691.2	NP_055506.1	WXS	Illumina GAIIx	Phase_I	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	21	36	---	---	---	---	A	35152284	T	A	35152284	3	1	108	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	21	5206										
SQRDL	58472	broad.mit.edu	37	chr15	45968454	45968454	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	attgaagtccgagccgataaAcaagaggctgtatttgagaa	11	6	0	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.chr15:45968454A>G	ENST00000260324.7	+	6	1196	c.810A>G	c.(808-810)aaA>aaG	p.K270K	RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_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			Somatic				RP11-96O20.4_ENST00000564080.1_Silent_p.K270K|SQRDL_ENST00000568606.1_Silent_p.K270K	p.K270K	NM_021199.3	NP_067022.1	WXS	Illumina GAIIx	Phase_I	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	49	61	---	---	---	---	G	45968454	A	G	45968454	2	3	108	1	0	0	0	0	0	0	0	1	15128	40	2	2		2	SQRDL	15	45968454	Silent	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	10816170	45968454	56562938	22	5207										
IFT140	9742	broad.mit.edu	37	chr16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	actcctcaggcaggtccgagGagtccttggccacggtcatc	12	14	2	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.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		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	p.S1180F	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	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	7	19	---	---	---	---	A	1570724	G	A	1570724	3	1	108	1	0	0	0	0	1	0	0	0	7556	1174	41	2	869	2	IFT140	16	1570724	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		1570724	88784029	23	5208										
LONP2	83752	broad.mit.edu	37	chr16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	gataatgatgacattgtcatGctagagaaaaaaatacgaac	8	5	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.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		Somatic				LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	p.M272I	NM_031490.2	NP_113678.2	WXS	Illumina GAIIx	Phase_I	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	32	45	---	---	---	---	T	48295427	G	T	48295427	3	4	108	1	0	0	0	0	1	0	0	0	8893	1319	46	3	834	3	LONP2	16	48295427	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	46724703	48295427	42059326	24	5209										
DHX40	79665	broad.mit.edu	37	chr17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	atttgtaatgttttcagatgGaatatcgaaagacgtcttaa	8	4	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.chr17:57684397G>C	ENST00000251241.4	+	18	2351	c.2204G>C	c.(2203-2205)gGa>gCa	p.G735A	DHX40_ENST00000451169.2_Missense_Mutation_p.G687A|DHX40_ENST00000425628.3_Missense_Mutation_p.G658A	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		Somatic				DHX40_ENST00000425628.3_Missense_Mutation_p.G658A|DHX40_ENST00000251241.4_Missense_Mutation_p.G735A	p.G687A			WXS	Illumina GAIIx	Phase_I	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	11	12	---	---	---	---	C	57684397	G	C	57684397	3	2	108	1	0	0	0	0	1	0	0	0	4512	1174	41	4	2274	4	DHX40	17	57684397	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		57684397	23510813	25	5210										
ZNF563	147837	broad.mit.edu	37	chr19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ttcactgaatctctctaccaTatgacatctgtaaaaaatga	4	9	4	3	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		Somatic				ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	p.M67L	NM_145276.2	NP_660319.1	WXS	Illumina GAIIx	Phase_I	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	29	46	---	---	---	---	G	12430640	T	G	12430640	3	3	108	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		12430640	46698343	26	5211										
ZNF536	9745	broad.mit.edu	37	chr19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	acccgtgcccactctgcggcAagcgcttccgcttcaacagc	9	18	2	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.chr19:30934878A>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		Somatic					p.K137E	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	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	10	48	---	---	---	---	G	30934878	A	G	30934878	3	3	108	1	0	0	0	0	1	0	0	0	17971	131	5	2	411	2	ZNF536	19	30934878	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	18504238	30934878	28194105	27	5212										
LSR	51599	broad.mit.edu	37	chr19	35753475	35753475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tcttcgtggttgtggtatgcCtggctgccttcctcatcttc	10	12	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.chr19:35753475C>T	ENST00000361790.3	+	5	961	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000602122.1_Silent_p.L249L	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			Somatic				LSR_ENST00000347609.4_Silent_p.L231L|LSR_ENST00000427250.1_Intron|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000361790.3_Silent_p.L268L	p.L249L			WXS	Illumina GAIIx	Phase_I	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	23	80	---	---	---	---	T	35753475	C	T	35753475	2	4	108	1	0	0	0	0	0	0	0	1	9064	680	24	2		2	LSR	19	35753475	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	4818597	35753475	23375508	28	5213										
IRGQ	126298	broad.mit.edu	37	chr19	44099419	44099419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	tccttgtcgcacagcgctgcGatcagcgcggacttccccaa	10	16	1	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.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	L34079.2_ENST00000594374.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|ZNF576_ENST00000391965.2_5'Flank|IRGQ_ENST00000422989.1_Silent_p.I24I|ZNF576_ENST00000529930.1_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000336564.4_5'Flank|IRGQ_ENST00000601520.1_5'Flank|ZNF576_ENST00000533118.1_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			Somatic				IRGQ_ENST00000602269.1_Silent_p.I24I	p.I24I	NM_001007561.2	NP_001007562.1	WXS	Illumina GAIIx	Phase_I	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	18	47	---	---	---	---	A	44099419	G	A	44099419	2	1	108	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	29	5214										
SLC6A16	28968	broad.mit.edu	37	chr19	49797195	49797195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	ccccatggccagcaacatcaGgaagaagataaaagaccaga	9	11	1	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.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			Somatic				SLC6A16_ENST00000335875.4_Silent_p.L503L	p.L503L			WXS	Illumina GAIIx	Phase_I	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	33	54	---	---	---	---	A	49797195	G	A	49797195	2	1	108	1	0	0	0	0	0	0	0	1	14679	991	35	2		2	SLC6A16	19	49797195	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	5697776	49797195	9331788	30	5215										
C22orf23	84645	broad.mit.edu	37	chr22	38340508	38340508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	gccaggaattctttcctctcCtggatttccttcaccactgg	7	14	3	0	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_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_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			Somatic				C22orf23_ENST00000403026.1_Silent_p.Q166Q|C22orf23_ENST00000403305.1_Silent_p.Q166Q	p.Q166Q			WXS	Illumina GAIIx	Phase_I	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	3	45	---	---	---	---	T	38340508	C	T	38340508	2	4	108	1	0	0	0	0	0	0	0	1	2137	680	24	2		2	C22orf23	22	38340508	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		38340508	12964058	31	5216										
CXorf23	256643	broad.mit.edu	37	chrX	19984249	19984249	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.09375	3	1	0.852352119236143	2.69911504424779	0.359882005899705	1	1	0	cttcagagcctcttctagttGactgggagtatttttcttct	8	9	5	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.chrX:19984249G>A	ENST00000379682.4	-	2	593	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379687.3_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		Somatic				CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L	p.S187L	NM_198279.3	NP_938020.2	WXS	Illumina GAIIx	Phase_I	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	27	7	---	---	---	---	A	19984249	G	A	19984249	3	1	108	1	0	0	0	0	1	0	0	0	4103	1294	45	2	1528	2	CXorf23	23	19984249	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		19984249	135286311	32	5217										
GRHL3	57822	broad.mit.edu	37	chr1	24669481	24669481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	acccgtgctgttcatccccaAtgtgcacttctccagcctgc	7	17	2	0	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_ENST00000361548.4_Missense_Mutation_p.N462S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S	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		Somatic				GRHL3_ENST00000236255.4_Missense_Mutation_p.N467S|GRHL3_ENST00000356046.2_Missense_Mutation_p.N416S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N369S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N462S	p.N462S	NM_198173.2	NP_937816.1	WXS	Illumina GAIIx	Phase_I	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	4	203	---	---	---	---	G	24669481	A	G	24669481	3	3	109	1	0	0	0	0	1	0	0	0	6765	101	4	2	1463	2	GRHL3	1	24669481	Missense_Mutation	SNP	A	TCGA-EJ-A6RA-01A-11D-A33T-08		24669481	224581140	1	5218										
FMO4	2329	broad.mit.edu	37	chr1	171301877	171301877	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	agtactagaactggtacctgGgttcttgggcgctcttcaga	12	9	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.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		Somatic				FMO4_ENST00000462992.1_3'UTR	p.W219C	NM_002022.1	NP_002013.1	WXS	Illumina GAIIx	Phase_I	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	8	113	---	---	---	---	C	171301877	G	C	171301877	3	2	109	1	0	0	0	0	1	0	0	0	5957	1241	43	4	675	4	FMO4	1	171301877	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08	146632396	171301877	77948744	2	5219										
TFCP2L1	29842	broad.mit.edu	37	chr2	122038720	122038720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	gttgaggtaggtcagcgtctCttcatgcagcttcacggctg	13	10	4	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.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		Somatic					p.E64Q	NM_014553.2	NP_055368.1	WXS	Illumina GAIIx	Phase_I	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	7	95	---	---	---	---	G	122038720	C	G	122038720	3	3	109	1	0	0	0	0	1	0	0	0	15793	922	32	4	1305	4	TFCP2L1	2	122038720	Missense_Mutation	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		122038720	121160653	3	5220										
SNTN	132203	broad.mit.edu	37	chr3	63638399	63638399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	cacagtacccaggacaaatcTctccacttggaaggagatcc	8	13	1	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.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			Somatic				SNTN_ENST00000343837.3_Silent_p.S12S	p.S8S			WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	C	63638399	T	C	63638399	2	2	109	1	0	0	0	0	0	0	0	1	14876	1538	54	2		2	SNTN	3	63638399	Silent	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		63638399	134384031	4	5221										
SEC31A	22872	broad.mit.edu	37	chr4	83788357	83788357	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	ctgtgctacctcccatgataGaataaacactgatacgccca	6	13	0	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.chr4:83788357G>C	ENST00000395310.2	-	9	1177	c.995C>G	c.(994-996)tCt>tGt	p.S332C	SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000432794.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C	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		Somatic				SEC31A_ENST00000311785.7_Missense_Mutation_p.S332C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S332C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S332C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S332C|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Missense_Mutation_p.S327C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S332C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S332C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S332C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S332C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S332C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S332C|SEC31A_ENST00000264405.5_Missense_Mutation_p.S104C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S332C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S332C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S332C	p.S332C			WXS	Illumina GAIIx	Phase_I	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	3	81	---	---	---	---	C	83788357	G	C	83788357	3	2	109	1	0	0	0	0	1	0	0	0	13998	942	33	4	2743	4	SEC31A	4	83788357	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		83788357	107365919	5	5222										
KIAA1109	84162	broad.mit.edu	37	chr4	123202796	123202796	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	aatgaatttcctcagctaccAgaaggcttagaaaagaagcc	8	9	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.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			Somatic				KIAA1109_ENST00000455637.1_Silent_p.P2968P|KIAA1109_ENST00000388738.3_Silent_p.P2968P	p.P2968P			WXS	Illumina GAIIx	Phase_I	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	6	90	---	---	---	---	G	123202796	A	G	123202796	2	3	109	1	0	0	0	0	0	0	0	1	8208	175	7	2		2	KIAA1109	4	123202796	Silent	SNP	A	TCGA-EJ-A6RA-01A-11D-A33T-08	39414439	123202796	67951480	6	5223										
MAN2A1	4124	broad.mit.edu	37	chr5	109200789	109200789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	gatcctccacagaaaagggtTtgattgtcggttctctagca	10	9	1	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.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		Somatic				MAN2A1_ENST00000505313.1_3'UTR	p.F1075C	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	G	109200789	T	G	109200789	3	3	109	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	7	5224			1	13		2	2	13	T		5.426909e-06
MAN2A1	4124	broad.mit.edu	37	chr5	109200801	109200801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	aaaagggtttgattgtcggtTctctagcaaaggcacagggc	13	7	1	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.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		Somatic				MAN2A1_ENST00000505313.1_3'UTR	p.F1079S	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	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	4	52	---	---	---	---	C	109200801	T	C	109200801	3	2	109	1	0	0	0	0	1	0	0	0	9214	1783	62	2	3318	2	MAN2A1	5	109200801	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08	12	109200801	71714459	8	5225			1	13		2	2	13	T		5.426909e-06
MUT	4594	broad.mit.edu	37	chr6	49412360	49412360	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	atatatcttcaccttgcccgAgatgcatccactgcaagagc	7	13	2	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.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			Somatic					p.S556S	NM_000255.3	NP_000246.2	WXS	Illumina GAIIx	Phase_I	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	7	200	---	---	---	---	C	49412360	A	C	49412360	2	2	109	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	9	5226										
LYN	4067	broad.mit.edu	37	chr8	56860229	56860229	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	ttgtacccctatgatggcatCcacccggacgacttgtcttt	8	13	1	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.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			Somatic				LYN_ENST00000519728.1_Silent_p.I77I	p.I56I	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	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	7	123	---	---	---	---	A	56860229	C	A	56860229	2	1	109	1	0	0	0	0	0	0	0	1	9107	845	30	3		3	LYN	8	56860229	Silent	SNP	C	TCGA-EJ-A6RA-01A-11D-A33T-08		56860229	89503793	10	5227										
KIAA1429	25962	broad.mit.edu	37	chr8	95538760	95538760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	aagtcttctctgctaaatggTcaccaagtcttttaatctct	5	10	5	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.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		Somatic				KIAA1429_ENST00000421249.2_Missense_Mutation_p.D571G|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D571G	p.D571G	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	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	6	140	---	---	---	---	C	95538760	T	C	95538760	3	2	109	1	0	0	0	0	1	0	0	0	8231	1667	58	2	3848	2	KIAA1429	8	95538760	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08	38678531	95538760	50825262	11	5228										
KIF21A	55605	broad.mit.edu	37	chr12	39763969	39763969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	atagtcaaaagtaaaagcctTatctttccctaggaagacct	6	9	2	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.chr12:39763969T>G	ENST00000361418.5	-	2	154	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000361961.3_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		Somatic				KIF21A_ENST00000361961.3_Missense_Mutation_p.K47Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K47Q|KIF21A_ENST00000361418.5_Missense_Mutation_p.K47Q	p.K47Q			WXS	Illumina GAIIx	Phase_I	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	8	96	---	---	---	---	G	39763969	T	G	39763969	3	3	109	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	12	5229										
PCDH9	5101	broad.mit.edu	37	chr13	67801398	67801398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	ctttgccattcacatctgtgTccttatctgaaactgtaatt	5	10	3	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.chr13:67801398T>C	ENST00000377865.2	-	1	1309	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000544246.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000456367.1_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		Somatic				PCDH9_ENST00000456367.1_Missense_Mutation_p.D392G|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392G|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392G|PCDH9_ENST00000377865.2_Missense_Mutation_p.D392G	p.D392G	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	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	5	138	---	---	---	---	C	67801398	T	C	67801398	3	2	109	1	0	0	0	0	1	0	0	0	11518	1667	58	2	2554	2	PCDH9	13	67801398	Missense_Mutation	SNP	T	TCGA-EJ-A6RA-01A-11D-A33T-08		67801398	47368480	13	5230										
WDR76	79968	broad.mit.edu	37	chr15	44150892	44150892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	2.70408163265306	3.60544217687075	0	0.333333333333333	1	0	tactcatatttatgatgcaaGgcgattgaattccaggagaa	9	6	1	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.chr15:44150892G>A	ENST00000263795.6	+	11	1503	c.1433G>A	c.(1432-1434)aGg>aAg	p.R478K	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.R414K	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	A	44150892	G	A	44150892	3	1	109	1	0	0	0	0	1	0	0	0	17323	1000	35	2	1475	2	WDR76	15	44150892	Missense_Mutation	SNP	G	TCGA-EJ-A6RA-01A-11D-A33T-08		44150892	58380500	14	5231										
SLC45A1	50651	broad.mit.edu	37	chr1	8390957	8390957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	gcagccggaggagggggtccCgaaaccagcaggagaaggaa	18	9	0	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.chr1:8390957C>T	ENST00000471889.1	+	5	1789	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	SLC45A1_ENST00000481265.1_3'UTR|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.P502P|SLC45A1_ENST00000289877.8_Silent_p.P468P			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			Somatic				SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.P502P|SLC45A1_ENST00000289877.8_Silent_p.P468P	p.P468P			WXS	Illumina GAIIx	Phase_I	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	5	97	---	---	---	---	T	8390957	C	T	8390957	2	4	110	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	5232										
C1orf127	148345	broad.mit.edu	37	chr1	11015082	11015082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	cccggccgccggaatgctgaCcaccacaaagtccttgttct	9	16	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.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		Somatic				C1orf127_ENST00000377008.4_Missense_Mutation_p.V147F	p.V314F	NM_001170754.1	NP_001164225.1	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	A	11015082	C	A	11015082	3	1	110	1	0	0	0	0	1	0	0	0	1994	507	18	3	1547	3	C1orf127	1	11015082	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	2624125	11015082	238235539	2	5233										
XIRP2	129446	broad.mit.edu	37	chr2	168099562	168099562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	aaaacacaaatgacagttctCaaaaagatctgaactcagaa	5	8	3	4	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_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E	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		Somatic				XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E	p.Q554E	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	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	5	49	---	---	---	---	G	168099562	C	G	168099562	3	3	110	1	0	0	0	0	1	0	0	0	17427	827	29	4	1690	4	XIRP2	2	168099562	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		168099562	75099811	3	5234										
CCDC141	285025	broad.mit.edu	37	chr2	179730612	179730612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	caaggagctccagctgctgcTgtaggttctttgcagaaaca	11	10	1	1	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		Somatic				CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	p.Q869R	NM_173648.3	NP_775919.3	WXS	Illumina GAIIx	Phase_I	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	6	173	---	---	---	---	C	179730612	T	C	179730612	3	2	110	1	0	0	0	0	1	0	0	0	2775	1580	55	2	1774	2	CCDC141	2	179730612	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	11631050	179730612	63468761	4	5235										
TEX264	51368	broad.mit.edu	37	chr3	51708534	51708534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	ctgagagctgcagcatctctCccaagctccgctccatcgct	8	17	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.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_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_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		Somatic				TEX264_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S	p.P72S			WXS	Illumina GAIIx	Phase_I	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	5	39	---	---	---	---	T	51708534	C	T	51708534	3	4	110	1	0	0	0	0	1	0	0	0	15780	855	30	2	216	2	TEX264	3	51708534	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		51708534	146313896	5	5236										
RYBP	23429	broad.mit.edu	37	chr3	72428576	72428576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	gctgagaattgatccgaggtTttctgaaatgttcaaaaaat	9	5	2	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.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																																						ENST00000477973.2																			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		Somatic					p.K142N	NM_012234.5	NP_036366.3	WXS	Illumina GAIIx	Phase_I	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)						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	6	37	---	---	---	---	G	72428576	T	G	72428576	3	3	110	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	6	5237										
FAM55C	91775	broad.mit.edu	37	chr3	101520287	101520287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	agtcccctttgtgaagagcaCtgacccttcttccagctact	7	14	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.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		Somatic				NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S|NXPE3_ENST00000491511.2_Missense_Mutation_p.T101S	p.T101S			WXS	Illumina GAIIx	Phase_I					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	8	95	---	---	---	---	G	101520287	C	G	101520287	3	3	110	1	0	0	0	0	1	0	0	0	5586	565	20	4	308	4	FAM55C	3	101520287	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	29091711	101520287	96502143	7	5238										
COL4A3BP	10087	broad.mit.edu	37	chr5	74722233	74722233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	atgttgcagagtagccacttGctccagacaccagggacacc	10	13	0	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.chr5:74722233G>T	ENST00000405807.4	-	4	840	c.419C>A	c.(418-420)gCa>gAa	p.A140E	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.A268E	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		Somatic				COL4A3BP_ENST00000405807.4_Missense_Mutation_p.A140E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	p.A268E	NM_001130105.1	NP_001123577.1	WXS	Illumina GAIIx	Phase_I	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	5	77	---	---	---	---	T	74722233	G	T	74722233	3	4	110	1	0	0	0	0	1	0	0	0	3692	1319	46	3	1511	3	COL4A3BP	5	74722233	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08		74722233	106193027	8	5239										
PPP1R10	5514	broad.mit.edu	37	chr6	30571928	30571928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	acccagggcaccttctcctcCatgttatcatggctcagacg	8	15	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.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		Somatic					p.M455I	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	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	6	144	---	---	---	---	A	30571928	C	A	30571928	3	1	110	1	0	0	0	0	1	0	0	0	12352	594	21	1	1485	1	PPP1R10	6	30571928	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		30571928	140543139	9	5240										
KIAA1586	57691	broad.mit.edu	37	chr6	56918134	56918134	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	caggaaaaaaatggagaggtAaattgtttaaatacacgtta	9	3	0	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.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			Somatic				KIAA1586_ENST00000545356.1_Silent_p.V252V	p.V279V	NM_020931.2	NP_065982.1	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	G	56918134	A	G	56918134	2	3	110	1	0	0	0	0	0	0	0	1	8245	349	13	2		2	KIAA1586	6	56918134	Silent	SNP	A	TCGA-EJ-A6RC-01A-11D-A32B-08	26346206	56918134	114196933	10	5241										
KIAA1009	22832	broad.mit.edu	37	chr6	84896094	84896094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	taatgatgaagaattaacagTtatttttttcctcaaaatat	4	4	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.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		Somatic				KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A	p.T453A	NM_014895.2	NP_055710.2	WXS	Illumina GAIIx	Phase_I	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	5	72	---	---	---	---	C	84896094	T	C	84896094	3	2	110	1	0	0	0	0	1	0	0	0	8203	1725	60	2	2918	2	KIAA1009	6	84896094	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08	27977960	84896094	86218973	11	5242										
CSMD1	64478	broad.mit.edu	37	chr8	3263667	3263667	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	cagtggaaagaaaccgagctCccgagtagaaacctgtcacc	10	12	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.chr8:3263667C>T	ENST00000520002.1	-	16	2706	c.2151G>A	c.(2149-2151)ggG>ggA	p.G717G	CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000400186.3_Silent_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			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			Somatic				CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000400186.3_Silent_p.G717G|CSMD1_ENST00000542608.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000602557.1_Silent_p.G717G	p.G717G			WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	3263667	C	T	3263667	2	4	110	1	0	0	0	0	0	0	0	1	3944	842	30	2		2	CSMD1	8	3263667	Silent	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		3263667	143100355	12	5243										
DCAF4L2	138009	broad.mit.edu	37	chr8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	ctgtactgaaagagtgatacGcgtggatgctcagggaccag	14	8	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.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		Somatic					p.A196V	NM_152418.3	NP_689631.1	WXS	Illumina GAIIx	Phase_I	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	5	108	---	---	---	---	A	88885613	G	A	88885613	3	1	110	1	0	0	0	0	1	0	0	0	4272	1087	38	2	604	2	DCAF4L2	8	88885613	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	85621946	88885613	57478409	13	5244										
UBQLN1	29979	broad.mit.edu	37	chr9	86293436	86293436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	attatatccccctgggatgcTttctaggttgctcaaagctc	8	11	2	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.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		Somatic				UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	WXS	Illumina GAIIx	Phase_I	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	12	417	---	---	---	---	G	86293436	T	G	86293436	3	3	110	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	14	5245										
JMJD1C	221037	broad.mit.edu	37	chr10	64936221	64936221	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	tggtagaacttcaaggccttGttcttttgaaatctgaaata	8	6	3	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.chr10:64936221G>A	ENST00000399262.2	-	24	7455	c.7237C>T	c.(7237-7239)Caa>Taa	p.Q2413*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR	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*		Somatic				JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*	p.Q2413*	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	A	64936221	G	A	64936221	4	1	110	1	0	0	0	0	0	1	0	0	7950	1386	48	2	397	2	JMJD1C	10	64936221	Nonsense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08		64936221	70598526	15	5246										
NAT10	55226	broad.mit.edu	37	chr11	34162694	34162694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	ggaccagctggaaaaggagaTtgagctgccctcgggccagt	15	10	0	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.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		Somatic				NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	p.I884T	NM_024662.2	NP_078938	WXS	Illumina GAIIx	Phase_I	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	7	210	---	---	---	---	C	34162694	T	C	34162694	3	2	110	1	0	0	0	0	1	0	0	0	10174	1493	52	2	2745	2	NAT10	11	34162694	Missense_Mutation	SNP	T	TCGA-EJ-A6RC-01A-11D-A32B-08		34162694	100843822	16	5247										
ATF7IP	55729	broad.mit.edu	37	chr12	14613530	14613530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	tcacagcaacgtcagttcttCctgcacccaatacagctact	5	15	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.chr12:14613530C>T	ENST00000540793.1	+	8	2415	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P762S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S			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		Somatic				ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P754S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000541654.1_3'UTR	p.P762S			WXS	Illumina GAIIx	Phase_I	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	15	105	---	---	---	---	T	14613530	C	T	14613530	3	4	110	1	0	0	0	0	1	0	0	0	1087	855	30	2	2290	2	ATF7IP	12	14613530	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		14613530	119238365	17	5248										
SACS	26278	broad.mit.edu	37	chr13	23905654	23905654	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	attgcatcctagcatagcaaTtaaatatgaagtgtcagaaa	7	6	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.chr13:23905654T>G	ENST00000382292.3	-	9	12634	c.12361A>C	c.(12361-12363)Att>Ctt	p.I4121L	SACS_ENST00000402364.1_Missense_Mutation_p.I3371L|SACS_ENST00000382298.3_Missense_Mutation_p.I4121L			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		Somatic				SACS_ENST00000402364.1_Missense_Mutation_p.I3371L|SACS_ENST00000382292.3_Missense_Mutation_p.I4121L	p.I4121L	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	G	23905654	T	G	23905654	3	3	110	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	18	5249										
MYO16	23026	broad.mit.edu	37	chr13	109365050	109365050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	gggcagacccccacaccctcGtctcctcgggagggtccctg	12	18	1	1	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_ENST00000356711.2_Missense_Mutation_p.V90I|MYO16_ENST00000251041.5_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		Somatic				MYO16_ENST00000357550.2_Missense_Mutation_p.V90I|MYO16_ENST00000251041.5_Missense_Mutation_p.V90I	p.V90I	NM_015011.1	NP_055826.1	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	A	109365050	G	A	109365050	3	1	110	1	0	0	0	0	1	0	0	0	10064	1145	40	2	274	2	MYO16	13	109365050	Missense_Mutation	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08	85459396	109365050	5804828	19	5250										
DNAH3	55567	broad.mit.edu	37	chr16	21170750	21170750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	cagtgtgagctcgaggcgccCtgtagctcccatcccccaac	10	17	0	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_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000572258.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R	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		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron	p.G5R	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	T	21170750	C	T	21170750	3	4	110	1	0	0	0	0	1	0	0	0	4603	681	24	2	12584	2	DNAH3	16	21170750	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		21170750	69184003	20	5251										
SALL1	6299	broad.mit.edu	37	chr16	51173693	51173693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	gtcatcaaaatttttctcatCaaaggaacctgtgtcagact	6	9	5	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.chr16:51173693C>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		Somatic				SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D814N|SALL1_ENST00000566102.1_Intron	p.D717N	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	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	8	175	---	---	---	---	T	51173693	C	T	51173693	3	4	110	1	0	0	0	0	1	0	0	0	13810	826	29	2	1542	2	SALL1	16	51173693	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08	30002943	51173693	39181060	21	5252										
ACE	1636	broad.mit.edu	37	chr17	61566347	61566347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	gaggtctatgtacgagacacCatccctggagcaagacctgg	12	11	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.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_ENST00000490216.2_Missense_Mutation_p.P258L|ACE_ENST00000577647.1_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000290863.6_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		Somatic				ACE_ENST00000290866.4_Missense_Mutation_p.P832L|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Missense_Mutation_p.P258L	p.P258L			WXS	Illumina GAIIx	Phase_I	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	8	31	---	---	---	---	T	61566347	C	T	61566347	3	4	110	1	0	0	0	0	1	0	0	0	136	594	21	2	2764	2	ACE	17	61566347	Missense_Mutation	SNP	C	TCGA-EJ-A6RC-01A-11D-A32B-08		61566347	19628863	22	5253										
SFRS14	10147	broad.mit.edu	37	chr19	19120892	19120892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.01841820151679	3.30985915492958	0.60179257362356	1	1	0	cagcctggtgcctgaggataGgagggtctgggtcccggtgg	19	9	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_ENST00000456085.2_Silent_p.L473L|SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000337018.6_Silent_p.L704L			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			Somatic				SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L	p.L704L			WXS	Illumina GAIIx	Phase_I	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	5	70	---	---	---	---	A	19120892	G	A	19120892	2	1	110	1	0	0	0	0	0	0	0	1	14170	991	35	2		2	SFRS14	19	19120892	Silent	SNP	G	TCGA-EJ-A6RC-01A-11D-A32B-08		19120892	40008091	23	5254										
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630134	43630136	+	In_Frame_Del	DEL	TCT	TCT	-													0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	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)aagatg>atg		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		Somatic				EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.K300del	p.K355del	NM_001159936.1	NP_001153408.1	WXS	Illumina GAIIx	Phase_I	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	111	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	5255										
TNN	63923	broad.mit.edu	37	chr1	175049544	175049544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	aagtttctagcagcccacagCatctacttgccaccacaggt	7	14	2	0	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		Somatic					p.H344Y	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	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	4	53	---	---	---	---	T	175049544	C	T	175049544	3	4	111	1	0	0	0	0	1	0	0	0	16320	710	25	2	1040	2	TNN	1	175049544	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	131419410	175049544	74201077	2	5256										
RGPD4	285190	broad.mit.edu	37	chr2	108487522	108487522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	agcaaacacttccggtgactTtgagaaagatgatgatgcct	10	8	0	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.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		Somatic				RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S	p.F1021S	NM_182588.2	NP_872394.2	WXS	Illumina GAIIx	Phase_I	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	4	264	---	---	---	---	C	108487522	T	C	108487522	3	2	111	1	0	0	0	0	1	0	0	0	13288	1841	64	2	3140	2	RGPD4	2	108487522	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		108487522	134711851	3	5257										
MAP2	4133	broad.mit.edu	37	chr2	210588329	210588329	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	ttccttttaggttaggatttTaaacaagaagatcgatttta	7	4	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.chr2:210588329T>A	ENST00000360351.4	+	13	5579				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Nonsense_Mutation_p.L396*|RNA5SP118_ENST00000410385.1_RNA	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			Somatic				MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000360351.4_Intron	p.L396*	NM_001039538.1	NP_001034627.1	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	A	210588329	T	A	210588329	1	1	111	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	5258										
CHL1	10752	broad.mit.edu	37	chr3	419627	419627	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	actcaagtaactgttcttggTaagtgcactaactaatgaga	8	7	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.chr3:419627T>C	ENST00000256509.2	+	16	2518		c.e16+2		CHL1_ENST00000397491.2_Splice_Site|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						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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	C	419627	T	C	419627	5	2	111	1	0	0	0	0	0	0	1	0	3349	1652	57	2	1932	2	CHL1	3	419627	Splice_Site	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		419627	197602803	5	5259										
ANK2	287	broad.mit.edu	37	chr4	114278436	114278436	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	aaacatttgagaacttaccaAaggactgcccctctcaagac	6	12	1	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_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_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*		Somatic				ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	p.K2888*	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	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	4	113	---	---	---	---	T	114278436	A	T	114278436	4	4	111	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		114278436	76875840	6	5260										
PCDHA6	56142	broad.mit.edu	37	chr5	140209758	140209758	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	ggcccagaggcggcgctggtGgatgtcaacgtgtacctgat	16	10	1	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.chr5:140209758G>T	ENST00000529310.1	+	1	2196	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_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	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	56142							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			Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.V694V	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	WXS	Illumina GAIIx	Phase_I			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	5	112	---	---	---	---	T	140209758	G	T	140209758	2	4	111	1	0	0	0	0	0	0	0	1	11528	1335	47	1		1	PCDHA6	5	140209758	Silent	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08		140209758	40705502	7	5261										
CDSN	170679	broad.mit.edu	37	chr6	31084574	31084574	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	ctggaaggccaccattgctaCaggggggaccttgaaccact	12	12	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.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			Somatic				PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	p.C273Y	NM_001264.4	NP_001255	WXS	Illumina GAIIx	Phase_I	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	11	31	---	---	---	---	T	31084574	C	T	31084574	1	4	111	0	1	0	0	0	0	0	0	0	3179	478	17	2		2	CDSN	6	31084574	Intron	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		31084574	140030493	8	5262										
UTRN	7402	broad.mit.edu	37	chr6	144768388	144768388	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	accgaaaaagaagaggctttAaataaagtccagacaagcaa	8	7	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.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		Somatic					p.L552F	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	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	14	20	---	---	---	---	C	144768388	A	C	144768388	3	2	111	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	9	5263										
CSMD1	64478	broad.mit.edu	37	chr8	3611520	3611520	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	tgaaatggagtcgtagccaaTtcttgctactgataactgga	10	7	1	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.chr8:3611520T>A	ENST00000520002.1	-	6	1418	c.863A>T	c.(862-864)aAt>aTt	p.N288I	CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_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		Somatic				CSMD1_ENST00000537824.1_Missense_Mutation_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	p.N288I			WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	3611520	T	A	3611520	3	1	111	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	10	5264										
FAM111B	374393	broad.mit.edu	37	chr11	58893556	58893556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	aatgcatctggcaaattggtTgctttgcatacctttgggct	10	8	1	0			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			Somatic				FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V	p.V662V	NM_198947.3	NP_945185.1	WXS	Illumina GAIIx	Phase_I	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	10	96	---	---	---	---	C	58893556	T	C	58893556	2	2	111	1	0	0	0	0	0	0	0	1	5400	1799	63	2		2	FAM111B	11	58893556	Silent	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08		58893556	76112960	11	5265										
RSF1	51773	broad.mit.edu	37	chr11	77412452	77412452	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	agtactctttggaacttcttCtggtattggactcaatcttt	7	8	5	0			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_ENST00000360355.2_Missense_Mutation_p.E577Q|RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q			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		Somatic				RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q	p.E608Q			WXS	Illumina GAIIx	Phase_I	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	33	64	---	---	---	---	G	77412452	C	G	77412452	3	3	111	1	0	0	0	0	1	0	0	0	13699	922	32	4	2547	4	RSF1	11	77412452	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	18518896	77412452	57594064	12	5266										
HTR3B	9177	broad.mit.edu	37	chr11	113813797	113813797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	acctggggagcttctacctgCcacccaactgccgagccagg	11	16	1	0			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		Somatic				HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S	p.P264S	NM_006028.4	NP_006019.1	WXS	Illumina GAIIx	Phase_I	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	16	23	---	---	---	---	T	113813797	C	T	113813797	3	4	111	1	0	0	0	0	1	0	0	0	7445	739	26	2	816	2	HTR3B	11	113813797	Missense_Mutation	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08	36401345	113813797	21192719	13	5267										
FLRT2	23768	broad.mit.edu	37	chr14	86089586	86089586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	gggcgctacacctcccagaaGtggaaatacaaccggggccg	13	13	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.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		Somatic				FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N	p.K576N	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	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	4	100	---	---	---	---	T	86089586	G	T	86089586	3	4	111	1	0	0	0	0	1	0	0	0	5939	1020	36	3	1730	3	FLRT2	14	86089586	Missense_Mutation	SNP	G	TCGA-EJ-A7NF-01A-11D-A33T-08		86089586	21259954	14	5268										
PACS2	23241	broad.mit.edu	37	chr14	105818794	105818794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	gacagacctggccctgacctTctccttgcaggtgagtcttt	10	13	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.chr14:105818794T>C	ENST00000325438.8	+	3	791	c.287T>C	c.(286-288)tTc>tCc	p.F96S	PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S|PACS2_ENST00000447393.1_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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	17	47	---	---	---	---	C	105818794	T	C	105818794	3	2	111	1	0	0	0	0	1	0	0	0	11373	1783	62	2	297	2	PACS2	14	105818794	Missense_Mutation	SNP	T	TCGA-EJ-A7NF-01A-11D-A33T-08	19729208	105818794	1530746	15	5269										
CTDSPL2	51496	broad.mit.edu	37	chr15	44783110	44783110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	ctaatggagcagcttactcaAatcaagcagttcaagtgaga	9	8	3	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.chr15:44783110A>G	ENST00000260327.4	+	5	1167	c.604A>G	c.(604-606)Aat>Gat	p.N202D	CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|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		Somatic				CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D	p.N202D	NM_016396.2	NP_057480.2	WXS	Illumina GAIIx	Phase_I	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	27	57	---	---	---	---	G	44783110	A	G	44783110	3	3	111	1	0	0	0	0	1	0	0	0	4006	14	1	2	618	2	CTDSPL2	15	44783110	Missense_Mutation	SNP	A	TCGA-EJ-A7NF-01A-11D-A33T-08		44783110	57748282	16	5270										
ARL16	339231	broad.mit.edu	37	chr17	79650772	79650772	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	ccgacgcccgtggcccccagCaggagacacattccgtgctt	11	17	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.chr17:79650772C>G	ENST00000397498.4	-	1	182	c.84G>C	c.(82-84)ctG>ctC	p.L28L	ARL16_ENST00000576135.1_5'Flank|HGS_ENST00000329138.4_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			Somatic					p.L28L	NM_001040025.1	NP_001035114.1	WXS	Illumina GAIIx	Phase_I	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	4	9	---	---	---	---	G	79650772	C	G	79650772	2	3	111	1	0	0	0	0	0	0	0	1	932	697	25	4		4	ARL16	17	79650772	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		79650772	1544438	17	5271										
KCNG2	26251	broad.mit.edu	37	chr18	77659468	77659468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	cgcgagctgggcgcgcgccgCgacttctccagcgtgcccgc	15	18	1	0			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			Somatic				KCNG2_ENST00000590307.1_3'UTR	p.R351R	NM_012283.1	NP_036415.1	WXS	Illumina GAIIx	Phase_I	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	8	17	---	---	---	---	T	77659468	C	T	77659468	2	4	111	1	0	0	0	0	0	0	0	1	8028	755	27	2		2	KCNG2	18	77659468	Silent	SNP	C	TCGA-EJ-A7NF-01A-11D-A33T-08		77659468	417780	18	5272										
ERGIC3	51614	broad.mit.edu	37	chr20	34143849	34143849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.35507246376812	4.06521739130435	0	1	1	0	acctgtcatttggggaggacTatccaggcattgtgaacccc	11	11	1	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.chr20:34143849T>A	ENST00000348547.2	+	9	840	c.763T>A	c.(763-765)Tat>Aat	p.Y255N	ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000357394.4_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		Somatic				ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N|ERGIC3_ENST00000482338.1_3'UTR	p.Y255N	NM_015966.2	NP_057050.1	WXS	Illumina GAIIx	Phase_I	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	43	98	---	---	---	---	A	34143849	T	A	34143849	3	1	111	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	19	5273										
CHUK	1147	broad.mit.edu	37	chr10	101960457	101960457	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcaagtctccctgacgtctTccataggggctcttctgtag	9	12	5	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.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			Somatic					p.G550G	NM_001278.3	NP_001269.3	WXS	Illumina GAIIx	Phase_I	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	3	61	---	---	---	---	C	101960457	T	C	101960457	2	2	112	1	0	0	0	0	0	0	0	1	3416	1770	62	2		2	CHUK	10	101960457	Silent	SNP	T	TCGA-EJ-A7NG-01A-31D-A33T-08		101960457	33574290	1	5274										
DNAH2	146754	broad.mit.edu	37	chr17	7734509	7734509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacccccctgaggcctttggCcagcaccccaatgctgatgt	10	16	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.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			Somatic				DNAH2_ENST00000389173.2_Silent_p.G4112G	p.G4112G			WXS	Illumina GAIIx	Phase_I	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	4	218	---	---	---	---	T	7734509	C	T	7734509	2	4	112	1	0	0	0	0	0	0	0	1	4602	726	26	2		2	DNAH2	17	7734509	Silent	SNP	C	TCGA-EJ-A7NG-01A-31D-A33T-08		7734509	73460701	2	5275										
SLC35F3	148641	broad.mit.edu	37	chr1	234444947	234444947	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	ggacactcacaaactacctgTacttacatgcaataaagaaa	5	10	1	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.chr1:234444947T>G	ENST00000366617.3	+	3	730	c.502T>G	c.(502-504)Tac>Gac	p.Y168D	SLC35F3_ENST00000366618.3_Missense_Mutation_p.Y237D|MIR4671_ENST00000583284.1_RNA			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		Somatic				SLC35F3_ENST00000366617.3_Missense_Mutation_p.Y168D	p.Y237D	NM_173508.2	NP_775779.1	WXS	Illumina GAIIx	Phase_I	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	8	118	---	---	---	---	G	234444947	T	G	234444947	3	3	113	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	5276										
ABHD14A	25864	broad.mit.edu	37	chr3	52012035	52012035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	caatgtcacagtcctggctgGtctcacccctggcaactcgc	9	16	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		Somatic				ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.G73V|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Missense_Mutation_p.G73V|ABHD14A_ENST00000273596.3_Missense_Mutation_p.G73V	p.V25F			WXS	Illumina GAIIx	Phase_I	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	11	38	---	---	---	---	T	52012035	G	T	52012035	3	4	113	1	0	0	0	0	1	0	0	0	79	1261	44	3	224	3	ABHD14A	3	52012035	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		52012035	146010395	2	5277										
ZBTB12	221527	broad.mit.edu	37	chr6	31868519	31868519	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	tcggctttcagctccaagtcTtcatccagtgggaactccag	9	13	3	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.chr6:31868519T>C	ENST00000375527.2	-	2	739	c.564A>G	c.(562-564)gaA>gaG	p.E188E	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	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			Somatic				C2_ENST00000469372.1_Intron	p.E188E	NM_181842.2	NP_862825.1	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	C	31868519	T	C	31868519	2	2	113	1	0	0	0	0	0	0	0	1	17522	1606	56	2		2	ZBTB12	6	31868519	Silent	SNP	T	TCGA-EJ-A7NH-01A-12D-A33T-08		31868519	139246548	3	5278										
COX7A2	1347	broad.mit.edu	37	chr6	75950898	75950898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	aaatacttcagtacctggaaCagtttttgcttctccggaac	7	10	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.chr6:75950898C>T	ENST00000230459.4	-	2	295	c.102G>A	c.(100-102)ctG>ctA	p.L34L	COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000370081.2_Silent_p.L66L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000370089.2_Silent_p.L66L	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			Somatic				COX7A2_ENST00000472311.2_Silent_p.L34L|COX7A2_ENST00000370089.2_Silent_p.L66L|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.L34L|COX7A2_ENST00000230459.4_Silent_p.L34L	p.L66L			WXS	Illumina GAIIx	Phase_I	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	15	130	---	---	---	---	T	75950898	C	T	75950898	2	4	113	1	0	0	0	0	0	0	0	1	3780	465	17	2		2	COX7A2	6	75950898	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	44082379	75950898	95164169	4	5279										
TBX18	9096	broad.mit.edu	37	chr6	85446895	85446895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	ggggcaaaggtctcaccagcCtggttggtgagcctgttgta	15	9	1	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.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			Somatic				TBX18_ENST00000606784.1_Intron	p.Q444Q	NM_001080508.1	NP_001073977.1	WXS	Illumina GAIIx	Phase_I	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	12	60	---	---	---	---	T	85446895	C	T	85446895	2	4	113	1	0	0	0	0	0	0	0	1	15650	680	24	2		2	TBX18	6	85446895	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08	9495997	85446895	85668172	5	5280										
DGKI	9162	broad.mit.edu	37	chr7	137237167	137237167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	gctcttctgtaccatgttggCctgattcctcagggagatcc	10	12	3	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.chr7:137237167C>T	ENST00000288490.5	-	20	2095	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000453654.2_Missense_Mutation_p.A399T	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																																						ENST00000453654.2																			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.(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		Somatic				DGKI_ENST00000424189.2_Missense_Mutation_p.A699T|DGKI_ENST00000446122.1_Missense_Mutation_p.A699T|DGKI_ENST00000288490.5_Missense_Mutation_p.A699T	p.A399T			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			20	1734	-						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	26	93	---	---	---	---	T	137237167	C	T	137237167	3	4	113	1	0	0	0	0	1	0	0	0	4471	739	26	2	1162	2	DGKI	7	137237167	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		137237167	21901496	6	5281										
MLL3	58508	broad.mit.edu	37	chr7	151873585	151873585	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	tgggtttacctgcacaccctGagaaaaaacatggtttaccc	8	11	0	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.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*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2985*	p.Q2985*			WXS	Illumina GAIIx	Phase_I					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	7	44	---	---	---	---	A	151873585	G	A	151873585	4	1	113	1	0	0	0	0	0	1	0	0	9622	1299	45	2	5870	2	MLL3	7	151873585	Nonsense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08	14636418	151873585	7265078	7	5282										
TRPA1	8989	broad.mit.edu	37	chr8	72936047	72936047	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	agatagaaggaaaaatacatAccggtatttctgctttaata	7	5	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.chr8:72936047A>G	ENST00000262209.4	-	26	3357		c.e26+1		RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_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						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			Somatic				RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron		NM_007332.2	NP_015628.2	WXS	Illumina GAIIx	Phase_I	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	11	51	---	---	---	---	G	72936047	A	G	72936047	5	3	113	1	0	0	0	0	0	0	1	0	16574	405	14	2	216	2	TRPA1	8	72936047	Splice_Site	SNP	A	TCGA-EJ-A7NH-01A-12D-A33T-08		72936047	73427975	8	5283										
APBA1	320	broad.mit.edu	37	chr9	72131101	72131101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	gccagcgagatggcatcgcgCttctccttgctgtaccgctg	12	14	1	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.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			Somatic					p.K342K	NM_001163.3	NP_001154.2	WXS	Illumina GAIIx	Phase_I	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	14	56	---	---	---	---	T	72131101	C	T	72131101	2	4	113	1	0	0	0	0	0	0	0	1	756	796	28	2		2	APBA1	9	72131101	Silent	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		72131101	69082330	9	5284										
PFKM	5213	broad.mit.edu	37	chr12	48539011	48539011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	agggcggatctttgccaataCtccagattcgggctgtgttc	12	10	1	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.chr12:48539011C>T	ENST00000312352.7	+	22	2150	c.2111C>T	c.(2110-2112)aCt>aTt	p.T704I	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_ENST00000340802.6_Missense_Mutation_p.T775I	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		Somatic				PFKM_ENST00000395233.2_Missense_Mutation_p.T673I|PFKM_ENST00000551804.1_Missense_Mutation_p.T673I|PFKM_ENST00000359794.5_Missense_Mutation_p.T704I|PFKM_ENST00000312352.7_Missense_Mutation_p.T704I|PFKM_ENST00000547587.1_Missense_Mutation_p.T704I	p.T775I	NM_001166686.1	NP_001160158.1	WXS	Illumina GAIIx	Phase_I	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	14	79	---	---	---	---	T	48539011	C	T	48539011	3	4	113	1	0	0	0	0	1	0	0	0	11765	565	20	2	2414	2	PFKM	12	48539011	Missense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		48539011	85312884	10	5285										
CHD2	1106	broad.mit.edu	37	chr15	93524122	93524122	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	tctcttcaaagaactggaagGggaggaatcagaacctcagg	12	8	4	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.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		Somatic				CHD2_ENST00000557381.1_Missense_Mutation_p.G985A	p.G985A	NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	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	5	49	---	---	---	---	C	93524122	G	C	93524122	3	2	113	1	0	0	0	0	1	0	0	0	3325	1232	43	4	3044	4	CHD2	15	93524122	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		93524122	9007270	11	5286										
DLG4	1742	broad.mit.edu	37	chr17	7100327	7100327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	tgtggggtagtcggtgcccaGgtagctgctgtgactgatct	16	8	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.chr17:7100327G>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		Somatic				DLG4_ENST00000399506.2_Missense_Mutation_p.L278M|DLG4_ENST00000302955.6_Missense_Mutation_p.L275M	p.L321M	NM_001365.3	NP_001356.1	WXS	Illumina GAIIx	Phase_I	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	3	19	---	---	---	---	T	7100327	G	T	7100327	3	4	113	1	0	0	0	0	1	0	0	0	4557	991	35	1	1390	1	DLG4	17	7100327	Missense_Mutation	SNP	G	TCGA-EJ-A7NH-01A-12D-A33T-08		7100327	74094883	12	5287										
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	15	10	0	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_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	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)	Somatic				TP53_ENST00000455263.2_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_ENST00000269305.4_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	5	54	---	---	---	---	G	7578443	A	G	7578443	3	3	113	1	0	0	0	0	1	0	0	0	16378	420	15	2	811	2	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-EJ-A7NH-01A-12D-A33T-08	478116	7578443	73616767	13	5288										
EIF3L	51386	broad.mit.edu	37	chr22	38254723	38254723	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.989583333333333	0	1.31944444444444	1	1	0	ttatacaaagaattatactaCaggcacatatatgccaaagt	5	7	0	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.chr22:38254723C>G	ENST00000412331.2	+	5	993	c.411C>G	c.(409-411)taC>taG	p.Y137*	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137*	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*		Somatic				EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Y39*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Y137*	p.Y137*	NM_016091.3	NP_057175.1	WXS	Illumina GAIIx	Phase_I	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	35	167	---	---	---	---	G	38254723	C	G	38254723	4	3	113	1	0	0	0	0	0	1	0	0	5022	489	17	4	429	4	EIF3L	22	38254723	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NH-01A-12D-A33T-08		38254723	13049843	14	5289										
KCNH8	131096	broad.mit.edu	37	chr3	19492678	19492678	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	ctttccagatgaactgcgttCtgacatcactatgcacttga	7	11	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		Somatic				KCNH8_ENST00000537696.1_3'UTR	p.S536C	NM_144633.2	NP_653234.2	WXS	Illumina GAIIx	Phase_I	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	7	152	---	---	---	---	G	19492678	C	G	19492678	3	3	114	1	0	0	0	0	1	0	0	0	8038	913	32	4	1645	4	KCNH8	3	19492678	Missense_Mutation	SNP	C	TCGA-EJ-A7NJ-01A-22D-A34U-08		19492678	178529752	1	5290										
BCL6	604	broad.mit.edu	37	chr3	187446240	187446240	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	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_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_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)ccafs		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		Somatic				BCL6_ENST00000450123.2_Frame_Shift_Del_p.P483fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P483fs	p.P483fs	NM_001706.4	NP_001697.2	WXS	Illumina GAIIx	Phase_I	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	114	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	5291										
PRDM9	56979	broad.mit.edu	37	chr5	23526964	23526964	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	agggagtgtgggcggggcttTagctggcagtcagtcctcct	17	9	1	0			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)	Somatic					p.F589F	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	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	4	93	---	---	---	---	C	23526964	T	C	23526964	2	2	114	1	0	0	0	0	0	0	0	1	12463	1751	61	2		2	PRDM9	5	23526964	Silent	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		23526964	157388296	3	5292										
GPR98	84059	broad.mit.edu	37	chr5	89938713	89938713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	ccacatcatccgatcaagggGgtcccttgttaagcagtttc	9	12	2	0			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		Somatic					p.G803E	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	5	99	---	---	---	---	A	89938713	G	A	89938713	3	1	114	1	0	0	0	0	1	0	0	0	6721	1232	43	2	2458	2	GPR98	5	89938713	Missense_Mutation	SNP	G	TCGA-EJ-A7NJ-01A-22D-A34U-08	66411749	89938713	90976547	4	5293										
CUL9	23113	broad.mit.edu	37	chr6	43173002	43173002	+	Splice_Site	DEL	T	T	-													0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	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_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs	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.(4633-4635)atg>ag		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			Somatic				CUL9_ENST00000372647.2_Splice_Site_p.M1545fs|CUL9_ENST00000354495.3_Splice_Site_p.M1435fs	p.M1545fs	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			24	4718	+			1545					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	DEL	ENST00000252050.4	37	c.4634delT	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	114	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	5294										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	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_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_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)	Somatic				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	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	7	68	---	---	---	---	C	533874	T	C	533874	3	2	114	1	0	0	0	0	1	0	0	0	7348	1580	55	2	466	2	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		533874	134472642	6	5295										
SACS	26278	broad.mit.edu	37	chr13	23906843	23906852	+	Frame_Shift_Del	DEL	AAGGTCACTA	AAGGTCACTA	-													0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	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_ENST00000382298.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs			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)ggtagtgaccttfs		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		Somatic				SACS_ENST00000382292.3_Frame_Shift_Del_p.GSDL3721fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.GSDL2971fs	p.GSDL3721fs	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	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	114	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	5296										
FAM134C	162427	broad.mit.edu	37	chr17	40734812	40734812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	ggccaattccctggcaacagTagaatcgtccagcttaggaa	10	11	0	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.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		Somatic				FAM134C_ENST00000543197.1_Missense_Mutation_p.T80A|FAM134C_ENST00000585894.1_Missense_Mutation_p.T178A	p.T275A	NM_178126.3	NP_835227.1	WXS	Illumina GAIIx	Phase_I	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	8	123	---	---	---	---	C	40734812	T	C	40734812	3	2	114	1	0	0	0	0	1	0	0	0	5447	1638	57	2	585	2	FAM134C	17	40734812	Missense_Mutation	SNP	T	TCGA-EJ-A7NJ-01A-22D-A34U-08		40734812	40460398	8	5297										
SLC16A3	9123	broad.mit.edu	37	chr17	80194039	80194039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	cttcaaggagctcatacaggAgtttgggatcggctacagcg	13	9	2	0			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_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G	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		Somatic				SLC16A3_ENST00000392339.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E52G|SLC16A3_ENST00000584781.1_3'UTR	p.E52G	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	WXS	Illumina GAIIx	Phase_I	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	4	108	---	---	---	---	G	80194039	A	G	80194039	3	3	114	1	0	0	0	0	1	0	0	0	14409	304	11	2	157	2	SLC16A3	17	80194039	Missense_Mutation	SNP	A	TCGA-EJ-A7NJ-01A-22D-A34U-08	39459227	80194039	1001171	9	5298										
MAST1	22983	broad.mit.edu	37	chr19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	aggaggagcccgtggaaatcCgccagttctcttcctgctct	11	13	2	0			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		Somatic					p.R702C	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	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	4	33	---	---	---	---	T	12977541	C	T	12977541	3	4	114	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	5299										
CACNG7	59284	broad.mit.edu	37	chr19	54444804	54444804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	acaggcccagcagctctgagCagtattttcattatcgctac	8	12	2	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.chr19:54444804C>A	ENST00000391767.1	+	5	717	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K			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		Somatic				CACNG7_ENST00000222212.2_Missense_Mutation_p.Q169K|CACNG7_ENST00000391766.1_Missense_Mutation_p.Q169K|CACNG7_ENST00000468076.1_3'UTR	p.Q169K			WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	A	54444804	C	A	54444804	3	1	114	1	0	0	0	0	1	0	0	0	2562	711	25	3	519	3	CACNG7	19	54444804	Missense_Mutation	SNP	C	TCGA-EJ-A7NJ-01A-22D-A34U-08	41467263	54444804	4684179	11	5300										
UBASH3A	53347	broad.mit.edu	37	chr21	43838616	43838616	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	3.59649122807018	10.7894736842105	0	1	1	0	gcagcaggacgaagccagcgAgggctgggtgattgggatct	18	8	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	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_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		Somatic				UBASH3A_ENST00000291535.6_Missense_Mutation_p.E277V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E277V	p.E315V	NM_018961.3	NP_061834.1	WXS	Illumina GAIIx	Phase_I	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	7	86	---	---	---	---	T	43838616	A	T	43838616	3	4	114	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	5301										
CSRNP1	64651	broad.mit.edu	37	chr3	39185627	39185627	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcccagtccagccaccacaCctggcacttgatgcctgcca	7	18	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			Somatic				CSRNP1_ENST00000514182.1_Splice_Site		NM_033027.3	NP_149016.2	WXS	Illumina GAIIx	Phase_I	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	5	47	---	---	---	---	T	39185627	C	T	39185627	5	4	115	1	0	0	0	0	0	0	1	0	3963	521	18	2	996	2	CSRNP1	3	39185627	Splice_Site	SNP	C	TCGA-EJ-A7NK-01A-12D-A34U-08		39185627	158836803	1	5302										
PBRM1	55193	broad.mit.edu	37	chr3	52696223	52696223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atctgcttctcctttctgaaCaaactcatttcttgttcgaa	4	11	5	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.chr3:52696223C>A	ENST00000296302.7	-	4	455	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F	PBRM1_ENST00000356770.4_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_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		Somatic				PBRM1_ENST00000296302.7_Missense_Mutation_p.V152F|PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F	p.V152F			WXS	Illumina GAIIx	Phase_I	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	6	120	---	---	---	---	A	52696223	C	A	52696223	3	1	115	1	0	0	0	0	1	0	0	0	11491	478	17	3	4554	3	PBRM1	3	52696223	Missense_Mutation	SNP	C	TCGA-EJ-A7NK-01A-12D-A34U-08	13510596	52696223	145326207	2	5303										
SPOCD1	90853	broad.mit.edu	37	chr1	32259746	32259746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cttgcagatgtggcagttggGgtctaagaagtggtggtcat	16	5	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.chr1:32259746G>A	ENST00000360482.2	-	11	2491	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA	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		Somatic				SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR	p.P788S	NM_144569.4	NP_653170.3	WXS	Illumina GAIIx	Phase_I	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	17	36	---	---	---	---	A	32259746	G	A	32259746	3	1	116	1	0	0	0	0	1	0	0	0	15077	1232	43	2	1312	2	SPOCD1	1	32259746	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		32259746	216990875	1	5304										
C1orf177	163747	broad.mit.edu	37	chr1	55273356	55273356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ggccatcatgaaagagaagcGgctgaaggtgaggcctctgg	16	8	2	4	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		Somatic				C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q	p.R117Q	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	A	55273356	G	A	55273356	3	1	116	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	2	5305										
KCND3	3752	broad.mit.edu	37	chr1	112525243	112525243	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	aatcagctcatcctgccgctTgttcttgtcggccggggcca	11	14	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.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*		Somatic				KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*|KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*	p.K36*			WXS	Illumina GAIIx	Phase_I	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	5	51	---	---	---	---	A	112525243	T	A	112525243	4	1	116	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	57251887	112525243	136725378	3	5306										
WDR3	10885	broad.mit.edu	37	chr1	118484412	118484412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	aattgttttgtatcctttccAaaaaggaaattcagaagaaa	6	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.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																																						ENST00000349139.5																			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		Somatic					p.K311E	NM_006784.2	NP_006775.1	WXS	Illumina GAIIx	Phase_I	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)							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	11	26	---	---	---	---	G	118484412	A	G	118484412	3	3	116	1	0	0	0	0	1	0	0	0	17282	131	5	2	961	2	WDR3	1	118484412	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	5959169	118484412	130766209	4	5307										
HFE2	148738	broad.mit.edu	37	chr1	145414854	145414854	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	caactctaagcactctcactCtcctgctgctcctctgtgga	6	16	4	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.chr1:145414854C>A	ENST00000336751.5	+	2	311	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_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		Somatic				HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Intron	p.L25I	NM_213653.3	NP_998818.1	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	A	145414854	C	A	145414854	3	1	116	1	0	0	0	0	1	0	0	0	7082	913	32	3	75	3	HFE2	1	145414854	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	26930442	145414854	103835767	5	5308										
C1orf51	148523	broad.mit.edu	37	chr1	150259073	150259073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	gtcctttaggcactggaaccGgcattggcgtcattcttttc	10	11	2	0	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		Somatic				C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S|C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S	p.G289S	NM_144697.2	NP_653298.1	WXS	Illumina GAIIx	Phase_I	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	5	156	---	---	---	---	A	150259073	G	A	150259073	3	1	116	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	6	5309										
PYHIN1	149628	broad.mit.edu	37	chr1	158943542	158943542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	acacttccaccaaccgccatCcagcagttccttaaataagg	5	15	0	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.chr1:158943542C>A	ENST00000368140.1	+	8	1710	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|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		Somatic				PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron	p.P489T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	WXS	Illumina GAIIx	Phase_I	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	16	90	---	---	---	---	A	158943542	C	A	158943542	3	1	116	1	0	0	0	0	1	0	0	0	12865	855	30	3	1491	3	PYHIN1	1	158943542	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	8684469	158943542	90307079	7	5310										
FCGR2B	2213	broad.mit.edu	37	chr1	161642793	161642793	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	gtgctccagacccctcacctGgagttccaggagggagaaac	12	13	1	2	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_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.L133L|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			Somatic				FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA	p.L140L			WXS	Illumina GAIIx	Phase_I	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	4	35	---	---	---	---	T	161642793	G	T	161642793	2	4	116	1	0	0	0	0	0	0	0	1	5782	1335	47	1		1	FCGR2B	1	161642793	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	2699251	161642793	87607828	8	5311										
ACTA1	58	broad.mit.edu	37	chr1	229568848	229568848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cacacgagggcggtggtctcGtcttcgtcgcacattgtgtc	13	12	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.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		Somatic				ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	p.D5E	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	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	38	93	---	---	---	---	T	229568848	G	T	229568848	3	4	116	1	0	0	0	0	1	0	0	0	191	1136	40	3	1142	3	ACTA1	1	229568848	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	67926055	229568848	19681773	9	5312										
FAM179A	165186	broad.mit.edu	37	chr2	29247231	29247231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cctggtggtcctcacctcggCgggtgtctagtatgtggctg	15	11	2	0	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_ENST00000403861.2_Missense_Mutation_p.A560V|FAM179A_ENST00000465300.1_3'UTR	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		Somatic				FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V	p.A615V	NM_199280.2	NP_954974.2	WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	T	29247231	C	T	29247231	3	4	116	1	0	0	0	0	1	0	0	0	5505	768	27	2	1890	2	FAM179A	2	29247231	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		29247231	213952142	10	5313										
CEBPZ	10153	broad.mit.edu	37	chr2	37455178	37455178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tctcccagtttatttaccacTtgcacaagaagagccttttc	5	12	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.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		Somatic					p.Q386H	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	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	39	95	---	---	---	---	G	37455178	T	G	37455178	3	3	116	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	11	5314										
ERMN	57471	broad.mit.edu	37	chr2	158181230	158181230	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	agtttcttggagagaaagatCtgtgatagccttatgaacaa	10	5	2	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_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron	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		Somatic				ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N	p.D96N	NM_020711.1	NP_065762.1	WXS	Illumina GAIIx	Phase_I	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	9	32	---	---	---	---	T	158181230	C	T	158181230	3	4	116	1	0	0	0	0	1	0	0	0	5235	913	32	2	576	2	ERMN	2	158181230	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	120726052	158181230	85018143	12	5315										
TTN	7273	broad.mit.edu	37	chr2	179558355	179558355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cctttaggtggtggttcaacCcttttggaaatggcaacgtg	12	8	1	0	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_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R10525S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_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		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.R10525S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	A	179558355	C	A	179558355	3	1	116	1	0	0	0	0	1	0	0	0	16732	622	22	1	72930	1	TTN	2	179558355	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	21377125	179558355	63641018	13	5316										
PRSS50	29122	broad.mit.edu	37	chr3	46757061	46757061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ccacagtcagcacccactggGaggcaatgatggtgccggca	13	13	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.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		Somatic				PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F	p.S145F			WXS	Illumina GAIIx	Phase_I	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	8	22	---	---	---	---	A	46757061	G	A	46757061	3	1	116	1	0	0	0	0	1	0	0	0	12631	1174	41	2	739	2	PRSS50	3	46757061	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		46757061	151265369	14	5317										
H2AFZ	3015	broad.mit.edu	37	chr4	100870896	100870896	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cctttccagccttaccgccaGcctgcggcgcgcacacgccc	9	21	0	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.chr4:100870896G>C	ENST00000296417.5	-	2	222	c.5C>G	c.(4-6)gCt>gGt	p.A2G	RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_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.(4-6)gCt>gGt		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			Somatic				H2AFZ_ENST00000529158.1_5'UTR	p.A2G	NM_002106.3	NP_002097.1	WXS	Illumina GAIIx	Phase_I	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.5C>G	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	34	61	---	---	---	---	C	100870896	G	C	100870896	5	2	116	1	0	0	0	0	0	0	1	0	6931	985	34	4	397	4	H2AFZ	4	100870896	Splice_Site	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		100870896	90283380	15	5318										
ADCY2	108	broad.mit.edu	37	chr5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	aattaaaattttaggagactGctactactgtgtatctggac	8	6	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.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		Somatic				ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	p.C340Y	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	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	28	94	---	---	---	---	A	7698397	G	A	7698397	3	1	116	1	0	0	0	0	1	0	0	0	294	1319	46	2	1045	2	ADCY2	5	7698397	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		7698397	173216863	16	5319										
RGMB	285704	broad.mit.edu	37	chr5	98115452	98115452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ttcaaaagcctgccgtggcaAcctggtataccattctgccg	9	13	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.chr5:98115452A>G	ENST00000513185.1	+	2	741	c.305A>G	c.(304-306)aAc>aGc	p.N102S	RGMB_ENST00000308234.7_Missense_Mutation_p.N143S|RGMB_ENST00000504776.1_3'UTR			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		Somatic				RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR	p.N143S	NM_001012761.2	NP_001012779.2	WXS	Illumina GAIIx	Phase_I	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	9	38	---	---	---	---	G	98115452	A	G	98115452	3	3	116	1	0	0	0	0	1	0	0	0	13281	43	2	2	438	2	RGMB	5	98115452	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	90417055	98115452	82799808	17	5320										
MEGF10	84466	broad.mit.edu	37	chr5	126791206	126791206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tcccgaaaagctcagagtgtGgttatgtggagatgaaatcg	13	6	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.chr5:126791206G>A	ENST00000274473.6	+	25	3406	c.3139G>A	c.(3139-3141)Ggt>Agt	p.G1047S	MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S|MEGF10_ENST00000510828.1_3'UTR	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		Somatic				MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S	p.G1047S	NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	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	37	75	---	---	---	---	A	126791206	G	A	126791206	3	1	116	1	0	0	0	0	1	0	0	0	9460	1348	47	2	3229	2	MEGF10	5	126791206	Missense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	28675754	126791206	54124054	18	5321										
SLC23A1	9963	broad.mit.edu	37	chr5	138714919	138714919	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ttgatagcatgtactggaggGggtggtgcaccagccaggcg	17	8	0	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.chr5:138714919G>T	ENST00000348729.3	-	9	1096	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	SLC23A1_ENST00000353963.3_Silent_p.P354P|SLC23A1_ENST00000503919.1_5'Flank	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			Somatic				SLC23A1_ENST00000348729.3_Silent_p.P350P	p.P354P	NM_152685.3	NP_689898	WXS	Illumina GAIIx	Phase_I	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	33	60	---	---	---	---	T	138714919	G	T	138714919	2	4	116	1	0	0	0	0	0	0	0	1	14462	1219	43	1		1	SLC23A1	5	138714919	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	11923713	138714919	42200341	19	5322										
ZBTB24	9841	broad.mit.edu	37	chr6	109802616	109802616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	caatttgctcattcagtacaCcactgtctcctttaaccaca	3	14	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.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		Somatic					p.G205D	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	WXS	Illumina GAIIx	Phase_I	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	56	161	---	---	---	---	T	109802616	C	T	109802616	3	4	116	1	0	0	0	0	1	0	0	0	17528	507	18	2	1553	2	ZBTB24	6	109802616	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		109802616	61312451	20	5323										
AEBP1	165	broad.mit.edu	37	chr7	44153447	44153447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	agcgacgcctgcagcagcgaCgcctacaacaccgcctgcgg	12	17	0	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.chr7:44153447C>T	ENST00000223357.3	+	21	3369	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C|MIR4649_ENST00000582839.1_RNA	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		Somatic				AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	p.R1022C	NM_001129.3	NP_001120.3	WXS	Illumina GAIIx	Phase_I	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	19	62	---	---	---	---	T	44153447	C	T	44153447	3	4	116	1	0	0	0	0	1	0	0	0	349	536	19	2	3146	2	AEBP1	7	44153447	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		44153447	114985216	21	5324										
C9orf11	54586	broad.mit.edu	37	chr9	27291028	27291030	+	In_Frame_Del	DEL	ATT	ATT	-													0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	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_ENST00000537675.1_In_Frame_Del_p.M108del|EQTN_ENST00000484994.1_5'Flank	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)acaatg>acg		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		Somatic				EQTN_ENST00000537675.1_In_Frame_Del_p.M108del	p.M137del	NM_020641.2	NP_065692.2	WXS	Illumina GAIIx	Phase_I					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	116	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	22	5325										
ZNF462	58499	broad.mit.edu	37	chr9	109701288	109701288	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ctcaaggtccacggaaaagcCctgaccctccccaggccacg	9	18	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.chr9:109701288C>G	ENST00000277225.5	+	7	6616	c.6327C>G	c.(6325-6327)gcC>gcG	p.A2109A	ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000457913.1_Silent_p.A2169A			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			Somatic				ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000457913.1_Silent_p.A2169A	p.A2109A			WXS	Illumina GAIIx	Phase_I	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	84	183	---	---	---	---	G	109701288	C	G	109701288	2	3	116	1	0	0	0	0	0	0	0	1	17923	610	22	4		4	ZNF462	9	109701288	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	82410260	109701288	31512143	23	5326										
FGFR2	2263	broad.mit.edu	37	chr10	123325040	123325040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ccggagtctctaggcgtggcGccctttatctgcaagtactc	11	13	2	0	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_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|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			Somatic				FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G	p.G96G	NM_000141.4	NP_000132.3	WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	A	123325040	G	A	123325040	2	1	116	1	0	0	0	0	0	0	0	1	5866	1074	38	2		2	FGFR2	10	123325040	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		123325040	12209707	24	5327										
ASB8	140461	broad.mit.edu	37	chr12	48543215	48543215	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	aggcccttcactgcatcgggGagatactggagtcccaggct	13	12	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.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	140461				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			Somatic				ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.L267L	p.L267L	NM_024095.3	NP_077000.1	WXS	Illumina GAIIx	Phase_I	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	14	33	---	---	---	---	A	48543215	G	A	48543215	2	1	116	1	0	0	0	0	0	0	0	1	1029	1161	41	2		2	ASB8	12	48543215	Silent	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08		48543215	85308680	25	5328										
HOXC11	3227	broad.mit.edu	37	chr12	54369166	54369166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	gaaactgagcagagaccggcTgcagtatttctcgggaaatc	12	9	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.chr12:54369166T>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		Somatic				HOXC11_ENST00000243082.4_Silent_p.A296A	p.L295P			WXS	Illumina GAIIx	Phase_I	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	12	38	---	---	---	---	C	54369166	T	C	54369166	3	2	116	1	0	0	0	0	1	0	0	0	7310	1580	55	2	890	2	HOXC11	12	54369166	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08	5825951	54369166	79482729	26	5329										
IFT88	8100	broad.mit.edu	37	chr13	21219039	21219039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	agtggcttggagcctattacAttgacacccaattttgggaa	10	8	0	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.chr13:21219039A>G	ENST00000319980.6	+	22	2245	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000382778.4_Missense_Mutation_p.I640V|IFT88_ENST00000351808.5_Missense_Mutation_p.I631V	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		Somatic				IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000319980.6_Missense_Mutation_p.I640V	p.I640V			WXS	Illumina GAIIx	Phase_I	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	31	84	---	---	---	---	G	21219039	A	G	21219039	3	3	116	1	0	0	0	0	1	0	0	0	7566	217	8	2	1996	2	IFT88	13	21219039	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08		21219039	93950839	27	5330										
XPO4	64328	broad.mit.edu	37	chr13	21401283	21401283	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tggcttcaacagcacattttGcgaggattcaaacatagcta	8	9	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.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*		Somatic				XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255*	p.Q255*	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	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	19	44	---	---	---	---	A	21401283	G	A	21401283	4	1	116	1	0	0	0	0	0	1	0	0	17443	1328	46	2	2760	2	XPO4	13	21401283	Nonsense_Mutation	SNP	G	TCGA-EJ-A7NM-01A-21D-A33T-08	182244	21401283	93768595	28	5331										
C13orf39	196541	broad.mit.edu	37	chr13	103338687	103338687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	agttctttcacttcaggcagAtgtgctgtacattgtagtgt	10	7	3	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.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		Somatic					p.H163Q	NM_001010977.1	NP_001010977.1	WXS	Illumina GAIIx	Phase_I	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	19	42	---	---	---	---	T	103338687	A	T	103338687	3	4	116	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	29	5332										
ZFYVE1	53349	broad.mit.edu	37	chr14	73464594	73464594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	cagtgtggataaagggacatCcaggccacagcgagcagtgg	15	9	0	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.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		Somatic				ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H	p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	WXS	Illumina GAIIx	Phase_I	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	17	24	---	---	---	---	G	73464594	C	G	73464594	3	3	116	1	0	0	0	0	1	0	0	0	17660	855	30	4	1460	4	ZFYVE1	14	73464594	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		73464594	33884946	30	5333										
LOC81691	81691	broad.mit.edu	37	chr16	20855295	20855295	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	atgaagtcctagaagctgccCagctggccatagaatccttg	10	11	0	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_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron	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	81691							g.chr16:20855295C>T																												ENST00000261377.6:c.1666C>T	16.37:g.20855295C>T	ENSP00000261377:p.Gln556*		Somatic				AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron|ERI2_ENST00000564349.1_Intron	p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2	WXS	Illumina GAIIx	Phase_I					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	22	70	---	---	---	---	T	20855295	C	T	20855295	4	4	116	1	0	0	0	0	0	1	0	0	8890	595	21	2	1724	2	LOC81691	16	20855295	Nonsense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		20855295	69499458	31	5334										
KDM4B	23030	broad.mit.edu	37	chr19	5077467	5077467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tcatcctgaagaagtacgggAtccccttcagccgggtgcgt	12	12	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.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		Somatic				KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V	p.I256V	NM_015015.2	NP_055830	WXS	Illumina GAIIx	Phase_I	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	4	150	---	---	---	---	G	5077467	A	G	5077467	3	3	116	1	0	0	0	0	1	0	0	0	8129	333	12	2	788	2	KDM4B	19	5077467	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08		5077467	54051516	32	5335										
ABHD8	79575	broad.mit.edu	37	chr19	17412032	17412032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	gctgcctgcgctgccgggggCcaagcggccatcgctgcccg	16	17	0	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_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_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						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		Somatic				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A132T	NM_024527.4	NP_078803.4	WXS	Illumina GAIIx	Phase_I	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	13	19	---	---	---	---	T	17412032	C	T	17412032	3	4	116	1	0	0	0	0	1	0	0	0	87	739	26	2	941	2	ABHD8	19	17412032	Missense_Mutation	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	12334565	17412032	41716951	33	5336										
PSG7	5676	broad.mit.edu	37	chr19	43433714	43433714	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	gtagagggtcctgttggtttCagacagctgcaagctgtgag	15	7	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.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			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	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	104	253	---	---	---	---	G	43433714	C	G	43433714	1	3	116	0	1	0	0	0	0	0	0	0	12660	835	29	4		4	PSG7	19	43433714	RNA	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	26021682	43433714	15695269	34	5337										
CCDC114	93233	broad.mit.edu	37	chr19	48801473	48801473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tgcactgtcaggagctccacCagccgcttctcaatgaggct	10	14	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.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			Somatic					p.L418L	NM_144577.3	NP_653178.3	WXS	Illumina GAIIx	Phase_I	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	9	29	---	---	---	---	T	48801473	C	T	48801473	2	4	116	1	0	0	0	0	0	0	0	1	2751	581	21	2		2	CCDC114	19	48801473	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08	5367759	48801473	10327510	35	5338										
LRRN4	164312	broad.mit.edu	37	chr20	6031443	6031443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	acttctggaacagaaggaccTgtagatgtggagtatcttga	12	6	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.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		Somatic					p.Q281R	NM_152611.4	NP_689824.2	WXS	Illumina GAIIx	Phase_I	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	34	55	---	---	---	---	C	6031443	T	C	6031443	3	2	116	1	0	0	0	0	1	0	0	0	9037	1580	55	2	1392	2	LRRN4	20	6031443	Missense_Mutation	SNP	T	TCGA-EJ-A7NM-01A-21D-A33T-08		6031443	56994077	36	5339										
TRMT2A	27037	broad.mit.edu	37	chr22	20104421	20104421	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	tctacctcgttgtcgaggttCtcactcatcgcccaggcggt	10	14	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.chr22:20104421C>T	ENST00000252136.7	-	1	397	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RANBP1_ENST00000430524.1_Intron|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Silent_p.E3E|TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000404751.3_Silent_p.E3E	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			Somatic				TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|TRMT2A_ENST00000403707.3_Silent_p.E3E	p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	WXS	Illumina GAIIx	Phase_I	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	3	3	---	---	---	---	T	20104421	C	T	20104421	2	4	116	1	0	0	0	0	0	0	0	1	16562	912	32	2		2	TRMT2A	22	20104421	Silent	SNP	C	TCGA-EJ-A7NM-01A-21D-A33T-08		20104421	31200145	37	5340										
MMP11	4320	broad.mit.edu	37	chr22	24124530	24124530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0789473684210526	3	1	1.20029455081001	2.10051546391753	0.988477865372953	1	1	0	ggtctggggtcccgagaagaAcaagatctacttcttccgag	12	10	3	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		Somatic				AP000349.1_ENST00000598975.1_Silent_p.C228C	p.N398S	NM_005940.3	NP_005931.2	WXS	Illumina GAIIx	Phase_I	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	10	42	---	---	---	---	G	24124530	A	G	24124530	3	3	116	1	0	0	0	0	1	0	0	0	9650	43	2	2	1219	2	MMP11	22	24124530	Missense_Mutation	SNP	A	TCGA-EJ-A7NM-01A-21D-A33T-08	4020109	24124530	27180036	38	5341										
CLCA4	22802	broad.mit.edu	37	chr1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	aagtattcttgatctaagagAcagttttgatgatgctcttc	8	6	3	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.chr1:87045673A>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		Somatic				RP4-651E10.4_ENST00000456587.1_RNA	p.D802G	NM_012128.3	NP_036260.2	WXS	Illumina GAIIx	Phase_I	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	5	51	---	---	---	---	G	87045673	A	G	87045673	3	3	117	1	0	0	0	0	1	0	0	0	3459	275	10	2	2459	2	CLCA4	1	87045673	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		87045673	162204948	1	5342										
TRIM67	440730	broad.mit.edu	37	chr1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ggacagcgagccgctgctgcAggccatccaccagctggact	13	15	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_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000444294.3_Missense_Mutation_p.Q498P			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		Somatic				TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P	p.Q498P	NM_001004342.3	NP_001004342.3	WXS	Illumina GAIIx	Phase_I	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	5	19	---	---	---	---	C	231337222	A	C	231337222	3	2	117	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	144291549	231337222	17913399	2	5343										
DPP10	57628	broad.mit.edu	37	chr2	116066820	116066821	+	Nonsense_Mutation	DNP	GG	GG	TT													0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	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.chr2:116066820_116066821GG>TT	ENST00000410059.1	+	2	546_547	c.66_67GG>TT	c.(64-69)ctGGga>ctTTga	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						GGTAGGAACTGGGAAGTAACAG	0.391																																						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|c.(67-69)Gga>Tga		dipeptidyl-peptidase 10 (non-functional)																																				SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066820G>T|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	Exception_encountered	2.37:g.116066820_116066821delinsTT	ENSP00000386565:p.Gly23*		Somatic				DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000409163.1_5'UTR	p.L22L|p.G23*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			2	546|547	+			22|23			Mediates effects on KCND2.		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent|Nonsense_Mutation	SNP	ENST00000410059.1	37	c.66G>T|c.67G>T	CCDS46400.1																																																																																				0.391	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		14|15	32	14	32	---	---	---	---	TT	116066821	GG	TT	116066820	4	4	117	1	0	0	0	0	0	1	0	0	4727	1335	47	1	243	1	DPP10	2	116066820	Nonsense_Mutation	DNP	GG	TCGA-EJ-A8FN-01A-11D-A34U-08		116066820	127132553	3	5344										
LIMD1	8994	broad.mit.edu	37	chr3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ccaagctcagccccaccagtCttgtccatccagtgatgtcc	7	17	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.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F|LIMD1_ENST00000465039.1_Intron	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		Somatic				LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	p.L388F	NM_014240.2	NP_055055.1	WXS	Illumina GAIIx	Phase_I	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	14	20	---	---	---	---	T	45637533	C	T	45637533	3	4	117	1	0	0	0	0	1	0	0	0	8798	913	32	2	1164	2	LIMD1	3	45637533	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08		45637533	152384897	4	5345										
IMPDH2	54870	broad.mit.edu	37	chr3	49065748	49065748	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ggtggatgaagccaataccgCctgtaagctacaggataaaa	11	8	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.chr3:49065748C>T	ENST00000395443.2	-	0	3549				IMPDH2_ENST00000326739.4_Missense_Mutation_p.G86D|RP13-131K19.6_ENST00000607245.1_RNA	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			Somatic					p.G86D	NM_000884.2	NP_000875.2	WXS	Illumina GAIIx	Phase_I	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	8	61	---	---	---	---	T	49065748	C	T	49065748	1	4	117	0	1	0	0	0	0	0	0	0	7727	739	26	2		2	IMPDH2	3	49065748	IGR	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	3428215	49065748	148956682	5	5346										
SGCD	6444	broad.mit.edu	37	chr5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-													0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	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)cagfs		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		Somatic				SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	p.Q274fs	NM_001128209.1	NP_001121681.1	WXS	Illumina GAIIx	Phase_I	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	117	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		156186353	24728907	6	5347										
PACSIN1	29993	broad.mit.edu	37	chr6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	cccctttgggggcagtgagaCcaacgggggcgccaacccct	14	15	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.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N	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	29993				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		Somatic				PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N	p.T374N	NM_001199583.2	NP_001186512.1	WXS	Illumina GAIIx	Phase_I	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	13	148	---	---	---	---	A	34499460	C	A	34499460	3	1	117	1	0	0	0	0	1	0	0	0	11374	507	18	3	1151	3	PACSIN1	6	34499460	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08		34499460	136615607	7	5348										
HOXA9	3205	broad.mit.edu	37	chr7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ttcgctgggttgtttttctcTatcaactggaggagaaccac	10	9	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.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*	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*		Somatic				RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR	p.R166*	NM_152739.3	NP_689952.1	WXS	Illumina GAIIx	Phase_I	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	9	50	---	---	---	---	A	27204581	T	A	27204581	4	1	117	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		27204581	131934082	8	5349										
LMOD2	442721	broad.mit.edu	37	chr7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	gcaaagaggaacacctagctCttcaccttatgtatctccca	6	13	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.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		Somatic				LMOD2_ENST00000456238.2_Intron	p.S387Y	NM_207163.1	NP_997046.1	WXS	Illumina GAIIx	Phase_I	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	31	79	---	---	---	---	A	123302800	C	A	123302800	3	1	117	1	0	0	0	0	1	0	0	0	8857	913	32	3	1166	3	LMOD2	7	123302800	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	96098219	123302800	35835863	9	5350										
RFX3	5991	broad.mit.edu	37	chr9	3293175	3293175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	tccagtttgtgttcctgacaGtgtcgaaggtagtggttgta	13	6	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.chr9:3293175G>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			Somatic				RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	A	3293175	G	A	3293175	2	1	117	1	0	0	0	0	0	0	0	1	13264	1020	36	2		2	RFX3	9	3293175	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		3293175	137920256	10	5351										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504838	18504838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ttctcacagagttccaggacCgcacgctccgaggaggaccg	12	14	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.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T|ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_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			Somatic				ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	p.T25T	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	T	18504838	C	T	18504838	2	4	117	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	11	5352										
ACBD5	91452	broad.mit.edu	37	chr10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	agtaatactgaaatggtccaTtgttggacgtaaagctgtct	10	6	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.chr10:27499985T>C	ENST00000375888.1	-	9	1053	c.989A>G	c.(988-990)aAt>aGt	p.N330S	ACBD5_ENST00000396271.3_Missense_Mutation_p.N321S|ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S			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		Somatic				ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000476758.1_5'UTR	p.N321S	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	WXS	Illumina GAIIx	Phase_I	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	13	88	---	---	---	---	C	27499985	T	C	27499985	3	2	117	1	0	0	0	0	1	0	0	0	125	1493	52	2	635	2	ACBD5	10	27499985	Missense_Mutation	SNP	T	TCGA-EJ-A8FN-01A-11D-A34U-08		27499985	108034762	12	5353										
NUDT13	25961	broad.mit.edu	37	chr10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	tttggacaggatgcacaaagAatagaagattctgtgctgat	11	5	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.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|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_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		Somatic				NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	WXS	Illumina GAIIx	Phase_I	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	5	129	---	---	---	---	C	74881976	A	C	74881976	3	2	117	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	13	5354										
GLYATL2	219970	broad.mit.edu	37	chr11	58604621	58604621	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ttttgaagttgcaacctttcTtattgcttcatccaagccct	5	11	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.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R	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			Somatic				GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R	p.R115R	NM_145016.3	NP_659453.3	WXS	Illumina GAIIx	Phase_I	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	42	86	---	---	---	---	G	58604621	T	G	58604621	2	3	117	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	14	5355										
BSX	390259	broad.mit.edu	37	chr11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ggcggtggcggcctctgaacCgcgggggctgccctcggggc	20	14	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.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		Somatic					p.G191C	NM_001098169.1	NP_001091639.1	WXS	Illumina GAIIx	Phase_I	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	10	25	---	---	---	---	A	122848488	C	A	122848488	3	1	117	1	0	0	0	0	1	0	0	0	1535	652	23	1	133	1	BSX	11	122848488	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	64243867	122848488	12158028	15	5356										
MLL2	8085	broad.mit.edu	37	chr12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-													0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	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)gagfs		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		Somatic					p.E731fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	117	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	16	5357										
PPP2R5E	5529	broad.mit.edu	37	chr14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	tggaggagtagttggtgctgAggacatatccctactgaaga	14	6	0	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.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	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		Somatic				PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	p.S3P	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	WXS	Illumina GAIIx	Phase_I	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	14	48	---	---	---	---	G	64006397	A	G	64006397	3	3	117	1	0	0	0	0	1	0	0	0	12396	304	11	2	1448	2	PPP2R5E	14	64006397	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		64006397	43343143	17	5358										
BBS4	585	broad.mit.edu	37	chr15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	actcttccagacatgtgcagTtcttagtcctcagagtgctg	9	11	3	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.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'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		Somatic				BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	p.V95D	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	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	16	33	---	---	---	---	A	73007695	T	A	73007695	3	1	117	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	18	5359										
MAN2C1	4123	broad.mit.edu	37	chr15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	tagcacaaactggttccccaCggcgccctcagcaatggcct	9	16	1	0	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_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	T	75651127	C	T	75651127	3	4	117	1	0	0	0	0	1	0	0	0	9218	536	19	2	990	2	MAN2C1	15	75651127	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	2643432	75651127	26880265	19	5360										
ITFG1	81533	broad.mit.edu	37	chr16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	cttacttgaaagatacctttActttgggtttaaaatagggt	8	5	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.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000566044.1_5'Flank|ITFG1_ENST00000544001.2_5'UTR|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000323584.5_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		Somatic				ITFG1_ENST00000544001.2_5'UTR	p.V89A	NM_030790.3	NP_110417.2	WXS	Illumina GAIIx	Phase_I	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	14	57	---	---	---	---	G	47493029	A	G	47493029	3	3	117	1	0	0	0	0	1	0	0	0	7869	391	14	2	1640	2	ITFG1	16	47493029	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		47493029	42861724	20	5361										
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770010	66770010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	caccaacaccgggatccccaGgttatgagtcagcacattgt	9	13	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.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	RP11-63M22.1_ENST00000565082.1_lincRNA|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.L146L	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			Somatic				DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron	p.L223L	NM_006141.2	NP_006132.1	WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	A	66770010	G	A	66770010	2	1	117	1	0	0	0	0	0	0	0	1	4845	991	35	2		2	DYNC1LI2	16	66770010	Silent	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08	19276981	66770010	23584743	21	5362										
MLL4	9757	broad.mit.edu	37	chr19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	gccctgtccggtctgaagatGagtcggtggaagctaagaga	15	8	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.chr19:36213342G>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																																						ENST00000222270.7																			0											c.(2539-2541)Gag>Aag		lysine (K)-specific methyltransferase 2B							45	49	48					19																	36213342		1944	4129	6073	SO:0001583	missense	9757							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		Somatic				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K	p.E847K	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					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	6	18	---	---	---	---	A	36213342	G	A	36213342	3	1	117	1	0	0	0	0	1	0	0	0	9623	1291	45	2	2553	2	MLL4	19	36213342	Missense_Mutation	SNP	G	TCGA-EJ-A8FN-01A-11D-A34U-08		36213342	22915641	22	5363										
PSG4	5672	broad.mit.edu	37	chr19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	ccacttaccagagactttgaCtgtgatggatttggagcttt	10	8	0	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.chr19:43698504C>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		Somatic				PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	p.V411I	NM_002780.3	NP_002771.2	WXS	Illumina GAIIx	Phase_I	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	76	210	---	---	---	---	T	43698504	C	T	43698504	3	4	117	1	0	0	0	0	1	0	0	0	12657	565	20	2	36	2	PSG4	19	43698504	Missense_Mutation	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	7485162	43698504	15430479	23	5364										
LILRB5	10990	broad.mit.edu	37	chr19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	tcgccaccagctccagggggTcactgggctctgaccagcct	12	16	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.chr19:54760375T>A	ENST00000316219.5	-	3	439	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000450632.1_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_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	10990				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		Somatic				LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V	p.D111V			WXS	Illumina GAIIx	Phase_I	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	32	93	---	---	---	---	A	54760375	T	A	54760375	3	1	117	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	11061871	54760375	4368608	24	5365										
TTLL12	23170	broad.mit.edu	37	chr22	43576901	43576901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	acctgctgcagctgctggcgCgcgtgctccacacggcacgt	13	16	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			Somatic					p.A131A	NM_015140.3	NP_055955.1	WXS	Illumina GAIIx	Phase_I	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	4	69	---	---	---	---	T	43576901	C	T	43576901	2	4	117	1	0	0	0	0	0	0	0	1	16722	755	27	2		2	TTLL12	22	43576901	Silent	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08		43576901	7727665	25	5366										
VCX	26609	broad.mit.edu	37	chrX	7811726	7811726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	gccggaggagccagtgagcgAggggacccagcacgaccccc	16	15	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.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		Somatic				VCX_ENST00000341408.4_Missense_Mutation_p.E97G	p.E97G	NM_013452.2	NP_038480.2	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	G	7811726	A	G	7811726	3	3	117	1	0	0	0	0	1	0	0	0	17139	304	11	2	296	2	VCX	23	7811726	Missense_Mutation	SNP	A	TCGA-EJ-A8FN-01A-11D-A34U-08		7811726	147458834	26	5367										
SMARCA1	6594	broad.mit.edu	37	chrX	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T													0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	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_ENST00000371123.1_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371121.3_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)aaagaafs		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		Somatic				SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	p.E500fs	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	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	117	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	27	5368										
L1CAM	3897	broad.mit.edu	37	chrX	153137810	153137810	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.81016949152542	NA	1.81016949152542	0.4	1	0	catccctcgtccagcggaacCtgtgggcggaaaaaggccca	12	14	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:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_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			Somatic				L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site		NM_001278116.1	NP_001265045.1	WXS	Illumina GAIIx	Phase_I	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	7	9	---	---	---	---	T	153137810	C	T	153137810	5	4	117	1	0	0	0	0	0	0	1	0	8588	695	24	2	3676	2	L1CAM	23	153137810	Splice_Site	SNP	C	TCGA-EJ-A8FN-01A-11D-A34U-08	24505982	153137810	2132750	28	5369										
ASH1L	55870	broad.mit.edu	37	chr1	155429593	155429593	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	acaaatagcactagcctgttGaagaagtactctcagatgaa	8	8	1	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*		Somatic				ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*	p.S1694*			WXS	Illumina GAIIx	Phase_I	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	7	16	---	---	---	---	C	155429593	G	C	155429593	4	2	118	1	0	0	0	0	0	1	0	0	1041	1294	45	4	3913	4	ASH1L	1	155429593	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		155429593	93821028	1	5370										
SMG7	9887	broad.mit.edu	37	chr1	183514379	183514379	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	ttcaagctctaactcagcaaCaacaatcccctacaaaagct	3	14	3	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.chr1:183514379C>T	ENST00000347615.2	+	16	2421	c.2302C>T	c.(2302-2304)Caa>Taa	p.Q768*	SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000367537.3_Nonsense_Mutation_p.Q751*|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*		Somatic				SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*	p.Q751*			WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	T	183514379	C	T	183514379	4	4	118	1	0	0	0	0	0	1	0	0	14798	479	17	2	2364	2	SMG7	1	183514379	Nonsense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	28084786	183514379	65736242	2	5371										
LRRN2	10446	broad.mit.edu	37	chr1	204589109	204589109	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	gctagcaagagtggggccacGagaagcctcatggtggagct	16	9	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.chr1:204589109G>A	ENST00000367175.1	-	1	2224	c.12C>T	c.(10-12)ctC>ctT	p.L4L	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L|LRRN2_ENST00000367177.3_Silent_p.L4L			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			Somatic				LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L	p.L4L			WXS	Illumina GAIIx	Phase_I	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	3	5	---	---	---	---	A	204589109	G	A	204589109	2	1	118	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	3	5372										
NUP133	55746	broad.mit.edu	37	chr1	229580721	229580721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	gtctttagatacttcaattgGatcatctttgccatcagaac	6	9	5	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.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		Somatic				NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S	p.P1092S	NM_018230.2	NP_060700.2	WXS	Illumina GAIIx	Phase_I	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	31	98	---	---	---	---	A	229580721	G	A	229580721	3	1	118	1	0	0	0	0	1	0	0	0	10754	1174	41	2	204	2	NUP133	1	229580721	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	24991612	229580721	19669900	4	5373										
OTX1	5013	broad.mit.edu	37	chr2	63282953	63282953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tcgccaggctcagcgcccgcGtccgtgtcggtgccggagcc	15	17	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.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			Somatic				OTX1_ENST00000366671.3_Silent_p.A189A	p.A189A	NM_014562.3	NP_055377.1	WXS	Illumina GAIIx	Phase_I	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	7	11	---	---	---	---	A	63282953	G	A	63282953	2	1	118	1	0	0	0	0	0	0	0	1	11320	1132	40	2		2	OTX1	2	63282953	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		63282953	179916420	5	5374										
MLPH	79083	broad.mit.edu	37	chr2	238402143	238402143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	cttggaagttgttcaacgagAttttgacctccgaaggaaag	11	7	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.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_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_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		Somatic				MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V	p.D25V	NM_024101.5	NP_077006.1	WXS	Illumina GAIIx	Phase_I	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	22	74	---	---	---	---	T	238402143	A	T	238402143	3	4	118	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	175119190	238402143	4797230	6	5375										
CHRNA9	55584	broad.mit.edu	37	chr4	40351353	40351353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	aaaaggtctccctgggagtgAccatcctgttggccatgact	11	11	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.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		Somatic					p.T274A	NM_017581.3	NP_060051.2	WXS	Illumina GAIIx	Phase_I	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	84	151	---	---	---	---	G	40351353	A	G	40351353	3	3	118	1	0	0	0	0	1	0	0	0	3389	275	10	2	834	2	CHRNA9	4	40351353	Missense_Mutation	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		40351353	150802923	7	5376										
ELF2	1998	broad.mit.edu	37	chr4	139980684	139980684	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	atggtgcacctgcattaactGactgaactgccacagttgaa	9	10	0	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.chr4:139980684G>C	ENST00000394235.2	-	10	1701	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*	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*		Somatic				ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000515489.1_Intron	p.S400*	NM_001276458.1	NP_001263387.1	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	C	139980684	G	C	139980684	4	2	118	1	0	0	0	0	0	1	0	0	5054	1294	45	4	550	4	ELF2	4	139980684	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	99629331	139980684	51173592	8	5377										
FAT1	2195	broad.mit.edu	37	chr4	187540591	187540591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	aagagtggtggattatcattGaggtcggtaacgtccaccgt	13	7	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.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)	Somatic					p.L2383L	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	A	187540591	G	A	187540591	2	1	118	1	0	0	0	0	0	0	0	1	5689	1277	45	2		2	FAT1	4	187540591	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	47559907	187540591	3613685	9	5378										
PDZD2	23037	broad.mit.edu	37	chr5	32089032	32089032	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	aaggaacaacctctaatgccTgccagaagtcccgactccaa	7	14	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.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			Somatic				PDZD2_ENST00000282493.3_Silent_p.P1826P	p.P1826P			WXS	Illumina GAIIx	Phase_I	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	29	46	---	---	---	---	C	32089032	T	C	32089032	2	2	118	1	0	0	0	0	0	0	0	1	11701	1567	55	2		2	PDZD2	5	32089032	Silent	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		32089032	148826228	10	5379										
EGR1	1958	broad.mit.edu	37	chr5	137802637	137802637	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	gcctagtgagcatgaccaacCcaccggcctcctcgtcctca	8	18	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.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		Somatic					p.P167A	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	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	48	74	---	---	---	---	G	137802637	C	G	137802637	3	3	118	1	0	0	0	0	1	0	0	0	4971	623	22	4	505	4	EGR1	5	137802637	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	105713605	137802637	43112623	11	5380										
PCDHA7	56141	broad.mit.edu	37	chr5	140215504	140215504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	agctacgtgtcagtgcacgcGgagagcggcaaggtgtacgc	16	10	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.chr5:140215504G>T	ENST00000525929.1	+	1	1536	c.1536G>T	c.(1534-1536)gcG>gcT	p.A512A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_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	56141							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			Somatic				PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A512A	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			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	61	101	---	---	---	---	T	140215504	G	T	140215504	2	4	118	1	0	0	0	0	0	0	0	1	11529	1103	39	1		1	PCDHA7	5	140215504	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	2412867	140215504	40699756	12	5381										
GTF3C6	112495	broad.mit.edu	37	chr6	111288987	111288987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tttatggaaactcaaatgctGccttagaaatcactcctaga	6	9	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.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			Somatic				GTF3C6_ENST00000480191.1_3'UTR	p.L212L	NM_138408.3	NP_612417.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	A	111288987	G	A	111288987	2	1	118	1	0	0	0	0	0	0	0	1	6877	1306	46	2		2	GTF3C6	6	111288987	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		111288987	59826080	13	5382										
RFPL4B	442247	broad.mit.edu	37	chr6	112671567	112671568	+	Frame_Shift_Ins	INS	-	-	T													0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	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_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_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.(658-660)tttfs		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		Somatic					p.F220fs	NM_001013734.2	NP_001013756.2	WXS	Illumina GAIIx	Phase_I	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)	220			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	118	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	14	5383										
TIAM2	26230	broad.mit.edu	37	chr6	155565186	155565186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	ttatacttggagccacttcaGaatgagacctttcttaccca	6	11	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.chr6:155565186G>C	ENST00000461783.3	+	19	4663	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H			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		Somatic				TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H	p.Q1130H			WXS	Illumina GAIIx	Phase_I	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	39	65	---	---	---	---	C	155565186	G	C	155565186	3	2	118	1	0	0	0	0	1	0	0	0	15888	933	33	4	3444	4	TIAM2	6	155565186	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	42893619	155565186	15549881	15	5384										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519779	113519779	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	gccattagttgatctgaagaGgggcaaggtatttgcactgt	13	6	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.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			Somatic					p.P456P	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	5	103	---	---	---	---	C	113519779	G	C	113519779	2	2	118	1	0	0	0	0	0	0	0	1	12371	987	35	4		4	PPP1R3A	7	113519779	Silent	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		113519779	45618884	16	5385										
KIAA1147	57189	broad.mit.edu	37	chr7	141385300	141385300	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	aacctggttctccaagaagtGcatgtagcggtaaagcagtg	12	8	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.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		Somatic				KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	p.H169D	NM_001080392.1	NP_001073861.1	WXS	Illumina GAIIx	Phase_I	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	51	77	---	---	---	---	C	141385300	G	C	141385300	3	2	118	1	0	0	0	0	1	0	0	0	8210	1319	46	4	890	4	KIAA1147	7	141385300	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08	27865521	141385300	17753363	17	5386										
ADHFE1	137872	broad.mit.edu	37	chr8	67356974	67356974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	taatgtgagagtggaaccaaCggattcaaggtattcttgta	11	5	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.chr8:67356974C>T	ENST00000396623.3	+	5	375	c.344C>T	c.(343-345)aCg>aTg	p.T115M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M	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		Somatic				ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	p.T115M	NM_144650.2	NP_653251.2	WXS	Illumina GAIIx	Phase_I	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	4	195	---	---	---	---	T	67356974	C	T	67356974	3	4	118	1	0	0	0	0	1	0	0	0	314	536	19	2	362	2	ADHFE1	8	67356974	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		67356974	79007048	18	5387										
SMC2	10592	broad.mit.edu	37	chr9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tccagagaagaactggaataGaaattgtgtgaaaggacttg	12	4	0	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.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_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		Somatic				SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T	p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	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	26	54	---	---	---	---	C	106876995	G	C	106876995	3	2	118	1	0	0	0	0	1	0	0	0	14783	942	33	4	1602	4	SMC2	9	106876995	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		106876995	34336436	19	5388										
ITIH2	3698	broad.mit.edu	37	chr10	7745433	7745433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tgctttttcatctgcttcttTctttctgaagtatcaggctt	6	9	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.chr10:7745433T>A	ENST00000358415.4	+	1	202	c.36T>A	c.(34-36)ttT>ttA	p.F12L	ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L|ITIH2_ENST00000480387.1_3'UTR	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		Somatic				ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	p.F12L	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	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	37	95	---	---	---	---	A	7745433	T	A	7745433	3	1	118	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	20	5389										
FAM178A	55719	broad.mit.edu	37	chr10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tggcaattctggccaccattCtaccaggaatagtgaccaaa	8	11	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.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_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																																						ENST00000238961.4																			0											c.(1255-1257)tCt>tGt		family with sequence similarity 178, member A							122	125	124					10																	102684014		2203	4300	6503	SO:0001583	missense	55719							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		Somatic				FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	p.S419C	NM_018121.3	NP_060591.3	WXS	Illumina GAIIx	Phase_I	Q8IX21	F178A_HUMAN			5	1798	+								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	48	65	---	---	---	---	G	102684014	C	G	102684014	3	3	118	1	0	0	0	0	1	0	0	0	5503	913	32	4	1274	4	FAM178A	10	102684014	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	94938581	102684014	32850733	21	5390										
PPP1R13B	23368	broad.mit.edu	37	chr14	104212714	104212714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	ggccaggaccactcaccggaTttggatcttccatgagcagc	11	13	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.chr14:104212714T>C	ENST00000202556.9	-	9	1428	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'Flank	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			Somatic				PPP1R13B_ENST00000423488.2_5'UTR	p.K382K	NM_015316.2	NP_056131.2	WXS	Illumina GAIIx	Phase_I	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	15	17	---	---	---	---	C	104212714	T	C	104212714	2	2	118	1	0	0	0	0	0	0	0	1	12357	1490	52	2		2	PPP1R13B	14	104212714	Silent	SNP	T	TCGA-EJ-A8FS-01A-11D-A34U-08		104212714	3136826	22	5391										
EPB42	2038	broad.mit.edu	37	chr15	43500934	43500934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tgccctgtgctgaggcaaacGtggtcaccacgcgggcaggg	16	12	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.chr15:43500934G>A	ENST00000441366.2	-	7	1097	c.872C>T	c.(871-873)aCg>aTg	p.T291M	EPB42_ENST00000540029.1_Missense_Mutation_p.T213M|EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Missense_Mutation_p.T321M	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		Somatic				EPB42_ENST00000441366.2_Missense_Mutation_p.T291M|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M	p.T321M			WXS	Illumina GAIIx	Phase_I	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	31	54	---	---	---	---	A	43500934	G	A	43500934	3	1	118	1	0	0	0	0	1	0	0	0	5158	1145	40	2	1231	2	EPB42	15	43500934	Missense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		43500934	59030458	23	5392										
TRAP1	10131	broad.mit.edu	37	chr16	3713497	3713497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	cgtctccacagagatcagctTcttcttgtcaaactcacgaa	6	13	6	1	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	DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000575671.1_Missense_Mutation_p.K337Q|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q	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		Somatic				DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q	p.K337Q			WXS	Illumina GAIIx	Phase_I	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	22	53	---	---	---	---	G	3713497	T	G	3713497	3	3	118	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	24	5393										
MYH11	4629	broad.mit.edu	37	chr16	15808890	15808890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	ctgggactcctcctctgcctCctccagctgcctcttgagct	8	18	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.chr16:15808890C>T	ENST00000300036.5	-	40	5771	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1895K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|NDE1_ENST00000342673.5_Intron	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																																	ENST00000452625.2				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.(5683-5685)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		Somatic				NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K	p.E1895K	NM_001040113.1	NP_001035202.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			41	5770	-			1888					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5683G>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	62	179	---	---	---	---	T	15808890	C	T	15808890	3	4	118	1	0	0	0	0	1	0	0	0	10031	864	30	2	299	2	MYH11	16	15808890	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08	12095393	15808890	74545863	25	5394										
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	cattcaggatggagaatttgAattttgcccgaacttcactc	8	9	2	2	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_ENST00000393331.3_Missense_Mutation_p.F102S|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	55	72	---	---	---	---	G	47696643	A	G	47696643	3	3	118	1	0	0	0	0	1	0	0	0	15083	246	9	2	847	2	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		47696643	33498567	26	5395										
ALPK2	115701	broad.mit.edu	37	chr18	56246451	56246451	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	cataagtcctttccccccacTctcttgtcagctgccgtctc	5	18	3	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	48	105	---	---	---	---	A	56246451	T	A	56246451	3	1	118	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		56246451	21830797	27	5396										
DNASE2	1777	broad.mit.edu	37	chr19	12986907	12986907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	agagggctggcagctgggcaCacagtgtgcccccaccccgt	14	15	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.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		Somatic				DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	p.C327F	NM_001375.2	NP_001366.1	WXS	Illumina GAIIx	Phase_I	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	37	59	---	---	---	---	A	12986907	C	A	12986907	3	1	118	1	0	0	0	0	1	0	0	0	4664	478	17	3	106	3	DNASE2	19	12986907	Missense_Mutation	SNP	C	TCGA-EJ-A8FS-01A-11D-A34U-08		12986907	46142076	28	5397										
CYP2A13	1553	broad.mit.edu	37	chr19	41595990	41595990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	gggagcgcgccaagcagctcCggcgcttctccatcgccacc	12	18	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.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		Somatic					p.R128W	NM_000766.4	NP_000757.2	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	T	41595990	C	T	41595990	3	4	118	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	28609083	41595990	17532993	29	5398										
PDE9A	5152	broad.mit.edu	37	chr21	44190855	44190855	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	tcatgctgcagccactttggGaatcccgagatcgctacgag	11	12	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.chr21:44190855G>T	ENST00000291539.6	+	18	1693	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|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_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*	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*		Somatic				PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*	p.E545*	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	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	21	6	---	---	---	---	T	44190855	G	T	44190855	4	4	118	1	0	0	0	0	0	1	0	0	11655	1175	41	3	1783	3	PDE9A	21	44190855	Nonsense_Mutation	SNP	G	TCGA-EJ-A8FS-01A-11D-A34U-08		44190855	3939040	30	5399										
NKAP	79576	broad.mit.edu	37	chrX	119077407	119077407	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.193548387096774	6	0.853525798085268	2.17687074829932	4.08163265306122	0.653061224489796	0.0800865800865801	1	0	cccagctgatgggtgagtccAttccggtccccggaccgaga	13	14	0	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.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			Somatic					p.N54N	NM_024528.3	NP_078804.2	WXS	Illumina GAIIx	Phase_I	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	5	1	---	---	---	---	G	119077407	A	G	119077407	2	3	118	1	0	0	0	0	0	0	0	1	10439	214	8	2		2	NKAP	23	119077407	Silent	SNP	A	TCGA-EJ-A8FS-01A-11D-A34U-08		119077407	36193153	31	5400										
FMN2	56776	broad.mit.edu	37	chr1	240492719	240492719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	ccagtccacattttcagaaaGcatttgctcaattcgtcgca	6	12	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.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		Somatic				FMN2_ENST00000545751.1_Missense_Mutation_p.S59I	p.S1463I	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	T	240492719	G	T	240492719	3	4	119	1	0	0	0	0	1	0	0	0	5950	971	34	3	4426	3	FMN2	1	240492719	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		240492719	8757902	1	5401										
ZNF638	27332	broad.mit.edu	37	chr2	71654016	71654016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	tgtcagtggctgaagaacaaGatctcctcaaacaggaacgc	10	10	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.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_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	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		Somatic				ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y	p.D1673Y	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	T	71654016	G	T	71654016	3	4	119	1	0	0	0	0	1	0	0	0	18052	942	33	3	5107	3	ZNF638	2	71654016	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		71654016	171545357	2	5402										
CNTN4	152330	broad.mit.edu	37	chr3	2944670	2944670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	catggagttatcttttccaaCgcagagcttagtgttatagg	10	7	1	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.chr3:2944670C>T	ENST00000397461.1	+	11	1572	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000448906.2_Silent_p.N68N|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			Somatic				CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR	p.N396N	NM_001206955.1	NP_001193884.1	WXS	Illumina GAIIx	Phase_I	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	4	51	---	---	---	---	T	2944670	C	T	2944670	2	4	119	1	0	0	0	0	0	0	0	1	3643	535	19	2		2	CNTN4	3	2944670	Silent	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		2944670	195077760	3	5403										
DNAJC2	27000	broad.mit.edu	37	chr7	102953049	102953049	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	ctacttgcattcagcacttgTtcttgagcagctttctttgc	7	11	3	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.chr7:102953049T>C	ENST00000379263.3	-	17	2083	c.1833A>G	c.(1831-1833)gaA>gaG	p.E611E	DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR|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			Somatic				PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR	p.E611E	NM_014377.1	NP_055192.1	WXS	Illumina GAIIx	Phase_I	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	6	91	---	---	---	---	C	102953049	T	C	102953049	2	2	119	1	0	0	0	0	0	0	0	1	4639	1722	60	2		2	DNAJC2	7	102953049	Silent	SNP	T	TCGA-EJ-A8FU-01A-11D-A364-08		102953049	56185614	4	5404										
TMEM71	137835	broad.mit.edu	37	chr8	133764058	133764058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	agttctccttatacataacgCtggtctgggatgggttcaga	11	8	3	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.chr8:133764058C>T	ENST00000356838.3	-	4	429	c.287G>A	c.(286-288)aGc>aAc	p.S96N	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N	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		Somatic				TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N	p.S96N	NM_144649.2	NP_653250.2	WXS	Illumina GAIIx	Phase_I	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	7	115	---	---	---	---	T	133764058	C	T	133764058	3	4	119	1	0	0	0	0	1	0	0	0	16197	797	28	2	628	2	TMEM71	8	133764058	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		133764058	12599964	5	5405										
PIP5KL1	138429	broad.mit.edu	37	chr9	130688198	130688198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	tccttcagcaccagaacaagGgggctgccctcaggggcggg	15	13	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			Somatic				PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P	p.P237P	NM_001135219.1	NP_001128691.1	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	A	130688198	G	A	130688198	2	1	119	1	0	0	0	0	0	0	0	1	11942	1219	43	2		2	PIP5KL1	9	130688198	Silent	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		130688198	10525233	6	5406										
OR4D5	219875	broad.mit.edu	37	chr11	123810795	123810795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	ggggcttcatccactccataGtacagattgcattgactatc	8	11	1	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.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		Somatic					p.V158I	NM_001001965.1	NP_001001965.1	WXS	Illumina GAIIx	Phase_I	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	4	91	---	---	---	---	A	123810795	G	A	123810795	3	1	119	1	0	0	0	0	1	0	0	0	11057	1029	36	2	474	2	OR4D5	11	123810795	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08		123810795	11195721	7	5407										
FBXO21	23014	broad.mit.edu	37	chr12	117624369	117624369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	caatgtcactgaagccattaCaaggaacctatgaagaagac	8	9	1	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.chr12:117624369C>T	ENST00000330622.5	-	3	382	c.383G>A	c.(382-384)tGt>tAt	p.C128Y	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Missense_Mutation_p.C128Y			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		Somatic				FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y	p.C128Y	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	WXS	Illumina GAIIx	Phase_I	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	7	76	---	---	---	---	T	117624369	C	T	117624369	3	4	119	1	0	0	0	0	1	0	0	0	5733	478	17	2	1543	2	FBXO21	12	117624369	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		117624369	16227526	8	5408										
SRP54	6729	broad.mit.edu	37	chr14	35480857	35480857	+	Frame_Shift_Del	DEL	A	A	-													0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	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_ENST00000555557.1_Frame_Shift_Del_p.N146fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs			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)aatfs		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		Somatic				SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs	p.N210fs			WXS	Illumina GAIIx	Phase_I	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	119	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	9	5409										
CABIN1	23523	broad.mit.edu	37	chr22	24530349	24530349	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	cacatgccggcacaggggctCttctgcgagaggaacaagac	13	12	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.chr22:24530349C>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			Somatic				CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L	p.L1571L	NM_001199281.1	NP_001186210.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	G	24530349	C	G	24530349	2	3	119	1	0	0	0	0	0	0	0	1	2528	900	32	4		4	CABIN1	22	24530349	Silent	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08		24530349	26774217	10	5410										
LRP5L	91355	broad.mit.edu	37	chr22	25753228	25753228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	catgggagcctcacctcgatCttgtctgtcttggcatctcc	9	14	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.chr22:25753228C>G	ENST00000402785.2	-	2	528	c.432G>C	c.(430-432)aaG>aaC	p.K144N	LRP5L_ENST00000444995.3_Missense_Mutation_p.K144N|LRP5L_ENST00000402859.2_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		Somatic				LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N	p.K144N			WXS	Illumina GAIIx	Phase_I	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	5	45	---	---	---	---	G	25753228	C	G	25753228	3	3	119	1	0	0	0	0	1	0	0	0	8961	912	32	4	338	4	LRP5L	22	25753228	Missense_Mutation	SNP	C	TCGA-EJ-A8FU-01A-11D-A364-08	1222879	25753228	25551338	11	5411										
FAM83F	113828	broad.mit.edu	37	chr22	40415250	40415250	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.425	3.8	0	0.4	1	0	atgctgcctgtaagcgccggGtcccagtgtacatcatcctg	11	13	1	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.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																																						ENST00000333407.6																			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		Somatic				FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L	p.V190L	NM_138435.2	NP_612444.2	WXS	Illumina GAIIx	Phase_I	Q8NEG4	FA83F_HUMAN			2	662	+								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	3	83	---	---	---	---	C	40415250	G	C	40415250	3	2	119	1	0	0	0	0	1	0	0	0	5638	1261	44	4	574	4	FAM83F	22	40415250	Missense_Mutation	SNP	G	TCGA-EJ-A8FU-01A-11D-A364-08	14662022	40415250	10889316	12	5412										
GPATCH4	54865	broad.mit.edu	37	chr1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcctccaagacccccatctTctcctcttcatggtgccacc	4	19	4	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.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		Somatic				GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	p.K302E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	WXS	Illumina GAIIx	Phase_I	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	25	172	---	---	---	---	C	156565214	T	C	156565214	3	2	120	1	0	0	0	0	1	0	0	0	6593	1792	62	2	212	2	GPATCH4	1	156565214	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		156565214	92685407	1	5413										
FCGR2A	2212	broad.mit.edu	37	chr1	161479821	161479821	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cactgcacaggaaacataggCtacacgctgttctcatccaa	7	13	1	0	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			Somatic				FCGR2A_ENST00000367972.4_Silent_p.G191G	p.G192G	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	WXS	Illumina GAIIx	Phase_I	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	12	89	---	---	---	---	A	161479821	C	A	161479821	2	1	120	1	0	0	0	0	0	0	0	1	5781	784	28	3		3	FCGR2A	1	161479821	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	4914607	161479821	87770800	2	5414										
ZAP70	7535	broad.mit.edu	37	chr2	98351131	98351131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgacattgaacttggctgCggcaactttggctcagtgcg	13	10	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.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000451498.2_Silent_p.C39C	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			Somatic				ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C	p.C346C	NM_001079.3	NP_001070.2	WXS	Illumina GAIIx	Phase_I	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	35	136	---	---	---	---	T	98351131	C	T	98351131	2	4	120	1	0	0	0	0	0	0	0	1	17511	776	27	2		2	ZAP70	2	98351131	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08		98351131	144848242	3	5415										
EPB41L5	57669	broad.mit.edu	37	chr2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaatgagaataatgtgccccTccccaaagagtctcttgaga	8	10	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.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	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		Somatic				EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P|EPB41L5_ENST00000488691.1_3'UTR	p.L608P	NM_020909.3	NP_065960.2	WXS	Illumina GAIIx	Phase_I	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	3	167	---	---	---	---	C	120918486	T	C	120918486	3	2	120	1	0	0	0	0	1	0	0	0	5157	1551	54	2	2086	2	EPB41L5	2	120918486	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	22567355	120918486	122280887	4	5416										
USP37	57695	broad.mit.edu	37	chr2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aattgaacgaggagggagtgGttttttcctacgaggaaggt	15	4	0	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.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000415516.1_Missense_Mutation_p.P443T	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		Somatic				USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T	p.P515T	NM_020935.2	NP_065986	WXS	Illumina GAIIx	Phase_I	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	8	85	---	---	---	---	T	219353074	G	T	219353074	3	4	120	1	0	0	0	0	1	0	0	0	17065	1261	44	3	1444	3	USP37	2	219353074	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	98434588	219353074	23846299	5	5417										
SCN10A	6336	broad.mit.edu	37	chr3	38766807	38766807	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttgctgcagctgctcctgcTagtgagagagggtcccaact	12	12	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.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			Somatic						NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	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	7	28	---	---	---	---	C	38766807	T	C	38766807	5	2	120	1	0	0	0	0	0	0	1	0	13912	1536	53	2	2828	2	SCN10A	3	38766807	Splice_Site	SNP	T	TCGA-FC-7708-01A-11D-2114-08		38766807	159255623	6	5418										
DNAJC13	23317	broad.mit.edu	37	chr3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atctaggtatgaatttttcaAtgagctttatcatcgcttct	6	7	4	2	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		Somatic					p.N855S	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	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	5	25	---	---	---	---	G	132196839	A	G	132196839	3	3	120	1	0	0	0	0	1	0	0	0	4632	101	4	2	2654	2	DNAJC13	3	132196839	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	93430032	132196839	65825591	7	5419										
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtctttgcactctgctatcAacagagttggccccagggct	11	12	3	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.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.V947V			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			Somatic				OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	p.V947V	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	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	3	166	---	---	---	---	C	146058891	A	C	146058891	2	2	120	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		146058891	45095385	8	5420										
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-													0	0	1	0	NA	0	1	1	0	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)tcatccaaggccatgggcatcdel		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		Somatic					p.SSKAMGI56del	NM_003518.3	NP_003509.1	WXS	Illumina GAIIx	Phase_I	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	120	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	9	5421										
SNRPC	6631	broad.mit.edu	37	chr6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccatatggggggccctcccAtgatgccaatgatgggccct	12	14	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.chr6:34738121A>T	ENST00000244520.5	+	5	442	c.304A>T	c.(304-306)Atg>Ttg	p.M102L	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000374017.3_Missense_Mutation_p.M123L	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		Somatic				SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L	p.M123L			WXS	Illumina GAIIx	Phase_I	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	16	90	---	---	---	---	T	34738121	A	T	34738121	3	4	120	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	10	5422										
MRPL2	51069	broad.mit.edu	37	chr6	43023654	43023654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctgcagctcggatatattgGgcaccccggcctggctcact	11	15	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.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	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			Somatic				MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	p.A204A	NM_015950.3	NP_057034.2	WXS	Illumina GAIIx	Phase_I	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	5	50	---	---	---	---	A	43023654	G	A	43023654	2	1	120	1	0	0	0	0	0	0	0	1	9785	1219	43	2		2	MRPL2	6	43023654	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	8285533	43023654	128091413	11	5423										
CHD7	55636	broad.mit.edu	37	chr8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgctgtgctgcccctgatGctgccaggaatggcgggcct	15	13	0	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.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		Somatic				CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	p.M2799I	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	A	61777895	G	A	61777895	3	1	120	1	0	0	0	0	1	0	0	0	3330	1319	46	2	8543	2	CHD7	8	61777895	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		61777895	84586127	12	5424										
CDH23	5660	broad.mit.edu	37	chr10	73574941	73574941	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgccgaggccactgccttcgAgcgcaacgcccgcacagaat	11	16	0	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_ENST00000475158.1_3'UTR|CDH23_ENST00000224721.6_Missense_Mutation_p.E3329A|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A			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			Somatic				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A	p.E3329A	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	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	4	16	---	---	---	---	C	73574941	A	C	73574941	1	2	120	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	13	5425										
NUP107	57122	broad.mit.edu	37	chr12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgacagtaactgggcagctGcattttcatcacagcgttcc	9	11	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.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.A84S	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		Somatic				NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	p.A113S	NM_020401.2	NP_065134.1	WXS	Illumina GAIIx	Phase_I	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	6	42	---	---	---	---	T	69085781	G	T	69085781	3	4	120	1	0	0	0	0	1	0	0	0	10753	1319	46	3	355	3	NUP107	12	69085781	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		69085781	64766114	14	5426										
C12orf51	283450	broad.mit.edu	37	chr12	112673539	112673539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcaagcagcagggagaggaGtttggacacacaagctggct	15	8	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.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		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.L1410F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1660F	p.L1686F	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					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	4	20	---	---	---	---	A	112673539	G	A	112673539	3	1	120	1	0	0	0	0	1	0	0	0	1696	1029	36	2	7926	2	C12orf51	12	112673539	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	43587758	112673539	21178356	15	5427										
C13orf18	80183	broad.mit.edu	37	chr13	46918950	46918950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcaaaattcacaaataaagCcctttccttgacacagctgt	6	11	1	1	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_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V	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		Somatic				KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G444V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G444V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G601V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G534V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G466V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A550S|KIAA0226L_ENST00000378781.3_3'UTR	p.G601V	NM_025113.2	NP_079389.2	WXS	Illumina GAIIx	Phase_I	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	3	25	---	---	---	---	A	46918950	C	A	46918950	3	1	120	1	0	0	0	0	1	0	0	0	1720	739	26	3	194	3	C13orf18	13	46918950	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		46918950	68250928	16	5428										
PCID2	55795	broad.mit.edu	37	chr13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	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_ENST00000375477.1_Frame_Shift_Del_p.P34fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375457.2_Frame_Shift_Del_p.P32fs|PCID2_ENST00000375479.2_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)cctfs		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		Somatic				PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs	p.P32fs	NM_001258213.1	NP_001245142.1	WXS	Illumina GAIIx	Phase_I	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	120	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	17	5429										
SLC7A8	23428	broad.mit.edu	37	chr14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcttttcggtgttgtttcggTgcctggctccttcttccatc	9	12	2	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.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R|C14orf164_ENST00000399910.1_5'Flank	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		Somatic				SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	p.H7R	NM_012244.3	NP_036376.2	WXS	Illumina GAIIx	Phase_I	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	6	186	---	---	---	---	C	23652104	T	C	23652104	3	2	120	1	0	0	0	0	1	0	0	0	14704	1696	59	2	1631	2	SLC7A8	14	23652104	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		23652104	83697436	18	5430										
RNF31	55072	broad.mit.edu	37	chr14	24619808	24619809	+	Splice_Site	INS	-	-	G													0	0	1	0	NA	0	1	1	0	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	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs|RNF31_ENST00000559275.1_Splice_Site_p.QG249fs	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.(1198-1203)cagggg>caGgggg		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			Somatic				RNF31_ENST00000559275.1_Splice_Site_p.QG249fs|RNF31_ENST00000382687.3_Splice_Site_p.QG249fs	p.QG400fs	NM_017999.4	NP_060469.4	WXS	Illumina GAIIx	Phase_I	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.1199_1200insG	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	120	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	19	5431										
SLC16A13	201232	broad.mit.edu	37	chr17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agttgttgctatttctgaccTcgtggggcgtgtggtctccg	14	9	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.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		Somatic					p.L263H	NM_201566.2	NP_963860.1	WXS	Illumina GAIIx	Phase_I	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	12	123	---	---	---	---	A	6941915	T	A	6941915	3	1	120	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	20	5432										
ZNF146	7705	broad.mit.edu	37	chr19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgggaaagctttcagccagAagtcacaccacattagacac	9	11	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.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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	44	---	---	---	---	T	36728180	A	T	36728180	4	4	120	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		36728180	22400803	21	5433										
FRMD7	90167	broad.mit.edu	37	chrX	131212858	131212858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgggatccgcctctggtttgGaatgctccagctcagttgca	12	11	2	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.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y	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		Somatic				FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y	p.S396Y	NM_194277.2	NP_919253.1	WXS	Illumina GAIIx	Phase_I	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	40	100	---	---	---	---	T	131212858	G	T	131212858	3	4	120	1	0	0	0	0	1	0	0	0	6055	1174	41	3	961	3	FRMD7	23	131212858	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		131212858	24057702	22	5434										
CA6	765	broad.mit.edu	37	chr1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gcaggacccagcccctgaacCacagagtggtggaatccaac	11	14	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.chr1:9031007C>T	ENST00000377443.2	+	7	815	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y	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		Somatic				CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y	p.H271Y	NM_001215.3	NP_001206.2	WXS	Illumina GAIIx	Phase_I	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			16	84	16	84	---	---	---	---	T	9031007	C	T	9031007	3	4	121	1	0	0	0	0	1	0	0	0	2521	594	21	2	837	2	CA6	1	9031007	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		9031007	240219614	1	5435										
NBPF10	100132406	broad.mit.edu	37	chr1	145368503	145368503	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	acaggactcactggatagatGttattcgactccgtcaatgt	9	9	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.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		Somatic				NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.3_Missense_Mutation_p.C612S	p.C3494S	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	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	703	10	703	---	---	---	---	C	145368503	G	C	145368503	3	2	121	1	0	0	0	0	1	0	0	0	10193	1377	48	4	10815	4	NBPF10	1	145368503	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	136337496	145368503	103882118	2	5436										
SMCP	4184	broad.mit.edu	37	chr1	152857072	152857072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ccaccaaaacacaatcactgCtgccagccaaaacccccatg	4	18	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.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			Somatic					p.C58C	NM_030663.2	NP_109588.2	WXS	Illumina GAIIx	Phase_I	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	214	18	214	---	---	---	---	T	152857072	C	T	152857072	2	4	121	1	0	0	0	0	0	0	0	1	14789	805	28	2		2	SMCP	1	152857072	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	7488569	152857072	96393549	3	5437										
INTS3	65123	broad.mit.edu	37	chr1	153732836	153732836	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	atgaagccccacccagccatCactgccacactcctggactt	6	18	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_ENST00000456435.1_Silent_p.I223I|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000512605.1_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			Somatic				INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000512605.1_Silent_p.I223I	p.I223I			WXS	Illumina GAIIx	Phase_I	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	58	5	58	---	---	---	---	A	153732836	C	A	153732836	2	1	121	1	0	0	0	0	0	0	0	1	7779	816	29	3		3	INTS3	1	153732836	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	875764	153732836	95517785	4	5438										
SPTA1	6708	broad.mit.edu	37	chr1	158605702	158605702	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ggccttctgtatcccactcaCcgggccttggccaactcttt	8	16	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.chr1:158605702C>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																																						ENST00000368147.4																			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			Somatic						NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	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	5	124	5	124	---	---	---	---	A	158605702	C	A	158605702	5	1	121	1	0	0	0	0	0	0	1	0	15115	521	18	3	1886	3	SPTA1	1	158605702	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	4872866	158605702	90644919	5	5439										
ZNF281	23528	broad.mit.edu	37	chr1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C													0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	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_ENST00000367353.1_Missense_Mutation_p.Q691E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E	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																																						ENST00000294740.3																			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		Somatic				ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E|ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E	p.Q691E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	WXS	Illumina GAIIx	Phase_I	Q9Y2X9	ZN281_HUMAN			2	2195	-								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	169	6	169	---	---	---	---	C	200376763	G	C	200376763	3	2	121	1	0	0	0	0	1	0	0	0	17815	1357	47	4	620	4	ZNF281	1	200376763	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	41771061	200376763	48873858	6	5440	10	2								
ZNF281	23528	broad.mit.edu	37	chr1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C													0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	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_ENST00000367353.1_Missense_Mutation_p.H688D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D	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																																						ENST00000294740.3																			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		Somatic				ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D|ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D	p.H688D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	WXS	Illumina GAIIx	Phase_I	Q9Y2X9	ZN281_HUMAN			2	2186	-								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	177	7	177	---	---	---	---	C	200376772	G	C	200376772	3	2	121	1	0	0	0	0	1	0	0	0	17815	1377	48	4	629	4	ZNF281	1	200376772	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	9	200376772	48873849	7	5441	10	2								
CSRP1	1465	broad.mit.edu	37	chr1	201453913	201453913	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ggcccgaagtttttagcataAcatcctgcagagagaggaga	12	8	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.chr1:201453913A>G	ENST00000367306.1	-	7	873	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000458271.2_5'Flank|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000532460.1_Silent_p.C170C			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			Somatic				CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C	p.C170C			WXS	Illumina GAIIx	Phase_I	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	28	6	28	---	---	---	---	G	201453913	A	G	201453913	2	3	121	1	0	0	0	0	0	0	0	1	3966	41	2	2		2	CSRP1	1	201453913	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	1077141	201453913	47796708	8	5442										
SPTBN1	6711	broad.mit.edu	37	chr2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ttccgccatctcctctgataAacacgaggtgtctgccagca	8	14	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.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	6711				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		Somatic					p.K2310R	NM_003128.2	NP_003119.2	WXS	Illumina GAIIx	Phase_I	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	66	27	66	---	---	---	---	G	54895540	A	G	54895540	3	3	121	1	0	0	0	0	1	0	0	0	15118	14	1	2	7267	2	SPTBN1	2	54895540	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		54895540	188303833	9	5443										
MTIF2	4528	broad.mit.edu	37	chr2	55489556	55489556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ataactgagatttccatggtCcttcttcctattaaaaaaat	4	8	1	1	rs373780283		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.chr2:55489556C>T	ENST00000263629.4	-	5	542	c.227G>A	c.(226-228)gGa>gAa	p.G76E	MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.G76E|MTIF2_ENST00000394600.3_Missense_Mutation_p.G76E	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	76					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						TTTCCATGGTCCTTCTTCCTA	0.318																																						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.(226-228)gGa>gAa		mitochondrial translational initiation factor 2							147	153	151					2																	55489556		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.chr2:55489556C>T	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.227G>A	2.37:g.55489556C>T	ENSP00000263629:p.Gly76Glu		Somatic				MTIF2_ENST00000263629.4_Missense_Mutation_p.G76E|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Missense_Mutation_p.G76E	p.G76E	NM_001005369.1	NP_001005369.1	WXS	Illumina GAIIx	Phase_I	P46199	IF2M_HUMAN			6	963	-			76					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.227G>A	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	1.616	-0.522861	0.04141	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.56275	0.47;0.47;0.47	5.79	2.04	0.26737	.	0.256059	0.35646	N	0.003065	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.24048	-1.0171	10	0.06891	T	0.86	-6.5767	5.4388	0.16496	0.0:0.4435:0.1361:0.4204	.	76	P46199	IF2M_HUMAN	E	76	ENSP00000384481:G76E;ENSP00000263629:G76E;ENSP00000378099:G76E	ENSP00000263629:G76E	G	-	2	0	MTIF2	55343060	0.012000	0.17670	0.288000	0.24862	0.780000	0.44128	0.041000	0.13927	0.098000	0.17522	0.563000	0.77884	GGA		0.318	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		5	103	5	103	---	---	---	---	T	55489556	C	T	55489556	3	4	121	1	0	0	0	0	1	0	0	0	9934	855	30	2	2004	2	MTIF2	2	55489556	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	594016	55489556	187709817	10	5444										
MTERFD2	130916	broad.mit.edu	37	chr2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	taactcctcaatgacccctcCattggaggctgtagtcagtt	8	12	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.chr2:242039186C>A	ENST00000391980.2	-	2	203	c.145G>T	c.(145-147)Gga>Tga	p.G49*	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*	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*		Somatic				MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron	p.G49*	NM_182501.3	NP_872307.2	WXS	Illumina GAIIx	Phase_I	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			9	94	9	94	---	---	---	---	A	242039186	C	A	242039186	4	1	121	1	0	0	0	0	0	1	0	0	9920	603	21	1	1012	1	MTERFD2	2	242039186	Nonsense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	186549630	242039186	1160187	11	5445										
CAV3	859	broad.mit.edu	37	chr3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tctgccacatctgggcggtgGtgccatgcattaagagctac	12	11	2	1	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|SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L	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		Somatic				CAV3_ENST00000397368.2_Missense_Mutation_p.V104L|CAV3_ENST00000472766.1_Intron	p.V104L	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	WXS	Illumina GAIIx	Phase_I	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	54	7	54	---	---	---	---	C	8787407	G	C	8787407	3	2	121	1	0	0	0	0	1	0	0	0	2695	1261	44	4	316	4	CAV3	3	8787407	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		8787407	189235023	12	5446										
BRPF1	7862	broad.mit.edu	37	chr3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G													0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	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_ENST00000433861.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000383829.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_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.(1792-1797)ttggagfs		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		Somatic				BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs	p.E599fs	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	P55201	BRPF1_HUMAN			5	2197_2198	+	Medulloblastoma(99;0.227)		599			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		52	99	52	99	---	---	---	---	G	9783063	-	G	9783062	7	5	121	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	13	5447										
NKTR	4820	broad.mit.edu	37	chr3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gcagaggccgaaccagaagcCggagcagttcctaccggagt	14	12	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.chr3:42684054C>T	ENST00000232978.8	+	14	4296	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	84	5	84	---	---	---	---	T	42684054	C	T	42684054	3	4	121	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	14	5448										
CCDC52	152185	broad.mit.edu	37	chr3	113172713	113172713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tatcaataggtaaggtcttcTcttcccaattttgttccttc	5	10	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.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		Somatic					p.E581G	NM_144718.3	NP_653319.1	WXS	Illumina GAIIx	Phase_I	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	92	4	92	---	---	---	---	C	113172713	T	C	113172713	3	2	121	1	0	0	0	0	1	0	0	0	2822	1551	54	2	845	2	CCDC52	3	113172713	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	70488659	113172713	84849717	15	5449										
ARHGAP31	57514	broad.mit.edu	37	chr3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ccctggagggtttactcccaGgacccccaggacctggacat	11	15	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.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		Somatic					p.Q1160H	NM_020754.2	NP_065805.2	WXS	Illumina GAIIx	Phase_I	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			30	40	30	40	---	---	---	---	C	119134256	G	C	119134256	3	2	121	1	0	0	0	0	1	0	0	0	880	991	35	4	3526	4	ARHGAP31	3	119134256	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	5961543	119134256	78888174	16	5450										
CLCN3	1182	broad.mit.edu	37	chr4	170625290	170625290	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gtgaggtcggggctgattgcAttacacctggcctttatgcc	13	10	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.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_ENST00000504131.2_Missense_Mutation_p.I552F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F	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	1182				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		Somatic				CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F	p.I569F	NM_001829.3	NP_001820.2	WXS	Illumina GAIIx	Phase_I	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	52	4	52	---	---	---	---	T	170625290	A	T	170625290	3	4	121	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	17	5451										
ANKRD55	79722	broad.mit.edu	37	chr5	55422829	55422829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	atatcgctgaagcccgctgcCgctgcgatatgtacacatgt	10	12	0	1	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	RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A	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			Somatic				ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A	p.A239A	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	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	135	4	135	---	---	---	---	T	55422829	C	T	55422829	2	4	121	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	18	5452										
PCDHGA9	56107	broad.mit.edu	37	chr5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	catcctggctgacctgggcaGtcttcagatccctgcagacc	10	15	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.chr5:140784549G>T	ENST00000573521.1	+	1	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_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	56107							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		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	p.S677I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	WXS	Illumina GAIIx	Phase_I			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		21	127	21	127	---	---	---	---	T	140784549	G	T	140784549	3	4	121	1	0	0	0	0	1	0	0	0	11561	1029	36	3	2032	3	PCDHGA9	5	140784549	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	85361720	140784549	40130711	19	5453										
SLC26A2	1836	broad.mit.edu	37	chr5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	cctccttcactattcttacaTctcaggccaagtatcttctt	3	14	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.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		Somatic					p.S267T	NM_000112.3	NP_000103.2	WXS	Illumina GAIIx	Phase_I	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		6	141	6	141	---	---	---	---	A	149359955	T	A	149359955	3	1	121	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	20	5454										
CCDC99	54908	broad.mit.edu	37	chr5	169015536	169015536	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gagtcaaaatgaattacagaAtcaattggataaatgtcgta	8	4	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.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		Somatic				SPDL1_ENST00000510751.1_3'UTR	p.N39I	NM_017785.4	NP_060255.3	WXS	Illumina GAIIx	Phase_I					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		16	45	16	45	---	---	---	---	T	169015536	A	T	169015536	3	4	121	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	21	5455										
MOG	4340	broad.mit.edu	37	chr6	29627139	29627139	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	agacaccctatccgggctctGgtcggggatgaagtggaatt	14	9	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.chr6:29627139G>C	ENST00000376917.3	+	2	361	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000376891.4_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			Somatic				MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron	p.L44L			WXS	Illumina GAIIx	Phase_I	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		63	208	63	208	---	---	---	---	C	29627139	G	C	29627139	2	2	121	1	0	0	0	0	0	0	0	1	9693	1335	47	4		4	MOG	6	29627139	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		29627139	141487928	22	5456										
UPP1	7378	broad.mit.edu	37	chr7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gctggtgcaggagctgttgcTgtgttctgcagagctgagcg	17	8	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.chr7:48146608T>C	ENST00000331803.4	+	8	1198	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P			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		Somatic				UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P	p.L192P			WXS	Illumina GAIIx	Phase_I	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		22	81	22	81	---	---	---	---	C	48146608	T	C	48146608	3	2	121	1	0	0	0	0	1	0	0	0	17009	1580	55	2	593	2	UPP1	7	48146608	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		48146608	110992055	23	5457										
CDCA2	157313	broad.mit.edu	37	chr8	25341516	25341516	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tttgaagcacctgcctttctAaatatgaggaagaggaagag	11	6	1	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			Somatic				CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR	p.L385L	NM_152562.2	NP_689775.2	WXS	Illumina GAIIx	Phase_I	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		13	35	13	35	---	---	---	---	C	25341516	A	C	25341516	2	2	121	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	24	5458										
CDCA2	157313	broad.mit.edu	37	chr8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	agcaaatactccattgcgtaAaggaggaacacctgtttgta	9	8	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.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		Somatic				CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR	p.K416I	NM_152562.2	NP_689775.2	WXS	Illumina GAIIx	Phase_I	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		23	67	23	67	---	---	---	---	T	25341608	A	T	25341608	3	4	121	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	25	5459										
C9orf100	84904	broad.mit.edu	37	chr9	35662653	35662653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ggcttggccatgaggagcacAtcagtgaagaggaagaacat	14	7	1	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.chr9:35662653A>G	ENST00000378387.3	-	7	876	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000343259.3_Intron	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			Somatic				ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron	p.D253D	NM_032818.2	NP_116207.2	WXS	Illumina GAIIx	Phase_I					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		6	19	6	19	---	---	---	---	G	35662653	A	G	35662653	2	3	121	1	0	0	0	0	0	0	0	1	2444	214	8	2		2	C9orf100	9	35662653	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		35662653	105550778	26	5460										
TLN1	7094	broad.mit.edu	37	chr9	35725562	35725562	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	accgggggagtcagactcacGaggaccagctggggcctctg	16	12	3	1	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.(130-132)Ccc>Tcc		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			Somatic				TLN1_ENST00000540444.1_Splice_Site_p.P44S	p.P44S	NM_006289.3	NP_006280.3	WXS	Illumina GAIIx	Phase_I	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.130C>T	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	49	100	49	100	---	---	---	---	A	35725562	G	A	35725562	5	1	121	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	27	5461										
MED27	9442	broad.mit.edu	37	chr9	134889831	134889831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tgctgatttaaaaggccagaTgctagtcctgcatggtactg	11	8	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.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			Somatic				MED27_ENST00000357028.2_Silent_p.A124A	p.A124A	NM_004269.3	NP_004260.2	WXS	Illumina GAIIx	Phase_I	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	36	6	36	---	---	---	---	C	134889831	T	C	134889831	2	2	121	1	0	0	0	0	0	0	0	1	9445	1451	51	2		2	MED27	9	134889831	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	99164269	134889831	6323600	28	5462										
PTEN	5728	broad.mit.edu	37	chr10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T													0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	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.(721-723)tttfs		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)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F241fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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		28	58	28	58	---	---	---	---	T	89717696	-	T	89717695	7	5	121	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	29	5463										
FAM196A	642938	broad.mit.edu	37	chr10	128973613	128973613	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	accacttccgtatgaggcacGattcgttggcattcttcacc	8	13	2	1	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	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.I349I	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			Somatic				DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.I349I	p.I349I	NM_001039762.2	NP_001034851.1	WXS	Illumina GAIIx	Phase_I	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	224	4	224	---	---	---	---	A	128973613	G	A	128973613	2	1	121	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	39255918	128973613	6561134	30	5464										
SLC22A11	55867	broad.mit.edu	37	chr11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gcaccctcctcttgcagtggGacctggtgtgcagctcccag	12	15	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.chr11:64326610G>A	ENST00000301891.4	+	2	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N	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		Somatic				SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N	p.D133N	NM_018484.2	NP_060954.1	WXS	Illumina GAIIx	Phase_I	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		31	78	31	78	---	---	---	---	A	64326610	G	A	64326610	3	1	121	1	0	0	0	0	1	0	0	0	14442	1174	41	2	403	2	SLC22A11	11	64326610	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		64326610	70679906	31	5465										
GUCY1A2	2977	broad.mit.edu	37	chr11	106810483	106810483	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gaggttccctgtggaaggttCttcatgatattagtattttc	10	6	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.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																																						ENST00000526355.2																			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			Somatic				GUCY1A2_ENST00000282249.2_Silent_p.K303K|GUCY1A2_ENST00000347596.2_Silent_p.K303K	p.K303K	NM_000855.2	NP_000846.1	WXS	Illumina GAIIx	Phase_I	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)						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	42	9	42	---	---	---	---	T	106810483	C	T	106810483	2	4	121	1	0	0	0	0	0	0	0	1	6893	912	32	2		2	GUCY1A2	11	106810483	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	42483873	106810483	28196033	32	5466										
CHD4	1108	broad.mit.edu	37	chr12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ggaagactgctgtctgtacaGttttcccaaggcccatctca	9	12	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.chr12:6703665G>A	ENST00000357008.2	-	15	2436	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_ENST00000309577.6_Missense_Mutation_p.T758I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I	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		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I	p.T758I			WXS	Illumina GAIIx	Phase_I	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	65	26	65	---	---	---	---	A	6703665	G	A	6703665	3	1	121	1	0	0	0	0	1	0	0	0	3327	1029	36	2	3569	2	CHD4	12	6703665	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6703665	127148230	33	5467										
SNAPC1	6617	broad.mit.edu	37	chr14	62233593	62233593	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tattttctctctgtttattaGtggcagaatgagaaatttag	8	4	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.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			Somatic				RP11-618G20.1_ENST00000555937.1_RNA		NM_003082.3	NP_003073.1	WXS	Illumina GAIIx	Phase_I	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	9	15	9	15	---	---	---	---	T	62233593	G	T	62233593	5	4	121	1	0	0	0	0	0	0	1	0	14834	1043	36	3	134	3	SNAPC1	14	62233593	Splice_Site	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		62233593	45115947	34	5468										
SEPX1	51734	broad.mit.edu	37	chr16	1990838	1990838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	atcgggactgccccggcttgGggccgtcgttcaggaactcg	15	13	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.chr16:1990838G>T	ENST00000361871.3	-	3	429	c.260C>A	c.(259-261)cCc>cAc	p.P87H	MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000564908.1_Silent_p.P133P|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		Somatic				MSRB1_ENST00000399753.2_Silent_p.P208P|MSRB1_ENST00000564908.1_Silent_p.P133P	p.P87H	NM_016332.2	NP_057416.1	WXS	Illumina GAIIx	Phase_I	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	78	6	78	---	---	---	---	T	1990838	G	T	1990838	3	4	121	1	0	0	0	0	1	0	0	0	14073	1232	43	1	98	1	SEPX1	16	1990838	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		1990838	88363915	35	5469										
PYCARD	29108	broad.mit.edu	37	chr16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ggctgccgactgaggaggggCctggatcccagctggcgcgg	19	12	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.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		Somatic				PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron	p.A102T	NM_013258.4	NP_037390.2	WXS	Illumina GAIIx	Phase_I	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	30	11	30	---	---	---	---	T	31213495	C	T	31213495	3	4	121	1	0	0	0	0	1	0	0	0	12854	739	26	2	291	2	PYCARD	16	31213495	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	29222657	31213495	59141258	36	5470										
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	12	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.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	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|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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_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	WXS	Illumina GAIIx	Phase_I	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		31	136	31	136	---	---	---	---	C	47696425	A	C	47696425	3	2	121	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	37	5471										
COX11	1353	broad.mit.edu	37	chr17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tcttggggattaagcctttgTtcttcaaaacagaagcactg	9	8	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.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		Somatic					p.E222D	NM_004375.3	NP_004366.1	WXS	Illumina GAIIx	Phase_I	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	67	7	67	---	---	---	---	G	53040259	T	G	53040259	3	3	121	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	38	5472										
USP32	84669	broad.mit.edu	37	chr17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	aattacttacctttactggtTcttgagttactaatggctga	7	7	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.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		Somatic				USP32_ENST00000592339.1_Missense_Mutation_p.E203A	p.E533A	NM_032582.3	NP_115971.2	WXS	Illumina GAIIx	Phase_I	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		16	33	16	33	---	---	---	---	G	58300782	T	G	58300782	3	3	121	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	39	5473										
DSC3	1825	broad.mit.edu	37	chr18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	agtccagggtatgatgatgcCcagccccccggcaggattcc	12	14	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.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		Somatic				DSC3_ENST00000360428.4_Missense_Mutation_p.G796E	p.G796E	NM_024423.2	NP_077741.2	WXS	Illumina GAIIx	Phase_I	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		13	42	13	42	---	---	---	---	T	28576863	C	T	28576863	3	4	121	1	0	0	0	0	1	0	0	0	4767	623	22	2	342	2	DSC3	18	28576863	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		28576863	49500385	40	5474										
TNFSF14	8740	broad.mit.edu	37	chr19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gcctcgtgaatgggatgtcgGtctgtccatccaccacaaac	10	13	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.chr19:6670031G>A	ENST00000599359.1	-	2	431	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I|TNFSF14_ENST00000326176.9_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	8740				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		Somatic				TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I	p.T17I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	WXS	Illumina GAIIx	Phase_I	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	137	6	137	---	---	---	---	A	6670031	G	A	6670031	3	1	121	1	0	0	0	0	1	0	0	0	16304	1261	44	2	688	2	TNFSF14	19	6670031	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6670031	52458952	41	5475										
FCGRT	2217	broad.mit.edu	37	chr19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gttctctggctgcagaatctCcagccaagtcctccgtgctc	9	15	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	RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|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		Somatic				FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A	p.P293A	NM_001136019.2	NP_001129491.1	WXS	Illumina GAIIx	Phase_I	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			13	137	13	137	---	---	---	---	G	50028719	C	G	50028719	3	3	121	1	0	0	0	0	1	0	0	0	5786	855	30	4	895	4	FCGRT	19	50028719	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	43358688	50028719	9100264	42	5476										
ZNF813	126017	broad.mit.edu	37	chr19	53993793	53993793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	acttagagtttcagtggcaaGaagatgaaagaaatagccat	10	5	1	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.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		Somatic				ZNF813_ENST00000396421.4_Intron	p.E103Q	NM_001004301.3	NP_001004301.2	WXS	Illumina GAIIx	Phase_I	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		38	108	38	108	---	---	---	---	C	53993793	G	C	53993793	3	2	121	1	0	0	0	0	1	0	0	0	18172	943	33	4	317	4	ZNF813	19	53993793	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	3965074	53993793	5135190	43	5477										
NLRP13	126204	broad.mit.edu	37	chr19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	gcgagccatcatccaagctcTcagagcgtgactcagatatg	10	12	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.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		Somatic				NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A	p.E324A			WXS	Illumina GAIIx	Phase_I	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		17	75	17	75	---	---	---	---	G	56424212	T	G	56424212	3	3	121	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	44	5478										
ZFP28	140612	broad.mit.edu	37	chr19	57065054	57065054	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	ttttcttggtatctttcaggCcagcgatctgtacatgagac	9	9	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.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.(898-900)ggC>ggG		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			Somatic				AC007228.11_ENST00000596587.1_RNA	p.G300G	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	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.900C>G	CCDS12946.1																																																																																				0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	Silent	8	53	8	53	---	---	---	---	G	57065054	C	G	57065054	5	3	121	1	0	0	0	0	0	0	1	0	17639	753	26	4	930	4	ZFP28	19	57065054	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	640842	57065054	2063929	45	5479										
EIF2S3	1968	broad.mit.edu	37	chrX	24075812	24075812	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0444444444444444	2	1	0.7032	1.00457142857143	0.540923076923077	1	1	0	tatagatcttgtgggagcagTacacctgacgagtttcctac	10	9	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.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			Somatic					p.S108S	NM_001415.3	NP_001406.1	WXS	Illumina GAIIx	Phase_I	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	34	4	34	---	---	---	---	C	24075812	T	C	24075812	2	2	121	1	0	0	0	0	0	0	0	1	5011	1635	57	2		2	EIF2S3	23	24075812	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		24075812	131194748	46	5480										
NADK	65220	broad.mit.edu	37	chr1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	ttcatcgctggcgatggcagGgtcttctagcactttctttt	10	10	4	0	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_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S|NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000344463.4_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		Somatic				NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S	p.P291S			WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	A	1688005	G	A	1688005	3	1	122	1	0	0	0	0	1	0	0	0	10137	1232	43	2	936	2	NADK	1	1688005	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		1688005	247562616	1	5481										
PADI3	51702	broad.mit.edu	37	chr1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	tacgttcaggcgccgcacaaGaccctcccggtggtctttga	11	14	2	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.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		Somatic					p.K362N	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	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	8	25	---	---	---	---	C	17599873	G	C	17599873	3	2	122	1	0	0	0	0	1	0	0	0	11379	933	33	4	1124	4	PADI3	1	17599873	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	15911868	17599873	231650748	2	5482										
SLC44A5	204962	broad.mit.edu	37	chr1	75805314	75805314	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gggtcatatgtccttggatcAcctgcatttaaaacaaagac	8	9	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.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.54T>C	c.(52-54)ggT>ggC	p.G18G	SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Splice_Site_p.G18G	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.(52-54)ggT>ggC		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			Somatic				SLC44A5_ENST00000370859.3_Splice_Site_p.G18G|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	p.G18G	NM_152697.4	NP_689910.2	WXS	Illumina GAIIx	Phase_I	Q8NCS7	CTL5_HUMAN			4	167	-			18					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Splice_Site	SNP	ENST00000370855.5	37	c.54T>C	CCDS667.1																																																																																				0.323	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	Silent	42	156	42	156	---	---	---	---	G	75805314	A	G	75805314	5	3	122	1	0	0	0	0	0	0	1	0	14639	173	6	2	2300	2	SLC44A5	1	75805314	Splice_Site	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	58205441	75805314	173445307	3	5483										
LRRTM1	347730	broad.mit.edu	37	chr2	80530543	80530543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	ctgcgcaggttgggcatgggCcggaaggtggtgttgggcag	21	7	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.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_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)	Somatic				CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	p.R134R	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	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	40	58	---	---	---	---	T	80530543	C	T	80530543	2	4	122	1	0	0	0	0	0	0	0	1	9039	726	26	2		2	LRRTM1	2	80530543	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		80530543	162668830	4	5484										
ZEB2	9839	broad.mit.edu	37	chr2	145156431	145156431	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	attactcctggagtggtccaAtttttcaactggtttaatat	7	7	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.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000409487.3_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			Somatic				ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L|ZEB2_ENST00000539609.3_Silent_p.L751L	p.L775L	NM_014795.3	NP_055610.1	WXS	Illumina GAIIx	Phase_I	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	46	154	---	---	---	---	G	145156431	A	G	145156431	2	3	122	1	0	0	0	0	0	0	0	1	17621	98	4	2		2	ZEB2	2	145156431	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	64625888	145156431	98042942	5	5485										
C2orf80	389073	broad.mit.edu	37	chr2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	tttgcgggcgtatgctgctgCtttgggtgctgttaacatgg	15	7	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.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		Somatic				C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	p.A144S	NM_001099334.2	NP_001092804	WXS	Illumina GAIIx	Phase_I	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	55	154	---	---	---	---	A	209036736	C	A	209036736	3	1	122	1	0	0	0	0	1	0	0	0	2197	797	28	3	163	3	C2orf80	2	209036736	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	63880305	209036736	34162637	6	5486										
GNAI2	2771	broad.mit.edu	37	chr3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	aacaccatccagtccatcatGgccattgtcaaagccatggg	8	13	2	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.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I	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		Somatic				GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I	p.M82I	NM_002070.2	NP_002061.1	WXS	Illumina GAIIx	Phase_I	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	19	32	---	---	---	---	C	50289913	G	C	50289913	3	2	122	1	0	0	0	0	1	0	0	0	6505	1348	47	4	267	4	GNAI2	3	50289913	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		50289913	147732517	7	5487										
NNT	23530	broad.mit.edu	37	chr5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gtgttgctgggcttgcttctGcaggcgcagcaaagtcgatg	15	9	1	0	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_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T	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		Somatic				NNT_ENST00000512996.2_Missense_Mutation_p.A112T|NNT_ENST00000344920.4_Missense_Mutation_p.A243T	p.A243T	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	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	89	141	---	---	---	---	A	43624173	G	A	43624173	3	1	122	1	0	0	0	0	1	0	0	0	10510	1319	46	2	745	2	NNT	5	43624173	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43624173	137291087	8	5488										
KIF13A	63971	broad.mit.edu	37	chr6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	ctatgccaaaaagctggataTcttgagaggtatctgcaccc	9	10	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.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		Somatic				KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	p.D479G	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	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	10	9	---	---	---	---	C	17828567	T	C	17828567	3	2	122	1	0	0	0	0	1	0	0	0	8274	1435	50	2	4110	2	KIF13A	6	17828567	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		17828567	153286500	9	5489										
KIAA0415	9907	broad.mit.edu	37	chr7	4824568	4824568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	cagagcaggagggctccactCtgtcggtgatctccgccacc	12	15	2	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.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		Somatic				AP5Z1_ENST00000401897.1_Missense_Mutation_p.L274V	p.L274V	NM_014855.2	NP_055670.1	WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	G	4824568	C	G	4824568	3	3	122	1	0	0	0	0	1	0	0	0	8175	912	32	4	846	4	KIAA0415	7	4824568	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		4824568	154314095	10	5490										
ZNF716	441234	broad.mit.edu	37	chr7	57528490	57528490	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gggcataaaagattcactccAaaaagtgatactgagaagat	9	6	1	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.chr7:57528490A>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		Somatic					p.Q108L	NM_001159279.1	NP_001152751.1	WXS	Illumina GAIIx	Phase_I					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	8	28	---	---	---	---	T	57528490	A	T	57528490	3	4	122	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	11	5491										
NUP205	23165	broad.mit.edu	37	chr7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	actaaatgaaatagaatcccGgtgtgaagaatacccattga	8	7	0	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.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		Somatic				NUP205_ENST00000440390.2_3'UTR	p.R697Q	NM_015135.2	NP_055950	WXS	Illumina GAIIx	Phase_I	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	38	159	---	---	---	---	A	135282771	G	A	135282771	3	1	122	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	12	5492										
STAU2	27067	broad.mit.edu	37	chr8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gctgccttcggattcccatgTctgctcaccaagactcagct	8	15	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.chr8:74601015T>C	ENST00000521419.1	-	4	340	c.34A>G	c.(34-36)Aca>Gca	p.T12A	RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000355780.5_Missense_Mutation_p.T18A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521210.1_Intron|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		Somatic				STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000521451.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR	p.T18A	NM_014393.2	NP_055208.2	WXS	Illumina GAIIx	Phase_I	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	52	174	---	---	---	---	C	74601015	T	C	74601015	3	2	122	1	0	0	0	0	1	0	0	0	15272	1667	58	2	1732	2	STAU2	8	74601015	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		74601015	71763007	13	5493										
ST3GAL1	6482	broad.mit.edu	37	chr8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gaaccaggccgagagcttgcGctgcccgatgcagtgggtgc	16	12	0	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_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000519435.1_5'Flank|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		Somatic				ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C	p.R68C			WXS	Illumina GAIIx	Phase_I	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	18	85	---	---	---	---	A	134488066	G	A	134488066	3	1	122	1	0	0	0	0	1	0	0	0	15213	1087	38	2	844	2	ST3GAL1	8	134488066	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	59887051	134488066	11875956	14	5494										
FAM196A	642938	broad.mit.edu	37	chr10	128973673	128973673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	ctaggctggttccccagcccCggcggggtgtgagtctgcga	16	13	1	1	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	FAM196A_ENST00000424811.2_Silent_p.P329P|DOCK1_ENST00000280333.6_Intron	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			Somatic				DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	p.P329P	NM_001039762.2	NP_001034851.1	WXS	Illumina GAIIx	Phase_I	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	55	67	---	---	---	---	T	128973673	C	T	128973673	2	4	122	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	15	5495										
LASS5	91012	broad.mit.edu	37	chr12	50536935	50536935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	accagcattggatttttcggAcattccaatccagctgcttt	7	11	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.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		Somatic				CERS5_ENST00000422340.2_Missense_Mutation_p.V61A	p.V119A	NM_147190.2	NP_671723.1	WXS	Illumina GAIIx	Phase_I	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	83	136	---	---	---	---	G	50536935	A	G	50536935	3	3	122	1	0	0	0	0	1	0	0	0	8642	275	10	2	854	2	LASS5	12	50536935	Missense_Mutation	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08		50536935	83314960	16	5496										
KBTBD7	84078	broad.mit.edu	37	chr13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-													0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	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)gcafs		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		Somatic					p.A419fs	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	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	122	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		41767137	73402741	17	5497										
MYCBP2	23077	broad.mit.edu	37	chr13	77853046	77853046	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	acaaaggccaacctcaataaTctatttaaaaggaaaaaata	4	7	2	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.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.(595-597)Att>Gtt		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			Somatic				MYCBP2_ENST00000357337.6_Splice_Site_p.I161V|MYCBP2_ENST00000544440.2_Splice_Site_p.I161V|MYCBP2_ENST00000360084.5_5'UTR	p.I199V	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	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.595A>G		.	.	.	.	.	.	.	.	.	.	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	10	25	---	---	---	---	C	77853046	T	C	77853046	5	2	122	1	0	0	0	0	0	0	1	0	10018	1449	50	2	13761	2	MYCBP2	13	77853046	Splice_Site	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	36085909	77853046	37316832	18	5498										
C14orf21	161424	broad.mit.edu	37	chr14	24769365	24769365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	tgggatatttccgccgggcgCtgtcagcattgaaagaggct	14	9	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.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			Somatic				NOP9_ENST00000396802.3_Silent_p.L69L	p.L69L	NM_174913.1	NP_777573.1	WXS	Illumina GAIIx	Phase_I					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	42	87	---	---	---	---	T	24769365	C	T	24769365	2	4	122	1	0	0	0	0	0	0	0	1	1769	796	28	2		2	C14orf21	14	24769365	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		24769365	82580175	19	5499										
ACACA	31	broad.mit.edu	37	chr17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	tgggatacttagttctactgTtcgggtttctacagcaacaa	9	8	2	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.chr17:35479506T>C	ENST00000394406.2	-	49	6164	c.5974A>G	c.(5974-5976)Aca>Gca	p.T1992A	ACACA_ENST00000353139.5_Missense_Mutation_p.T2029A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	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		Somatic				ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A	p.T2029A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	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	20	73	---	---	---	---	C	35479506	T	C	35479506	3	2	122	1	0	0	0	0	1	0	0	0	106	1725	60	2	1098	2	ACACA	17	35479506	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		35479506	45715704	20	5500										
PRKAR1A	5573	broad.mit.edu	37	chr17	66519943	66519943	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gtgctgttttcacatcttgaTgataatgagagaaggtagga	12	4	2	4	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_ENST00000392711.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_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			Somatic				PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000392711.1_Silent_p.D142D	p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	WXS	Illumina GAIIx	Phase_I	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	12	21	---	---	---	---	C	66519943	T	C	66519943	2	2	122	1	0	0	0	0	0	0	0	1	12503	1461	51	2		2	PRKAR1A	17	66519943	Silent	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	31040437	66519943	14675267	21	5501										
ZNF236	7776	broad.mit.edu	37	chr18	74620423	74620423	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	cagacggcagaggtggtcgcAgcgaaccccgaggccatgct	15	13	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.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			Somatic				ZNF236_ENST00000320610.9_Silent_p.A815A	p.A813A	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	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	40	39	---	---	---	---	G	74620423	A	G	74620423	2	3	122	1	0	0	0	0	0	0	0	1	17786	175	7	2		2	ZNF236	18	74620423	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08		74620423	3456825	22	5502										
PSG7	5676	broad.mit.edu	37	chr19	43439764	43439764	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	gatgtaacataatggtagagGtccctgatttgtcctttgta	10	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.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																																						ENST00000446844.3																			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			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	311	-		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	48	152	---	---	---	---	A	43439764	G	A	43439764	1	1	122	0	1	0	0	0	0	0	0	0	12660	1252	44	2		2	PSG7	19	43439764	RNA	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43439764	15689219	23	5503										
CACNG7	59284	broad.mit.edu	37	chr19	54444869	54444869	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.35310734463277	5.41242937853107	0	0.333333333333333	1	0	tcctccttcctactcaaagaGgtgacgtccgtgggacctag	10	13	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.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570G>A	c.(568-570)gaG>gaA	p.E190E	CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_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.(568-570)gaG>gaA		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			Somatic				CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190E	p.E190E			WXS	Illumina GAIIx	Phase_I	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.570G>A	CCDS12868.1																																																																																				0.552	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		Silent	4	77	4	77	---	---	---	---	A	54444869	G	A	54444869	5	1	122	1	0	0	0	0	0	0	1	0	2562	1014	35	2	584	2	CACNG7	19	54444869	Splice_Site	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	11005105	54444869	4684114	24	5504										
NR1I3	9970	broad.mit.edu	37	chr1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	gactctcacctgaagaaaccCttgcagccctcacaagtcag	7	15	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.chr1:161206260C>G	ENST00000367982.4	-	2	251	c.96G>C	c.(94-96)aaG>aaC	p.K32N	NR1I3_ENST00000367983.4_Missense_Mutation_p.K32N|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000502985.1_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	9970				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		Somatic				NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N	p.K32N			WXS	Illumina GAIIx	Phase_I	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	40	53	---	---	---	---	G	161206260	C	G	161206260	3	3	123	1	0	0	0	0	1	0	0	0	10621	680	24	4	1104	4	NR1I3	1	161206260	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		161206260	88044361	1	5505										
SPEG	10290	broad.mit.edu	37	chr2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	agcccgtgcgcccagaccagCggcgctttgcggaggaggct	16	14	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_ENST00000396698.1_Missense_Mutation_p.R810W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W	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		Somatic				SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W	p.R914W	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	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	30	73	---	---	---	---	T	220329189	C	T	220329189	3	4	123	1	0	0	0	0	1	0	0	0	15035	759	27	2	2774	2	SPEG	2	220329189	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		220329189	22870184	2	5506										
SGOL1	151648	broad.mit.edu	37	chr3	20215804	20215804	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	atctgtgtatttcagtgctcTtttagctagaggcctggtga	11	7	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.chr3:20215804T>G	ENST00000263753.4	-	6	1358	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412997.1_Silent_p.R407R|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000452020.1_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			Somatic				SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000417364.1_Intron	p.R407R	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	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	7	94	---	---	---	---	G	20215804	T	G	20215804	2	3	123	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	3	5507										
BCHE	590	broad.mit.edu	37	chr3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-													0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	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)aatfs		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		Somatic				BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	p.N580fs	NM_000055.2	NP_000046.1	WXS	Illumina GAIIx	Phase_I	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	123	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	4	5508										
RANBP17	64901	broad.mit.edu	37	chr5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	ggtatggagagccaacatgtAcaactcccatcttgaaactt	8	10	1	2	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		Somatic				RANBP17_ENST00000521759.1_3'UTR	p.T766A	NM_022897.3	NP_075048.1	WXS	Illumina GAIIx	Phase_I	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	47	63	---	---	---	---	G	170640699	A	G	170640699	3	3	123	1	0	0	0	0	1	0	0	0	13027	391	14	2	2378	2	RANBP17	5	170640699	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		170640699	10274561	5	5509										
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	gcacaccctccagtggggccAgcacagccaccaactctgac	9	18	1	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.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		Somatic				MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	WXS	Illumina GAIIx	Phase_I	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	5	338	---	---	---	---	G	30954349	A	G	30954349	3	3	123	1	0	0	0	0	1	0	0	0	9977	188	7	2	403	2	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		30954349	140160718	6	5510										
PAQR8	85315	broad.mit.edu	37	chr6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	tgccttctgtggctggttatCttgtgctggctgttgctatg	13	8	2	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.chr6:52268580C>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		Somatic				PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	p.S190C	NM_133367.4	NP_588608.1	WXS	Illumina GAIIx	Phase_I	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	4	86	---	---	---	---	G	52268580	C	G	52268580	3	3	123	1	0	0	0	0	1	0	0	0	11441	913	32	4	571	4	PAQR8	6	52268580	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	21314231	52268580	118846487	7	5511			1	14		3	3	138	C		5.598997e-09
PAQR8	85315	broad.mit.edu	37	chr6	52268632	52268632	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	taccggaggccttatccagtCatgaggaagatctgtcaagt	11	9	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.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			Somatic				PAQR8_ENST00000360726.3_Silent_p.V207V	p.V207V	NM_133367.4	NP_588608.1	WXS	Illumina GAIIx	Phase_I	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	5	83	---	---	---	---	T	52268632	C	T	52268632	2	4	123	1	0	0	0	0	0	0	0	1	11441	813	29	2		2	PAQR8	6	52268632	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	52	52268632	118846435	8	5512			1	14		3	3	138	C		5.598997e-09
PAQR8	85315	broad.mit.edu	37	chr6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	cacaccgtgtggcgctctgtCacctggctggctgccaggag	14	14	2	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		Somatic				PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	p.H236Y	NM_133367.4	NP_588608.1	WXS	Illumina GAIIx	Phase_I	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	5	63	---	---	---	---	T	52268717	C	T	52268717	3	4	123	1	0	0	0	0	1	0	0	0	11441	826	29	2	708	2	PAQR8	6	52268717	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	85	52268717	118846350	9	5513			1	14		3	3	138	C		5.598997e-09
TSGA13	114960	broad.mit.edu	37	chr7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	gttctcagtgggtttgtgctGatgatgactttcctgtaggg	14	6	1	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.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*		Somatic				TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*	p.Q134*			WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	A	130357704	G	A	130357704	4	1	123	1	0	0	0	0	0	1	0	0	16616	1299	45	2	439	2	TSGA13	7	130357704	Nonsense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		130357704	28780959	10	5514										
BARHL1	56751	broad.mit.edu	37	chr9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	ctccattctctcccaccgcgCgggcagccccgcccttccca	7	23	1	0	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		Somatic				BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	p.A17V	NM_020064.3	NP_064448.1	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	T	135458234	C	T	135458234	3	4	123	1	0	0	0	0	1	0	0	0	1313	768	27	2	52	2	BARHL1	9	135458234	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		135458234	5755197	11	5515										
AGAP11	119385	broad.mit.edu	37	chr10	88768854	88768854	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	tatgattgtgtccgtcactgGccaaacgtgccactttaaag	9	10	1	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.chr10:88768854G>A	ENST00000444431.1	+	0	3454				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)										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			Somatic				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina GAIIx	Phase_I	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	5	194	---	---	---	---	A	88768854	G	A	88768854	1	1	123	0	1	0	0	0	0	0	0	0	367	1203	42	2		2	AGAP11	10	88768854	RNA	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		88768854	46765893	12	5516										
FAT3	120114	broad.mit.edu	37	chr11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	agtttctcacacttacatccGcgtgcgagtcattgaggaaa	9	10	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.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)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H	p.R3538H			WXS	Illumina GAIIx	Phase_I	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	10	237	---	---	---	---	A	92577146	G	A	92577146	3	1	123	1	0	0	0	0	1	0	0	0	5691	1087	38	2	10683	2	FAT3	11	92577146	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		92577146	42429370	13	5517										
SRGAP1	57522	broad.mit.edu	37	chr12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	ttttaggtgaaaatcctttgGctgatgaccagagtaaccat	9	7	0	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		Somatic				SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T	p.A565T	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---	A	64491035	G	A	64491035	3	1	123	1	0	0	0	0	1	0	0	0	15144	1203	42	2	1751	2	SRGAP1	12	64491035	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		64491035	69360860	14	5518										
RIMBP2	23504	broad.mit.edu	37	chr12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	ggcgcccctcctcttgaagtCtggagagtcataggcgtcct	12	13	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.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		Somatic				RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y	p.D714Y	NM_015347.4	NP_056162.4	WXS	Illumina GAIIx	Phase_I	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	7	159	---	---	---	---	A	130919341	C	A	130919341	3	1	123	1	0	0	0	0	1	0	0	0	13363	913	32	3	1054	3	RIMBP2	12	130919341	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	66428306	130919341	2932554	15	5519										
SLC10A2	6555	broad.mit.edu	37	chr13	103701637	103701637	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	tgggattggcatgattccttAcatcctaagaatattgcggc	10	8	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.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			Somatic						NM_000452.2	NP_000443	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	G	103701637	A	G	103701637	5	3	123	1	0	0	0	0	0	0	1	0	14374	405	14	2	133	2	SLC10A2	13	103701637	Splice_Site	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		103701637	11468241	16	5520										
HERC2	8924	broad.mit.edu	37	chr15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	tgtctcggatgtacatgagtCcaggaataaaatccttatca	8	8	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.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		Somatic					p.G4582E	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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	13	61	---	---	---	---	T	28359926	C	T	28359926	3	4	123	1	0	0	0	0	1	0	0	0	7058	855	30	2	775	2	HERC2	15	28359926	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		28359926	74171466	17	5521										
FMN1	342184	broad.mit.edu	37	chr15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	aggagatattcagctttttgGgtactaattgattacttctg	9	5	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.chr15:33261413G>T	ENST00000559047.1	-	5	2488	c.2489C>A	c.(2488-2490)cCc>cAc	p.P830H	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000334528.9_Missense_Mutation_p.P607H			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		Somatic				FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000559047.1_Missense_Mutation_p.P830H	p.P607H	NM_001103184.2	NP_001096654.1	WXS	Illumina GAIIx	Phase_I	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	99	133	---	---	---	---	T	33261413	G	T	33261413	3	4	123	1	0	0	0	0	1	0	0	0	5949	1232	43	1	1826	1	FMN1	15	33261413	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	4901487	33261413	69269979	18	5522										
BUB1B	701	broad.mit.edu	37	chr15	40501921	40501921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	ttaagtgcctctgcagagttGtgtatagaagacagaccaat	10	7	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.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			Somatic				BUB1B_ENST00000412359.3_Silent_p.L757L	p.L743L	NM_001211.5	NP_001202	WXS	Illumina GAIIx	Phase_I	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	39	61	---	---	---	---	A	40501921	G	A	40501921	2	1	123	1	0	0	0	0	0	0	0	1	1571	1368	48	2		2	BUB1B	15	40501921	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7240508	40501921	62029471	19	5523										
NXN	64359	broad.mit.edu	37	chr17	722762	722762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	gccagggcatctcactgaagTactgtttgaaggactcctcc	10	12	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.chr17:722762T>C	ENST00000336868.3	-	5	828	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_ENST00000575801.1_Missense_Mutation_p.Y138C|NXN_ENST00000537628.2_5'UTR|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		Somatic				NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C|NXN_ENST00000538650.1_5'UTR	p.Y246C	NM_022463.4	NP_071908.2	WXS	Illumina GAIIx	Phase_I	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	29	66	---	---	---	---	C	722762	T	C	722762	3	2	123	1	0	0	0	0	1	0	0	0	10787	1638	57	2	586	2	NXN	17	722762	Missense_Mutation	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		722762	80472448	20	5524										
FKBP10	60681	broad.mit.edu	37	chr17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	acaaggaagacaccgtgcagGtgagcacattgctgcgcccg	13	12	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.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		Somatic					p.V158L	NM_021939.3	NP_068758.3	WXS	Illumina GAIIx	Phase_I	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	27	28	---	---	---	---	T	39974421	G	T	39974421	3	4	123	1	0	0	0	0	1	0	0	0	5902	1261	44	3	482	3	FKBP10	17	39974421	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	39251659	39974421	41220789	21	5525										
FDXR	2232	broad.mit.edu	37	chr17	72858969	72858969	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	aggaggcgcagcatctcctgAggatccaccagcttctccct	10	15	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.chr17:72858969A>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_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000582944.1_Silent_p.P474P|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000442102.2_Silent_p.P525P|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000583917.1_Silent_p.P454P	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			Somatic				FDXR_ENST00000582944.1_Silent_p.P474P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000581530.1_Silent_p.P488P	p.P525P	NM_001258012.1	NP_001244941.1	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	C	72858969	A	C	72858969	2	2	123	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	22	5526										
ZNF714	148206	broad.mit.edu	37	chr19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	tgagtgtaaggtgtacaaaaAaggttatgaactaaaccagt	10	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.chr19:21299769A>T	ENST00000596143.1	+	5	624	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_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		Somatic				ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	p.K100I	NM_182515.3	NP_872321	WXS	Illumina GAIIx	Phase_I	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	13	27	---	---	---	---	T	21299769	A	T	21299769	3	4	123	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		21299769	37829214	23	5527										
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	4	0.930579858446434	2.34285714285714	3.51428571428571	2.10857142857143	0.523809523809524	1	0	cgtgccccccaggcaccttcTcagccagcagctccagctca	8	20	2	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.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		Somatic				RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.S159T	NM_003823.3	NP_003814.1	WXS	Illumina GAIIx	Phase_I	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	11	22	---	---	---	---	A	62328731	T	A	62328731	3	1	123	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	24	5528										
PIK3R3	8503	broad.mit.edu	37	chr1	46546396	46546396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttggaactgctgaagtcaTtggcttaggtggctttggtg	14	5	1	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.chr1:46546396T>C	ENST00000262741.5	-	2	822	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V	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		Somatic				PIK3R3_ENST00000420542.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M91V|PIK3R3_ENST00000423209.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000354242.4_Missense_Mutation_p.M45V|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M45V|PIK3R3_ENST00000340332.6_Intron	p.M45V	NM_003629.3	NP_003620.3	WXS	Illumina GAIIx	Phase_I	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	7	252	---	---	---	---	C	46546396	T	C	46546396	3	2	124	1	0	0	0	0	1	0	0	0	11920	1493	52	2	1288	2	PIK3R3	1	46546396	Missense_Mutation	SNP	T	TCGA-FC-A8O0-01A-41D-A377-08		46546396	202704225	1	5529										
VWA3B	200403	broad.mit.edu	37	chr2	98844684	98844684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatgaagatctgactctttTagttaaggaaatggaacagg	11	4	2	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		Somatic					p.L680S	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	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	29	45	---	---	---	---	C	98844684	T	C	98844684	3	2	124	1	0	0	0	0	1	0	0	0	17238	1764	61	2	2093	2	VWA3B	2	98844684	Missense_Mutation	SNP	T	TCGA-FC-A8O0-01A-41D-A377-08		98844684	144354689	2	5530										
ADAM29	11086	broad.mit.edu	37	chr4	175898876	175898876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttacctccccagagtcaaCcttgggtgatgccttcccag	9	14	1	2	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_ENST00000445694.1_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P734T|ADAM29_ENST00000404450.4_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		Somatic				ADAM29_ENST00000404450.4_Missense_Mutation_p.P734T|ADAM29_ENST00000514159.1_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	WXS	Illumina GAIIx	Phase_I	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	44	50	---	---	---	---	A	175898876	C	A	175898876	3	1	124	1	0	0	0	0	1	0	0	0	247	507	18	3	2202	3	ADAM29	4	175898876	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		175898876	15255400	3	5531										
CEP120	153241	broad.mit.edu	37	chr5	122682431	122682431	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatcctggtattgtttttGctcttgttgccttaacctga	9	8	1	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.chr5:122682431G>C	ENST00000306467.5	-	20	3047	c.2743C>G	c.(2743-2745)Caa>Gaa	p.Q915E	CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E|CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E			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		Somatic				CEP120_ENST00000328236.5_Missense_Mutation_p.Q915E|CEP120_ENST00000306481.6_Missense_Mutation_p.Q889E	p.Q915E			WXS	Illumina GAIIx	Phase_I	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	30	44	---	---	---	---	C	122682431	G	C	122682431	3	2	124	1	0	0	0	0	1	0	0	0	3246	1328	46	4	221	4	CEP120	5	122682431	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08		122682431	58232829	4	5532										
HNRNPH1	3187	broad.mit.edu	37	chr5	179043911	179043911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttggctaccataagcaccaCcgcttgctcctgctgtagaa	8	13	0	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.chr5:179043911C>T	ENST00000356731.5	-	10	2701	c.1166G>A	c.(1165-1167)gGt>gAt	p.G389D	HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000510411.1_Intron			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		Somatic				HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G389D|HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G389D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G389D	p.G389D			WXS	Illumina GAIIx	Phase_I	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	25	101	---	---	---	---	T	179043911	C	T	179043911	3	4	124	1	0	0	0	0	1	0	0	0	7266	507	18	2	195	2	HNRNPH1	5	179043911	Missense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	56361480	179043911	1871349	5	5533										
DAAM2	23500	broad.mit.edu	37	chr6	39869131	39869131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacagcaagatgcagccagaCgaattctttggcatctttga	10	9	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|DAAM2_ENST00000538976.1_Silent_p.D954D|RP11-61I13.3_ENST00000437947.1_RNA			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			Somatic				DAAM2_ENST00000398904.2_Silent_p.D955D|DAAM2_ENST00000274867.4_Silent_p.D955D	p.D954D	NM_015345.3	NP_056160.2	WXS	Illumina GAIIx	Phase_I	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	6	161	---	---	---	---	T	39869131	C	T	39869131	2	4	124	1	0	0	0	0	0	0	0	1	4216	535	19	2		2	DAAM2	6	39869131	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		39869131	131245936	6	5534										
ENPP5	59084	broad.mit.edu	37	chr6	46129452	46129452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgggctaaaaatattggatGcatatctgctaacgcattat	8	6	1	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.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		Somatic				ENPP5_ENST00000230565.3_Missense_Mutation_p.H349Y	p.H349Y			WXS	Illumina GAIIx	Phase_I	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	84	172	---	---	---	---	A	46129452	G	A	46129452	3	1	124	1	0	0	0	0	1	0	0	0	5133	1319	46	2	392	2	ENPP5	6	46129452	Missense_Mutation	SNP	G	TCGA-FC-A8O0-01A-41D-A377-08	6260321	46129452	124985615	7	5535										
ANGPT2	285	broad.mit.edu	37	chr8	6360776	6360776	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggaccacatgcatcaaacCaccagcctgtgaaagtaaaa	7	11	1	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_ENST00000415216.1_Nonsense_Mutation_p.W445*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|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*		Somatic				ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.W445*|ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.W394*|MCPH1_ENST00000344683.5_Intron	p.W446*			WXS	Illumina GAIIx	Phase_I	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	9	92	---	---	---	---	T	6360776	C	T	6360776	4	4	124	1	0	0	0	0	0	1	0	0	611	595	21	2	157	2	ANGPT2	8	6360776	Nonsense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		6360776	140003246	8	5536										
TRPS1	7227	broad.mit.edu	37	chr8	116632180	116632180	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctgatctgcagaaaattCtttgttctttccagatacct	5	10	4	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.chr8:116632180C>A	ENST00000220888.5	-	2	265	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.E49*|TRPS1_ENST00000519674.1_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*		Somatic				TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E36*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E40*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.E36*	p.E49*	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	WXS	Illumina GAIIx	Phase_I	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	15	49	---	---	---	---	A	116632180	C	A	116632180	4	1	124	1	0	0	0	0	0	1	0	0	16590	922	32	3	3759	3	TRPS1	8	116632180	Nonsense_Mutation	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	110271404	116632180	29731842	9	5537										
SLC22A9	114571	broad.mit.edu	37	chr11	63176239	63176239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagtgtgtattctccacccCtgccctggatcatctatgga	8	12	3	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.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			Somatic				SLC22A9_ENST00000310969.4_3'UTR	p.L497L	NM_080866.2	NP_543142.2	WXS	Illumina GAIIx	Phase_I	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	23	41	---	---	---	---	T	63176239	C	T	63176239	2	4	124	1	0	0	0	0	0	0	0	1	14461	680	24	2		2	SLC22A9	11	63176239	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		63176239	71830277	10	5538										
PARP11	57097	broad.mit.edu	37	chr12	3923277	3923277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcagattgcttccacaaatTcactgctggtaccatgaaac	7	11	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.chr12:3923277T>A	ENST00000228820.4	-	7	770	c.626A>T	c.(625-627)gAa>gTa	p.E209V	PARP11_ENST00000397096.2_Missense_Mutation_p.E202V|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000476985.1_5'UTR	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		Somatic				PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000447133.3_Missense_Mutation_p.E128V|PARP11_ENST00000427057.2_Missense_Mutation_p.E128V|PARP11_ENST00000397096.2_Missense_Mutation_p.E202V	p.E209V	NM_020367.4	NP_065100.2	WXS	Illumina GAIIx	Phase_I	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	8	55	---	---	---	---	A	3923277	T	A	3923277	3	1	124	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	11	5539										
ARHGAP5	394	broad.mit.edu	37	chr14	32561297	32561297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggctgatagcaaagaggtAtatggtaggcatcagcgaga	15	5	1	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.chr14:32561297A>G	ENST00000345122.3	+	2	1737	c.1422A>G	c.(1420-1422)gtA>gtG	p.V474V	ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_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			Somatic				ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.V474V|ARHGAP5_ENST00000539826.2_Silent_p.V474V|ARHGAP5_ENST00000432921.1_Silent_p.V474V|ARHGAP5_ENST00000396582.2_Intron	p.V474V	NM_001030055.1	NP_001025226.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	G	32561297	A	G	32561297	2	3	124	1	0	0	0	0	0	0	0	1	886	436	16	2		2	ARHGAP5	14	32561297	Silent	SNP	A	TCGA-FC-A8O0-01A-41D-A377-08		32561297	74788243	12	5540										
KRT35	3886	broad.mit.edu	37	chr17	39635635	39635635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaggcagagcagctcctcCttcagggactccacctgggc	11	15	2	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.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			Somatic				KRT35_ENST00000393989.1_Silent_p.K225K	p.K195K			WXS	Illumina GAIIx	Phase_I	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	3	74	---	---	---	---	T	39635635	C	T	39635635	2	4	124	1	0	0	0	0	0	0	0	1	8472	680	24	2		2	KRT35	17	39635635	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08		39635635	41559575	13	5541										
TTLL6	284076	broad.mit.edu	37	chr17	46862423	46862423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaactgaagggcttcgcagaCgtcagcttggggaaaacaga	14	8	1	3	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			Somatic				TTLL6_ENST00000433608.2_Silent_p.T327T	p.T634T	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	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	4	108	---	---	---	---	T	46862423	C	T	46862423	2	4	124	1	0	0	0	0	0	0	0	1	16728	523	19	2		2	TTLL6	17	46862423	Silent	SNP	C	TCGA-FC-A8O0-01A-41D-A377-08	7226788	46862423	34332787	14	5542										
TTC13	79573	broad.mit.edu	37	chr1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tttatatgcatcaataaagtCaactttctgcttcaaagctt	4	8	4	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.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		Somatic				TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	p.D315Y	NM_024525.4	NP_078801.3	WXS	Illumina GAIIx	Phase_I	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	9	98	---	---	---	---	A	231069565	C	A	231069565	3	1	125	1	0	0	0	0	1	0	0	0	16677	826	29	3	1699	3	TTC13	1	231069565	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08		231069565	18181056	1	5543										
RAB3GAP1	22930	broad.mit.edu	37	chr2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cagcgaatctaagtgcaaccTtcttctgagttctgtttcta	7	10	5	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.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR	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		Somatic				RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R	p.L147R	NM_012233.2	NP_036365.1	WXS	Illumina GAIIx	Phase_I	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	16	111	---	---	---	---	G	135870798	T	G	135870798	3	3	125	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	2	5544										
THSD7B	80731	broad.mit.edu	37	chr2	137814555	137814555	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cccatttcctgtcctcttggGgaagaggaatatacatttag	9	9	1	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.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G			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			Somatic				THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G	p.G235G			WXS	Illumina GAIIx	Phase_I				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	32	254	---	---	---	---	T	137814555	G	T	137814555	2	4	125	1	0	0	0	0	0	0	0	1	15877	1219	43	1		1	THSD7B	2	137814555	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	1943757	137814555	105384818	3	5545										
ALS2CR8	79800	broad.mit.edu	37	chr2	203839140	203839140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	ttttccaactgtaaatgataTaaaaaatcacatccatgagg	5	7	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.chr2:203839140T>C	ENST00000402905.3	+	12	1736	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000320443.8_Missense_Mutation_p.I472T	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																																						ENST00000402905.3																			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		Somatic				CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000320443.8_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T	p.I472T	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	WXS	Illumina GAIIx	Phase_I					12	1736	+								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	8	65	---	---	---	---	C	203839140	T	C	203839140	3	2	125	1	0	0	0	0	1	0	0	0	555	1406	49	2	1453	2	ALS2CR8	2	203839140	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08	66024585	203839140	39360233	4	5546										
ATIC	471	broad.mit.edu	37	chr2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tttgaatctggtcgcttccgGagggactgcaaaagctctca	11	10	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.chr2:216177305G>A	ENST00000236959.9	+	2	430	c.104G>A	c.(103-105)gGa>gAa	p.G35E	ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000435675.1_Missense_Mutation_p.G34E	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		Somatic				ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000236959.9_Missense_Mutation_p.G35E	p.G34E			WXS	Illumina GAIIx	Phase_I	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	20	84	---	---	---	---	A	216177305	G	A	216177305	3	1	125	1	0	0	0	0	1	0	0	0	1105	1174	41	2	110	2	ATIC	2	216177305	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	12338165	216177305	27022068	5	5547										
ZBTB11	27107	broad.mit.edu	37	chr3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cagctatacatcctactgatGacagggcagattcagcctct	8	12	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.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*		Somatic					p.S397*	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	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	13	106	---	---	---	---	C	101384241	G	C	101384241	4	2	125	1	0	0	0	0	0	1	0	0	17521	1294	45	4	2003	4	ZBTB11	3	101384241	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		101384241	96638189	6	5548										
EDNRA	1909	broad.mit.edu	37	chr4	148407185	148407185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tgaggaatggccccaacgcgCtgatagccagtcttgccctt	11	13	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.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	15	86	---	---	---	---	T	148407185	C	T	148407185	2	4	125	1	0	0	0	0	0	0	0	1	4919	796	28	2		2	EDNRA	4	148407185	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		148407185	42747091	7	5549										
WDR17	116966	broad.mit.edu	37	chr4	177058761	177058761	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	aattatacaacgatttaatgAggtaagatttatttattgct	6	3	0	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.chr4:177058761A>G	ENST00000280190.4	+	10	1586	c.1430A>G	c.(1429-1431)gAg>gGg	p.E477G	WDR17_ENST00000507824.2_Splice_Site_p.E460G|WDR17_ENST00000393643.2_Splice_Site_p.E453G|WDR17_ENST00000508596.1_Splice_Site_p.E453G			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.(1357-1359)gAg>gGg		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			Somatic				WDR17_ENST00000280190.4_Splice_Site_p.E477G|WDR17_ENST00000508596.1_Splice_Site_p.E453G|WDR17_ENST00000507824.2_Splice_Site_p.E460G	p.E453G	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	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.1358A>G	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	5	52	---	---	---	---	G	177058761	A	G	177058761	5	3	125	1	0	0	0	0	0	0	1	0	17274	318	11	2	1464	2	WDR17	4	177058761	Splice_Site	SNP	A	TCGA-G9-6329-01A-13D-1961-08	28651576	177058761	14095515	8	5550										
TRIO	7204	broad.mit.edu	37	chr5	14504503	14504503	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cccctgacatattttacaggGgcagattctctgtcgttaag	9	10	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.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8413G>A	c.(8413-8415)Ggc>Agc	p.G2805S	TRIO_ENST00000344135.5_Splice_Site_p.G304S|TRIO_ENST00000537187.1_Splice_Site_p.G2629S	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.(8413-8415)Ggc>Agc		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			Somatic				TRIO_ENST00000344135.5_Splice_Site_p.G304S|TRIO_ENST00000537187.1_Splice_Site_p.G2629S	p.G2805S	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	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.8413G>A	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	6	85	---	---	---	---	A	14504503	G	A	14504503	5	1	125	1	0	0	0	0	0	0	1	0	16549	1246	43	2	8631	2	TRIO	5	14504503	Splice_Site	SNP	G	TCGA-G9-6329-01A-13D-1961-08		14504503	166410757	9	5551										
NMUR2	56923	broad.mit.edu	37	chr5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cgaacaagaaagggtagttgCgccacatctcatagacctcc	9	12	1	2	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		Somatic				NMUR2_ENST00000518933.1_Intron	p.R108H	NM_020167.4	NP_064552.3	WXS	Illumina GAIIx	Phase_I	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	19	149	---	---	---	---	T	151784352	C	T	151784352	3	4	125	1	0	0	0	0	1	0	0	0	10507	768	27	2	940	2	NMUR2	5	151784352	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	137279849	151784352	29130908	10	5552										
MDN1	23195	broad.mit.edu	37	chr6	90426386	90426386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tacttgcagaagttaacattGtccatcagaagccagtctcc	7	11	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.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			Somatic				MDN1_ENST00000428876.1_Silent_p.D2242D	p.D2242D			WXS	Illumina GAIIx	Phase_I	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	8	51	---	---	---	---	A	90426386	G	A	90426386	2	1	125	1	0	0	0	0	0	0	0	1	9415	1368	48	2		2	MDN1	6	90426386	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08		90426386	80688681	11	5553										
CCDC129	223075	broad.mit.edu	37	chr7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	ctgtgatgatttgctaccttAtcctcctcatggtcttctga	7	11	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.chr7:31617858A>G	ENST00000407970.3	+	8	1018	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C|CCDC129_ENST00000409210.1_Missense_Mutation_p.Y235C|CCDC129_ENST00000319386.3_Intron	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		Somatic				CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C	p.Y235C			WXS	Illumina GAIIx	Phase_I	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	9	75	---	---	---	---	G	31617858	A	G	31617858	3	3	125	1	0	0	0	0	1	0	0	0	2764	449	16	2	1006	2	CCDC129	7	31617858	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		31617858	127520805	12	5554										
KIAA1967	57805	broad.mit.edu	37	chr8	22472959	22472959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tggcgctttgccgagtttcaGtacctgcagccgggaccccc	12	15	1	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.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.Q84Q|CCAR2_ENST00000389279.3_Silent_p.Q409Q			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											c.(1225-1227)caG>caA		cell cycle and apoptosis regulator 2							71	82	79					8																	22472959		2203	4300	6503	SO:0001819	synonymous_variant	57805							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			Somatic				CCAR2_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.Q84Q	p.Q409Q			WXS	Illumina GAIIx	Phase_I					12	1476	+			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	30	132	---	---	---	---	A	22472959	G	A	22472959	2	1	125	1	0	0	0	0	0	0	0	1	8265	1020	36	2		2	KIAA1967	8	22472959	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08		22472959	123891063	13	5555										
CHD7	55636	broad.mit.edu	37	chr8	61736563	61736563	+	Missense_Mutation	SNP	G	G	T													0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	aagctgttggagggactcaaGatgatggacttggtcagtga					rs41272440		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.chr8:61736563G>T	ENST00000423902.2	+	13	3845	c.3366G>T	c.(3364-3366)aaG>aaT	p.K1122N	CHD7_ENST00000525508.1_Missense_Mutation_p.K1122N|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1122	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			AGGGACTCAAGATGATGGACT	0.468																																						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.(3364-3366)aaG>aaT		chromodomain helicase DNA binding protein 7							121	122	121					8																	61736563		2086	4235	6321	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.chr8:61736563G>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.3366G>T	8.37:g.61736563G>T	ENSP00000392028:p.Lys1122Asn		Somatic				CHD7_ENST00000525508.1_Missense_Mutation_p.K1122N|CHD7_ENST00000524602.1_Intron	p.K1122N	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		13	3845	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1122			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3366G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887953	0.91814	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93133	-3.17;-3.17	5.56	5.56	0.83823	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	N	0.26092	0.79	0.80722	D	1	D;P	0.69078	0.997;0.767	D;P	0.78314	0.991;0.667	D	0.95225	0.8337	10	0.87932	D	0	-28.0638	19.9019	0.96988	0.0:0.0:1.0:0.0	.	1122;1122	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	N	1122	ENSP00000392028:K1122N;ENSP00000436027:K1122N	ENSP00000307304:K1122N	K	+	3	2	CHD7	61899117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	2.781000	0.95711	0.650000	0.86243	AAG		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	129	6	129	---	---	---	---	T	61736563	G	T	61736563	3	4	125	1	0	0	0	0	1	0	0	0	3330	933	33	3	3412	3	CHD7	8	61736563	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	39263604	61736563	84627459	14	5556	11	2								
CHD7	55636	broad.mit.edu	37	chr8	61736570	61736570	+	Missense_Mutation	SNP	G	G	T													0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tggagggactcaagatgatgGacttggtcagtgaccatatt							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.chr8:61736570G>T	ENST00000423902.2	+	13	3852	c.3373G>T	c.(3373-3375)Gac>Tac	p.D1125Y	CHD7_ENST00000525508.1_Missense_Mutation_p.D1125Y|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1125	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			CAAGATGATGGACTTGGTCAG	0.463																																						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.(3373-3375)Gac>Tac		chromodomain helicase DNA binding protein 7							115	116	116					8																	61736570		2079	4231	6310	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.chr8:61736570G>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.3373G>T	8.37:g.61736570G>T	ENSP00000392028:p.Asp1125Tyr		Somatic				CHD7_ENST00000525508.1_Missense_Mutation_p.D1125Y|CHD7_ENST00000524602.1_Intron	p.D1125Y	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		13	3852	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1125			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3373G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570115	0.86542	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93488	-3.23;-3.23	5.56	5.56	0.83823	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	L	0.31157	0.91	0.80722	D	1	P;D	0.65815	0.952;0.995	P;D	0.64506	0.821;0.926	D	0.94886	0.8043	10	0.72032	D	0.01	-26.9762	19.9019	0.96988	0.0:0.0:1.0:0.0	.	1125;1125	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Y	1125	ENSP00000392028:D1125Y;ENSP00000436027:D1125Y	ENSP00000307304:D1125Y	D	+	1	0	CHD7	61899124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.781000	0.95711	0.650000	0.86243	GAC		0.463	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	120	6	120	---	---	---	---	T	61736570	G	T	61736570	3	4	125	1	0	0	0	0	1	0	0	0	3330	1174	41	3	3419	3	CHD7	8	61736570	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	7	61736570	84627452	15	5557	11	2								
PKD2L1	9033	broad.mit.edu	37	chr10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	accactctcctgcccaccctGgactccccaggggtctgggg	11	18	2	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*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|BLOC1S2_ENST00000441611.1_5'Flank|BLOC1S2_ENST00000370372.2_5'Flank|PKD2L1_ENST00000353274.3_Intron|BLOC1S2_ENST00000361832.2_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*		Somatic				PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*	p.Q773*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina GAIIx	Phase_I	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	15	90	---	---	---	---	A	102048747	G	A	102048747	4	1	125	1	0	0	0	0	0	1	0	0	11967	1357	47	2	108	2	PKD2L1	10	102048747	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		102048747	33486000	16	5558										
ERN2	10595	broad.mit.edu	37	chr16	23716455	23716455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	aggcccatcccgcaggacgcCaggtggctcatgtctgccga	13	15	2	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			Somatic				ERN2_ENST00000457008.2_Silent_p.L201L	p.L249L	NM_033266.3	NP_150296.3	WXS	Illumina GAIIx	Phase_I	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	5	50	---	---	---	---	T	23716455	C	T	23716455	2	4	125	1	0	0	0	0	0	0	0	1	5238	581	21	2		2	ERN2	16	23716455	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		23716455	66638298	17	5559										
WIPI1	55062	broad.mit.edu	37	chr17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cctccatcctgaggatccaaAttgtacatataaaggtgtcc	7	11	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.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|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		Somatic				WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K	p.N342K	NM_017983.5	NP_060453.3	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	C	66425017	A	C	66425017	3	2	125	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	18	5560										
CBX4	8535	broad.mit.edu	37	chr17	77809099	77809099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tcgtactgatgcccctggccCttcccctgcgcgcccaaatc	8	19	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	16	127	---	---	---	---	T	77809099	C	T	77809099	2	4	125	1	0	0	0	0	0	0	0	1	2720	680	24	2		2	CBX4	17	77809099	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08	11384082	77809099	3386111	19	5561										
ABHD8	79575	broad.mit.edu	37	chr19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	gcgcttgaagattgctcgcaTgtcctcagccagcgcataga	11	12	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.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	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	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		Somatic				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.M234V	NM_024527.4	NP_078803.4	WXS	Illumina GAIIx	Phase_I	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	13	143	---	---	---	---	C	17411726	T	C	17411726	3	2	125	1	0	0	0	0	1	0	0	0	87	1464	51	2	635	2	ABHD8	19	17411726	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08		17411726	41717257	20	5562										
SSBP4	170463	broad.mit.edu	37	chr19	18538569	18538569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	cctttccctgcagatccgatGggagaagaacatcacgctgg	11	12	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.chr19:18538569G>T	ENST00000270061.7	+	3	434	c.140G>T	c.(139-141)tGg>tTg	p.W47L	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.W47L	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	47	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						CAGATCCGATGGGAGAAGAAC	0.662																																						ENST00000270061.7																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(139-141)tGg>tTg		single stranded DNA binding protein 4							58	53	55					19																	18538569		2203	4300	6503	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18538569G>T		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.140G>T	19.37:g.18538569G>T	ENSP00000270061:p.Trp47Leu		Somatic				SSBP4_ENST00000348495.6_Missense_Mutation_p.W47L|SSBP4_ENST00000598159.2_3'UTR	p.W47L	NM_032627.4	NP_116016.1	WXS	Illumina GAIIx	Phase_I	Q9BWG4	SSBP4_HUMAN			3	434	+						LisH.		Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.140G>T	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494975	0.85069	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.8	3.8	0.43715	LisH dimerisation motif (2);	0.000000	0.64402	U	0.000012	T	0.72906	0.3519	M	0.71581	2.175	0.80722	D	1	D;P	0.57899	0.981;0.948	P;P	0.58721	0.844;0.722	T	0.76688	-0.2867	9	0.59425	D	0.04	-10.9178	13.2127	0.59834	0.0:0.0:1.0:0.0	.	47;47	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	L	47	.	ENSP00000270061:W47L	W	+	2	0	SSBP4	18399569	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.907000	0.75724	1.941000	0.56285	0.561000	0.74099	TGG		0.662	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		4	57	4	57	---	---	---	---	T	18538569	G	T	18538569	3	4	125	1	0	0	0	0	1	0	0	0	15181	1357	47	1	150	1	SSBP4	19	18538569	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	1126843	18538569	40590414	21	5563										
ZNF675	171392	broad.mit.edu	37	chr19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	aagttctgtcacattcttgaCatttgtagagtttctcacaa	6	8	4	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.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_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		Somatic				ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	p.C230Y	NM_138330.2	NP_612203.2	WXS	Illumina GAIIx	Phase_I	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	12	37	---	---	---	---	T	23837046	C	T	23837046	3	4	125	1	0	0	0	0	1	0	0	0	18079	478	17	2	1021	2	ZNF675	19	23837046	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	5298477	23837046	35291937	22	5564										
RTEL1	51750	broad.mit.edu	37	chr20	62320908	62320908	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	ggccgtggtgtgattgtcacGggcctcccgtaccccccacg	13	16	1	1	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_ENST00000318100.4_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1_ENST00000370018.3_Silent_p.T644T|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			Somatic				RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T	p.T644T	NM_001283009.1	NP_001269938.1	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	T	62320908	G	T	62320908	2	4	125	1	0	0	0	0	0	0	0	1	13720	1103	39	1		1	RTEL1	20	62320908	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08		62320908	704612	23	5565										
NUP50	10762	broad.mit.edu	37	chr22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.565941101152369	6.22535211267606	0	1	1	0	tgcctcatttaatttcggcaAgaaagttgatagctctgttt	8	7	2	2	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_ENST00000396096.2_Missense_Mutation_p.K247R|NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_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					ENST00000347635.4																			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		Somatic				NUP50_ENST00000396096.2_Missense_Mutation_p.K247R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000425733.2_Missense_Mutation_p.K25R	p.K275R	NM_007172.3	NP_009103.2	WXS	Illumina GAIIx	Phase_I	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1290	+		Ovarian(80;0.00965)|all_neural(38;0.0244)				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	3	20	---	---	---	---	G	45574602	A	G	45574602	3	3	125	1	0	0	0	0	1	0	0	0	10766	72	3	2	838	2	NUP50	22	45574602	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		45574602	5729964	24	5566										
JUN	3725	broad.mit.edu	37	chr1	59248569	59248569	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tcgggcgaggtgaggaggtcCgagttcttggcgcggaggtg	21	7	1	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.chr1:59248569C>A	ENST00000371222.2	-	1	1216	c.174G>T	c.(172-174)tcG>tcT	p.S58S	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	58					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)	TGAGGAGGTCCGAGTTCTTGG	0.632			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(172-174)tcG>tcT		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						86	99	94					1																	59248569		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.chr1:59248569C>A	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.174G>T	1.37:g.59248569C>A			Somatic					p.S58S	NM_002228.3	NP_002219.1	WXS	Illumina GAIIx	Phase_I	P05412	JUN_HUMAN			1	1216	-	all_cancers(7;8.55e-07)		58					Q6FHM7|Q96G93	Silent	SNP	ENST00000371222.2	37	c.174G>T	CCDS610.1																																																																																				0.632	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		12	183	12	183	---	---	---	---	A	59248569	C	A	59248569	2	1	126	1	0	0	0	0	0	0	0	1	7969	639	23	1		1	JUN	1	59248569	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		59248569	190002052	1	5567										
USP33	23032	broad.mit.edu	37	chr1	78195548	78195548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aaaagcaataaactaacctgCtgagaatacccccgaaatgt	6	10	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.chr1:78195548C>A	ENST00000370793.1	-	10	1153	c.807G>T	c.(805-807)caG>caT	p.Q269H	USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	269	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						AACTAACCTGCTGAGAATACC	0.333																																					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.(805-807)caG>caT		ubiquitin specific peptidase 33							79	85	83					1																	78195548		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.chr1:78195548C>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.807G>T	1.37:g.78195548C>A	ENSP00000359829:p.Gln269His		Somatic				USP33_ENST00000370792.3_Missense_Mutation_p.Q269H|USP33_ENST00000370794.3_Missense_Mutation_p.Q238H|USP33_ENST00000357428.1_Missense_Mutation_p.Q269H	p.Q269H	NM_015017.4	NP_055832.3	WXS	Illumina GAIIx	Phase_I	Q8TEY7	UBP33_HUMAN			10	1153	-			269					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.807G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484835	0.63962	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.32	3.41	0.39046	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.74258	2.255	0.58432	D	0.999997	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.97110	0.985;0.97;1.0	T	0.65504	-0.6152	10	0.72032	D	0.01	.	9.1748	0.37105	0.0:0.7396:0.0:0.2604	.	269;238;269	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	H	238;269;269;269	ENSP00000359830:Q238H;ENSP00000359829:Q269H;ENSP00000350009:Q269H;ENSP00000359828:Q269H	ENSP00000350009:Q269H	Q	-	3	2	USP33	77968136	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.481000	0.22260	1.384000	0.46424	0.650000	0.86243	CAG		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		4	90	4	90	---	---	---	---	A	78195548	C	A	78195548	3	1	126	1	0	0	0	0	1	0	0	0	17061	796	28	3	2097	3	USP33	1	78195548	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	18946979	78195548	171055073	2	5568										
KIRREL	55243	broad.mit.edu	37	chr1	158064794	158064794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	cctctggcctggagcggaccCcatatgaggcgtatgacccc	12	15	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.chr1:158064794C>A	ENST00000359209.6	+	15	2225	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T	KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T|KIRREL_ENST00000368172.1_Missense_Mutation_p.P534T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	720					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)					GGAGCGGACCCCATATGAGGC	0.622																																						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.(1600-1602)Cca>Aca		kin of IRRE like (Drosophila)							42	40	40					1																	158064794		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064794C>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.2158C>A	1.37:g.158064794C>A	ENSP00000352138:p.Pro720Thr		Somatic				KIRREL_ENST00000368173.3_Missense_Mutation_p.P736T|KIRREL_ENST00000392272.2_Missense_Mutation_p.P617T|KIRREL_ENST00000359209.6_Missense_Mutation_p.P720T|KIRREL_ENST00000360089.4_Missense_Mutation_p.P556T|KIRREL_ENST00000416935.2_Missense_Mutation_p.P620T	p.P534T			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			11	1612	+	all_hematologic(112;0.0378)		720					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1600C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517681	0.64634	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70631	0.47;-0.5;0.11;-0.14;-0.05;0.31	5.0	4.08	0.47627	.	0.000000	0.42964	D	0.000637	T	0.67915	0.2944	L	0.29908	0.895	0.38341	D	0.944085	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	T	0.74100	-0.3774	10	0.66056	D	0.02	-14.51	13.2225	0.59896	0.0:0.839:0.161:0.0	.	620;556;534;720	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	T	556;736;617;720;620;534	ENSP00000353202:P556T;ENSP00000357155:P736T;ENSP00000376098:P617T;ENSP00000352138:P720T;ENSP00000389674:P620T;ENSP00000357154:P534T	ENSP00000352138:P720T	P	+	1	0	KIRREL	156331418	0.989000	0.36119	0.992000	0.48379	0.937000	0.57800	1.464000	0.35288	1.086000	0.41228	0.561000	0.74099	CCA		0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		4	41	4	41	---	---	---	---	A	158064794	C	A	158064794	3	1	126	1	0	0	0	0	1	0	0	0	8324	623	22	1	2216	1	KIRREL	1	158064794	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	79869246	158064794	91185827	3	5569										
KLHL20	27252	broad.mit.edu	37	chr1	173744960	173744960	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	cagtggtctccagtggtggcCatgacatcacgccgtagtgg	14	11	2	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.chr1:173744960C>A	ENST00000209884.4	+	10	1753	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	KLHL20_ENST00000546011.1_Silent_p.A350A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	539					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						CAGTGGTGGCCATGACATCAC	0.473																																					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.(1615-1617)gcC>gcA		kelch-like family member 20							102	103	103					1																	173744960		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:173744960C>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.1617C>A	1.37:g.173744960C>A			Somatic				KLHL20_ENST00000546011.1_Silent_p.A350A	p.A539A	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			10	1753	+			539					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1617C>A	CCDS1310.1																																																																																				0.473	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		4	87	4	87	---	---	---	---	A	173744960	C	A	173744960	2	1	126	1	0	0	0	0	0	0	0	1	8375	581	21	1		1	KLHL20	1	173744960	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	15680166	173744960	75505661	4	5570										
KIF21B	23046	broad.mit.edu	37	chr1	200972744	200972744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tccatcagctccatctgcagCcgagcaatctcagcccgcag	8	17	3	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			Somatic				KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R	p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	WXS	Illumina GAIIx	Phase_I	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	18	69	---	---	---	---	T	200972744	C	T	200972744	2	4	126	1	0	0	0	0	0	0	0	1	8289	726	26	2		2	KIF21B	1	200972744	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	27227784	200972744	48277877	5	5571										
C1orf95	375057	broad.mit.edu	37	chr1	226784502	226784502	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gtcccctctggcctctcacaGggacattcgtctcggccttc	9	17	3	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.chr1:226784502G>T	ENST00000366788.3	+	2	307		c.e2-1		C1orf95_ENST00000366789.4_Splice_Site	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95							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)		GCCTCTCACAGGGACATTCGT	0.632																																						ENST00000366788.3																			0				large_intestine(1)|lung(4)|ovary(3)	8						c.e2-1		chromosome 1 open reading frame 95							72	70	71					1																	226784502		2203	4300	6503	SO:0001630	splice_region_variant	375057					integral to membrane		g.chr1:226784502G>T	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.203-1G>T	1.37:g.226784502G>T			Somatic				C1orf95_ENST00000366789.4_Splice_Site		NM_001003665.3	NP_001003665.1	WXS	Illumina GAIIx	Phase_I	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	307	+	Breast(184;0.133)	Prostate(94;0.0885)						A6NGL2	Splice_Site	SNP	ENST00000366788.3	37		CCDS31044.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934716	0.92458	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3828	0.94543	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf95	224851125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.509000	0.98002	2.669000	0.90835	0.561000	0.74099	.		0.632	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665	Intron	6	129	6	129	---	---	---	---	T	226784502	G	T	226784502	5	4	126	1	0	0	0	0	0	0	1	0	2072	1014	35	1	208	1	C1orf95	1	226784502	Splice_Site	SNP	G	TCGA-G9-6333-01A-12D-1961-08	25811758	226784502	22466119	6	5572										
OBSCN	84033	broad.mit.edu	37	chr1	228433202	228433202	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gccatgctgagctgtgaggtGgcccagccccagacagaggt	15	12	0	4	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_ENST00000570156.2_Silent_p.V1282V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	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			Somatic				OBSCN_ENST00000284548.11_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR	p.V1282V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	11	71	---	---	---	---	C	228433202	G	C	228433202	2	2	126	1	0	0	0	0	0	0	0	1	10812	1335	47	4		4	OBSCN	1	228433202	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	1648700	228433202	20817419	7	5573										
RYR2	6262	broad.mit.edu	37	chr1	237711848	237711848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aatgcacataatgtgtgggcGcgggatcgaatccggcaggg	16	8	0	0	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_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	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			Somatic				RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	p.A1008A	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	12	41	---	---	---	---	A	237711848	G	A	237711848	2	1	126	1	0	0	0	0	0	0	0	1	13769	1074	38	2		2	RYR2	1	237711848	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	9278646	237711848	11538773	8	5574										
APOB	338	broad.mit.edu	37	chr2	21231069	21231069	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tttggggatgttcaatttgtGgaagtatttagtgttgctat	12	2	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.chr2:21231069G>T	ENST00000233242.1	-	26	8798	c.8671C>A	c.(8671-8673)Cac>Aac	p.H2891N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2891					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)					TTCAATTTGTGGAAGTATTTA	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.(8671-8673)Cac>Aac		apolipoprotein B	Atorvastatin(DB01076)						179	177	178					2																	21231069		2203	4299	6502	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.chr2:21231069G>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.8671C>A	2.37:g.21231069G>T	ENSP00000233242:p.His2891Asn		Somatic					p.H2891N	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	8798	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2891					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8671C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149950	0.57151	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01025	5.43	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000072	T	0.06050	0.0157	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.07654	-1.0761	10	0.66056	D	0.02	.	19.0235	0.92923	0.0:0.0:1.0:0.0	.	2891	P04114	APOB_HUMAN	N	2891	ENSP00000233242:H2891N	ENSP00000233242:H2891N	H	-	1	0	APOB	21084574	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	9.661000	0.98601	2.590000	0.87494	0.555000	0.69702	CAC		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	209	5	209	---	---	---	---	T	21231069	G	T	21231069	3	4	126	1	0	0	0	0	1	0	0	0	785	1348	47	1	5036	1	APOB	2	21231069	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		21231069	221968304	9	5575										
VPS54	51542	broad.mit.edu	37	chr2	64208816	64208816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tgatatactgtaaaatgttcCttgctgatctgtgggaggta	11	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.chr2:64208816C>A	ENST00000272322.4	-	3	496	c.342G>T	c.(340-342)aaG>aaT	p.K114N	VPS54_ENST00000409558.4_Missense_Mutation_p.K102N			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	114					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						TAAAATGTTCCTTGCTGATCT	0.358																																						ENST00000409558.4																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(304-306)aaG>aaT		vacuolar protein sorting 54 homolog (S. cerevisiae)							161	152	155					2																	64208816		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64208816C>A	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.342G>T	2.37:g.64208816C>A	ENSP00000272322:p.Lys114Asn		Somatic				VPS54_ENST00000272322.4_Missense_Mutation_p.K114N	p.K102N	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	WXS	Illumina GAIIx	Phase_I	Q9P1Q0	VPS54_HUMAN			3	460	-								Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.306G>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173319	0.38413	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T	0.31510	1.49;1.49	6.16	3.02	0.34903	.	0.041280	0.85682	D	0.000000	T	0.21267	0.0512	L	0.36672	1.1	0.50313	D	0.999863	P;P	0.41265	0.627;0.744	B;B	0.35813	0.105;0.211	T	0.03025	-1.1081	10	0.24483	T	0.36	.	12.4489	0.55667	0.0:0.7912:0.0:0.2088	.	114;102	Q9P1Q0;Q9P1Q0-4	VPS54_HUMAN;.	N	114;102;102;114	ENSP00000272322:K114N;ENSP00000386980:K102N	ENSP00000272322:K114N	K	-	3	2	VPS54	64062320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	0.947000	0.37659	0.650000	0.86243	AAG		0.358	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		5	92	5	92	---	---	---	---	A	64208816	C	A	64208816	3	1	126	1	0	0	0	0	1	0	0	0	17213	680	24	1	2675	1	VPS54	2	64208816	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	42977747	64208816	178990557	10	5576										
GPR155	151556	broad.mit.edu	37	chr2	175301023	175301023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aatatgttggatgactccccCttgtaccagcctgtctccgt	8	13	1	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.chr2:175301023C>A	ENST00000392552.2	-	16	2672	c.2434G>T	c.(2434-2436)Ggg>Tgg	p.G812W	GPR155_ENST00000392551.2_Missense_Mutation_p.G812W|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Missense_Mutation_p.G812W	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	812	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGACTCCCCCTTGTACCAGC	0.483																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(2434-2436)Ggg>Tgg		G protein-coupled receptor 155							159	155	156					2																	175301023		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301023C>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2434G>T	2.37:g.175301023C>A	ENSP00000376335:p.Gly812Trp		Somatic				GPR155_ENST00000295500.4_Missense_Mutation_p.G812W|GPR155_ENST00000392551.2_Missense_Mutation_p.G812W	p.G812W	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			16	2672	-			812			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2434G>T	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000166	0.93227	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.21932	1.98;1.98;1.98	6.17	6.17	0.99709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54761	-0.8245	10	0.87932	D	0	-10.3303	20.8794	0.99867	0.0:1.0:0.0:0.0	.	812	Q7Z3F1	GP155_HUMAN	W	812	ENSP00000376335:G812W;ENSP00000376334:G812W;ENSP00000295500:G812W	ENSP00000295500:G812W	G	-	1	0	GPR155	175009269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.058000	0.76676	2.941000	0.99782	0.655000	0.94253	GGG		0.483	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	190	5	190	---	---	---	---	A	175301023	C	A	175301023	3	1	126	1	0	0	0	0	1	0	0	0	6660	681	24	1	182	1	GPR155	2	175301023	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	111092207	175301023	67898350	11	5577										
INPP5D	3635	broad.mit.edu	37	chr2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gtccatctcccgggcatacgCgctctgcgtgctgtgagtac	12	14	2	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.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		Somatic				INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V	p.A41V			WXS	Illumina GAIIx	Phase_I	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	12	51	---	---	---	---	T	233925310	C	T	233925310	3	4	126	1	0	0	0	0	1	0	0	0	7756	768	27	2	124	2	INPP5D	2	233925310	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	58624287	233925310	9274063	12	5578										
MME	4311	broad.mit.edu	37	chr3	154861330	154861330	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gtggggaggctttatgtggaAgcagcatttgctggagagag	18	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.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000492661.1_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			Somatic				MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E	p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	WXS	Illumina GAIIx	Phase_I	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	20	91	---	---	---	---	G	154861330	A	G	154861330	2	3	126	1	0	0	0	0	0	0	0	1	9645	69	3	2		2	MME	3	154861330	Silent	SNP	A	TCGA-G9-6333-01A-12D-1961-08		154861330	43161100	13	5579										
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784775	68784775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ggcttctggcaaacaaatctGgcgtatgtcatccgaaaagg	11	9	3	0	rs539520672		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.chr4:68784775G>T	ENST00000334830.7	-	8	1623	c.877C>A	c.(877-879)Cag>Aag	p.Q293K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.Q289K|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	293	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> Q (common polymorphism; may be a susceptibility factor for developing esophageal cancer especially in smoking population; dbSNP:rs353163). {ECO:0000269|PubMed:16267096, ECO:0000269|Ref.2}.		cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						AAACAAATCTGGCGTATGTCA	0.458																																					NSCLC(26;2 894 10941 14480 22546)	ENST00000508048.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(865-867)Cag>Aag		transmembrane protease, serine 11A							151	155	153					4																	68784775		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784775G>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.877C>A	4.37:g.68784775G>T	ENSP00000334611:p.Gln293Lys		Somatic				TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.Q293K|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.Q290K	p.Q289K			WXS	Illumina GAIIx	Phase_I	Q6ZMR5	TM11A_HUMAN			8	900	-			293			Peptidase S1.		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.865C>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483356	0.12581	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.36	0.454	0.16644	.	0.000000	0.49916	D	0.000130	T	0.78929	0.4361	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.65817	-0.6076	10	0.35671	T	0.21	.	5.8641	0.18765	0.1473:0.0:0.3457:0.5071	.	290	B5MDI9	.	K	289;293;290;257	ENSP00000426911:Q289K;ENSP00000334611:Q293K;ENSP00000379491:Q290K;ENSP00000427621:Q257K	ENSP00000334611:Q293K	Q	-	1	0	TMPRSS11A	68467370	0.070000	0.21116	0.000000	0.03702	0.137000	0.21094	0.952000	0.29149	-0.267000	0.09325	-0.230000	0.12252	CAG		0.458	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		4	122	4	122	---	---	---	---	T	68784775	G	T	68784775	3	4	126	1	0	0	0	0	1	0	0	0	16236	1357	47	1	400	1	TMPRSS11A	4	68784775	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		68784775	122369501	14	5580										
FAM190A	401145	broad.mit.edu	37	chr4	91229733	91229733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ctcaacctggtcacagcaatAtgcagaaactgagtttggaa	9	9	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.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		Somatic				CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L	p.M100L	NM_001145065.1	NP_001138537.1	WXS	Illumina GAIIx	Phase_I					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	5	85	---	---	---	---	C	91229733	A	C	91229733	3	2	126	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	22444958	91229733	99924543	15	5581										
ADCY2	108	broad.mit.edu	37	chr5	7626342	7626342	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ggagcctaccataagcacctCatggaactcgctcttcagca	8	14	3	0	rs373621272		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.chr5:7626342C>A	ENST00000338316.4	+	4	722	c.633C>A	c.(631-633)ctC>ctA	p.L211L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	211					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						ATAAGCACCTCATGGAACTCG	0.448																																						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.(631-633)ctC>ctA		adenylate cyclase 2 (brain)							159	154	156					5																	7626342		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.chr5:7626342C>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.633C>A	5.37:g.7626342C>A			Somatic					p.L211L	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			4	722	+			211					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.633C>A	CCDS3872.2																																																																																				0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	158	5	158	---	---	---	---	A	7626342	C	A	7626342	2	1	126	1	0	0	0	0	0	0	0	1	294	813	29	3		3	ADCY2	5	7626342	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		7626342	173288918	16	5582										
TRIO	7204	broad.mit.edu	37	chr5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agattatctcagacctcgagTcttggaatgatgagctttct	9	8	3	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.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		Somatic				TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A	p.S804A	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	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	6	85	---	---	---	---	G	14363859	T	G	14363859	3	3	126	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	6737517	14363859	166551401	17	5583										
MAST4	375449	broad.mit.edu	37	chr5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	atccacaggtactaattcctCccagagcagctcccctagtt	6	15	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.chr5:66458987C>T	ENST00000403625.2	+	29	4275	c.3980C>T	c.(3979-3981)tCc>tTc	p.S1327F	MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000404260.3_Missense_Mutation_p.S1330F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F	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		Somatic				MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F	p.S1330F			WXS	Illumina GAIIx	Phase_I	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	12	222	---	---	---	---	T	66458987	C	T	66458987	3	4	126	1	0	0	0	0	1	0	0	0	9327	855	30	2	4224	2	MAST4	5	66458987	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	52095128	66458987	114456273	18	5584										
PCDHA4	56144	broad.mit.edu	37	chr5	140187047	140187047	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tgtgaattctcggatcgaccGggaggagctgtgccggcgga	17	9	1	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.chr5:140187047G>T	ENST00000530339.1	+	1	275	c.275G>T	c.(274-276)cGg>cTg	p.R92L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	92	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)			CGGATCGACCGGGAGGAGCTG	0.622																																						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.(274-276)cGg>cTg									71	82	78					5																	140187047		2201	4284	6485	SO:0001583	missense	56144							g.chr5:140187047G>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.275G>T	5.37:g.140187047G>T	ENSP00000435300:p.Arg92Leu		Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R92L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R92L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R92L	NM_018907.2	NP_061730.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.275G>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.196512	0.79015	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53423	0.62;0.62;0.62	4.45	4.45	0.53987	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37809	U	0.001928	D	0.82783	0.5112	H	0.99600	4.65	0.40513	D	0.980752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.999	D	0.91621	0.5311	10	0.87932	D	0	.	17.5079	0.87752	0.0:0.0:1.0:0.0	.	92;92;92	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	92	ENSP00000423470:R92L;ENSP00000349344:R92L;ENSP00000435300:R92L	ENSP00000349344:R92L	R	+	2	0	PCDHA4	140167231	0.992000	0.36948	0.997000	0.53966	0.677000	0.39632	6.511000	0.73733	2.215000	0.71742	0.461000	0.40582	CGG		0.622	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		6	262	6	262	---	---	---	---	T	140187047	G	T	140187047	3	4	126	1	0	0	0	0	1	0	0	0	11526	1116	39	1	277	1	PCDHA4	5	140187047	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	73728060	140187047	40728213	19	5585										
HAVCR2	84868	broad.mit.edu	37	chr5	156533896	156533896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gcagacgggcacgaggttccCtggggcggctggggtgtaga	20	9	0	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.chr5:156533896C>A	ENST00000307851.4	-	2	866	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	46	Ig-like V-type.					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)			ACGAGGTTCCCTGGGGCGGCT	0.562																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(136-138)Ggg>Tgg		hepatitis A virus cellular receptor 2							100	101	100					5																	156533896		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533896C>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.136G>T	5.37:g.156533896C>A	ENSP00000312002:p.Gly46Trp		Somatic				HAVCR2_ENST00000522593.1_Missense_Mutation_p.G46W|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	p.G46W	NM_032782.4	NP_116171.3	WXS	Illumina GAIIx	Phase_I	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	866	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	46			Ig-like V-type.		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.136G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903772	0.52333	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.02656	4.21;4.21	5.06	2.2	0.27929	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.172640	0.05985	N	0.645015	T	0.11495	0.0280	M	0.77313	2.365	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.61533	0.89;0.811	T	0.17289	-1.0374	10	0.87932	D	0	-4.3675	3.1973	0.06637	0.1917:0.5299:0.0:0.2784	.	46;46	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	W	46	ENSP00000312002:G46W;ENSP00000430873:G46W	ENSP00000312002:G46W	G	-	1	0	HAVCR2	156466474	0.020000	0.18652	0.000000	0.03702	0.011000	0.07611	0.819000	0.27308	0.600000	0.29862	0.655000	0.94253	GGG		0.562	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	210	5	210	---	---	---	---	A	156533896	C	A	156533896	3	1	126	1	0	0	0	0	1	0	0	0	6974	681	24	1	793	1	HAVCR2	5	156533896	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	16346849	156533896	24381364	20	5586										
PHACTR1	221692	broad.mit.edu	37	chr6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	caccaaagcaggacctatggGccttccagaaataagacaag	9	11	0	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.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		Somatic				PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron	p.G358D			WXS	Illumina GAIIx	Phase_I	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	18	160	---	---	---	---	A	13228134	G	A	13228134	3	1	126	1	0	0	0	0	1	0	0	0	11809	1203	42	2	1099	2	PHACTR1	6	13228134	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		13228134	157886933	21	5587										
RPP21	79897	broad.mit.edu	37	chr6	30314525	30314525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aacccttgccaaacacagccCactccatttcagaccgcctt	4	18	1	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.chr6:30314525C>A	ENST00000442966.2	+	5	416	c.403C>A	c.(403-405)Cac>Aac	p.H135N	RPP21_ENST00000428040.2_Missense_Mutation_p.H158N|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.H396N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	135					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						AAACACAGCCCACTCCATTTC	0.438																																						ENST00000513556.1																			0											c.(1186-1188)Cac>Aac									215	220	218					6																	30314525		1511	2709	4220	SO:0001583	missense	202658					intracellular	zinc ion binding	g.chr6:30314525C>A	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.403C>A	6.37:g.30314525C>A	ENSP00000403833:p.His135Asn		Somatic				RPP21_ENST00000442966.2_Missense_Mutation_p.H135N|RPP21_ENST00000433076.2_Missense_Mutation_p.H143N|RPP21_ENST00000436442.2_Missense_Mutation_p.P137Q|RPP21_ENST00000428040.2_Missense_Mutation_p.H158N	p.H396N	NM_001199119.1	NP_001186048.1	WXS	Illumina GAIIx	Phase_I	A6ZJ12	A6ZJ12_HUMAN			10	1186	+			396					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	c.1186C>A	CCDS4679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.14|10.14	1.267688|1.267688	0.23136|0.23136	.|.	.|.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370|ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040|ENST00000436442	T;T;T;T|T	0.39787|0.51325	1.06;1.6;1.59;1.59|0.71	4.14|4.14	3.27|3.27	0.37495|0.37495	.|.	0.908127|.	0.09180|.	N|.	0.837632|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|P	0.15719|0.36837	0.014;0.0;0.0|0.571	B;B;B|B	0.20955|0.32533	0.032;0.0;0.001|0.147	T|T	0.05386|0.05386	-1.0888|-1.0888	10|9	0.87932|0.30854	D|T	0|0.27	-11.6937|-11.6937	7.5167|7.5167	0.27604|0.27604	0.0:0.8828:0.0:0.1172|0.0:0.8828:0.0:0.1172	.|.	398;135;158|137	F5H2V3;Q9H633;Q9H633-2|Q9H633-3	.;RPP21_HUMAN;.|.	N|Q	398;396;143;135;158|137	ENSP00000424048:H396N;ENSP00000409799:H143N;ENSP00000403833:H135N;ENSP00000394320:H158N|ENSP00000397778:P137Q	ENSP00000394320:H158N|ENSP00000397778:P137Q	H|P	+|+	1|2	0|0	RPP21;TRIM39-RPP21;TRIM39|RPP21	30422504|30422504	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.008000|0.008000	0.06430|0.06430	0.869000|0.869000	0.27996|0.27996	1.083000|1.083000	0.41159|0.41159	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.438	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		5	204	5	204	---	---	---	---	A	30314525	C	A	30314525	3	1	126	1	0	0	0	0	1	0	0	0	13610	594	21	1	421	1	RPP21	6	30314525	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	17086391	30314525	140800542	22	5588										
LMTK2	22853	broad.mit.edu	37	chr7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ccatcatcctcagcaacgagGacggaaggcacctgcggagt	12	13	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		Somatic					p.D1326Y	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	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	29	89	---	---	---	---	T	97823753	G	T	97823753	3	4	126	1	0	0	0	0	1	0	0	0	8859	1174	41	3	4018	3	LMTK2	7	97823753	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		97823753	61314910	23	5589										
SLC13A4	26266	broad.mit.edu	37	chr7	135366383	135366383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aggtggaagaggctaactccCcaggtgttgatggccaccat	13	10	0	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.chr7:135366383C>A	ENST00000354042.4	-	16	2498	c.1809G>T	c.(1807-1809)tgG>tgT	p.W603C	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	603					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						GGCTAACTCCCCAGGTGTTGA	0.537																																						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.(1807-1809)tgG>tgT		solute carrier family 13 (sodium/sulfate symporter), member 4							188	133	151					7																	135366383		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135366383C>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.1809G>T	7.37:g.135366383C>A	ENSP00000297282:p.Trp603Cys		Somatic				SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	p.W603C	NM_012450.2	NP_036582.2	WXS	Illumina GAIIx	Phase_I	Q9UKG4	S13A4_HUMAN			16	2498	-			603					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1809G>T	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513469	0.85389	.	.	ENSG00000164707	ENST00000354042	T	0.05649	3.41	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.28267	-1.0049	10	0.87932	D	0	.	16.395	0.83601	0.0:1.0:0.0:0.0	.	472;603	Q59HF0;Q9UKG4	.;S13A4_HUMAN	C	603	ENSP00000297282:W603C	ENSP00000297282:W603C	W	-	3	0	SLC13A4	135016923	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.622000	0.83099	2.742000	0.94016	0.650000	0.86243	TGG		0.537	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		4	49	4	49	---	---	---	---	A	135366383	C	A	135366383	3	1	126	1	0	0	0	0	1	0	0	0	14394	624	22	1	75	1	SLC13A4	7	135366383	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	37542630	135366383	23772280	24	5590										
OR2A2	442361	broad.mit.edu	37	chr7	143806792	143806792	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ttctatacactcaccctgctGgggaatggggtcatctttgg	11	10	4	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.chr7:143806792G>T	ENST00000408979.2	+	1	186	c.117G>T	c.(115-117)ctG>ctT	p.L39L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, 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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCACCCTGCTGGGGAATGGGG	0.512																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(115-117)ctG>ctT		olfactory receptor, family 2, subfamily A, member 2							170	169	169					7																	143806792		2029	4212	6241	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806792G>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.117G>T	7.37:g.143806792G>T			Somatic					p.L39L	NM_001005480.2	NP_001005480.2	WXS	Illumina GAIIx	Phase_I	Q6IF42	OR2A2_HUMAN			1	186	+	Melanoma(164;0.0783)		39					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.117G>T	CCDS43671.1																																																																																				0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			5	182	5	182	---	---	---	---	T	143806792	G	T	143806792	2	4	126	1	0	0	0	0	0	0	0	1	10977	1335	47	1		1	OR2A2	7	143806792	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	8440409	143806792	15331871	25	5591										
ESYT2	57488	broad.mit.edu	37	chr7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gacttgagctgagtgttggtGgtctggaggcctttctcgct	15	8	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.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		Somatic				ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	p.H638D	NM_020728.2	NP_065779.1	WXS	Illumina GAIIx	Phase_I	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	26	98	---	---	---	---	C	158534551	G	C	158534551	3	2	126	1	0	0	0	0	1	0	0	0	5265	1348	47	4	793	4	ESYT2	7	158534551	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	14727759	158534551	604112	26	5592										
ARFGEF1	10565	broad.mit.edu	37	chr8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	cgtatctgtttattgtctcaGggtgtttgatttcactcatc	8	8	4	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.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		Somatic				ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	p.P656R	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	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	9	42	---	---	---	---	C	68178397	G	C	68178397	3	2	126	1	0	0	0	0	1	0	0	0	852	1000	35	4	3686	4	ARFGEF1	8	68178397	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		68178397	78185625	27	5593										
SULF1	23213	broad.mit.edu	37	chr8	70541903	70541903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	caaccactggcagacagcccCgttctggaaccgtaagttgc	10	14	1	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.chr8:70541903C>A	ENST00000260128.4	+	19	2990	c.2273C>A	c.(2272-2274)cCg>cAg	p.P758Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	758					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)			CAGACAGCCCCGTTCTGGAAC	0.522																																						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.(2272-2274)cCg>cAg		sulfatase 1							143	133	137					8																	70541903		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.chr8:70541903C>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.2273C>A	8.37:g.70541903C>A	ENSP00000260128:p.Pro758Gln		Somatic				SULF1_ENST00000458141.2_Missense_Mutation_p.P758Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P758Q	p.P758Q	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2990	+	Breast(64;0.0654)		758					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2273C>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751667	0.89753	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.055118	0.85682	D	0.000000	T	0.43678	0.1258	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.53486	-0.8432	10	0.87932	D	0	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	758	Q8IWU6	SULF1_HUMAN	Q	758	ENSP00000403040:P758Q;ENSP00000260128:P758Q;ENSP00000385704:P758Q;ENSP00000390315:P758Q	ENSP00000260128:P758Q	P	+	2	0	SULF1	70704457	1.000000	0.71417	0.949000	0.38748	0.929000	0.56500	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCG		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		4	158	4	158	---	---	---	---	A	70541903	C	A	70541903	3	1	126	1	0	0	0	0	1	0	0	0	15369	652	23	1	2331	1	SULF1	8	70541903	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	2363506	70541903	75822119	28	5594										
FAM135B	51059	broad.mit.edu	37	chr8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ggcactctgcaggcagcgggGgcatgctagtgaggtactcc	16	11	1	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.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)	Somatic					p.P389L	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	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	27	111	---	---	---	---	A	139180230	G	A	139180230	3	1	126	1	0	0	0	0	1	0	0	0	5449	1232	43	2	3090	2	FAM135B	8	139180230	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	68638327	139180230	7183792	29	5595										
CNTLN	54875	broad.mit.edu	37	chr9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aattgaagcaaggaaagaagTtgaagtatcacagagtaaat	10	3	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.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		Somatic				CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A	p.V296A			WXS	Illumina GAIIx	Phase_I	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	14	83	---	---	---	---	C	17273768	T	C	17273768	3	2	126	1	0	0	0	0	1	0	0	0	3639	1725	60	2	909	2	CNTLN	9	17273768	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		17273768	123939663	30	5596										
GBGT1	26301	broad.mit.edu	37	chr9	136029061	136029061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tgtcgtcccagaggtactcgGgggacagcaccttggacggc	15	12	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.chr9:136029061G>T	ENST00000372040.3	-	7	1258	c.947C>A	c.(946-948)cCc>cAc	p.P316H	GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|GBGT1_ENST00000372043.3_3'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	316					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)		GAGGTACTCGGGGGACAGCAC	0.587																																						ENST00000372040.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(946-948)cCc>cAc		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							136	129	131					9																	136029061		2203	4300	6503	SO:0001583	missense	26301							g.chr9:136029061G>T	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.947C>A	9.37:g.136029061G>T	ENSP00000361110:p.Pro316His		Somatic				GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.P299H|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_3'UTR	p.P316H	NM_001282629.1	NP_001269558.1	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1258	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.947C>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653145	0.88056	.	.	ENSG00000148288	ENST00000372040;ENST00000540636	T;T	0.05513	3.43;3.43	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46541	-0.9184	10	0.87932	D	0	-15.2873	18.0957	0.89489	0.0:0.0:1.0:0.0	.	299;316	B7Z8S5;Q8N5D6	.;GBGT1_HUMAN	H	316;299	ENSP00000361110:P316H;ENSP00000437663:P299H	ENSP00000361110:P316H	P	-	2	0	GBGT1	135018882	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	7.321000	0.79088	2.509000	0.84616	0.561000	0.74099	CCC		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		6	184	6	184	---	---	---	---	T	136029061	G	T	136029061	3	4	126	1	0	0	0	0	1	0	0	0	6272	1232	43	1	100	1	GBGT1	9	136029061	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	118755293	136029061	5184370	31	5597										
PAPSS2	9060	broad.mit.edu	37	chr10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tggcccccaaagcatggaagGtcctgacagattattacagg	11	10	0	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		Somatic				PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	p.V603I	NM_004670.3	NP_004661.2	WXS	Illumina GAIIx	Phase_I	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	7	100	---	---	---	---	A	89505689	G	A	89505689	3	1	126	1	0	0	0	0	1	0	0	0	11435	1261	44	2	1872	2	PAPSS2	10	89505689	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		89505689	46029058	32	5598										
CYP2C9	1559	broad.mit.edu	37	chr10	96741067	96741067	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agatacattgaccttctcccCaccagcctgccccatgcagt	6	17	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.chr10:96741067C>A	ENST00000260682.6	+	7	1101	c.1089C>A	c.(1087-1089)ccC>ccA	p.P363P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	363					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)	ACCTTCTCCCCACCAGCCTGC	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.(1087-1089)ccC>ccA		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)						188	154	165					10																	96741067		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:96741067C>A	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.1089C>A	10.37:g.96741067C>A			Somatic					p.P363P	NM_000771.3	NP_000762.2	WXS	Illumina GAIIx	Phase_I	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	7	1101	+		Colorectal(252;0.0902)	363					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1089C>A	CCDS7437.1																																																																																				0.502	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	144	6	144	---	---	---	---	A	96741067	C	A	96741067	2	1	126	1	0	0	0	0	0	0	0	1	4168	581	21	1		1	CYP2C9	10	96741067	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	7235378	96741067	38793680	33	5599										
NT5C2	22978	broad.mit.edu	37	chr10	104866420	104866420	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	atagaaactaatctctccacAgtaagctcaaaaccaaggga	6	10	2	1	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_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000343289.5_Silent_p.T73T			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			Somatic				NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000404739.3_Silent_p.T73T	p.T73T	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	WXS	Illumina GAIIx	Phase_I	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	5	164	---	---	---	---	C	104866420	A	C	104866420	2	2	126	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	8125353	104866420	30668327	34	5600										
FADS2	9415	broad.mit.edu	37	chr11	61607856	61607856	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aggaagacggctgaggacatGaacctgttcaagaccaacca	11	10	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.chr11:61607856G>T	ENST00000278840.4	+	3	999	c.369G>T	c.(367-369)atG>atT	p.M123I	FADS2_ENST00000522056.1_Missense_Mutation_p.M92I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000257261.6_Missense_Mutation_p.M101I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	123					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|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 plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTGAGGACATGAACCTGTTCA	0.542																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(367-369)atG>atT		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						174	156	162					11																	61607856		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607856G>T	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.369G>T	11.37:g.61607856G>T	ENSP00000278840:p.Met123Ile		Somatic				FADS2_ENST00000257261.6_Missense_Mutation_p.M101I|FADS2_ENST00000521849.1_Missense_Mutation_p.M123I|FADS2_ENST00000522056.1_Missense_Mutation_p.M92I	p.M123I	NM_004265.2	NP_004256.1	WXS	Illumina GAIIx	Phase_I	O95864	FADS2_HUMAN			3	999	+			123					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.369G>T	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785091	0.49997	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.50548	1.93;1.93;1.26;1.95;0.74;1.94	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000002	T	0.66665	0.2812	M	0.86651	2.83	0.41184	D	0.986252	B;B;P;P	0.41041	0.399;0.167;0.736;0.721	B;B;P;P	0.51193	0.096;0.104;0.662;0.454	T	0.70659	-0.4811	10	0.40728	T	0.16	-15.9121	17.3087	0.87202	0.0:0.0:1.0:0.0	.	92;123;123;101	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	I	101;92;1;123;1;123	ENSP00000257261:M101I;ENSP00000429500:M92I;ENSP00000430054:M1I;ENSP00000278840:M123I;ENSP00000430225:M1I;ENSP00000431091:M123I	ENSP00000257261:M101I	M	+	3	0	FADS2	61364432	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.277000	0.58939	2.414000	0.81942	0.436000	0.28706	ATG		0.542	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		5	155	5	155	---	---	---	---	T	61607856	G	T	61607856	3	4	126	1	0	0	0	0	1	0	0	0	5366	1290	45	3	379	3	FADS2	11	61607856	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		61607856	73398660	35	5601										
P2RX2	22953	broad.mit.edu	37	chr12	133197878	133197878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agatcaatggcaccaccaccCgcacgctcatcaaggcctac	7	17	3	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.chr12:133197878C>A	ENST00000389110.3	+	9	980	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S	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	315					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)			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)		CACCACCACCCGCACGCTCAT	0.612																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(943-945)Cgc>Agc		purinergic receptor P2X, ligand-gated ion channel, 2							196	175	182					12																	133197878		2203	4300	6503	SO:0001583	missense	22953				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.chr12:133197878C>A	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.943C>A	12.37:g.133197878C>A	ENSP00000373762:p.Arg315Ser		Somatic				P2RX2_ENST00000352418.4_Missense_Mutation_p.R243S|P2RX2_ENST00000348800.5_Missense_Mutation_p.R315S|P2RX2_ENST00000351222.4_Missense_Mutation_p.R223S|P2RX2_ENST00000343948.4_Missense_Mutation_p.R315S|P2RX2_ENST00000350048.5_Missense_Mutation_p.R291S|P2RX2_ENST00000449132.2_Missense_Mutation_p.R281S	p.R315S	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	WXS	Illumina GAIIx	Phase_I	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	9	980	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	315					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.943C>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429465	0.83776	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.96	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.93594	3.435	0.58432	D	0.999999	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;1.0;1.0;1.0;1.0;1.0;1.0	T	0.60449	-0.7261	10	0.72032	D	0.01	-31.9191	14.4493	0.67374	0.1476:0.8524:0.0:0.0	.	315;281;223;243;291;315;315;315	Q32MC3;Q9UBL9-7;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.;.;.;.;.;.;P2RX2_HUMAN;.	S	315;281;315;243;291;223;315	ENSP00000373762:R315S;ENSP00000405531:R281S;ENSP00000343339:R315S;ENSP00000341419:R243S;ENSP00000343904:R291S;ENSP00000344502:R223S;ENSP00000345095:R315S	ENSP00000343339:R315S	R	+	1	0	P2RX2	131707951	0.987000	0.35691	0.999000	0.59377	0.881000	0.50899	2.745000	0.47459	2.584000	0.87258	0.561000	0.74099	CGC		0.612	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			5	207	5	207	---	---	---	---	A	133197878	C	A	133197878	3	1	126	1	0	0	0	0	1	0	0	0	11340	652	23	1	977	1	P2RX2	12	133197878	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08		133197878	654017	36	5602										
SAV1	60485	broad.mit.edu	37	chr14	51132078	51132078	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tcaacagcaaaactaacttcCgttacaaatgactgagaaga	6	9	1	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.chr14:51132078C>A	ENST00000324679.4	-	2	717	c.354G>T	c.(352-354)acG>acT	p.T118T	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	118					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)					AACTAACTTCCGTTACAAATG	0.403																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(352-354)acG>acT		salvador homolog 1 (Drosophila)							27	26	26					14																	51132078		2202	4295	6497	SO:0001819	synonymous_variant	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132078C>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.354G>T	14.37:g.51132078C>A			Somatic					p.T118T	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	Q9H4B6	SAV1_HUMAN			2	717	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		118					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Silent	SNP	ENST00000324679.4	37	c.354G>T	CCDS9701.1																																																																																				0.403	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			3	19	3	19	---	---	---	---	A	51132078	C	A	51132078	2	1	126	1	0	0	0	0	0	0	0	1	13856	639	23	1		1	SAV1	14	51132078	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		51132078	56217462	37	5603										
MAGEL2	54551	broad.mit.edu	37	chr15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aaaggcattcagagaggcagGctgaaactgggaggtagctg	16	6	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.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		Somatic					p.P195S	NM_019066.4	NP_061939.3	WXS	Illumina GAIIx	Phase_I				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	8	89	---	---	---	---	A	23890498	G	A	23890498	3	1	126	1	0	0	0	0	1	0	0	0	9189	1203	42	2	1361	2	MAGEL2	15	23890498	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		23890498	78640894	38	5604										
KIAA1370	56204	broad.mit.edu	37	chr15	52901525	52901525	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ccttatttttcttcaacaaaTttttgtcttcatatgaactc	2	9	4	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.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		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T	p.N529T	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	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	31	85	---	---	---	---	G	52901525	T	G	52901525	3	3	126	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	39	5605										
ACAN	176	broad.mit.edu	37	chr15	89400579	89400579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tggagctgaggacctcagtgGgttgccttctggaaaagaag	15	7	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.chr15:89400579G>T	ENST00000561243.1	+	11	4763	c.4763G>T	c.(4762-4764)gGg>gTg	p.G1588V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V			P16112	PGCA_HUMAN	aggrecan	1622	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)			GACCTCAGTGGGTTGCCTTCT	0.537																																						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.(4762-4764)gGg>gTg		aggrecan							96	100	98					15																	89400579		1883	4128	6011	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400579G>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.4763G>T	15.37:g.89400579G>T	ENSP00000453342:p.Gly1588Val		Somatic				ACAN_ENST00000561243.1_Missense_Mutation_p.G1588V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1588V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1588V	p.G1588V	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5137	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1588					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4763G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591256	0.46214	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.98849	-5.18;-5.18	5.56	3.67	0.42095	.	0.253832	0.20781	N	0.085795	D	0.98883	0.9622	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.971	D	0.98829	1.0750	10	0.66056	D	0.02	-7.9197	10.5473	0.45068	0.0726:0.1335:0.7938:0.0	.	1588;1588	E7ENV9;E7EX88	.;.	V	1588;1588;1474	ENSP00000387356:G1588V;ENSP00000341615:G1588V	ENSP00000268134:G1474V	G	+	2	0	ACAN	87201583	1.000000	0.71417	0.193000	0.23327	0.861000	0.49209	4.122000	0.57910	0.701000	0.31803	0.561000	0.74099	GGG		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	165	5	165	---	---	---	---	T	89400579	G	T	89400579	3	4	126	1	0	0	0	0	1	0	0	0	117	1232	43	1	4805	1	ACAN	15	89400579	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	36499054	89400579	13130813	40	5606										
MCTP2	55784	broad.mit.edu	37	chr15	95013613	95013613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tctctggcctgtttgattctGgcagcagccaccatcatttt	8	12	3	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.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			Somatic				MCTP2_ENST00000451018.3_Silent_p.L749L	p.L804L	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	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	4	171	---	---	---	---	A	95013613	G	A	95013613	2	1	126	1	0	0	0	0	0	0	0	1	9401	1335	47	2		2	MCTP2	15	95013613	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	5613034	95013613	7517779	41	5607										
LUC7L	55692	broad.mit.edu	37	chr16	242931	242931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agccctcaggctcacctcctGctcagacgctcctcccgttc	7	20	3	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	16	229	---	---	---	---	C	242931	G	C	242931	3	2	126	1	0	0	0	0	1	0	0	0	9082	1310	46	4	364	4	LUC7L	16	242931	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		242931	90111822	42	5608										
C16orf89	146556	broad.mit.edu	37	chr16	5094359	5094359	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	accgtccgtctcagcggctgCttggtggtggcggtgtggat	17	10	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.chr16:5094359C>T	ENST00000315997.5	-	0	1635				C16orf89_ENST00000422873.1_Missense_Mutation_p.S397N|RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000350219.4_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			Somatic				C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR|ALG1_ENST00000588623.1_Intron	p.S397N	NM_001098514.2	NP_001091984.2	WXS	Illumina GAIIx	Phase_I	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	9	111	---	---	---	---	T	5094359	C	T	5094359	1	4	126	0	1	0	0	0	0	0	0	0	1842	797	28	2		2	C16orf89	16	5094359	3'UTR	SNP	C	TCGA-G9-6333-01A-12D-1961-08	4851428	5094359	85260394	43	5609										
GDPD3	79153	broad.mit.edu	37	chr16	30122799	30122799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ggtagtaggaaagcagcaccCagaatcctcggcttattgtg	12	9	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.chr16:30122799C>A	ENST00000406256.3	-	7	994	c.617G>T	c.(616-618)tGg>tTg	p.W206L	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GP-PDE.				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						AAGCAGCACCCAGAATCCTCG	0.557																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(616-618)tGg>tTg		glycerophosphodiester phosphodiesterase domain containing 3							133	135	135					16																	30122799		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30122799C>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.617G>T	16.37:g.30122799C>A	ENSP00000384363:p.Trp206Leu		Somatic					p.W206L	NM_024307.2	NP_077283.2	WXS	Illumina GAIIx	Phase_I	Q7L5L3	GDPD3_HUMAN			7	994	-			206			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.617G>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392916	0.01185	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.29397	1.57	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.502196	0.22510	N	0.059106	T	0.22551	0.0544	L	0.29908	0.895	0.34287	D	0.682776	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.10902	T	0.67	.	15.107	0.72329	0.0:1.0:0.0:0.0	.	206	Q7L5L3	GDPD3_HUMAN	L	206;144	ENSP00000384363:W206L	ENSP00000353909:W144L	W	-	2	0	GDPD3	30030300	0.685000	0.27652	0.431000	0.26735	0.021000	0.10359	3.385000	0.52485	2.615000	0.88500	0.655000	0.94253	TGG		0.557	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		5	176	5	176	---	---	---	---	A	30122799	C	A	30122799	3	1	126	1	0	0	0	0	1	0	0	0	6325	595	21	1	355	1	GDPD3	16	30122799	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	25028440	30122799	60231954	44	5610										
SLC38A8	146167	broad.mit.edu	37	chr16	84050752	84050752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agccaggcctcacctccccaGgaagagcacgatggggtaga	13	13	1	2	rs192615462	byFrequency	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.chr16:84050752G>T	ENST00000299709.3	-	7	945	c.946C>A	c.(946-948)Ctg>Atg	p.L316M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	316					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						CACCTCCCCAGGAAGAGCACG	0.567																																						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.(946-948)Ctg>Atg		solute carrier family 38, member 8							86	70	75					16																	84050752		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050752G>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.946C>A	16.37:g.84050752G>T	ENSP00000299709:p.Leu316Met		Somatic					p.L316M	NM_001080442.1	NP_001073911.1	WXS	Illumina GAIIx	Phase_I	A6NNN8	S38A8_HUMAN			7	945	-			316						Missense_Mutation	SNP	ENST00000299709.3	37	c.946C>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137847	0.56936	.	.	ENSG00000166558	ENST00000299709	T	0.02395	4.31	4.75	3.79	0.43588	.	0.285558	0.28618	U	0.014714	T	0.10766	0.0263	M	0.63843	1.955	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.01375	-1.1371	10	0.49607	T	0.09	-11.7939	9.1687	0.37067	0.18:0.0:0.82:0.0	.	316	A6NNN8	S38A8_HUMAN	M	316	ENSP00000299709:L316M	ENSP00000299709:L316M	L	-	1	2	SLC38A8	82608253	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.161000	0.58170	0.993000	0.38866	0.478000	0.44815	CTG		0.567	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		4	53	4	53	---	---	---	---	T	84050752	G	T	84050752	3	4	126	1	0	0	0	0	1	0	0	0	14610	991	35	1	377	1	SLC38A8	16	84050752	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	53927953	84050752	6304001	45	5611										
ZNF594	84622	broad.mit.edu	37	chr17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gatctgagctacccctaaaaGatttcccacatttgttgcat	6	11	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.chr17:5085657G>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		Somatic				ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F	p.S632F			WXS	Illumina GAIIx	Phase_I	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	11	174	---	---	---	---	A	5085657	G	A	5085657	3	1	126	1	0	0	0	0	1	0	0	0	18021	942	33	2	532	2	ZNF594	17	5085657	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		5085657	76109553	46	5612										
JUP	3728	broad.mit.edu	37	chr17	39919332	39919332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tctgggccatctcggcctcaGggtggcggctagtgaggtgg	18	10	3	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.chr17:39919332G>T	ENST00000393931.3	-	8	1518	c.1400C>A	c.(1399-1401)cCt>cAt	p.P467H	JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	467					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)		CTCGGCCTCAGGGTGGCGGCT	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.(1399-1401)cCt>cAt		junction plakoglobin							90	78	82					17																	39919332		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.chr17:39919332G>T	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.1400C>A	17.37:g.39919332G>T	ENSP00000377508:p.Pro467His		Somatic				JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.P467H|JUP_ENST00000310706.5_Missense_Mutation_p.P467H	p.P467H	NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	8	1518	-		Breast(137;0.000162)	467					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1400C>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626913	0.46840	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.69806	-0.43;-0.43;-0.43	5.17	4.16	0.48862	Armadillo-like helical (1);Armadillo-type fold (1);	0.156878	0.64402	D	0.000020	T	0.69584	0.3127	M	0.70595	2.14	0.80722	D	1	P	0.52463	0.953	P	0.47981	0.563	T	0.73799	-0.3869	10	0.59425	D	0.04	-30.3359	12.3975	0.55393	0.0:0.0:0.7092:0.2908	.	467	P14923	PLAK_HUMAN	H	467	ENSP00000377507:P467H;ENSP00000311113:P467H;ENSP00000377508:P467H	ENSP00000311113:P467H	P	-	2	0	JUP	37172858	1.000000	0.71417	0.975000	0.42487	0.969000	0.65631	3.248000	0.51430	2.681000	0.91329	0.561000	0.74099	CCT		0.617	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			4	69	4	69	---	---	---	---	T	39919332	G	T	39919332	3	4	126	1	0	0	0	0	1	0	0	0	7972	1000	35	1	865	1	JUP	17	39919332	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	34833675	39919332	41275878	47	5613										
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	11	3	2	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_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_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>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)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_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	WXS	Illumina GAIIx	Phase_I	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	27	117	---	---	---	---	T	47696424	G	T	47696424	3	4	126	1	0	0	0	0	1	0	0	0	15083	1281	45	3	749	3	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	7777092	47696424	33498786	48	5614										
USP36	57602	broad.mit.edu	37	chr17	76803039	76803039	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ggcgagacccccacacacccAccttcttggcagaaagggcc	10	17	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_ENST00000449938.2_Splice_Site|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Splice_Site			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																																						ENST00000542802.3																			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			Somatic				USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000312010.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2529	-								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	8	90	---	---	---	---	C	76803039	A	C	76803039	5	2	126	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	49	5615										
SS18	6760	broad.mit.edu	37	chr18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tacttacctggtcatatccaTaaggcctctgctggggtggc	11	11	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.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_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000545952.1_Missense_Mutation_p.Y323S	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		Somatic				SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	p.Y406S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	WXS	Illumina GAIIx	Phase_I	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	6	196	---	---	---	---	G	23612376	T	G	23612376	3	3	126	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	50	5616										
AQP4	361	broad.mit.edu	37	chr18	24436180	24436180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	agtgcgatcttctagtcataCtgaagacaatacctctccag	7	11	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.chr18:24436180C>A	ENST00000383168.4	-	5	1095	c.967G>T	c.(967-969)Gta>Tta	p.V323L	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	323					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)					TCTAGTCATACTGAAGACAAT	0.433																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(967-969)Gta>Tta		aquaporin 4							245	225	232					18																	24436180		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.chr18:24436180C>A	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.967G>T	18.37:g.24436180C>A	ENSP00000372654:p.Val323Leu		Somatic				AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.V301L|AQP4_ENST00000440832.3_Missense_Mutation_p.V301L|AQP4-AS1_ENST00000582605.1_RNA	p.V323L	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	WXS	Illumina GAIIx	Phase_I	P55087	AQP4_HUMAN			5	1095	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		323					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.967G>T	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289513	0.95517	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.87412	-2.25	5.84	5.84	0.93424	.	0.168688	0.51477	D	0.000099	D	0.85195	0.5641	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	P	0.46796	0.527	D	0.86931	0.2073	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	323	P55087	AQP4_HUMAN	L	323;303;219	ENSP00000372654:V323L	ENSP00000372654:V323L	V	-	1	0	AQP4	22690178	1.000000	0.71417	0.971000	0.41717	0.895000	0.52256	7.154000	0.77437	2.764000	0.94973	0.650000	0.86243	GTA		0.433	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		4	239	4	239	---	---	---	---	A	24436180	C	A	24436180	3	1	126	1	0	0	0	0	1	0	0	0	828	565	20	3	8	3	AQP4	18	24436180	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	823804	24436180	53641068	51	5617										
ZNF845	91664	broad.mit.edu	37	chr19	53855875	53855875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	gctttcagtttcaaatcaaaCcttcaaagacataggagaat	6	8	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.chr19:53855875C>A	ENST00000595091.1	+	5	2166	c.1947C>A	c.(1945-1947)aaC>aaA	p.N649K	ZNF845_ENST00000458035.1_Missense_Mutation_p.N649K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	649					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAAATCAAACCTTCAAAGAC	0.398																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1945-1947)aaC>aaA		zinc finger protein 845							20	19	19					19																	53855875		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855875C>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.1947C>A	19.37:g.53855875C>A	ENSP00000470005:p.Asn649Lys		Somatic				ZNF845_ENST00000595091.1_Missense_Mutation_p.N649K	p.N649K	NM_138374.1	NP_612383.1	WXS	Illumina GAIIx	Phase_I	Q96IR2	ZN845_HUMAN			4	2064	+			649						Missense_Mutation	SNP	ENST00000595091.1	37	c.1947C>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.691599	0.00731	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07021	3.23	1.82	-0.787	0.10943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.21373	0.66	0.09310	N	1	P	0.47677	0.899	B	0.42653	0.394	T	0.15694	-1.0428	9	0.05959	T	0.93	.	2.8072	0.05431	0.2143:0.4937:0.0:0.292	.	649	Q96IR2	ZN845_HUMAN	K	649	ENSP00000388311:N649K	ENSP00000412086:N649K	N	+	3	2	ZNF845	58547687	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.101000	0.01344	-0.303000	0.08856	0.306000	0.20318	AAC		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	36	3	36	---	---	---	---	A	53855875	C	A	53855875	3	1	126	1	0	0	0	0	1	0	0	0	18188	506	18	3	1957	3	ZNF845	19	53855875	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08		53855875	5273108	52	5618										
ZFP28	140612	broad.mit.edu	37	chr19	57065372	57065372	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	aattttcaaaaaagttcagtGgtaataaaacaaacaggcat	6	5	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.chr19:57065372G>T	ENST00000301318.3	+	8	1289	c.1218G>T	c.(1216-1218)gtG>gtT	p.V406V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	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)			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)		AAAGTTCAGTGGTAATAAAAC	0.318																																					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.(1216-1218)gtG>gtT		ZFP28 zinc finger protein							59	68	65					19																	57065372		2202	4296	6498	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065372G>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.1218G>T	19.37:g.57065372G>T			Somatic				AC007228.11_ENST00000596587.1_RNA	p.V406V	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1289	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	406					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.1218G>T	CCDS12946.1																																																																																				0.318	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	126	5	126	---	---	---	---	T	57065372	G	T	57065372	2	4	126	1	0	0	0	0	0	0	0	1	17639	1335	47	1		1	ZFP28	19	57065372	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	3209497	57065372	2063611	53	5619										
ZSCAN1	284312	broad.mit.edu	37	chr19	58549488	58549488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	cgcgctgcccagcaagatgcGgacctgggtgcagtcacagg	15	13	1	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.chr19:58549488G>T	ENST00000282326.1	+	3	531	c.284G>T	c.(283-285)cGg>cTg	p.R95L	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)		AGCAAGATGCGGACCTGGGTG	0.687																																						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.(283-285)cGg>cTg		zinc finger and SCAN domain containing 1							15	15	15					19																	58549488		2197	4290	6487	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549488G>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.284G>T	19.37:g.58549488G>T	ENSP00000282326:p.Arg95Leu		Somatic				ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R95L|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R95L	p.R95L	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	531	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	95			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.284G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057795	0.76074	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04917	3.53;3.53	2.21	1.13	0.20643	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17704	0.0425	M	0.73598	2.24	0.09310	N	1	D;D	0.71674	0.98;0.998	P;D	0.65987	0.908;0.94	T	0.08229	-1.0732	9	0.66056	D	0.02	.	4.4503	0.11617	0.207:0.0:0.793:0.0	.	95;95	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	L	95	ENSP00000375581:R95L;ENSP00000282326:R95L	ENSP00000282326:R95L	R	+	2	0	ZSCAN1	63241300	0.000000	0.05858	0.003000	0.11579	0.970000	0.65996	-0.297000	0.08276	0.254000	0.21573	0.393000	0.25936	CGG		0.687	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		5	20	5	20	---	---	---	---	T	58549488	G	T	58549488	3	4	126	1	0	0	0	0	1	0	0	0	18223	1116	39	1	286	1	ZSCAN1	19	58549488	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	1484116	58549488	579495	54	5620										
COL6A1	1291	broad.mit.edu	37	chr21	47423618	47423618	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	ctgggctatgtgacccgcttCtaccgcgaggcctcgtccgg	13	15	1	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.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			Somatic				COL6A1_ENST00000498614.1_3'UTR	p.F926F	NM_001848.2	NP_001839.2	WXS	Illumina GAIIx	Phase_I	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	7	27	---	---	---	---	T	47423618	C	T	47423618	2	4	126	1	0	0	0	0	0	0	0	1	3699	912	32	2		2	COL6A1	21	47423618	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		47423618	706277	55	5621										
RNF215	200312	broad.mit.edu	37	chr22	30776081	30776081	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	cagaagtagtccaggcacacCgcacaggtctcagcacccgg	11	15	1	1	rs567963097		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.chr22:30776081C>A	ENST00000382363.3	-	7	1052	c.978G>T	c.(976-978)gcG>gcT	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																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcT		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>A		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>T	22.37:g.30776081C>A			Somatic					p.A326A	NM_001017981.1	NP_001017981.1	WXS	Illumina GAIIx	Phase_I	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369348	0.01225	.	.	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	.	.	.	.	C	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		4	147	4	147	---	---	---	---	A	30776081	C	A	30776081	2	1	126	1	0	0	0	0	0	0	0	1	13479	639	23	1		1	RNF215	22	30776081	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		30776081	20528485	56	5622										
ACR	49	broad.mit.edu	37	chr22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0350877192982456	2	1	0.886605244507441	0	1.15940685820204	0.444444444444444	1	0	tgggcgcttcattgggccggGctgcctgccccactttaagg	14	13	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.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	ACR_ENST00000529621.1_Missense_Mutation_p.G161D|AC002056.5_ENST00000532913.1_RNA|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		Somatic				ACR_ENST00000529621.1_Missense_Mutation_p.G161D	p.G161D	NM_001097.2	NP_001088.2	WXS	Illumina GAIIx	Phase_I	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	18	104	---	---	---	---	A	51178322	G	A	51178322	3	1	126	1	0	0	0	0	1	0	0	0	169	1203	42	2	492	2	ACR	22	51178322	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	20402241	51178322	126244	57	5623										
HRNR	388697	broad.mit.edu	37	chr1	152192307	152192307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	atgacccgagctagatccgtGttgaccgtagccagaggact	12	11	0	4	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_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_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		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H600N	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	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	47	427	---	---	---	---	T	152192307	G	T	152192307	3	4	127	1	0	0	0	0	1	0	0	0	7359	1377	48	3	6758	3	HRNR	1	152192307	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		152192307	97058314	1	5624										
PCDHA4	56144	broad.mit.edu	37	chr5	140187163	140187163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	gggacattaacgataacccgCcggtgttcccagcaacacaa	9	13	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.chr5:140187163C>A	ENST00000530339.1	+	1	391	c.391C>A	c.(391-393)Ccg>Acg	p.P131T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	131	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.P131T(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)			CGATAACCCGCCGGTGTTCCC	0.592																																						ENST00000530339.1																			2	Substitution - Missense(2)	p.P131T(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.(391-393)Ccg>Acg									83	86	85					5																	140187163		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140187163C>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.391C>A	5.37:g.140187163C>A	ENSP00000435300:p.Pro131Thr		Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T	p.P131T	NM_018907.2	NP_061730.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	391	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.391C>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.823717	0.50739	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	D;D;D	0.81499	-1.5;-1.5;-1.5	4.62	4.62	0.57501	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.40469	U	0.001098	D	0.94424	0.8206	H	0.99197	4.465	0.46542	D	0.999098	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97193	0.9859	10	0.87932	D	0	.	17.8071	0.88605	0.0:1.0:0.0:0.0	.	131;131;131	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	131	ENSP00000423470:P131T;ENSP00000349344:P131T;ENSP00000435300:P131T	ENSP00000349344:P131T	P	+	1	0	PCDHA4	140167347	1.000000	0.71417	0.916000	0.36221	0.096000	0.18686	7.565000	0.82337	2.284000	0.76573	0.563000	0.77884	CCG		0.592	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	150	4	150	---	---	---	---	A	140187163	C	A	140187163	3	1	127	1	0	0	0	0	1	0	0	0	11526	739	26	3	393	3	PCDHA4	5	140187163	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		140187163	40728097	2	5625										
CD109	135228	broad.mit.edu	37	chr6	74491004	74491004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	atgtggactctgggtattgaCagatgcaaacctcacgaagg	12	8	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.chr6:74491004C>A	ENST00000287097.5	+	17	2037	c.1925C>A	c.(1924-1926)aCa>aAa	p.T642K	CD109_ENST00000422508.2_Missense_Mutation_p.T565K|CD109_ENST00000437994.2_Missense_Mutation_p.T642K			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	72	---	---	---	---	A	74491004	C	A	74491004	3	1	127	1	0	0	0	0	1	0	0	0	2963	478	17	3	1991	3	CD109	6	74491004	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		74491004	96624063	3	5626										
MKLN1	4289	broad.mit.edu	37	chr7	131172448	131172449	+	Missense_Mutation	DNP	TC	TC	GA													0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	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.chr7:131172448_131172449TC>GA	ENST00000352689.6	+	18	2209_2210	c.2169_2170TC>GA	c.(2167-2172)acTCct>acGAct	p.P724T	MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	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)|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)					ACAGCATGACTCCTCCTAAAGG	0.431																																						ENST00000352689.6																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.T723T(1)|p.P724T(1)	prostate(2)	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|c.(2170-2172)Cct>Act		muskelin 1, intracellular mediator containing kelch motifs																																				SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172448T>G|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	Exception_encountered	7.37:g.131172448_131172449delinsGA	ENSP00000323527:p.Pro724Thr		Somatic				MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	p.T723T|p.P724T	NM_013255.4	NP_037387.2	WXS	Illumina GAIIx	Phase_I	Q9UL63	MKLN1_HUMAN			18	2209|2210	+	Melanoma(18;0.162)		723|724					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent|Missense_Mutation	SNP	ENST00000352689.6	37	c.2169T>G|c.2170C>A	CCDS34754.1																																																																																				0.431	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		12	56	12	56	---	---	---	---	GA	131172449	TC	GA	131172448	3	3	127	1	0	0	0	0	1	0	0	0	9603	1538	54	5	2272	5	MKLN1	7	131172448	Missense_Mutation	DNP	TC	TCGA-G9-6336-01A-11D-1786-08		131172448	27966215	4	5627										
PXDNL	137902	broad.mit.edu	37	chr8	52320734	52320734	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	ctgaagtcaacatatggtggGatcccgtggtctctacccct	10	12	2	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.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			Somatic				PXDNL_ENST00000543296.1_Silent_p.I1150I	p.I1150I	NM_144651.4	NP_653252	WXS	Illumina GAIIx	Phase_I	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	20	163	---	---	---	---	T	52320734	G	T	52320734	2	4	127	1	0	0	0	0	0	0	0	1	12848	1164	41	3		3	PXDNL	8	52320734	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		52320734	94043288	5	5628										
RASEF	158158	broad.mit.edu	37	chr9	85597623	85597623	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	aacaattcttcatctgtggtGactttttggaattggtcccg	9	8	3	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.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		Somatic					p.S731L	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	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	22	178	---	---	---	---	A	85597623	G	A	85597623	3	1	127	1	0	0	0	0	1	0	0	0	13068	1294	45	2	34	2	RASEF	9	85597623	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		85597623	55615808	6	5629										
KIF11	3832	broad.mit.edu	37	chr10	94390060	94390060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	taaattacaacttgttaaagAagaatatatcacatcagctt	4	6	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.chr10:94390060A>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		Somatic					p.E478G	NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	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	7	46	---	---	---	---	G	94390060	A	G	94390060	3	3	127	1	0	0	0	0	1	0	0	0	8272	246	9	2	1479	2	KIF11	10	94390060	Missense_Mutation	SNP	A	TCGA-G9-6336-01A-11D-1786-08		94390060	41144687	7	5630										
COL17A1	1308	broad.mit.edu	37	chr10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	ggggcccagggggccctggcGggcctgacacgtacatggta	18	12	0	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.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		Somatic				COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	p.P994L	NM_000494.3	NP_000485.3	WXS	Illumina GAIIx	Phase_I	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	23	165	---	---	---	---	A	105798253	G	A	105798253	3	1	127	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	8	5631										
ARHGAP20	57569	broad.mit.edu	37	chr11	110450382	110450382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	ggggacagtccttcagctgcCcttaagggcaagtctttttg	12	10	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.chr11:110450382C>T	ENST00000260283.4	-	16	3572	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R|ARHGAP20_ENST00000529591.1_Silent_p.R639R	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			Somatic				ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	p.R1096R	NM_020809.3	NP_065860.2	WXS	Illumina GAIIx	Phase_I	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	4	139	---	---	---	---	T	110450382	C	T	110450382	2	4	127	1	0	0	0	0	0	0	0	1	870	622	22	2		2	ARHGAP20	11	110450382	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08		110450382	24556134	9	5632										
ARID2	196528	broad.mit.edu	37	chr12	46243943	46243943	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	ggtgttcatactgtggcacaAactgtttcaagaattccaca	8	9	2	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.chr12:46243943A>T	ENST00000334344.6	+	15	2209	c.2037A>T	c.(2035-2037)caA>caT	p.Q679H	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H	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		Somatic				ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H	p.Q679H	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	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	17	125	---	---	---	---	T	46243943	A	T	46243943	3	4	127	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	10	5633										
RCBTB2	1102	broad.mit.edu	37	chr13	49076874	49076874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	gcttacccacggagaggaggCgccacgtgacggcgggcgtg	18	12	0	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.chr13:49076874C>A	ENST00000344532.3	-	11	1526	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L	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		Somatic				RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L	p.R368L	NM_001268.2	NP_001259.1	WXS	Illumina GAIIx	Phase_I	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	15	106	---	---	---	---	A	49076874	C	A	49076874	3	1	127	1	0	0	0	0	1	0	0	0	13172	768	27	3	572	3	RCBTB2	13	49076874	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		49076874	66093004	11	5634										
RASA3	22821	broad.mit.edu	37	chr13	114780695	114780695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	gggcactcaccctggaagcgCttggccgccgcctcccggag	14	17	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.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			Somatic				RASA3_ENST00000389544.4_Silent_p.K433K	p.K465K	NM_007368.2	NP_031394.2	WXS	Illumina GAIIx	Phase_I	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	5	145	---	---	---	---	T	114780695	C	T	114780695	2	4	127	1	0	0	0	0	0	0	0	1	13062	796	28	2		2	RASA3	13	114780695	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08	65703821	114780695	389183	12	5635										
ZNF585B	92285	broad.mit.edu	37	chr19	37677246	37677246	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	tatgaattctctgatgcactGtgagtgctgacttctgagtg	11	7	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.chr19:37677246G>C	ENST00000532828.2	-	5	1444	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'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		Somatic				ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron	p.T398R	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	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	3	91	---	---	---	---	C	37677246	G	C	37677246	3	2	127	1	0	0	0	0	1	0	0	0	18015	1377	48	4	1120	4	ZNF585B	19	37677246	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		37677246	21451737	13	5636										
DSN1	79980	broad.mit.edu	37	chr20	35399437	35399437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	tttcctggtggctgagatcaCaatttcccccttttttaggg	9	10	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.chr20:35399437C>T	ENST00000426836.1	-	3	566	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y|DSN1_ENST00000373734.4_Intron	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		Somatic				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|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y	p.C65Y	NM_001145316.1	NP_001138788.1	WXS	Illumina GAIIx	Phase_I	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	11	186	---	---	---	---	T	35399437	C	T	35399437	3	4	127	1	0	0	0	0	1	0	0	0	4780	478	17	2	912	2	DSN1	20	35399437	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		35399437	27626083	14	5637										
SUSD2	56241	broad.mit.edu	37	chr22	24581177	24581177	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0666666666666667	1	1	1.15789473684211	0	1.62105263157895	1	1	0	gccaggcctgggaggagctgGaggatcagctgcccaacttc	15	12	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.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		Somatic					p.E300Q	NM_019601.3	NP_062547.1	WXS	Illumina GAIIx	Phase_I	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	10	46	---	---	---	---	C	24581177	G	C	24581177	3	2	127	1	0	0	0	0	1	0	0	0	15405	1175	41	4	920	4	SUSD2	22	24581177	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		24581177	26723389	15	5638										
UBR4	23352	broad.mit.edu	37	chr1	19488928	19488928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttactgaatcctcagcctGggaatcttcctcttccaccg	6	15	3	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.chr1:19488928G>T	ENST00000375254.3	-	35	4969	c.4942C>A	c.(4942-4944)Cag>Aag	p.Q1648K	UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375267.2_Missense_Mutation_p.Q1648K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1648					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)		TCCTCAGCCTGGGAATCTTCC	0.502																																						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.(4942-4944)Cag>Aag		ubiquitin protein ligase E3 component n-recognin 4							126	117	120					1																	19488928		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.chr1:19488928G>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.4942C>A	1.37:g.19488928G>T	ENSP00000364403:p.Gln1648Lys		Somatic				UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375254.3_Missense_Mutation_p.Q1648K	p.Q1648K			WXS	Illumina GAIIx	Phase_I	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	4945	-		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)	1648					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.4942C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745206	0.49151	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	N	0.22421	0.69	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.51244	-0.8730	10	0.06625	T	0.88	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1648	Q5T4S7	UBR4_HUMAN	K	1648;1648;1648;1648;358;864	ENSP00000364403:Q1648K;ENSP00000364416:Q1648K;ENSP00000364365:Q1648K;ENSP00000364374:Q1648K	ENSP00000364365:Q1648K	Q	-	1	0	UBR4	19361515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.894000	0.99253	0.591000	0.81541	CAG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	174	8	174	---	---	---	---	T	19488928	G	T	19488928	3	4	128	1	0	0	0	0	1	0	0	0	16901	1357	47	1	10897	1	UBR4	1	19488928	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		19488928	229761693	1	5639										
DNALI1	7802	broad.mit.edu	37	chr1	38023281	38023281	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacccaagaccaagctcccCtcaactccctgtgtcccaga	5	20	1	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.chr1:38023281C>A	ENST00000296218.7	+	2	235	c.225C>A	c.(223-225)ccC>ccA	p.P75P	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	53					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(223-225)ccC>ccA		dynein, axonemal, light intermediate chain 1							174	169	170					1																	38023281		2203	4300	6503	SO:0001819	synonymous_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38023281C>A	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.225C>A	1.37:g.38023281C>A			Somatic				DNALI1_ENST00000541606.1_5'UTR	p.P75P	NM_003462.3	NP_003453.2	WXS	Illumina GAIIx	Phase_I	O14645	IDLC_HUMAN			2	235	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	53					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Silent	SNP	ENST00000296218.7	37	c.225C>A	CCDS420.1																																																																																				0.562	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		7	202	7	202	---	---	---	---	A	38023281	C	A	38023281	2	1	128	1	0	0	0	0	0	0	0	1	4659	668	24	1		1	DNALI1	1	38023281	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	18534353	38023281	211227340	2	5640										
MFSD2A	84879	broad.mit.edu	37	chr1	40422864	40422864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtgccctgggtttcttcCttcagatctacctattggat	9	11	3	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.chr1:40422864C>A	ENST00000372809.5	+	2	342	c.199C>A	c.(199-201)Ctt>Att	p.L67I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	67					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						GGGTTTCTTCCTTCAGATCTA	0.532																																						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.(199-201)Ctt>Att		major facilitator superfamily domain containing 2A							175	179	178					1																	40422864		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40422864C>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.199C>A	1.37:g.40422864C>A	ENSP00000361895:p.Leu67Ile		Somatic				MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I	p.L67I	NM_001136493.1	NP_001129965.1	WXS	Illumina GAIIx	Phase_I	Q8NA29	MFS2A_HUMAN			2	342	+			67					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.199C>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639046	0.87760	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.90955	-2.76;-2.76;-2.76	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.77103	2.36	0.80722	D	1	D;P	0.56035	0.974;0.916	P;P	0.59115	0.852;0.674	D	0.94920	0.8072	10	0.62326	D	0.03	-9.129	16.9853	0.86338	0.0:1.0:0.0:0.0	.	67;67	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	I	67;65;67	ENSP00000361898:L67I;ENSP00000407606:L65I;ENSP00000361895:L67I	ENSP00000361895:L67I	L	+	1	0	MFSD2A	40195451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.948000	0.49066	2.250000	0.74265	0.462000	0.41574	CTT		0.532	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		8	217	8	217	---	---	---	---	A	40422864	C	A	40422864	3	1	128	1	0	0	0	0	1	0	0	0	9530	681	24	1	205	1	MFSD2A	1	40422864	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2399583	40422864	208827757	3	5641										
FOXJ3	22887	broad.mit.edu	37	chr1	42657173	42657173	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtaaaccatgcggtcgatgGggaggatgtggagatggctg	19	5	0	1	rs1139979		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.chr1:42657173G>T	ENST00000372572.1	-	11	1463	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000361776.1_Silent_p.P350P|FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000545068.1_Silent_p.P384P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	384					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)				GCGGTCGATGGGGAGGATGTG	0.602																																						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.(1150-1152)ccC>ccA		forkhead box J3							440	350	381					1																	42657173		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.chr1:42657173G>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.1152C>A	1.37:g.42657173G>T			Somatic				FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000545068.1_Silent_p.P384P|FOXJ3_ENST00000361776.1_Silent_p.P350P	p.P384P	NM_001198851.1	NP_001185780.1	WXS	Illumina GAIIx	Phase_I	Q9UPW0	FOXJ3_HUMAN			11	1463	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	384					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.1152C>A	CCDS30689.1																																																																																				0.602	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		9	194	9	194	---	---	---	---	T	42657173	G	T	42657173	2	4	128	1	0	0	0	0	0	0	0	1	6013	1219	43	1		1	FOXJ3	1	42657173	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2234309	42657173	206593448	4	5642										
DPYD	1806	broad.mit.edu	37	chr1	98039454	98039454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcatagcaacaattctccCaccttttactataaccttcc	2	15	1	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.chr1:98039454C>A	ENST00000370192.3	-	11	1301	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	401					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)	ACAATTCTCCCACCTTTTACT	0.413																																						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.(1201-1203)Ggg>Tgg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						147	128	134					1																	98039454		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.chr1:98039454C>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.1201G>T	1.37:g.98039454C>A	ENSP00000359211:p.Gly401Trp		Somatic					p.G401W	NM_000110.3	NP_000101	WXS	Illumina GAIIx	Phase_I	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)	11	1301	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	401					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1201G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883393	0.72410	.	.	ENSG00000188641	ENST00000370192	D	0.96011	-3.88	5.81	4.89	0.63831	.	0.351548	0.33040	N	0.005341	D	0.98595	0.9530	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.99395	1.0926	10	0.87932	D	0	-6.4631	14.9729	0.71249	0.0:0.8576:0.1424:0.0	.	401	Q12882	DPYD_HUMAN	W	401	ENSP00000359211:G401W	ENSP00000359211:G401W	G	-	1	0	DPYD	97812042	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.716000	0.68437	1.436000	0.47453	0.650000	0.86243	GGG		0.413	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	84	5	84	---	---	---	---	A	98039454	C	A	98039454	3	1	128	1	0	0	0	0	1	0	0	0	4745	594	21	1	1928	1	DPYD	1	98039454	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	55382281	98039454	151211167	5	5643										
DPH5	51611	broad.mit.edu	37	chr1	101479332	101479332	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataactctataaggaattccCagctttgttgctcttagaac	6	9	2	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.chr1:101479332C>A	ENST00000370109.3	-	4	415	c.303G>T	c.(301-303)ctG>ctT	p.L101L	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	101					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)		AAGGAATTCCCAGCTTTGTTG	0.383																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(301-303)ctG>ctT		diphthamide biosynthesis 5							149	138	141					1																	101479332		1861	4104	5965	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101479332C>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.303G>T	1.37:g.101479332C>A			Somatic				DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L|DPH5_ENST00000370105.3_5'UTR	p.L101L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	WXS	Illumina GAIIx	Phase_I	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)	4	415	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	101					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.303G>T	CCDS41358.1																																																																																				0.383	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		6	119	6	119	---	---	---	---	A	101479332	C	A	101479332	2	1	128	1	0	0	0	0	0	0	0	1	4723	581	21	1		1	DPH5	1	101479332	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3439878	101479332	147771289	6	5644										
CELSR2	1952	broad.mit.edu	37	chr1	109794119	109794119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccaaggagtacaccctacGggtgcgagcacaggatggtg	15	10	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.chr1:109794119G>T	ENST00000271332.3	+	1	1479	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	473	Cadherin 3. {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)		TACACCCTACGGGTGCGAGCA	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.(1417-1419)cGg>cTg		cadherin, EGF LAG seven-pass G-type receptor 2							171	166	168					1																	109794119		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.chr1:109794119G>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.1418G>T	1.37:g.109794119G>T	ENSP00000271332:p.Arg473Leu		Somatic					p.R473L	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	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	1479	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	473			Cadherin 3.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1418G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	12.92	2.081716	0.36758	.	.	ENSG00000143126	ENST00000271332	T	0.01665	4.7	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01661	0.0053	N	0.04636	-0.2	0.42210	D	0.991801	D	0.69078	0.997	D	0.75484	0.986	T	0.79317	-0.1853	9	0.26408	T	0.33	.	18.1629	0.89716	0.0:0.0:1.0:0.0	.	473	Q9HCU4	CELR2_HUMAN	L	473	ENSP00000271332:R473L	ENSP00000271332:R473L	R	+	2	0	CELSR2	109595642	1.000000	0.71417	0.014000	0.15608	0.340000	0.28889	9.601000	0.98297	2.543000	0.85770	0.555000	0.69702	CGG		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	236	6	236	---	---	---	---	T	109794119	G	T	109794119	3	4	128	1	0	0	0	0	1	0	0	0	3222	1116	39	1	1420	1	CELSR2	1	109794119	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	8314787	109794119	139456502	7	5645										
ANKRD35	148741	broad.mit.edu	37	chr1	145561888	145561888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggagccctggggactcccCgtgctgaggcagcagcagct	16	13	0	1	rs375339912		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.chr1:145561888C>A	ENST00000355594.4	+	10	1663	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	526										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)					GGGGACTCCCCGTGCTGAGGC	0.622																																					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.(1576-1578)Cgt>Agt		ankyrin repeat domain 35							65	80	75					1																	145561888		2199	4300	6499	SO:0001583	missense	148741							g.chr1:145561888C>A	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.1576C>A	1.37:g.145561888C>A	ENSP00000347802:p.Arg526Ser		Somatic					p.R526S	NM_144698.3	NP_653299.4	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			10	1663	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		526					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1576C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.467348	0.26335	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.69435	-0.4	5.24	1.02	0.19986	.	0.760419	0.10968	N	0.614237	T	0.36386	0.0965	M	0.63428	1.95	0.19300	N	0.999972	P	0.35684	0.515	B	0.33846	0.171	T	0.17289	-1.0374	10	0.21014	T	0.42	-8.3765	6.467	0.21987	0.4788:0.4353:0.0:0.0859	.	526	Q8N283	ANR35_HUMAN	S	435;526	ENSP00000347802:R526S	ENSP00000347802:R526S	R	+	1	0	ANKRD35	144273245	0.000000	0.05858	0.262000	0.24481	0.580000	0.36256	0.059000	0.14322	0.026000	0.15269	-0.119000	0.15052	CGT		0.622	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		5	186	5	186	---	---	---	---	A	145561888	C	A	145561888	3	1	128	1	0	0	0	0	1	0	0	0	664	652	23	1	1614	1	ANKRD35	1	145561888	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	35767769	145561888	103688733	8	5646										
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacggccgtctggatctcgcGggatgtgatggtggagcgct	17	10	2	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.chr1:149783602G>T	ENST00000369167.1	-	1	312	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(277-279)Cgc>Agc		histone cluster 2, H2bf							27	26	26					1																	149783602		2203	4277	6480	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783602G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.277C>A	1.37:g.149783602G>T	ENSP00000358164:p.Arg93Ser		Somatic				HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S	p.R93S			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	323	-	Breast(34;0.0124)|all_hematologic(923;0.127)		93					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.277C>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927385	0.52759	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.52057	0.68;0.68;0.68	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.56097	D	0.000040	T	0.76877	0.4049	H	0.98629	4.285	0.39265	D	0.964282	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.995;0.988;0.946	D	0.86259	0.1654	10	0.87932	D	0	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	93;93;93	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	S	93	ENSP00000445831:R93S;ENSP00000407461:R93S;ENSP00000358164:R93S	ENSP00000358164:R93S	R	-	1	0	HIST2H2BF	148050226	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	3.331000	0.52075	2.287000	0.76781	0.195000	0.17529	CGC		0.647	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		6	68	6	68	---	---	---	---	T	149783602	G	T	149783602	3	4	128	1	0	0	0	0	1	0	0	0	7180	1116	39	1	524	1	HIST2H2BF	1	149783602	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	4221714	149783602	99467019	9	5647										
MTX1	4580	broad.mit.edu	37	chr1	155181949	155181949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgattatgatctgtcagctcGgcaaggggcagacaccctgg	13	10	2	3	rs139091255		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.chr1:155181949G>T	ENST00000368376.3	+	4	816	c.710G>T	c.(709-711)cGg>cTg	p.R237L	MTX1_ENST00000495589.1_3'UTR|GBAP1_ENST00000486869.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000609421.1_Missense_Mutation_p.R88L|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	237					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)				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)			CTGTCAGCTCGGCAAGGGGCA	0.577																																						ENST00000368376.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(709-711)cGg>cTg		metaxin 1							81	72	75					1																	155181949		2203	4300	6503	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155181949G>T		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.710G>T	1.37:g.155181949G>T	ENSP00000357360:p.Arg237Leu		Somatic				RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000495589.1_3'UTR|MTX1_ENST00000609421.1_Missense_Mutation_p.R88L	p.R237L	NM_002455.3	NP_002446.2	WXS	Illumina GAIIx	Phase_I	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)		4	816	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		237					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.710G>T	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	.	16.35	3.098498	0.56183	.	.	ENSG00000173171	ENST00000368376	T	0.31510	1.49	4.8	4.8	0.61643	.	0.062453	0.64402	D	0.000005	T	0.18130	0.0435	L	0.44542	1.39	0.80722	D	1	D	0.54207	0.965	P	0.46479	0.518	T	0.02075	-1.1218	10	0.45353	T	0.12	-13.4447	9.0666	0.36467	0.1014:0.0:0.8986:0.0	.	237	Q13505	MTX1_HUMAN	L	237	ENSP00000357360:R237L	ENSP00000357360:R237L	R	+	2	0	MTX1	153448573	0.018000	0.18449	0.984000	0.44739	0.984000	0.73092	0.494000	0.22467	2.195000	0.70347	0.563000	0.77884	CGG		0.577	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		4	63	4	63	---	---	---	---	T	155181949	G	T	155181949	3	4	128	1	0	0	0	0	1	0	0	0	9967	1116	39	1	724	1	MTX1	1	155181949	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	5398347	155181949	94068672	10	5648										
ADCY10	55811	broad.mit.edu	37	chr1	167802321	167802321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaggagattaagttgtaaGgaaagattcggttgaggagc	14	3	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.chr1:167802321G>T	ENST00000367851.4	-	25	3681	c.3497C>A	c.(3496-3498)cCt>cAt	p.P1166H	ADCY10_ENST00000367848.1_Missense_Mutation_p.P1074H|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1166					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						TAAGTTGTAAGGAAAGATTCG	0.473																																						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.(3220-3222)cCt>cAt		adenylate cyclase 10 (soluble)							270	277	275					1																	167802321		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802321G>T	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.3497C>A	1.37:g.167802321G>T	ENSP00000356825:p.Pro1166His		Somatic				ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H|ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166H	p.P1074H			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			25	3718	-			1166					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3221C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856079	0.91355	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.59224	0.28;0.32;0.3	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000006	T	0.71039	0.3293	M	0.75264	2.295	0.33921	D	0.640933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74711	-0.3573	9	0.87932	D	0	-19.4737	15.2075	0.73190	0.0:0.0:1.0:0.0	.	1074;1166	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	H	1013;67;1166;1074	ENSP00000441992:P1013H;ENSP00000356825:P1166H;ENSP00000356822:P1074H	ENSP00000271426:P67H	P	-	2	0	ADCY10	166068945	0.998000	0.40836	0.250000	0.24296	0.743000	0.42351	4.720000	0.61944	2.739000	0.93911	0.643000	0.83706	CCT		0.473	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	352	8	352	---	---	---	---	T	167802321	G	T	167802321	3	4	128	1	0	0	0	0	1	0	0	0	293	1000	35	1	1371	1	ADCY10	1	167802321	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	12620372	167802321	81448300	11	5649										
ASTN1	460	broad.mit.edu	37	chr1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcagttgctggtctaaacCacgagcaaagttgttttgcc	11	9	1	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.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR	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																																						ENST00000367654.3																			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		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S	p.G765S	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			14	2504	-								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	17	59	---	---	---	---	T	176913135	C	T	176913135	3	4	128	1	0	0	0	0	1	0	0	0	1064	594	21	2	1659	2	ASTN1	1	176913135	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	9110814	176913135	72337486	12	5650										
ASTN1	460	broad.mit.edu	37	chr1	177030392	177030392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagggatatcctctgtgttcCctgagatctctagaagatga	10	8	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.chr1:177030392C>A	ENST00000367654.3	-	2	504	c.293G>T	c.(292-294)gGg>gTg	p.G98V	ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	98					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						CTCTGTGTTCCCTGAGATCTC	0.483																																						ENST00000367654.3																			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.(292-294)gGg>gTg		astrotactin 1							127	120	123					1																	177030392		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030392C>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.293G>T	1.37:g.177030392C>A	ENSP00000356626:p.Gly98Val		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V	p.G98V	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			2	504	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.293G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.062764	0.76187	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.35605	1.3;1.7;1.69;1.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	L	0.52573	1.65	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	0.56056	-0.8042	10	0.87932	D	0	-22.0861	20.2159	0.98296	0.0:1.0:0.0:0.0	.	98;98;98	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	98	ENSP00000356629:G98V;ENSP00000354536:G98V;ENSP00000356626:G98V;ENSP00000395041:G98V	ENSP00000354536:G98V	G	-	2	0	ASTN1	175297015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	2.882000	0.98803	0.655000	0.94253	GGG		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	126	6	126	---	---	---	---	A	177030392	C	A	177030392	3	1	128	1	0	0	0	0	1	0	0	0	1064	623	22	1	3683	1	ASTN1	1	177030392	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	117257	177030392	72220229	13	5651										
RASAL2	9462	broad.mit.edu	37	chr1	178425884	178425884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaaaattggggcctctccCtcgtgttcttgctgatatta	10	10	2	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.chr1:178425884C>A	ENST00000462775.1	+	11	1942	c.1817C>A	c.(1816-1818)cCt>cAt	p.P606H	RASAL2_ENST00000448150.3_Missense_Mutation_p.P736H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					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						GGGCCTCTCCCTCGTGTTCTT	0.448																																						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.(2206-2208)cCt>cAt		RAS protein activator like 2							222	231	228					1																	178425884		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.chr1:178425884C>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.1817C>A	1.37:g.178425884C>A	ENSP00000420558:p.Pro606His		Somatic				RASAL2_ENST00000462775.1_Missense_Mutation_p.P606H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H	p.P736H	NM_170692.2	NP_733793.2	WXS	Illumina GAIIx	Phase_I	Q9UJF2	NGAP_HUMAN			13	3025	+			606					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2207C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991396	0.74703	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.32753	1.44;2.23;1.5	5.16	5.16	0.70880	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.059645	0.64402	D	0.000002	T	0.62011	0.2393	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.995;0.935;0.999	T	0.67624	-0.5623	10	0.56958	D	0.05	.	18.6466	0.91413	0.0:1.0:0.0:0.0	.	736;606;747	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	H	736;747;606	ENSP00000407768:P736H;ENSP00000356621:P747H;ENSP00000420558:P606H	ENSP00000356621:P747H	P	+	2	0	RASAL2	176692507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.381000	0.81170	0.655000	0.94253	CCT		0.448	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	305	8	305	---	---	---	---	A	178425884	C	A	178425884	3	1	128	1	0	0	0	0	1	0	0	0	13064	681	24	1	2328	1	RASAL2	1	178425884	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1395492	178425884	70824737	14	5652										
KCNT2	343450	broad.mit.edu	37	chr1	196254844	196254844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accctcccagcagcaaaaggCagtcgaaacataaaggccaa	8	13	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.chr1:196254844C>T	ENST00000294725.9	-	23	3555	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_ENST00000367433.5_Silent_p.L856L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_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			Somatic				KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000294725.9_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	p.L856L	NM_198503.2	NP_940905.2	WXS	Illumina GAIIx	Phase_I	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	15	44	---	---	---	---	T	196254844	C	T	196254844	2	4	128	1	0	0	0	0	0	0	0	1	8092	697	25	2		2	KCNT2	1	196254844	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	17828960	196254844	52995777	15	5653										
G0S2	50486	broad.mit.edu	37	chr1	209849324	209849324	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggccgggccctgtccaacCggcagcacgcctcctaggaa	13	17	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.chr1:209849324C>A	ENST00000367029.4	+	2	457	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	99					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662																																						ENST00000367029.4																			0				large_intestine(2)	2						c.(295-297)Cgg>Agg		G0/G1switch 2							14	17	16					1																	209849324		2116	4191	6307	SO:0001819	synonymous_variant	50486				cell cycle			g.chr1:209849324C>A		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"putative lymphocyte G0/G1 switch gene"	614447	"G0/G1switch 2"			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.295C>A	1.37:g.209849324C>A			Somatic				RP1-28O10.1_ENST00000441672.1_RNA	p.R99R	NM_015714.3	NP_056529.1	WXS	Illumina GAIIx	Phase_I	P27469	G0S2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.041)	2	457	+			99					Q6FGC8	Silent	SNP	ENST00000367029.4	37	c.295C>A	CCDS1488.1																																																																																				0.662	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		4	49	4	49	---	---	---	---	A	209849324	C	A	209849324	2	1	128	1	0	0	0	0	0	0	0	1	6139	643	23	1		1	G0S2	1	209849324	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	13594480	209849324	39401297	16	5654										
HHAT	55733	broad.mit.edu	37	chr1	210796981	210796981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttgggggcaatgaggttGggaaaacctactggaatagg	15	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.chr1:210796981G>T	ENST00000367010.1	+	11	1584	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	HHAT_ENST00000541565.1_Missense_Mutation_p.G316W|HHAT_ENST00000308852.6_Missense_Mutation_p.G408W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000413764.2_Missense_Mutation_p.G453W	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	453	GTP-binding. {ECO:0000305}.				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)		CAATGAGGTTGGGAAAACCTA	0.488																																						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.(1357-1359)Ggg>Tgg		hedgehog acyltransferase							283	269	274					1																	210796981		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796981G>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.1357G>T	1.37:g.210796981G>T	ENSP00000355977:p.Gly453Trp		Somatic				HHAT_ENST00000413764.2_Missense_Mutation_p.G453W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000541565.1_Missense_Mutation_p.G316W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000308852.6_Missense_Mutation_p.G408W	p.G453W	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	1584	+			453			GTP-binding (Probable).		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1357G>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383211	0.82792	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.53423	1.84;0.62;1.85;1.95;1.89;1.91;1.84;1.89;1.84;0.71	6.16	6.16	0.99307	.	0.174797	0.49916	D	0.000131	T	0.66954	0.2842	L	0.58101	1.795	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;0.998;0.999;0.999	T	0.65413	-0.6174	10	0.62326	D	0.03	-26.4846	17.7766	0.88510	0.0:0.0:1.0:0.0	.	408;454;316;388;453	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	W	453;316;454;388;453;390;453;408;453;143	ENSP00000416845:G453W;ENSP00000444995:G316W;ENSP00000438468:G454W;ENSP00000442625:G388W;ENSP00000375773:G453W;ENSP00000439229:G390W;ENSP00000261458:G453W;ENSP00000308628:G408W;ENSP00000355977:G453W;ENSP00000355976:G143W	ENSP00000261458:G453W	G	+	1	0	HHAT	208863604	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.964000	0.76061	2.937000	0.99478	0.650000	0.86243	GGG		0.488	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		8	275	8	275	---	---	---	---	T	210796981	G	T	210796981	3	4	128	1	0	0	0	0	1	0	0	0	7089	1348	47	1	1493	1	HHAT	1	210796981	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	947657	210796981	38453640	17	5655										
COG2	22796	broad.mit.edu	37	chr1	230824182	230824182	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagcagccctggaggactcCcagagctctttttcagcctg	10	14	2	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.chr1:230824182C>A	ENST00000366669.4	+	15	1783	c.1668C>A	c.(1666-1668)tcC>tcA	p.S556S	COG2_ENST00000534989.1_Silent_p.S497S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000546013.1_Silent_p.S245S	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	556					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)				TGGAGGACTCCCAGAGCTCTT	0.458																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1489-1491)tcC>tcA		component of oligomeric golgi complex 2							92	93	93					1																	230824182		2203	4300	6503	SO:0001819	synonymous_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.chr1:230824182C>A	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.1668C>A	1.37:g.230824182C>A			Somatic				COG2_ENST00000366669.4_Silent_p.S556S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000546013.1_Silent_p.S245S	p.S497S			WXS	Illumina GAIIx	Phase_I	Q14746	COG2_HUMAN			15	1826	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	556					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1491C>A	CCDS1584.1																																																																																				0.458	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		5	86	5	86	---	---	---	---	A	230824182	C	A	230824182	2	1	128	1	0	0	0	0	0	0	0	1	3658	610	22	1		1	COG2	1	230824182	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20027201	230824182	18426439	18	5656										
OR2AK2	391191	broad.mit.edu	37	chr1	248128879	248128879	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctgctcagtcagctctcCatcgttgacctcatgtacat	6	13	5	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.chr1:248128879C>A	ENST00000366480.3	+	1	345	c.246C>A	c.(244-246)tcC>tcA	p.S82S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	82						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)			GTCAGCTCTCCATCGTTGACC	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.(244-246)tcC>tcA		olfactory receptor, family 2, subfamily AK, member 2							195	173	181					1																	248128879		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128879C>A	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.246C>A	1.37:g.248128879C>A			Somatic				OR2L13_ENST00000366478.2_Intron	p.S82S	NM_001004491.1	NP_001004491.1	WXS	Illumina GAIIx	Phase_I	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	345	+	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)		82					B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.246C>A	CCDS31102.1																																																																																				0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		6	161	6	161	---	---	---	---	A	248128879	C	A	248128879	2	1	128	1	0	0	0	0	0	0	0	1	10986	581	21	1		1	OR2AK2	1	248128879	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	17304697	248128879	1121742	19	5657										
PGBD2	267002	broad.mit.edu	37	chr1	249212551	249212551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaatgcttcagggagtacCacatccggtgacatcatgag	10	11	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.chr1:249212551C>A	ENST00000329291.5	+	3	1915	c.1768C>A	c.(1768-1770)Cac>Aac	p.H590N	PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N|PGBD2_ENST00000355360.4_Missense_Mutation_p.H339N	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	590										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)			CAGGGAGTACCACATCCGGTG	0.478																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1015-1017)Cac>Aac		piggyBac transposable element derived 2							113	116	115					1																	249212551		2202	4299	6501	SO:0001583	missense	267002							g.chr1:249212551C>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.1768C>A	1.37:g.249212551C>A	ENSP00000331643:p.His590Asn		Somatic				PGBD2_ENST00000329291.5_Missense_Mutation_p.H590N|PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N	p.H339N	NM_001017434.1	NP_001017434.1	WXS	Illumina GAIIx	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1285	+	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)	590					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1015C>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892202	0.33442	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.45668	1.07;0.89;0.9	3.22	3.22	0.36961	.	0.000000	0.49916	D	0.000135	T	0.55273	0.1910	L	0.54323	1.7	0.29822	N	0.830767	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.956	T	0.52939	-0.8508	10	0.87932	D	0	.	10.1894	0.43017	0.0:1.0:0.0:0.0	.	587;590	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	N	339;590;587	ENSP00000355424:H339N;ENSP00000331643:H590N;ENSP00000439950:H587N	ENSP00000331643:H590N	H	+	1	0	PGBD2	247179174	1.000000	0.71417	0.996000	0.52242	0.314000	0.28054	3.079000	0.50104	2.086000	0.62901	0.591000	0.81541	CAC		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	104	7	104	---	---	---	---	A	249212551	C	A	249212551	3	1	128	1	0	0	0	0	1	0	0	0	11781	594	21	1	1774	1	PGBD2	1	249212551	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1083672	249212551	38070	20	5658										
DYSF	8291	broad.mit.edu	37	chr2	71816722	71816722	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaccagcttcgtgtctccaGggcggcgtgatggatgacaa	13	10	1	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.chr2:71816722G>T	ENST00000258104.3	+	31	3625		c.e31-1		DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						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						CGTGTCTCCAGGGCGGCGTGA	0.562																																						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.e31-1		dysferlin							192	161	172					2																	71816722		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71816722G>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.3349-1G>T	2.37:g.71816722G>T			Somatic				DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site		NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			31	3625	+								A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37		CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361508	0.24684	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0164	0.64527	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71670230	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.968000	0.87980	2.436000	0.82500	0.561000	0.74099	.		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	6	126	6	126	---	---	---	---	T	71816722	G	T	71816722	5	4	128	1	0	0	0	0	0	0	1	0	4859	1014	35	1	3662	1	DYSF	2	71816722	Splice_Site	SNP	G	TCGA-G9-6342-01A-11D-1961-08		71816722	171382651	21	5659										
SUCLG1	8802	broad.mit.edu	37	chr2	84670410	84670410	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggtaccactaattacctCcttcacagtattaaagacag	5	11	2	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.chr2:84670410C>A	ENST00000393868.2	-	3	526	c.316G>T	c.(316-318)Gag>Tag	p.E106*		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	106					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)	CTAATTACCTCCTTCACAGTA	0.453																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(316-318)Gag>Tag		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						119	117	118					2																	84670410		2203	4300	6503	SO:0001587	stop_gained	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84670410C>A	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.316G>T	2.37:g.84670410C>A	ENSP00000377446:p.Glu106*		Somatic					p.E106*	NM_003849.3	NP_003840.2	WXS	Illumina GAIIx	Phase_I	P53597	SUCA_HUMAN			3	526	-			106					Q9BWB0|Q9UNP6	Nonsense_Mutation	SNP	ENST00000393868.2	37	c.316G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	38	6.800485	0.97849	.	.	ENSG00000163541	ENST00000393868	.	.	.	5.9	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4728	12.7756	0.57445	0.0:0.9208:0.0:0.0792	.	.	.	.	X	106	.	ENSP00000377446:E106X	E	-	1	0	SUCLG1	84523921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	1.506000	0.48736	0.650000	0.86243	GAG		0.453	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		7	152	7	152	---	---	---	---	A	84670410	C	A	84670410	4	1	128	1	0	0	0	0	0	1	0	0	15363	864	30	3	752	3	SUCLG1	2	84670410	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	12853688	84670410	158528963	22	5660										
SLC9A2	6549	broad.mit.edu	37	chr2	103274259	103274259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttctggtatgctgtggtaGggacactttggaattccatt	11	6	1	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.chr2:103274259G>T	ENST00000233969.2	+	2	668	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	176					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						TGCTGTGGTAGGGACACTTTG	0.512																																						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.(526-528)Ggg>Tgg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							323	306	312					2																	103274259		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274259G>T		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.526G>T	2.37:g.103274259G>T	ENSP00000233969:p.Gly176Trp		Somatic					p.G176W	NM_003048.3	NP_003039.2	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			2	668	+			176					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.526G>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755251	0.89843	.	.	ENSG00000115616	ENST00000233969	T	0.19938	2.11	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77686	-0.2495	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	176	Q9UBY0	SL9A2_HUMAN	W	176	ENSP00000233969:G176W	ENSP00000233969:G176W	G	+	1	0	SLC9A2	102640691	1.000000	0.71417	0.830000	0.32933	0.915000	0.54546	9.860000	0.99555	2.808000	0.96608	0.655000	0.94253	GGG		0.512	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			9	334	9	334	---	---	---	---	T	103274259	G	T	103274259	3	4	128	1	0	0	0	0	1	0	0	0	14712	1000	35	1	532	1	SLC9A2	2	103274259	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	18603849	103274259	139925114	23	5661										
LRP2	4036	broad.mit.edu	37	chr2	170139490	170139490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttctggtcacaaattcccCatatctggcaatcatcaaac	4	13	5	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.chr2:170139490C>A	ENST00000263816.3	-	10	1349	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	LRP2_ENST00000443831.1_Missense_Mutation_p.W355L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	355	EGF-like 2. {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)"	ACAAATTCCCCATATCTGGCA	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.(1063-1065)tGg>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)						144	143	143					2																	170139490		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.chr2:170139490C>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.1064G>T	2.37:g.170139490C>A	ENSP00000263816:p.Trp355Leu		Somatic				LRP2_ENST00000443831.1_Missense_Mutation_p.W355L	p.W355L	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	10	1349	-			355			EGF-like 2.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1064G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111894	0.94339	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94232	-2.52;-3.38	5.36	5.36	0.76844	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.93515	0.6856	9	.	.	.	.	19.1006	0.93272	0.0:1.0:0.0:0.0	.	355;355	E9PC35;P98164	.;LRP2_HUMAN	L	355	ENSP00000263816:W355L;ENSP00000409813:W355L	.	W	-	2	0	LRP2	169847736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.532000	0.81985	2.514000	0.84764	0.655000	0.94253	TGG		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	184	6	184	---	---	---	---	A	170139490	C	A	170139490	3	1	128	1	0	0	0	0	1	0	0	0	8956	595	21	1	13183	1	LRP2	2	170139490	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	66865231	170139490	73059883	24	5662										
DNAH7	56171	broad.mit.edu	37	chr2	196729546	196729546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgtagttggtatcctccCtcttgggatcatggaaatca	9	10	4	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.chr2:196729546C>A	ENST00000312428.6	-	41	6933	c.6833G>T	c.(6832-6834)aGg>aTg	p.R2278M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2278					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						GGTATCCTCCCTCTTGGGATC	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.(6832-6834)aGg>aTg		dynein, axonemal, heavy chain 7							192	179	183					2																	196729546		1894	4125	6019	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729546C>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.6833G>T	2.37:g.196729546C>A	ENSP00000311273:p.Arg2278Met		Somatic					p.R2278M	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			41	6933	-			2278					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6833G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586193	0.28268	.	.	ENSG00000118997	ENST00000312428	T	0.21932	1.98	5.09	3.3	0.37823	.	0.164928	0.52532	D	0.000067	T	0.24470	0.0593	L	0.57536	1.79	0.80722	D	1	B	0.26400	0.148	B	0.33392	0.163	T	0.05566	-1.0877	10	0.62326	D	0.03	.	10.9123	0.47116	0.0:0.847:0.0:0.153	.	2278	Q8WXX0	DYH7_HUMAN	M	2278	ENSP00000311273:R2278M	ENSP00000311273:R2278M	R	-	2	0	DNAH7	196437791	0.559000	0.26562	0.997000	0.53966	0.603000	0.37013	1.482000	0.35486	0.742000	0.32697	0.460000	0.39030	AGG		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	179	7	179	---	---	---	---	A	196729546	C	A	196729546	3	1	128	1	0	0	0	0	1	0	0	0	4606	681	24	1	5341	1	DNAH7	2	196729546	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	26590056	196729546	46469827	25	5663										
IGFBP5	3488	broad.mit.edu	37	chr2	217541551	217541551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgcctggcagcttcatccCgtacttgtccacgcaccagc	8	17	1	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.chr2:217541551C>A	ENST00000233813.4	-	4	1491	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	248	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTCATCCCGTACTTGTCC	0.617																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(742-744)Ggg>Tgg		insulin-like growth factor binding protein 5							206	166	180					2																	217541551		2203	4300	6503	SO:0001583	missense	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541551C>A		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.742G>T	2.37:g.217541551C>A	ENSP00000233813:p.Gly248Trp		Somatic					p.G248W	NM_000599.3	NP_000590.1	WXS	Illumina GAIIx	Phase_I	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1491	-		Renal(323;0.0822)	248			Thyroglobulin type-1.		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	c.742G>T	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380338	0.82682	.	.	ENSG00000115461	ENST00000233813	D	0.93547	-3.24	4.78	4.78	0.61160	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99342	1.0912	10	0.87932	D	0	-3.7888	16.5399	0.84382	0.0:1.0:0.0:0.0	.	248	P24593	IBP5_HUMAN	W	248	ENSP00000233813:G248W	ENSP00000233813:G248W	G	-	1	0	IGFBP5	217249796	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	7.118000	0.77137	2.488000	0.83962	0.563000	0.77884	GGG		0.617	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		7	168	7	168	---	---	---	---	A	217541551	C	A	217541551	3	1	128	1	0	0	0	0	1	0	0	0	7582	652	23	1	80	1	IGFBP5	2	217541551	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20812005	217541551	25657822	26	5664										
SERPINE2	5270	broad.mit.edu	37	chr2	224849668	224849668	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgggggcacttgtcgaccCtaaagaaatcagaagcaggt	12	8	1	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.chr2:224849668C>A	ENST00000258405.4	-	5	928		c.e5-1		SERPINE2_ENST00000409840.3_Splice_Site|SERPINE2_ENST00000447280.2_Splice_Site|SERPINE2_ENST00000409304.1_Splice_Site	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						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)		CTTGTCGACCCTAAAGAAATC	0.493																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.e6-1		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							98	102	100					2																	224849668		2203	4300	6503	SO:0001630	splice_region_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.chr2:224849668C>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.686-1G>T	2.37:g.224849668C>A			Somatic				SERPINE2_ENST00000447280.2_Splice_Site|SERPINE2_ENST00000258405.4_Splice_Site|SERPINE2_ENST00000409304.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	1346	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)						B2R6A4|B4DIF2|Q53S15|Q5D0C4	Splice_Site	SNP	ENST00000258405.4	37		CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707312	0.68615	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	.	.	.	5.97	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0507	0.71867	0.0:0.9323:0.0:0.0677	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINE2	224557912	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.202000	0.77856	1.543000	0.49345	0.655000	0.94253	.		0.493	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	Intron	5	47	5	47	---	---	---	---	A	224849668	C	A	224849668	5	1	128	1	0	0	0	0	0	0	1	0	14112	695	24	1	531	1	SERPINE2	2	224849668	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7308117	224849668	18349705	27	5665										
AGAP1	116987	broad.mit.edu	37	chr2	236792052	236792052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaaaagaaatatgtcaccCtgtgtgacaatggcgtgctg	12	7	1	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.chr2:236792052C>A	ENST00000304032.8	+	10	1694	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATGTCACCCTGTGTGACAA	0.443																																						ENST00000304032.8																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1114-1116)Ctg>Atg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							133	118	123					2																	236792052		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236792052C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1114C>A	2.37:g.236792052C>A	ENSP00000307634:p.Leu372Met		Somatic				AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M	p.L372M	NM_001037131.2	NP_001032208.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ3	AGAP1_HUMAN			10	1694	+						PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1114C>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108580|4.108580	0.77096|0.77096	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025	T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29|.	5.3|5.3	4.43|4.43	0.53597|0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.74566|0.74566	0.3733|0.3733	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.996|.	T|T	0.76302|0.76302	-0.3009|-0.3009	10|5	0.87932|.	D|.	0|.	.|.	9.4483|9.4483	0.38710|0.38710	0.0:0.8365:0.0:0.1635|0.0:0.8365:0.0:0.1635	.|.	372;372|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	372;372;637;211|5	ENSP00000307634:L372M;ENSP00000338378:L372M;ENSP00000386897:L637M;ENSP00000411824:L211M|.	ENSP00000307634:L372M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236456791|236456791	0.921000|0.921000	0.31238|0.31238	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.753000|1.753000	0.38359|0.38359	1.387000|1.387000	0.46486|0.46486	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.443	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		6	101	6	101	---	---	---	---	A	236792052	C	A	236792052	3	1	128	1	0	0	0	0	1	0	0	0	366	680	24	1	1152	1	AGAP1	2	236792052	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	11942384	236792052	6407321	28	5666										
COL6A3	1293	broad.mit.edu	37	chr2	238274668	238274668	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaaaccccagaatcacatcCagattacaagctggaaagga	7	11	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.chr2:238274668C>A	ENST00000295550.4	-	12	5963	c.5511G>T	c.(5509-5511)ctG>ctT	p.L1837L	COL6A3_ENST00000347401.3_Silent_p.L1636L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000409809.1_Silent_p.L1631L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1837	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)		GAATCACATCCAGATTACAAG	0.502																																						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.(5509-5511)ctG>ctT		collagen, type VI, alpha 3							46	47	47					2																	238274668		2187	4281	6468	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274668C>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.5511G>T	2.37:g.238274668C>A			Somatic				COL6A3_ENST00000409809.1_Silent_p.L1631L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000347401.3_Silent_p.L1636L	p.L1837L	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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	5963	-		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)	1837			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5511G>T	CCDS33412.1																																																																																				0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	108	6	108	---	---	---	---	A	238274668	C	A	238274668	2	1	128	1	0	0	0	0	0	0	0	1	3701	581	21	1		1	COL6A3	2	238274668	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1482616	238274668	4924705	29	5667										
SRGAP3	9901	broad.mit.edu	37	chr3	9036052	9036052	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtacaactatgtactgatGggggatgagtccatccacgc	11	10	0	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.chr3:9036052G>T	ENST00000383836.3	-	19	2810	c.2383C>A	c.(2383-2385)Cat>Aat	p.H795N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	795					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)		ATGTACTGATGGGGGATGAGT	0.562			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.(2383-2385)Cat>Aat		SLIT-ROBO Rho GTPase activating protein 3							94	93	93					3																	9036052		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.chr3:9036052G>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.2383C>A	3.37:g.9036052G>T	ENSP00000373347:p.His795Asn		Somatic				SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N	p.H795N	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2810	-			795					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2383C>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581903	0.86748	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	L	0.52126	1.63	0.80722	D	1	P;D	0.53312	0.908;0.959	P;D	0.65010	0.888;0.931	T	0.61569	-0.7036	10	0.44086	T	0.13	.	18.1538	0.89686	0.0:0.0:1.0:0.0	.	771;795	O43295-2;O43295	.;SRGP2_HUMAN	N	795;771	ENSP00000373347:H795N;ENSP00000353587:H771N	ENSP00000353587:H771N	H	-	1	0	SRGAP3	9011052	1.000000	0.71417	0.770000	0.31555	0.885000	0.51271	9.727000	0.98787	2.438000	0.82558	0.655000	0.94253	CAT		0.562	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			5	95	5	95	---	---	---	---	T	9036052	G	T	9036052	3	4	128	1	0	0	0	0	1	0	0	0	15146	1348	47	1	932	1	SRGAP3	3	9036052	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		9036052	188986378	30	5668										
SETD5	55209	broad.mit.edu	37	chr3	9512274	9512274	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcatccctccctcggaccCacttctgagactggtttccc	6	19	2	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.chr3:9512274C>A	ENST00000406341.1	+	18	3046	c.2856C>A	c.(2854-2856)ccC>ccA	p.P952P	SETD5_ENST00000402198.1_Silent_p.P952P|SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000407969.1_Silent_p.P971P|SETD5_ENST00000402466.1_Silent_p.P854P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	952										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)		CCCTCGGACCCACTTCTGAGA	0.502																																						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.(2560-2562)ccC>ccA		SET domain containing 5							173	161	165					3																	9512274		1903	4135	6038	SO:0001819	synonymous_variant	55209							g.chr3:9512274C>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.2856C>A	3.37:g.9512274C>A			Somatic				SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000407969.1_Silent_p.P971P|SETD5_ENST00000406341.1_Silent_p.P952P|SETD5_ENST00000402198.1_Silent_p.P952P	p.P854P			WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3330	+	Medulloblastoma(99;0.227)		952					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2562C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101790	0.08731	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.09	3.29	0.37713	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-4.9478	5.3683	0.16125	0.0:0.6225:0.0:0.3775	.	.	.	.	N	620;283	.	.	H	+	1	0	SETD5	9487274	0.350000	0.24878	0.521000	0.27850	0.733000	0.41908	0.398000	0.20899	1.137000	0.42214	0.585000	0.79938	CAC		0.502	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		6	148	6	148	---	---	---	---	A	9512274	C	A	9512274	2	1	128	1	0	0	0	0	0	0	0	1	14134	581	21	1		1	SETD5	3	9512274	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	476222	9512274	188510156	31	5669										
BRPF1	7862	broad.mit.edu	37	chr3	9781219	9781219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcattgagcacatcccacCagctcgctggaagctcacct	8	16	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.chr3:9781219C>A	ENST00000457855.1	+	2	1147	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	BRPF1_ENST00000383829.2_Missense_Mutation_p.P379Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	379					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)					CACATCCCACCAGCTCGCTGG	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.(1135-1137)cCa>cAa		bromodomain and PHD finger containing, 1							133	136	135					3																	9781219		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.chr3:9781219C>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.1136C>A	3.37:g.9781219C>A	ENSP00000410210:p.Pro379Gln		Somatic				BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q	p.P379Q	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	P55201	BRPF1_HUMAN			3	1540	+	Medulloblastoma(99;0.227)		379					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1136C>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527078	0.85706	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.42632	1.34	0.80722	D	1	D;P;P;D	0.76494	0.999;0.858;0.746;0.999	D;P;P;D	0.81914	0.991;0.561;0.661;0.995	T	0.71331	-0.4625	10	0.42905	T	0.14	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	379;379;379;379	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	379	ENSP00000402485:P379Q;ENSP00000398863:P379Q;ENSP00000373340:P379Q;ENSP00000306297:P379Q;ENSP00000410210:P379Q	ENSP00000306297:P379Q	P	+	2	0	BRPF1	9756219	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	CCA		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		6	168	6	168	---	---	---	---	A	9781219	C	A	9781219	3	1	128	1	0	0	0	0	1	0	0	0	1520	594	21	1	1142	1	BRPF1	3	9781219	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	268945	9781219	188241211	32	5670										
ATP2B2	491	broad.mit.edu	37	chr3	10443926	10443926	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgctccagtcattgaaggcCgtgaccaggaccacacagat	10	12	1	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.chr3:10443926C>A	ENST00000352432.4	-	3	573	c.504G>T	c.(502-504)acG>acT	p.T168T	ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T|ATP2B2_ENST00000397077.1_Silent_p.T168T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					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						CATTGAAGGCCGTGACCAGGA	0.612																																					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.(502-504)acG>acT		ATPase, Ca++ transporting, plasma membrane 2							124	134	131					3																	10443926		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.chr3:10443926C>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.504G>T	3.37:g.10443926C>A			Somatic				ATP2B2_ENST00000352432.4_Silent_p.T168T|ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T	p.T168T			WXS	Illumina GAIIx	Phase_I	Q01814	AT2B2_HUMAN			6	1079	-			168					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.504G>T	CCDS33701.1																																																																																				0.612	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	218	6	218	---	---	---	---	A	10443926	C	A	10443926	2	1	128	1	0	0	0	0	0	0	0	1	1140	639	23	1		1	ATP2B2	3	10443926	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	662707	10443926	187578504	33	5671										
RTP3	83597	broad.mit.edu	37	chr3	46539657	46539657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagacaagggccttcttccCaacgtcctgaagccaggctg	10	15	1	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.chr3:46539657C>A	ENST00000296142.3	+	1	677	c.105C>A	c.(103-105)ccC>ccA	p.P35P		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	35					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)				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)		GCCTTCTTCCCAACGTCCTGA	0.532																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(103-105)ccC>ccA		receptor (chemosensory) transporter protein 3							119	106	111					3																	46539657		2203	4300	6503	SO:0001819	synonymous_variant	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46539657C>A	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.105C>A	3.37:g.46539657C>A			Somatic					p.P35P	NM_031440.1	NP_113628.1	WXS	Illumina GAIIx	Phase_I	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	1	677	+			35					A2RRP6	Silent	SNP	ENST00000296142.3	37	c.105C>A	CCDS2740.1																																																																																				0.532	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		5	75	5	75	---	---	---	---	A	46539657	C	A	46539657	2	1	128	1	0	0	0	0	0	0	0	1	13735	581	21	1		1	RTP3	3	46539657	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	36095731	46539657	151482773	34	5672										
QARS	5859	broad.mit.edu	37	chr3	49136858	49136858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaaagagccgtgggtcatcCcagtccctgtggataagaag	13	9	1	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.chr3:49136858C>A	ENST00000306125.6	-	17	1870	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.W500C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	511					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)	GTGGGTCATCCCAGTCCCTGT	0.577																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1531-1533)tgG>tgT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						94	98	97					3																	49136858		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136858C>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.1533G>T	3.37:g.49136858C>A	ENSP00000307567:p.Trp511Cys		Somatic				QARS_ENST00000414533.1_Missense_Mutation_p.W500C	p.W511C			WXS	Illumina GAIIx	Phase_I	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	1870	-			511					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1533G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450641	0.63290	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.24538	1.85;1.85;1.85	6.06	6.06	0.98353	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85642	0.1277	10	0.87932	D	0	-12.3687	20.6244	0.99512	0.0:1.0:0.0:0.0	.	500;511	B4DWJ2;P47897	.;SYQ_HUMAN	C	31;511;500	ENSP00000396326:W31C;ENSP00000307567:W511C;ENSP00000390015:W500C	ENSP00000307567:W511C	W	-	3	0	QARS	49111862	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.264000	0.78432	2.879000	0.98667	0.650000	0.86243	TGG		0.577	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		6	94	6	94	---	---	---	---	A	49136858	C	A	49136858	3	1	128	1	0	0	0	0	1	0	0	0	12871	624	22	1	826	1	QARS	3	49136858	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2597201	49136858	148885572	35	5673										
IQCF1	132141	broad.mit.edu	37	chr3	51929026	51929026	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactggcccttgatgaacccCcgggaagcacaggagcggca	13	13	0	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.chr3:51929026C>A	ENST00000310914.5	-	4	560	c.498G>T	c.(496-498)cgG>cgT	p.R166R		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	166										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGAACCCCCGGGAAGCAC	0.587																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(496-498)cgG>cgT		IQ motif containing F1							104	101	102					3																	51929026		2203	4300	6503	SO:0001819	synonymous_variant	132141							g.chr3:51929026C>A	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.498G>T	3.37:g.51929026C>A			Somatic					p.R166R	NM_152397.2	NP_689610.2	WXS	Illumina GAIIx	Phase_I	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	560	-			166					Q8N711	Silent	SNP	ENST00000310914.5	37	c.498G>T	CCDS2836.1																																																																																				0.587	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		7	177	7	177	---	---	---	---	A	51929026	C	A	51929026	2	1	128	1	0	0	0	0	0	0	0	1	7807	610	22	1		1	IQCF1	3	51929026	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2792168	51929026	146093404	36	5674										
FLNB	2317	broad.mit.edu	37	chr3	58149009	58149009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctggacaagcggggaacCctgccctggtgtccgcctat	13	14	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.chr3:58149009C>A	ENST00000295956.4	+	43	7315	c.7150C>A	c.(7150-7152)Cct>Act	p.P2384T	FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB-AS1_ENST00000472922.1_RNA|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2384	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)		AGCGGGGAACCCTGCCCTGGT	0.587																																						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.(7150-7152)Cct>Act		filamin B, beta							83	73	77					3																	58149009		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.chr3:58149009C>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.7150C>A	3.37:g.58149009C>A	ENSP00000295956:p.Pro2384Thr		Somatic				FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T	p.P2384T	NM_001457.3	NP_001448.2	WXS	Illumina GAIIx	Phase_I	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7315	+			2384			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.7150C>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945878	0.73672	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096122	0.64402	D	0.000001	D	0.94019	0.8084	M	0.82433	2.59	0.80722	D	1	B;D;B;D;P;B	0.64830	0.023;0.986;0.017;0.994;0.494;0.07	B;D;B;D;B;B	0.74023	0.038;0.916;0.106;0.982;0.297;0.093	D	0.94463	0.7678	10	0.72032	D	0.01	.	19.2174	0.93783	0.0:1.0:0.0:0.0	.	2360;2415;2191;2204;2373;2384	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	2384;2415;2360;2373;2343;2191;2204	ENSP00000295956:P2384T;ENSP00000420213:P2415T;ENSP00000351339:P2360T;ENSP00000415599:P2373T;ENSP00000232447:P2343T;ENSP00000418510:P2191T;ENSP00000414532:P2204T	ENSP00000295956:P2384T	P	+	1	0	FLNB	58124049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.939000	0.56591	2.602000	0.87976	0.655000	0.94253	CCT		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	70	5	70	---	---	---	---	A	58149009	C	A	58149009	3	1	128	1	0	0	0	0	1	0	0	0	5934	623	22	1	7417	1	FLNB	3	58149009	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	6219983	58149009	139873421	37	5675										
DNASE1L3	1776	broad.mit.edu	37	chr3	58196539	58196539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcttcctgcttgctttccCcaaaggacctgacgttgaag	9	12	1	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.chr3:58196539C>A	ENST00000394549.2	-	1	411	c.95G>T	c.(94-96)gGg>gTg	p.G32V	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	32					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CTTGCTTTCCCCAAAGGACCT	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(94-96)gGg>gTg		deoxyribonuclease I-like 3							230	206	214					3																	58196539		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196539C>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.95G>T	3.37:g.58196539C>A	ENSP00000378053:p.Gly32Val		Somatic				DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V	p.G32V			WXS	Illumina GAIIx	Phase_I	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	3	676	-			32					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.95G>T	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425311	0.83667	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000008	D	0.82476	0.5045	M	0.93939	3.475	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	0.86384	0.1731	10	0.87932	D	0	.	17.3319	0.87267	0.0:1.0:0.0:0.0	.	32;32;32	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	V	32	ENSP00000419052:G32V;ENSP00000316193:G32V;ENSP00000417047:G32V;ENSP00000378053:G32V;ENSP00000418113:G32V;ENSP00000418509:G32V	ENSP00000316193:G32V	G	-	2	0	DNASE1L3	58171579	1.000000	0.71417	0.967000	0.41034	0.934000	0.57294	5.468000	0.66743	2.865000	0.98341	0.655000	0.94253	GGG		0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		7	219	7	219	---	---	---	---	A	58196539	C	A	58196539	3	1	128	1	0	0	0	0	1	0	0	0	4663	623	22	1	854	1	DNASE1L3	3	58196539	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	47530	58196539	139825891	38	5676										
ADAMTS9	56999	broad.mit.edu	37	chr3	64601680	64601680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccacccgtgttacattcccCtgagcatttttcacggttgc	8	14	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.chr3:64601680C>A	ENST00000498707.1	-	20	3322	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	994	TSP type-1 3. {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)		TTACATTCCCCTGAGCATTTT	0.483																																						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.(2980-2982)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							205	199	201					3																	64601680		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601680C>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.2980G>T	3.37:g.64601680C>A	ENSP00000418735:p.Gly994Trp		Somatic				ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W	p.G994W	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3322	-		Lung NSC(201;0.00682)	994			TSP type-1 3.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2980G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.322247|4.322247	0.81580|0.81580	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.61158|.	0.13;0.13|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.83953|0.83953	2.67|2.67	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;0.999;0.998;0.998|.	T|T	0.78831|0.78831	-0.2049|-0.2049	10|5	0.87932|.	D|.	0|.	.|.	14.0201|14.0201	0.64547|0.64547	0.0:0.928:0.0:0.072|0.0:0.928:0.0:0.072	.|.	966;994;994;994|.	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4|.	.;.;.;ATS9_HUMAN|.	W|H	966;994|49	ENSP00000295903:G966W;ENSP00000418735:G994W|.	ENSP00000295903:G966W|.	G|Q	-|-	1|3	0|2	ADAMTS9|ADAMTS9	64576720|64576720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	5.691000|5.691000	0.68249|0.68249	2.676000|2.676000	0.91093|0.91093	0.561000|0.561000	0.74099|0.74099	GGG|CAG		0.483	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			8	304	8	304	---	---	---	---	A	64601680	C	A	64601680	3	1	128	1	0	0	0	0	1	0	0	0	273	681	24	1	2907	1	ADAMTS9	3	64601680	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	6405141	64601680	133420750	39	5677										
NIT2	56954	broad.mit.edu	37	chr3	100059940	100059940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatccctgaagaggatgctGggaaattatataacacctgt	9	8	0	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.chr3:100059940G>T	ENST00000394140.4	+	4	362	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	91	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AGAGGATGCTGGGAAATTATA	0.373																																						ENST00000394140.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(271-273)Ggg>Tgg		nitrilase family, member 2							132	123	126					3																	100059940		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100059940G>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.271G>T	3.37:g.100059940G>T	ENSP00000377696:p.Gly91Trp		Somatic					p.G91W	NM_020202.4	NP_064587.1	WXS	Illumina GAIIx	Phase_I	Q9NQR4	NIT2_HUMAN			4	362	+						CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.271G>T	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.712516|4.712516	0.89112|0.89112	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.88354|.	-2.37|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.045173|.	0.85682|.	D|.	0.000000|.	D|D	0.88470|0.88470	0.6445|0.6445	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.78314|.	0.991;0.982|.	D|D	0.91528|0.91528	0.5240|0.5240	10|5	0.87932|.	D|.	0|.	-0.6565|-0.6565	19.7978|19.7978	0.96492|0.96492	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;91|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	W|L	91|184	ENSP00000377696:G91W|.	ENSP00000377696:G91W|.	G|W	+|+	1|2	0|0	NIT2|NIT2	101542630|101542630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.924000|8.924000	0.92827|0.92827	2.692000|2.692000	0.91855|0.91855	0.643000|0.643000	0.83706|0.83706	GGG|TGG		0.373	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		4	41	4	41	---	---	---	---	T	100059940	G	T	100059940	3	4	128	1	0	0	0	0	1	0	0	0	10434	1348	47	1	285	1	NIT2	3	100059940	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	35458260	100059940	97962490	40	5678										
ABI3BP	25890	broad.mit.edu	37	chr3	100489676	100489676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacagtgaggttggtgggtGggttctgtggtgggctggtg	21	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.chr3:100489676G>T	ENST00000284322.5	-	29	2628	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P1542Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	840	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GTTGGTGGGTGGGTTCTGTGG	0.537																																						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.(4624-4626)cCa>cAa		ABI family, member 3 (NESH) binding protein							212	225	221					3																	100489676		2019	4174	6193	SO:0001583	missense	25890					extracellular space		g.chr3:100489676G>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.2519C>A	3.37:g.100489676G>T	ENSP00000284322:p.Pro840Gln		Somatic				ABI3BP_ENST00000284322.5_Missense_Mutation_p.P840Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q	p.P1542Q			WXS	Illumina GAIIx	Phase_I	Q7Z7G0	TARSH_HUMAN			61	4734	-			840					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4625C>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.186408|5.186408	0.94885|0.94885	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.104323	.|0.64402	.|D	.|0.000002	T|T	0.80019|0.80019	0.4547|0.4547	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.993;0.917;0.997;1.0	T|T	0.80979|0.80979	-0.1140|-0.1140	5|10	.|0.72032	.|D	.|0.01	-15.5142|-15.5142	20.4366|20.4366	0.99092|0.99092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|794;840;1542;549	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	N|Q	896|1542;840;549;251;794	.|ENSP00000420524:P1542Q;ENSP00000284322:P840Q;ENSP00000373189:P794Q	.|ENSP00000284322:P840Q	H|P	-|-	1|2	0|0	ABI3BP|ABI3BP	101972366|101972366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.133000|9.133000	0.94460|0.94460	2.837000|2.837000	0.97791|0.97791	0.591000|0.591000	0.81541|0.81541	CAC|CCA		0.537	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			6	135	6	135	---	---	---	---	T	100489676	G	T	100489676	3	4	128	1	0	0	0	0	1	0	0	0	91	1348	47	1	736	1	ABI3BP	3	100489676	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	429736	100489676	97532754	41	5679										
C3orf1	51300	broad.mit.edu	37	chr3	119217641	119217641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcattgtgcctatttcccCgagtctttgctgccgaagct	10	12	1	0	rs148112033		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.chr3:119217641C>A	ENST00000494664.1	+	1	263	c.61C>A	c.(61-63)Cga>Aga	p.R21R	RP11-190C22.8_ENST00000609598.1_lincRNA|TIMMDC1_ENST00000493694.1_Silent_p.R21R	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	21						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCTATTTCCCCGAGTCTTTGC	0.587																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(61-63)Cga>Aga		translocase of inner mitochondrial membrane domain containing 1							125	134	131					3																	119217641		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217641C>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"chromosome 3 open reading frame 1"	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.61C>A	3.37:g.119217641C>A			Somatic				TIMMDC1_ENST00000493694.1_Silent_p.R21R	p.R21R	NM_016589.3	NP_057673.2	WXS	Illumina GAIIx	Phase_I	Q9NPL8	TIDC1_HUMAN			1	263	+			21					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.61C>A	CCDS33831.1																																																																																				0.587	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		7	233	7	233	---	---	---	---	A	119217641	C	A	119217641	2	1	128	1	0	0	0	0	0	0	0	1	2206	644	23	1		1	C3orf1	3	119217641	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	18727965	119217641	78804789	42	5680										
HSPBAP1	79663	broad.mit.edu	37	chr3	122459555	122459555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagttctggctacctgtttgGcccacctccatgtggttgca	10	12	1	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.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			Somatic				HSPBAP1_ENST00000383659.1_3'UTR	p.G368G	NM_024610.5	NP_078886.2	WXS	Illumina GAIIx	Phase_I	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	29	296	---	---	---	---	A	122459555	G	A	122459555	2	1	128	1	0	0	0	0	0	0	0	1	7425	1190	42	2		2	HSPBAP1	3	122459555	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3241914	122459555	75562875	43	5681										
ZNF148	7707	broad.mit.edu	37	chr3	124952115	124952115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacattcagcgcatattcCctgctgttgttacttgctgc	7	14	1	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.chr3:124952115C>A	ENST00000360647.4	-	9	1940	c.1455G>T	c.(1453-1455)agG>agT	p.R485S	ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	485					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						GCGCATATTCCCTGCTGTTGT	0.448																																						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.(1453-1455)agG>agT		zinc finger protein 148							128	128	128					3																	124952115		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.chr3:124952115C>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.1455G>T	3.37:g.124952115C>A	ENSP00000353863:p.Arg485Ser		Somatic				ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S	p.R485S	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			9	1940	-			485					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1455G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610971	0.28712	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.23	1.2	0.21068	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.53222	-0.8469	10	0.36615	T	0.2	-11.6517	9.9565	0.41671	0.0:0.6244:0.0:0.3756	.	485	Q9UQR1	ZN148_HUMAN	S	485	ENSP00000353863:R485S;ENSP00000420335:R485S;ENSP00000419322:R485S;ENSP00000420448:R485S	ENSP00000353863:R485S	R	-	3	2	ZNF148	126434805	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.466000	0.22019	0.365000	0.24400	0.655000	0.94253	AGG		0.448	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		7	172	7	172	---	---	---	---	A	124952115	C	A	124952115	3	1	128	1	0	0	0	0	1	0	0	0	17731	622	22	1	933	1	ZNF148	3	124952115	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2492560	124952115	73070315	44	5682										
MGLL	11343	broad.mit.edu	37	chr3	127540540	127540540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctggggaagacttacttgGgtgtgcctgtgggtttccag	15	7	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.chr3:127540540G>T	ENST00000434178.2	-	2	1018	c.122C>A	c.(121-123)cCc>cAc	p.P41H	MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H|MGLL_ENST00000398104.1_Missense_Mutation_p.P41H			Q99685	MGLL_HUMAN	monoglyceride lipase	41					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						GACTTACTTGGGTGTGCCTGT	0.602																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(121-123)cCc>cAc		monoglyceride lipase							76	81	79					3																	127540540		1933	4119	6052	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.chr3:127540540G>T	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.122C>A	3.37:g.127540540G>T	ENSP00000402798:p.Pro41His		Somatic				MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000398104.1_Missense_Mutation_p.P41H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H	p.P41H			WXS	Illumina GAIIx	Phase_I	Q99685	MGLL_HUMAN			2	1018	-			41					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.122C>A	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354124	0.61293	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.77877	-1.13;-1.13;-1.13;0.9	5.12	5.12	0.69794	.	0.119706	0.56097	D	0.000026	D	0.86251	0.5888	M	0.73962	2.25	0.45528	D	0.998485	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.989;0.991;0.979;0.981	D	0.87302	0.2306	10	0.72032	D	0.01	.	11.2667	0.49114	0.084:0.0:0.916:0.0	.	51;41;41;51	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	H	41;51;41;51;51;41	ENSP00000402798:P41H;ENSP00000265052:P51H;ENSP00000381176:P41H;ENSP00000417489:P41H	ENSP00000265052:P51H	P	-	2	0	MGLL	129023230	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	5.887000	0.69751	2.387000	0.81309	0.591000	0.81541	CCC		0.602	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		5	86	5	86	---	---	---	---	T	127540540	G	T	127540540	3	4	128	1	0	0	0	0	1	0	0	0	9556	1232	43	1	817	1	MGLL	3	127540540	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2588425	127540540	70481890	45	5683										
BFSP2	8419	broad.mit.edu	37	chr3	133119045	133119045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcctccctggagagccccCcagcctccaggaccaatgcc	8	20	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.chr3:133119045C>A	ENST00000302334.2	+	1	207	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	40	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						GGAGAGCCCCCCAGCCTCCAG	0.652																																						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.(118-120)Cca>Aca		beaded filament structural protein 2, phakinin							49	57	54					3																	133119045		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.chr3:133119045C>A	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.118C>A	3.37:g.133119045C>A	ENSP00000304987:p.Pro40Thr		Somatic					p.P40T	NM_003571.2	NP_003562.1	WXS	Illumina GAIIx	Phase_I	Q13515	BFSP2_HUMAN			1	207	+			40			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.118C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191604	0.38707	.	.	ENSG00000170819	ENST00000302334	D	0.82803	-1.65	5.63	3.57	0.40892	.	0.324210	0.26662	N	0.023160	T	0.70263	0.3204	L	0.57536	1.79	0.28962	N	0.889747	P	0.35077	0.483	B	0.27887	0.084	T	0.58375	-0.7647	10	0.10636	T	0.68	-10.4873	4.3247	0.11034	0.0:0.4115:0.3925:0.1961	.	40	Q13515	BFSP2_HUMAN	T	40	ENSP00000304987:P40T	ENSP00000304987:P40T	P	+	1	0	BFSP2	134601735	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.241000	0.18065	2.668000	0.90789	0.563000	0.77884	CCA		0.652	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			6	77	6	77	---	---	---	---	A	133119045	C	A	133119045	3	1	128	1	0	0	0	0	1	0	0	0	1416	623	22	1	120	1	BFSP2	3	133119045	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5578505	133119045	64903385	46	5684										
DHX36	170506	broad.mit.edu	37	chr3	154042043	154042043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcgcggcctttcaggtgccCgggatgccggcccctgccgc	14	17	1	0	rs200451346		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.chr3:154042043C>A	ENST00000496811.1	-	1	243	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W|DHX36_ENST00000308361.6_Missense_Mutation_p.G55W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	55	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.|RSM.|Sufficient and required for interaction with TERC 5'-end.				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)			TTCAGGTGCCCGGGATGCCGG	0.647																																						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.(163-165)Ggg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							59	67	64					3																	154042043		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154042043C>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.163G>T	3.37:g.154042043C>A	ENSP00000417078:p.Gly55Trp		Somatic				DHX36_ENST00000308361.6_Missense_Mutation_p.G55W|DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W	p.G55W	NM_020865.2	NP_065916.2	WXS	Illumina GAIIx	Phase_I	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	243	-			55			Gly-rich.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.163G>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707372	0.48412	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	4.66	4.66	0.58398	.	0.306795	0.31082	N	0.008291	D	0.95541	0.8551	N	0.14661	0.345	0.24942	N	0.991841	D;D;D	0.59357	0.985;0.985;0.974	P;P;P	0.54706	0.759;0.759;0.579	D	0.90535	0.4498	10	0.72032	D	0.01	.	10.8822	0.46946	0.0:0.8096:0.1904:0.0	.	55;55;55	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	W	55	ENSP00000417078:G55W;ENSP00000309296:G55W;ENSP00000444247:G55W;ENSP00000330113:G55W	ENSP00000309296:G55W	G	-	1	0	DHX36	155524737	0.010000	0.17322	0.996000	0.52242	0.654000	0.38779	0.999000	0.29757	2.404000	0.81709	0.655000	0.94253	GGG		0.647	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		6	124	6	124	---	---	---	---	A	154042043	C	A	154042043	3	1	128	1	0	0	0	0	1	0	0	0	4509	652	23	1	2963	1	DHX36	3	154042043	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20922998	154042043	43980387	47	5685										
MCF2L2	23101	broad.mit.edu	37	chr3	183059415	183059415	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatccaatgctggcagcctcCacactgcaaagaagggtggt	11	11	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.chr3:183059415C>A	ENST00000328913.3	-	4	576	c.279G>T	c.(277-279)gtG>gtT	p.V93V	MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	93	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)			TGGCAGCCTCCACACTGCAAA	0.483																																						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.(277-279)gtG>gtT		MCF.2 cell line derived transforming sequence-like 2							88	80	83					3																	183059415		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183059415C>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.279G>T	3.37:g.183059415C>A			Somatic				MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V	p.V93V	NM_015078.2	NP_055893	WXS	Illumina GAIIx	Phase_I	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)		4	576	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		93			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.279G>T	CCDS3243.1																																																																																				0.483	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	39	4	39	---	---	---	---	A	183059415	C	A	183059415	2	1	128	1	0	0	0	0	0	0	0	1	9380	581	21	1		1	MCF2L2	3	183059415	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	29017372	183059415	14963015	48	5686										
SST	6750	broad.mit.edu	37	chr3	187386923	187386923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctcggggtgccatagccGggtttgagttagcagatctc	14	9	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.chr3:187386923G>T	ENST00000287641.3	-	2	388	c.281C>A	c.(280-282)cCg>cAg	p.P94Q		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TGCCATAGCCGGGTTTGAGTT	0.488																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(280-282)cCg>cAg		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						218	212	214					3																	187386923		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386923G>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.281C>A	3.37:g.187386923G>T	ENSP00000287641:p.Pro94Gln		Somatic					p.P94Q	NM_001048.3	NP_001039.1	WXS	Illumina GAIIx	Phase_I	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	388	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		94					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.281C>A	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886472	0.72410	.	.	ENSG00000157005	ENST00000287641	T	0.34275	1.37	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64659	-0.6355	10	0.52906	T	0.07	-1.1961	18.402	0.90519	0.0:0.0:1.0:0.0	.	94	P61278	SMS_HUMAN	Q	94	ENSP00000287641:P94Q	ENSP00000287641:P94Q	P	-	2	0	SST	188869617	1.000000	0.71417	0.754000	0.31244	0.551000	0.35334	9.434000	0.97515	2.587000	0.87381	0.305000	0.20034	CCG		0.488	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		7	331	7	331	---	---	---	---	T	187386923	G	T	187386923	3	4	128	1	0	0	0	0	1	0	0	0	15195	1116	39	1	73	1	SST	3	187386923	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	4327508	187386923	10635507	49	5687										
PAK2	5062	broad.mit.edu	37	chr3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagcacctcctgtgcgaaTgagcagcaccatctttagca	8	14	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.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		Somatic					p.M18K	NM_002577.4	NP_002568.2	WXS	Illumina GAIIx	Phase_I	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	10	216	---	---	---	---	A	196509570	T	A	196509570	3	1	128	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	9122647	196509570	1512860	50	5688										
ZNF518B	85460	broad.mit.edu	37	chr4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatctgcaaagtgtggatAtatttgttgatgagtaagct	11	5	1	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.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		Somatic					p.Y745H	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	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	27	112	---	---	---	---	G	10445720	A	G	10445720	3	3	128	1	0	0	0	0	1	0	0	0	17960	449	16	2	995	2	ZNF518B	4	10445720	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		10445720	180708556	51	5689										
BOD1L	259282	broad.mit.edu	37	chr4	13616973	13616973	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtctggtttctcatcatcGggagctgtgttgccacttcc	11	11	3	0	rs370421416		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.chr4:13616973G>T	ENST00000040738.5	-	3	657	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	174						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTCATCATCGGGAGCTGTGT	0.423																																						ENST00000040738.5																			0											c.(520-522)ccC>ccA		biorientation of chromosomes in cell division 1-like 1		G		1,4405	2.1+/-5.4	0,1,2202	265	259	261		522	-10.8	0	4		261	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154		174/3052	13616973	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13616973G>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.522C>A	4.37:g.13616973G>T			Somatic					p.P174P	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			3	657	-			174					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.522C>A	CCDS3411.2																																																																																				0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	266	7	266	---	---	---	---	T	13616973	G	T	13616973	2	4	128	1	0	0	0	0	0	0	0	1	1483	1103	39	1		1	BOD1L	4	13616973	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3171253	13616973	177537303	52	5690										
SLIT2	9353	broad.mit.edu	37	chr4	20255609	20255609	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaatatcccccgcaacacCgagagactgtgagtatgcgc	11	12	0	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.chr4:20255609C>A	ENST00000504154.1	+	1	423	c.171C>A	c.(169-171)acC>acA	p.T57T	SLIT2_ENST00000503837.1_Silent_p.T57T|SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	57					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)	p.T57T(1)		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						CCCGCAACACCGAGAGACTGT	0.677																																						ENST00000504154.1																			1	Substitution - coding silent(1)	p.T57T(1)	lung(1)	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.(169-171)acC>acA		slit homolog 2 (Drosophila)							97	83	88					4																	20255609		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.chr4:20255609C>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.171C>A	4.37:g.20255609C>A			Somatic				SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T|SLIT2_ENST00000503837.1_Silent_p.T57T	p.T57T	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			1	423	+			57					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.171C>A	CCDS3426.1																																																																																				0.677	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	107	4	107	---	---	---	---	A	20255609	C	A	20255609	2	1	128	1	0	0	0	0	0	0	0	1	14740	639	23	1		1	SLIT2	4	20255609	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	6638636	20255609	170898667	53	5691										
TBC1D1	23216	broad.mit.edu	37	chr4	38119787	38119787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgtttgcctcacagttccCgctgggattcgtagccagag	11	12	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.chr4:38119787C>A	ENST00000261439.4	+	17	3291	c.2936C>A	c.(2935-2937)cCg>cAg	p.P979Q	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	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	979	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						TCACAGTTCCCGCTGGGATTC	0.527																																						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.(2935-2937)cCg>cAg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							129	126	127					4																	38119787		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38119787C>A	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.2936C>A	4.37:g.38119787C>A	ENSP00000261439:p.Pro979Gln		Somatic				TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron	p.P979Q	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	WXS	Illumina GAIIx	Phase_I	Q86TI0	TBCD1_HUMAN			17	3291	+			979			Rab-GAP TBC.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2936C>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113046	0.94339	.	.	ENSG00000065882	ENST00000261439;ENST00000454732	T	0.32272	1.46	5.7	5.7	0.88788	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000011	T	0.68430	0.3000	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76761	-0.2840	10	0.87932	D	0	-21.535	19.8471	0.96713	0.0:1.0:0.0:0.0	.	711;979	Q6PJJ8;Q86TI0	.;TBCD1_HUMAN	Q	979;243	ENSP00000261439:P979Q	ENSP00000261439:P979Q	P	+	2	0	TBC1D1	37796182	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	7.333000	0.79214	2.688000	0.91661	0.655000	0.94253	CCG		0.527	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		5	159	5	159	---	---	---	---	A	38119787	C	A	38119787	3	1	128	1	0	0	0	0	1	0	0	0	15594	652	23	1	2998	1	TBC1D1	4	38119787	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	17864178	38119787	153034489	54	5692										
NFKB1	4790	broad.mit.edu	37	chr4	103528395	103528395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggctgacgtcaatgctcaGgagcagaagtccgggcgcac	16	11	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.chr4:103528395G>T	ENST00000505458.1	+	18	2317	c.2040G>T	c.(2038-2040)caG>caT	p.Q680H	NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000226574.4_Missense_Mutation_p.Q681H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	680	Essential for interaction with HIF1AN.|Interaction with CFLAR.				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)	TCAATGCTCAGGAGCAGAAGT	0.567																																						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.(2041-2043)caG>caT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						91	89	89					4																	103528395		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.chr4:103528395G>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.2040G>T	4.37:g.103528395G>T	ENSP00000424790:p.Gln680His		Somatic				NFKB1_ENST00000505458.1_Missense_Mutation_p.Q680H|NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H	p.Q681H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	WXS	Illumina GAIIx	Phase_I	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	18	2510	+		Hepatocellular(203;0.217)	680			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2043G>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426135	0.62733	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.65732	-0.17;-0.17;-0.17	4.71	2.93	0.34026	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.70037	0.3178	L	0.56124	1.755	0.44555	D	0.997517	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.983	T	0.67639	-0.5619	10	0.59425	D	0.04	.	6.5585	0.22474	0.1583:0.1488:0.6929:0.0	.	500;680;681	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	H	681;680;680	ENSP00000226574:Q681H;ENSP00000378297:Q680H;ENSP00000424790:Q680H	ENSP00000226574:Q681H	Q	+	3	2	NFKB1	103747433	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	0.716000	0.25836	0.486000	0.27676	0.655000	0.94253	CAG		0.567	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	115	6	115	---	---	---	---	T	103528395	G	T	103528395	3	4	128	1	0	0	0	0	1	0	0	0	10375	991	35	1	2109	1	NFKB1	4	103528395	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	65408608	103528395	87625881	55	5693										
TBCK	93627	broad.mit.edu	37	chr4	107092337	107092337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgtcagaagatggctttGgaggttgagcatgctgtctg	15	6	2	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.chr4:107092337G>T	ENST00000273980.5	-	24	2597	c.2150C>A	c.(2149-2151)cCa>cAa	p.P717Q	TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q|TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q					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						AGATGGCTTTGGAGGTTGAGC	0.443																																						ENST00000273980.5																			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.(2149-2151)cCa>cAa		TBC1 domain containing kinase							148	146	146					4																	107092337		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107092337G>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.2150C>A	4.37:g.107092337G>T	ENSP00000273980:p.Pro717Gln		Somatic				TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q	p.P717Q			WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			24	2597	-									Missense_Mutation	SNP	ENST00000273980.5	37	c.2150C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120892	0.37436	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.64991	-0.08;-0.08;3.76;-0.13;-0.08	4.99	4.99	0.66335	.	0.259629	0.38778	N	0.001570	T	0.64670	0.2619	L	0.46157	1.445	0.43226	D	0.995111	B;P;B	0.48089	0.001;0.905;0.001	B;P;B	0.50970	0.004;0.655;0.009	T	0.58962	-0.7543	10	0.17369	T	0.5	.	17.4038	0.87468	0.0:0.0:1.0:0.0	.	717;678;654	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	Q	717;717;654;678;717	ENSP00000273980:P717Q;ENSP00000405847:P717Q;ENSP00000355338:P654Q;ENSP00000378196:P678Q;ENSP00000378198:P717Q	ENSP00000273980:P717Q	P	-	2	0	TBCK	107311786	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.828000	0.62730	2.473000	0.83533	0.585000	0.79938	CCA		0.443	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		6	128	6	128	---	---	---	---	T	107092337	G	T	107092337	3	4	128	1	0	0	0	0	1	0	0	0	15633	1348	47	1	547	1	TBCK	4	107092337	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3563942	107092337	84061939	56	5694										
ANK2	287	broad.mit.edu	37	chr4	114275162	114275162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagtcaaaggcaaggaggaCgtgccaaaaaagaccaccca	11	10	1	2	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_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_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			Somatic				ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.D1796D	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	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	22	130	---	---	---	---	T	114275162	C	T	114275162	2	4	128	1	0	0	0	0	0	0	0	1	621	535	19	2		2	ANK2	4	114275162	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7182825	114275162	76879114	57	5695										
KIAA1109	84162	broad.mit.edu	37	chr4	123179972	123179972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactttctaaaactcataccCatagtgactctgcattaaaa	3	10	3	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.chr4:123179972C>A	ENST00000264501.4	+	42	7109	c.6736C>A	c.(6736-6738)Cat>Aat	p.H2246N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N			Q2LD37	K1109_HUMAN	KIAA1109	2246					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						AACTCATACCCATAGTGACTC	0.363																																						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.(6736-6738)Cat>Aat		KIAA1109							88	83	84					4																	123179972		1834	4091	5925	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123179972C>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.6736C>A	4.37:g.123179972C>A	ENSP00000264501:p.His2246Asn		Somatic				KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N	p.H2246N			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			42	7109	+			2246					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.6736C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.467866|4.467866	0.84533|0.84533	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.24723|.	2.47;2.47;1.84|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.52532|.	U|.	0.000069|.	T|T	0.57519|0.57519	0.2059|0.2059	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999922|0.999922	P;P;P|.	0.42827|.	0.718;0.578;0.791|.	B;B;B|.	0.41271|.	0.199;0.352;0.259|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.29301|.	T|.	0.29|.	.|.	20.394|20.394	0.98981|0.98981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2246;2245;2246|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	N|Q	2246|203	ENSP00000264501:H2246N;ENSP00000373390:H2246N;ENSP00000389925:H2246N|.	ENSP00000264501:H2246N|.	H|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123399422|123399422	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	7.424000|7.424000	0.80242|0.80242	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	CAT|CCA		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	39	4	39	---	---	---	---	A	123179972	C	A	123179972	3	1	128	1	0	0	0	0	1	0	0	0	8208	594	21	1	6894	1	KIAA1109	4	123179972	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8904810	123179972	67974304	58	5696										
INTU	27152	broad.mit.edu	37	chr4	128626838	128626838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgctgcctttagcagcaaaAcaaagaattggtcagttgat	9	8	1	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.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																																						ENST00000335251.6																			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			Somatic				INTU_ENST00000512995.1_3'UTR	p.K553K	NM_015693.3	NP_056508.2	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			11	1762	+								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	25	127	---	---	---	---	G	128626838	A	G	128626838	2	3	128	1	0	0	0	0	0	0	0	1	7786	40	2	2		2	INTU	4	128626838	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	5446866	128626838	62527438	59	5697										
GUCY1A3	2982	broad.mit.edu	37	chr4	156643199	156643199	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgctttcagatgcgaattGgactgcactctggatcagtt	10	8	3	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.chr4:156643199G>T	ENST00000296518.7	+	9	1935	c.1726G>T	c.(1726-1728)Gga>Tga	p.G576*	GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	576	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)			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)		GATGCGAATTGGACTGCACTC	0.403																																						ENST00000296518.7																			0				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.(1726-1728)Gga>Tga		guanylate cyclase 1, soluble, alpha 3							274	262	266					4																	156643199		2203	4300	6503	SO:0001587	stop_gained	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.chr4:156643199G>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.1726G>T	4.37:g.156643199G>T	ENSP00000296518:p.Gly576*		Somatic				GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576*	p.G576*			WXS	Illumina GAIIx	Phase_I	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	1935	+	all_hematologic(180;0.24)	Renal(120;0.0854)	576			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1726G>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	43	10.124953	0.99342	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	.	.	.	X	576;576;576;576;318;576;576	.	ENSP00000296518:G576X	G	+	1	0	GUCY1A3	156862649	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	GGA		0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			7	236	7	236	---	---	---	---	T	156643199	G	T	156643199	4	4	128	1	0	0	0	0	0	1	0	0	6894	1349	47	1	1767	1	GUCY1A3	4	156643199	Nonsense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	28016361	156643199	34511077	60	5698										
GALNTL6	442117	broad.mit.edu	37	chr4	173734829	173734829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgtactacaaaagaatccCcatccctccagagctccaga	5	14	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.chr4:173734829C>A	ENST00000506823.1	+	7	1535	c.878C>A	c.(877-879)cCc>cAc	p.P293H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	293					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						AAAAGAATCCCCATCCCTCCA	0.557																																						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.(877-879)cCc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							80	77	78					4																	173734829		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173734829C>A		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.878C>A	4.37:g.173734829C>A	ENSP00000423313:p.Pro293His		Somatic				GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H	p.P293H	NM_001034845.2	NP_001030017.2	WXS	Illumina GAIIx	Phase_I	Q49A17	GLTL6_HUMAN			7	1535	+			293					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.878C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432039	0.83776	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.78792	0.4339	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79237	-0.1886	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	293	Q49A17	GLTL6_HUMAN	H	293;276	ENSP00000423313:P293H;ENSP00000423827:P276H	ENSP00000423313:P293H	P	+	2	0	GALNTL6	173971404	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.596000	0.82721	2.836000	0.97738	0.655000	0.94253	CCC		0.557	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		6	52	6	52	---	---	---	---	A	173734829	C	A	173734829	3	1	128	1	0	0	0	0	1	0	0	0	6225	623	22	1	900	1	GALNTL6	4	173734829	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	17091630	173734829	17419447	61	5699										
WDR17	116966	broad.mit.edu	37	chr4	177052766	177052766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaagcgaagcagttccaccCccaactttaacacagaatca	5	14	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.chr4:177052766C>A	ENST00000280190.4	+	8	1203	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P	WDR17_ENST00000508596.1_Silent_p.P325P|WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000393643.2_Silent_p.P325P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	349										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)		CAGTTCCACCCCCAACTTTAA	0.388																																						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.(973-975)ccC>ccA		WD repeat domain 17							249	243	245					4																	177052766		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177052766C>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.1047C>A	4.37:g.177052766C>A			Somatic				WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000280190.4_Silent_p.P349P|WDR17_ENST00000508596.1_Silent_p.P325P	p.P325P	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	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)	7	1227	+		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)	349					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.975C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134168	0.01742	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.44	-1.92	0.07618	.	0.112572	0.64402	D	0.000009	T	0.46425	0.1392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35599	-0.9782	6	0.51188	T	0.08	-4.8028	2.1223	0.03729	0.105:0.2667:0.3099:0.3185	.	.	.	.	H	98	.	ENSP00000426847:P98H	P	+	2	0	WDR17	177289760	0.001000	0.12720	0.286000	0.24833	0.028000	0.11728	-1.861000	0.01654	-0.413000	0.07507	-0.781000	0.03364	CCC		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			8	179	8	179	---	---	---	---	A	177052766	C	A	177052766	2	1	128	1	0	0	0	0	0	0	0	1	17274	610	22	1		1	WDR17	4	177052766	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3317937	177052766	14101510	62	5700										
NIPBL	25836	broad.mit.edu	37	chr5	37020937	37020937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgttcgatacttggcctcCatgaggccgtttgcccagag	11	11	0	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.chr5:37020937C>A	ENST00000282516.8	+	27	5785	c.5286C>A	c.(5284-5286)tcC>tcA	p.S1762S	NIPBL_ENST00000448238.2_Silent_p.S1762S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1762					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)			ACTTGGCCTCCATGAGGCCGT	0.348																																						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.(5284-5286)tcC>tcA		Nipped-B homolog (Drosophila)							212	207	209					5																	37020937		2203	4300	6503	SO:0001819	synonymous_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.chr5:37020937C>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.5286C>A	5.37:g.37020937C>A			Somatic				NIPBL_ENST00000448238.2_Silent_p.S1762S	p.S1762S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina GAIIx	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		27	5785	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1762					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.5286C>A	CCDS3920.1																																																																																				0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	250	7	250	---	---	---	---	A	37020937	C	A	37020937	2	1	128	1	0	0	0	0	0	0	0	1	10428	581	21	1		1	NIPBL	5	37020937	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08		37020937	143894323	63	5701										
C9	735	broad.mit.edu	37	chr5	39311238	39311238	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagctctatttctaggcataCctttccgcttcatggaagct	8	11	3	0	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			Somatic						NM_001737.3	NP_001728.1	WXS	Illumina GAIIx	Phase_I	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	17	45	---	---	---	---	T	39311238	C	T	39311238	5	4	128	1	0	0	0	0	0	0	1	0	2443	521	18	2	587	2	C9	5	39311238	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2290301	39311238	141604022	64	5702										
FBXO4	26272	broad.mit.edu	37	chr5	41939622	41939622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcgggaagaccattgttGgttttatcttgtatttctca	8	7	3	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.chr5:41939622G>T	ENST00000281623.3	+	6	1034	c.978G>T	c.(976-978)ttG>ttT	p.L326F	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	326					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)				GACCATTGTTGGTTTTATCTT	0.393																																						ENST00000281623.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(976-978)ttG>ttT		F-box protein 4							172	179	176					5																	41939622		2203	4300	6503	SO:0001583	missense	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.chr5:41939622G>T	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.978G>T	5.37:g.41939622G>T	ENSP00000281623:p.Leu326Phe		Somatic				FBXO4_ENST00000509134.1_Intron	p.L326F	NM_012176.2	NP_036308.1	WXS	Illumina GAIIx	Phase_I	Q9UKT5	FBX4_HUMAN			6	1034	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	326					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.978G>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442189	0.63067	.	.	ENSG00000151876	ENST00000281623	T	0.55052	0.54	5.29	1.38	0.22167	.	0.000000	0.64402	D	0.000001	T	0.60971	0.2310	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.59112	-0.7515	10	0.87932	D	0	-10.3918	7.2066	0.25911	0.2586:0.0:0.6283:0.1131	.	326	Q9UKT5	FBX4_HUMAN	F	326	ENSP00000281623:L326F	ENSP00000281623:L326F	L	+	3	2	FBXO4	41975379	0.991000	0.36638	0.999000	0.59377	0.986000	0.74619	0.054000	0.14205	0.302000	0.22762	0.561000	0.74099	TTG		0.393	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			7	134	7	134	---	---	---	---	T	41939622	G	T	41939622	3	4	128	1	0	0	0	0	1	0	0	0	5748	1339	47	1	1026	1	FBXO4	5	41939622	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2628384	41939622	138975638	65	5703										
FGF10	2255	broad.mit.edu	37	chr5	44388499	44388499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggtcccgctgaccttccCgttcttctcaatcttgagaa	7	14	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.chr5:44388499C>A	ENST00000264664.4	-	1	400	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	96					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)					CTGACCTTCCCGTTCTTCTCA	0.532																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(286-288)Ggg>Tgg		fibroblast growth factor 10							138	147	144					5																	44388499		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.chr5:44388499C>A		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.286G>T	5.37:g.44388499C>A	ENSP00000264664:p.Gly96Trp		Somatic					p.G96W	NM_004465.1	NP_004456.1	WXS	Illumina GAIIx	Phase_I	O15520	FGF10_HUMAN			1	400	-	Lung NSC(6;1.12e-06)		96					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.286G>T	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855349	0.71719	.	.	ENSG00000070193	ENST00000264664	D	0.94376	-3.41	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.87932	D	0	.	18.2278	0.89924	0.0:1.0:0.0:0.0	.	96	O15520	FGF10_HUMAN	W	96	ENSP00000264664:G96W	ENSP00000264664:G96W	G	-	1	0	FGF10	44424256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.612000	0.82975	2.383000	0.81215	0.561000	0.74099	GGG		0.532	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		6	90	6	90	---	---	---	---	A	44388499	C	A	44388499	3	1	128	1	0	0	0	0	1	0	0	0	5839	652	23	1	352	1	FGF10	5	44388499	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2448877	44388499	136526761	66	5704										
SPATA9	83890	broad.mit.edu	37	chr5	95018262	95018262	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgataatcttaggatggtGggaaattcatctttaaactc	9	5	3	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.chr5:95018262G>T	ENST00000274432.8	-	2	261	c.120C>A	c.(118-120)ccC>ccA	p.P40P	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P40P	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	40					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TTAGGATGGTGGGAAATTCAT	0.308																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(118-120)ccC>ccA		spermatogenesis associated 9							95	98	97					5																	95018262		2203	4300	6503	SO:0001819	synonymous_variant	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95018262G>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.120C>A	5.37:g.95018262G>T			Somatic				RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P40P|SPATA9_ENST00000477047.2_5'UTR	p.P40P	NM_031952.3	NP_114158.2	WXS	Illumina GAIIx	Phase_I	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	2	261	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	40					A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	37	c.120C>A	CCDS4076.1																																																																																				0.308	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		6	93	6	93	---	---	---	---	T	95018262	G	T	95018262	2	4	128	1	0	0	0	0	0	0	0	1	15015	1335	47	1		1	SPATA9	5	95018262	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	50629763	95018262	85896998	67	5705										
ZNF608	57507	broad.mit.edu	37	chr5	124036819	124036819	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttcacatgtattgacaccCacagaacgagtccgaaccaa	6	13	1	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.chr5:124036819C>A	ENST00000306315.5	-	2	1485	c.1050G>T	c.(1048-1050)gtG>gtT	p.V350V	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	350							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)		TATTGACACCCACAGAACGAG	0.512																																						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.(1048-1050)gtG>gtT		zinc finger protein 608							144	130	135					5																	124036819		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124036819C>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.1050G>T	5.37:g.124036819C>A			Somatic				ZNF608_ENST00000504926.1_5'UTR	p.V350V	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	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	1485	-		all_cancers(142;0.186)|Prostate(80;0.081)	350					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1050G>T	CCDS34219.1																																																																																				0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		5	82	5	82	---	---	---	---	A	124036819	C	A	124036819	2	1	128	1	0	0	0	0	0	0	0	1	18031	581	21	1		1	ZNF608	5	124036819	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	29018557	124036819	56878441	68	5706										
C5orf56	441108	broad.mit.edu	37	chr5	131796342	131796342	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgccatcctgccttcccCgtggagtacagccatgctgt	9	16	0	0	rs140600303	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.chr5:131796342C>A	ENST00000337752.2	+	4	308	c.177C>A	c.(175-177)ccC>ccA	p.P59P	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	59								p.P59P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ctgccttccccgtggagtaca	0.483																																						ENST00000337752.2																			1	Substitution - coding silent(1)	p.P59P(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(175-177)ccC>ccA		chromosome 5 open reading frame 56							179	157	165					5																	131796342		2203	4300	6503	SO:0001819	synonymous_variant	441108							g.chr5:131796342C>A	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.177C>A	5.37:g.131796342C>A			Somatic				C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron	p.P59P			WXS	Illumina GAIIx	Phase_I	Q8N8D9	CE056_HUMAN			4	308	+			59					A1L3V9|A6NKA0	Silent	SNP	ENST00000337752.2	37	c.177C>A																																																																																					0.483	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717		6	218	6	218	---	---	---	---	A	131796342	C	A	131796342	2	1	128	1	0	0	0	0	0	0	0	1	2312	639	23	1		1	C5orf56	5	131796342	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7759523	131796342	49118918	69	5707										
SEPT8	23176	broad.mit.edu	37	chr5	132098260	132098260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccattgctgaccaactcgccCatgatcttgatcttgaactt	6	13	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.chr5:132098260C>A	ENST00000378719.2	-	5	849	c.612G>T	c.(610-612)atG>atT	p.M204I	SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I|SEPT8_ENST00000296873.7_Missense_Mutation_p.M204I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	204	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)			CCAACTCGCCCATGATCTTGA	0.532																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(610-612)atG>atT		septin 8							132	132	132					5																	132098260		2120	4256	6376	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132098260C>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.612G>T	5.37:g.132098260C>A	ENSP00000367991:p.Met204Ile		Somatic				SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I|SEPT8_ENST00000378719.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I	p.M204I	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	WXS	Illumina GAIIx	Phase_I	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	895	-		all_cancers(142;0.0751)|Breast(839;0.198)	204					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.612G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442556	0.83993	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	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	5.98	5.98	0.97165	.	0.039342	0.85682	D	0.000000	T	0.56819	0.2011	M	0.66439	2.03	0.80722	D	1	D;D;B;D	0.65815	0.995;0.995;0.304;0.995	D;D;B;D	0.77004	0.989;0.989;0.214;0.989	T	0.47302	-0.9128	10	0.40728	T	0.16	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	202;202;204;204	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	I	204;202;204;144;204;144;202;204	ENSP00000367991:M204I;ENSP00000367993:M202I;ENSP00000296873:M204I;ENSP00000399840:M144I;ENSP00000367978:M204I;ENSP00000367971:M144I;ENSP00000367973:M202I;ENSP00000394766:M204I	ENSP00000296873:M204I	M	-	3	0	SEPT8	132126159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.837000	0.97791	0.591000	0.81541	ATG		0.532	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		5	98	5	98	---	---	---	---	A	132098260	C	A	132098260	3	1	128	1	0	0	0	0	1	0	0	0	14070	594	21	1	918	1	SEPT8	5	132098260	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	301918	132098260	48817000	70	5708										
KDM3B	51780	broad.mit.edu	37	chr5	137722057	137722057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggatgagcctgtaggtgGggacacacctgcatctttca	13	10	2	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.chr5:137722057G>T	ENST00000314358.5	+	7	1327	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	376					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						CCTGTAGGTGGGGACACACCT	0.522																																						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.(1126-1128)gGg>gTg		lysine (K)-specific demethylase 3B							174	187	182					5																	137722057		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.chr5:137722057G>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.1127G>T	5.37:g.137722057G>T	ENSP00000326563:p.Gly376Val		Somatic				KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V	p.G376V	NM_016604.3	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			7	1327	+			376					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1127G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923704	0.52653	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.71341	0.09;-0.56	5.6	4.72	0.59763	.	0.160839	0.43416	D	0.000565	T	0.50735	0.1633	N	0.19112	0.55	0.80722	D	1	P;P	0.44578	0.828;0.838	B;B	0.39531	0.302;0.296	T	0.46762	-0.9168	10	0.15499	T	0.54	-29.4253	10.1798	0.42961	0.149:0.0:0.851:0.0	.	32;376	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	V	376;166;32	ENSP00000326563:G376V;ENSP00000378335:G32V	ENSP00000326563:G376V	G	+	2	0	KDM3B	137749956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.605000	0.54088	2.619000	0.88677	0.563000	0.77884	GGG		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		11	285	11	285	---	---	---	---	T	137722057	G	T	137722057	3	4	128	1	0	0	0	0	1	0	0	0	8127	1232	43	1	1153	1	KDM3B	5	137722057	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	5623797	137722057	43193203	71	5709										
CD14	929	broad.mit.edu	37	chr5	140011612	140011612	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgtcaggttatccacctcGggcagctcgtcaggctgcgg	14	12	2	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.chr5:140011612G>T	ENST00000302014.6	-	2	1586	c.957C>A	c.(955-957)ccC>ccA	p.P319P	CD14_ENST00000401743.2_Silent_p.P319P	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	319					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)			TATCCACCTCGGGCAGCTCGT	0.627																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(955-957)ccC>ccA		CD14 molecule							42	44	43					5																	140011612		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.chr5:140011612G>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.957C>A	5.37:g.140011612G>T			Somatic				CD14_ENST00000401743.2_Silent_p.P319P	p.P319P	NM_000591.3	NP_000582.1	WXS	Illumina GAIIx	Phase_I	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1586	-			319					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.957C>A	CCDS4232.1																																																																																				0.627	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		4	43	4	43	---	---	---	---	T	140011612	G	T	140011612	2	4	128	1	0	0	0	0	0	0	0	1	2964	1103	39	1		1	CD14	5	140011612	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2289555	140011612	40903648	72	5710										
PCDHGC3	5098	broad.mit.edu	37	chr5	140857427	140857427	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcggtggagatgctgcctCgaggtacctcagctggccac	14	13	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.chr5:140857427C>A	ENST00000308177.3	+	1	1848	c.1744C>A	c.(1744-1746)Cga>Aga	p.R582R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_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|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_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|PCDHGA10_ENST00000398610.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	582	Cadherin 6. {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)			GATGCTGCCTCGAGGTACCTC	0.582											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1744-1746)Cga>Aga									49	54	52					5																	140857427		2203	4300	6503	SO:0001819	synonymous_variant	5098							g.chr5:140857427C>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.1744C>A	5.37:g.140857427C>A			Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R582R	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1848	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1744C>A	CCDS4261.1																																																																																				0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		4	54	4	54	---	---	---	---	A	140857427	C	A	140857427	2	1	128	1	0	0	0	0	0	0	0	1	11569	876	31	3		3	PCDHGC3	5	140857427	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	845815	140857427	40057833	73	5711										
DPYSL3	1809	broad.mit.edu	37	chr5	146773669	146773669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgctggctgagcgaacccCctcatccacttgggtgccta	10	15	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.chr5:146773669C>A	ENST00000398514.3	-	14	2013	c.1642G>T	c.(1642-1644)Ggg>Tgg	p.G548W	DPYSL3_ENST00000343218.5_Missense_Mutation_p.G662W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	548					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGAACCCCCTCATCCACT	0.537																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1984-1986)Ggg>Tgg		dihydropyrimidinase-like 3							51	53	53					5																	146773669		1832	4087	5919	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146773669C>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1642G>T	5.37:g.146773669C>A	ENSP00000381526:p.Gly548Trp		Somatic				DPYSL3_ENST00000398514.3_Missense_Mutation_p.G548W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W	p.G662W	NM_001197294.1	NP_001184223.1	WXS	Illumina GAIIx	Phase_I	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2181	-			548					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1984G>T	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.193347|2.193347	0.38707|0.38707	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218;ENST00000534907	.|D;D;T	.|0.85556	.|-2.0;-2.0;-0.8	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.290613|0.290613	0.38164|0.38164	N|N	0.001785|0.001785	D|D	0.84669|0.84669	0.5523|0.5523	N|N	0.14661|0.14661	0.345|0.345	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P	.|0.54772	.|0.968;0.776	.|P;B	.|0.57057	.|0.812;0.325	D|D	0.87657|0.87657	0.2532|0.2532	6|10	.|0.87932	.|D	.|0	-20.5924|-20.5924	19.2217|19.2217	0.93799|0.93799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|662;548	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	V|W	186|548;662;174	.|ENSP00000381526:G548W;ENSP00000343690:G662W;ENSP00000441819:G174W	.|ENSP00000343690:G662W	G|G	-|-	2|1	0|0	DPYSL3|DPYSL3	146753862|146753862	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.125000|0.125000	0.20455|0.20455	2.516000|2.516000	0.45520|0.45520	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.537	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		6	73	6	73	---	---	---	---	A	146773669	C	A	146773669	3	1	128	1	0	0	0	0	1	0	0	0	4748	623	22	1	74	1	DPYSL3	5	146773669	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5916242	146773669	34141591	74	5712										
STC2	8614	broad.mit.edu	37	chr5	172752929	172752929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaaatcccatgtaagcccCgaatctcacaagagttgttc	7	12	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.chr5:172752929C>A	ENST00000265087.4	-	2	1545	c.236G>T	c.(235-237)cGg>cTg	p.R79L	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	79					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGTAAGCCCCGAATCTCACA	0.468																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(235-237)cGg>cTg		stanniocalcin 2							239	258	252					5																	172752929		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752929C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.236G>T	5.37:g.172752929C>A	ENSP00000265087:p.Arg79Leu		Somatic					p.R79L	NM_003714.2	NP_003705.1	WXS	Illumina GAIIx	Phase_I	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1545	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	79						Missense_Mutation	SNP	ENST00000265087.4	37	c.236G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330087	0.95733	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.45	4.57	0.56435	.	0.059557	0.64402	D	0.000002	T	0.64951	0.2645	M	0.63428	1.95	0.54753	D	0.999982	P	0.47484	0.896	P	0.51657	0.676	T	0.66803	-0.5831	9	0.51188	T	0.08	-19.3607	13.2335	0.59957	0.0:0.9226:0.0:0.0774	.	79	O76061	STC2_HUMAN	L	79	.	ENSP00000265087:R79L	R	-	2	0	STC2	172685535	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	3.075000	0.50073	1.276000	0.44395	0.655000	0.94253	CGG		0.468	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		9	357	9	357	---	---	---	---	A	172752929	C	A	172752929	3	1	128	1	0	0	0	0	1	0	0	0	15275	652	23	1	684	1	STC2	5	172752929	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	25979260	172752929	8162331	75	5713										
HIST1H4A	8359	broad.mit.edu	37	chr6	26021990	26021990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgttgcgtgacaacatccaGggcatcaccaagccggccat	11	13	1	1	rs376305446		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.chr6:26021990G>T	ENST00000359907.3	+	1	84	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	28					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						ACAACATCCAGGGCATCACCA	0.622																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(82-84)caG>caT		histone cluster 1, H4a							76	77	77					6																	26021990		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.chr6:26021990G>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.84G>T	6.37:g.26021990G>T	ENSP00000352980:p.Gln28His		Somatic					p.Q28H	NM_003538.3	NP_003529.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	84	+			28					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.84G>T	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975092	0.53720	.	.	ENSG00000196176	ENST00000359907	T	0.68181	-0.31	3.79	1.96	0.26148	.	.	.	.	.	T	0.53530	0.1802	.	.	.	0.38459	D	0.947177	.	.	.	.	.	.	T	0.51092	-0.8749	5	.	.	.	.	9.5523	0.39317	0.1798:0.0:0.8202:0.0	.	.	.	.	H	28	ENSP00000352980:Q28H	.	Q	+	3	2	HIST1H4A	26129969	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.342000	0.59341	0.340000	0.23745	-0.150000	0.13652	CAG		0.622	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		5	57	5	57	---	---	---	---	T	26021990	G	T	26021990	3	4	128	1	0	0	0	0	1	0	0	0	7165	991	35	1	86	1	HIST1H4A	6	26021990	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		26021990	145093077	76	5714										
TULP1	7287	broad.mit.edu	37	chr6	35477698	35477698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggggggtcagggcttccCaggtctcctggaaatggaag	18	8	2	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.chr6:35477698C>A	ENST00000229771.6	-	6	586	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TULP1_ENST00000322263.4_Silent_p.L116L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	169					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						CAGGGCTTCCCAGGTCTCCTG	0.567																																					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.(505-507)ctG>ctT		tubby like protein 1							79	83	81					6																	35477698		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.chr6:35477698C>A	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.507G>T	6.37:g.35477698C>A			Somatic				TULP1_ENST00000322263.4_Silent_p.L116L	p.L169L	NM_003322.3	NP_003313.3	WXS	Illumina GAIIx	Phase_I	O00294	TULP1_HUMAN			6	586	-			169					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.507G>T	CCDS4807.1																																																																																				0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			5	110	5	110	---	---	---	---	A	35477698	C	A	35477698	2	1	128	1	0	0	0	0	0	0	0	1	16770	581	21	1		1	TULP1	6	35477698	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	9455708	35477698	135637369	77	5715										
DNAH8	1769	broad.mit.edu	37	chr6	38747769	38747769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagctgaacattccctgtctGggattagaaataaaccacac	7	10	1	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.chr6:38747769G>T	ENST00000359357.3	+	13	1670	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L	DNAH8_ENST00000449981.2_Silent_p.L689L|DNAH8_ENST00000441566.1_Silent_p.L472L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	472					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						TTCCCTGTCTGGGATTAGAAA	0.343																																						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.(1414-1416)ctG>ctT		dynein, axonemal, heavy chain 8							121	118	119					6																	38747769		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38747769G>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.1416G>T	6.37:g.38747769G>T			Somatic				DNAH8_ENST00000441566.1_Silent_p.L472L|DNAH8_ENST00000449981.2_Silent_p.L689L	p.L472L			WXS	Illumina GAIIx	Phase_I					13	1670	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.1416G>T																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	45	5	45	---	---	---	---	T	38747769	G	T	38747769	2	4	128	1	0	0	0	0	0	0	0	1	4607	1335	47	1		1	DNAH8	6	38747769	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3270071	38747769	132367298	78	5716										
CUL9	23113	broad.mit.edu	37	chr6	43188277	43188277	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccccattgccgactgcccCgcccagcccaccggagcctt	9	21	0	0	rs189476869		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.chr6:43188277C>A	ENST00000252050.4	+	32	6447	c.6363C>A	c.(6361-6363)ccC>ccA	p.P2121P	CUL9_ENST00000372647.2_Silent_p.P2093P|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.P2011P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2121					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						CCGACTGCCCCGCCCAGCCCA	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.(6361-6363)ccC>ccA		cullin 9							141	139	140					6																	43188277		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.chr6:43188277C>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.6363C>A	6.37:g.43188277C>A			Somatic				CUL9_ENST00000354495.3_Silent_p.P2011P|CUL9_ENST00000372647.2_Silent_p.P2093P|RP3-330M21.5_ENST00000500590.1_RNA	p.P2121P	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			32	6447	+			2121					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.6363C>A	CCDS4890.1																																																																																				0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		6	220	6	220	---	---	---	---	A	43188277	C	A	43188277	2	1	128	1	0	0	0	0	0	0	0	1	4061	639	23	1		1	CUL9	6	43188277	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	4440508	43188277	127926790	79	5717										
BAI3	577	broad.mit.edu	37	chr6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccttctggctttgacgtggAtgtctgcggttctggccatg	13	11	3	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.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		Somatic				BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	p.M1114L	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	44	171	---	---	---	---	T	70049277	A	T	70049277	3	4	128	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	26861000	70049277	101065790	80	5718										
L3MBTL3	84456	broad.mit.edu	37	chr6	130425710	130425710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaatgaaagctcttcttccCctgaaatcaggtaatcaaag	6	10	4	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.chr6:130425710C>A	ENST00000529410.1	+	21	2355	c.1876C>A	c.(1876-1878)Cct>Act	p.P626T	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	626					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.P626T(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)		CTCTTCTTCCCCTGAAATCAG	0.348																																						ENST00000529410.1																			1	Substitution - Missense(1)	p.P626T(1)	lung(1)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1876-1878)Cct>Act		l(3)mbt-like 3 (Drosophila)							86	89	88					6																	130425710		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130425710C>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.1876C>A	6.37:g.130425710C>A	ENSP00000431962:p.Pro626Thr		Somatic				L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T	p.P626T			WXS	Illumina GAIIx	Phase_I	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	21	2355	+			626					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1876C>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514547	0.27123	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14766	2.48;2.51;2.48;2.51;2.51;2.48	6.17	6.17	0.99709	.	0.056321	0.64402	D	0.000002	T	0.25938	0.0632	L	0.55481	1.735	0.58432	D	0.999993	D;B	0.76494	0.999;0.035	D;B	0.80764	0.994;0.01	T	0.00072	-1.2128	10	0.45353	T	0.12	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	601;626	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	626;601;626;601;601;626	ENSP00000431962:P626T;ENSP00000437185:P601T;ENSP00000354526:P626T;ENSP00000357121:P601T;ENSP00000436706:P601T;ENSP00000357118:P626T	ENSP00000354526:P626T	P	+	1	0	L3MBTL3	130467403	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	4.705000	0.61838	2.941000	0.99782	0.655000	0.94253	CCT		0.348	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	128	7	128	---	---	---	---	A	130425710	C	A	130425710	3	1	128	1	0	0	0	0	1	0	0	0	8593	623	22	1	1942	1	L3MBTL3	6	130425710	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	60376433	130425710	40689357	81	5719										
TAAR8	83551	broad.mit.edu	37	chr6	132874239	132874239	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacattgtggttactgatccCctggtctatgctaccaagtt	8	10	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.chr6:132874239C>A	ENST00000275200.1	+	1	408	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	136					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)		TTACTGATCCCCTGGTCTATG	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(406-408)ccC>ccA		trace amine associated receptor 8							361	319	334					6																	132874239		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874239C>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.408C>A	6.37:g.132874239C>A			Somatic					p.P136P	NM_053278.1	NP_444508.1	WXS	Illumina GAIIx	Phase_I	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	408	+	Breast(56;0.112)		136					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.408C>A	CCDS5154.1																																																																																				0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		10	392	10	392	---	---	---	---	A	132874239	C	A	132874239	2	1	128	1	0	0	0	0	0	0	0	1	15490	610	22	1		1	TAAR8	6	132874239	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2448529	132874239	38240828	82	5720										
AHI1	54806	broad.mit.edu	37	chr6	135679325	135679325	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctttctatgctgataatcCctgtggaaagaaaacattgt	7	7	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.chr6:135679325C>A	ENST00000367800.4	-	22	3326	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V	AHI1_ENST00000417892.2_Splice_Site_p.G391V|AHI1_ENST00000457866.2_Splice_Site_p.G1037V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1037					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)		GCTGATAATCCCTGTGGAAAG	0.343																																						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.(3109-3111)gGg>gTg		Abelson helper integration site 1							287	281	283					6																	135679325		1856	4096	5952	SO:0001630	splice_region_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135679325C>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.3110-1G>T	6.37:g.135679325C>A			Somatic				AHI1_ENST00000457866.2_Splice_Site_p.G1037V|AHI1_ENST00000417892.2_Splice_Site_p.G391V	p.G1037V	NM_001134830.1	NP_001128302.1	WXS	Illumina GAIIx	Phase_I	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	22	3326	-	Breast(56;0.239)|Colorectal(23;0.24)		1037					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	ENST00000367800.4	37	c.3110G>T	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.44|13.44	2.236909|2.236909	0.39498|0.39498	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	T;T;T;T|.	0.63096|.	0.27;0.27;-0.02;0.27|.	5.4|5.4	3.59|3.59	0.41128|0.41128	.|.	0.422095|0.422095	0.28062|0.28062	N|N	0.016743|0.016743	T|.	0.20820|.	0.0501|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;P|.	0.50066|.	0.931;0.875|.	P;B|.	0.47673|.	0.554;0.212|.	T|.	0.05068|.	-1.0908|.	10|.	0.18276|0.09084	T|T	0.48|0.74	.|.	9.5725|9.5725	0.39436|0.39436	0.0:0.7771:0.1467:0.0762|0.0:0.7771:0.1467:0.0762	.|.	1037;1037|.	Q8N157;Q4FD35|.	AHI1_HUMAN;.|.	V|X	1037;1037;391;1037|537	ENSP00000356774:G1037V;ENSP00000388650:G1037V;ENSP00000416867:G391V;ENSP00000265602:G1037V|.	ENSP00000265602:G1037V|ENSP00000356773:G537X	G|G	-|-	2|1	0|0	AHI1|AHI1	135721018|135721018	0.979000|0.979000	0.34478|0.34478	0.669000|0.669000	0.29828|0.29828	0.393000|0.393000	0.30537|0.30537	2.314000|2.314000	0.43743|0.43743	0.740000|0.740000	0.32651|0.32651	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.343	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Missense_Mutation	11	367	11	367	---	---	---	---	A	135679325	C	A	135679325	5	1	128	1	0	0	0	0	0	0	1	0	413	637	22	1	504	1	AHI1	6	135679325	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2805086	135679325	35435742	83	5721										
BCLAF1	9774	broad.mit.edu	37	chr6	136597547	136597547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgatcttcccattctccCtctgccctccctttctctga	3	19	4	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.chr6:136597547C>A	ENST00000531224.1	-	5	1368	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					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)		CCCATTCTCCCTCTGCCCTCC	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.(1114-1116)gaG>gaT		BCL2-associated transcription factor 1							202	219	213					6																	136597547		2203	4296	6499	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597547C>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.1116G>T	6.37:g.136597547C>A	ENSP00000435210:p.Glu372Asp		Somatic				BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D	p.E372D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina GAIIx	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1368	-	Colorectal(23;0.24)		372					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1116G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484442	0.12641	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.53	1.74	0.24563	.	0.096055	0.45606	N	0.000355	T	0.01976	0.0062	N	0.08118	0	0.80722	D	1	P;P;P	0.49783	0.865;0.928;0.865	B;P;B	0.46975	0.379;0.533;0.379	T	0.37174	-0.9717	10	0.10377	T	0.69	-5.9062	2.818	0.05463	0.1282:0.5472:0.1237:0.2009	.	370;370;372	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	D	372;370;372;370;370;372	ENSP00000435210:E372D;ENSP00000229446:E370D;ENSP00000435441:E372D;ENSP00000434826:E370D;ENSP00000376159:E370D;ENSP00000431734:E372D	ENSP00000229446:E370D	E	-	3	2	BCLAF1	136639240	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.066000	0.30604	0.105000	0.17753	0.650000	0.86243	GAG		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	382	9	382	---	---	---	---	A	136597547	C	A	136597547	3	1	128	1	0	0	0	0	1	0	0	0	1383	680	24	1	1682	1	BCLAF1	6	136597547	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	918222	136597547	34517520	84	5722										
UTRN	7402	broad.mit.edu	37	chr6	145093097	145093097	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaatgaccgaactctttcaAtcccttggtaagtgttatta	6	8	2	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.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			Somatic				UTRN_ENST00000367526.4_Silent_p.Q405Q	p.Q2850Q	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	G	145093097	A	G	145093097	2	3	128	1	0	0	0	0	0	0	0	1	17100	98	4	2		2	UTRN	6	145093097	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	8495550	145093097	26021970	85	5723										
EPM2A	7957	broad.mit.edu	37	chr6	145948584	145948584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagaagaacgaaccttccCaaatttctggaaaaaatctt	5	10	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.chr6:145948584C>A	ENST00000367519.3	-	4	1489	c.964G>T	c.(964-966)Ggg>Tgg	p.G322W		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	322					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CGAACCTTCCCAAATTTCTGG	0.522																																						ENST00000367519.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(964-966)Ggg>Tgg		epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)							98	106	103					6																	145948584		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145948584C>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.964G>T	6.37:g.145948584C>A	ENSP00000356489:p.Gly322Trp		Somatic					p.G322W	NM_005670.3	NP_005661.1	WXS	Illumina GAIIx	Phase_I	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	4	1489	-		Ovarian(120;0.162)	322					B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.964G>T	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764776	0.90020	.	.	ENSG00000112425	ENST00000367519;ENST00000324857	D	0.97598	-4.45	5.89	5.89	0.94794	.	0.093640	0.85682	D	0.000000	D	0.98036	0.9353	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.969	D	0.98652	1.0680	10	0.87932	D	0	-15.3685	20.2562	0.98421	0.0:1.0:0.0:0.0	.	322;184	O95278;E1P599	EPM2A_HUMAN;.	W	322	ENSP00000356489:G322W	ENSP00000320279:G322W	G	-	1	0	EPM2A	145990277	1.000000	0.71417	0.959000	0.39883	0.809000	0.45718	7.487000	0.81328	2.797000	0.96272	0.563000	0.77884	GGG		0.522	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			6	164	6	164	---	---	---	---	A	145948584	C	A	145948584	3	1	128	1	0	0	0	0	1	0	0	0	5183	594	21	1	69	1	EPM2A	6	145948584	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	855487	145948584	25166483	86	5724										
GRM1	2911	broad.mit.edu	37	chr6	146755763	146755763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcggccagcaaactgacccCggatgattcgcctgcgctga	13	14	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.chr6:146755763C>A	ENST00000282753.1	+	8	3651	c.3416C>A	c.(3415-3417)cCg>cAg	p.P1139Q	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1139Q|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1139					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)		AAACTGACCCCGGATGATTCG	0.657																																						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.(3415-3417)cCg>cAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						45	49	48					6																	146755763		2202	4300	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755763C>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.3416C>A	6.37:g.146755763C>A	ENSP00000282753:p.Pro1139Gln		Somatic				GRM1_ENST00000282753.1_Missense_Mutation_p.P1139Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	p.P1139Q	NM_001278064.1	NP_001264993.1	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3886	+		Ovarian(120;0.0387)	1139					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3416C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977177	0.53720	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	5.97	5.97	0.96955	.	0.265792	0.42172	N	0.000757	T	0.70988	0.3287	L	0.43152	1.355	0.80722	D	1	P	0.43857	0.819	B	0.33846	0.171	T	0.76942	-0.2772	10	0.56958	D	0.05	.	7.8503	0.29451	0.0:0.8124:0.0:0.1876	.	1139	Q13255	GRM1_HUMAN	Q	1139	ENSP00000354896:P1139Q;ENSP00000282753:P1139Q	ENSP00000282753:P1139Q	P	+	2	0	GRM1	146797456	0.992000	0.36948	0.261000	0.24466	0.992000	0.81027	3.134000	0.50538	2.837000	0.97791	0.655000	0.94253	CCG		0.657	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	96	5	96	---	---	---	---	A	146755763	C	A	146755763	3	1	128	1	0	0	0	0	1	0	0	0	6796	652	23	1	3511	1	GRM1	6	146755763	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	807179	146755763	24359304	87	5725										
RAET1E	135250	broad.mit.edu	37	chr6	150209736	150209736	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actaacaggatgaatgccccCaggatgatccatctatctgg	9	11	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.chr6:150209736C>A	ENST00000357183.4	-	4	822	c.690G>T	c.(688-690)ctG>ctT	p.L230L	RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E_ENST00000532335.1_Intron|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	230					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)		TGAATGCCCCCAGGATGATCC	0.418																																						ENST00000357183.4																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(688-690)ctG>ctT		retinoic acid early transcript 1E							101	95	97					6																	150209736		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150209736C>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.690G>T	6.37:g.150209736C>A			Somatic				RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron	p.L230L	NM_139165.2	NP_631904.1	WXS	Illumina GAIIx	Phase_I	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	822	-		Ovarian(120;0.0907)	230					A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.690G>T	CCDS5221.1																																																																																				0.418	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	84	6	84	---	---	---	---	A	150209736	C	A	150209736	2	1	128	1	0	0	0	0	0	0	0	1	12999	581	21	1		1	RAET1E	6	150209736	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3453973	150209736	20905331	88	5726										
RAET1E	135250	broad.mit.edu	37	chr6	150211085	150211085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtctcgccccacttctccCagcgtttgggtcaattctcc	8	16	4	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.chr6:150211085C>A	ENST00000357183.4	-	2	414	c.282G>T	c.(280-282)ctG>ctT	p.L94L	RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E_ENST00000532335.1_Silent_p.L94L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000529948.1_Silent_p.L94L|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	94	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)		CCACTTCTCCCAGCGTTTGGG	0.532																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(280-282)ctG>ctT		retinoic acid early transcript 1E							122	114	117					6																	150211085		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150211085C>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.282G>T	6.37:g.150211085C>A			Somatic				RAET1E_ENST00000357183.4_Silent_p.L94L|RAET1E_ENST00000529948.1_Silent_p.L94L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E-AS1_ENST00000605899.1_RNA	p.L94L	NM_001243328.1	NP_001230257.1	WXS	Illumina GAIIx	Phase_I	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	628	-		Ovarian(120;0.0907)	94			MHC class I alpha-1 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.282G>T	CCDS5221.1																																																																																				0.532	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		5	101	5	101	---	---	---	---	A	150211085	C	A	150211085	2	1	128	1	0	0	0	0	0	0	0	1	12999	581	21	1		1	RAET1E	6	150211085	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1349	150211085	20903982	89	5727										
ULBP3	79465	broad.mit.edu	37	chr6	150386567	150386567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcttcttcctgtgcatcaGgaagtccctaagccagctct	7	15	4	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.chr6:150386567G>T	ENST00000367339.2	-	3	623	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	199	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)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTGTGCATCAGGAAGTCCCTA	0.532																																						ENST00000367339.2																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(595-597)Ctg>Atg		UL16 binding protein 3							137	127	131					6																	150386567		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150386567G>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.595C>A	6.37:g.150386567G>T	ENSP00000356308:p.Leu199Met		Somatic				ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M	p.L199M			WXS	Illumina GAIIx	Phase_I	Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	3	623	-		Ovarian(120;0.12)				MHC class I alpha-2 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.595C>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	G	5.353	0.250333	0.10130	.	.	ENSG00000131019	ENST00000367339;ENST00000438272	T;T	0.01369	4.97;4.97	3.33	-6.65	0.01795	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	0.00967	0.0032	L	0.54323	1.7	0.09310	N	1	D;D	0.55385	0.971;0.971	D;D	0.62955	0.909;0.909	T	0.45745	-0.9240	9	0.87932	D	0	-0.2615	1.9265	0.03318	0.2385:0.0993:0.1697:0.4925	.	199;199	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	M	199	ENSP00000356308:L199M;ENSP00000403562:L199M	ENSP00000356308:L199M	L	-	1	2	ULBP3	150428260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.127000	0.00592	-4.351000	0.00054	-1.241000	0.01538	CTG		0.532	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			7	110	7	110	---	---	---	---	T	150386567	G	T	150386567	3	4	128	1	0	0	0	0	1	0	0	0	16971	991	35	1	146	1	ULBP3	6	150386567	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	175482	150386567	20728500	90	5728										
PLEKHG1	57480	broad.mit.edu	37	chr6	151130591	151130591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcttccactacaagaatccCaagctgcagcacacagtcca	6	15	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.chr6:151130591C>A	ENST00000358517.2	+	9	1381	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P	PLEKHG1_ENST00000367328.1_Silent_p.P390P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	390	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)		ACAAGAATCCCAAGCTGCAGC	0.552																																						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.(1168-1170)ccC>ccA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							89	90	90					6																	151130591		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130591C>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.1170C>A	6.37:g.151130591C>A			Somatic				PLEKHG1_ENST00000358517.2_Silent_p.P390P	p.P390P	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	10	1482	+			390			PH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.1170C>A	CCDS34552.1																																																																																				0.552	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	106	6	106	---	---	---	---	A	151130591	C	A	151130591	2	1	128	1	0	0	0	0	0	0	0	1	12068	581	21	1		1	PLEKHG1	6	151130591	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	744024	151130591	19984476	91	5729										
PLG	5340	broad.mit.edu	37	chr6	161162389	161162389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccagcttgtctgccatccCcaaattatgtggtcgctgac	8	14	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.chr6:161162389C>A	ENST00000308192.9	+	17	2128	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	689	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)	TCTGCCATCCCCAAATTATGT	0.478																																						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.(2065-2067)Cca>Aca		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						116	99	105					6																	161162389		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.chr6:161162389C>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.2065C>A	6.37:g.161162389C>A	ENSP00000308938:p.Pro689Thr		Somatic					p.P689T	NM_000301.3	NP_000292.1	WXS	Illumina GAIIx	Phase_I	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	17	2128	+			689			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2065C>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	5.606	0.296487	0.10622	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.87729	-2.29	3.73	-7.47	0.01365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.061280	0.07544	U	0.914455	T	0.41419	0.1158	N	0.02865	-0.47	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.44221	-0.9342	10	0.15952	T	0.53	.	7.717	0.28710	0.0:0.2387:0.4761:0.2852	.	689	P00747	PLMN_HUMAN	T	689;89	ENSP00000308938:P689T	ENSP00000308938:P689T	P	+	1	0	PLG	161082379	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-1.417000	0.02464	-1.100000	0.03030	-0.396000	0.06452	CCA		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	70	5	70	---	---	---	---	A	161162389	C	A	161162389	3	1	128	1	0	0	0	0	1	0	0	0	12086	623	22	1	2135	1	PLG	6	161162389	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10031798	161162389	9952678	92	5730										
T	6862	broad.mit.edu	37	chr6	166580170	166580170	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccccgaagttgggcgagtcGgggtggatgtagacgcagct	18	9	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.chr6:166580170G>T	ENST00000296946.2	-	3	849	c.381C>A	c.(379-381)ccC>ccA	p.P127P	T_ENST00000366871.3_Silent_p.P127P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	127					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)		TGGGCGAGTCGGGGTGGATGT	0.652									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.(379-381)ccC>ccA		T, brachyury homolog (mouse)							52	58	56					6																	166580170		2203	4300	6503	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.chr6:166580170G>T	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.381C>A	6.37:g.166580170G>T			Somatic				T_ENST00000366871.3_Silent_p.P127P	p.P127P	NM_003181.3	NP_003172.1	WXS	Illumina GAIIx	Phase_I	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)	3	849	-		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)	127					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.381C>A	CCDS5290.1																																																																																				0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5	98	5	98	---	---	---	---	T	166580170	G	T	166580170	2	4	128	1	0	0	0	0	0	0	0	1	15485	1103	39	1		1	T	6	166580170	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	5417781	166580170	4534897	93	5731										
HEATR2	54919	broad.mit.edu	37	chr7	796443	796443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagatccgcagagctcgtcGggacgtttgtcagccctgag	13	13	1	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.chr7:796443G>T	ENST00000297440.6	+	6	1302	c.1282G>T	c.(1282-1284)Ggg>Tgg	p.G428W	HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	428						cytoplasm (GO:0005737)				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)		AGAGCTCGTCGGGACGTTTGT	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1282-1284)Ggg>Tgg		HEAT repeat containing 2							98	98	98					7																	796443		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:796443G>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.1282G>T	7.37:g.796443G>T	ENSP00000297440:p.Gly428Trp		Somatic				HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W	p.G428W	NM_017802.3	NP_060272.3	WXS	Illumina GAIIx	Phase_I	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	1302	+		Ovarian(82;0.0112)	428					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1282G>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.88|16.88	3.246037|3.246037	0.59103|0.59103	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000440747	T;T|.	0.69040|.	-0.37;-0.37|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83238|0.83238	0.5211|0.5211	M|M	0.85859|0.85859	2.78|2.78	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|D	0.84653|0.84653	0.0702|0.0702	10|5	0.87932|.	D|.	0|.	-56.5693|-56.5693	19.36|19.36	0.94432|0.94432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	428;174|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	W|L	428;428;174|229	ENSP00000297440:G428W;ENSP00000321451:G428W|.	ENSP00000297440:G428W|.	G|R	+|+	1|2	0|0	HEATR2|HEATR2	762969|762969	1.000000|1.000000	0.71417|0.71417	0.109000|0.109000	0.21407|0.21407	0.025000|0.025000	0.11179|0.11179	8.915000|8.915000	0.92740|0.92740	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		5	208	5	208	---	---	---	---	T	796443	G	T	796443	3	4	128	1	0	0	0	0	1	0	0	0	7028	1116	39	1	1304	1	HEATR2	7	796443	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		796443	158342220	94	5732										
C7orf27	221927	broad.mit.edu	37	chr7	2583464	2583464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacacgcgggccagtcacccCccggcaggcagggctgcccc	13	20	1	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.chr7:2583464C>A	ENST00000340611.4	-	5	819	c.563G>T	c.(562-564)gGg>gTg	p.G188V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	188					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						CCAGTCACCCCCCGGCAGGCA	0.662																																						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.(562-564)gGg>gTg		BRCA1-associated ATM activator 1							46	55	51					7																	2583464		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583464C>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.563G>T	7.37:g.2583464C>A	ENSP00000339637:p.Gly188Val		Somatic					p.G188V	NM_152743.3	NP_689956.2	WXS	Illumina GAIIx	Phase_I	Q6PJG6	BRAT1_HUMAN			5	819	-			188					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.563G>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327553	0.10956	.	.	ENSG00000106009	ENST00000340611	D	0.91686	-2.89	5.17	-5.95	0.02241	Armadillo-type fold (1);	1.091950	0.06795	N	0.787656	T	0.81673	0.4872	N	0.22421	0.69	0.09310	N	1	B;B	0.17852	0.01;0.024	B;B	0.14578	0.011;0.005	T	0.66520	-0.5903	10	0.40728	T	0.16	0.0356	3.1687	0.06545	0.0961:0.1383:0.3399:0.4258	.	188;188	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	V	188	ENSP00000339637:G188V	ENSP00000339637:G188V	G	-	2	0	BRAT1	2549990	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.055000	0.14229	-1.074000	0.03132	0.655000	0.94253	GGG		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		6	93	6	93	---	---	---	---	A	2583464	C	A	2583464	3	1	128	1	0	0	0	0	1	0	0	0	2382	623	22	1	1942	1	C7orf27	7	2583464	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1787021	2583464	156555199	95	5733										
THSD7A	221981	broad.mit.edu	37	chr7	11514043	11514043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacagagcaggaggcctcccCattccaagtcgtagttgtgt	12	11	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.chr7:11514043C>A	ENST00000423059.4	-	8	2421	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	724	TSP type-1 7. {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)		GAGGCCTCCCCATTCCAAGTC	0.517										HNSCC(18;0.044)																												ENST00000423059.4																			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.(2170-2172)Ggg>Tgg		thrombospondin, type I, domain containing 7A							99	98	99					7																	11514043		2031	4198	6229	SO:0001583	missense	221981					integral to membrane		g.chr7:11514043C>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.2170G>T	7.37:g.11514043C>A	ENSP00000406482:p.Gly724Trp	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.G724W	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2421	-						TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2170G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076592	0.55753	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60171	0.21	5.55	3.63	0.41609	.	0.328852	0.36932	N	0.002333	T	0.64800	0.2631	L	0.52573	1.65	0.42466	D	0.992808	D	0.55605	0.972	P	0.61201	0.885	T	0.63980	-0.6514	10	0.38643	T	0.18	.	11.0879	0.48097	0.0:0.8012:0.1289:0.0699	.	724	Q9UPZ6	THS7A_HUMAN	W	724	ENSP00000406482:G724W	ENSP00000262042:G724W	G	-	1	0	THSD7A	11480568	0.040000	0.19996	0.997000	0.53966	0.587000	0.36485	2.431000	0.44775	1.478000	0.48253	0.563000	0.77884	GGG		0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	109	5	109	---	---	---	---	A	11514043	C	A	11514043	3	1	128	1	0	0	0	0	1	0	0	0	15876	594	21	1	2883	1	THSD7A	7	11514043	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8930579	11514043	147624620	96	5734										
NFE2L3	9603	broad.mit.edu	37	chr7	26225294	26225294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaggtaggccagtcaatcCcaaccactatgctctccagt	7	15	2	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.chr7:26225294C>A	ENST00000056233.3	+	4	2235	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	659					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						CCAGTCAATCCCAACCACTAT	0.403																																						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.(1975-1977)cCc>cAc		nuclear factor, erythroid 2-like 3							100	98	99					7																	26225294		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.chr7:26225294C>A	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.1976C>A	7.37:g.26225294C>A	ENSP00000056233:p.Pro659His		Somatic					p.P659H	NM_004289.6	NP_004280.5	WXS	Illumina GAIIx	Phase_I	Q9Y4A8	NF2L3_HUMAN			4	2235	+			659					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1976C>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937131	0.52972	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.39056	1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.87547	2.89	0.54753	D	0.99998	D	0.89917	1.0	D	0.75484	0.986	T	0.73350	-0.4010	10	0.87932	D	0	-14.7513	13.8747	0.63645	0.0:0.9263:0.0:0.0737	.	659	Q9Y4A8	NF2L3_HUMAN	H	659;364	ENSP00000056233:P659H	ENSP00000056233:P659H	P	+	2	0	NFE2L3	26191819	0.362000	0.24980	1.000000	0.80357	0.567000	0.35839	2.096000	0.41738	2.738000	0.93877	0.591000	0.81541	CCC		0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	78	5	78	---	---	---	---	A	26225294	C	A	26225294	3	1	128	1	0	0	0	0	1	0	0	0	10369	623	22	1	1990	1	NFE2L3	7	26225294	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	14711251	26225294	132913369	97	5735										
PLEKHA8	84725	broad.mit.edu	37	chr7	30084733	30084733	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggttccttctctgtgggGgaatattgtcctattatgat	11	6	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.chr7:30084733G>T	ENST00000449726.1	+	2	423	c.73G>T	c.(73-75)Gga>Tga	p.G25*	PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	25	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TCTCTGTGGGGGAATATTGTC	0.433																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(73-75)Gga>Tga		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							187	178	181					7																	30084733		2203	4300	6503	SO:0001587	stop_gained	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30084733G>T	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.73G>T	7.37:g.30084733G>T	ENSP00000397947:p.Gly25*		Somatic				PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25*	p.G25*	NM_001197027.1	NP_001183956.1	WXS	Illumina GAIIx	Phase_I	Q96JA3	PKHA8_HUMAN			2	423	+			25			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Nonsense_Mutation	SNP	ENST00000449726.1	37	c.73G>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	40	8.028764	0.98619	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.3113	17.6179	0.88072	0.0:0.0:1.0:0.0	.	.	.	.	X	25;25;25;25;51	.	ENSP00000258679:G25X	G	+	1	0	PLEKHA8	30051258	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.835000	0.99442	2.506000	0.84524	0.561000	0.74099	GGA		0.433	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		7	162	7	162	---	---	---	---	T	30084733	G	T	30084733	4	4	128	1	0	0	0	0	0	1	0	0	12062	1233	43	1	79	1	PLEKHA8	7	30084733	Nonsense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3859439	30084733	129053930	98	5736										
DDC	1644	broad.mit.edu	37	chr7	50595942	50595942	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggcttttaatttcactcCaccaattaacccagctcttt	4	12	2	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.chr7:50595942C>A	ENST00000444124.2	-	6	807	c.607G>T	c.(607-609)Gga>Tga	p.G203*	DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203*|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					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)	AATTTCACTCCACCAATTAAC	0.532																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(607-609)Gga>Tga		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)						110	111	111					7																	50595942		2203	4300	6503	SO:0001587	stop_gained	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595942C>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.607G>T	7.37:g.50595942C>A	ENSP00000403644:p.Gly203*		Somatic				DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203*	p.G203*	NM_001082971.1	NP_001076440	WXS	Illumina GAIIx	Phase_I	P20711	DDC_HUMAN			6	807	-	Glioma(55;0.08)|all_neural(89;0.245)		203					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	ENST00000444124.2	37	c.607G>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328890	0.95733	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.	.	.	6.06	6.06	0.98353	.	0.100889	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.53	19.3958	0.94607	0.0:1.0:0.0:0.0	.	.	.	.	X	203;125;203;203	.	ENSP00000350616:G203X	G	-	1	0	DDC	50563436	1.000000	0.71417	0.991000	0.47740	0.701000	0.40568	6.945000	0.75947	2.879000	0.98667	0.650000	0.86243	GGA		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			7	134	7	134	---	---	---	---	A	50595942	C	A	50595942	4	1	128	1	0	0	0	0	0	1	0	0	4325	603	21	1	871	1	DDC	7	50595942	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20511209	50595942	108542721	99	5737										
DDC	1644	broad.mit.edu	37	chr7	50611679	50611679	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcagcggccgcaggtacccGggctccacgtcagggtagac	14	14	2	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.chr7:50611679G>T	ENST00000444124.2	-	2	305	c.105C>A	c.(103-105)ccC>ccA	p.P35P	DDC_ENST00000357936.5_Silent_p.P35P|DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000431062.1_Silent_p.P35P|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000380984.4_Silent_p.P35P	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	35					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)	GCAGGTACCCGGGCTCCACGT	0.567																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(103-105)ccC>ccA		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)						208	170	183					7																	50611679		2203	4300	6503	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.chr7:50611679G>T		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.105C>A	7.37:g.50611679G>T			Somatic				DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000431062.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|DDC_ENST00000380984.4_Silent_p.P35P	p.P35P	NM_001082971.1	NP_001076440	WXS	Illumina GAIIx	Phase_I	P20711	DDC_HUMAN			2	305	-	Glioma(55;0.08)|all_neural(89;0.245)		35					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.105C>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	3.794	-0.043070	0.07452	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.92	-11.8	0.00035	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67941	-0.5540	5	.	.	.	-0.4102	10.6976	0.45907	0.3456:0.0:0.4699:0.1845	.	.	.	.	Q	1	.	.	P	-	2	0	DDC	50579173	0.000000	0.05858	0.496000	0.27539	0.295000	0.27426	-3.662000	0.00400	-2.009000	0.00954	-1.708000	0.00717	CCG		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			6	226	6	226	---	---	---	---	T	50611679	G	T	50611679	2	4	128	1	0	0	0	0	0	0	0	1	4325	1103	39	1		1	DDC	7	50611679	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	15737	50611679	108526984	100	5738										
EIF4H	7458	broad.mit.edu	37	chr7	73609077	73609077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttcttcctcaggcttcaGggatgacttcttagggggca	12	9	4	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.chr7:73609077G>T	ENST00000265753.8	+	6	615	c.476G>T	c.(475-477)aGg>aTg	p.R159M	EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	159					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)			endometrium(1)|lung(2)|prostate(1)	4						TCAGGCTTCAGGGATGACTTC	0.527																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(475-477)aGg>aTg		eukaryotic translation initiation factor 4H							85	99	94					7																	73609077		2203	4299	6502	SO:0001583	missense	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.chr7:73609077G>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.476G>T	7.37:g.73609077G>T	ENSP00000265753:p.Arg159Met		Somatic				EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M|EIF4H_ENST00000495187.1_3'UTR	p.R159M	NM_022170.1	NP_071496.1	WXS	Illumina GAIIx	Phase_I	Q15056	IF4H_HUMAN			6	615	+			159					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.476G>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334793	0.41297	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.76060	1.19;-0.99	5.14	4.13	0.48395	.	0.120468	0.56097	D	0.000037	T	0.68787	0.3039	L	0.54323	1.7	0.35185	D	0.772879	B;P	0.34462	0.327;0.454	B;B	0.41088	0.347;0.188	T	0.73836	-0.3857	10	0.42905	T	0.14	-13.0911	4.7405	0.13010	0.219:0.0:0.781:0.0	.	139;159	Q15056-2;Q15056	.;IF4H_HUMAN	M	159;139	ENSP00000265753:R159M;ENSP00000265754:R139M	ENSP00000265753:R159M	R	+	2	0	EIF4H	73247013	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	1.327000	0.33746	2.397000	0.81536	0.563000	0.77884	AGG		0.527	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		7	169	7	169	---	---	---	---	T	73609077	G	T	73609077	3	4	128	1	0	0	0	0	1	0	0	0	5039	1000	35	1	498	1	EIF4H	7	73609077	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	22997398	73609077	85529586	101	5739										
LMTK2	22853	broad.mit.edu	37	chr7	97822767	97822767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagccgtccctggaaacccCggactctctggagtcagtgg	13	13	2	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.chr7:97822767C>A	ENST00000297293.5	+	11	3283	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	997					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)					CTGGAAACCCCGGACTCTCTG	0.592																																						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.(2989-2991)cCg>cAg		lemur tyrosine kinase 2							94	103	100					7																	97822767		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.chr7:97822767C>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.2990C>A	7.37:g.97822767C>A	ENSP00000297293:p.Pro997Gln		Somatic					p.P997Q	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			11	3283	+	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)		997					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2990C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222270	0.58560	.	.	ENSG00000164715	ENST00000297293	D	0.97665	-4.48	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99572	1.0971	10	0.87932	D	0	.	17.9175	0.88955	0.0:1.0:0.0:0.0	.	997	Q8IWU2	LMTK2_HUMAN	Q	997	ENSP00000297293:P997Q	ENSP00000297293:P997Q	P	+	2	0	LMTK2	97660703	1.000000	0.71417	0.377000	0.26055	0.008000	0.06430	7.445000	0.80570	2.540000	0.85666	0.650000	0.86243	CCG		0.592	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	186	7	186	---	---	---	---	A	97822767	C	A	97822767	3	1	128	1	0	0	0	0	1	0	0	0	8859	652	23	1	3032	1	LMTK2	7	97822767	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	24213690	97822767	61315896	102	5740										
TRRAP	8295	broad.mit.edu	37	chr7	98565107	98565107	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctctgacttggtgttacaGggatgagaccctctctggca	12	10	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.chr7:98565107G>T	ENST00000359863.4	+	50	7486		c.e50-1		TRRAP_ENST00000446306.3_Splice_Site|TRRAP_ENST00000355540.3_Splice_Site	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						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)			TGGTGTTACAGGGATGAGACC	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.e50-1		transformation/transcription domain-associated protein							62	57	59					7																	98565107		2203	4300	6503	SO:0001630	splice_region_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.chr7:98565107G>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.7278-1G>T	7.37:g.98565107G>T			Somatic				TRRAP_ENST00000355540.3_Splice_Site|TRRAP_ENST00000446306.3_Splice_Site		NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7486	+	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)							A4D265|O75218|Q9Y631|Q9Y6H4	Splice_Site	SNP	ENST00000359863.4	37		CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902944	0.92035	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306;ENST00000456197	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRRAP	98403043	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	.		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Intron	5	66	5	66	---	---	---	---	T	98565107	G	T	98565107	5	4	128	1	0	0	0	0	0	0	1	0	16598	1014	35	1	7413	1	TRRAP	7	98565107	Splice_Site	SNP	G	TCGA-G9-6342-01A-11D-1961-08	742340	98565107	60573556	103	5741										
FLNC	2318	broad.mit.edu	37	chr7	128486957	128486957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcggggggcggcccatccCaggtgtgcagagagagtggt	18	10	0	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.chr7:128486957C>A	ENST00000325888.8	+	24	4547	c.4286C>A	c.(4285-4287)cCa>cAa	p.P1429Q	FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1429					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						CGGCCCATCCCAGGTGTGCAG	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.(4285-4287)cCa>cAa		filamin C, gamma							56	58	57					7																	128486957		1961	4162	6123	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486957C>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.4286C>A	7.37:g.128486957C>A	ENSP00000327145:p.Pro1429Gln		Somatic				FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q	p.P1429Q	NM_001458.4	NP_001449.3	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			24	4547	+			1429					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4286C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966880	0.92855	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.69	4.69	0.59074	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94341	0.7570	10	0.87932	D	0	.	17.9815	0.89143	0.0:1.0:0.0:0.0	.	1429;1429	Q14315-2;Q14315	.;FLNC_HUMAN	Q	1429	ENSP00000327145:P1429Q;ENSP00000344002:P1429Q	ENSP00000327145:P1429Q	P	+	2	0	FLNC	128274193	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.567000	0.82357	2.323000	0.78572	0.561000	0.74099	CCA		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	76	5	76	---	---	---	---	A	128486957	C	A	128486957	3	1	128	1	0	0	0	0	1	0	0	0	5935	594	21	1	4380	1	FLNC	7	128486957	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	29921850	128486957	30651706	104	5742										
HR	55806	broad.mit.edu	37	chr8	21986433	21986433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccagttgaccttcctctccCcattctgggggccctcgccc	9	19	2	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.chr8:21986433C>A	ENST00000381418.4	-	2	1731	c.251G>T	c.(250-252)gGg>gTg	p.G84V	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.G84V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	84					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)		CTTCCTCTCCCCATTCTGGGG	0.667																																						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.(250-252)gGg>gTg		hair growth associated							51	51	51					8																	21986433		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986433C>A	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.251G>T	8.37:g.21986433C>A	ENSP00000370826:p.Gly84Val		Somatic				HR_ENST00000312841.8_Missense_Mutation_p.G84V	p.G84V	NM_005144.4	NP_005135.2	WXS	Illumina GAIIx	Phase_I	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)	2	1731	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	84					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.251G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612864	0.66672	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.78924	-1.2;-1.22	4.8	3.9	0.45041	.	0.000000	0.46145	D	0.000311	T	0.80544	0.4643	L	0.34521	1.04	0.51233	D	0.999913	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.81278	-0.1005	10	0.87932	D	0	-20.6044	10.0143	0.42006	0.2013:0.7987:0.0:0.0	.	84;84;84	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	V	84	ENSP00000370826:G84V;ENSP00000326765:G84V	ENSP00000326765:G84V	G	-	2	0	HR	22042378	0.993000	0.37304	0.979000	0.43373	0.979000	0.70002	1.717000	0.37991	1.201000	0.43203	0.561000	0.74099	GGG		0.667	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	66	5	66	---	---	---	---	A	21986433	C	A	21986433	3	1	128	1	0	0	0	0	1	0	0	0	7347	623	22	1	3390	1	HR	8	21986433	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		21986433	124377589	105	5743										
RHOBTB2	23221	broad.mit.edu	37	chr8	22865544	22865544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgatggcaccatcagcgccCacaagcccctgttgatttcc	8	15	1	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.chr8:22865544C>A	ENST00000251822.6	+	6	2077	c.1540C>A	c.(1540-1542)Cac>Aac	p.H514N	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	514	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		CATCAGCGCCCACAAGCCCCT	0.562																																						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.(1540-1542)Cac>Aac		Rho-related BTB domain containing 2							69	69	69					8																	22865544		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22865544C>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.1540C>A	8.37:g.22865544C>A	ENSP00000251822:p.His514Asn		Somatic				RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N	p.H514N	NM_015178.2	NP_055993.2	WXS	Illumina GAIIx	Phase_I	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	2077	+		Prostate(55;0.0513)|Breast(100;0.214)	514			BTB 2.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.1540C>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448497	0.84101	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.79141	-1.24;-1.24;-1.24	4.99	4.99	0.66335	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.75020	0.977;0.985;0.985	D	0.91079	0.4898	10	0.54805	T	0.06	.	16.8517	0.85996	0.0:1.0:0.0:0.0	.	521;514;536	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	N	536;521;514	ENSP00000427926:H536N;ENSP00000429141:H521N;ENSP00000251822:H514N	ENSP00000251822:H514N	H	+	1	0	RHOBTB2	22921489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.290000	0.77057	0.655000	0.94253	CAC		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			5	76	5	76	---	---	---	---	A	22865544	C	A	22865544	3	1	128	1	0	0	0	0	1	0	0	0	13334	594	21	1	1643	1	RHOBTB2	8	22865544	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	879111	22865544	123498478	106	5744										
PRKDC	5591	broad.mit.edu	37	chr8	48771540	48771540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcatgcaccgtggggtccCgctgctcctgcgaaagggag	14	13	1	0	rs373126381		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.chr8:48771540C>A	ENST00000314191.2	-	48	6268	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2072					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)	CGTGGGGTCCCGCTGCTCCTG	0.602								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.(6211-6213)cGg>cTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							99	104	103					8																	48771540		2185	4285	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.chr8:48771540C>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.6212G>T	8.37:g.48771540C>A	ENSP00000313420:p.Arg2071Leu		Somatic				PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L|PRKDC_ENST00000523565.1_5'UTR	p.R2071L	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			48	6268	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2072					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6212G>T		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813498	0.32053	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.27720	1.65;1.65	5.61	-4.03	0.04021	NUC194 (1);Armadillo-type fold (1);	0.768834	0.12607	N	0.454190	T	0.14227	0.0344	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.002	B;B	0.21917	0.037;0.017	T	0.21965	-1.0230	10	0.30854	T	0.27	.	2.4355	0.04482	0.1185:0.2433:0.399:0.2391	.	2071;2072	E7EUY0;P78527	.;PRKDC_HUMAN	L	2071	ENSP00000313420:R2071L;ENSP00000345182:R2071L	ENSP00000313420:R2071L	R	-	2	0	PRKDC	48934093	0.003000	0.15002	0.000000	0.03702	0.031000	0.12232	0.823000	0.27366	-0.150000	0.11195	-0.459000	0.05422	CGG		0.602	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	207	6	207	---	---	---	---	A	48771540	C	A	48771540	3	1	128	1	0	0	0	0	1	0	0	0	12521	652	23	1	6331	1	PRKDC	8	48771540	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	25905996	48771540	97592482	107	5745										
KCNB2	9312	broad.mit.edu	37	chr8	73849836	73849836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacttttcgctcactacccCgcagcacatcagtaccatcc	5	17	2	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.chr8:73849836C>A	ENST00000523207.1	+	3	2834	c.2246C>A	c.(2245-2247)cCg>cAg	p.P749Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	749					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)	CTCACTACCCCGCAGCACATC	0.557																																						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.(2245-2247)cCg>cAg		potassium voltage-gated channel, Shab-related subfamily, member 2							106	112	110					8																	73849836		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.chr8:73849836C>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.2246C>A	8.37:g.73849836C>A	ENSP00000430846:p.Pro749Gln		Somatic					p.P749Q	NM_004770.2	NP_004761.2	WXS	Illumina GAIIx	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2834	+	Breast(64;0.137)		749					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2246C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	8.391	0.839722	0.16891	.	.	ENSG00000182674	ENST00000523207	T	0.23348	1.91	5.04	5.04	0.67666	.	1.995190	0.03050	N	0.154511	T	0.43389	0.1245	L	0.46157	1.445	0.45648	D	0.998573	P	0.46395	0.877	P	0.53224	0.721	T	0.03728	-1.1009	10	0.56958	D	0.05	.	13.5179	0.61551	0.1559:0.844:0.0:0.0	.	749	Q92953	KCNB2_HUMAN	Q	749	ENSP00000430846:P749Q	ENSP00000430846:P749Q	P	+	2	0	KCNB2	74012390	1.000000	0.71417	0.119000	0.21687	0.185000	0.23345	5.062000	0.64326	2.602000	0.87976	0.591000	0.81541	CCG		0.557	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	205	9	205	---	---	---	---	A	73849836	C	A	73849836	3	1	128	1	0	0	0	0	1	0	0	0	8013	652	23	1	2252	1	KCNB2	8	73849836	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	25078296	73849836	72514186	108	5746										
CDH17	1015	broad.mit.edu	37	chr8	95183129	95183129	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgagtcacgtaaatatctcCttcctggtcaattgaaaatg	7	9	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.chr8:95183129C>A	ENST00000027335.3	-	8	992	c.868G>T	c.(868-870)Gga>Tga	p.G290*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290*|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	290	Cadherin 3. {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)			TAAATATCTCCTTCCTGGTCA	0.468																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(868-870)Gga>Tga		cadherin 17, LI cadherin (liver-intestine)							153	149	150					8																	95183129		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95183129C>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.868G>T	8.37:g.95183129C>A	ENSP00000027335:p.Gly290*		Somatic				CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290*	p.G290*	NM_004063.3	NP_004054.3	WXS	Illumina GAIIx	Phase_I	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		8	992	-	Breast(36;4.65e-06)		290			Cadherin 3.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.868G>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	39	7.357197	0.98235	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	.	.	.	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.442	17.8824	0.88844	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000027335:G290X	G	-	1	0	CDH17	95252305	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.070000	0.64376	2.810000	0.96702	0.650000	0.86243	GGA		0.468	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		6	167	6	167	---	---	---	---	A	95183129	C	A	95183129	4	1	128	1	0	0	0	0	0	1	0	0	3102	690	24	1	1674	1	CDH17	8	95183129	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	21333293	95183129	51180893	109	5747										
RRM2B	50484	broad.mit.edu	37	chr8	103231175	103231175	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaggccaccactctttccCctgggagacataaaatcgtt	7	13	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.chr8:103231175C>A	ENST00000251810.3	-	6	794	c.551G>T	c.(550-552)gGg>gTg	p.G184V	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	184					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)		Cladribine(DB00242)	CACTCTTTCCCCTGGGAGACA	0.363								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(550-552)gGg>gTg	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							99	106	104					8																	103231175		2203	4300	6503	SO:0001630	splice_region_variant	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103231175C>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.551-1G>T	8.37:g.103231175C>A			Somatic				RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519317.1_Intron	p.G184V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	WXS	Illumina GAIIx	Phase_I	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		6	794	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		184					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Splice_Site	SNP	ENST00000251810.3	37	c.551G>T	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033446|4.033446	0.75504|0.75504	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912|ENST00000522368	D;D|.	0.97089|.	-4.24;-4.24|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);|.	0.097223|.	0.64402|.	D|.	0.000001|.	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	P;P|.	0.52316|.	0.547;0.952|.	B;P|.	0.56960|.	0.423;0.81|.	D|D	0.85629|0.85629	0.1269|0.1269	10|5	0.87932|.	D|.	0|.	.|.	18.8628|18.8628	0.92280|0.92280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;184|.	Q7LG56-2;Q7LG56|.	.;RIR2B_HUMAN|.	V|C	184;130;132|240	ENSP00000251810:G184V;ENSP00000379248:G132V|.	ENSP00000251810:G184V|.	G|W	-|-	2|3	0|0	RRM2B|RRM2B	103300351|103300351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.905000|4.905000	0.63286|0.63286	2.441000|2.441000	0.82636|0.82636	0.557000|0.557000	0.71058|0.71058	GGG|TGG		0.363	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		Missense_Mutation	10	155	10	155	---	---	---	---	A	103231175	C	A	103231175	5	1	128	1	0	0	0	0	0	0	1	0	13683	637	22	1	520	1	RRM2B	8	103231175	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8048046	103231175	43132847	110	5748										
DDX58	23586	broad.mit.edu	37	chr9	32467791	32467791	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcattttgatgacattgccCacatactcataaaggatgac	6	9	2	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.chr9:32467791C>A	ENST00000379883.2	-	15	2311	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	DDX58_ENST00000542096.1_Silent_p.V647V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000379882.1_Silent_p.V673V|DDX58_ENST00000545044.1_Silent_p.V515V	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	718	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|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)		TGACATTGCCCACATACTCAT	0.403																																						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.(2017-2019)gtG>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							181	150	161					9																	32467791		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.chr9:32467791C>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.2154G>T	9.37:g.32467791C>A			Somatic				DDX58_ENST00000379883.2_Silent_p.V718V|DDX58_ENST00000545044.1_Silent_p.V515V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000542096.1_Silent_p.V647V	p.V673V			WXS	Illumina GAIIx	Phase_I	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	14	2176	-			718			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.2019G>T	CCDS6526.1																																																																																				0.403	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		5	85	5	85	---	---	---	---	A	32467791	C	A	32467791	2	1	128	1	0	0	0	0	0	0	0	1	4375	581	21	1		1	DDX58	9	32467791	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08		32467791	108745640	111	5749										
KIF24	347240	broad.mit.edu	37	chr9	34310909	34310909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgtttttgtatggtactGggaatcatctggtagcatgt	11	6	2	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.chr9:34310909G>T	ENST00000402558.2	-	1	460	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000379166.2_Missense_Mutation_p.Q146K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	146					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)			GTATGGTACTGGGAATCATCT	0.398																																						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.(436-438)Cag>Aag		kinesin family member 24							196	190	192					9																	34310909		1901	4134	6035	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34310909G>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.436C>A	9.37:g.34310909G>T	ENSP00000384433:p.Gln146Lys		Somatic				KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000402558.2_Missense_Mutation_p.Q146K	p.Q146K	NM_194313.2	NP_919289.2	WXS	Illumina GAIIx	Phase_I	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		2	555	-			146					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.436C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347605	0.41599	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.71222	-0.38;-0.55;-0.38;-0.55	5.48	4.57	0.56435	.	0.194639	0.25692	N	0.028940	T	0.68100	0.2964	L	0.56769	1.78	0.23802	N	0.99681	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.62324	-0.6878	10	0.59425	D	0.04	.	15.4048	0.74868	0.0:0.3285:0.6715:0.0	.	146;146	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	K	146	ENSP00000384433:Q146K;ENSP00000368472:Q146K;ENSP00000368464:Q146K;ENSP00000340179:Q146K	ENSP00000340179:Q146K	Q	-	1	0	KIF24	34300909	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	4.609000	0.61148	1.300000	0.44818	0.650000	0.86243	CAG		0.398	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			7	225	7	225	---	---	---	---	T	34310909	G	T	34310909	3	4	128	1	0	0	0	0	1	0	0	0	8292	1357	47	1	3718	1	KIF24	9	34310909	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1843118	34310909	106902522	112	5750										
PTPDC1	138639	broad.mit.edu	37	chr9	96850149	96850149	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggccatggcccgcccatcCtctgagctcctggagaagta	11	15	1	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.chr9:96850149C>A	ENST00000375360.3	+	4	631	c.291C>A	c.(289-291)tcC>tcA	p.S97S	PTPDC1_ENST00000288976.3_Silent_p.S149S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	97					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						CCCGCCCATCCTCTGAGCTCC	0.463																																						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.(289-291)tcC>tcA		protein tyrosine phosphatase domain containing 1							168	154	158					9																	96850149		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96850149C>A	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.291C>A	9.37:g.96850149C>A			Somatic				PTPDC1_ENST00000288976.3_Silent_p.S149S	p.S97S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			4	631	+			97					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.291C>A	CCDS6707.1																																																																																				0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		7	160	7	160	---	---	---	---	A	96850149	C	A	96850149	2	1	128	1	0	0	0	0	0	0	0	1	12773	668	24	1		1	PTPDC1	9	96850149	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	62539240	96850149	44363282	113	5751										
ADAMTS13	11093	broad.mit.edu	37	chr9	136307563	136307563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatggcaacctcacccgccCagacatcaccttcacctact	5	18	3	1	rs281875295		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.chr9:136307563C>A	ENST00000371929.3	+	17	2456	c.2012C>A	c.(2011-2013)cCa>cAa	p.P671Q	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	671	Spacer.		P -> L (in TTP; dbSNP:rs281875295). {ECO:0000269|PubMed:16807643}.		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)		CTCACCCGCCCAGACATCACC	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	GRCh37	CM062408	ADAMTS13	M		c.(2011-2013)cCa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							113	92	99					9																	136307563		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.chr9:136307563C>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.2012C>A	9.37:g.136307563C>A	ENSP00000360997:p.Pro671Gln		Somatic				ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron	p.P671Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina GAIIx	Phase_I	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	17	2456	+			671			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2012C>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879136	0.51801	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.69685	-0.42;-0.41;-0.4	5.24	5.24	0.73138	.	.	.	.	.	D	0.85673	0.5751	M	0.91300	3.195	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	0.88581	0.3136	9	0.62326	D	0.03	.	17.3933	0.87439	0.0:1.0:0.0:0.0	.	671;640;671	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	671;671;640	ENSP00000360997:P671Q;ENSP00000347927:P671Q;ENSP00000348997:P640Q	ENSP00000347927:P671Q	P	+	2	0	ADAMTS13	135297384	0.987000	0.35691	0.077000	0.20336	0.102000	0.19082	5.463000	0.66712	2.448000	0.82819	0.591000	0.81541	CCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		6	107	6	107	---	---	---	---	A	136307563	C	A	136307563	3	1	128	1	0	0	0	0	1	0	0	0	258	594	21	1	2078	1	ADAMTS13	9	136307563	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	39457414	136307563	4905868	114	5752										
APBB1IP	54518	broad.mit.edu	37	chr10	26800829	26800829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaaatctacccggaactaCaaattggtaagtcccatccc	6	12	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.chr10:26800829C>A	ENST00000376236.4	+	7	1140	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	229	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						CCCGGAACTACAAATTGGTAA	0.433																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(685-687)Caa>Aaa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							95	95	95					10																	26800829		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26800829C>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.685C>A	10.37:g.26800829C>A	ENSP00000365411:p.Gln229Lys		Somatic					p.Q229K	NM_019043.3	NP_061916.3	WXS	Illumina GAIIx	Phase_I	Q7Z5R6	AB1IP_HUMAN			7	1140	+			229			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.685C>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417031	0.83449	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16597	2.33	5.65	5.65	0.86999	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.65975	2.015	0.80722	D	1	P;D	0.65815	0.888;0.995	P;D	0.66196	0.824;0.942	T	0.02345	-1.1173	10	0.30078	T	0.28	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	229;229	B4E100;Q7Z5R6	.;AB1IP_HUMAN	K	229	ENSP00000365411:Q229K	ENSP00000365411:Q229K	Q	+	1	0	APBB1IP	26840835	1.000000	0.71417	0.335000	0.25508	0.673000	0.39480	5.651000	0.67951	2.661000	0.90470	0.655000	0.94253	CAA		0.433	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		5	101	5	101	---	---	---	---	A	26800829	C	A	26800829	3	1	128	1	0	0	0	0	1	0	0	0	760	479	17	3	703	3	APBB1IP	10	26800829	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		26800829	108733918	115	5753										
CCDC7	79741	broad.mit.edu	37	chr10	32833174	32833174	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaaaacattttatgttacaGgaagatgtctccagaaaaag	7	5	1	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.chr10:32833174G>T	ENST00000362006.5	+	14	1622		c.e14-1		C10orf68_ENST00000572165.1_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTATGTTACAGGAAGATGTCT	0.294																																						ENST00000362006.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.e14-1		coiled-coil domain containing 7							66	70	69					10																	32833174		2203	4289	6492	SO:0001630	splice_region_variant	221016							g.chr10:32833174G>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.1080-1G>T	10.37:g.32833174G>T			Somatic				CCDC7_ENST00000277657.6_Splice_Site|C10orf68_ENST00000572165.1_Splice_Site		NM_145023.4	NP_659460.3	WXS	Illumina GAIIx	Phase_I	Q96M83	CCDC7_HUMAN			14	1622	+		Breast(68;0.000207)|Prostate(175;0.0107)						Q5VW55|Q8IVQ0|Q8NEQ0	Splice_Site	SNP	ENST00000362006.5	37		CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344893	0.24426	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.39433	D	0.967119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.151	0.42794	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC7	32873180	1.000000	0.71417	0.103000	0.21229	0.290000	0.27261	2.978000	0.49305	2.082000	0.62665	0.650000	0.86243	.		0.294	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	Intron	5	97	5	97	---	---	---	---	T	32833174	G	T	32833174	5	4	128	1	0	0	0	0	0	0	1	0	2842	1014	35	1	1129	1	CCDC7	10	32833174	Splice_Site	SNP	G	TCGA-G9-6342-01A-11D-1961-08	6032345	32833174	102701573	116	5754										
ZNF248	57209	broad.mit.edu	37	chr10	38120875	38120875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgtggcagaaggatttccCacatgcattacattcatagg	9	9	2	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.chr10:38120875C>A	ENST00000395867.3	-	6	1958	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	470					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)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAGGATTTCCCACATGCATTA	0.433																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1408-1410)Ggg>Tgg		zinc finger protein 248							143	138	140					10																	38120875		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120875C>A	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"Zinc fingers, C2H2-type", "-"	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1408G>T	10.37:g.38120875C>A	ENSP00000379208:p.Gly470Trp		Somatic				ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	p.G470W	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	WXS	Illumina GAIIx	Phase_I	Q8NDW4	ZN248_HUMAN			6	1958	-			470					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1408G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424231	0.43020	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.01051	5.4;5.4	4.44	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.133058	0.35067	N	0.003474	T	0.06234	0.0161	M	0.85859	2.78	0.30131	N	0.80478	D	0.89917	1.0	D	0.79784	0.993	T	0.01256	-1.1404	10	0.87932	D	0	.	8.5541	0.33469	0.0:0.8068:0.0:0.1932	.	470	Q8NDW4	ZN248_HUMAN	W	470	ENSP00000379208:G470W;ENSP00000349882:G470W	ENSP00000349882:G470W	G	-	1	0	ZNF248	38160881	0.969000	0.33509	0.998000	0.56505	0.764000	0.43329	2.216000	0.42871	0.603000	0.29913	0.650000	0.86243	GGG		0.433	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		6	116	6	116	---	---	---	---	A	38120875	C	A	38120875	3	1	128	1	0	0	0	0	1	0	0	0	17790	594	21	1	335	1	ZNF248	10	38120875	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5287701	38120875	97413872	117	5755										
UNC5B	219699	broad.mit.edu	37	chr10	73050841	73050841	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgactggtggtttccacccCgtcaactttaagacggcaag	10	12	1	2	rs373608708		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.chr10:73050841C>A	ENST00000335350.6	+	9	1685	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	UNC5B_ENST00000373192.4_Silent_p.P412P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	423					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						GTTTCCACCCCGTCAACTTTA	0.597																																						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.(1267-1269)ccC>ccA		unc-5 homolog B (C. elegans)							212	202	206					10																	73050841		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050841C>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.1269C>A	10.37:g.73050841C>A			Somatic				UNC5B_ENST00000373192.4_Silent_p.P412P	p.P423P	NM_170744.4	NP_734465.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ1	UNC5B_HUMAN			9	1685	+			423					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.1269C>A	CCDS7309.1																																																																																				0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	279	7	279	---	---	---	---	A	73050841	C	A	73050841	2	1	128	1	0	0	0	0	0	0	0	1	16989	639	23	1		1	UNC5B	10	73050841	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	34929966	73050841	62483906	118	5756										
ZMIZ1	57178	broad.mit.edu	37	chr10	81050862	81050862	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctcagccaaggctggcccCgctcagccctacatccagca	8	18	2	0	rs149025019	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.chr10:81050862C>A	ENST00000334512.5	+	10	1259	c.687C>A	c.(685-687)ccC>ccA	p.P229P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	229					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)			AGGCTGGCCCCGCTCAGCCCT	0.672																																						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.(685-687)ccC>ccA		zinc finger, MIZ-type containing 1							65	58	61					10																	81050862		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050862C>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.687C>A	10.37:g.81050862C>A			Somatic				ZMIZ1_ENST00000478357.1_3'UTR	p.P229P	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1259	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		229					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.687C>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553882	0.13374	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	5	0.06365	T	0.9	-10.6405	3.7989	0.08750	0.0814:0.2116:0.3141:0.3929	.	.	.	.	S	161	.	ENSP00000361422:R161S	R	+	1	0	ZMIZ1	80720868	0.013000	0.17824	0.000000	0.03702	0.711000	0.40976	-1.018000	0.03626	-3.951000	0.00088	-2.486000	0.00196	CGC		0.672	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	79	5	79	---	---	---	---	A	81050862	C	A	81050862	2	1	128	1	0	0	0	0	0	0	0	1	17693	639	23	1		1	ZMIZ1	10	81050862	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8000021	81050862	54483885	119	5757										
XPNPEP1	7511	broad.mit.edu	37	chr10	111633186	111633186	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacatctgtggtgccatccCtttccaaaaaaaggacaaat	6	11	2	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.chr10:111633186C>A	ENST00000502935.1	-	16	1511		c.e16-1		XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site|XPNPEP1_ENST00000322238.8_Splice_Site					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGTGCCATCCCTTTCCAAAAA	0.458																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.e16-1		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							143	126	132					10																	111633186		2203	4300	6503	SO:0001630	splice_region_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111633186C>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1392-1G>T	10.37:g.111633186C>A			Somatic				XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	16	1511	-		Breast(234;0.174)							Splice_Site	SNP	ENST00000502935.1	37		CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722856	0.89298	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XPNPEP1	111623176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	2.861000	0.98227	0.655000	0.94253	.		0.458	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		Intron	5	113	5	113	---	---	---	---	A	111633186	C	A	111633186	5	1	128	1	0	0	0	0	0	0	1	0	17439	695	24	1	633	1	XPNPEP1	10	111633186	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08	30582324	111633186	23901561	120	5758										
LRRC27	80313	broad.mit.edu	37	chr10	134165144	134165144	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctccaggagcatcttaccCgacctcttgtcaccgtacca	6	17	3	0	rs199532296		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.chr10:134165144C>A	ENST00000368614.3	+	7	1065	c.960C>A	c.(958-960)ccC>ccA	p.P320P	LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P|LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000392638.2_Missense_Mutation_p.P352Q|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000475747.1_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	320								p.P320P(2)		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)		GCATCTTACCCGACCTCTTGT	0.502																																						ENST00000392638.2																			2	Substitution - coding silent(2)	p.P320P(2)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1054-1056)cCg>cAg		leucine rich repeat containing 27							154	169	164					10																	134165144		2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165144C>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.960C>A	10.37:g.134165144C>A			Somatic				LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368614.3_Silent_p.P320P	p.P352Q			WXS	Illumina GAIIx	Phase_I	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	1250	+		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.1055C>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968043	0.34754	.	.	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.20463	2.07;2.07	4.41	-8.83	0.00806	.	0.000000	0.56097	D	0.000035	T	0.29914	0.0748	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.57101	0.813	T	0.67933	-0.5542	9	0.59425	D	0.04	-21.2942	11.4033	0.49883	0.0:0.1072:0.4621:0.4307	.	352	Q9C0I9-3	.	Q	352	ENSP00000376413:P352Q;ENSP00000342641:P352Q	ENSP00000342641:P352Q	P	+	2	0	LRRC27	134015134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.400000	0.01049	-4.364000	0.00054	-0.258000	0.10820	CCG		0.502	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		9	244	9	244	---	---	---	---	A	134165144	C	A	134165144	2	1	128	1	0	0	0	0	0	0	0	1	8981	652	23	1		1	LRRC27	10	134165144	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	22531958	134165144	1369603	121	5759										
ST5	6764	broad.mit.edu	37	chr11	8737329	8737329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcctttctgaccagttccCactgcgcagggactggctgt	10	14	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.chr11:8737329C>A	ENST00000534127.1	-	9	2051	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W	ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000357665.1_Missense_Mutation_p.G556W|ST5_ENST00000530991.1_Missense_Mutation_p.G28W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	556					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)		GACCAGTTCCCACTGCGCAGG	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.(1666-1668)Ggg>Tgg		suppression of tumorigenicity 5							86	73	77					11																	8737329		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737329C>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.1666G>T	11.37:g.8737329C>A	ENSP00000433528:p.Gly556Trp		Somatic				ST5_ENST00000530991.1_Missense_Mutation_p.G28W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W|ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000357665.1_Missense_Mutation_p.G556W	p.G556W	NM_005418.3	NP_005409.3	WXS	Illumina GAIIx	Phase_I	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2051	-			556					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1666G>T	CCDS7791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.068885|4.068885	0.76301|0.76301	.|.	.|.	ENSG00000166444|ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196|ENST00000527510	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|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.397097|.	0.28940|.	N|.	0.013653|.	T|T	0.68403|0.68403	0.2997|0.2997	L|L	0.44542|0.44542	1.39|1.39	0.41178|0.41178	D|D	0.986214|0.986214	B;B;B|.	0.24618|.	0.024;0.01;0.107|.	B;B;B|.	0.22386|.	0.006;0.02;0.039|.	T|T	0.63655|0.63655	-0.6588|-0.6588	10|6	0.66056|0.31617	D|T	0.02|0.26	-22.5848|-22.5848	19.6192|19.6192	0.95649|0.95649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69;136;556|.	B4DDL8;P78524-2;P78524|.	.;.;ST5_HUMAN|.	W|L	136;556;556;28;556;69;136;28;166;28;28;45;28;136|129	ENSP00000435097:G136W;ENSP00000433528:G556W;ENSP00000319678:G556W;ENSP00000432887:G28W;ENSP00000350294:G556W;ENSP00000436808:G69W;ENSP00000436802:G136W;ENSP00000433588:G28W;ENSP00000437096:G28W;ENSP00000431580:G28W;ENSP00000433858:G45W;ENSP00000431564:G136W|.	ENSP00000319678:G556W|ENSP00000434701:W129L	G|W	-|-	1|2	0|0	ST5|ST5	8693905|8693905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.495000|3.495000	0.53280|0.53280	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		5	107	5	107	---	---	---	---	A	8737329	C	A	8737329	3	1	128	1	0	0	0	0	1	0	0	0	15219	594	21	1	1807	1	ST5	11	8737329	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		8737329	126269187	122	5760										
PDE3B	5140	broad.mit.edu	37	chr11	14808096	14808096	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtcatttcctctctacgGagtattagtagcttaatggg	9	8	2	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.chr11:14808096G>T	ENST00000282096.4	+	3	1496	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	381					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)	CCTCTCTACGGAGTATTAGTA	0.438																																						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.(1141-1143)cgG>cgT		phosphodiesterase 3B, cGMP-inhibited							181	191	188					11																	14808096		2200	4294	6494	SO:0001819	synonymous_variant	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.chr11:14808096G>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.1143G>T	11.37:g.14808096G>T			Somatic				PDE3B_ENST00000455098.2_Intron	p.R381R	NM_000922.3	NP_000913.2	WXS	Illumina GAIIx	Phase_I	Q13370	PDE3B_HUMAN			3	1496	+			381					B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.1143G>T	CCDS7817.1																																																																																				0.438	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		7	225	7	225	---	---	---	---	T	14808096	G	T	14808096	2	4	128	1	0	0	0	0	0	0	0	1	11638	1161	41	3		3	PDE3B	11	14808096	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	6070767	14808096	120198420	123	5761										
SLC1A2	6506	broad.mit.edu	37	chr11	35333904	35333904	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaagaccagaatgaccccCagtactgcagcaatgatggt	10	12	0	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.chr11:35333904C>A	ENST00000278379.3	-	4	684	c.402G>T	c.(400-402)ctG>ctT	p.L134L	SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L|SLC1A2_ENST00000395753.1_Silent_p.L125L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	134					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)			GAATGACCCCCAGTACTGCAG	0.547																																					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.(400-402)ctG>ctT		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						175	162	166					11																	35333904		2202	4298	6500	SO:0001819	synonymous_variant	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.chr11:35333904C>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.402G>T	11.37:g.35333904C>A			Somatic				SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L|SLC1A2_ENST00000395753.1_Silent_p.L125L	p.L134L	NM_004171.3	NP_004162.2	WXS	Illumina GAIIx	Phase_I	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		4	684	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	134					B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	c.402G>T	CCDS31459.1																																																																																				0.547	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		7	163	7	163	---	---	---	---	A	35333904	C	A	35333904	2	1	128	1	0	0	0	0	0	0	0	1	14432	581	21	1		1	SLC1A2	11	35333904	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20525808	35333904	99672612	124	5762										
CD6	923	broad.mit.edu	37	chr11	60785254	60785254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgaagagttgcatgcctccCacatcccaactgccaaccct	6	16	0	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.chr11:60785254C>A	ENST00000313421.7	+	11	1792	c.1606C>A	c.(1606-1608)Cac>Aac	p.H536N	CD6_ENST00000346437.4_Missense_Mutation_p.H463N|CD6_ENST00000344028.5_Missense_Mutation_p.H504N|CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	536					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						GCATGCCTCCCACATCCCAAC	0.542																																					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.(1606-1608)Cac>Aac		CD6 molecule							83	86	85					11																	60785254		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785254C>A		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.1606C>A	11.37:g.60785254C>A	ENSP00000323280:p.His536Asn		Somatic				CD6_ENST00000344028.5_Missense_Mutation_p.H504N|CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N|CD6_ENST00000346437.4_Missense_Mutation_p.H463N	p.H536N	NM_006725.4	NP_006716.3	WXS	Illumina GAIIx	Phase_I	P30203	CD6_HUMAN			11	1792	+			536					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1606C>A	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	1.385	-0.582471	0.03827	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T	0.01265	5.09;5.09;5.09;5.21;5.08;5.09	4.95	1.93	0.25924	.	3.424560	0.00714	N	0.000855	T	0.00875	0.0029	N	0.02011	-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;0.0	T	0.39840	-0.9594	10	0.37606	T	0.19	.	3.951	0.09369	0.1652:0.5847:0.16:0.0901	.	495;504;536;536	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	N	504;463;536;403;495;504	ENSP00000344108:H504N;ENSP00000345566:H463N;ENSP00000323280:H536N;ENSP00000410638:H403N;ENSP00000390676:H495N;ENSP00000340628:H504N	ENSP00000323280:H536N	H	+	1	0	CD6	60541830	0.000000	0.05858	0.001000	0.08648	0.350000	0.29205	-0.603000	0.05674	0.659000	0.30945	0.591000	0.81541	CAC		0.542	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		6	116	6	116	---	---	---	---	A	60785254	C	A	60785254	3	1	128	1	0	0	0	0	1	0	0	0	3028	594	21	1	1648	1	CD6	11	60785254	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	25451350	60785254	74221262	125	5763										
SLC22A25	387601	broad.mit.edu	37	chr11	62996946	62996946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtcccagggtcattgtcaGggatagtgtcattgtccagt	14	8	3	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.chr11:62996946G>T	ENST00000306494.6	-	1	178	c.179C>A	c.(178-180)cCt>cAt	p.P60H	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCATTGTCAGGGATAGTGTC	0.488																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(178-180)cCt>cAt		solute carrier family 22, member 25							158	145	149					11																	62996946		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62996946G>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.179C>A	11.37:g.62996946G>T	ENSP00000307443:p.Pro60His		Somatic				SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.P60H	NM_199352.3	NP_955384.3	WXS	Illumina GAIIx	Phase_I	Q6T423	S22AP_HUMAN			1	178	-			60						Missense_Mutation	SNP	ENST00000306494.6	37	c.179C>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701611	0.15172	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.36520	1.25	3.81	2.89	0.33648	.	0.638008	0.12957	U	0.425309	T	0.23611	0.0571	N	0.11560	0.145	0.09310	N	1	P;P	0.46952	0.79;0.887	P;P	0.45753	0.492;0.492	T	0.05767	-1.0865	10	0.56958	D	0.05	.	7.7741	0.29026	0.1228:0.0:0.8772:0.0	.	58;60	A4IF29;Q6T423	.;S22AP_HUMAN	H	60	ENSP00000307443:P60H	ENSP00000307443:P60H	P	-	2	0	SLC22A25	62753522	0.000000	0.05858	0.247000	0.24249	0.018000	0.09664	0.014000	0.13333	0.726000	0.32339	0.472000	0.43445	CCT		0.488	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		6	101	6	101	---	---	---	---	T	62996946	G	T	62996946	3	4	128	1	0	0	0	0	1	0	0	0	14454	1000	35	1	1500	1	SLC22A25	11	62996946	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2211692	62996946	72009570	126	5764										
KAT5	10524	broad.mit.edu	37	chr11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctccaggagaaagaatcaAcggaagactacaatgtggcc	10	9	2	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.chr11:65484372A>G	ENST00000377046.3	+	11	1356	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000341318.4_Missense_Mutation_p.T395A	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		Somatic				KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	p.T395A	NM_182710.2	NP_874369.1	WXS	Illumina GAIIx	Phase_I	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	22	104	---	---	---	---	G	65484372	A	G	65484372	3	3	128	1	0	0	0	0	1	0	0	0	7983	43	2	2	1221	2	KAT5	11	65484372	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08	2487426	65484372	69522144	127	5765										
SF3B2	10992	broad.mit.edu	37	chr11	65820563	65820563	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacaaagccgctccacctccCatgtcggcacaggtagggag	12	14	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.chr11:65820563C>A	ENST00000322535.6	+	3	295	c.246C>A	c.(244-246)ccC>ccA	p.P82P	SF3B2_ENST00000528302.1_Silent_p.P82P|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	82					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)	p.P82P(1)		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						CTCCACCTCCCATGTCGGCAC	0.488																																						ENST00000528302.1																			1	Substitution - coding silent(1)	p.P82P(1)	lung(1)	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.(244-246)ccC>ccA		splicing factor 3b, subunit 2, 145kDa							157	163	161					11																	65820563		2201	4296	6497	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820563C>A	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.246C>A	11.37:g.65820563C>A			Somatic				SF3B2_ENST00000322535.6_Silent_p.P82P	p.P82P			WXS	Illumina GAIIx	Phase_I	Q13435	SF3B2_HUMAN			3	300	+			82					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.246C>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467477	0.26335	.	.	ENSG00000087365	ENST00000533421	.	.	.	4.55	0.249	0.15531	.	0.191744	0.47093	D	0.000256	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	6	0.87932	D	0	-8.2842	4.1798	0.10369	0.0:0.5229:0.1683:0.3089	.	.	.	.	Q	33	.	ENSP00000434288:P33Q	P	+	2	0	SF3B2	65577139	0.917000	0.31117	0.992000	0.48379	0.975000	0.68041	-0.467000	0.06664	-0.038000	0.13624	0.655000	0.94253	CCA		0.488	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			6	155	6	155	---	---	---	---	A	65820563	C	A	65820563	2	1	128	1	0	0	0	0	0	0	0	1	14151	581	21	1		1	SF3B2	11	65820563	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	336191	65820563	69185953	128	5766										
CCDC87	55231	broad.mit.edu	37	chr11	66358464	66358464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcaggctcagaattttgtGgggttctcccaggtggggtg	16	8	2	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.chr11:66358464G>T	ENST00000333861.3	-	1	2090	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	675					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						AGAATTTTGTGGGGTTCTCCC	0.512																																						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.(2023-2025)Cac>Aac		coiled-coil domain containing 87							50	49	49					11																	66358464		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358464G>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.2023C>A	11.37:g.66358464G>T	ENSP00000328487:p.His675Asn		Somatic					p.H675N	NM_018219.2	NP_060689.2	WXS	Illumina GAIIx	Phase_I	Q9NVE4	CCD87_HUMAN			1	2090	-			675					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2023C>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170788	0.06421	.	.	ENSG00000182791	ENST00000333861	T	0.30981	1.51	3.93	-4.21	0.03812	.	1.343740	0.05423	N	0.544543	T	0.22627	0.0546	L	0.54323	1.7	0.09310	N	1	B	0.33073	0.396	B	0.29176	0.099	T	0.21552	-1.0242	10	0.26408	T	0.33	.	4.8693	0.13624	0.57:0.0:0.26:0.1701	.	675	Q9NVE4	CCD87_HUMAN	N	675	ENSP00000328487:H675N	ENSP00000328487:H675N	H	-	1	0	CCDC87	66115040	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.350000	0.20079	-0.612000	0.05701	0.462000	0.41574	CAC		0.512	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		5	84	5	84	---	---	---	---	T	66358464	G	T	66358464	3	4	128	1	0	0	0	0	1	0	0	0	2862	1348	47	1	530	1	CCDC87	11	66358464	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	537901	66358464	68648052	129	5767										
FOLR1	2348	broad.mit.edu	37	chr11	71903276	71903276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgtgggtggctgtagtagGggaggctcagacaaggattg	19	4	1	1	rs566120497		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.chr11:71903276G>T	ENST00000393679.1	+	2	495	c.59G>T	c.(58-60)gGg>gTg	p.G20V	FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V|FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					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)	GCTGTAGTAGGGGAGGCTCAG	0.557																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(58-60)gGg>gTg		folate receptor 1 (adult)							132	116	121					11																	71903276		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.chr11:71903276G>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.59G>T	11.37:g.71903276G>T	ENSP00000377284:p.Gly20Val		Somatic				FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V	p.G20V			WXS	Illumina GAIIx	Phase_I	P15328	FOLR1_HUMAN			2	495	+			20					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.59G>T	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	-	13.52	2.262657	0.39995	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.36	2.43	0.29744	.	0.794205	0.10383	N	0.681305	T	0.58666	0.2138	N	0.08118	0	0.09310	N	0.999998	D	0.63880	0.993	P	0.54856	0.762	T	0.47649	-0.9101	10	0.22706	T	0.39	-31.8038	7.3701	0.26796	0.0:0.1864:0.6203:0.1933	.	20	P15328	FOLR1_HUMAN	V	20	ENSP00000308137:G20V;ENSP00000377286:G20V;ENSP00000377284:G20V;ENSP00000377281:G20V	ENSP00000308137:G20V	G	+	2	0	FOLR1	71580924	0.001000	0.12720	0.002000	0.10522	0.016000	0.09150	0.808000	0.27154	0.735000	0.32537	-0.188000	0.12872	GGG		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		6	104	6	104	---	---	---	---	T	71903276	G	T	71903276	3	4	128	1	0	0	0	0	1	0	0	0	5981	1232	43	1	61	1	FOLR1	11	71903276	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	5544812	71903276	63103240	130	5768										
TRPC6	7225	broad.mit.edu	37	chr11	101362373	101362373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggagcgtttcaacatcccCattcagaatggcctcgactt	8	13	2	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.chr11:101362373C>A	ENST00000344327.3	-	3	1466	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	348					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.G348W(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)		TCAACATCCCCATTCAGAATG	0.428																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			1	Substitution - Missense(1)	p.G348W(1)	lung(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.(1042-1044)Ggg>Tgg		transient receptor potential cation channel, subfamily C, member 6							129	127	128					11																	101362373		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.chr11:101362373C>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.1042G>T	11.37:g.101362373C>A	ENSP00000340913:p.Gly348Trp		Somatic				TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W|TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W	p.G348W	NM_004621.5	NP_004612.2	WXS	Illumina GAIIx	Phase_I	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1466	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	348					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1042G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758666	0.69763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.64803	-0.12;-0.12;-0.12	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79761	-0.1667	10	0.41790	T	0.15	-2.8766	20.8597	0.99761	0.0:1.0:0.0:0.0	.	348;348	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	W	348	ENSP00000340913:G348W;ENSP00000435574:G348W;ENSP00000353687:G348W	ENSP00000340913:G348W	G	-	1	0	TRPC6	100867583	1.000000	0.71417	0.990000	0.47175	0.124000	0.20399	7.731000	0.84895	2.937000	0.99478	0.650000	0.86243	GGG		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		5	104	5	104	---	---	---	---	A	101362373	C	A	101362373	3	1	128	1	0	0	0	0	1	0	0	0	16580	594	21	1	1797	1	TRPC6	11	101362373	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	29459097	101362373	33644143	131	5769										
MMP27	64066	broad.mit.edu	37	chr11	102563708	102563708	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcaacacggatactgattcCaggaaagtgttttaccactc	7	10	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.chr11:102563708C>A	ENST00000260229.4	-	9	1349	c.1258G>T	c.(1258-1260)Gga>Tga	p.G420*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	420					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	ATACTGATTCCAGGAAAGTGT	0.428																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1258-1260)Gga>Tga		matrix metallopeptidase 27							218	204	209					11																	102563708		2203	4299	6502	SO:0001587	stop_gained	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102563708C>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1258G>T	11.37:g.102563708C>A	ENSP00000260229:p.Gly420*		Somatic					p.G420*	NM_022122.2	NP_071405.2	WXS	Illumina GAIIx	Phase_I	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	9	1349	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	420			Hemopexin-like 3.		Q6UWK6	Nonsense_Mutation	SNP	ENST00000260229.4	37	c.1258G>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894474	0.72639	.	.	ENSG00000137675	ENST00000260229	.	.	.	5.53	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.4323	0.55581	0.0:0.8603:0.0:0.1397	.	.	.	.	X	420	.	ENSP00000260229:G420X	G	-	1	0	MMP27	102068918	1.000000	0.71417	0.969000	0.41365	0.008000	0.06430	4.519000	0.60517	1.349000	0.45751	0.650000	0.86243	GGA		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		6	206	6	206	---	---	---	---	A	102563708	C	A	102563708	4	1	128	1	0	0	0	0	0	1	0	0	9664	603	21	1	291	1	MMP27	11	102563708	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1201335	102563708	32442808	132	5770										
GUCY1A2	2977	broad.mit.edu	37	chr11	106558382	106558382	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttggaccagtccttacctCcaggaaatagcagatcccag	8	13	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.chr11:106558382C>A	ENST00000526355.2	-	8	2560	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	698					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)	GTCCTTACCTCCAGGAAATAG	0.448																																						ENST00000526355.2																			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.(2092-2094)Gag>Tag		guanylate cyclase 1, soluble, alpha 2							140	142	141					11																	106558382		2201	4298	6499	SO:0001587	stop_gained	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558382C>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.2092G>T	11.37:g.106558382C>A	ENSP00000431245:p.Glu698*		Somatic				GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729*	p.E698*	NM_000855.2	NP_000846.1	WXS	Illumina GAIIx	Phase_I	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2560	-		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)						A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	ENST00000526355.2	37	c.2092G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	41	9.052562	0.99050	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.38	5.38	0.77491	.	0.000000	0.45606	U	0.000352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	.	.	.	X	698;729;719	.	ENSP00000282249:E729X	E	-	1	0	GUCY1A2	106063592	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.385000	0.79763	2.689000	0.91719	0.305000	0.20034	GAG		0.448	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			7	191	7	191	---	---	---	---	A	106558382	C	A	106558382	4	1	128	1	0	0	0	0	0	1	0	0	6893	864	30	3	110	3	GUCY1A2	11	106558382	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3994674	106558382	28448134	133	5771										
DSCAML1	57453	broad.mit.edu	37	chr11	117301514	117301514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggcttgggtggtgaggcGgtaaagcggcagatgccagg	21	6	0	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.chr11:117301514G>T	ENST00000321322.6	-	32	5791	c.5790C>A	c.(5788-5790)acC>acA	p.T1930T	DSCAML1_ENST00000527706.1_Silent_p.T1660T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1870					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)		GTGGTGAGGCGGTAAAGCGGC	0.612																																						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.(5788-5790)acC>acA		Down syndrome cell adhesion molecule like 1							242	200	214					11																	117301514		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.chr11:117301514G>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.5790C>A	11.37:g.117301514G>T			Somatic				DSCAML1_ENST00000527706.1_Silent_p.T1660T	p.T1930T	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5791	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1870					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5790C>A	CCDS8384.1																																																																																				0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	215	5	215	---	---	---	---	T	117301514	G	T	117301514	2	4	128	1	0	0	0	0	0	0	0	1	4769	1103	39	1		1	DSCAML1	11	117301514	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	10743132	117301514	17705002	134	5772										
BSX	390259	broad.mit.edu	37	chr11	122850125	122850125	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgcttccccggcagctcCgcgtgctgcgggtgcgggaa	16	14	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.chr11:122850125C>A	ENST00000343035.2	-	2	351	c.303G>T	c.(301-303)gcG>gcT	p.A101A		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	101					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)		CCGGCAGCTCCGCGTGCTGCG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(301-303)gcG>gcT		brain-specific homeobox							28	35	33					11																	122850125		2001	4177	6178	SO:0001819	synonymous_variant	390259							g.chr11:122850125C>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.303G>T	11.37:g.122850125C>A			Somatic					p.A101A	NM_001098169.1	NP_001091639.1	WXS	Illumina GAIIx	Phase_I	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	351	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	101						Silent	SNP	ENST00000343035.2	37	c.303G>T	CCDS41728.1																																																																																				0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		4	62	4	62	---	---	---	---	A	122850125	C	A	122850125	2	1	128	1	0	0	0	0	0	0	0	1	1535	639	23	1		1	BSX	11	122850125	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5548611	122850125	12156391	135	5773										
PATE2	399967	broad.mit.edu	37	chr11	125648648	125648648	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagagcagaaagactgtgccCaggagaaagagaacaagcat	12	8	0	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.chr11:125648648C>A	ENST00000358524.3	-	1	66	c.21G>T	c.(19-21)ctG>ctT	p.L7L	PATE2_ENST00000436890.2_Silent_p.L7L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	7						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AGACTGTGCCCAGGAGAAAGA	0.517																																						ENST00000358524.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(19-21)ctG>ctT		prostate and testis expressed 2							87	86	86					11																	125648648		2201	4299	6500	SO:0001819	synonymous_variant	399967					extracellular space		g.chr11:125648648C>A	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.21G>T	11.37:g.125648648C>A			Somatic				PATE2_ENST00000436890.2_Silent_p.L7L	p.L7L	NM_212555.2	NP_997720.1	WXS	Illumina GAIIx	Phase_I	Q6UY27	PATE2_HUMAN			1	66	-			7					B2RNZ2|B7ZMG4	Silent	SNP	ENST00000358524.3	37	c.21G>T	CCDS8465.1																																																																																				0.517	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		5	74	5	74	---	---	---	---	A	125648648	C	A	125648648	2	1	128	1	0	0	0	0	0	0	0	1	11474	581	21	1		1	PATE2	11	125648648	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2798523	125648648	9357868	136	5774										
CLSTN3	9746	broad.mit.edu	37	chr12	7293961	7293961	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcctcatccacccacccCgaagggagcctgctctcatg	9	17	2	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.chr12:7293961C>A	ENST00000266546.6	+	9	1897	c.1447C>A	c.(1447-1449)Cga>Aga	p.R483R	CLSTN3_ENST00000537408.1_Silent_p.R495R	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	483					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						CCACCCACCCCGAAGGGAGCC	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1483-1485)Cga>Aga		calsyntenin 3							219	174	189					12																	7293961		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293961C>A	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.1447C>A	12.37:g.7293961C>A			Somatic	OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Silent_p.R483R	p.R495R			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			8	2021	+			483					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1483C>A	CCDS8575.1																																																																																				0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	240	6	240	---	---	---	---	A	7293961	C	A	7293961	2	1	128	1	0	0	0	0	0	0	0	1	3563	644	23	1		1	CLSTN3	12	7293961	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08		7293961	126557934	137	5775										
PRR4	11272	broad.mit.edu	37	chr12	10999752	10999752	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctgacagaaggaaatcgGggtagagagagttgacggtg	18	4	0	5	rs78191133		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.chr12:10999752G>T	ENST00000228811.4	-	3	352	c.315C>A	c.(313-315)ccC>ccA	p.P105P	PRR4_ENST00000540107.1_Missense_Mutation_p.P48T|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	105					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGAAATCGGGGTAGAGAGA	0.542																																						ENST00000540107.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						c.(142-144)Ccg>Acg		proline rich 4 (lacrimal)							223	221	221					12																	10999752		1999	4171	6170	SO:0001819	synonymous_variant	11272				visual perception	extracellular space		g.chr12:10999752G>T		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.315C>A	12.37:g.10999752G>T			Somatic				PRR4_ENST00000544994.1_Intron|PRR4_ENST00000228811.4_Silent_p.P105P|PRR4_ENST00000536668.1_5'UTR	p.P48T			WXS	Illumina GAIIx	Phase_I	Q16378	PROL4_HUMAN			3	179	-			0			Pro-rich.		A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	c.142C>A	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.540|1.540	-0.542060|-0.542060	0.04053|0.04053	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000431566|ENST00000540107	.|T	.|0.09630	.|2.96	1.2|1.2	0.265|0.265	0.15612|0.15612	.|.	0.000000|0.000000	0.31734|0.31734	U|U	0.007145|0.007145	T|T	0.10895|0.10895	0.0266|0.0266	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.14952|0.14952	-1.0454|-1.0454	6|7	0.66056|0.87932	D|D	0.02|0	.|.	3.514|3.514	0.07718|0.07718	0.2742:0.0:0.7258:0.0|0.2742:0.0:0.7258:0.0	.|.	.|.	.|.	.|.	H|T	89|48	.|ENSP00000443939:P48T	ENSP00000405056:P89H|ENSP00000443939:P48T	P|P	-|-	2|1	0|0	PRR4|PRR4	10891019|10891019	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.005000|0.005000	0.04900|0.04900	0.349000|0.349000	0.20055|0.20055	0.064000|0.064000	0.16427|0.16427	0.411000|0.411000	0.27672|0.27672	CCC|CCG		0.542	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		8	214	8	214	---	---	---	---	T	10999752	G	T	10999752	2	4	128	1	0	0	0	0	0	0	0	1	12599	1219	43	1		1	PRR4	12	10999752	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3705791	10999752	122852143	138	5776										
FAM60A	58516	broad.mit.edu	37	chr12	31435764	31435764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtgtcaatgaggacttccCcaaaacggcctttatagatg	10	9	1	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.chr12:31435764C>A	ENST00000337682.4	-	6	916	c.548G>T	c.(547-549)gGg>gTg	p.G183V	FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V|FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	183					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTCCCCAAAACGGCC	0.428																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(547-549)gGg>gTg		family with sequence similarity 60, member A							57	55	55					12																	31435764		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31435764C>A	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.548G>T	12.37:g.31435764C>A	ENSP00000337477:p.Gly183Val		Somatic				FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V	p.G183V	NM_001135812.1	NP_001129284.1	WXS	Illumina GAIIx	Phase_I	Q9NP50	FA60A_HUMAN			6	916	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		183					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.548G>T	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399288	0.83120	.	.	ENSG00000139146	ENST00000539409;ENST00000337682;ENST00000454658;ENST00000398170;ENST00000395766;ENST00000542983	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.53	4.53	0.55603	.	0.049461	0.85682	D	0.000000	T	0.76933	0.4057	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.81393	-0.0953	10	0.87932	D	0	-22.3677	17.2544	0.87051	0.0:1.0:0.0:0.0	.	183;224	Q9NP50;B7Z287	FA60A_HUMAN;.	V	35;183;183;224;35;35	ENSP00000443697:G35V;ENSP00000337477:G183V;ENSP00000393279:G183V;ENSP00000379115:G35V;ENSP00000439952:G35V	ENSP00000337477:G183V	G	-	2	0	FAM60A	31327031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.275000	0.78548	2.055000	0.61198	0.591000	0.81541	GGG		0.428	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		5	59	5	59	---	---	---	---	A	31435764	C	A	31435764	3	1	128	1	0	0	0	0	1	0	0	0	5595	623	22	1	121	1	FAM60A	12	31435764	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	20436012	31435764	102416131	139	5777										
DIP2B	57609	broad.mit.edu	37	chr12	51054041	51054041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacagaagatggctttgccCatgccaaccaaaaggcgatc	10	11	0	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.chr12:51054041C>A	ENST00000301180.5	+	4	400	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	122	DMAP-interaction.					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						TGGCTTTGCCCATGCCAACCA	0.448																																						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.(364-366)ccC>ccA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							150	137	141					12																	51054041		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51054041C>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.366C>A	12.37:g.51054041C>A			Somatic					p.P122P	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			4	400	+			122					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.366C>A	CCDS31799.1																																																																																				0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	68	5	68	---	---	---	---	A	51054041	C	A	51054041	2	1	128	1	0	0	0	0	0	0	0	1	4528	581	21	1		1	DIP2B	12	51054041	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	19618277	51054041	82797854	140	5778										
METTL7A	25840	broad.mit.edu	37	chr12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggatatgcaaaaaatggTtcccctacttcttggtgagg	11	8	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.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		Somatic				METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L	p.F36L			WXS	Illumina GAIIx	Phase_I	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	17	68	---	---	---	---	C	51318927	T	C	51318927	3	2	128	1	0	0	0	0	1	0	0	0	9505	1725	60	2	108	2	METTL7A	12	51318927	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	264886	51318927	82532968	141	5779										
GPR84	53831	broad.mit.edu	37	chr12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccacttctgatgagtcccCttccagggtctgggtggtgg	13	12	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.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						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						GATGAGTCCCCTTCCAGGGTC	0.547																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(805-807)Ggg>Tgg		G protein-coupled receptor 84							135	140	138					12																	54756831		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756831C>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.805G>T	12.37:g.54756831C>A	ENSP00000450310:p.Gly269Trp		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA	p.G269W			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	1440	-			269					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.805G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823102	0.16678	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61980	0.06;0.06	4.88	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.528223	0.18343	N	0.144124	T	0.36468	0.0968	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.26677	-1.0096	10	0.54805	T	0.06	-3.3035	6.7169	0.23308	0.147:0.683:0.0:0.1699	.	269	Q9NQS5	GPR84_HUMAN	W	269	ENSP00000267015:G269W;ENSP00000450310:G269W	ENSP00000267015:G269W	G	-	1	0	GPR84	53043098	0.001000	0.12720	0.597000	0.28824	0.979000	0.70002	0.611000	0.24268	0.566000	0.29273	0.561000	0.74099	GGG		0.547	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	208	7	208	---	---	---	---	A	54756831	C	A	54756831	3	1	128	1	0	0	0	0	1	0	0	0	6714	681	24	1	389	1	GPR84	12	54756831	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3437904	54756831	79095064	142	5780										
LRIG3	121227	broad.mit.edu	37	chr12	59274658	59274658	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactgtgtttctggctgaacCgtgatctggggtttgggaaa	15	6	2	2	rs368520634		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.chr12:59274658C>A	ENST00000320743.3	-	13	1792	c.1506G>T	c.(1504-1506)acG>acT	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T502T(1)	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)			CTGGCTGAACCGTGATCTGGG	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)	1	Substitution - coding silent(1)	p.T502T(1)	lung(1)	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.(1504-1506)acG>acT		leucine-rich repeats and immunoglobulin-like domains 3							154	162	160					12																	59274658		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274658C>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.1506G>T	12.37:g.59274658C>A			Somatic				LRIG3_ENST00000379141.4_Silent_p.T442T	p.T502T	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1792	-			502			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1506G>T	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	185	6	185	---	---	---	---	A	59274658	C	A	59274658	2	1	128	1	0	0	0	0	0	0	0	1	8946	639	23	1		1	LRIG3	12	59274658	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	4517827	59274658	74577237	143	5781										
BEST3	144453	broad.mit.edu	37	chr12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaatccaaaaaaagttgcAtttgctactttactggagta	7	6	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.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000533674.1_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		Somatic				BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	p.N11K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	WXS	Illumina GAIIx	Phase_I	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	28	110	---	---	---	---	T	70091546	A	T	70091546	3	4	128	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	10816888	70091546	63760349	144	5782										
KCNC2	3747	broad.mit.edu	37	chr12	75601721	75601721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtttcgtgccgggtgccccCgacattgaggatcaccctct	12	14	2	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.chr12:75601721C>A	ENST00000549446.1	-	2	723	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	15					action potential (GO:0001508)|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)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CGGGTGCCCCCGACATTGAGG	0.592																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(43-45)Ggg>Tgg		potassium voltage-gated channel, Shaw-related subfamily, member 2							52	45	47					12																	75601721		1988	3937	5925	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601721C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.43G>T	12.37:g.75601721C>A	ENSP00000449253:p.Gly15Trp		Somatic				KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W	p.G15W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	WXS	Illumina GAIIx	Phase_I	Q96PR1	KCNC2_HUMAN			2	723	-			15					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.43G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.030318	0.75504	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.04	4.04	0.47022	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.133206	0.34110	N	0.004255	D	0.87569	0.6210	H	0.99104	4.43	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;0.999	D	0.92878	0.6320	10	0.87932	D	0	.	15.1377	0.72583	0.0:1.0:0.0:0.0	.	15;15;15;15;15	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	W	15	ENSP00000448301:G15W;ENSP00000449941:G15W;ENSP00000449253:G15W;ENSP00000340121:G15W;ENSP00000298972:G15W;ENSP00000319877:G15W;ENSP00000438423:G15W;ENSP00000376966:G15W	ENSP00000298972:G15W	G	-	1	0	KCNC2	73887988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.405000	0.80007	2.075000	0.62263	0.558000	0.71614	GGG		0.592	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	76	5	76	---	---	---	---	A	75601721	C	A	75601721	3	1	128	1	0	0	0	0	1	0	0	0	8015	652	23	1	1955	1	KCNC2	12	75601721	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5510175	75601721	58250174	145	5783										
DAO	1610	broad.mit.edu	37	chr12	109281269	109281269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actatctcctgagccatgtcCattctcccaacgctgaaaac	5	15	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.chr12:109281269C>A	ENST00000228476.3	+	3	442	c.238C>A	c.(238-240)Cat>Aat	p.H80N	DAO_ENST00000551281.1_Missense_Mutation_p.H80N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	80					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)	GAGCCATGTCCATTCTCCCAA	0.522																																						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.(238-240)Cat>Aat		D-amino-acid oxidase							353	326	335					12																	109281269		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109281269C>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.238C>A	12.37:g.109281269C>A	ENSP00000228476:p.His80Asn		Somatic				DAO_ENST00000551281.1_Missense_Mutation_p.H80N	p.H80N	NM_001917.4	NP_001908.3	WXS	Illumina GAIIx	Phase_I	P14920	OXDA_HUMAN			3	442	+			80					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.238C>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.574672	0.00887	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	T;T;T	0.80909	1.01;-1.43;-1.43	5.52	1.18	0.20946	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.492198	0.24618	N	0.036998	T	0.56321	0.1977	N	0.04686	-0.185	0.35772	D	0.821016	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.002	T	0.50634	-0.8805	10	0.11794	T	0.64	-17.1709	9.734	0.40377	0.2483:0.4931:0.2586:0.0	.	80;63	P14920;Q7Z312	OXDA_HUMAN;.	N	80	ENSP00000446853:H80N;ENSP00000228476:H80N;ENSP00000447104:H80N	ENSP00000228476:H80N	H	+	1	0	DAO	107805398	0.005000	0.15991	0.991000	0.47740	0.079000	0.17450	0.236000	0.17967	0.703000	0.31848	0.591000	0.81541	CAT		0.522	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			10	444	10	444	---	---	---	---	A	109281269	C	A	109281269	3	1	128	1	0	0	0	0	1	0	0	0	4231	594	21	1	244	1	DAO	12	109281269	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	33679548	109281269	24570626	146	5784										
OASL	8638	broad.mit.edu	37	chr12	121471534	121471534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgagaaccgtgccattccCgaaggagcccacctgcagaa	10	15	0	2	rs146484691		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.chr12:121471534C>A	ENST00000257570.5	-	2	481	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	OASL_ENST00000339275.5_Missense_Mutation_p.G71W	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	71					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)					GTGCCATTCCCGAAGGAGCCC	0.592																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(211-213)Ggg>Tgg		2'-5'-oligoadenylate synthetase-like							77	80	79					12																	121471534		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.chr12:121471534C>A	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.211G>T	12.37:g.121471534C>A	ENSP00000257570:p.Gly71Trp		Somatic				OASL_ENST00000339275.5_Missense_Mutation_p.G71W	p.G71W	NM_003733.3	NP_003724.1	WXS	Illumina GAIIx	Phase_I	Q15646	OASL_HUMAN			2	481	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		71					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.211G>T	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217695	0.58560	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.12039	2.72;2.72	4.52	3.63	0.41609	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	0.000000	0.53938	D	0.000046	T	0.34308	0.0893	M	0.82056	2.57	0.26729	N	0.970629	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05937	-1.0855	10	0.87932	D	0	-52.6377	7.7683	0.28993	0.0:0.889:0.0:0.111	.	71;71	Q15646-2;Q15646	.;OASL_HUMAN	W	71	ENSP00000257570:G71W;ENSP00000341125:G71W	ENSP00000257570:G71W	G	-	1	0	OASL	119955917	0.753000	0.28349	0.993000	0.49108	0.803000	0.45373	1.796000	0.38794	2.496000	0.84212	0.555000	0.69702	GGG		0.592	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		4	111	4	111	---	---	---	---	A	121471534	C	A	121471534	3	1	128	1	0	0	0	0	1	0	0	0	10802	652	23	1	1353	1	OASL	12	121471534	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	12190265	121471534	12380361	147	5785										
ZMYM5	9205	broad.mit.edu	37	chr13	20426226	20426226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggatgaccaaatgaatccCctatgtccatgagactagtt	8	10	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.chr13:20426226C>A	ENST00000337963.4	-	3	359	c.95G>T	c.(94-96)gGg>gTg	p.G32V	ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	32						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)		AAATGAATCCCCTATGTCCAT	0.413																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(94-96)gGg>gTg		zinc finger, MYM-type 5							186	182	183					13																	20426226		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20426226C>A	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.95G>T	13.37:g.20426226C>A	ENSP00000337034:p.Gly32Val		Somatic				ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V	p.G32V	NM_001142684.1	NP_001136156.1	WXS	Illumina GAIIx	Phase_I	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	359	-		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)	32					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.95G>T		.	.	.	.	.	.	.	.	.	.	C	7.825	0.718525	0.15372	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.43	1.55	0.23275	.	.	.	.	.	T	0.44095	0.1277	M	0.73962	2.25	0.09310	N	0.999999	P;D;P	0.53312	0.731;0.959;0.893	B;P;P	0.54664	0.273;0.758;0.66	T	0.26467	-1.0102	9	0.72032	D	0.01	-0.1304	7.1809	0.25772	0.0:0.6968:0.1404:0.1627	.	32;32;32	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	32;22;32;32	ENSP00000337034:G32V;ENSP00000445779:G22V;ENSP00000372364:G32V;ENSP00000372361:G32V	ENSP00000337034:G32V	G	-	2	0	ZMYM5	19324226	0.932000	0.31603	0.003000	0.11579	0.026000	0.11368	1.753000	0.38359	0.176000	0.19873	0.561000	0.74099	GGG		0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	237	8	237	---	---	---	---	A	20426226	C	A	20426226	3	1	128	1	0	0	0	0	1	0	0	0	17700	623	22	1	2049	1	ZMYM5	13	20426226	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		20426226	94743652	148	5786										
DCLK1	9201	broad.mit.edu	37	chr13	36385036	36385036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagactgtgtacagggggcCgtctacaatggtggccagtc	14	10	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.chr13:36385036C>A	ENST00000360631.3	-	12	1835	c.1624G>T	c.(1624-1626)Ggc>Tgc	p.G542C	DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000255448.4_Missense_Mutation_p.G542C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	542	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)		TACAGGGGGCCGTCTACAATG	0.468																																						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.(1624-1626)Ggc>Tgc		doublecortin-like kinase 1							167	160	163					13																	36385036		2203	4300	6503	SO:0001583	missense	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.chr13:36385036C>A	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.1624G>T	13.37:g.36385036C>A	ENSP00000353846:p.Gly542Cys		Somatic				DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000360631.3_Missense_Mutation_p.G542C	p.G542C	NM_004734.4	NP_004725.1	WXS	Illumina GAIIx	Phase_I	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)	12	1835	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	542			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1624G>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925730	0.92319	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.66995	-0.24;-0.24;-0.24	5.18	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);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.91635	0.953;0.999;0.998;0.953	T	0.82936	-0.0210	10	0.72032	D	0.01	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	235;542;542;235	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	C	234;542;542;235;524	ENSP00000255448:G542C;ENSP00000353846:G542C;ENSP00000369223:G235C	ENSP00000255448:G542C	G	-	1	0	DCLK1	35283036	1.000000	0.71417	0.896000	0.35187	0.995000	0.86356	7.351000	0.79395	2.572000	0.86782	0.655000	0.94253	GGC		0.468	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		6	199	6	199	---	---	---	---	A	36385036	C	A	36385036	3	1	128	1	0	0	0	0	1	0	0	0	4291	652	23	1	593	1	DCLK1	13	36385036	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	15958810	36385036	78784842	149	5787										
RB1	5925	broad.mit.edu	37	chr13	48881478	48881478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtcagaaattaaagatacCagatcatgtcagagagagag	10	5	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.chr13:48881478C>A	ENST00000267163.4	+	2	338	c.200C>A	c.(199-201)cCa>cAa	p.P67Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	67					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.?(3)		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)"	TTAAAGATACCAGATCATGTC	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"		18	Whole gene deletion(15)|Unknown(3)	p.0?(15)|p.?(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(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.(199-201)cCa>cAa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						135	138	137					13																	48881478		2203	4300	6503	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.chr13:48881478C>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.200C>A	13.37:g.48881478C>A	ENSP00000267163:p.Pro67Gln	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.P67Q	NM_000321.2	NP_000312.2	WXS	Illumina GAIIx	Phase_I	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	338	+		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)	67					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.200C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651520	0.47362	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91521	-2.86	4.83	4.83	0.62350	.	0.121948	0.56097	D	0.000029	D	0.85182	0.5638	L	0.40543	1.245	0.42680	D	0.993543	B	0.31730	0.337	B	0.22601	0.04	D	0.85229	0.1031	10	0.52906	T	0.07	.	13.7951	0.63166	0.0:1.0:0.0:0.0	.	67	P06400	RB_HUMAN	Q	46;67	ENSP00000267163:P67Q	ENSP00000267163:P67Q	P	+	2	0	RB1	47779479	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.624000	0.54231	2.373000	0.80994	0.650000	0.86243	CCA		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			5	66	5	66	---	---	---	---	A	48881478	C	A	48881478	3	1	128	1	0	0	0	0	1	0	0	0	13098	594	21	1	206	1	RB1	13	48881478	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	12496442	48881478	66288400	150	5788										
NEK5	341676	broad.mit.edu	37	chr13	52701573	52701573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttagctaagtatgctttccCgaaggcaccttgcccgatgg	10	11	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.chr13:52701573C>A	ENST00000355568.4	-	3	185	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TATGCTTTCCCGAAGGCACCT	0.378																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(46-48)Ggg>Tgg		NIMA-related kinase 5							195	188	190					13																	52701573		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52701573C>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.46G>T	13.37:g.52701573C>A	ENSP00000347767:p.Gly16Trp		Somatic					p.G16W	NM_199289.1	NP_954983.1	WXS	Illumina GAIIx	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	3	185	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	16			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.46G>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358683	0.61403	.	.	ENSG00000197168	ENST00000355568	T	0.56611	0.45	5.35	4.5	0.54988	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	0.000003	D	0.82296	0.5006	H	0.98559	4.265	0.49299	D	0.999776	D	0.89917	1.0	D	0.97110	1.0	D	0.88327	0.2966	10	0.87932	D	0	.	12.9571	0.58434	0.1625:0.8375:0.0:0.0	.	16	Q6P3R8	NEK5_HUMAN	W	16	ENSP00000347767:G16W	ENSP00000347767:G16W	G	-	1	0	NEK5	51599574	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.917000	0.48821	1.364000	0.46038	-0.182000	0.12963	GGG		0.378	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		6	214	6	214	---	---	---	---	A	52701573	C	A	52701573	3	1	128	1	0	0	0	0	1	0	0	0	10327	652	23	1	2160	1	NEK5	13	52701573	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3820095	52701573	62468305	151	5789										
OSGEP	328	broad.mit.edu	37	chr14	20920516	20920516	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgcaatgcagtcgatatcCtgggaggttaatccagactc	10	9	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.chr14:20920516C>A	ENST00000216714.3	+	0	0				RP11-203M5.7_ENST00000555435.1_RNA|APEX1_ENST00000555414.1_5'Flank|OSGEP_ENST00000555656.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.Q69H|APEX1_ENST00000557054.1_5'Flank|OSGEP_ENST00000556252.1_5'UTR|OSGEP_ENST00000554249.1_5'Flank|APEX1_ENST00000398030.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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)	Lucanthone(DB04967)	AGTCGATATCCTGGGAGGTTA	0.498								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(205-207)caG>caT		O-sialoglycoprotein endopeptidase							191	169	176					14																	20920516		2203	4300	6503	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20920516C>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"APEX nuclease (multifunctional DNA repair enzyme)"	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20920516C>A	Exception_encountered		Somatic				OSGEP_ENST00000556252.1_5'UTR	p.Q69H	NM_017807.3	NP_060277.1	WXS	Illumina GAIIx	Phase_I	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	2	628	-	all_cancers(95;0.00123)	all_lung(585;0.235)	69					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.207G>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058302	0.36277	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T;T	0.44482	2.29;0.92;0.92	5.65	4.77	0.60923	Peptidase M22, glycoprotease (1);	0.381634	0.29916	N	0.010865	T	0.34164	0.0888	L	0.45470	1.425	0.33367	D	0.573038	B	0.02656	0.0	B	0.10450	0.005	T	0.42292	-0.9460	10	0.44086	T	0.13	-6.4869	7.6357	0.28266	0.0:0.7539:0.0:0.2461	.	69	Q9NPF4	OSGEP_HUMAN	H	69	ENSP00000206542:Q69H;ENSP00000451580:Q69H;ENSP00000450507:Q69H	ENSP00000206542:Q69H	Q	-	3	2	OSGEP	19990356	0.737000	0.28175	0.993000	0.49108	0.991000	0.79684	-0.099000	0.11007	1.393000	0.46605	0.655000	0.94253	CAG		0.498	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		8	172	8	172	---	---	---	---	A	20920516	C	A	20920516	1	1	128	0	1	0	0	0	0	0	0	0	11287	680	24	1		1	OSGEP	14	20920516	5'Flank	SNP	C	TCGA-G9-6342-01A-11D-1961-08		20920516	86429024	152	5790										
REC8	79711	broad.mit.edu	37	chr14	24648040	24648040	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccattgtgcccagccaccccCaaaagccctcaggcgagagc	9	18	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.chr14:24648040C>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.P373Q|REC8_ENST00000559919.1_Missense_Mutation_p.P373Q	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						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)		CAGCCACCCCCAAAAGCCCTC	0.582																																						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.(1117-1119)cCa>cAa		REC8 meiotic recombination protein							145	159	155					14																	24648040		1898	4120	6018	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648040C>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		14.37:g.24648040C>A			Somatic				REC8_ENST00000559919.1_Missense_Mutation_p.P373Q	p.P373Q			WXS	Illumina GAIIx	Phase_I	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	15	1717	+			374			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1118C>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215051	0.58452	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.33865	1.39	5.17	3.34	0.38264	.	0.274240	0.34268	N	0.004117	T	0.22781	0.0550	L	0.34521	1.04	0.20638	N	0.999877	B;B	0.17852	0.024;0.014	B;B	0.19391	0.025;0.011	T	0.20874	-1.0262	10	0.15499	T	0.54	-2.0656	6.5368	0.22359	0.1772:0.7316:0.0:0.0912	.	357;374	O95072-2;O95072	.;REC8_HUMAN	Q	373;356	ENSP00000308699:P373Q	ENSP00000308699:P373Q	P	+	2	0	REC8	23717880	0.174000	0.23070	0.134000	0.22075	0.020000	0.10135	1.247000	0.32815	0.746000	0.32786	0.457000	0.33378	CCA		0.582	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		8	358	8	358	---	---	---	---	A	24648040	C	A	24648040	1	1	128	0	1	0	0	0	0	0	0	0	13199	594	21	1		1	REC8	14	24648040	IGR	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3727524	24648040	82701500	153	5791										
RABGGTA	5875	broad.mit.edu	37	chr14	24734902	24734902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttggcacagcgggttaccCtgcaggttgaggaggaccag	16	10	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.chr14:24734902C>A	ENST00000399409.3	-	16	2106	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	TGM1_ENST00000206765.6_5'Flank|RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H|TGM1_ENST00000544573.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	541					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)		GCGGGTTACCCTGCAGGTTGA	0.622																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1621-1623)caG>caT		Rab geranylgeranyltransferase, alpha subunit							37	41	40					14																	24734902		2026	4189	6215	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734902C>A		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.1623G>T	14.37:g.24734902C>A	ENSP00000382341:p.Gln541His		Somatic				RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H	p.Q541H	NM_004581.5	NP_004572.3	WXS	Illumina GAIIx	Phase_I	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2106	-			541					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1623G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178110	0.38511	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.50277	0.75;0.75	5.67	5.67	0.87782	.	0.235425	0.38164	N	0.001793	T	0.24967	0.0606	N	0.04063	-0.285	0.35425	D	0.793585	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	10	0.28530	T	0.3	-14.0328	10.7327	0.46107	0.0:0.9133:0.0:0.0867	.	541	Q92696	PGTA_HUMAN	H	541	ENSP00000216840:Q541H;ENSP00000382341:Q541H	ENSP00000216840:Q541H	Q	-	3	2	RABGGTA	23804742	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.471000	0.22100	2.670000	0.90874	0.462000	0.41574	CAG		0.622	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		4	21	4	21	---	---	---	---	A	24734902	C	A	24734902	3	1	128	1	0	0	0	0	1	0	0	0	12967	680	24	1	84	1	RABGGTA	14	24734902	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	86862	24734902	82614638	154	5792										
PPP2R3C	55012	broad.mit.edu	37	chr14	35564358	35564358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttctttactgagcatgcCattgtgatctttatcaagat	6	8	4	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.chr14:35564358C>A	ENST00000261475.5	-	10	1224	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	291	EF-hand 1.				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)		CTGAGCATGCCATTGTGATCT	0.373																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(871-873)Ggc>Tgc		protein phosphatase 2, regulatory subunit B'', gamma							125	114	117					14																	35564358		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35564358C>A	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.871G>T	14.37:g.35564358C>A	ENSP00000261475:p.Gly291Cys		Somatic					p.G291C	NM_017917.2	NP_060387.2	WXS	Illumina GAIIx	Phase_I	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	1224	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		291			EF-hand 1.		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.871G>T	CCDS9654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.843916|4.843916	0.91197|0.91197	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000261475;ENST00000555219|ENST00000555614	T;T|.	0.80214|.	-1.31;-1.35|.	5.25|5.25	5.25|5.25	0.73442|0.73442	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84669|0.84669	0.5523|0.5523	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86883|0.86883	0.2043|0.2043	10|5	0.38643|.	T|.	0.18|.	-3.5159|-3.5159	19.203|19.203	0.93719|0.93719	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	291|.	Q969Q6|.	P2R3C_HUMAN|.	C|L	291;12|219	ENSP00000261475:G291C;ENSP00000452173:G12C|.	ENSP00000261475:G291C|.	G|W	-|-	1|2	0|0	PPP2R3C|PPP2R3C	34634109|34634109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.729000|7.729000	0.84864|0.84864	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.373	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		5	58	5	58	---	---	---	---	A	35564358	C	A	35564358	3	1	128	1	0	0	0	0	1	0	0	0	12390	594	21	1	506	1	PPP2R3C	14	35564358	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10829456	35564358	71785182	155	5793										
SEC23A	10484	broad.mit.edu	37	chr14	39543647	39543647	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgggacagcatttcatctCcaggagacctgtctgatcta	10	10	4	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.chr14:39543647C>A	ENST00000307712.6	-	9	1592	c.1075G>T	c.(1075-1077)Gag>Tag	p.E359*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330*|SEC23A_ENST00000537403.1_Nonsense_Mutation_p.E157*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	359					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)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATTTCATCTCCAGGAGACCT	0.343																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(469-471)Gag>Tag		Sec23 homolog A (S. cerevisiae)							130	133	132					14																	39543647		2203	4300	6503	SO:0001587	stop_gained	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39543647C>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1075G>T	14.37:g.39543647C>A	ENSP00000306881:p.Glu359*		Somatic				SEC23A_ENST00000307712.6_Nonsense_Mutation_p.E359*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330*	p.E157*			WXS	Illumina GAIIx	Phase_I	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	5	1671	-	Hepatocellular(127;0.213)		359					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.469G>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	43	10.027504	0.99320	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	.	.	.	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.2369	15.5369	0.76011	0.1392:0.8608:0.0:0.0	.	.	.	.	X	157;359;233;330;247	.	ENSP00000306881:E359X	E	-	1	0	SEC23A	38613398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.742000	0.85008	1.277000	0.44412	0.655000	0.94253	GAG		0.343	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			7	185	7	185	---	---	---	---	A	39543647	C	A	39543647	4	1	128	1	0	0	0	0	0	1	0	0	13991	864	30	3	1270	3	SEC23A	14	39543647	Nonsense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3979289	39543647	67805893	156	5794										
ZNF410	57862	broad.mit.edu	37	chr14	74364847	74364847	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagggaatgatttcctctcCagtgagagcacagacagtag	11	9	2	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.chr14:74364847C>A	ENST00000555044.1	+	5	656	c.462C>A	c.(460-462)tcC>tcA	p.S154S	ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000556797.1_Silent_p.S101S|RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Silent_p.S154S|ZNF410_ENST00000442160.3_Silent_p.S171S|ZNF410_ENST00000334521.4_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	154					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(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ATTTCCTCTCCAGTGAGAGCA	0.468																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(460-462)tcC>tcA		zinc finger protein 410							151	137	142					14																	74364847		2203	4300	6503	SO:0001819	synonymous_variant	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74364847C>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.462C>A	14.37:g.74364847C>A			Somatic				ZNF410_ENST00000556797.1_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S|ZNF410_ENST00000334521.4_Silent_p.S101S|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Silent_p.S154S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Silent_p.S171S	p.S154S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	WXS	Illumina GAIIx	Phase_I	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	5	656	+			154					B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	ENST00000555044.1	37	c.462C>A	CCDS9821.1																																																																																				0.468	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		6	141	6	141	---	---	---	---	A	74364847	C	A	74364847	2	1	128	1	0	0	0	0	0	0	0	1	17887	581	21	1		1	ZNF410	14	74364847	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	34821200	74364847	32984693	157	5795										
ZC3H14	79882	broad.mit.edu	37	chr14	89039278	89039278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaggacgtttgtgtgaacCagaggtgcttaacagcttag	12	7	0	2	rs548038372	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.chr14:89039278C>A	ENST00000251038.5	+	6	1013	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	263						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGTGTGAACCAGAGGTGCTT	0.398																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(787-789)cCa>cAa		zinc finger CCCH-type containing 14							104	102	103					14																	89039278		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039278C>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.788C>A	14.37:g.89039278C>A	ENSP00000251038:p.Pro263Gln		Somatic				ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q	p.P263Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	WXS	Illumina GAIIx	Phase_I	Q6PJT7	ZC3HE_HUMAN			6	1013	+			263					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.788C>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.942830|2.942830	0.53079|0.53079	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.479357|.	0.23537|.	N|.	0.047103|.	T|T	0.60573|0.60573	0.2279|0.2279	L|L	0.56769|0.56769	1.78|1.78	0.32892|0.32892	D|D	0.51196|0.51196	D;B;B;B;P;B|.	0.53151|.	0.958;0.343;0.27;0.056;0.773;0.321|.	P;B;B;B;B;B|.	0.48704|.	0.587;0.134;0.259;0.162;0.387;0.241|.	T|T	0.67711|0.67711	-0.5600|-0.5600	9|5	0.33940|.	T|.	0.23|.	-4.0483|-4.0483	13.5106|13.5106	0.61511|0.61511	0.0:0.929:0.0:0.071|0.0:0.929:0.0:0.071	.|.	263;244;263;263;263;263|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	Q|K	263;263;263;229;263;244;263;108;263;263;229|179	.|.	ENSP00000251038:P263Q|.	P|Q	+|+	2|1	0|0	ZC3H14|ZC3H14	88109031|88109031	0.907000|0.907000	0.30839|0.30839	0.964000|0.964000	0.40570|0.40570	0.790000|0.790000	0.44656|0.44656	2.763000|2.763000	0.47605|0.47605	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.398	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		5	92	5	92	---	---	---	---	A	89039278	C	A	89039278	3	1	128	1	0	0	0	0	1	0	0	0	17563	594	21	1	810	1	ZC3H14	14	89039278	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	14674431	89039278	18310262	158	5796										
AHNAK2	113146	broad.mit.edu	37	chr14	105405768	105405768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catttctctgttttatcctcCatgctggcaaggtcatgtcc	7	12	2	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.chr14:105405768C>A	ENST00000333244.5	-	7	16139	c.16020G>T	c.(16018-16020)atG>atT	p.M5340I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5340						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)			TTTTATCCTCCATGCTGGCAA	0.463																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16018-16020)atG>atT		AHNAK nucleoprotein 2							44	43	43					14																	105405768		1917	4130	6047	SO:0001583	missense	113146					nucleus		g.chr14:105405768C>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.16020G>T	14.37:g.105405768C>A	ENSP00000353114:p.Met5340Ile		Somatic				AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I	p.M5340I	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	16139	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5340					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16020G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516700	0.27123	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02812	4.15;6.01	4.13	-6.38	0.01957	.	1.437790	0.05327	U	0.527638	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	B	0.22746	0.074	B	0.26614	0.071	T	0.46803	-0.9165	10	0.30854	T	0.27	.	2.8444	0.05539	0.1156:0.1508:0.2285:0.5052	.	5340	Q8IVF2	AHNK2_HUMAN	I	338;5340	ENSP00000450998:M338I;ENSP00000353114:M5340I	ENSP00000353114:M5340I	M	-	3	0	AHNAK2	104476813	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.673000	0.05239	-1.188000	0.02705	0.561000	0.74099	ATG		0.463	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	34	4	34	---	---	---	---	A	105405768	C	A	105405768	3	1	128	1	0	0	0	0	1	0	0	0	415	594	21	1	1371	1	AHNAK2	14	105405768	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	16366490	105405768	1943772	159	5797										
TJP1	7082	broad.mit.edu	37	chr15	30092850	30092850	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactgcaacacaaacttaccCtgtgaagcgtcactgtatgt	7	11	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.chr15:30092850C>A	ENST00000346128.6	-	2	557	c.83G>T	c.(82-84)aGg>aTg	p.R28M	TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M|TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000495972.2_Splice_Site_p.R28M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	28	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)				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)		CAAACTTACCCTGTGAAGCGT	0.398																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				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.(82-84)aGg>aTg		tight junction protein 1							188	170	176					15																	30092850		1923	4134	6057	SO:0001630	splice_region_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30092850C>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.84+1G>T	15.37:g.30092850C>A			Somatic				TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000495972.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M	p.R28M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	WXS	Illumina GAIIx	Phase_I	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)	2	557	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	28			PDZ 1.		B4E3K1|Q2NKP3|Q4ZGJ6	Splice_Site	SNP	ENST00000346128.6	37	c.83G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883024	0.91740	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.78916	2.43	0.80722	D	1	P;P;B;D	0.89917	0.908;0.887;0.392;1.0	P;P;P;D	0.85130	0.784;0.678;0.576;0.997	T	0.73757	-0.3882	9	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	21;28;28;32	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	M	28;32;28;28;28	ENSP00000281537:R28M;ENSP00000382890:R32M;ENSP00000441202:R28M;ENSP00000348416:R28M	.	R	-	2	0	TJP1	27880142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.455000	0.73497	2.882000	0.98803	0.655000	0.94253	AGG		0.398	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	Missense_Mutation	5	84	5	84	---	---	---	---	A	30092850	C	A	30092850	5	1	128	1	0	0	0	0	0	0	1	0	15926	695	24	1	5271	1	TJP1	15	30092850	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08		30092850	72438542	160	5798										
BUB1B	701	broad.mit.edu	37	chr15	40457272	40457272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgaagccatgtccctggaGggagatgaatgggaactgag	16	6	0	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.chr15:40457272G>T	ENST00000287598.6	+	2	249	c.54G>T	c.(52-54)gaG>gaT	p.E18D	BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D|BUB1B_ENST00000560120.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	18					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)		TGTCCCTGGAGGGAGATGAAT	0.428			"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.(52-54)gaG>gaT		BUB1 mitotic checkpoint serine/threonine kinase B							115	110	112					15																	40457272		2203	4300	6503	SO:0001583	missense	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.chr15:40457272G>T	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.54G>T	15.37:g.40457272G>T	ENSP00000287598:p.Glu18Asp		Somatic				BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D|BUB1B_ENST00000560120.1_Intron	p.E18D	NM_001211.5	NP_001202	WXS	Illumina GAIIx	Phase_I	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	2	249	+		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)	18					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.54G>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471905	0.63737	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14266	2.52;2.52	5.77	1.82	0.25136	.	0.121926	0.53938	D	0.000059	T	0.08044	0.0201	L	0.47716	1.5	0.25862	N	0.983813	B	0.23490	0.086	B	0.17722	0.019	T	0.37384	-0.9708	10	0.05436	T	0.98	-9.2292	4.0953	0.09988	0.3575:0.0:0.4868:0.1558	.	18	O60566	BUB1B_HUMAN	D	18	ENSP00000287598:E18D;ENSP00000398470:E18D	ENSP00000287598:E18D	E	+	3	2	BUB1B	38244564	0.991000	0.36638	1.000000	0.80357	0.999000	0.98932	0.083000	0.14871	0.788000	0.33755	0.650000	0.86243	GAG		0.428	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			5	73	5	73	---	---	---	---	T	40457272	G	T	40457272	3	4	128	1	0	0	0	0	1	0	0	0	1571	991	35	1	60	1	BUB1B	15	40457272	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	10364422	40457272	62074120	161	5799										
RPAP1	26015	broad.mit.edu	37	chr15	41829206	41829206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctgagttggcatcaccacCgcccctatttcctttcttca	6	15	4	1	rs368858057		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.chr15:41829206C>A	ENST00000304330.4	-	2	234	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	40						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)		GCATCACCACCGCCCCTATTT	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.(118-120)Ggt>Tgt		RNA polymerase II associated protein 1							157	136	143					15																	41829206		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41829206C>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.118G>T	15.37:g.41829206C>A	ENSP00000306123:p.Gly40Cys		Somatic				RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	p.G40C	NM_015540.2	NP_056355.2	WXS	Illumina GAIIx	Phase_I	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)	2	234	-		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)	40					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.118G>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977142	0.34848	.	.	ENSG00000103932	ENST00000304330	D	0.83755	-1.76	5.11	0.961	0.19638	.	0.853507	0.10697	N	0.644517	T	0.70937	0.3281	N	0.22421	0.69	0.09310	N	1	P	0.40107	0.703	B	0.40940	0.344	T	0.61262	-0.7098	10	0.66056	D	0.02	1.0432	4.5226	0.11966	0.0:0.3649:0.3124:0.3227	.	40	Q9BWH6	RPAP1_HUMAN	C	40	ENSP00000306123:G40C	ENSP00000306123:G40C	G	-	1	0	RPAP1	39616498	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.032000	0.12266	0.025000	0.15241	-0.254000	0.11334	GGT		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		5	219	5	219	---	---	---	---	A	41829206	C	A	41829206	3	1	128	1	0	0	0	0	1	0	0	0	13541	652	23	1	4159	1	RPAP1	15	41829206	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1371934	41829206	60702186	162	5800										
DMXL2	23312	broad.mit.edu	37	chr15	51837907	51837907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggtaataaagtttctgccCagagccggcacacaccatca	8	13	2	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.chr15:51837907C>A	ENST00000251076.5	-	8	1090	c.803G>T	c.(802-804)tGg>tTg	p.W268L	DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	268						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			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)		AGTTTCTGCCCAGAGCCGGCA	0.418																																						ENST00000251076.5																			0				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.(802-804)tGg>tTg		Dmx-like 2							143	142	142					15																	51837907		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837907C>A	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.803G>T	15.37:g.51837907C>A	ENSP00000251076:p.Trp268Leu		Somatic				DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L	p.W268L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina GAIIx	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	8	1090	-			268					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.803G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481646	0.63849	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.17213	2.29;2.29;2.29	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.94021	3.485	0.41827	D	0.990052	P;D;B	0.76494	0.934;0.999;0.406	P;D;B	0.83275	0.616;0.996;0.234	T	0.67138	-0.5746	10	0.87932	D	0	.	20.1796	0.98194	0.0:1.0:0.0:0.0	.	268;268;268	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	L	268	ENSP00000251076:W268L;ENSP00000441858:W268L;ENSP00000400855:W268L	ENSP00000251076:W268L	W	-	2	0	DMXL2	49625199	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.445000	0.80570	2.784000	0.95788	0.655000	0.94253	TGG		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	198	7	198	---	---	---	---	A	51837907	C	A	51837907	3	1	128	1	0	0	0	0	1	0	0	0	4595	595	21	1	8454	1	DMXL2	15	51837907	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10008701	51837907	50693485	163	5801										
HERC1	8925	broad.mit.edu	37	chr15	64048723	64048723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcccataatcaccatctccCcaactgaagacttctccttc	2	17	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.chr15:64048723C>A	ENST00000443617.2	-	5	1533	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	482					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						CACCATCTCCCCAACTGAAGA	0.418																																						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.(1444-1446)tgG>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							125	117	120					15																	64048723		1869	4108	5977	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64048723C>A	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.1446G>T	15.37:g.64048723C>A	ENSP00000390158:p.Trp482Cys		Somatic					p.W482C	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			5	1533	-			482					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1446G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325734	0.81580	.	.	ENSG00000103657	ENST00000443617	D	0.92348	-3.02	5.14	5.14	0.70334	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000001	D	0.96497	0.8857	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.979;1.0	D;D	0.97110	0.962;1.0	D	0.96569	0.9421	10	0.56958	D	0.05	.	18.9606	0.92676	0.0:1.0:0.0:0.0	.	482;482	C9JUT5;Q15751	.;HERC1_HUMAN	C	482	ENSP00000390158:W482C	ENSP00000390158:W482C	W	-	3	0	HERC1	61835776	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.750000	0.85110	2.554000	0.86153	0.561000	0.74099	TGG		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	93	7	93	---	---	---	---	A	64048723	C	A	64048723	3	1	128	1	0	0	0	0	1	0	0	0	7057	624	22	1	13435	1	HERC1	15	64048723	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	12210816	64048723	38482669	164	5802										
SLC28A1	9154	broad.mit.edu	37	chr15	85476419	85476419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctctgtgatggctgcccCttgtgccttggccctctcca	10	16	2	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.chr15:85476419C>A	ENST00000286749.3	+	12	1217	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SLC28A1_ENST00000394573.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	376					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)	ATGGCTGCCCCTTGTGCCTTG	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.(1126-1128)cCt>cAt		solute carrier family 28 (concentrative nucleoside transporter), member 1							180	151	161					15																	85476419		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476419C>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.1127C>A	15.37:g.85476419C>A	ENSP00000286749:p.Pro376His		Somatic				SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.P376H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H	p.P376H	NM_004213.3	NP_004204.3	WXS	Illumina GAIIx	Phase_I	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1329	+			376					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1127C>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511980	0.85389	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	4.4	4.4	0.53042	Na dependent nucleoside transporter, C-terminal (1);	0.053668	0.85682	D	0.000000	T	0.49949	0.1587	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	0.996;0.999;0.999	T	0.70644	-0.4815	10	0.87932	D	0	-1.7702	14.5391	0.67980	0.0:1.0:0.0:0.0	.	376;376;376	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	H	376	ENSP00000440546:P376H;ENSP00000444700:P376H;ENSP00000286749:P376H;ENSP00000378074:P376H	ENSP00000286749:P376H	P	+	2	0	SLC28A1	83277423	1.000000	0.71417	0.928000	0.36995	0.990000	0.78478	7.388000	0.79795	2.268000	0.75426	0.563000	0.77884	CCT		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			8	187	8	187	---	---	---	---	A	85476419	C	A	85476419	3	1	128	1	0	0	0	0	1	0	0	0	14531	681	24	1	1240	1	SLC28A1	15	85476419	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	21427696	85476419	17054973	165	5803										
LRRK1	79705	broad.mit.edu	37	chr15	101606927	101606927	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcattgccgtcttaaaagccCgagagctgactccgcatggg	11	12	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.chr15:101606927C>A	ENST00000388948.3	+	33	6210	c.5851C>A	c.(5851-5853)Cga>Aga	p.R1951R	LRRK1_ENST00000284395.5_Silent_p.R1948R|RP11-505E24.2_ENST00000559857.1_RNA|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)			CTTAAAAGCCCGAGAGCTGAC	0.592																																						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.(5842-5844)Cga>Aga		leucine-rich repeat kinase 1							109	120	117					15																	101606927		2107	4243	6350	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.chr15:101606927C>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.5851C>A	15.37:g.101606927C>A			Somatic				LRRK1_ENST00000388948.3_Silent_p.R1951R|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	p.R1948R			WXS	Illumina GAIIx	Phase_I	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		34	6242	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1951						Silent	SNP	ENST00000388948.3	37	c.5842C>A	CCDS42086.1																																																																																				0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		6	178	6	178	---	---	---	---	A	101606927	C	A	101606927	2	1	128	1	0	0	0	0	0	0	0	1	9032	644	23	1		1	LRRK1	15	101606927	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	16130508	101606927	924465	166	5804										
CRAMP1L	57585	broad.mit.edu	37	chr16	1718167	1718167	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acattagcgactccatcattGagatcgccatcagctccggt	8	13	2	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.chr16:1718167G>T	ENST00000397412.3	+	18	3406	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481*|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1103	Ser-rich.					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						CTCCATCATTGAGATCGCCAT	0.597																																						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.(3307-3309)Gag>Tag		Crm, cramped-like (Drosophila)							62	63	63					16																	1718167		2163	4265	6428	SO:0001587	stop_gained	57585					nucleus	DNA binding	g.chr16:1718167G>T	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.3307G>T	16.37:g.1718167G>T	ENSP00000380559:p.Glu1103*		Somatic				CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481*	p.E1103*			WXS	Illumina GAIIx	Phase_I	Q96RY5	CRML_HUMAN			18	3406	+			1103			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Nonsense_Mutation	SNP	ENST00000397412.3	37	c.3307G>T	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	41	8.802715	0.98960	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-37.6147	19.2807	0.94051	0.0:0.0:1.0:0.0	.	.	.	.	X	1103;1103;1100;481	.	ENSP00000262317:E481X	E	+	1	0	CRAMP1L	1658168	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	9.710000	0.98732	2.563000	0.86464	0.655000	0.94253	GAG		0.597	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			7	100	7	100	---	---	---	---	T	1718167	G	T	1718167	4	4	128	1	0	0	0	0	0	1	0	0	3846	1291	45	3	3373	3	CRAMP1L	16	1718167	Nonsense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		1718167	88636586	167	5805										
UBN1	29855	broad.mit.edu	37	chr16	4927413	4927413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggcttgcactccagccCgccccatgcagcgcctctcc	10	20	1	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.chr16:4927413C>A	ENST00000396658.4	+	16	3996	c.3293C>A	c.(3292-3294)cCg>cAg	p.P1098Q	UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000545171.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1098					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						CACTCCAGCCCGCCCCATGCA	0.592																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3292-3294)cCg>cAg		ubinuclein 1							162	170	168					16																	4927413		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.chr16:4927413C>A	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.3293C>A	16.37:g.4927413C>A	ENSP00000379894:p.Pro1098Gln		Somatic				UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000545171.1_Intron	p.P1098Q	NM_016936.3	NP_058632.2	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			16	3996	+			1098					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.3293C>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695587	0.88830	.	.	ENSG00000118900	ENST00000262376;ENST00000396658	T;T	0.34072	1.38;1.38	5.14	5.14	0.70334	.	0.092643	0.47093	D	0.000259	T	0.57110	0.2031	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.55768	-0.8089	10	0.51188	T	0.08	-16.2556	17.7901	0.88550	0.0:1.0:0.0:0.0	.	1098	Q9NPG3	UBN1_HUMAN	Q	1098	ENSP00000262376:P1098Q;ENSP00000379894:P1098Q	ENSP00000262376:P1098Q	P	+	2	0	UBN1	4867414	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	5.653000	0.67967	2.667000	0.90743	0.563000	0.77884	CCG		0.592	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		8	322	8	322	---	---	---	---	A	4927413	C	A	4927413	3	1	128	1	0	0	0	0	1	0	0	0	16889	652	23	1	3355	1	UBN1	16	4927413	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3209246	4927413	85427340	168	5806										
ABCC11	85320	broad.mit.edu	37	chr16	48226509	48226509	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccctgaggagcagaccccCacacagatgaggagcagggc	13	13	0	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.chr16:48226509C>A	ENST00000394747.1	-	19	2977	c.2628G>T	c.(2626-2628)gtG>gtT	p.V876V	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V876V|ABCC11_ENST00000356608.2_Silent_p.V876V|ABCC11_ENST00000353782.5_Silent_p.V876V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	876	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)	AGCAGACCCCCACACAGATGA	0.572																																						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.(2626-2628)gtG>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							121	111	114					16																	48226509		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48226509C>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.2628G>T	16.37:g.48226509C>A			Somatic				ABCC11_ENST00000353782.5_Silent_p.V876V|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V876V|ABCC11_ENST00000356608.2_Silent_p.V876V	p.V876V	NM_033151.3	NP_149163.2	WXS	Illumina GAIIx	Phase_I	Q96J66	ABCCB_HUMAN			19	2977	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	876			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.2628G>T	CCDS10732.1																																																																																				0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	76	5	76	---	---	---	---	A	48226509	C	A	48226509	2	1	128	1	0	0	0	0	0	0	0	1	51	581	21	1		1	ABCC11	16	48226509	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	43299096	48226509	42128244	169	5807										
MMP2	4313	broad.mit.edu	37	chr16	55532277	55532277	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaccagcctgggactgccCcctgatgtccagcgagtgga	13	14	0	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.chr16:55532277C>A	ENST00000219070.4	+	11	2195	c.1686C>A	c.(1684-1686)ccC>ccA	p.P562P	MMP2_ENST00000543485.1_Silent_p.P486P|MMP2_ENST00000570308.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	562	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGGACTGCCCCCTGATGTCC	0.557																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1684-1686)ccC>ccA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						96	85	88					16																	55532277		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55532277C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1686C>A	16.37:g.55532277C>A			Somatic				MMP2_ENST00000543485.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P|MMP2_ENST00000570308.1_Silent_p.P486P	p.P562P	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	11	2195	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	562			Hemopexin-like 2.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1686C>A	CCDS10752.1																																																																																				0.557	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			6	101	6	101	---	---	---	---	A	55532277	C	A	55532277	2	1	128	1	0	0	0	0	0	0	0	1	9658	610	22	1		1	MMP2	16	55532277	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7305768	55532277	34822476	170	5808										
CES1	1066	broad.mit.edu	37	chr16	55844565	55844565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggcttctggaatcagttcCttagcaatgcactgaaatag	10	8	2	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.chr16:55844565C>A	ENST00000361503.4	-	11	1309	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	CES1_ENST00000422046.2_Missense_Mutation_p.K392N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N			P23141	EST1_HUMAN	carboxylesterase 1	393					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)	GAATCAGTTCCTTAGCAATGC	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1174-1176)aaG>aaT		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						136	145	142					16																	55844565		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.chr16:55844565C>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.1179G>T	16.37:g.55844565C>A	ENSP00000355193:p.Lys393Asn		Somatic				CES1_ENST00000361503.4_Missense_Mutation_p.K393N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N	p.K392N			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1457	-			393					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.1176G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647763	0.47258	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.10382	3.19;3.19;2.88	4.69	3.5	0.40072	Carboxylesterase, type B (1);	0.519271	0.19052	N	0.124008	T	0.15262	0.0368	L	0.51914	1.62	0.09310	N	1	B;B;B	0.34015	0.269;0.435;0.228	B;B;B	0.44108	0.343;0.441;0.232	T	0.07520	-1.0768	10	0.49607	T	0.09	.	8.726	0.34469	0.0:0.8744:0.0:0.1256	.	392;393;394	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	N	394;393;392;258	ENSP00000353720:K394N;ENSP00000355193:K393N;ENSP00000390492:K392N	ENSP00000353720:K394N	K	-	3	2	CES1	54402066	0.943000	0.32029	0.139000	0.22197	0.007000	0.05969	0.712000	0.25779	2.182000	0.69389	0.456000	0.33151	AAG		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		8	196	8	196	---	---	---	---	A	55844565	C	A	55844565	3	1	128	1	0	0	0	0	1	0	0	0	3269	680	24	1	540	1	CES1	16	55844565	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	312288	55844565	34510188	171	5809										
CDH5	1003	broad.mit.edu	37	chr16	66436961	66436961	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctcagctccctgggcacCgactcatccgactctgacgt	8	18	3	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.chr16:66436961C>A	ENST00000341529.3	+	12	2392	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	CDH5_ENST00000539168.1_Silent_p.T187T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	748	Ser-rich.				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)	CCCTGGGCACCGACTCATCCG	0.642																																						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.(2242-2244)acC>acA		cadherin 5, type 2 (vascular endothelium)																																				SO:0001819	synonymous_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.chr16:66436961C>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.2244C>A	16.37:g.66436961C>A			Somatic				CDH5_ENST00000539168.1_Silent_p.T187T	p.T748T	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2392	+		Ovarian(137;0.0955)	748			Ser-rich.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2244C>A	CCDS10804.1																																																																																				0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		4	31	4	31	---	---	---	---	A	66436961	C	A	66436961	2	1	128	1	0	0	0	0	0	0	0	1	3113	639	23	1		1	CDH5	16	66436961	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10592396	66436961	23917792	172	5810										
KCTD19	146212	broad.mit.edu	37	chr16	67327680	67327680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagggtggcctcctccaagGggctgctccgtgtggctgtc	16	13	0	0	rs570644111		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.chr16:67327680G>T	ENST00000304372.5	-	12	2040	c.1985C>A	c.(1984-1986)cCc>cAc	p.P662H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	662					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)		CTCCTCCAAGGGGCTGCTCCG	0.592																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1984-1986)cCc>cAc		potassium channel tetramerization domain containing 19							84	96	92					16																	67327680		2091	4221	6312	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327680G>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.1985C>A	16.37:g.67327680G>T	ENSP00000305702:p.Pro662His		Somatic					p.P662H	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2040	-		Ovarian(137;0.192)	662					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1985C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663364	0.14710	.	.	ENSG00000168676	ENST00000304372	T	0.57595	0.39	5.93	2.54	0.30619	.	1.036540	0.07637	N	0.929708	T	0.33818	0.0876	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.22386	0.039	T	0.27640	-1.0068	10	0.41790	T	0.15	-0.2526	9.1729	0.37093	0.0758:0.0:0.6537:0.2705	.	662	Q17RG1	KCD19_HUMAN	H	662	ENSP00000305702:P662H	ENSP00000305702:P662H	P	-	2	0	KCTD19	65885181	0.000000	0.05858	0.001000	0.08648	0.433000	0.31745	0.367000	0.20382	0.816000	0.34421	0.563000	0.77884	CCC		0.592	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		7	144	7	144	---	---	---	---	T	67327680	G	T	67327680	3	4	128	1	0	0	0	0	1	0	0	0	8106	1232	43	1	815	1	KCTD19	16	67327680	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	890719	67327680	23027073	173	5811										
RLTPR	146206	broad.mit.edu	37	chr16	67680686	67680686	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccgagaggagattcagtGggtgagggtagggccctttt	16	6	1	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.chr16:67680686G>T	ENST00000334583.6	+	7	864	c.536G>T	c.(535-537)tGg>tTg	p.W179L	RLTPR_ENST00000545661.1_Splice_Site_p.W179L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	179					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)		GAGATTCAGTGGGTGAGGGTA	0.587																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(535-537)tGg>tTg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							103	102	102					16																	67680686		1989	4202	6191	SO:0001630	splice_region_variant	146206							g.chr16:67680686G>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.537+1G>T	16.37:g.67680686G>T			Somatic				RLTPR_ENST00000545661.1_Splice_Site_p.W179L	p.W179L	NM_001013838.1	NP_001013860.1	WXS	Illumina GAIIx	Phase_I	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	7	864	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	179					B8X2Z3	Splice_Site	SNP	ENST00000334583.6	37	c.536G>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955020	0.92726	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.49139	0.79;0.79	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.73059	-0.4102	10	0.59425	D	0.04	-6.9667	17.1632	0.86809	0.0:0.0:1.0:0.0	.	179;179	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	179	ENSP00000334958:W179L;ENSP00000441481:W179L	ENSP00000334958:W179L	W	+	2	0	RLTPR	66238187	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.100000	0.94213	2.573000	0.86826	0.561000	0.74099	TGG		0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	Missense_Mutation	6	138	6	138	---	---	---	---	T	67680686	G	T	67680686	5	4	128	1	0	0	0	0	0	0	1	0	13394	1362	47	1	562	1	RLTPR	16	67680686	Splice_Site	SNP	G	TCGA-G9-6342-01A-11D-1961-08	353006	67680686	22674067	174	5812										
AARS	118460	broad.mit.edu	37	chr16	70287895	70287895	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttagggatttgagagtctccCgcaattcatccttctgccac	8	12	3	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.chr16:70287895C>A	ENST00000435634.1	-	0	0				AARS_ENST00000261772.8_Missense_Mutation_p.R816L|AARS_ENST00000564359.1_5'Flank	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)										GAGAGTCTCCCGCAATTCATC	0.557											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.(2446-2448)cGg>cTg		alanyl-tRNA synthetase	L-Alanine(DB00160)						116	112	114					16																	70287895		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.chr16:70287895C>A	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.70287895C>A	Exception_encountered		Somatic	OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.R816L	NM_001605.2	NP_001596.2	WXS	Illumina GAIIx	Phase_I	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2590	-		Ovarian(137;0.0365)	816						Missense_Mutation	SNP	ENST00000435634.1	37	c.2447G>T	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.293778	0.80914	.	.	ENSG00000090861	ENST00000261772	T	0.64803	-0.12	5.53	5.53	0.82687	.	0.100193	0.64402	D	0.000002	T	0.78660	0.4318	M	0.79123	2.44	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64506	0.926;0.904	T	0.80169	-0.1494	10	0.56958	D	0.05	-8.7563	16.9596	0.86269	0.0:1.0:0.0:0.0	.	824;816	E7ETK8;P49588	.;SYAC_HUMAN	L	816	ENSP00000261772:R816L	ENSP00000261772:R816L	R	-	2	0	AARS	68845396	1.000000	0.71417	0.932000	0.37286	0.901000	0.52897	5.874000	0.69652	2.599000	0.87857	0.655000	0.94253	CGG		0.557	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		5	157	5	157	---	---	---	---	A	70287895	C	A	70287895	1	1	128	0	1	0	0	0	0	0	0	0	19	652	23	1		1	AARS	16	70287895	5'Flank	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2607209	70287895	20066858	175	5813										
ATP2C2	9914	broad.mit.edu	37	chr16	84473064	84473064	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctctgttctgacaagacGgggactctgactgccaatga	11	10	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.chr16:84473064G>T	ENST00000262429.4	+	13	1232	c.1143G>T	c.(1141-1143)acG>acT	p.T381T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.T381T	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	381					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						CTGACAAGACGGGGACTCTGA	0.502																																						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.(1141-1143)acG>acT		ATPase, Ca++ transporting, type 2C, member 2							245	262	256					16																	84473064		2144	4256	6400	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.chr16:84473064G>T	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.1143G>T	16.37:g.84473064G>T			Somatic				ATP2C2_ENST00000262429.4_Silent_p.T381T|ATP2C2_ENST00000420010.2_3'UTR	p.T381T			WXS	Illumina GAIIx	Phase_I	O75185	AT2C2_HUMAN			13	1232	+			381					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1143G>T	CCDS42207.1																																																																																				0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		6	182	6	182	---	---	---	---	T	84473064	G	T	84473064	2	4	128	1	0	0	0	0	0	0	0	1	1144	1103	39	1		1	ATP2C2	16	84473064	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	14185169	84473064	5881689	176	5814										
TCF25	22980	broad.mit.edu	37	chr16	89965053	89965053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagtactgcaagctcatcCtgaggtgagtgtctgctcag	13	9	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.chr16:89965053C>A	ENST00000263346.8	+	10	1167	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	TCF25_ENST00000263347.7_Missense_Mutation_p.L136M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	371					heart development (GO:0007507)|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)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAAGCTCATCCTGAGGTGAGT	0.617																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1111-1113)Ctg>Atg		transcription factor 25 (basic helix-loop-helix)							66	71	69					16																	89965053		2198	4300	6498	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89965053C>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1111C>A	16.37:g.89965053C>A	ENSP00000263346:p.Leu371Met		Somatic				TCF25_ENST00000263347.7_Missense_Mutation_p.L136M	p.L371M	NM_014972.2	NP_055787.1	WXS	Illumina GAIIx	Phase_I	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	10	1167	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	371					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1111C>A	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857683	0.71834	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	T;T	0.80480	-1.38;-1.38	5.63	4.68	0.58851	Tetratricopeptide-like helical (1);	0.073354	0.64402	D	0.000020	D	0.91379	0.7280	M	0.92268	3.29	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.74348	0.936;0.983	D	0.93160	0.6557	10	0.87932	D	0	.	13.7874	0.63119	0.0:0.9262:0.0:0.0738	.	136;371	Q9H384;Q9BQ70	.;TCF25_HUMAN	M	371;136	ENSP00000263346:L371M;ENSP00000263347:L136M	ENSP00000263346:L371M	L	+	1	2	TCF25	88492554	0.997000	0.39634	0.999000	0.59377	0.729000	0.41735	2.826000	0.48104	1.381000	0.46364	0.561000	0.74099	CTG		0.617	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		5	69	5	69	---	---	---	---	A	89965053	C	A	89965053	3	1	128	1	0	0	0	0	1	0	0	0	15690	680	24	1	1149	1	TCF25	16	89965053	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	5491989	89965053	389700	177	5815										
MNT	4335	broad.mit.edu	37	chr17	2290904	2290904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggtgggcccaggcccgccCggtcctcctccatatcctcg	11	18	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.chr17:2290904C>A	ENST00000174618.4	-	6	1445	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	347					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)		CAGGCCCGCCCGGTCCTCCTC	0.672																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1039-1041)cGg>cTg		MAX network transcriptional repressor							125	137	133					17																	2290904		2197	4283	6480	SO:0001583	missense	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.chr17:2290904C>A	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.1040G>T	17.37:g.2290904C>A	ENSP00000174618:p.Arg347Leu		Somatic				MNT_ENST00000575374.1_5'UTR	p.R347L	NM_020310.2	NP_064706.1	WXS	Illumina GAIIx	Phase_I	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1445	-			347					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1040G>T	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060011	0.55325	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.81579	-1.51	4.69	3.67	0.42095	.	0.689267	0.13078	N	0.415530	T	0.72087	0.3417	L	0.51422	1.61	0.39143	D	0.962086	P	0.44380	0.834	B	0.38194	0.267	T	0.65907	-0.6054	10	0.27082	T	0.32	-9.5148	8.2222	0.31547	0.0:0.8636:0.0:0.1364	.	347	Q99583	MNT_HUMAN	L	347	ENSP00000174618:R347L	ENSP00000174618:R347L	R	-	2	0	MNT	2237654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.416000	0.44644	0.811000	0.34303	0.591000	0.81541	CGG		0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		7	289	7	289	---	---	---	---	A	2290904	C	A	2290904	3	1	128	1	0	0	0	0	1	0	0	0	9678	652	23	1	712	1	MNT	17	2290904	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		2290904	78904306	178	5816										
ZNF232	7775	broad.mit.edu	37	chr17	5009563	5009563	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatggtctttcttccctgtGggaatttccttatggatgac	9	9	3	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.chr17:5009563G>T	ENST00000250076.3	-	5	1545	c.891C>A	c.(889-891)ccC>ccA	p.P297P	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.P288P	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	270					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						TCTTCCCTGTGGGAATTTCCT	0.458																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(889-891)ccC>ccA		zinc finger protein 232							104	103	103					17																	5009563		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009563G>T	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.891C>A	17.37:g.5009563G>T			Somatic				ZNF232_ENST00000575898.1_Silent_p.P288P|ZNF232_ENST00000416429.2_3'UTR	p.P297P	NM_014519.2	NP_055334.2	WXS	Illumina GAIIx	Phase_I	Q9UNY5	ZN232_HUMAN			5	1545	-			270						Silent	SNP	ENST00000250076.3	37	c.891C>A	CCDS11068.1																																																																																				0.458	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		5	91	5	91	---	---	---	---	T	5009563	G	T	5009563	2	4	128	1	0	0	0	0	0	0	0	1	17782	1335	47	1		1	ZNF232	17	5009563	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	2718659	5009563	76185647	179	5817										
KIAA0753	9851	broad.mit.edu	37	chr17	6513403	6513403	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccggttcatttttaatctGgatgaaactgttgtctgctg	10	7	3	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.chr17:6513403G>T	ENST00000361413.3	-	9	1981	c.1623C>A	c.(1621-1623)tcC>tcA	p.S541S	KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000572370.1_Silent_p.S242S|KIAA0753_ENST00000589033.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	541						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTTTAATCTGGATGAAACTG	0.473																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1621-1623)tcC>tcA		KIAA0753							170	169	169					17																	6513403		1919	4128	6047	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6513403G>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.1623C>A	17.37:g.6513403G>T			Somatic				KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.S242S	p.S541S	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	9	1981	-			541					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.1623C>A	CCDS42247.1																																																																																				0.473	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	104	5	104	---	---	---	---	T	6513403	G	T	6513403	2	4	128	1	0	0	0	0	0	0	0	1	8191	1335	47	1		1	KIAA0753	17	6513403	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1503840	6513403	74681807	180	5818										
GPS2	2874	broad.mit.edu	37	chr17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctctgtcagctgccatgaGggtgcctgggcgattgtgtc	16	10	2	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	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V			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		Somatic				RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V	p.L144V			WXS	Illumina GAIIx	Phase_I	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	35	90	---	---	---	---	C	7217275	G	C	7217275	3	2	128	1	0	0	0	0	1	0	0	0	6733	1000	35	4	577	4	GPS2	17	7217275	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	703872	7217275	73977935	181	5819										
POLR2A	5430	broad.mit.edu	37	chr17	7399794	7399794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggatatcctggctaagtcCaagggacagcccaagaagcg	12	10	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.chr17:7399794C>A	ENST00000322644.6	+	4	798	c.399C>A	c.(397-399)tcC>tcA	p.S133S	POLR2A_ENST00000572844.1_Silent_p.S133S	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	133					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)				TGGCTAAGTCCAAGGGACAGC	0.567																																						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.(397-399)tcC>tcA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							131	131	131					17																	7399794		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:7399794C>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.399C>A	17.37:g.7399794C>A			Somatic				POLR2A_ENST00000572844.1_Silent_p.S133S	p.S133S	NM_000937.4	NP_000928	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			4	798	+		Prostate(122;0.173)	133					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.399C>A	CCDS32548.1																																																																																				0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		8	137	8	137	---	---	---	---	A	7399794	C	A	7399794	2	1	128	1	0	0	0	0	0	0	0	1	12214	581	21	1		1	POLR2A	17	7399794	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	182519	7399794	73795416	182	5820										
DNAH2	146754	broad.mit.edu	37	chr17	7700502	7700502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcttcccaggtgttccaGggcatgcttagagccaacaa	9	13	1	1	rs147908045	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.chr17:7700502G>T	ENST00000572933.1	+	51	9332	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2624	AAA 3. {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)				AGGTGTTCCAGGGCATGCTTA	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.(7870-7872)caG>caT		dynein, axonemal, heavy chain 2							144	130	135					17																	7700502		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.chr17:7700502G>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.7872G>T	17.37:g.7700502G>T	ENSP00000458355:p.Gln2624His		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H	p.Q2624H			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			51	9332	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2624			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7872G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501991	0.64298	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.45276	0.9	5.45	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74937	-0.3494	10	0.66056	D	0.02	.	8.9706	0.35903	0.2371:0.0:0.7629:0.0	.	2624	Q9P225	DYH2_HUMAN	H	2624	ENSP00000373825:Q2624H	ENSP00000353818:Q2624H	Q	+	3	2	DNAH2	7641227	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.766000	0.38491	0.867000	0.35654	-0.142000	0.14014	CAG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	149	7	149	---	---	---	---	T	7700502	G	T	7700502	3	4	128	1	0	0	0	0	1	0	0	0	4602	991	35	1	8070	1	DNAH2	17	7700502	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	300708	7700502	73494708	183	5821										
MYH10	4628	broad.mit.edu	37	chr17	8379196	8379196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcatcgtcggagagctccaGggaagctccttcaaggtgca	13	11	2	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.chr17:8379196G>T	ENST00000269243.4	-	41	5995	c.5857C>A	c.(5857-5859)Ctg>Atg	p.L1953M	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000360416.3_Missense_Mutation_p.L1984M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1953					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						GAGAGCTCCAGGGAAGCTCCT	0.582																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5950-5952)Ctg>Atg		myosin, heavy chain 10, non-muscle							137	130	133					17																	8379196		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.chr17:8379196G>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.5857C>A	17.37:g.8379196G>T	ENSP00000269243:p.Leu1953Met		Somatic				NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000269243.4_Missense_Mutation_p.L1953M	p.L1984M	NM_001256012.1	NP_001242941.1	WXS	Illumina GAIIx	Phase_I	P35580	MYH10_HUMAN			43	6088	-			1953					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5950C>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190346	0.21954	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86097	-2.05;-2.07;-2.07;-2.06	4.89	4.89	0.63831	.	0.081495	0.51477	D	0.000090	T	0.74129	0.3676	N	0.08118	0	0.35663	D	0.8127	P;P;B	0.41131	0.468;0.739;0.452	B;B;B	0.43082	0.143;0.407;0.227	T	0.80694	-0.1268	10	0.44086	T	0.13	.	12.6379	0.56692	0.0811:0.0:0.9189:0.0	.	1962;1984;1953	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	M	1953;1984;1974;1969	ENSP00000269243:L1953M;ENSP00000353590:L1984M;ENSP00000379539:L1974M;ENSP00000369315:L1969M	ENSP00000269243:L1953M	L	-	1	2	MYH10	8319921	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.759000	0.38420	2.681000	0.91329	0.655000	0.94253	CTG		0.582	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	156	7	156	---	---	---	---	T	8379196	G	T	8379196	3	4	128	1	0	0	0	0	1	0	0	0	10030	991	35	1	77	1	MYH10	17	8379196	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	678694	8379196	72816014	184	5822										
GLP2R	9340	broad.mit.edu	37	chr17	9739702	9739702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtaggcatattttgtaacGggacatttgatcagtacgtg	11	6	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.chr17:9739702G>T	ENST00000262441.5	+	3	805	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	98					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.G98W(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ATTTTGTAACGGGACATTTGA	0.483																																						ENST00000262441.5																			1	Substitution - Missense(1)	p.G98W(1)	lung(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(292-294)Ggg>Tgg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						320	287	298					17																	9739702		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.chr17:9739702G>T	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.292G>T	17.37:g.9739702G>T	ENSP00000262441:p.Gly98Trp		Somatic				GLP2R_ENST00000574745.1_5'UTR	p.G98W	NM_004246.1	NP_004237.1	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			3	805	+			98					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.292G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862323	0.51482	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.65549	-0.16	5.58	5.58	0.84498	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.38720	N	0.001594	T	0.77329	0.4114	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77981	-0.2383	10	0.62326	D	0.03	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	98	O95838	GLP2R_HUMAN	W	98;73;98	ENSP00000262441:G98W	ENSP00000262441:G98W	G	+	1	0	GLP2R	9680427	1.000000	0.71417	0.765000	0.31456	0.092000	0.18411	8.601000	0.90864	2.640000	0.89533	0.563000	0.77884	GGG		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			6	199	6	199	---	---	---	---	T	9739702	G	T	9739702	3	4	128	1	0	0	0	0	1	0	0	0	6453	1116	39	1	302	1	GLP2R	17	9739702	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1360506	9739702	71455508	185	5823										
SMCR8	140775	broad.mit.edu	37	chr17	18220835	18220835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggcagcatagaaaacaccCcatcacaaatagactcctcc	5	14	1	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.chr17:18220835C>A	ENST00000406438.3	+	1	2212	c.1732C>A	c.(1732-1734)Cca>Aca	p.P578T	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	578						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						AGAAAACACCCCATCACAAAT	0.537																																						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.(1732-1734)Cca>Aca		Smith-Magenis syndrome chromosome region, candidate 8							99	108	105					17																	18220835		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220835C>A	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.1732C>A	17.37:g.18220835C>A	ENSP00000385025:p.Pro578Thr		Somatic					p.P578T	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	2212	+			578					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1732C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303868	0.01353	.	.	ENSG00000176994	ENST00000406438	T	0.30714	1.52	5.63	-5.77	0.02369	.	0.635334	0.13350	N	0.394465	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.38779	-0.9645	10	0.08599	T	0.76	-47.7591	7.5318	0.27687	0.0:0.1407:0.3424:0.5169	.	578	Q8TEV9	SMCR8_HUMAN	T	578	ENSP00000385025:P578T	ENSP00000385025:P578T	P	+	1	0	SMCR8	18161560	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.105000	0.10907	-0.754000	0.04715	-0.150000	0.13652	CCA		0.537	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		7	137	7	137	---	---	---	---	A	18220835	C	A	18220835	3	1	128	1	0	0	0	0	1	0	0	0	14792	623	22	1	1734	1	SMCR8	17	18220835	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8481133	18220835	62974375	186	5824										
PROCA1	6830	broad.mit.edu	37	chr17	27031418	27031418	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaggttgggcccgcgcccCgggagctgctgctatcctct	14	15	1	0	rs143668972		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.chr17:27031418C>A	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.R88L|PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						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)					GCCCGCGCCCCGGGAGCTGCT	0.627																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(262-264)cGg>cTg		protein interacting with cyclin A1							92	101	98					17																	27031418		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031418C>A	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			17.37:g.27031418C>A			Somatic				PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron	p.R88L	NM_152465.1	NP_689678.1	WXS	Illumina GAIIx	Phase_I	Q8NCQ7	PRCA1_HUMAN			3	456	-	Lung NSC(42;0.00431)		116					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.263G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	c	8.742	0.919188	0.17982	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.04156	3.69;3.69	4.52	-4.61	0.03380	Phospholipase A2 (2);	0.359766	0.27787	N	0.017843	T	0.05640	0.0148	L	0.46157	1.445	0.09310	N	1	P;P;P	0.38597	0.639;0.586;0.586	B;B;B	0.42593	0.392;0.272;0.272	T	0.05435	-1.0885	10	0.46703	T	0.11	0.849	11.2591	0.49071	0.0:0.3905:0.0:0.6095	.	116;90;88	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	L	88;90;116;90	ENSP00000301039:R88L;ENSP00000411400:R90L	ENSP00000301039:R88L	R	-	2	0	PROCA1	24055545	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.357000	0.01086	-1.248000	0.02503	-0.726000	0.03593	CGG		0.627	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		6	202	6	202	---	---	---	---	A	27031418	C	A	27031418	1	1	128	0	1	0	0	0	0	0	0	0	12546	652	23	1		1	PROCA1	17	27031418	IGR	SNP	C	TCGA-G9-6342-01A-11D-1961-08	8810583	27031418	54163792	187	5825										
FNDC8	54752	broad.mit.edu	37	chr17	33454224	33454224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaacaaactcagcttctccCcaatggccaagaatgcagaa	7	12	2	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.chr17:33454224C>A	ENST00000158009.5	+	2	488	c.373C>A	c.(373-375)Cca>Aca	p.P125T		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	125						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAGCTTCTCCCCAATGGCCAA	0.572																																						ENST00000158009.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11						c.(373-375)Cca>Aca		fibronectin type III domain containing 8							130	134	132					17																	33454224		2203	4300	6503	SO:0001583	missense	54752							g.chr17:33454224C>A	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.373C>A	17.37:g.33454224C>A	ENSP00000158009:p.Pro125Thr		Somatic					p.P125T	NM_017559.2	NP_060029.1	WXS	Illumina GAIIx	Phase_I	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	488	+		Ovarian(249;0.17)	125					B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	c.373C>A	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335984	0.05278	.	.	ENSG00000073598	ENST00000158009	T	0.29142	1.58	5.38	1.88	0.25563	.	0.519546	0.16435	N	0.214543	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23691	-1.0181	10	0.23891	T	0.37	-2.3876	3.7354	0.08508	0.3603:0.0945:0.0:0.5452	.	125	Q8TC99	FNDC8_HUMAN	T	125	ENSP00000158009:P125T	ENSP00000158009:P125T	P	+	1	0	FNDC8	30478337	0.011000	0.17503	0.007000	0.13788	0.074000	0.17049	0.752000	0.26362	0.111000	0.17947	-0.302000	0.09304	CCA		0.572	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		7	210	7	210	---	---	---	---	A	33454224	C	A	33454224	3	1	128	1	0	0	0	0	1	0	0	0	5974	623	22	1	379	1	FNDC8	17	33454224	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	6422806	33454224	47740986	188	5826										
GPR179	440435	broad.mit.edu	37	chr17	36485797	36485797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttcctgccacccgacagGggtttcttttgattgcttga	10	11	1	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.chr17:36485797G>T	ENST00000342292.4	-	11	3675	c.3655C>A	c.(3655-3657)Cct>Act	p.P1219T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1219					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)				CACCCGACAGGGGTTTCTTTT	0.567																																						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.(3655-3657)Cct>Act		G protein-coupled receptor 179							116	123	121					17																	36485797		1915	4123	6038	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485797G>T		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.3655C>A	17.37:g.36485797G>T	ENSP00000345060:p.Pro1219Thr		Somatic					p.P1219T	NM_001004334.2	NP_001004334.2	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			11	3675	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1219						Missense_Mutation	SNP	ENST00000342292.4	37	c.3655C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434095	0.12045	.	.	ENSG00000188888	ENST00000342292	T	0.54071	0.59	5.32	2.11	0.27256	.	0.116409	0.39475	N	0.001341	T	0.37758	0.1015	L	0.43152	1.355	0.09310	N	1	P	0.50272	0.933	B	0.41440	0.357	T	0.18524	-1.0334	10	0.30078	T	0.28	-3.6372	5.284	0.15690	0.0796:0.1424:0.6307:0.1472	.	1219	Q6PRD1	GP179_HUMAN	T	1219	ENSP00000345060:P1219T	ENSP00000345060:P1219T	P	-	1	0	GPR179	33739323	0.003000	0.15002	0.015000	0.15790	0.007000	0.05969	0.433000	0.21477	0.772000	0.33382	0.407000	0.27541	CCT		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			7	224	7	224	---	---	---	---	T	36485797	G	T	36485797	3	4	128	1	0	0	0	0	1	0	0	0	6674	1232	43	1	3452	1	GPR179	17	36485797	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3031573	36485797	44709413	189	5827										
MED1	5469	broad.mit.edu	37	chr17	37565755	37565755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctccaagcattggcacccCcaaagtatttagtgcctgag	8	13	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.chr17:37565755C>A	ENST00000300651.6	-	17	2942	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	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)		ATTGGCACCCCCAAAGTATTT	0.428										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.(2719-2721)Ggg>Tgg		mediator complex subunit 1							129	131	130					17																	37565755		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.chr17:37565755C>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.2719G>T	17.37:g.37565755C>A	ENSP00000300651:p.Gly907Trp	HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Intron	p.G907W	NM_004774.3	NP_004765.2	WXS	Illumina GAIIx	Phase_I	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	2942	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	907			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2719G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183488	0.57800	.	.	ENSG00000125686	ENST00000300651	T	0.40225	1.04	5.65	5.65	0.86999	.	.	.	.	.	T	0.54143	0.1840	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56475	-0.7973	9	0.72032	D	0.01	-1.9484	19.9142	0.97043	0.0:1.0:0.0:0.0	.	907	Q15648	MED1_HUMAN	W	907	ENSP00000300651:G907W	ENSP00000300651:G907W	G	-	1	0	MED1	34819281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.760000	0.74939	2.941000	0.99782	0.655000	0.94253	GGG		0.428	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		8	230	8	230	---	---	---	---	A	37565755	C	A	37565755	3	1	128	1	0	0	0	0	1	0	0	0	9425	623	22	1	2030	1	MED1	17	37565755	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1079958	37565755	43629455	190	5828										
CDK12	51755	broad.mit.edu	37	chr17	37686906	37686906	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaggccccctgagcccccCggacctccaccgccgccacc	9	23	0	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.chr17:37686906C>A	ENST00000447079.4	+	14	3843	c.3810C>A	c.(3808-3810)ccC>ccA	p.P1270P	CDK12_ENST00000430627.2_Silent_p.P1261P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1270	Poly-Pro.				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						CTGAGCCCCCCGGACCTCCAC	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.(3808-3810)ccC>ccA		cyclin-dependent kinase 12							84	113	103					17																	37686906		2194	4292	6486	SO:0001819	synonymous_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.chr17:37686906C>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.3810C>A	17.37:g.37686906C>A		TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Silent_p.P1261P	p.P1270P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			14	3843	+			1270			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3810C>A	CCDS11337.1																																																																																				0.577	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	308	7	308	---	---	---	---	A	37686906	C	A	37686906	2	1	128	1	0	0	0	0	0	0	0	1	3128	639	23	1		1	CDK12	17	37686906	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	121151	37686906	43508304	191	5829										
RAPGEFL1	51195	broad.mit.edu	37	chr17	38345151	38345151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccagccacccagcaagcaGgtgaagccactcttccgcca	8	17	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.chr17:38345151G>T	ENST00000456989.2	+	5	460	c.414G>T	c.(412-414)caG>caT	p.Q138H	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.Q83H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	289					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCAAGCAGGTGAAGCCAC	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(247-249)caG>caT		Rap guanine nucleotide exchange factor (GEF)-like 1							52	52	52					17																	38345151		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345151G>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"Link guanine nucleotide exchange factor II"		"RAP guanine-nucleotide-exchange factor (GEF)-like 1"				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.414G>T	17.37:g.38345151G>T	ENSP00000394530:p.Gln138His		Somatic				RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q138H|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H	p.Q83H	NM_016339.3	NP_057423.1	WXS	Illumina GAIIx	Phase_I	Q9UHV5	RPGFL_HUMAN			5	739	+			289			Gly-rich.			Missense_Mutation	SNP	ENST00000456989.2	37	c.249G>T		.	.	.	.	.	.	.	.	.	.	G	19.60	3.857550	0.71834	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000538981	T;T;T;T;T;T	0.46819	1.55;0.86;1.55;1.44;1.55;0.86	5.73	2.2	0.27929	Ras guanine nucleotide exchange factor, domain (1);	0.157967	0.44688	D	0.000421	T	0.48768	0.1518	L	0.36672	1.1	0.48901	D	0.999725	P;P	0.50943	0.939;0.94	P;P	0.55667	0.781;0.635	T	0.49762	-0.8905	10	0.87932	D	0	.	9.9365	0.41554	0.3145:0.0:0.6855:0.0	.	19;289	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	H	138;83;132;83;288;83;83	ENSP00000394530:Q138H;ENSP00000440226:Q83H;ENSP00000438631:Q132H;ENSP00000264644:Q288H;ENSP00000408322:Q83H;ENSP00000441059:Q83H	ENSP00000264644:Q288H	Q	+	3	2	RAPGEFL1	35598677	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.242000	0.32755	0.767000	0.33267	0.655000	0.94253	CAG		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		5	83	5	83	---	---	---	---	T	38345151	G	T	38345151	3	4	128	1	0	0	0	0	1	0	0	0	13049	991	35	1	259	1	RAPGEFL1	17	38345151	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	658245	38345151	42850059	192	5830										
HSPB9	94086	broad.mit.edu	37	chr17	40275108	40275108	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccaatggctgatggtgacCggacagcagcaactggacgt	15	10	0	2	rs150293597	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.chr17:40275108C>A	ENST00000355067.3	+	1	353	c.240C>A	c.(238-240)acC>acA	p.T80T	KAT2A_ENST00000225916.5_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	80					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGATGGTGACCGGACAGCAGC	0.592																																						ENST00000355067.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4						c.(238-240)acC>acA		heat shock protein, alpha-crystallin-related, B9							117	104	108					17																	40275108		2203	4300	6503	SO:0001819	synonymous_variant	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275108C>A	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"Heat shock proteins / HSPB"	30589	protein-coding gene	gene with protein product	"cancer/testis antigen 51"	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.240C>A	17.37:g.40275108C>A			Somatic				CTD-2132N18.3_ENST00000592574.1_Intron	p.T80T	NM_033194.2	NP_149971.1	WXS	Illumina GAIIx	Phase_I	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	353	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	80					B3KSG6|Q52LB4	Silent	SNP	ENST00000355067.3	37	c.240C>A	CCDS11418.1																																																																																				0.592	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		6	128	6	128	---	---	---	---	A	40275108	C	A	40275108	2	1	128	1	0	0	0	0	0	0	0	1	7424	639	23	1		1	HSPB9	17	40275108	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1929957	40275108	40920102	193	5831										
AOC2	314	broad.mit.edu	37	chr17	40997529	40997529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccaaatggagcttcatccCtgaggtctcggaactctcca	8	14	3	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.chr17:40997529C>A	ENST00000253799.3	+	1	913	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	AOC2_ENST00000452774.2_Missense_Mutation_p.L296M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	296					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)		AGCTTCATCCCTGAGGTCTCG	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.(886-888)Ctg>Atg		amine oxidase, copper containing 2 (retina-specific)							87	88	88					17																	40997529		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.chr17:40997529C>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.886C>A	17.37:g.40997529C>A	ENSP00000253799:p.Leu296Met		Somatic				AOC2_ENST00000452774.2_Missense_Mutation_p.L296M	p.L296M	NM_009590.2	NP_033720.2	WXS	Illumina GAIIx	Phase_I	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	913	+		Breast(137;0.000143)	296					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.886C>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.141974	0.21205	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.02177	4.41;4.41	5.32	1.65	0.23941	Copper amine oxidase, N-terminal (1);	0.157494	0.45361	D	0.000362	T	0.02929	0.0087	N	0.08118	0	0.33990	D	0.649019	D;D	0.64830	0.99;0.994	D;D	0.67231	0.944;0.95	T	0.55817	-0.8081	10	0.37606	T	0.19	-32.2791	6.4917	0.22119	0.1347:0.5708:0.0:0.2945	.	296;296	O75106;O75106-2	AOC2_HUMAN;.	M	296	ENSP00000253799:L296M;ENSP00000406134:L296M	ENSP00000253799:L296M	L	+	1	2	AOC2	38251055	0.088000	0.21588	0.062000	0.19696	0.464000	0.32679	0.611000	0.24268	0.603000	0.29913	0.561000	0.74099	CTG		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		6	105	6	105	---	---	---	---	A	40997529	C	A	40997529	3	1	128	1	0	0	0	0	1	0	0	0	727	680	24	1	888	1	AOC2	17	40997529	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	722421	40997529	40197681	194	5832										
TMEM92	162461	broad.mit.edu	37	chr17	48356601	48356601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caactcccacagagccacccCctccctacagcttcaggcct	5	21	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.chr17:48356601C>A	ENST00000300433.3	+	6	522	c.412C>A	c.(412-414)Cct>Act	p.P138T	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	138	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGAGCCACCCCCTCCCTACAG	0.592																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(412-414)Cct>Act		transmembrane protein 92							128	144	139					17																	48356601		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356601C>A		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.412C>A	17.37:g.48356601C>A	ENSP00000300433:p.Pro138Thr		Somatic				TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T	p.P138T	NM_001168215.1	NP_001161687.1	WXS	Illumina GAIIx	Phase_I	Q6UXU6	TMM92_HUMAN			6	522	+			138			Pro-rich.		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.412C>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959391	0.74016	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.18960	2.18;2.18	4.53	4.53	0.55603	.	0.000000	0.45867	D	0.000327	T	0.45256	0.1333	M	0.74258	2.255	0.36817	D	0.886204	D	0.89917	1.0	D	0.91635	0.999	T	0.55354	-0.8154	10	0.66056	D	0.02	-12.1923	12.6372	0.56689	0.0:1.0:0.0:0.0	.	138	Q6UXU6	TMM92_HUMAN	T	138	ENSP00000300433:P138T;ENSP00000425144:P138T	ENSP00000300433:P138T	P	+	1	0	TMEM92	45711600	0.993000	0.37304	0.999000	0.59377	0.968000	0.65278	3.289000	0.51747	2.351000	0.79841	0.462000	0.41574	CCT		0.592	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		8	237	8	237	---	---	---	---	A	48356601	C	A	48356601	3	1	128	1	0	0	0	0	1	0	0	0	16218	623	22	1	430	1	TMEM92	17	48356601	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7359072	48356601	32838609	195	5833										
VEZF1	7716	broad.mit.edu	37	chr17	56060629	56060629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaatgtttctggtgcaccCtgaggtttctgagttattgg	11	6	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.chr17:56060629C>A	ENST00000581208.1	-	2	199	c.159G>T	c.(157-159)caG>caT	p.Q53H	VEZF1_ENST00000584396.1_Missense_Mutation_p.Q44H	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	53					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						CTGGTGCACCCTGAGGTTTCT	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(130-132)caG>caT		vascular endothelial zinc finger 1							122	126	125					17																	56060629		2203	4300	6503	SO:0001583	missense	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.chr17:56060629C>A	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.159G>T	17.37:g.56060629C>A	ENSP00000462337:p.Gln53His		Somatic				VEZF1_ENST00000581208.1_Missense_Mutation_p.Q53H	p.Q44H			WXS	Illumina GAIIx	Phase_I	Q14119	VEZF1_HUMAN			2	220	-			53						Missense_Mutation	SNP	ENST00000581208.1	37	c.132G>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263484	0.23136	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.83	3.75	0.43078	.	0.098347	0.64402	N	0.000001	T	0.30417	0.0764	N	0.14661	0.345	0.40698	D	0.982452	B	0.17852	0.024	B	0.10450	0.005	T	0.06935	-1.0799	9	0.16420	T	0.52	-5.9549	8.1938	0.31385	0.1273:0.7306:0.0:0.1421	.	53	Q14119	VEZF1_HUMAN	H	53	.	ENSP00000258963:Q53H	Q	-	3	2	VEZF1	53415628	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.491000	0.22419	0.728000	0.32382	0.643000	0.83706	CAG		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	183	8	183	---	---	---	---	A	56060629	C	A	56060629	3	1	128	1	0	0	0	0	1	0	0	0	17152	680	24	1	1426	1	VEZF1	17	56060629	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7704028	56060629	25134581	196	5834										
ABCA9	10350	broad.mit.edu	37	chr17	66972095	66972095	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagtttccacttcaccgaGggatcaaagtcctcttcaag	9	11	4	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.chr17:66972095G>T	ENST00000340001.4	-	39	5047	c.4836C>A	c.(4834-4836)ccC>ccA	p.P1612P	ABCA9_ENST00000453985.2_Silent_p.P1574P|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1612					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)					ACTTCACCGAGGGATCAAAGT	0.413																																						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.(4834-4836)ccC>ccA		ATP-binding cassette, sub-family A (ABC1), member 9							57	55	56					17																	66972095		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66972095G>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.4836C>A	17.37:g.66972095G>T			Somatic				ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.P1574P	p.P1612P	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	Q8IUA7	ABCA9_HUMAN			39	5047	-	Breast(10;1.47e-12)		1612					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4836C>A	CCDS11681.1																																																																																				0.413	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	41	5	41	---	---	---	---	T	66972095	G	T	66972095	2	4	128	1	0	0	0	0	0	0	0	1	39	987	35	1		1	ABCA9	17	66972095	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	10911466	66972095	14223115	197	5835										
ACOX1	51	broad.mit.edu	37	chr17	73975129	73975129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgaagctggcggaatccCgctccctgcgcaggtccggg	16	13	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.chr17:73975129C>A	ENST00000301608.4	-	1	86	c.26G>T	c.(25-27)cGg>cTg	p.R9L	TEN1_ENST00000416485.1_5'Flank|TEN1_ENST00000588202.1_5'Flank|ACOX1_ENST00000537812.1_5'UTR|TEN1-CDK3_ENST00000567351.1_RNA|ACOX1_ENST00000591857.1_5'UTR|TEN1_ENST00000397640.1_5'Flank|ACOX1_ENST00000293217.5_Missense_Mutation_p.R9L	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	9					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.R9L(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGCGGAATCCCGCTCCCTGCG	0.662																																						ENST00000293217.5																			2	Substitution - Missense(2)	p.R9L(2)	lung(2)	large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(25-27)cGg>cTg		acyl-CoA oxidase 1, palmitoyl							50	53	52					17																	73975129		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73975129C>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.26G>T	17.37:g.73975129C>A	ENSP00000301608:p.Arg9Leu		Somatic				ACOX1_ENST00000537812.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R9L|ACOX1_ENST00000591857.1_5'UTR	p.R9L	NM_004035.6	NP_004026.2	WXS	Illumina GAIIx	Phase_I	Q15067	ACOX1_HUMAN			1	315	-			9					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.26G>T	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278465	0.95459	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000539791	T;T	0.62364	0.03;0.03	4.74	3.77	0.43336	Acyl-CoA dehydrogenase/oxidase (1);	0.061486	0.64402	D	0.000004	D	0.82815	0.5119	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69307	0.922;0.963	D	0.87162	0.2215	10	0.87932	D	0	-19.7963	12.7417	0.57257	0.0:0.9203:0.0:0.0797	.	9;9	Q15067;Q15067-2	ACOX1_HUMAN;.	L	9	ENSP00000301608:R9L;ENSP00000293217:R9L	ENSP00000293217:R9L	R	-	2	0	ACOX1	71486724	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.381000	0.73163	1.212000	0.43366	0.643000	0.83706	CGG		0.662	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			4	85	4	85	---	---	---	---	A	73975129	C	A	73975129	3	1	128	1	0	0	0	0	1	0	0	0	158	652	23	1	2177	1	ACOX1	17	73975129	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	7003034	73975129	7220081	198	5836										
GATA6	2627	broad.mit.edu	37	chr18	19780663	19780663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgggagagagcaccaatccCgagaacagcgagctcaagta	13	11	1	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.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					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)			GCACCAATCCCGAGAACAGCG	0.607																																					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.(1663-1665)ccC>ccA		GATA binding protein 6							99	89	93					18																	19780663		2203	4300	6503	SO:0001819	synonymous_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.chr18:19780663C>A	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.1665C>A	18.37:g.19780663C>A			Somatic				GATA6_ENST00000581694.1_Silent_p.P555P|RP11-627G18.1_ENST00000583442.1_RNA	p.P555P	NM_005257.4	NP_005248.2	WXS	Illumina GAIIx	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1942	+	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)		555					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1665C>A	CCDS11872.1																																																																																				0.607	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		5	132	5	132	---	---	---	---	A	19780663	C	A	19780663	2	1	128	1	0	0	0	0	0	0	0	1	6258	639	23	1		1	GATA6	18	19780663	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08		19780663	58296585	199	5837										
DSG2	1829	broad.mit.edu	37	chr18	29126129	29126129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctacacctcttcctgaccCaatggcttctagaaatgtga	7	12	2	3	rs146402368	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.chr18:29126129C>A	ENST00000261590.8	+	15	2989	c.2780C>A	c.(2779-2781)cCa>cAa	p.P927Q	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	927					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)			CTTCCTGACCCAATGGCTTCT	0.483																																						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.(2779-2781)cCa>cAa		desmoglein 2							91	89	90					18																	29126129		1949	4147	6096	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126129C>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.2780C>A	18.37:g.29126129C>A	ENSP00000261590:p.Pro927Gln		Somatic				RP11-75N4.2_ENST00000583706.1_RNA	p.P927Q	NM_001943.3	NP_001934.2	WXS	Illumina GAIIx	Phase_I	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2989	+			927					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2780C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550592	0.45383	.	.	ENSG00000046604	ENST00000261590	T	0.76060	-0.99	4.34	4.34	0.51931	.	0.122289	0.36703	N	0.002448	D	0.84261	0.5433	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	D	0.86392	0.1736	10	0.87932	D	0	.	17.757	0.88452	0.0:1.0:0.0:0.0	.	927	Q14126	DSG2_HUMAN	Q	927	ENSP00000261590:P927Q	ENSP00000261590:P927Q	P	+	2	0	DSG2	27380127	0.043000	0.20138	0.021000	0.16686	0.249000	0.25844	3.488000	0.53229	2.691000	0.91804	0.655000	0.94253	CCA		0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	159	6	159	---	---	---	---	A	29126129	C	A	29126129	3	1	128	1	0	0	0	0	1	0	0	0	4777	594	21	1	2838	1	DSG2	18	29126129	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	9345466	29126129	48951119	200	5838										
C18orf25	147339	broad.mit.edu	37	chr18	43820011	43820011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattatgatatgtctgacacCaactctgacccagaagtggt	8	10	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.chr18:43820011C>A	ENST00000282059.6	+	3	1130	c.756C>A	c.(754-756)acC>acA	p.T252T	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	252										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTCTGACACCAACTCTGACC	0.443																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(754-756)acC>acA		chromosome 18 open reading frame 25							142	133	136					18																	43820011		1906	4121	6027	SO:0001819	synonymous_variant	147339							g.chr18:43820011C>A	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.756C>A	18.37:g.43820011C>A			Somatic				C18orf25_ENST00000321319.6_Intron	p.T252T	NM_145055.3	NP_659492	WXS	Illumina GAIIx	Phase_I	Q96B23	CR025_HUMAN			3	1130	+			252					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.756C>A	CCDS42430.1																																																																																				0.443	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		6	138	6	138	---	---	---	---	A	43820011	C	A	43820011	2	1	128	1	0	0	0	0	0	0	0	1	1899	581	21	1		1	C18orf25	18	43820011	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	14693882	43820011	34257237	201	5839										
ZCCHC2	54877	broad.mit.edu	37	chr18	60241887	60241887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccataacccaggtagtttccCaggctctcctgttgctacca	7	15	1	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.chr18:60241887C>A	ENST00000269499.5	+	13	2991	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	858						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						GGTAGTTTCCCAGGCTCTCCT	0.502																																						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.(2572-2574)cCa>cAa		zinc finger, CCHC domain containing 2							135	134	135					18																	60241887		2014	4183	6197	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241887C>A	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.2573C>A	18.37:g.60241887C>A	ENSP00000269499:p.Pro858Gln		Somatic				ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q	p.P858Q	NM_017742.4	NP_060212.4	WXS	Illumina GAIIx	Phase_I	Q9C0B9	ZCHC2_HUMAN			13	2991	+			858					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2573C>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768321	0.69878	.	.	ENSG00000141664	ENST00000269499	T	0.24538	1.85	5.39	5.39	0.77823	.	0.218496	0.39759	N	0.001264	T	0.39655	0.1086	L	0.27053	0.805	0.46011	D	0.998819	D	0.89917	1.0	D	0.69307	0.963	T	0.13045	-1.0524	10	0.45353	T	0.12	-12.9483	19.511	0.95141	0.0:1.0:0.0:0.0	.	858	Q9C0B9	ZCHC2_HUMAN	Q	858	ENSP00000269499:P858Q	ENSP00000269499:P858Q	P	+	2	0	ZCCHC2	58392867	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.649000	0.54417	2.675000	0.91044	0.655000	0.94253	CCA		0.502	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		5	90	5	90	---	---	---	---	A	60241887	C	A	60241887	3	1	128	1	0	0	0	0	1	0	0	0	17584	594	21	1	2623	1	ZCCHC2	18	60241887	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	16421876	60241887	17835361	202	5840										
DUS3L	56931	broad.mit.edu	37	chr19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccggcaagtcttctcctgcCctttggcttccaggaattgg	10	14	2	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.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V	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		Somatic				DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V	p.G49V	NM_020175.2	NP_064560.2	WXS	Illumina GAIIx	Phase_I	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	11	64	---	---	---	---	A	5790299	C	A	5790299	3	1	128	1	0	0	0	0	1	0	0	0	4807	623	22	1	1854	1	DUS3L	19	5790299	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		5790299	53338684	203	5841										
MUC16	94025	broad.mit.edu	37	chr19	9082881	9082881	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtcccctgttcctgaagtGgggactctgggttcatgccc	14	12	2	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.chr19:9082881G>T	ENST00000397910.4	-	1	9137	c.8934C>A	c.(8932-8934)ccC>ccA	p.P2978P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2979	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						TTCCTGAAGTGGGGACTCTGG	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.(8932-8934)ccC>ccA		mucin 16, cell surface associated							107	109	108					19																	9082881		2057	4227	6284	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082881G>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.8934C>A	19.37:g.9082881G>T			Somatic					p.P2978P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	9137	-			2979			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8934C>A	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	157	6	157	---	---	---	---	T	9082881	G	T	9082881	2	4	128	1	0	0	0	0	0	0	0	1	9973	1335	47	1		1	MUC16	19	9082881	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	3292582	9082881	50046102	204	5842										
OR7D4	125958	broad.mit.edu	37	chr19	9324896	9324896	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagctacaggaaacacaccCagcagtgccgtggccacata	9	15	0	0	rs150001713		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.chr19:9324896C>A	ENST00000308682.2	-	1	646	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	206						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						GAAACACACCCAGCAGTGCCG	0.507																																						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.(616-618)ctG>ctT		olfactory receptor, family 7, subfamily D, member 4							96	90	92					19																	9324896		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324896C>A		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.618G>T	19.37:g.9324896C>A			Somatic					p.L206L	NM_001005191.2	NP_001005191.1	WXS	Illumina GAIIx	Phase_I	Q8NG98	OR7D4_HUMAN			1	646	-			206					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.618G>T	CCDS32901.1																																																																																				0.507	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			6	117	6	117	---	---	---	---	A	9324896	C	A	9324896	2	1	128	1	0	0	0	0	0	0	0	1	11220	581	21	1		1	OR7D4	19	9324896	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	242015	9324896	49804087	205	5843										
ICAM5	7087	broad.mit.edu	37	chr19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaactcggggccgtcatcgAggggctgttgcgtgtggccc	17	11	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		Somatic					p.E537A	NM_003259.3	NP_003250.3	WXS	Illumina GAIIx	Phase_I	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	21	93	---	---	---	---	C	10404518	A	C	10404518	3	2	128	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	1079622	10404518	48724465	206	5844										
ZNF440	126070	broad.mit.edu	37	chr19	11942943	11942943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctatgaatgtaagcagtgtGggaaagcattatcctctctt	9	7	2	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.chr19:11942943G>T	ENST00000304060.5	+	4	1116	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	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)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCAGTGTGGGAAAGCATT	0.383																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(952-954)Ggg>Tgg		zinc finger protein 440							86	87	86					19																	11942943		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942943G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.952G>T	19.37:g.11942943G>T	ENSP00000305373:p.Gly318Trp		Somatic					p.G318W	NM_152357.2	NP_689570.2	WXS	Illumina GAIIx	Phase_I	Q8IYI8	ZN440_HUMAN			4	1116	+			318					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.952G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.980424	0.34942	.	.	ENSG00000171295	ENST00000304060	T	0.22336	1.96	1.04	-0.0986	0.13627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50222	0.1603	M	0.93808	3.46	0.30831	N	0.736701	D	0.89917	1.0	D	0.97110	1.0	T	0.51426	-0.8707	9	0.87932	D	0	.	6.6645	0.23032	0.1833:0.0:0.8167:0.0	.	318	Q8IYI8	ZN440_HUMAN	W	318	ENSP00000305373:G318W	ENSP00000305373:G318W	G	+	1	0	ZNF440	11803943	0.979000	0.34478	0.005000	0.12908	0.024000	0.10985	1.226000	0.32563	0.013000	0.14918	0.205000	0.17691	GGG		0.383	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		5	75	5	75	---	---	---	---	T	11942943	G	T	11942943	3	4	128	1	0	0	0	0	1	0	0	0	17910	1348	47	1	966	1	ZNF440	19	11942943	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1538425	11942943	47186040	207	5845										
ZNF442	79973	broad.mit.edu	37	chr19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taccacattctttacattcaTagggtttctcaccagtatga	5	10	3	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.chr19:12461101T>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		Somatic				ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	p.Y433C	NM_030824.2	NP_110451.1	WXS	Illumina GAIIx	Phase_I	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	4	87	---	---	---	---	C	12461101	T	C	12461101	3	2	128	1	0	0	0	0	1	0	0	0	17912	1406	49	2	589	2	ZNF442	19	12461101	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	518158	12461101	46667882	208	5846										
CACNA1A	773	broad.mit.edu	37	chr19	13414690	13414690	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcgttccagtcttcgccCgtcaggatctgaaaggggag	12	12	3	1	rs376641545		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.chr19:13414690C>A	ENST00000360228.5	-	16	1994	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CACNA1A_ENST00000573710.2_Silent_p.T666T	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	666					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.T666T(3)		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)	AGTCTTCGCCCGTCAGGATCT	0.597																																						ENST00000360228.5																			3	Substitution - coding silent(3)	p.T666T(3)	kidney(3)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1993-1995)acG>acT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						125	127	126					19																	13414690		2009	4165	6174	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.chr19:13414690C>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.1995G>T	19.37:g.13414690C>A			Somatic				CACNA1A_ENST00000573710.2_Silent_p.T666T	p.T665T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	WXS	Illumina GAIIx	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	1994	-			666					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.1995G>T	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		6	154	6	154	---	---	---	---	A	13414690	C	A	13414690	2	1	128	1	0	0	0	0	0	0	0	1	2538	639	23	1		1	CACNA1A	19	13414690	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	953589	13414690	45714293	209	5847										
IL27RA	9466	broad.mit.edu	37	chr19	14157009	14157009	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagctacaaagtctggttctGggttggaggtcgtgagctga	16	6	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.chr19:14157009G>T	ENST00000263379.2	+	7	937	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	271					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						GTCTGGTTCTGGGTTGGAGGT	0.552																																					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.(811-813)tGg>tTg		interleukin 27 receptor, alpha							151	151	151					19																	14157009		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157009G>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.812G>T	19.37:g.14157009G>T	ENSP00000263379:p.Trp271Leu		Somatic					p.W271L	NM_004843.3	NP_004834.1	WXS	Illumina GAIIx	Phase_I	Q6UWB1	I27RA_HUMAN			7	937	+			271					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.812G>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514252	0.04200	.	.	ENSG00000104998	ENST00000263379	T	0.60920	0.15	4.52	-2.07	0.07276	.	1.854710	0.03148	N	0.167646	T	0.33147	0.0853	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.18871	0.023	T	0.11251	-1.0595	10	0.23891	T	0.37	-0.8169	4.7645	0.13125	0.4514:0.3709:0.1777:0.0	.	271	Q6UWB1	I27RA_HUMAN	L	271	ENSP00000263379:W271L	ENSP00000263379:W271L	W	+	2	0	IL27RA	14018009	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.447000	0.21710	-0.166000	0.10890	-0.259000	0.10710	TGG		0.552	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		7	273	7	273	---	---	---	---	T	14157009	G	T	14157009	3	4	128	1	0	0	0	0	1	0	0	0	7681	1357	47	1	838	1	IL27RA	19	14157009	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	742319	14157009	44971974	210	5848										
TECR	9524	broad.mit.edu	37	chr19	14674848	14674848	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctacctgctcttctacttcCgagtgcccttcatctatggc	6	15	5	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.chr19:14674848C>A	ENST00000215567.5	+	6	459	c.322C>A	c.(322-324)Cga>Aga	p.R108R	TECR_ENST00000596073.1_5'UTR|TECR_ENST00000436007.2_Silent_p.R123R|TECR_ENST00000600083.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	108					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|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 endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCTACTTCCGAGTGCCCTT	0.557																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(367-369)Cga>Aga		trans-2,3-enoyl-CoA reductase							187	198	194					19																	14674848		2203	4300	6503	SO:0001819	synonymous_variant	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674848C>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.322C>A	19.37:g.14674848C>A			Somatic				TECR_ENST00000215567.5_Silent_p.R108R|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR	p.R123R			WXS	Illumina GAIIx	Phase_I	Q9NZ01	TECR_HUMAN			7	491	+			108					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	c.367C>A	CCDS12313.1																																																																																				0.557	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		6	286	6	286	---	---	---	---	A	14674848	C	A	14674848	2	1	128	1	0	0	0	0	0	0	0	1	15742	644	23	1		1	TECR	19	14674848	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	517839	14674848	44454135	211	5849										
OR10H4	126541	broad.mit.edu	37	chr19	16060285	16060285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggctggtggctcagtcatGgggatgatggtgacaacgat	17	6	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.chr19:16060285G>T	ENST00000322107.1	+	1	468	c.468G>T	c.(466-468)atG>atT	p.M156I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, 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)	p.M156I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522																																						ENST00000322107.1																			1	Substitution - Missense(1)	p.M156I(1)	urinary_tract(1)	breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(466-468)atG>atT		olfactory receptor, family 10, subfamily H, member 4							208	174	185					19																	16060285		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060285G>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.468G>T	19.37:g.16060285G>T	ENSP00000318834:p.Met156Ile		Somatic					p.M156I	NM_001004465.1	NP_001004465.1	WXS	Illumina GAIIx	Phase_I	Q8NGA5	O10H4_HUMAN			1	468	+			156					Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.468G>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	2.877	-0.232724	0.05983	.	.	ENSG00000176231	ENST00000322107	T	0.00044	8.83	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.131231	0.34002	N	0.004353	T	0.00039	0.0001	N	0.01431	-0.87	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.04413	-1.0953	10	0.22109	T	0.4	.	5.7094	0.17927	0.0:0.3455:0.6545:0.0	.	156	Q8NGA5	O10H4_HUMAN	I	156	ENSP00000318834:M156I	ENSP00000318834:M156I	M	+	3	0	OR10H4	15921285	0.000000	0.05858	0.887000	0.34795	0.578000	0.36192	-0.968000	0.03817	0.828000	0.34709	0.471000	0.43371	ATG		0.522	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			6	131	6	131	---	---	---	---	T	16060285	G	T	16060285	3	4	128	1	0	0	0	0	1	0	0	0	10908	1348	47	1	470	1	OR10H4	19	16060285	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1385437	16060285	43068698	212	5850										
ANO8	57719	broad.mit.edu	37	chr19	17441791	17441791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaccacgcaggaaacatccCggcttgtctgtgagtggcag	13	11	1	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.chr19:17441791C>A	ENST00000159087.4	-	8	997	c.839G>T	c.(838-840)cGg>cTg	p.R280L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	280					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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAAACATCCCGGCTTGTCTG	0.572																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(838-840)cGg>cTg		anoctamin 8							153	163	160					19																	17441791		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17441791C>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.839G>T	19.37:g.17441791C>A	ENSP00000159087:p.Arg280Leu		Somatic					p.R280L	NM_020959.2	NP_066010.1	WXS	Illumina GAIIx	Phase_I	Q9HCE9	ANO8_HUMAN			8	997	-			280					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.839G>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	c	18.73	3.686003	0.68157	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	4.59	3.55	0.40652	.	0.066492	0.64402	D	0.000010	T	0.66665	0.2812	L	0.48218	1.51	0.34833	D	0.739928	P	0.48911	0.917	P	0.57324	0.818	T	0.74197	-0.3743	10	0.49607	T	0.09	.	10.4298	0.44400	0.0:0.9013:0.0:0.0987	.	280	Q9HCE9	ANO8_HUMAN	L	280	ENSP00000159087:R280L	ENSP00000159087:R280L	R	-	2	0	ANO8	17302791	0.995000	0.38212	0.995000	0.50966	0.753000	0.42808	3.043000	0.49823	0.925000	0.37094	0.306000	0.20318	CGG		0.572	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		6	173	6	173	---	---	---	---	A	17441791	C	A	17441791	3	1	128	1	0	0	0	0	1	0	0	0	703	652	23	1	2903	1	ANO8	19	17441791	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1381506	17441791	41687192	213	5851										
UPF1	5976	broad.mit.edu	37	chr19	18976574	18976574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcccggcctctcccagcCggagctgtcccaggtgagcc	12	19	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.chr19:18976574C>A	ENST00000599848.1	+	22	3466	c.3257C>A	c.(3256-3258)cCg>cAg	p.P1086Q	UPF1_ENST00000262803.5_Missense_Mutation_p.P1075Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1086	Gln/Ser-rich.				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						CTCTCCCAGCCGGAGCTGTCC	0.647																																						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.(3223-3225)cCg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							37	44	42					19																	18976574		2200	4293	6493	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.chr19:18976574C>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.3257C>A	19.37:g.18976574C>A	ENSP00000470142:p.Pro1086Gln		Somatic				UPF1_ENST00000599848.1_Missense_Mutation_p.P1086Q	p.P1075Q	NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			22	3496	+			1086			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3224C>A		.	.	.	.	.	.	.	.	.	.	c	17.17	3.320359	0.60634	.	.	ENSG00000005007	ENST00000262803	D	0.89875	-2.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	N	0.22421	0.69	0.80722	D	1	P;P	0.49783	0.928;0.898	B;P	0.54706	0.397;0.759	D	0.84076	0.0382	10	0.14656	T	0.56	-22.1667	16.7116	0.85387	0.0:1.0:0.0:0.0	.	1086;1075	Q92900;Q92900-2	RENT1_HUMAN;.	Q	1075	ENSP00000262803:P1075Q	ENSP00000262803:P1075Q	P	+	2	0	UPF1	18837574	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.765000	0.68834	2.285000	0.76669	0.479000	0.44913	CCG		0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		4	86	4	86	---	---	---	---	A	18976574	C	A	18976574	3	1	128	1	0	0	0	0	1	0	0	0	17000	652	23	1	3310	1	UPF1	19	18976574	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	1534783	18976574	40152409	214	5852										
CILP2	148113	broad.mit.edu	37	chr19	19654493	19654493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttttctttgtccccagcccCaggccagccagcctgcgacc	9	18	1	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.chr19:19654493C>A	ENST00000291495.5	+	8	1224	c.1139C>A	c.(1138-1140)cCa>cAa	p.P380Q	CILP2_ENST00000586018.1_Missense_Mutation_p.P386Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	380						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCCCAGCCCCAGGCCAGCCA	0.632																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1156-1158)cCa>cAa		cartilage intermediate layer protein 2							107	132	124					19																	19654493		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654493C>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1139C>A	19.37:g.19654493C>A	ENSP00000291495:p.Pro380Gln		Somatic				CILP2_ENST00000291495.5_Missense_Mutation_p.P380Q	p.P386Q			WXS	Illumina GAIIx	Phase_I	Q8IUL8	CILP2_HUMAN			8	1259	+			380					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1157C>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296329	0.23650	.	.	ENSG00000160161	ENST00000291495	T	0.46063	0.88	4.22	3.09	0.35607	.	0.185678	0.43260	D	0.000582	T	0.32071	0.0817	L	0.48362	1.52	0.31283	N	0.690394	B;B	0.22683	0.073;0.073	B;B	0.19946	0.02;0.027	T	0.25363	-1.0134	10	0.30078	T	0.28	-17.2733	8.4812	0.33043	0.2317:0.7683:0.0:0.0	.	380;380	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	380	ENSP00000291495:P380Q	ENSP00000291495:P380Q	P	+	2	0	CILP2	19515493	0.133000	0.22466	0.873000	0.34254	0.516000	0.34256	1.563000	0.36364	1.900000	0.55004	0.423000	0.28283	CCA		0.632	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		9	347	9	347	---	---	---	---	A	19654493	C	A	19654493	3	1	128	1	0	0	0	0	1	0	0	0	3430	594	21	1	1169	1	CILP2	19	19654493	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	677919	19654493	39474490	215	5853										
ATP4A	495	broad.mit.edu	37	chr19	36046700	36046700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggtgatggggtggtcaccCgttaccatgatcacctgtag	14	10	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.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTGGTCACCCGTTACCATGA	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1882-1884)acG>acT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						155	145	148					19																	36046700		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046700C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1884G>T	19.37:g.36046700C>A			Somatic					p.T628T	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		13	1912	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		628					O00738	Silent	SNP	ENST00000262623.3	37	c.1884G>T	CCDS12467.1																																																																																				0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	216	5	216	---	---	---	---	A	36046700	C	A	36046700	2	1	128	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP4A	19	36046700	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	16392207	36046700	23082283	216	5854										
ARHGAP33	115703	broad.mit.edu	37	chr19	36278629	36278629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaagccaggcttgtacccCctgggccccccatccttcca	7	21	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.chr19:36278629C>A	ENST00000007510.4	+	21	3306	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P	ARHGAP33_ENST00000314737.5_Silent_p.P893P|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Silent_p.P890P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1054					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						GCTTGTACCCCCTGGGCCCCC	0.667																																						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.(3160-3162)ccC>ccA		Rho GTPase activating protein 33							20	25	23					19																	36278629		2193	4287	6480	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278629C>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.3162C>A	19.37:g.36278629C>A			Somatic				ARHGAP33_ENST00000378944.5_Silent_p.P890P|ARHGAP33_ENST00000314737.5_Silent_p.P893P	p.P1054P			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			21	3306	+			1054					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3162C>A																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	57	5	57	---	---	---	---	A	36278629	C	A	36278629	2	1	128	1	0	0	0	0	0	0	0	1	882	610	22	1		1	ARHGAP33	19	36278629	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	231929	36278629	22850354	217	5855										
SPRED3	399473	broad.mit.edu	37	chr19	38882639	38882639	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttacaacaaggtgaatccCatctttcaccactggagcct	7	12	2	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.chr19:38882639C>A	ENST00000338502.4	+	2	334	c.231C>A	c.(229-231)ccC>ccA	p.P77P	SPRED3_ENST00000586301.1_Silent_p.P77P|SPRED3_ENST00000587013.1_Silent_p.P121P|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	77	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTGAATCCCATCTTTCACC	0.547																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(361-363)ccC>ccA		sprouty-related, EVH1 domain containing 3							130	128	128					19																	38882639		2011	4184	6195	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38882639C>A		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.231C>A	19.37:g.38882639C>A			Somatic				SPRED3_ENST00000586301.1_Silent_p.P77P|SPRED3_ENST00000338502.4_Silent_p.P77P|SPRED3_ENST00000587564.2_3'UTR	p.P121P			WXS	Illumina GAIIx	Phase_I	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	441	+	all_cancers(60;3.4e-06)		77			Ser-rich.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.363C>A	CCDS42560.1																																																																																				0.547	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	139	7	139	---	---	---	---	A	38882639	C	A	38882639	2	1	128	1	0	0	0	0	0	0	0	1	15093	581	21	1		1	SPRED3	19	38882639	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2604010	38882639	20246344	218	5856										
HNRNPUL1	11100	broad.mit.edu	37	chr19	41778018	41778018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagatgaagcaaggagcaccCaccagcttcctcccgcctga	10	15	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.chr19:41778018C>A	ENST00000392006.3	+	3	623	c.450C>A	c.(448-450)ccC>ccA	p.P150P	HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000595018.1_Silent_p.P50P|HNRNPUL1_ENST00000593587.1_Silent_p.P50P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	150					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)			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						AAGGAGCACCCACCAGCTTCC	0.507																																						ENST00000392006.3																			0				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.(448-450)ccC>ccA		heterogeneous nuclear ribonucleoprotein U-like 1							116	123	120					19																	41778018		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:41778018C>A	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.450C>A	19.37:g.41778018C>A			Somatic				HNRNPUL1_ENST00000593587.1_Silent_p.P50P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.P50P	p.P150P	NM_007040.3	NP_008971.2	WXS	Illumina GAIIx	Phase_I	Q9BUJ2	HNRL1_HUMAN			3	623	+			150					B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.450C>A	CCDS12576.1																																																																																				0.507	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		7	132	7	132	---	---	---	---	A	41778018	C	A	41778018	2	1	128	1	0	0	0	0	0	0	0	1	7274	581	21	1		1	HNRNPUL1	19	41778018	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	2895379	41778018	17350965	219	5857										
CEACAM3	1084	broad.mit.edu	37	chr19	42314040	42314040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcaaggagcagcagcccCaagcccttgcccctggtgag	11	16	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.chr19:42314040C>A	ENST00000357396.3	+	4	821	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	194						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCAGCAGCCCCAAGCCCTTGC	0.597																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(580-582)Caa>Aaa		carcinoembryonic antigen-related cell adhesion molecule 3							152	171	165					19																	42314040		2202	4299	6501	SO:0001583	missense	1084					integral to membrane		g.chr19:42314040C>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.580C>A	19.37:g.42314040C>A	ENSP00000349971:p.Gln194Lys		Somatic				CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	p.Q194K	NM_001815.2	NP_001806.2	WXS	Illumina GAIIx	Phase_I	P40198	CEAM3_HUMAN			4	821	+			194					G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.580C>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	C	5.535	0.283690	0.10458	.	.	ENSG00000170956	ENST00000357396	T	0.01113	5.32	2.0	2.0	0.26442	.	.	.	.	.	T	0.00936	0.0031	N	0.19112	0.55	0.20074	N	0.999934	B	0.31931	0.347	B	0.28305	0.088	T	0.50634	-0.8805	9	0.35671	T	0.21	.	7.5028	0.27528	0.0:1.0:0.0:0.0	.	194	P40198	CEAM3_HUMAN	K	194	ENSP00000349971:Q194K	ENSP00000349971:Q194K	Q	+	1	0	CEACAM3	47005880	0.000000	0.05858	0.014000	0.15608	0.374000	0.29953	0.260000	0.18424	1.440000	0.47531	0.407000	0.27541	CAA		0.597	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		8	253	8	253	---	---	---	---	A	42314040	C	A	42314040	3	1	128	1	0	0	0	0	1	0	0	0	3193	595	21	1	594	1	CEACAM3	19	42314040	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	536022	42314040	16814943	220	5858										
MEGF8	1954	broad.mit.edu	37	chr19	42858806	42858806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggtgttgtccagtcggacCgcagcctcatagctgccttc	11	14	1	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.chr19:42858806C>A	ENST00000251268.6	+	23	4078	c.4078C>A	c.(4078-4080)Cgc>Agc	p.R1360S	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1293S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1360	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				CCAGTCGGACCGCAGCCTCAT	0.602																																						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.(3877-3879)Cgc>Agc		multiple EGF-like-domains 8							202	190	194					19																	42858806		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42858806C>A	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.4078C>A	19.37:g.42858806C>A	ENSP00000251268:p.Arg1360Ser		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.R1360S	p.R1293S	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			22	4512	+		Prostate(69;0.00682)	1360			CUB 2.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3877C>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137603	0.77775	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23754	1.89;1.89	4.29	3.25	0.37280	CUB (1);	0.077070	0.52532	D	0.000078	T	0.28267	0.0698	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.966;0.99	P;P	0.58454	0.677;0.839	T	0.02275	-1.1184	10	0.14252	T	0.57	-18.7145	11.1235	0.48304	0.0:0.9079:0.0:0.0921	.	1360;1293	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1293;1360	ENSP00000334219:R1293S;ENSP00000251268:R1360S	ENSP00000251268:R1360S	R	+	1	0	MEGF8	47550646	1.000000	0.71417	0.968000	0.41197	0.901000	0.52897	3.503000	0.53340	1.030000	0.39839	0.563000	0.77884	CGC		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	288	8	288	---	---	---	---	A	42858806	C	A	42858806	3	1	128	1	0	0	0	0	1	0	0	0	9463	652	23	1	3963	1	MEGF8	19	42858806	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	544766	42858806	16270177	221	5859										
CA11	770	broad.mit.edu	37	chr19	49143086	49143086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccaggccattggggccgcGggaggcagcgctgaaattcc	17	12	0	1	rs541610646		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.chr19:49143086G>T	ENST00000084798.4	-	5	1205	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	176						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)	TTGGGGCCGCGGGAGGCAGCG	0.622																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(526-528)Cgc>Agc		carbonic anhydrase XI							61	67	65					19																	49143086		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143086G>T	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.526C>A	19.37:g.49143086G>T	ENSP00000084798:p.Arg176Ser		Somatic				SEC1P_ENST00000430145.2_RNA	p.R176S	NM_001217.3	NP_001208.2	WXS	Illumina GAIIx	Phase_I	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)	5	1205	-		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)	176					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.526C>A	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535812	0.27475	.	.	ENSG00000063180	ENST00000084798	T	0.64991	-0.13	3.73	-2.98	0.05513	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.066013	0.56097	D	0.000029	T	0.41282	0.1152	N	0.11756	0.17	0.09310	N	0.999997	P	0.38048	0.616	B	0.43783	0.431	T	0.48927	-0.8991	10	0.16420	T	0.52	.	11.2624	0.49091	0.0:0.0:0.2703:0.7297	.	176	O75493	CAH11_HUMAN	S	176	ENSP00000084798:R176S	ENSP00000084798:R176S	R	-	1	0	CA11	53834898	0.964000	0.33143	0.043000	0.18650	0.371000	0.29859	0.328000	0.19681	-0.290000	0.09025	0.462000	0.41574	CGC		0.622	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		5	95	5	95	---	---	---	---	T	49143086	G	T	49143086	3	4	128	1	0	0	0	0	1	0	0	0	2512	1116	39	1	480	1	CA11	19	49143086	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	6284280	49143086	9985897	222	5860										
PPP1R15A	23645	broad.mit.edu	37	chr19	49379177	49379177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagctgtggccacaccttccCgctcgtctgctgctgcagcg	11	16	1	0	rs386810065|rs35007147	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.chr19:49379177C>A	ENST00000200453.5	+	3	2241	c.1972C>A	c.(1972-1974)Cgc>Agc	p.R658S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	658					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)		CACACCTTCCCGCTCGTCTGC	0.572																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1972-1974)Cgc>Agc		protein phosphatase 1, regulatory subunit 15A							76	77	77					19																	49379177		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379177C>A	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.1972C>A	19.37:g.49379177C>A	ENSP00000200453:p.Arg658Ser		Somatic					p.R658S	NM_014330.3	NP_055145.3	WXS	Illumina GAIIx	Phase_I	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)	3	2241	+		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)	658					B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1972C>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215715	0.22373	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05025	3.51	4.23	-2.92	0.05615	.	1.484980	0.04312	N	0.349124	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37686	-0.9695	10	0.06891	T	0.86	0.1651	1.0078	0.01491	0.1531:0.3328:0.1494:0.3647	.	658	O75807	PR15A_HUMAN	S	658;498;616	ENSP00000200453:R658S	ENSP00000200453:R658S	R	+	1	0	PPP1R15A	54070989	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.135000	0.03225	-0.387000	0.07809	-0.888000	0.02935	CGC		0.572	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		5	99	5	99	---	---	---	---	A	49379177	C	A	49379177	3	1	128	1	0	0	0	0	1	0	0	0	12363	652	23	1	1978	1	PPP1R15A	19	49379177	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	236091	49379177	9749806	223	5861										
NCR1	9437	broad.mit.edu	37	chr19	55423580	55423580	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaccacagagacgggactcCagaaaggtaagtagacagct	11	9	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.chr19:55423580C>A	ENST00000291890.4	+	6	765	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000594765.1_Missense_Mutation_p.Q242K|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K|NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000338835.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	243					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GACGGGACTCCAGAAAGGTAA	0.517																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(724-726)Cag>Aag		natural cytotoxicity triggering receptor 1							121	112	115					19																	55423580		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423580C>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.727C>A	19.37:g.55423580C>A	ENSP00000291890:p.Gln243Lys		Somatic				NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000291890.4_Missense_Mutation_p.Q243K	p.Q242K			WXS	Illumina GAIIx	Phase_I	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	749	+			243					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.724C>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191080	0.21954	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00534	7.04;7.06;7.0;6.74	2.54	2.54	0.30619	.	41.813300	0.00166	N	0.000001	T	0.00845	0.0028	L	0.53729	1.69	0.09310	N	1	P;P;P;P	0.52316	0.952;0.92;0.908;0.851	P;B;B;B	0.45610	0.487;0.292;0.337;0.182	T	0.53655	-0.8408	10	0.15499	T	0.54	.	8.7866	0.34825	0.0:1.0:0.0:0.0	.	136;148;242;243	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	K	243;242;148;136	ENSP00000291890:Q243K;ENSP00000404434:Q242K;ENSP00000344358:Q148K;ENSP00000349972:Q136K	ENSP00000291890:Q243K	Q	+	1	0	NCR1	60115392	0.001000	0.12720	0.003000	0.11579	0.061000	0.15899	0.848000	0.27710	1.755000	0.51935	0.650000	0.86243	CAG		0.517	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			5	101	5	101	---	---	---	---	A	55423580	C	A	55423580	3	1	128	1	0	0	0	0	1	0	0	0	10237	595	21	1	749	1	NCR1	19	55423580	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	6044403	55423580	3705403	224	5862										
ZNF835	90485	broad.mit.edu	37	chr19	57174975	57174975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcttctgctggtccacgcGggtttctgccagggcacccc	11	15	3	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.chr19:57174975G>T	ENST00000537055.2	-	2	1823	c.1592C>A	c.(1591-1593)cCg>cAg	p.P531Q		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	531					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						TGGTCCACGCGGGTTTCTGCC	0.577																																						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.(1591-1593)cCg>cAg		zinc finger protein 835							52	55	54					19																	57174975		2075	4224	6299	SO:0001583	missense	90485							g.chr19:57174975G>T	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.1592C>A	19.37:g.57174975G>T	ENSP00000444747:p.Pro531Gln		Somatic					p.P531Q	NM_001005850.2	NP_001005850.2	WXS	Illumina GAIIx	Phase_I					2	1823	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1592C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023505	0.19433	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	1.83	-3.66	0.04489	.	.	.	.	.	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.55161	0.77	T	0.18777	-1.0326	9	0.52906	T	0.07	.	2.0813	0.03635	0.5443:0.1851:0.1448:0.1258	.	553	Q9Y2P0	ZN835_HUMAN	Q	553;531	ENSP00000444747:P531Q	ENSP00000341756:P553Q	P	-	2	0	ZNF835	61866787	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.636000	0.02016	-3.459000	0.00159	-0.369000	0.07265	CCG		0.577	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	79	4	79	---	---	---	---	T	57174975	G	T	57174975	3	4	128	1	0	0	0	0	1	0	0	0	18183	1116	39	1	23	1	ZNF835	19	57174975	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	1751395	57174975	1954008	225	5863										
MCM8	84515	broad.mit.edu	37	chr20	5965430	5965430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttcatccttcatagaatGgggagtgcactactatccag	8	10	3	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.chr20:5965430G>T	ENST00000378896.3	+	15	2114	c.1737G>T	c.(1735-1737)atG>atT	p.M579I	MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I|MCM8_ENST00000378883.1_Missense_Mutation_p.M532I	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	579	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						TTCATAGAATGGGGAGTGCAC	0.358																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1735-1737)atG>atT		minichromosome maintenance complex component 8							138	127	131					20																	5965430		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.chr20:5965430G>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.1737G>T	20.37:g.5965430G>T	ENSP00000368174:p.Met579Ile		Somatic				MCM8_ENST00000378883.1_Missense_Mutation_p.M532I|MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I	p.M579I	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	WXS	Illumina GAIIx	Phase_I	Q9UJA3	MCM8_HUMAN			15	2114	+			579			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1737G>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150611	0.57151	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.87	4.88	0.63580	ATPase, AAA+ type, core (1);	0.035312	0.85682	D	0.000000	T	0.10078	0.0247	L	0.37507	1.11	0.80722	D	1	B;B;B;B	0.16603	0.018;0.008;0.001;0.013	B;B;B;B	0.24269	0.03;0.042;0.018;0.052	T	0.09684	-1.0663	10	0.56958	D	0.05	-22.4552	17.0006	0.86380	0.0:0.0:0.8724:0.1276	.	532;619;563;579	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	I	579;532;619;563	ENSP00000368174:M579I;ENSP00000368161:M532I;ENSP00000368164:M619I;ENSP00000265187:M563I	ENSP00000265187:M563I	M	+	3	0	MCM8	5913430	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.160000	0.77495	2.941000	0.99782	0.655000	0.94253	ATG		0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		5	72	5	72	---	---	---	---	T	5965430	G	T	5965430	3	4	128	1	0	0	0	0	1	0	0	0	9393	1348	47	1	1791	1	MCM8	20	5965430	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		5965430	57060090	226	5864										
L3MBTL	26013	broad.mit.edu	37	chr20	42162929	42162929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcccctctgcagcgaccCcctcacagcttcctggtcaa	7	19	3	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.chr20:42162929C>A	ENST00000427442.2	+	15	1698	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000444063.1_Silent_p.P445P|L3MBTL1_ENST00000373134.1_Silent_p.P445P|L3MBTL1_ENST00000418998.1_Silent_p.P513P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	445					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						TGCAGCGACCCCCTCACAGCT	0.637																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1333-1335)ccC>ccA		l(3)mbt-like 1 (Drosophila)							33	35	34					20																	42162929		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.chr20:42162929C>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.1539C>A	20.37:g.42162929C>A			Somatic				L3MBTL1_ENST00000427442.2_Silent_p.P513P|L3MBTL1_ENST00000373134.1_Silent_p.P445P|L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000418998.1_Silent_p.P513P	p.P445P			WXS	Illumina GAIIx	Phase_I	Q9Y468	LMBL1_HUMAN			12	1467	+			445					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1335C>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053379	0.19907	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.39	-2.09	0.07232	.	0.163234	0.53938	D	0.000042	T	0.45518	0.1346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43798	-0.9369	6	0.72032	D	0.01	.	0.0603	0.00015	0.3162:0.1971:0.2223:0.2643	.	.	.	.	H	136	.	ENSP00000412938:P136H	P	+	2	0	L3MBTL1	41596343	0.000000	0.05858	0.993000	0.49108	0.961000	0.63080	-1.856000	0.01662	-0.128000	0.11641	-0.150000	0.13652	CCC		0.637	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	53	5	53	---	---	---	---	A	42162929	C	A	42162929	2	1	128	1	0	0	0	0	0	0	0	1	8591	610	22	1		1	L3MBTL	20	42162929	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	36197499	42162929	20862591	227	5865										
TAF4	6874	broad.mit.edu	37	chr20	60575644	60575644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctgcaaaggcgcttggaGgaggaaggtttcatctttac	12	8	3	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.chr20:60575644G>T	ENST00000252996.4	-	10	2619	c.2620C>A	c.(2620-2622)Ctc>Atc	p.L874I		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	874					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCGCTTGGAGGAGGAAGGTT	0.463																																						ENST00000252996.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2620-2622)Ctc>Atc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							143	135	138					20																	60575644		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|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|transcription coactivator activity	g.chr20:60575644G>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2620C>A	20.37:g.60575644G>T	ENSP00000252996:p.Leu874Ile		Somatic					p.L874I	NM_003185.3	NP_003176.2	WXS	Illumina GAIIx	Phase_I	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		10	2619	-	Breast(26;1e-08)							A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2620C>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288654	0.40494	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25414	1.81;1.8	5.16	4.21	0.49690	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.195679	0.44285	D	0.000473	T	0.22936	0.0554	L	0.43152	1.355	0.36308	D	0.857448	P	0.39352	0.669	B	0.41374	0.355	T	0.16541	-1.0399	10	0.21014	T	0.42	-6.5309	10.6951	0.45894	0.1679:0.0:0.8321:0.0	.	874	O00268	TAF4_HUMAN	I	874;738	ENSP00000252996:L874I;ENSP00000399091:L738I	ENSP00000252996:L874I	L	-	1	0	TAF4	60009039	1.000000	0.71417	0.991000	0.47740	0.799000	0.45148	3.482000	0.53186	1.166000	0.42689	0.561000	0.74099	CTC		0.463	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	85	5	85	---	---	---	---	T	60575644	G	T	60575644	3	4	128	1	0	0	0	0	1	0	0	0	15523	1000	35	1	661	1	TAF4	20	60575644	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	18412715	60575644	2449876	228	5866										
BACE2	25825	broad.mit.edu	37	chr21	42598245	42598245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgccgtggcaggaacccCgcactcctacatagacacgt	9	15	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.chr21:42598245C>A	ENST00000330333.6	+	2	828	c.365C>A	c.(364-366)cCg>cAg	p.P122Q	BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000347667.5_Missense_Mutation_p.P122Q	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	122					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)				GCAGGAACCCCGCACTCCTAC	0.463																																						ENST00000347667.5																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(364-366)cCg>cAg		beta-site APP-cleaving enzyme 2							107	101	103					21																	42598245		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.chr21:42598245C>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.365C>A	21.37:g.42598245C>A	ENSP00000332979:p.Pro122Gln		Somatic				BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000330333.6_Missense_Mutation_p.P122Q	p.P122Q	NM_138991.1	NP_620476.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z0	BACE2_HUMAN			2	828	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)						A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.365C>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186146	0.38609	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.55760	0.5;0.5;0.5	4.74	4.74	0.60224	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124823	0.56097	D	0.000038	T	0.63070	0.2480	L	0.45285	1.41	0.46725	D	0.999173	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.75484	0.923;0.974;0.986	T	0.59005	-0.7535	10	0.27785	T	0.31	.	14.4389	0.67301	0.0:1.0:0.0:0.0	.	122;122;122	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	Q	122;122;122;27	ENSP00000332979:P122Q;ENSP00000327528:P122Q;ENSP00000333854:P122Q	ENSP00000333854:P122Q	P	+	2	0	BACE2	41520115	0.862000	0.29867	0.181000	0.23098	0.110000	0.19582	2.660000	0.46749	2.181000	0.69327	0.462000	0.41574	CCG		0.463	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			5	93	5	93	---	---	---	---	A	42598245	C	A	42598245	3	1	128	1	0	0	0	0	1	0	0	0	1282	652	23	1	371	1	BACE2	21	42598245	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		42598245	5531650	229	5867										
LIF	3976	broad.mit.edu	37	chr22	30639684	30639684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgatctgcttatacttccCcaggagttgacagcccagct	9	12	1	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.chr22:30639684C>A	ENST00000249075.3	-	3	720	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_3'UTR|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	189					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TTATACTTCCCCAGGAGTTGA	0.567																																						ENST00000249075.3																			0				breast(1)|lung(3)|skin(3)	7						c.(565-567)Ggg>Tgg		leukemia inhibitory factor							139	128	131					22																	30639684		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30639684C>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"differentiation inhibitory activity", "differentiation-inducing factor", "hepatocyte-stimulating factor III", "cholinergic differentiation factor", "human interleukin in DA cells"	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.565G>T	22.37:g.30639684C>A	ENSP00000249075:p.Gly189Trp		Somatic				LIF_ENST00000403987.3_3'UTR	p.G189W	NM_002309.4	NP_002300.1	WXS	Illumina GAIIx	Phase_I	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	720	-			189					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.565G>T	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611444	0.66558	.	.	ENSG00000128342	ENST00000249075	T	0.78707	-1.2	4.99	4.99	0.66335	Leukemia inhibitory factor /oncostatin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.368895	0.26525	N	0.023882	D	0.85292	0.5663	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86036	0.1516	10	0.72032	D	0.01	-2.0736	8.8459	0.35170	0.0:0.8927:0.0:0.1073	.	189	P15018	LIF_HUMAN	W	189	ENSP00000249075:G189W	ENSP00000249075:G189W	G	-	1	0	LIF	28969684	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.486000	0.35530	2.294000	0.77228	0.561000	0.74099	GGG		0.567	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		6	108	6	108	---	---	---	---	A	30639684	C	A	30639684	3	1	128	1	0	0	0	0	1	0	0	0	8779	623	22	1	47	1	LIF	22	30639684	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		30639684	20664882	230	5868										
NAGA	4668	broad.mit.edu	37	chr22	42459019	42459019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagctgagaccaaagttccCaatgagcagctgggggcaga	13	9	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.chr22:42459019C>A	ENST00000396398.3	-	7	1301	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W	NAGA_ENST00000403363.1_Missense_Mutation_p.G257W|NAGA_ENST00000402937.1_Missense_Mutation_p.G257W	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	257					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						CCAAAGTTCCCAATGAGCAGC	0.577																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(769-771)Ggg>Tgg		N-acetylgalactosaminidase, alpha-							42	40	41					22																	42459019		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.chr22:42459019C>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.769G>T	22.37:g.42459019C>A	ENSP00000379680:p.Gly257Trp		Somatic				NAGA_ENST00000403363.1_Missense_Mutation_p.G257W|NAGA_ENST00000402937.1_Missense_Mutation_p.G257W	p.G257W	NM_000262.2	NP_000253.1	WXS	Illumina GAIIx	Phase_I	P17050	NAGAB_HUMAN			7	1301	-			257						Missense_Mutation	SNP	ENST00000396398.3	37	c.769G>T	CCDS14030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.892913|4.892913	0.91889|0.91889	.|.	.|.	ENSG00000198951|ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937|ENST00000481068	D;D;D|.	0.99895|.	-7.59;-7.59;-7.59|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91710|0.91710	0.7379|0.7379	H|H	0.99273|0.99273	4.495|4.495	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.76071|.	0.987|.	D|D	0.94838|0.94838	0.8002|0.8002	10|5	0.87932|.	D|.	0|.	-26.0598|-26.0598	19.7857|19.7857	0.96434|0.96434	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|.	P17050|.	NAGAB_HUMAN|.	W|L	257|134	ENSP00000379680:G257W;ENSP00000385283:G257W;ENSP00000384603:G257W|.	ENSP00000379680:G257W|.	G|W	-|-	1|2	0|0	NAGA|NAGA	40788965|40788965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	7.754000|7.754000	0.85163|0.85163	2.684000|2.684000	0.91462|0.91462	0.556000|0.556000	0.70494|0.70494	GGG|TGG		0.577	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	29	4	29	---	---	---	---	A	42459019	C	A	42459019	3	1	128	1	0	0	0	0	1	0	0	0	10141	594	21	1	478	1	NAGA	22	42459019	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	11819335	42459019	8845547	231	5869										
RIBC2	26150	broad.mit.edu	37	chr22	45813805	45813805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagggaatggaagaacgccCgtgctgaacaaaaatgcgca	12	8	0	2	rs137932273		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.chr22:45813805C>A	ENST00000342894.3	+	3	730	c.316C>A	c.(316-318)Cgt>Agt	p.R106S	RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	106						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(316-318)Cgt>Agt		RIB43A domain with coiled-coils 2							33	34	34					22																	45813805		2203	4296	6499	SO:0001583	missense	26150							g.chr22:45813805C>A	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.316C>A	22.37:g.45813805C>A	ENSP00000342529:p.Arg106Ser		Somatic				RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S	p.R106S			WXS	Illumina GAIIx	Phase_I	Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	730	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.316C>A		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370934	0.24771	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.22743	1.94;1.94	4.6	3.58	0.41010	.	0.463445	0.18560	N	0.137658	T	0.10637	0.0260	.	.	.	0.19300	N	0.999975	B	0.31859	0.343	B	0.32864	0.154	T	0.24621	-1.0155	9	0.09338	T	0.73	-1.2724	9.5593	0.39360	0.0:0.8323:0.0:0.1677	.	106	Q9H4K1	RIBC2_HUMAN	S	106;174	ENSP00000342529:R106S;ENSP00000444196:R174S	ENSP00000342529:R106S	R	+	1	0	RIBC2	44192469	0.009000	0.17119	0.204000	0.23530	0.077000	0.17291	0.683000	0.25349	2.067000	0.61834	0.563000	0.77884	CGT		0.418	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		3	23	3	23	---	---	---	---	A	45813805	C	A	45813805	3	1	128	1	0	0	0	0	1	0	0	0	13353	652	23	1	529	1	RIBC2	22	45813805	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	3354786	45813805	5490761	232	5870										
STAG2	10735	broad.mit.edu	37	chrX	123200045	123200045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcccatgacctttcaaagtGggatttatttgcttgtaatt	8	7	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.chrX:123200045G>T	ENST00000371160.1	+	22	2407	c.2117G>T	c.(2116-2118)tGg>tTg	p.W706L	STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732). {ECO:0000305}.	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						CTTTCAAAGTGGGATTTATTT	0.284																																						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.(2116-2118)tGg>tTg		stromal antigen 2							68	69	69					X																	123200045		2202	4298	6500	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:123200045G>T	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.2117G>T	X.37:g.123200045G>T	ENSP00000360202:p.Trp706Leu		Somatic				STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L	p.W706L	NM_001282418.1	NP_001269347.1	WXS	Illumina GAIIx	Phase_I	Q8N3U4	STAG2_HUMAN			22	2407	+			706	W -> R (in Ref. 5; CAA99732).				B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2117G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820481	0.71028	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.38	5.38	0.77491	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.76433	2.335	0.80722	D	1	D;D	0.67145	0.99;0.996	P;D	0.68039	0.897;0.955	T	0.53180	-0.8475	10	0.32370	T	0.25	-21.7395	18.2804	0.90096	0.0:0.0:1.0:0.0	.	706;706	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	706;637;706;706;706;706	ENSP00000218089:W706L;ENSP00000346555:W637L;ENSP00000360202:W706L;ENSP00000360199:W706L;ENSP00000360187:W706L;ENSP00000360186:W706L	ENSP00000218089:W706L	W	+	2	0	STAG2	123027726	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.255000	0.74692	0.600000	0.82982	TGG		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		4	53	4	53	---	---	---	---	T	123200045	G	T	123200045	3	4	128	1	0	0	0	0	1	0	0	0	15242	1357	47	1	2195	1	STAG2	23	123200045	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		123200045	32070515	233	5871										
PDZD4	57595	broad.mit.edu	37	chrX	153073955	153073955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccccggaggcgggggctGcgtctcagcacctggatcac	14	16	2	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_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_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			Somatic				PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	p.R52R	NM_032512.2	NP_115901.2	WXS	Illumina GAIIx	Phase_I	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	5	7	---	---	---	---	A	153073955	G	A	153073955	2	1	128	1	0	0	0	0	0	0	0	1	11703	1306	46	2		2	PDZD4	23	153073955	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	29873910	153073955	2196605	234	5872										
MECP2	4204	broad.mit.edu	37	chrX	153296742	153296742	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgccagttcctggagctttGggagatttgggcttcttagg	14	8	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.chrX:153296742G>T	ENST00000303391.6	-	4	786	c.537C>A	c.(535-537)ccC>ccA	p.P179P	MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.P191P|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	179					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)					CTGGAGCTTTGGGAGATTTGG	0.612																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(535-537)ccC>ccA		methyl CpG binding protein 2 (Rett syndrome)							67	69	68					X																	153296742		2203	4300	6503	SO:0001819	synonymous_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:153296742G>T	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.537C>A	X.37:g.153296742G>T			Somatic				MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.P191P	p.P179P	NM_004992.3	NP_004983.1	WXS	Illumina GAIIx	Phase_I	P51608	MECP2_HUMAN			4	786	-	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)		179					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.537C>A	CCDS14741.1																																																																																				0.612	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		5	77	5	77	---	---	---	---	T	153296742	G	T	153296742	2	4	128	1	0	0	0	0	0	0	0	1	9423	1335	47	1		1	MECP2	23	153296742	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	222787	153296742	1973818	235	5873										
F8	2157	broad.mit.edu	37	chrX	154158637	154158637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atactaattgctttggactgGggccttgcccagagttcaga	11	9	1	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.chrX:154158637G>T	ENST00000360256.4	-	14	3628	c.3428C>A	c.(3427-3429)cCc>cAc	p.P1143H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1143	B.				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)	CTTTGGACTGGGGCCTTGCCC	0.413																																						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.(3427-3429)cCc>cAc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						65	68	67					X																	154158637		2202	4297	6499	SO:0001583	missense	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:154158637G>T	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.3428C>A	X.37:g.154158637G>T	ENSP00000353393:p.Pro1143His		Somatic					p.P1143H	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	3628	-	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)		1143			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.3428C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	0.773	-0.765113	0.02996	.	.	ENSG00000185010	ENST00000360256	D	0.99369	-5.78	5.47	2.6	0.31112	.	0.918041	0.09319	N	0.818481	D	0.97654	0.9231	L	0.59436	1.845	0.09310	N	1	B	0.18741	0.03	B	0.12156	0.007	D	0.94638	0.7828	10	0.41790	T	0.15	-0.1526	4.9412	0.13967	0.189:0.0:0.6449:0.166	.	1143	P00451	FA8_HUMAN	H	1143	ENSP00000353393:P1143H	ENSP00000353393:P1143H	P	-	2	0	F8	153811831	0.005000	0.15991	0.000000	0.03702	0.088000	0.18126	1.038000	0.30254	0.461000	0.27071	0.597000	0.82753	CCC		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	66	5	66	---	---	---	---	T	154158637	G	T	154158637	3	4	128	1	0	0	0	0	1	0	0	0	5350	1232	43	1	3707	1	F8	23	154158637	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	861895	154158637	1111923	236	5874										
MFN2	9927	broad.mit.edu	37	chr1	12058937	12058937	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gtccaccctgatgcagacggTaactcctcctctgccttctc	7	17	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.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			Somatic				MFN2_ENST00000444836.1_Splice_Site		NM_014874.3	NP_055689.1	WXS	Illumina GAIIx	Phase_I	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	14	120	---	---	---	---	A	12058937	T	A	12058937	5	1	129	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	5875										
LRRIQ3	127255	broad.mit.edu	37	chr1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gctctttgtggtgcaaaaaaCtctttcatactccgctccaa	6	12	3	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.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		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	p.E406D	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	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	15	74	---	---	---	---	A	74507397	C	A	74507397	3	1	129	1	0	0	0	0	1	0	0	0	9030	564	20	3	664	3	LRRIQ3	1	74507397	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	62448460	74507397	174743224	2	5876										
ARHGAP30	257106	broad.mit.edu	37	chr1	161022538	161022538	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	ataaggtcctcggggctgccTgatgcccgggtccctggaag	15	12	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.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	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			Somatic				ARHGAP30_ENST00000368016.3_Silent_p.S238S|ARHGAP30_ENST00000368015.1_Silent_p.S61S	p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	C	161022538	T	C	161022538	2	2	129	1	0	0	0	0	0	0	0	1	879	1567	55	2		2	ARHGAP30	1	161022538	Silent	SNP	T	TCGA-G9-6348-01A-11D-1786-08	86515141	161022538	88228083	3	5877										
GALNT13	114805	broad.mit.edu	37	chr2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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)ttafs		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		Somatic				GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	p.L215fs	NM_052917.2	NP_443149.2	WXS	Illumina GAIIx	Phase_I	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	129	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		155099377	88099996	4	5878										
SCN7A	6332	broad.mit.edu	37	chr2	167262810	167262810	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tcagaccatttactgttgaaAattgcatcaagcatcccatc	5	11	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.chr2:167262810A>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			Somatic					p.I1443I	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	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	32	132	---	---	---	---	T	167262810	A	T	167262810	2	4	129	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	12163433	167262810	75936563	5	5879										
CLASP2	23122	broad.mit.edu	37	chr3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	caagggctttctgaacttttGcctgaacagatccaagcaaa	8	10	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.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		Somatic				CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G	p.A974G	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	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	31	177	---	---	---	---	C	33602330	G	C	33602330	3	2	129	1	0	0	0	0	1	0	0	0	3455	1319	46	4	1668	4	CLASP2	3	33602330	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		33602330	164420100	6	5880										
EPHA3	2042	broad.mit.edu	37	chr3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	ccctcgacagtttggactcaCcaacaccacggtgacagtga	9	14	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.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_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)	Somatic				EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	p.T390N	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	4	71	---	---	---	---	A	89391103	C	A	89391103	3	1	129	1	0	0	0	0	1	0	0	0	5168	507	18	3	1187	3	EPHA3	3	89391103	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	55788773	89391103	108631327	7	5881										
TMPRSS11D	9407	broad.mit.edu	37	chr4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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)cagttafs		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		Somatic				TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	p.QL64fs	NM_004262.2	NP_004253.1	WXS	Illumina GAIIx	Phase_I	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	129	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		68719842	122434434	8	5882										
ADAM29	11086	broad.mit.edu	37	chr4	175897858	175897858	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	acagtacacacaaaggacatCtttaatgtgaagcgctgtgg	10	8	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.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|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	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			Somatic				ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	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	28	129	---	---	---	---	T	175897858	C	T	175897858	2	4	129	1	0	0	0	0	0	0	0	1	247	903	32	2		2	ADAM29	4	175897858	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08	107178016	175897858	15256418	9	5883										
PPP2R2B	5521	broad.mit.edu	37	chr5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gcctgtcacacagggcagatGcccgcatgtcacacagccgg	12	15	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.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V			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		Somatic				PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V	p.A254V			WXS	Illumina GAIIx	Phase_I	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	8	68	---	---	---	---	A	146017843	G	A	146017843	3	1	129	1	0	0	0	0	1	0	0	0	12385	1319	46	2	586	2	PPP2R2B	5	146017843	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		146017843	34897417	10	5884										
MOXD1	26002	broad.mit.edu	37	chr6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tgttgtagcgacactcagtaAttaggttatctccctgaaac	8	9	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.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		Somatic				MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	p.I440T	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	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	6	24	---	---	---	---	G	132641814	A	G	132641814	3	3	129	1	0	0	0	0	1	0	0	0	9720	101	4	2	538	2	MOXD1	6	132641814	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08		132641814	38473253	11	5885										
MLLT4	4301	broad.mit.edu	37	chr6	168297653	168297653	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tggatgacaactctatccagGtacgtagtctgagcttcctg	10	10	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.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			Somatic				MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	T	168297653	G	T	168297653	5	4	129	1	0	0	0	0	0	0	1	0	9629	1275	44	3	1356	3	MLLT4	6	168297653	Splice_Site	SNP	G	TCGA-G9-6348-01A-11D-1786-08	35655839	168297653	2817414	12	5886										
GALNTL5	168391	broad.mit.edu	37	chr7	151664546	151664547	+	Missense_Mutation	DNP	GG	GG	AC													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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.chr7:151664546_151664547GG>AC	ENST00000392800.2	+	2	469_470	c.215_216GG>AC	c.(214-216)aGG>aAC	p.R72N	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72N	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)|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)		ATAGTCAAAAGGACTGATGAAG	0.371																																						ENST00000392800.2																			2	Substitution - Missense(2)	p.R72K(1)|p.R72S(1)	prostate(2)	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|c.(214-216)agG>agC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5																																				SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664546G>A|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	Exception_encountered	7.37:g.151664546_151664547delinsAC	ENSP00000376548:p.Arg72Asn		Somatic				GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K|GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	p.R72K|p.R72S	NM_145292.3	NP_660335.2	WXS	Illumina GAIIx	Phase_I	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|470	+	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|c.216G>C	CCDS5929.1																																																																																				0.371	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		4	41|39	4	39	---	---	---	---	AC	151664547	GG	AC	151664546	3	1	129	1	0	0	0	0	1	0	0	0	6224	1000	35	2	217	2	GALNTL5	7	151664546	Missense_Mutation	DNP	GG	TCGA-G9-6348-01A-11D-1786-08		151664546	7474117	13	5887										
ZFHX4	79776	broad.mit.edu	37	chr8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	agcaagagggtgcagtgaatCccgaatcctgctattactac	10	10	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.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_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)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S	p.P1042S	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	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	25	99	---	---	---	---	T	77690474	C	T	77690474	3	4	129	1	0	0	0	0	1	0	0	0	17632	855	30	2	3134	2	ZFHX4	8	77690474	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08		77690474	68673548	14	5888										
SLC37A4	2542	broad.mit.edu	37	chr11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gtagcccccaaacatggctgAgaagatcacagtgcgataat	10	10	1	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_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|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	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		Somatic				SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	p.S15A	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	C	118900037	A	C	118900037	3	2	129	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		118900037	16106479	15	5889										
APPL2	55198	broad.mit.edu	37	chr12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	ccttgatacttgagtctgtgGatctatcaacctgaaatttt	7	8	3	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.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000546731.1_5'Flank	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		Somatic				APPL2_ENST00000539978.2_Missense_Mutation_p.P506S|APPL2_ENST00000551662.1_Missense_Mutation_p.P555S	p.P549S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	A	105571030	G	A	105571030	3	1	129	1	0	0	0	0	1	0	0	0	818	1174	41	2	365	2	APPL2	12	105571030	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		105571030	28280865	16	5890										
LRRC49	54839	broad.mit.edu	37	chr15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	aaaaaaacctggtattatcaAcgaagaaaataatgacagca	6	6	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.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_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S	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		Somatic				LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000436542.2_3'UTR|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	WXS	Illumina GAIIx	Phase_I	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	4	114	---	---	---	---	G	71329574	A	G	71329574	3	3	129	1	0	0	0	0	1	0	0	0	9006	43	2	2	1818	2	LRRC49	15	71329574	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08		71329574	31201818	17	5891										
IRX5	10265	broad.mit.edu	37	chr16	54966502	54966502	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tcgtacccttacggggacccAgcgtaccggaagaacgccac	11	15	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.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_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron			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			Somatic				IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000560154.1_Intron	p.P114P			WXS	Illumina GAIIx	Phase_I	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	17	81	---	---	---	---	G	54966502	A	G	54966502	2	3	129	1	0	0	0	0	0	0	0	1	7847	175	7	2		2	IRX5	16	54966502	Silent	SNP	A	TCGA-G9-6348-01A-11D-1786-08		54966502	35388251	18	5892										
DNAH2	146754	broad.mit.edu	37	chr17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	ctactcagatgagaaacccgAcgagaagtggatcctgttcg	11	10	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.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		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V	p.D2160V			WXS	Illumina GAIIx	Phase_I	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	11	45	---	---	---	---	T	7690227	A	T	7690227	3	4	129	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	19	5893										
MYH4	4622	broad.mit.edu	37	chr17	10355525	10355525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tgggctgaagtggccccaccGgcttcttccagcctctcact	10	16	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.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	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	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			Somatic				RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.A1157A	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	34	125	---	---	---	---	A	10355525	G	A	10355525	2	1	129	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	20	5894										
VEZF1	7716	broad.mit.edu	37	chr17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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)aaafs		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		Somatic				VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs	p.K42fs			WXS	Illumina GAIIx	Phase_I	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	129	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	45705110	56060635	25134575	21	5895										
CSH2	1443	broad.mit.edu	37	chr17	61949662	61949663	+	Missense_Mutation	DNP	GG	GG	CA													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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.chr17:61949662_61949663GG>CA	ENST00000392886.2	-	5	628_629	c.477_478CC>TG	c.(475-480)cgCCgg>cgTGgg	p.R160G	CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|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.R159R(1)|p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCGT	0.55																																						ENST00000392886.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R160G(1)|p.R159R(1)	prostate(2)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(478-480)Cgg>Ggg|c.(475-477)cgC>cgT		chorionic somatomammotropin hormone 2																																				SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949662G>C|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.477_478delinsCA	17.37:g.61949662_61949663delinsCA	ENSP00000376623:p.Arg160Gly		Somatic				CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000560142.1_Silent_p.R102R	p.R160G|p.R159R	NM_020991.3	NP_066271.1	WXS	Illumina GAIIx	Phase_I	P01243	CSH_HUMAN			5	629|628	-			160|159					P01243|Q0VDB1|Q14407	Missense_Mutation|Silent	SNP	ENST00000392886.2	37	c.478C>G|c.477C>T	CCDS42369.1																																																																																				0.55	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		28|27	124|119	27	119	---	---	---	---	CA	61949663	GG	CA	61949662	3	2	129	1	0	0	0	0	1	0	0	0	3941	1115	39	4	179	4	CSH2	17	61949662	Missense_Mutation	DNP	GG	TCGA-G9-6348-01A-11D-1786-08	5889027	61949662	19245548	22	5896										
DSG2	1829	broad.mit.edu	37	chr18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	cctggatcaccgcccccgtgGctcttcgggagggagaggat	15	13	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.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		Somatic				DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	p.A57T	NM_001943.3	NP_001934.2	WXS	Illumina GAIIx	Phase_I	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	15	70	---	---	---	---	A	29099853	G	A	29099853	3	1	129	1	0	0	0	0	1	0	0	0	4777	1203	42	2	179	2	DSG2	18	29099853	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		29099853	48977395	23	5897										
ZNF333	84449	broad.mit.edu	37	chr19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-													0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	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)tcctatgcatgtaacaaatgtfs		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		Somatic				ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	p.SYACNKC365fs	NM_032433.2	NP_115809.1	WXS	Illumina GAIIx	Phase_I	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	129	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	24	5898										
SIGLEC9	27180	broad.mit.edu	37	chr19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gggtgcacctgagggatgcaGctgaattcacctgcagagct	14	10	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.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		Somatic				SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	p.A316P	NM_001198558.1	NP_001185487.1	WXS	Illumina GAIIx	Phase_I	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	8	45	---	---	---	---	C	51630484	G	C	51630484	3	2	129	1	0	0	0	0	1	0	0	0	14315	971	34	4	960	4	SIGLEC9	19	51630484	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	36801251	51630484	7498499	25	5899										
PRKCG	5582	broad.mit.edu	37	chr19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	cgctgggaagggcccccagaCggacgtgagtgctcggacac	16	13	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.chr19:54387493C>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		Somatic				PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	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	14	67	---	---	---	---	T	54387493	C	T	54387493	3	4	129	1	0	0	0	0	1	0	0	0	12512	536	19	2	291	2	PRKCG	19	54387493	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	2757009	54387493	4741490	26	5900										
ZNF749	388567	broad.mit.edu	37	chr19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	tgtgggaaagacttcaacaaAtgtaatactggtcagcgcca	10	8	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.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		Somatic				AC004076.9_ENST00000596831.1_Intron	p.K735N	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	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	18	89	---	---	---	---	C	57956721	A	C	57956721	3	2	129	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	27	5901										
TUBB1	81027	broad.mit.edu	37	chr20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	gtggtgaggcacgagagtgaGagctgtgactgcctgcaggg	19	7	0	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.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		Somatic					p.E125D	NM_030773.3	NP_110400.1	WXS	Illumina GAIIx	Phase_I	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	19	108	---	---	---	---	C	57598857	G	C	57598857	3	2	129	1	0	0	0	0	1	0	0	0	16750	933	33	4	389	4	TUBB1	20	57598857	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		57598857	5426663	28	5902										
PACSIN2	11252	broad.mit.edu	37	chr22	43267420	43267420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	ccaacttgcccgttgtccaaGcgtcccttgcaccagccctg	8	18	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.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R|PACSIN2_ENST00000407585.1_Silent_p.R427R	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			Somatic				PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R	p.R468R	NM_001184970.1	NP_001171899.1	WXS	Illumina GAIIx	Phase_I	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	10	45	---	---	---	---	A	43267420	G	A	43267420	2	1	129	1	0	0	0	0	0	0	0	1	11375	958	34	2		2	PACSIN2	22	43267420	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		43267420	8037146	29	5903										
DMD	1756	broad.mit.edu	37	chrX	32536160	32536160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	1.19212962962963	2.38425925925926	0.794753086419753	1	1	0	taagtctgagaagttgccttCcttccgaaagattgcaaatt	8	8	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.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000288447.4_Missense_Mutation_p.E745K|DMD_ENST00000378677.2_Missense_Mutation_p.E749K	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		Somatic				DMD_ENST00000378677.2_Missense_Mutation_p.E749K|DMD_ENST00000288447.4_Missense_Mutation_p.E745K	p.E753K	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	WXS	Illumina GAIIx	Phase_I	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	12	18	---	---	---	---	T	32536160	C	T	32536160	3	4	129	1	0	0	0	0	1	0	0	0	4580	864	30	2	9291	2	DMD	23	32536160	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08		32536160	122734400	30	5904										
NOC2L	26155	broad.mit.edu	37	chr1	892349	892349	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttccccttcagccctctGgggactctgtccccatcttc	6	18	5	0			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.chr1:892349G>T	ENST00000327044.6	-	4	460	c.411C>A	c.(409-411)ccC>ccA	p.P137P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	137					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGCCCTCTGGGGACTCTGT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(409-411)ccC>ccA		nucleolar complex associated 2 homolog (S. cerevisiae)							144	147	146					1																	892349		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892349G>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.411C>A	1.37:g.892349G>T			Somatic				NOC2L_ENST00000487214.1_5'UTR	p.P137P	NM_015658.3	NP_056473	WXS	Illumina GAIIx	Phase_I	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	460	-	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)	137					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.411C>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	164	7	164	---	---	---	---	T	892349	G	T	892349	2	4	130	1	0	0	0	0	0	0	0	1	10513	1335	47	1		1	NOC2L	1	892349	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08		892349	248358272	1	5905										
TMEM201	199953	broad.mit.edu	37	chr1	9662326	9662326	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccacggaggttccggcccCgaaggtcagagaagcagcca	14	14	1	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.chr1:9662326C>A	ENST00000340381.6	+	6	1165	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TMEM201_ENST00000340305.5_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	386					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)		GTTCCGGCCCCGAAGGTCAGA	0.642																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(1156-1158)Cga>Aga		transmembrane protein 201							23	22	22					1																	9662326		2200	4300	6500	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9662326C>A		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.1156C>A	1.37:g.9662326C>A			Somatic				TMEM201_ENST00000340381.6_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	p.R386R	NM_001010866.3	NP_001010866.1	WXS	Illumina GAIIx	Phase_I	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	1165	+	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)	386					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.1156C>A	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361575	0.24684	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.75	2.73	0.32206	.	.	.	.	.	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59182	-0.7502	5	0.36615	T	0.2	-3.9904	11.1266	0.48322	0.3328:0.6672:0.0:0.0	.	.	.	.	Q	295	.	ENSP00000393626:P295Q	P	+	2	0	TMEM201	9584913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.072000	0.57563	0.965000	0.38133	0.457000	0.33378	CCG		0.642	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		4	20	4	20	---	---	---	---	A	9662326	C	A	9662326	2	1	130	1	0	0	0	0	0	0	0	1	16123	644	23	1		1	TMEM201	1	9662326	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8769977	9662326	239588295	2	5906										
HSPG2	3339	broad.mit.edu	37	chr1	22157724	22157724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacctggcagggccggtccCgacaggtggggcagtgggag	19	11	1	0	rs144525987	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.chr1:22157724C>A	ENST00000374695.3	-	84	11625	c.11546G>T	c.(11545-11547)cGg>cTg	p.R3849L	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3849	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GGGCCGGTCCCGACAGGTGGG	0.682																																						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.(11545-11547)cGg>cTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						87	95	92					1																	22157724		2203	4299	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157724C>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.11546G>T	1.37:g.22157724C>A	ENSP00000363827:p.Arg3849Leu		Somatic					p.R3849L	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	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)	84	11625	-		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)	3849			EGF-like 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.11546G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.747901	0.49257	.	.	ENSG00000142798	ENST00000374695	D	0.91843	-2.92	5.46	1.51	0.23008	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.551628	0.13760	N	0.364673	T	0.76681	0.4021	N	0.02345	-0.59	0.29216	N	0.874233	B;B	0.32283	0.292;0.362	B;B	0.29785	0.061;0.107	T	0.70741	-0.4789	10	0.30854	T	0.27	.	7.1399	0.25550	0.0:0.5021:0.0:0.4979	.	1789;3849	Q59EG0;P98160	.;PGBM_HUMAN	L	3849	ENSP00000363827:R3849L	ENSP00000363827:R3849L	R	-	2	0	HSPG2	22030311	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.079000	0.30766	0.433000	0.26313	0.457000	0.33378	CGG		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	125	5	125	---	---	---	---	A	22157724	C	A	22157724	3	1	130	1	0	0	0	0	1	0	0	0	7430	652	23	1	1685	1	HSPG2	1	22157724	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	12495398	22157724	227092897	3	5907										
MYOM3	127294	broad.mit.edu	37	chr1	24388587	24388587	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttatccgatcaccactctcCagacgtttgtctctgaatgt	6	13	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.chr1:24388587C>A	ENST00000374434.3	-	33	3945	c.3783G>T	c.(3781-3783)ctG>ctT	p.L1261L	MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000330966.7_Silent_p.L1264L|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1261						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)		CACCACTCTCCAGACGTTTGT	0.517																																						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.(3790-3792)ctG>ctT		myomesin 3							154	153	153					1																	24388587		1949	4133	6082	SO:0001819	synonymous_variant	127294							g.chr1:24388587C>A	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.3783G>T	1.37:g.24388587C>A			Somatic				MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000374434.3_Silent_p.L1261L|RP11-293P20.2_ENST00000439239.2_RNA	p.L1264L			WXS	Illumina GAIIx	Phase_I	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)	33	3954	-		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)	1261					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.3792G>T	CCDS41281.1																																																																																				0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		6	172	6	172	---	---	---	---	A	24388587	C	A	24388587	2	1	130	1	0	0	0	0	0	0	0	1	10093	581	21	1		1	MYOM3	1	24388587	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2230863	24388587	224862034	4	5908										
AHDC1	27245	broad.mit.edu	37	chr1	27878163	27878163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccgggtggcggtgcaggcGggcggctcagtcggagccca	20	13	1	0	rs201594464		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.chr1:27878163G>T	ENST00000247087.5	-	5	1060	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.P155Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	155	Pro-rich.						DNA binding (GO:0003677)	p.P155Q(2)		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)		CGGTGCAGGCGGGCGGCTCAG	0.637																																						ENST00000374011.2																			2	Substitution - Missense(2)	p.P155Q(2)	lung(2)	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.(463-465)cCg>cAg		AT hook, DNA binding motif, containing 1							103	107	106					1																	27878163		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27878163G>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.464C>A	1.37:g.27878163G>T	ENSP00000247087:p.Pro155Gln		Somatic				AHDC1_ENST00000247087.5_Missense_Mutation_p.P155Q	p.P155Q	NM_001029882.2	NP_001025053.1	WXS	Illumina GAIIx	Phase_I	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	1432	-		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)	155			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.464C>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096574	0.56075	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.43294	0.95;0.95	4.35	3.36	0.38483	.	.	.	.	.	T	0.29190	0.0726	N	0.14661	0.345	0.30443	N	0.776005	D	0.53312	0.959	B	0.43274	0.414	T	0.24190	-1.0167	9	0.72032	D	0.01	-4.594	12.5026	0.55964	0.0:0.17:0.83:0.0	.	155	Q5TGY3	AHDC1_HUMAN	Q	155	ENSP00000247087:P155Q;ENSP00000363123:P155Q	ENSP00000247087:P155Q	P	-	2	0	AHDC1	27750750	0.986000	0.35501	0.913000	0.36048	0.626000	0.37791	2.006000	0.40874	1.961000	0.56991	0.305000	0.20034	CCG		0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	162	5	162	---	---	---	---	T	27878163	G	T	27878163	3	4	130	1	0	0	0	0	1	0	0	0	412	1116	39	1	4351	1	AHDC1	1	27878163	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3489576	27878163	221372458	5	5909										
C1orf38	9473	broad.mit.edu	37	chr1	28203119	28203119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctccatctatgagatctctGggaatgagtgctgcctctcc	10	12	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.chr1:28203119G>T	ENST00000373921.3	+	2	119	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	39	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGATCTCTGGGAATGAGTG	0.597																																						ENST00000373921.3																			0											c.(115-117)Ggg>Tgg		thymocyte selection associated family member 2							127	115	119					1																	28203119		2203	4300	6503	SO:0001583	missense	9473							g.chr1:28203119G>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.115G>T	1.37:g.28203119G>T	ENSP00000363031:p.Gly39Trp		Somatic				THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W	p.G39W	NM_001105556.1	NP_001099026.1	WXS	Illumina GAIIx	Phase_I					2	119	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.115G>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648251	0.47258	.	.	ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373927;ENST00000442118;ENST00000373921	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.81802	2.56	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;1.0;1.0;1.0;1.0	T	0.54536	-0.8279	10	0.87932	D	0	-44.008	18.2613	0.90037	0.0:0.0:1.0:0.0	.	39;39;39;39;39	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8;Q5TEJ8-4;Q5TEJ8-2	.;.;THMS2_HUMAN;.;.	W	39	ENSP00000363035:G39W;ENSP00000329862:G39W;ENSP00000363037:G39W;ENSP00000413725:G39W;ENSP00000363031:G39W	ENSP00000329862:G39W	G	+	1	0	C1orf38	28075706	1.000000	0.71417	0.955000	0.39395	0.218000	0.24690	8.562000	0.90719	2.657000	0.90304	0.650000	0.86243	GGG		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		8	135	8	135	---	---	---	---	T	28203119	G	T	28203119	3	4	130	1	0	0	0	0	1	0	0	0	2039	1348	47	1	121	1	C1orf38	1	28203119	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	324956	28203119	221047502	6	5910										
DNAJC8	22826	broad.mit.edu	37	chr1	28530322	28530322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcttcaatctcttcttccCtttgtcgtttcctaggagga	8	11	3	0			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.chr1:28530322C>A	ENST00000263697.4	-	8	601	c.575G>T	c.(574-576)aGg>aTg	p.R192M	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	192					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCTTCCCTTTGTCGTTT	0.413																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(574-576)aGg>aTg		DnaJ (Hsp40) homolog, subfamily C, member 8							128	112	117					1																	28530322		1846	4087	5933	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28530322C>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.575G>T	1.37:g.28530322C>A	ENSP00000263697:p.Arg192Met		Somatic				DNAJC8_ENST00000489277.1_5'UTR	p.R192M	NM_014280.2	NP_055095.2	WXS	Illumina GAIIx	Phase_I	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	8	601	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	192					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.575G>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394943	0.83011	.	.	ENSG00000126698	ENST00000263697	T	0.67171	-0.25	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.84011	0.0348	10	0.56958	D	0.05	-15.5833	18.2919	0.90133	0.0:1.0:0.0:0.0	.	192	O75937	DNJC8_HUMAN	M	192	ENSP00000263697:R192M	ENSP00000263697:R192M	R	-	2	0	DNAJC8	28402909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.944000	0.75940	2.388000	0.81334	0.650000	0.86243	AGG		0.413	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		5	87	5	87	---	---	---	---	A	28530322	C	A	28530322	3	1	130	1	0	0	0	0	1	0	0	0	4655	681	24	1	194	1	DNAJC8	1	28530322	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	327203	28530322	220720299	7	5911										
FABP3	2170	broad.mit.edu	37	chr1	31842339	31842339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttagggtgagaatgtcccCattcttttcgatgattgtgg	11	6	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.chr1:31842339C>A	ENST00000373713.2	-	2	200	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	47					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		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;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		AGAATGTCCCCATTCTTTTCG	0.488																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(139-141)Ggg>Tgg		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)							406	346	367					1																	31842339		2203	4300	6503	SO:0001583	missense	2170				negative regulation of cell proliferation			g.chr1:31842339C>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"Fatty acid binding protein family"	3557	protein-coding gene	gene with protein product		134651	"fatty acid binding protein 11"	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.139G>T	1.37:g.31842339C>A	ENSP00000362817:p.Gly47Trp		Somatic				FABP3_ENST00000497275.1_5'UTR	p.G47W	NM_004102.3	NP_004093.1	WXS	Illumina GAIIx	Phase_I	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	2	200	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	47					B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	c.139G>T	CCDS342.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452293	0.84209	.	.	ENSG00000121769	ENST00000373713	T	0.61980	0.06	5.0	5.0	0.66597	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	H	0.95151	3.63	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.89711	0.3912	10	0.87932	D	0	.	18.4939	0.90856	0.0:1.0:0.0:0.0	.	47	P05413	FABPH_HUMAN	W	47	ENSP00000362817:G47W	ENSP00000362817:G47W	G	-	1	0	FABP3	31614926	1.000000	0.71417	0.946000	0.38457	0.875000	0.50365	7.562000	0.82300	2.770000	0.95276	0.650000	0.86243	GGG		0.488	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		6	175	6	175	---	---	---	---	A	31842339	C	A	31842339	3	1	130	1	0	0	0	0	1	0	0	0	5358	594	21	1	274	1	FABP3	1	31842339	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3312017	31842339	217408282	8	5912										
EIF2C1	26523	broad.mit.edu	37	chr1	36383945	36383945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggaagagtggtaacatccCagctgggaccacagtggaca	14	9	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.chr1:36383945C>A	ENST00000373204.4	+	17	2399	c.2186C>A	c.(2185-2187)cCa>cAa	p.P729Q	AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	729	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)										GGTAACATCCCAGCTGGGACC	0.512																																						ENST00000373204.4																			0											c.(2185-2187)cCa>cAa		argonaute RISC catalytic component 1							312	289	297					1																	36383945		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36383945C>A	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.2186C>A	1.37:g.36383945C>A	ENSP00000362300:p.Pro729Gln		Somatic				AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	p.P729Q	NM_012199.2	NP_036331.1	WXS	Illumina GAIIx	Phase_I					17	2399	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2186C>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592722	0.86953	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.29655	1.56;1.56	5.61	5.61	0.85477	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.90705	3.14	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.67444	-0.5669	10	0.51188	T	0.08	-5.393	20.0016	0.97412	0.0:1.0:0.0:0.0	.	729	Q9UL18	AGO1_HUMAN	Q	654;729	ENSP00000362302:P654Q;ENSP00000362300:P729Q	ENSP00000362300:P729Q	P	+	2	0	EIF2C1	36156532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.806000	0.86020	2.802000	0.96397	0.655000	0.94253	CCA		0.512	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			8	228	8	228	---	---	---	---	A	36383945	C	A	36383945	3	1	130	1	0	0	0	0	1	0	0	0	5005	594	21	1	2252	1	EIF2C1	1	36383945	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4541606	36383945	212866676	9	5913										
ZC3H12A	80149	broad.mit.edu	37	chr1	37948984	37948984	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatacccactgcccccaccCacatcagtccttcaggagcc	5	21	2	0			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.chr1:37948984C>A	ENST00000373087.6	+	6	1688	c.1572C>A	c.(1570-1572)ccC>ccA	p.P524P		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)				TGCCCCCACCCACATCAGTCC	0.667																																						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.(1570-1572)ccC>ccA		zinc finger CCCH-type containing 12A							63	75	71					1																	37948984		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948984C>A		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.1572C>A	1.37:g.37948984C>A			Somatic					p.P524P	NM_025079.2	NP_079355.2	WXS	Illumina GAIIx	Phase_I	Q5D1E8	ZC12A_HUMAN			6	1688	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1572C>A	CCDS417.1																																																																																				0.667	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		6	118	6	118	---	---	---	---	A	37948984	C	A	37948984	2	1	130	1	0	0	0	0	0	0	0	1	17558	581	21	1		1	ZC3H12A	1	37948984	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1565039	37948984	211301637	10	5914										
PTCH2	8643	broad.mit.edu	37	chr1	45297648	45297648	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctctcaggacacttaccCgctcaatcattccattttca	3	16	4	0			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.chr1:45297648C>A	ENST00000372192.3	-	4	654	c.524G>T	c.(523-525)cGg>cTg	p.R175L	PTCH2_ENST00000447098.2_Splice_Site_p.R175L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	175				R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375). {ECO:0000305}.	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)	p.R175L(1)		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)					GACACTTACCCGCTCAATCAT	0.507									Basal Cell Nevus syndrome																													ENST00000447098.2																			1	Substitution - Missense(1)	p.R175L(1)	lung(1)	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.(523-525)cGg>cTg		patched 2							110	116	114					1																	45297648		2203	4300	6503	SO:0001630	splice_region_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.chr1:45297648C>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.525+1G>T	1.37:g.45297648C>A			Somatic				PTCH2_ENST00000372192.3_Splice_Site_p.R175L	p.R175L	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C5	PTC2_HUMAN			4	535	-	Acute lymphoblastic leukemia(166;0.155)		175	R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375).				O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Splice_Site	SNP	ENST00000372192.3	37	c.524G>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567218	0.86439	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92595	-3.06;-3.07	4.39	4.39	0.52855	.	0.000000	0.41712	D	0.000838	D	0.94052	0.8094	L	0.60455	1.87	0.58432	D	0.999998	D	0.61697	0.99	P	0.62298	0.9	D	0.93186	0.6579	10	0.35671	T	0.21	-19.5825	15.8855	0.79244	0.0:1.0:0.0:0.0	.	175	Q9Y6C5	PTC2_HUMAN	L	175	ENSP00000389703:R175L;ENSP00000361266:R175L	ENSP00000361266:R175L	R	-	2	0	PTCH2	45070235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.277000	0.58939	2.271000	0.75665	0.462000	0.41574	CGG		0.507	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	Missense_Mutation	6	171	6	171	---	---	---	---	A	45297648	C	A	45297648	5	1	130	1	0	0	0	0	0	0	1	0	12731	666	23	1	3183	1	PTCH2	1	45297648	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	7348664	45297648	203952973	11	5915										
HECTD3	79654	broad.mit.edu	37	chr1	45475081	45475081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcttcttcaggttgtcccCttcacccccatagaccacca	5	18	3	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.chr1:45475081C>A	ENST00000372172.4	-	6	1020	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	317	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)	p.G317W(1)|p.G33W(1)		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)					AGGTTGTCCCCTTCACCCCCA	0.532																																						ENST00000372172.4																			2	Substitution - Missense(2)	p.G317W(1)|p.G33W(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(949-951)Ggg>Tgg		HECT domain containing E3 ubiquitin protein ligase 3							258	265	263					1																	45475081		2138	4241	6379	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.chr1:45475081C>A	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.949G>T	1.37:g.45475081C>A	ENSP00000361245:p.Gly317Trp		Somatic					p.G317W	NM_024602.5	NP_078878.3	WXS	Illumina GAIIx	Phase_I	Q5T447	HECD3_HUMAN			6	1020	-	Acute lymphoblastic leukemia(166;0.155)		317			DOC.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.949G>T	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257480	0.59321	.	.	ENSG00000126107	ENST00000372172	T	0.66995	-0.24	4.87	4.87	0.63330	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.74728	-0.3567	10	0.49607	T	0.09	.	11.8527	0.52419	0.0:0.9185:0.0:0.0815	.	317	Q5T447	HECD3_HUMAN	W	317	ENSP00000361245:G317W	ENSP00000361245:G317W	G	-	1	0	HECTD3	45247668	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.365000	0.59486	2.422000	0.82143	0.655000	0.94253	GGG		0.532	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		14	283	14	283	---	---	---	---	A	45475081	C	A	45475081	3	1	130	1	0	0	0	0	1	0	0	0	7041	681	24	1	1700	1	HECTD3	1	45475081	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	177433	45475081	203775540	12	5916										
C1orf175	374977	broad.mit.edu	37	chr1	55144482	55144482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaagcatttcctggggccCtacaaccctgtgagcccgtg	10	14	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.chr1:55144482C>A	ENST00000421030.2	+	11	2289	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P	MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000395690.2_Silent_p.P668P|MROH7-TTC4_ENST00000414150.2_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	668						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCTGGGGCCCTACAACCCTG	0.577																																						ENST00000414150.2																			0											c.(2002-2004)ccC>ccA									87	95	93					1																	55144482		1971	4140	6111	SO:0001819	synonymous_variant	100527960							g.chr1:55144482C>A	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.2004C>A	1.37:g.55144482C>A			Somatic				MROH7_ENST00000395690.2_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P|MROH7_ENST00000421030.2_Silent_p.P668P	p.P668P			WXS	Illumina GAIIx	Phase_I					11	2282	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.2004C>A	CCDS41342.2																																																																																				0.577	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		5	66	5	66	---	---	---	---	A	55144482	C	A	55144482	2	1	130	1	0	0	0	0	0	0	0	1	2016	668	24	1		1	C1orf175	1	55144482	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	9669401	55144482	194106139	13	5917										
SEC22B	9554	broad.mit.edu	37	chr1	145109576	145109576	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttatgtgaagctgccttcCctaagacgttggcttttgcc	9	10	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.chr1:145109576C>A	ENST00000453618.1	+	0	565							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCTGCCTTCCCTAAGACGTT	0.428																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							445	436	439					1																	145109576		2041	4195	6236			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109576C>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109576C>A			Somatic								WXS	Illumina GAIIx	Phase_I	O75396	SC22B_HUMAN			0	565	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		10	525	10	525	---	---	---	---	A	145109576	C	A	145109576	1	1	130	0	1	0	0	0	0	0	0	0	13989	623	22	1		1	SEC22B	1	145109576	RNA	SNP	C	TCGA-G9-6351-01A-21D-1961-08	89965094	145109576	104141045	14	5918										
CHD1L	9557	broad.mit.edu	37	chr1	146765330	146765330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcatcgtgatcgttccaaTgtcctgtctggcattaagat	9	10	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.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	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			Somatic				CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	p.N810N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	WXS	Illumina GAIIx	Phase_I	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	26	151	---	---	---	---	C	146765330	T	C	146765330	2	2	130	1	0	0	0	0	0	0	0	1	3324	1461	51	2		2	CHD1L	1	146765330	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08	1655754	146765330	102485291	15	5919										
SELENBP1	8991	broad.mit.edu	37	chr1	151339248	151339248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgtaagacattgggagctGcccactcagtgctgatcatg	11	11	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.chr1:151339248G>T	ENST00000368868.5	-	6	705	c.614C>A	c.(613-615)gCa>gAa	p.A205E	SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E|SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000426705.2_Missense_Mutation_p.A247E|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	205					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.A205E(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)			ATTGGGAGCTGCCCACTCAGT	0.587																																						ENST00000426705.2																			1	Substitution - Missense(1)	p.A205E(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(739-741)gCa>gAa		selenium binding protein 1							217	180	192					1																	151339248		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151339248G>T	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.614C>A	1.37:g.151339248G>T	ENSP00000357861:p.Ala205Glu		Somatic				SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A205E|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E	p.A247E	NM_001258289.1	NP_001245218.1	WXS	Illumina GAIIx	Phase_I	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	884	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		205					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.740C>A	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540721|4.540721	0.85917|0.85917	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705|ENST00000424475	.|.	.|.	.|.	5.22|5.22	4.28|4.28	0.50868|0.50868	.|.	0.052893|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.67700|0.67700	2.07|2.07	0.40172|0.40172	D|D	0.977188|0.977188	P;D;D;P;P;D;P|.	0.58970|.	0.946;0.984;0.984;0.953;0.741;0.973;0.853|.	P;D;D;P;P;P;P|.	0.63703|.	0.741;0.917;0.917;0.864;0.648;0.809;0.794|.	T|T	0.63028|0.63028	-0.6728|-0.6728	9|5	0.72032|.	D|.	0.01|.	-13.3816|-13.3816	13.5488|13.5488	0.61719|0.61719	0.0:0.423:0.577:0.0|0.0:0.423:0.577:0.0	.|.	143;247;165;189;58;141;205|.	B4E1F3;A6PVW9;A6PVW8;A6PVX1;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;.;.;SBP1_HUMAN|.	E|K	205;143;141;189;247|166	.|.	ENSP00000357861:A205E|.	A|Q	-|-	2|1	0|0	SELENBP1|SELENBP1	149605872|149605872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.707000|3.707000	0.54838|0.54838	1.272000|1.272000	0.44329|0.44329	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.587	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			6	194	6	194	---	---	---	---	T	151339248	G	T	151339248	3	4	130	1	0	0	0	0	1	0	0	0	14014	1319	46	3	832	3	SELENBP1	1	151339248	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	4573918	151339248	97911373	16	5920										
FLG2	388698	broad.mit.edu	37	chr1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacccacttgaattgctatAaccacatgcatgacttcgcc	5	14	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.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y282N	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	33	157	---	---	---	---	T	152329418	A	T	152329418	3	4	130	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	990170	152329418	96921203	17	5921										
HAX1	10456	broad.mit.edu	37	chr1	154247929	154247929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacagagactacagtaaccCgacacgaagcagatagcagt	11	10	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.chr1:154247929C>A	ENST00000328703.7	+	6	937	c.724C>A	c.(724-726)Cga>Aga	p.R242R	HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R|HAX1_ENST00000532105.1_Silent_p.R114R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	242	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				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)	p.R242R(1)		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)			TACAGTAACCCGACACGAAGC	0.493									Kostmann syndrome																													ENST00000328703.7																			1	Substitution - coding silent(1)	p.R242R(1)	lung(1)	cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(724-726)Cga>Aga		HCLS1 associated protein X-1							141	148	146					1																	154247929		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:154247929C>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.724C>A	1.37:g.154247929C>A			Somatic				HAX1_ENST00000532105.1_Silent_p.R114R|HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R	p.R242R	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	937	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		242			Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	ENST00000328703.7	37	c.724C>A	CCDS1064.1																																																																																				0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		5	191	5	191	---	---	---	---	A	154247929	C	A	154247929	2	1	130	1	0	0	0	0	0	0	0	1	6975	644	23	1		1	HAX1	1	154247929	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1918511	154247929	95002692	18	5922										
ATP8B2	57198	broad.mit.edu	37	chr1	154317895	154317895	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaagttcctgcagcgcctCctgctggtgcatgggcgctg	13	13	1	0			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.chr1:154317895C>A	ENST00000368489.3	+	23	2667	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	875					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)			TGCAGCGCCTCCTGCTGGTGC	0.532											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.(2665-2667)ctC>ctA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							243	249	247					1																	154317895		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.chr1:154317895C>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.2667C>A	1.37:g.154317895C>A			Somatic	OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.L889L	NM_020452.3	NP_065185.1	WXS	Illumina GAIIx	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2667	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		875					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.2667C>A	CCDS1066.1																																																																																				0.532	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		10	434	10	434	---	---	---	---	A	154317895	C	A	154317895	2	1	130	1	0	0	0	0	0	0	0	1	1195	842	30	3		3	ATP8B2	1	154317895	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	69966	154317895	94932726	19	5923										
OR10K1	391109	broad.mit.edu	37	chr1	158435737	158435737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatatggccatctgtaaccCactgcgctactcagtgctca	7	14	3	0			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.chr1:158435737C>A	ENST00000289451.2	+	1	466	c.386C>A	c.(385-387)cCa>cAa	p.P129Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	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(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)					ATCTGTAACCCACTGCGCTAC	0.552																																						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.(385-387)cCa>cAa		olfactory receptor, family 10, subfamily K, member 1							210	198	202					1																	158435737		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435737C>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.386C>A	1.37:g.158435737C>A	ENSP00000289451:p.Pro129Gln		Somatic					p.P129Q	NM_001004473.1	NP_001004473.1	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			1	466	+	all_hematologic(112;0.0378)		129					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.386C>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	15.43	2.830047	0.50845	.	.	ENSG00000173285	ENST00000289451	T	0.01902	4.57	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000672	T	0.16428	0.0395	H	0.97491	4.015	0.41696	D	0.989374	D	0.89917	1.0	D	0.91635	0.999	T	0.27297	-1.0078	10	0.87932	D	0	.	16.1284	0.81410	0.0:1.0:0.0:0.0	.	129	Q8NGX5	O10K1_HUMAN	Q	129	ENSP00000289451:P129Q	ENSP00000289451:P129Q	P	+	2	0	OR10K1	156702361	1.000000	0.71417	0.927000	0.36925	0.093000	0.18481	7.098000	0.76974	2.311000	0.77944	0.557000	0.71058	CCA		0.552	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			7	193	7	193	---	---	---	---	A	158435737	C	A	158435737	3	1	130	1	0	0	0	0	1	0	0	0	10913	594	21	1	388	1	OR10K1	1	158435737	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4117842	158435737	90814884	20	5924										
ATP1A2	477	broad.mit.edu	37	chr1	160097494	160097494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggggtcgctgtattcctgGgggtctccttcttcgtgctc	13	12	2	0	rs121918612		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.chr1:160097494G>T	ENST00000361216.3	+	8	990	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	301					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)			TGTATTCCTGGGGGTCTCCTT	0.577																																						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	GRCh37	CM045040	ATP1A2	M	rs121918612	c.(901-903)Ggg>Tgg		ATPase, Na+/K+ transporting, alpha 2 polypeptide							143	134	137					1																	160097494		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097494G>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.901G>T	1.37:g.160097494G>T	ENSP00000354490:p.Gly301Trp		Somatic				ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	p.G301W	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	990	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		301					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.901G>T	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.583813|4.583813	0.86748|0.86748	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233|ENST00000447527	D;D|.	0.91068|.	-2.78;-2.78|.	4.89|4.89	4.89|4.89	0.63831|0.63831	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87553|0.87553	0.6206|0.6206	H|H	0.97806|0.97806	4.08|4.08	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|D	0.92196|0.92196	0.5764|0.5764	10|5	0.87932|.	D|.	0|.	.|.	17.1782|17.1782	0.86846|0.86846	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	146;201;301|.	B4DHD7;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	W|C	146;301;301|11	ENSP00000354490:G301W;ENSP00000376066:G301W|.	ENSP00000354490:G301W|.	G|W	+|+	1|3	0|0	ATP1A2|ATP1A2	158364118|158364118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.779000|9.779000	0.99018|0.99018	2.410000|2.410000	0.81850|0.81850	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		7	196	7	196	---	---	---	---	T	160097494	G	T	160097494	3	4	130	1	0	0	0	0	1	0	0	0	1129	1232	43	1	931	1	ATP1A2	1	160097494	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1661757	160097494	89153127	21	5925										
FCRLB	127943	broad.mit.edu	37	chr1	161693343	161693343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcattgaggtgcagacacCaggggtgtatcgatgccaga	15	8	0	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.chr1:161693343C>A	ENST00000367948.2	+	5	454	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	80	Ig-like C2-type 1.				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)			GTGCAGACACCAGGGGTGTAT	0.592																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(238-240)cCa>cAa		Fc receptor-like B							94	84	88					1																	161693343		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693343C>A	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.239C>A	1.37:g.161693343C>A	ENSP00000356925:p.Pro80Gln		Somatic				FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q	p.P80Q			WXS	Illumina GAIIx	Phase_I	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	454	+	all_hematologic(112;0.0359)		80			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.239C>A	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452387	0.84209	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126603	0.36338	N	0.002654	T	0.21103	0.0508	L	0.43152	1.355	0.35880	D	0.828896	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	P;D;D;D;D	0.75484	0.905;0.984;0.952;0.984;0.986	T	0.00802	-1.1560	10	0.66056	D	0.02	.	15.1472	0.72667	0.0:1.0:0.0:0.0	.	73;73;80;80;80	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	Q	80;80;73;80;73;80	ENSP00000356925:P80Q;ENSP00000356923:P80Q;ENSP00000356922:P73Q;ENSP00000338598:P80Q;ENSP00000356921:P73Q;ENSP00000375999:P80Q	ENSP00000338598:P80Q	P	+	2	0	FCRLB	159959967	0.999000	0.42202	0.994000	0.49952	0.950000	0.60333	3.627000	0.54252	2.629000	0.89072	0.655000	0.94253	CCA		0.592	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		5	92	5	92	---	---	---	---	A	161693343	C	A	161693343	3	1	130	1	0	0	0	0	1	0	0	0	5801	594	21	1	249	1	FCRLB	1	161693343	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1595849	161693343	87557278	22	5926										
F5	2153	broad.mit.edu	37	chr1	169511557	169511557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcactaggagggtccttcCagggcctcattctggaagga	13	10	3	0			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.chr1:169511557C>A	ENST00000367797.3	-	13	2972	c.2771G>T	c.(2770-2772)tGg>tTg	p.W924L	F5_ENST00000367796.3_Missense_Mutation_p.W929L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	924	2 X 17 AA tandem repeats.|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)	AGGGTCCTTCCAGGGCCTCAT	0.488																																						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.(2785-2787)tGg>tTg		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						106	112	110					1																	169511557		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.chr1:169511557C>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.2771G>T	1.37:g.169511557C>A	ENSP00000356771:p.Trp924Leu		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.W924L	p.W929L			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	2987	-	all_hematologic(923;0.208)		924			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2786G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	3.185	-0.167156	0.06461	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20463	2.07;2.07	5.11	0.332	0.15938	.	1.361850	0.04255	N	0.339246	T	0.02848	0.0085	N	0.14661	0.345	0.23309	N	0.997936	B	0.02656	0.0	B	0.01281	0.0	T	0.34850	-0.9812	9	0.12430	T	0.62	.	4.229	0.10594	0.1653:0.5151:0.0:0.3196	.	924	P12259	FA5_HUMAN	L	924;929	ENSP00000356771:W924L;ENSP00000356770:W929L	ENSP00000356770:W929L	W	-	2	0	F5	167778181	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.178000	0.16820	0.178000	0.19917	0.458000	0.33432	TGG		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		6	144	6	144	---	---	---	---	A	169511557	C	A	169511557	3	1	130	1	0	0	0	0	1	0	0	0	5348	595	21	1	3955	1	F5	1	169511557	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	7818214	169511557	79739064	23	5927										
FAM129A	116496	broad.mit.edu	37	chr1	184787940	184787940	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctccaagcagcttttctcCgccggctgggccaccatcgc	9	18	2	0			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.chr1:184787940C>A	ENST00000367511.3	-	9	1198	c.1005G>T	c.(1003-1005)gcG>gcT	p.A335A	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	335					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						AGCTTTTCTCCGCCGGCTGGG	0.547																																						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.(1003-1005)gcG>gcT		family with sequence similarity 129, member A							110	113	112					1																	184787940		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:184787940C>A	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.1005G>T	1.37:g.184787940C>A			Somatic				FAM129A_ENST00000487074.1_5'UTR	p.A335A	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			9	1198	-			335					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1005G>T	CCDS1364.1																																																																																				0.547	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			5	169	5	169	---	---	---	---	A	184787940	C	A	184787940	2	1	130	1	0	0	0	0	0	0	0	1	5436	639	23	1		1	FAM129A	1	184787940	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	15276383	184787940	64462681	24	5928										
PRG4	10216	broad.mit.edu	37	chr1	186275976	186275976	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaccatcaagtctgcaccCaccacccccaaggagcctgc	6	20	2	0	rs374026500		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.chr1:186275976C>A	ENST00000445192.2	+	7	1170	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	PRG4_ENST00000367483.4_Silent_p.P334P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367485.4_Silent_p.P282P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	375	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						AGTCTGCACCCACCACCCCCA	0.637																																						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.(1123-1125)ccC>ccA		proteoglycan 4							175	168	171					1																	186275976		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275976C>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.1125C>A	1.37:g.186275976C>A			Somatic				PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367485.4_Silent_p.P282P|PRG4_ENST00000367483.4_Silent_p.P334P	p.P375P	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	Q92954	PRG4_HUMAN			7	1170	+			375			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1125C>A	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	110	6	110	---	---	---	---	A	186275976	C	A	186275976	2	1	130	1	0	0	0	0	0	0	0	1	12481	581	21	1		1	PRG4	1	186275976	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1488036	186275976	62974645	25	5929										
PARP1	142	broad.mit.edu	37	chr1	226550822	226550822	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgacactgtgcttgcccttGggtaacttgctgatatgtga	11	8	0	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.chr1:226550822G>T	ENST00000366794.5	-	21	2969	c.2826C>A	c.(2824-2826)ccC>ccA	p.P942P	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	942	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)			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)		GCTTGCCCTTGGGTAACTTGC	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.(2824-2826)ccC>ccA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							194	158	170					1																	226550822		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.chr1:226550822G>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.2826C>A	1.37:g.226550822G>T			Somatic				PARP1_ENST00000490921.1_5'UTR	p.P942P	NM_001618.3	NP_001609.2	WXS	Illumina GAIIx	Phase_I	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	21	2969	-	Breast(184;0.133)		942			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2826C>A	CCDS1554.1																																																																																				0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		5	98	5	98	---	---	---	---	T	226550822	G	T	226550822	2	4	130	1	0	0	0	0	0	0	0	1	11454	1335	47	1		1	PARP1	1	226550822	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	40274846	226550822	22699799	26	5930										
SIPA1L2	57568	broad.mit.edu	37	chr1	232579422	232579422	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggaggatgactggttgctGggtgagcttctgaaaggttg	17	5	1	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.chr1:232579422G>T	ENST00000366630.1	-	11	3721	c.3363C>A	c.(3361-3363)ccC>ccA	p.P1121P	SIPA1L2_ENST00000262861.4_Silent_p.P1121P|SIPA1L2_ENST00000308942.4_Silent_p.P195P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1121					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)				ACTGGTTGCTGGGTGAGCTTC	0.493																																						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.(3361-3363)ccC>ccA		signal-induced proliferation-associated 1 like 2							77	88	85					1																	232579422		1957	4148	6105	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232579422G>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.3363C>A	1.37:g.232579422G>T			Somatic				SIPA1L2_ENST00000308942.4_Silent_p.P195P|SIPA1L2_ENST00000262861.4_Silent_p.P1121P	p.P1121P			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			11	3721	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1121					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3363C>A	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	143	6	143	---	---	---	---	T	232579422	G	T	232579422	2	4	130	1	0	0	0	0	0	0	0	1	14330	1335	47	1		1	SIPA1L2	1	232579422	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	6028600	232579422	16671199	27	5931										
NID1	4811	broad.mit.edu	37	chr1	236205549	236205549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attggtggtggctggactccCaatctcaaacacccagacac	9	13	1	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.chr1:236205549C>A	ENST00000264187.6	-	4	878	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	NID1_ENST00000366595.3_Missense_Mutation_p.G266W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	266	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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)	GCTGGACTCCCAATCTCAAAC	0.547																																						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.(796-798)Ggg>Tgg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						185	187	187					1																	236205549		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205549C>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.796G>T	1.37:g.236205549C>A	ENSP00000264187:p.Gly266Trp		Somatic				NID1_ENST00000366595.3_Missense_Mutation_p.G266W	p.G266W	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	878	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	266			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.796G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183654	0.57800	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.75260	-0.92;-0.92	5.29	5.29	0.74685	Nidogen, extracellular domain (3);	0.150102	0.64402	D	0.000011	D	0.87341	0.6153	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88726	0.3233	10	0.87932	D	0	.	17.2737	0.87109	0.0:1.0:0.0:0.0	.	266;266	P14543-2;P14543	.;NID1_HUMAN	W	266	ENSP00000264187:G266W;ENSP00000355554:G266W	ENSP00000264187:G266W	G	-	1	0	NID1	234272172	0.998000	0.40836	0.831000	0.32960	0.101000	0.19017	3.904000	0.56325	2.749000	0.94314	0.563000	0.77884	GGG		0.547	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		7	274	7	274	---	---	---	---	A	236205549	C	A	236205549	3	1	130	1	0	0	0	0	1	0	0	0	10414	594	21	1	3015	1	NID1	1	236205549	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3626127	236205549	13045072	28	5932										
HEATR1	55127	broad.mit.edu	37	chr1	236734959	236734959	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggtgtattccatatttccCtgctcttgtggcaagggttc	10	9	1	0			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.chr1:236734959C>A	ENST00000366582.3	-	27	3849	c.3735G>T	c.(3733-3735)caG>caT	p.Q1245H	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1245					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)			CCATATTTCCCTGCTCTTGTG	0.378																																						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.(3733-3735)caG>caT		HEAT repeat containing 1							132	131	131					1																	236734959		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734959C>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.3735G>T	1.37:g.236734959C>A	ENSP00000355541:p.Gln1245His		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	p.Q1245H	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		27	3849	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1245					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3735G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284568	0.59867	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66995	-0.24;3.4	5.58	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.172873	0.52532	N	0.000067	T	0.47783	0.1464	L	0.35854	1.095	0.80722	D	1	B;P	0.38788	0.093;0.647	B;B	0.29598	0.046;0.104	T	0.39375	-0.9617	10	0.56958	D	0.05	.	7.0456	0.25044	0.0:0.6511:0.1255:0.2234	.	1164;1245	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	1245;1164	ENSP00000355541:Q1245H;ENSP00000355540:Q1164H	ENSP00000355540:Q1164H	Q	-	3	2	HEATR1	234801582	0.281000	0.24258	0.998000	0.56505	0.939000	0.58152	0.181000	0.16880	0.278000	0.22164	0.585000	0.79938	CAG		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		5	55	5	55	---	---	---	---	A	236734959	C	A	236734959	3	1	130	1	0	0	0	0	1	0	0	0	7027	680	24	1	2775	1	HEATR1	1	236734959	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	529410	236734959	12515662	29	5933										
GREB1	9687	broad.mit.edu	37	chr2	11718500	11718500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagagcacggctgccttcCccagcgagcccgttcctggg	14	15	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.chr2:11718500C>A	ENST00000381486.2	+	6	1015	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	239						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)		GGCTGCCTTCCCCAGCGAGCC	0.617																																					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.(715-717)Ccc>Acc		growth regulation by estrogen in breast cancer 1							87	86	86					2																	11718500		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11718500C>A		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.715C>A	2.37:g.11718500C>A	ENSP00000370896:p.Pro239Thr		Somatic				GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	p.P239T	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	6	1015	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		239					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.715C>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.250278	0.01469	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.41065	3.37;2.37;1.01;2.36;3.37	5.71	-4.73	0.03259	.	1.042200	0.07555	N	0.916086	T	0.14700	0.0355	N	0.11427	0.14	0.19945	N	0.999945	B;B;B;B	0.21753	0.002;0.06;0.007;0.0	B;B;B;B	0.18871	0.011;0.023;0.015;0.0	T	0.28038	-1.0056	10	0.05959	T	0.93	-13.0525	2.3485	0.04278	0.1772:0.2661:0.0863:0.4703	.	239;129;239;239	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	T	239;239;129;239;239	ENSP00000370896:P239T;ENSP00000263834:P239T;ENSP00000374475:P129T;ENSP00000370892:P239T;ENSP00000234142:P239T	ENSP00000234142:P239T	P	+	1	0	GREB1	11635951	0.010000	0.17322	0.060000	0.19600	0.124000	0.20399	-0.386000	0.07370	-0.503000	0.06586	0.655000	0.94253	CCC		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	140	6	140	---	---	---	---	A	11718500	C	A	11718500	3	1	130	1	0	0	0	0	1	0	0	0	6760	623	22	1	733	1	GREB1	2	11718500	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		11718500	231480873	30	5934										
KCNK3	3777	broad.mit.edu	37	chr2	26950700	26950700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagaaggggctgggcatgcGgcgcgccgacgtgtccatgg	18	11	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.chr2:26950700G>T	ENST00000302909.3	+	2	574	c.449G>T	c.(448-450)cGg>cTg	p.R150L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					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)	CTGGGCATGCGGCGCGCCGAC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)cGg>cTg		potassium channel, subfamily K, member 3							71	65	67					2																	26950700		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950700G>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.449G>T	2.37:g.26950700G>T	ENSP00000306275:p.Arg150Leu		Somatic					p.R150L	NM_002246.2	NP_002237.1	WXS	Illumina GAIIx	Phase_I	O14649	KCNK3_HUMAN			2	574	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.449G>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607821	0.87258	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.21734	1.99	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.83483	2.645	0.49389	D	0.999787	D	0.55800	0.973	P	0.56042	0.79	T	0.50127	-0.8864	10	0.72032	D	0.01	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	150	O14649	KCNK3_HUMAN	L	27;150	ENSP00000306275:R150L	ENSP00000306275:R150L	R	+	2	0	KCNK3	26804204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.757000	0.74924	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		5	102	5	102	---	---	---	---	T	26950700	G	T	26950700	3	4	130	1	0	0	0	0	1	0	0	0	8067	1116	39	1	455	1	KCNK3	2	26950700	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	15232200	26950700	216248673	31	5935										
CGREF1	10669	broad.mit.edu	37	chr2	27324270	27324270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggcctctgcctggccccCagcttcccctctgggcccgg	11	21	2	0			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.chr2:27324270C>A	ENST00000260595.5	-	7	1070	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	CGREF1_ENST00000402394.1_Missense_Mutation_p.G277W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	260					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCCCAGCTTCCCCT	0.637																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(829-831)Ggg>Tgg		cell growth regulator with EF-hand domain 1							132	150	144					2																	27324270		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324270C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.778G>T	2.37:g.27324270C>A	ENSP00000260595:p.Gly260Trp		Somatic				CGREF1_ENST00000260595.5_Missense_Mutation_p.G260W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W	p.G277W	NM_006569.5	NP_006560.3	WXS	Illumina GAIIx	Phase_I	Q99674	CGRE1_HUMAN			6	1097	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		260					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.829G>T		.	.	.	.	.	.	.	.	.	.	C	11.08	1.534539	0.27475	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80480	-1.19;-1.19;-1.19;-1.24;-1.38	5.3	-1.01	0.10169	.	.	.	.	.	T	0.73953	0.3653	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.64487	-0.6396	6	0.59425	D	0.04	-17.5109	4.1981	0.10453	0.249:0.4593:0.0:0.2917	.	.	.	.	W	277;277;260;277;399;260	ENSP00000385452:G277W;ENSP00000386113:G277W;ENSP00000324025:G277W;ENSP00000385574:G399W;ENSP00000260595:G260W	ENSP00000260595:G260W	G	-	1	0	CGREF1	27177774	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.289000	0.08365	-0.528000	0.06366	-0.298000	0.09462	GGG		0.637	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		9	377	9	377	---	---	---	---	A	27324270	C	A	27324270	3	1	130	1	0	0	0	0	1	0	0	0	3305	594	21	1	323	1	CGREF1	2	27324270	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	373570	27324270	215875103	32	5936										
CEP68	23177	broad.mit.edu	37	chr2	65299088	65299088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattccctgcctccatcaccCgaccgccactcccctctctg	5	22	2	0			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.chr2:65299088C>A	ENST00000377990.2	+	3	1061	c.858C>A	c.(856-858)ccC>ccA	p.P286P	CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000546106.1_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	286					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCATCACCCGACCGCCACT	0.577																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(856-858)ccC>ccA		centrosomal protein 68kDa							69	79	76					2																	65299088		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65299088C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.858C>A	2.37:g.65299088C>A			Somatic				RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Silent_p.P286P	p.P286P	NM_015147.2	NP_055962.2	WXS	Illumina GAIIx	Phase_I	Q76N32	CEP68_HUMAN			3	1061	+			286					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.858C>A	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		6	160	6	160	---	---	---	---	A	65299088	C	A	65299088	2	1	130	1	0	0	0	0	0	0	0	1	3258	639	23	1		1	CEP68	2	65299088	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	37974818	65299088	177900285	33	5937										
DYSF	8291	broad.mit.edu	37	chr2	71730401	71730401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcgccacccctagtctgtcCgccagcttcaatgcccccct	6	21	2	0			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.chr2:71730401C>A	ENST00000258104.3	+	4	571	c.294C>A	c.(292-294)tcC>tcA	p.S98S	DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000394120.2_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000413539.2_Silent_p.S98S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	98					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						CTAGTCTGTCCGCCAGCTTCA	0.587																																						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.(292-294)tcC>tcA		dysferlin							112	111	111					2																	71730401		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71730401C>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.294C>A	2.37:g.71730401C>A			Somatic				DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000413539.2_Silent_p.S98S|DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000394120.2_Silent_p.S99S	p.S98S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			4	571	+			98					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.294C>A	CCDS1918.1																																																																																				0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	138	5	138	---	---	---	---	A	71730401	C	A	71730401	2	1	130	1	0	0	0	0	0	0	0	1	4859	639	23	1		1	DYSF	2	71730401	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	6431313	71730401	171468972	34	5938										
TTC31	64427	broad.mit.edu	37	chr2	74720244	74720244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accccaaccagcccctctccCagactcagagtagaaggccc	7	19	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.chr2:74720244C>A	ENST00000233623.5	+	13	1466	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	487										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCTCTCCCAGACTCAGAG	0.597																																						ENST00000233623.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(1459-1461)Cag>Aag		tetratricopeptide repeat domain 31							105	111	109					2																	74720244		1928	4114	6042	SO:0001583	missense	64427						binding	g.chr2:74720244C>A	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1459C>A	2.37:g.74720244C>A	ENSP00000233623:p.Gln487Lys		Somatic				TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	p.Q487K	NM_022492.4	NP_071937.4	WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			13	1466	+			487					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.1459C>A	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963722|1.963722	0.34659|0.34659	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000435361|ENST00000233623	.|T	.|0.64803	.|-0.12	3.63|3.63	3.63|3.63	0.41609|0.41609	.|.	.|0.354377	.|0.26016	.|N	.|0.026860	T|T	0.45498|0.45498	0.1345|0.1345	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999995|0.999995	.|B;P	.|0.40970	.|0.11;0.734	.|B;B	.|0.34652	.|0.145;0.187	T|T	0.42932|0.42932	-0.9422|-0.9422	6|10	0.87932|0.30854	D|T	0|0.27	.|.	10.9893|10.9893	0.47541|0.47541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|455;487	.|Q86XF2;Q49AM3	.|.;TTC31_HUMAN	Q|K	152|487	.|ENSP00000233623:Q487K	ENSP00000397652:P152Q|ENSP00000233623:Q487K	P|Q	+|+	2|1	0|0	TTC31|TTC31	74573752|74573752	0.954000|0.954000	0.32549|0.32549	0.187000|0.187000	0.23214|0.23214	0.110000|0.110000	0.19582|0.19582	2.888000|2.888000	0.48594|0.48594	2.031000|2.031000	0.59945|0.59945	0.491000|0.491000	0.48974|0.48974	CCA|CAG		0.597	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		8	167	8	167	---	---	---	---	A	74720244	C	A	74720244	3	1	130	1	0	0	0	0	1	0	0	0	16697	595	21	1	1509	1	TTC31	2	74720244	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2989843	74720244	168479129	35	5939										
C2orf65	130951	broad.mit.edu	37	chr2	74789417	74789417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgggcagcatcagttccCgcgtggccaccgcctttacc	11	16	1	0			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.chr2:74789417C>A	ENST00000290536.5	-	8	1324	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	M1AP_ENST00000536235.1_Missense_Mutation_p.R403L|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	403					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)		p.R403Q(1)									CATCAGTTCCCGCGTGGCCAC	0.587																																						ENST00000290536.5																			1	Substitution - Missense(1)	p.R403Q(1)	endometrium(1)								c.(1207-1209)cGg>cTg		meiosis 1 associated protein							201	170	181					2																	74789417		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74789417C>A		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.1208G>T	2.37:g.74789417C>A	ENSP00000290536:p.Arg403Leu		Somatic				M1AP_ENST00000358434.2_Intron|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403L	p.R403L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	WXS	Illumina GAIIx	Phase_I					8	1324	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1208G>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618328	0.66787	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.50548	0.74;0.74;0.74	5.41	5.41	0.78517	.	0.129832	0.49305	D	0.000143	T	0.45357	0.1338	L	0.59436	1.845	0.80722	D	1	P;P;P	0.44241	0.554;0.554;0.829	B;B;B	0.38985	0.242;0.242;0.287	T	0.48375	-0.9041	10	0.46703	T	0.11	-13.6368	14.7033	0.69171	0.0:1.0:0.0:0.0	.	403;403;159	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	L	403	ENSP00000290536:R403L;ENSP00000386793:R403L;ENSP00000445662:R403L	ENSP00000290536:R403L	R	-	2	0	C2orf65	74642925	1.000000	0.71417	0.940000	0.37924	0.484000	0.33280	5.514000	0.67043	2.535000	0.85469	0.655000	0.94253	CGG		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		6	164	6	164	---	---	---	---	A	74789417	C	A	74789417	3	1	130	1	0	0	0	0	1	0	0	0	2184	652	23	1	400	1	C2orf65	2	74789417	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	69173	74789417	168409956	36	5940										
REG3G	130120	broad.mit.edu	37	chr2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtcccaaaggctccaagGcctatggctccccctgctat	9	16	0	0			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		Somatic				REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	p.A46S	NM_001008387.2	NP_001008388.1	WXS	Illumina GAIIx	Phase_I	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	12	58	---	---	---	---	T	79253898	G	T	79253898	3	4	130	1	0	0	0	0	1	0	0	0	13213	1203	42	3	142	3	REG3G	2	79253898	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	4464481	79253898	163945475	37	5941										
KIAA1310	55683	broad.mit.edu	37	chr2	97271200	97271200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgtcgcttcagctgaaccCtaagatcctctttctctcct	7	14	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.chr2:97271200C>A	ENST00000431828.1	-	15	1866	c.1790G>T	c.(1789-1791)aGg>aTg	p.R597M	KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.R510M			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	623					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)											CAGCTGAACCCTAAGATCCTC	0.502																																						ENST00000599854.1																			0											c.(1528-1530)aGg>aTg		KAT8 regulatory NSL complex subunit 3							114	115	115					2																	97271200		1987	4158	6145	SO:0001583	missense	55683							g.chr2:97271200C>A	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.1790G>T	2.37:g.97271200C>A	ENSP00000396749:p.Arg597Met		Somatic				KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.R597M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M	p.R510M	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			15	1996	-			623					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1529G>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158596	0.78226	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.55760	0.5;0.55	6.06	5.18	0.71444	.	0.165885	0.47852	D	0.000204	T	0.56140	0.1965	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.992;0.99;0.99;0.998	P;P;P;P	0.61592	0.707;0.73;0.799;0.891	T	0.58295	-0.7661	10	0.49607	T	0.09	.	12.9	0.58121	0.0:0.9223:0.0:0.0777	.	391;597;510;485	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	M	510;485;597;510;417;391	ENSP00000396749:R597M;ENSP00000406207:R417M	ENSP00000346144:R510M	R	-	2	0	KIAA1310	96634927	0.100000	0.21855	0.974000	0.42286	0.996000	0.88848	3.655000	0.54460	1.579000	0.49836	0.655000	0.94253	AGG		0.502	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		6	108	6	108	---	---	---	---	A	97271200	C	A	97271200	3	1	130	1	0	0	0	0	1	0	0	0	8222	681	24	1	874	1	KIAA1310	2	97271200	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	18017302	97271200	145928173	38	5942										
RPL31	6160	broad.mit.edu	37	chr2	101619172	101619172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctgcatttagatggctccCgcaaagaagggtggcgagaa	14	9	0	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.chr2:101619172C>A	ENST00000264258.3	+	2	610	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RPL31_ENST00000409711.1_Silent_p.P3P|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGATGGCTCCCGCAAAGAAGG	0.547																																						ENST00000409711.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						c.(7-9)ccC>ccA		ribosomal protein L31							56	55	55					2																	101619172		2203	4300	6503	SO:0001819	synonymous_variant	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101619172C>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.9C>A	2.37:g.101619172C>A			Somatic				RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000264258.3_Silent_p.P3P|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P	p.P3P			WXS	Illumina GAIIx	Phase_I	P62899	RL31_HUMAN			1	20	+			3					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Silent	SNP	ENST00000264258.3	37	c.9C>A	CCDS2049.1																																																																																				0.547	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577		4	59	4	59	---	---	---	---	A	101619172	C	A	101619172	2	1	130	1	0	0	0	0	0	0	0	1	13581	639	23	1		1	RPL31	2	101619172	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4347972	101619172	141580201	39	5943										
MAP4K4	9448	broad.mit.edu	37	chr2	102456434	102456434	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggatcatatagatcgtacCaggaagaagagaggcgagaa	13	5	1	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.chr2:102456434C>A	ENST00000347699.4	+	10	927	c.927C>A	c.(925-927)acC>acA	p.T309T	MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T|MAP4K4_ENST00000413150.2_Silent_p.T309T|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Silent_p.T309T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	309					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						TAGATCGTACCAGGAAGAAGA	0.403																																						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.(925-927)acC>acA		mitogen-activated protein kinase kinase kinase kinase 4							76	71	73					2																	102456434		1859	4096	5955	SO:0001819	synonymous_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.chr2:102456434C>A	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.927C>A	2.37:g.102456434C>A			Somatic				MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000425019.1_Silent_p.T309T|MAP4K4_ENST00000347699.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T	p.T309T	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	WXS	Illumina GAIIx	Phase_I	O95819	M4K4_HUMAN			10	982	+			309					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.927C>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883824	0.17467	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.91	2.95	0.34219	.	.	.	.	.	T	0.52517	0.1739	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44544	-0.9321	4	.	.	.	.	4.9006	0.13773	0.2507:0.4408:0.2429:0.0657	.	.	.	.	K	49	.	.	Q	+	1	0	MAP4K4	101822866	0.993000	0.37304	1.000000	0.80357	0.954000	0.61252	0.415000	0.21181	0.777000	0.33496	-0.176000	0.13171	CAG		0.403	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		5	82	5	82	---	---	---	---	A	102456434	C	A	102456434	2	1	130	1	0	0	0	0	0	0	0	1	9262	581	21	1		1	MAP4K4	2	102456434	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	837262	102456434	140742939	40	5944										
IWS1	55677	broad.mit.edu	37	chr2	128281334	128281334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccgtctgaccctgaatccCgttcatcctgtactggggta	9	14	2	2	rs569626200		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.chr2:128281334C>A	ENST00000295321.4	-	2	327	c.68G>T	c.(67-69)cGg>cTg	p.R23L	IWS1_ENST00000486662.1_Intron|IWS1_ENST00000455721.2_Missense_Mutation_p.R30L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	23					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.R23L(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)		CCCTGAATCCCGTTCATCCTG	0.423																																						ENST00000295321.4																			1	Substitution - Missense(1)	p.R23L(1)	lung(1)	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(67-69)cGg>cTg		IWS1 homolog (S. cerevisiae)							250	213	226					2																	128281334		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128281334C>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.68G>T	2.37:g.128281334C>A	ENSP00000295321:p.Arg23Leu		Somatic				IWS1_ENST00000455721.2_Missense_Mutation_p.R30L|IWS1_ENST00000486662.1_Intron	p.R23L	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	2	327	-	Colorectal(110;0.1)		23					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.68G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993841	0.93167	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.43294	0.95;0.97	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.57403	0.2051	L	0.53249	1.67	0.53005	D	0.99996	D	0.69078	0.997	P	0.59948	0.866	T	0.56195	-0.8019	10	0.56958	D	0.05	-11.7597	16.9798	0.86324	0.0:1.0:0.0:0.0	.	23	Q96ST2	IWS1_HUMAN	L	23;23;30;28	ENSP00000295321:R23L;ENSP00000399245:R30L	ENSP00000295321:R23L	R	-	2	0	IWS1	127997804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.064000	0.49986	2.741000	0.93983	0.650000	0.86243	CGG		0.423	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		5	239	5	239	---	---	---	---	A	128281334	C	A	128281334	3	1	130	1	0	0	0	0	1	0	0	0	7931	652	23	1	2443	1	IWS1	2	128281334	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	25824900	128281334	114918039	41	5945										
LRP1B	53353	broad.mit.edu	37	chr2	141777643	141777643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattatttccaatccagtcCacagcaatgccctctacatt	4	13	1	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.chr2:141777643C>A	ENST00000389484.3	-	12	2789	c.1818G>T	c.(1816-1818)gtG>gtT	p.V606V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	606					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)		CAATCCAGTCCACAGCAATGC	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.(1816-1818)gtG>gtT		low density lipoprotein receptor-related protein 1B							97	98	98					2																	141777643		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777643C>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.1818G>T	2.37:g.141777643C>A		TSP Lung(27;0.18)	Somatic					p.V606V	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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)	12	2789	-		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)	606					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1818G>T	CCDS2182.1																																																																																				0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	131	6	131	---	---	---	---	A	141777643	C	A	141777643	2	1	130	1	0	0	0	0	0	0	0	1	8955	581	21	1		1	LRP1B	2	141777643	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	13496309	141777643	101421730	42	5946										
LY75	4065	broad.mit.edu	37	chr2	160709826	160709826	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgtacaagcattcctctcCaaatgtcacaggaaagcggt	8	11	2	0			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.chr2:160709826C>A	ENST00000263636.4	-	20	2728	c.2701G>T	c.(2701-2703)Gga>Tga	p.G901*	LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	901	C-type lectin 5. {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)		CATTCCTCTCCAAATGTCACA	0.358																																						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.(2701-2703)Gga>Tga		lymphocyte antigen 75							91	94	93					2																	160709826		2203	4300	6503	SO:0001587	stop_gained	4065							g.chr2:160709826C>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.2701G>T	2.37:g.160709826C>A	ENSP00000263636:p.Gly901*		Somatic				LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*	p.G901*	NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	20	2728	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.2701G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.426821	0.97559	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.88	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-7.6096	8.1219	0.30976	0.1722:0.6417:0.1861:0.0	.	.	.	.	X	901	.	ENSP00000423463:G901X	G	-	1	0	LY75;LY75-CD302	160418072	0.419000	0.25449	0.521000	0.27850	0.575000	0.36095	1.237000	0.32695	0.726000	0.32339	0.561000	0.74099	GGA		0.358	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			5	87	5	87	---	---	---	---	A	160709826	C	A	160709826	4	1	130	1	0	0	0	0	0	1	0	0	9099	603	21	1	2531	1	LY75	2	160709826	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	18932183	160709826	82489547	43	5947										
SCN1A	6323	broad.mit.edu	37	chr2	166848589	166848589	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggcttactgttgagaatGggtgctagcaatccatccca	12	9	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.chr2:166848589G>T	ENST00000303395.4	-	26	5195	c.5196C>A	c.(5194-5196)ccC>ccA	p.P1732P	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.P1721P|SCN1A_ENST00000409050.1_Silent_p.P1704P|SCN1A_ENST00000423058.2_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1732					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)	TGTTGAGAATGGGTGCTAGCA	0.458																																						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.(5194-5196)ccC>ccA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						201	199	200					2																	166848589		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848589G>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.5196C>A	2.37:g.166848589G>T			Somatic				SCN1A_ENST00000375405.3_Silent_p.P1721P|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1704P	p.P1732P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			26	5213	-			1732					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5196C>A	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		8	275	8	275	---	---	---	---	T	166848589	G	T	166848589	2	4	130	1	0	0	0	0	0	0	0	1	13914	1335	47	1		1	SCN1A	2	166848589	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	6138763	166848589	76350784	44	5948										
CHN1	1123	broad.mit.edu	37	chr2	175677131	175677131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaaggtcacagctgtacacCtttttgacatgcttcaagtc	8	10	2	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.chr2:175677131C>A	ENST00000409900.3	-	9	1105	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.K80N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	264					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.K264N(1)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		2	Substitution - Missense(2)	p.K264N(1)|p.K139N(1)	lung(2)	NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(790-792)aaG>aaT		chimerin 1							202	187	192					2																	175677131		1988	4175	6163	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175677131C>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"Rho GTPase activating proteins", "SH2 domain containing"	1943	protein-coding gene	gene with protein product	"Chimerin 1 (GTPase-activating protein, rho, 2)", "chimaerin 1"	118423	"Duane retraction syndrome 2", "chimerin (chimaerin) 1"	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.792G>T	2.37:g.175677131C>A	ENSP00000386741:p.Lys264Asn		Somatic				CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N	p.K264N	NM_001822.5	NP_001813.1	WXS	Illumina GAIIx	Phase_I	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		9	1105	-			264					A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.792G>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017458	0.75161	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	T;T;T;T;T;T;T;T;D	0.92965	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;-3.14	6.05	0.585	0.17428	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.040721	0.85682	N	0.000000	D	0.91395	0.7285	L	0.45352	1.415	0.58432	D	0.999995	P;D;D	0.69078	0.952;0.975;0.997	P;P;D	0.63283	0.637;0.821;0.913	D	0.87850	0.2657	10	0.56958	D	0.05	.	6.317	0.21196	0.0:0.4025:0.1261:0.4714	.	238;264;139	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	N	264;139;80;238;56;39;82;90;156	ENSP00000386741:K264N;ENSP00000295497:K139N;ENSP00000386469:K80N;ENSP00000386470:K238N;ENSP00000386322:K56N;ENSP00000411911:K39N;ENSP00000410496:K82N;ENSP00000409798:K90N;ENSP00000392603:K156N	ENSP00000295497:K139N	K	-	3	2	CHN1	175385377	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.584000	0.23864	0.034000	0.15491	0.650000	0.86243	AAG		0.443	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		6	121	6	121	---	---	---	---	A	175677131	C	A	175677131	3	1	130	1	0	0	0	0	1	0	0	0	3362	680	24	1	607	1	CHN1	2	175677131	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8828542	175677131	67522242	45	5949										
TTN	7273	broad.mit.edu	37	chr2	179424579	179424579	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgacaatcaaggtcttcctCatttcactgtcaatatcaaa	4	10	6	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.chr2:179424579C>A	ENST00000591111.1	-	276	81581	c.81357G>T	c.(81355-81357)atG>atT	p.M27119I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28760I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27119	Ig-like 129.				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)			AGGTCTTCCTCATTTCACTGT	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.(86278-86280)atG>atT		titin							147	142	143					2																	179424579		1971	4167	6138	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424579C>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.81357G>T	2.37:g.179424579C>A	ENSP00000465570:p.Met27119Ile		Somatic				TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27119I|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN-AS1_ENST00000592750.1_RNA	p.M28760I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86504	-			27119			Fibronectin type-III 109.		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.86280G>T		.	.	.	.	.	.	.	.	.	.	C	13.95	2.390371	0.42410	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61859	0.07;0.23;0.22;0.19	5.87	4.99	0.66335	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48624	0.1510	L	0.29908	0.895	0.58432	D	0.999997	B;B;B;B	0.31125	0.309;0.201;0.309;0.201	B;B;B;B	0.28232	0.087;0.087;0.087;0.087	T	0.51888	-0.8648	9	0.87932	D	0	.	17.5919	0.87999	0.0:0.8768:0.1232:0.0	.	19695;19820;19887;27119	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26192;19695;19887;19820;19692	ENSP00000343764:M26192I;ENSP00000434586:M19695I;ENSP00000340554:M19887I;ENSP00000352154:M19820I	ENSP00000340554:M19887I	M	-	3	0	TTN	179132825	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	7.729000	0.84864	1.601000	0.50113	0.655000	0.94253	ATG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	191	6	191	---	---	---	---	A	179424579	C	A	179424579	3	1	130	1	0	0	0	0	1	0	0	0	16732	826	29	3	21847	3	TTN	2	179424579	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3747448	179424579	63774794	46	5950										
TTN	7273	broad.mit.edu	37	chr2	179449161	179449161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtatcattggctttcaccCacagcaaactgtttctttcc	6	12	3	0			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.chr2:179449161C>A	ENST00000591111.1	-	261	60418	c.60194G>T	c.(60193-60195)tGg>tTg	p.W20065L	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W21706L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20065	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)			GGCTTTCACCCACAGCAAACT	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.(65116-65118)tGg>tTg		titin							106	102	103					2																	179449161		1910	4136	6046	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449161C>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.60194G>T	2.37:g.179449161C>A	ENSP00000465570:p.Trp20065Leu		Somatic				TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20065L|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN-AS1_ENST00000592750.1_RNA	p.W21706L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	65341	-			20065			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.65117G>T		.	.	.	.	.	.	.	.	.	.	C	17.32	3.358815	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	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);	.	.	.	.	D	0.82398	0.5028	H	0.95224	3.64	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	D	0.86547	0.1832	9	0.87932	D	0	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	12641;12766;12833;20065	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19138;12641;12833;12766;12639	ENSP00000343764:W19138L;ENSP00000434586:W12641L;ENSP00000340554:W12833L;ENSP00000352154:W12766L	ENSP00000340554:W12833L	W	-	2	0	TTN	179157407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.831000	0.97527	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	97	5	97	---	---	---	---	A	179449161	C	A	179449161	3	1	130	1	0	0	0	0	1	0	0	0	16732	595	21	1	43070	1	TTN	2	179449161	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	24582	179449161	63750212	47	5951										
WDFY1	57590	broad.mit.edu	37	chr2	224746771	224746771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcccgcagacagcctgccCgcatttcctgcagtgatgct	9	16	0	2	rs144919121		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.chr2:224746771C>A	ENST00000233055.4	-	10	1054	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	318						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)		ACAGCCTGCCCGCATTTCCTG	0.512																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(952-954)Ggg>Tgg		WD repeat and FYVE domain containing 1							171	175	174					2																	224746771		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224746771C>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.952G>T	2.37:g.224746771C>A	ENSP00000233055:p.Gly318Trp		Somatic					p.G318W	NM_020830.3	NP_065881.1	WXS	Illumina GAIIx	Phase_I	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	1054	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	318					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.952G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872266	0.91587	.	.	ENSG00000085449	ENST00000233055	D	0.85629	-2.01	5.9	5.9	0.94986	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	0.95881	0.8659	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95617	0.8677	10	0.38643	T	0.18	-26.3478	20.2789	0.98501	0.0:1.0:0.0:0.0	.	318	Q8IWB7	WDFY1_HUMAN	W	318	ENSP00000233055:G318W	ENSP00000233055:G318W	G	-	1	0	WDFY1	224455015	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.484000	0.81180	2.788000	0.95919	0.650000	0.86243	GGG		0.512	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		6	286	6	286	---	---	---	---	A	224746771	C	A	224746771	3	1	130	1	0	0	0	0	1	0	0	0	17265	652	23	1	292	1	WDFY1	2	224746771	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	45297610	224746771	18452602	48	5952										
SGOL1	151648	broad.mit.edu	37	chr3	20219807	20219807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggagctgtcatcactattGgggtccattccagaggaaca	11	10	2	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.chr3:20219807G>T	ENST00000263753.4	-	4	511	c.372C>A	c.(370-372)ccC>ccA	p.P124P	SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000412997.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	124	Necessary for interaction with PPP2CA and PPP2R1A.				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						CATCACTATTGGGGTCCATTC	0.299																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(370-372)ccC>ccA		shugoshin-like 1 (S. pombe)							100	103	102					3																	20219807		2203	4299	6502	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.chr3:20219807G>T	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.372C>A	3.37:g.20219807G>T			Somatic				SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000263753.4_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P	p.P124P	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			4	723	-			124			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.372C>A	CCDS33716.1																																																																																				0.299	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		6	109	6	109	---	---	---	---	T	20219807	G	T	20219807	2	4	130	1	0	0	0	0	0	0	0	1	14216	1335	47	1		1	SGOL1	3	20219807	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08		20219807	177802623	49	5953										
DLEC1	9940	broad.mit.edu	37	chr3	38139373	38139373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaggagagcccagtctccCtccaggaaaggcctgaggat	13	11	1	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.chr3:38139373C>A	ENST00000308059.6	+	18	2725	c.2704C>A	c.(2704-2706)Ctc>Atc	p.L902I	DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I					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)		CCCAGTCTCCCTCCAGGAAAG	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.(2704-2706)Ctc>Atc		deleted in lung and esophageal cancer 1							51	56	54					3																	38139373		2136	4256	6392	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139373C>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.2704C>A	3.37:g.38139373C>A	ENSP00000308597:p.Leu902Ile		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I	p.L902I			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2725	+			902						Missense_Mutation	SNP	ENST00000308059.6	37	c.2704C>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947646	0.53186	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06218	3.35;3.33;3.57	5.16	5.16	0.70880	.	0.295265	0.24698	N	0.036323	T	0.21841	0.0526	M	0.72894	2.215	0.38503	D	0.948289	D;D;D;D	0.69078	0.997;0.978;0.994;0.996	P;P;P;P	0.61940	0.896;0.853;0.822;0.862	T	0.00992	-1.1488	9	.	.	.	-19.0378	16.1178	0.81321	0.0:1.0:0.0:0.0	.	902;902;902;902	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	I	902	ENSP00000308597:L902I;ENSP00000315914:L902I;ENSP00000410427:L902I	.	L	+	1	0	DLEC1	38114377	0.995000	0.38212	0.889000	0.34880	0.112000	0.19704	1.407000	0.34657	2.414000	0.81942	0.462000	0.41574	CTC		0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	51	5	51	---	---	---	---	A	38139373	C	A	38139373	3	1	130	1	0	0	0	0	1	0	0	0	4552	681	24	1	2774	1	DLEC1	3	38139373	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	17919566	38139373	159883057	50	5954										
CCDC36	339834	broad.mit.edu	37	chr3	49294496	49294496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggaggaacagtcatgccCaataagacagtaagggcagt	13	8	1	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.chr3:49294496C>A	ENST00000438782.1	+	8	1802	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	CCDC36_ENST00000452691.2_Silent_p.P522P|CCDC36_ENST00000296449.5_Silent_p.P522P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	522										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGTCATGCCCAATAAGACAG	0.582																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1564-1566)ccC>ccA		coiled-coil domain containing 36							82	87	85					3																	49294496		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49294496C>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1566C>A	3.37:g.49294496C>A			Somatic				CCDC36_ENST00000296449.5_Silent_p.P522P|CCDC36_ENST00000452691.2_Silent_p.P522P	p.P522P			WXS	Illumina GAIIx	Phase_I	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1802	+			522					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.1566C>A	CCDS33755.2																																																																																				0.582	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		6	148	6	148	---	---	---	---	A	49294496	C	A	49294496	2	1	130	1	0	0	0	0	0	0	0	1	2808	581	21	1		1	CCDC36	3	49294496	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	11155123	49294496	148727934	51	5955										
PBRM1	55193	broad.mit.edu	37	chr3	52598192	52598192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagcagaatgtcattttctGgtatttcagttggcctgcag	10	7	3	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.chr3:52598192G>T	ENST00000296302.7	-	23	3750	c.3749C>A	c.(3748-3750)cCa>cAa	p.P1250Q	PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.P1218Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q			Q86U86	PB1_HUMAN	polybromo 1	1250	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)		GTCATTTTCTGGTATTTCAGT	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.(3652-3654)cCa>cAa		polybromo 1							97	96	96					3																	52598192		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.chr3:52598192G>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.3749C>A	3.37:g.52598192G>T	ENSP00000296302:p.Pro1250Gln		Somatic				PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1250Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q	p.P1218Q			WXS	Illumina GAIIx	Phase_I	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)	22	3655	-			1250			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3653C>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.171443	0.78452	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.36878	1.38;1.23;1.42;1.38;1.39;1.24;1.85;1.38;1.39	5.43	5.43	0.79202	Bromo adjacent homology (BAH) domain (3);	0.236008	0.43416	D	0.000573	T	0.48040	0.1478	L	0.54323	1.7	0.38649	D	0.951802	P;P;P;B;P;P;P;P	0.44006	0.789;0.741;0.631;0.126;0.507;0.824;0.631;0.741	P;B;B;B;P;P;B;B	0.49421	0.61;0.377;0.259;0.191;0.447;0.588;0.259;0.377	T	0.47484	-0.9114	10	0.46703	T	0.11	-0.7183	19.2735	0.94021	0.0:0.0:1.0:0.0	.	1225;1225;1250;1265;1265;1250;1218;1250	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	Q	1218;1225;1250;1250;1250;1225;1265;1265;1249	ENSP00000349213:P1218Q;ENSP00000378307:P1225Q;ENSP00000296302:P1250Q;ENSP00000338302:P1250Q;ENSP00000386593:P1250Q;ENSP00000386529:P1225Q;ENSP00000386643:P1265Q;ENSP00000386601:P1265Q;ENSP00000387775:P1249Q	ENSP00000296302:P1250Q	P	-	2	0	PBRM1	52573232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	2.549000	0.85964	0.655000	0.94253	CCA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	98	5	98	---	---	---	---	T	52598192	G	T	52598192	3	4	130	1	0	0	0	0	1	0	0	0	11491	1348	47	1	1183	1	PBRM1	3	52598192	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3303696	52598192	145424238	52	5956										
MAGI1	9223	broad.mit.edu	37	chr3	65342651	65342651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgctgcctttcggatccCttgcgtgtgcccgcttttcc	9	16	1	0			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.chr3:65342651C>A	ENST00000402939.2	-	23	3790	c.3791G>T	c.(3790-3792)aGg>aTg	p.R1264M	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					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)		TTTCGGATCCCTTGCGTGTGC	0.592																																						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.(3790-3792)aGg>aTg		membrane associated guanylate kinase, WW and PDZ domain containing 1							153	143	147					3																	65342651		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.chr3:65342651C>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.3791G>T	3.37:g.65342651C>A	ENSP00000385450:p.Arg1264Met		Somatic				MAGI1_ENST00000330909.8_3'UTR	p.R1264M	NM_001033057.1	NP_001028229.1	WXS	Illumina GAIIx	Phase_I	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3790	-		Lung NSC(201;0.0016)	1293					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3791G>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426610	0.43020	.	.	ENSG00000151276	ENST00000402939	T	0.14516	2.5	4.6	-4.37	0.03633	.	0.602490	0.16824	N	0.198027	T	0.09202	0.0227	N	0.24115	0.695	0.80722	D	1	P	0.45827	0.867	P	0.44946	0.465	T	0.08953	-1.0697	10	0.52906	T	0.07	-2.6488	8.9972	0.36059	0.0:0.2196:0.1093:0.6711	.	1264	Q96QZ7-2	.	M	1264	ENSP00000385450:R1264M	ENSP00000385450:R1264M	R	-	2	0	MAGI1	65317691	0.873000	0.30073	0.346000	0.25655	0.710000	0.40934	0.228000	0.17814	-1.175000	0.02751	-0.339000	0.08088	AGG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		6	131	6	131	---	---	---	---	A	65342651	C	A	65342651	3	1	130	1	0	0	0	0	1	0	0	0	9190	681	24	1	601	1	MAGI1	3	65342651	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	12744459	65342651	132679779	53	5957										
SLC15A2	6565	broad.mit.edu	37	chr3	121641932	121641932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactgaccagggtactattcCtttatatcccattgcccatg	6	13	0	1	rs367630543		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.chr3:121641932C>A	ENST00000489711.1	+	10	1301	c.913C>A	c.(913-915)Ctt>Att	p.L305I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	305					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)	p.L305I(1)		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)	GGTACTATTCCTTTATATCCC	0.458																																						ENST00000489711.1																			1	Substitution - Missense(1)	p.L305I(1)	lung(1)	NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(913-915)Ctt>Att		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						171	176	174					3																	121641932		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641932C>A	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.913C>A	3.37:g.121641932C>A	ENSP00000417085:p.Leu305Ile		Somatic				SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I	p.L305I	NM_021082.3	NP_066568.3	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	10	1301	+			305					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.913C>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373029	0.95923	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.60299	0.2;0.2	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;0.975	D;D	0.97110	1.0;0.951	T	0.71024	-0.4712	10	0.56958	D	0.05	-14.4284	17.6924	0.88272	0.0:1.0:0.0:0.0	.	274;305	B4E2A7;Q16348	.;S15A2_HUMAN	I	305;267;274	ENSP00000417085:L305I;ENSP00000295605:L274I	ENSP00000295605:L274I	L	+	1	0	SLC15A2	123124622	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.278000	0.78587	2.781000	0.95711	0.650000	0.86243	CTT		0.458	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		7	215	7	215	---	---	---	---	A	121641932	C	A	121641932	3	1	130	1	0	0	0	0	1	0	0	0	14399	681	24	1	951	1	SLC15A2	3	121641932	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	56299281	121641932	76380498	54	5958										
ZNF148	7707	broad.mit.edu	37	chr3	124951822	124951822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgatccaacattctctgacGgggtgacctctggtacttct	9	11	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.chr3:124951822G>T	ENST00000360647.4	-	9	2233	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	583					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						ATTCTCTGACGGGGTGACCTC	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.(1747-1749)cCg>cAg		zinc finger protein 148							105	100	102					3																	124951822		2203	4299	6502	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.chr3:124951822G>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.1748C>A	3.37:g.124951822G>T	ENSP00000353863:p.Pro583Gln		Somatic				SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron	p.P583Q	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			9	2233	-			583					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1748C>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.624605	0.00117	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.67	0.689	0.18033	.	0.245040	0.42172	N	0.000756	T	0.17195	0.0413	N	0.04355	-0.22	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	10	0.02654	T	1	-0.8261	13.7778	0.63064	0.0:0.0:0.5102:0.4898	.	583	Q9UQR1	ZN148_HUMAN	Q	583	ENSP00000353863:P583Q;ENSP00000420335:P583Q;ENSP00000419322:P583Q;ENSP00000420448:P583Q	ENSP00000353863:P583Q	P	-	2	0	ZNF148	126434512	0.996000	0.38824	0.681000	0.30009	0.952000	0.60782	2.156000	0.42310	-0.020000	0.14032	-0.266000	0.10368	CCG		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		6	126	6	126	---	---	---	---	T	124951822	G	T	124951822	3	4	130	1	0	0	0	0	1	0	0	0	17731	1116	39	1	640	1	ZNF148	3	124951822	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3309890	124951822	73070608	55	5959										
ZIC4	84107	broad.mit.edu	37	chr3	147108857	147108857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgggcggcggcgagcgccCgtgcaccttcatgtgcttac	15	14	1	0			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.chr3:147108857C>A	ENST00000383075.3	-	4	1377	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G289W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGAGCGCCCGTGCACCTTC	0.662																																						ENST00000383075.3																			1	Substitution - Missense(1)	p.G289W(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.(865-867)Ggg>Tgg		Zic family member 4							32	40	38					3																	147108857		2193	4293	6486	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108857C>A	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.865G>T	3.37:g.147108857C>A	ENSP00000372553:p.Gly289Trp		Somatic				ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W	p.G289W	NM_032153.5	NP_115529.2	WXS	Illumina GAIIx	Phase_I	Q8N9L1	ZIC4_HUMAN			4	1377	-			289					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.865G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156573	0.78114	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.35789	2.44;2.44;2.44;2.44;2.44;1.29	5.05	4.08	0.47627	Zinc finger, C2H2 (1);	0.171210	0.28659	N	0.014572	T	0.47764	0.1463	L	0.47716	1.5	0.39814	D	0.972741	D;D	0.71674	0.998;0.998	D;D	0.64506	0.925;0.926	T	0.60454	-0.7260	9	0.66056	D	0.02	.	10.3599	0.43987	0.4522:0.5478:0.0:0.0	.	339;289	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	W	289;327;339;289;289;83	ENSP00000372553:G289W;ENSP00000397695:G327W;ENSP00000435509:G339W;ENSP00000417855:G289W;ENSP00000420775:G289W;ENSP00000418277:G83W	ENSP00000372553:G289W	G	-	1	0	ZIC4	148591547	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.495000	0.60353	2.337000	0.79520	0.462000	0.41574	GGG		0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	72	4	72	---	---	---	---	A	147108857	C	A	147108857	3	1	130	1	0	0	0	0	1	0	0	0	17678	652	23	1	147	1	ZIC4	3	147108857	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	22157035	147108857	50913573	56	5960										
MRPL47	57129	broad.mit.edu	37	chr3	179311582	179311582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttccaaagatgtctcttctCcaagcaccaggtctagctct	6	14	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.chr3:179311582C>A	ENST00000476781.1	-	5	533	c.504G>T	c.(502-504)tgG>tgT	p.W168C	MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	168					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)			TGTCTCTTCTCCAAGCACCAG	0.438																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(502-504)tgG>tgT		mitochondrial ribosomal protein L47							140	142	142					3																	179311582		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179311582C>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.504G>T	3.37:g.179311582C>A	ENSP00000417602:p.Trp168Cys		Somatic				MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	p.W168C	NM_020409.2	NP_065142.2	WXS	Illumina GAIIx	Phase_I	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		5	533	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		168					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.504G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964114	0.74131	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46063	1.45;1.5;0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67650	-0.5616	10	0.62326	D	0.03	-12.2478	20.3812	0.98933	0.0:1.0:0.0:0.0	.	148;168	Q9HD33-2;Q9HD33	.;RM47_HUMAN	C	168;148;58	ENSP00000417602:W168C;ENSP00000259038:W148C;ENSP00000376427:W58C	ENSP00000259038:W148C	W	-	3	0	MRPL47	180794276	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.093000	0.71422	2.821000	0.97095	0.650000	0.86243	TGG		0.438	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		6	169	6	169	---	---	---	---	A	179311582	C	A	179311582	3	1	130	1	0	0	0	0	1	0	0	0	9811	856	30	3	260	3	MRPL47	3	179311582	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	32202725	179311582	18710848	57	5961										
LNX1	84708	broad.mit.edu	37	chr4	54362300	54362300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtcgatatgccacaccgcCatccagcacattgaagatga	8	12	0	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.chr4:54362300C>A	ENST00000263925.7	-	6	1554	c.1240G>T	c.(1240-1242)Ggc>Tgc	p.G414C	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.G318C	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	414	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			GCCACACCGCCATCCAGCACA	0.502																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(952-954)Ggc>Tgc		ligand of numb-protein X 1, E3 ubiquitin protein ligase							161	137	145					4																	54362300		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54362300C>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.1240G>T	4.37:g.54362300C>A	ENSP00000263925:p.Gly414Cys		Somatic				LNX1_ENST00000263925.7_Missense_Mutation_p.G414C|FIP1L1_ENST00000507166.1_Intron	p.G318C	NM_032622.2	NP_116011.2	WXS	Illumina GAIIx	Phase_I	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1203	-	all_neural(26;0.153)		414			PDZ 1.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.952G>T	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298866	0.60195	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.43294	0.95;0.95	5.09	5.09	0.68999	PDZ/DHR/GLGF (4);	0.047477	0.85682	D	0.000000	T	0.78767	0.4335	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	0.86994	0.2112	10	0.87932	D	0	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	414;318	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	C	318;252;414	ENSP00000302879:G318C;ENSP00000263925:G414C	ENSP00000263925:G414C	G	-	1	0	LNX1	54057057	1.000000	0.71417	0.134000	0.22075	0.211000	0.24417	5.620000	0.67736	2.651000	0.90000	0.491000	0.48974	GGC		0.502	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			6	182	6	182	---	---	---	---	A	54362300	C	A	54362300	3	1	130	1	0	0	0	0	1	0	0	0	8865	594	21	1	970	1	LNX1	4	54362300	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		54362300	136791976	58	5962										
C4orf14	84273	broad.mit.edu	37	chr4	57829644	57829644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatctttcctttcttcttcCtcacgttgtacataagggaa	5	10	4	0			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.chr4:57829644C>A	ENST00000264230.4	-	7	3306	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	690					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)										TTTCTTCTTCCTCACGTTGTA	0.373																																						ENST00000264230.4																			0											c.(2068-2070)aGg>aTg		nitric oxide associated 1							168	165	166					4																	57829644		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829644C>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.2069G>T	4.37:g.57829644C>A	ENSP00000264230:p.Arg690Met		Somatic					p.R690M	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			7	3306	-			690					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.2069G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259820	0.23051	.	.	ENSG00000084092	ENST00000264230	T	0.35236	1.32	5.41	-6.45	0.01914	.	0.868445	0.10122	N	0.713297	T	0.25938	0.0632	L	0.34521	1.04	0.09310	N	0.999999	P	0.38642	0.641	B	0.38500	0.275	T	0.32188	-0.9916	10	0.87932	D	0	.	12.7585	0.57350	0.0:0.4484:0.0:0.5516	.	690	Q8NC60	CD014_HUMAN	M	690	ENSP00000264230:R690M	ENSP00000264230:R690M	R	-	2	0	C4orf14	57524401	0.010000	0.17322	0.035000	0.18076	0.024000	0.10985	-0.189000	0.09629	-1.136000	0.02892	-1.202000	0.01658	AGG		0.373	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	207	7	207	---	---	---	---	A	57829644	C	A	57829644	3	1	130	1	0	0	0	0	1	0	0	0	2251	681	24	1	31	1	C4orf14	4	57829644	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3467344	57829644	133324632	59	5963										
HELQ	113510	broad.mit.edu	37	chr4	84374734	84374734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagaggatgacttccaatccCtttctttcatagaatgatca	7	9	3	4	rs188988182		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.chr4:84374734C>A	ENST00000295488.3	-	2	824	c.662G>T	c.(661-663)aGg>aTg	p.R221M	MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.R221M|MRPS18C_ENST00000295491.4_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	221					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						CTTCCAATCCCTTTCTTTCAT	0.408								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.(661-663)aGg>aTg	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							115	118	117					4																	84374734		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84374734C>A	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.662G>T	4.37:g.84374734C>A	ENSP00000295488:p.Arg221Met		Somatic				HELQ_ENST00000510985.1_Missense_Mutation_p.R221M	p.R221M	NM_133636.2	NP_598375	WXS	Illumina GAIIx	Phase_I	Q8TDG4	HELQ_HUMAN			2	824	-			221					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.662G>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807192	0.31961	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.68025	0.16;-0.3	5.61	-1.42	0.08913	.	0.698160	0.13897	N	0.355220	T	0.56949	0.2020	L	0.40543	1.245	0.09310	N	1	B;P;B;B	0.51653	0.049;0.947;0.4;0.022	B;P;B;B	0.49999	0.01;0.628;0.121;0.01	T	0.49934	-0.8886	10	0.45353	T	0.12	-45.4395	3.1962	0.06634	0.1009:0.4393:0.0984:0.3613	.	221;221;184;221	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	M	221	ENSP00000295488:R221M;ENSP00000424539:R221M	ENSP00000295488:R221M	R	-	2	0	HELQ	84593758	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.865000	0.04250	-0.422000	0.07405	-0.136000	0.14681	AGG		0.408	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		5	99	5	99	---	---	---	---	A	84374734	C	A	84374734	3	1	130	1	0	0	0	0	1	0	0	0	7047	681	24	1	2711	1	HELQ	4	84374734	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	26545090	84374734	106779542	60	5964										
TBCK	93627	broad.mit.edu	37	chr4	107229970	107229970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atactggcagagtctgggatGggtgatggttttaaggattt	15	3	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.chr4:107229970G>T	ENST00000273980.5	-	3	595	c.148C>A	c.(148-150)Cat>Aat	p.H50N	TBCK_ENST00000432496.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N					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						AGTCTGGGATGGGTGATGGTT	0.398																																						ENST00000273980.5																			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.(148-150)Cat>Aat		TBC1 domain containing kinase							142	150	147					4																	107229970		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107229970G>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.148C>A	4.37:g.107229970G>T	ENSP00000273980:p.His50Asn		Somatic				TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000432496.2_Missense_Mutation_p.H50N	p.H50N			WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			3	595	-						Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.148C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355558	0.82243	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;2.04;-1.18;-1.18;-1.18;-1.18;2.9	5.39	5.39	0.77823	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	0.87970	0.6312	M	0.70903	2.155	0.80722	D	1	D;D;B	0.76494	0.965;0.999;0.281	D;D;B	0.87578	0.919;0.998;0.227	D	0.88473	0.3063	10	0.62326	D	0.03	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	50;50;50	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	N	50	ENSP00000273980:H50N;ENSP00000405847:H50N;ENSP00000355338:H50N;ENSP00000378196:H50N;ENSP00000378198:H50N;ENSP00000420985:H50N;ENSP00000425197:H50N;ENSP00000423637:H50N	ENSP00000273980:H50N	H	-	1	0	TBCK	107449419	1.000000	0.71417	0.826000	0.32828	0.938000	0.57974	9.869000	0.99810	2.549000	0.85964	0.591000	0.81541	CAT		0.398	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		6	115	6	115	---	---	---	---	T	107229970	G	T	107229970	3	4	130	1	0	0	0	0	1	0	0	0	15633	1348	47	1	2633	1	TBCK	4	107229970	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	22855236	107229970	83924306	61	5965										
FAT4	79633	broad.mit.edu	37	chr4	126237601	126237601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacagggctactggccgccCgtggctcccgttgcacactc	12	16	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.chr4:126237601C>A	ENST00000394329.3	+	1	48	c.35C>A	c.(34-36)cCg>cAg	p.P12Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	12					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						ACTGGCCGCCCGTGGCTCCCG	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(34-36)cCg>cAg		FAT atypical cadherin 4							111	118	116					4																	126237601		1917	4132	6049	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126237601C>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.35C>A	4.37:g.126237601C>A	ENSP00000377862:p.Pro12Gln		Somatic	OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.P12Q	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	48	+			12					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.35C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675031	0.14841	.	.	ENSG00000196159	ENST00000394329	T	0.72835	-0.69	4.75	-0.574	0.11738	.	.	.	.	.	T	0.47266	0.1436	N	0.22421	0.69	0.09310	N	0.999998	B	0.20671	0.047	B	0.12837	0.008	T	0.22836	-1.0205	9	0.14656	T	0.56	.	3.7206	0.08454	0.1096:0.3593:0.3685:0.1626	.	12	Q6V0I7	FAT4_HUMAN	Q	12	ENSP00000377862:P12Q	ENSP00000377862:P12Q	P	+	2	0	FAT4	126457051	0.060000	0.20803	0.711000	0.30485	0.402000	0.30811	0.186000	0.16978	-0.043000	0.13513	-0.259000	0.10710	CCG		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	222	5	222	---	---	---	---	A	126237601	C	A	126237601	3	1	130	1	0	0	0	0	1	0	0	0	5692	652	23	1	37	1	FAT4	4	126237601	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	19007631	126237601	64916675	62	5966										
INTU	27152	broad.mit.edu	37	chr4	128635247	128635247	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatggcttactgggtagtaGggtaagtgagaaaaaaaagt	13	2	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.chr4:128635247G>T	ENST00000335251.6	+	15	2819	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	906					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						CTGGGTAGTAGGGTAAGTGAG	0.338																																						ENST00000335251.6																			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.(2716-2718)Ggg>Tgg		inturned planar cell polarity protein							90	88	88					4																	128635247		2203	4300	6503	SO:0001630	splice_region_variant	27152							g.chr4:128635247G>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.2717+1G>T	4.37:g.128635247G>T			Somatic					p.G906W	NM_015693.3	NP_056508.2	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			15	2819	+								A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Splice_Site	SNP	ENST00000335251.6	37	c.2716G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253471	0.80135	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84783	0.0774	9	0.87932	D	0	-8.8681	16.755	0.85497	0.0:0.0:1.0:0.0	.	906	Q9ULD6	PDZD6_HUMAN	W	906	.	ENSP00000334003:G906W	G	+	1	0	INTU	128854697	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.779000	0.91792	2.156000	0.67533	0.650000	0.86243	GGG		0.338	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Missense_Mutation	5	62	5	62	---	---	---	---	T	128635247	G	T	128635247	5	4	130	1	0	0	0	0	0	0	1	0	7786	1014	35	1	2774	1	INTU	4	128635247	Splice_Site	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2397646	128635247	62519029	63	5967										
PHF17	79960	broad.mit.edu	37	chr4	129778549	129778549	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaaggtgtcacacattccCagcagccggtgggcgctagt	12	13	1	0			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.chr4:129778549C>A	ENST00000226319.6	+	8	1201	c.921C>A	c.(919-921)ccC>ccA	p.P307P	PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000413543.2_Silent_p.P307P	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						CACACATTCCCAGCAGCCGGT	0.522																																						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.(919-921)ccC>ccA									149	154	152					4																	129778549		2203	4300	6503	SO:0001819	synonymous_variant	79960				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.chr4:129778549C>A																												ENST00000226319.6:c.921C>A	4.37:g.129778549C>A			Somatic				PHF17_ENST00000413543.2_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P	p.P307P	NM_199320.2	NP_955352.1	WXS	Illumina GAIIx	Phase_I	Q6IE81	JADE1_HUMAN			8	1201	+			307						Silent	SNP	ENST00000226319.6	37	c.921C>A	CCDS34062.1																																																																																				0.522	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	262	8	262	---	---	---	---	A	129778549	C	A	129778549	2	1	130	1	0	0	0	0	0	0	0	1	11828	581	21	1		1	PHF17	4	129778549	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1143302	129778549	61375727	64	5968										
SCLT1	132320	broad.mit.edu	37	chr4	129809839	129809839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggatgctccctacctgctGggaagctgaagcagctctct	12	12	1	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.chr4:129809839G>T	ENST00000281142.5	-	20	2502	c.1999C>A	c.(1999-2001)Cag>Aag	p.Q667K	SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	667					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						CCTACCTGCTGGGAAGCTGAA	0.383																																						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.(1999-2001)Cag>Aag		sodium channel and clathrin linker 1							132	122	125					4																	129809839		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129809839G>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.1999C>A	4.37:g.129809839G>T	ENSP00000281142:p.Gln667Lys		Somatic				SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K	p.Q667K	NM_144643.2	NP_653244.2	WXS	Illumina GAIIx	Phase_I	Q96NL6	SCLT1_HUMAN			20	2502	-			667					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1999C>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	8.114	0.779385	0.16120	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.49720	0.77;3.01;3.01	4.95	4.95	0.65309	.	0.124595	0.56097	D	0.000036	T	0.36936	0.0985	N	0.17082	0.46	0.23585	N	0.997359	P;P;P;B	0.40731	0.728;0.728;0.728;0.341	B;B;B;B	0.43445	0.346;0.346;0.42;0.167	T	0.23440	-1.0188	9	.	.	.	-2.5969	15.2488	0.73526	0.0:0.0:1.0:0.0	.	154;286;667;263	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	K	667;286;154;263	ENSP00000281142:Q667K;ENSP00000401539:Q286K;ENSP00000424029:Q263K	.	Q	-	1	0	SCLT1	130029289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.134000	0.64770	2.560000	0.86352	0.650000	0.86243	CAG		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		6	108	6	108	---	---	---	---	T	129809839	G	T	129809839	3	4	130	1	0	0	0	0	1	0	0	0	13906	1357	47	1	75	1	SCLT1	4	129809839	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	31290	129809839	61344437	65	5969										
WDR17	116966	broad.mit.edu	37	chr4	177069298	177069298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcagtaccgttcgaatctGggattatactcaggatgctt	9	8	3	0			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.chr4:177069298G>T	ENST00000280190.4	+	14	1937	c.1781G>T	c.(1780-1782)tGg>tTg	p.W594L	WDR17_ENST00000393643.2_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000508596.1_Missense_Mutation_p.W570L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	594										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)		GTTCGAATCTGGGATTATACT	0.328																																						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.(1708-1710)tGg>tTg		WD repeat domain 17							155	152	153					4																	177069298		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069298G>T	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.1781G>T	4.37:g.177069298G>T	ENSP00000280190:p.Trp594Leu		Somatic				WDR17_ENST00000508596.1_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000280190.4_Missense_Mutation_p.W594L	p.W570L	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	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	1961	+		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)	594					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1709G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915960	0.92178	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	D;D;D	0.83506	-1.73;-1.73;-1.73	5.77	5.77	0.91146	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	0.94331	0.8178	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	D	0.95328	0.8427	10	0.87932	D	0	-8.4954	19.9915	0.97366	0.0:0.0:1.0:0.0	.	570;594	E7EQX0;Q8IZU2	.;WDR17_HUMAN	L	570;570;594;577	ENSP00000422763:W570L;ENSP00000377258:W570L;ENSP00000280190:W594L	ENSP00000280190:W594L	W	+	2	0	WDR17	177306292	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGG		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			5	126	5	126	---	---	---	---	T	177069298	G	T	177069298	3	4	130	1	0	0	0	0	1	0	0	0	17274	1357	47	1	1831	1	WDR17	4	177069298	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	47259459	177069298	14084978	66	5970										
NEIL3	55247	broad.mit.edu	37	chr4	178257465	178257465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgacagtggtctccaccCagctgttaaagtaagtttta	8	9	1	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.chr4:178257465C>A	ENST00000264596.3	+	4	735	c.617C>A	c.(616-618)cCa>cAa	p.P206Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	206					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGTCTCCACCCAGCTGTTAAA	0.403								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(616-618)cCa>cAa	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							98	101	100					4																	178257465		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178257465C>A	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.617C>A	4.37:g.178257465C>A	ENSP00000264596:p.Pro206Gln		Somatic					p.P206Q	NM_018248.2	NP_060718	WXS	Illumina GAIIx	Phase_I	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	4	735	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	206					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.617C>A	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914857	0.72983	.	.	ENSG00000109674	ENST00000264596	T	0.55760	0.5	4.93	4.93	0.64822	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88810	0.3291	10	0.87932	D	0	-13.6966	17.6857	0.88255	0.0:1.0:0.0:0.0	.	206	Q8TAT5	NEIL3_HUMAN	Q	206	ENSP00000264596:P206Q	ENSP00000264596:P206Q	P	+	2	0	NEIL3	178494459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.088000	0.76901	2.713000	0.92767	0.655000	0.94253	CCA		0.403	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		5	89	5	89	---	---	---	---	A	178257465	C	A	178257465	3	1	130	1	0	0	0	0	1	0	0	0	10320	594	21	1	631	1	NEIL3	4	178257465	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1188167	178257465	12896811	67	5971										
ODZ3	55714	broad.mit.edu	37	chr4	183522162	183522162	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcacagcatcatccatcCatcacttctctcaacagaaa	3	15	5	1	rs575697874		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.chr4:183522162C>A	ENST00000511685.1	+	4	720	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TENM3_ENST00000406950.2_Silent_p.S199S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	199	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				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)										ATCATCCATCCATCACTTCTC	0.552																																						ENST00000511685.1																			0											c.(595-597)tcC>tcA		teneurin transmembrane protein 3							139	149	146					4																	183522162		2010	4185	6195	SO:0001819	synonymous_variant	55714							g.chr4:183522162C>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.597C>A	4.37:g.183522162C>A			Somatic				TENM3_ENST00000406950.2_Silent_p.S199S	p.S199S			WXS	Illumina GAIIx	Phase_I					4	720	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.597C>A	CCDS47165.1																																																																																				0.552	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			7	235	7	235	---	---	---	---	A	183522162	C	A	183522162	2	1	130	1	0	0	0	0	0	0	0	1	10836	581	21	1		1	ODZ3	4	183522162	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5264697	183522162	7632114	68	5972										
ODZ3	55714	broad.mit.edu	37	chr4	183714859	183714859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatggtggcctgtatgaccCactcaccaaattaatccact	6	13	2	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.chr4:183714859C>A	ENST00000511685.1	+	26	7157	c.7034C>A	c.(7033-7035)cCa>cAa	p.P2345Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2345					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)										CTGTATGACCCACTCACCAAA	0.398																																						ENST00000511685.1																			0											c.(7033-7035)cCa>cAa		teneurin transmembrane protein 3							120	119	120					4																	183714859		1863	4089	5952	SO:0001583	missense	55714							g.chr4:183714859C>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.7034C>A	4.37:g.183714859C>A	ENSP00000424226:p.Pro2345Gln		Somatic				TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q	p.P2345Q			WXS	Illumina GAIIx	Phase_I					26	7157	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7034C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155665	0.78114	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86865	-2.18;-2.18	5.17	5.17	0.71159	Rhs repeat-associated core (1);	.	.	.	.	D	0.91805	0.7407	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90336	0.4355	9	0.36615	T	0.2	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	2345	Q9P273	TEN3_HUMAN	Q	2345	ENSP00000424226:P2345Q;ENSP00000385276:P2345Q	ENSP00000385276:P2345Q	P	+	2	0	ODZ3	183951853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.625000	0.83145	2.683000	0.91414	0.655000	0.94253	CCA		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	102	6	102	---	---	---	---	A	183714859	C	A	183714859	3	1	130	1	0	0	0	0	1	0	0	0	10836	594	21	1	7132	1	ODZ3	4	183714859	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	192697	183714859	7439417	69	5973										
CDH6	1004	broad.mit.edu	37	chr5	31323130	31323130	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggacattgtgcccgaagcCcttttcctaccccgacggac	10	15	0	0			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			Somatic					p.A696A	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	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	9	60	---	---	---	---	A	31323130	C	A	31323130	2	1	130	1	0	0	0	0	0	0	0	1	3114	610	22	1		1	CDH6	5	31323130	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		31323130	149592130	70	5974										
PDZD2	23037	broad.mit.edu	37	chr5	31983622	31983622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaaggaggtggctggacccCatctagagaggtcagaagtg	15	8	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.chr5:31983622C>A	ENST00000438447.1	+	3	1226	c.838C>A	c.(838-840)Cat>Aat	p.H280N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N			O15018	PDZD2_HUMAN	PDZ domain containing 2	280					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						GGCTGGACCCCATCTAGAGAG	0.522																																						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.(838-840)Cat>Aat		PDZ domain containing 2							71	76	74					5																	31983622		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983622C>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.838C>A	5.37:g.31983622C>A	ENSP00000402033:p.His280Asn		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N	p.H280N			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			3	1226	+			280					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.838C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373620	0.42105	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06933	3.24;3.24	5.78	3.86	0.44501	.	0.445026	0.19250	N	0.118942	T	0.06508	0.0167	L	0.27053	0.805	0.20563	N	0.999887	B;B	0.12630	0.001;0.006	B;B	0.11329	0.001;0.006	T	0.32981	-0.9886	10	0.26408	T	0.33	.	10.6804	0.45811	0.3483:0.6517:0.0:0.0	.	106;280	B4E3P2;O15018	.;PDZD2_HUMAN	N	280	ENSP00000402033:H280N;ENSP00000282493:H280N	ENSP00000282493:H280N	H	+	1	0	PDZD2	32019379	0.364000	0.24997	0.587000	0.28692	0.978000	0.69477	1.967000	0.40491	1.403000	0.46800	0.650000	0.86243	CAT		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	125	5	125	---	---	---	---	A	31983622	C	A	31983622	3	1	130	1	0	0	0	0	1	0	0	0	11701	594	21	1	844	1	PDZD2	5	31983622	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	660492	31983622	148931638	71	5975										
HMGCS1	3157	broad.mit.edu	37	chr5	43294964	43294964	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcttctaatttaacatccCtgaaagatttattttacagt	4	7	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.chr5:43294964C>A	ENST00000325110.6	-	7	1112		c.e7-1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						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						TTTAACATCCCTGAAAGATTT	0.323																																						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.e7-1		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							111	109	110					5																	43294964		2203	4299	6502	SO:0001630	splice_region_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43294964C>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.906-1G>T	5.37:g.43294964C>A			Somatic				HMGCS1_ENST00000433297.2_Splice_Site		NM_001098272.2	NP_001091742.1	WXS	Illumina GAIIx	Phase_I	Q01581	HMCS1_HUMAN			7	1112	-								B2RDL8	Splice_Site	SNP	ENST00000325110.6	37		CCDS34154.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019748	0.75275	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.973	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS1	43330721	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.725000	0.93324	0.460000	0.39030	.		0.323	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1		Intron	7	87	7	87	---	---	---	---	A	43294964	C	A	43294964	5	1	130	1	0	0	0	0	0	0	1	0	7232	695	24	1	677	1	HMGCS1	5	43294964	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	11311342	43294964	137620296	72	5976										
POC5	134359	broad.mit.edu	37	chr5	74970301	74970301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaacacttgtgagagactGggtgtgagctgatctggttc	14	6	1	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.chr5:74970301G>T	ENST00000428202.2	-	12	1876	c.1687C>A	c.(1687-1689)Cag>Aag	p.Q563K	POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	563					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						GTGAGAGACTGGGTGTGAGCT	0.443																																						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.(1687-1689)Cag>Aag		POC5 centriolar protein							228	224	225					5																	74970301		1903	4133	6036	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74970301G>T	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.1687C>A	5.37:g.74970301G>T	ENSP00000410216:p.Gln563Lys		Somatic				POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K	p.Q563K	NM_001099271.1	NP_001092741.1	WXS	Illumina GAIIx	Phase_I	Q8NA72	POC5_HUMAN			12	1876	-			563					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1687C>A	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690211	0.48097	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.53423	1.87;1.46;0.62;0.62;1.86	5.68	5.68	0.88126	.	0.951788	0.08909	N	0.876125	T	0.56731	0.2005	M	0.74258	2.255	0.31064	N	0.713828	P;P;P	0.38504	0.634;0.493;0.493	B;B;B	0.36845	0.234;0.157;0.157	T	0.62886	-0.6759	10	0.51188	T	0.08	-0.8884	20.1553	0.98111	0.0:0.0:1.0:0.0	.	387;563;538	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	K	563;535;387;387;538	ENSP00000410216:Q563K;ENSP00000420971:Q535K;ENSP00000369842:Q387K;ENSP00000426796:Q387K;ENSP00000399481:Q538K	ENSP00000369842:Q387K	Q	-	1	0	POC5	75006057	0.999000	0.42202	0.613000	0.29037	0.097000	0.18754	4.251000	0.58778	2.838000	0.97847	0.591000	0.81541	CAG		0.443	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		6	243	6	243	---	---	---	---	T	74970301	G	T	74970301	3	4	130	1	0	0	0	0	1	0	0	0	12177	1357	47	1	44	1	POC5	5	74970301	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	31675337	74970301	105944959	73	5977										
FBXL17	64839	broad.mit.edu	37	chr5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtcatgctgtatcgcccaAtggctatcagtgctgcaaga	10	10	2	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.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_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		Somatic				FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	p.I612T	NM_001163315.2	NP_001156787.2	WXS	Illumina GAIIx	Phase_I	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	24	103	---	---	---	---	G	107216868	A	G	107216868	3	3	130	1	0	0	0	0	1	0	0	0	5713	101	4	2	278	2	FBXL17	5	107216868	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	32246567	107216868	73698392	74	5978										
DMXL1	1657	broad.mit.edu	37	chr5	118483101	118483101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgactctgttttcagaaatGgtttatagccaagaattgca	8	6	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.chr5:118483101G>T	ENST00000311085.8	+	17	2927	c.2847G>T	c.(2845-2847)atG>atT	p.M949I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	949										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)		TTTCAGAAATGGTTTATAGCC	0.363																																						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.(2845-2847)atG>atT		Dmx-like 1							60	64	62					5																	118483101		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118483101G>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.2847G>T	5.37:g.118483101G>T	ENSP00000309690:p.Met949Ile		Somatic				DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	p.M949I	NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	17	2927	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	949						Missense_Mutation	SNP	ENST00000311085.8	37	c.2847G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559560	0.27827	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.29397	1.57;1.57	5.82	5.82	0.92795	.	0.190010	0.64402	D	0.000003	T	0.25158	0.0611	L	0.36672	1.1	0.37580	D	0.919772	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08638	-1.0712	10	0.25751	T	0.34	-6.7308	13.5307	0.61621	0.0:0.0:0.7277:0.2723	.	949;949	F5H269;Q9Y485	.;DMXL1_HUMAN	I	949	ENSP00000309690:M949I;ENSP00000439479:M949I	ENSP00000309690:M949I	M	+	3	0	DMXL1	118511000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.719000	0.47244	2.743000	0.94032	0.591000	0.81541	ATG		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	62	5	62	---	---	---	---	T	118483101	G	T	118483101	3	4	130	1	0	0	0	0	1	0	0	0	4594	1348	47	1	2913	1	DMXL1	5	118483101	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	11266233	118483101	62432159	75	5979										
FBN2	2201	broad.mit.edu	37	chr5	127648440	127648440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtgttgcaagacagactccCatctcctcgaggtccaaact	9	13	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.chr5:127648440C>A	ENST00000508053.1	-	43	5739	c.4765G>T	c.(4765-4767)Ggg>Tgg	p.G1589W	FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W			P35556	FBN2_HUMAN	fibrillin 2	1589	TB 6.				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)		GACAGACTCCCATCTCCTCGA	0.557																																						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.(4765-4767)Ggg>Tgg		fibrillin 2							228	227	227					5																	127648440		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.chr5:127648440C>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.4765G>T	5.37:g.127648440C>A	ENSP00000424571:p.Gly1589Trp		Somatic				FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W	p.G1589W			WXS	Illumina GAIIx	Phase_I	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)	43	5739	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1589			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4765G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869497	0.72065	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93189	-3.18;-3.18	5.3	5.3	0.74995	Matrix fibril-associated (2);TGF-beta binding (1);	0.100162	0.45126	D	0.000384	D	0.96632	0.8901	M	0.81942	2.565	0.58432	D	0.999998	D	0.71674	0.998	D	0.65573	0.936	D	0.96766	0.9565	10	0.72032	D	0.01	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	1589	P35556	FBN2_HUMAN	W	1589	ENSP00000262464:G1589W;ENSP00000424571:G1589W	ENSP00000262464:G1589W	G	-	1	0	FBN2	127676339	0.998000	0.40836	0.975000	0.42487	0.310000	0.27922	5.847000	0.69451	2.769000	0.95229	0.655000	0.94253	GGG		0.557	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	302	8	302	---	---	---	---	A	127648440	C	A	127648440	3	1	130	1	0	0	0	0	1	0	0	0	5703	594	21	1	4089	1	FBN2	5	127648440	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	9165339	127648440	53266820	76	5980										
EGR1	1958	broad.mit.edu	37	chr5	137803740	137803740	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttcggacatgacagcaacCttttctcccaggacaattga	7	12	1	2	rs200636536		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.chr5:137803740C>A	ENST00000239938.4	+	2	1874	c.1602C>A	c.(1600-1602)acC>acA	p.T534T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	534					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)			TGACAGCAACCTTTTCTCCCA	0.512																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1600-1602)acC>acA		early growth response 1							68	71	70					5																	137803740		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.chr5:137803740C>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.1602C>A	5.37:g.137803740C>A			Somatic					p.T534T	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1874	+			534						Silent	SNP	ENST00000239938.4	37	c.1602C>A	CCDS4206.1																																																																																				0.512	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		6	106	6	106	---	---	---	---	A	137803740	C	A	137803740	2	1	130	1	0	0	0	0	0	0	0	1	4971	668	24	1		1	EGR1	5	137803740	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	10155300	137803740	43111520	77	5981										
PCDHB10	56126	broad.mit.edu	37	chr5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggaagtatcctattcatttTttgatgcctcagaaaatatt	6	7	2	2	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	56126				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		Somatic					p.F282V	NM_018930.3	NP_061753.1	WXS	Illumina GAIIx	Phase_I	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	12	58	---	---	---	---	G	140572969	T	G	140572969	3	3	130	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	2769229	140572969	40342291	78	5982										
PCDHGA5	56110	broad.mit.edu	37	chr5	140745592	140745592	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgcctgagatcctgtacccCgccctccccacagacggttc	8	19	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.chr5:140745592C>A	ENST00000518069.1	+	1	1695	c.1695C>A	c.(1693-1695)ccC>ccA	p.P565P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	565					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)			TCCTGTACCCCGCCCTCCCCA	0.612																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1693-1695)ccC>ccA									139	153	148					5																	140745592		2203	4300	6503	SO:0001819	synonymous_variant	56110							g.chr5:140745592C>A	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.1695C>A	5.37:g.140745592C>A			Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P565P	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1695	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1695C>A	CCDS54925.1																																																																																				0.612	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		6	197	6	197	---	---	---	---	A	140745592	C	A	140745592	2	1	130	1	0	0	0	0	0	0	0	1	11557	639	23	1		1	PCDHGA5	5	140745592	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	172623	140745592	40169668	79	5983										
PCDHGA11	56105	broad.mit.edu	37	chr5	140801620	140801620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccagacgagggaatcaacGgggaagtaatgtattcattt	11	6	2	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.chr5:140801620G>T	ENST00000398587.2	+	1	859	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	276	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.G276R(2)		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)			GGGAATCAACGGGGAAGTAAT	0.463																																						ENST00000398587.2																			2	Substitution - Missense(2)	p.G276R(2)	lung(2)	breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(826-828)Ggg>Tgg									141	141	141					5																	140801620		1866	4103	5969	SO:0001583	missense	56105							g.chr5:140801620G>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.826G>T	5.37:g.140801620G>T	ENSP00000381589:p.Gly276Trp		Somatic				PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	p.G276W	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	859	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.826G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	16.09	3.023930	0.54683	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.53423	0.62;0.62	5.82	4.9	0.64082	Cadherin (4);Cadherin-like (1);	229.351000	0.02392	U	0.079788	D	0.83367	0.5239	H	0.97390	3.995	0.34345	D	0.689198	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73062	-0.4101	10	0.87932	D	0	.	15.3802	0.74648	0.0:0.0:0.86:0.14	.	276;276;276	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	W	276	ENSP00000381589:G276W;ENSP00000428333:G276W	ENSP00000381589:G276W	G	+	1	0	PCDHGA11	140781804	0.994000	0.37717	0.969000	0.41365	0.671000	0.39405	2.819000	0.48049	2.752000	0.94435	0.655000	0.94253	GGG		0.463	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	221	5	221	---	---	---	---	T	140801620	G	T	140801620	3	4	130	1	0	0	0	0	1	0	0	0	11552	1116	39	1	828	1	PCDHGA11	5	140801620	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	56028	140801620	40113640	80	5984										
PPP2R2B	5521	broad.mit.edu	37	chr5	146080644	146080644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatattacaacccgacccccCttgtcccctgtcgctagtaa	5	16	0	0			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.chr5:146080644C>A	ENST00000394413.3	-	2	702	c.132G>T	c.(130-132)aaG>aaT	p.K44N	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	44					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)			CCCGACCCCCCTTGTCCCCTG	0.448																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(130-132)aaG>aaT		protein phosphatase 2, regulatory subunit B, beta							306	314	311					5																	146080644		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.chr5:146080644C>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.132G>T	5.37:g.146080644C>A	ENSP00000377935:p.Lys44Asn		Somatic				PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N	p.K44N			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	702	-			44					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.132G>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783107	0.70222	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.01;-1.0;1.28;-1.01;-1.01;-1.01;-1.0;-1.02;-1.0;1.28;-0.52	6.07	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.75884	2.315	0.80722	D	1	D;D;D;P;P;D	0.63880	0.993;0.98;0.98;0.797;0.936;0.98	P;P;P;B;B;P	0.61658	0.868;0.858;0.858;0.42;0.364;0.892	D	0.88197	0.2881	10	0.87932	D	0	-14.403	15.5979	0.76602	0.0:0.9341:0.0:0.0659	.	102;50;33;110;47;44	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	N	44;33;110;44;44;44;33;47;50;102;24	ENSP00000377935:K44N;ENSP00000431320:K33N;ENSP00000377936:K110N;ENSP00000377933:K44N;ENSP00000349283:K44N;ENSP00000398779:K44N;ENSP00000377932:K33N;ENSP00000336591:K47N;ENSP00000421396:K50N;ENSP00000377931:K102N;ENSP00000421224:K24N	ENSP00000336591:K47N	K	-	3	2	AC011357.1	146060837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.123000	0.41996	1.578000	0.49821	0.655000	0.94253	AAG		0.448	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		10	545	10	545	---	---	---	---	A	146080644	C	A	146080644	3	1	130	1	0	0	0	0	1	0	0	0	12385	680	24	1	1231	1	PPP2R2B	5	146080644	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5279024	146080644	34834616	81	5985										
SPINK5	11005	broad.mit.edu	37	chr5	147486631	147486631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaatttcgggaccaagtgaGgaatggaacacttatatgca	11	6	0	2	rs567684545		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.chr5:147486631G>T	ENST00000256084.7	+	17	1553	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SPINK5_ENST00000359874.3_Missense_Mutation_p.R504M|SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	504	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGTGAGGAATGGAACA	0.438																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1510-1512)aGg>aTg		serine peptidase inhibitor, Kazal type 5							139	131	134					5																	147486631		1938	4143	6081	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486631G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1511G>T	5.37:g.147486631G>T	ENSP00000256084:p.Arg504Met		Somatic				SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M|SPINK5_ENST00000256084.7_Missense_Mutation_p.R504M	p.R504M	NM_001127698.1	NP_001121170.1	WXS	Illumina GAIIx	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1584	+			504			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1511G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715909	0.48622	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.81	3.0	0.34707	Proteinase inhibitor I1, Kazal (1);	0.121890	0.37261	N	0.002171	T	0.22126	0.0533	M	0.75777	2.31	0.23304	N	0.997945	D;D;D;D	0.62365	0.969;0.991;0.985;0.991	P;D;P;D	0.66497	0.77;0.944;0.77;0.944	T	0.02546	-1.1143	10	0.45353	T	0.12	-5.8154	7.7746	0.29030	0.194:0.0:0.806:0.0	.	485;504;504;504	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	M	504;504;485;504	ENSP00000381472:R504M;ENSP00000352936:R504M;ENSP00000421519:R485M;ENSP00000256084:R504M	ENSP00000256084:R504M	R	+	2	0	SPINK5	147466824	0.009000	0.17119	0.154000	0.22540	0.767000	0.43475	0.134000	0.15932	0.730000	0.32425	0.561000	0.74099	AGG		0.438	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		6	115	6	115	---	---	---	---	T	147486631	G	T	147486631	3	4	130	1	0	0	0	0	1	0	0	0	15061	1000	35	1	1577	1	SPINK5	5	147486631	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1405987	147486631	33428629	82	5986										
NKX2-5	1482	broad.mit.edu	37	chr5	172659608	172659608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatgcagcgtggacactccCgagttgctctgcggaatccc	11	15	1	0			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.chr5:172659608C>A	ENST00000329198.4	-	2	1212	c.939G>T	c.(937-939)tcG>tcT	p.S313S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	313					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|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)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|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 via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 transcription cofactor activity (GO:0001104)|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)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGACACTCCCGAGTTGCTCT	0.657																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(937-939)tcG>tcT		NK2 homeobox 5							38	40	39					5																	172659608		2203	4300	6503	SO:0001819	synonymous_variant	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659608C>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.939G>T	5.37:g.172659608C>A			Somatic					p.S313S	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	WXS	Illumina GAIIx	Phase_I	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1212	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	313					A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	c.939G>T	CCDS4387.1																																																																																				0.657	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			4	50	4	50	---	---	---	---	A	172659608	C	A	172659608	2	1	130	1	0	0	0	0	0	0	0	1	10453	639	23	1		1	NKX2-5	5	172659608	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	25172977	172659608	8255652	83	5987										
IRF4	3662	broad.mit.edu	37	chr6	397187	397187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagccacacccggaaatccCgtaccaatgtcccatgacgt	7	16	1	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.chr6:397187C>A	ENST00000380956.4	+	5	698	c.572C>A	c.(571-573)cCg>cAg	p.P191Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	191					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)		CCGGAAATCCCGTACCAATGT	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.(571-573)cCg>cAg		interferon regulatory factor 4							107	111	109					6																	397187		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.chr6:397187C>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.572C>A	6.37:g.397187C>A	ENSP00000370343:p.Pro191Gln		Somatic				IRF4_ENST00000495137.1_3'UTR	p.P191Q	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	698	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	191					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.572C>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209616	0.58343	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97303	-4.33	5.3	5.3	0.74995	.	0.419289	0.26293	N	0.025201	D	0.92378	0.7581	L	0.32530	0.975	0.53688	D	0.999979	B;B;B;P	0.41673	0.034;0.065;0.087;0.759	B;B;B;B	0.36289	0.034;0.038;0.041;0.221	D	0.92949	0.6379	10	0.44086	T	0.13	-6.3521	18.9705	0.92713	0.0:1.0:0.0:0.0	.	191;221;190;191	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	Q	191;220	ENSP00000370343:P191Q	ENSP00000370343:P191Q	P	+	2	0	IRF4	342187	1.000000	0.71417	0.630000	0.29268	0.722000	0.41435	6.346000	0.72999	2.490000	0.84030	0.555000	0.69702	CCG		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	143	6	143	---	---	---	---	A	397187	C	A	397187	3	1	130	1	0	0	0	0	1	0	0	0	7832	652	23	1	586	1	IRF4	6	397187	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		397187	170717880	84	5988										
EEF1E1	9521	broad.mit.edu	37	chr6	8097604	8097604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttcttctgcagtactccCcagcaaatattctttgttgg	6	10	3	0			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.chr6:8097604C>A	ENST00000379715.5	-	2	240	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	62	GST C-terminal.|Linker.				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)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCAGTACTCCCCAGCAAATAT	0.418																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(184-186)Ggg>Tgg		eukaryotic translation elongation factor 1 epsilon 1							182	165	171					6																	8097604		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.chr6:8097604C>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.184G>T	6.37:g.8097604C>A	ENSP00000369038:p.Gly62Trp		Somatic				EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	p.G62W	NM_004280.4	NP_004271.1	WXS	Illumina GAIIx	Phase_I	O43324	MCA3_HUMAN			2	240	-	Ovarian(93;0.0398)		62			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.184G>T	CCDS4507.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.838849|4.838849	0.91117|0.91117	.|.	.|.	ENSG00000124802|ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226|ENST00000502429	T;T;T|.	0.15017|.	3.26;3.26;2.46|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82737|0.82737	0.5102|0.5102	M|M	0.88570|0.88570	2.965|2.965	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	0.84560|0.84560	0.0649|0.0649	9|5	.|.	.|.	.|.	-20.0729|-20.0729	19.6614|19.6614	0.95875|0.95875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	62;62|.	C9JLK5;O43324|.	.;MCA3_HUMAN|.	W|C	62;62;62;74|48	ENSP00000414363:G62W;ENSP00000369038:G62W;ENSP00000425577:G74W|.	.|.	G|W	-|-	1|3	0|0	EEF1E1|EEF1E1	8042603|8042603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.723000|6.723000	0.74742|0.74742	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.418	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		6	135	6	135	---	---	---	---	A	8097604	C	A	8097604	3	1	130	1	0	0	0	0	1	0	0	0	4927	623	22	1	392	1	EEF1E1	6	8097604	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	7700417	8097604	163017463	85	5989										
MYLIP	29116	broad.mit.edu	37	chr6	16145414	16145414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcagctgccagcagaccCgggtgctgcaggagaagcta	14	13	1	2	rs141183183		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.chr6:16145414C>A	ENST00000356840.3	+	6	1312	c.1114C>A	c.(1114-1116)Cgg>Agg	p.R372R	MYLIP_ENST00000349606.4_Silent_p.R191R	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	372					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.R372R(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)			CCAGCAGACCCGGGTGCTGCA	0.582																																						ENST00000349606.4																			1	Substitution - coding silent(1)	p.R372R(1)	lung(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.(571-573)Cgg>Agg		myosin regulatory light chain interacting protein							74	76	75					6																	16145414		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.chr6:16145414C>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.1114C>A	6.37:g.16145414C>A			Somatic				MYLIP_ENST00000356840.3_Silent_p.R372R	p.R191R			WXS	Illumina GAIIx	Phase_I	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	1075	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	372			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.571C>A	CCDS4536.1																																																																																				0.582	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		5	137	5	137	---	---	---	---	A	16145414	C	A	16145414	2	1	130	1	0	0	0	0	0	0	0	1	10055	643	23	1		1	MYLIP	6	16145414	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8047810	16145414	154969653	86	5990										
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217532	26217532	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgcagggcggtgtcctgccCaacatccaggccgtattgct	13	14	0	0	rs16891432		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.chr6:26217532C>A	ENST00000303910.2	+	1	368	c.330C>A	c.(328-330)ccC>ccA	p.P110P	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GTGTCCTGCCCAACATCCAGG	0.572																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(328-330)ccC>ccA		histone cluster 1, H2ae							66	65	65					6																	26217532		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217532C>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.330C>A	6.37:g.26217532C>A			Somatic					p.P110P	NM_021052.2	NP_066390.1	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	368	+		all_hematologic(11;0.196)	110					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.330C>A	CCDS4595.1																																																																																				0.572	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	71	5	71	---	---	---	---	A	26217532	C	A	26217532	2	1	130	1	0	0	0	0	0	0	0	1	7132	581	21	1		1	HIST1H2AE	6	26217532	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	10072118	26217532	144897535	87	5991										
ZNF322A	79692	broad.mit.edu	37	chr6	26637649	26637649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactcacattacagacaaacGgtttttcaccaatgtgtact	5	11	2	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.chr6:26637649G>T	ENST00000415922.2	-	4	1778	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	378					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)										ACAGACAAACGGTTTTTCACC	0.443																																						ENST00000415922.2																			0											c.(1132-1134)cCg>cAg		zinc finger protein 322							341	252	282					6																	26637649		2202	4299	6501	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637649G>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.1133C>A	6.37:g.26637649G>T	ENSP00000418897:p.Pro378Gln		Somatic				ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q	p.P378Q	NM_024639.4	NP_078915.2	WXS	Illumina GAIIx	Phase_I	Q6U7Q0	Z322A_HUMAN			4	1778	-			378					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1133C>A	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.052384	0.55218	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.20598	2.06;2.06	4.53	4.53	0.55603	.	0.000000	0.42420	D	0.000707	T	0.37679	0.1012	M	0.84948	2.725	0.37130	D	0.901211	D	0.89917	1.0	D	0.77557	0.99	T	0.39165	-0.9627	10	0.87932	D	0	-5.4658	8.6716	0.34154	0.1031:0.0:0.8969:0.0	.	378	Q6U7Q0	ZN322_HUMAN	Q	378	ENSP00000418897:P378Q;ENSP00000419728:P378Q	ENSP00000418897:P378Q	P	-	2	0	ZNF322	26745628	1.000000	0.71417	0.686000	0.30086	0.903000	0.53119	4.558000	0.60789	2.491000	0.84063	0.655000	0.94253	CCG		0.443	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		7	394	7	394	---	---	---	---	T	26637649	G	T	26637649	3	4	130	1	0	0	0	0	1	0	0	0	17838	1116	39	1	79	1	ZNF322A	6	26637649	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	420117	26637649	144477418	88	5992										
HIST1H4L	8368	broad.mit.edu	37	chr6	27841267	27841267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctttgcccagacccttccCgcctttgccgcgcccagaca	7	20	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.chr6:27841267C>A	ENST00000355981.2	-	1	22	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	8					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)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AGACccttcccgcctttgccg	0.557																																						ENST00000355981.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(22-24)Ggg>Tgg		histone cluster 1, H4l							47	44	45					6																	27841267		2203	4300	6503	SO:0001583	missense	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841267C>A	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.22G>T	6.37:g.27841267C>A	ENSP00000348258:p.Gly8Trp		Somatic					p.G8W	NM_003546.2	NP_003537.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	22	-			8					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355981.2	37	c.22G>T	CCDS4637.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751375	0.49257	.	.	ENSG00000198558	ENST00000355981	.	.	.	3.91	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.61565	0.2357	.	.	.	0.44221	D	0.997058	.	.	.	.	.	.	T	0.66921	-0.5801	6	0.87932	D	0	.	10.8625	0.46835	0.1906:0.8094:0.0:0.0	.	.	.	.	W	8	.	ENSP00000348258:G8W	G	-	1	0	HIST1H4L	27949246	1.000000	0.71417	0.028000	0.17463	0.040000	0.13550	7.285000	0.78660	0.884000	0.36064	0.655000	0.94253	GGG		0.557	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		4	69	4	69	---	---	---	---	A	27841267	C	A	27841267	3	1	130	1	0	0	0	0	1	0	0	0	7176	652	23	1	293	1	HIST1H4L	6	27841267	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1203618	27841267	143273800	89	5993										
KIAA1949	170954	broad.mit.edu	37	chr6	30653707	30653707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatctgggacaggcgctccCgttctgctttctctcggcct	11	15	3	0	rs200269206		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.chr6:30653707C>A	ENST00000274853.3	-	1	1965	c.89G>T	c.(88-90)cGg>cTg	p.R30L	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CAGGCGCTCCCGTTCTGCTTT	0.677																																						ENST00000274853.3																			0											c.(88-90)cGg>cTg		protein phosphatase 1, regulatory subunit 18							89	105	100					6																	30653707		1258	2535	3793	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653707C>A	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.89G>T	6.37:g.30653707C>A	ENSP00000274853:p.Arg30Leu		Somatic				PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	p.R30L	NM_133471.3	NP_597728.1	WXS	Illumina GAIIx	Phase_I	Q6NYC8	PHTNS_HUMAN			1	1965	-			30					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.89G>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281292	0.40394	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.25250	1.81;1.81	5.56	1.75	0.24633	.	0.176669	0.25887	N	0.027656	T	0.06188	0.0160	L	0.27053	0.805	0.32058	N	0.596028	B	0.16603	0.018	B	0.22753	0.041	T	0.15578	-1.0432	10	0.72032	D	0.01	-5.9648	4.8836	0.13692	0.1358:0.5519:0.0:0.3123	.	30	Q6NYC8	PPR18_HUMAN	L	30	ENSP00000274853:R30L;ENSP00000382150:R30L	ENSP00000274853:R30L	R	-	2	0	KIAA1949	30761686	0.583000	0.26757	0.354000	0.25760	0.716000	0.41182	-0.047000	0.11963	0.311000	0.23014	0.655000	0.94253	CGG		0.677	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		6	193	6	193	---	---	---	---	A	30653707	C	A	30653707	3	1	130	1	0	0	0	0	1	0	0	0	8263	652	23	1	1764	1	KIAA1949	6	30653707	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2812440	30653707	140461360	90	5994										
CFB	629	broad.mit.edu	37	chr6	31914338	31914338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctacggggtcctggagcaccCtgaagactcaagaccaaaag	11	12	1	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.chr6:31914338C>A	ENST00000425368.2	+	2	766	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	CFB_ENST00000456570.1_Missense_Mutation_p.L587M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	85	Sushi 1. {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)|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						CTGGAGCACCCTGAAGACTCA	0.577																																						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.(1759-1761)Ctg>Atg		complement factor B							73	57	63					6																	31914338		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914338C>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.253C>A	6.37:g.31914338C>A	ENSP00000416561:p.Leu85Met		Somatic				CFB_ENST00000425368.2_Missense_Mutation_p.L85M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M	p.L587M			WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			14	1814	+			85			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.1759C>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380922	0.42207	.	.	ENSG00000243649;ENSG00000243649;ENSG00000243649;ENSG00000244255	ENST00000556679;ENST00000475617;ENST00000425368;ENST00000456570	D;T;T;D	0.82255	-1.59;-0.16;-1.47;-1.59	5.17	4.24	0.50183	Sushi/SCR/CCP (2);	0.952708	0.08586	N	0.923739	T	0.81143	0.4761	L	0.35341	1.055	0.42033	D	0.991036	D;P;B;P	0.89917	1.0;0.898;0.252;0.823	D;P;B;P	0.97110	1.0;0.896;0.152;0.485	T	0.74182	-0.3748	10	0.25751	T	0.34	0.0177	10.1601	0.42847	0.1988:0.8012:0.0:0.0	.	85;587;85;85	B4E1Z1;B4E1Z4;P00751;P00751-2	.;.;CFAB_HUMAN;.	M	587;85;85;587	ENSP00000451848:L587M;ENSP00000420090:L85M;ENSP00000416561:L85M;ENSP00000410815:L587M	ENSP00000416561:L85M	L	+	1	2	CFB;XXbac-BPG116M5.17	32022317	0.970000	0.33590	0.139000	0.22197	0.425000	0.31504	1.777000	0.38604	2.437000	0.82529	0.313000	0.20887	CTG		0.577	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		5	37	5	37	---	---	---	---	A	31914338	C	A	31914338	3	1	130	1	0	0	0	0	1	0	0	0	3278	680	24	1	259	1	CFB	6	31914338	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1260631	31914338	139200729	91	5995										
BRPF3	27154	broad.mit.edu	37	chr6	36196700	36196700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatcgatcccaagatgcccCgggagggcctcctgcacaat	10	15	1	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.chr6:36196700C>A	ENST00000357641.6	+	12	3554	c.3301C>A	c.(3301-3303)Cgg>Agg	p.R1101R	BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000534400.1_Missense_Mutation_p.P1068Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1101	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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						CAAGATGCCCCGGGAGGGCCT	0.612																																						ENST00000534400.1																			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.(3202-3204)cCg>cAg		bromodomain and PHD finger containing, 3							84	80	81					6																	36196700		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.chr6:36196700C>A	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.3301C>A	6.37:g.36196700C>A			Somatic				BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000357641.6_Silent_p.R1101R	p.P1068Q			WXS	Illumina GAIIx	Phase_I	Q9ULD4	BRPF3_HUMAN			10	3229	+			960					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.3203C>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659518	0.47467	.	.	ENSG00000096070	ENST00000534400	T	0.14391	2.51	5.21	5.21	0.72293	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13548	-1.0505	6	0.22109	T	0.4	.	12.7675	0.57401	0.2862:0.7138:0.0:0.0	.	.	.	.	Q	1068	ENSP00000436504:P1068Q	ENSP00000436504:P1068Q	P	+	2	0	BRPF3	36304678	0.816000	0.29132	1.000000	0.80357	1.000000	0.99986	1.476000	0.35420	2.591000	0.87537	0.655000	0.94253	CCG		0.612	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		6	106	6	106	---	---	---	---	A	36196700	C	A	36196700	2	1	130	1	0	0	0	0	0	0	0	1	1521	643	23	1		1	BRPF3	6	36196700	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4282362	36196700	134918367	92	5996										
DNAH8	1769	broad.mit.edu	37	chr6	38980409	38980409	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgactggtttctttaatccCcaaggtatgtgctcatagga	9	8	2	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.chr6:38980409C>A	ENST00000359357.3	+	89	13313	c.13059C>A	c.(13057-13059)ccC>ccA	p.P4353P	DNAH8_ENST00000441566.1_Silent_p.P4317P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4353					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						TCTTTAATCCCCAAGGTATGT	0.378																																						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.(13057-13059)ccC>ccA		dynein, axonemal, heavy chain 8							194	192	193					6																	38980409		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38980409C>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.13059C>A	6.37:g.38980409C>A			Somatic				DNAH8_ENST00000441566.1_Silent_p.P4317P	p.P4353P			WXS	Illumina GAIIx	Phase_I					89	13313	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.13059C>A																																																																																					0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	160	6	160	---	---	---	---	A	38980409	C	A	38980409	2	1	130	1	0	0	0	0	0	0	0	1	4607	610	22	1		1	DNAH8	6	38980409	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2783709	38980409	132134658	93	5997										
USP49	25862	broad.mit.edu	37	chr6	41774513	41774513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacagaacacgtagagatccCggacttccatggctagcggg	12	11	0	2	rs139687733		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.chr6:41774513C>A	ENST00000394253.3	-	3	538	c.209G>T	c.(208-210)cGg>cTg	p.R70L	USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	70					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)	p.R70L(1)		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)			GTAGAGATCCCGGACTTCCAT	0.592																																						ENST00000394253.3																			1	Substitution - Missense(1)	p.R70L(1)	kidney(1)	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.(208-210)cGg>cTg		ubiquitin specific peptidase 49							135	135	135					6																	41774513		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774513C>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.209G>T	6.37:g.41774513C>A	ENSP00000377797:p.Arg70Leu		Somatic				USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L	p.R70L			WXS	Illumina GAIIx	Phase_I	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	538	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		70					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.209G>T		.	.	.	.	.	.	.	.	.	.	C	18.30	3.594477	0.66219	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.2	4.25	0.50352	.	0.322572	0.34484	N	0.003932	T	0.16642	0.0400	L	0.48642	1.525	0.39819	D	0.972818	P	0.34546	0.456	B	0.40534	0.332	T	0.14227	-1.0480	10	0.72032	D	0.01	-10.115	4.5525	0.12120	0.0:0.7228:0.0:0.2771	.	70	Q70CQ1-2	.	L	70	ENSP00000377797:R70L;ENSP00000362101:R70L;ENSP00000362100:R70L;ENSP00000362097:R70L;ENSP00000297229:R70L	ENSP00000297229:R70L	R	-	2	0	USP49	41882491	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	3.560000	0.53763	2.704000	0.92352	0.655000	0.94253	CGG		0.592	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		7	164	7	164	---	---	---	---	A	41774513	C	A	41774513	3	1	130	1	0	0	0	0	1	0	0	0	17077	652	23	1	1729	1	USP49	6	41774513	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2794104	41774513	129340554	94	5998										
POLR1C	9533	broad.mit.edu	37	chr6	43488045	43488045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atatgacatggatccccctgGggaaccaggctgatctcttt	10	11	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.chr6:43488045G>T	ENST00000372389.3	+	6	623	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	179					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)			GATCCCCCTGGGGAACCAGGC	0.522																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(535-537)Ggg>Tgg		polymerase (RNA) I polypeptide C, 30kDa							139	142	141					6																	43488045		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.chr6:43488045G>T	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.535G>T	6.37:g.43488045G>T	ENSP00000361465:p.Gly179Trp		Somatic				POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W	p.G179W	NM_203290.2	NP_976035.1	WXS	Illumina GAIIx	Phase_I	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)		6	623	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		179					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.535G>T	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.004962|5.004962	0.93287|0.93287	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000423780|ENST00000428025;ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	.|D;D;T	.|0.85411	.|-1.93;-1.98;-0.94	5.53|5.53	5.53|5.53	0.82687|0.82687	.|DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (3);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94555|0.94555	0.8246|0.8246	H|H	0.94503|0.94503	3.545|3.545	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	0.95526|0.95526	0.8599|0.8599	6|10	.|0.87932	.|D	.|0	-29.7051|-29.7051	19.4658|19.4658	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|179;179	.|O15160-2;O15160	.|.;RPAC1_HUMAN	V|W	138|124;179;93;179;179	.|ENSP00000361465:G179W;ENSP00000361419:G179W;ENSP00000307212:G179W	.|ENSP00000307212:G179W	G|G	+|+	2|1	0|0	POLR1C|POLR1C	43596023|43596023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.750000|9.750000	0.98875|0.98875	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.522	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		9	156	9	156	---	---	---	---	T	43488045	G	T	43488045	3	4	130	1	0	0	0	0	1	0	0	0	12211	1232	43	1	557	1	POLR1C	6	43488045	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1713532	43488045	127627022	95	5999										
CYP39A1	51302	broad.mit.edu	37	chr6	46563765	46563765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacttttctagtaatgacacCaggagcttttaaacgaatgg	8	8	1	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.chr6:46563765C>A	ENST00000275016.2	-	8	1227	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	342					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|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)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTAATGACACCAGGAGCTTTT	0.353																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1024-1026)Ggt>Tgt		cytochrome P450, family 39, subfamily A, polypeptide 1							96	102	100					6																	46563765		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46563765C>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1024G>T	6.37:g.46563765C>A	ENSP00000275016:p.Gly342Cys		Somatic					p.G342C	NM_016593.3	NP_057677.2	WXS	Illumina GAIIx	Phase_I	Q9NYL5	CP39A_HUMAN			8	1227	-			342					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1024G>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278541	0.80692	.	.	ENSG00000146233	ENST00000275016	T	0.69175	-0.38	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81420	-0.0941	10	0.51188	T	0.08	-10.4037	18.0315	0.89286	0.0:1.0:0.0:0.0	.	322;342	B7Z786;Q9NYL5	.;CP39A_HUMAN	C	342	ENSP00000275016:G342C	ENSP00000275016:G342C	G	-	1	0	CYP39A1	46671724	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.805000	0.69143	2.687000	0.91594	0.557000	0.71058	GGT		0.353	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			5	118	5	118	---	---	---	---	A	46563765	C	A	46563765	3	1	130	1	0	0	0	0	1	0	0	0	4177	594	21	1	405	1	CYP39A1	6	46563765	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3075720	46563765	124551302	96	6000										
CRISP3	10321	broad.mit.edu	37	chr6	49703267	49703267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtaattgcactggtttgccCacttttgggcatttgctgca	10	9	0	0			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.chr6:49703267C>A	ENST00000393666.1	-	3	233	c.227G>T	c.(226-228)tGg>tTg	p.W76L	CRISP3_ENST00000433368.2_Missense_Mutation_p.W99L|CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	76	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)			CTGGTTTGCCCACTTTTGGGC	0.358																																						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.(295-297)tGg>tTg		cysteine-rich secretory protein 3							159	148	151					6																	49703267		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49703267C>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.227G>T	6.37:g.49703267C>A	ENSP00000377274:p.Trp76Leu		Somatic				CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.W76L	p.W99L	NM_001190986.1	NP_001177915.1	WXS	Illumina GAIIx	Phase_I	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	365	-	Lung NSC(77;0.0161)		76					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.296G>T		.	.	.	.	.	.	.	.	.	.	C	17.66	3.444244	0.63067	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	4.79	3.9	0.45041	CAP domain (3);	0.000000	0.64402	U	0.000007	T	0.21590	0.0520	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02991	-1.1085	10	0.54805	T	0.06	.	10.9285	0.47205	0.0:0.8093:0.1907:0.0	.	76	P54108	CRIS3_HUMAN	L	89;99;76;107;99	ENSP00000263045:W89L;ENSP00000389026:W99L;ENSP00000377274:W76L;ENSP00000360201:W107L;ENSP00000346636:W99L	ENSP00000263045:W89L	W	-	2	0	CRISP3	49811226	1.000000	0.71417	0.800000	0.32199	0.744000	0.42396	4.586000	0.60984	0.970000	0.38263	0.462000	0.41574	TGG		0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		6	211	6	211	---	---	---	---	A	49703267	C	A	49703267	3	1	130	1	0	0	0	0	1	0	0	0	3881	595	21	1	530	1	CRISP3	6	49703267	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3139502	49703267	121411800	97	6001										
CRISP3	10321	broad.mit.edu	37	chr6	49704221	49704221	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagcagtaaaagcgggatcCtaagggaaaataaaattaca	9	5	0	0			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.chr6:49704221C>A	ENST00000393666.1	-	2	79		c.e2-1		CRISP3_ENST00000433368.2_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						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)			AAGCGGGATCCTAAGGGAAAA	0.363																																						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.e3-1		cysteine-rich secretory protein 3							146	142	144					6																	49704221		2203	4300	6503	SO:0001630	splice_region_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704221C>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.73-1G>T	6.37:g.49704221C>A			Somatic				CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Splice_Site		NM_001190986.1	NP_001177915.1	WXS	Illumina GAIIx	Phase_I	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	211	-	Lung NSC(77;0.0161)							A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37			.	.	.	.	.	.	.	.	.	.	C	10.31	1.314057	0.23908	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9968	0.64407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49812180	0.960000	0.32886	0.062000	0.19696	0.006000	0.05464	4.052000	0.57420	2.453000	0.82957	0.655000	0.94253	.		0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron	6	178	6	178	---	---	---	---	A	49704221	C	A	49704221	5	1	130	1	0	0	0	0	0	0	1	0	3881	695	24	1	689	1	CRISP3	6	49704221	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	954	49704221	121410846	98	6002										
COL9A1	1297	broad.mit.edu	37	chr6	70965065	70965065	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcctttgggacctgcttctCctggaggtcctcgctgtcct	10	15	1	0			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.chr6:70965065C>A	ENST00000357250.6	-	22	1690	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	511	Collagen-like 5.|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						ACCTGCTTCTCCTGGAGGTCC	0.363																																						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.(1531-1533)gGa>gTa		collagen, type IX, alpha 1							178	158	165					6																	70965065		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70965065C>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.1532G>T	6.37:g.70965065C>A	ENSP00000349790:p.Gly511Val		Somatic				COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	p.G511V	NM_001851.4	NP_001842.3	WXS	Illumina GAIIx	Phase_I	P20849	CO9A1_HUMAN			22	1690	-			511			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1532G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361842	0.61403	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.98818	4.34	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	0.96558	0.9413	10	0.87932	D	0	.	17.6295	0.88103	0.0:1.0:0.0:0.0	.	511;268;84	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	V	511;268;268	ENSP00000349790:G511V;ENSP00000315252:G268V;ENSP00000359530:G268V	ENSP00000315252:G268V	G	-	2	0	COL9A1	71021786	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.370000	0.73114	2.583000	0.87209	0.655000	0.94253	GGA		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			6	134	6	134	---	---	---	---	A	70965065	C	A	70965065	3	1	130	1	0	0	0	0	1	0	0	0	3707	855	30	3	1301	3	COL9A1	6	70965065	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	21260844	70965065	100150002	99	6003										
MDN1	23195	broad.mit.edu	37	chr6	90460077	90460077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatcttaaccctaccttcCttaaagacaagcttccctga	5	13	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.chr6:90460077C>A	ENST00000369393.3	-	24	3517	c.3402G>T	c.(3400-3402)aaG>aaT	p.K1134N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1134					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)		CCCTACCTTCCTTAAAGACAA	0.408																																						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.(3400-3402)aaG>aaT		MDN1, midasin homolog (yeast)							154	133	140					6																	90460077		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460077C>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.3402G>T	6.37:g.90460077C>A	ENSP00000358400:p.Lys1134Asn		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N	p.K1134N			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3517	-		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)	1134					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3402G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	8.391	0.839834	0.16891	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.55413	0.52;0.52;0.52	5.59	-0.968	0.10313	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.048965	0.85682	N	0.000000	T	0.27967	0.0689	L	0.58810	1.83	0.39686	D	0.970971	B	0.29037	0.231	B	0.34301	0.179	T	0.08617	-1.0713	10	0.41790	T	0.15	.	7.1166	0.25421	0.1315:0.4825:0.0:0.386	.	1134	Q9NU22	MDN1_HUMAN	N	1134;1134;1061	ENSP00000358400:K1134N;ENSP00000413970:K1134N;ENSP00000409664:K1061N	ENSP00000358400:K1134N	K	-	3	2	MDN1	90516798	1.000000	0.71417	0.990000	0.47175	0.427000	0.31564	1.013000	0.29937	-0.431000	0.07307	-1.305000	0.01319	AAG		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	117	6	117	---	---	---	---	A	90460077	C	A	90460077	3	1	130	1	0	0	0	0	1	0	0	0	9415	680	24	1	13704	1	MDN1	6	90460077	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	19495012	90460077	80654990	100	6004										
AKD1	221264	broad.mit.edu	37	chr6	109867181	109867181	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcctcaaattcaggtccCactttcttttcagttttgag	5	11	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.chr6:109867181C>A	ENST00000424296.2	-	26	3190	c.3114G>T	c.(3112-3114)gtG>gtT	p.V1038V	AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1038	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATTCAGGTCCCACTTTCTTTT	0.368																																						ENST00000424296.2																			0											c.(3112-3114)gtG>gtT		adenylate kinase 9							101	100	100					6																	109867181		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109867181C>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3114G>T	6.37:g.109867181C>A			Somatic				AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	p.V1038V	NM_001145128.2	NP_001138600.2	WXS	Illumina GAIIx	Phase_I					26	3190	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.3114G>T	CCDS55048.1																																																																																				0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		6	105	6	105	---	---	---	---	A	109867181	C	A	109867181	2	1	130	1	0	0	0	0	0	0	0	1	460	581	21	1		1	AKD1	6	109867181	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	19407104	109867181	61247886	101	6005										
DSE	29940	broad.mit.edu	37	chr6	116720686	116720686	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacctccctccctgggatccCaaggactacagtgcccgctg	9	17	0	0			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.chr6:116720686C>A	ENST00000331677.3	+	3	717	c.273C>A	c.(271-273)ccC>ccA	p.P91P	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.P110P|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	91					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)		CCTGGGATCCCAAGGACTACA	0.562																																						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.(271-273)ccC>ccA		dermatan sulfate epimerase							38	39	38					6																	116720686		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720686C>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.273C>A	6.37:g.116720686C>A			Somatic				DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P|DSE_ENST00000537543.1_Silent_p.P110P	p.P91P			WXS	Illumina GAIIx	Phase_I	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)	3	717	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	91					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.273C>A	CCDS5107.1																																																																																				0.562	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		5	53	5	53	---	---	---	---	A	116720686	C	A	116720686	2	1	130	1	0	0	0	0	0	0	0	1	4774	581	21	1		1	DSE	6	116720686	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	6853505	116720686	54394381	102	6006										
SLC35F1	222553	broad.mit.edu	37	chr6	118475607	118475607	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttttcctttatttctcaGggagatgttaatctctgtgg	8	6	2	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.chr6:118475607G>T	ENST00000360388.4	+	2	374		c.e2-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTATTTCTCAGGGAGATGTTA	0.418																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e2-1		solute carrier family 35, member F1							145	138	140					6																	118475607		2203	4300	6503	SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118475607G>T	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.174-1G>T	6.37:g.118475607G>T			Somatic						NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	374	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722437	0.89298	.	.	ENSG00000196376	ENST00000360388	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118582300	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.560000	0.90712	2.865000	0.98341	0.655000	0.94253	.		0.418	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	6	118	6	118	---	---	---	---	T	118475607	G	T	118475607	5	4	130	1	0	0	0	0	0	0	1	0	14588	1014	35	1	179	1	SLC35F1	6	118475607	Splice_Site	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1754921	118475607	52639460	103	6007										
MED23	9439	broad.mit.edu	37	chr6	131939623	131939623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccatgaattacaaatggcaCccgaattatttacaactggc	6	10	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.chr6:131939623C>A	ENST00000368068.3	-	9	883	c.704G>T	c.(703-705)gGt>gTt	p.G235V	MED23_ENST00000539158.1_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000403834.3_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	235					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)		ACAAATGGCACCCGAATTATT	0.368																																						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.(703-705)gGt>gTt		mediator complex subunit 23							96	87	90					6																	131939623		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.chr6:131939623C>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.704G>T	6.37:g.131939623C>A	ENSP00000357047:p.Gly235Val		Somatic				MED23_ENST00000368068.3_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000539158.1_Missense_Mutation_p.G235V	p.G235V			WXS	Illumina GAIIx	Phase_I	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	9	877	-	Breast(56;0.0753)		235					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.704G>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667717	0.88348	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.959;0.931	T	0.82860	-0.0248	10	0.66056	D	0.02	-15.6603	19.3773	0.94517	0.0:1.0:0.0:0.0	.	235;235;235	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	V	235	ENSP00000346588:G235V;ENSP00000357047:G235V;ENSP00000384536:G235V;ENSP00000357039:G235V;ENSP00000357037:G235V;ENSP00000357032:G235V;ENSP00000437818:G235V;ENSP00000445072:G235V	ENSP00000346588:G235V	G	-	2	0	MED23	131981316	1.000000	0.71417	0.161000	0.22692	0.962000	0.63368	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	GGT		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			5	27	5	27	---	---	---	---	A	131939623	C	A	131939623	3	1	130	1	0	0	0	0	1	0	0	0	9441	507	18	3	3515	3	MED23	6	131939623	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	13464016	131939623	39175444	104	6008										
TXLNB	167838	broad.mit.edu	37	chr6	139564168	139564168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtttctttggactggtgcGgggttgactctggatgatga	17	5	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.chr6:139564168G>T	ENST00000358430.3	-	10	1782	c.1550C>A	c.(1549-1551)cCg>cAg	p.P517Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	517						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)		GGACTGGTGCGGGGTTGACTC	0.527																																						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.(1549-1551)cCg>cAg		taxilin beta							125	132	130					6																	139564168		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564168G>T		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.1550C>A	6.37:g.139564168G>T	ENSP00000351206:p.Pro517Gln		Somatic				RP1-225E12.3_ENST00000585874.1_RNA	p.P517Q	NM_153235.3	NP_694967.3	WXS	Illumina GAIIx	Phase_I	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1782	-			517					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1550C>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249585	0.22880	.	.	ENSG00000164440	ENST00000358430	T	0.13307	2.6	5.85	-7.05	0.01573	.	1.316900	0.04841	N	0.440459	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.20164	0.042	B	0.12156	0.007	T	0.41910	-0.9482	9	.	.	.	1.5468	3.1803	0.06582	0.2588:0.0985:0.4298:0.2129	.	517	Q8N3L3	TXLNB_HUMAN	Q	517	ENSP00000351206:P517Q	.	P	-	2	0	TXLNB	139605861	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.847000	0.04168	-0.897000	0.02905	CCG		0.527	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		7	215	7	215	---	---	---	---	T	139564168	G	T	139564168	3	4	130	1	0	0	0	0	1	0	0	0	16785	1116	39	1	508	1	TXLNB	6	139564168	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	7624545	139564168	31550899	105	6009										
HIVEP2	3097	broad.mit.edu	37	chr6	143081332	143081332	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctgggagaggagcttggCtctgaaggtagcatgcactc	14	10	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.chr6:143081332C>A	ENST00000367604.1	-	8	6732	c.6093G>T	c.(6091-6093)gaG>gaT	p.E2031D	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E2031D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2031					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)		AGGAGCTTGGCTCTGAAGGTA	0.483																																					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.(6091-6093)gaG>gaT		human immunodeficiency virus type I enhancer binding protein 2							207	191	196					6																	143081332		1969	4176	6145	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081332C>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.6093G>T	6.37:g.143081332C>A	ENSP00000356576:p.Glu2031Asp		Somatic				HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2031D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D	p.E2031D	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6835	-			2031					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6093G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582394	0.28180	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02345	4.33;4.33;4.33	5.87	2.62	0.31277	.	0.193098	0.53938	N	0.000055	T	0.00552	0.0018	N	0.14661	0.345	0.37115	D	0.900544	B	0.09022	0.002	B	0.09377	0.004	T	0.47262	-0.9131	10	0.23302	T	0.38	-27.3686	2.551	0.04749	0.2286:0.4627:0.1123:0.1965	.	2031	P31629	ZEP2_HUMAN	D	2031	ENSP00000356576:E2031D;ENSP00000356575:E2031D;ENSP00000012134:E2031D	ENSP00000012134:E2031D	E	-	3	2	HIVEP2	143123025	0.079000	0.21365	0.997000	0.53966	0.974000	0.67602	-0.532000	0.06164	0.787000	0.33731	0.585000	0.79938	GAG		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			6	193	6	193	---	---	---	---	A	143081332	C	A	143081332	3	1	130	1	0	0	0	0	1	0	0	0	7187	796	28	3	1255	3	HIVEP2	6	143081332	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3517164	143081332	28033735	106	6010										
ARID1B	57492	broad.mit.edu	37	chr6	157511228	157511228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgagtgattcatccttccCgaaacggaactccatgactc	8	12	1	3	rs150196933		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.chr6:157511228C>A	ENST00000350026.5	+	14	3708	c.3707C>A	c.(3706-3708)cCg>cAg	p.P1236Q	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1249Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1236					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)	p.P1231Q(1)|p.P1249Q(1)		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)		TCATCCTTCCCGAAACGGAAC	0.512																																						ENST00000346085.5																			2	Substitution - Missense(2)	p.P1231Q(1)|p.P1249Q(1)	lung(2)	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.(3745-3747)cCg>cAg		AT rich interactive domain 1B (SWI1-like)							160	156	157					6																	157511228		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.chr6:157511228C>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.3707C>A	6.37:g.157511228C>A	ENSP00000055163:p.Pro1236Gln		Somatic				ARID1B_ENST00000350026.5_Missense_Mutation_p.P1236Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	p.P1249Q	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	15	3747	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1236					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3746C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379547	0.42207	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02050	4.85;4.83;4.8;4.82;4.48	5.95	5.95	0.96441	.	0.123261	0.56097	D	0.000030	T	0.00608	0.0020	N	0.03608	-0.345	0.52099	D	0.999948	B;B;B	0.18610	0.017;0.029;0.029	B;B;B	0.15870	0.006;0.014;0.014	T	0.61367	-0.7077	10	0.17832	T	0.49	.	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	1236;1249;1231	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	Q	1249;1236;1289;1231;758	ENSP00000344546:P1249Q;ENSP00000055163:P1236Q;ENSP00000356116:P1289Q;ENSP00000275248:P1231Q;ENSP00000412835:P758Q	ENSP00000275248:P1231Q	P	+	2	0	ARID1B	157552920	0.962000	0.33011	0.969000	0.41365	0.867000	0.49689	2.425000	0.44723	2.824000	0.97209	0.655000	0.94253	CCG		0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	229	6	229	---	---	---	---	A	157511228	C	A	157511228	3	1	130	1	0	0	0	0	1	0	0	0	914	652	23	1	3804	1	ARID1B	6	157511228	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	14429896	157511228	13603839	107	6011										
ARID1B	57492	broad.mit.edu	37	chr6	157528693	157528693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcttttatcgaaccttgccCaaggggacgcactagcagca	10	13	0	0			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.chr6:157528693C>A	ENST00000350026.5	+	19	6380	c.6379C>A	c.(6379-6381)Caa>Aaa	p.Q2127K	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q2140K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2127					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)		GAACCTTGCCCAAGGGGACGC	0.498																																						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.(6418-6420)Caa>Aaa		AT rich interactive domain 1B (SWI1-like)							161	162	162					6																	157528693		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.chr6:157528693C>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.6379C>A	6.37:g.157528693C>A	ENSP00000055163:p.Gln2127Lys		Somatic				ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2127K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	p.Q2140K	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6419	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2127					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6418C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286377	0.40494	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.46	4.59	0.56863	Armadillo-like helical (1);	0.051749	0.85682	D	0.000000	T	0.47710	0.1460	M	0.75447	2.3	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.996;0.996	P;P;P	0.62885	0.908;0.851;0.851	T	0.54892	-0.8225	10	0.59425	D	0.04	.	14.4632	0.67465	0.0:0.9291:0.0:0.0709	.	2127;2140;2122	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	2140;2127;2180;2122;1649	ENSP00000344546:Q2140K;ENSP00000055163:Q2127K;ENSP00000356116:Q2180K;ENSP00000275248:Q2122K;ENSP00000412835:Q1649K	ENSP00000275248:Q2122K	Q	+	1	0	ARID1B	157570385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	1.426000	0.47256	0.655000	0.94253	CAA		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		8	307	8	307	---	---	---	---	A	157528693	C	A	157528693	3	1	130	1	0	0	0	0	1	0	0	0	914	595	21	1	6496	1	ARID1B	6	157528693	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	17465	157528693	13586374	108	6012										
KIF25	3834	broad.mit.edu	37	chr6	168431490	168431490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtctcagagcgcggtctttGgagatgtgtgccccctactc	12	12	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.chr6:168431490G>T	ENST00000443060.2	+	4	521	c.130G>T	c.(130-132)Gga>Tga	p.G44*	KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	44	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)			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)		CGCGGTCTTTGGAGATGTGTG	0.428																																						ENST00000443060.2																			0				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.(130-132)Gga>Tga		kinesin family member 25							144	148	146					6																	168431490		2203	4300	6503	SO:0001587	stop_gained	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168431490G>T	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.130G>T	6.37:g.168431490G>T	ENSP00000388878:p.Gly44*		Somatic				KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*	p.G44*			WXS	Illumina GAIIx	Phase_I	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)	4	521	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	44			Kinesin-motor.		O94775|Q5SZU9	Nonsense_Mutation	SNP	ENST00000443060.2	37	c.130G>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121462	0.77436	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	.	.	.	4.36	4.36	0.52297	.	0.622761	0.15272	N	0.271196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-27.1699	8.3517	0.32305	0.1105:0.0:0.8895:0.0	.	.	.	.	X	44	.	ENSP00000252688:G44X	G	+	1	0	KIF25	168174339	0.898000	0.30612	0.037000	0.18230	0.041000	0.13682	1.850000	0.39328	1.947000	0.56498	0.591000	0.81541	GGA		0.428	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			6	129	6	129	---	---	---	---	T	168431490	G	T	168431490	4	4	130	1	0	0	0	0	0	1	0	0	8293	1349	47	1	136	1	KIF25	6	168431490	Nonsense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	10902797	168431490	2683577	109	6013										
MAD1L1	8379	broad.mit.edu	37	chr7	2041727	2041727	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctctttgtttctggcctccCagctcctccagggcctgcga	10	16	2	0			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.chr7:2041727C>A	ENST00000406869.1	-	14	1946	c.1389G>T	c.(1387-1389)ctG>ctT	p.L463L	MAD1L1_ENST00000265854.7_Silent_p.L463L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000402746.1_Silent_p.L371L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	463	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)		TCTGGCCTCCCAGCTCCTCCA	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1387-1389)ctG>ctT		MAD1 mitotic arrest deficient-like 1 (yeast)							135	156	149					7																	2041727		2073	4213	6286	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.chr7:2041727C>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.1389G>T	7.37:g.2041727C>A			Somatic				MAD1L1_ENST00000402746.1_Silent_p.L371L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000265854.7_Silent_p.L463L	p.L463L			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	14	1946	-		Ovarian(82;0.0272)	463			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1389G>T	CCDS43539.1																																																																																				0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		7	235	7	235	---	---	---	---	A	2041727	C	A	2041727	2	1	130	1	0	0	0	0	0	0	0	1	9147	581	21	1		1	MAD1L1	7	2041727	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		2041727	157096936	110	6014										
AMZ1	155185	broad.mit.edu	37	chr7	2740198	2740198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatgtgtccgccttctcccCtgccgagcggctcttcctgg	11	16	2	0			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.chr7:2740198C>A	ENST00000312371.4	+	2	481	c.113C>A	c.(112-114)cCt>cAt	p.P38H	AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	38							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)		GCCTTCTCCCCTGCCGAGCGG	0.667																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(112-114)cCt>cAt		archaelysin family metallopeptidase 1							113	122	119					7																	2740198		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740198C>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.113C>A	7.37:g.2740198C>A	ENSP00000308149:p.Pro38His		Somatic				AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	p.P38H	NM_133463.1	NP_597720.1	WXS	Illumina GAIIx	Phase_I	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	481	+		Ovarian(82;0.0779)	38					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.113C>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651600	0.47362	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32515	1.92;1.45	4.34	2.37	0.29283	.	0.320653	0.22405	N	0.060488	T	0.37293	0.0998	L	0.59436	1.845	0.26258	N	0.978612	D;P	0.59767	0.986;0.875	P;B	0.56865	0.808;0.436	T	0.20739	-1.0266	10	0.72032	D	0.01	-32.6788	2.7287	0.05221	0.1579:0.4877:0.2468:0.1076	.	38;38	B3KRS0;Q400G9	.;AMZ1_HUMAN	H	38	ENSP00000308149:P38H;ENSP00000386020:P38H	ENSP00000308149:P38H	P	+	2	0	AMZ1	2706724	0.771000	0.28555	0.689000	0.30133	0.398000	0.30690	1.076000	0.30729	0.820000	0.34516	0.561000	0.74099	CCT		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	228	7	228	---	---	---	---	A	2740198	C	A	2740198	3	1	130	1	0	0	0	0	1	0	0	0	596	681	24	1	115	1	AMZ1	7	2740198	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	698471	2740198	156398465	111	6015										
DFNA5	1687	broad.mit.edu	37	chr7	24758794	24758794	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacaggacctcattccttcCttccagcacctgctggagca	8	16	1	0	rs78941420		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.chr7:24758794C>A	ENST00000342947.3	-	4	873	c.448G>T	c.(448-450)Gga>Tga	p.G150*	DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000545231.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	150					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						TCATTCCTTCCTTCCAGCACC	0.493																																					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								deafness, autosomal dominant 5							165	145	152					7																	24758794		2203	4300	6503	SO:0001587	stop_gained	1687				sensory perception of sound			g.chr7:24758794C>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.448G>T	7.37:g.24758794C>A	ENSP00000339587:p.Gly150*		Somatic				DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR				WXS	Illumina GAIIx	Phase_I	O60443	DFNA5_HUMAN			0	1106	-								A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Translation_Start_Site	SNP	ENST00000342947.3	37		CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853769	0.32791	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	.	.	.	5.17	2.85	0.33270	.	0.549911	0.21161	N	0.079148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.6348	7.0005	0.24807	0.0:0.1964:0.0:0.8036	.	.	.	.	X	150	.	ENSP00000339587:G150X	G	-	1	0	DFNA5	24725319	0.449000	0.25689	0.787000	0.31911	0.010000	0.07245	0.704000	0.25661	0.825000	0.34637	-0.302000	0.09304	GGA		0.493	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		6	128	6	128	---	---	---	---	A	24758794	C	A	24758794	4	1	130	1	0	0	0	0	0	1	0	0	4454	690	24	1	1070	1	DFNA5	7	24758794	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	22018596	24758794	134379869	112	6016										
POM121L12	285877	broad.mit.edu	37	chr7	53104001	53104001	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggcggaacctgcagcccCggccctctgccttcaagccc	11	19	2	0			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.chr7:53104001C>A	ENST00000408890.4	+	1	653	c.637C>A	c.(637-639)Cgg>Agg	p.R213R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(637-639)Cgg>Agg		POM121 transmembrane nucleoporin-like 12							45	55	52					7																	53104001		1974	4130	6104	SO:0001819	synonymous_variant	285877							g.chr7:53104001C>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.637C>A	7.37:g.53104001C>A			Somatic					p.R213R	NM_182595.3	NP_872401.3	WXS	Illumina GAIIx	Phase_I	Q8N7R1	P1L12_HUMAN			1	653	+			213					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.637C>A	CCDS43584.1																																																																																				0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	111	5	111	---	---	---	---	A	53104001	C	A	53104001	2	1	130	1	0	0	0	0	0	0	0	1	12241	643	23	1		1	POM121L12	7	53104001	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	28345207	53104001	106034662	113	6017										
FAM133B	257415	broad.mit.edu	37	chr7	92219586	92219586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggctgagtactcaccaccCgattgtcccgcttccccatg	8	18	1	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.chr7:92219586C>A	ENST00000445716.1	-	1	122	c.20G>T	c.(19-21)cGg>cTg	p.R7L	FAM133B_ENST00000427372.1_5'Flank|FAM133B_ENST00000438306.1_5'UTR	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	7							poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTCACCACCCGATTGTCCCG	0.697											OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000445716.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(19-21)cGg>cTg		family with sequence similarity 133, member B							40	43	42					7																	92219586		1952	4126	6078	SO:0001583	missense	257415							g.chr7:92219586C>A		CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.20G>T	7.37:g.92219586C>A	ENSP00000398401:p.Arg7Leu		Somatic	OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1288	FAM133B_ENST00000438306.1_5'UTR	p.R7L	NM_152789.2	NP_690002.2	WXS	Illumina GAIIx	Phase_I	Q5BKY9	F133B_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		1	122	-	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		7					B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	ENST00000445716.1	37	c.20G>T	CCDS47640.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525069	0.64747	.	.	ENSG00000234545	ENST00000445716	T	0.39787	1.06	4.76	3.88	0.44766	.	.	.	.	.	T	0.52322	0.1727	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	P	0.55112	0.769	T	0.57900	-0.7731	9	0.87932	D	0	0.0076	12.9297	0.58280	0.0:0.9203:0.0:0.0797	.	7	Q5BKY9	F133B_HUMAN	L	7	ENSP00000398401:R7L	ENSP00000389559:R7L	R	-	2	0	FAM133B	92057522	0.998000	0.40836	0.934000	0.37439	0.467000	0.32768	4.538000	0.60650	1.372000	0.46190	0.555000	0.69702	CGG		0.697	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342181.2	NM_001040057		4	72	4	72	---	---	---	---	A	92219586	C	A	92219586	3	1	130	1	0	0	0	0	1	0	0	0	5444	652	23	1	767	1	FAM133B	7	92219586	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	39115585	92219586	66919077	114	6018										
PEG10	23089	broad.mit.edu	37	chr7	94293631	94293631	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaagccacgctcgccacccCgggcgctggtgttgcctcac	12	18	1	0			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.chr7:94293631C>A	ENST00000482108.1	+	2	1242	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	PEG10_ENST00000488574.1_Silent_p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	255	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)			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)			CTCGCCACCCCGGGCGCTGGT	0.622																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(763-765)Cgg>Agg		paternally expressed 10							15	19	18					7																	94293631		2054	4198	6252	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.chr7:94293631C>A	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.763C>A	7.37:g.94293631C>A			Somatic				PEG10_ENST00000488574.1_Silent_p.R255R	p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	WXS	Illumina GAIIx	Phase_I	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1242	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		255			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.763C>A	CCDS55126.1																																																																																				0.622	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		4	24	4	24	---	---	---	---	A	94293631	C	A	94293631	2	1	130	1	0	0	0	0	0	0	0	1	11719	652	23	1		1	PEG10	7	94293631	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2074045	94293631	64845032	115	6019										
CYP3A43	64816	broad.mit.edu	37	chr7	99457531	99457531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaactagcaccactctccCcttcattatgtatgaactgg	5	14	2	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.chr7:99457531C>A	ENST00000354829.2	+	10	1047	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	315			Missing (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)			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)	ACCACTCTCCCCTTCATTATG	0.463																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(943-945)cCc>cAc		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						183	167	173					7																	99457531		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99457531C>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.944C>A	7.37:g.99457531C>A	ENSP00000346887:p.Pro315His		Somatic				CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H	p.P315H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	WXS	Illumina GAIIx	Phase_I	Q9HB55	CP343_HUMAN			10	1047	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		315		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.944C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090952	0.36855	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	2.49	2.49	0.30216	.	0.612194	0.16636	N	0.205875	T	0.46073	0.1374	N	0.03608	-0.345	0.24677	N	0.993388	P;P;P;P;P	0.48764	0.898;0.915;0.555;0.609;0.609	P;B;B;B;B	0.45343	0.477;0.414;0.095;0.153;0.153	T	0.45396	-0.9264	10	0.87932	D	0	.	11.0606	0.47944	0.0:1.0:0.0:0.0	.	205;175;315;315;315	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	H	315;205;175;62;104;315;315	ENSP00000346887:P315H;ENSP00000416581:P205H;ENSP00000345351:P175H;ENSP00000405557:P62H;ENSP00000401521:P104H;ENSP00000312110:P315H;ENSP00000222382:P315H	ENSP00000222382:P315H	P	+	2	0	CYP3A43	99295467	0.002000	0.14202	0.116000	0.21606	0.888000	0.51559	1.705000	0.37867	1.694000	0.51137	0.205000	0.17691	CCC		0.463	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			6	153	6	153	---	---	---	---	A	99457531	C	A	99457531	3	1	130	1	0	0	0	0	1	0	0	0	4179	623	22	1	982	1	CYP3A43	7	99457531	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5163900	99457531	59681132	116	6020										
MUC17	140453	broad.mit.edu	37	chr7	100674448	100674448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggaggagggtgcatctccCaaggggacgtcttgaaccgt	15	9	2	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.chr7:100674448C>A	ENST00000306151.4	+	2	194	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	44					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)					GTGCATCTCCCAAGGGGACGT	0.537																																						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.(130-132)Caa>Aaa		mucin 17, cell surface associated							213	178	190					7																	100674448		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674448C>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.130C>A	7.37:g.100674448C>A	ENSP00000302716:p.Gln44Lys		Somatic					p.Q44K	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	194	+	Lung NSC(181;0.136)|all_lung(186;0.182)		44					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.130C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.625	0.300083	0.10622	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.9	-0.186	0.13272	.	.	.	.	.	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.25884	0.064	T	0.44003	-0.9356	9	0.09084	T	0.74	.	3.9886	0.09527	0.2742:0.4568:0.2689:0.0	.	44	Q685J3	MUC17_HUMAN	K	44	ENSP00000302716:Q44K	ENSP00000302716:Q44K	Q	+	1	0	MUC17	100461168	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.314000	0.19432	-0.048000	0.13401	0.502000	0.49764	CAA		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	190	6	190	---	---	---	---	A	100674448	C	A	100674448	3	1	130	1	0	0	0	0	1	0	0	0	9974	595	21	1	136	1	MUC17	7	100674448	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1216917	100674448	58464215	117	6021										
RELN	5649	broad.mit.edu	37	chr7	103234873	103234873	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtcctcccctgagaacacGggctgccaccagcggaacct	10	16	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.chr7:103234873G>T	ENST00000428762.1	-	26	3765	c.3606C>A	c.(3604-3606)ccC>ccA	p.P1202P	RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1202					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)		CTGAGAACACGGGCTGCCACC	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.(3604-3606)ccC>ccA		reelin							182	181	181					7																	103234873		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.chr7:103234873G>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.3606C>A	7.37:g.103234873G>T			Somatic				RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	p.P1202P	NM_005045.3	NP_005036.2	WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3765	-			1202					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3606C>A	CCDS47680.1																																																																																				0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	283	6	283	---	---	---	---	T	103234873	G	T	103234873	2	4	130	1	0	0	0	0	0	0	0	1	13220	1103	39	1		1	RELN	7	103234873	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2560425	103234873	55903790	118	6022										
RBM28	55131	broad.mit.edu	37	chr7	127954917	127954917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcagccttggtctggaaccCggtccatgaggtagagcccg	13	12	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.chr7:127954917C>A	ENST00000223073.2	-	17	2059	c.1945G>T	c.(1945-1947)Ggg>Tgg	p.G649W	RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	649					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						GTCTGGAACCCGGTCCATGAG	0.567																																						ENST00000223073.2																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1945-1947)Ggg>Tgg		RNA binding motif protein 28							189	184	186					7																	127954917		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954917C>A	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.1945G>T	7.37:g.127954917C>A	ENSP00000223073:p.Gly649Trp		Somatic				RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	p.G649W	NM_018077.2	NP_060547.2	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			17	2059	-								A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1945G>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457259	0.84317	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.22539	2.9;1.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.70275	2.135	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	T	0.38178	-0.9673	10	0.87932	D	0	-22.4045	18.3732	0.90420	0.0:1.0:0.0:0.0	.	508;649;508	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	W	649;508	ENSP00000223073:G649W;ENSP00000390517:G508W	ENSP00000223073:G649W	G	-	1	0	RBM28	127742153	0.999000	0.42202	0.475000	0.27278	0.052000	0.14988	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	GGG		0.567	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		7	305	7	305	---	---	---	---	A	127954917	C	A	127954917	3	1	130	1	0	0	0	0	1	0	0	0	13128	652	23	1	346	1	RBM28	7	127954917	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	24720044	127954917	31183746	119	6023										
CALD1	800	broad.mit.edu	37	chr7	134650097	134650097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccagcaagcggaacctctGggaaaagcaatctgtggata	11	9	2	0			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.chr7:134650097G>T	ENST00000361675.2	+	14	2565	c.2336G>T	c.(2335-2337)tGg>tTg	p.W779L	CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L|CALD1_ENST00000361388.2_Missense_Mutation_p.W550L			Q05682	CALD1_HUMAN	caldesmon 1	779	Weak actin-binding. {ECO:0000250}.				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						CGGAACCTCTGGGAAAAGCAA	0.428																																						ENST00000361388.2																			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.(1648-1650)tGg>tTg		caldesmon 1							155	147	150					7																	134650097		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134650097G>T	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.2336G>T	7.37:g.134650097G>T	ENSP00000354826:p.Trp779Leu		Somatic				CALD1_ENST00000361675.2_Missense_Mutation_p.W779L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L	p.W550L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	WXS	Illumina GAIIx	Phase_I	Q05682	CALD1_HUMAN			14	2115	+			779					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1649G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002593	0.93227	.	.	ENSG00000122786	ENST00000417172;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;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;-0.5	5.93	5.93	0.95920	.	0.000000	0.49305	D	0.000150	D	0.86460	0.5938	M	0.82517	2.595	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.998;0.99;0.99;0.994;0.996;0.996	D	0.86976	0.2101	10	0.72032	D	0.01	-13.0914	20.3465	0.98790	0.0:0.0:1.0:0.0	.	473;529;549;543;518;544;524;550;779	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682	.;.;.;.;.;.;.;.;CALD1_HUMAN	L	524;550;549;779;524;544;518;543;529	ENSP00000398826:W524L;ENSP00000355000:W550L;ENSP00000395710:W549L;ENSP00000354826:W779L;ENSP00000354513:W524L;ENSP00000376826:W544L;ENSP00000393621:W518L;ENSP00000419673:W543L;ENSP00000445641:W529L	ENSP00000355000:W550L	W	+	2	0	CALD1	134300637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.151000	0.89636	2.798000	0.96311	0.655000	0.94253	TGG		0.428	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		7	178	7	178	---	---	---	---	T	134650097	G	T	134650097	3	4	130	1	0	0	0	0	1	0	0	0	2581	1357	47	1	2439	1	CALD1	7	134650097	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	6695180	134650097	24488566	120	6024										
SLC37A3	84255	broad.mit.edu	37	chr7	140043268	140043268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaattcctgtgacagtggCcaaagcttcactgctccttt	7	13	1	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.chr7:140043268C>A	ENST00000326232.9	-	13	1473	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S|SLC37A3_ENST00000340308.3_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	424					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGACAGTGGCCAAAGCTTCA	0.507																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(1270-1272)Gcc>Tcc		solute carrier family 37, member 3							129	112	118					7																	140043268		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140043268C>A	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"Solute carriers"	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1270G>T	7.37:g.140043268C>A	ENSP00000321498:p.Ala424Ser		Somatic				SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S	p.A424S	NM_207113.1	NP_996996.1	WXS	Illumina GAIIx	Phase_I	Q8NCC5	SPX3_HUMAN			13	1473	-	Melanoma(164;0.0142)		424					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.1270G>T	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120841|3.120841	0.56613|0.56613	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000447932;ENST00000326232;ENST00000469636;ENST00000498469|ENST00000485538;ENST00000477006	T;T;T|.	0.60299|.	0.2;0.2;0.2|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.104922|.	0.64402|.	D|.	0.000004|.	T|T	0.70745|0.70745	0.3259|0.3259	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30634|.	0.005;0.012;0.288|.	B;B;B|.	0.34418|.	0.099;0.046;0.182|.	T|T	0.66480|0.66480	-0.5913|-0.5913	10|5	0.19590|.	T|.	0.45|.	-50.6255|-50.6255	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	408;424;36|.	Q8NCC5-2;Q8NCC5;B3KX37|.	.;SPX3_HUMAN;.|.	S|C	408;424;8;63|21;61	ENSP00000397481:A408S;ENSP00000321498:A424S;ENSP00000418158:A63S|.	ENSP00000321498:A424S|.	A|W	-|-	1|3	0|0	SLC37A3|SLC37A3	139689737|139689737	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.736000|0.736000	0.42039|0.42039	5.986000|5.986000	0.70563|0.70563	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.507	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		5	101	5	101	---	---	---	---	A	140043268	C	A	140043268	3	1	130	1	0	0	0	0	1	0	0	0	14599	739	26	3	375	3	SLC37A3	7	140043268	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5393171	140043268	19095395	121	6025										
TMUB1	83590	broad.mit.edu	37	chr7	150779364	150779364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggctcctgcggggagtccGgggctggcggtgttgctgtg	22	9	0	0	rs146736140		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.chr7:150779364G>T	ENST00000392818.3	-	2	644	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|FASTK_ENST00000489884.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	96						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGAGTCCGGGGCTGGCGG	0.647																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(286-288)cCg>cAg		transmembrane and ubiquitin-like domain containing 1							99	122	114					7																	150779364		2203	4300	6503	SO:0001583	missense	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779364G>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"chromosome 7 open reading frame 21"	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.287C>A	7.37:g.150779364G>T	ENSP00000376565:p.Pro96Gln		Somatic				TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	p.P96Q	NM_031434.3	NP_113622.1	WXS	Illumina GAIIx	Phase_I	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	644	-			96					D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	c.287C>A	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	G	5.611	0.297437	0.10622	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.98	2.19	0.27852	.	0.439020	0.19721	N	0.107599	T	0.31136	0.0787	L	0.33485	1.01	0.09310	N	1	D	0.57899	0.981	P	0.47528	0.549	T	0.11494	-1.0585	10	0.18710	T	0.47	-1.1396	6.4156	0.21715	0.3804:0.0:0.6196:0.0	.	96	Q9BVT8	TMUB1_HUMAN	Q	96	ENSP00000297533:P96Q;ENSP00000376565:P96Q;ENSP00000417519:P96Q;ENSP00000418709:P96Q;ENSP00000419214:P96Q;ENSP00000420692:P96Q;ENSP00000420516:P96Q	ENSP00000297533:P96Q	P	-	2	0	TMUB1	150410297	0.473000	0.25878	0.239000	0.24122	0.248000	0.25809	0.799000	0.27028	0.509000	0.28195	-0.708000	0.03648	CCG		0.647	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		8	262	8	262	---	---	---	---	T	150779364	G	T	150779364	3	4	130	1	0	0	0	0	1	0	0	0	16261	1116	39	1	461	1	TMUB1	7	150779364	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	10736096	150779364	8359299	122	6026										
AGPAT5	55326	broad.mit.edu	37	chr8	6605324	6605324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaaagacgatggagggcaGcgaagagagtcaccgaccat	16	8	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.chr8:6605324G>T	ENST00000285518.6	+	6	1032	c.720G>T	c.(718-720)caG>caT	p.Q240H	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	240					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)		ATGGAGGGCAGCGAAGAGAGT	0.413																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(718-720)caG>caT		1-acylglycerol-3-phosphate O-acyltransferase 5							106	101	103					8																	6605324		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6605324G>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.720G>T	8.37:g.6605324G>T	ENSP00000285518:p.Gln240His		Somatic				AGPAT5_ENST00000530716.1_3'UTR	p.Q240H	NM_018361.3	NP_060831.2	WXS	Illumina GAIIx	Phase_I	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	6	1032	+			240					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.720G>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633174	0.29068	.	.	ENSG00000155189	ENST00000285518	T	0.63417	-0.04	5.12	3.31	0.37934	.	0.176285	0.50627	D	0.000106	T	0.60983	0.2311	M	0.70595	2.14	0.46203	D	0.99892	P	0.44344	0.833	P	0.46685	0.524	T	0.55573	-0.8120	10	0.21014	T	0.42	-14.7752	6.9723	0.24656	0.288:0.0:0.712:0.0	.	240	Q9NUQ2	PLCE_HUMAN	H	240	ENSP00000285518:Q240H	ENSP00000285518:Q240H	Q	+	3	2	AGPAT5	6592732	1.000000	0.71417	0.807000	0.32361	0.036000	0.12997	1.037000	0.30241	0.648000	0.30732	0.655000	0.94253	CAG		0.413	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		8	78	8	78	---	---	---	---	T	6605324	G	T	6605324	3	4	130	1	0	0	0	0	1	0	0	0	390	962	34	3	742	3	AGPAT5	8	6605324	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		6605324	139758698	123	6027										
TOX	9760	broad.mit.edu	37	chr8	59720736	59720736	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggggaggatttctgcacccCgaacgcacatactccattgc	11	13	1	0			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.chr8:59720736C>A	ENST00000361421.1	-	8	1705	c.1485G>T	c.(1483-1485)tcG>tcT	p.S495S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	495						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S495S(1)		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)				TTCTGCACCCCGAACGCACAT	0.532											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			1	Substitution - coding silent(1)	p.S495S(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1483-1485)tcG>tcT		thymocyte selection-associated high mobility group box							118	112	114					8																	59720736		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59720736C>A		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.1485G>T	8.37:g.59720736C>A			Somatic	OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.S495S	NM_014729.2	NP_055544.1	WXS	Illumina GAIIx	Phase_I	O94900	TOX_HUMAN			8	1705	-		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)	495					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1485G>T	CCDS34897.1																																																																																				0.532	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		4	78	4	78	---	---	---	---	A	59720736	C	A	59720736	2	1	130	1	0	0	0	0	0	0	0	1	16374	639	23	1		1	TOX	8	59720736	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	53115412	59720736	86643286	124	6028										
HSF1	3297	broad.mit.edu	37	chr8	145537689	145537689	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggagccccccaggcctccCgaggcagagaacagcagccc	12	18	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.chr8:145537689C>A	ENST00000528838.1	+	12	1516	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Silent_p.P393P|DGAT1_ENST00000527438.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	452	Transactivation 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)			CCAGGCCTCCCGAGGCAGAGA	0.692																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1354-1356)ccC>ccA		heat shock transcription factor 1							39	48	45					8																	145537689		2200	4296	6496	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145537689C>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.1356C>A	8.37:g.145537689C>A			Somatic				HSF1_ENST00000400780.4_Silent_p.P393P|HSF1_ENST00000528842.1_3'UTR	p.P452P	NM_005526.2	NP_005517.1	WXS	Illumina GAIIx	Phase_I	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)		12	1516	+	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)		452			Transactivation domain.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.1356C>A	CCDS6419.1																																																																																				0.692	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		6	69	6	69	---	---	---	---	A	145537689	C	A	145537689	2	1	130	1	0	0	0	0	0	0	0	1	7395	639	23	1		1	HSF1	8	145537689	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	85816953	145537689	826333	125	6029										
GPT	2875	broad.mit.edu	37	chr8	145730203	145730203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgagcagccccaacttccCtgacgatgccaagaaaaggg	10	13	1	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.chr8:145730203C>A	ENST00000528431.1	+	4	459	c.302C>A	c.(301-303)cCt>cAt	p.P101H	GPT_ENST00000394955.2_Missense_Mutation_p.P101H			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	101					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(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)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCCAACTTCCCTGACGATGCC	0.657																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(301-303)cCt>cAt		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						170	191	184					8																	145730203		2203	4300	6503	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730203C>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.302C>A	8.37:g.145730203C>A	ENSP00000433586:p.Pro101His		Somatic				GPT_ENST00000528431.1_Missense_Mutation_p.P101H	p.P101H	NM_005309.2	NP_005300.1	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_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	525	+	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)		101					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.302C>A	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880830	0.72294	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91180	-2.8;-2.8	5.23	5.23	0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97517	1.0070	10	0.87932	D	0	-15.2993	16.2736	0.82632	0.0:1.0:0.0:0.0	.	101;101	B4DPT5;P24298	.;ALAT1_HUMAN	H	101	ENSP00000433586:P101H;ENSP00000378408:P101H	ENSP00000378408:P101H	P	+	2	0	GPT	145701011	1.000000	0.71417	0.946000	0.38457	0.324000	0.28378	6.888000	0.75622	2.431000	0.82371	0.561000	0.74099	CCT		0.657	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			8	339	8	339	---	---	---	---	A	145730203	C	A	145730203	3	1	130	1	0	0	0	0	1	0	0	0	6737	681	24	1	312	1	GPT	8	145730203	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	192514	145730203	633819	126	6030										
PTPRD	5789	broad.mit.edu	37	chr9	8465565	8465565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccataatgcttgtcatccccCagggtgaactcagtgggaag	11	11	2	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.chr9:8465565C>A	ENST00000381196.4	-	29	4158	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L	PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000486161.1_Silent_p.L794L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1205					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)		TGTCATCCCCCAGGGTGAACT	0.433										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.(3613-3615)ctG>ctT		protein tyrosine phosphatase, receptor type, D							167	153	158					9																	8465565		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.chr9:8465565C>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.3615G>T	9.37:g.8465565C>A		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L|PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000486161.1_Silent_p.L794L	p.L1205L	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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)	29	4158	-		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)	1205					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3615G>T	CCDS43786.1																																																																																				0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	101	5	101	---	---	---	---	A	8465565	C	A	8465565	2	1	130	1	0	0	0	0	0	0	0	1	12799	581	21	1		1	PTPRD	9	8465565	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		8465565	132747866	127	6031										
FREM1	158326	broad.mit.edu	37	chr9	14842488	14842488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacattggttatgaggaacgGgggactatcatctttgggca	13	6	2	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.chr9:14842488G>T	ENST00000380880.3	-	9	2347	c.1564C>A	c.(1564-1566)Ccg>Acg	p.P522T	FREM1_ENST00000422223.2_Missense_Mutation_p.P522T|FREM1_ENST00000380881.4_Missense_Mutation_p.P523T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	522					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)		ATGAGGAACGGGGGACTATCA	0.517																																						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.(1567-1569)Ccg>Acg		FRAS1 related extracellular matrix 1							138	139	139					9																	14842488		2035	4184	6219	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842488G>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.1564C>A	9.37:g.14842488G>T	ENSP00000370262:p.Pro522Thr		Somatic				FREM1_ENST00000380880.3_Missense_Mutation_p.P522T|FREM1_ENST00000422223.2_Missense_Mutation_p.P522T	p.P523T			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2382	-			522					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1567C>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834156	0.91036	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.89343	-2.5;-2.5;-2.5	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95436	0.8521	10	0.56958	D	0.05	-11.1608	20.3539	0.98825	0.0:0.0:1.0:0.0	.	522	Q5H8C1	FREM1_HUMAN	T	523;522;522	ENSP00000370263:P523T;ENSP00000412940:P522T;ENSP00000370262:P522T	ENSP00000370257:P525T	P	-	1	0	FREM1	14832488	1.000000	0.71417	0.464000	0.27143	0.992000	0.81027	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CCG		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	128	6	128	---	---	---	---	T	14842488	G	T	14842488	3	4	130	1	0	0	0	0	1	0	0	0	6044	1232	43	1	5141	1	FREM1	9	14842488	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	6376923	14842488	126370943	128	6032										
STOML2	30968	broad.mit.edu	37	chr9	35101709	35101709	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggctcagatctgcttacccGgaagactttgtccagagaga	11	10	2	4	rs200523791		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.chr9:35101709G>T	ENST00000356493.5	-	5	504	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	STOML2_ENST00000452248.2_Silent_p.R148R|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	148					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)			CTGCTTACCCGGAAGACTTTG	0.507																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(442-444)Cgg>Agg		stomatin (EPB72)-like 2							153	158	156					9																	35101709		2203	4300	6503	SO:0001819	synonymous_variant	30968					cytoskeleton	receptor binding	g.chr9:35101709G>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.442C>A	9.37:g.35101709G>T			Somatic				STOML2_ENST00000452248.2_Silent_p.R148R	p.R148R	NM_013442.1	NP_038470.1	WXS	Illumina GAIIx	Phase_I	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	504	-			148					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Silent	SNP	ENST00000356493.5	37	c.442C>A	CCDS6577.1																																																																																				0.507	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		6	229	6	229	---	---	---	---	T	35101709	G	T	35101709	2	4	130	1	0	0	0	0	0	0	0	1	15313	1115	39	1		1	STOML2	9	35101709	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	20259221	35101709	106111722	129	6033										
ECM2	1842	broad.mit.edu	37	chr9	95263191	95263191	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgacaggtacaagtattcCaggcctggttccatgtggcc	11	10	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.chr9:95263191C>A	ENST00000344604.5	-	9	1898	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	583					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						ACAAGTATTCCAGGCCTGGTT	0.478																																						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.(1747-1749)ctG>ctT		extracellular matrix protein 2, female organ and adipocyte specific							157	138	144					9																	95263191		2203	4300	6503	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95263191C>A	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.1749G>T	9.37:g.95263191C>A			Somatic				CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	p.L583L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	WXS	Illumina GAIIx	Phase_I	O94769	ECM2_HUMAN			9	1898	-			583					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.1749G>T	CCDS6698.1																																																																																				0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		6	118	6	118	---	---	---	---	A	95263191	C	A	95263191	2	1	130	1	0	0	0	0	0	0	0	1	4898	581	21	1		1	ECM2	9	95263191	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	60161482	95263191	45950240	130	6034										
ZNF484	83744	broad.mit.edu	37	chr9	95608641	95608641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttccagtttaaggctttccCcaagtcactgcacttatagg	7	12	1	0			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.chr9:95608641C>A	ENST00000375495.3	-	5	2576	c.2428G>T	c.(2428-2430)Ggg>Tgg	p.G810W	ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W|ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.G774W	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	810					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						AAGGCTTTCCCCAAGTCACTG	0.428																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2320-2322)Ggg>Tgg		zinc finger protein 484							216	214	215					9																	95608641		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608641C>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.2428G>T	9.37:g.95608641C>A	ENSP00000364645:p.Gly810Trp		Somatic				ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ZNF484_ENST00000375495.3_Missense_Mutation_p.G810W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W	p.G774W	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	WXS	Illumina GAIIx	Phase_I	Q5JVG2	ZN484_HUMAN			3	2412	-			810					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2320G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	8.453	0.853512	0.17106	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	2.5	-2.25	0.06888	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49677	0.1571	N	0.08118	0	0.21445	N	0.999682	D;D	0.64830	0.994;0.994	P;P	0.60886	0.88;0.88	T	0.53187	-0.8474	9	0.87932	D	0	.	10.0974	0.42484	0.0:0.6229:0.0:0.3771	.	812;810	B4DRI2;Q5JVG2	.;ZN484_HUMAN	W	774;812;810;774	ENSP00000378881:G774W;ENSP00000378882:G812W;ENSP00000364645:G810W;ENSP00000364646:G774W	ENSP00000364646:G774W	G	-	1	0	ZNF484	94648462	0.905000	0.30787	0.024000	0.17045	0.326000	0.28443	0.707000	0.25704	-1.019000	0.03358	-1.183000	0.01708	GGG		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		8	242	8	242	---	---	---	---	A	95608641	C	A	95608641	3	1	130	1	0	0	0	0	1	0	0	0	17934	623	22	1	134	1	ZNF484	9	95608641	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	345450	95608641	45604790	131	6035										
C9orf4	23732	broad.mit.edu	37	chr9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctgtgtctgcactcagcTcaaattctacatcagcccct	5	15	6	0			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																																						ENST00000561981.2																			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		Somatic					p.E186G	NM_014334.2	NP_055149.2	WXS	Illumina GAIIx	Phase_I	Q9P0K9	CI004_HUMAN			3	556	-						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	3	112	---	---	---	---	C	111909389	T	C	111909389	3	2	130	1	0	0	0	0	1	0	0	0	2480	1551	54	2	489	2	C9orf4	9	111909389	Missense_Mutation	SNP	T	TCGA-G9-6351-01A-21D-1961-08	16300748	111909389	29304042	132	6036										
GARNL3	84253	broad.mit.edu	37	chr9	130152979	130152979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaggccaaatcaaaacccCggaagcggttagaagaaagc	10	10	1	2	rs143165320	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.chr9:130152979C>A	ENST00000373387.4	+	27	3155	c.2803C>A	c.(2803-2805)Cgg>Agg	p.R935R	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	935					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						ATCAAAACCCCGGAAGCGGTT	0.572																																						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.(2803-2805)Cgg>Agg		GTPase activating Rap/RanGAP domain-like 3							91	104	99					9																	130152979		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130152979C>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.2803C>A	9.37:g.130152979C>A			Somatic				GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	p.R935R	NM_032293.4	NP_115669.3	WXS	Illumina GAIIx	Phase_I	Q5VVW2	GARL3_HUMAN			27	3155	+			935					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.2803C>A	CCDS6869.2																																																																																				0.572	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		5	169	5	169	---	---	---	---	A	130152979	C	A	130152979	2	1	130	1	0	0	0	0	0	0	0	1	6241	643	23	1		1	GARNL3	9	130152979	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	18243590	130152979	11060452	133	6037										
GOLGA2	2801	broad.mit.edu	37	chr9	131022413	131022413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcttctttcccagctccCtcttgacgtgctgctccgac	7	18	2	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.chr9:131022413C>A	ENST00000421699.2	-	18	1745	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	578					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						TCCCAGCTCCCTCTTGACGTG	0.602																																						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.(1732-1734)aGg>aTg		golgin A2							113	107	109					9																	131022413		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022413C>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.1733G>T	9.37:g.131022413C>A	ENSP00000416097:p.Arg578Met		Somatic				GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M	p.R578M	NM_004486.4	NP_004477.3	WXS	Illumina GAIIx	Phase_I	Q08379	GOGA2_HUMAN			18	1745	-			578					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1733G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400219	0.25291	.	.	ENSG00000167110	ENST00000421699	T	0.25250	1.81	5.39	2.9	0.33743	.	0.191459	0.53938	D	0.000041	T	0.20780	0.0500	N	0.24115	0.695	0.25465	N	0.987885	P	0.51791	0.948	P	0.47162	0.54	T	0.05750	-1.0866	10	0.72032	D	0.01	.	9.3983	0.38417	0.0:0.1464:0.0:0.8536	.	578	Q08379	GOGA2_HUMAN	M	578	ENSP00000416097:R578M	ENSP00000416097:R578M	R	-	2	0	GOLGA2	130062234	1.000000	0.71417	0.733000	0.30861	0.015000	0.08874	3.987000	0.56944	0.354000	0.24105	-0.658000	0.03865	AGG		0.602	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	208	7	208	---	---	---	---	A	131022413	C	A	131022413	3	1	130	1	0	0	0	0	1	0	0	0	6552	681	24	1	1311	1	GOLGA2	9	131022413	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	869434	131022413	10191018	134	6038										
PNPLA7	375775	broad.mit.edu	37	chr9	140379166	140379166	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagtcccacttgctgccctcCgtggggagcccaagctggtg	13	14	0	0			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.chr9:140379166C>A	ENST00000277531.4	-	20	2331	c.2145G>T	c.(2143-2145)acG>acT	p.T715T	PNPLA7_ENST00000406427.1_Silent_p.T740T|PNPLA7_ENST00000371457.1_Silent_p.T321T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					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)		TGCTGCCCTCCGTGGGGAGCC	0.672																																						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.(2218-2220)acG>acT		patatin-like phospholipase domain containing 7							39	35	37					9																	140379166		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.chr9:140379166C>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.2145G>T	9.37:g.140379166C>A			Somatic				PNPLA7_ENST00000371457.1_Silent_p.T321T|PNPLA7_ENST00000277531.4_Silent_p.T715T	p.T740T	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	21	2556	-	all_cancers(76;0.126)		715					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2220G>T	CCDS7045.1																																																																																				0.672	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		3	15	3	15	---	---	---	---	A	140379166	C	A	140379166	2	1	130	1	0	0	0	0	0	0	0	1	12170	639	23	1		1	PNPLA7	9	140379166	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	9356753	140379166	834265	135	6039										
ARRDC1	92714	broad.mit.edu	37	chr9	140509084	140509084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tattgctgtgaaccatgcccCagtgagcccccggccaggcc	11	16	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.chr9:140509084C>A	ENST00000371421.4	+	7	933	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	290	Pro-rich.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACCATGCCCCAGTGAGCCCC	0.662																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(868-870)cCa>cAa		arrestin domain containing 1							36	43	41					9																	140509084		2201	4297	6498	SO:0001583	missense	92714							g.chr9:140509084C>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"alpha-arrestin 1"					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.869C>A	9.37:g.140509084C>A	ENSP00000360475:p.Pro290Gln		Somatic				ARRDC1_ENST00000491911.1_3'UTR	p.P290Q	NM_152285.2	NP_689498.1	WXS	Illumina GAIIx	Phase_I	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	7	933	+	all_cancers(76;0.106)		290			Pro-rich.			Missense_Mutation	SNP	ENST00000371421.4	37	c.869C>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	13.78	2.338545	0.41398	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.33438	3.29;1.41	5.04	3.12	0.35913	Immunoglobulin E-set (1);	0.805524	0.11694	N	0.538596	T	0.35941	0.0949	L	0.40543	1.245	0.09310	N	1	D;P;D	0.57899	0.966;0.779;0.981	P;P;P	0.55161	0.641;0.467;0.77	T	0.11518	-1.0584	10	0.36615	T	0.2	-8.4486	8.0891	0.30790	0.0:0.7884:0.0:0.2116	.	179;290;254	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	Q	290;254	ENSP00000360475:P290Q;ENSP00000406833:P254Q	ENSP00000360475:P290Q	P	+	2	0	ARRDC1	139628905	0.744000	0.28250	0.002000	0.10522	0.807000	0.45602	1.423000	0.34837	0.473000	0.27368	0.456000	0.33151	CCA		0.662	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		6	73	6	73	---	---	---	---	A	140509084	C	A	140509084	3	1	130	1	0	0	0	0	1	0	0	0	982	594	21	1	895	1	ARRDC1	9	140509084	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	129918	140509084	704347	136	6040										
BEND7	222389	broad.mit.edu	37	chr10	13494598	13494598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcctgtagaatctgtaccCaatctcttgggccaggaagc	10	11	2	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.chr10:13494598C>A	ENST00000396900.2	-	7	1123	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	BEND7_ENST00000341083.3_Missense_Mutation_p.W323L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	375	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						AATCTGTACCCAATCTCTTGG	0.368																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(967-969)tGg>tTg		BEN domain containing 7							142	143	142					10																	13494598		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13494598C>A	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.1124G>T	10.37:g.13494598C>A	ENSP00000380108:p.Trp375Leu		Somatic				BEND7_ENST00000396900.2_Missense_Mutation_p.W375L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L	p.W323L	NM_152751.2	NP_689964.2	WXS	Illumina GAIIx	Phase_I	Q8N7W2	BEND7_HUMAN			7	1264	-			375			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.968G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.903054	0.92035	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000440282;ENST00000396898;ENST00000378605	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.63	5.63	0.86233	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.996;0.994	T	0.73839	-0.3856	10	0.87932	D	0	-9.3673	20.0442	0.97604	0.0:1.0:0.0:0.0	.	388;375;323	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	L	375;323;79;388;336	ENSP00000380108:W375L;ENSP00000345773:W323L;ENSP00000401256:W79L;ENSP00000380107:W388L;ENSP00000367868:W336L	ENSP00000345773:W323L	W	-	2	0	BEND7	13534604	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.398000	0.79919	2.814000	0.96858	0.655000	0.94253	TGG		0.368	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		6	131	6	131	---	---	---	---	A	13494598	C	A	13494598	3	1	130	1	0	0	0	0	1	0	0	0	1403	595	21	1	462	1	BEND7	10	13494598	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		13494598	122040149	137	6041										
CSGALNACT2	55454	broad.mit.edu	37	chr10	43678849	43678849	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgctgatgagctgaccccCgagcagtaccgcatgtgcat	12	12	0	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.chr10:43678849C>A	ENST00000374466.3	+	8	1823	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					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)	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517																																						ENST00000374466.3																			1	Substitution - coding silent(1)	p.P496P(1)	lung(1)	endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1486-1488)ccC>ccA		chondroitin sulfate N-acetylgalactosaminyltransferase 2							135	132	133					10																	43678849		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:43678849C>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.1488C>A	10.37:g.43678849C>A			Somatic					p.P496P	NM_018590.3	NP_061060.3	WXS	Illumina GAIIx	Phase_I	Q8N6G5	CGAT2_HUMAN			8	1823	+			496					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.1488C>A	CCDS7201.1																																																																																				0.517	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	190	5	190	---	---	---	---	A	43678849	C	A	43678849	2	1	130	1	0	0	0	0	0	0	0	1	3939	639	23	1		1	CSGALNACT2	10	43678849	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	30184251	43678849	91855898	138	6042										
SYT15	83849	broad.mit.edu	37	chr10	46967673	46967673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtctcacttttgtcctccGggaacttgtacagctctggg	11	12	2	0			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.chr10:46967673G>T	ENST00000374321.4	-	4	470	c.404C>A	c.(403-405)cCg>cAg	p.P135Q	SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q|SYT15_ENST00000374323.4_Missense_Mutation_p.P188Q	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTTGTCCTCCGGGAACTTGTA	0.627																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.4																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(562-564)cCg>cAg		synaptotagmin XV							107	123	118					10																	46967673		2055	4198	6253	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967673G>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.404C>A	10.37:g.46967673G>T	ENSP00000363441:p.Pro135Gln		Somatic				SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|SYT15_ENST00000374321.4_Missense_Mutation_p.P135Q|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q	p.P188Q			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			3	1150	-						C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.563C>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631856	0.29068	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.15256	2.44;2.44;2.75;2.69;2.56	4.88	2.01	0.26516	.	0.355948	0.32416	N	0.006131	T	0.23451	0.0567	M	0.65498	2.005	0.09310	N	1	B;P	0.46578	0.317;0.88	B;P	0.48952	0.199;0.596	T	0.06499	-1.0823	10	0.34782	T	0.22	.	8.396	0.32557	0.2628:0.0:0.7372:0.0	.	135;135	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	Q	135;135;135;13;188;135;19	ENSP00000363445:P135Q;ENSP00000427607:P135Q;ENSP00000363443:P188Q;ENSP00000363441:P135Q;ENSP00000424803:P19Q	ENSP00000363441:P135Q	P	-	2	0	SYT15	46387679	0.987000	0.35691	0.000000	0.03702	0.042000	0.13812	2.545000	0.45769	0.221000	0.20879	0.650000	0.86243	CCG		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		6	203	6	203	---	---	---	---	T	46967673	G	T	46967673	3	4	130	1	0	0	0	0	1	0	0	0	15468	1116	39	1	935	1	SYT15	10	46967673	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3288824	46967673	88567074	139	6043										
PPYR1	5540	broad.mit.edu	37	chr10	47087380	47087380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagttcctggcggataaggtGgtctgtaccgagtcctggcc	15	10	1	0			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.chr10:47087380G>T	ENST00000395716.1	+	2	682	c.597G>T	c.(595-597)gtG>gtT	p.V199V	NPY4R_ENST00000374312.1_Silent_p.V199V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	199					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)										CGGATAAGGTGGTCTGTACCG	0.582																																						ENST00000374312.1																			0											c.(595-597)gtG>gtT		neuropeptide Y receptor Y4							202	164	177					10																	47087380		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087380G>T		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.597G>T	10.37:g.47087380G>T			Somatic				NPY4R_ENST00000395716.1_Silent_p.V199V	p.V199V	NM_005972.4	NP_005963.4	WXS	Illumina GAIIx	Phase_I					3	1016	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.597G>T	CCDS31193.1																																																																																				0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	133	5	133	---	---	---	---	T	47087380	G	T	47087380	2	4	130	1	0	0	0	0	0	0	0	1	12416	1335	47	1		1	PPYR1	10	47087380	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	119707	47087380	88447367	140	6044										
ZNF365	22891	broad.mit.edu	37	chr10	64159350	64159350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggcccatttccacccaaaGggaaggaaccacctgaaaaa	8	12	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.chr10:64159350G>T	ENST00000395254.3	+	5	1306	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	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										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)					TCCACCCAAAGGGAAGGAACC	0.562																																						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.(1024-1026)aaG>aaT		zinc finger protein 365							142	137	139					10																	64159350		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159350G>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.1026G>T	10.37:g.64159350G>T	ENSP00000378674:p.Lys342Asn		Somatic				ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	p.K342N	NM_014951.2	NP_055766.2	WXS	Illumina GAIIx	Phase_I	Q70YC4	TALAN_HUMAN			5	1306	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.1026G>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170968	0.57584	.	.	ENSG00000138311	ENST00000395254	T	0.52983	0.64	5.76	0.811	0.18739	.	.	.	.	.	T	0.49115	0.1538	M	0.62723	1.935	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.51016	0.656;0.656	T	0.42068	-0.9473	9	0.38643	T	0.18	.	7.9506	0.30012	0.5337:0.0:0.4663:0.0	.	342;357	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	N	342	ENSP00000378674:K342N	ENSP00000378674:K342N	K	+	3	2	ZNF365	63829356	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	0.969000	0.29370	0.098000	0.17522	0.650000	0.86243	AAG		0.562	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		7	219	7	219	---	---	---	---	T	64159350	G	T	64159350	3	4	130	1	0	0	0	0	1	0	0	0	17866	991	35	1	1040	1	ZNF365	10	64159350	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	17071970	64159350	71375397	141	6045										
CEP55	55165	broad.mit.edu	37	chr10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatttaattaaaagtaagtGgggatcgaagcctagtaact	10	4	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.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(40-42)tGg>tTg		centrosomal protein 55kDa							110	123	118					10																	95259849		2202	4300	6502	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95259849G>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.41G>T	10.37:g.95259849G>T	ENSP00000360540:p.Trp14Leu		Somatic					p.W14L	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			2	345	+		Colorectal(252;0.207)	14					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.41G>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782884	0.31502	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.14391	2.51	5.24	4.29	0.51040	.	0.071307	0.64402	D	0.000016	T	0.09818	0.0241	L	0.38838	1.175	0.38709	D	0.953172	P	0.37015	0.578	B	0.29267	0.1	T	0.25710	-1.0124	10	0.20519	T	0.43	-5.7409	13.8866	0.63712	0.0:0.0:0.8488:0.1512	.	14	Q53EZ4	CEP55_HUMAN	L	14	ENSP00000360540:W14L	ENSP00000351102:W14L	W	+	2	0	CEP55	95249839	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.958000	0.49145	2.614000	0.88457	0.557000	0.71058	TGG		0.318	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		7	182	7	182	---	---	---	---	T	95259849	G	T	95259849	3	4	130	1	0	0	0	0	1	0	0	0	3255	1357	47	1	43	1	CEP55	10	95259849	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	31100499	95259849	40274898	142	6046										
PIK3AP1	118788	broad.mit.edu	37	chr10	98412456	98412456	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcacaggggactacttactGggagccttcactgaaatggt	11	9	2	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.chr10:98412456G>T	ENST00000339364.5	-	4	830	c.711C>A	c.(709-711)ccC>ccA	p.P237P	PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	237	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				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)		ACTACTTACTGGGAGCCTTCA	0.458																																						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.(709-711)ccC>ccA		phosphoinositide-3-kinase adaptor protein 1							149	137	141					10																	98412456		2203	4300	6503	SO:0001630	splice_region_variant	118788					cytoplasm|plasma membrane		g.chr10:98412456G>T	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.712+1C>A	10.37:g.98412456G>T			Somatic				PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P	p.P237P	NM_152309.2	NP_689522.2	WXS	Illumina GAIIx	Phase_I	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	4	830	-		Colorectal(252;0.0442)	237			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Splice_Site	SNP	ENST00000339364.5	37	c.711C>A	CCDS31259.1																																																																																				0.458	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	Silent	6	154	6	154	---	---	---	---	T	98412456	G	T	98412456	5	4	130	1	0	0	0	0	0	0	1	0	11908	1362	47	1	1762	1	PIK3AP1	10	98412456	Splice_Site	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3152607	98412456	37122291	143	6047										
PNLIPRP1	5407	broad.mit.edu	37	chr10	118363546	118363546	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccatctcctgtgcaggctgGagatatggggtttccatcac	11	11	2	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.chr10:118363546G>T	ENST00000528052.1	+	11	1139	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	356	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			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)		GTGCAGGCTGGAGATATGGGG	0.438																																						ENST00000528052.1																			0				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.(1066-1068)tgG>tgT		pancreatic lipase-related protein 1							113	99	104					10																	118363546		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118363546G>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.1068G>T	10.37:g.118363546G>T	ENSP00000433933:p.Trp356Cys		Somatic				PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C	p.W356C			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	11	1139	+			356			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1068G>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	-	17.49	3.401788	0.62288	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.58652	0.32;0.32;0.32	5.97	5.97	0.96955	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000001	T	0.80586	0.4651	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82731	-0.0312	10	0.87932	D	0	-8.7056	19.22	0.93793	0.0:0.0:1.0:0.0	.	356	P54315	LIPR1_HUMAN	C	356	ENSP00000351695:W356C;ENSP00000433933:W356C;ENSP00000434159:W356C	ENSP00000351695:W356C	W	+	3	0	PNLIPRP1	118353536	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.623000	0.74238	2.828000	0.97474	0.645000	0.84053	TGG		0.438	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		4	29	4	29	---	---	---	---	T	118363546	G	T	118363546	3	4	130	1	0	0	0	0	1	0	0	0	12150	1183	41	3	1106	3	PNLIPRP1	10	118363546	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	19951090	118363546	17171201	144	6048										
OAT	4942	broad.mit.edu	37	chr10	126091508	126091508	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacttacagggtataagccCccagaaagggcctttccaag	9	11	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.chr10:126091508C>A	ENST00000368845.5	-	7	980	c.888G>T	c.(886-888)ggG>ggT	p.G296G	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Silent_p.G158G	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	296					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GGTATAAGCCCCCAGAAAGGG	0.408																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(886-888)ggG>ggT		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						106	119	115					10																	126091508		2203	4300	6503	SO:0001819	synonymous_variant	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126091508C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.888G>T	10.37:g.126091508C>A			Somatic				OAT_ENST00000539214.1_Silent_p.G158G|OAT_ENST00000467675.1_5'UTR	p.G296G	NM_000274.3	NP_000265.1	WXS	Illumina GAIIx	Phase_I	P04181	OAT_HUMAN			7	980	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	296					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	ENST00000368845.5	37	c.888G>T	CCDS7639.1																																																																																				0.408	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		7	159	7	159	---	---	---	---	A	126091508	C	A	126091508	2	1	130	1	0	0	0	0	0	0	0	1	10803	610	22	1		1	OAT	10	126091508	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	7727962	126091508	9443239	145	6049										
APBB1	322	broad.mit.edu	37	chr11	6423820	6423820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttacttccccccagccccCagacatggggtcatgcaggt	9	17	1	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.chr11:6423820C>A	ENST00000609360.1	-	7	1339	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000389906.2_Missense_Mutation_p.G414W|APBB1_ENST00000529519.1_Intron	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)		CCCCAGCCCCCAGACATGGGG	0.582																																					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.(1240-1242)Ggg>Tgg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							64	66	65					11																	6423820		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.chr11:6423820C>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.1240G>T	11.37:g.6423820C>A	ENSP00000477213:p.Gly414Trp		Somatic				APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000609360.1_Missense_Mutation_p.G414W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W	p.G414W			WXS	Illumina GAIIx	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	414			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1240G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.267587	0.80469	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.5	4.5	0.54988	.	0.000000	0.47852	D	0.000207	T	0.39911	0.1096	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.953;1.0;1.0;0.999	T	0.22591	-1.0212	10	0.87932	D	0	-14.1676	12.8696	0.57957	0.0:1.0:0.0:0.0	.	263;179;194;414	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	W	414;414;414;263;155;179;194;155	ENSP00000299402:G414W;ENSP00000311912:G414W;ENSP00000374556:G414W;ENSP00000433338:G194W;ENSP00000437114:G155W	ENSP00000299402:G414W	G	-	1	0	APBB1	6380396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.807000	0.69157	2.497000	0.84241	0.591000	0.81541	GGG		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		6	109	6	109	---	---	---	---	A	6423820	C	A	6423820	3	1	130	1	0	0	0	0	1	0	0	0	759	594	21	1	924	1	APBB1	11	6423820	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		6423820	128582696	146	6050										
PPFIBP2	8495	broad.mit.edu	37	chr11	7656792	7656792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttactccatagtgtatggatGggaaccagcccttcccggtg	11	11	0	0			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.chr11:7656792G>T	ENST00000299492.4	+	14	1592	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	402					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)		GTGTATGGATGGGAACCAGCC	0.423																																						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.(1204-1206)Ggg>Tgg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							210	178	189					11																	7656792		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7656792G>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.1204G>T	11.37:g.7656792G>T	ENSP00000299492:p.Gly402Trp		Somatic				PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W	p.G402W	NM_003621.3	NP_003612	WXS	Illumina GAIIx	Phase_I	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	14	1592	+			402					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1204G>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998212|1.998212	0.35226|0.35226	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081|ENST00000534409	T;T;T;T|.	0.32515|.	1.88;1.46;1.87;1.45|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.360806|.	0.26338|.	N|.	0.024960|.	T|T	0.57844|0.57844	0.2081|0.2081	L|L	0.36672|0.36672	1.1|1.1	0.37004|0.37004	D|D	0.895395|0.895395	P;P;P;P;P;P|.	0.50617|.	0.88;0.856;0.937;0.856;0.856;0.67|.	B;B;B;B;B;B|.	0.44085|.	0.151;0.168;0.44;0.168;0.253;0.224|.	T|T	0.59112|0.59112	-0.7515|-0.7515	10|5	0.72032|.	D|.	0.01|.	-5.3197|-5.3197	14.9943|14.9943	0.71418|0.71418	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	290;290;325;244;259;402|.	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;.;LIPB2_HUMAN|.	W|L	402;244;244;325;290;259;46|81	ENSP00000299492:G402W;ENSP00000436498:G244W;ENSP00000435469:G290W;ENSP00000437321:G259W|.	ENSP00000299492:G402W|.	G|W	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7613368|7613368	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.047000|0.047000	0.14425|0.14425	3.611000|3.611000	0.54132|0.54132	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.423	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		5	96	5	96	---	---	---	---	T	7656792	G	T	7656792	3	4	130	1	0	0	0	0	1	0	0	0	12314	1348	47	1	1254	1	PPFIBP2	11	7656792	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1232972	7656792	127349724	147	6051										
HIPK3	10114	broad.mit.edu	37	chr11	33374937	33374937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttataatatctcccatccCagtggcatagttcaccaagt	5	12	2	0			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.chr11:33374937C>A	ENST00000303296.4	+	17	3776	c.3471C>A	c.(3469-3471)ccC>ccA	p.P1157P	HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000525975.1_Silent_p.P1136P|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Silent_p.P1136P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1157					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						TCTCCCATCCCAGTGGCATAG	0.502																																						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.(3469-3471)ccC>ccA		homeodomain interacting protein kinase 3							174	150	158					11																	33374937		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.chr11:33374937C>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.3471C>A	11.37:g.33374937C>A			Somatic				HIPK3_ENST00000525975.1_Silent_p.P1136P|HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000379016.3_Silent_p.P1136P	p.P1157P	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	Q9H422	HIPK3_HUMAN			17	3776	+			1157					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.3471C>A	CCDS7884.1																																																																																				0.502	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		6	162	6	162	---	---	---	---	A	33374937	C	A	33374937	2	1	130	1	0	0	0	0	0	0	0	1	7118	581	21	1		1	HIPK3	11	33374937	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	25718145	33374937	101631579	148	6052										
TMEM109	79073	broad.mit.edu	37	chr11	60688429	60688429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgctctgtctgggatcgcCgcacagctgctgaatgcctt	11	12	2	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.chr11:60688429C>A	ENST00000227525.3	+	3	712	c.309C>A	c.(307-309)gcC>gcA	p.A103A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.A103A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	103					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGGGATCGCCGCACAGCTGC	0.537																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(307-309)gcC>gcA		transmembrane protein 109							247	206	220					11																	60688429		2203	4299	6502	SO:0001819	synonymous_variant	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60688429C>A		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.309C>A	11.37:g.60688429C>A			Somatic				TMEM109_ENST00000536171.1_Silent_p.A103A|RP11-881M11.4_ENST00000543907.1_RNA	p.A103A	NM_024092.2	NP_076997.1	WXS	Illumina GAIIx	Phase_I	Q9BVC6	TM109_HUMAN			3	712	+			103						Silent	SNP	ENST00000227525.3	37	c.309C>A	CCDS7996.1																																																																																				0.537	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	178	5	178	---	---	---	---	A	60688429	C	A	60688429	2	1	130	1	0	0	0	0	0	0	0	1	16022	639	23	1		1	TMEM109	11	60688429	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	27313492	60688429	74318087	149	6053										
CHRM1	1128	broad.mit.edu	37	chr11	62677296	62677296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagcaggcgaaaggtgtccCggaaggctttgttgcagagt	16	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.chr11:62677296C>A	ENST00000306960.3	-	2	1818	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	AAAGGTGTCCCGGAAGGCTTT	0.627																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1276-1278)cGg>cTg		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						161	157	158					11																	62677296		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677296C>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1277G>T	11.37:g.62677296C>A	ENSP00000306490:p.Arg426Leu		Somatic				AP000438.2_ENST00000543624.1_RNA	p.R426L	NM_000738.2	NP_000729.2	WXS	Illumina GAIIx	Phase_I	P11229	ACM1_HUMAN			2	1818	-			426					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1277G>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385028	0.61956	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.57595	0.39;0.39	3.98	3.98	0.46160	.	0.792889	0.10240	N	0.698549	T	0.56124	0.1964	L	0.57536	1.79	0.36998	D	0.895127	D	0.57257	0.979	P	0.46110	0.504	T	0.65656	-0.6115	10	0.87932	D	0	-13.9234	13.6178	0.62120	0.0:1.0:0.0:0.0	.	426	P11229	ACM1_HUMAN	L	426	ENSP00000306490:R426L;ENSP00000441188:R426L	ENSP00000306490:R426L	R	-	2	0	CHRM1	62433872	0.330000	0.24705	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.028000	0.59812	0.561000	0.74099	CGG		0.627	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		5	203	5	203	---	---	---	---	A	62677296	C	A	62677296	3	1	130	1	0	0	0	0	1	0	0	0	3376	652	23	1	109	1	CHRM1	11	62677296	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1988867	62677296	72329220	150	6054										
ATG2A	23130	broad.mit.edu	37	chr11	64677317	64677317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggccgcaggtcggcaatgGggaagcgcagccgcagcgtg	18	12	0	0			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.chr11:64677317G>T	ENST00000377264.3	-	14	2055	c.1943C>A	c.(1942-1944)cCc>cAc	p.P648H	ATG2A_ENST00000421419.2_Missense_Mutation_p.P648H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	648					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						GTCGGCAATGGGGAAGCGCAG	0.701																																						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.(1942-1944)cCc>cAc		autophagy related 2A							24	30	28					11																	64677317		2200	4288	6488	SO:0001583	missense	23130						protein binding	g.chr11:64677317G>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.1943C>A	11.37:g.64677317G>T	ENSP00000366475:p.Pro648His		Somatic				ATG2A_ENST00000377264.3_Missense_Mutation_p.P648H	p.P648H			WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			14	2057	-			648					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1943C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097909	0.76870	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.64618	-0.11;-0.11	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	L	0.58101	1.795	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.76780	-0.2833	10	0.87932	D	0	.	13.2881	0.60255	0.0:0.0:1.0:0.0	.	648	Q2TAZ0	ATG2A_HUMAN	H	648	ENSP00000410522:P648H;ENSP00000366475:P648H	ENSP00000366475:P648H	P	-	2	0	ATG2A	64433893	1.000000	0.71417	0.986000	0.45419	0.681000	0.39784	6.113000	0.71553	2.587000	0.87381	0.561000	0.74099	CCC		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	74	5	74	---	---	---	---	T	64677317	G	T	64677317	3	4	130	1	0	0	0	0	1	0	0	0	1093	1232	43	1	3985	1	ATG2A	11	64677317	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2000021	64677317	70329199	151	6055										
ZFPL1	7542	broad.mit.edu	37	chr11	64853980	64853980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgccccagctgcaatggccCcatcttccccccaaccaacc	6	21	1	0			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.chr11:64853980C>A	ENST00000294258.3	+	4	460	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CDCA5_ENST00000404147.3_5'Flank|CDCA5_ENST00000275517.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	103					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCAATGGCCCCATCTTCCCC	0.647																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(307-309)cCc>cAc		zinc finger protein-like 1							101	108	106					11																	64853980		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64853980C>A		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"zinc-finger protein in MEN1 region"					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.308C>A	11.37:g.64853980C>A	ENSP00000294258:p.Pro103His		Somatic					p.P103H	NM_006782.3	NP_006773.2	WXS	Illumina GAIIx	Phase_I	O95159	ZFPL1_HUMAN			4	460	+			103					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.308C>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259189	0.80246	.	.	ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200	D;D;D	0.96265	-3.96;-3.96;-3.96	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98072	1.0399	10	0.44086	T	0.13	-27.4161	16.8521	0.85996	0.0:1.0:0.0:0.0	.	103	O95159	ZFPL1_HUMAN	H	103;103;97;103	ENSP00000294258:P103H;ENSP00000434454:P103H;ENSP00000437090:P103H	ENSP00000294258:P103H	P	+	2	0	ZFPL1	64610556	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	6.990000	0.76225	2.578000	0.87016	0.462000	0.41574	CCC		0.647	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		7	184	7	184	---	---	---	---	A	64853980	C	A	64853980	3	1	130	1	0	0	0	0	1	0	0	0	17653	623	22	1	318	1	ZFPL1	11	64853980	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	176663	64853980	70152536	152	6056										
TCIRG1	10312	broad.mit.edu	37	chr11	67817721	67817721	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctgagcctggcccacgccCgtgagtgacctggccaccga	12	18	0	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.chr11:67817721C>A	ENST00000265686.3	+	18	2344	c.2236C>A	c.(2236-2238)Cag>Aag	p.Q746K	RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	746					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						GGCCCACGCCCGTGAGTGACC	0.672																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16	GRCh37	CS030123	TCIRG1	S		c.(2236-2238)Cag>Aag		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							68	67	67					11																	67817721		2200	4293	6493	SO:0001630	splice_region_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.chr11:67817721C>A	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.2236+1C>A	11.37:g.67817721C>A			Somatic				TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	p.Q746K	NM_006019.3	NP_006010.2	WXS	Illumina GAIIx	Phase_I	Q13488	VPP3_HUMAN			18	2344	+			746					O75877|Q8WVC5	Splice_Site	SNP	ENST00000265686.3	37	c.2236C>A	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302763	0.81136	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.87179	-2.22;-2.22	3.78	3.78	0.43462	.	0.061961	0.64402	D	0.000003	D	0.94909	0.8354	H	0.95780	3.72	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.95970	0.8969	10	0.72032	D	0.01	-30.1717	13.524	0.61584	0.0:1.0:0.0:0.0	.	746	Q13488	VPP3_HUMAN	K	746;530	ENSP00000265686:Q746K;ENSP00000434407:Q530K	ENSP00000265686:Q746K	Q	+	1	0	TCIRG1	67574297	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.487000	0.60293	2.120000	0.65058	0.462000	0.41574	CAG		0.672	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019	Missense_Mutation	5	122	5	122	---	---	---	---	A	67817721	C	A	67817721	5	1	130	1	0	0	0	0	0	0	1	0	15700	666	23	1	2302	1	TCIRG1	11	67817721	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2963741	67817721	67188795	153	6057										
HEPHL1	341208	broad.mit.edu	37	chr11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcctgacctgggtgtacCattcgcacatcgacgcccca	9	16	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.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		Somatic					p.H187N	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	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	21	112	---	---	---	---	A	93796817	C	A	93796817	3	1	130	1	0	0	0	0	1	0	0	0	7055	594	21	1	569	1	HEPHL1	11	93796817	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	25979096	93796817	41209699	154	6058										
PGR	5241	broad.mit.edu	37	chr11	100962584	100962584	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacgatgcagtcatttcttcCagcacataagtagttgtgct	8	9	2	0			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.chr11:100962584C>A	ENST00000325455.5	-	3	3266	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*|PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	605					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)	TCATTTCTTCCAGCACATAAG	0.393																																					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.(1813-1815)Gga>Tga		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)						81	74	76					11																	100962584		2203	4299	6502	SO:0001587	stop_gained	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.chr11:100962584C>A	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.1813G>T	11.37:g.100962584C>A	ENSP00000325120:p.Gly605*		Somatic				PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*|PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*	p.G605*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	WXS	Illumina GAIIx	Phase_I	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)	3	3266	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	605					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	c.1813G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	40	8.123435	0.98665	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	X	605;11;605;605	.	ENSP00000263463:G605X	G	-	1	0	PGR	100467794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.756000	0.94617	0.655000	0.94253	GGA		0.393	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			4	26	4	26	---	---	---	---	A	100962584	C	A	100962584	4	1	130	1	0	0	0	0	0	1	0	0	11805	603	21	1	1012	1	PGR	11	100962584	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	7165767	100962584	34043932	155	6059										
MMP13	4322	broad.mit.edu	37	chr11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagactggtaatggcatcaaGggataaggaagggtcacatt	14	5	2	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.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ATGGCATCAAGGGATAAGGAA	0.433																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(868-870)Ctt>Att		matrix metallopeptidase 13 (collagenase 3)							328	297	308					11																	102820888		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820888G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.868C>A	11.37:g.102820888G>T	ENSP00000260302:p.Leu290Ile		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	p.L290I	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	896	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	290			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.868C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578299	0.45902	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.01647	4.71;4.71	5.77	4.84	0.62591	Hemopexin/matrixin (2);	0.366010	0.32055	N	0.006648	T	0.01976	0.0062	N	0.16130	0.375	0.31482	N	0.667005	B	0.16603	0.018	B	0.31614	0.133	T	0.18085	-1.0348	10	0.52906	T	0.07	.	13.322	0.60438	0.0:0.0:0.6044:0.3955	.	290	P45452	MMP13_HUMAN	I	290	ENSP00000260302:L290I;ENSP00000339672:L290I	ENSP00000260302:L290I	L	-	1	0	MMP13	102326098	0.955000	0.32602	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	1.388000	0.46506	0.650000	0.86243	CTT		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	226	7	226	---	---	---	---	T	102820888	G	T	102820888	3	4	130	1	0	0	0	0	1	0	0	0	9652	1000	35	1	567	1	MMP13	11	102820888	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1858304	102820888	32185628	156	6060										
SIK3	23387	broad.mit.edu	37	chr11	116733016	116733016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttcatcaatctgcccccCgtacatcttctgcagctgct	5	16	6	0			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.chr11:116733016C>A	ENST00000292055.4	-	16	1848	c.1813G>T	c.(1813-1815)Ggg>Tgg	p.G605W	SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000375300.1_Missense_Mutation_p.G663W|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	605	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						ATCTGCCCCCCGTACATCTTC	0.493																																						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.(1987-1989)Ggg>Tgg		SIK family kinase 3							173	167	169					11																	116733016		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733016C>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.1813G>T	11.37:g.116733016C>A	ENSP00000292055:p.Gly605Trp		Somatic				SIK3_ENST00000292055.4_Missense_Mutation_p.G605W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000488337.1_5'UTR	p.G663W			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1992	-			605			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1987G>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	28.7|28.7	4.941880|4.941880	0.92526|0.92526	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T|.	0.72725|.	-0.64;-0.68;-0.65;-0.25|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Protein kinase-like domain (1);|.	0.000000|.	0.42294|.	U|.	0.000740|.	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.994;0.992;0.992|.	T|T	0.51490|0.51490	-0.8699|-0.8699	10|5	0.87932|.	D|.	0|.	.|.	20.3645|20.3645	0.98876|0.98876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	605;504;605|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	W|L	663;605;605;504|704;627	ENSP00000364449:G663W;ENSP00000292055:G605W;ENSP00000438108:G605W;ENSP00000415873:G504W|.	ENSP00000292055:G605W|.	G|R	-|-	1|2	0|0	SIK3|SIK3	116238226|116238226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.652000|5.652000	0.67959|0.67959	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.493	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	198	6	198	---	---	---	---	A	116733016	C	A	116733016	3	1	130	1	0	0	0	0	1	0	0	0	14319	652	23	1	2010	1	SIK3	11	116733016	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	13912128	116733016	18273500	157	6061										
RNF214	257160	broad.mit.edu	37	chr11	117109673	117109673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgctctgaagagaaatcccCacaaacctccatcctaaagg	6	13	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.chr11:117109673C>A	ENST00000531452.1	+	3	510	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	155							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)		GAGAAATCCCCACAAACCTCC	0.522																																						ENST00000531452.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(463-465)cCa>cAa		ring finger protein 214							53	55	54					11																	117109673		1948	4152	6100	SO:0001583	missense	257160						zinc ion binding	g.chr11:117109673C>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.464C>A	11.37:g.117109673C>A	ENSP00000431643:p.Pro155Gln		Somatic				RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q	p.P155Q	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	WXS	Illumina GAIIx	Phase_I	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	3	510	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	155					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.464C>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688768	0.68271	.	.	ENSG00000167257	ENST00000531452;ENST00000300650	T;T	0.37584	1.19;1.19	5.71	3.63	0.41609	.	0.633814	0.14526	N	0.314182	T	0.21427	0.0516	N	0.03115	-0.41	0.31953	N	0.609442	D	0.54207	0.965	P	0.51355	0.667	T	0.05733	-1.0867	9	.	.	.	-5.3925	5.48	0.16719	0.0:0.7293:0.0:0.2707	.	155	Q8ND24	RN214_HUMAN	Q	155	ENSP00000431643:P155Q;ENSP00000300650:P155Q	.	P	+	2	0	RNF214	116614883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.720000	0.38022	1.421000	0.47157	0.591000	0.81541	CCA		0.522	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		6	71	6	71	---	---	---	---	A	117109673	C	A	117109673	3	1	130	1	0	0	0	0	1	0	0	0	13478	594	21	1	470	1	RNF214	11	117109673	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	376657	117109673	17896843	158	6062										
TECTA	7007	broad.mit.edu	37	chr11	120996467	120996467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcacagctgcgtgtatgacCtgtgcagtgtgagggacaat	14	8	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.chr11:120996467C>A	ENST00000392793.1	+	8	1931	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	TECTA_ENST00000264037.2_Missense_Mutation_p.L554M			O75443	TECTA_HUMAN	tectorin alpha	554					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)		CGTGTATGACCTGTGCAGTGT	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.(1660-1662)Ctg>Atg		tectorin alpha							114	107	109					11																	120996467		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996467C>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.1660C>A	11.37:g.120996467C>A	ENSP00000376543:p.Leu554Met		Somatic				TECTA_ENST00000264037.2_Missense_Mutation_p.L554M	p.L554M			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1931	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	554						Missense_Mutation	SNP	ENST00000392793.1	37	c.1660C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998279	0.35226	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77229	-1.08;-1.08	4.91	3.01	0.34805	Uncharacterised domain, cysteine-rich (2);	0.068304	0.64402	D	0.000014	T	0.62060	0.2397	N	0.11870	0.19	0.34897	D	0.746147	P	0.39737	0.685	B	0.41412	0.356	T	0.66424	-0.5927	10	0.30078	T	0.28	.	11.6328	0.51185	0.0:0.8519:0.0:0.1481	.	554	O75443	TECTA_HUMAN	M	554	ENSP00000376543:L554M;ENSP00000264037:L554M	ENSP00000264037:L554M	L	+	1	2	TECTA	120501677	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.633000	0.46519	0.587000	0.29643	0.563000	0.77884	CTG		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		6	144	6	144	---	---	---	---	A	120996467	C	A	120996467	3	1	130	1	0	0	0	0	1	0	0	0	15744	680	24	1	1686	1	TECTA	11	120996467	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3886794	120996467	14010049	159	6063										
C11orf63	79864	broad.mit.edu	37	chr11	122774677	122774677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcagacctccgctatgaccCgaactggaagagtaagaagg	11	10	1	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.chr11:122774677C>A	ENST00000531316.1	+	2	481	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	C11orf63_ENST00000227349.2_Missense_Mutation_p.P130Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	130					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)		CGCTATGACCCGAACTGGAAG	0.478																																						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.(388-390)cCg>cAg		chromosome 11 open reading frame 63							142	160	154					11																	122774677		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774677C>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.389C>A	11.37:g.122774677C>A	ENSP00000431669:p.Pro130Gln		Somatic				C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.P130Q	p.P130Q	NM_024806.2	NP_079082.2	WXS	Illumina GAIIx	Phase_I	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	686	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	130					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.389C>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428567	0.83667	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.68025	-0.3;-0.3	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000003	D	0.82300	0.5007	M	0.74881	2.28	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83667	0.0164	10	0.87932	D	0	-15.7104	18.0713	0.89407	0.0:1.0:0.0:0.0	.	130;130	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	130	ENSP00000227349:P130Q;ENSP00000431669:P130Q	ENSP00000227349:P130Q	P	+	2	0	C11orf63	122279887	0.997000	0.39634	0.975000	0.42487	0.837000	0.47467	4.630000	0.61297	2.706000	0.92434	0.655000	0.94253	CCG		0.478	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		8	296	8	296	---	---	---	---	A	122774677	C	A	122774677	3	1	130	1	0	0	0	0	1	0	0	0	1654	652	23	1	395	1	C11orf63	11	122774677	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1778210	122774677	12231839	160	6064										
NCAPD3	23310	broad.mit.edu	37	chr11	134046279	134046279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccttccatttcacaaattcCtcctgtgcagagagaagccg	7	14	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.chr11:134046279C>A	ENST00000534548.2	-	24	3088	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1008					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)		TCACAAATTCCTCCTGTGCAG	0.547																																						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.(3022-3024)gaG>gaT		non-SMC condensin II complex, subunit D3							99	96	97					11																	134046279		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134046279C>A	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.3024G>T	11.37:g.134046279C>A	ENSP00000433681:p.Glu1008Asp		Somatic					p.E1008D	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	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)	24	3088	-	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)	1008					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3024G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809118	0.70797	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.48836	0.8;0.8	6.17	-8.07	0.01098	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78994	-0.1984	10	0.66056	D	0.02	-32.416	18.8763	0.92337	0.0:0.7188:0.0:0.2812	.	1008	P42695	CNDD3_HUMAN	D	1008;44	ENSP00000433681:E1008D;ENSP00000435173:E44D	ENSP00000435173:E44D	E	-	3	2	NCAPD3	133551489	0.608000	0.26966	0.890000	0.34922	0.494000	0.33585	-0.148000	0.10219	-1.172000	0.02762	-1.105000	0.02106	GAG		0.547	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		5	82	5	82	---	---	---	---	A	134046279	C	A	134046279	3	1	130	1	0	0	0	0	1	0	0	0	10206	680	24	1	1520	1	NCAPD3	11	134046279	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	11271602	134046279	960237	161	6065										
ITFG2	55846	broad.mit.edu	37	chr12	2921985	2921985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcagcgggagcctcttccCgcacgcaatctgcctcggag	12	15	3	0			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.chr12:2921985C>A	ENST00000228799.2	+	1	198	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_5'UTR|RP4-816N1.6_ENST00000552469.1_RNA	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	20					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCTCTTCCCGCACGCAATC	0.607																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(58-60)cCg>cAg		integrin alpha FG-GAP repeat containing 2							99	93	95					12																	2921985		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2921985C>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.59C>A	12.37:g.2921985C>A	ENSP00000228799:p.Pro20Gln		Somatic				ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR	p.P20Q	NM_018463.3	NP_060933.3	WXS	Illumina GAIIx	Phase_I	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	198	+			20					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.59C>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396747	0.62177	.	.	ENSG00000111203	ENST00000228799	T	0.68479	-0.33	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.72110	-0.4389	10	0.23302	T	0.38	-8.0114	12.9905	0.58616	0.0:0.9224:0.0:0.0776	.	20;20	Q969R8;Q6PKU5	ITFG2_HUMAN;.	Q	20	ENSP00000228799:P20Q	ENSP00000228799:P20Q	P	+	2	0	ITFG2	2792246	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.008000	0.76341	1.280000	0.44463	0.650000	0.86243	CCG		0.607	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		5	154	5	154	---	---	---	---	A	2921985	C	A	2921985	3	1	130	1	0	0	0	0	1	0	0	0	7870	652	23	1	61	1	ITFG2	12	2921985	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		2921985	130929910	162	6066										
VWF	7450	broad.mit.edu	37	chr12	6103761	6103761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaacagagaccagtctccCattcaccgtcacctgcacaa	7	15	3	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.chr12:6103761C>A	ENST00000261405.5	-	36	6330	c.6076G>T	c.(6076-6078)Ggg>Tgg	p.G2026W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2026	VWFD 4. {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)	ACCAGTCTCCCATTCACCGTC	0.473																																						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.(6076-6078)Ggg>Tgg		von Willebrand factor	Antihemophilic Factor(DB00025)						168	126	140					12																	6103761		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.chr12:6103761C>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.6076G>T	12.37:g.6103761C>A	ENSP00000261405:p.Gly2026Trp		Somatic					p.G2026W	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			36	6330	-			2026			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6076G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224676	0.39300	.	.	ENSG00000110799	ENST00000261405	T	0.63255	-0.03	4.91	4.91	0.64330	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000405	D	0.82527	0.5056	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86515	0.1812	10	0.87932	D	0	.	17.1147	0.86685	0.0:1.0:0.0:0.0	.	2026	P04275	VWF_HUMAN	W	2026	ENSP00000261405:G2026W	ENSP00000261405:G2026W	G	-	1	0	VWF	5974022	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	4.260000	0.58835	2.288000	0.76882	0.655000	0.94253	GGG		0.473	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		5	68	5	68	---	---	---	---	A	6103761	C	A	6103761	3	1	130	1	0	0	0	0	1	0	0	0	17243	594	21	1	2433	1	VWF	12	6103761	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3181776	6103761	127748134	163	6067										
USP5	8078	broad.mit.edu	37	chr12	6961392	6961392	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcagtattaccgacgatcCgggtccctaaggctggagac	12	11	1	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.chr12:6961392C>A	ENST00000229268.8	+	1	101	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	CDCA3_ENST00000540683.1_5'Flank|USP5_ENST00000389231.5_Silent_p.R17R|CDCA3_ENST00000538862.2_5'Flank|CDCA3_ENST00000535406.1_5'Flank|CDCA3_ENST00000422785.3_5'Flank|CDCA3_ENST00000229265.6_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	17					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						ACCGACGATCCGGGTCCCTAA	0.642																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(49-51)Cgg>Agg		ubiquitin specific peptidase 5 (isopeptidase T)							106	86	93					12																	6961392		2203	4300	6503	SO:0001819	synonymous_variant	8078				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.chr12:6961392C>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.49C>A	12.37:g.6961392C>A			Somatic				USP5_ENST00000389231.5_Silent_p.R17R	p.R17R	NM_001098536.1	NP_001092006.1	WXS	Illumina GAIIx	Phase_I	P45974	UBP5_HUMAN			1	101	+			17					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.49C>A	CCDS41743.1																																																																																				0.642	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			4	36	4	36	---	---	---	---	A	6961392	C	A	6961392	2	1	130	1	0	0	0	0	0	0	0	1	17078	643	23	1		1	USP5	12	6961392	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	857631	6961392	126890503	164	6068										
GPD1	2819	broad.mit.edu	37	chr12	50497833	50497833	+	De_novo_Start_InFrame	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaggcagagacgcggcacCatggctagcaagaaagtctg	13	11	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.chr12:50497833C>A	ENST00000301149.3	+	0	232				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						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						GACGCGGCACCATGGCTAGCA	0.602																																					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								glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						118	112	114					12																	50497833		2203	4300	6503			2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50497833C>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		12.37:g.50497833C>A			Somatic				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame		NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	WXS	Illumina GAIIx	Phase_I	P21695	GPDA_HUMAN			0	232	+								F8W1L5|Q8N1B0	Translation_Start_Site	SNP	ENST00000301149.3	37		CCDS8799.1																																																																																				0.602	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			6	148	6	148	---	---	---	---	A	50497833	C	A	50497833	1	1	130	1	0	1	0	0	0	0	0	0	6604	609	21	1		1	GPD1	12	50497833	De_novo_Start_InFrame	SNP	C	TCGA-G9-6351-01A-21D-1961-08	43536441	50497833	83354062	165	6069										
KRT72	140807	broad.mit.edu	37	chr12	52979802	52979802	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggtggcacagctgctcccCgaggttttggcaaggggatc	15	10	0	0	rs149656096	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.chr12:52979802C>A	ENST00000537672.2	-	9	1510	c.1500G>T	c.(1498-1500)tcG>tcT	p.S500S	KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000293745.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	500	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S500S(1)		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)		AGCTGCTCCCCGAGGTTTTGG	0.557																																						ENST00000293745.2																			1	Substitution - coding silent(1)	p.S500S(1)	lung(1)	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.(1498-1500)tcG>tcT		keratin 72							165	148	154					12																	52979802		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52979802C>A	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.1500G>T	12.37:g.52979802C>A			Somatic				KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000537672.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	p.S500S	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1585	-			500			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.1500G>T	CCDS8833.1																																																																																				0.557	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		7	228	7	228	---	---	---	---	A	52979802	C	A	52979802	2	1	130	1	0	0	0	0	0	0	0	1	8485	639	23	1		1	KRT72	12	52979802	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2481969	52979802	80872093	166	6070										
KRT72	140807	broad.mit.edu	37	chr12	52984711	52984711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtgagcttgaggtcatccCcatgctggcctgctgtgacc	13	12	1	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.chr12:52984711C>A	ENST00000537672.2	-	6	1008	c.998G>T	c.(997-999)gGg>gTg	p.G333V	KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000293745.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	333	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)		GAGGTCATCCCCATGCTGGCC	0.537																																						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.(997-999)gGg>gTg		keratin 72							103	93	96					12																	52984711		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52984711C>A	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.998G>T	12.37:g.52984711C>A	ENSP00000441160:p.Gly333Val		Somatic				KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000537672.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	p.G333V	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1083	-			333			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.998G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660919	0.47572	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;T	0.77489	-0.95;-0.95;-1.1	5.14	5.14	0.70334	Filament (1);	0.000000	0.50627	D	0.000118	D	0.91240	0.7239	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92822	0.6273	10	0.87932	D	0	.	19.5038	0.95106	0.0:1.0:0.0:0.0	.	333	Q14CN4	K2C72_HUMAN	V	333;333;145	ENSP00000441160:G333V;ENSP00000293745:G333V;ENSP00000446151:G145V	ENSP00000293745:G333V	G	-	2	0	KRT72	51270978	0.706000	0.27856	0.968000	0.41197	0.126000	0.20510	2.351000	0.44071	2.791000	0.96007	0.655000	0.94253	GGG		0.537	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		5	82	5	82	---	---	---	---	A	52984711	C	A	52984711	3	1	130	1	0	0	0	0	1	0	0	0	8485	623	22	1	553	1	KRT72	12	52984711	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4909	52984711	80867184	167	6071										
HOXC10	3226	broad.mit.edu	37	chr12	54379100	54379100	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggagcccttggctgcgccCggcggaggagagcgctatag	18	12	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.chr12:54379100C>A	ENST00000303460.4	+	1	131	c.57C>A	c.(55-57)ccC>ccA	p.P19P	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	19					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						TGGCTGCGCCCGGCGGAGGAG	0.597																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(55-57)ccC>ccA		homeobox C10							67	80	76					12																	54379100		2203	4300	6503	SO:0001819	synonymous_variant	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379100C>A		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.57C>A	12.37:g.54379100C>A			Somatic				HOXC-AS3_ENST00000514702.1_RNA	p.P19P	NM_017409.3	NP_059105.2	WXS	Illumina GAIIx	Phase_I	Q9NYD6	HXC10_HUMAN			1	131	+			19					O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	c.57C>A	CCDS8868.1																																																																																				0.597	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			5	159	5	159	---	---	---	---	A	54379100	C	A	54379100	2	1	130	1	0	0	0	0	0	0	0	1	7309	639	23	1		1	HOXC10	12	54379100	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1394389	54379100	79472795	168	6072										
ESYT1	23344	broad.mit.edu	37	chr12	56536108	56536108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgtgctgggctcattatccCtgcccctctcagagctcctc	9	17	2	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.chr12:56536108C>A	ENST00000394048.5	+	25	2896	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	878					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						CTCATTATCCCTGCCCCTCTC	0.577																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2632-2634)Ctg>Atg		extended synaptotagmin-like protein 1							117	103	108					12																	56536108		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536108C>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.2632C>A	12.37:g.56536108C>A	ENSP00000377612:p.Leu878Met		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000550878.1_Intron	p.L878M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			25	2896	+			878					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2632C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249402	0.39797	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.74002	-0.8;-0.8;-0.8	4.55	2.71	0.32032	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.157646	0.42420	D	0.000703	T	0.77130	0.4085	L	0.60455	1.87	0.33501	D	0.589966	D;P	0.55385	0.971;0.769	P;P	0.60789	0.879;0.507	T	0.80331	-0.1427	10	0.62326	D	0.03	-11.6668	4.4636	0.11678	0.0:0.6146:0.186:0.1994	.	888;878	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	M	878;832;888;888	ENSP00000377612:L878M;ENSP00000267113:L888M;ENSP00000445952:L888M	ENSP00000267113:L888M	L	+	1	2	ESYT1	54822375	0.433000	0.25562	0.886000	0.34754	0.385000	0.30292	0.670000	0.25157	1.284000	0.44531	-0.291000	0.09656	CTG		0.577	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	189	7	189	---	---	---	---	A	56536108	C	A	56536108	3	1	130	1	0	0	0	0	1	0	0	0	5264	680	24	1	2760	1	ESYT1	12	56536108	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2157008	56536108	77315787	169	6073										
MBD6	114785	broad.mit.edu	37	chr12	57919487	57919487	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctgacctgggctctcctCcggcccctcatgcctcctcc	7	22	3	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.chr12:57919487C>A	ENST00000355673.3	+	6	1092	c.736C>A	c.(736-738)Ccg>Acg	p.P246T	MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	246	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						GGGCTCTCCTCCGGCCCCTCA	0.617																																						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.(736-738)Ccg>Acg		methyl-CpG binding domain protein 6							132	155	147					12																	57919487		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919487C>A	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.736C>A	12.37:g.57919487C>A	ENSP00000347896:p.Pro246Thr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	p.P246T	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			6	1092	+			246			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.736C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.564599	0.27915	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.37	3.37	0.38596	.	1.250320	0.06096	U	0.664551	T	0.45657	0.1353	N	0.08118	0	0.31154	N	0.70511	D;D	0.69078	0.997;0.978	D;P	0.78314	0.991;0.846	T	0.52079	-0.8623	8	.	.	.	-2.6698	12.7608	0.57363	0.0:1.0:0.0:0.0	.	246;246	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	246	.	.	P	+	1	0	MBD6	56205754	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.044000	0.30329	2.173000	0.68751	0.444000	0.29173	CCG		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			8	290	8	290	---	---	---	---	A	57919487	C	A	57919487	3	1	130	1	0	0	0	0	1	0	0	0	9348	855	30	3	750	3	MBD6	12	57919487	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1383379	57919487	75932408	170	6074										
MON2	23041	broad.mit.edu	37	chr12	62931436	62931436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacttaacttggcgcattgcCatggggctgttcttggaaca	11	9	1	0			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.chr12:62931436C>A	ENST00000393632.2	+	16	2459	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000393630.3_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	690					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)		GGCGCATTGCCATGGGGCTGT	0.338																																						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.(2068-2070)Cat>Aat		MON2 homolog (S. cerevisiae)							129	124	126					12																	62931436		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62931436C>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.2068C>A	12.37:g.62931436C>A	ENSP00000377252:p.His690Asn		Somatic				MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N|MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000393632.2_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N	p.H690N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina GAIIx	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	16	2459	+			690					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2068C>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338064	0.60963	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.54866	0.56;0.56;0.55;0.56;0.57;0.56;0.58	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.39245	1.2	0.80722	D	1	B;B;B;P	0.34462	0.11;0.176;0.176;0.454	B;B;B;B	0.36534	0.085;0.162;0.144;0.227	T	0.35968	-0.9767	9	.	.	.	-15.3371	20.024	0.97514	0.0:1.0:0.0:0.0	.	690;667;690;690	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	690;690;690;690;618;667;690;690	ENSP00000377252:H690N;ENSP00000377250:H690N;ENSP00000280379:H690N;ENSP00000447407:H690N;ENSP00000449215:H667N;ENSP00000377249:H690N;ENSP00000446635:H690N	.	H	+	1	0	MON2	61217703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.718000	0.92993	0.655000	0.94253	CAT		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		5	116	5	116	---	---	---	---	A	62931436	C	A	62931436	3	1	130	1	0	0	0	0	1	0	0	0	9700	594	21	1	2130	1	MON2	12	62931436	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5011949	62931436	70920459	171	6075										
SRGAP1	57522	broad.mit.edu	37	chr12	64485104	64485104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaacacaggaagtccaggccCcgctcacagtataatactaa	7	12	1	0			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.chr12:64485104C>A	ENST00000355086.3	+	12	2009	c.1485C>A	c.(1483-1485)ccC>ccA	p.P495P	SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	495	F-BAR domain.				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)		AGTCCAGGCCCCGCTCACAGT	0.458																																						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.(1483-1485)ccC>ccA		SLIT-ROBO Rho GTPase activating protein 1							94	97	96					12																	64485104		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64485104C>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.1485C>A	12.37:g.64485104C>A			Somatic				SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	p.P495P	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	12	2009	+			495					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1485C>A	CCDS8967.1																																																																																				0.458	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			5	72	5	72	---	---	---	---	A	64485104	C	A	64485104	2	1	130	1	0	0	0	0	0	0	0	1	15144	610	22	1		1	SRGAP1	12	64485104	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1553668	64485104	69366791	172	6076										
PLXNC1	10154	broad.mit.edu	37	chr12	94641723	94641723	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactgcgggtttttagccccCagtttaaagagttcaaaagt	9	8	1	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.chr12:94641723C>A	ENST00000258526.4	+	13	2682	c.2433C>A	c.(2431-2433)ccC>ccA	p.P811P		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	811					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)	p.P811P(1)		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						TTTTAGCCCCCAGTTTAAAGA	0.448																																						ENST00000258526.4																			1	Substitution - coding silent(1)	p.P811P(1)	lung(1)	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.(2431-2433)ccC>ccA		plexin C1							115	120	119					12																	94641723		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641723C>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.2433C>A	12.37:g.94641723C>A			Somatic					p.P811P	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			13	2682	+			811					Q59H25	Silent	SNP	ENST00000258526.4	37	c.2433C>A	CCDS9049.1																																																																																				0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	185	6	185	---	---	---	---	A	94641723	C	A	94641723	2	1	130	1	0	0	0	0	0	0	0	1	12126	581	21	1		1	PLXNC1	12	94641723	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	30156619	94641723	39210172	173	6077										
IKBIP	121457	broad.mit.edu	37	chr12	99007500	99007500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagtcggtaaccaatctccCaatgcgtagtgttaaatcat	7	9	2	0			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.chr12:99007500C>A	ENST00000342502.2	-	3	1327	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	306					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						ACCAATCTCCCAATGCGTAGT	0.323																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(916-918)Ggg>Tgg		IKBKB interacting protein							92	95	94					12																	99007500		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007500C>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.916G>T	12.37:g.99007500C>A	ENSP00000343471:p.Gly306Trp		Somatic				IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W	p.G306W	NM_201612.2	NP_963906.1	WXS	Illumina GAIIx	Phase_I	Q70UQ0	IKIP_HUMAN			3	1327	-			306					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.916G>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958552	0.74016	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.71222	0.45;-0.55	5.52	5.52	0.82312	.	.	.	.	.	D	0.82793	0.5114	L	0.59436	1.845	0.44424	D	0.997349	D	0.89917	1.0	D	0.97110	1.0	D	0.83408	0.0026	9	0.62326	D	0.03	.	19.4407	0.94820	0.0:1.0:0.0:0.0	.	306	Q70UQ0	IKIP_HUMAN	W	306;200	ENSP00000343471:G306W;ENSP00000398023:G200W	ENSP00000343471:G306W	G	-	1	0	IKBIP	97531631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.098000	0.71458	2.593000	0.87608	0.643000	0.83706	GGG		0.323	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		6	88	6	88	---	---	---	---	A	99007500	C	A	99007500	3	1	130	1	0	0	0	0	1	0	0	0	7609	594	21	1	140	1	IKBIP	12	99007500	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4365777	99007500	34844395	174	6078										
NUP37	79023	broad.mit.edu	37	chr12	102471269	102471269	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggattgttccattcttctCtgcaaccattagctgtaaga	7	11	2	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.chr12:102471269C>A	ENST00000552283.1	-	7	692	c.553G>T	c.(553-555)Gag>Tag	p.E185*	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	185					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						CCATTCTTCTCTGCAACCATT	0.378																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(553-555)Gag>Tag		nucleoporin 37kDa							107	111	110					12																	102471269		2203	4300	6503	SO:0001587	stop_gained	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.chr12:102471269C>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.553G>T	12.37:g.102471269C>A	ENSP00000448054:p.Glu185*		Somatic				NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*	p.E185*			WXS	Illumina GAIIx	Phase_I	Q8NFH4	NUP37_HUMAN			7	692	-			185					Q9H644	Nonsense_Mutation	SNP	ENST00000552283.1	37	c.553G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210000	0.97380	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.5923	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	185	.	ENSP00000251074:E185X	E	-	1	0	NUP37	100995399	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.232000	0.78116	2.865000	0.98341	0.655000	0.94253	GAG		0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		5	89	5	89	---	---	---	---	A	102471269	C	A	102471269	4	1	130	1	0	0	0	0	0	1	0	0	10764	922	32	3	443	3	NUP37	12	102471269	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3463769	102471269	31380626	175	6079										
ANKRD13A	88455	broad.mit.edu	37	chr12	110465570	110465570	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccaatttggtgcacaagGggtaagttgaagcaatgagc	12	7	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.chr12:110465570G>T	ENST00000261739.4	+	9	1110	c.944G>T	c.(943-945)gGg>gTg	p.G315V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	315						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GGTGCACAAGGGGTAAGTTGA	0.443																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(943-945)gGg>gTg		ankyrin repeat domain 13A							102	100	101					12																	110465570		2203	4300	6503	SO:0001630	splice_region_variant	88455							g.chr12:110465570G>T	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.945+1G>T	12.37:g.110465570G>T			Somatic					p.G315V	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	Q8IZ07	AN13A_HUMAN			9	1110	+			315					O60736	Splice_Site	SNP	ENST00000261739.4	37	c.944G>T	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.746981|4.746981	0.89663|0.89663	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000546476|ENST00000547639	T|T	0.49139|0.50001	0.79|0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.045090|0.045090	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.982|.	D;P|.	0.71414|.	0.973;0.906|.	T|T	0.68872|0.68872	-0.5294|-0.5294	10|8	0.72032|0.87932	D|D	0.01|0	-23.5591|-23.5591	14.8203|14.8203	0.70068|0.70068	0.0:0.0:0.8473:0.1527|0.0:0.0:0.8473:0.1527	.|.	314;315|.	B4DYP5;Q8IZ07|.	.;AN13A_HUMAN|.	V|W	99;315;86|168	ENSP00000261739:G315V|ENSP00000449781:G168W	ENSP00000261738:G99V|ENSP00000449781:G168W	G|G	+|+	2|1	0|0	ANKRD13A|ANKRD13A	108949953|108949953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.086000|8.086000	0.89520|0.89520	2.830000|2.830000	0.97506|0.97506	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.443	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	Missense_Mutation	6	96	6	96	---	---	---	---	T	110465570	G	T	110465570	5	4	130	1	0	0	0	0	0	0	1	0	641	1246	43	1	978	1	ANKRD13A	12	110465570	Splice_Site	SNP	G	TCGA-G9-6351-01A-21D-1961-08	7994301	110465570	23386325	176	6080										
CIT	11113	broad.mit.edu	37	chr12	120166400	120166400	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatagcatgcttcttctcCaggtcattgagctagacatt	8	10	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.chr12:120166400C>A	ENST00000261833.7	-	27	3424	c.3372G>T	c.(3370-3372)ctG>ctT	p.L1124L	CIT_ENST00000392521.2_Silent_p.L1166L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1124	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)		GCTTCTTCTCCAGGTCATTGA	0.458																																						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.(3496-3498)ctG>ctT		citron (rho-interacting, serine/threonine kinase 21)							184	173	176					12																	120166400		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.chr12:120166400C>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.3372G>T	12.37:g.120166400C>A			Somatic				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1124L	p.L1166L	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3553	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1124			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3498G>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188151	0.21954	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.75228	0.3821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73525	-0.3955	4	.	.	.	.	19.2982	0.94132	0.0:1.0:0.0:0.0	.	.	.	.	L	752	.	.	W	-	2	0	CIT	118650783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	2.641000	0.89580	0.655000	0.94253	TGG		0.458	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	240	6	240	---	---	---	---	A	120166400	C	A	120166400	2	1	130	1	0	0	0	0	0	0	0	1	3438	581	21	1		1	CIT	12	120166400	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	9700830	120166400	13685495	177	6081										
MLEC	9761	broad.mit.edu	37	chr12	121134244	121134244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgggtgcagtcaggccccCgcacacccaacccctatgcc	9	20	1	0	rs372407878		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.chr12:121134244C>A	ENST00000228506.3	+	5	1203	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000412616.2_Silent_p.P180P|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	259					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						GTCAGGCCCCCGCACACCCAA	0.512																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(775-777)Cgc>Agc		malectin							160	153	156					12																	121134244		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.chr12:121134244C>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.775C>A	12.37:g.121134244C>A	ENSP00000228506:p.Arg259Ser		Somatic				MLEC_ENST00000412616.2_Silent_p.P180P|MLEC_ENST00000535413.1_3'UTR	p.R259S	NM_014730.2	NP_055545.1	WXS	Illumina GAIIx	Phase_I	Q14165	MLEC_HUMAN			5	1203	+			259						Missense_Mutation	SNP	ENST00000228506.3	37	c.775C>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041845	0.55003	.	.	ENSG00000110917	ENST00000228506;ENST00000535656	.	.	.	5.43	3.57	0.40892	.	0.163453	0.56097	N	0.000034	T	0.59649	0.2209	M	0.64404	1.975	0.80722	D	1	D	0.60160	0.987	P	0.50049	0.629	T	0.61262	-0.7098	9	0.72032	D	0.01	.	8.5005	0.33154	0.2726:0.6572:0.0:0.0701	.	259	Q14165	MLEC_HUMAN	S	259;136	.	ENSP00000228506:R259S	R	+	1	0	MLEC	119618627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.519000	0.53458	0.749000	0.32854	0.563000	0.77884	CGC		0.512	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	207	7	207	---	---	---	---	A	121134244	C	A	121134244	3	1	130	1	0	0	0	0	1	0	0	0	9613	652	23	1	793	1	MLEC	12	121134244	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	967844	121134244	12717651	178	6082										
MAB21L1	4081	broad.mit.edu	37	chr13	36049311	36049311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgaaacagatctaagttcGgtagaaagtagtggggacac	12	6	1	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.chr13:36049311G>T	ENST00000379919.4	-	1	1521	c.965C>A	c.(964-966)cCg>cAg	p.P322Q	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	322					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)		ATCTAAGTTCGGTAGAAAGTA	0.537																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(964-966)cCg>cAg		mab-21-like 1 (C. elegans)							107	107	107					13																	36049311		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049311G>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.965C>A	13.37:g.36049311G>T	ENSP00000369251:p.Pro322Gln		Somatic				NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	p.P322Q	NM_005584.4	NP_005575.1	WXS	Illumina GAIIx	Phase_I	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	1521	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	322					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.965C>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028215	0.75390	.	.	ENSG00000180660	ENST00000379919	T	0.15952	2.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.79258	2.445	0.80722	D	1	P	0.51240	0.943	P	0.62813	0.907	T	0.25502	-1.0130	10	0.56958	D	0.05	-1.5935	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322	Q13394	MB211_HUMAN	Q	322	ENSP00000369251:P322Q	ENSP00000369251:P322Q	P	-	2	0	MAB21L1	34947311	1.000000	0.71417	0.978000	0.43139	0.857000	0.48899	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CCG		0.537	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		6	173	6	173	---	---	---	---	T	36049311	G	T	36049311	3	4	130	1	0	0	0	0	1	0	0	0	9141	1116	39	1	118	1	MAB21L1	13	36049311	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		36049311	79120567	179	6083										
ZC3H13	23091	broad.mit.edu	37	chr13	46544601	46544601	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcatttctatagcgcttcCtaaattggacaagcaaacac	5	11	2	0	rs111945370		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.chr13:46544601C>A	ENST00000242848.4	-	13	2817		c.e13-1		ZC3H13_ENST00000282007.3_Splice_Site|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								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)		ATAGCGCTTCCTAAATTGGAC	0.408																																					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.e13-1		zinc finger CCCH-type containing 13							82	88	86					13																	46544601		2203	4300	6503	SO:0001630	splice_region_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46544601C>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.2469-1G>T	13.37:g.46544601C>A			Somatic				ZC3H13_ENST00000282007.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	2817	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)						A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Splice_Site	SNP	ENST00000242848.4	37			.	.	.	.	.	.	.	.	.	.	C	18.66	3.671060	0.67814	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZC3H13	45442602	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.511000	0.73733	2.770000	0.95276	0.655000	0.94253	.		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	Intron	6	146	6	146	---	---	---	---	A	46544601	C	A	46544601	5	1	130	1	0	0	0	0	0	0	1	0	17562	695	24	1	2246	1	ZC3H13	13	46544601	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	10495290	46544601	68625277	180	6084										
RNF113B	140432	broad.mit.edu	37	chr13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctgcagcccctttccgtCcaggctttttgaagaggaag	12	12	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.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_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		Somatic				FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	p.G26V	NM_178861.4	NP_849192.1	WXS	Illumina GAIIx	Phase_I	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	5	49	---	---	---	---	A	98829414	C	A	98829414	3	1	130	1	0	0	0	0	1	0	0	0	13428	855	30	3	899	3	RNF113B	13	98829414	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	52284813	98829414	16340464	181	6085										
ZNF828	283489	broad.mit.edu	37	chr13	115089998	115089998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actcttagtaatcccaaaccCcagaagcagtctcatttccc	4	15	2	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.chr13:115089998C>A	ENST00000361283.1	+	3	990	c.681C>A	c.(679-681)ccC>ccA	p.P227P		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	227	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)										ATCCCAAACCCCAGAAGCAGT	0.527																																						ENST00000361283.1																			0											c.(679-681)ccC>ccA		chromosome alignment maintaining phosphoprotein 1							103	117	113					13																	115089998		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.chr13:115089998C>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.681C>A	13.37:g.115089998C>A			Somatic					p.P227P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina GAIIx	Phase_I	Q96JM3	ZN828_HUMAN			3	990	+			227			Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.681C>A	CCDS9545.1																																																																																				0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		7	201	7	201	---	---	---	---	A	115089998	C	A	115089998	2	1	130	1	0	0	0	0	0	0	0	1	18178	610	22	1		1	ZNF828	13	115089998	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	16260584	115089998	79880	182	6086										
PABPN1	8106	broad.mit.edu	37	chr14	23793354	23793354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctctgactcaggtgatccCaaaacgaaccaacagaccag	7	13	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.chr14:23793354C>A	ENST00000216727.4	+	6	918	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q|PABPN1_ENST00000397276.2_Missense_Mutation_p.P246Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	246	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|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 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGATCCCAAAACGAACC	0.507																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(736-738)cCa>cAa		poly(A) binding protein, nuclear 1							79	81	80					14																	23793354		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793354C>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.737C>A	14.37:g.23793354C>A	ENSP00000216727:p.Pro246Gln		Somatic				PABPN1_ENST00000216727.4_Missense_Mutation_p.P246Q|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q	p.P246Q			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(265;0.00643)	6	750	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.737C>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591353	0.46214	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.058264	0.64402	D	0.000002	T	0.74465	0.3720	L	0.52126	1.63	0.53688	D	0.999972	P;P;P	0.42375	0.778;0.728;0.498	B;B;B	0.44044	0.358;0.439;0.121	T	0.76680	-0.2870	10	0.52906	T	0.07	-7.3641	17.8058	0.88600	0.0:1.0:0.0:0.0	.	246;246;273	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	Q	273;273;246;246;118;118	ENSP00000451320:P273Q;ENSP00000452479:P273Q;ENSP00000216727:P246Q;ENSP00000380446:P246Q;ENSP00000451970:P118Q;ENSP00000450724:P118Q	ENSP00000216727:P246Q	P	+	2	0	PABPN1;RP11-124D2.2	22863194	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	4.134000	0.57990	2.581000	0.87130	0.655000	0.94253	CCA		0.507	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		5	81	5	81	---	---	---	---	A	23793354	C	A	23793354	3	1	130	1	0	0	0	0	1	0	0	0	11368	594	21	1	759	1	PABPN1	14	23793354	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		23793354	83556186	183	6087										
MYH6	4624	broad.mit.edu	37	chr14	23855798	23855798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgaactctagctgggccCggaggatcttgccctcctcg	13	13	2	1	rs371068881		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.chr14:23855798C>A	ENST00000356287.3	-	32	4714	c.4685G>T	c.(4684-4686)cGg>cTg	p.R1562L	MYH6_ENST00000405093.3_Missense_Mutation_p.R1562L|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1562					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)		TAGCTGGGCCCGGAGGATCTT	0.642																																						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.(4684-4686)cGg>cTg		myosin, heavy chain 6, cardiac muscle, alpha		C	LEU/ARG	0,4406		0,0,2203	123	128	127		4685	4.3	1	14		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	1562/1940	23855798	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.chr14:23855798C>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.4685G>T	14.37:g.23855798C>A	ENSP00000348634:p.Arg1562Leu		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.R1562L	p.R1562L	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4755	-	all_cancers(95;2.54e-05)		1562					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4685G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.965847	0.92855	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84589	-1.87;-1.87	4.35	4.35	0.52113	Myosin tail (1);	.	.	.	.	D	0.94791	0.8318	H	0.96691	3.865	0.58432	D	0.999997	D	0.58970	0.984	D	0.65684	0.937	D	0.96903	0.9661	9	0.87932	D	0	.	17.2605	0.87068	0.0:1.0:0.0:0.0	.	1562	P13533	MYH6_HUMAN	L	1562	ENSP00000386041:R1562L;ENSP00000348634:R1562L	ENSP00000348634:R1562L	R	-	2	0	MYH6	22925638	0.673000	0.27539	0.994000	0.49952	0.998000	0.95712	6.005000	0.70716	2.110000	0.64415	0.561000	0.74099	CGG		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	214	5	214	---	---	---	---	A	23855798	C	A	23855798	3	1	130	1	0	0	0	0	1	0	0	0	10038	652	23	1	1162	1	MYH6	14	23855798	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	62444	23855798	83493742	184	6088										
RIPK3	11035	broad.mit.edu	37	chr14	24808680	24808680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgagtttacgatcttgacCgccacatcgtagccccactt	7	15	1	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.chr14:24808680C>A	ENST00000216274.5	-	2	362	c.144G>T	c.(142-144)gcG>gcT	p.A48A	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|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)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CGATCTTGACCGCCACATCGT	0.602																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(142-144)gcG>gcT		receptor-interacting serine-threonine kinase 3							121	123	122					14																	24808680		2203	4300	6503	SO:0001819	synonymous_variant	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808680C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.144G>T	14.37:g.24808680C>A			Somatic				RIPK3_ENST00000554338.1_5'UTR	p.A48A	NM_006871.3	NP_006862.2	WXS	Illumina GAIIx	Phase_I	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	362	-			48			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	c.144G>T	CCDS9628.1																																																																																				0.602	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		5	204	5	204	---	---	---	---	A	24808680	C	A	24808680	2	1	130	1	0	0	0	0	0	0	0	1	13382	639	23	1		1	RIPK3	14	24808680	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	952882	24808680	82540860	185	6089										
NFATC4	4776	broad.mit.edu	37	chr14	24845950	24845950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtgatgtgcatcccctacCtgctgagggatacaataagg	12	9	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.chr14:24845950C>A	ENST00000250373.4	+	9	2648	c.2507C>A	c.(2506-2508)cCt>cAt	p.P836H	NFATC4_ENST00000413692.2_Missense_Mutation_p.P899H|NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	836	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATCCCCTACCTGCTGAGGGA	0.637																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2695-2697)cCt>cAt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							62	71	68					14																	24845950		2203	4299	6502	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845950C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2507C>A	14.37:g.24845950C>A	ENSP00000250373:p.Pro836His		Somatic				NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000250373.4_Missense_Mutation_p.P836H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron	p.P899H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	10	2840	+			836					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2696C>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777827	0.70107	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	3.24;3.32;3.26;3.25;3.31;3.32;3.27;3.0;3.0;2.94;2.95;2.99;1.53;1.52;0.34;0.81	5.65	5.65	0.86999	.	0.108396	0.42420	D	0.000711	T	0.55097	0.1899	N	0.14661	0.345	0.40401	D	0.979641	D;D;D;D;D;D;D;D;D	0.71674	0.985;0.994;0.985;0.992;0.997;0.998;0.992;0.997;0.975	P;P;P;P;D;D;P;D;P	0.63192	0.789;0.847;0.694;0.875;0.912;0.912;0.875;0.912;0.498	T	0.58907	-0.7553	10	0.44086	T	0.13	-3.8924	17.2199	0.86954	0.0:1.0:0.0:0.0	.	824;868;849;849;899;899;824;868;836	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	899;849;849;868;868;836;836;766;766;766;824;824;371;371;124;124	ENSP00000388910:P899H;ENSP00000451224:P849H;ENSP00000388668:P849H;ENSP00000439350:P868H;ENSP00000452270:P868H;ENSP00000250373:P836H;ENSP00000450590:P836H;ENSP00000452349:P766H;ENSP00000450469:P766H;ENSP00000451284:P766H;ENSP00000396788:P824H;ENSP00000450686:P824H;ENSP00000451183:P371H;ENSP00000451395:P371H;ENSP00000451801:P124H;ENSP00000451590:P124H	ENSP00000250373:P836H	P	+	2	0	NFATC4	23915790	0.874000	0.30092	0.949000	0.38748	0.972000	0.66771	3.263000	0.51546	2.667000	0.90743	0.561000	0.74099	CCT		0.637	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		6	136	6	136	---	---	---	---	A	24845950	C	A	24845950	3	1	130	1	0	0	0	0	1	0	0	0	10365	681	24	1	2734	1	NFATC4	14	24845950	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	37270	24845950	82503590	186	6090										
DCAF5	8816	broad.mit.edu	37	chr14	69542088	69542088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggatctgcaggaattctcCacatgtacaggttgaagtca	10	9	3	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.chr14:69542088C>A	ENST00000341516.5	-	7	1067	c.920G>T	c.(919-921)tGg>tTg	p.W307L	DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	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	307					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						AGGAATTCTCCACATGTACAG	0.383																																						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.(919-921)tGg>tTg		DDB1 and CUL4 associated factor 5							153	156	155					14																	69542088		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69542088C>A	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.920G>T	14.37:g.69542088C>A	ENSP00000341351:p.Trp307Leu		Somatic				DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	p.W307L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	WXS	Illumina GAIIx	Phase_I	Q96JK2	DCAF5_HUMAN			7	1067	-			307					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.920G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038542	0.75617	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.28	4.37	0.52481	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	0.73016	0.3533	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.81656	-0.0834	10	0.87932	D	0	-8.5004	13.9921	0.64374	0.1528:0.8472:0.0:0.0	.	306;307	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	307;225;225;306	ENSP00000341351:W307L;ENSP00000451551:W225L;ENSP00000452052:W225L;ENSP00000451845:W306L	ENSP00000341351:W307L	W	-	2	0	DCAF5	68611841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.000000	0.70678	1.399000	0.46721	0.585000	0.79938	TGG		0.383	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		7	294	7	294	---	---	---	---	A	69542088	C	A	69542088	3	1	130	1	0	0	0	0	1	0	0	0	4273	595	21	1	1920	1	DCAF5	14	69542088	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	44696138	69542088	37807452	187	6091										
DYNC1H1	1778	broad.mit.edu	37	chr14	102452969	102452969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagcggaacaccatttccCttttggtggctggcttgaaa	12	9	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.chr14:102452969C>A	ENST00000360184.4	+	8	2571	c.2407C>A	c.(2407-2409)Ctt>Att	p.L803I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	803	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						CACCATTTCCCTTTTGGTGGC	0.522																																						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.(2407-2409)Ctt>Att		dynein, cytoplasmic 1, heavy chain 1							138	128	131					14																	102452969		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.chr14:102452969C>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.2407C>A	14.37:g.102452969C>A	ENSP00000348965:p.Leu803Ile		Somatic					p.L803I	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			8	2571	+			803			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2407C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	4.826	0.153552	0.09185	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.066172	0.64402	D	0.000007	T	0.38772	0.1053	N	0.16307	0.4	0.58432	D	0.999998	P	0.37141	0.584	B	0.40782	0.34	T	0.15954	-1.0419	10	0.17832	T	0.49	.	13.0636	0.59020	0.0:0.9264:0.0:0.0736	.	803	Q14204	DYHC1_HUMAN	I	803	ENSP00000348965:L803I	ENSP00000348965:L803I	L	+	1	0	DYNC1H1	101522722	1.000000	0.71417	0.058000	0.19502	0.167000	0.22549	5.704000	0.68347	2.767000	0.95098	0.655000	0.94253	CTT		0.522	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	145	6	145	---	---	---	---	A	102452969	C	A	102452969	3	1	130	1	0	0	0	0	1	0	0	0	4841	681	24	1	2437	1	DYNC1H1	14	102452969	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	32910881	102452969	4896571	188	6092										
HERC2	8924	broad.mit.edu	37	chr15	28375705	28375705	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaaactgggatccgcattcCactttaactactccaagacc	6	13	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.chr15:28375705C>A	ENST00000261609.7	-	82	12714	c.12606G>T	c.(12604-12606)gtG>gtT	p.V4202V		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)		ATCCGCATTCCACTTTAACTA	0.423																																						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.(12604-12606)gtG>gtT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							175	187	183					15																	28375705		2203	4300	6503	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.chr15:28375705C>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.12606G>T	15.37:g.28375705C>A			Somatic					p.V4202V	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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)	82	12714	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4202						Silent	SNP	ENST00000261609.7	37	c.12606G>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	229	6	229	---	---	---	---	A	28375705	C	A	28375705	2	1	130	1	0	0	0	0	0	0	0	1	7058	581	21	1		1	HERC2	15	28375705	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		28375705	74155687	189	6093										
FRMD5	84978	broad.mit.edu	37	chr15	44211981	44211981	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacatctcaattgtttcacCacagactttgtaaattccag	4	10	2	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.chr15:44211981C>A	ENST00000417257.1	-	3	410	c.234G>T	c.(232-234)gtG>gtT	p.V78V	FRMD5_ENST00000484674.1_5'UTR|FRMD5_ENST00000402883.1_Silent_p.V78V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	78	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATTGTTTCACCACAGACTTTG	0.408																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(232-234)gtG>gtT		FERM domain containing 5							73	79	77					15																	44211981		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44211981C>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.234G>T	15.37:g.44211981C>A			Somatic				FRMD5_ENST00000402883.1_Silent_p.V78V|FRMD5_ENST00000484674.1_5'UTR	p.V78V	NM_032892.3	NP_116281.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	3	410	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	78			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.234G>T	CCDS10107.2																																																																																				0.408	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		5	77	5	77	---	---	---	---	A	44211981	C	A	44211981	2	1	130	1	0	0	0	0	0	0	0	1	6053	581	21	1		1	FRMD5	15	44211981	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	15836276	44211981	58319411	190	6094										
SHF	90525	broad.mit.edu	37	chr15	45467512	45467512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctggcaggcgggactccCggggccagggggccccctca	16	17	2	0			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.chr15:45467512C>A	ENST00000560734.1	-	3	752	c.752G>T	c.(751-753)cGg>cTg	p.R251L	RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000290894.8_Missense_Mutation_p.R186L					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCGGGACTCCCGGGGCCAGGG	0.627																																						ENST00000290894.8																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(556-558)cGg>cTg		Src homology 2 domain containing F							19	21	20					15																	45467512		2198	4292	6490	SO:0001583	missense	90525							g.chr15:45467512C>A	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.752G>T	15.37:g.45467512C>A	ENSP00000453168:p.Arg251Leu		Somatic				RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000560734.1_Missense_Mutation_p.R251L	p.R186L	NM_138356.2	NP_612365	WXS	Illumina GAIIx	Phase_I	B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	4	1051	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	186						Missense_Mutation	SNP	ENST00000560734.1	37	c.557G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.183354	0.78677	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.32023	1.47;1.47;1.47	5.25	5.25	0.73442	.	0.058126	0.64402	D	0.000002	T	0.48768	0.1518	L	0.48362	1.52	0.80722	D	1	P;D;D;D;P	0.76494	0.771;0.99;0.999;0.998;0.912	B;P;D;D;P	0.69307	0.436;0.691;0.963;0.952;0.57	T	0.47812	-0.9088	10	0.72032	D	0.01	-6.0865	16.3446	0.83118	0.0:1.0:0.0:0.0	.	49;186;176;243;186	Q8N9I8;E7EV73;E7EWB7;F8W6K9;Q7M4L6	.;.;.;.;SHF_HUMAN	L	186;186;243;49;176	ENSP00000290894:R186L;ENSP00000315978:R243L;ENSP00000411530:R49L	ENSP00000290894:R186L	R	-	2	0	SHF	43254804	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.274000	0.78538	2.446000	0.82766	0.491000	0.48974	CGG		0.627	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356		3	15	3	15	---	---	---	---	A	45467512	C	A	45467512	3	1	130	1	0	0	0	0	1	0	0	0	14277	652	23	1	734	1	SHF	15	45467512	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1255531	45467512	57063880	191	6095										
GNB5	10681	broad.mit.edu	37	chr15	52433337	52433337	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgggggctgcctatttacCtgcatgtcagagttggtgaa	13	9	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.chr15:52433337C>A	ENST00000261837.7	-	7	692	c.627G>T	c.(625-627)caG>caT	p.Q209H	GNB5_ENST00000396335.4_Intron|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Splice_Site_p.Q167H|CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000559348.1_5'Flank	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	209					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)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTATTTACCTGCATGTCAG	0.507																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(625-627)caG>caT		guanine nucleotide binding protein (G protein), beta 5							106	97	100					15																	52433337		2195	4293	6488	SO:0001630	splice_region_variant	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52433337C>A	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.627+1G>T	15.37:g.52433337C>A			Somatic				GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Splice_Site_p.Q167H	p.Q209H	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	O14775	GBB5_HUMAN		all cancers(107;0.0163)	7	692	-			209					B2RBR5|Q9HAU9|Q9UFT3	Splice_Site	SNP	ENST00000261837.7	37	c.627G>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222293	0.79464	.	.	ENSG00000069966	ENST00000261837;ENST00000396335	T	0.59502	0.26	5.17	4.25	0.50352	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	0.63838	0.2545	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62086	-0.6928	9	.	.	.	-27.5046	13.9666	0.64213	0.0:0.9269:0.0:0.0731	.	209	O14775	GBB5_HUMAN	H	209;167	ENSP00000261837:Q209H	.	Q	-	3	2	GNB5	50220629	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.776000	0.68924	1.403000	0.46800	0.561000	0.74099	CAG		0.507	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1		Missense_Mutation	6	87	6	87	---	---	---	---	A	52433337	C	A	52433337	5	1	130	1	0	0	0	0	0	0	1	0	6521	695	24	1	588	1	GNB5	15	52433337	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	6965825	52433337	50098055	192	6096										
ISLR	3671	broad.mit.edu	37	chr15	74468100	74468100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacccctgtggccagctccCagccgcgcttccaggccttt	10	19	0	0			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.chr15:74468100C>A	ENST00000249842.3	+	2	1258	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	301	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						GGCCAGCTCCCAGCCGCGCTT	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(901-903)Cag>Aag		immunoglobulin superfamily containing leucine-rich repeat							57	60	59					15																	74468100		2198	4296	6494	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74468100C>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.901C>A	15.37:g.74468100C>A	ENSP00000249842:p.Gln301Lys		Somatic				ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	p.Q301K	NM_005545.3	NP_005536.1	WXS	Illumina GAIIx	Phase_I	O14498	ISLR_HUMAN			2	1258	+			301			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.901C>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.839257	0.00573	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.66460	-0.21;-0.21	4.37	2.41	0.29592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.410307	0.17162	U	0.184658	T	0.49355	0.1552	L	0.32530	0.975	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.26916	-1.0089	10	0.05959	T	0.93	.	11.9747	0.53085	0.3324:0.6676:0.0:0.0	.	301	O14498	ISLR_HUMAN	K	301	ENSP00000249842:Q301K;ENSP00000378550:Q301K	ENSP00000249842:Q301K	Q	+	1	0	ISLR	72255153	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.504000	0.22626	0.265000	0.21872	0.313000	0.20887	CAG		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		7	122	7	122	---	---	---	---	A	74468100	C	A	74468100	3	1	130	1	0	0	0	0	1	0	0	0	7858	595	21	1	903	1	ISLR	15	74468100	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	22034763	74468100	28063292	193	6097										
UBL7	84993	broad.mit.edu	37	chr15	74740896	74740896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcattggtgatgggcgtccCtgactggacaccagaggaca	13	10	1	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.chr15:74740896C>A	ENST00000567435.1	-	10	1391	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W|UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W			Q96S82	UBL7_HUMAN	ubiquitin-like 7	310										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ATGGGCGTCCCTGACTGGACA	0.557																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(928-930)Ggg>Tgg		ubiquitin-like 7 (bone marrow stromal cell-derived)							255	231	239					15																	74740896		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74740896C>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived ubiquitin-like", " ubiquitin-like protein SB132"	609748	"ubiquitin-like 7 (bone marrow stromal cell-derived)"			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.928G>T	15.37:g.74740896C>A	ENSP00000457703:p.Gly310Trp		Somatic				UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W	p.G310W			WXS	Illumina GAIIx	Phase_I	Q96S82	UBL7_HUMAN			10	1391	-			310					D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.928G>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964169	0.74131	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.55588	0.51;0.51	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66496	-0.5909	10	0.59425	D	0.04	-10.7034	16.8509	0.85993	0.0:1.0:0.0:0.0	.	350;310	D3DW56;Q96S82	.;UBL7_HUMAN	W	310	ENSP00000354883:G310W;ENSP00000378518:G310W	ENSP00000354883:G310W	G	-	1	0	UBL7	72527949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.724000	0.68500	2.307000	0.77673	0.462000	0.41574	GGG		0.557	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		8	290	8	290	---	---	---	---	A	74740896	C	A	74740896	3	1	130	1	0	0	0	0	1	0	0	0	16887	681	24	1	222	1	UBL7	15	74740896	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	272796	74740896	27790496	194	6098										
LINGO1	84894	broad.mit.edu	37	chr15	77906909	77906909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggcgggtcgccatcggccCggcacacaaactgcaccgtg	14	16	0	0			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.chr15:77906909C>A	ENST00000355300.6	-	2	1514	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	447	Ig-like C2-type.				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						GCCATCGGCCCGGCACACAAA	0.667																																						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.(1339-1341)cGg>cTg		leucine rich repeat and Ig domain containing 1							12	16	15					15																	77906909		2094	4185	6279	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906909C>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.1340G>T	15.37:g.77906909C>A	ENSP00000347451:p.Arg447Leu		Somatic				LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	p.R447L	NM_032808.5	NP_116197.4	WXS	Illumina GAIIx	Phase_I	Q96FE5	LIGO1_HUMAN			2	1514	-			447			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1340G>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824054	0.16678	.	.	ENSG00000169783	ENST00000355300	T	0.68025	-0.3	4.55	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057228	0.64402	D	0.000001	T	0.62245	0.2412	L	0.45744	1.44	0.58432	D	0.999994	B	0.06786	0.001	B	0.09377	0.004	T	0.61926	-0.6962	10	0.56958	D	0.05	.	17.3021	0.87185	0.0:1.0:0.0:0.0	.	447	Q96FE5	LIGO1_HUMAN	L	447	ENSP00000347451:R447L	ENSP00000347451:R447L	R	-	2	0	LINGO1	75693964	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	6.023000	0.70848	2.074000	0.62210	0.462000	0.41574	CGG		0.667	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	16	3	16	---	---	---	---	A	77906909	C	A	77906909	3	1	130	1	0	0	0	0	1	0	0	0	8814	652	23	1	526	1	LINGO1	15	77906909	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3166013	77906909	24624483	195	6099										
CHRNA3	1136	broad.mit.edu	37	chr15	78893932	78893932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtcatgaacatgaccctgGggagcaggttcaagaataca	12	8	2	3	rs199926819		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.chr15:78893932G>T	ENST00000326828.5	-	5	1436	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	351					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|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)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CATGACCCTGGGGAGCAGGTT	0.552																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1051-1053)cCc>cAc		cholinergic receptor, nicotinic, alpha 3 (neuronal)							118	109	112					15																	78893932		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893932G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1052C>A	15.37:g.78893932G>T	ENSP00000315602:p.Pro351His		Somatic				CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	p.P351H	NM_000743.4	NP_000734.2	WXS	Illumina GAIIx	Phase_I	P32297	ACHA3_HUMAN			5	1436	-			351					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1052C>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803771	0.90623	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.75589	-0.95;-0.95	6.02	6.02	0.97574	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93821	0.7119	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	351;351	P32297;P32297-3	ACHA3_HUMAN;.	H	351;351;215	ENSP00000267951:P351H;ENSP00000315602:P351H	ENSP00000315602:P351H	P	-	2	0	CHRNA3	76680987	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.839000	0.99476	2.865000	0.98341	0.655000	0.94253	CCC		0.552	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			8	100	8	100	---	---	---	---	T	78893932	G	T	78893932	3	4	130	1	0	0	0	0	1	0	0	0	3384	1232	43	1	558	1	CHRNA3	15	78893932	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	987023	78893932	23637460	196	6100										
ARNT2	9915	broad.mit.edu	37	chr15	80883998	80883998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaccatggccagcagagcGgtgagcagcactcccaccag	12	15	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.chr15:80883998G>T	ENST00000303329.4	+	18	2173	c.2008G>T	c.(2008-2010)Ggt>Tgt	p.G670C	ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000533983.1_Missense_Mutation_p.G659C	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	670					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)			CCAGCAGAGCGGTGAGCAGCA	0.597																																						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.(1975-1977)Ggt>Tgt		aryl-hydrocarbon receptor nuclear translocator 2							117	112	114					15																	80883998		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.chr15:80883998G>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.2008G>T	15.37:g.80883998G>T	ENSP00000307479:p.Gly670Cys		Somatic				ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000303329.4_Missense_Mutation_p.G670C	p.G659C			WXS	Illumina GAIIx	Phase_I	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		19	2314	+			670					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1975G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876752	0.72180	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.07800	3.16	5.07	2.81	0.32909	.	0.232728	0.43919	D	0.000517	T	0.11110	0.0271	L	0.34521	1.04	0.58432	D	0.999995	D	0.58970	0.984	P	0.52909	0.713	T	0.04041	-1.0982	10	0.72032	D	0.01	.	8.8604	0.35253	0.3245:0.0:0.6755:0.0	.	670	Q9HBZ2	ARNT2_HUMAN	C	659;670	ENSP00000307479:G670C	ENSP00000307479:G670C	G	+	1	0	ARNT2	78671053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.014000	0.49590	1.125000	0.41998	0.313000	0.20887	GGT		0.597	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			4	116	4	116	---	---	---	---	T	80883998	G	T	80883998	3	4	130	1	0	0	0	0	1	0	0	0	966	1116	39	1	2078	1	ARNT2	15	80883998	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	1990066	80883998	21647394	197	6101										
AGBL1	123624	broad.mit.edu	37	chr15	87531319	87531319	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttcttctgcatgtctcccCgtgagtatgtcagtttcctg	8	13	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.chr15:87531319C>A	ENST00000441037.2	+	23	3280	c.3185C>A	c.(3184-3186)cCa>cAa	p.P1062Q	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.P1062Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1062			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		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						catgtctccccgtgagtatgt	0.413																																						ENST00000421325.2																			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.(3184-3186)cCg>cAg		ATP/GTP binding protein-like 1							204	193	197					15																	87531319		1888	4105	5993	SO:0001630	splice_region_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531319C>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.3185+1C>A	15.37:g.87531319C>A			Somatic				RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000441037.2_Splice_Site_p.P1062Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q	p.P1062Q			WXS	Illumina GAIIx	Phase_I	Q96MI9	CBPC4_HUMAN			22	3185	+			1062					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3185C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	0.582	-0.836650	0.02692	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10668	2.88;2.85	1.11	-1.5	0.08691	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37033	-0.9723	9	0.87932	D	0	.	2.8092	0.05436	0.3712:0.2493:0.3795:0.0	.	1062	Q96MI9	CBPC4_HUMAN	Q	1062;793	ENSP00000397173:P1062Q;ENSP00000373949:P793Q	ENSP00000373949:P793Q	P	+	2	0	AGBL1	85332323	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.242000	0.02908	-1.130000	0.02914	-1.402000	0.01139	CCG		0.413	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Missense_Mutation	7	180	7	180	---	---	---	---	A	87531319	C	A	87531319	5	1	130	1	0	0	0	0	0	0	1	0	375	666	23	1	3271	1	AGBL1	15	87531319	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	6647321	87531319	15000073	198	6102										
FES	2242	broad.mit.edu	37	chr15	91437271	91437271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcagcaatcagcagacacGggagtttgtggagaagggta	14	8	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.chr15:91437271G>T	ENST00000328850.3	+	18	2451	c.2309G>T	c.(2308-2310)cGg>cTg	p.R770L	FES_ENST00000450438.2_Missense_Mutation_p.R642L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000394302.1_Missense_Mutation_p.R629L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAGCAGACACGGGAGTTTGTG	0.577																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2308-2310)cGg>cTg		feline sarcoma oncogene							178	190	186					15																	91437271		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437271G>T	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.2309G>T	15.37:g.91437271G>T	ENSP00000331504:p.Arg770Leu		Somatic				FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394302.1_Missense_Mutation_p.R629L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000450438.2_Missense_Mutation_p.R642L	p.R770L	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	P07332	FES_HUMAN	Lung(145;0.229)		18	2451	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		770			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2309G>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943135	0.53079	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.42	4.51	0.55191	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	0.50735	0.1633	N	0.01705	-0.755	0.80722	D	1	D;B;D;D;B;D	0.89917	1.0;0.228;0.999;1.0;0.228;1.0	D;B;D;D;B;D	0.91635	0.999;0.156;0.997;0.998;0.156;0.999	T	0.63193	-0.6692	10	0.37606	T	0.19	-57.1808	14.3077	0.66395	0.0715:0.0:0.9285:0.0	.	752;642;629;712;700;770	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	770;642;629;700;712;642	ENSP00000331504:R770L;ENSP00000414629:R642L;ENSP00000377839:R629L;ENSP00000400868:R700L;ENSP00000377837:R712L;ENSP00000409915:R642L	ENSP00000331504:R770L	R	+	2	0	FES	89238275	1.000000	0.71417	0.990000	0.47175	0.464000	0.32679	9.805000	0.99149	1.317000	0.45149	0.555000	0.69702	CGG		0.577	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		7	319	7	319	---	---	---	---	T	91437271	G	T	91437271	3	4	130	1	0	0	0	0	1	0	0	0	5820	1116	39	1	2375	1	FES	15	91437271	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3905952	91437271	11094121	199	6103										
HDDC3	374659	broad.mit.edu	37	chr15	91475004	91475004	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcttcaccagtttggccccGgggctactgtggggcgcttg	15	12	1	0			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.chr15:91475004G>T	ENST00000394272.3	-	3	367	c.339C>A	c.(337-339)ccC>ccA	p.P113P	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000330334.3_Silent_p.P113P|HDDC3_ENST00000559898.1_Silent_p.P113P|AC068831.3_ENST00000438890.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3	113	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)			GTTTGGCCCCGGGGCTACTGT	0.582											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.(337-339)ccC>ccA		HD domain containing 3							73	81	78					15																	91475004		2198	4298	6496	SO:0001819	synonymous_variant	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475004G>T	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.339C>A	15.37:g.91475004G>T			Somatic	OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	HDDC3_ENST00000559898.1_Silent_p.P113P|HDDC3_ENST00000394272.3_Silent_p.P113P|UNC45A_ENST00000394275.2_Intron	p.P113P	NM_198527.2	NP_940929.1	WXS	Illumina GAIIx	Phase_I	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		3	344	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		113			HD.			Silent	SNP	ENST00000394272.3	37	c.339C>A																																																																																					0.582	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		7	183	7	183	---	---	---	---	T	91475004	G	T	91475004	2	4	130	1	0	0	0	0	0	0	0	1	7017	1103	39	1		1	HDDC3	15	91475004	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	37733	91475004	11056388	200	6104										
PRC1	9055	broad.mit.edu	37	chr15	91524744	91524744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtacctgccgtagcaacttTtgtagtgttgcaatattctc	8	9	1	0			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-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q					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			Somatic				PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1_ENST00000361919.3_Silent_p.Q219Q	p.Q219Q			WXS	Illumina GAIIx	Phase_I	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	4	57	---	---	---	---	C	91524744	T	C	91524744	2	2	130	1	0	0	0	0	0	0	0	1	12446	1838	64	2		2	PRC1	15	91524744	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08	49740	91524744	11006648	201	6105										
ITFG3	83986	broad.mit.edu	37	chr16	314923	314923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaggtgcgggaccttgtcCcaagcagcagggtggtccgc	15	12	0	0			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.chr16:314923C>A	ENST00000399932.3	+	13	2012	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000600536.1_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	521						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)				GGACCTTGTCCCAAGCAGCAG	0.657																																						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.(1561-1563)Cca>Aca		integrin alpha FG-GAP repeat containing 3							41	50	47					16																	314923		2098	4208	6306	SO:0001583	missense	83986					integral to membrane		g.chr16:314923C>A	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.1561C>A	16.37:g.314923C>A	ENSP00000382814:p.Pro521Thr		Somatic				ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron	p.P521T	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	Q9H0X4	ITFG3_HUMAN			13	2012	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	521					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.1561C>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.028049	0.00410	.	.	ENSG00000167930	ENST00000399932;ENST00000301678	.	.	.	5.01	3.0	0.34707	.	1.251490	0.05302	N	0.523246	T	0.29126	0.0724	L	0.38175	1.15	0.09310	N	0.999998	B	0.21225	0.053	B	0.17722	0.019	T	0.25950	-1.0117	9	0.02654	T	1	-2.7594	5.486	0.16749	0.0:0.51:0.315:0.175	.	521	Q9H0X4	ITFG3_HUMAN	T	521	.	ENSP00000301678:P521T	P	+	1	0	ITFG3	254924	0.000000	0.05858	0.004000	0.12327	0.790000	0.44656	-0.004000	0.12878	0.486000	0.27676	0.561000	0.74099	CCA		0.657	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		5	62	5	62	---	---	---	---	A	314923	C	A	314923	3	1	130	1	0	0	0	0	1	0	0	0	7871	623	22	1	1603	1	ITFG3	16	314923	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		314923	90039830	202	6106										
GLYR1	84656	broad.mit.edu	37	chr16	4882096	4882096	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccctcttctttccttctcCcatgttcttcttcaccttcc	1	19	6	0			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.chr16:4882096C>A	ENST00000321919.9	-	5	497	c.421G>T	c.(421-423)Gga>Tga	p.G141*	GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	141					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTTCTCCCATGTTCTTC	0.522																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(421-423)Gga>Tga		glyoxylate reductase 1 homolog (Arabidopsis)							176	161	166					16																	4882096		2197	4300	6497	SO:0001587	stop_gained	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882096C>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.421G>T	16.37:g.4882096C>A	ENSP00000322716:p.Gly141*		Somatic				GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	p.G141*	NM_032569.3	NP_115958	WXS	Illumina GAIIx	Phase_I	Q49A26	GLYR1_HUMAN			5	497	-			141					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Nonsense_Mutation	SNP	ENST00000321919.9	37	c.421G>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565152	0.96527	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	.	.	.	5.29	5.29	0.74685	.	0.236182	0.43260	D	0.000597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.1445	16.7894	0.85584	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000322716:G141X	G	-	1	0	GLYR1	4822097	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.583000	0.53928	2.634000	0.89283	0.650000	0.86243	GGA		0.522	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		6	163	6	163	---	---	---	---	A	4882096	C	A	4882096	4	1	130	1	0	0	0	0	0	1	0	0	6483	632	22	1	1288	1	GLYR1	16	4882096	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4567173	4882096	85472657	203	6107										
ERCC4	2072	broad.mit.edu	37	chr16	14028088	14028088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctagaaagcaacccaaagtGggaggcactgactgaagtat	11	9	0	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.chr16:14028088G>T	ENST00000311895.7	+	7	1151	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	381	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCAAAGTGGGAGGCACTG	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1141-1143)tGg>tTg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							114	127	122					16																	14028088		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14028088G>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1142G>T	16.37:g.14028088G>T	ENSP00000310520:p.Trp381Leu		Somatic				CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.W381L	NM_005236.2	NP_005227.1	WXS	Illumina GAIIx	Phase_I	Q92889	XPF_HUMAN			7	1151	+			381					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1142G>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993318	0.93167	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.34859	1.34	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81024	-0.1120	10	0.87932	D	0	-18.4463	19.2867	0.94077	0.0:0.0:1.0:0.0	.	381	Q92889	XPF_HUMAN	L	381;370	ENSP00000310520:W381L	ENSP00000310520:W381L	W	+	2	0	ERCC4	13935589	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	TGG		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		6	159	6	159	---	---	---	---	T	14028088	G	T	14028088	3	4	130	1	0	0	0	0	1	0	0	0	5215	1357	47	1	1168	1	ERCC4	16	14028088	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	9145992	14028088	76326665	204	6108										
C16orf93	90835	broad.mit.edu	37	chr16	30771664	30771664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgctgacgtctgctccagtGagaagccctgctggcggcag	14	14	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.chr16:30771664G>T	ENST00000543610.1	-	4	1371	c.410C>A	c.(409-411)tCa>tAa	p.S137*	RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_3'UTR|RNF40_ENST00000563683.1_5'Flank|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*|RNF40_ENST00000357890.5_5'Flank|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|RNF40_ENST00000402121.3_5'Flank|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	137										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGCTCCAGTGAGAAGCCCTG	0.612																																						ENST00000543610.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(409-411)tCa>tAa		chromosome 16 open reading frame 93							66	73	71					16																	30771664		2197	4300	6497	SO:0001587	stop_gained	90835							g.chr16:30771664G>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.410C>A	16.37:g.30771664G>T	ENSP00000437532:p.Ser137*		Somatic				PHKG2_ENST00000424889.3_3'UTR|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*	p.S137*	NM_001014979.2	NP_001014979.2	WXS	Illumina GAIIx	Phase_I	A1A4V9	CP093_HUMAN			4	1371	-			137					A1A4V8|F5GX13|Q569G2	Nonsense_Mutation	SNP	ENST00000543610.1	37	c.410C>A	CCDS32434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.873258|5.873258	0.97049|0.97049	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610;ENST00000545825	.|.	.|.	.|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.221447	.|0.31872	.|N	.|0.006938	T|.	0.32071|.	0.0817|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18147|.	-1.0346|.	4|.	.|0.02654	.|T	.|1	-12.2442|-12.2442	10.3721|10.3721	0.44060|0.44060	0.0:0.0:0.6928:0.3072|0.0:0.0:0.6928:0.3072	.|.	.|.	.|.	.|.	N|X	34|100;137;137	.|.	.|ENSP00000347050:S100X	H|S	-|-	1|2	0|0	C16orf93|C16orf93	30679165|30679165	0.947000|0.947000	0.32204|0.32204	0.986000|0.986000	0.45419|0.45419	0.973000|0.973000	0.67179|0.67179	1.455000|1.455000	0.35190|0.35190	2.474000|2.474000	0.83562|0.83562	0.462000|0.462000	0.41574|0.41574	CAC|TCA		0.612	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		5	83	5	83	---	---	---	---	T	30771664	G	T	30771664	4	4	130	1	0	0	0	0	0	1	0	0	1846	1294	45	3	609	3	C16orf93	16	30771664	Nonsense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	16743576	30771664	59583089	205	6109										
BCKDK	10295	broad.mit.edu	37	chr16	31122021	31122021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggccagcctgactttgtcGgcatcatctgtactcgtctc	9	15	3	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.chr16:31122021G>T	ENST00000394951.1	+	9	1278	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	219	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						TGACTTTGTCGGCATCATCTG	0.572																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(655-657)Ggc>Tgc		branched chain ketoacid dehydrogenase kinase							124	126	125					16																	31122021		2197	4300	6497	SO:0001583	missense	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.chr16:31122021G>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.655G>T	16.37:g.31122021G>T	ENSP00000378405:p.Gly219Cys		Somatic				BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C|BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C	p.G219C			WXS	Illumina GAIIx	Phase_I	O14874	BCKD_HUMAN			9	1278	+			219			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.655G>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200366	0.79015	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.52	4.52	0.55395	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.049097	0.85682	D	0.000000	D	0.87394	0.6166	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91502	0.5220	10	0.87932	D	0	-24.3066	16.562	0.84569	0.0:0.0:1.0:0.0	.	219;219	Q96G95;O14874	.;BCKD_HUMAN	C	219	ENSP00000378405:G219C;ENSP00000219794:G219C;ENSP00000378404:G219C;ENSP00000287507:G219C	ENSP00000219794:G219C	G	+	1	0	BCKDK	31029522	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.278000	0.89899	2.503000	0.84419	0.655000	0.94253	GGC		0.572	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		7	210	7	210	---	---	---	---	T	31122021	G	T	31122021	3	4	130	1	0	0	0	0	1	0	0	0	1361	1116	39	1	681	1	BCKDK	16	31122021	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	350357	31122021	59232732	206	6110										
ITGAD	3681	broad.mit.edu	37	chr16	31422456	31422456	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggacagcgatggcagcacCgacctgatcctcattggggc	14	12	1	1	rs138291839	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.chr16:31422456C>A	ENST00000389202.2	+	13	1465	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	472					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						ATGGCAGCACCGACCTGATCC	0.647																																						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.(1414-1416)acC>acA		integrin, alpha D		C		0,4394		0,0,2197	76	72	74		1416	-7.6	0.3	16	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITGAD	NM_005353.2		0,2,6495	AA,AC,CC		0.0233,0.0,0.0154		472/1162	31422456	2,12992	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.chr16:31422456C>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.1416C>A	16.37:g.31422456C>A			Somatic					p.T472T	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1465	+			472					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1416C>A	CCDS32438.1																																																																																				0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	109	5	109	---	---	---	---	A	31422456	C	A	31422456	2	1	130	1	0	0	0	0	0	0	0	1	7884	639	23	1		1	ITGAD	16	31422456	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	300435	31422456	58932297	207	6111										
ITGAD	3681	broad.mit.edu	37	chr16	31427854	31427854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctgaccgtggggagctccCtggagctcaacgtgattgtg	14	12	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.chr16:31427854C>A	ENST00000389202.2	+	20	2435	c.2386C>A	c.(2386-2388)Ctg>Atg	p.L796M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	796					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						GGGGAGCTCCCTGGAGCTCAA	0.617																																						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.(2386-2388)Ctg>Atg		integrin, alpha D							109	98	102					16																	31427854		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427854C>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.2386C>A	16.37:g.31427854C>A	ENSP00000373854:p.Leu796Met		Somatic					p.L796M	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			20	2435	+			796					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2386C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106191	0.20632	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.45668	0.89	4.83	1.28	0.21552	Integrin alpha-2 (1);	.	.	.	.	T	0.42449	0.1203	M	0.71036	2.16	0.09310	N	0.999999	P;P	0.35192	0.489;0.489	B;B	0.40375	0.327;0.327	T	0.37454	-0.9705	9	0.48119	T	0.1	.	4.7726	0.13164	0.1611:0.6219:0.0:0.217	.	812;796	Q59H14;Q13349	.;ITAD_HUMAN	M	812;796	ENSP00000373854:L796M	ENSP00000373854:L796M	L	+	1	2	ITGAD	31335355	0.007000	0.16637	0.316000	0.25252	0.023000	0.10783	1.170000	0.31883	-0.028000	0.13850	-0.142000	0.14014	CTG		0.617	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	133	6	133	---	---	---	---	A	31427854	C	A	31427854	3	1	130	1	0	0	0	0	1	0	0	0	7884	680	24	1	2464	1	ITGAD	16	31427854	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5398	31427854	58926899	208	6112										
IRX5	10265	broad.mit.edu	37	chr16	54966433	54966433	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccctacgaccacacaccCggcatggcgggctccttggg	11	17	1	0			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.chr16:54966433C>A	ENST00000394636.4	+	2	610	c.273C>A	c.(271-273)ccC>ccA	p.P91P	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.P91P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Silent_p.P25P			P78411	IRX5_HUMAN	iroquois homeobox 5	91					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)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCACACACCCGGCATGGCGG	0.652																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(271-273)ccC>ccA		iroquois homeobox 5							43	49	47					16																	54966433		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.chr16:54966433C>A	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.273C>A	16.37:g.54966433C>A			Somatic				IRX5_ENST00000320990.5_Silent_p.P91P|IRX5_ENST00000558597.1_Silent_p.P25P|IRX5_ENST00000560154.1_Intron	p.P91P			WXS	Illumina GAIIx	Phase_I	P78411	IRX5_HUMAN			2	610	+			91					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.273C>A	CCDS10751.1																																																																																				0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			5	100	5	100	---	---	---	---	A	54966433	C	A	54966433	2	1	130	1	0	0	0	0	0	0	0	1	7847	639	23	1		1	IRX5	16	54966433	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	23538579	54966433	35388320	209	6113										
AMFR	267	broad.mit.edu	37	chr16	56423200	56423200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctctccttgatgttcttcCctgacacgattattgtcggc	7	12	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.chr16:56423200C>A	ENST00000290649.5	-	9	1383	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					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						GATGTTCTTCCCTGACACGAT	0.458																																					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.(1171-1173)agG>agT		autocrine motility factor receptor, E3 ubiquitin protein ligase							161	145	150					16																	56423200		2198	4300	6498	SO:0001583	missense	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.chr16:56423200C>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.1173G>T	16.37:g.56423200C>A	ENSP00000290649:p.Arg391Ser		Somatic					p.R391S	NM_001144.5	NP_001135.3	WXS	Illumina GAIIx	Phase_I	Q9UKV5	AMFR2_HUMAN			9	1383	-			391					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1173G>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585703	0.46110	.	.	ENSG00000159461	ENST00000290649	T	0.16597	2.33	5.92	2.4	0.29515	.	0.042152	0.85682	D	0.000000	T	0.13372	0.0324	L	0.51422	1.61	0.58432	D	0.999999	B	0.19706	0.038	B	0.20955	0.032	T	0.08330	-1.0727	10	0.30078	T	0.28	-20.3337	5.0418	0.14463	0.1222:0.6144:0.1191:0.1444	.	391	Q9UKV5	AMFR2_HUMAN	S	391	ENSP00000290649:R391S	ENSP00000290649:R391S	R	-	3	2	AMFR	54980701	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	0.359000	0.20233	0.811000	0.34303	0.585000	0.79938	AGG		0.458	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			6	105	6	105	---	---	---	---	A	56423200	C	A	56423200	3	1	130	1	0	0	0	0	1	0	0	0	571	622	22	1	782	1	AMFR	16	56423200	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1456767	56423200	33931553	210	6114										
CDH1	999	broad.mit.edu	37	chr16	68849503	68849503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggtctctctcaccacctCcacagccaccgtcaccgtgg	8	18	3	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.chr16:68849503C>A	ENST00000261769.5	+	10	1597	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y	CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|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)	469	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.?(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)		CTCACCACCTCCACAGCCACC	0.532			"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"		1	Unknown(1)	p.?(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.(1405-1407)tCc>tAc		cadherin 1, type 1, E-cadherin (epithelial)							170	144	153					16																	68849503		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.chr16:68849503C>A	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.1406C>A	16.37:g.68849503C>A	ENSP00000261769:p.Ser469Tyr		Somatic				RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|CDH1_ENST00000562836.1_3'UTR	p.S469Y	NM_004360.3	NP_004351.1	WXS	Illumina GAIIx	Phase_I	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)	10	1597	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	469			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1406C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251529	0.80135	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.57436	0.51;0.4	5.7	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.48286	D	0.000199	T	0.80199	0.4579	H	0.95437	3.67	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	D	0.86236	0.1640	10	0.87932	D	0	.	14.1897	0.65630	0.0:0.9277:0.0:0.0723	.	408;469	Q9UII8;P12830	.;CADH1_HUMAN	Y	469;487;469;408	ENSP00000261769:S469Y;ENSP00000414946:S408Y	ENSP00000261769:S469Y	S	+	2	0	CDH1	67407004	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	5.633000	0.67825	1.421000	0.47157	0.555000	0.69702	TCC		0.532	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		6	140	6	140	---	---	---	---	A	68849503	C	A	68849503	3	1	130	1	0	0	0	0	1	0	0	0	3095	855	30	3	1444	3	CDH1	16	68849503	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	12426303	68849503	21505250	211	6115										
WDR59	79726	broad.mit.edu	37	chr16	74919621	74919621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcgcttctctctcagaccCcaacggtagaggatttcccc	8	16	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.chr16:74919621C>A	ENST00000262144.6	-	25	2749	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	873										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTCTCAGACCCCAACGGTAGA	0.463																																						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.(2617-2619)tgG>tgT		WD repeat domain 59							111	102	105					16																	74919621		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74919621C>A	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.2619G>T	16.37:g.74919621C>A	ENSP00000262144:p.Trp873Cys		Somatic					p.W873C	NM_030581.3	NP_085058.3	WXS	Illumina GAIIx	Phase_I	Q6PJI9	WDR59_HUMAN			25	2749	-			873					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2619G>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352664	0.82132	.	.	ENSG00000103091	ENST00000262144	T	0.77489	-1.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91551	0.5257	10	0.87932	D	0	-15.3686	19.0883	0.93215	0.0:1.0:0.0:0.0	.	873;318	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	C	873	ENSP00000262144:W873C	ENSP00000262144:W873C	W	-	3	0	WDR59	73477122	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	TGG		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		6	84	6	84	---	---	---	---	A	74919621	C	A	74919621	3	1	130	1	0	0	0	0	1	0	0	0	17305	624	22	1	313	1	WDR59	16	74919621	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	6070118	74919621	15435132	212	6116										
OVCA2	124641	broad.mit.edu	37	chr17	1946353	1946353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcattccagcagctgcaccCcagcgtcaggcctacctcaa	7	17	3	0			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.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	DPH1_ENST00000263083.6_3'UTR|RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(637-639)ccC>ccA		ovarian tumor suppressor candidate 2							70	78	76					17																	1946353		2203	4300	6503	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1946353C>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	17.37:g.1946353C>A			Somatic	OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	p.P213P	NM_080822.2	NP_543012.1	WXS	Illumina GAIIx	Phase_I	Q8WZ82	OVCA2_HUMAN			2	654	+			213					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.639C>A	CCDS11015.1																																																																																				0.562	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		6	115	6	115	---	---	---	---	A	1946353	C	A	1946353	2	1	130	1	0	0	0	0	0	0	0	1	11322	610	22	1		1	OVCA2	17	1946353	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		1946353	79248857	213	6117										
DHX33	56919	broad.mit.edu	37	chr17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttctcatctgagactctaGtagcaagagagatggcagct	10	9	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.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		Somatic				DHX33_ENST00000433302.3_Intron	p.T137S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	WXS	Illumina GAIIx	Phase_I	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	3	157	---	---	---	---	C	5366889	G	C	5366889	3	2	130	1	0	0	0	0	1	0	0	0	4506	1029	36	4	1757	4	DHX33	17	5366889	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3420536	5366889	75828321	214	6118										
SHBG	6462	broad.mit.edu	37	chr17	7535319	7535319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acccatcttggctcagtctcCacctccaagatcaagtaaag	6	14	4	1	rs140325118		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.chr17:7535319C>A	ENST00000380450.4	+	6	869	c.838C>A	c.(838-840)Cac>Aac	p.H280N	SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	280	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GCTCAGTCTCCACCTCCAAGA	0.562																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(838-840)Cac>Aac		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						110	115	113					17																	7535319		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535319C>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.838C>A	17.37:g.7535319C>A	ENSP00000369816:p.His280Asn		Somatic				SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N	p.H280N	NM_001040.3	NP_001031.2	WXS	Illumina GAIIx	Phase_I	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	6	869	+		all_cancers(10;0.0867)	280			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.838C>A	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	C	0.964	-0.702265	0.03255	.	.	ENSG00000129214	ENST00000340624;ENST00000416273;ENST00000441313;ENST00000380450	D;D;T	0.87029	-2.2;-1.98;-1.23	4.52	-0.0608	0.13788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.711010	0.02572	N	0.097920	T	0.82167	0.4978	M	0.61703	1.905	0.19775	N	0.999956	B;P;B;B;B;B	0.38504	0.277;0.634;0.039;0.09;0.09;0.181	B;B;B;B;B;B	0.33620	0.109;0.167;0.023;0.014;0.051;0.022	T	0.64609	-0.6367	10	0.19590	T	0.45	-1.7004	4.1501	0.10234	0.0:0.5062:0.1862:0.3076	.	280;275;226;199;280;222	F5H5Z8;P04278-2;E9PH59;B0FWH5;P04278;B4DYU0	.;.;.;.;SHBG_HUMAN;.	N	222;280;226;280	ENSP00000345675:H222N;ENSP00000388867:H280N;ENSP00000369816:H280N	ENSP00000345675:H222N	H	+	1	0	SHBG	7476044	0.000000	0.05858	0.594000	0.28785	0.044000	0.14063	-0.331000	0.07914	0.171000	0.19730	-1.008000	0.02478	CAC		0.562	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		7	205	7	205	---	---	---	---	A	7535319	C	A	7535319	3	1	130	1	0	0	0	0	1	0	0	0	14269	594	21	1	860	1	SHBG	17	7535319	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2168430	7535319	73659891	215	6119										
DNAH2	146754	broad.mit.edu	37	chr17	7727981	7727981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctggctcagctccatccCccacccagacttccctatct	4	21	3	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.chr17:7727981C>A	ENST00000572933.1	+	77	13249	c.11789C>A	c.(11788-11790)cCc>cAc	p.P3930H	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3930	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(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)				AGCTCCATCCCCCACCCAGAC	0.552																																						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.(11788-11790)cCc>cAc		dynein, axonemal, heavy chain 2							139	118	125					17																	7727981		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.chr17:7727981C>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.11789C>A	17.37:g.7727981C>A	ENSP00000458355:p.Pro3930His		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H	p.P3930H			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			77	13249	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3930			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11789C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216103	0.79352	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.10668	2.85	4.41	4.41	0.53225	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	H	0.98866	4.355	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72338	0.961;0.977	T	0.73665	-0.3911	10	0.87932	D	0	.	15.9206	0.79562	0.0:1.0:0.0:0.0	.	3891;3930	Q9P225-2;Q9P225	.;DYH2_HUMAN	H	3891;3930	ENSP00000373825:P3930H	ENSP00000353818:P3891H	P	+	2	0	DNAH2	7668706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.274000	0.58921	2.292000	0.77174	0.505000	0.49811	CCC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	132	7	132	---	---	---	---	A	7727981	C	A	7727981	3	1	130	1	0	0	0	0	1	0	0	0	4602	623	22	1	12091	1	DNAH2	17	7727981	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	192662	7727981	73467229	216	6120										
RAB11FIP4	84440	broad.mit.edu	37	chr17	29849385	29849385	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctctctctagccccaacCgaaagatctccagcacggcc	6	17	3	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.chr17:29849385C>A	ENST00000325874.8	+	7	1130	c.901C>A	c.(901-903)Cga>Aga	p.R301R	RAB11FIP4_ENST00000394744.2_Silent_p.R199R	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	301	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)			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)				TAGCCCCAACCGAAAGATCTC	0.577																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(901-903)Cga>Aga		RAB11 family interacting protein 4 (class II)							142	124	130					17																	29849385		2203	4300	6503	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.chr17:29849385C>A	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.901C>A	17.37:g.29849385C>A			Somatic				RAB11FIP4_ENST00000394744.2_Silent_p.R199R	p.R301R	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			7	1130	+		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)	301			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	ENST00000325874.8	37	c.901C>A	CCDS11267.1																																																																																				0.577	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		5	117	5	117	---	---	---	---	A	29849385	C	A	29849385	2	1	130	1	0	0	0	0	0	0	0	1	12896	644	23	1		1	RAB11FIP4	17	29849385	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	22121404	29849385	51345825	217	6121										
C17orf66	256957	broad.mit.edu	37	chr17	34185976	34185976	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcaaggcctcaggaaaccCaggcacagggctgcctccag	12	15	1	0			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.chr17:34185976C>A	ENST00000311880.2	-	9	1003	c.855G>T	c.(853-855)ctG>ctT	p.L285L	C17orf66_ENST00000592980.1_Silent_p.L245L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		285					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)		TCAGGAAACCCAGGCACAGGG	0.567																																						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.(853-855)ctG>ctT		chromosome 17 open reading frame 66							94	77	82					17																	34185976		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34185976C>A																												ENST00000311880.2:c.855G>T	17.37:g.34185976C>A			Somatic				C17orf66_ENST00000592980.1_Silent_p.L245L	p.L285L	NM_152781.2	NP_689994.2	WXS	Illumina GAIIx	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	9	1003	-		Ovarian(249;0.17)	285					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.855G>T	CCDS11299.1																																																																																				0.567	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			5	80	5	80	---	---	---	---	A	34185976	C	A	34185976	2	1	130	1	0	0	0	0	0	0	0	1	1874	581	21	1		1	C17orf66	17	34185976	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4336591	34185976	47009234	218	6122										
MRPL45	84311	broad.mit.edu	37	chr17	36476512	36476512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcccttaggacatgacttGggacatcaaatataagaccg	9	9	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.chr17:36476512G>T	ENST00000312513.5	+	6	682	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	174						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACATGACTTGGGACATCAAA	0.473																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(520-522)tGg>tTg		mitochondrial ribosomal protein L45							192	181	185					17																	36476512		2203	4300	6503	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36476512G>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"Mitochondrial ribosomal proteins / large subunits"	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.521G>T	17.37:g.36476512G>T	ENSP00000308901:p.Trp174Leu		Somatic					p.W174L	NM_032351.4	NP_115727.4	WXS	Illumina GAIIx	Phase_I	Q9BRJ2	RM45_HUMAN			6	682	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	174					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.521G>T	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550190	0.27652	.	.	ENSG00000174100	ENST00000312513	T	0.75938	-0.98	5.0	4.03	0.46877	.	0.165657	0.51477	D	0.000096	T	0.67655	0.2916	L	0.44542	1.39	0.37624	D	0.921419	B	0.27013	0.166	B	0.31946	0.138	T	0.67055	-0.5767	10	0.29301	T	0.29	-0.389	13.2514	0.60053	0.0773:0.0:0.9227:0.0	.	174	Q9BRJ2	RM45_HUMAN	L	174	ENSP00000308901:W174L	ENSP00000308901:W174L	W	+	2	0	MRPL45	33730039	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	7.818000	0.86416	1.328000	0.45358	0.455000	0.32223	TGG		0.473	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		7	242	7	242	---	---	---	---	T	36476512	G	T	36476512	3	4	130	1	0	0	0	0	1	0	0	0	9809	1357	47	1	473	1	MRPL45	17	36476512	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2290536	36476512	44718698	219	6123										
PIP4K2B	8396	broad.mit.edu	37	chr17	36935636	36935636	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaaacacagagccctttacCttgaggtcatacttgcgatg	9	11	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.chr17:36935636C>A	ENST00000269554.3	-	5	1134	c.654G>T	c.(652-654)aaG>aaT	p.K218N	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	218	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|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)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCCCTTTACCTTGAGGTCAT	0.552																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(652-654)aaG>aaT		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							163	139	147					17																	36935636		2203	4300	6503	SO:0001630	splice_region_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36935636C>A	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.654+1G>T	17.37:g.36935636C>A			Somatic				PIP4K2B_ENST00000311500.6_5'UTR	p.K218N	NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			5	1134	-			218			PIPK.		Q5U0E8|Q8TBP2	Splice_Site	SNP	ENST00000269554.3	37	c.654G>T	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231757	0.95207	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	D	0.85171	-1.95	5.1	5.1	0.69264	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95825	0.8641	H	0.98802	4.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.993;0.987;0.996	D	0.97530	1.0079	9	.	.	.	-23.088	17.237	0.87001	0.0:1.0:0.0:0.0	.	218;218;218	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	N	218	ENSP00000269554:K218N	.	K	-	3	2	PIP4K2B	34189162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.649000	0.89929	0.655000	0.94253	AAG		0.552	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Missense_Mutation	6	156	6	156	---	---	---	---	A	36935636	C	A	36935636	5	1	130	1	0	0	0	0	0	0	1	0	11937	695	24	1	620	1	PIP4K2B	17	36935636	Splice_Site	SNP	C	TCGA-G9-6351-01A-21D-1961-08	459124	36935636	44259574	220	6124										
STAC2	342667	broad.mit.edu	37	chr17	37371269	37371269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcctcggtcagctcatccCgctcactctagggacagaga	9	15	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.chr17:37371269C>A	ENST00000333461.5	-	6	1076	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					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						CAGCTCATCCCGCTCACTCTA	0.627																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(706-708)cGg>cTg		SH3 and cysteine rich domain 2							162	148	153					17																	37371269		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371269C>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.707G>T	17.37:g.37371269C>A	ENSP00000327509:p.Arg236Leu		Somatic					p.R236L	NM_198993.3	NP_945344.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			6	1076	-			236					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.707G>T	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.916949	0.33815	.	.	ENSG00000141750	ENST00000333461	T	0.79352	-1.26	4.89	3.92	0.45320	.	0.629622	0.15044	N	0.283707	T	0.60650	0.2285	N	0.16368	0.405	0.33880	D	0.636058	B	0.25609	0.13	B	0.18871	0.023	T	0.62048	-0.6936	10	0.20046	T	0.44	-17.9164	11.2944	0.49269	0.0:0.9091:0.0:0.0909	.	236	Q6ZMT1	STAC2_HUMAN	L	236	ENSP00000327509:R236L	ENSP00000327509:R236L	R	-	2	0	STAC2	34624795	0.992000	0.36948	1.000000	0.80357	0.973000	0.67179	1.355000	0.34068	1.192000	0.43071	0.506000	0.49869	CGG		0.627	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		5	178	5	178	---	---	---	---	A	37371269	C	A	37371269	3	1	130	1	0	0	0	0	1	0	0	0	15239	652	23	1	552	1	STAC2	17	37371269	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	435633	37371269	43823941	221	6125										
FBXL20	84961	broad.mit.edu	37	chr17	37439105	37439105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctccaacagtggacatccCtcacttaggataaaacaaaa	6	11	1	0			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.chr17:37439105C>A	ENST00000264658.6	-	8	758	c.498G>T	c.(496-498)gaG>gaT	p.E166D	FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	166					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTGGACATCCCTCACTTAGGA	0.418																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(496-498)gaG>gaT		F-box and leucine-rich repeat protein 20							115	109	111					17																	37439105		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37439105C>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.498G>T	17.37:g.37439105C>A	ENSP00000264658:p.Glu166Asp		Somatic				FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	p.E166D	NM_032875.2	NP_116264.2	WXS	Illumina GAIIx	Phase_I	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		8	758	-			166					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.498G>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722293	0.30503	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.30182	4.45;1.54	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	N	0.11131	0.1	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.006	T	0.09509	-1.0671	10	0.13108	T	0.6	.	19.0851	0.93200	0.0:1.0:0.0:0.0	.	134;166	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	D	166;134	ENSP00000264658:E166D;ENSP00000377832:E134D	ENSP00000264658:E166D	E	-	3	2	FBXL20	34692631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.383000	0.59600	2.602000	0.87976	0.591000	0.81541	GAG		0.418	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		6	124	6	124	---	---	---	---	A	37439105	C	A	37439105	3	1	130	1	0	0	0	0	1	0	0	0	5717	680	24	1	844	1	FBXL20	17	37439105	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	67836	37439105	43756105	222	6126										
CNTNAP1	8506	broad.mit.edu	37	chr17	40843415	40843415	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccacaggagaactgacaagGgactgctgacctttgtggac	12	11	0	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.chr17:40843415G>T	ENST00000264638.4	+	15	2447	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	744	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)		AACTGACAAGGGACTGCTGAC	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.(2230-2232)Gga>Tga		contactin associated protein 1							93	78	83					17																	40843415		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843415G>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.2230G>T	17.37:g.40843415G>T	ENSP00000264638:p.Gly744*		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.G744*	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	15	2447	+		Breast(137;0.000143)	744			Fibrinogen C-terminal.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.2230G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	42	9.167306	0.99087	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	.	.	.	X	744	.	ENSP00000264638:G744X	G	+	1	0	CNTNAP1	38096941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.768000	0.95171	0.561000	0.74099	GGA		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	47	5	47	---	---	---	---	T	40843415	G	T	40843415	4	4	130	1	0	0	0	0	0	1	0	0	3646	1233	43	1	2288	1	CNTNAP1	17	40843415	Nonsense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3404310	40843415	40351795	223	6127										
HOXB1	3211	broad.mit.edu	37	chr17	46608050	46608050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagctggggaagggcacccCcagggtcgaaggcggctgct	19	11	0	0			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.chr17:46608050C>A	ENST00000239174.6	-	1	309	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	73					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)	p.G73W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGGGCACCCCCAGGGTCGAA	0.672																																						ENST00000239174.6																			1	Substitution - Missense(1)	p.G73W(1)	lung(1)	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.(217-219)Ggg>Tgg		homeobox B1							32	39	37					17																	46608050		2203	4299	6502	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608050C>A		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.217G>T	17.37:g.46608050C>A	ENSP00000355140:p.Gly73Trp		Somatic				HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	p.G73W	NM_002144.3	NP_002135.2	WXS	Illumina GAIIx	Phase_I	P14653	HXB1_HUMAN			1	309	-			73					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.217G>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572407	0.45798	.	.	ENSG00000120094	ENST00000239174	D	0.90324	-2.65	4.57	4.57	0.56435	.	0.000000	0.44483	D	0.000441	D	0.94182	0.8133	M	0.70595	2.14	0.49582	D	0.999803	D	0.76494	0.999	D	0.75020	0.985	D	0.94569	0.7769	10	0.87932	D	0	.	13.323	0.60444	0.1585:0.8414:0.0:0.0	.	73	P14653	HXB1_HUMAN	W	73	ENSP00000355140:G73W	ENSP00000355140:G73W	G	-	1	0	HOXB1	43963049	0.971000	0.33674	0.996000	0.52242	0.595000	0.36748	1.952000	0.40343	2.371000	0.80710	0.551000	0.68910	GGG		0.672	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			5	74	5	74	---	---	---	---	A	46608050	C	A	46608050	3	1	130	1	0	0	0	0	1	0	0	0	7299	623	22	1	696	1	HOXB1	17	46608050	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5764635	46608050	34587160	224	6128										
C17orf71	55181	broad.mit.edu	37	chr17	57290243	57290243	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaaaaagaacctcaaaccCaaggagagagcacgagcctg	10	10	1	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.chr17:57290243C>A	ENST00000543872.2	+	4	2323	c.2059C>A	c.(2059-2061)Caa>Aaa	p.Q687K	SMG8_ENST00000580498.1_3'UTR|SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	687					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.Q687K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCTCAAACCCAAGGAGAGAG	0.463																																						ENST00000543872.2																			1	Substitution - Missense(1)	p.Q687K(1)	lung(1)	NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2059-2061)Caa>Aaa		SMG8 nonsense mediated mRNA decay factor							130	138	135					17																	57290243		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290243C>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2059C>A	17.37:g.57290243C>A	ENSP00000438748:p.Gln687Lys		Somatic				SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron	p.Q687K			WXS	Illumina GAIIx	Phase_I	Q8ND04	SMG8_HUMAN			4	2323	+			687					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2059C>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557197	0.45590	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44083	0.93;0.93	5.82	5.82	0.92795	.	0.155915	0.64402	D	0.000020	T	0.39911	0.1096	L	0.48642	1.525	0.54753	D	0.999988	P	0.38280	0.625	B	0.38156	0.266	T	0.11084	-1.0602	10	0.14656	T	0.56	-16.14	19.0872	0.93209	0.0:1.0:0.0:0.0	.	687	Q8ND04	SMG8_HUMAN	K	687	ENSP00000300917:Q687K;ENSP00000438748:Q687K	ENSP00000300917:Q687K	Q	+	1	0	SMG8	54645025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.752000	0.94435	0.655000	0.94253	CAA		0.463	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		6	192	6	192	---	---	---	---	A	57290243	C	A	57290243	3	1	130	1	0	0	0	0	1	0	0	0	1878	595	21	1	2069	1	C17orf71	17	57290243	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	10682193	57290243	23904967	225	6129										
KCNH6	81033	broad.mit.edu	37	chr17	61611529	61611529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggacatcgtcatcaacttcCgcaccacctatgtcaacacc	5	16	3	0			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.chr17:61611529C>A	ENST00000583023.1	+	5	969	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	320					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)	p.R320C(1)		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)	CATCAACTTCCGCACCACCTA	0.582																																						ENST00000583023.1																			1	Substitution - Missense(1)	p.R320C(1)	skin(1)	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.(958-960)Cgc>Agc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						230	184	199					17																	61611529		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611529C>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.958C>A	17.37:g.61611529C>A	ENSP00000463533:p.Arg320Ser		Somatic				KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S	p.R320S	NM_030779.2	NP_110406.1	WXS	Illumina GAIIx	Phase_I	Q9H252	KCNH6_HUMAN			5	969	+			320					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.958C>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159566	0.21454	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98164	-4.76;-4.76	4.14	3.13	0.36017	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.94063	3.49	0.48975	D	0.99973	D;P;D;P;D	0.63046	0.972;0.777;0.987;0.861;0.992	D;P;D;P;D	0.76071	0.974;0.793;0.987;0.878;0.938	D	0.99509	1.0955	10	0.87932	D	0	.	12.8983	0.58111	0.164:0.836:0.0:0.0	.	197;320;320;320;320	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	S	320	ENSP00000318212:R320S;ENSP00000396900:R320S	ENSP00000318212:R320S	R	+	1	0	KCNH6	58965261	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.856000	0.39389	0.882000	0.36016	0.305000	0.20034	CGC		0.582	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		5	191	5	191	---	---	---	---	A	61611529	C	A	61611529	3	1	130	1	0	0	0	0	1	0	0	0	8036	652	23	1	976	1	KCNH6	17	61611529	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	4321286	61611529	19583681	226	6130										
POLG2	11232	broad.mit.edu	37	chr17	62492985	62492985	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctttggggctactcctttcCgtcaacagctccggctgccc	9	17	1	0			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.chr17:62492985C>A	ENST00000539111.2	-	1	169	c.102G>T	c.(100-102)acG>acT	p.T34T		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	34					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)			TACTCCTTTCCGTCAACAGCT	0.647																																					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.(100-102)acG>acT		polymerase (DNA directed), gamma 2, accessory subunit							70	72	71					17																	62492985		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.chr17:62492985C>A	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.102G>T	17.37:g.62492985C>A			Somatic					p.T34T	NM_007215.3	NP_009146.2	WXS	Illumina GAIIx	Phase_I	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	169	-	Breast(5;2.15e-14)		34					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.102G>T	CCDS32706.1																																																																																				0.647	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		5	107	5	107	---	---	---	---	A	62492985	C	A	62492985	2	1	130	1	0	0	0	0	0	0	0	1	12201	639	23	1		1	POLG2	17	62492985	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	881456	62492985	18702225	227	6131										
CACNG4	27092	broad.mit.edu	37	chr17	65021031	65021031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaccatcctgctcctgctGggtggcctgtgcatcggtgc	13	14	0	0			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.chr17:65021031G>T	ENST00000262138.3	+	3	362	c.360G>T	c.(358-360)ctG>ctT	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					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)			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)			TGCTCCTGCTGGGTGGCCTGT	0.652																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(358-360)ctG>ctT		calcium channel, voltage-dependent, gamma subunit 4							108	94	98					17																	65021031		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.chr17:65021031G>T	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.360G>T	17.37:g.65021031G>T			Somatic					p.L120L	NM_014405.3	NP_055220.1	WXS	Illumina GAIIx	Phase_I	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	362	+	all_cancers(12;9.86e-11)		120					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.360G>T	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		7	155	7	155	---	---	---	---	T	65021031	G	T	65021031	2	4	130	1	0	0	0	0	0	0	0	1	2559	1335	47	1		1	CACNG4	17	65021031	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2528046	65021031	16174179	228	6132										
HELZ	9931	broad.mit.edu	37	chr17	65134173	65134173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgccatcatctaacttccCccacgctactggccacttcc	4	19	2	0			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.chr17:65134173C>A	ENST00000358691.5	-	22	2993	c.2827G>T	c.(2827-2829)Ggg>Tgg	p.G943W	HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	943						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)					TCTAACTTCCCCCACGCTACT	0.388																																						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.(2827-2829)Ggg>Tgg		helicase with zinc finger							157	160	159					17																	65134173		2145	4239	6384	SO:0001583	missense	9931							g.chr17:65134173C>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.2827G>T	17.37:g.65134173C>A	ENSP00000351524:p.Gly943Trp		Somatic				HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	p.G943W	NM_014877.3	NP_055692	WXS	Illumina GAIIx	Phase_I					22	2993	-	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.2827G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683195	0.47991	.	.	ENSG00000198265	ENST00000358691	D	0.83992	-1.79	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95056	0.8191	10	0.72032	D	0.01	-12.6201	18.8583	0.92262	0.0:1.0:0.0:0.0	.	944;943	B7ZLW2;P42694	.;HELZ_HUMAN	W	943	ENSP00000351524:G943W	ENSP00000351524:G943W	G	-	1	0	HELZ	62564635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	GGG		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		6	111	6	111	---	---	---	---	A	65134173	C	A	65134173	3	1	130	1	0	0	0	0	1	0	0	0	7049	623	22	1	3049	1	HELZ	17	65134173	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	113142	65134173	16061037	229	6133										
GRB2	2885	broad.mit.edu	37	chr17	73316460	73316460	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttgactcttagacgttccGgttcacgggggtgacataat	11	9	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.chr17:73316460G>T	ENST00000392562.1	-	6	1425	c.643C>A	c.(643-645)Cgg>Agg	p.R215R	GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392564.1_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	215	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	TAGACGTTCCGGTTCACGGGG	0.453																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(643-645)Cgg>Agg		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)						147	159	155					17																	73316460		2203	4300	6503	SO:0001819	synonymous_variant	2885				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.chr17:73316460G>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.643C>A	17.37:g.73316460G>T			Somatic				GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000392564.1_Silent_p.R215R	p.R215R			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		6	1425	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		215			SH3 2.		P29354|Q14450|Q63057|Q63059	Silent	SNP	ENST00000392562.1	37	c.643C>A	CCDS11721.1																																																																																				0.453	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			6	356	6	356	---	---	---	---	T	73316460	G	T	73316460	2	4	130	1	0	0	0	0	0	0	0	1	6758	1115	39	1		1	GRB2	17	73316460	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	8182287	73316460	7878750	230	6134										
KIAA0195	9772	broad.mit.edu	37	chr17	73491708	73491708	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgctagtgccccttttcacCgactgcaccccagagagtga	9	15	1	2	rs377381836		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.chr17:73491708C>A	ENST00000314256.7	+	22	3322	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	976						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)			CCCTTTTCACCGACTGCACCC	0.637																																						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.(2926-2928)acC>acA		KIAA0195							117	113	114					17																	73491708		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.chr17:73491708C>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.2928C>A	17.37:g.73491708C>A			Somatic				KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	p.T976T	NM_014738.4	NP_055553.3	WXS	Illumina GAIIx	Phase_I	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)		22	3322	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		976					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2928C>A	CCDS32732.1																																																																																				0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		7	228	7	228	---	---	---	---	A	73491708	C	A	73491708	2	1	130	1	0	0	0	0	0	0	0	1	8160	639	23	1		1	KIAA0195	17	73491708	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	175248	73491708	7703502	231	6135										
UNK	85451	broad.mit.edu	37	chr17	73811288	73811288	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaacgacatgcagcagtcGggcagctgtccccgaggacc	13	14	0	0			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.chr17:73811288G>T	ENST00000589666.1	+	7	1025	c.915G>T	c.(913-915)tcG>tcT	p.S305S	UNK_ENST00000293218.3_Silent_p.S381S	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	305							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)			TGCAGCAGTCGGGCAGCTGTC	0.652																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1141-1143)tcG>tcT		unkempt family zinc finger							142	154	150					17																	73811288		2093	4212	6305	SO:0001819	synonymous_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73811288G>T	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.915G>T	17.37:g.73811288G>T			Somatic				UNK_ENST00000589666.1_Silent_p.S305S	p.S381S			WXS	Illumina GAIIx	Phase_I	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)		8	1143	+			305						Silent	SNP	ENST00000589666.1	37	c.1143G>T	CCDS45778.2																																																																																				0.652	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		6	179	6	179	---	---	---	---	T	73811288	G	T	73811288	2	4	130	1	0	0	0	0	0	0	0	1	16997	1103	39	1		1	UNK	17	73811288	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	319580	73811288	7383922	232	6136										
UBE2O	63893	broad.mit.edu	37	chr17	74392583	74392583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatggcctctttcaactccCggaagctcttgggtggcccg	12	13	3	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.chr17:74392583C>A	ENST00000319380.7	-	14	2499	c.2435G>T	c.(2434-2436)cGg>cTg	p.R812L	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	812					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						TTTCAACTCCCGGAAGCTCTT	0.647																																						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.(2434-2436)cGg>cTg		ubiquitin-conjugating enzyme E2O							120	128	126					17																	74392583		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392583C>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.2435G>T	17.37:g.74392583C>A	ENSP00000323687:p.Arg812Leu		Somatic					p.R812L	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			14	2499	-			812					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2435G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156615	0.78114	.	.	ENSG00000175931	ENST00000319380	T	0.78246	-1.16	4.79	4.79	0.61399	.	0.063963	0.64402	D	0.000017	T	0.64549	0.2608	N	0.24115	0.695	0.40836	D	0.983637	P	0.48998	0.918	B	0.41299	0.353	T	0.68827	-0.5306	10	0.46703	T	0.11	.	11.3641	0.49662	0.0:0.9161:0.0:0.0839	.	812	Q9C0C9	UBE2O_HUMAN	L	812	ENSP00000323687:R812L	ENSP00000323687:R812L	R	-	2	0	UBE2O	71904178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.751000	0.62169	2.206000	0.71126	0.462000	0.41574	CGG		0.647	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		9	312	9	312	---	---	---	---	A	74392583	C	A	74392583	3	1	130	1	0	0	0	0	1	0	0	0	16865	652	23	1	1463	1	UBE2O	17	74392583	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	581295	74392583	6802627	233	6137										
UBE2O	63893	broad.mit.edu	37	chr17	74392836	74392836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccattcatccgaggatgcccCgctggtgctgccttctaccg	10	16	2	0			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.chr17:74392836C>A	ENST00000319380.7	-	14	2246	c.2182G>T	c.(2182-2184)Ggg>Tgg	p.G728W	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	728					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						GAGGATGCCCCGCTGGTGCTG	0.567																																						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.(2182-2184)Ggg>Tgg		ubiquitin-conjugating enzyme E2O							126	111	116					17																	74392836		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392836C>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.2182G>T	17.37:g.74392836C>A	ENSP00000323687:p.Gly728Trp		Somatic					p.G728W	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			14	2246	-			728					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2182G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496923	0.85069	.	.	ENSG00000175931	ENST00000319380	T	0.74106	-0.81	4.94	4.94	0.65067	.	0.066989	0.64402	D	0.000012	D	0.83211	0.5205	L	0.50333	1.59	0.52501	D	0.999955	D	0.89917	1.0	D	0.74674	0.984	D	0.85125	0.0971	10	0.72032	D	0.01	-32.996	18.1709	0.89745	0.0:1.0:0.0:0.0	.	728	Q9C0C9	UBE2O_HUMAN	W	728	ENSP00000323687:G728W	ENSP00000323687:G728W	G	-	1	0	UBE2O	71904431	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.456000	0.80751	2.283000	0.76528	0.462000	0.41574	GGG		0.567	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		5	152	5	152	---	---	---	---	A	74392836	C	A	74392836	3	1	130	1	0	0	0	0	1	0	0	0	16865	652	23	1	1716	1	UBE2O	17	74392836	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	253	74392836	6802374	234	6138										
TBC1D16	125058	broad.mit.edu	37	chr17	77923570	77923570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcagccgcagcgcctccCgctcctccgacgtggactcg	11	19	1	0			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.chr17:77923570C>A	ENST00000310924.2	-	7	1467	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	451	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGCGCCTCCCGCTCCTCCGA	0.642																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1351-1353)cGg>cTg		TBC1 domain family, member 16							56	68	64					17																	77923570		2203	4299	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77923570C>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1352G>T	17.37:g.77923570C>A	ENSP00000309794:p.Arg451Leu		Somatic				TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L	p.R451L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	WXS	Illumina GAIIx	Phase_I	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		7	1467	-	all_neural(118;0.167)		451			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1352G>T	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193119	0.94960	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04502	3.61;3.61	4.8	4.8	0.61643	Rab-GAP/TBC domain (4);	0.119371	0.52532	D	0.000068	T	0.28134	0.0694	M	0.88979	2.995	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;0.994;0.994;0.992	T	0.21793	-1.0235	10	0.87932	D	0	-36.5486	17.8549	0.88760	0.0:1.0:0.0:0.0	.	111;451;451;89	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	L	89;451	ENSP00000341517:R89L;ENSP00000309794:R451L	ENSP00000309794:R451L	R	-	2	0	TBC1D16	75538165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.929000	0.70096	2.196000	0.70406	0.591000	0.81541	CGG		0.642	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		5	178	5	178	---	---	---	---	A	77923570	C	A	77923570	3	1	130	1	0	0	0	0	1	0	0	0	15602	652	23	1	975	1	TBC1D16	17	77923570	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3530734	77923570	3271640	235	6139										
YES1	7525	broad.mit.edu	37	chr18	748004	748004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagcgattgatcttgcttccCaccaatctccttccctgcaa	5	15	2	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.chr18:748004C>A	ENST00000584307.1	-	4	556	c.386G>T	c.(385-387)tGg>tTg	p.W129L	YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	129	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TCTTGCTTCCCACCAATCTCC	0.433																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(385-387)tGg>tTg		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						178	158	165					18																	748004		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:748004C>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.386G>T	18.37:g.748004C>A	ENSP00000462468:p.Trp129Leu		Somatic				YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L	p.W129L			WXS	Illumina GAIIx	Phase_I	P07947	YES_HUMAN			4	556	-			129			SH3.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.386G>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494954	0.85069	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.59502	0.26	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.83774	2.66	0.80722	D	1	P	0.49961	0.93	P	0.47891	0.56	T	0.76096	-0.3084	10	0.87932	D	0	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	129	P07947	YES_HUMAN	L	129	ENSP00000324740:W129L	ENSP00000324740:W129L	W	-	2	0	YES1	738004	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.675000	0.84002	2.821000	0.97095	0.484000	0.47621	TGG		0.433	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		7	198	7	198	---	---	---	---	A	748004	C	A	748004	3	1	130	1	0	0	0	0	1	0	0	0	17471	595	21	1	1281	1	YES1	18	748004	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		748004	77329244	236	6140										
MYOM1	8736	broad.mit.edu	37	chr18	3129369	3129369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaggttttgagagctactGggtagtgaaggtttgttagg	15	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.chr18:3129369G>T	ENST00000356443.4	-	18	2988	c.2655C>A	c.(2653-2655)ccC>ccA	p.P885P	MYOM1_ENST00000400569.3_Silent_p.P885P|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	885					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						GAGAGCTACTGGGTAGTGAAG	0.542											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2653-2655)ccC>ccA		myomesin 1							188	189	188					18																	3129369		1906	4118	6024	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129369G>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.2655C>A	18.37:g.3129369G>T			Somatic	OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Silent_p.P885P	p.P885P			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			18	2988	-			885					Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2655C>A	CCDS45824.1																																																																																				0.542	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	252	8	252	---	---	---	---	T	3129369	G	T	3129369	2	4	130	1	0	0	0	0	0	0	0	1	10091	1335	47	1		1	MYOM1	18	3129369	Silent	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2381365	3129369	74947879	237	6141										
MYO5B	4645	broad.mit.edu	37	chr18	47516881	47516881	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagatgtggtaattcctctCatcatctgcctggaggagga	11	8	3	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.chr18:47516881C>A	ENST00000285039.7	-	7	1065	c.766G>T	c.(766-768)Gag>Tag	p.E256*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	256	Myosin motor.				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)		TAATTCCTCTCATCATCTGCC	0.502																																						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.(766-768)Gag>Tag		myosin VB							75	74	74					18																	47516881		1979	4157	6136	SO:0001587	stop_gained	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47516881C>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.766G>T	18.37:g.47516881C>A	ENSP00000285039:p.Glu256*		Somatic					p.E256*	NM_001080467.2	NP_001073936.1	WXS	Illumina GAIIx	Phase_I	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	7	1065	-			256			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Nonsense_Mutation	SNP	ENST00000285039.7	37	c.766G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419017	0.97550	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5491	0.87871	0.0:1.0:0.0:0.0	.	.	.	.	X	256;255	.	ENSP00000285039:E256X	E	-	1	0	MYO5B	45770879	1.000000	0.71417	0.922000	0.36590	0.128000	0.20619	7.662000	0.83803	2.308000	0.77769	0.563000	0.77884	GAG		0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	51	4	51	---	---	---	---	A	47516881	C	A	47516881	4	1	130	1	0	0	0	0	0	1	0	0	10079	835	29	3	4916	3	MYO5B	18	47516881	Nonsense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	44387512	47516881	30560367	238	6142										
ALPK2	115701	broad.mit.edu	37	chr18	56184193	56184193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcatcattatttctggtccCataggcaatggcattgtgca	8	10	3	0			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.chr18:56184193C>A	ENST00000361673.3	-	9	6100	c.5887G>T	c.(5887-5889)Ggg>Tgg	p.G1963W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					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						TTTCTGGTCCCATAGGCAATG	0.537																																						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.(5887-5889)Ggg>Tgg		alpha-kinase 2							192	170	178					18																	56184193		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184193C>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.5887G>T	18.37:g.56184193C>A	ENSP00000354991:p.Gly1963Trp		Somatic					p.G1963W	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			9	6100	-			1963			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5887G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800319	0.70567	.	.	ENSG00000198796	ENST00000361673	T	0.07908	3.15	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	M	0.69823	2.125	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.00686	-1.1610	10	0.87932	D	0	-24.3434	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1963	Q86TB3	ALPK2_HUMAN	W	1963	ENSP00000354991:G1963W	ENSP00000354991:G1963W	G	-	1	0	ALPK2	54335173	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.550000	0.60733	2.716000	0.92895	0.655000	0.94253	GGG		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	188	6	188	---	---	---	---	A	56184193	C	A	56184193	3	1	130	1	0	0	0	0	1	0	0	0	545	594	21	1	645	1	ALPK2	18	56184193	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8667312	56184193	21893055	239	6143										
RTTN	25914	broad.mit.edu	37	chr18	67836099	67836099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagctttttacctctttccCaatatcagacaggaagttac	5	10	2	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.chr18:67836099C>A	ENST00000255674.6	-	12	1967	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561					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)				ACCTCTTTCCCAATATCAGAC	0.294																																						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.(1681-1683)Ggg>Tgg		rotatin							79	80	79					18																	67836099		1791	4063	5854	SO:0001583	missense	25914						binding	g.chr18:67836099C>A	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.1681G>T	18.37:g.67836099C>A	ENSP00000255674:p.Gly561Trp		Somatic				RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	p.G561W	NM_173630.3	NP_775901.3	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			12	1967	-		Esophageal squamous(42;0.129)	561					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1681G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813787	0.32053	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66280	3.48;-0.2;-0.2	5.67	4.79	0.61399	Armadillo-type fold (1);	0.598700	0.18223	N	0.147815	T	0.63236	0.2494	L	0.44542	1.39	0.09310	N	1	D;P	0.60575	0.988;0.914	P;P	0.53035	0.614;0.716	T	0.56842	-0.7912	10	0.62326	D	0.03	.	9.368	0.38237	0.0:0.5697:0.3536:0.0768	.	561;561	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	W	561	ENSP00000255674:G561W;ENSP00000402352:G561W;ENSP00000399520:G561W	ENSP00000255674:G561W	G	-	1	0	RTTN	65987079	0.010000	0.17322	0.257000	0.24404	0.320000	0.28249	2.020000	0.41010	1.380000	0.46344	0.591000	0.81541	GGG		0.294	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	117	6	117	---	---	---	---	A	67836099	C	A	67836099	3	1	130	1	0	0	0	0	1	0	0	0	13737	594	21	1	5151	1	RTTN	18	67836099	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	11651906	67836099	10241149	240	6144										
DOT1L	84444	broad.mit.edu	37	chr19	2210676	2210676	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgtgaagaagccgtctccCtccaaagcccgcaagaagaa	9	14	1	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.chr19:2210676C>A	ENST00000398665.3	+	14	1209	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	391	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)			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)		AGCCGTCTCCCTCCAAAGCCC	0.612																																						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.(1171-1173)ccC>ccA		DOT1-like histone H3K79 methyltransferase							86	98	94					19																	2210676		1957	4137	6094	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210676C>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.1173C>A	19.37:g.2210676C>A			Somatic					p.P391P	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	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	1209	+		Hepatocellular(1079;0.137)	391			Required for interaction with nucleosomes and DNA.		O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1173C>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	7.593	0.671227	0.14776	.	.	ENSG00000104885	ENST00000440640	T	0.52295	0.67	4.94	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52457	-0.8573	7	0.87932	D	0	-33.7556	5.4973	0.16809	0.144:0.627:0.1406:0.0884	.	.	.	.	H	178	ENSP00000388276:P178H	ENSP00000388276:P178H	P	+	2	0	DOT1L	2161676	0.996000	0.38824	1.000000	0.80357	0.511000	0.34104	0.135000	0.15952	1.058000	0.40530	0.561000	0.74099	CCT		0.612	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	156	8	156	---	---	---	---	A	2210676	C	A	2210676	2	1	130	1	0	0	0	0	0	0	0	1	4709	668	24	1		1	DOT1L	19	2210676	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		2210676	56918307	241	6145										
PIAS4	51588	broad.mit.edu	37	chr19	4013131	4013131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgccccacagccgcaccggCccctggaccccctgaccatg	9	22	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.chr19:4013131C>A	ENST00000262971.2	+	2	353	c.238C>A	c.(238-240)Ccc>Acc	p.P80T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	80					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)		GCCGCACCGGCCCCTGGACCC	0.637																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(238-240)Ccc>Acc		protein inhibitor of activated STAT, 4							43	49	47					19																	4013131		2203	4299	6502	SO:0001583	missense	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.chr19:4013131C>A	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.238C>A	19.37:g.4013131C>A	ENSP00000262971:p.Pro80Thr		Somatic					p.P80T	NM_015897.2	NP_056981.2	WXS	Illumina GAIIx	Phase_I	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)	2	353	+			80					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.238C>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904581	0.17760	.	.	ENSG00000105229	ENST00000262971	T	0.32753	1.44	5.14	4.07	0.47477	.	0.344081	0.24681	N	0.036466	T	0.15219	0.0367	N	0.08118	0	0.28342	N	0.921285	B	0.11235	0.004	B	0.12156	0.007	T	0.15178	-1.0446	10	0.25106	T	0.35	-27.907	9.7974	0.40744	0.0:0.7786:0.142:0.0794	.	80	Q8N2W9	PIAS4_HUMAN	T	80	ENSP00000262971:P80T	ENSP00000262971:P80T	P	+	1	0	PIAS4	3964131	0.828000	0.29307	0.992000	0.48379	0.511000	0.34104	0.261000	0.18442	1.094000	0.41399	0.561000	0.74099	CCC		0.637	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		4	85	4	85	---	---	---	---	A	4013131	C	A	4013131	3	1	130	1	0	0	0	0	1	0	0	0	11878	739	26	3	244	3	PIAS4	19	4013131	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1802455	4013131	55115852	242	6146										
MPND	84954	broad.mit.edu	37	chr19	4355118	4355118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacggtgctcagagccttccCttgtcggagccggctcgggg	16	13	1	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.chr19:4355118C>A	ENST00000262966.8	+	8	1011	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MPND_ENST00000359935.4_Intron|AC007292.3_ENST00000593524.1_RNA|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.P315H	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	315	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCTTCCCTTGTCGGAGC	0.677																																						ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(943-945)cCt>cAt		MPN domain containing							31	40	37					19																	4355118		2068	4209	6277	SO:0001583	missense	84954						peptidase activity	g.chr19:4355118C>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.944C>A	19.37:g.4355118C>A	ENSP00000262966:p.Pro315His		Somatic				MPND_ENST00000262966.8_Missense_Mutation_p.P315H|MPND_ENST00000359935.4_Intron	p.P315H			WXS	Illumina GAIIx	Phase_I	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	8	979	+			315			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.944C>A	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	c	18.98	3.738167	0.69304	.	.	ENSG00000008382	ENST00000262966	T	0.66638	-0.22	4.56	4.56	0.56223	.	0.116288	0.64402	D	0.000015	D	0.86986	0.6065	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.91236	0.5018	10	0.87932	D	0	-10.3038	15.2334	0.73411	0.0:1.0:0.0:0.0	.	315;315	A6NI36;Q8N594	.;MPND_HUMAN	H	315	ENSP00000262966:P315H	ENSP00000262966:P315H	P	+	2	0	MPND	4306118	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.665000	0.74442	2.272000	0.75746	0.549000	0.68633	CCT		0.677	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		5	44	5	44	---	---	---	---	A	4355118	C	A	4355118	3	1	130	1	0	0	0	0	1	0	0	0	9731	681	24	1	974	1	MPND	19	4355118	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	341987	4355118	54773865	243	6147										
INSR	3643	broad.mit.edu	37	chr19	7267518	7267518	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attatcctccacggaatccaGgatacgggaccagtcgatag	10	11	0	0			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.chr19:7267518G>T	ENST00000302850.5	-	2	632	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	INSR_ENST00000341500.5_Missense_Mutation_p.L164M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	164	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACGGAATCCAGGATACGGGAC	0.527																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(490-492)Ctg>Atg		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						150	124	133					19																	7267518		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267518G>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.490C>A	19.37:g.7267518G>T	ENSP00000303830:p.Leu164Met		Somatic				INSR_ENST00000302850.5_Missense_Mutation_p.L164M	p.L164M	NM_001079817.1	NP_001073285.1	WXS	Illumina GAIIx	Phase_I	P06213	INSR_HUMAN			2	529	-			164					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.490C>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162066	0.57368	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83755	-1.76;-1.76	5.1	2.97	0.34412	.	0.000000	0.35040	U	0.003482	D	0.83580	0.5285	L	0.43646	1.37	0.80722	D	1	B;B;B	0.29301	0.013;0.241;0.15	B;P;P	0.49528	0.419;0.614;0.529	T	0.79822	-0.1641	10	0.34782	T	0.22	.	9.589	0.39534	0.1547:0.0:0.8453:0.0	.	155;164;164	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	M	164	ENSP00000303830:L164M;ENSP00000342838:L164M	ENSP00000303830:L164M	L	-	1	2	INSR	7218518	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.773000	0.38563	2.363000	0.80096	0.563000	0.77884	CTG		0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			5	74	5	74	---	---	---	---	T	7267518	G	T	7267518	3	4	130	1	0	0	0	0	1	0	0	0	7773	991	35	1	3742	1	INSR	19	7267518	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2912400	7267518	51861465	244	6148										
CYP4F11	57834	broad.mit.edu	37	chr19	16040400	16040400	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgtcttcatgccctcttcCgtgggagtgacctgaaaaca	9	11	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_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000591841.1_5'Flank|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																																						ENST00000402119.4																			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			Somatic				CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	p.T70T	NM_021187.3	NP_067010.3	WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			2	636	-									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	8	128	---	---	---	---	A	16040400	C	A	16040400	2	1	130	1	0	0	0	0	0	0	0	1	4186	639	23	1		1	CYP4F11	19	16040400	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8772882	16040400	43088583	245	6149										
UPF1	5976	broad.mit.edu	37	chr19	18974273	18974273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcatcattgtgggcaaccCgaaggcactatcaaagcagc	10	12	3	0			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.chr19:18974273C>A	ENST00000599848.1	+	19	2869	c.2660C>A	c.(2659-2661)cCg>cAg	p.P887Q	UPF1_ENST00000262803.5_Missense_Mutation_p.P876Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					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)	p.P876Q(1)		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						GTGGGCAACCCGAAGGCACTA	0.597																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.P876Q(1)	lung(1)	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.(2626-2628)cCg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							176	175	176					19																	18974273		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.chr19:18974273C>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.2660C>A	19.37:g.18974273C>A	ENSP00000470142:p.Pro887Gln		Somatic				UPF1_ENST00000599848.1_Missense_Mutation_p.P887Q	p.P876Q	NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			19	2899	+			887					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2627C>A		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729782	0.69074	.	.	ENSG00000005007	ENST00000262803	D	0.92199	-2.99	4.46	4.46	0.54185	.	0.108822	0.64402	D	0.000005	D	0.95541	0.8551	M	0.80183	2.485	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.66847	0.915;0.947	D	0.96131	0.9092	10	0.87932	D	0	-22.6611	14.2655	0.66116	0.0:1.0:0.0:0.0	.	887;876	Q92900;Q92900-2	RENT1_HUMAN;.	Q	876	ENSP00000262803:P876Q	ENSP00000262803:P876Q	P	+	2	0	UPF1	18835273	1.000000	0.71417	0.952000	0.39060	0.365000	0.29674	7.452000	0.80683	2.023000	0.59567	0.555000	0.69702	CCG		0.597	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	309	6	309	---	---	---	---	A	18974273	C	A	18974273	3	1	130	1	0	0	0	0	1	0	0	0	17000	652	23	1	2701	1	UPF1	19	18974273	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2933873	18974273	40154710	246	6150										
UPF1	5976	broad.mit.edu	37	chr19	18976570	18976570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagccagcccggcctctccCagccggagctgtcccaggtg	13	17	1	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.chr19:18976570C>A	ENST00000599848.1	+	22	3462	c.3253C>A	c.(3253-3255)Cag>Aag	p.Q1085K	UPF1_ENST00000262803.5_Missense_Mutation_p.Q1074K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1085	Gln/Ser-rich.				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						CGGCCTCTCCCAGCCGGAGCT	0.647																																						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.(3220-3222)Cag>Aag		UPF1 regulator of nonsense transcripts homolog (yeast)							40	46	44					19																	18976570		2200	4293	6493	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.chr19:18976570C>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.3253C>A	19.37:g.18976570C>A	ENSP00000470142:p.Gln1085Lys		Somatic				UPF1_ENST00000599848.1_Missense_Mutation_p.Q1085K	p.Q1074K	NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			22	3492	+			1085			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3220C>A		.	.	.	.	.	.	.	.	.	.	c	20.3	3.967264	0.74131	.	.	ENSG00000005007	ENST00000262803	D	0.89875	-2.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	L	0.34521	1.04	0.80722	D	1	B;B	0.21905	0.062;0.043	B;B	0.26770	0.036;0.073	T	0.82824	-0.0266	10	0.62326	D	0.03	-32.4063	16.7116	0.85387	0.0:1.0:0.0:0.0	.	1085;1074	Q92900;Q92900-2	RENT1_HUMAN;.	K	1074	ENSP00000262803:Q1074K	ENSP00000262803:Q1074K	Q	+	1	0	UPF1	18837570	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.470000	0.80973	2.285000	0.76669	0.479000	0.44913	CAG		0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	93	5	93	---	---	---	---	A	18976570	C	A	18976570	3	1	130	1	0	0	0	0	1	0	0	0	17000	595	21	1	3306	1	UPF1	19	18976570	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2297	18976570	40152413	247	6151										
ARHGAP33	115703	broad.mit.edu	37	chr19	36278578	36278578	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcttcttctccccagccccCagggagtgcctgccaccctt	9	19	2	0			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.chr19:36278578C>A	ENST00000007510.4	+	21	3255	c.3111C>A	c.(3109-3111)ccC>ccA	p.P1037P	ARHGAP33_ENST00000378944.5_Silent_p.P873P|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Silent_p.P876P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1037					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						CCCCAGCCCCCAGGGAGTGCC	0.697																																						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.(3109-3111)ccC>ccA		Rho GTPase activating protein 33							24	30	28					19																	36278578		2188	4262	6450	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278578C>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.3111C>A	19.37:g.36278578C>A			Somatic				ARHGAP33_ENST00000378944.5_Silent_p.P873P|ARHGAP33_ENST00000314737.5_Silent_p.P876P	p.P1037P			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			21	3255	+			1037					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3111C>A																																																																																					0.697	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		6	64	6	64	---	---	---	---	A	36278578	C	A	36278578	2	1	130	1	0	0	0	0	0	0	0	1	882	581	21	1		1	ARHGAP33	19	36278578	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	17302008	36278578	22850405	248	6152										
LRFN3	79414	broad.mit.edu	37	chr19	36430931	36430931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcccgccggcgctttttccCgcctgcacaagctggcccgg	12	18	0	0			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.chr19:36430931C>A	ENST00000588831.1	+	3	1658	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	202					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)			CGCTTTTTCCCGCCTGCACAA	0.697																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(604-606)Cgc>Agc		leucine rich repeat and fibronectin type III domain containing 3							72	89	83					19																	36430931		2195	4278	6473	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430931C>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.604C>A	19.37:g.36430931C>A	ENSP00000466989:p.Arg202Ser		Somatic				LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S	p.R202S			WXS	Illumina GAIIx	Phase_I	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1658	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		202					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.604C>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573211	0.28092	.	.	ENSG00000126243	ENST00000246529	T	0.55760	0.5	4.49	2.22	0.28083	.	0.000000	0.33670	N	0.004676	T	0.31136	0.0787	N	0.05554	-0.025	0.28546	N	0.911874	B	0.22414	0.069	B	0.34038	0.174	T	0.19451	-1.0305	10	0.46703	T	0.11	.	6.3516	0.21379	0.3269:0.5037:0.1694:0.0	.	202	Q9BTN0	LRFN3_HUMAN	S	202	ENSP00000246529:R202S	ENSP00000246529:R202S	R	+	1	0	LRFN3	41122771	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.923000	0.04000	2.192000	0.70111	0.557000	0.71058	CGC		0.697	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		6	208	6	208	---	---	---	---	A	36430931	C	A	36430931	3	1	130	1	0	0	0	0	1	0	0	0	8939	652	23	1	606	1	LRFN3	19	36430931	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	152353	36430931	22698052	249	6153										
TBCB	1155	broad.mit.edu	37	chr19	36616652	36616652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtgacggtgggggacttcCcggaggaggactacgggttg	19	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.chr19:36616652C>A	ENST00000221855.3	+	6	1278	c.703C>A	c.(703-705)Ccg>Acg	p.P235T	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGACTTCCCGGAGGAGGA	0.572																																						ENST00000221855.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(703-705)Ccg>Acg		tubulin folding cofactor B							187	181	183					19																	36616652		2203	4300	6503	SO:0001583	missense	1155				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	g.chr19:36616652C>A	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.703C>A	19.37:g.36616652C>A	ENSP00000221855:p.Pro235Thr		Somatic				TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	p.P235T	NM_001281.2	NP_001272.2	WXS	Illumina GAIIx	Phase_I	Q99426	TBCB_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1278	+	Esophageal squamous(110;0.162)		235					O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	c.703C>A	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650005	0.87958	.	.	ENSG00000105254	ENST00000221855	D	0.95205	-3.64	4.82	4.82	0.62117	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98206	1.0470	10	0.87932	D	0	-18.6144	15.4413	0.75184	0.0:1.0:0.0:0.0	.	184;235	Q6FGY5;Q99426	.;TBCB_HUMAN	T	235	ENSP00000221855:P235T	ENSP00000221855:P235T	P	+	1	0	TBCB	41308492	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	6.960000	0.76036	2.494000	0.84150	0.561000	0.74099	CCG		0.572	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		7	227	7	227	---	---	---	---	A	36616652	C	A	36616652	3	1	130	1	0	0	0	0	1	0	0	0	15627	623	22	1	725	1	TBCB	19	36616652	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	185721	36616652	22512331	250	6154										
PLEKHG2	64857	broad.mit.edu	37	chr19	39907506	39907506	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagctccctggccctgctcCgggagctgtcgttgtctccg	12	17	1	0	rs201201843		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.chr19:39907506C>A	ENST00000409794.3	+	7	1460	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000425673.1_Silent_p.R204R	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	204	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 small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCTGCTCCGGGAGCTGTC	0.667																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(610-612)Cgg>Agg		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							53	64	60					19																	39907506		2182	4250	6432	SO:0001819	synonymous_variant	64857				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.chr19:39907506C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.610C>A	19.37:g.39907506C>A			Somatic				PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409794.3_Silent_p.R204R	p.R204R			WXS	Illumina GAIIx	Phase_I	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	935	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		204			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.610C>A	CCDS33022.2																																																																																				0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		5	172	5	172	---	---	---	---	A	39907506	C	A	39907506	2	1	130	1	0	0	0	0	0	0	0	1	12069	643	23	1		1	PLEKHG2	19	39907506	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	3290854	39907506	19221477	251	6155										
FBL	2091	broad.mit.edu	37	chr19	40331076	40331076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatgccgatgcggctccacCatcacattcttccccgactg	7	17	3	0			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.chr19:40331076C>A	ENST00000221801.3	-	3	374	c.261G>T	c.(259-261)atG>atT	p.M87I	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	87					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)		GCGGCTCCACCATCACATTCT	0.612																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(259-261)atG>atT		fibrillarin							292	252	266					19																	40331076		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331076C>A	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.261G>T	19.37:g.40331076C>A	ENSP00000221801:p.Met87Ile		Somatic					p.M87I	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	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	374	-	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)	87					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.261G>T	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629133	0.14257	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.99	3.92	0.45320	.	0.489457	0.23710	N	0.045331	T	0.23289	0.0563	N	0.19112	0.55	0.34077	D	0.659136	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.27640	-1.0068	9	0.02654	T	1	-18.1057	5.0161	0.14337	0.2606:0.6299:0.0:0.1095	.	87;26;87	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	I	87	.	ENSP00000221801:M87I	M	-	3	0	FBL	45022916	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	-0.055000	0.11807	2.298000	0.77334	0.511000	0.50034	ATG		0.612	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		7	264	7	264	---	---	---	---	A	40331076	C	A	40331076	3	1	130	1	0	0	0	0	1	0	0	0	5696	594	21	1	732	1	FBL	19	40331076	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	423570	40331076	18797907	252	6156										
ITPKC	80271	broad.mit.edu	37	chr19	41231253	41231253	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctccctacagagcaaaccCtggaagaagctgaagacagt	10	11	0	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.chr19:41231253C>A	ENST00000263370.2	+	2	1197	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	388					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCAAACCCTGGAAGAAGC	0.567																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1162-1164)ccC>ccA		inositol-trisphosphate 3-kinase C							150	149	149					19																	41231253		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41231253C>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1164C>A	19.37:g.41231253C>A			Somatic					p.P388P	NM_025194.2	NP_079470.1	WXS	Illumina GAIIx	Phase_I	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	1197	+			388					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.1164C>A	CCDS12563.1																																																																																				0.567	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		7	187	7	187	---	---	---	---	A	41231253	C	A	41231253	2	1	130	1	0	0	0	0	0	0	0	1	7919	668	24	1		1	ITPKC	19	41231253	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	900177	41231253	17897730	253	6157										
IRGQ	126298	broad.mit.edu	37	chr19	44097036	44097036	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgccttctcccagacactcCggatcctcgccctcgccgtc	7	20	1	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.chr19:44097036C>A	ENST00000602269.1	-	2	1199	c.1014G>T	c.(1012-1014)ccG>ccT	p.P338P	L34079.2_ENST00000594374.1_Silent_p.P51P|IRGQ_ENST00000422989.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGACACTCCGGATCCTCGC	0.612																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1012-1014)ccG>ccT		immunity-related GTPase family, Q							183	177	179					19																	44097036		2203	4300	6503	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44097036C>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.1014G>T	19.37:g.44097036C>A			Somatic				IRGQ_ENST00000602269.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.P51P	p.P338P	NM_001007561.2	NP_001007562.1	WXS	Illumina GAIIx	Phase_I	Q8WZA9	IRGQ_HUMAN			3	1169	-		Prostate(69;0.0199)	338					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1014G>T	CCDS33040.1																																																																																				0.612	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		6	204	6	204	---	---	---	---	A	44097036	C	A	44097036	2	1	130	1	0	0	0	0	0	0	0	1	7839	639	23	1		1	IRGQ	19	44097036	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2865783	44097036	15031947	254	6158										
RSPH6A	81492	broad.mit.edu	37	chr19	46318255	46318255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgttgggacaggctgccCctctgtgaccaaccaggggc	13	14	1	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.chr19:46318255C>A	ENST00000221538.3	-	1	322	c.180G>T	c.(178-180)agG>agT	p.R60S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	60						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						ACAGGCTGCCCCTCTGTGACC	0.647																																						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.(178-180)agG>agT		radial spoke head 6 homolog A (Chlamydomonas)							52	49	50					19																	46318255		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46318255C>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.180G>T	19.37:g.46318255C>A	ENSP00000221538:p.Arg60Ser		Somatic				RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S	p.R60S	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			1	322	-			60					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.180G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704808	0.30232	.	.	ENSG00000104941	ENST00000221538	T	0.13657	2.57	3.99	0.311	0.15831	.	4.111420	0.00760	N	0.001124	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B	0.22003	0.063	B	0.12156	0.007	T	0.25433	-1.0132	10	0.08179	T	0.78	-0.365	5.8749	0.18824	0.0:0.5065:0.3775:0.116	.	60	Q9H0K4	RSH6A_HUMAN	S	60	ENSP00000221538:R60S	ENSP00000221538:R60S	R	-	3	2	RSPH6A	51010095	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.001000	0.12947	0.035000	0.15519	0.549000	0.68633	AGG		0.647	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			6	70	6	70	---	---	---	---	A	46318255	C	A	46318255	3	1	130	1	0	0	0	0	1	0	0	0	13707	622	22	1	1997	1	RSPH6A	19	46318255	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	2221219	46318255	12810728	255	6159										
MBOAT7	79143	broad.mit.edu	37	chr19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaatgagggcccaggtccCgaggatggtgaccagagaat	15	9	0	4	rs534373157		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.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					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)			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)					GCCCAGGTCCCGAGGATGGTG	0.622																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(175-177)Ggg>Tgg		membrane bound O-acyltransferase domain containing 7							56	64	61					19																	54692102		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692102C>A	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.175G>T	19.37:g.54692102C>A	ENSP00000245615:p.Gly59Trp		Somatic				MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	p.G59W	NM_024298.3	NP_077274.3	WXS	Illumina GAIIx	Phase_I	Q96N66	MBOA7_HUMAN			3	655	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		59					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.175G>T	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065903|4.065903	0.76187|0.76187	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.47869|0.18502	2.14;1.4;0.83|2.21;2.21	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.229124|.	0.34386|.	N|.	0.004008|.	T|T	0.13157|0.13157	0.0319|0.0319	.|.	.|.	.|.	0.37372|0.37372	D|D	0.91166|0.91166	D;D|B	0.89917|0.14438	1.0;1.0|0.01	D;D|B	0.91635|0.17098	0.989;0.999|0.017	T|T	0.11991|0.11991	-1.0565|-1.0565	9|8	0.66056|0.19147	D|T	0.02|0.46	-17.8323|-17.8323	15.4077|15.4077	0.74893|0.74893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;59|28	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	W|L	59;11;59;59;59|28	ENSP00000245615:G59W;ENSP00000375634:G59W;ENSP00000388250:G59W|ENSP00000410503:R28L;ENSP00000344377:R28L	ENSP00000245615:G59W|ENSP00000344377:R28L	G|R	-|-	1|2	0|0	MBOAT7|MBOAT7	59383914|59383914	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.817000|0.817000	0.46193|0.46193	6.714000|6.714000	0.74692|0.74692	2.008000|2.008000	0.58898|0.58898	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		4	86	4	86	---	---	---	---	A	54692102	C	A	54692102	3	1	130	1	0	0	0	0	1	0	0	0	9358	652	23	1	1271	1	MBOAT7	19	54692102	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	8373847	54692102	4436881	256	6160										
SEC23B	10483	broad.mit.edu	37	chr20	18522950	18522950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcctacagcacaacacccCgatcccccaaggaggcagag	8	17	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.chr20:18522950C>A	ENST00000336714.3	+	13	1847	c.1415C>A	c.(1414-1416)cCg>cAg	p.P472Q	SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q	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)	472					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						CACAACACCCCGATCCCCCAA	0.532																																						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.(1414-1416)cCg>cAg		Sec23 homolog B (S. cerevisiae)							242	212	222					20																	18522950		2203	4300	6503	SO:0001583	missense	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.chr20:18522950C>A	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.1415C>A	20.37:g.18522950C>A	ENSP00000338844:p.Pro472Gln		Somatic				SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q	p.P472Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	WXS	Illumina GAIIx	Phase_I	Q15437	SC23B_HUMAN			13	1847	+			472					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1415C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709472	0.68730	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.93	4.93	0.64822	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.70842	2.15	0.80722	D	1	D;P	0.76494	0.999;0.673	D;P	0.75020	0.985;0.462	D	0.85752	0.1344	10	0.52906	T	0.07	-19.2325	17.3272	0.87252	0.0:1.0:0.0:0.0	.	454;472	B4DJW8;Q15437	.;SC23B_HUMAN	Q	472	ENSP00000338844:P472Q;ENSP00000262544:P472Q;ENSP00000366695:P472Q;ENSP00000366685:P472Q	ENSP00000262544:P472Q	P	+	2	0	SEC23B	18470950	1.000000	0.71417	0.873000	0.34254	0.550000	0.35303	7.651000	0.83577	2.567000	0.86603	0.655000	0.94253	CCG		0.532	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			5	233	5	233	---	---	---	---	A	18522950	C	A	18522950	3	1	130	1	0	0	0	0	1	0	0	0	13992	652	23	1	1461	1	SEC23B	20	18522950	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		18522950	44502570	257	6161										
PAX1	5075	broad.mit.edu	37	chr20	21687334	21687334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacgtggtcaagcacatccGggactacaagcaaggagacc	11	12	1	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.chr20:21687334G>T	ENST00000398485.2	+	2	599	c.545G>T	c.(544-546)cGg>cTg	p.R182L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R158L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	182	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				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						AAGCACATCCGGGACTACAAG	0.637																																						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.(544-546)cGg>cTg		paired box 1							59	61	61					20																	21687334		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687334G>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.545G>T	20.37:g.21687334G>T	ENSP00000381499:p.Arg182Leu		Somatic				PAX1_ENST00000444366.2_Missense_Mutation_p.R158L|PAX1_ENST00000460221.1_Intron	p.R182L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	WXS	Illumina GAIIx	Phase_I	P15863	PAX1_HUMAN			2	599	+			182			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.545G>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832314	0.71258	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99214	-5.57;-5.57	5.63	4.66	0.58398	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	0.98826	0.9604	L	0.32530	0.975	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.478	D;D;B	0.72982	0.979;0.974;0.224	D	0.99898	1.1153	10	0.62326	D	0.03	.	15.482	0.75534	0.0:0.0:0.8601:0.1399	.	158;88;182	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	L	182;158	ENSP00000381499:R182L;ENSP00000410355:R158L	ENSP00000381499:R182L	R	+	2	0	PAX1	21635334	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	7.763000	0.85283	1.347000	0.45714	0.655000	0.94253	CGG		0.637	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	107	5	107	---	---	---	---	T	21687334	G	T	21687334	3	4	130	1	0	0	0	0	1	0	0	0	11478	1116	39	1	551	1	PAX1	20	21687334	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	3164384	21687334	41338186	258	6162										
MOCS3	8813	broad.mit.edu	37	chr20	49576642	49576642	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaatgactcacagaaagcCgtgaagatcctccagtcctt	9	11	1	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.chr20:49576642C>A	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Silent_p.A421A|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						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						CACAGAAAGCCGTGAAGATCC	0.498																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1261-1263)gcC>gcA		molybdenum cofactor synthesis 3							93	96	95					20																	49576642		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576642C>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		20.37:g.49576642C>A	Exception_encountered		Somatic					p.A421A	NM_014484.3	NP_055299.1	WXS	Illumina GAIIx	Phase_I	O95396	MOCS3_HUMAN			1	1280	+			421			Rhodanese.		O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.1263C>A	CCDS13434.1																																																																																				0.498	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		5	141	5	141	---	---	---	---	A	49576642	C	A	49576642	1	1	130	0	1	0	0	0	0	0	0	0	9692	639	23	1		1	MOCS3	20	49576642	5'Flank	SNP	C	TCGA-G9-6351-01A-21D-1961-08	27889308	49576642	13448878	259	6163										
NFATC2	4773	broad.mit.edu	37	chr20	50140226	50140226	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacgcagggcgaggtgtagGgggagaaggtgtcagaaatg	20	4	1	3	rs148866792		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.chr20:50140226G>T	ENST00000396009.3	-	2	773	c.554C>A	c.(553-555)cCc>cAc	p.P185H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000371564.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	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	185	3 X approximate SP repeats.|Trans-activation domain A (TAD-A).				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)					CGAGGTGTAGGGGGAGAAGGT	0.632																																						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.(553-555)cCc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							33	41	38					20																	50140226		2201	4300	6501	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.chr20:50140226G>T	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.554C>A	20.37:g.50140226G>T	ENSP00000379330:p.Pro185His		Somatic				NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	p.P185H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			2	773	-	Hepatocellular(150;0.248)		185			3 X approximate SP repeats.|Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.554C>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451281	0.84209	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	D;D;D	0.92149	-2.98;-2.98;-2.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	L	0.57536	1.79	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;0.999	D	0.95562	0.8630	10	0.87932	D	0	-21.5443	19.6231	0.95667	0.0:0.0:1.0:0.0	.	165;165;185;185	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	185;185;165	ENSP00000360619:P185H;ENSP00000379330:P185H;ENSP00000396471:P165H	ENSP00000360619:P185H	P	-	2	0	NFATC2	49573633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.441000	0.97557	2.643000	0.89663	0.462000	0.41574	CCC		0.632	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	59	5	59	---	---	---	---	T	50140226	G	T	50140226	3	4	130	1	0	0	0	0	1	0	0	0	10362	1232	43	1	2307	1	NFATC2	20	50140226	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	563584	50140226	12885294	260	6164										
SLC17A9	63910	broad.mit.edu	37	chr20	61594048	61594048	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagagcatcttctatttctcCggcggcctcaccttgctttg	8	14	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.chr20:61594048C>A	ENST00000370351.4	+	5	701	c.570C>A	c.(568-570)tcC>tcA	p.S190S	SLC17A9_ENST00000370349.3_Silent_p.S184S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					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						TCTATTTCTCCGGCGGCCTCA	0.637																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(550-552)tcC>tcA		solute carrier family 17 (vesicular nucleotide transporter), member 9							115	134	128					20																	61594048		1997	4150	6147	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594048C>A	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.570C>A	20.37:g.61594048C>A			Somatic				SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR	p.S184S			WXS	Illumina GAIIx	Phase_I	Q9BYT1	S17A9_HUMAN			6	756	+			190					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.552C>A	CCDS42901.1																																																																																				0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		6	170	6	170	---	---	---	---	A	61594048	C	A	61594048	2	1	130	1	0	0	0	0	0	0	0	1	14424	639	23	1		1	SLC17A9	20	61594048	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	11453822	61594048	1431472	261	6165										
MYT1	4661	broad.mit.edu	37	chr20	62839624	62839624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggacgaggacacccactccCggaagtcaacagtcactgac	10	14	2	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.chr20:62839624C>A	ENST00000328439.1	+	7	1439	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.R359R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.R359W(1)		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)					CACCCACTCCCGGAAGTCAAC	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Substitution - Missense(1)	p.R359W(1)	liver(1)	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.(1075-1077)Cgg>Agg		myelin transcription factor 1							102	96	98					20																	62839624		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839624C>A	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.1075C>A	20.37:g.62839624C>A			Somatic				MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R359R	p.R359R			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			7	1439	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		359					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1075C>A	CCDS13558.1																																																																																				0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	89	5	89	---	---	---	---	A	62839624	C	A	62839624	2	1	130	1	0	0	0	0	0	0	0	1	10106	643	23	1		1	MYT1	20	62839624	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	1245576	62839624	185896	262	6166										
RNF160	26046	broad.mit.edu	37	chr21	30318243	30318243	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attatttctatatttacaccCagtacctctggacttgcttc	4	11	2	0			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.chr21:30318243C>A	ENST00000361371.5	-	21	3733	c.3654G>T	c.(3652-3654)ctG>ctT	p.L1218L	LTN1_ENST00000389194.2_Silent_p.L1264L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1218					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						TATTTACACCCAGTACCTCTG	0.353																																						ENST00000389194.2																			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.(3790-3792)ctG>ctT		listerin E3 ubiquitin protein ligase 1							91	99	96					21																	30318243		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30318243C>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.3654G>T	21.37:g.30318243C>A			Somatic				LTN1_ENST00000361371.5_Silent_p.L1218L	p.L1264L	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			21	3797	-			1218					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.3792G>T																																																																																					0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		5	74	5	74	---	---	---	---	A	30318243	C	A	30318243	2	1	130	1	0	0	0	0	0	0	0	1	13455	581	21	1		1	RNF160	21	30318243	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		30318243	17811652	263	6167										
TMPRSS2	7113	broad.mit.edu	37	chr21	42839793	42839793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atattgttcttcgaagtgacCagaggccctccactgtcacc	8	13	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.chr21:42839793C>T	ENST00000332149.5	-	13	1469	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000398585.3_Silent_p.L482L	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	7113				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			Somatic				TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	p.L482L	NM_001135099.1	NP_001128571.1	WXS	Illumina GAIIx	Phase_I	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	8	78	---	---	---	---	T	42839793	C	T	42839793	2	4	130	1	0	0	0	0	0	0	0	1	16244	581	21	2		2	TMPRSS2	21	42839793	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	12521550	42839793	5290102	264	6168										
PWP2	5822	broad.mit.edu	37	chr21	45535158	45535158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccaggtgctttgtggttGggagcaaagacatgtccacc	12	9	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.chr21:45535158G>T	ENST00000291576.7	+	6	611	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	162					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTTGTGGTTGGGAGCAAAGA	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(484-486)Ggg>Tgg		PWP2 periodic tryptophan protein homolog (yeast)							160	146	150					21																	45535158		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45535158G>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.484G>T	21.37:g.45535158G>T	ENSP00000291576:p.Gly162Trp		Somatic					p.G162W	NM_005049.2	NP_005040.2	WXS	Illumina GAIIx	Phase_I	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	6	611	+			162					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.484G>T	CCDS33579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.658597|2.658597	0.47467|0.47467	.|.	.|.	ENSG00000241945|ENSG00000241945	ENST00000291576|ENST00000456705	T|T	0.50001|0.57107	0.76|0.42	4.46|4.46	4.46|4.46	0.54185|0.54185	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|T	0.76449|0.76449	0.3989|0.3989	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|7	0.87932|0.62326	D|D	0|0.03	-8.8753|-8.8753	17.1005|17.1005	0.86648|0.86648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162|.	Q15269|.	PWP2_HUMAN|.	W|F	162|128	ENSP00000291576:G162W|ENSP00000411749:L128F	ENSP00000291576:G162W|ENSP00000411749:L128F	G|L	+|+	1|3	0|2	PWP2|PWP2	44359586|44359586	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.914000|0.914000	0.54420|0.54420	9.480000|9.480000	0.97931|0.97931	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		6	173	6	173	---	---	---	---	T	45535158	G	T	45535158	3	4	130	1	0	0	0	0	1	0	0	0	12844	1348	47	1	506	1	PWP2	21	45535158	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	2695365	45535158	2594737	265	6169										
AP1B1	162	broad.mit.edu	37	chr22	29727447	29727447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatgactcacccatcttccCgtcctccacaaagaggatgt	6	15	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.chr22:29727447C>A	ENST00000405198.1	-	18	2546	c.2515G>T	c.(2515-2517)Ggg>Tgg	p.G839W	AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000357586.2_Missense_Mutation_p.G839W|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	839					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						CCCATCTTCCCGTCCTCCACA	0.577																																						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.(2515-2517)Ggg>Tgg		adaptor-related protein complex 1, beta 1 subunit							189	182	185					22																	29727447		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.chr22:29727447C>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.2515G>T	22.37:g.29727447C>A	ENSP00000384194:p.Gly839Trp		Somatic				AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000405198.1_Missense_Mutation_p.G839W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR	p.G839W	NM_001127.3	NP_001118	WXS	Illumina GAIIx	Phase_I	Q10567	AP1B1_HUMAN			19	2701	-			839					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2515G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569623	0.65765	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.35789	1.29;1.3;1.29;1.29;1.48;1.29;1.29	4.51	4.51	0.55191	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.82193	2.58	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	T	0.71358	-0.4617	10	0.87932	D	0	-21.6186	16.984	0.86335	0.0:1.0:0.0:0.0	.	392;812;832;839;832;36	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	W	839;832;832;839;812;832;832	ENSP00000350199:G839W;ENSP00000348297:G832W;ENSP00000400065:G832W;ENSP00000384194:G839W;ENSP00000319361:G812W;ENSP00000386071:G832W;ENSP00000387612:G832W	ENSP00000319361:G812W	G	-	1	0	AP1B1	28057447	1.000000	0.71417	0.988000	0.46212	0.218000	0.24690	7.598000	0.82745	2.328000	0.79073	0.557000	0.71058	GGG		0.577	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		6	202	6	202	---	---	---	---	A	29727447	C	A	29727447	3	1	130	1	0	0	0	0	1	0	0	0	731	652	23	1	354	1	AP1B1	22	29727447	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		29727447	21577119	266	6170										
HMGXB4	10042	broad.mit.edu	37	chr22	35661213	35661213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcccagttcgcagagtccCacagtgctaaccttgatctt	7	15	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.chr22:35661213C>A	ENST00000216106.5	+	5	960	c.832C>A	c.(832-834)Cac>Aac	p.H278N	HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	278					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCAGAGTCCCACAGTGCTAA	0.517																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(832-834)Cac>Aac		HMG box domain containing 4							78	75	76					22																	35661213		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661213C>A	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.832C>A	22.37:g.35661213C>A	ENSP00000216106:p.His278Asn		Somatic				HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	p.H278N	NM_001003681.2	NP_001003681.1	WXS	Illumina GAIIx	Phase_I	Q9UGU5	HMGX4_HUMAN			5	960	+			278					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.832C>A	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505094	0.44558	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.44881	0.91;2.26;0.91;2.26	5.71	5.71	0.89125	.	0.373480	0.31747	N	0.007140	T	0.33904	0.0879	N	0.24115	0.695	0.38661	D	0.952079	B	0.23650	0.089	B	0.16722	0.016	T	0.17992	-1.0351	10	0.66056	D	0.02	-4.6863	18.4046	0.90529	0.0:1.0:0.0:0.0	.	278	Q9UGU5	HMGX4_HUMAN	N	169;169;169;278	ENSP00000401658:H169N;ENSP00000398302:H169N;ENSP00000415500:H169N;ENSP00000216106:H278N	ENSP00000216106:H278N	H	+	1	0	HMGXB4	33991213	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	3.005000	0.49521	2.861000	0.98227	0.650000	0.86243	CAC		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		5	65	5	65	---	---	---	---	A	35661213	C	A	35661213	3	1	130	1	0	0	0	0	1	0	0	0	7239	594	21	1	846	1	HMGXB4	22	35661213	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	5933766	35661213	15643353	267	6171										
SMCR7L	54471	broad.mit.edu	37	chr22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgatctctgtgcctcaagAtcctcaaggccatatgcaag	9	13	3	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_ENST00000404569.1_Missense_Mutation_p.I366F|MIEF1_ENST00000402881.1_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											c.(1096-1098)Atc>Ttc		mitochondrial elongation factor 1							65	57	60					22																	39910032		2203	4300	6503	SO:0001583	missense	54471							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		Somatic	OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	p.I366F	NM_019008.4	NP_061881.2	WXS	Illumina GAIIx	Phase_I					6	1520	+			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	14	74	---	---	---	---	T	39910032	A	T	39910032	3	4	130	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	4248819	39910032	11394534	268	6172										
SBF1	6305	broad.mit.edu	37	chr22	50905973	50905973	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctcaccctgaacacctcCgtgtggtcgagtcgcgacac	11	16	1	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.chr22:50905973C>A	ENST00000390679.3	-	4	610	c.426G>T	c.(424-426)acG>acT	p.T142T	SBF1_ENST00000380817.3_Silent_p.T142T|SBF1_ENST00000348911.6_Silent_p.T143T			O95248	MTMR5_HUMAN	SET binding factor 1	142	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)		TGAACACCTCCGTGTGGTCGA	0.657																																						ENST00000380817.3																			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.(424-426)acG>acT		SET binding factor 1							78	90	86					22																	50905973		2173	4259	6432	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905973C>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.426G>T	22.37:g.50905973C>A			Somatic				SBF1_ENST00000348911.6_Silent_p.T143T|SBF1_ENST00000390679.3_Silent_p.T142T	p.T142T	NM_002972.2	NP_002963.2	WXS	Illumina GAIIx	Phase_I	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	4	609	-		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)				DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.426G>T																																																																																					0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	116	5	116	---	---	---	---	A	50905973	C	A	50905973	2	1	130	1	0	0	0	0	0	0	0	1	13858	639	23	1		1	SBF1	22	50905973	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	10995941	50905973	398593	269	6173										
SHOX	6473	broad.mit.edu	37	chrX	591826	591826	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcacggagggcggcggccActgcccggtgcatttgttca	14	13	2	0			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_ENST00000381578.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_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		Somatic				SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	p.H65L	NM_000451.3	NP_000442.1	WXS	Illumina GAIIx	Phase_I	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	22	141	---	---	---	---	T	591826	A	T	591826	3	4	130	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	270	6174										
SYTL4	94121	broad.mit.edu	37	chrX	99956498	99956498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccaggtaccattgctttcCtgtatgcggcagtcccgaca	9	14	0	0			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:99956498C>A	ENST00000372989.1	-	5	613	c.282G>T	c.(280-282)caG>caT	p.Q94H	SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000372981.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	94	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CATTGCTTTCCTGTATGCGGC	0.582																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(280-282)caG>caT		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110	93	99					X																	99956498		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956498C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.282G>T	X.37:g.99956498C>A	ENSP00000362080:p.Gln94His		Somatic				SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H	p.Q94H			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			3	468	-			94			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.282G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	0.226	-1.024555	0.02061	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.25	-0.0317	0.13908	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.645253	0.16762	N	0.200564	T	0.46737	0.1408	N	0.04636	-0.2	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.22906	-1.0203	9	.	.	.	-6.4622	1.4789	0.02432	0.2858:0.3069:0.2543:0.153	.	94;94	Q96C24-2;Q96C24	.;SYTL4_HUMAN	H	94	ENSP00000362080:Q94H;ENSP00000390252:Q94H;ENSP00000403556:Q94H;ENSP00000276141:Q94H;ENSP00000263033:Q94H;ENSP00000362072:Q94H	.	Q	-	3	2	SYTL4	99843154	0.892000	0.30473	0.825000	0.32803	0.064000	0.16182	-0.019000	0.12546	-0.066000	0.12998	-0.945000	0.02674	CAG		0.582	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		6	81	6	81	---	---	---	---	A	99956498	C	A	99956498	3	1	130	1	0	0	0	0	1	0	0	0	15482	680	24	1	1793	1	SYTL4	23	99956498	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	99364672	99956498	55314062	271	6175										
SEPT6	23157	broad.mit.edu	37	chrX	118767429	118767429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcccctaggaactcgttcCttttggcctcatatgtctcc	7	14	2	0			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:118767429C>A	ENST00000343984.5	-	8	1247	c.983G>T	c.(982-984)aGg>aTg	p.R328M	SEPT6_ENST00000467310.1_5'Flank|SEPT6_ENST00000394610.1_Missense_Mutation_p.R328M|SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	328					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						GAACTCGTTCCTTTTGGCCTC	0.448			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.(982-984)aGg>aTg		septin 6							224	209	214					X																	118767429		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118767429C>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.983G>T	X.37:g.118767429C>A	ENSP00000341524:p.Arg328Met		Somatic				SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000343984.5_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M	p.R328M	NM_145799.3	NP_665798.1	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			8	1247	-			328					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.983G>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141375	0.77775	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.996;0.997	D;D;D;P	0.72075	0.976;0.973;0.91;0.903	D	0.94105	0.7365	10	0.87932	D	0	.	17.254	0.87050	0.0:1.0:0.0:0.0	.	358;270;328;328	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	M	328;328;328;328;328;328;270;358	ENSP00000353278:R328M;ENSP00000346169:R328M;ENSP00000418715:R328M;ENSP00000346397:R328M;ENSP00000378108:R328M;ENSP00000341524:R328M;ENSP00000378114:R270M;ENSP00000378115:R358M	ENSP00000341524:R328M	R	-	2	0	SEPT6	118651457	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	7.471000	0.80985	2.286000	0.76751	0.556000	0.70494	AGG		0.448	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		6	208	6	208	---	---	---	---	A	118767429	C	A	118767429	3	1	130	1	0	0	0	0	1	0	0	0	14068	681	24	1	355	1	SEPT6	23	118767429	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	18810931	118767429	36503131	272	6176										
BRS3	680	broad.mit.edu	37	chrX	135572582	135572582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactattccttgattgctaGgaccctttacaaaagcaccc	5	13	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.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		Somatic					p.R242K	NM_001727.1	NP_001718.1	WXS	Illumina GAIIx	Phase_I	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	13	20	---	---	---	---	A	135572582	G	A	135572582	3	1	130	1	0	0	0	0	1	0	0	0	1522	1000	35	2	731	2	BRS3	23	135572582	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	16805153	135572582	19697978	273	6177										
HIVEP3	59269	broad.mit.edu	37	chr1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgaccgtggtggtgactcgGcctgacctggagaccatctc	13	13	1	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.chr1:41978662G>A	ENST00000372583.1	-	8	7115	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_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		Somatic				HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V	p.A2077V	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	A	41978662	G	A	41978662	3	1	131	1	0	0	0	0	1	0	0	0	7188	1203	42	2	998	2	HIVEP3	1	41978662	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		41978662	207271959	1	6178										
KIRREL	55243	broad.mit.edu	37	chr1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgaggttcacaacaaagtggGaagcaccaatgtcagcactt	10	9	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.chr1:158057909G>T	ENST00000359209.6	+	7	948	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000368172.1_Missense_Mutation_p.G92V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V			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		Somatic	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.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V	p.G92V			WXS	Illumina GAIIx	Phase_I	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	7	253	---	---	---	---	T	158057909	G	T	158057909	3	4	131	1	0	0	0	0	1	0	0	0	8324	1174	41	3	907	3	KIRREL	1	158057909	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	116079247	158057909	91192712	2	6179										
C2orf34	79823	broad.mit.edu	37	chr2	44933479	44933479	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacatgcttggctgggctcaTggtaggtcttttctccattc	11	10	3	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.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.(490-492)aTg>aGg		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			Somatic					p.M164R	NM_024766.4	NP_079042.1	WXS	Illumina GAIIx	Phase_I	Q7Z624	CMKMT_HUMAN			5	535	+			164					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37	c.491T>G	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	5	155	---	---	---	---	G	44933479	T	G	44933479	5	3	131	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	3	6180										
CLIC1	1192	broad.mit.edu	37	chr6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtgtcaacggtggtaacatTgaaggtgactcccttgagcc	13	9	1	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_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_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		Somatic				CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H	p.N42H			WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	G	31701956	T	G	31701956	3	3	131	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	4	6181										
RFX6	222546	broad.mit.edu	37	chr6	117248236	117248236	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtcatctgatgacaccaccCatttctccagccatggcaag	8	14	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.chr6:117248236C>A	ENST00000332958.2	+	17	1948	c.1932C>A	c.(1930-1932)ccC>ccA	p.P644P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	644					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						TGACACCACCCATTTCTCCAG	0.488																																						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.(1930-1932)ccC>ccA		regulatory factor X, 6							108	106	107					6																	117248236		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:117248236C>A	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.1932C>A	6.37:g.117248236C>A			Somatic					p.P644P	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			17	1948	+			644					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1932C>A	CCDS5113.1																																																																																				0.488	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		5	182	5	182	---	---	---	---	A	117248236	C	A	117248236	2	1	131	1	0	0	0	0	0	0	0	1	13267	581	21	1		1	RFX6	6	117248236	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08	85546280	117248236	53866831	5	6182										
PPP3CC	5533	broad.mit.edu	37	chr8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtatgatgcctgtatggagaCatttgactgtcttcctcttg	10	8	2	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.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	122	---	---	---	---	A	22368644	C	A	22368644	3	1	131	1	0	0	0	0	1	0	0	0	12399	478	17	3	548	3	PPP3CC	8	22368644	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		22368644	123995378	6	6183										
NUDT2	318	broad.mit.edu	37	chr9	34343327	34343327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atccgcctctcccatgagcaCcaagcctaccgctggctggg	10	17	1	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			Somatic				NUDT2_ENST00000379155.5_Silent_p.H111H|NUDT2_ENST00000346365.4_Silent_p.H111H	p.H111H	NM_001161.4	NP_001152.1	WXS	Illumina GAIIx	Phase_I	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	4	94	---	---	---	---	T	34343327	C	T	34343327	2	4	131	1	0	0	0	0	0	0	0	1	10737	506	18	2		2	NUDT2	9	34343327	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08		34343327	106870104	7	6184										
HIF1AN	55662	broad.mit.edu	37	chr10	102306905	102306905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttcctttgtagggggctccCacccctaagagaattgaata	9	11	0	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.chr10:102306905C>A	ENST00000299163.6	+	7	1003	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	301	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|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)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGGGGGCTCCCACCCCTAAGA	0.478																																						ENST00000299163.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(901-903)ccC>ccA		hypoxia inducible factor 1, alpha subunit inhibitor							44	39	41					10																	102306905		2203	4300	6503	SO:0001819	synonymous_variant	55662				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|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102306905C>A	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"Peptide-aspartate beta-dioxygenase"	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.903C>A	10.37:g.102306905C>A			Somatic					p.P301P	NM_017902.2	NP_060372.2	WXS	Illumina GAIIx	Phase_I	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	7	1003	+		Colorectal(252;0.234)				Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	ENST00000299163.6	37	c.903C>A	CCDS7498.1																																																																																				0.478	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		3	28	3	28	---	---	---	---	A	102306905	C	A	102306905	2	1	131	1	0	0	0	0	0	0	0	1	7104	581	21	1		1	HIF1AN	10	102306905	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08		102306905	33227842	8	6185										
UBQLNL	143630	broad.mit.edu	37	chr11	5536505	5536505	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tattcttcttgaagctgctgGgtaagctctatgctaggtaa	10	7	3	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.chr11:5536505G>T	ENST00000380184.1	-	1	1430	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	389										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)		GAAGCTGCTGGGTAAGCTCTA	0.502																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1165-1167)acC>acA		ubiquilin-like							172	159	164					11																	5536505		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5536505G>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.1167C>A	11.37:g.5536505G>T			Somatic				HBG2_ENST00000380259.2_Intron	p.T389T	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1430	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	389					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.1167C>A	CCDS31385.1																																																																																				0.502	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		5	159	5	159	---	---	---	---	T	5536505	G	T	5536505	2	4	131	1	0	0	0	0	0	0	0	1	16897	1219	43	1		1	UBQLNL	11	5536505	Silent	SNP	G	TCGA-G9-6353-01A-11D-1961-08		5536505	129470011	9	6186										
MGAT5B	146664	broad.mit.edu	37	chr17	74900388	74900388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acgccttctttggggtggacGgcaccgagtgctccttcctc	12	14	1	0	rs553577630		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.chr17:74900388G>T	ENST00000569840.2	+	6	1148	c.574G>T	c.(574-576)Ggc>Tgc	p.G192C	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	192					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						TGGGGTGGACGGCACCGAGTG	0.682																																						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.(574-576)Ggc>Tgc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							52	40	44					17																	74900388		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.chr17:74900388G>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.574G>T	17.37:g.74900388G>T	ENSP00000456037:p.Gly192Cys		Somatic				MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C	p.G192C	NM_001199172.1	NP_001186101.1	WXS	Illumina GAIIx	Phase_I	Q3V5L5	MGT5B_HUMAN			6	1148	+			192					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.574G>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473388	0.84640	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.57107	0.44;0.42	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	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	0.76788	-0.2830	10	0.87932	D	0	-34.1038	14.815	0.70028	0.0:0.0:1.0:0.0	.	203;192	Q3V5L5-2;Q3V5L5-5	.;.	C	192;192;203	ENSP00000301618:G192C;ENSP00000391227:G203C	ENSP00000301618:G192C	G	+	1	0	MGAT5B	72411983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.399000	0.97285	2.381000	0.81170	0.655000	0.94253	GGC		0.682	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		3	17	3	17	---	---	---	---	T	74900388	G	T	74900388	3	4	131	1	0	0	0	0	1	0	0	0	9549	1116	39	1	697	1	MGAT5B	17	74900388	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		74900388	6294822	10	6187										
IL2RB	3560	broad.mit.edu	37	chr22	37524348	37524348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggtggctgaaaatccaccaGgtctgggactcctggggtgg	17	9	1	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.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	3560				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			Somatic					p.L482L	NM_000878.3	NP_000869.1	WXS	Illumina GAIIx	Phase_I	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	5	73	---	---	---	---	A	37524348	G	A	37524348	2	1	131	1	0	0	0	0	0	0	0	1	7687	991	35	2		2	IL2RB	22	37524348	Silent	SNP	G	TCGA-G9-6353-01A-11D-1961-08		37524348	13780218	11	6188										
TIE1	7075	broad.mit.edu	37	chr1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ggaacctgctagattttctgCggaaaagccgggtcctagag	13	9	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.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		Somatic				TIE1_ENST00000433781.2_Missense_Mutation_p.R575W|TIE1_ENST00000473014.1_3'UTR	p.R930W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	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	28	298	---	---	---	---	T	43783609	C	T	43783609	3	4	132	1	0	0	0	0	1	0	0	0	15890	759	27	2	2854	2	TIE1	1	43783609	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		43783609	205467012	1	6189										
ETV3L	440695	broad.mit.edu	37	chr1	157069117	157069117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gaagtgccacagctggatctGccgggagcctggggacgact	16	11	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.chr1:157069117G>T	ENST00000454449.2	-	2	396	c.112C>A	c.(112-114)Cag>Aag	p.Q38K		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	38					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.Q38K(2)		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)				AGCTGGATCTGCCGGGAGCCT	0.617																																						ENST00000454449.2																			2	Substitution - Missense(2)	p.Q38K(2)	prostate(2)	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.(112-114)Cag>Aag		ets variant 3-like							48	48	48					1																	157069117		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157069117G>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.112C>A	1.37:g.157069117G>T	ENSP00000430271:p.Gln38Lys		Somatic					p.Q38K	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	Q6ZN32	ETV3L_HUMAN			2	396	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	38						Missense_Mutation	SNP	ENST00000454449.2	37	c.112C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041346	0.93685	.	.	ENSG00000253831	ENST00000454449	T	0.53423	0.62	4.96	4.96	0.65561	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.000000	0.36200	N	0.002737	T	0.66066	0.2752	M	0.80508	2.5	0.47153	D	0.999338	D	0.76494	0.999	D	0.91635	0.999	T	0.70699	-0.4800	10	0.72032	D	0.01	.	17.1432	0.86759	0.0:0.0:1.0:0.0	.	38	Q6ZN32	ETV3L_HUMAN	K	38	ENSP00000430271:Q38K	ENSP00000430271:Q38K	Q	-	1	0	ETV3L	155335741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.557000	0.98129	2.556000	0.86216	0.655000	0.94253	CAG		0.617	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		3	56	3	56	---	---	---	---	T	157069117	G	T	157069117	3	4	132	1	0	0	0	0	1	0	0	0	5280	1328	46	3	989	3	ETV3L	1	157069117	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	113285508	157069117	92181504	2	6190										
ZNF678	339500	broad.mit.edu	37	chr1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ttcaagaccttttgccagagCaggatatgaaagatttatgc	9	7	1	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.chr1:227842075C>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																																						ENST00000343776.5																			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*		Somatic				ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	p.Q42*	NM_178549.3	NP_848644.2	WXS	Illumina GAIIx	Phase_I	F5GXA7	F5GXA7_HUMAN			4	469	+		Prostate(94;0.0885)						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	11	134	---	---	---	---	T	227842075	C	T	227842075	4	4	132	1	0	0	0	0	0	1	0	0	18082	711	25	2	303	2	ZNF678	1	227842075	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	70772958	227842075	21408546	3	6191										
LPIN1	23175	broad.mit.edu	37	chr2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	catcctccagtgatgaggagCgcgcagctgccaagccatca	11	14	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.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C	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		Somatic				LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C	p.R605C	NM_145693.2	NP_663731.1	WXS	Illumina GAIIx	Phase_I	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	19	172	---	---	---	---	T	11943067	C	T	11943067	3	4	132	1	0	0	0	0	1	0	0	0	8918	768	27	2	1863	2	LPIN1	2	11943067	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		11943067	231256306	4	6192										
SNRNP27	11017	broad.mit.edu	37	chr2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	cctatgccataaatgtctctCagaagaggaagtacaggtat	9	8	2	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.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*		Somatic				SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	p.Q133*	NM_006857.2	NP_006848.1	WXS	Illumina GAIIx	Phase_I	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	10	117	---	---	---	---	T	70130361	C	T	70130361	4	4	132	1	0	0	0	0	0	1	0	0	14854	827	29	2	415	2	SNRNP27	2	70130361	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	58187294	70130361	173069012	5	6193										
ABCF3	55324	broad.mit.edu	37	chr3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ttgagaagttctcgccgccaAttctgcagctagatgaggtg	12	9	2	3	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		Somatic				EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L	p.I491L	NM_018358.2	NP_060828.2	WXS	Illumina GAIIx	Phase_I	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	8	119	---	---	---	---	C	183908945	A	C	183908945	3	2	132	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	6	6194										
MSH3	4437	broad.mit.edu	37	chr5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	aaccttcccgatataggctaCagaaattgacagaagaaaga	8	8	0	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_ENST00000505337.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_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		Somatic					p.T81K	NM_002439.4	NP_002430.3	WXS	Illumina GAIIx	Phase_I	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	10	140	---	---	---	---	A	79952234	C	A	79952234	3	1	132	1	0	0	0	0	1	0	0	0	9871	478	17	3	248	3	MSH3	5	79952234	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		79952234	100963026	7	6195										
HLA-F	3134	broad.mit.edu	37	chr6	29694720	29694720	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gtcaagcttatttctcctggGggtgctcttccaaggatatt	10	9	3	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.chr6:29694720G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron|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			Somatic				HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron	p.G237E			WXS	Illumina GAIIx	Phase_I	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	11	132	---	---	---	---	A	29694720	G	A	29694720	1	1	132	0	1	0	0	0	0	0	0	0	7211	1232	43	2		2	HLA-F	6	29694720	IGR	SNP	G	TCGA-G9-6356-01A-11D-1786-08		29694720	141420347	8	6196										
C6orf204	387119	broad.mit.edu	37	chr6	118790443	118790443	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ccctgatccaataaagagcaTgtctcatctgtttgtctttg	7	10	3	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.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			Somatic				CEP85L_ENST00000368488.5_Silent_p.T685T	p.T682T	NM_001042475.2	NP_001035940.1	WXS	Illumina GAIIx	Phase_I	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	10	123	---	---	---	---	G	118790443	T	G	118790443	2	3	132	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	9	6197										
GSDMD	79792	broad.mit.edu	37	chr8	144643931	144643931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ggccacaagcgttccacgagCgaaggcgcctggccacagct	13	15	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.chr8:144643931C>A	ENST00000526406.1	+	10	1639	c.756C>A	c.(754-756)agC>agA	p.S252R	GSDMD_ENST00000262580.4_Missense_Mutation_p.S252R|GSDMD_ENST00000533063.1_Missense_Mutation_p.S300R	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	252					cellular response to extracellular stimulus (GO:0031668)			p.S252R(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTCCACGAGCGAAGGCGCCT	0.672																																						ENST00000526406.1																			1	Substitution - Missense(1)	p.S252R(1)	prostate(1)	breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(754-756)agC>agA		gasdermin D							31	29	30					8																	144643931		2189	4295	6484	SO:0001583	missense	79792							g.chr8:144643931C>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.756C>A	8.37:g.144643931C>A	ENSP00000433209:p.Ser252Arg		Somatic				GSDMD_ENST00000533063.1_Missense_Mutation_p.S300R|GSDMD_ENST00000262580.4_Missense_Mutation_p.S252R	p.S252R	NM_001166237.1	NP_001159709.1	WXS	Illumina GAIIx	Phase_I	P57764	GSDMD_HUMAN			10	1639	+			252					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.756C>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596932	0.28445	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.35	-8.71	0.00848	.	6.940960	0.00166	N	0.000000	T	0.13543	0.0328	L	0.27053	0.805	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.013	B;B;B	0.11329	0.006;0.006;0.006	T	0.13791	-1.0496	10	0.21014	T	0.42	20.479	3.5413	0.07812	0.0802:0.3542:0.2765:0.2891	.	252;252;300	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	R	252;300;252;268	ENSP00000433209:S252R;ENSP00000433958:S300R;ENSP00000262580:S252R;ENSP00000436684:S268R	ENSP00000262580:S252R	S	+	3	2	GSDMD	144715074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.849000	0.00733	-3.130000	0.00236	-1.328000	0.01277	AGC		0.672	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		3	15	3	15	---	---	---	---	A	144643931	C	A	144643931	3	1	132	1	0	0	0	0	1	0	0	0	6819	767	27	3	778	3	GSDMD	8	144643931	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		144643931	1720091	10	6198										
LHX3	8022	broad.mit.edu	37	chr9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ctccatgaggtagaactcgtCgcccgtggccagctgccgct	12	15	0	2	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		Somatic				LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	p.D134Y	NM_014564.3	NP_055379.1	WXS	Illumina GAIIx	Phase_I	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	9	38	---	---	---	---	A	139091593	C	A	139091593	3	1	132	1	0	0	0	0	1	0	0	0	8772	884	31	3	824	3	LHX3	9	139091593	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		139091593	2121838	11	6199										
NTM	50863	broad.mit.edu	37	chr11	132081914	132081914	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	tcattctgtcttgtttccacAgtatctcccaaaattgtaga	5	10	4	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.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000539799.1_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			Somatic				NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000427481.2_Splice_Site		NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	WXS	Illumina GAIIx	Phase_I	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	4	35	---	---	---	---	C	132081914	A	C	132081914	5	2	132	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		132081914	2924602	12	6200										
CHD4	1108	broad.mit.edu	37	chr12	6686950	6686950	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	tattcctccccaaccgctcaCcttaaaccttcgagctagaa	4	16	1	1	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		CHD4_ENST00000309577.6_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_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			Somatic				CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	T	6686950	C	T	6686950	5	4	132	1	0	0	0	0	0	0	1	0	3327	521	18	2	392	2	CHD4	12	6686950	Splice_Site	SNP	C	TCGA-G9-6356-01A-11D-1786-08		6686950	127164945	13	6201										
PLEKHA5	54477	broad.mit.edu	37	chr12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	aatggaaagaataagaagacAtcaacaagcgtgcctgaggg	12	6	1	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.chr12:19511256A>G	ENST00000299275.6	+	21	2741	c.2735A>G	c.(2734-2736)cAt>cGt	p.H912R	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|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.H970R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R	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		Somatic				PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R	p.H970R	NM_001143821.2	NP_001137293.2	WXS	Illumina GAIIx	Phase_I	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	4	36	---	---	---	---	G	19511256	A	G	19511256	3	3	132	1	0	0	0	0	1	0	0	0	12059	217	8	2	3135	2	PLEKHA5	12	19511256	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08	12824306	19511256	114340639	14	6202										
PFKM	5213	broad.mit.edu	37	chr12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ctgggaggtgtacaagcttcTagctcatgtcagacccccgg	12	12	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.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_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000340802.6_Missense_Mutation_p.L459P	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		Somatic				PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P	p.L459P	NM_001166686.1	NP_001160158.1	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	C	48533667	T	C	48533667	3	2	132	1	0	0	0	0	1	0	0	0	11765	1522	53	2	1430	2	PFKM	12	48533667	Missense_Mutation	SNP	T	TCGA-G9-6356-01A-11D-1786-08	29022411	48533667	85318228	15	6203										
LRIG3	121227	broad.mit.edu	37	chr12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gcaactcacagctcactgagCttctggcagaactcccaggc	9	15	3	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.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		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	p.K312N	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	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	8	77	---	---	---	---	G	59282122	C	G	59282122	3	3	132	1	0	0	0	0	1	0	0	0	8946	796	28	4	2475	4	LRIG3	12	59282122	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	10748455	59282122	74569773	16	6204										
ZFC3H1	196441	broad.mit.edu	37	chr12	72036214	72036214	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ggtttcaagttttggctcatAcctggagaactggtttcact	10	8	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.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			Somatic						NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	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	7	68	---	---	---	---	C	72036214	A	C	72036214	5	2	132	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	17	6205										
ANAPC5	51433	broad.mit.edu	37	chr12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	tagttcttggcttcattgagGttctcgatggcagcctccag	11	10	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.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_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|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		Somatic				ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K	p.N693K	NM_016237.4	NP_057321.2	WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	T	121746472	G	T	121746472	3	4	132	1	0	0	0	0	1	0	0	0	605	1252	44	3	192	3	ANAPC5	12	121746472	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	49710258	121746472	12105423	18	6206										
COG3	83548	broad.mit.edu	37	chr13	46066301	46066301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ttgtttactgcaggttcgtaGtggctgtgccttcatggttc	12	8	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.chr13:46066301G>T	ENST00000349995.5	+	11	1215	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	368					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)	p.S368I(1)		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)		CAGGTTCGTAGTGGCTGTGCC	0.383																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			1	Substitution - Missense(1)	p.S368I(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1102-1104)aGt>aTt		component of oligomeric golgi complex 3							217	175	189					13																	46066301		2203	4300	6503	SO:0001583	missense	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.chr13:46066301G>T	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.1103G>T	13.37:g.46066301G>T	ENSP00000258654:p.Ser368Ile		Somatic				COG3_ENST00000465942.1_3'UTR	p.S368I	NM_031431.3	NP_113619	WXS	Illumina GAIIx	Phase_I	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	11	1215	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	368					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1103G>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962017	0.92791	.	.	ENSG00000136152	ENST00000349995	T	0.48836	0.8	5.87	5.87	0.94306	.	0.040815	0.85682	D	0.000000	T	0.64227	0.2579	L	0.58583	1.82	0.80722	D	1	D;D;D	0.69078	0.985;0.997;0.967	P;D;P	0.63597	0.901;0.916;0.491	T	0.56998	-0.7886	10	0.30854	T	0.27	-7.337	19.1915	0.93669	0.0:0.0:1.0:0.0	.	205;368;368	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	I	368	ENSP00000258654:S368I	ENSP00000258654:S368I	S	+	2	0	COG3	44964302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.615000	0.98356	2.779000	0.95612	0.655000	0.94253	AGT		0.383	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			3	34	3	34	---	---	---	---	T	46066301	G	T	46066301	3	4	132	1	0	0	0	0	1	0	0	0	3659	1029	36	3	1145	3	COG3	13	46066301	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		46066301	69103577	19	6207										
PLA2G4F	255189	broad.mit.edu	37	chr15	42446634	42446634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gccgtgggcagccacagttgCacatagcagtcggctttgga	14	11	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.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			Somatic				PLA2G4F_ENST00000382396.4_Silent_p.V69V	p.V69V	NM_213600.3	NP_998765.3	WXS	Illumina GAIIx	Phase_I	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	5	32	---	---	---	---	T	42446634	C	T	42446634	2	4	132	1	0	0	0	0	0	0	0	1	12006	697	25	2		2	PLA2G4F	15	42446634	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		42446634	60084758	20	6208										
KIAA0182	23199	broad.mit.edu	37	chr16	85701839	85701840	+	Frame_Shift_Ins	INS	-	-	T													0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	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.(3223-3228)cctccafs		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		Somatic				GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs	p.P1076fs	NM_014615.2	NP_055430.1	WXS	Illumina GAIIx	Phase_I					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	132	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	21	6209										
USH1G	124590	broad.mit.edu	37	chr17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ggagctctgcagccgaccccGcggcgctcccaccccatcca	10	21	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.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		Somatic					p.R343W	NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	A	72915904	G	A	72915904	3	1	132	1	0	0	0	0	1	0	0	0	17032	1086	38	2	366	2	USH1G	17	72915904	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		72915904	8279306	22	6210										
DNAH17	8632	broad.mit.edu	37	chr17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gaagctgatggaggccttgaCttcccactacaaagatgaga	11	9	0	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.chr17:76459153C>T	ENST00000585328.1	-	57	9056	c.8932G>A	c.(8932-8934)Gtc>Atc	p.V2978I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V2969I|DNAH17_ENST00000586052.1_5'UTR	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		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR	p.V2969I			WXS	Illumina GAIIx	Phase_I			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	3	27	---	---	---	---	T	76459153	C	T	76459153	3	4	132	1	0	0	0	0	1	0	0	0	4601	565	20	2	4541	2	DNAH17	17	76459153	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3543249	76459153	4736057	23	6211										
PSG1	5669	broad.mit.edu	37	chr19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ctgagttacgaacagagcaaAcatagagcccgctatgcttt	9	10	0	3	rs1058795	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.chr19:43372318A>G	ENST00000436291.2	-	5	1294	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	PSG1_ENST00000312439.6_Missense_Mutation_p.V393A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000244296.2_Missense_Mutation_p.V393A	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	393	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)				AACAGAGCAAACATAGAGCCC	0.458													.|||	2	0.000399361	8e-04	0	5008	,	,		19000	0.001		0	False		,,,				2504	0					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.(1177-1179)gTt>gCt		pregnancy specific beta-1-glycoprotein 1		A	ALA/VAL,ALA/VAL,ALA/VAL	1,4403		0,1,2201	203	206	205		1178,1178,1178	-3	0	19	dbSNP_86	205	3,8593		0,3,4295	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	64,64,64	0,4,6496	GG,GA,AA		0.0349,0.0227,0.0308	,,	393/420,393/418,393/427	43372318	4,12996	2202	4298	6500	SO:0001583	missense	5669							g.chr19:43372318A>G		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.1178T>C	19.37:g.43372318A>G	ENSP00000413041:p.Val393Ala		Somatic				PSG1_ENST00000436291.2_Missense_Mutation_p.V393A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A	p.V393A	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					5	1315	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1178T>C	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.890596	0.00060	2.27E-4	3.49E-4	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	1.51	-3.02	0.05446	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	N	0.16567	0.415	0.09310	N	1	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	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.002	T	0.43114	-0.9411	9	0.02654	T	1	.	0.553	0.00666	0.3393:0.1796:0.3032:0.1779	rs1058795	393;300;393;300;393;300;265	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	A	393;300;393;393	ENSP00000413041:V393A;ENSP00000385386:V300A;ENSP00000308970:V393A;ENSP00000244296:V393A	ENSP00000244296:V393A	V	-	2	0	PSG1	48064158	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.213000	0.02991	-3.027000	0.00267	-1.266000	0.01441	GTT		0.458	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			6	242	6	242	---	---	---	---	G	43372318	A	G	43372318	3	3	132	1	0	0	0	0	1	0	0	0	12653	43	2	2	142	2	PSG1	19	43372318	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08		43372318	15756665	24	6212										
LILRA4	23547	broad.mit.edu	37	chr19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gccctgacaccagatggtcaCggggttatgccaggtgatca	13	11	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.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		Somatic	OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.V45M	NM_012276.3	NP_036408.3	WXS	Illumina GAIIx	Phase_I	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	7	98	---	---	---	---	T	54849889	C	T	54849889	3	4	132	1	0	0	0	0	1	0	0	0	8787	536	19	2	1390	2	LILRA4	19	54849889	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	11477571	54849889	4279094	25	6213										
ZNF134	7693	broad.mit.edu	37	chr19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	gtattcacactggagaaaatCcttatgattgcagtgattgt	9	6	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.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		Somatic					p.P315S	NM_003435.3	NP_003426.3	WXS	Illumina GAIIx	Phase_I	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	4	104	---	---	---	---	T	58132430	C	T	58132430	3	4	132	1	0	0	0	0	1	0	0	0	17721	855	30	2	949	2	ZNF134	19	58132430	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3282541	58132430	996553	26	6214										
GART	2618	broad.mit.edu	37	chr21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.50462962962963	0	0.55050505050505	1	1	0	ttctccgtcaagaagttcttCaatgacaattgtttctccag	6	10	5	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.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000381815.4_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*		Somatic				GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR	p.E190*	NM_001136005.1	NP_001129477.1	WXS	Illumina GAIIx	Phase_I	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	16	168	---	---	---	---	A	34903824	C	A	34903824	4	1	132	1	0	0	0	0	0	1	0	0	6243	835	29	3	2536	3	GART	21	34903824	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		34903824	13226071	27	6215										
RHOC	389	broad.mit.edu	37	chr1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ccgcagtcgatcatagtcttCctgccctgctgtgtcccaca	8	16	2	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.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_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			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		Somatic				RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K	p.E64K			WXS	Illumina GAIIx	Phase_I	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	9	46	---	---	---	---	T	113245708	C	T	113245708	3	4	133	1	0	0	0	0	1	0	0	0	13336	864	30	2	403	2	RHOC	1	113245708	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		113245708	136004913	1	6216										
KIAA0907	22889	broad.mit.edu	37	chr1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	taatctgattcacaaatctaGagtattcagcatgaacctga	6	8	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.chr1:155891693G>C	ENST00000368321.3	-	9	994	c.971C>G	c.(970-972)tCt>tGt	p.S324C	KIAA0907_ENST00000368320.3_Missense_Mutation_p.S324C|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C	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		Somatic				KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C	p.S324C			WXS	Illumina GAIIx	Phase_I	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	9	24	---	---	---	---	C	155891693	G	C	155891693	3	2	133	1	0	0	0	0	1	0	0	0	8199	942	33	4	897	4	KIAA0907	1	155891693	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	42645985	155891693	93358928	2	6217										
KCNT2	343450	broad.mit.edu	37	chr1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gtcttcctcggcactcatggTgctctctttatccacaacca	6	15	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.chr1:196285089T>A	ENST00000294725.9	-	21	3331	c.2416A>T	c.(2416-2418)Acc>Tcc	p.T806S	KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.T782S|KCNT2_ENST00000451324.2_3'UTR			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		Somatic				KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T806S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR	p.T782S	NM_198503.2	NP_940905.2	WXS	Illumina GAIIx	Phase_I	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	14	23	---	---	---	---	A	196285089	T	A	196285089	3	1	133	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	3	6218										
KCNT2	343450	broad.mit.edu	37	chr1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ctacaaaaagcttggaggacCatgtttcaggagtgacatcc	10	9	1	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.chr1:196398768C>A	ENST00000294725.9	-	9	1673	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000609185.1_Missense_Mutation_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			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		Somatic				KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.W253L|KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron	p.W253L	NM_198503.2	NP_940905.2	WXS	Illumina GAIIx	Phase_I	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	15	28	---	---	---	---	A	196398768	C	A	196398768	3	1	133	1	0	0	0	0	1	0	0	0	8092	595	21	1	2729	1	KCNT2	1	196398768	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	113679	196398768	52851853	4	6219										
IL20	50604	broad.mit.edu	37	chr1	207040805	207040805	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tctgagtcactttgaaaaggTatatgcgactttggcattga	10	6	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.chr1:207040805T>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			Somatic				IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron				WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	C	207040805	T	C	207040805	5	2	133	1	0	0	0	0	0	0	1	0	7667	1652	57	2	469	2	IL20	1	207040805	Splice_Site	SNP	T	TCGA-G9-6361-01A-21D-1961-08	10642037	207040805	42209816	5	6220										
TCF7L1	83439	broad.mit.edu	37	chr2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	agatgagggccaaggtggtgGctgagtgcaccctgaaggaa	17	7	0	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.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		Somatic					p.A366T	NM_031283.2	NP_112573.1	WXS	Illumina GAIIx	Phase_I	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	11	72	---	---	---	---	A	85533435	G	A	85533435	3	1	133	1	0	0	0	0	1	0	0	0	15694	1203	42	2	1130	2	TCF7L1	2	85533435	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		85533435	157665938	6	6221										
TLK1	9874	broad.mit.edu	37	chr2	171862744	171862744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tcttggacagaccaaaatcaGtgattttgatttcaccacat	6	9	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.chr2:171862744G>T	ENST00000431350.2	-	18	2221	c.1817C>A	c.(1816-1818)aCt>aAt	p.T606N	TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N|TLK1_ENST00000442919.2_Missense_Mutation_p.T558N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	606	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						ACCAAAATCAGTGATTTTGAT	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.(1672-1674)aCt>aAt		tousled-like kinase 1							129	122	124					2																	171862744		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.chr2:171862744G>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.1817C>A	2.37:g.171862744G>T	ENSP00000411099:p.Thr606Asn		Somatic				TLK1_ENST00000431350.2_Missense_Mutation_p.T606N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N|TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N	p.T558N	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	Q9UKI8	TLK1_HUMAN			18	2288	-			606			Protein kinase.		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1673C>A	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028661	0.93518	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000356075;ENST00000521943;ENST00000434911	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.17	5.17	0.71159	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	0.52075	0.1712	M	0.67953	2.075	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	0.54302	-0.8314	10	0.87932	D	0	-29.4928	19.0797	0.93177	0.0:0.0:1.0:0.0	.	510;627;606	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	N	558;606;627;72;558;510	ENSP00000402165:T558N;ENSP00000411099:T606N;ENSP00000354089:T627N;ENSP00000428113:T558N;ENSP00000409222:T510N	ENSP00000348376:T72N	T	-	2	0	TLK1	171570990	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.810000	0.99221	2.583000	0.87209	0.461000	0.40582	ACT		0.363	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		6	59	6	59	---	---	---	---	T	171862744	G	T	171862744	3	4	133	1	0	0	0	0	1	0	0	0	15940	1029	36	3	499	3	TLK1	2	171862744	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	86329309	171862744	71336629	7	6222										
STK25	10494	broad.mit.edu	37	chr2	242438194	242438194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ttcaggagctccttggccgtGggccgctgcagggggtcagg	18	11	2	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.chr2:242438194G>T	ENST00000316586.4	-	8	1126	c.777C>A	c.(775-777)ccC>ccA	p.P259P	STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000543554.1_Silent_p.P165P	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	259	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)		CCTTGGCCGTGGGCCGCTGCA	0.617																																					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.(775-777)ccC>ccA		serine/threonine kinase 25							114	104	108					2																	242438194		2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438194G>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.777C>A	2.37:g.242438194G>T			Somatic				STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000543554.1_Silent_p.P165P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000478403.1_5'UTR	p.P259P	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	WXS	Illumina GAIIx	Phase_I	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)	8	1126	-		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)	259			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.777C>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	G	8.901	0.956408	0.18507	.	.	ENSG00000115694	ENST00000423004	T	0.32515	1.45	5.15	-0.0844	0.13690	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18085	-1.0348	7	0.87932	D	0	.	0.6769	0.00868	0.2716:0.2094:0.3229:0.1961	.	.	.	.	Q	141	ENSP00000404469:P141Q	ENSP00000404469:P141Q	P	-	2	0	STK25	242086867	0.250000	0.23951	0.976000	0.42696	0.879000	0.50718	-0.336000	0.07863	0.291000	0.22468	0.650000	0.86243	CCA		0.617	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		4	122	4	122	---	---	---	---	T	242438194	G	T	242438194	2	4	133	1	0	0	0	0	0	0	0	1	15293	1335	47	1		1	STK25	2	242438194	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08	70575450	242438194	761179	8	6223										
SACM1L	22908	broad.mit.edu	37	chr3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gttagctcgtcgttcacttcAggcccaacttcaggtgcgaa	10	12	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.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R|SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R	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		Somatic				SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	p.Q409R	NM_014016.3	NP_054735.3	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	G	45776852	A	G	45776852	3	3	133	1	0	0	0	0	1	0	0	0	13803	188	7	2	1280	2	SACM1L	3	45776852	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08		45776852	152245578	9	6224										
DHX30	22907	broad.mit.edu	37	chr3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tgtagaacctcatgcagttcCatactgtgggcaccaagacc	9	12	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.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_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D	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		Somatic				DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D	p.H230D	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	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	56	143	---	---	---	---	G	47884611	C	G	47884611	3	3	133	1	0	0	0	0	1	0	0	0	4504	594	21	4	842	4	DHX30	3	47884611	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	2107759	47884611	150137819	10	6225										
ARL6	84100	broad.mit.edu	37	chr3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tttgtcatttacagtgtttgAcatgtcaggtcaaggaagat	10	5	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.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	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		Somatic				ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR	p.D69G	NM_001278293.1	NP_001265222.1	WXS	Illumina GAIIx	Phase_I	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	3	85	---	---	---	---	G	97499479	A	G	97499479	3	3	133	1	0	0	0	0	1	0	0	0	941	275	10	2	216	2	ARL6	3	97499479	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08	49614868	97499479	100522951	11	6226										
GK5	256356	broad.mit.edu	37	chr3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	agaatcctccaaacttttggCcattttttcagtctcagcag	6	11	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.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		Somatic					p.A362S	NM_001039547.2	NP_001034636.1	WXS	Illumina GAIIx	Phase_I	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	13	107	---	---	---	---	A	141896383	C	A	141896383	3	1	133	1	0	0	0	0	1	0	0	0	6422	739	26	3	525	3	GK5	3	141896383	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	44396904	141896383	56126047	12	6227										
JAKMIP1	152789	broad.mit.edu	37	chr4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	cgttcagcgtggcctgcagcCgctgcagctcgccctccttg	12	17	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.chr4:6107489C>T	ENST00000282924.5	-	3	820	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	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		Somatic				JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q	p.R112Q	NM_001099433.1	NP_001092903.1	WXS	Illumina GAIIx	Phase_I	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	6	23	---	---	---	---	T	6107489	C	T	6107489	3	4	133	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	6228										
IRX2	153572	broad.mit.edu	37	chr5	2747711	2747711	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tggacgcccccgccaaccacGgtgcagccctcgctggcatc	11	19	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.chr5:2747711G>T	ENST00000382611.6	-	4	1631	c.1383C>A	c.(1381-1383)acC>acA	p.T461T	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.T461T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	461					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)			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)		CGCCAACCACGGTGCAGCCCT	0.652																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(1381-1383)acC>acA		iroquois homeobox 2							46	43	44					5																	2747711		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2747711G>T	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.1383C>A	5.37:g.2747711G>T			Somatic				IRX2_ENST00000302057.5_Silent_p.T461T	p.T461T	NM_001134222.1	NP_001127694.1	WXS	Illumina GAIIx	Phase_I	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	4	1631	-			461					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.1383C>A	CCDS3868.1																																																																																				0.652	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			4	71	4	71	---	---	---	---	T	2747711	G	T	2747711	2	4	133	1	0	0	0	0	0	0	0	1	7844	1103	39	1		1	IRX2	5	2747711	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08		2747711	178167549	14	6229										
PPIC	5480	broad.mit.edu	37	chr5	122361577	122361577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	agagccattggtgtcaggccCagcgttggccatgctgaccc	13	13	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.chr5:122361577C>A	ENST00000306442.4	-	4	527	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	138	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTGTCAGGCCCAGCGTTGGCC	0.493																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(412-414)Ggg>Tgg		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						101	81	88					5																	122361577		2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361577C>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.412G>T	5.37:g.122361577C>A	ENSP00000303057:p.Gly138Trp		Somatic					p.G138W	NM_000943.4	NP_000934.1	WXS	Illumina GAIIx	Phase_I	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	527	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	138			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.412G>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078003	0.94000	.	.	ENSG00000168938	ENST00000306442	T	0.48522	0.81	6.02	6.02	0.97574	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89758	0.3945	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	138	P45877	PPIC_HUMAN	W	138	ENSP00000303057:G138W	ENSP00000303057:G138W	G	-	1	0	PPIC	122389476	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GGG		0.493	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		4	47	4	47	---	---	---	---	A	122361577	C	A	122361577	3	1	133	1	0	0	0	0	1	0	0	0	12320	594	21	1	234	1	PPIC	5	122361577	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	119613866	122361577	58553683	15	6230										
RNASET2	8635	broad.mit.edu	37	chr6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	cttgcttagtgaggcacagtTctatctgaccaattgtctgt	9	9	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.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		Somatic				RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A	p.E162A			WXS	Illumina GAIIx	Phase_I	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	4	161	---	---	---	---	G	167343248	T	G	167343248	3	3	133	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		167343248	3771819	16	6231										
PCLO	27445	broad.mit.edu	37	chr7	82544746	82544746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	cttatgctttgactgcttttGataaagtatggctgctggca	10	7	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.chr7:82544746G>T	ENST00000333891.9	-	7	12893	c.12556C>A	c.(12556-12558)Caa>Aaa	p.Q4186K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K	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						GACTGCTTTTGATAAAGTATG	0.353																																						ENST00000333891.9																			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.(12556-12558)Caa>Aaa		piccolo presynaptic cytomatrix protein							81	77	79					7																	82544746		1866	4109	5975	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.chr7:82544746G>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.12556C>A	7.37:g.82544746G>T	ENSP00000334319:p.Gln4186Lys		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K	p.Q4186K	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	12893	-									Missense_Mutation	SNP	ENST00000333891.9	37	c.12556C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304746	0.60305	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.53	5.53	0.82687	.	.	.	.	.	T	0.42291	0.1196	M	0.65498	2.005	0.54753	D	0.99998	D;D;D	0.76494	0.979;0.997;0.999	P;D;D	0.66716	0.501;0.946;0.946	T	0.24977	-1.0145	9	0.87932	D	0	.	19.4561	0.94889	0.0:0.0:1.0:0.0	.	4117;4186;4186	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4186;4186;906	ENSP00000334319:Q4186K;ENSP00000388393:Q4186K	ENSP00000334319:Q4186K	Q	-	1	0	PCLO	82382682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	2.596000	0.87737	0.460000	0.39030	CAA		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	98	4	98	---	---	---	---	T	82544746	G	T	82544746	3	4	133	1	0	0	0	0	1	0	0	0	11583	1299	45	3	2965	3	PCLO	7	82544746	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		82544746	76593917	17	6232										
AKAP9	10142	broad.mit.edu	37	chr7	91621525	91621525	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	aagcctacaaatttattaagGgtacagtatttaaaactact	5	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.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.(439-441)agG>agT		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			Somatic				AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S	p.R147S			WXS	Illumina GAIIx	Phase_I	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.441G>T		.	.	.	.	.	.	.	.	.	.	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	16	128	---	---	---	---	T	91621525	G	T	91621525	5	4	133	1	0	0	0	0	0	0	1	0	459	1246	43	1	419	1	AKAP9	7	91621525	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08	9076779	91621525	67517138	18	6233										
LHFPL3	375612	broad.mit.edu	37	chr7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-													0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	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_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000535008.1_Frame_Shift_Del_p.A207fs|LHFPL3-AS1_ENST00000449764.1_RNA			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)gcafs		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		Somatic				LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs	p.A207fs			WXS	Illumina GAIIx	Phase_I	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	133	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	19	6234										
CTTNBP2	83992	broad.mit.edu	37	chr7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	aatcagtggtgttattgcaaGtcacgtcttccagactccac	8	11	3	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.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		Somatic					p.T1036N	NM_033427.2	NP_219499.1	WXS	Illumina GAIIx	Phase_I	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	51	78	---	---	---	---	T	117400554	G	T	117400554	3	4	133	1	0	0	0	0	1	0	0	0	4045	1029	36	3	1940	3	CTTNBP2	7	117400554	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	13023257	117400554	41738109	20	6235										
NUDCD1	84955	broad.mit.edu	37	chr8	110308624	110308624	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	aaccctcacctcccatttttCagaagcgctatttccacgtt	4	15	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.chr8:110308624C>A	ENST00000239690.4	-	3	822	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121*|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											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)			TCCCATTTTTCAGAAGCGCTA	0.388																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(448-450)Gaa>Taa		NudC domain containing 1							210	203	205					8																	110308624		2203	4300	6503	SO:0001587	stop_gained	84955							g.chr8:110308624C>A	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.448G>T	8.37:g.110308624C>A	ENSP00000239690:p.Glu150*		Somatic				NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121*	p.E150*	NM_032869.3	NP_116258.2	WXS	Illumina GAIIx	Phase_I	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		3	822	-	all_neural(195;0.219)		150						Nonsense_Mutation	SNP	ENST00000239690.4	37	c.448G>T	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	39	7.886017	0.98542	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	.	.	.	5.84	5.84	0.93424	.	0.353403	0.31290	N	0.007916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.5933	19.1348	0.93422	0.0:1.0:0.0:0.0	.	.	.	.	X	150;121	.	ENSP00000239690:E150X	E	-	1	0	NUDCD1	110377800	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.762000	0.47597	2.779000	0.95612	0.591000	0.81541	GAA		0.388	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		4	118	4	118	---	---	---	---	A	110308624	C	A	110308624	4	1	133	1	0	0	0	0	0	1	0	0	10722	835	29	3	1335	3	NUDCD1	8	110308624	Nonsense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		110308624	36055398	21	6236										
FAM135B	51059	broad.mit.edu	37	chr8	139209802	139209802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gggatgtcccgcatgatcacCaggaagtggagacggagacc	15	10	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.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)	Somatic					p.L260L	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	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	14	69	---	---	---	---	T	139209802	C	T	139209802	2	4	133	1	0	0	0	0	0	0	0	1	5449	581	21	2		2	FAM135B	8	139209802	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	28901178	139209802	7154220	22	6237										
KIAA1797	54914	broad.mit.edu	37	chr9	20978420	20978420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gcagctgcactattgggcttGtgggtgacaccaccactgat	12	11	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.chr9:20978420G>C	ENST00000380249.1	+	39	4708	c.4344G>C	c.(4342-4344)ttG>ttC	p.L1448F	FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F	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		Somatic				FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F	p.L1448F	NM_017794.3	NP_060264.3	WXS	Illumina GAIIx	Phase_I	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	9	26	---	---	---	---	C	20978420	G	C	20978420	3	2	133	1	0	0	0	0	1	0	0	0	8258	1368	48	4	4486	4	KIAA1797	9	20978420	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		20978420	120235011	23	6238										
HRAS	3265	broad.mit.edu	37	chr11	533476	533476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ccgggtcttggccgaggtctCgatgtaggggatgccgtagc	17	10	2	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.chr11:533476C>T	ENST00000451590.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K|HRAS_ENST00000417302.1_Missense_Mutation_p.E143K|HRAS_ENST00000397596.2_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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	24	127	---	---	---	---	T	533476	C	T	533476	3	4	133	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	24	6239										
LRDD	55367	broad.mit.edu	37	chr11	803450	803450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	acccagacctcgcatctgcaGgacacaggccggcagtgtct	11	15	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.chr11:803450G>A	ENST00000347755.5	-	3	574	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	A	803450	G	A	803450	2	1	133	1	0	0	0	0	0	0	0	1	8936	991	35	2		2	LRDD	11	803450	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08	269974	803450	134203066	25	6240										
SLC22A9	114571	broad.mit.edu	37	chr11	63137867	63137867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	aacacaagtgacgcagacatGgagccctgtgtggatggctg	14	9	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.chr11:63137867G>T	ENST00000279178.3	+	1	588	c.339G>T	c.(337-339)atG>atT	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					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						ACGCAGACATGGAGCCCTGTG	0.522																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(337-339)atG>atT		solute carrier family 22 (organic anion transporter), member 9							126	105	112					11																	63137867		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137867G>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.339G>T	11.37:g.63137867G>T	ENSP00000279178:p.Met113Ile		Somatic				SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	p.M113I	NM_080866.2	NP_543142.2	WXS	Illumina GAIIx	Phase_I	Q8IVM8	S22A9_HUMAN			1	588	+			113					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.339G>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	g	4.591	0.109847	0.08780	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.62639	0.57;0.01	3.3	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.397771	0.26265	N	0.025364	T	0.31389	0.0795	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	10.4064	0.44260	0.7628:0.0:0.2372:0.0	.	113	Q8IVM8	S22A9_HUMAN	I	113	ENSP00000311527:M113I;ENSP00000279178:M113I	ENSP00000279178:M113I	M	+	3	0	SLC22A9	62894443	0.000000	0.05858	0.572000	0.28498	0.107000	0.19398	-3.863000	0.00347	-0.924000	0.03780	0.134000	0.15878	ATG		0.522	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		4	102	4	102	---	---	---	---	T	63137867	G	T	63137867	3	4	133	1	0	0	0	0	1	0	0	0	14461	1348	47	1	341	1	SLC22A9	11	63137867	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	62334417	63137867	71868649	26	6241										
SYT12	91683	broad.mit.edu	37	chr11	66812168	66812168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	aagaacctcatctggaccaaCgacaagaccacagcgggtaa	9	12	2	2	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			Somatic				SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N	p.N314N			WXS	Illumina GAIIx	Phase_I	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	26	67	---	---	---	---	T	66812168	C	T	66812168	2	4	133	1	0	0	0	0	0	0	0	1	15465	535	19	2		2	SYT12	11	66812168	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	3674301	66812168	68194348	27	6242										
TRPC6	7225	broad.mit.edu	37	chr11	101375336	101375336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	acagttaacgttgagtgagtGgcattcttctaacatcttcc	8	9	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.chr11:101375336G>T	ENST00000344327.3	-	2	788	c.364C>A	c.(364-366)Cac>Aac	p.H122N	TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N|TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	122					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)		TTGAGTGAGTGGCATTCTTCT	0.458																																					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.(364-366)Cac>Aac		transient receptor potential cation channel, subfamily C, member 6							156	137	144					11																	101375336		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.chr11:101375336G>T	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.364C>A	11.37:g.101375336G>T	ENSP00000340913:p.His122Asn		Somatic				TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N	p.H122N	NM_004621.5	NP_004612.2	WXS	Illumina GAIIx	Phase_I	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	788	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	122					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.364C>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036225	0.02029	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.96	1.83	0.25207	Ankyrin repeat-containing domain (4);	0.453672	0.25668	N	0.029088	T	0.37705	0.1013	N	0.13235	0.315	0.09310	N	1	B;B;B	0.13594	0.007;0.003;0.008	B;B;B	0.21360	0.012;0.03;0.034	T	0.13953	-1.0490	10	0.23891	T	0.37	-16.2984	5.2052	0.15287	0.12:0.316:0.4555:0.1086	.	122;122;122	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	N	122	ENSP00000340913:H122N;ENSP00000435574:H122N;ENSP00000343672:H122N;ENSP00000353687:H122N	ENSP00000340913:H122N	H	-	1	0	TRPC6	100880546	0.765000	0.28485	0.047000	0.18901	0.151000	0.21798	1.943000	0.40253	0.407000	0.25591	-0.882000	0.02950	CAC		0.458	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		4	116	4	116	---	---	---	---	T	101375336	G	T	101375336	3	4	133	1	0	0	0	0	1	0	0	0	16580	1348	47	1	2479	1	TRPC6	11	101375336	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	34563168	101375336	33631180	28	6243										
MAP3K12	7786	broad.mit.edu	37	chr12	53878999	53878999	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	atagcaccacgccaaaggacCtagggatgaggggacatcac	12	11	1	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.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547151.1_5'Flank|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	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			Somatic				MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site		NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	WXS	Illumina GAIIx	Phase_I	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	23	50	---	---	---	---	G	53878999	C	G	53878999	5	3	133	1	0	0	0	0	0	0	1	0	9246	695	24	4	1734	4	MAP3K12	12	53878999	Splice_Site	SNP	C	TCGA-G9-6361-01A-21D-1961-08		53878999	79972896	29	6244										
SHMT2	6472	broad.mit.edu	37	chr12	57626237	57626237	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tgtttgtgtgtctgtccagcCcaaaactggcctcattgact	9	11	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.chr12:57626237C>T	ENST00000328923.3	+	6	1048	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000393827.4_Missense_Mutation_p.P103L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR	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			Somatic				SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000328923.3_Splice_Site_p.P199L	p.P103L			WXS	Illumina GAIIx	Phase_I	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	43	105	---	---	---	---	T	57626237	C	T	57626237	5	4	133	1	0	0	0	0	0	0	1	0	14286	637	22	2	618	2	SHMT2	12	57626237	Splice_Site	SNP	C	TCGA-G9-6361-01A-21D-1961-08	3747238	57626237	76225658	30	6245										
PTPRB	5787	broad.mit.edu	37	chr12	70974869	70974869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	agatccctccactcactgttGttaccaccacggagtacagg	8	14	1	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.chr12:70974869G>T	ENST00000261266.5	-	8	1900	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K	PTPRB_ENST00000334414.6_Missense_Mutation_p.T842K|PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	624	Fibronectin type-III 7. {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)			ACTCACTGTTGTTACCACCAC	0.463																																						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.(2524-2526)aCa>aAa		protein tyrosine phosphatase, receptor type, B							109	111	110					12																	70974869		1953	4148	6101	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974869G>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.1871C>A	12.37:g.70974869G>T	ENSP00000261266:p.Thr624Lys		Somatic				PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000261266.5_Missense_Mutation_p.T624K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K	p.T842K	NM_001109754.2	NP_001103224.1	WXS	Illumina GAIIx	Phase_I	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)		10	2569	-	Renal(347;0.236)		624			Fibronectin type-III 10.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2525C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345641	0.82022	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	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	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095554	0.64402	D	0.000001	T	0.72518	0.3470	M	0.70275	2.135	0.80722	D	1	D;D;P;P;D;D;D	0.58620	0.957;0.957;0.933;0.928;0.979;0.983;0.957	P;P;D;P;P;D;P	0.64687	0.835;0.877;0.928;0.8;0.877;0.925;0.907	T	0.72757	-0.4197	10	0.62326	D	0.03	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	534;624;721;841;842;624;842	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	K	842;534;842;842;624;534;624;841;721	ENSP00000334928:T842K;ENSP00000393028:T534K;ENSP00000448058:T842K;ENSP00000438927:T624K;ENSP00000447302:T534K;ENSP00000261266:T624K;ENSP00000448349:T841K;ENSP00000446982:T721K	ENSP00000261266:T624K	T	-	2	0	PTPRB	69261136	1.000000	0.71417	0.492000	0.27490	0.363000	0.29612	9.007000	0.93597	2.781000	0.95711	0.650000	0.86243	ACA		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			4	137	4	137	---	---	---	---	T	70974869	G	T	70974869	3	4	133	1	0	0	0	0	1	0	0	0	12796	1377	48	3	4222	3	PTPRB	12	70974869	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	13348632	70974869	62877026	31	6246										
CLYBL	171425	broad.mit.edu	37	chr13	100518573	100518573	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	atagcgaaagcctttggtctCcaagccatagatctggtgta	10	9	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.chr13:100518573C>A	ENST00000376360.1	+	6	741	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376355.3_Silent_p.L204L|CLYBL_ENST00000339105.4_Silent_p.L238L|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			Somatic				CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L	p.L204L	NM_206808.2	NP_996531.1	WXS	Illumina GAIIx	Phase_I	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	28	62	---	---	---	---	A	100518573	C	A	100518573	2	1	133	1	0	0	0	0	0	0	0	1	3573	842	30	3		3	CLYBL	13	100518573	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08		100518573	14651305	32	6247										
LOXL1	4016	broad.mit.edu	37	chr15	74219535	74219535	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gtggccgtcggggacagcacGggcatggcccgggcccgcac	18	15	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_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000562130.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000567644.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000568229.1_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			Somatic				LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA	p.T137T	NM_005576.2	NP_005567.2	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	C	74219535	G	C	74219535	2	2	133	1	0	0	0	0	0	0	0	1	8899	1103	39	4		4	LOXL1	15	74219535	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08		74219535	28311857	33	6248										
KIAA1199	57214	broad.mit.edu	37	chr15	81221373	81221373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tctacagtggtggaaccttcCcgtatgacgacggctccaag	11	12	1	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.chr15:81221373C>A	ENST00000394685.3	+	21	2889	c.2470C>A	c.(2470-2472)Ccg>Acg	p.P824T	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T			Q8WUJ3	CEMIP_HUMAN		824					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						TGGAACCTTCCCGTATGACGA	0.517																																						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.(2470-2472)Ccg>Acg		KIAA1199							133	123	126					15																	81221373		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81221373C>A																												ENST00000394685.3:c.2470C>A	15.37:g.81221373C>A	ENSP00000378177:p.Pro824Thr		Somatic				KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T	p.P824T			WXS	Illumina GAIIx	Phase_I	Q8WUJ3	K1199_HUMAN			21	2889	+			824					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2470C>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134172	0.56828	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.72942	-0.7;-0.7;-0.7	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	M	0.79805	2.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84819	0.0795	10	0.41790	T	0.15	-23.8256	18.2156	0.89884	0.0:1.0:0.0:0.0	.	824	Q8WUJ3	K1199_HUMAN	T	824	ENSP00000220244:P824T;ENSP00000378177:P824T;ENSP00000348583:P824T	ENSP00000220244:P824T	P	+	1	0	KIAA1199	79008428	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	6.923000	0.75817	2.518000	0.84900	0.655000	0.94253	CCG		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			4	71	4	71	---	---	---	---	A	81221373	C	A	81221373	3	1	133	1	0	0	0	0	1	0	0	0	8213	623	22	1	2544	1	KIAA1199	15	81221373	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	7001838	81221373	21310019	34	6249										
ADCY7	113	broad.mit.edu	37	chr16	50327346	50327346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tcgaacggctcaaggagcatGgtgaccgtcgctgcatgcct	13	12	1	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.chr16:50327346G>T	ENST00000394697.2	+	6	1109	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C|ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C			P51828	ADCY7_HUMAN	adenylate cyclase 7	257					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|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)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CAAGGAGCATGGTGACCGTCG	0.582																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(769-771)Ggt>Tgt		adenylate cyclase 7	Bromocriptine(DB01200)						139	109	119					16																	50327346		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50327346G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.769G>T	16.37:g.50327346G>T	ENSP00000378187:p.Gly257Cys		Somatic				ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C	p.G257C			WXS	Illumina GAIIx	Phase_I	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	6	1109	+		all_cancers(37;0.0127)	257					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.769G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288137	0.40494	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81739	-1.01;-1.53;-1.04;-1.53	5.18	-3.13	0.05266	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.914272	0.09026	U	0.859396	T	0.77039	0.4072	L	0.28274	0.84	0.24484	N	0.994332	B;D	0.57571	0.003;0.98	B;P	0.61003	0.004;0.882	T	0.67063	-0.5765	10	0.52906	T	0.07	.	5.9544	0.19265	0.5533:0.2839:0.1628:0.0	.	257;257	P51828;F5H4D1	ADCY7_HUMAN;.	C	257	ENSP00000445046:G257C;ENSP00000378187:G257C;ENSP00000437788:G257C;ENSP00000254235:G257C	ENSP00000254235:G257C	G	+	1	0	ADCY7	48884847	0.884000	0.30299	0.016000	0.15963	0.189000	0.23516	1.966000	0.40481	-0.331000	0.08501	-0.140000	0.14226	GGT		0.582	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			5	107	5	107	---	---	---	---	T	50327346	G	T	50327346	3	4	133	1	0	0	0	0	1	0	0	0	299	1348	47	1	787	1	ADCY7	16	50327346	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		50327346	40027407	35	6250										
CDK5RAP3	80279	broad.mit.edu	37	chr17	46048774	46048774	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ccagaccagcaagctgctcgGtaggagggggcgccaccgcg	16	14	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.chr17:46048774G>T	ENST00000338399.4	+	2	158		c.e2+1		CDK5RAP3_ENST00000536708.2_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	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			Somatic				CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA		NM_001278197.1	NP_001265126.1	WXS	Illumina GAIIx	Phase_I	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	8	17	---	---	---	---	T	46048774	G	T	46048774	5	4	133	1	0	0	0	0	0	0	1	0	3147	1275	44	3	59	3	CDK5RAP3	17	46048774	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08		46048774	35146436	36	6251										
QTRT1	81890	broad.mit.edu	37	chr19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	ccgctccccctacgacggcaAtgagaccctgctgagcccgg	11	18	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.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		Somatic				QTRT1_ENST00000585885.1_3'UTR	p.N134S	NM_031209.2	NP_112486.1	WXS	Illumina GAIIx	Phase_I	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	25	58	---	---	---	---	G	10812880	A	G	10812880	3	3	133	1	0	0	0	0	1	0	0	0	12885	101	4	2	411	2	QTRT1	19	10812880	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08		10812880	48316103	37	6252										
SIPA1L3	23094	broad.mit.edu	37	chr19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	gccacgatgggacgtccagcGgcgactcctcttccggcggc	14	16	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.chr19:38643547G>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		Somatic					p.G1201S	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	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	6	119	---	---	---	---	A	38643547	G	A	38643547	3	1	133	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	38	6253										
LUZP4	51213	broad.mit.edu	37	chrX	114541233	114541233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0256410256410256	1	1	0.495575221238938	1.48672566371681	0	1	1	0	tcagagagatctcatagccaCtcagagagatctcatagtca	8	10	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.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		Somatic				LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	p.T269I	NM_016383.3	NP_057467.1	WXS	Illumina GAIIx	Phase_I	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	49	21	---	---	---	---	T	114541233	C	T	114541233	3	4	133	1	0	0	0	0	1	0	0	0	9088	565	20	2	820	2	LUZP4	23	114541233	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		114541233	40729327	39	6254										
C1orf84	23334	broad.mit.edu	37	chr1	43868961	43868961	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	caaactgtgcaggccacaccCcaggagatgctggtgaggct	13	12	0	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.chr1:43868961C>A	ENST00000562955.1	+	2	141	c.141C>A	c.(139-141)ccC>ccA	p.P47P	SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	47					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						AGGCCACACCCCAGGAGATGC	0.517																																						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.(139-141)ccC>ccA		seizure threshold 2 homolog (mouse)							66	62	63					1																	43868961		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43868961C>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.141C>A	1.37:g.43868961C>A			Somatic				SZT2_ENST00000372450.4_Silent_p.P47P|SZT2_ENST00000310739.4_Silent_p.P47P	p.P47P	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			2	141	+			47					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.141C>A	CCDS30694.2																																																																																				0.517	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	53	4	53	---	---	---	---	A	43868961	C	A	43868961	2	1	134	1	0	0	0	0	0	0	0	1	2061	610	22	1		1	C1orf84	1	43868961	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08		43868961	205381660	1	6255										
ZSWIM5	57643	broad.mit.edu	37	chr1	45501859	45501859	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ggcattaacctctgttgaccCaggcccatcagtgcaacttc	8	14	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.chr1:45501859C>A	ENST00000359600.5	-	9	2212	c.2007G>T	c.(2005-2007)ctG>ctT	p.L669L	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	669						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)					TCTGTTGACCCAGGCCCATCA	0.577																																						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.(2005-2007)ctG>ctT		zinc finger, SWIM-type containing 5							75	72	73					1																	45501859		2015	4173	6188	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45501859C>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.2007G>T	1.37:g.45501859C>A			Somatic					p.L669L	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			9	2212	-	Acute lymphoblastic leukemia(166;0.155)		669					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2007G>T	CCDS41319.1																																																																																				0.577	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		4	75	4	75	---	---	---	---	A	45501859	C	A	45501859	2	1	134	1	0	0	0	0	0	0	0	1	18241	581	21	1		1	ZSWIM5	1	45501859	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	1632898	45501859	203748762	2	6256										
MAST2	23139	broad.mit.edu	37	chr1	46493409	46493409	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cttcgttcttccagcctcctAattacatccatggggcacat	6	14	1	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.chr1:46493409A>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			Somatic				MAST2_ENST00000372009.2_Silent_p.L572L	p.L642L	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	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	29	69	---	---	---	---	T	46493409	A	T	46493409	2	4	134	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	991550	46493409	202757212	3	6257										
JAK1	3716	broad.mit.edu	37	chr1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cagcatttcctcataagttgAtaaacctgtaaaaagaaaga	6	7	1	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.chr1:65300335A>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*		Somatic					p.Y1125*	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	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	3	66	---	---	---	---	C	65300335	A	C	65300335	4	2	134	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	4	6258										
JAK1	3716	broad.mit.edu	37	chr1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cagacgtcagaggcaatataAaatttagattgcattaaaca	7	6	1	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.chr1:65301865A>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		Somatic					p.F1058L	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	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	3	35	---	---	---	---	C	65301865	A	C	65301865	3	2	134	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	5	6259										
FMO1	2326	broad.mit.edu	37	chr1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gctacccatgggacatggtgTtcatgacacgctttcagaac	10	11	2	2	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_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L	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		Somatic				FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L	p.F235L	NM_001282692.1	NP_001269621.1	WXS	Illumina GAIIx	Phase_I	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	18	61	---	---	---	---	C	171250000	T	C	171250000	3	2	134	1	0	0	0	0	1	0	0	0	5954	1725	60	2	721	2	FMO1	1	171250000	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	105948135	171250000	78000621	6	6260										
FCAMR	83953	broad.mit.edu	37	chr1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	aggtcctccttctccagagcTtcctttgcaatagaaccaga	7	13	1	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.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|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		Somatic				FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR	p.K518R	NM_001170631.1	NP_001164102.1	WXS	Illumina GAIIx	Phase_I	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	37	151	---	---	---	---	C	207133044	T	C	207133044	3	2	134	1	0	0	0	0	1	0	0	0	5772	1609	56	2	188	2	FCAMR	1	207133044	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	35883044	207133044	42117577	7	6261										
JMJD4	65094	broad.mit.edu	37	chr1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	agtggtaaaactcttcaaagTtgatgcccgagcaggacctc	10	10	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.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR	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		Somatic				JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron	p.N379T	NM_023007.2	NP_075383.2	WXS	Illumina GAIIx	Phase_I	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	8	36	---	---	---	---	G	227920349	T	G	227920349	3	3	134	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	8	6262										
AHCTF1	25909	broad.mit.edu	37	chr1	247014376	247014376	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gacttttggtcactagttacGgcagatggcaaatttgcaat	10	7	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.chr1:247014376G>C	ENST00000391829.2	-	33	5055	c.4932C>G	c.(4930-4932)gcC>gcG	p.A1644A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.A1679A			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			Somatic				AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A	p.A1679A			WXS	Illumina GAIIx	Phase_I	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	7	164	---	---	---	---	C	247014376	G	C	247014376	2	2	134	1	0	0	0	0	0	0	0	1	408	1103	39	4		4	AHCTF1	1	247014376	Silent	SNP	G	TCGA-G9-6363-01A-21D-1786-08	19094027	247014376	2236245	9	6263										
TTN	7273	broad.mit.edu	37	chr2	179537132	179537132	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tccaggatctttccaaaaatAcctttagctgggggaacagc	9	10	1	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.chr2:179537132A>G	ENST00000591111.1	-	150	34033		c.e150+1		TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_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			Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site		NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	10	264	---	---	---	---	G	179537132	A	G	179537132	5	3	134	1	0	0	0	0	0	0	1	0	16732	405	14	2	69612	2	TTN	2	179537132	Splice_Site	SNP	A	TCGA-G9-6363-01A-21D-1786-08		179537132	63662241	10	6264										
XRCC5	7520	broad.mit.edu	37	chr2	216986819	216986819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ttggcaaggaagatggaagtGgggacagaggagatggcccc	18	6	0	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.chr2:216986819G>T	ENST00000392133.3	+	8	987	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	176					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|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)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGATGGAAGTGGGGACAGAGG	0.438								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(526-528)Ggg>Tgg	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							95	83	87					2																	216986819		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216986819G>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.526G>T	2.37:g.216986819G>T	ENSP00000375978:p.Gly176Trp		Somatic				XRCC5_ENST00000392132.2_Missense_Mutation_p.G176W	p.G176W			WXS	Illumina GAIIx	Phase_I	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	8	987	+		Renal(323;0.0328)	176					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.526G>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404474	0.42613	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31247	1.5;1.5	5.09	4.21	0.49690	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.76002	2.32	0.51482	D	0.999923	D	0.76494	0.999	D	0.81914	0.995	T	0.57745	-0.7758	10	0.54805	T	0.06	.	13.097	0.59197	0.0769:0.0:0.9231:0.0	.	176	P13010	XRCC5_HUMAN	W	176	ENSP00000375978:G176W;ENSP00000375977:G176W	ENSP00000375977:G176W	G	+	1	0	XRCC5	216695064	1.000000	0.71417	0.990000	0.47175	0.047000	0.14425	3.491000	0.53252	1.532000	0.49169	-0.142000	0.14014	GGG		0.438	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	59	4	59	---	---	---	---	T	216986819	G	T	216986819	3	4	134	1	0	0	0	0	1	0	0	0	17453	1348	47	1	548	1	XRCC5	2	216986819	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	37449687	216986819	26212554	11	6265										
ANKRD28	23243	broad.mit.edu	37	chr3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gcaatgagtaaacacagtctGtgtgcccgttgagaacagat	11	8	1	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.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R	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		Somatic				ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	p.T666R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	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	4	22	---	---	---	---	C	15727591	G	C	15727591	3	2	134	1	0	0	0	0	1	0	0	0	656	1377	48	4	1200	4	ANKRD28	3	15727591	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		15727591	182294839	12	6266										
OR5H14	403273	broad.mit.edu	37	chr3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-													0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	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)gctfs		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		Somatic					p.A67fs	NM_001005514.1	NP_001005514.1	WXS	Illumina GAIIx	Phase_I	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	134	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	6267										
PARP14	54625	broad.mit.edu	37	chr3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	aaaaaatgatcatttctccaGgcaggtattttcttttgtgt	7	6	3	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.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		Somatic					p.G476S	NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	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	10	58	---	---	---	---	A	122418827	G	A	122418827	3	1	134	1	0	0	0	0	1	0	0	0	11458	1000	35	2	1448	2	PARP14	3	122418827	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	24550398	122418827	75603603	14	6268										
TBCK	93627	broad.mit.edu	37	chr4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tacagtacctcacaggtttcCtttctcgaagcaagtcttcc	6	13	3	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.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_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_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																																						ENST00000273980.5																			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		Somatic				TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T|TBCK_ENST00000394706.3_Missense_Mutation_p.R85T	p.R85T			WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			4	701	-						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	36	137	---	---	---	---	G	107216263	C	G	107216263	3	3	134	1	0	0	0	0	1	0	0	0	15633	681	24	4	2523	4	TBCK	4	107216263	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		107216263	83938013	15	6269										
BBS12	166379	broad.mit.edu	37	chr4	123663744	123663744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gcagacagtcaatactaatcCacagtaggcattttaatagg	8	8	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.chr4:123663744C>A	ENST00000314218.3	+	2	890	c.697C>A	c.(697-699)Cac>Aac	p.H233N	BBS12_ENST00000542236.1_Missense_Mutation_p.H233N	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	233					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)	p.H233N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATACTAATCCACAGTAGGCA	0.388									Bardet-Biedl syndrome																													ENST00000542236.1																			1	Substitution - Missense(1)	p.H233N(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(697-699)Cac>Aac		Bardet-Biedl syndrome 12							86	87	87					4																	123663744		2203	4300	6503	SO:0001583	missense	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.chr4:123663744C>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.697C>A	4.37:g.123663744C>A	ENSP00000319062:p.His233Asn		Somatic				BBS12_ENST00000314218.3_Missense_Mutation_p.H233N	p.H233N	NM_001178007.1	NP_001171478.1	WXS	Illumina GAIIx	Phase_I	Q6ZW61	BBS12_HUMAN			3	1078	+			233					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.697C>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136641	0.56936	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.81996	-1.56;-1.56	5.2	5.2	0.72013	.	0.063315	0.64402	D	0.000009	D	0.86797	0.6019	L	0.34521	1.04	0.50632	D	0.999884	D	0.76494	0.999	D	0.66084	0.941	D	0.88151	0.2851	10	0.72032	D	0.01	-9.732	19.1348	0.93422	0.0:1.0:0.0:0.0	.	233	Q6ZW61	BBS12_HUMAN	N	233	ENSP00000319062:H233N;ENSP00000438273:H233N	ENSP00000319062:H233N	H	+	1	0	BBS12	123883194	0.994000	0.37717	0.980000	0.43619	0.365000	0.29674	3.441000	0.52893	2.588000	0.87417	0.650000	0.86243	CAC		0.388	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		4	64	4	64	---	---	---	---	A	123663744	C	A	123663744	3	1	134	1	0	0	0	0	1	0	0	0	1337	594	21	1	699	1	BBS12	4	123663744	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	16447481	123663744	67490532	16	6270										
WWC2	80014	broad.mit.edu	37	chr4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ccctcagttccaccgaactcTattacagcagtcaaagtgat	6	13	3	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.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_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H	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		Somatic				WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	p.Y470H	NM_024949.5	NP_079225.5	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	C	184182184	T	C	184182184	3	2	134	1	0	0	0	0	1	0	0	0	17409	1522	53	2	1450	2	WWC2	4	184182184	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	60518440	184182184	6972092	17	6271										
ARHGAP26	23092	broad.mit.edu	37	chr5	142513614	142513614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gagcagtgactccaagccccCgtcctgcagcgagaggcccc	12	17	0	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.chr5:142513614C>A	ENST00000274498.4	+	19	2159	c.1781C>A	c.(1780-1782)cCg>cAg	p.P594Q	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.P594Q	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	594	Ser-rich.				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)			TCCAAGCCCCCGTCCTGCAGC	0.557																																						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.(1780-1782)cCg>cAg		Rho GTPase activating protein 26							140	124	129					5																	142513614		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.chr5:142513614C>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.1781C>A	5.37:g.142513614C>A	ENSP00000274498:p.Pro594Gln		Somatic				ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P594Q	p.P594Q	NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2136	+		all_hematologic(541;0.0416)	594			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1781C>A	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.873483|4.873483	0.91664|0.91664	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.09073|.	3.02;3.12|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60366|0.60366	0.2263|0.2263	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;P|.	0.44690|.	0.47;0.841;0.605|.	B;B;B|.	0.40101|.	0.211;0.319;0.266|.	T|T	0.52087|0.52087	-0.8622|-0.8622	10|5	0.30854|.	T|.	0.27|.	.|.	19.1569|19.1569	0.93514|0.93514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	594;167;594|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	Q|S	594;594;167|213;166	ENSP00000274498:P594Q;ENSP00000367243:P594Q|.	ENSP00000274498:P594Q|.	P|R	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142493807|142493807	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.999000|0.999000	0.98932|0.98932	5.607000|5.607000	0.67648|0.67648	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.557	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		5	172	5	172	---	---	---	---	A	142513614	C	A	142513614	3	1	134	1	0	0	0	0	1	0	0	0	875	652	23	1	1855	1	ARHGAP26	5	142513614	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		142513614	38401646	18	6272										
RBM27	54439	broad.mit.edu	37	chr5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cgattcattcgagtcttgtgGcatagggaaaataatgagca	11	6	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.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*		Somatic				RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	p.W671*	NM_018989.1	NP_061862.1	WXS	Illumina GAIIx	Phase_I	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	5	158	---	---	---	---	A	145641192	G	A	145641192	4	1	134	1	0	0	0	0	0	1	0	0	13127	1212	42	2	2063	2	RBM27	5	145641192	Nonsense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	3127578	145641192	35274068	19	6273										
CPEB4	80315	broad.mit.edu	37	chr5	173317603	173317603	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tctccgtggagcagctaccaGagtccgtcaccaacaccctc	8	17	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.chr5:173317603G>T	ENST00000265085.5	+	1	2321	c.867G>T	c.(865-867)caG>caT	p.Q289H	CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	289					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)	p.Q289H(1)		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)			GCAGCTACCAGAGTCCGTCAC	0.577																																						ENST00000265085.5																			1	Substitution - Missense(1)	p.Q289H(1)	prostate(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(865-867)caG>caT		cytoplasmic polyadenylation element binding protein 4							150	163	158					5																	173317603		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317603G>T	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.867G>T	5.37:g.173317603G>T	ENSP00000265085:p.Gln289His		Somatic				CPEB4_ENST00000334035.5_Missense_Mutation_p.Q289H|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q289H|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q289H	p.Q289H	NM_030627.2	NP_085130.2	WXS	Illumina GAIIx	Phase_I	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2321	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	289					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.867G>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316047	0.40996	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.33	4.34	0.51931	.	0.049060	0.85682	D	0.000000	T	0.53334	0.1790	M	0.65498	2.005	0.80722	D	1	B;D;D;B	0.58970	0.005;0.98;0.984;0.001	B;P;P;B	0.53593	0.004;0.632;0.73;0.002	T	0.57917	-0.7728	10	0.87932	D	0	-10.246	6.2081	0.20613	0.2729:0.0:0.7271:0.0	.	289;289;289;289	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	H	289	ENSP00000265085:Q289H;ENSP00000429092:Q289H;ENSP00000334533:Q289H;ENSP00000429048:Q289H	ENSP00000265085:Q289H	Q	+	3	2	CPEB4	173250209	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.524000	0.53495	2.496000	0.84212	0.557000	0.71058	CAG		0.577	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		7	227	7	227	---	---	---	---	T	173317603	G	T	173317603	3	4	134	1	0	0	0	0	1	0	0	0	3803	933	33	3	869	3	CPEB4	5	173317603	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	27676411	173317603	7597657	20	6274										
HIST1H3G	8355	broad.mit.edu	37	chr6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gctcagtcgacttctgatagCggcgaatctcgcgcagagcc	12	13	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.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		Somatic					p.R54H	NM_003534.2	NP_003525.1	WXS	Illumina GAIIx	Phase_I	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	7	105	---	---	---	---	T	26271452	C	T	26271452	3	4	134	1	0	0	0	0	1	0	0	0	7161	768	27	2	253	2	HIST1H3G	6	26271452	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		26271452	144843615	21	6275										
COL11A2	1302	broad.mit.edu	37	chr6	33139307	33139307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ccaggaagccccacaggaccCtgcactccatctcggccagt	9	18	1	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.chr6:33139307C>A	ENST00000374708.4	-	41	3195	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	COL11A2_ENST00000341947.2_Missense_Mutation_p.Q1065H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1065	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						CCACAGGACCCTGCACTCCAT	0.632																																					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.(3193-3195)caG>caT		collagen, type XI, alpha 2							36	38	37					6																	33139307		2203	4300	6503	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.chr6:33139307C>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.2937G>T	6.37:g.33139307C>A	ENSP00000363840:p.Gln979His		Somatic				COL11A2_ENST00000374712.1_Missense_Mutation_p.Q984H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q1044H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q958H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q979H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q1039H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Q1005H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q1018H	p.Q1065H	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			43	3422	-			1065			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3195G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806305	0.31961	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.23;-3.24;-3.23	3.79	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.72576	2.205	0.53688	D	0.999979	D;D;D	0.67145	0.994;0.994;0.996	D;D;D	0.79108	0.953;0.969;0.992	D	0.92204	0.5770	10	0.49607	T	0.09	.	4.4167	0.11459	0.0:0.7268:0.0:0.2732	.	958;979;1065	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	H	979;1065;1044;1039;1018;1005;984;958	ENSP00000363840:Q979H;ENSP00000339915:Q1065H;ENSP00000350079:Q1044H;ENSP00000363846:Q1039H;ENSP00000363845:Q1018H;ENSP00000378623:Q1005H;ENSP00000363844:Q984H;ENSP00000355123:Q958H	ENSP00000339915:Q1065H	Q	-	3	2	COL11A2	33247285	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	0.746000	0.26275	1.945000	0.56424	0.297000	0.19635	CAG		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	61	4	61	---	---	---	---	A	33139307	C	A	33139307	3	1	134	1	0	0	0	0	1	0	0	0	3668	680	24	1	2111	1	COL11A2	6	33139307	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	6867855	33139307	137975760	22	6276										
SLC26A8	116369	broad.mit.edu	37	chr6	35927567	35927567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	agcactggaagattttcaccCcaggaatggtgatgatctgc	11	9	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.chr6:35927567C>A	ENST00000490799.1	-	15	2008	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V	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						GATTTTCACCCCAGGAATGGT	0.383																																						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.(1654-1656)gGg>gTg		solute carrier family 26 (anion exchanger), member 8							98	97	97					6																	35927567		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.chr6:35927567C>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.1655G>T	6.37:g.35927567C>A	ENSP00000417638:p.Gly552Val		Somatic				SLC26A8_ENST00000355574.2_Missense_Mutation_p.G552V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.G447V	p.G552V	NM_052961.3	NP_443193.1	WXS	Illumina GAIIx	Phase_I	Q96RN1	S26A8_HUMAN			15	2008	-			552			STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.1655G>T	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858298	0.71834	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95069	-3.6;-3.6;-3.6	5.82	5.82	0.92795	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.64402	D	0.000002	D	0.96065	0.8718	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96332	0.9244	10	0.87932	D	0	.	15.6535	0.77115	0.0:1.0:0.0:0.0	.	552;447;134	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	552;447;552	ENSP00000417638:G552V;ENSP00000378100:G447V;ENSP00000347778:G552V	ENSP00000347778:G552V	G	-	2	0	SLC26A8	36035545	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.300000	0.59079	2.764000	0.94973	0.650000	0.86243	GGG		0.383	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			6	112	6	112	---	---	---	---	A	35927567	C	A	35927567	3	1	134	1	0	0	0	0	1	0	0	0	14523	623	22	1	1281	1	SLC26A8	6	35927567	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	2788260	35927567	135187500	23	6277										
BAI3	577	broad.mit.edu	37	chr6	69758171	69758171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	atggttgactgggcaagaaaCtcagaagatagggtagtaat	13	4	1	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			Somatic					p.N734N	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	9	52	---	---	---	---	T	69758171	C	T	69758171	2	4	134	1	0	0	0	0	0	0	0	1	1300	564	20	2		2	BAI3	6	69758171	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	33830604	69758171	101356896	24	6278										
PPIL4	85313	broad.mit.edu	37	chr6	149826610	149826610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	catctatacttagatttttcTttatctttggacttctttgg	5	7	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.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			Somatic				PPIL4_ENST00000253329.2_Silent_p.K486K	p.K119R			WXS	Illumina GAIIx	Phase_I	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	14	95	---	---	---	---	C	149826610	T	C	149826610	2	2	134	1	0	0	0	0	0	0	0	1	12329	1606	56	2		2	PPIL4	6	149826610	Silent	SNP	T	TCGA-G9-6363-01A-21D-1786-08	80068439	149826610	21288457	25	6279										
CLDN12	9069	broad.mit.edu	37	chr7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	acagccctattcagcacgctCtcgcctctctgccattgaaa	6	16	3	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.chr7:90042673C>T	ENST00000287916.4	+	3	970	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_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		Somatic				CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA	p.S228F	NM_001185072.2	NP_001172001.1	WXS	Illumina GAIIx	Phase_I	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	40	145	---	---	---	---	T	90042673	C	T	90042673	3	4	134	1	0	0	0	0	1	0	0	0	3474	913	32	2	685	2	CLDN12	7	90042673	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		90042673	69095990	26	6280										
MTUS1	57509	broad.mit.edu	37	chr8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-													0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	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_ENST00000381869.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_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)ccacct>cct		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		Somatic				MTUS1_ENST00000262102.6_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P	p.34_35PP>P	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	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	134	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	27	6281										
PHF20L1	51105	broad.mit.edu	37	chr8	133844506	133844506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cagactatgaagacagttccCtcgaatttttggaaaggtgc	10	8	0	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.chr8:133844506C>A	ENST00000395386.2	+	15	2070	c.1771C>A	c.(1771-1773)Ctc>Atc	p.L591I	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	591							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			AGACAGTTCCCTCGAATTTTT	0.363																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1771-1773)Ctc>Atc		PHD finger protein 20-like 1							182	172	175					8																	133844506		1838	4083	5921	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133844506C>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1771C>A	8.37:g.133844506C>A	ENSP00000378784:p.Leu591Ile		Somatic				PHF20L1_ENST00000395390.2_Missense_Mutation_p.L566I|PHF20L1_ENST00000220847.7_5'UTR	p.L591I	NM_016018.4	NP_057102.4	WXS	Illumina GAIIx	Phase_I	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		15	2070	+	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)		591					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1771C>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370843	0.42003	.	.	ENSG00000129292	ENST00000395386;ENST00000395390	T;T	0.32272	1.46;1.46	5.56	3.69	0.42338	.	0.407958	0.28230	N	0.016120	T	0.19087	0.0458	L	0.44542	1.39	0.80722	D	1	B;B	0.28291	0.206;0.131	B;B	0.24541	0.054;0.035	T	0.09707	-1.0662	10	0.21540	T	0.41	-10.6165	2.1594	0.03821	0.1447:0.5104:0.16:0.1849	.	566;591	F8W9L8;A8MW92	.;P20L1_HUMAN	I	591;566	ENSP00000378784:L591I;ENSP00000378788:L566I	ENSP00000378784:L591I	L	+	1	0	PHF20L1	133913688	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.187000	0.16998	0.748000	0.32831	0.650000	0.86243	CTC		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		6	165	6	165	---	---	---	---	A	133844506	C	A	133844506	3	1	134	1	0	0	0	0	1	0	0	0	11832	681	24	1	1921	1	PHF20L1	8	133844506	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	116231293	133844506	12519516	28	6282										
KLF4	9314	broad.mit.edu	37	chr9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tgtgccttgagatgggaactCtttgtgtaggttttgccgca	13	7	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.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		Somatic					p.K409N	NM_004235.4	NP_004226.3	WXS	Illumina GAIIx	Phase_I	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	12	192	---	---	---	---	G	110249346	C	G	110249346	3	3	134	1	0	0	0	0	1	0	0	0	8348	912	32	4	220	4	KLF4	9	110249346	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		110249346	30964085	29	6283										
AGPAT2	10555	broad.mit.edu	37	chr9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cggcggacaccgtgaagcacAgcgcgcagtacagggcgacc	15	14	0	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		Somatic				AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	p.L36Q	NM_006412.3	NP_006403.2	WXS	Illumina GAIIx	Phase_I	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	5	34	---	---	---	---	T	139581703	A	T	139581703	3	4	134	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	30	6284										
ZNF33A	7581	broad.mit.edu	37	chr10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gaaatttccagccacaagtcAgcctccataatgcctcagag	7	13	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.chr10:38345420A>T	ENST00000458705.2	+	5	2523	c.2365A>T	c.(2365-2367)Agc>Tgc	p.S789C	ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000374618.3_Missense_Mutation_p.S790C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|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		Somatic				ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C	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	WXS	Illumina GAIIx	Phase_I	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	16	59	---	---	---	---	T	38345420	A	T	38345420	3	4	134	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	31	6285										
KIAA0652	9776	broad.mit.edu	37	chr11	46671807	46671807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gtcccttcttgctataactaGggtgacaccagcctataggc	9	12	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.chr11:46671807G>T	ENST00000434074.1	+	6	1087	c.398G>T	c.(397-399)aGg>aTg	p.R133M	ATG13_ENST00000451945.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	133					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						GCTATAACTAGGGTGACACCA	0.428																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(397-399)aGg>aTg		autophagy related 13							135	126	129					11																	46671807		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671807G>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.398G>T	11.37:g.46671807G>T	ENSP00000400642:p.Arg133Met		Somatic				ATG13_ENST00000529655.1_Missense_Mutation_p.R133M|ATG13_ENST00000312040.4_Missense_Mutation_p.R133M|ATG13_ENST00000526508.1_Missense_Mutation_p.R133M|ATG13_ENST00000530500.1_Missense_Mutation_p.R54M|ATG13_ENST00000524625.1_Missense_Mutation_p.R133M|ATG13_ENST00000528494.1_Missense_Mutation_p.R133M|ATG13_ENST00000359513.4_Missense_Mutation_p.R133M|ATG13_ENST00000451945.1_Missense_Mutation_p.R133M	p.R133M	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	O75143	ATG13_HUMAN			6	1087	+			133					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.398G>T	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356647	0.82243	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.65	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.78344	2.41	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	T	0.82224	-0.0563	9	0.87932	D	0	-28.9799	14.5574	0.68109	0.0701:0.0:0.9299:0.0	.	54;133;133;133	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	M	133;133;133;133;133;54;133;133;133;133;133	.	ENSP00000310321:R133M	R	+	2	0	ATG13	46628383	1.000000	0.71417	0.925000	0.36789	0.931000	0.56810	9.827000	0.99397	1.402000	0.46780	-0.136000	0.14681	AGG		0.428	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		6	78	6	78	---	---	---	---	T	46671807	G	T	46671807	3	4	134	1	0	0	0	0	1	0	0	0	8188	1000	35	1	416	1	KIAA0652	11	46671807	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		46671807	88334709	32	6286										
KDM2A	22992	broad.mit.edu	37	chr11	66982827	66982827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	aaaggtggatttcattgactGggtagacaacatgtggccaa	12	6	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.chr11:66982827G>T	ENST00000529006.2	+	7	949	c.503G>T	c.(502-504)tGg>tTg	p.W168L	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	168	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						TTCATTGACTGGGTAGACAAC	0.418																																						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.(502-504)tGg>tTg		lysine (K)-specific demethylase 2A							89	83	85					11																	66982827		1910	4115	6025	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.chr11:66982827G>T	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.503G>T	11.37:g.66982827G>T	ENSP00000432786:p.Trp168Leu		Somatic				KDM2A_ENST00000398645.2_Missense_Mutation_p.W168L|KDM2A_ENST00000526258.1_3'UTR	p.W168L	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			7	949	+			168			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.503G>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212776	0.95069	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.70045	-0.45;-0.45	5.76	5.76	0.90799	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.70809	-0.4771	10	0.23891	T	0.37	-16.3968	18.9478	0.92628	0.0:0.0:1.0:0.0	.	168	Q9Y2K7	KDM2A_HUMAN	L	168	ENSP00000381640:W168L;ENSP00000432786:W168L	ENSP00000381640:W168L	W	+	2	0	KDM2A	66739403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.848000	0.99507	2.726000	0.93360	0.655000	0.94253	TGG		0.418	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		4	49	4	49	---	---	---	---	T	66982827	G	T	66982827	3	4	134	1	0	0	0	0	1	0	0	0	8124	1357	47	1	525	1	KDM2A	11	66982827	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	20311020	66982827	68023689	33	6287										
SYTL2	54843	broad.mit.edu	37	chr11	85459457	85459457	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tggtcatccttaattttttcAggcaaatgtctacaaaagga	7	7	3	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.chr11:85459457A>T	ENST00000528231.1	-	2	388	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000316356.4_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P	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			Somatic				SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P	p.P37P			WXS	Illumina GAIIx	Phase_I	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	5	78	---	---	---	---	T	85459457	A	T	85459457	2	4	134	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	18476630	85459457	49547059	34	6288										
ARHGAP32	9743	broad.mit.edu	37	chr11	128839002	128839002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	atcttccaggttatcatactGggacacaacagtcacactgc	7	12	3	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.chr11:128839002G>T	ENST00000310343.9	-	22	6063	c.6064C>A	c.(6064-6066)Cag>Aag	p.Q2022K	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2022	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						TTATCATACTGGGACACAACA	0.582																																						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.(6064-6066)Cag>Aag		Rho GTPase activating protein 32							102	85	91					11																	128839002		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.chr11:128839002G>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.6064C>A	11.37:g.128839002G>T	ENSP00000310561:p.Gln2022Lys		Somatic				ARHGAP32_ENST00000527272.1_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.Q1673K|ARHGAP32_ENST00000524655.1_3'UTR	p.Q2022K	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			22	6063	-			2022			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6064C>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384490	0.82792	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20881	2.04;2.04;2.04	5.68	5.68	0.88126	.	0.061145	0.64402	D	0.000003	T	0.40372	0.1114	M	0.64997	1.995	0.49687	D	0.999811	D	0.60575	0.988	P	0.54759	0.76	T	0.14783	-1.0460	10	0.72032	D	0.01	.	19.8476	0.96716	0.0:0.0:1.0:0.0	.	2022	A7KAX9	RHG32_HUMAN	K	2022;1673;1673	ENSP00000310561:Q2022K;ENSP00000376425:Q1673K;ENSP00000432862:Q1673K	ENSP00000310561:Q2022K	Q	-	1	0	ARHGAP32	128344212	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.376000	0.97181	2.694000	0.91930	0.650000	0.86243	CAG		0.582	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		4	71	4	71	---	---	---	---	T	128839002	G	T	128839002	3	4	134	1	0	0	0	0	1	0	0	0	881	1357	47	1	203	1	ARHGAP32	11	128839002	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	43379545	128839002	6167514	35	6289										
CEP290	80184	broad.mit.edu	37	chr12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tgactgaattttcatatgagTctgttgagaaagggttgaag	12	3	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.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		Somatic				CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	p.T405A	NM_025114.3	NP_079390.3	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	C	88514920	T	C	88514920	3	2	134	1	0	0	0	0	1	0	0	0	3253	1667	58	2	6390	2	CEP290	12	88514920	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		88514920	45336975	36	6290										
ACACB	32	broad.mit.edu	37	chr12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	caagcgtccaggtgccgtgcTggaagcaggctgcgtggtgg	18	10	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.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		Somatic				ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q	p.L952Q			WXS	Illumina GAIIx	Phase_I	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	7	79	---	---	---	---	A	109639448	T	A	109639448	3	1	134	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	37	6291										
TBX5	6910	broad.mit.edu	37	chr12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gtagggtagcctgtccatggGctgcacggtggtgacggtgc	18	9	0	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.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	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		Somatic				TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	p.P417S	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	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	11	46	---	---	---	---	A	114793645	G	A	114793645	3	1	134	1	0	0	0	0	1	0	0	0	15658	1203	42	2	311	2	TBX5	12	114793645	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5154197	114793645	19058250	38	6292										
TMEM132D	121256	broad.mit.edu	37	chr12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gagccactgcagtggcaaagAtggccctgttgcttcctggg	14	11	0	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.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		Somatic				TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	p.I690T	NM_133448.2	NP_597705.2	WXS	Illumina GAIIx	Phase_I	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	5	109	---	---	---	---	G	129563125	A	G	129563125	3	3	134	1	0	0	0	0	1	0	0	0	16044	333	12	2	1238	2	TMEM132D	12	129563125	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	14769480	129563125	4288770	39	6293										
ENOX1	55068	broad.mit.edu	37	chr13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ttctgttcggaaaagctgttCtttttcttgtttcagcagct	8	8	4	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.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*		Somatic				ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	WXS	Illumina GAIIx	Phase_I	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	38	103	---	---	---	---	A	43872565	C	A	43872565	4	1	134	1	0	0	0	0	0	1	0	0	5126	922	32	3	592	3	ENOX1	13	43872565	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		43872565	71297313	40	6294										
TUBGCP3	10426	broad.mit.edu	37	chr13	113181286	113181286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tgactctgcagacttggtcaCagctatcatctttgtagtgg	10	9	4	2	rs368850824		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.chr13:113181286C>A	ENST00000261965.3	-	13	1711	c.1525G>T	c.(1525-1527)Gtg>Ttg	p.V509L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	509					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)	p.V509L(1)		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)					GACTTGGTCACAGCTATCATC	0.423																																						ENST00000261965.3																			1	Substitution - Missense(1)	p.V509L(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1525-1527)Gtg>Ttg		tubulin, gamma complex associated protein 3							202	157	172					13																	113181286		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.chr13:113181286C>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.1525G>T	13.37:g.113181286C>A	ENSP00000261965:p.Val509Leu		Somatic				TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V509L|TUBGCP3_ENST00000462580.1_5'UTR	p.V509L	NM_006322.4	NP_006313.1	WXS	Illumina GAIIx	Phase_I	Q96CW5	GCP3_HUMAN			13	1711	-	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)		509					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1525G>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840552	0.16891	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07114	3.22;3.22	4.67	3.82	0.43975	.	0.081637	0.48767	D	0.000179	T	0.03783	0.0107	N	0.04297	-0.235	0.47308	D	0.999384	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.004	T	0.37407	-0.9707	10	0.09843	T	0.71	-15.6377	12.6376	0.56692	0.0:0.9186:0.0:0.0814	.	499;509;509	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	L	509	ENSP00000261965:V509L;ENSP00000364821:V509L	ENSP00000261965:V509L	V	-	1	0	TUBGCP3	112229287	1.000000	0.71417	0.968000	0.41197	0.377000	0.30045	7.064000	0.76721	0.966000	0.38159	0.196000	0.17591	GTG		0.423	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		3	67	3	67	---	---	---	---	A	113181286	C	A	113181286	3	1	134	1	0	0	0	0	1	0	0	0	16764	478	17	3	1238	3	TUBGCP3	13	113181286	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	69308721	113181286	1988592	41	6295										
C14orf145	145508	broad.mit.edu	37	chr14	81251838	81251838	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ctttcgaagattctctatttGttgtaatgctgcatacagct	7	8	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.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*		Somatic				CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*	p.Q538*			WXS	Illumina GAIIx	Phase_I	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	11	22	---	---	---	---	A	81251838	G	A	81251838	4	1	134	1	0	0	0	0	0	1	0	0	1749	1386	48	2	1716	2	C14orf145	14	81251838	Nonsense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		81251838	26097702	42	6296										
COMMD4	54939	broad.mit.edu	37	chr15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cccagagcacgcggccagccTgtgccgctgttatgaggaga	14	13	0	3	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_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron	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		Somatic				COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P	p.L106P	NM_017828.3	NP_060298.2	WXS	Illumina GAIIx	Phase_I	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	3	45	---	---	---	---	C	75631620	T	C	75631620	3	2	134	1	0	0	0	0	1	0	0	0	3718	1580	55	2	339	2	COMMD4	15	75631620	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		75631620	26899772	43	6297										
AP3B2	8120	broad.mit.edu	37	chr15	83332552	83332552	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	actctgccccaaggctctcaCtgttttcctgctccaggagg	9	15	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.chr15:83332552C>A	ENST00000261722.3	-	19	2587		c.e19+1		RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site|AP3B2_ENST00000535359.1_Splice_Site	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						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.?(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)			AAGGCTCTCACTGTTTTCCTG	0.587																																						ENST00000261722.3																			2	Unknown(2)	p.?(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.e19+1		adaptor-related protein complex 3, beta 2 subunit							54	63	60					15																	83332552		2075	4215	6290	SO:0001630	splice_region_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83332552C>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.2379+1G>T	15.37:g.83332552C>A			Somatic				AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA		NM_004644.3	NP_004635.2	WXS	Illumina GAIIx	Phase_I	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		19	2587	-								A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Splice_Site	SNP	ENST00000261722.3	37		CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146545	0.57044	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2608	0.54649	0.0:0.9193:0.0:0.0807	.	.	.	.	.	-1	.	.	.	-	.	.	AP3B2	81129607	0.790000	0.28787	0.956000	0.39512	0.707000	0.40811	2.028000	0.41088	2.654000	0.90174	0.563000	0.77884	.		0.587	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		Intron	3	36	3	36	---	---	---	---	A	83332552	C	A	83332552	5	1	134	1	0	0	0	0	0	0	1	0	745	579	20	3	900	3	AP3B2	15	83332552	Splice_Site	SNP	C	TCGA-G9-6363-01A-21D-1786-08	7700932	83332552	19198840	44	6298										
GTF3C1	2975	broad.mit.edu	37	chr16	27500375	27500375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cacacccacctttttggcctGgttgatgatgtagctggtcc	10	12	0	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.chr16:27500375G>T	ENST00000356183.4	-	21	3433	c.3418C>A	c.(3418-3420)Cag>Aag	p.Q1140K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1140					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)	p.Q1140K(1)		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						TTTTTGGCCTGGTTGATGATG	0.577																																						ENST00000356183.4																			1	Substitution - Missense(1)	p.Q1140K(1)	prostate(1)	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.(3418-3420)Cag>Aag		general transcription factor IIIC, polypeptide 1, alpha 220kDa							191	176	181					16																	27500375		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27500375G>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.3418C>A	16.37:g.27500375G>T	ENSP00000348510:p.Gln1140Lys		Somatic				GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q1140K	p.Q1140K	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			21	3433	-			1140					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.3418C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	1.640	-0.516750	0.04200	.	.	ENSG00000077235	ENST00000356183	T	0.18657	2.2	4.65	2.29	0.28610	.	0.488967	0.23002	N	0.053066	T	0.03739	0.0106	N	0.00170	-1.935	0.22771	N	0.998756	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43458	-0.9390	10	0.02654	T	1	-8.2781	11.3929	0.49825	0.0:0.0:0.3385:0.6615	.	1140;1140	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1140	ENSP00000348510:Q1140K	ENSP00000348510:Q1140K	Q	-	1	0	GTF3C1	27407876	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	1.465000	0.35299	0.223000	0.20920	-0.274000	0.10170	CAG		0.577	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	121	5	121	---	---	---	---	T	27500375	G	T	27500375	3	4	134	1	0	0	0	0	1	0	0	0	6872	1357	47	1	2979	1	GTF3C1	16	27500375	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		27500375	62854378	45	6299										
BRD7	29117	broad.mit.edu	37	chr16	50368807	50368807	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ttcaggctctgaattctttcCtaaacatattcgaaaatatt	4	8	3	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.chr16:50368807C>A	ENST00000394688.3	-	7	862		c.e7-1		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAATTCTTTCCTAAACATATT	0.373																																						ENST00000394688.3																			1	Unknown(1)	p.?(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.e7-1		bromodomain containing 7							62	62	62					16																	50368807		2198	4300	6498	SO:0001630	splice_region_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50368807C>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.703-1G>T	16.37:g.50368807C>A			Somatic				BRD7_ENST00000394689.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NPI1	BRD7_HUMAN			7	862	-		all_cancers(37;0.0127)						Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Splice_Site	SNP	ENST00000394688.3	37		CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182614	0.78677	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7678	0.88483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD7	48926308	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.808000	0.75206	2.797000	0.96272	0.655000	0.94253	.		0.373	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	Intron	4	57	4	57	---	---	---	---	A	50368807	C	A	50368807	5	1	134	1	0	0	0	0	0	0	1	0	1505	695	24	1	1300	1	BRD7	16	50368807	Splice_Site	SNP	C	TCGA-G9-6363-01A-21D-1786-08	22868432	50368807	39985946	46	6300										
BRD7	29117	broad.mit.edu	37	chr16	50402142	50402142	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gagtcgtgccccgagctgccCgtggagagttcggtgacttc	15	12	0	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.chr16:50402142C>A	ENST00000394688.3	-	2	276	c.117G>T	c.(115-117)acG>acT	p.T39T	BRD7_ENST00000394689.2_Silent_p.T39T|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	39	Lys-rich.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T39T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCGAGCTGCCCGTGGAGAGTT	0.468																																						ENST00000394688.3																			1	Substitution - coding silent(1)	p.T39T(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(115-117)acG>acT		bromodomain containing 7							111	117	115					16																	50402142		2198	4300	6498	SO:0001819	synonymous_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50402142C>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.117G>T	16.37:g.50402142C>A			Somatic				BRD7_ENST00000394689.2_Silent_p.T39T|BRD7_ENST00000401491.3_5'UTR	p.T39T			WXS	Illumina GAIIx	Phase_I	Q9NPI1	BRD7_HUMAN			2	276	-		all_cancers(37;0.0127)	39			Lys-rich.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	37	c.117G>T	CCDS10742.1																																																																																				0.468	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		5	162	5	162	---	---	---	---	A	50402142	C	A	50402142	2	1	134	1	0	0	0	0	0	0	0	1	1505	639	23	1		1	BRD7	16	50402142	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	33335	50402142	39952611	47	6301										
CES2	51647	broad.mit.edu	37	chr16	66969408	66969408	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cggcccaagccagcgcacccCgctgactccctgcccagtcc	9	22	0	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.chr16:66969408C>A	ENST00000422424.2	-	0	0				CES2_ENST00000317091.4_Missense_Mutation_p.P21Q|CES2_ENST00000417689.1_Missense_Mutation_p.P21Q	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						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)		CAGCGCACCCCGCTGACTCCC	0.662																																						ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(61-63)cCg>cAg		carboxylesterase 2							75	86	82					16																	66969408		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969408C>A		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		16.37:g.66969408C>A	Exception_encountered		Somatic				CES2_ENST00000417689.1_Missense_Mutation_p.P21Q	p.P21Q	NM_003869.5	NP_003860.2	WXS	Illumina GAIIx	Phase_I	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1046	+		Ovarian(137;0.0563)	0						Missense_Mutation	SNP	ENST00000422424.2	37	c.62C>A	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986716	0.53934	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66815	-0.22;-0.23	3.64	-4.63	0.03359	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.09310	N	1	B	0.17852	0.024	B	0.14578	0.011	T	0.39396	-0.9616	8	0.87932	D	0	.	3.9591	0.09403	0.2603:0.2408:0.0:0.4989	.	21	A8K367	.	Q	21	ENSP00000394452:P21Q;ENSP00000317842:P21Q	ENSP00000317842:P21Q	P	+	2	0	CES2	65526909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.251000	0.08818	-0.961000	0.03609	-0.768000	0.03414	CCG		0.662	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		5	126	5	126	---	---	---	---	A	66969408	C	A	66969408	1	1	134	0	1	0	0	0	0	0	0	0	3270	652	23	1		1	CES2	16	66969408	5'Flank	SNP	C	TCGA-G9-6363-01A-21D-1786-08	16567266	66969408	23385345	48	6302										
DNAH2	146754	broad.mit.edu	37	chr17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gtcaatcctgaataagtattCagaagccatcagggggaact	10	8	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.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*		Somatic				DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*	p.S1694*			WXS	Illumina GAIIx	Phase_I	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	30	378	---	---	---	---	G	7680786	C	G	7680786	4	3	134	1	0	0	0	0	0	1	0	0	4602	838	29	4	5207	4	DNAH2	17	7680786	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		7680786	73514424	49	6303										
DNAH9	1770	broad.mit.edu	37	chr17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cacggctttccccacaaaatGgctctcctcactatcaggta	6	15	3	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.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																																						ENST00000262442.4																			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		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	p.G971S	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				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	5	125	---	---	---	---	A	11572560	G	A	11572560	3	1	134	1	0	0	0	0	1	0	0	0	4608	1348	47	2	2973	2	DNAH9	17	11572560	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	3891774	11572560	69622650	50	6304										
CCDC144A	9720	broad.mit.edu	37	chr17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ctcctggagacactggcgtgGacaagagggataggaagaag	16	7	0	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.chr17:16594036G>T	ENST00000360524.8	+	1	398	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|RNU6-405P_ENST00000516637.1_RNA	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		Somatic				CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y	p.D108Y			WXS	Illumina GAIIx	Phase_I	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	27	245	---	---	---	---	T	16594036	G	T	16594036	3	4	134	1	0	0	0	0	1	0	0	0	2777	1174	41	3	324	3	CCDC144A	17	16594036	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5021476	16594036	64601174	51	6305										
FLII	2314	broad.mit.edu	37	chr17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	agcagggctcaccttgtacaGcttgggctgcggcggccaga	15	12	1	1	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_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000578558.1_Intron	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		Somatic	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_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.L642V	p.L728V	NM_002018.3	NP_002009.1	WXS	Illumina GAIIx	Phase_I	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	7	61	---	---	---	---	C	18151872	G	C	18151872	3	2	134	1	0	0	0	0	1	0	0	0	5925	962	34	4	1679	4	FLII	17	18151872	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	1557836	18151872	63043338	52	6306										
HEXIM1	10614	broad.mit.edu	37	chr17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT													0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	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.(967-972)cgggag>cgGGAGCTggag		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		Somatic					p.328_329insLE	NM_006460.2	NP_006451.1	WXS	Illumina GAIIx	Phase_I	O94992	HEXI1_HUMAN			1	2842_2843	+			328			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	134	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	25075653	43227525	37967685	53	6307										
ABCA5	23461	broad.mit.edu	37	chr17	67252297	67252297	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	tagccataaagaataaattaCctcctcacaacactggcaac	4	12	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.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_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			Somatic				ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	7	134	---	---	---	---	T	67252297	C	T	67252297	5	4	134	1	0	0	0	0	0	0	1	0	35	521	18	2	1113	2	ABCA5	17	67252297	Splice_Site	SNP	C	TCGA-G9-6363-01A-21D-1786-08	24024772	67252297	13942913	54	6308										
MAP2K6	5608	broad.mit.edu	37	chr17	67513026	67513026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gatttagactccaaggcttgCatttctattggaaatcaggt	9	7	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.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			Somatic				MAP2K6_ENST00000589647.1_5'UTR	p.C38C	NM_002758.3	NP_002749.2	WXS	Illumina GAIIx	Phase_I	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	5	106	---	---	---	---	T	67513026	C	T	67513026	2	4	134	1	0	0	0	0	0	0	0	1	9241	718	25	2		2	MAP2K6	17	67513026	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	260729	67513026	13682184	55	6309										
DOT1L	84444	broad.mit.edu	37	chr19	2216565	2216565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	cgtcgaagcagaacacgcccCagtacctggcctcacccctg	9	18	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.chr19:2216565C>A	ENST00000398665.3	+	20	2245	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	AC004490.1_ENST00000585593.1_RNA|DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	737					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)		GAACACGCCCCAGTACCTGGC	0.672																																						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.(2209-2211)Cag>Aag		DOT1-like histone H3K79 methyltransferase							39	46	44					19																	2216565		2058	4194	6252	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216565C>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.2209C>A	19.37:g.2216565C>A	ENSP00000381657:p.Gln737Lys		Somatic				DOT1L_ENST00000608122.1_3'UTR	p.Q737K	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	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)	20	2245	+		Hepatocellular(1079;0.137)	737					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2209C>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013745	0.75161	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.24151	1.87	5.21	5.21	0.72293	.	0.141125	0.51477	D	0.000089	T	0.33614	0.0869	M	0.62723	1.935	0.39672	D	0.970771	P;P	0.47762	0.9;0.519	P;B	0.44860	0.462;0.195	T	0.30504	-0.9976	10	0.87932	D	0	-32.7438	15.481	0.75528	0.0:1.0:0.0:0.0	.	737;737	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	K	737	ENSP00000381657:Q737K	ENSP00000221482:Q737K	Q	+	1	0	DOT1L	2167565	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	6.889000	0.75627	2.437000	0.82529	0.655000	0.94253	CAG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		4	76	4	76	---	---	---	---	A	2216565	C	A	2216565	3	1	134	1	0	0	0	0	1	0	0	0	4709	595	21	1	2287	1	DOT1L	19	2216565	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		2216565	56912418	56	6310										
SFRS16	11129	broad.mit.edu	37	chr19	45567373	45567375	+	In_Frame_Del	DEL	GAG	GAG	-													0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	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)gagdel		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		Somatic				CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del	p.E338del			WXS	Illumina GAIIx	Phase_I	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	134	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	43350808	45567373	13561610	57	6311										
TMEM143	55260	broad.mit.edu	37	chr19	48836662	48836662	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ttggctaggagccagttctcCacctccgaccggagccacct	10	16	1	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.chr19:48836662C>A	ENST00000293261.3	-	8	1510	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000377431.2_Silent_p.V298V	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	398					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)		GCCAGTTCTCCACCTCCGACC	0.622																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1192-1194)gtG>gtT		transmembrane protein 143							53	51	51					19																	48836662		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48836662C>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.1194G>T	19.37:g.48836662C>A			Somatic				TMEM143_ENST00000377431.2_Silent_p.V298V|TMEM143_ENST00000435956.3_Silent_p.V363V|TMEM143_ENST00000436660.2_Silent_p.V333V|TMEM143_ENST00000541566.1_Silent_p.V288V	p.V398V	NM_018273.2	NP_060743.2	WXS	Illumina GAIIx	Phase_I	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)	8	1510	-		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)	398					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.1194G>T	CCDS12716.1																																																																																				0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		4	82	4	82	---	---	---	---	A	48836662	C	A	48836662	2	1	134	1	0	0	0	0	0	0	0	1	16054	581	21	1		1	TMEM143	19	48836662	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	3269289	48836662	10292321	58	6312										
HSPBP1	23640	broad.mit.edu	37	chr19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	acatggcctcctgcagccacTgacgcctctggagaccaagg	11	15	1	2	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_ENST00000433386.2_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_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		Somatic				HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	WXS	Illumina GAIIx	Phase_I	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	7	21	---	---	---	---	C	55789207	T	C	55789207	3	2	134	1	0	0	0	0	1	0	0	0	7426	1580	55	2	885	2	HSPBP1	19	55789207	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	6952545	55789207	3339776	59	6313										
CTSA	5476	broad.mit.edu	37	chr20	44520659	44520659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gctcctcacagagcatggccCcttcctggtgagtggacagc	12	14	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.chr20:44520659C>A	ENST00000372459.2	+	2	492	c.299C>A	c.(298-300)cCc>cAc	p.P100H	NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372484.3_Missense_Mutation_p.P118H|RP3-337O18.9_ENST00000607703.1_RNA			P10619	PPGB_HUMAN	cathepsin A	100					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GAGCATGGCCCCTTCCTGGTG	0.562											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(352-354)cCc>cAc		cathepsin A							31	35	34					20																	44520659		2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520659C>A	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.299C>A	20.37:g.44520659C>A	ENSP00000361537:p.Pro100His		Somatic	OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	924	CTSA_ENST00000354880.5_Missense_Mutation_p.P118H|CTSA_ENST00000191018.5_Missense_Mutation_p.P100H|CTSA_ENST00000372459.2_Missense_Mutation_p.P100H	p.P118H	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	WXS	Illumina GAIIx	Phase_I	P10619	PPGB_HUMAN			3	635	+		Myeloproliferative disorder(115;0.0122)	100					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.353C>A	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445972	0.96187	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.99226	-5.59;-5.59;-5.59;-5.59;-5.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.99347	4.525	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	0.96918	0.9672	10	0.87932	D	0	-0.1224	18.4903	0.90844	0.0:1.0:0.0:0.0	.	117;100;117	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	H	118;118;100;100;100	ENSP00000346952:P118H;ENSP00000361562:P118H;ENSP00000191018:P100H;ENSP00000408533:P100H;ENSP00000361537:P100H	ENSP00000191018:P100H	P	+	2	0	CTSA	43954066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.673000	0.83973	2.465000	0.83290	0.555000	0.69702	CCC		0.562	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		4	47	4	47	---	---	---	---	A	44520659	C	A	44520659	3	1	134	1	0	0	0	0	1	0	0	0	4029	623	22	1	363	1	CTSA	20	44520659	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		44520659	18504861	60	6314										
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	ctgcaccagctcctgcacgcCctcgtgctgccagcagtcta	9	18	1	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.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		Somatic				TSPEAR_ENST00000323084.4_Intron	p.P87L	NM_198687.1	NP_941960.1	WXS	Illumina GAIIx	Phase_I	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	16	85	---	---	---	---	T	45993895	C	T	45993895	3	4	134	1	0	0	0	0	1	0	0	0	8511	623	22	2	262	2	KRTAP10-4	21	45993895	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		45993895	2136000	61	6315										
ARSF	416	broad.mit.edu	37	chrX	3002395	3002395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0483870967741935	3	1	1.28046218487395	2.41865079365079	0.659632034632035	1	1	0	gttcactctcgttgacagctGctggccggacccctctcgta	10	15	3	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.chrX:3002395G>T	ENST00000381127.1	+	6	739	c.518G>T	c.(517-519)tGc>tTc	p.C173F	ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	173					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)	p.C173F(1)		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)				GTTGACAGCTGCTGGCCGGAC	0.527																																						ENST00000381127.1																			1	Substitution - Missense(1)	p.C173F(1)	prostate(1)	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.(517-519)tGc>tTc		arylsulfatase F							142	107	119					X																	3002395		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002395G>T	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.518G>T	X.37:g.3002395G>T	ENSP00000370519:p.Cys173Phe		Somatic				ARSF_ENST00000359361.2_Missense_Mutation_p.C173F|ARSF_ENST00000537104.1_Missense_Mutation_p.C173F	p.C173F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			6	739	+		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)	173					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.518G>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167534	0.38315	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93307	-3.2;-3.2;-3.2	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.96231	0.8771	M	0.81341	2.54	0.58432	D	0.999999	D	0.64830	0.994	D	0.75020	0.985	D	0.96146	0.9104	10	0.51188	T	0.08	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	173	P54793	ARSF_HUMAN	F	173	ENSP00000370519:C173F;ENSP00000445594:C173F;ENSP00000352319:C173F	ENSP00000352319:C173F	C	+	2	0	ARSF	3012395	1.000000	0.71417	0.041000	0.18516	0.113000	0.19764	7.933000	0.87642	1.331000	0.45412	0.540000	0.68198	TGC		0.527	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			6	50	6	50	---	---	---	---	T	3002395	G	T	3002395	3	4	134	1	0	0	0	0	1	0	0	0	991	1319	46	3	536	3	ARSF	23	3002395	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		3002395	152268165	62	6316										
CAPN13	92291	broad.mit.edu	37	chr2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcatcctcgaggaagccaTagtgcagatcggaataggat	14	8	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.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C	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		Somatic				CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	p.Y185C	NM_144575.2	NP_653176.2	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	C	30987143	T	C	30987143	3	2	135	1	0	0	0	0	1	0	0	0	2626	1406	49	2	1523	2	CAPN13	2	30987143	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		30987143	212212230	1	6317										
SPTBN1	6711	broad.mit.edu	37	chr2	54753666	54753666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacaatgagaacagctctgcGcggctttttgagcggtcccg	13	11	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.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	6711				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			Somatic				AC092839.3_ENST00000433475.1_RNA	p.A37A	NM_003128.2	NP_003119.2	WXS	Illumina GAIIx	Phase_I	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	16	54	---	---	---	---	A	54753666	G	A	54753666	2	1	135	1	0	0	0	0	0	0	0	1	15118	1074	38	2		2	SPTBN1	2	54753666	Silent	SNP	G	TCGA-G9-6364-01A-21D-1786-08	23766523	54753666	188445707	2	6318										
NGLY1	55768	broad.mit.edu	37	chr3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcagcacagtgtaaaacaaTtggcccactcgccacaccgt	9	14	0	0			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_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000428257.1_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|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		Somatic				NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V	p.N314S	NM_001145293.1	NP_001138765.1	WXS	Illumina GAIIx	Phase_I	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	8	61	---	---	---	---	C	25778887	T	C	25778887	3	2	135	1	0	0	0	0	1	0	0	0	10398	1493	52	2	1147	2	NGLY1	3	25778887	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		25778887	172243543	3	6319										
SLC34A2	10568	broad.mit.edu	37	chr4	25678365	25678365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaaagaccgaatgcacggcCttgtaggggacgccccagat	12	12	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.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_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			Somatic				SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	p.A689A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	WXS	Illumina GAIIx	Phase_I	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	12	56	---	---	---	---	T	25678365	C	T	25678365	2	4	135	1	0	0	0	0	0	0	0	1	14568	668	24	2		2	SLC34A2	4	25678365	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		25678365	165475911	4	6320										
TMEM184C	55751	broad.mit.edu	37	chr4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtttattgctggaatcttTttgctgttgactattcctat	8	6	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.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		Somatic				TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	p.F55L	NM_018241.2	NP_060711.2	WXS	Illumina GAIIx	Phase_I	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	23	66	---	---	---	---	G	148545026	T	G	148545026	3	3	135	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	5	6321										
FZD6	8323	broad.mit.edu	37	chr8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaaatacctgatgacattaAttgttggcatctctgctgtc	7	8	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.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	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		Somatic				FZD6_ENST00000522566.1_Missense_Mutation_p.I485V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000540287.1_Missense_Mutation_p.I180V	p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	WXS	Illumina GAIIx	Phase_I	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	14	47	---	---	---	---	G	104340556	A	G	104340556	3	3	135	1	0	0	0	0	1	0	0	0	6134	101	4	2	1467	2	FZD6	8	104340556	Missense_Mutation	SNP	A	TCGA-G9-6364-01A-21D-1786-08		104340556	42023466	6	6322										
SLK	9748	broad.mit.edu	37	chr10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttactgttgattccaacaaaCccatccgagaattgattgca	6	10	0	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.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		Somatic				SLK_ENST00000335753.4_Missense_Mutation_p.P299T	p.P299T	NM_014720.2	NP_055535.2	WXS	Illumina GAIIx	Phase_I	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	7	32	---	---	---	---	A	105761232	C	A	105761232	3	1	135	1	0	0	0	0	1	0	0	0	14748	507	18	3	925	3	SLK	10	105761232	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		105761232	29773515	7	6323										
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259904	71259904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgtggctcctgtgggggCtccaagggaggctgtggttc	19	9	0	0			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			Somatic					p.G67G	NM_005553.3	NP_005544.4	WXS	Illumina GAIIx	Phase_I	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	8	159	---	---	---	---	T	71259904	C	T	71259904	2	4	135	1	0	0	0	0	0	0	0	1	8568	784	28	2		2	KRTAP5-9	11	71259904	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		71259904	63746612	8	6324										
BBS10	79738	broad.mit.edu	37	chr12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttagaataaactctgatcCagaagtggaaaaaagaggct	9	5	1	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.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		Somatic					p.G272R	NM_024685.3	NP_078961.3	WXS	Illumina GAIIx	Phase_I	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	12	26	---	---	---	---	T	76740951	C	T	76740951	3	4	135	1	0	0	0	0	1	0	0	0	1336	603	21	2	1361	2	BBS10	12	76740951	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		76740951	57110944	9	6325										
RPS6KA5	9252	broad.mit.edu	37	chr14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaaacaagcttcctcatgaTgtagctggcttccgtctcac	8	12	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.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		Somatic				RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	p.I524L	NM_004755.2	NP_004746.2	WXS	Illumina GAIIx	Phase_I	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	25	54	---	---	---	---	G	91360831	T	G	91360831	3	3	135	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	10	6326										
AP3B2	8120	broad.mit.edu	37	chr15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgatgttagttgcacagcgtCcaatggcctggattgtggct	13	9	0	0			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	AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA|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		Somatic				AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA	p.G434V	NM_004644.3	NP_004635.2	WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	A	83346500	C	A	83346500	3	1	135	1	0	0	0	0	1	0	0	0	745	855	30	3	2007	3	AP3B2	15	83346500	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		83346500	19184892	11	6327										
IQGAP1	8826	broad.mit.edu	37	chr15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaaactgcttgtgatgtcCcagagcttcaggataaattt	8	9	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.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		Somatic				IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	p.P1273A	NM_003870.3	NP_003861.1	WXS	Illumina GAIIx	Phase_I	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	33	121	---	---	---	---	G	91027480	C	G	91027480	3	3	135	1	0	0	0	0	1	0	0	0	7814	623	22	4	3935	4	IQGAP1	15	91027480	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	7680980	91027480	11503912	12	6328										
TMEM105	284186	broad.mit.edu	37	chr17	79287646	79287646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggctcagcacagtccccCcaaggagaccgaggtgggga	15	13	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.chr17:79287646C>A	ENST00000332900.1	-	3	744	c.195G>T	c.(193-195)tgG>tgT	p.W65C		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	65						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CACAGTCCCCCCAAGGAGACC	0.642																																						ENST00000332900.1																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(193-195)tgG>tgT		transmembrane protein 105							37	46	43					17																	79287646		2203	4298	6501	SO:0001583	missense	284186					integral to membrane		g.chr17:79287646C>A	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.195G>T	17.37:g.79287646C>A	ENSP00000329795:p.Trp65Cys		Somatic					p.W65C	NM_178520.3	NP_848615.1	WXS	Illumina GAIIx	Phase_I	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	744	-	all_neural(118;0.0804)|Melanoma(429;0.242)		65						Missense_Mutation	SNP	ENST00000332900.1	37	c.195G>T	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	5.227	0.227465	0.09916	.	.	ENSG00000185332	ENST00000332900	T	0.56444	0.46	2.53	-1.14	0.09741	.	.	.	.	.	T	0.39963	0.1098	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.56042	0.79	T	0.30208	-0.9986	9	0.87932	D	0	.	4.9737	0.14129	0.1668:0.51:0.3233:0.0	.	65	Q8N8V8	TM105_HUMAN	C	65	ENSP00000329795:W65C	ENSP00000329795:W65C	W	-	3	0	TMEM105	76902241	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.674000	0.05233	-0.149000	0.11215	-0.802000	0.03209	TGG		0.642	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		4	112	4	112	---	---	---	---	A	79287646	C	A	79287646	3	1	135	1	0	0	0	0	1	0	0	0	16016	624	22	1	198	1	TMEM105	17	79287646	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		79287646	1907564	13	6329										
C20orf194	25943	broad.mit.edu	37	chr20	3236652	3236652	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctgggctctggaaaccacCtgcttagctgactgccgcag	12	13	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.(3259-3261)caG>caC		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			Somatic				C20orf194_ENST00000453730.2_3'UTR	p.Q1087H	NM_001009984.2	NP_001009984.1	WXS	Illumina GAIIx	Phase_I	Q5TEA3	CT194_HUMAN			34	3328	-			1087					Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3261G>C	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	8	27	---	---	---	---	G	3236652	C	G	3236652	5	3	135	1	0	0	0	0	0	0	1	0	2099	695	24	4	288	4	C20orf194	20	3236652	Splice_Site	SNP	C	TCGA-G9-6364-01A-21D-1786-08		3236652	59788868	14	6330										
PTPRT	11122	broad.mit.edu	37	chr20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatgtccaccaccccttcaTtctcggccatgtcaagcatg	7	15	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.chr20:40735499T>G	ENST00000373187.1	-	24	3316	c.3317A>C	c.(3316-3318)aAt>aCt	p.N1106T	PTPRT_ENST00000373198.4_Missense_Mutation_p.N1125T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T			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																																						ENST00000373198.4																			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.(3373-3375)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		Somatic				PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T	p.N1125T	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			25	3609	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3374A>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	4	103	---	---	---	---	G	40735499	T	G	40735499	3	3	135	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	15	6331										
PRKAA2	5563	broad.mit.edu	37	chr1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ttttgaaatgtgtgccagtcTgattactactttagcccgtt	8	8	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.chr1:57173364T>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		Somatic					p.L546Q	NM_006252.3	NP_006243.2	WXS	Illumina GAIIx	Phase_I	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	4	142	---	---	---	---	A	57173364	T	A	57173364	3	1	136	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		57173364	192077257	1	6332										
SPTA1	6708	broad.mit.edu	37	chr1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tcatctcttggccagttttcTgtatgttttccagctgggtc	9	10	3	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.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																																						ENST00000368147.4																			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		Somatic					p.Q641R	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			15	2102	-	all_hematologic(112;0.0378)							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	12	130	---	---	---	---	C	158637764	T	C	158637764	3	2	136	1	0	0	0	0	1	0	0	0	15115	1580	55	2	5489	2	SPTA1	1	158637764	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	101464400	158637764	90612857	2	6333										
DUSP27	92235	broad.mit.edu	37	chr1	167095421	167095421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gaggaggaggagaaactgtaCgagcagtggaagaaggggca	19	4	0	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.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR			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			Somatic				DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y	p.Y351Y			WXS	Illumina GAIIx	Phase_I	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	5	18	---	---	---	---	T	167095421	C	T	167095421	2	4	136	1	0	0	0	0	0	0	0	1	4824	547	19	2		2	DUSP27	1	167095421	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08	8457657	167095421	82155200	3	6334										
TTN	7273	broad.mit.edu	37	chr2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tggtccagtactgtcagaggGtttacttattgcaccagctg	11	9	1	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.chr2:179432336G>A	ENST00000591111.1	-	276	73824	c.73600C>T	c.(73600-73602)Ccc>Tcc	p.P24534S	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26175S|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_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		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.P26175S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	6	92	---	---	---	---	A	179432336	G	A	179432336	3	1	136	1	0	0	0	0	1	0	0	0	16732	1261	44	2	29604	2	TTN	2	179432336	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		179432336	63767037	4	6335										
TKT	7086	broad.mit.edu	37	chr3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gggccatctgggagggcccgTcttcccctggggtgtggggg	20	11	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.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000461139.1_5'UTR			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		Somatic				TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V	p.D424V			WXS	Illumina GAIIx	Phase_I	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	5	157	---	---	---	---	A	53263147	T	A	53263147	3	1	136	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		53263147	144759283	5	6336										
CEP97	79598	broad.mit.edu	37	chr3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gcacctgcttacctacccagAagtcttgctatactttcttt	5	13	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.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_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		Somatic				CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S	p.R170S			WXS	Illumina GAIIx	Phase_I	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	7	140	---	---	---	---	T	101450746	A	T	101450746	3	4	136	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	6	6337										
FGA	2243	broad.mit.edu	37	chr4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	aaattgtttgctgtaacttgAagatttaccacgggaaggga	11	5	0	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.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		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.S577P	p.S577P	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	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	25	82	---	---	---	---	G	155506852	A	G	155506852	3	3	136	1	0	0	0	0	1	0	0	0	5830	246	9	2	923	2	FGA	4	155506852	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		155506852	35647424	7	6338										
BRD9	65980	broad.mit.edu	37	chr5	889273	889273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	aaaagcaaaaaatccatgggGatcttttctgaaagcaaaga	8	6	2	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		Somatic				BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S	p.P41S			WXS	Illumina GAIIx	Phase_I	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	13	15	---	---	---	---	A	889273	G	A	889273	3	1	136	1	0	0	0	0	1	0	0	0	1507	1174	41	2	1372	2	BRD9	5	889273	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		889273	180025987	8	6339										
GFM2	84340	broad.mit.edu	37	chr5	74056731	74056731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	actctaacatttgtacctggTagagaactgcaatttcttcc	6	10	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.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	174	---	---	---	---	C	74056731	T	C	74056731	2	2	136	1	0	0	0	0	0	0	0	1	6342	1625	57	2		2	GFM2	5	74056731	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	73167458	74056731	106858529	9	6340										
PCDHB5	26167	broad.mit.edu	37	chr5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	acggcgactcgggccagaacGcctggctgtcgtaccagctg	14	14	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.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	26167				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		Somatic					p.A599T	NM_015669.2	NP_056484.1	WXS	Illumina GAIIx	Phase_I	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	20	62	---	---	---	---	A	140516811	G	A	140516811	3	1	136	1	0	0	0	0	1	0	0	0	11545	1087	38	2	1797	2	PCDHB5	5	140516811	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	66460080	140516811	40398449	10	6341										
PCDHB12	56124	broad.mit.edu	37	chr5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	acggtgactcgggccagaacGcctggctgtcgtaccagctg	14	13	0	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.chr5:140590277G>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	56124				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		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	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	7	234	---	---	---	---	A	140590277	G	A	140590277	3	1	136	1	0	0	0	0	1	0	0	0	11537	1087	38	2	1800	2	PCDHB12	5	140590277	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	73466	140590277	40324983	11	6342										
GCNT2	2651	broad.mit.edu	37	chr6	10586319	10586319	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	aattgagcccgccaaaaagtTatgagaagctgaacagttcc	9	9	0	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_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y33H|GCNT2_ENST00000495262.1_Intron|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			Somatic				GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.Y33H	NM_145655.3	NP_663630.2	WXS	Illumina GAIIx	Phase_I	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	4	156	---	---	---	---	C	10586319	T	C	10586319	1	2	136	0	1	0	0	0	0	0	0	0	6301	1754	61	2		2	GCNT2	6	10586319	Intron	SNP	T	TCGA-G9-6365-01A-11D-1786-08		10586319	160528748	12	6343										
UBR2	23304	broad.mit.edu	37	chr6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-													0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	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)ctagtaaacdel		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		Somatic				UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	p.LVN674del	NM_015255.2	NP_056070.1	WXS	Illumina GAIIx	Phase_I	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	136	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	13	6344										
OPN5	221391	broad.mit.edu	37	chr6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ctgcctcttgctcccaacggCtgtgatcgtgttctcctacg	9	15	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.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_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V	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		Somatic				OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	p.A213V			WXS	Illumina GAIIx	Phase_I	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	32	80	---	---	---	---	T	47763181	C	T	47763181	3	4	136	1	0	0	0	0	1	0	0	0	10883	797	28	2	652	2	OPN5	6	47763181	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	5153762	47763181	123351886	14	6345										
NOD1	10392	broad.mit.edu	37	chr7	30491719	30491719	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ttccgctgcaccaggctgctGggctgcatcctgttcagatg	12	13	1	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.chr7:30491719G>T	ENST00000222823.4	-	6	1839	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	438	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						CCAGGCTGCTGGGCTGCATCC	0.652																																						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.(1312-1314)ccC>ccA		nucleotide-binding oligomerization domain containing 1							56	54	55					7																	30491719		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.chr7:30491719G>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.1314C>A	7.37:g.30491719G>T			Somatic					p.P438P	NM_006092.2	NP_006083.1	WXS	Illumina GAIIx	Phase_I	Q9Y239	NOD1_HUMAN			6	1839	-			438			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1314C>A	CCDS5427.1																																																																																				0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	83	4	83	---	---	---	---	T	30491719	G	T	30491719	2	4	136	1	0	0	0	0	0	0	0	1	10516	1335	47	1		1	NOD1	7	30491719	Silent	SNP	G	TCGA-G9-6365-01A-11D-1786-08		30491719	128646944	15	6346										
GCK	2645	broad.mit.edu	37	chr7	44185094	44185094	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ggagagagcggggcgggctcAcctggggtgcagcttgtaca	19	9	1	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.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000395796.3_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			Somatic				GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site		NM_000162.3	NP_000153.1	WXS	Illumina GAIIx	Phase_I	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	3	9	---	---	---	---	G	44185094	A	G	44185094	5	3	136	1	0	0	0	0	0	0	1	0	6293	173	6	2	150	2	GCK	7	44185094	Splice_Site	SNP	A	TCGA-G9-6365-01A-11D-1786-08	13693375	44185094	114953569	16	6347										
RB1CC1	9821	broad.mit.edu	37	chr8	53586756	53586756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ggtaaagaatccagtcttccCaaacattctctgtaactatg	6	10	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.chr8:53586756C>A	ENST00000025008.5	-	7	1174	c.651G>T	c.(649-651)ttG>ttT	p.L217F	RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	217					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)				CCAGTCTTCCCAAACATTCTC	0.403																																					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.(649-651)ttG>ttT		RB1-inducible coiled-coil 1							180	173	175					8																	53586756		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.chr8:53586756C>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.651G>T	8.37:g.53586756C>A	ENSP00000025008:p.Leu217Phe		Somatic				RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F	p.L217F	NM_014781.4	NP_055596.3	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			7	1174	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	217					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.651G>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857563	0.71834	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.4;2.4;2.4	5.36	4.45	0.53987	.	0.150825	0.44688	D	0.000430	T	0.30978	0.0782	L	0.58810	1.83	0.58432	D	0.999994	D;D	0.67145	0.996;0.993	D;P	0.65010	0.931;0.855	T	0.04537	-1.0944	10	0.72032	D	0.01	-8.1605	6.3054	0.21135	0.0:0.6539:0.0:0.3461	.	217;217	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	F	217	ENSP00000025008:L217F;ENSP00000396067:L217F;ENSP00000445960:L217F	ENSP00000025008:L217F	L	-	3	2	RB1CC1	53749309	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.713000	0.37951	1.305000	0.44909	0.467000	0.42956	TTG		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		4	157	4	157	---	---	---	---	A	53586756	C	A	53586756	3	1	136	1	0	0	0	0	1	0	0	0	13099	593	21	1	4205	1	RB1CC1	8	53586756	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		53586756	92777266	17	6348										
PREX2	80243	broad.mit.edu	37	chr8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	aatcttttggtgtactgcaaAagaaaacacaggtaagatcc	8	7	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.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		Somatic				PREX2_ENST00000529398.1_3'UTR	p.K276N	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	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	14	33	---	---	---	---	T	68950516	A	T	68950516	3	4	136	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	15363760	68950516	77413506	18	6349										
COL22A1	169044	broad.mit.edu	37	chr8	139642957	139642957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	caggtgacccttggattcctGgtggtccagcagctcctgca	12	13	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.chr8:139642957G>T	ENST00000303045.6	-	50	4090	c.3644C>A	c.(3643-3645)cCa>cAa	p.P1215Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|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.P1215Q(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)			TTGGATTCCTGGTGGTCCAGC	0.478										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.P1215Q(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.(3643-3645)cCa>cAa		collagen, type XXII, alpha 1							141	140	140					8																	139642957		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139642957G>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.3644C>A	8.37:g.139642957G>T	ENSP00000303153:p.Pro1215Gln	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR	p.P1215Q	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		50	4090	-	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)		1215			Collagen-like 11.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3644C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885855	0.33348	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96716	-4.1;-4.1	5.65	5.65	0.86999	.	0.136345	0.33438	N	0.004918	D	0.97005	0.9022	L	0.51853	1.615	0.45015	D	0.998039	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95296	0.8399	10	0.27785	T	0.31	.	15.093	0.72211	0.0:0.0:1.0:0.0	.	1195;1215	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1215;1195;908	ENSP00000303153:P1215Q;ENSP00000387655:P1195Q	ENSP00000303153:P1215Q	P	-	2	0	COL22A1	139712139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.785000	0.62418	2.941000	0.99782	0.655000	0.94253	CCA		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	172	4	172	---	---	---	---	T	139642957	G	T	139642957	3	4	136	1	0	0	0	0	1	0	0	0	3681	1348	47	1	1300	1	COL22A1	8	139642957	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	70692441	139642957	6721065	19	6350										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	cctggggcccatggagtgaaTgctcacgcacctgcgggggt	16	12	1	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.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_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		Somatic				ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R	p.C45R	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	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	11	98	---	---	---	---	C	18504896	T	C	18504896	3	2	136	1	0	0	0	0	1	0	0	0	274	1464	51	2	139	2	ADAMTSL1	9	18504896	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		18504896	122708535	20	6351										
DENND4C	55667	broad.mit.edu	37	chr9	19360324	19360324	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	actccgtaaagaacttgaatCtttgctagaaaatgaaggtg	9	6	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.chr9:19360324C>A	ENST00000380432.2	+	24	4421	c.4388C>A	c.(4387-4389)tCt>tAt	p.S1463Y	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1463					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)	p.S1463Y(1)		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						GAACTTGAATCTTTGCTAGAA	0.378																																						ENST00000380432.2																			1	Substitution - Missense(1)	p.S1463Y(1)	prostate(1)	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.(4387-4389)tCt>tAt		DENN/MADD domain containing 4C							138	133	134					9																	19360324		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360324C>A	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.4388C>A	9.37:g.19360324C>A	ENSP00000369797:p.Ser1463Tyr		Somatic				DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y	p.S1463Y			WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			24	4421	+			1463					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4388C>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294705	0.81025	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.37411	1.21;1.2	5.68	5.68	0.88126	.	0.050050	0.85682	D	0.000000	T	0.65852	0.2731	M	0.82323	2.585	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.996;0.997;0.942	T	0.66901	-0.5806	9	.	.	.	-19.0738	19.7905	0.96454	0.0:1.0:0.0:0.0	.	793;645;1463	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	Y	1463;936;645;793;936;645;460	ENSP00000305795:S936Y;ENSP00000443804:S793Y	.	S	+	2	0	DENND4C	19350324	0.796000	0.28864	1.000000	0.80357	0.992000	0.81027	1.593000	0.36686	2.666000	0.90696	0.655000	0.94253	TCT		0.378	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		4	146	4	146	---	---	---	---	A	19360324	C	A	19360324	3	1	136	1	0	0	0	0	1	0	0	0	4435	913	32	3	4482	3	DENND4C	9	19360324	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	855428	19360324	121853107	21	6352										
COL27A1	85301	broad.mit.edu	37	chr9	117052373	117052373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	caaggcaaggcaggggccccAggccggaggggggtccaggt	20	11	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.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			Somatic					p.P1414P	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	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	3	89	---	---	---	---	G	117052373	A	G	117052373	2	3	136	1	0	0	0	0	0	0	0	1	3685	175	7	2		2	COL27A1	9	117052373	Silent	SNP	A	TCGA-G9-6365-01A-11D-1786-08	97692049	117052373	24161058	22	6353										
OR4X1	390113	broad.mit.edu	37	chr11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	cttgctccttggtctatattAggccctgtgtcaccctccct	7	15	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.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		Somatic					p.R258G	NM_001004726.1	NP_001004726.1	WXS	Illumina GAIIx	Phase_I	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	3	221	---	---	---	---	G	48286184	A	G	48286184	3	3	136	1	0	0	0	0	1	0	0	0	11084	411	15	2	774	2	OR4X1	11	48286184	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		48286184	86720332	23	6354										
VWF	7450	broad.mit.edu	37	chr12	6058267	6058267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	agagccattggtgcagtgcaGggccacctgcatgggctccg	15	12	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.chr12:6058267G>T	ENST00000261405.5	-	52	8610	c.8356C>A	c.(8356-8358)Ctg>Atg	p.L2786M	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000546188.1_5'Flank|ANO2_ENST00000356134.5_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2786	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				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)	GTGCAGTGCAGGGCCACCTGC	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.(8356-8358)Ctg>Atg		von Willebrand factor	Antihemophilic Factor(DB00025)						99	77	85					12																	6058267		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.chr12:6058267G>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.8356C>A	12.37:g.6058267G>T	ENSP00000261405:p.Leu2786Met		Somatic					p.L2786M	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			52	8610	-			2786			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8356C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764627	0.49574	.	.	ENSG00000110799	ENST00000261405	T	0.60548	0.18	5.01	4.1	0.47936	Cystine knot, C-terminal (3);	0.000000	0.27581	N	0.018727	T	0.73016	0.3533	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.74728	-0.3567	10	0.72032	D	0.01	.	10.2628	0.43436	0.0989:0.0:0.9011:0.0	.	2786	P04275	VWF_HUMAN	M	2786	ENSP00000261405:L2786M	ENSP00000261405:L2786M	L	-	1	2	VWF	5928528	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	3.608000	0.54109	1.084000	0.41184	0.555000	0.69702	CTG		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	33	3	33	---	---	---	---	T	6058267	G	T	6058267	3	4	136	1	0	0	0	0	1	0	0	0	17243	991	35	1	89	1	VWF	12	6058267	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		6058267	127793628	24	6355										
CLEC1A	51267	broad.mit.edu	37	chr12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gacttcctgcaagctttataTtctggacttgaagagattgc	9	8	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.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|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	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		Somatic				CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	p.N107I	NM_016511.2	NP_057595.2	WXS	Illumina GAIIx	Phase_I	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	5	92	---	---	---	---	A	10233907	T	A	10233907	3	1	136	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	4175640	10233907	123617988	25	6356										
ANAPC7	51434	broad.mit.edu	37	chr12	110815282	110815282	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	taataatgttttggctttctCctgtgtcactgggtcttcaa	8	8	4	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.chr12:110815282C>A	ENST00000455511.3	-	9	1375	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	459					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.E425*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTGGCTTTCTCCTGTGTCACT	0.418																																						ENST00000455511.3																			1	Substitution - Nonsense(1)	p.E425*(1)	prostate(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1375-1377)Gag>Tag		anaphase promoting complex subunit 7							248	210	223					12																	110815282		2203	4300	6503	SO:0001587	stop_gained	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.chr12:110815282C>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.1375G>T	12.37:g.110815282C>A	ENSP00000394394:p.Glu459*		Somatic				ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*|ANAPC7_ENST00000481473.1_5'UTR	p.E459*	NM_016238.2	NP_057322.2	WXS	Illumina GAIIx	Phase_I	Q9UJX3	APC7_HUMAN			9	1375	-			459					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	c.1375G>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	42	9.235192	0.99110	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	.	.	.	5.79	5.79	0.91817	.	0.044930	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.4707	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	X	459;33;57;459;152	.	ENSP00000402314:E459X	E	-	1	0	ANAPC7	109299665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.746000	0.94184	0.655000	0.94253	GAG		0.418	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		4	123	4	123	---	---	---	---	A	110815282	C	A	110815282	4	1	136	1	0	0	0	0	0	1	0	0	606	864	30	3	440	3	ANAPC7	12	110815282	Nonsense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	100581375	110815282	23036613	26	6357										
WSB2	55884	broad.mit.edu	37	chr12	118480735	118480735	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tgggtgtgaagctcagatctCtcacgacatcttggtggccg	13	10	4	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.chr12:118480735C>A	ENST00000315436.3	-	4	611	c.470G>T	c.(469-471)aGa>aTa	p.R157I	WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	157					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R157I(1)		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)					GCTCAGATCTCTCACGACATC	0.562																																						ENST00000315436.3																			1	Substitution - Missense(1)	p.R157I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(469-471)aGa>aTa		WD repeat and SOCS box containing 2							106	105	105					12																	118480735		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480735C>A	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.470G>T	12.37:g.118480735C>A	ENSP00000319474:p.Arg157Ile		Somatic				WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000544233.1_Intron	p.R157I	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			4	611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		157					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.470G>T	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125533	0.94429	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047272	0.85682	D	0.000000	T	0.73768	0.3629	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.68277	-0.5451	10	0.28530	T	0.3	-9.4694	18.7952	0.91991	0.0:1.0:0.0:0.0	.	157	Q9NYS7	WSB2_HUMAN	I	157;174;159;159	ENSP00000319474:R157I;ENSP00000409131:R174I;ENSP00000439450:R159I;ENSP00000440386:R159I	ENSP00000319474:R157I	R	-	2	0	WSB2	116965118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.037000	0.70956	2.727000	0.93392	0.644000	0.83932	AGA		0.562	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		4	141	4	141	---	---	---	---	A	118480735	C	A	118480735	3	1	136	1	0	0	0	0	1	0	0	0	17402	913	32	3	768	3	WSB2	12	118480735	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	7665453	118480735	15371160	27	6358										
LRRC43	254050	broad.mit.edu	37	chr12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	agaataagtcgcgctttcttCctcaaacttggcgaacttgg	9	10	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.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		Somatic				LRRC43_ENST00000425921.1_5'UTR	p.P57S	NM_152759.4	NP_689972.3	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	T	122669084	C	T	122669084	3	4	136	1	0	0	0	0	1	0	0	0	9001	855	30	2	175	2	LRRC43	12	122669084	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	4188349	122669084	11182811	28	6359										
CHMP4A	29082	broad.mit.edu	37	chr14	24682652	24682652	+	5'UTR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	ccgagaccactcatcgcgagCtcgcctctcccgcctccgcc	8	22	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.chr14:24682652C>G	ENST00000609024.1	-	0	42				AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000532557.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E41D|TM9SF1_ENST00000556387.1_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			Somatic				CHMP4A_ENST00000609024.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000530996.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	p.E41D	NM_014169.3	NP_054888.2	WXS	Illumina GAIIx	Phase_I				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	6	50	---	---	---	---	G	24682652	C	G	24682652	1	3	136	0	1	0	0	0	0	0	0	0	3356	796	28	4		4	CHMP4A	14	24682652	5'UTR	SNP	C	TCGA-G9-6365-01A-11D-1786-08		24682652	82666888	29	6360										
BTBD12	84464	broad.mit.edu	37	chr16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tacccgtctgggtgttttgtGctgtttcccggagcacaggt	13	10	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.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		Somatic					p.A157V	NM_032444.2	NP_115820.2	WXS	Illumina GAIIx	Phase_I	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	6	142	---	---	---	---	A	3658496	G	A	3658496	3	1	136	1	0	0	0	0	1	0	0	0	1540	1319	46	2	5090	2	BTBD12	16	3658496	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		3658496	86696257	30	6361										
ZNF747	65988	broad.mit.edu	37	chr16	30545567	30545567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	acctccggatcctgggcagcCggatcccacagttcggcctt	11	16	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.chr16:30545567C>A	ENST00000252799.3	-	1	1101	c.434G>T	c.(433-435)cGg>cTg	p.R145L	AC002310.12_ENST00000569752.1_RNA|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000568028.1_Silent_p.P98P|ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000569360.1_Silent_p.P98P|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000535210.1_Silent_p.P98P	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	145					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R145L(1)		kidney(1)|lung(3)|prostate(1)	5						CCTGGGCAGCCGGATCCCACA	0.637																																						ENST00000252799.3																			1	Substitution - Missense(1)	p.R145L(1)	prostate(1)	kidney(1)|lung(3)|prostate(1)	5						c.(433-435)cGg>cTg		zinc finger protein 747							25	21	22					16																	30545567		2196	4298	6494	SO:0001583	missense	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30545567C>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.434G>T	16.37:g.30545567C>A	ENSP00000252799:p.Arg145Leu		Somatic				ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000568028.1_Silent_p.P98P|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000569360.1_Silent_p.P98P|ZNF747_ENST00000535210.1_Silent_p.P98P	p.R145L	NM_023931.2	NP_076420.1	WXS	Illumina GAIIx	Phase_I	Q9BV97	ZN747_HUMAN			1	1101	-			145					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.434G>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448402	0.26074	.	.	ENSG00000169955	ENST00000252799;ENST00000395094	T;T	0.02395	4.31;4.42	2.43	-4.87	0.03123	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.22253	N	0.999255	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.44019	-0.9355	9	0.37606	T	0.19	.	2.6395	0.04967	0.1141:0.3925:0.1191:0.3744	.	145;145	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	L	145	ENSP00000252799:R145L;ENSP00000378528:R145L	ENSP00000252799:R145L	R	-	2	0	ZNF747	30453068	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-3.089000	0.00610	-2.274000	0.00680	-1.842000	0.00583	CGG		0.637	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		3	5	3	5	---	---	---	---	A	30545567	C	A	30545567	3	1	136	1	0	0	0	0	1	0	0	0	18127	652	23	1	149	1	ZNF747	16	30545567	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	26887071	30545567	59809186	31	6362										
SERPINF1	5176	broad.mit.edu	37	chr17	1679918	1679918	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	accttgatagaggagagcctCacctccgagttcattcatga	9	11	3	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			Somatic					p.L293L	NM_002615.5	NP_002606.3	WXS	Illumina GAIIx	Phase_I	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	5	166	---	---	---	---	T	1679918	C	T	1679918	2	4	136	1	0	0	0	0	0	0	0	1	14114	813	29	2		2	SERPINF1	17	1679918	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08		1679918	79515292	32	6363										
TAOK1	57551	broad.mit.edu	37	chr17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gaatgttacttgggcgtcatAacttagagcaggaccttgtc	11	8	1	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.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		Somatic				TAOK1_ENST00000536202.1_Intron	p.N628H	NM_020791.2	NP_065842.1	WXS	Illumina GAIIx	Phase_I	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	28	97	---	---	---	---	C	27844648	A	C	27844648	3	2	136	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	33	6364										
UNC45B	146862	broad.mit.edu	37	chr17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	cctgattcccctggctttggAgggcacagatgtgggcaagg	15	10	0	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_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G	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		Somatic				UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	p.E685G	NM_173167.2	NP_775259.1	WXS	Illumina GAIIx	Phase_I	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	3	133	---	---	---	---	G	33504058	A	G	33504058	3	3	136	1	0	0	0	0	1	0	0	0	16986	304	11	2	2112	2	UNC45B	17	33504058	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	5659410	33504058	47691152	34	6365										
TBCD	6904	broad.mit.edu	37	chr17	80726352	80726352	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tccgtgacctgcctgatcccTtttgatttttctcgccttga	7	13	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.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	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			Somatic				TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	p.P164P	NM_005993.4	NP_005984.3	WXS	Illumina GAIIx	Phase_I	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	4	297	---	---	---	---	C	80726352	T	C	80726352	2	2	136	1	0	0	0	0	0	0	0	1	15630	1596	56	2		2	TBCD	17	80726352	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	47222294	80726352	468858	35	6366										
ZNF709	163051	broad.mit.edu	37	chr19	12575501	12575501	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gtttctctccagtgtgagttCtttcatgcattcgaaaggaa	9	8	3	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.chr19:12575501C>A	ENST00000397732.3	-	4	1406	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)	p.R412I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCTTTCATGCAT	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.R412I(2)	large_intestine(1)|prostate(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1234-1236)aGa>aTa		zinc finger protein 709							105	109	108					19																	12575501		2201	4299	6500	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575501C>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.1235G>T	19.37:g.12575501C>A	ENSP00000380840:p.Arg412Ile		Somatic				ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I|CTD-3105H18.18_ENST00000598753.1_Intron	p.R412I	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1406	-			412					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1235G>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267803	0.40095	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24908	1.83;1.83	3.05	0.858	0.19030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002044	T	0.29716	0.0742	M	0.87971	2.92	0.41667	D	0.989214	B	0.29646	0.253	B	0.23018	0.043	T	0.21381	-1.0247	10	0.72032	D	0.01	.	8.6789	0.34196	0.0:0.7924:0.0:0.2076	.	412	Q8N972	ZN709_HUMAN	I	412	ENSP00000380840:R412I;ENSP00000404127:R412I	ENSP00000404127:R412I	R	-	2	0	ZNF709;CTD-2192J16.17	12436501	0.000000	0.05858	0.293000	0.24932	0.963000	0.63663	-1.379000	0.02554	0.337000	0.23665	0.591000	0.81541	AGA		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	123	4	123	---	---	---	---	A	12575501	C	A	12575501	3	1	136	1	0	0	0	0	1	0	0	0	18110	913	32	3	694	3	ZNF709	19	12575501	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		12575501	46553482	36	6367										
EMR2	30817	broad.mit.edu	37	chr19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	agttcaacagcccattggaaAggttcttgctcaggcctctg	10	11	4	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.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R	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		Somatic				EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	p.L348R	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	C	14875286	A	C	14875286	3	2	136	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	2299785	14875286	44253697	37	6368										
PSG11	5680	broad.mit.edu	37	chr19	43519267	43519267	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	aggatgctgggatccacttaCcaatgactctgattgtcaag	10	9	2	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_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site			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			Somatic				PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	12	158	---	---	---	---	A	43519267	C	A	43519267	5	1	136	1	0	0	0	0	0	0	1	0	12654	521	18	3	50	3	PSG11	19	43519267	Splice_Site	SNP	C	TCGA-G9-6365-01A-11D-1786-08	28643981	43519267	15609716	38	6369										
KLK3	354	broad.mit.edu	37	chr19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	cctccatgttatttccaatgAcgtgtgtgcgcaagttcacc	8	12	1	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.chr19:51361766A>C	ENST00000326003.2	+	4	586	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000360617.3_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A	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		Somatic				KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A	p.D182A			WXS	Illumina GAIIx	Phase_I	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	6	175	---	---	---	---	C	51361766	A	C	51361766	3	2	136	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	39	6370										
MBOAT7	79143	broad.mit.edu	37	chr19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	tctcaccagggctgggcctgAatgagggcccaggtcccgag	15	13	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.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|TSEN34_ENST00000429671.2_5'Flank	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	97	---	---	---	---	C	54692085	A	C	54692085	3	2	136	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	40	6371										
AGPAT3	56894	broad.mit.edu	37	chr21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.790909090909091	0	0.878787878787879	1	1	0	gaacttcctgtcctgggccaCcattctcctgtctcccctct	6	18	3	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.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_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		Somatic				AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N	p.T316N	NM_001037553.1	NP_001032642.1	WXS	Illumina GAIIx	Phase_I	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	4	121	---	---	---	---	A	45400973	C	A	45400973	3	1	136	1	0	0	0	0	1	0	0	0	388	507	18	3	973	3	AGPAT3	21	45400973	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		45400973	2728922	41	6372										
PTCH2	8643	broad.mit.edu	37	chr1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	tgaccacatgctggctgctgGcttcacagtgggtaaaggct	13	10	1	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.chr1:45293750G>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		Somatic				PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	p.A608V	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	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	16	172	---	---	---	---	A	45293750	G	A	45293750	3	1	137	1	0	0	0	0	1	0	0	0	12731	1203	42	2	1844	2	PTCH2	1	45293750	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		45293750	203956871	1	6373										
KCNJ10	3766	broad.mit.edu	37	chr1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	ggagatctttcaagggactgGtctcatctaccacatgatag	10	9	4	2	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		Somatic				KCNJ10_ENST00000509700.1_Intron	p.T262I	NM_002241.4	NP_002232.2	WXS	Illumina GAIIx	Phase_I	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	5	111	---	---	---	---	A	160011538	G	A	160011538	3	1	137	1	0	0	0	0	1	0	0	0	8044	1261	44	2	358	2	KCNJ10	1	160011538	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08	114717788	160011538	89239083	2	6374										
CNST	163882	broad.mit.edu	37	chr1	246810985	246810985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gatcttacagacagtgatggAaaatcaccacaggcgcaggc	11	10	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.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.G494G	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			Somatic				CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	p.G494G	NM_152609.2	NP_689822.2	WXS	Illumina GAIIx	Phase_I	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	8	78	---	---	---	---	G	246810985	A	G	246810985	2	3	137	1	0	0	0	0	0	0	0	1	3634	233	9	2		2	CNST	1	246810985	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	86799447	246810985	2439636	3	6375										
CACNB4	785	broad.mit.edu	37	chr2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	aaaacgtcctcttttttgttCttgctggatccgtatgttct	7	9	3	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.chr2:152732968C>A	ENST00000539935.1	-	5	560	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.E131*|CACNB4_ENST00000534999.1_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*		Somatic				CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*	p.E131*			WXS	Illumina GAIIx	Phase_I	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	10	16	---	---	---	---	A	152732968	C	A	152732968	4	1	137	1	0	0	0	0	0	1	0	0	2555	922	32	3	1109	3	CACNB4	2	152732968	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		152732968	90466405	4	6376										
SAG	6295	broad.mit.edu	37	chr2	234237163	234237163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	atccgcaaagtacagcatgcCccacttgagatgggtcccca	9	14	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.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			Somatic				SAG_ENST00000449594.2_Silent_p.A50A	p.A184A	NM_000541.4	NP_000532.2	WXS	Illumina GAIIx	Phase_I	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	7	140	---	---	---	---	T	234237163	C	T	234237163	2	4	137	1	0	0	0	0	0	0	0	1	13808	610	22	2		2	SAG	2	234237163	Silent	SNP	C	TCGA-G9-6366-01A-11D-2114-08	81504195	234237163	8962210	5	6377										
IL17RC	84818	broad.mit.edu	37	chr3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	tgccctagggagtgaggtacGaatctggtcctatactcagc	12	10	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.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	IL17RC_ENST00000403601.3_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|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR	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		Somatic				IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q	p.R243Q	NM_153461.3	NP_703191	WXS	Illumina GAIIx	Phase_I	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	6	28	---	---	---	---	A	9962224	G	A	9962224	3	1	137	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	6	6378										
SACM1L	22908	broad.mit.edu	37	chr3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	acttaccattgaccgtgtgtCcacagaggttacccttgcag	9	12	0	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.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000418611.1_5'UTR	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		Somatic				SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T	p.S37Y	NM_014016.3	NP_054735.3	WXS	Illumina GAIIx	Phase_I	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	36	71	---	---	---	---	A	45745007	C	A	45745007	3	1	137	1	0	0	0	0	1	0	0	0	13803	855	30	3	116	3	SACM1L	3	45745007	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	35782783	45745007	152277423	7	6379										
EXOC1	55763	broad.mit.edu	37	chr4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	ttccatttgttgctgaatttGaagaatttgctggacttgca	9	6	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.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		Somatic				EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q|EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q	p.E679Q	NM_001024924.1	NP_001020095.1	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	C	56762964	G	C	56762964	3	2	137	1	0	0	0	0	1	0	0	0	5301	1291	45	4	2093	4	EXOC1	4	56762964	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		56762964	134391312	8	6380										
NIPBL	25836	broad.mit.edu	37	chr5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	tggatcaaggatctatagaaCgcattttaaaacaggtacta	8	6	2	1	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		Somatic				NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina GAIIx	Phase_I	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	8	34	---	---	---	---	G	37017250	C	G	37017250	3	3	137	1	0	0	0	0	1	0	0	0	10428	536	19	4	4996	4	NIPBL	5	37017250	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		37017250	143898010	9	6381										
NSA2	10412	broad.mit.edu	37	chr5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gagcgaattgggccttgtgaCacaaggaggcaaagttattt	13	6	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.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		Somatic					p.T231I	NM_014886.3	NP_055701.1	WXS	Illumina GAIIx	Phase_I	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	10	148	---	---	---	---	T	74069862	C	T	74069862	3	4	137	1	0	0	0	0	1	0	0	0	10668	478	17	2	710	2	NSA2	5	74069862	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	37052612	74069862	106845398	10	6382										
AKAP12	9590	broad.mit.edu	37	chr6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	atgctcaggaggcaaaaactGagccttttacacaagggaag	11	8	1	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.chr6:151672836G>C	ENST00000253332.1	+	3	3499	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q			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		Somatic				AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q	p.E1104Q	NM_005100.3	NP_005091.2	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	C	151672836	G	C	151672836	3	2	137	1	0	0	0	0	1	0	0	0	448	1291	45	4	3349	4	AKAP12	6	151672836	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		151672836	19442231	11	6383										
KIAA1429	25962	broad.mit.edu	37	chr8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gatgatggaagtattctcatCatattccaggctgtcaagag	10	7	3	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.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H|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		Somatic				KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H	p.D93H	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	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	4	145	---	---	---	---	G	95549369	C	G	95549369	3	3	137	1	0	0	0	0	1	0	0	0	8231	826	29	4	5299	4	KIAA1429	8	95549369	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		95549369	50814653	12	6384										
PLCZ1	89869	broad.mit.edu	37	chr12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	acattcatttttaaacagtaGacattcacgtgaatccatgt	5	8	2	2	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_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V|RP11-361I14.2_ENST00000536931.1_RNA					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																																						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.(430-432)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		Somatic				PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V	p.L144V			WXS	Illumina GAIIx	Phase_I	Q86YW0	PLCZ1_HUMAN			5	693	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		144						Missense_Mutation	SNP	ENST00000266505.7	37	c.430C>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	16	40	---	---	---	---	C	18872504	G	C	18872504	3	2	137	1	0	0	0	0	1	0	0	0	12044	933	33	4	1440	4	PLCZ1	12	18872504	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		18872504	114979391	13	6385										
KRT18	3875	broad.mit.edu	37	chr12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-													0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	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_ENST00000549198.1_5'Flank|KRT18_ENST00000550600.1_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA	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)gacaatgcccgcatcgttctgcagattdel		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		Somatic				KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del	p.DNARIVLQI146del			WXS	Illumina GAIIx	Phase_I	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	137	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	14	6386										
CALCOCO1	57658	broad.mit.edu	37	chr12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	agtgacattccaccttggtgTtggggatgtaggtccgggct	15	8	0	1	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_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_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		Somatic				CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S	p.N27S			WXS	Illumina GAIIx	Phase_I	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	13	83	---	---	---	---	C	54118947	T	C	54118947	3	2	137	1	0	0	0	0	1	0	0	0	2577	1725	60	2	2051	2	CALCOCO1	12	54118947	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08	774817	54118947	79732948	15	6387										
CYP27B1	1594	broad.mit.edu	37	chr12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gagcggggccaggagactgcGgagcctttgccattcttcgc	15	12	1	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.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		Somatic	OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_ENST00000546496.1_5'UTR	p.R138C	NM_000785.3	NP_000776.1	WXS	Illumina GAIIx	Phase_I	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	9	14	---	---	---	---	A	58159257	G	A	58159257	3	1	137	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	16	6388										
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452768	100452768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	caagagcttcttccgcttcaAtcggccagccagatcactag	8	14	3	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.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			Somatic				UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	p.L763L	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	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	49	127	---	---	---	---	G	100452768	A	G	100452768	2	3	137	1	0	0	0	0	0	0	0	1	16966	98	4	2		2	UHRF1BP1L	12	100452768	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	42293511	100452768	33399127	17	6389										
MYBPC1	4604	broad.mit.edu	37	chr12	102072013	102072013	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	tgcagtgtgagaggaaatccTaaggtaccatgttcttctat	10	7	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.chr12:102072013T>A	ENST00000550270.1	+	27	3222	c.3222T>A	c.(3220-3222)ccT>ccA	p.P1074P	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000549145.1_Silent_p.P1087P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000545503.2_Silent_p.P1056P			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			Somatic				MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P	p.P1087P			WXS	Illumina GAIIx	Phase_I	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	53	124	---	---	---	---	A	102072013	T	A	102072013	2	1	137	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	18	6390										
SERPINE3	647174	broad.mit.edu	37	chr13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	acttgtttttcacagacaaaAgggtgaaagatttcttgcat	8	6	2	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.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		Somatic				SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G	p.R88G			WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	G	51918393	A	G	51918393	3	3	137	1	0	0	0	0	1	0	0	0	14113	63	3	2	268	2	SERPINE3	13	51918393	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		51918393	63251485	19	6391										
POTEM	641455	broad.mit.edu	37	chr14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gcccacgttgctcttgccgcTccccctgcaccaggggaagc	11	18	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.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		Somatic					p.S75G	NM_001145442.1	NP_001138914.1	WXS	Illumina GAIIx	Phase_I	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	5	382	---	---	---	---	C	20019998	T	C	20019998	3	2	137	1	0	0	0	0	1	0	0	0	12268	1551	54	2	1343	2	POTEM	14	20019998	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08		20019998	87329542	20	6392										
THTPA	79178	broad.mit.edu	37	chr14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	ggatagtggatgggagctcaAatgtcctggagcagcaggtg	17	6	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.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA			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	79178				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		Somatic				RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R	p.K65R			WXS	Illumina GAIIx	Phase_I	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	15	27	---	---	---	---	G	24026160	A	G	24026160	3	3	137	1	0	0	0	0	1	0	0	0	15878	14	1	2	196	2	THTPA	14	24026160	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	4006162	24026160	83323380	21	6393										
SYNE2	23224	broad.mit.edu	37	chr14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	accaaactctgaacgaaggcAaacagttggtggcgtctgtg	12	9	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.chr14:64604565A>C	ENST00000344113.4	+	79	14919	c.14707A>C	c.(14707-14709)Aaa>Caa	p.K4903Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.K1288Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q	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		Somatic				ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q	p.K1288Q			WXS	Illumina GAIIx	Phase_I	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	28	74	---	---	---	---	C	64604565	A	C	64604565	3	2	137	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	22	6394										
UACA	55075	broad.mit.edu	37	chr15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	cctctctagtctctaattttTttaatgcttgtttagtattc	4	8	2	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.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000560441.1_Missense_Mutation_p.K1201R	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		Somatic				UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R	p.K1216R	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	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	18	61	---	---	---	---	C	70959376	T	C	70959376	3	2	137	1	0	0	0	0	1	0	0	0	16821	1841	64	2	619	2	UACA	15	70959376	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08		70959376	31572016	23	6395										
SSH2	85464	broad.mit.edu	37	chr17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gaatgagatctccatagtttGttatgccgctgtttgctgtg	11	7	1	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.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.5_ENST00000581240.1_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		Somatic				SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA	p.N454K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	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	12	142	---	---	---	---	T	27963805	G	T	27963805	3	4	137	1	0	0	0	0	1	0	0	0	15184	1368	48	3	2917	3	SSH2	17	27963805	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		27963805	53231405	24	6396										
ERBB2	2064	broad.mit.edu	37	chr17	37881014	37881014	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gctggtgtgggctccccataTgtctcccgccttctgggcat	12	14	2	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.chr17:37881014T>C	ENST00000269571.5	+	20	2502	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000406381.2_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y			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)	Somatic				ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y	p.Y751Y	NM_001005862.1	NP_001005862.1	WXS	Illumina GAIIx	Phase_I	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	27	65	---	---	---	---	C	37881014	T	C	37881014	2	2	137	1	0	0	0	0	0	0	0	1	5206	1471	51	2		2	ERBB2	17	37881014	Silent	SNP	T	TCGA-G9-6366-01A-11D-2114-08	9917209	37881014	43314196	25	6397										
POTEC	388468	broad.mit.edu	37	chr18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	cagtggtggcaacacttgccCatcttgctcctgagcatctt	9	13	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.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		Somatic				POTEC_ENST00000389891.4_5'UTR	p.M61I	NM_001137671.1	NP_001131143.1	WXS	Illumina GAIIx	Phase_I	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	36	316	---	---	---	---	T	14542963	C	T	14542963	3	4	137	1	0	0	0	0	1	0	0	0	12262	594	21	2	1489	2	POTEC	18	14542963	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		14542963	63534285	26	6398										
TYK2	7297	broad.mit.edu	37	chr19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gcggctctgcagaggggcctCtccgtcaaagcagatctcca	12	14	4	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.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*	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*		Somatic				TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*	p.E812*	NM_003331.4	NP_003322.3	WXS	Illumina GAIIx	Phase_I	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	10	21	---	---	---	---	A	10468472	C	A	10468472	4	1	137	1	0	0	0	0	0	1	0	0	16807	922	32	3	1165	3	TYK2	19	10468472	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		10468472	48660511	27	6399										
LRFN3	79414	broad.mit.edu	37	chr19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	tgcagctggcgaggccacagCtgctgtggagctgactgtgg	17	10	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.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		Somatic				LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G	p.A377G			WXS	Illumina GAIIx	Phase_I	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	8	29	---	---	---	---	G	36431457	C	G	36431457	3	3	137	1	0	0	0	0	1	0	0	0	8939	797	28	4	1132	4	LRFN3	19	36431457	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	25962985	36431457	22697526	28	6400										
TSSK2	23617	broad.mit.edu	37	chr22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	gcagcccccgaggtgctgcaGagcatcccctaccagcccaa	10	18	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.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		Somatic				DGCR14_ENST00000252137.6_3'UTR	p.Q188H	NM_053006.4	NP_443732.3	WXS	Illumina GAIIx	Phase_I	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	34	96	---	---	---	---	C	19119476	G	C	19119476	3	2	137	1	0	0	0	0	1	0	0	0	16666	933	33	4	566	4	TSSK2	22	19119476	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		19119476	32185090	29	6401										
CABIN1	23523	broad.mit.edu	37	chr22	24460518	24460518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	ggagacatggagcaggccctGgagaactatgacatctgcac	13	10	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.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			Somatic				CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	p.L635L	NM_001199281.1	NP_001186210.1	WXS	Illumina GAIIx	Phase_I	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	9	329	---	---	---	---	A	24460518	G	A	24460518	2	1	137	1	0	0	0	0	0	0	0	1	2528	1335	47	2		2	CABIN1	22	24460518	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	5341042	24460518	26844048	30	6402										
PDZD4	57595	broad.mit.edu	37	chrX	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-													0.161290322580645	5	0.853525798085268	2.46913580246914	5.29100529100529	0	0.020979020979021	1	0	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_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR	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)gcgfs		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		Somatic				PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR	p.A110fs	NM_032512.2	NP_115901.2	WXS	Illumina GAIIx	Phase_I	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	137	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		153072793	2197767	31	6403										
LRPPRC	10128	broad.mit.edu	37	chr2	44153050	44153050	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	acctgattatttgcaacacaTctgtcacaaaaccactgaag	5	11	2	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			Somatic					p.R929R	NM_133259.3	NP_573566.2	WXS	Illumina GAIIx	Phase_I	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	6	85	---	---	---	---	C	44153050	T	C	44153050	2	2	138	1	0	0	0	0	0	0	0	1	8965	1432	50	2		2	LRPPRC	2	44153050	Silent	SNP	T	TCGA-G9-6367-01A-11D-1786-08		44153050	199046323	1	6404										
NOP58	51602	broad.mit.edu	37	chr2	203149110	203149110	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	tccatagtcctgttgttaatGaacttatgagaggaattcgt	9	6	0	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.chr2:203149110G>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*		Somatic				NOP58_ENST00000467734.1_3'UTR	p.E114*	NM_015934.3	NP_057018.1	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	T	203149110	G	T	203149110	4	4	138	1	0	0	0	0	0	1	0	0	10540	1291	45	3	358	3	NOP58	2	203149110	Nonsense_Mutation	SNP	G	TCGA-G9-6367-01A-11D-1786-08	158996060	203149110	40050263	2	6405										
ADAMTS2	9509	broad.mit.edu	37	chr5	178555106	178555106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	tcagtgagacccgggtgtctCccaccgggatgacctgtgcc	13	14	2	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.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		Somatic					p.G824V	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	A	178555106	C	A	178555106	3	1	138	1	0	0	0	0	1	0	0	0	265	855	30	3	1188	3	ADAMTS2	5	178555106	Missense_Mutation	SNP	C	TCGA-G9-6367-01A-11D-1786-08		178555106	2360154	3	6406										
HERC5	51191	broad.mit.edu	37	chr4	89415467	89415467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	ggaagacttgaaagaactcaGtcctgatttgggaaagtaag	12	5	1	4			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		Somatic				HERC5_ENST00000508159.1_Missense_Mutation_p.S448I	p.S810I	NM_016323.3	NP_057407.2	WXS	Illumina GAIIx	Phase_I	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	3	60	---	---	---	---	T	89415467	G	T	89415467	3	4	139	1	0	0	0	0	1	0	0	0	7061	1029	36	3	2499	3	HERC5	4	89415467	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		89415467	101738809	1	6407										
TMCC2	9911	broad.mit.edu	37	chr1	205238670	205238670	+	Frame_Shift_Del	DEL	A	A	-													0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	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_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|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)gacfs		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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	140	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	6408										
POTEF	728378	broad.mit.edu	37	chr2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	agagtccatcacgatgccagTagtacggccagaggtgtaca	12	10	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.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		Somatic				POTEF_ENST00000409914.2_Missense_Mutation_p.T849A	p.T849A			WXS	Illumina GAIIx	Phase_I	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	20	188	---	---	---	---	C	130832500	T	C	130832500	3	2	140	1	0	0	0	0	1	0	0	0	12265	1638	57	2	686	2	POTEF	2	130832500	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		130832500	112366873	2	6409										
IFT57	55081	broad.mit.edu	37	chr3	107885800	107885800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ctgatcttttccaaagtcctAgtaatttcattatggagttt	6	7	2	1	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			Somatic				IFT57_ENST00000468021.1_5'UTR	p.T294T	NM_018010.3	NP_060480.1	WXS	Illumina GAIIx	Phase_I	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	9	26	---	---	---	---	G	107885800	A	G	107885800	2	3	140	1	0	0	0	0	0	0	0	1	7562	407	15	2		2	IFT57	3	107885800	Silent	SNP	A	TCGA-G9-6371-01A-11D-1786-08		107885800	90136630	3	6410										
C4orf37	285555	broad.mit.edu	37	chr4	99030364	99030364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	tggactatatcatactgtccTggaccaggacctgacttttt	8	10	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.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			Somatic					p.P160P	NM_174952.2	NP_777612.1	WXS	Illumina GAIIx	Phase_I					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	3	76	---	---	---	---	C	99030364	T	C	99030364	2	2	140	1	0	0	0	0	0	0	0	1	2267	1567	55	2		2	C4orf37	4	99030364	Silent	SNP	T	TCGA-G9-6371-01A-11D-1786-08		99030364	92123912	4	6411										
ZNF131	7690	broad.mit.edu	37	chr5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	gctagaagctatcaaagcccTtgaagtcaggtacttaattt	8	8	2	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.chr5:43139402T>G	ENST00000399534.1	+	4	406	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509634.1_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		Somatic				ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R	p.L121R			WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	G	43139402	T	G	43139402	3	3	140	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	5	6412										
APBB3	10307	broad.mit.edu	37	chr5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	gactcaccatacaggcagccTgcacagcttcagagagtccc	9	15	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.chr5:139939911T>A	ENST00000357560.4	-	12	1654	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|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	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		Somatic				APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L	p.Q404L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	WXS	Illumina GAIIx	Phase_I	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	3	64	---	---	---	---	A	139939911	T	A	139939911	3	1	140	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	6	6413										
UIMC1	51720	broad.mit.edu	37	chr5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	tgtgtccccgctaccctggaCagctttgagaaaagcagaac	10	12	0	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_ENST00000377219.2_Missense_Mutation_p.V247F|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	145	---	---	---	---	A	176396017	C	A	176396017	3	1	140	1	0	0	0	0	1	0	0	0	16968	478	17	3	1460	3	UIMC1	5	176396017	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	36456106	176396017	4519243	7	6414										
TUBB2B	347733	broad.mit.edu	37	chr6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	cccatgctcatcactgatgaCctcccaaaactgagacagaa	6	14	2	4			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		Somatic				TUBB2B_ENST00000473006.1_5'UTR	p.V23F	NM_178012.4	NP_821080.1	WXS	Illumina GAIIx	Phase_I	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	15	158	---	---	---	---	A	3226894	C	A	3226894	3	1	140	1	0	0	0	0	1	0	0	0	16752	507	18	3	1282	3	TUBB2B	6	3226894	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		3226894	167888173	8	6415										
PGM3	5238	broad.mit.edu	37	chr6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	caataactacaaaggcatctTgttgcagattcacagcttct	6	10	3	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.chr6:83898366T>A	ENST00000283977.4	-	2	239	c.113A>T	c.(112-114)cAa>cTa	p.Q38L	PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|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		Somatic				PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L	p.Q119L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	A	83898366	T	A	83898366	3	1	140	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	9	6416										
HGF	3082	broad.mit.edu	37	chr7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	acttacaacgagaaatagggCaataatcccaaggaatgagt	9	7	0	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.chr7:81346562C>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		Somatic				HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	p.C464Y	NM_000601.4	NP_000592.3	WXS	Illumina GAIIx	Phase_I	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	8	72	---	---	---	---	T	81346562	C	T	81346562	3	4	140	1	0	0	0	0	1	0	0	0	7085	710	25	2	827	2	HGF	7	81346562	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		81346562	77792101	10	6417										
SLC4A2	6522	broad.mit.edu	37	chr7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	tcacagtgccgctccgcatgGtggtgctcacccgtatcttc	10	15	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.chr7:150773232G>A	ENST00000485713.1	+	22	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|RP11-148K1.12_ENST00000485974.1_RNA	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		Somatic				RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M	p.V1202M	NM_001199692.1	NP_001186621.1	WXS	Illumina GAIIx	Phase_I	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	6	137	---	---	---	---	A	150773232	G	A	150773232	3	1	140	1	0	0	0	0	1	0	0	0	14654	1261	44	2	3686	2	SLC4A2	7	150773232	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	69426670	150773232	8365431	11	6418										
GPR120	338557	broad.mit.edu	37	chr10	95326921	95326921	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	cacctgcagcgcggcgtgcgGggtcctgggcggcgggcgcg	21	14	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			Somatic				FFAR4_ENST00000604414.1_Silent_p.R148R|FFAR4_ENST00000371481.4_Silent_p.R148R	p.R148R	NM_181745.3	NP_859529.2	WXS	Illumina GAIIx	Phase_I					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	4	14	---	---	---	---	T	95326921	G	T	95326921	2	4	140	1	0	0	0	0	0	0	0	1	6636	1219	43	1		1	GPR120	10	95326921	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08		95326921	40207826	12	6419										
CPXM2	119587	broad.mit.edu	37	chr10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	tacagcttcaggccctggtgGctttttccaatgttgtaaat	9	9	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.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		Somatic				CPXM2_ENST00000368854.3_5'UTR	p.S347R	NM_198148.2	NP_937791.2	WXS	Illumina GAIIx	Phase_I	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	45	284	---	---	---	---	T	125530493	G	T	125530493	3	4	140	1	0	0	0	0	1	0	0	0	3838	1194	42	3	1257	3	CPXM2	10	125530493	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	30203572	125530493	10004254	13	6420										
OR5L2	26338	broad.mit.edu	37	chr11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ccctctcctaagtcttgcttGctctgatgtcactgtgaatg	8	12	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.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)	Somatic					p.C189F	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	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	54	117	---	---	---	---	T	55595260	G	T	55595260	3	4	140	1	0	0	0	0	1	0	0	0	11171	1319	46	3	568	3	OR5L2	11	55595260	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		55595260	79411256	14	6421										
PHLDB1	23187	broad.mit.edu	37	chr11	118498442	118498442	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	gccctacagcccccacagtcCcgcccaagtggtgctcgctc	9	20	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.chr11:118498442C>A	ENST00000361417.2	+	7	1314	c.903C>A	c.(901-903)tcC>tcA	p.S301S	PHLDB1_ENST00000356063.5_Silent_p.S301S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	301								p.S301S(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)		CCCCACAGTCCCGCCCAAGTG	0.672																																						ENST00000361417.2																			1	Substitution - coding silent(1)	p.S301S(1)	prostate(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						c.(901-903)tcC>tcA		pleckstrin homology-like domain, family B, member 1							45	49	48					11																	118498442		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118498442C>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	ENST00000361417.2:c.903C>A	11.37:g.118498442C>A			Somatic				PHLDB1_ENST00000356063.5_Silent_p.S301S	p.S301S	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1314	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	301					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.903C>A	CCDS8401.1																																																																																				0.672	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		4	73	4	73	---	---	---	---	A	118498442	C	A	118498442	2	1	140	1	0	0	0	0	0	0	0	1	11851	610	22	1		1	PHLDB1	11	118498442	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	62903182	118498442	16508074	15	6422										
KDM5A	5927	broad.mit.edu	37	chr12	417035	417035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	gctcacactgtagcataaacCcactggctgtcttgcggcaa	9	13	2	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.chr12:417035C>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		Somatic				KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	p.G1172V	NM_001042603.1	NP_001036068.1	WXS	Illumina GAIIx	Phase_I	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	11	137	---	---	---	---	A	417035	C	A	417035	3	1	140	1	0	0	0	0	1	0	0	0	8133	623	22	1	1581	1	KDM5A	12	417035	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		417035	133434860	16	6423										
SLC24A6	80024	broad.mit.edu	37	chr12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ggctgtcagatgtggcaaaaAaggtcactgaagccaaggct	13	8	2	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.chr12:113748079A>C	ENST00000552014.1	-	13	1732	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC8B1_ENST00000550047.1_5'Flank|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C			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)								c.(1216-1218)tTt>tGt		solute carrier family 8 (sodium/lithium/calcium exchanger), member B1							78	74	75					12																	113748079		2203	4300	6503	SO:0001583	missense	80024							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		Somatic				SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C|SLC8B1_ENST00000553238.1_5'UTR	p.F406C			WXS	Illumina GAIIx	Phase_I					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	5	82	---	---	---	---	C	113748079	A	C	113748079	3	2	140	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	113331044	113748079	20103816	17	6424										
GOLGA3	2802	broad.mit.edu	37	chr12	133351742	133351742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	agtaccgtcttggccgcgccGcggcgtaggtccagcttgag	15	13	1	1	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_ENST00000456883.2_Silent_p.R1376R|GOLGA3_ENST00000204726.3_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			Somatic				GOLGA3_ENST00000450791.2_Silent_p.R1376R|GOLGA3_ENST00000456883.2_Silent_p.R1376R	p.R1376R	NM_005895.3	NP_005886.2	WXS	Illumina GAIIx	Phase_I	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	6	57	---	---	---	---	A	133351742	G	A	133351742	2	1	140	1	0	0	0	0	0	0	0	1	6554	1074	38	2		2	GOLGA3	12	133351742	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	19603663	133351742	500153	18	6425										
PCDH20	64881	broad.mit.edu	37	chr13	61985844	61985844	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ttgccagttttagggtcaatCctgaaggactcaggcctagg	12	9	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.chr13:61985844C>A	ENST00000409186.1	-	5	4493	c.2388G>T	c.(2386-2388)agG>agT	p.R796S	PCDH20_ENST00000409204.4_Missense_Mutation_p.R796S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	796	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)|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)		TAGGGTCAATCCTGAAGGACT	0.468																																						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.(2386-2388)agG>agT		protocadherin 20							86	83	84					13																	61985844		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985844C>A	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.2388G>T	13.37:g.61985844C>A	ENSP00000386653:p.Arg796Ser		Somatic				PCDH20_ENST00000409204.4_Missense_Mutation_p.R796S	p.R796S			WXS	Illumina GAIIx	Phase_I	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4493	-		Breast(118;0.195)|Prostate(109;0.229)	769			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2388G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933413	0.18206	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.52983	0.64;0.64	6.06	1.39	0.22231	.	0.000000	0.64402	D	0.000001	T	0.23330	0.0564	N	0.13272	0.32	0.44024	D	0.996746	B	0.30146	0.27	B	0.31812	0.136	T	0.09840	-1.0656	10	0.06891	T	0.86	.	6.9937	0.24769	0.0:0.6281:0.1145:0.2575	.	796	A8K1K9	.	S	796;796;542	ENSP00000387250:R796S;ENSP00000386653:R796S	ENSP00000351500:R542S	R	-	3	2	PCDH20	60883845	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	1.333000	0.33816	-0.053000	0.13289	-0.181000	0.13052	AGG		0.468	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		4	119	4	119	---	---	---	---	A	61985844	C	A	61985844	3	1	140	1	0	0	0	0	1	0	0	0	11515	854	30	3	471	3	PCDH20	13	61985844	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		61985844	53184034	19	6426										
GRK1	6011	broad.mit.edu	37	chr13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ctatgcgtttgaaaccaaagCcgacctctgtctggtgatga	10	10	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.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		Somatic					p.A261G	NM_002929.2	NP_002920.1	WXS	Illumina GAIIx	Phase_I	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	4	154	---	---	---	---	G	114324084	C	G	114324084	3	3	140	1	0	0	0	0	1	0	0	0	6790	739	26	4	788	4	GRK1	13	114324084	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	52338240	114324084	845794	20	6427										
ANG	283	broad.mit.edu	37	chr14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	aaaacaagaatggaaaccctCacagagaaaacctaagaata	6	8	1	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.chr14:21161988C>T	ENST00000336811.6	+	2	865	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	RNASE4_ENST00000304704.4_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_Intron	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		Somatic				ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000555835.1_Intron|AL163636.6_ENST00000553909.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA	p.H89Y	NM_001145.4	NP_001136.1	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	T	21161988	C	T	21161988	3	4	140	1	0	0	0	0	1	0	0	0	607	826	29	2	267	2	ANG	14	21161988	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		21161988	86187552	21	6428										
ITPK1	3705	broad.mit.edu	37	chr14	93404856	93404856	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	tcttccagccttctataaagCacacttggcagtcccctggg	8	14	2	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.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			Somatic				ITPK1_ENST00000267615.6_3'UTR	p.C306Y	NM_001142594.1	NP_001136066.1	WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	T	93404856	C	T	93404856	1	4	140	0	1	0	0	0	0	0	0	0	7916	710	25	2		2	ITPK1	14	93404856	3'UTR	SNP	C	TCGA-G9-6371-01A-11D-1786-08	72242868	93404856	13944684	22	6429										
SLC6A4	6532	broad.mit.edu	37	chr17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	caggtccacagcatagccaaTcactgagagaaggaaatcca	9	11	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.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		Somatic				SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L	p.I93L			WXS	Illumina GAIIx	Phase_I	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	10	118	---	---	---	---	G	28548700	T	G	28548700	3	3	140	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		28548700	52646510	23	6430										
SBK2	646643	broad.mit.edu	37	chr19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	ggtgagggtccagcagccccCgcagaagcgcgtcggccgcg	17	15	0	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.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		Somatic				SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	p.R305Q	NM_001101401.2	NP_001094871.2	WXS	Illumina GAIIx	Phase_I	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	4	26	---	---	---	---	T	56041233	C	T	56041233	3	4	140	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	24	6431										
ZFP28	140612	broad.mit.edu	37	chr19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	cagtcatttaaggattcataCtggggagaagccttttgaat	10	6	2	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.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		Somatic				AC007228.11_ENST00000596587.1_RNA	p.T612I	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	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	9	138	---	---	---	---	T	57065989	C	T	57065989	3	4	140	1	0	0	0	0	1	0	0	0	17639	565	20	2	1865	2	ZFP28	19	57065989	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	1024756	57065989	2062994	25	6432										
RNF160	26046	broad.mit.edu	37	chr21	30339290	30339290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	cacccaaaacggactcaacaTcagcttctggctcactgatt	6	14	4	1	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_ENST00000389194.2_Missense_Mutation_p.D554A|LTN1_ENST00000389195.2_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																																						ENST00000389194.2																			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.(1660-1662)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		Somatic				LTN1_ENST00000361371.5_Missense_Mutation_p.D508A|LTN1_ENST00000389195.2_Missense_Mutation_p.D554A	p.D554A	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			10	1666	-			508					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1661A>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	10	117	---	---	---	---	G	30339290	T	G	30339290	3	3	140	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	26	6433										
TCN2	6948	broad.mit.edu	37	chr22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	caaggatggagaaaccattgAgctgaggctggttagctggt	15	6	0	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.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		Somatic				TCN2_ENST00000407817.3_Missense_Mutation_p.E394V|TCN2_ENST00000405742.3_Missense_Mutation_p.E417V	p.E421V			WXS	Illumina GAIIx	Phase_I	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	13	50	---	---	---	---	T	31022486	A	T	31022486	3	4	140	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	27	6434										
SREBF2	6721	broad.mit.edu	37	chr22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.903125	0	1.03214285714286	1	1	0	gcagcaggtgcagacagtacAggcccagcgggtgctgacac	15	12	0	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.chr22:42264696A>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		Somatic					p.Q207L	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	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	14	28	---	---	---	---	T	42264696	A	T	42264696	3	4	140	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	28	6435										
PINK1	65018	broad.mit.edu	37	chr1	20964582	20964582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ggagcgagctccgggggcccCtgccttccccttggccatca	13	17	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.chr1:20964582C>A	ENST00000321556.4	+	2	729	c.635C>A	c.(634-636)cCt>cAt	p.P212H		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-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;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGGGGGCCCCTGCCTTCCCC	0.577																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(634-636)cCt>cAt		PTEN induced putative kinase 1							35	35	35					1																	20964582		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20964582C>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.635C>A	1.37:g.20964582C>A	ENSP00000364204:p.Pro212His		Somatic					p.P212H	NM_032409.2	NP_115785.1	WXS	Illumina GAIIx	Phase_I	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	729	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	212			Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.635C>A	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236154	0.95240	.	.	ENSG00000158828	ENST00000321556	T	0.73681	-0.77	5.24	5.24	0.73138	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.495001	0.23032	N	0.052733	T	0.76350	0.3975	L	0.59436	1.845	0.35276	D	0.780885	P	0.43287	0.802	P	0.47206	0.541	T	0.81656	-0.0834	10	0.40728	T	0.16	-5.8274	14.6704	0.68939	0.0:1.0:0.0:0.0	.	212	Q9BXM7	PINK1_HUMAN	H	212	ENSP00000364204:P212H	ENSP00000364204:P212H	P	+	2	0	PINK1	20837169	0.003000	0.15002	0.127000	0.21898	0.893000	0.52053	1.250000	0.32850	2.629000	0.89072	0.555000	0.69702	CCT		0.577	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		4	52	4	52	---	---	---	---	A	20964582	C	A	20964582	3	1	141	1	0	0	0	0	1	0	0	0	11932	681	24	1	641	1	PINK1	1	20964582	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		20964582	228286039	1	6436										
SGIP1	84251	broad.mit.edu	37	chr1	67147695	67147695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tccatttttctgatacatccCcggaacatgttactccggag	7	12	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.chr1:67147695C>A	ENST00000371037.4	+	15	1035	c.958C>A	c.(958-960)Ccg>Acg	p.P320T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|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	320	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						TGATACATCCCCGGAACATGT	0.512																																						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.(958-960)Ccg>Acg		SH3-domain GRB2-like (endophilin) interacting protein 1							110	115	113					1																	67147695		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.chr1:67147695C>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.958C>A	1.37:g.67147695C>A	ENSP00000360076:p.Pro320Thr		Somatic				SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	p.P320T	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	Q9BQI5	SGIP1_HUMAN			15	1035	+			320			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.958C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303660	0.40795	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.02974	4.09;4.09	4.66	4.66	0.58398	.	0.143271	0.53938	D	0.000045	T	0.02047	0.0064	L	0.47716	1.5	0.80722	D	1	B;B	0.31383	0.321;0.075	B;B	0.31614	0.133;0.027	T	0.56269	-0.8007	10	0.35671	T	0.21	-8.7355	18.1064	0.89521	0.0:1.0:0.0:0.0	.	323;320	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	T	324;323;323;320	ENSP00000237247:P324T;ENSP00000360076:P320T	ENSP00000237247:P324T	P	+	1	0	SGIP1	66920283	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.015000	0.40961	2.570000	0.86706	0.455000	0.32223	CCG		0.512	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	183	8	183	---	---	---	---	A	67147695	C	A	67147695	3	1	141	1	0	0	0	0	1	0	0	0	14206	623	22	1	1016	1	SGIP1	1	67147695	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	46183113	67147695	182102926	2	6437										
C1orf173	127254	broad.mit.edu	37	chr1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttctatgcctggagggatctCccttttttctgtaaactctt	7	10	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.chr1:75038906C>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*		Somatic				C1orf173_ENST00000433746.2_5'UTR	p.E830*	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	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	13	130	---	---	---	---	A	75038906	C	A	75038906	4	1	141	1	0	0	0	0	0	1	0	0	2014	864	30	3	2108	3	C1orf173	1	75038906	Nonsense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	7891211	75038906	174211715	3	6438										
MCOLN3	55283	broad.mit.edu	37	chr1	85498463	85498463	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttcagtttaaactgaagctcCactgttaggagtctagaaaa	8	7	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.chr1:85498463C>A	ENST00000370589.2	-	6	700	c.648G>T	c.(646-648)gtG>gtT	p.V216V	MCOLN3_ENST00000341115.4_Silent_p.V160V|MCOLN3_ENST00000370587.1_Silent_p.V216V|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	216					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)		ACTGAAGCTCCACTGTTAGGA	0.443																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(646-648)gtG>gtT		mucolipin 3							166	159	161					1																	85498463		2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85498463C>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.648G>T	1.37:g.85498463C>A			Somatic				MCOLN3_ENST00000370589.2_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V	p.V216V			WXS	Illumina GAIIx	Phase_I	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	7	1024	-			216					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.648G>T	CCDS701.1																																																																																				0.443	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		7	203	7	203	---	---	---	---	A	85498463	C	A	85498463	2	1	141	1	0	0	0	0	0	0	0	1	9397	581	21	1		1	MCOLN3	1	85498463	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	10459557	85498463	163752158	4	6439										
PALMD	54873	broad.mit.edu	37	chr1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agcttcacaccccgcaaaaaAggctaatgactccttgggaa	8	12	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.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		Somatic				PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	p.R346W	NM_017734.4	NP_060204.1	WXS	Illumina GAIIx	Phase_I	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	15	27	---	---	---	---	T	100154852	A	T	100154852	3	4	141	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	14656389	100154852	149095769	5	6440										
PLEKHO1	51177	broad.mit.edu	37	chr1	150131388	150131388	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cccccaacccctgccctcccCaacccggggcagctgtcccg	8	24	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.chr1:150131388C>A	ENST00000369124.4	+	6	1178	c.900C>A	c.(898-900)ccC>ccA	p.P300P	PLEKHO1_ENST00000369126.1_Silent_p.P117P|PLEKHO1_ENST00000025469.6_Silent_p.P266P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	300	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)			CTGCCCTCCCCAACCCGGGGC	0.662																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(898-900)ccC>ccA		pleckstrin homology domain containing, family O member 1							27	32	31					1																	150131388		2202	4298	6500	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131388C>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.900C>A	1.37:g.150131388C>A			Somatic				PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P	p.P300P	NM_016274.4	NP_057358.2	WXS	Illumina GAIIx	Phase_I	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1178	+	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)		300			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.900C>A	CCDS945.1																																																																																				0.662	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		5	69	5	69	---	---	---	---	A	150131388	C	A	150131388	2	1	141	1	0	0	0	0	0	0	0	1	12084	581	21	1		1	PLEKHO1	1	150131388	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	49976536	150131388	99119233	6	6441										
PRPF3	9129	broad.mit.edu	37	chr1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gaaaaatggcactgtcaaagAgggagctggatgagctgaaa	14	5	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.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	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		Somatic				PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	p.R6G	NM_004698.2	NP_004689.1	WXS	Illumina GAIIx	Phase_I	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	7	128	---	---	---	---	G	150297416	A	G	150297416	3	3	141	1	0	0	0	0	1	0	0	0	12565	295	11	2	18	2	PRPF3	1	150297416	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	166028	150297416	98953205	7	6442										
RAB13	5872	broad.mit.edu	37	chr1	153954901	153954901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctgacttgagcaagatgtccCgggccagggaactaaaagcc	12	11	0	3	rs371012129		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.chr1:153954901C>A	ENST00000368575.3	-	7	615	c.500G>T	c.(499-501)cGg>cTg	p.R167L	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	167					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)	p.R167L(2)		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)			CAAGATGTCCCGGGCCAGGGA	0.507																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			2	Substitution - Missense(2)	p.R167L(2)	lung(2)	breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(499-501)cGg>cTg		RAB13, member RAS oncogene family							158	168	165					1																	153954901		2203	4300	6503	SO:0001583	missense	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153954901C>A	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.500G>T	1.37:g.153954901C>A	ENSP00000357564:p.Arg167Leu		Somatic				RAB13_ENST00000462680.1_5'UTR	p.R167L	NM_002870.2	NP_002861.1	WXS	Illumina GAIIx	Phase_I	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	615	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		167					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Missense_Mutation	SNP	ENST00000368575.3	37	c.500G>T	CCDS1058.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458711	0.63401	.	.	ENSG00000143545	ENST00000368575	T	0.79033	-1.23	4.6	4.6	0.57074	.	0.135173	0.47093	D	0.000252	T	0.58090	0.2098	L	0.40543	1.245	0.54753	D	0.999987	B	0.16166	0.016	B	0.17979	0.02	T	0.60762	-0.7199	10	0.44086	T	0.13	.	12.7893	0.57523	0.0:1.0:0.0:0.0	.	167	P51153	RAB13_HUMAN	L	167	ENSP00000357564:R167L	ENSP00000357564:R167L	R	-	2	0	RAB13	152221525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.739000	0.55075	2.387000	0.81309	0.655000	0.94253	CGG		0.507	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		6	216	6	216	---	---	---	---	A	153954901	C	A	153954901	3	1	141	1	0	0	0	0	1	0	0	0	12899	652	23	1	119	1	RAB13	1	153954901	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	3657485	153954901	95295720	8	6443										
ANGPTL1	9068	broad.mit.edu	37	chr1	178834872	178834872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	atgtccagtgtccactagtaGgaagaatagcacacctaggg	11	9	0	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.chr1:178834872G>T	ENST00000234816.2	-	3	487	c.40C>A	c.(40-42)Cta>Ata	p.L14I	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	14					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACTAGTAGGAAGAATAGC	0.378																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(40-42)Cta>Ata		angiopoietin-like 1							64	64	64					1																	178834872		2202	4298	6500	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834872G>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.40C>A	1.37:g.178834872G>T	ENSP00000234816:p.Leu14Ile		Somatic				RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I	p.L14I	NM_004673.3	NP_004664.1	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			3	487	-			14					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.40C>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	7.529	0.658328	0.14645	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.57436	0.4;0.4	5.89	2.55	0.30701	.	0.673920	0.14957	N	0.288599	T	0.44932	0.1317	L	0.59436	1.845	0.26424	N	0.976046	B	0.26902	0.163	B	0.22386	0.039	T	0.39354	-0.9618	10	0.48119	T	0.1	.	7.4212	0.27073	0.2084:0.0:0.6656:0.126	.	14	O95841	ANGL1_HUMAN	I	14	ENSP00000234816:L14I;ENSP00000356601:L14I	ENSP00000234816:L14I	L	-	1	2	ANGPTL1	177101495	1.000000	0.71417	0.759000	0.31340	0.062000	0.15995	1.323000	0.33701	0.826000	0.34661	-0.187000	0.12897	CTA		0.378	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		5	64	5	64	---	---	---	---	T	178834872	G	T	178834872	3	4	141	1	0	0	0	0	1	0	0	0	613	991	35	1	1451	1	ANGPTL1	1	178834872	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	24879971	178834872	70415749	9	6444										
TNNI1	7135	broad.mit.edu	37	chr1	201382239	201382239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccaccttggcgtgcagctccCggcacaggtcctgggggccg	15	16	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.chr1:201382239C>A	ENST00000361379.4	-	6	292	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592																																						ENST00000361379.4																			2	Substitution - Missense(2)	p.R67L(2)	lung(2)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(199-201)cGg>cTg		troponin I type 1 (skeletal, slow)							203	191	195					1																	201382239		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201382239C>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"troponin I, skeletal, slow"			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.200G>T	1.37:g.201382239C>A	ENSP00000354488:p.Arg67Leu		Somatic				TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L	p.R67L	NM_003281.3	NP_003272.3	WXS	Illumina GAIIx	Phase_I	P19237	TNNI1_HUMAN			6	292	-			67		R -> W (in dbSNP:rs2296695).			A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.200G>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405415	0.62288	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.11	5.11	0.69529	.	0.133611	0.48767	D	0.000169	D	0.94644	0.8273	M	0.84082	2.675	0.80722	D	1	P	0.40266	0.71	B	0.37422	0.249	D	0.95566	0.8634	10	0.87932	D	0	-17.0586	18.5306	0.90990	0.0:1.0:0.0:0.0	.	67	P19237	TNNI1_HUMAN	L	67;67;67;67;67;67;46;67	ENSP00000354488:R67L;ENSP00000337022:R67L;ENSP00000451307:R67L;ENSP00000356281:R67L;ENSP00000451660:R46L;ENSP00000451776:R67L	ENSP00000337022:R67L	R	-	2	0	TNNI1	199648862	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.066000	0.41452	2.385000	0.81259	0.561000	0.74099	CGG		0.592	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		7	264	7	264	---	---	---	---	A	201382239	C	A	201382239	3	1	141	1	0	0	0	0	1	0	0	0	16323	652	23	1	375	1	TNNI1	1	201382239	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	22547367	201382239	47868382	10	6445										
DPYSL5	56896	broad.mit.edu	37	chr2	27165567	27165567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ggcaccggcaagttctgtccCctgaggtccttcccagacac	10	16	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.chr2:27165567C>A	ENST00000288699.6	+	11	1547	c.1389C>A	c.(1387-1389)ccC>ccA	p.P463P	DPYSL5_ENST00000401478.1_Silent_p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	463					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)					AGTTCTGTCCCCTGAGGTCCT	0.647											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1387-1389)ccC>ccA		dihydropyrimidinase-like 5							62	59	60					2																	27165567		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.chr2:27165567C>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.1389C>A	2.37:g.27165567C>A			Somatic	OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Silent_p.P463P	p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	WXS	Illumina GAIIx	Phase_I	Q9BPU6	DPYL5_HUMAN			11	1547	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		463					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.1389C>A	CCDS1730.1																																																																																				0.647	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		5	82	5	82	---	---	---	---	A	27165567	C	A	27165567	2	1	141	1	0	0	0	0	0	0	0	1	4750	610	22	1		1	DPYSL5	2	27165567	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		27165567	216033806	11	6446										
SLC4A5	57835	broad.mit.edu	37	chr2	74481805	74481805	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	attgtaggattttgctctccCagaaggtcccagtagtataa	9	8	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.chr2:74481805C>A	ENST00000377634.4	-	14	1453	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G352W|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.G352W(2)		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						TTTGCTCTCCCAGAAGGTCCC	0.428																																						ENST00000394019.2																			2	Substitution - Missense(2)	p.G352W(2)	lung(2)	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.(1054-1056)Ggg>Tgg		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							175	175	175					2																	74481805		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74481805C>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.1054G>T	2.37:g.74481805C>A	ENSP00000366861:p.Gly352Trp		Somatic				SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W	p.G352W	NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			14	1451	-			352						Missense_Mutation	SNP	ENST00000377634.4	37	c.1054G>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591509	0.86953	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.35	5.35	0.76521	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	M	0.93939	3.475	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	0.982;1.0;0.999;1.0;0.999	D	0.93765	0.7070	10	0.87932	D	0	.	16.6023	0.84819	0.0:1.0:0.0:0.0	.	352;352;288;352;352	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	W	352;352;352;288;352;288;352;352;352;352	ENSP00000377587:G352W;ENSP00000251768:G352W;ENSP00000352461:G288W;ENSP00000395804:G352W;ENSP00000351513:G288W;ENSP00000350475:G352W;ENSP00000366859:G352W;ENSP00000366861:G352W;ENSP00000405678:G352W	ENSP00000251768:G352W	G	-	1	0	SLC4A5	74335313	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.651000	0.83577	2.780000	0.95670	0.655000	0.94253	GGG		0.428	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			7	248	7	248	---	---	---	---	A	74481805	C	A	74481805	3	1	141	1	0	0	0	0	1	0	0	0	14657	594	21	1	2431	1	SLC4A5	2	74481805	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	47316238	74481805	168717568	12	6447										
ZNF514	84874	broad.mit.edu	37	chr2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctggaagtgaaaggacttccCacactcattacatttacaag	7	10	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.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					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						AAGGACTTCCCACACTCATTA	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(628-630)Ggg>Tgg		zinc finger protein 514							121	128	126					2																	95815602		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815602C>A	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.628G>T	2.37:g.95815602C>A	ENSP00000295208:p.Gly210Trp		Somatic				ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	p.G210W	NM_032788.1	NP_116177.1	WXS	Illumina GAIIx	Phase_I	Q96K75	ZN514_HUMAN			5	1090	-			210					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.628G>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890939	0.72524	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.36520	1.25;1.25	3.71	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65217	0.2670	M	0.90309	3.105	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73770	-0.3878	9	0.72032	D	0.01	.	13.3589	0.60644	0.0:1.0:0.0:0.0	.	210;29	Q96K75;Q658L7	ZN514_HUMAN;.	W	210	ENSP00000295208:G210W;ENSP00000405509:G210W	ENSP00000295208:G210W	G	-	1	0	ZNF514	95179329	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.006000	0.57083	2.065000	0.61736	0.655000	0.94253	GGG		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		7	162	7	162	---	---	---	---	A	95815602	C	A	95815602	3	1	141	1	0	0	0	0	1	0	0	0	17956	594	21	1	578	1	ZNF514	2	95815602	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	21333797	95815602	147383771	13	6448										
POTEE	445582	broad.mit.edu	37	chr2	131976433	131976433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgcctggtggggtaaagtccCcagaaaggatctcatcgtca	12	10	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.chr2:131976433C>A	ENST00000356920.5	+	1	552	c.458C>A	c.(457-459)cCc>cAc	p.P153H	POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	153					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGTAAAGTCCCCAGAAAGGAT	0.577																																						ENST00000356920.5																			0											c.(457-459)cCc>cAc		POTE ankyrin domain family, member E							77	83	81					2																	131976433		2202	4296	6498	SO:0001583	missense	445582						ATP binding	g.chr2:131976433C>A	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.458C>A	2.37:g.131976433C>A	ENSP00000439189:p.Pro153His		Somatic				PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron	p.P153H	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			1	552	+			153					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.458C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.419794	0.25552	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.52983	0.64;0.64	1.05	1.05	0.20165	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.50786	0.1636	L	0.42581	1.335	0.09310	N	1	D	0.59357	0.985	P	0.59703	0.862	T	0.33777	-0.9855	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	153	Q6S8J3	POTEE_HUMAN	H	153	ENSP00000439189:P153H;ENSP00000443049:P153H	ENSP00000439189:P153H	P	+	2	0	AC131180.1	131692903	0.000000	0.05858	0.002000	0.10522	0.564000	0.35744	0.298000	0.19120	0.878000	0.35920	0.162000	0.16502	CCC		0.577	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	153	6	153	---	---	---	---	A	131976433	C	A	131976433	3	1	141	1	0	0	0	0	1	0	0	0	12264	623	22	1	460	1	POTEE	2	131976433	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	36160831	131976433	111222940	14	6449										
TTN	7273	broad.mit.edu	37	chr2	179413531	179413531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	caatgaagaggcgaatactgGccccagctctaacaacatga	9	11	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.chr2:179413531G>T	ENST00000591111.1	-	289	88123	c.87899C>A	c.(87898-87900)gCc>gAc	p.A29300D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30941D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D			Q8WZ42	TITIN_HUMAN	titin	29300	Ig-like 134.				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)			GCGAATACTGGCCCCAGCTCT	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.(92821-92823)gCc>gAc		titin							126	120	122					2																	179413531		1962	4145	6107	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413531G>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.87899C>A	2.37:g.179413531G>T	ENSP00000465570:p.Ala29300Asp		Somatic				TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29300D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.A30941D	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93046	-			29300			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	Missense_Mutation	SNP	ENST00000591111.1	37	c.92822C>A		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581228	0.46006	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.25	4.36	0.52297	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	0.28896	0.0717	N	0.15975	0.35	0.37448	D	0.914695	B;B;P;B	0.38335	0.317;0.317;0.627;0.317	B;B;B;B	0.42112	0.376;0.376;0.376;0.376	T	0.39603	-0.9606	9	0.87932	D	0	.	14.5713	0.68213	0.0719:0.0:0.9281:0.0	.	21876;22001;22068;29300	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	28373;21876;22068;22001;21873	ENSP00000343764:A28373D;ENSP00000434586:A21876D;ENSP00000340554:A22068D;ENSP00000352154:A22001D	ENSP00000340554:A22068D	A	-	2	0	TTN	179121777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.806000	0.62569	1.314000	0.45095	0.563000	0.77884	GCC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	69	4	69	---	---	---	---	T	179413531	G	T	179413531	3	4	141	1	0	0	0	0	1	0	0	0	16732	1203	42	3	15253	3	TTN	2	179413531	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	47437098	179413531	63785842	15	6450										
TTN	7273	broad.mit.edu	37	chr2	179647700	179647700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tttcgatttggtagtcttccCtgtaccatgtcactgtcggg	10	10	2	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.chr2:179647700C>A	ENST00000591111.1	-	18	3157	c.2933G>T	c.(2932-2934)aGg>aTg	p.R978M	TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000589042.1_Missense_Mutation_p.R978M|TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M			Q8WZ42	TITIN_HUMAN	titin	32531	Ig-like 3.				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)			GTAGTCTTCCCTGTACCATGT	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.(2932-2934)aGg>aTg		titin							89	91	90					2																	179647700		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647700C>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.2933G>T	2.37:g.179647700C>A	ENSP00000465570:p.Arg978Met		Somatic				TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000591111.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M	p.R978M	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	3157	-			978			Ig-like 3.		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.2933G>T		.	.	.	.	.	.	.	.	.	.	C	17.41	3.381608	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86682	0.5991	M	0.83012	2.62	0.38974	D	0.958816	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	0.87462	0.2408	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	932;932;932;978;978	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	978;932;932;932;932;978	ENSP00000343764:R978M;ENSP00000434586:R932M;ENSP00000340554:R932M;ENSP00000352154:R932M;ENSP00000354117:R978M	ENSP00000340554:R932M	R	-	2	0	TTN	179355945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	AGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	82	5	82	---	---	---	---	A	179647700	C	A	179647700	3	1	141	1	0	0	0	0	1	0	0	0	16732	681	24	1	108435	1	TTN	2	179647700	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	234169	179647700	63551673	16	6451										
OBFC2A	64859	broad.mit.edu	37	chr2	192549021	192549021	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acaggtacatttggaccagtGggtaagattttgtttgtgtg	13	4	0	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.chr2:192549021G>T	ENST00000425611.2	+	5	527	c.444G>T	c.(442-444)gtG>gtT	p.V148V	NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000410026.2_Splice_Site_p.V68V	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	148					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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										TTGGACCAGTGGGTAAGATTT	0.333																																						ENST00000410026.2																			0											c.(202-204)gtG>gtT		nucleic acid binding protein 1							159	170	166					2																	192549021		2203	4300	6503	SO:0001630	splice_region_variant	64859							g.chr2:192549021G>T	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"single-stranded DNA-binding protein 2", "sensor of single-strand DNA complex subunit B2"	612103	"oligonucleotide/oligosaccharide-binding fold containing 2A"	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.445+1G>T	2.37:g.192549021G>T			Somatic				NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000425611.2_Splice_Site_p.V148V	p.V68V	NM_001254736.1	NP_001241665.1	WXS	Illumina GAIIx	Phase_I					5	459	+								Q658Y8|Q9H5X6	Splice_Site	SNP	ENST00000425611.2	37	c.204G>T	CCDS33352.1																																																																																				0.333	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837	Silent	6	100	6	100	---	---	---	---	T	192549021	G	T	192549021	5	4	141	1	0	0	0	0	0	0	1	0	10808	1362	47	1	462	1	OBFC2A	2	192549021	Splice_Site	SNP	G	TCGA-G9-6377-01A-11D-1961-08	12901321	192549021	50650352	17	6452										
FN1	2335	broad.mit.edu	37	chr2	216230308	216230308	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cattttctccctgacggtccCacttctctccaatcttgtag	5	15	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.chr2:216230308C>A	ENST00000359671.1	-	42	7056	c.6791G>T	c.(6790-6792)tGg>tTg	p.W2264L	FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L|FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000354785.4_Missense_Mutation_p.W2355L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L			P02751	FINC_HUMAN	fibronectin 1	2264	Fibrin-binding 2.|Fibronectin type-I 11. {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)	CTGACGGTCCCACTTCTCTCC	0.458																																						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.(7063-7065)tGg>tTg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						222	188	199					2																	216230308		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.chr2:216230308C>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.6791G>T	2.37:g.216230308C>A	ENSP00000352696:p.Trp2264Leu		Somatic				FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000359671.1_Missense_Mutation_p.W2264L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L	p.W2355L			WXS	Illumina GAIIx	Phase_I	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)	43	7433	-		Renal(323;0.127)	2264					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.7064G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.288345	0.95517	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;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;-0.74;-0.74;-0.74	6.02	6.02	0.97574	Fibronectin, type I (4);Complement control module (1);	0.000000	0.64402	D	0.000003	D	0.86867	0.6036	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;1.0;0.999;0.998;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.988;0.998;0.999;0.999;0.999;0.999;0.992;0.999;0.998;0.999	D	0.85046	0.0926	10	0.45353	T	0.12	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	2145;2324;2054;2174;2208;2233;2265;2118;2143;2355;2264	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	L	2118;2324;2233;2054;2355;2265;2264;2089;2062;2208;2143;2145;2174;981	ENSP00000394423:W2118L;ENSP00000323534:W2324L;ENSP00000338200:W2233L;ENSP00000350534:W2054L;ENSP00000346839:W2355L;ENSP00000352696:W2264L;ENSP00000265312:W2089L;ENSP00000273049:W2062L;ENSP00000410422:W2208L;ENSP00000415018:W2143L;ENSP00000399538:W2145L;ENSP00000348285:W2174L;ENSP00000416139:W981L	ENSP00000265313:W2265L	W	-	2	0	FN1	215938553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	TGG		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	112	6	112	---	---	---	---	A	216230308	C	A	216230308	3	1	141	1	0	0	0	0	1	0	0	0	5962	595	21	1	385	1	FN1	2	216230308	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	23681287	216230308	26969065	18	6453										
CHL1	10752	broad.mit.edu	37	chr3	401998	401998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gctggtgatgttgtcttcccCagggaaatcagttttaccaa	10	9	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.chr3:401998C>A	ENST00000256509.2	+	12	1839	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	CHL1_ENST00000397491.2_Silent_p.P383P	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	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)	p.P399P(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)		TTGTCTTCCCCAGGGAAATCA	0.373																																						ENST00000256509.2																			1	Substitution - coding silent(1)	p.P399P(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.(1195-1197)ccC>ccA		cell adhesion molecule L1-like							165	158	160					3																	401998		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:401998C>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.1197C>A	3.37:g.401998C>A			Somatic				CHL1_ENST00000397491.2_Silent_p.P383P	p.P399P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	WXS	Illumina GAIIx	Phase_I	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)	12	1839	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	383			Ig-like C2-type 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.1197C>A	CCDS2556.1																																																																																				0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		6	117	6	117	---	---	---	---	A	401998	C	A	401998	2	1	141	1	0	0	0	0	0	0	0	1	3349	581	21	1		1	CHL1	3	401998	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		401998	197620432	19	6454										
OXTR	5021	broad.mit.edu	37	chr3	8794680	8794680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gggtcacgccgtggatggctGggagcagctcctctggctgg	18	11	2	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.chr3:8794680G>T	ENST00000316793.3	-	4	1777	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	385					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|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 uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GTGGATGGCTGGGAGCAGCTC	0.622																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(1153-1155)Cag>Aag		oxytocin receptor	Carbetocin(DB01282)						36	31	33					3																	8794680		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794680G>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.1153C>A	3.37:g.8794680G>T	ENSP00000324270:p.Gln385Lys		Somatic				CAV3_ENST00000472766.1_Intron	p.Q385K	NM_000916.3	NP_000907.2	WXS	Illumina GAIIx	Phase_I	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1777	-			385					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.1153C>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680221	0.68042	.	.	ENSG00000180914	ENST00000316793	T	0.59906	0.23	4.85	4.85	0.62838	.	0.250926	0.34507	N	0.003913	T	0.70307	0.3209	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.65899	-0.6056	10	0.09590	T	0.72	-24.9252	15.5347	0.75993	0.0:0.0:1.0:0.0	.	385	P30559	OXYR_HUMAN	K	385	ENSP00000324270:Q385K	ENSP00000324270:Q385K	Q	-	1	0	OXTR	8769680	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	7.624000	0.83124	2.514000	0.84764	0.655000	0.94253	CAG		0.622	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			4	42	4	42	---	---	---	---	T	8794680	G	T	8794680	3	4	141	1	0	0	0	0	1	0	0	0	11338	1357	47	1	20	1	OXTR	3	8794680	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	8392682	8794680	189227750	20	6455										
OSBPL10	114884	broad.mit.edu	37	chr3	31703609	31703609	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aagtatacccagccatcgccCtgcaagagaagaaaggaggc	11	11	0	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.chr3:31703609C>A	ENST00000396556.2	-	12	2373		c.e12-1		OSBPL10_ENST00000438237.2_Splice_Site	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10						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)		AGCCATCGCCCTGCAAGAGAA	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.e12-1		oxysterol binding protein-like 10							117	111	113					3																	31703609		2203	4300	6503	SO:0001630	splice_region_variant	114884				lipid transport		lipid binding	g.chr3:31703609C>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.2251-1G>T	3.37:g.31703609C>A			Somatic				OSBPL10_ENST00000438237.2_Splice_Site		NM_017784.4	NP_060254.2	WXS	Illumina GAIIx	Phase_I	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	12	2373	-								B4E212|Q9BTU5	Splice_Site	SNP	ENST00000396556.2	37		CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807084	0.70797	.	.	ENSG00000144645	ENST00000396556;ENST00000438237	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4867	0.95032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL10	31678613	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.234000	0.78134	2.691000	0.91804	0.655000	0.94253	.		0.488	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		Intron	7	89	7	89	---	---	---	---	A	31703609	C	A	31703609	5	1	141	1	0	0	0	0	0	0	1	0	11275	695	24	1	48	1	OSBPL10	3	31703609	Splice_Site	SNP	C	TCGA-G9-6377-01A-11D-1961-08	22908929	31703609	166318821	21	6456										
DLEC1	9940	broad.mit.edu	37	chr3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgccttcggtgtttgagctgGccccgggacatgctatatta	12	10	0	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.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_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		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T	p.A547T			WXS	Illumina GAIIx	Phase_I	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	5	138	---	---	---	---	A	38129853	G	A	38129853	3	1	141	1	0	0	0	0	1	0	0	0	4552	1203	42	2	1677	2	DLEC1	3	38129853	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	6426244	38129853	159892577	22	6457										
RBM5	10181	broad.mit.edu	37	chr3	50150853	50150853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gacccagcagtacctttactGggatggggaaaaagagacct	12	9	0	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.chr3:50150853G>T	ENST00000347869.3	+	18	1668	c.1493G>T	c.(1492-1494)tGg>tTg	p.W498L	RBM5_ENST00000441812.2_3'UTR|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	498	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				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)		TACCTTTACTGGGATGGGGAA	0.448																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(1492-1494)tGg>tTg		RNA binding motif protein 5							70	81	77					3																	50150853		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.chr3:50150853G>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.1493G>T	3.37:g.50150853G>T	ENSP00000343054:p.Trp498Leu		Somatic				RBM5_ENST00000441812.2_3'UTR	p.W498L	NM_005778.3	NP_005769.1	WXS	Illumina GAIIx	Phase_I	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	18	1668	+			498			Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.1493G>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	34	5.328964	0.95733	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.19806	2.12	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.982;0.998	T	0.57075	-0.7873	10	0.52906	T	0.07	-6.4387	19.5353	0.95251	0.0:0.0:1.0:0.0	.	188;498	Q59HE6;P52756	.;RBM5_HUMAN	L	498;497;188	ENSP00000343054:W498L	ENSP00000343054:W498L	W	+	2	0	RBM5	50125857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.608000	0.88229	0.563000	0.77884	TGG		0.448	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		5	74	5	74	---	---	---	---	T	50150853	G	T	50150853	3	4	141	1	0	0	0	0	1	0	0	0	13143	1357	47	1	1559	1	RBM5	3	50150853	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	12021000	50150853	147871577	23	6458										
ROBO1	6091	broad.mit.edu	37	chr3	78656036	78656036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tccatccaacacttctctccCcttgtaactgcttccttttc	2	17	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.chr3:78656036C>A	ENST00000464233.1	-	29	4704	c.4591G>T	c.(4591-4593)Ggg>Tgg	p.G1531W	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000436010.2_Missense_Mutation_p.G1492W	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1531					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)		ACTTCTCTCCCCTTGTAACTG	0.483																																						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.(4474-4476)Ggg>Tgg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							492	468	476					3																	78656036		2049	4211	6260	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.chr3:78656036C>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.4591G>T	3.37:g.78656036C>A	ENSP00000420321:p.Gly1531Trp		Somatic				ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1531W|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W	p.G1492W			WXS	Illumina GAIIx	Phase_I	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)	27	5471	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1531					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4474G>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431318	0.62844	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60797	0.21;0.18;0.19;0.16	5.38	4.51	0.55191	.	0.159963	0.56097	D	0.000034	T	0.61400	0.2344	L	0.27053	0.805	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.997;0.979;0.997;0.97;0.999	D;P;P;P;D	0.65684	0.909;0.604;0.903;0.599;0.937	T	0.59852	-0.7376	9	.	.	.	.	14.131	0.65253	0.0:0.9278:0.0:0.0722	.	1495;1531;1486;1431;1492	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	W	1492;1486;1531;1486;1431;1535	ENSP00000406043:G1492W;ENSP00000420321:G1531W;ENSP00000420637:G1486W;ENSP00000417992:G1431W	.	G	-	1	0	ROBO1	78738726	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.612000	0.67681	1.404000	0.46819	0.491000	0.48974	GGG		0.483	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		12	522	12	522	---	---	---	---	A	78656036	C	A	78656036	3	1	141	1	0	0	0	0	1	0	0	0	13513	623	22	1	376	1	ROBO1	3	78656036	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	28505183	78656036	119366394	24	6459										
DNAJC13	23317	broad.mit.edu	37	chr3	132165395	132165395	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccttagaagtaacaaatcagGtaatcctgttagaagctgtt	8	7	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.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			Somatic				DNAJC13_ENST00000486798.1_Splice_Site		NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	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	17	28	---	---	---	---	T	132165395	G	T	132165395	5	4	141	1	0	0	0	0	0	0	1	0	4632	1275	44	3	151	3	DNAJC13	3	132165395	Splice_Site	SNP	G	TCGA-G9-6377-01A-11D-1961-08	53509359	132165395	65857035	25	6460										
PLCH1	23007	broad.mit.edu	37	chr3	155241768	155241768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccccttcctctgcatcatccCcaaggtgataaggcaacttc	6	16	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.chr3:155241768C>A	ENST00000340059.7	-	10	1351	c.1352G>T	c.(1351-1353)gGg>gTg	p.G451V	PLCH1_ENST00000460012.1_Missense_Mutation_p.G433V|PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	451					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)			TGCATCATCCCCAAGGTGATA	0.413																																						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.(1297-1299)gGg>gTg		phospholipase C, eta 1							234	216	222					3																	155241768		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.chr3:155241768C>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.1352G>T	3.37:g.155241768C>A	ENSP00000345988:p.Gly451Val		Somatic				PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V	p.G433V			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1655	-			451			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1298G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304849	0.81247	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.128409	0.52532	D	0.000073	T	0.60741	0.2292	L	0.57536	1.79	0.80722	D	1	D;P;P	0.54772	0.968;0.945;0.534	P;P;B	0.59221	0.854;0.719;0.211	T	0.59878	-0.7371	10	0.46703	T	0.11	.	14.9046	0.70709	0.0:0.8571:0.1428:0.0	.	433;451;451	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	V	451;433;451;451;433;433	ENSP00000419100:G451V;ENSP00000417502:G433V;ENSP00000402759:G451V;ENSP00000345988:G451V;ENSP00000335469:G433V;ENSP00000412977:G433V	ENSP00000335469:G433V	G	-	2	0	PLCH1	156724462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.618000	0.54188	2.563000	0.86464	0.563000	0.77884	GGG		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	203	7	203	---	---	---	---	A	155241768	C	A	155241768	3	1	141	1	0	0	0	0	1	0	0	0	12037	623	22	1	3800	1	PLCH1	3	155241768	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	23076373	155241768	42780662	26	6461										
MUC4	4585	broad.mit.edu	37	chr3	195491914	195491914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cagccttcacgaaactctccCcagggcccgtagctgcagca	9	17	2	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.chr3:195491914C>A	ENST00000346145.4	-	9	1209	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C|MUC4_ENST00000463781.3_Missense_Mutation_p.W4626C|MUC4_ENST00000349607.4_Missense_Mutation_p.W339C	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1383					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)		GAAACTCTCCCCAGGGCCCGT	0.637																																						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.(13876-13878)tgG>tgT		mucin 4, cell surface associated							59	58	58					3																	195491914		2203	4300	6503	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.chr3:195491914C>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.1170G>T	3.37:g.195491914C>A	ENSP00000304207:p.Trp390Cys		Somatic				MUC4_ENST00000349607.4_Missense_Mutation_p.W339C|MUC4_ENST00000346145.4_Missense_Mutation_p.W390C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C	p.W4626C	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	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)	10	14337	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1383					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.13878G>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099466	0.37048	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.39406	1.08;1.44;1.41;1.43	4.42	4.42	0.53409	AMOP (2);	0.298816	0.23664	N	0.045800	T	0.61185	0.2327	M	0.65975	2.015	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D	0.79108	0.99;0.986;0.927;0.951;0.992;0.992;0.963	T	0.59994	-0.7349	10	0.39692	T	0.17	-10.0157	14.9334	0.70935	0.0:1.0:0.0:0.0	.	4498;1383;339;390;4626;4574;1331	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	C	339;390;4626;4574	ENSP00000338109:W339C;ENSP00000304207:W390C;ENSP00000417498:W4626C;ENSP00000420243:W4574C	ENSP00000304207:W390C	W	-	3	0	MUC4	196977585	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	2.016000	0.40971	2.452000	0.82932	0.558000	0.71614	TGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		5	55	5	55	---	---	---	---	A	195491914	C	A	195491914	3	1	141	1	0	0	0	0	1	0	0	0	9978	624	22	1	2424	1	MUC4	3	195491914	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	40250146	195491914	2530516	27	6462										
EVC	2121	broad.mit.edu	37	chr4	5806552	5806552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gtggcgctcatgagacctccCaggcggtccaccagaggtga	14	13	1	3	rs561852174		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.chr4:5806552C>A	ENST00000264956.6	+	17	2729	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	EVC_ENST00000382674.2_Missense_Mutation_p.Q849K	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	849					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)				TGAGACCTCCCAGGCGGTCCA	0.567																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(2545-2547)Cag>Aag		Ellis van Creveld syndrome							85	83	84					4																	5806552		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5806552C>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.2545C>A	4.37:g.5806552C>A	ENSP00000264956:p.Gln849Lys		Somatic				EVC_ENST00000264956.6_Missense_Mutation_p.Q849K	p.Q849K			WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			17	2729	+		Myeloproliferative disorder(84;0.117)	849						Missense_Mutation	SNP	ENST00000264956.6	37	c.2545C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	7.819	0.717290	0.15372	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.52295	0.67;0.67	5.01	-2.22	0.06952	.	1.966720	0.02312	N	0.072199	T	0.31009	0.0783	N	0.22421	0.69	0.18873	N	0.999987	B	0.21606	0.058	B	0.19148	0.024	T	0.14643	-1.0465	10	0.10111	T	0.7	.	8.5373	0.33371	0.3555:0.3239:0.3206:0.0	.	849	P57679	EVC_HUMAN	K	849	ENSP00000264956:Q849K;ENSP00000372120:Q849K	ENSP00000264956:Q849K	Q	+	1	0	EVC	5857453	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.325000	0.07976	-0.324000	0.08589	0.655000	0.94253	CAG		0.567	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			5	86	5	86	---	---	---	---	A	5806552	C	A	5806552	3	1	141	1	0	0	0	0	1	0	0	0	5285	595	21	1	2611	1	EVC	4	5806552	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		5806552	185347724	28	6463										
FBXL5	26234	broad.mit.edu	37	chr4	15640193	15640193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gtcgctcttcagcatgattcCataggctaagacctctaagg	9	11	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.chr4:15640193C>A	ENST00000341285.3	-	4	645	c.521G>T	c.(520-522)tGg>tTg	p.W174L	FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L|FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	174					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCATGATTCCATAGGCTAAG	0.338																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(520-522)tGg>tTg		F-box and leucine-rich repeat protein 5							83	76	78					4																	15640193		2202	4300	6502	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15640193C>A	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.521G>T	4.37:g.15640193C>A	ENSP00000344866:p.Trp174Leu		Somatic				FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L|FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L	p.W174L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	WXS	Illumina GAIIx	Phase_I	Q9UKA1	FBXL5_HUMAN			4	645	-			174					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.521G>T	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.275797|5.275797	0.95459|0.95459	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066;ENST00000503196;ENST00000509314	.|T;T;T	.|0.35236	.|1.39;1.39;1.32	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52597|0.52597	0.1744|0.1744	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.80764	.|0.994;0.986	T|T	0.51888|0.51888	-0.8648|-0.8648	5|10	.|0.66056	.|D	.|0.02	-7.738|-7.738	20.0371|20.0371	0.97565|0.97565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;174	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	I|L	94|174;157;48;136;119;119	.|ENSP00000344866:W174L;ENSP00000408679:W157L;ENSP00000371795:W48L	.|ENSP00000344866:W174L	M|W	-|-	3|2	0|0	FBXL5|FBXL5	15249291|15249291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.481000|7.481000	0.81124|0.81124	2.736000|2.736000	0.93811|0.93811	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.338	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			4	49	4	49	---	---	---	---	A	15640193	C	A	15640193	3	1	141	1	0	0	0	0	1	0	0	0	5722	595	21	1	1586	1	FBXL5	4	15640193	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	9833641	15640193	175514083	29	6464										
SLIT2	9353	broad.mit.edu	37	chr4	20255579	20255579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgtcacgggctggcgctgcgCagcgtgcccaggaatatccc	14	14	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.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R|SLIT2_ENST00000273739.5_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			Somatic				SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	p.R47R	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	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	8	129	---	---	---	---	A	20255579	C	A	20255579	2	1	141	1	0	0	0	0	0	0	0	1	14740	697	25	3		3	SLIT2	4	20255579	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	4615386	20255579	170898697	30	6465										
KDR	3791	broad.mit.edu	37	chr4	55979609	55979609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cttcatctcactcccagactGggtttttaggtctcggttta	8	11	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.chr4:55979609G>T	ENST00000263923.4	-	7	1133	c.838C>A	c.(838-840)Cag>Aag	p.Q280K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	280	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)	CTCCCAGACTGGGTTTTTAGG	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.(838-840)Cag>Aag		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						124	121	122					4																	55979609		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.chr4:55979609G>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.838C>A	4.37:g.55979609G>T	ENSP00000263923:p.Gln280Lys	TSP Lung(20;0.16)	Somatic					p.Q280K	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1133	-	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)		280			Ig-like C2-type 3.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.838C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	6.486	0.457803	0.12342	.	.	ENSG00000128052	ENST00000263923	T	0.27402	1.67	5.47	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.955087	0.08700	N	0.906666	T	0.11239	0.0274	N	0.04959	-0.14	0.09310	N	1	B;B	0.24317	0.101;0.001	B;B	0.14023	0.01;0.005	T	0.32851	-0.9891	10	0.02654	T	1	.	3.7588	0.08596	0.1435:0.1245:0.5887:0.1434	.	280;280	P35968-2;P35968	.;VGFR2_HUMAN	K	280	ENSP00000263923:Q280K	ENSP00000263923:Q280K	Q	-	1	0	KDR	55674366	0.032000	0.19561	0.000000	0.03702	0.507000	0.33981	1.268000	0.33062	0.273000	0.22049	0.563000	0.77884	CAG		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	78	5	78	---	---	---	---	T	55979609	G	T	55979609	3	4	141	1	0	0	0	0	1	0	0	0	8139	1357	47	1	3328	1	KDR	4	55979609	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	35724030	55979609	135174667	31	6466										
SYNPO2	171024	broad.mit.edu	37	chr4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttctacatctccttgggtatAccagcctacttatagttact	5	11	2	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.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		Somatic				SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	p.Y1108C	NM_133477.2	NP_597734.2	WXS	Illumina GAIIx	Phase_I	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	22	56	---	---	---	---	G	119978626	A	G	119978626	3	3	141	1	0	0	0	0	1	0	0	0	15454	391	14	2	3453	2	SYNPO2	4	119978626	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	63999017	119978626	71175650	32	6467										
FAT4	79633	broad.mit.edu	37	chr4	126412062	126412062	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cactcagcatgcccaactccCaaccctctgtctcgacacag	5	19	3	0	rs558572205		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.chr4:126412062C>A	ENST00000394329.3	+	17	14098	c.14085C>A	c.(14083-14085)ccC>ccA	p.P4695P	FAT4_ENST00000335110.5_Silent_p.P2936P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4695					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						GCCCAACTCCCAACCCTCTGT	0.498																																						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.(14083-14085)ccC>ccA		FAT atypical cadherin 4							121	128	126					4																	126412062		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412062C>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.14085C>A	4.37:g.126412062C>A			Somatic				FAT4_ENST00000335110.5_Silent_p.P2936P	p.P4695P	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			17	14098	+			4695					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.14085C>A	CCDS3732.3																																																																																				0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	127	7	127	---	---	---	---	A	126412062	C	A	126412062	2	1	141	1	0	0	0	0	0	0	0	1	5692	581	21	1		1	FAT4	4	126412062	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	6433436	126412062	64742214	33	6468										
DNAH5	1767	broad.mit.edu	37	chr5	13923454	13923454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gatgaagaacacacatacccCagtaagagccacatcgtttc	7	12	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.chr5:13923454C>A	ENST00000265104.4	-	4	477	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	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)	p.G125W(1)		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)					ACACATACCCCAGTAAGAGCC	0.468									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.G125W(1)	lung(1)	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.(373-375)Ggg>Tgg		dynein, axonemal, heavy chain 5							238	225	230					5																	13923454		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.chr5:13923454C>A	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.373G>T	5.37:g.13923454C>A	ENSP00000265104:p.Gly125Trp		Somatic					p.G125W	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			4	477	-	Lung NSC(4;0.00476)		125			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.373G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047042	0.55110	.	.	ENSG00000039139	ENST00000265104	T	0.26957	1.7	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63752	-0.6566	10	0.87932	D	0	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	125	Q8TE73	DYH5_HUMAN	W	125	ENSP00000265104:G125W	ENSP00000265104:G125W	G	-	1	0	DNAH5	13976454	1.000000	0.71417	0.160000	0.22671	0.085000	0.17905	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GGG		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	220	8	220	---	---	---	---	A	13923454	C	A	13923454	3	1	141	1	0	0	0	0	1	0	0	0	4604	594	21	1	13805	1	DNAH5	5	13923454	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		13923454	166991806	34	6469										
ITGA2	3673	broad.mit.edu	37	chr5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	attgctgatgtagctatagaAgcttcattcacaccagaaaa	7	8	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.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		Somatic					p.E658D	NM_002203.3	NP_002194.2	WXS	Illumina GAIIx	Phase_I	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	3	38	---	---	---	---	C	52362978	A	C	52362978	3	2	141	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	38439524	52362978	128552282	35	6470										
PSD2	84249	broad.mit.edu	37	chr5	139215340	139215340	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tccatcaagaatgaaaagctGgaatgggccatgtgagtagt	12	6	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.chr5:139215340G>T	ENST00000274710.3	+	9	1597	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	464					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)			ATGAAAAGCTGGAATGGGCCA	0.532																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1390-1392)ctG>ctT		pleckstrin and Sec7 domain containing 2							245	246	246					5																	139215340		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.chr5:139215340G>T	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.1392G>T	5.37:g.139215340G>T			Somatic					p.L464L	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1597	+			464					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.1392G>T	CCDS4216.1																																																																																				0.532	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		9	328	9	328	---	---	---	---	T	139215340	G	T	139215340	2	4	141	1	0	0	0	0	0	0	0	1	12647	1335	47	1		1	PSD2	5	139215340	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	86852362	139215340	41699920	36	6471										
PCDHGC3	5098	broad.mit.edu	37	chr5	140857734	140857734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cccctctggctctgccccccGggagcagaaaaaaaatctca	8	16	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.chr5:140857734G>T	ENST00000308177.3	+	1	2155	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	684	Cadherin 6. {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)			TCTGCCCCCCGGGAGCAGAAA	0.507											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2050-2052)cGg>cTg									97	123	114					5																	140857734		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140857734G>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.2051G>T	5.37:g.140857734G>T	ENSP00000312070:p.Arg684Leu		Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	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|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	p.R684L	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2155	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.2051G>T	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136701	0.21123	.	.	ENSG00000240184	ENST00000308177	T	0.47528	0.84	5.55	2.62	0.31277	Cadherin (1);	.	.	.	.	T	0.25158	0.0611	N	0.14661	0.345	0.09310	N	1	B;B	0.25743	0.133;0.095	B;B	0.19391	0.018;0.025	T	0.13335	-1.0513	9	0.29301	T	0.29	.	3.6079	0.08049	0.339:0.1887:0.4723:0.0	.	684;684	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	L	684	ENSP00000312070:R684L	ENSP00000312070:R684L	R	+	2	0	PCDHGC3	140837918	0.000000	0.05858	0.674000	0.29902	0.983000	0.72400	0.264000	0.18497	0.899000	0.36444	-0.150000	0.13652	CGG		0.507	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		6	229	6	229	---	---	---	---	T	140857734	G	T	140857734	3	4	141	1	0	0	0	0	1	0	0	0	11569	1116	39	1	2053	1	PCDHGC3	5	140857734	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	1642394	140857734	40057526	37	6472										
OR14J1	442191	broad.mit.edu	37	chr6	29275320	29275320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gatacctccaacactcaatcCagtcatttatagcttacgga	5	12	2	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.chr6:29275320C>A	ENST00000377160.2	+	1	918	c.854C>A	c.(853-855)cCa>cAa	p.P285Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACACTCAATCCAGTCATTTAT	0.443																																						ENST00000377160.2																			1	Substitution - Missense(1)	p.P285Q(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(853-855)cCa>cAa		olfactory receptor, family 14, subfamily J, member 1							128	130	129					6																	29275320		1511	2708	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275320C>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"GPCR / Class A : Olfactory receptors"	13971	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily U, member 1"	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.854C>A	6.37:g.29275320C>A	ENSP00000366365:p.Pro285Gln		Somatic					p.P285Q	NM_030946.1	NP_112208.1	WXS	Illumina GAIIx	Phase_I	Q9UGF5	O14J1_HUMAN			1	918	+			285					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.854C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775536	0.90195	.	.	ENSG00000204695	ENST00000377160	T	0.64260	-0.09	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000744	T	0.75376	0.3841	M	0.69823	2.125	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77822	-0.2445	10	0.87932	D	0	.	18.1302	0.89599	0.0:1.0:0.0:0.0	.	285	Q9UGF5	O14J1_HUMAN	Q	285	ENSP00000366365:P285Q	ENSP00000366365:P285Q	P	+	2	0	OR14J1	29383299	0.998000	0.40836	0.249000	0.24280	0.343000	0.28985	4.389000	0.59639	2.680000	0.91292	0.650000	0.86243	CCA		0.443	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			6	126	6	126	---	---	---	---	A	29275320	C	A	29275320	3	1	141	1	0	0	0	0	1	0	0	0	10948	594	21	1	856	1	OR14J1	6	29275320	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		29275320	141839747	38	6473										
BAT2	7916	broad.mit.edu	37	chr6	31605230	31605230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gcctgtcccctaggcctcccCaccagatgccctgcgctgga	10	19	0	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.chr6:31605230C>A	ENST00000376033.2	+	31	6575	c.6341C>A	c.(6340-6342)cCa>cAa	p.P2114Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2114						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						TAGGCCTCCCCACCAGATGCC	0.612																																						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.(6340-6342)cCa>cAa		proline-rich coiled-coil 2A							159	184	175					6																	31605230		1508	2708	4216	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31605230C>A	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.6341C>A	6.37:g.31605230C>A	ENSP00000365201:p.Pro2114Gln		Somatic				PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	p.P2114Q	NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			31	6575	+			2114					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6341C>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299051	0.23650	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01787	4.64;4.64	5.93	5.93	0.95920	.	0.118235	0.38959	N	0.001518	T	0.01156	0.0038	L	0.29908	0.895	0.43657	D	0.996077	P	0.40050	0.7	B	0.38985	0.287	T	0.65780	-0.6085	10	0.87932	D	0	-0.5873	15.841	0.78845	0.0:1.0:0.0:0.0	.	2114	P48634	PRC2A_HUMAN	Q	2106;2095;2114;2114;1339	ENSP00000365175:P2114Q;ENSP00000365201:P2114Q	ENSP00000365175:P2114Q	P	+	2	0	PRRC2A	31713209	0.829000	0.29322	0.991000	0.47740	0.633000	0.38033	3.535000	0.53575	2.814000	0.96858	0.655000	0.94253	CCA		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	246	8	246	---	---	---	---	A	31605230	C	A	31605230	3	1	141	1	0	0	0	0	1	0	0	0	1319	594	21	1	6459	1	BAT2	6	31605230	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	2329910	31605230	139509837	39	6474										
XPO5	57510	broad.mit.edu	37	chr6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttaatgtttgctggatgtccCttcttctttgagggggaagt	12	6	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.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					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)			CTGGATGTCCCTTCTTCTTTG	0.413																																						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.(526-528)aGg>aTg		exportin 5							182	178	179					6																	43538333		1888	4118	6006	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538333C>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.527G>T	6.37:g.43538333C>A	ENSP00000265351:p.Arg176Met		Somatic					p.R176M	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	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)		5	737	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		176					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.527G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263879	0.95399	.	.	ENSG00000124571	ENST00000265351	T	0.46819	0.86	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.58891	-0.7556	10	0.41790	T	0.15	-17.2057	20.3668	0.98882	0.0:1.0:0.0:0.0	.	176	Q9HAV4	XPO5_HUMAN	M	176	ENSP00000265351:R176M	ENSP00000265351:R176M	R	-	2	0	XPO5	43646311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	AGG		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		7	201	7	201	---	---	---	---	A	43538333	C	A	43538333	3	1	141	1	0	0	0	0	1	0	0	0	17444	681	24	1	3199	1	XPO5	6	43538333	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	11933103	43538333	127576734	40	6475										
MEP1A	4224	broad.mit.edu	37	chr6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	caatacaccctatgattatgAgtctttgatgcactaccagc	6	11	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.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		Somatic					p.E209A	NM_005588.2	NP_005579.2	WXS	Illumina GAIIx	Phase_I	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	5	85	---	---	---	---	C	46793078	A	C	46793078	3	2	141	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	3254745	46793078	124321989	41	6476										
UTRN	7402	broad.mit.edu	37	chr6	144747493	144747493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgagaagatcctgctcagctGggtgcgtcagaccaccaggc	13	12	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.chr6:144747493G>T	ENST00000367545.3	+	6	476	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	159	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CTGCTCAGCTGGGTGCGTCAG	0.527																																						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.(475-477)tGg>tTg		utrophin							184	141	156					6																	144747493		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.chr6:144747493G>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.476G>T	6.37:g.144747493G>T	ENSP00000356515:p.Trp159Leu		Somatic					p.W159L	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	6	476	+		Ovarian(120;0.218)	159			Actin-binding.|CH 2.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.476G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	35	5.592716	0.96602	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	D	0.99724	-6.54	5.92	5.92	0.95590	Calponin homology domain (5);	0.000000	0.48767	D	0.000177	D	0.99869	0.9938	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96934	0.9683	10	0.87932	D	0	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	159	P46939	UTRO_HUMAN	L	159	ENSP00000356515:W159L	ENSP00000356499:W159L	W	+	2	0	UTRN	144789186	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.810000	0.99221	2.809000	0.96659	0.467000	0.42956	TGG		0.527	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			6	94	6	94	---	---	---	---	T	144747493	G	T	144747493	3	4	141	1	0	0	0	0	1	0	0	0	17100	1357	47	1	498	1	UTRN	6	144747493	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	97954415	144747493	26367574	42	6477										
PHF10	55274	broad.mit.edu	37	chr6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctggaactgtccggggatgaGagccactgggtaagaactga	15	8	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.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000366780.4_Missense_Mutation_p.L255V|PHF10_ENST00000464779.1_5'Flank	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		Somatic				PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	p.L257V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	WXS	Illumina GAIIx	Phase_I	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	14	169	---	---	---	---	C	170114863	G	C	170114863	3	2	141	1	0	0	0	0	1	0	0	0	11821	942	33	4	751	4	PHF10	6	170114863	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	25367370	170114863	1000204	43	6478										
SPDYE1	285955	broad.mit.edu	37	chr7	44040843	44040843	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aagcaacagcgagtgtcaccCatcctccttgagcaccacaa	7	15	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.chr7:44040843C>A	ENST00000258704.3	+	1	356	c.219C>A	c.(217-219)ccC>ccA	p.P73P	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	73										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAGTGTCACCCATCCTCCTTG	0.552																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(217-219)ccC>ccA		speedy/RINGO cell cycle regulator family member E1							32	26	28					7																	44040843		1389	2353	3742	SO:0001819	synonymous_variant	285955							g.chr7:44040843C>A	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"Speedy homologs"	16408	protein-coding gene	gene with protein product	"Speedy E"		"Williams Beuren syndrome chromosome region 19", "speedy homolog E1 (Xenopus laevis)"	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.219C>A	7.37:g.44040843C>A			Somatic				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	p.P73P	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	WXS	Illumina GAIIx	Phase_I	Q8NFV5	SPDE1_HUMAN			1	356	+			73					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.219C>A	CCDS5475.1																																																																																				0.552	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		4	35	4	35	---	---	---	---	A	44040843	C	A	44040843	2	1	141	1	0	0	0	0	0	0	0	1	15028	581	21	1		1	SPDYE1	7	44040843	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		44040843	115097820	44	6479										
POM121C	100101267	broad.mit.edu	37	chr7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T													0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	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_ENST00000453279.2_Frame_Shift_Ins_p.D272fs|POM121C_ENST00000473168.1_5'UTR			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)ctagacfs		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		Somatic				POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Frame_Shift_Ins_p.D514fs	p.D272fs	NM_001099415.1	NP_001092885	WXS	Illumina GAIIx	Phase_I	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	141	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	31013023	75053866	84084797	45	6480										
SGCE	8910	broad.mit.edu	37	chr7	94214814	94214814	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cagtcagttttctttcttcaGggataccatttacctgcaat	6	10	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.chr7:94214814G>T	ENST00000265735.7	-	11	1421	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000428696.2_Missense_Mutation_p.P440H|SGCE_ENST00000447873.1_Silent_p.P428P	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	437					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	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)			TCTTTCTTCAGGGATACCATT	0.363																																						ENST00000428696.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(1318-1320)cCt>cAt		sarcoglycan, epsilon							239	250	246					7																	94214814		2203	4300	6503	SO:0001819	synonymous_variant	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94214814G>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1311C>A	7.37:g.94214814G>T			Somatic				SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P|SGCE_ENST00000265735.7_Silent_p.P437P	p.P440H	NM_001099400.1	NP_001092870.1	WXS	Illumina GAIIx	Phase_I	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	1318	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		0					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1319C>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744785	0.69418	.	.	ENSG00000127990	ENST00000428696	D	0.98120	-4.73	4.9	4.9	0.64082	.	1.238380	0.05401	N	0.540789	D	0.98912	0.9631	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.95401	0.8490	9	0.87932	D	0	.	16.6053	0.84827	0.0:0.0:1.0:0.0	.	440	E9PF60	.	H	440	ENSP00000397536:P440H	ENSP00000397536:P440H	P	-	2	0	SGCE	94052750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.431000	0.82371	0.655000	0.94253	CCT		0.363	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			11	341	11	341	---	---	---	---	T	94214814	G	T	94214814	2	4	141	1	0	0	0	0	0	0	0	1	14202	1000	35	1		1	SGCE	7	94214814	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	19160948	94214814	64923849	46	6481										
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123537	99123537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acaccgaaaggagcgttcctCaggatccagactttgcagaa	10	11	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.chr7:99123537C>A	ENST00000394170.2	+	6	1125	c.874C>A	c.(874-876)Cag>Aag	p.Q292K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	292					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)					GAGCGTTCCTCAGGATCCAGA	0.498																																						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.(874-876)Cag>Aag		zinc finger with KRAB and SCAN domains 5							106	102	103					7																	99123537		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99123537C>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.874C>A	7.37:g.99123537C>A	ENSP00000377725:p.Gln292Lys		Somatic				ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K	p.Q292K	NM_014569.3	NP_055384.1	WXS	Illumina GAIIx	Phase_I	Q9Y2L8	ZKSC5_HUMAN			6	1125	+	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)		292					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.874C>A	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105624	0.08780	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.29142	1.58;1.58;1.58	4.64	4.64	0.57946	.	0.000000	0.47852	D	0.000214	T	0.30262	0.0759	L	0.55213	1.73	0.09310	N	0.999994	B;B	0.23316	0.083;0.083	B;B	0.24848	0.056;0.035	T	0.12091	-1.0561	10	0.20046	T	0.44	.	15.3963	0.74798	0.0:1.0:0.0:0.0	.	292;292	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	K	292	ENSP00000322872:Q292K;ENSP00000392104:Q292K;ENSP00000377725:Q292K	ENSP00000322872:Q292K	Q	+	1	0	ZKSCAN5	98961473	0.001000	0.12720	0.122000	0.21767	0.137000	0.21094	0.776000	0.26704	2.590000	0.87494	0.655000	0.94253	CAG		0.498	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		6	126	6	126	---	---	---	---	A	99123537	C	A	99123537	3	1	141	1	0	0	0	0	1	0	0	0	17687	827	29	3	892	3	ZKSCAN5	7	99123537	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	4908723	99123537	60015126	47	6482										
SLC12A9	56996	broad.mit.edu	37	chr7	100463781	100463781	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cttggcatagcgcccggctcCggatcttcctgtgcctgggg	14	14	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.chr7:100463781C>A	ENST00000354161.3	+	14	2424	c.2299C>A	c.(2299-2301)Cgg>Agg	p.R767R	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	767					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)					CGCCCGGCTCCGGATCTTCCT	0.706																																						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.(2299-2301)Cgg>Agg		solute carrier family 12, member 9							28	35	33					7																	100463781		2189	4278	6467	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463781C>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.2299C>A	7.37:g.100463781C>A			Somatic					p.R767R	NM_020246.3	NP_064631.2	WXS	Illumina GAIIx	Phase_I	Q9BXP2	S12A9_HUMAN			14	2424	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		767					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.2299C>A	CCDS5707.1																																																																																				0.706	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		5	89	5	89	---	---	---	---	A	100463781	C	A	100463781	2	1	141	1	0	0	0	0	0	0	0	1	14390	643	23	1		1	SLC12A9	7	100463781	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	1340244	100463781	58674882	48	6483										
LAMB1	3912	broad.mit.edu	37	chr7	107580685	107580685	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gtgcagtcagggaagaccccCgagtaccctcgcgtgcactt	12	14	1	1	rs373235081		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.chr7:107580685C>A	ENST00000222399.6	-	25	3740	c.3510G>T	c.(3508-3510)tcG>tcT	p.S1170S	LAMB1_ENST00000393561.1_Silent_p.S1194S|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1170	Laminin EGF-like 13. {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)	p.S1170S(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						GGAAGACCCCCGAGTACCCTC	0.592																																						ENST00000393561.1																			1	Substitution - coding silent(1)	p.S1170S(1)	lung(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.(3580-3582)tcG>tcT		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						123	105	111					7																	107580685		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.chr7:107580685C>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.3510G>T	7.37:g.107580685C>A			Somatic				LAMB1_ENST00000222399.6_Silent_p.S1170S	p.S1194S			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			23	3766	-			1170			Domain II.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3582G>T	CCDS5750.1																																																																																				0.592	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		7	111	7	111	---	---	---	---	A	107580685	C	A	107580685	2	1	141	1	0	0	0	0	0	0	0	1	8610	639	23	1		1	LAMB1	7	107580685	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	7116904	107580685	51557978	49	6484										
TTC26	79989	broad.mit.edu	37	chr7	138824682	138824682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aaattgtaattctgaagtctGggtgaacctagcttgcacct	9	8	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.chr7:138824682G>T	ENST00000464848.1	+	4	361	c.281G>T	c.(280-282)tGg>tTg	p.W94L	TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	94					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						TCTGAAGTCTGGGTGAACCTA	0.378																																						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.(280-282)tGg>tTg		tetratricopeptide repeat domain 26							127	118	121					7																	138824682		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138824682G>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.281G>T	7.37:g.138824682G>T	ENSP00000419279:p.Trp94Leu		Somatic				TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L	p.W94L			WXS	Illumina GAIIx	Phase_I	A0AVF1	TTC26_HUMAN			4	361	+			94					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.281G>T	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228932	0.58777	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T;T	0.61274	0.45;0.45;0.45;0.45;0.45;0.12	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.129925	0.56097	D	0.000028	T	0.69305	0.3096	L	0.46670	1.46	0.80722	D	1	B;D;D;B;D;B;D	0.69078	0.001;0.996;0.957;0.058;0.997;0.002;0.972	B;D;P;B;D;B;P	0.81914	0.0;0.991;0.798;0.063;0.995;0.005;0.681	T	0.60037	-0.7341	10	0.11485	T	0.65	.	19.6789	0.95950	0.0:0.0:1.0:0.0	.	94;63;94;94;94;63;94	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	L	94;94;94;94;94;63	ENSP00000410655:W94L;ENSP00000418788:W94L;ENSP00000443253:W94L;ENSP00000419178:W94L;ENSP00000419279:W94L;ENSP00000339135:W63L	ENSP00000339135:W63L	W	+	2	0	TTC26	138475222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.741000	0.93983	0.655000	0.94253	TGG		0.378	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		5	91	5	91	---	---	---	---	T	138824682	G	T	138824682	3	4	141	1	0	0	0	0	1	0	0	0	16691	1357	47	1	295	1	TTC26	7	138824682	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	31243997	138824682	20313981	50	6485										
DENND2A	27147	broad.mit.edu	37	chr7	140223198	140223198	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agggccacctgaagcttccgGggcaggatggagtcctcatc	14	12	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.chr7:140223198G>T	ENST00000275884.6	-	16	2991	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	858					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)					GAAGCTTCCGGGGCAGGATGG	0.597																																						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.(2572-2574)ccC>ccA		DENN/MADD domain containing 2A							59	62	61					7																	140223198		2018	4178	6196	SO:0001819	synonymous_variant	27147							g.chr7:140223198G>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.2574C>A	7.37:g.140223198G>T			Somatic				DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P	p.P858P			WXS	Illumina GAIIx	Phase_I	Q9ULE3	DEN2A_HUMAN			16	2991	-	Melanoma(164;0.00956)		858					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.2574C>A	CCDS43659.1																																																																																				0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		5	67	5	67	---	---	---	---	T	140223198	G	T	140223198	2	4	141	1	0	0	0	0	0	0	0	1	4429	1219	43	1		1	DENND2A	7	140223198	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	1398516	140223198	18915465	51	6486										
ZNF862	643641	broad.mit.edu	37	chr7	149547345	149547345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gcagtgtatttcacccgggaGgagtggggcatgctagacaa	15	8	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.chr7:149547345G>T	ENST00000223210.4	+	5	1280	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	345	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						TCACCCGGGAGGAGTGGGGCA	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.(1033-1035)gaG>gaT		zinc finger protein 862							92	104	100					7																	149547345		2178	4282	6460	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149547345G>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.1035G>T	7.37:g.149547345G>T	ENSP00000223210:p.Glu345Asp		Somatic					p.E345D	NM_001099220.1	NP_001092690.1	WXS	Illumina GAIIx	Phase_I	O60290	ZN862_HUMAN			5	1280	+			345			KRAB 2.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1035G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000542	0.54254	.	.	ENSG00000106479	ENST00000223210	T	0.03413	3.94	5.03	2.13	0.27403	Krueppel-associated box (4);	0.118551	0.37577	N	0.002028	T	0.05181	0.0138	M	0.68317	2.08	0.21782	N	0.999545	B	0.19073	0.033	B	0.20577	0.03	T	0.30966	-0.9960	10	0.45353	T	0.12	-32.4335	6.685	0.23140	0.3184:0.0:0.6816:0.0	.	345	O60290	ZN862_HUMAN	D	345	ENSP00000223210:E345D	ENSP00000223210:E345D	E	+	3	2	ZNF862	149178278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.655000	0.24933	0.132000	0.18615	0.655000	0.94253	GAG		0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		4	27	4	27	---	---	---	---	T	149547345	G	T	149547345	3	4	141	1	0	0	0	0	1	0	0	0	18192	991	35	1	1053	1	ZNF862	7	149547345	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	9324147	149547345	9591318	52	6487										
KCNU1	157855	broad.mit.edu	37	chr8	36767015	36767015	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	actatctacagagagaatggCgatttctctggaattttccc	8	9	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.chr8:36767015C>A	ENST00000399881.3	+	21	2330	c.2293C>A	c.(2293-2295)Cga>Aga	p.R765R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765					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.R765G(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)		GAGAGAATGGCGATTTCTCTG	0.378																																						ENST00000399881.3																			2	Substitution - Missense(2)	p.R765G(2)	lung(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.(2293-2295)Cga>Aga		potassium channel, subfamily U, member 1							128	127	128					8																	36767015		1853	4082	5935	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36767015C>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.2293C>A	8.37:g.36767015C>A			Somatic					p.R765R	NM_001031836.2	NP_001027006.2	WXS	Illumina GAIIx	Phase_I	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2330	+			765						Silent	SNP	ENST00000399881.3	37	c.2293C>A	CCDS55220.1																																																																																				0.378	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		5	159	5	159	---	---	---	---	A	36767015	C	A	36767015	2	1	141	1	0	0	0	0	0	0	0	1	8093	760	27	3		3	KCNU1	8	36767015	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		36767015	109597007	53	6488										
VCPIP1	80124	broad.mit.edu	37	chr8	67578551	67578551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	caccaagcagtgtccatcccCgtccacatgcactggaatga	8	15	0	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.chr8:67578551C>A	ENST00000310421.4	-	1	901	c.643G>T	c.(643-645)Ggg>Tgg	p.G215W	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	215	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)			TGTCCATCCCCGTCCACATGC	0.522																																					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.(643-645)Ggg>Tgg		valosin containing protein (p97)/p47 complex interacting protein 1							91	89	89					8																	67578551		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578551C>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.643G>T	8.37:g.67578551C>A	ENSP00000309031:p.Gly215Trp		Somatic					p.G215W	NM_025054.4	NP_079330.2	WXS	Illumina GAIIx	Phase_I	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	901	-		Lung NSC(129;0.142)|all_lung(136;0.227)	215			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.643G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331348	0.60853	.	.	ENSG00000175073	ENST00000310421	T	0.38722	1.12	6.16	6.16	0.99307	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70687	-0.4803	10	0.87932	D	0	-11.5859	20.8598	0.99761	0.0:1.0:0.0:0.0	.	215	Q96JH7	VCIP1_HUMAN	W	215	ENSP00000309031:G215W	ENSP00000309031:G215W	G	-	1	0	VCPIP1	67741105	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.937000	0.99478	0.650000	0.86243	GGG		0.522	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			5	115	5	115	---	---	---	---	A	67578551	C	A	67578551	3	1	141	1	0	0	0	0	1	0	0	0	17138	652	23	1	3037	1	VCPIP1	8	67578551	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	30811536	67578551	78785471	54	6489										
LRP12	29967	broad.mit.edu	37	chr8	105503275	105503275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aaaacgtacccagcgtagccCctgagtcatacgactgagtg	10	12	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.chr8:105503275C>A	ENST00000276654.5	-	7	2314	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	736					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)			CAGCGTAGCCCCTGAGTCATA	0.483																																						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.(2206-2208)Ggg>Tgg		low density lipoprotein receptor-related protein 12							116	97	104					8																	105503275		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.chr8:105503275C>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.2206G>T	8.37:g.105503275C>A	ENSP00000276654:p.Gly736Trp		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	p.G736W	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2314	-			736					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.2206G>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178850	0.57692	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.84660	-1.88;-1.8	5.51	5.51	0.81932	.	0.089998	0.85682	D	0.000000	D	0.87466	0.6184	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.69078	0.997;0.996	D;P	0.68483	0.958;0.908	D	0.89043	0.3450	10	0.72032	D	0.01	-20.8121	19.7828	0.96424	0.0:1.0:0.0:0.0	.	717;736	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	W	717;736;101	ENSP00000399148:G717W;ENSP00000276654:G736W	ENSP00000276654:G736W	G	-	1	0	LRP12	105572451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.983000	0.56916	2.747000	0.94245	0.650000	0.86243	GGG		0.483	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		6	88	6	88	---	---	---	---	A	105503275	C	A	105503275	3	1	141	1	0	0	0	0	1	0	0	0	8954	623	22	1	377	1	LRP12	8	105503275	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	37924724	105503275	40860747	55	6490										
TG	7038	broad.mit.edu	37	chr8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tcagaggaacgaagcaggccTgcaatgtgaccagaatggcc	13	10	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.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		Somatic				TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	p.L1521Q	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	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	7	94	---	---	---	---	A	133935616	T	A	133935616	3	1	141	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	28432341	133935616	12428406	56	6491										
FAM135B	51059	broad.mit.edu	37	chr8	139164039	139164039	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agtgctctatgaagagatctGgtcctggggttttcaagtgc	13	7	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.chr8:139164039G>T	ENST00000395297.1	-	13	2849	c.2679C>A	c.(2677-2679)acC>acA	p.T893T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	893										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)			GAAGAGATCTGGTCCTGGGGT	0.468										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.(2677-2679)acC>acA		family with sequence similarity 135, member B							130	125	126					8																	139164039		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139164039G>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.2679C>A	8.37:g.139164039G>T		HNSCC(54;0.14)	Somatic					p.T893T	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2849	-	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)		893					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2679C>A	CCDS6375.2																																																																																				0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		6	164	6	164	---	---	---	---	T	139164039	G	T	139164039	2	4	141	1	0	0	0	0	0	0	0	1	5449	1335	47	1		1	FAM135B	8	139164039	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	5228423	139164039	7199983	57	6492										
TRPM6	140803	broad.mit.edu	37	chr9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	atgctaaacacaccagtttcAtcaccttctgaaaatgccca	4	13	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.chr9:77377204A>C	ENST00000360774.1	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000451710.3_Missense_Mutation_p.D1461E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E	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		Somatic				TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E	p.D1461E			WXS	Illumina GAIIx	Phase_I	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	44	98	---	---	---	---	C	77377204	A	C	77377204	3	2	141	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	58	6493										
SPTLC1	10558	broad.mit.edu	37	chr9	94877638	94877638	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tccaccagaacccactgctcCgtggcggtcgccatagttag	10	15	0	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.chr9:94877638C>A	ENST00000262554.2	-	1	20	c.15G>T	c.(13-15)acG>acT	p.T5T	SPTLC1_ENST00000337841.4_Silent_p.T5T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	5					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CCCACTGCTCCGTGGCGGTCG	0.657																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(13-15)acG>acT		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						30	33	32					9																	94877638		2184	4273	6457	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94877638C>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"hereditary sensory neuropathy, type 1"	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.15G>T	9.37:g.94877638C>A			Somatic				SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T	p.T5T	NM_006415.2	NP_006406.1	WXS	Illumina GAIIx	Phase_I	O15269	SPTC1_HUMAN			1	20	-			5					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.15G>T	CCDS6692.1																																																																																				0.657	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		4	60	4	60	---	---	---	---	A	94877638	C	A	94877638	2	1	141	1	0	0	0	0	0	0	0	1	15122	639	23	1		1	SPTLC1	9	94877638	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	17500434	94877638	46335793	59	6494										
ARHGAP21	57584	broad.mit.edu	37	chr10	24909324	24909324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tctaaggtttcatcctgtccCtcaatataatcccatgaacg	5	12	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.chr10:24909324C>A	ENST00000396432.2	-	9	1986	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	499					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						CATCCTGTCCCTCAATATAAT	0.393																																						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.(1498-1500)gaG>gaT		Rho GTPase activating protein 21							40	43	42					10																	24909324		2189	4290	6479	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909324C>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.1500G>T	10.37:g.24909324C>A	ENSP00000379709:p.Glu500Asp		Somatic				ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	p.E500D	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			9	1986	-			499					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.1500G>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	8.113	0.779288	0.16120	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.45276	2.85;2.96;0.9;0.9	5.76	1.79	0.24919	.	0.513490	0.22187	N	0.063435	T	0.32971	0.0847	L	0.50333	1.59	0.25458	N	0.98795	B;B	0.24186	0.099;0.0	B;B	0.29440	0.102;0.001	T	0.24657	-1.0154	10	0.19590	T	0.45	.	7.3853	0.26878	0.0:0.4344:0.353:0.2126	.	490;499	F8W9U9;Q5T5U3	.;RHG21_HUMAN	D	500;489;287;490;500;335	ENSP00000379709:E500D;ENSP00000365604:E287D;ENSP00000365592:E490D;ENSP00000405018:E500D	ENSP00000365604:E287D	E	-	3	2	ARHGAP21	24949330	0.998000	0.40836	0.854000	0.33618	0.944000	0.59088	0.476000	0.22180	0.139000	0.18822	0.650000	0.86243	GAG		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		5	84	5	84	---	---	---	---	A	24909324	C	A	24909324	3	1	141	1	0	0	0	0	1	0	0	0	871	680	24	1	4448	1	ARHGAP21	10	24909324	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		24909324	110625423	60	6495										
GDF10	2662	broad.mit.edu	37	chr10	48426603	48426603	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	caggtgtccacggacatgttGgggtacaccttcagaaccac	11	12	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.chr10:48426603G>T	ENST00000224605.2	-	3	1669	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	468					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGACATGTTGGGGTACACCT	0.587											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1402-1404)ccC>ccA		growth differentiation factor 10							116	116	116					10																	48426603		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48426603G>T	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.1404C>A	10.37:g.48426603G>T			Somatic	OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.P468P	NM_004962.3	NP_004953.1	WXS	Illumina GAIIx	Phase_I	P55107	BMP3B_HUMAN			3	1669	-			468					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.1404C>A	CCDS7220.1																																																																																				0.587	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		6	146	6	146	---	---	---	---	T	48426603	G	T	48426603	2	4	141	1	0	0	0	0	0	0	0	1	6311	1335	47	1		1	GDF10	10	48426603	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	23517279	48426603	87108144	61	6496										
DDX50	79009	broad.mit.edu	37	chr10	70666556	70666556	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acagatgacctggatgctccCaaggccaaaaaatctaaaat	7	10	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.chr10:70666556C>A	ENST00000373585.3	+	2	284	c.177C>A	c.(175-177)ccC>ccA	p.P59P		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	59						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						TGGATGCTCCCAAGGCCAAAA	0.378																																						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.(175-177)ccC>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							80	80	80					10																	70666556		2203	4300	6503	SO:0001819	synonymous_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666556C>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.177C>A	10.37:g.70666556C>A			Somatic					p.P59P	NM_024045.1	NP_076950.1	WXS	Illumina GAIIx	Phase_I	Q9BQ39	DDX50_HUMAN			2	284	+			59					Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	37	c.177C>A	CCDS7283.1																																																																																				0.378	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		6	97	6	97	---	---	---	---	A	70666556	C	A	70666556	2	1	141	1	0	0	0	0	0	0	0	1	4368	581	21	1		1	DDX50	10	70666556	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	22239953	70666556	64868191	62	6497										
IFIT5	24138	broad.mit.edu	37	chr10	91177698	91177698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tcctggaccaaatatcatccCagccttacgtccttcgttat	5	14	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.chr10:91177698C>A	ENST00000371795.4	+	2	955	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	248					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						AATATCATCCCAGCCTTACGT	0.413																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(742-744)Cag>Aag		interferon-induced protein with tetratricopeptide repeats 5							84	89	87					10																	91177698		2202	4299	6501	SO:0001583	missense	24138						binding	g.chr10:91177698C>A	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.742C>A	10.37:g.91177698C>A	ENSP00000360860:p.Gln248Lys		Somatic				IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	p.Q248K	NM_012420.2	NP_036552.1	WXS	Illumina GAIIx	Phase_I	Q13325	IFIT5_HUMAN			2	955	+			248					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.742C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	5.745	0.321958	0.10900	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.53423	0.62;0.62	6.03	2.9	0.33743	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.587823	0.19455	N	0.113849	T	0.34890	0.0913	L	0.38175	1.15	0.09310	N	1	B;B	0.17038	0.006;0.02	B;B	0.14023	0.01;0.01	T	0.15235	-1.0444	10	0.20519	T	0.43	-2.8002	11.5872	0.50925	0.0:0.605:0.3284:0.0666	.	248;200	Q13325;B4DDV1	IFIT5_HUMAN;.	K	248;200	ENSP00000360860:Q248K;ENSP00000414042:Q200K	ENSP00000360860:Q248K	Q	+	1	0	IFIT5	91167678	0.001000	0.12720	0.059000	0.19551	0.819000	0.46315	0.516000	0.22817	1.529000	0.49120	0.655000	0.94253	CAG		0.413	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		5	73	5	73	---	---	---	---	A	91177698	C	A	91177698	3	1	141	1	0	0	0	0	1	0	0	0	7525	595	21	1	748	1	IFIT5	10	91177698	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	20511142	91177698	44357049	63	6498										
TCF7L2	6934	broad.mit.edu	37	chr10	114711014	114711014	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aaagtttccgagacaaatccCgggaaagtttggaagaaggt	12	6	0	2	rs545962791		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.chr10:114711014C>A	ENST00000355995.4	+	2	745	c.238C>A	c.(238-240)Cgg>Agg	p.R80R	TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|TCF7L2_ENST00000545257.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	80					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)		AGACAAATCCCGGGAAAGTTT	0.746			T	VTI1A	colorectal								c|||	1	0.000199681	0	0	5008	,	,		3560	0		0	False		,,,				2504	0.001					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.(238-240)Cgg>Agg		transcription factor 7-like 2 (T-cell specific, HMG-box)							10	11	11					10																	114711014		2194	4287	6481	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.chr10:114711014C>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.238C>A	10.37:g.114711014C>A			Somatic				TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R	p.R80R			WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	2	745	+		Breast(234;0.058)|Colorectal(252;0.0615)	80					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.238C>A																																																																																					0.746	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		3	14	3	14	---	---	---	---	A	114711014	C	A	114711014	2	1	141	1	0	0	0	0	0	0	0	1	15695	643	23	1		1	TCF7L2	10	114711014	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	23533316	114711014	20823733	64	6499										
TCERG1L	256536	broad.mit.edu	37	chr10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ggcttgggactcccgcagccTtcggtccttcaggaacacaa	11	14	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.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		Somatic					p.E422D	NM_174937.3	NP_777597.2	WXS	Illumina GAIIx	Phase_I	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	6	18	---	---	---	---	A	132915191	T	A	132915191	3	1	141	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	18204177	132915191	2619556	65	6500										
TRIM68	55128	broad.mit.edu	37	chr11	4623608	4623608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gctggtatttttcaaactccCatacaatactctgttttcgg	6	10	2	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.chr11:4623608C>A	ENST00000300747.5	-	4	846	c.557G>T	c.(556-558)tGg>tTg	p.W186L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	186					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)		TTCAAACTCCCATACAATACT	0.498																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(556-558)tGg>tTg		tripartite motif containing 68							81	79	79					11																	4623608		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.chr11:4623608C>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.557G>T	11.37:g.4623608C>A	ENSP00000300747:p.Trp186Leu		Somatic					p.W186L	NM_018073.6	NP_060543.5	WXS	Illumina GAIIx	Phase_I	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	846	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	186					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.557G>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	C	4.020	0.001161	0.07819	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.69926	3.75;-0.44	4.37	2.42	0.29668	.	0.000000	0.39210	N	0.001435	T	0.42720	0.1215	N	0.20685	0.6	0.29516	N	0.85386	B;B	0.15719	0.014;0.012	B;B	0.15870	0.004;0.014	T	0.16660	-1.0395	10	0.18276	T	0.48	.	4.458	0.11652	0.2245:0.6604:0.0:0.1151	.	154;186	E9PR29;Q6AZZ1	.;TRI68_HUMAN	L	186;154	ENSP00000300747:W186L;ENSP00000436112:W154L	ENSP00000300747:W186L	W	-	2	0	TRIM68	4580184	0.004000	0.15560	0.972000	0.41901	0.154000	0.21943	0.155000	0.16362	1.088000	0.41272	0.561000	0.74099	TGG		0.498	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		4	41	4	41	---	---	---	---	A	4623608	C	A	4623608	3	1	141	1	0	0	0	0	1	0	0	0	16538	595	21	1	916	1	TRIM68	11	4623608	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		4623608	130382908	66	6501										
AMBRA1	55626	broad.mit.edu	37	chr11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttcatccaccgggttttatcTtctaccagctcctgcagaag	7	13	3	1	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_ENST00000534300.1_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|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_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		Somatic				AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_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|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D	p.E34D			WXS	Illumina GAIIx	Phase_I	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	15	427	---	---	---	---	A	46569829	T	A	46569829	3	1	141	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	41946221	46569829	88436687	67	6502										
OR5R1	219479	broad.mit.edu	37	chr11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aggtcatcacaatagaaatgGttaattaagtttgggccaca	9	6	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.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		Somatic					p.N175K	NM_001004744.1	NP_001004744.1	WXS	Illumina GAIIx	Phase_I	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	20	98	---	---	---	---	C	56185184	G	C	56185184	3	2	141	1	0	0	0	0	1	0	0	0	11180	1252	44	4	451	4	OR5R1	11	56185184	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	9615355	56185184	78821332	68	6503										
PRG2	5553	broad.mit.edu	37	chr11	57156158	57156158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tggatggaaaccaggttgccCctgtagcacctccggcaagt	12	12	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.chr11:57156158C>A	ENST00000311862.5	-	4	463	c.390G>T	c.(388-390)agG>agT	p.R130S	PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	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)	130	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)	CCAGGTTGCCCCTGTAGCACC	0.473																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(388-390)agG>agT		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)							91	87	88					11																	57156158		2201	4296	6497	SO:0001583	missense	5553							g.chr11:57156158C>A	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.390G>T	11.37:g.57156158C>A	ENSP00000312134:p.Arg130Ser		Somatic				PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	p.R130S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	WXS	Illumina GAIIx	Phase_I				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	463	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.390G>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145756	0.37923	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.52057	0.68;1.03;0.68	5.32	0.22	0.15279	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.329474	0.21629	N	0.071509	T	0.47229	0.1434	L	0.56340	1.77	0.09310	N	1	P;B	0.47191	0.891;0.268	P;B	0.54100	0.742;0.349	T	0.33548	-0.9864	10	0.33940	T	0.23	.	4.1153	0.10079	0.1521:0.5109:0.0:0.337	.	119;130	A6XMW0;P13727	.;PRG2_HUMAN	S	130;119;130	ENSP00000312134:R130S;ENSP00000433231:R119S;ENSP00000433016:R130S	ENSP00000312134:R130S	R	-	3	2	PRG2	56912734	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-1.682000	0.01935	-0.224000	0.09928	-0.300000	0.09419	AGG		0.473	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		6	91	6	91	---	---	---	---	A	57156158	C	A	57156158	3	1	141	1	0	0	0	0	1	0	0	0	12479	622	22	1	290	1	PRG2	11	57156158	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	970974	57156158	77850358	69	6504										
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277128	71277128	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cagtccagctgctgcaatccCtgctgctgccagtccagctg	10	16	0	0	rs561261582	byFrequency	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.chr11:71277128C>A	ENST00000398531.1	+	1	520	c.495C>A	c.(493-495)ccC>ccA	p.P165P	KRTAP5-10_ENST00000376536.4_Silent_p.P117P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	165	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						gctgcaatccctgctgctgcc	0.632																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(493-495)ccC>ccA		keratin associated protein 5-10							92	103	99					11																	71277128		2200	4293	6493	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71277128C>A	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.495C>A	11.37:g.71277128C>A			Somatic				KRTAP5-10_ENST00000376536.4_Silent_p.P117P	p.P165P	NM_001012710.1	NP_001012728.1	WXS	Illumina GAIIx	Phase_I	Q6L8G5	KR510_HUMAN			1	520	+			165			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.495C>A	CCDS41684.1																																																																																				0.632	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			8	188	8	188	---	---	---	---	A	71277128	C	A	71277128	2	1	141	1	0	0	0	0	0	0	0	1	8559	668	24	1		1	KRTAP5-10	11	71277128	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	14120970	71277128	63729388	70	6505										
FAT3	120114	broad.mit.edu	37	chr11	92087998	92087998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttctttgaaaatagaagccaGggacaaggcagagagtggtc	13	6	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.chr11:92087998G>T	ENST00000298047.6	+	1	2737	c.2720G>T	c.(2719-2721)aGg>aTg	p.R907M	FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	907	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)				ATAGAAGCCAGGGACAAGGCA	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.(2719-2721)aGg>aTg		FAT atypical cadherin 3							108	107	107					11																	92087998		1882	4126	6008	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087998G>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.2720G>T	11.37:g.92087998G>T	ENSP00000298047:p.Arg907Met	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M	p.R907M			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			1	2737	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	907			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2720G>T		.	.	.	.	.	.	.	.	.	.	G	18.14	3.558620	0.65538	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53640	4.65;4.65;0.61;4.65	5.58	5.58	0.84498	.	.	.	.	.	T	0.71787	0.3381	M	0.80028	2.48	0.48341	D	0.999637	D	0.89917	1.0	D	0.91635	0.999	T	0.73607	-0.3929	9	0.54805	T	0.06	.	18.562	0.91104	0.0:0.0:1.0:0.0	.	907	Q8TDW7-3	.	M	907;907;907;757	ENSP00000298047:R907M;ENSP00000387040:R907M;ENSP00000443786:R907M;ENSP00000432586:R757M	ENSP00000298047:R907M	R	+	2	0	FAT3	91727646	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.727000	0.98787	2.637000	0.89404	0.467000	0.42956	AGG		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	177	7	177	---	---	---	---	T	92087998	G	T	92087998	3	4	141	1	0	0	0	0	1	0	0	0	5691	1000	35	1	2722	1	FAT3	11	92087998	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	20810870	92087998	42918518	71	6506										
PRDM10	56980	broad.mit.edu	37	chr11	129772217	129772217	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cagggtggaagtcatggtttGgtgatatgcacttcgctgct	14	7	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.chr11:129772217G>T	ENST00000360871.3	-	21	3693	c.3462C>A	c.(3460-3462)acC>acA	p.T1154T	PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000358825.5_Silent_p.T1158T|PRDM10_ENST00000304538.6_Silent_p.T1021T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1145					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)		GTCATGGTTTGGTGATATGCA	0.512																																						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.(3472-3474)acC>acA		PR domain containing 10							315	278	290					11																	129772217		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772217G>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.3462C>A	11.37:g.129772217G>T			Somatic				PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000360871.3_Silent_p.T1154T|PRDM10_ENST00000304538.6_Silent_p.T1021T	p.T1158T	NM_020228.2	NP_064613.2	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3705	-	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)	1145					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.3474C>A	CCDS8484.1																																																																																				0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		6	152	6	152	---	---	---	---	T	129772217	G	T	129772217	2	4	141	1	0	0	0	0	0	0	0	1	12451	1335	47	1		1	PRDM10	11	129772217	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	37684219	129772217	5234299	72	6507										
PRDM10	56980	broad.mit.edu	37	chr11	129785692	129785692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gagcttccgaatgctcggtgGgagctctgctcctgggtggt	16	10	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.chr11:129785692G>T	ENST00000360871.3	-	16	2620	c.2389C>A	c.(2389-2391)Cca>Aca	p.P797T	PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000358825.5_Missense_Mutation_p.P801T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	801					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)		ATGCTCGGTGGGAGCTCTGCT	0.582																																						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.(2401-2403)Cca>Aca		PR domain containing 10							119	116	117					11																	129785692		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129785692G>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.2389C>A	11.37:g.129785692G>T	ENSP00000354118:p.Pro797Thr		Somatic				PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000360871.3_Missense_Mutation_p.P797T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T	p.P801T	NM_020228.2	NP_064613.2	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	17	2632	-	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)	801					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2401C>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978023	0.92982	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11930	2.77;2.85;2.77;2.79;2.82;2.73;2.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	N	0.08118	0	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	0.996;0.998;0.996;0.998;0.999;0.998	T	0.25882	-1.0119	10	0.66056	D	0.02	-15.3324	20.8794	0.99867	0.0:0.0:1.0:0.0	.	711;797;801;715;711;715	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	801;711;797;715;771;715;514	ENSP00000351686:P801T;ENSP00000302669:P711T;ENSP00000354118:P797T;ENSP00000398431:P715T;ENSP00000431262:P771T;ENSP00000432237:P715T;ENSP00000435940:P514T	ENSP00000302669:P711T	P	-	1	0	PRDM10	129290902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CCA		0.582	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	169	7	169	---	---	---	---	T	129785692	G	T	129785692	3	4	141	1	0	0	0	0	1	0	0	0	12451	1232	43	1	1105	1	PRDM10	11	129785692	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	13475	129785692	5220824	73	6508										
GRIN2B	2904	broad.mit.edu	37	chr12	13717392	13717392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgtcatagacggatgactccCgtcggatgaagtccagggcg	14	10	1	3	rs199677214		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.chr12:13717392C>A	ENST00000609686.1	-	13	2989	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	927					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.R927Q(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)	GGATGACTCCCGTCGGATGAA	0.572																																						ENST00000609686.1																			1	Substitution - Missense(1)	p.R927Q(1)	prostate(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.(2779-2781)cGg>cTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						169	158	162					12																	13717392		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.chr12:13717392C>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.2780G>T	12.37:g.13717392C>A	ENSP00000477455:p.Arg927Leu		Somatic					p.R927L	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	2989	-								Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2780G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131716	0.56828	.	.	ENSG00000150086	ENST00000279593	T	0.13657	2.57	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.58810	1.83	0.80722	D	1	B	0.33266	0.404	P	0.45946	0.498	T	0.02512	-1.1148	10	0.72032	D	0.01	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	927	Q13224	NMDE2_HUMAN	L	927	ENSP00000279593:R927L	ENSP00000279593:R927L	R	-	2	0	GRIN2B	13608659	1.000000	0.71417	0.929000	0.37066	0.103000	0.19146	6.065000	0.71176	2.561000	0.86390	0.655000	0.94253	CGG		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	241	7	241	---	---	---	---	A	13717392	C	A	13717392	3	1	141	1	0	0	0	0	1	0	0	0	6780	652	23	1	1678	1	GRIN2B	12	13717392	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		13717392	120134503	74	6509										
KRT73	319101	broad.mit.edu	37	chr12	53002038	53002038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aggtctttccctgggagtccCtgaattcacttgcactcccc	8	15	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.chr12:53002038C>A	ENST00000305748.3	-	9	1599	c.1565G>T	c.(1564-1566)aGg>aTg	p.R522M	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	522	Tail.					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)		CTGGGAGTCCCTGAATTCACT	0.572																																						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.(1564-1566)aGg>aTg		keratin 73							179	183	182					12																	53002038		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53002038C>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.1565G>T	12.37:g.53002038C>A	ENSP00000307014:p.Arg522Met		Somatic				RP11-641A6.2_ENST00000551089.1_RNA	p.R522M	NM_175068.2	NP_778238.1	WXS	Illumina GAIIx	Phase_I	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1599	-			522			Tail.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1565G>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	c	14.96	2.692562	0.48202	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.82711	-1.55;-1.64	5.15	2.78	0.32641	.	0.128112	0.34291	N	0.004083	T	0.72771	0.3502	N	0.14661	0.345	0.22737	N	0.998796	P	0.43352	0.804	P	0.47206	0.541	T	0.64968	-0.6282	10	0.72032	D	0.01	.	7.0362	0.24995	0.0:0.1846:0.0:0.8154	.	522	Q86Y46	K2C73_HUMAN	M	522;267	ENSP00000307014:R522M;ENSP00000449081:R267M	ENSP00000307014:R522M	R	-	2	0	KRT73	51288305	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	0.655000	0.24933	0.379000	0.24794	-0.294000	0.09567	AGG		0.572	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		6	145	6	145	---	---	---	---	A	53002038	C	A	53002038	3	1	141	1	0	0	0	0	1	0	0	0	8486	681	24	1	61	1	KRT73	12	53002038	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	39284646	53002038	80849857	75	6510										
ESPL1	9700	broad.mit.edu	37	chr12	53666575	53666575	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gccgaggcctgtgccatctcTgagccgctctgtcagcacct	11	16	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.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			Somatic				ESPL1_ENST00000552462.1_Silent_p.S480S	p.S480S	NM_012291.4	NP_036423.4	WXS	Illumina GAIIx	Phase_I	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	22	223	---	---	---	---	G	53666575	T	G	53666575	2	3	141	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	664537	53666575	80185320	76	6511										
MAP3K12	7786	broad.mit.edu	37	chr12	53876702	53876702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	caggaggtcatgatgaagccCacggagggcgggagggcagg	20	8	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.chr12:53876702C>A	ENST00000267079.2	-	12	2011	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	596					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						TGATGAAGCCCACGGAGGGCG	0.677																																						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.(1786-1788)Ggg>Tgg		mitogen-activated protein kinase kinase kinase 12							40	45	43					12																	53876702		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.chr12:53876702C>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.1786G>T	12.37:g.53876702C>A	ENSP00000267079:p.Gly596Trp		Somatic				MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W	p.G596W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	WXS	Illumina GAIIx	Phase_I	Q12852	M3K12_HUMAN			12	2011	-			596					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1786G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618579	0.66787	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.76448	-1.0;-1.02;-1.02	3.99	3.99	0.46301	.	0.000000	0.46442	D	0.000291	T	0.80613	0.4656	L	0.29908	0.895	0.46849	D	0.999228	D;D	0.65815	0.995;0.977	D;P	0.65323	0.934;0.778	T	0.82866	-0.0245	10	0.62326	D	0.03	.	16.0449	0.80714	0.0:1.0:0.0:0.0	.	629;596	G3V1Y2;Q12852	.;M3K12_HUMAN	W	596;629;629	ENSP00000267079:G596W;ENSP00000449038:G629W;ENSP00000448689:G629W	ENSP00000267079:G596W	G	-	1	0	MAP3K12	52162969	0.958000	0.32768	1.000000	0.80357	0.733000	0.41908	2.452000	0.44961	2.523000	0.85059	0.491000	0.48974	GGG		0.677	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		5	72	5	72	---	---	---	---	A	53876702	C	A	53876702	3	1	141	1	0	0	0	0	1	0	0	0	9246	594	21	1	809	1	MAP3K12	12	53876702	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	210127	53876702	79975193	77	6512										
GPR84	53831	broad.mit.edu	37	chr12	54756634	54756634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agaatgttgagcagcaagaaGgggatgtagctcagggcaaa	15	5	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.chr12:54756634G>T	ENST00000551809.1	-	1	1637	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	334						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						GCAGCAAGAAGGGGATGTAGC	0.532																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1000-1002)ccC>ccA		G protein-coupled receptor 84							136	135	135					12																	54756634		2203	4300	6503	SO:0001819	synonymous_variant	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756634G>T	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.1002C>A	12.37:g.54756634G>T			Somatic				GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.P334P			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	1637	-			334					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.1002C>A	CCDS8878.1																																																																																				0.532	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	154	7	154	---	---	---	---	T	54756634	G	T	54756634	2	4	141	1	0	0	0	0	0	0	0	1	6714	987	35	1		1	GPR84	12	54756634	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	879932	54756634	79095261	78	6513										
LRP1	4035	broad.mit.edu	37	chr12	57574174	57574174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agctccgggaaccataccatCaaccgctgcaacctggatgg	10	14	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.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			Somatic					p.I1766I	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	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	25	224	---	---	---	---	T	57574174	C	T	57574174	2	4	141	1	0	0	0	0	0	0	0	1	8951	816	29	2		2	LRP1	12	57574174	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	2817540	57574174	76277721	79	6514										
RFX4	5992	broad.mit.edu	37	chr12	107144510	107144510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gagccagtatccggccctccCtcatgacacagctatctctg	8	16	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.chr12:107144510C>A	ENST00000392842.1	+	17	2288	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	RFX4_ENST00000229387.5_Missense_Mutation_p.P531H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P634H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	625					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						CCGGCCCTCCCTCATGACACA	0.537																																						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.(1873-1875)cCt>cAt		regulatory factor X, 4 (influences HLA class II expression)							186	167	173					12																	107144510		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107144510C>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.1874C>A	12.37:g.107144510C>A	ENSP00000376585:p.Pro625His		Somatic				RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H	p.P625H	NM_213594.2	NP_998759.1	WXS	Illumina GAIIx	Phase_I	Q33E94	RFX4_HUMAN			17	2288	+			625					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1874C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779113	0.90195	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.68765	-0.34;-0.35;0.62	5.58	5.58	0.84498	.	0.149505	0.64402	D	0.000009	T	0.58977	0.2160	N	0.14661	0.345	0.46701	D	0.999169	P;P;B	0.40875	0.731;0.514;0.38	B;B;B	0.43478	0.391;0.421;0.174	T	0.65705	-0.6103	10	0.87932	D	0	-13.4116	19.5609	0.95371	0.0:1.0:0.0:0.0	.	531;634;625	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	H	625;634;531	ENSP00000376585:P625H;ENSP00000350552:P634H;ENSP00000229387:P531H	ENSP00000229387:P531H	P	+	2	0	RFX4	105668640	0.988000	0.35896	0.996000	0.52242	0.989000	0.77384	7.456000	0.80751	2.645000	0.89757	0.655000	0.94253	CCT		0.537	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	190	7	190	---	---	---	---	A	107144510	C	A	107144510	3	1	141	1	0	0	0	0	1	0	0	0	13265	681	24	1	2145	1	RFX4	12	107144510	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	49570336	107144510	26707385	80	6515										
OR4K5	79317	broad.mit.edu	37	chr14	20389492	20389492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cattttctacgctggcttccCatattgcagtagtaatatta	6	9	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.chr14:20389492C>A	ENST00000315915.4	+	1	752	c.727C>A	c.(727-729)Cat>Aat	p.H243N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243						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)		GCTGGCTTCCCATATTGCAGT	0.403																																						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.(727-729)Cat>Aat		olfactory receptor, family 4, subfamily K, member 5							250	263	259					14																	20389492		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389492C>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.727C>A	14.37:g.20389492C>A	ENSP00000319511:p.His243Asn		Somatic					p.H243N	NM_001005483.1	NP_001005483.1	WXS	Illumina GAIIx	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	752	+	all_cancers(95;0.00108)		243					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.727C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	12.54	1.969785	0.34754	.	.	ENSG00000176281	ENST00000315915	T	0.00314	8.14	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.01489	0.0048	H	0.99074	4.42	0.39867	D	0.973455	D	0.89917	1.0	D	0.97110	1.0	T	0.05801	-1.0863	10	0.87932	D	0	.	14.7531	0.69543	0.0:1.0:0.0:0.0	.	243	Q8NGD3	OR4K5_HUMAN	N	243	ENSP00000319511:H243N	ENSP00000319511:H243N	H	+	1	0	OR4K5	19459332	0.979000	0.34478	0.052000	0.19188	0.054000	0.15201	5.139000	0.64801	2.329000	0.79093	0.655000	0.94253	CAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	300	8	300	---	---	---	---	A	20389492	C	A	20389492	3	1	141	1	0	0	0	0	1	0	0	0	11073	594	21	1	729	1	OR4K5	14	20389492	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		20389492	86960048	81	6516										
TOX4	9878	broad.mit.edu	37	chr14	21960728	21960728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acaaactccttctccacctcCtatggctactgttgacccag	5	16	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.chr14:21960728C>A	ENST00000405508.1	+	8	1229	c.953C>A	c.(952-954)cCt>cAt	p.P318H	TOX4_ENST00000448790.2_Missense_Mutation_p.P295H|TOX4_ENST00000262709.3_Missense_Mutation_p.P318H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	318						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)		TCTCCACCTCCTATGGCTACT	0.468																																						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.(952-954)cCt>cAt		TOX high mobility group box family member 4							126	119	121					14																	21960728		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960728C>A	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.953C>A	14.37:g.21960728C>A	ENSP00000385102:p.Pro318His		Somatic				TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H	p.P318H			WXS	Illumina GAIIx	Phase_I	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1229	+	all_cancers(95;0.000465)		318					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.953C>A	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857872	0.71834	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.13657	2.57;2.57;2.58	4.8	4.8	0.61643	.	0.244658	0.40640	N	0.001043	T	0.15696	0.0378	L	0.27053	0.805	0.54753	D	0.999982	P;P	0.52463	0.953;0.953	P;P	0.47075	0.536;0.536	T	0.01294	-1.1393	10	0.72032	D	0.01	.	17.1232	0.86707	0.0:1.0:0.0:0.0	.	295;318	B4DPY8;O94842	.;TOX4_HUMAN	H	318;318;295;246	ENSP00000385102:P318H;ENSP00000262709:P318H;ENSP00000393080:P295H	ENSP00000262709:P318H	P	+	2	0	TOX4	21030568	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	4.190000	0.58365	2.656000	0.90262	0.484000	0.47621	CCT		0.468	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		7	153	7	153	---	---	---	---	A	21960728	C	A	21960728	3	1	141	1	0	0	0	0	1	0	0	0	16377	681	24	1	979	1	TOX4	14	21960728	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	1571236	21960728	85388812	82	6517										
MOAP1	64112	broad.mit.edu	37	chr14	93650448	93650448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttccaagcagtctgtactccCccaagggagctaaaccagcc	8	15	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.chr14:93650448C>A	ENST00000556883.1	-	2	624	c.140G>T	c.(139-141)gGg>gTg	p.G47V	TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	47					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)		tctgtactcccccaagggagc	0.552																																						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.(139-141)gGg>gTg		modulator of apoptosis 1							123	133	130					14																	93650448		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650448C>A	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.140G>T	14.37:g.93650448C>A	ENSP00000451594:p.Gly47Val		Somatic				MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V	p.G47V			WXS	Illumina GAIIx	Phase_I	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	624	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	47					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.140G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626200	0.46840	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.15256	2.44;2.44	3.46	3.46	0.39613	.	.	.	.	.	T	0.28001	0.0690	L	0.58510	1.815	0.25747	N	0.985096	P	0.43352	0.804	P	0.51487	0.671	T	0.03259	-1.1055	9	0.44086	T	0.13	-3.9129	10.8095	0.46538	0.0:1.0:0.0:0.0	.	47	Q96BY2	MOAP1_HUMAN	V	47	ENSP00000298894:G47V;ENSP00000451594:G47V	ENSP00000298894:G47V	G	-	2	0	MOAP1	92720201	0.176000	0.23096	0.115000	0.21578	0.717000	0.41224	2.453000	0.44970	2.258000	0.74832	0.650000	0.86243	GGG		0.552	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			7	141	7	141	---	---	---	---	A	93650448	C	A	93650448	3	1	141	1	0	0	0	0	1	0	0	0	9680	623	22	1	919	1	MOAP1	14	93650448	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	71689720	93650448	13699092	83	6518										
HERC2	8924	broad.mit.edu	37	chr15	28375390	28375390	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctgcaacccttggacctgccGaggccttcgaacatggtcat	10	14	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.chr15:28375390G>T	ENST00000261609.7	-	83	12829	c.12721C>A	c.(12721-12723)Cgg>Agg	p.R4241R		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)		TGGACCTGCCGAGGCCTTCGA	0.562																																						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.(12721-12723)Cgg>Agg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							253	224	234					15																	28375390		2203	4300	6503	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.chr15:28375390G>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.12721C>A	15.37:g.28375390G>T			Somatic					p.R4241R	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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)	83	12829	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4241						Silent	SNP	ENST00000261609.7	37	c.12721C>A	CCDS10021.1																																																																																				0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	223	6	223	---	---	---	---	T	28375390	G	T	28375390	2	4	141	1	0	0	0	0	0	0	0	1	7058	1057	37	3		3	HERC2	15	28375390	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08		28375390	74156002	84	6519										
TP53BP1	7158	broad.mit.edu	37	chr15	43713293	43713293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	aggcgtgactggagccttccCtccctgtctgatgccaaggc	12	14	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.chr15:43713293C>A	ENST00000263801.3	-	20	4417	c.4165G>T	c.(4165-4167)Ggg>Tgg	p.G1389W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1389					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)		GGAGCCTTCCCTCCCTGTCTG	0.567								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.(4165-4167)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							126	106	113					15																	43713293		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.chr15:43713293C>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.4165G>T	15.37:g.43713293C>A	ENSP00000263801:p.Gly1389Trp		Somatic				TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron	p.G1389W	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	20	4417	-		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)	1389					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4165G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.828979	0.71258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000450115	T;T;T	0.06371	3.31;3.31;3.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.27053	0.805	0.48236	D	0.999612	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	0.01352	-1.1377	10	0.66056	D	0.02	-13.9664	17.7608	0.88464	0.0:1.0:0.0:0.0	.	1394;1389;1394;1394	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	1389;1394;1394	ENSP00000263801:G1389W;ENSP00000371475:G1394W;ENSP00000393497:G1394W	ENSP00000263801:G1389W	G	-	1	0	TP53BP1	41500585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.008000	0.49544	2.686000	0.91538	0.650000	0.86243	GGG		0.567	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	120	6	120	---	---	---	---	A	43713293	C	A	43713293	3	1	141	1	0	0	0	0	1	0	0	0	16380	681	24	1	1789	1	TP53BP1	15	43713293	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	15337903	43713293	58818099	85	6520										
TP53BP1	7158	broad.mit.edu	37	chr15	43739618	43739618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	taggtgcccaataagaggtgGggttgcaccagtcaatggtg	15	7	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.chr15:43739618G>T	ENST00000263801.3	-	13	3019	c.2767C>A	c.(2767-2769)Cca>Aca	p.P923T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	923					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)		ATAAGAGGTGGGGTTGCACCA	0.363								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.(2767-2769)Cca>Aca	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							105	104	104					15																	43739618		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.chr15:43739618G>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.2767C>A	15.37:g.43739618G>T	ENSP00000263801:p.Pro923Thr		Somatic				TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T	p.P923T	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	13	3019	-		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)	923					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2767C>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611233	0.87258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000414758	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86460	0.5938	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.996;0.996	D	0.85709	0.1318	10	0.49607	T	0.09	-9.1167	19.1149	0.93334	0.0:0.0:1.0:0.0	.	928;923;928;928	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	923;928;928;928;67	ENSP00000263801:P923T;ENSP00000371475:P928T;ENSP00000371470:P928T;ENSP00000393497:P928T	ENSP00000263801:P923T	P	-	1	0	TP53BP1	41526910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.537000	0.82033	2.834000	0.97654	0.650000	0.86243	CCA		0.363	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	110	6	110	---	---	---	---	T	43739618	G	T	43739618	3	4	141	1	0	0	0	0	1	0	0	0	16380	1232	43	1	3215	1	TP53BP1	15	43739618	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	26325	43739618	58791774	86	6521										
MAP1A	4130	broad.mit.edu	37	chr15	43814445	43814445	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gtctggctaccagccaatccCactgagaagattgtgcgtgt	11	11	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.chr15:43814445C>A	ENST00000300231.5	+	4	1224	c.774C>A	c.(772-774)ccC>ccA	p.P258P	MAP1A_ENST00000399453.1_Silent_p.P258P|MAP1A_ENST00000382031.1_Silent_p.P496P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	258					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)	CAGCCAATCCCACTGAGAAGA	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.(1486-1488)ccC>ccA		microtubule-associated protein 1A	Estramustine(DB01196)						90	89	89					15																	43814445		1987	4146	6133	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814445C>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.774C>A	15.37:g.43814445C>A			Somatic				MAP1A_ENST00000300231.5_Silent_p.P258P|MAP1A_ENST00000399453.1_Silent_p.P258P	p.P496P			WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	1519	+		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)	258			9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).		O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.1488C>A	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		6	107	6	107	---	---	---	---	A	43814445	C	A	43814445	2	1	141	1	0	0	0	0	0	0	0	1	9227	581	21	1		1	MAP1A	15	43814445	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	74827	43814445	58716947	87	6522										
SEMA6D	80031	broad.mit.edu	37	chr15	48054506	48054506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acaataaaatatgattccaaAtggataaaaggtacctttga	6	5	0	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.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000355997.3_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			Somatic				SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K	p.K216K	NM_153618.1	NP_705871.1	WXS	Illumina GAIIx	Phase_I	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	3	79	---	---	---	---	G	48054506	A	G	48054506	2	3	141	1	0	0	0	0	0	0	0	1	14042	98	4	2		2	SEMA6D	15	48054506	Silent	SNP	A	TCGA-G9-6377-01A-11D-1961-08	4240061	48054506	54476886	88	6523										
NR2F2	7026	broad.mit.edu	37	chr15	96880728	96880728	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccttccctccgcaccgtctcCtcctcagtcatagagcaatt	5	18	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.chr15:96880728C>A	ENST00000394166.3	+	3	2511	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000453270.2_Silent_p.S221S|NR2F2_ENST00000394171.2_Silent_p.S221S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	374	Important for dimerization.|Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				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)			GCACCGTCTCCTCCTCAGTCA	0.512																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(1120-1122)tcC>tcA		nuclear receptor subfamily 2, group F, member 2							166	153	157					15																	96880728		2197	4298	6495	SO:0001819	synonymous_variant	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.chr15:96880728C>A	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.1122C>A	15.37:g.96880728C>A			Somatic				NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000453270.2_Silent_p.S221S	p.S374S	NM_021005.3	NP_066285.1	WXS	Illumina GAIIx	Phase_I	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2511	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		374			Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.1122C>A	CCDS10375.1																																																																																				0.512	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	203	8	203	---	---	---	---	A	96880728	C	A	96880728	2	1	141	1	0	0	0	0	0	0	0	1	10628	668	24	1		1	NR2F2	15	96880728	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	48826222	96880728	5650664	89	6524										
SELS	55829	broad.mit.edu	37	chr15	101816764	101816764	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	acccacagcagccgcagctcGgtccagctgcctctgcctca	9	19	2	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.chr15:101816764G>T	ENST00000398226.3	-	2	225	c.193C>A	c.(193-195)Cga>Aga	p.R65R	VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000537379.1_Silent_p.R65R|VIMP_ENST00000526049.1_Silent_p.R65R			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	65					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)										GCCGCAGCTCGGTCCAGCTGC	0.502																																						ENST00000398226.3																			0											c.(193-195)Cga>Aga		VCP-interacting membrane protein							31	37	35					15																	101816764		1915	4133	6048	SO:0001819	synonymous_variant	55829							g.chr15:101816764G>T	AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"selenoprotein S"	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.193C>A	15.37:g.101816764G>T			Somatic				VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000537379.1_Silent_p.R65R	p.R65R			WXS	Illumina GAIIx	Phase_I					2	225	-								Q3B771|Q9P0I6	Silent	SNP	ENST00000398226.3	37	c.193C>A	CCDS53979.1																																																																																				0.502	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2	NM_018445		4	50	4	50	---	---	---	---	T	101816764	G	T	101816764	2	4	141	1	0	0	0	0	0	0	0	1	14021	1124	39	1		1	SELS	15	101816764	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	4936036	101816764	714628	90	6525										
CLEC16A	23274	broad.mit.edu	37	chr16	11217672	11217672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccacaagcctgcgtccagccCccattccaagcccttcccca	5	22	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.chr16:11217672C>A	ENST00000409790.1	+	21	2572	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000381822.2_5'Flank	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		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						GCGTCCAGCCCCCATTCCAAG	0.602																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	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.(2341-2343)cCc>cAc		C-type lectin domain family 16, member A							69	78	75					16																	11217672		2134	4240	6374	SO:0001583	missense	23274							g.chr16:11217672C>A	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.2342C>A	16.37:g.11217672C>A	ENSP00000387122:p.Pro781His		Somatic				CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000465491.1_3'UTR	p.P781H	NM_015226.2	NP_056041.1	WXS	Illumina GAIIx	Phase_I	Q2KHT3	CL16A_HUMAN			21	2572	+			781						Missense_Mutation	SNP	ENST00000409790.1	37	c.2342C>A	CCDS45409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043831|5.043831	0.93685|0.93685	.|.	.|.	ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552|ENST00000428742	T|.	0.48522|.	0.81|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74543|0.74543	0.3730|0.3730	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.98|.	T|T	0.72510|0.72510	-0.4271|-0.4271	10|6	0.66056|.	D|.	0.02|.	-25.284|-25.284	18.5026|18.5026	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	781;763|.	Q2KHT3;Q2KHT3-2|.	CL16A_HUMAN;.|.	H|T	781;781;763|25	ENSP00000387122:P781H|.	ENSP00000386495:P763H|.	P|P	+|+	2|1	0|0	CLEC16A|CLEC16A	11125173|11125173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.679000|7.679000	0.84048|0.84048	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		6	89	6	89	---	---	---	---	A	11217672	C	A	11217672	3	1	141	1	0	0	0	0	1	0	0	0	3500	623	22	1	2420	1	CLEC16A	16	11217672	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		11217672	79137081	91	6526										
ABCC11	85320	broad.mit.edu	37	chr16	48232099	48232099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gataagttgggcatatttccCctttttctgcattaactcac	6	10	2	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.chr16:48232099C>A	ENST00000394747.1	-	15	2519	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	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)	GCATATTTCCCCTTTTTCTGC	0.463																																						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.(2170-2172)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							217	197	204					16																	48232099		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48232099C>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.2170G>T	16.37:g.48232099C>A	ENSP00000378230:p.Gly724Trp		Somatic				ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W	p.G724W	NM_033151.3	NP_149163.2	WXS	Illumina GAIIx	Phase_I	Q96J66	ABCCB_HUMAN			15	2519	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	724			ABC transporter 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.2170G>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253891	0.39896	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.59	5.59	0.84812	ABC transporter-like (1);	0.128393	0.52532	D	0.000078	D	0.99363	0.9776	M	0.93638	3.44	0.49582	D	0.999801	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.86	D	0.98871	1.0766	10	0.66056	D	0.02	-22.2493	17.0828	0.86603	0.0:1.0:0.0:0.0	.	724;724	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	724	ENSP00000311326:G724W;ENSP00000349017:G724W;ENSP00000378231:G724W;ENSP00000378230:G724W;ENSP00000438530:G724W	ENSP00000311326:G724W	G	-	1	0	ABCC11	46789600	0.985000	0.35326	0.131000	0.22000	0.096000	0.18686	3.606000	0.54095	2.620000	0.88729	0.561000	0.74099	GGG		0.463	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		7	98	7	98	---	---	---	---	A	48232099	C	A	48232099	3	1	141	1	0	0	0	0	1	0	0	0	51	623	22	1	2038	1	ABCC11	16	48232099	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	37014427	48232099	42122654	92	6527										
NOD2	64127	broad.mit.edu	37	chr16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agcacaggtcagccctgatgAcatttctcttggcttcctgg	10	12	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.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		Somatic					p.D579G	NM_022162.1	NP_071445.1	WXS	Illumina GAIIx	Phase_I	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	6	35	---	---	---	---	G	50745558	A	G	50745558	3	3	141	1	0	0	0	0	1	0	0	0	10517	275	10	2	1750	2	NOD2	16	50745558	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	2513459	50745558	39609195	93	6528										
CDH5	1003	broad.mit.edu	37	chr16	66426125	66426125	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctccgatacatgagccctccCgcgggaaacagagcccaggt	11	15	0	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.chr16:66426125C>A	ENST00000341529.3	+	7	1204	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH5_ENST00000563425.2_Silent_p.P352P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	352	Cadherin 3. {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)	TGAGCCCTCCCGCGGGAAACA	0.522																																						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.(1054-1056)ccC>ccA		cadherin 5, type 2 (vascular endothelium)							151	149	149					16																	66426125		2201	4300	6501	SO:0001819	synonymous_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.chr16:66426125C>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.1056C>A	16.37:g.66426125C>A			Somatic				CDH5_ENST00000563425.2_Silent_p.P352P	p.P352P	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1204	+		Ovarian(137;0.0955)	352			Cadherin 3.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1056C>A	CCDS10804.1																																																																																				0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		6	222	6	222	---	---	---	---	A	66426125	C	A	66426125	2	1	141	1	0	0	0	0	0	0	0	1	3113	639	23	1		1	CDH5	16	66426125	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	15680567	66426125	23928628	94	6529										
FAM65A	79567	broad.mit.edu	37	chr16	67576897	67576897	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gcccattccagtaggaaaccCctcacaagccctgccccaga	7	18	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.chr16:67576897C>A	ENST00000379312.3	+	13	2341	c.2220C>A	c.(2218-2220)ccC>ccA	p.P740P	FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000042381.4_Silent_p.P736P|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Silent_p.P756P	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	740	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTAGGAAACCCCTCACAAGCC	0.602																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2266-2268)ccC>ccA		family with sequence similarity 65, member A							114	128	123					16																	67576897		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67576897C>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2220C>A	16.37:g.67576897C>A			Somatic				FAM65A_ENST00000379312.3_Silent_p.P740P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P	p.P756P			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2488	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	740			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2268C>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828327	0.16749	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.52	-0.0634	0.13777	.	0.429556	0.27019	N	0.021327	T	0.18718	0.0449	.	.	.	0.21020	N	0.9998	.	.	.	.	.	.	T	0.18967	-1.0320	6	0.16896	T	0.51	-7.9689	4.7903	0.13245	0.0:0.4591:0.2946:0.2463	.	.	.	.	T	731	.	ENSP00000389456:P731T	P	+	1	0	FAM65A	66134398	0.000000	0.05858	0.096000	0.21009	0.352000	0.29268	0.300000	0.19156	0.052000	0.16007	-0.263000	0.10527	CCT		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		8	231	8	231	---	---	---	---	A	67576897	C	A	67576897	2	1	141	1	0	0	0	0	0	0	0	1	5599	610	22	1		1	FAM65A	16	67576897	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	1150772	67576897	22777856	95	6530										
TIMM22	29928	broad.mit.edu	37	chr17	904323	904323	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctgcgattgattattacctcCggtgagagtaattgcctgca	10	9	0	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.chr17:904323C>A	ENST00000327158.4	+	4	606	c.580C>A	c.(580-582)Cgg>Agg	p.R194R		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	194					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)		TTATTACCTCCGGTGAGAGTA	0.532																																						ENST00000327158.4																			0				breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(580-582)Cgg>Agg		translocase of inner mitochondrial membrane 22 homolog (yeast)							229	212	218					17																	904323		2203	4300	6503	SO:0001819	synonymous_variant	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:904323C>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.580C>A	17.37:g.904323C>A			Somatic					p.R194R	NM_013337.2	NP_037469.2	WXS	Illumina GAIIx	Phase_I	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	606	+								Q9NWI8	Silent	SNP	ENST00000327158.4	37	c.580C>A	CCDS32521.1																																																																																				0.532	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		5	163	5	163	---	---	---	---	A	904323	C	A	904323	2	1	141	1	0	0	0	0	0	0	0	1	15907	643	23	1		1	TIMM22	17	904323	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		904323	80290887	96	6531										
PEX12	5193	broad.mit.edu	37	chr17	33904411	33904411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	atttccaaagctgctgctttGggagaccagcactagccaat	9	11	0	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.chr17:33904411G>T	ENST00000225873.4	-	2	933	c.326C>A	c.(325-327)cCa>cAa	p.P109Q	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	109					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)		CTGCTGCTTTGGGAGACCAGC	0.438																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(325-327)cCa>cAa		peroxisomal biogenesis factor 12							129	146	140					17																	33904411		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904411G>T	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.326C>A	17.37:g.33904411G>T	ENSP00000225873:p.Pro109Gln		Somatic					p.P109Q	NM_000286.2	NP_000277.1	WXS	Illumina GAIIx	Phase_I	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	933	-			109					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.326C>A	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639694	0.67244	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	T	0.81415	-1.49	5.46	5.46	0.80206	Pex, N-terminal (1);	0.231081	0.45606	D	0.000355	D	0.83027	0.5165	L	0.37630	1.12	0.52099	D	0.999941	D	0.57899	0.981	P	0.62885	0.908	T	0.77560	-0.2542	10	0.11794	T	0.64	-12.1965	18.3052	0.90177	0.0:0.0:1.0:0.0	.	109	O00623	PEX12_HUMAN	Q	109	ENSP00000225873:P109Q	ENSP00000225873:P109Q	P	-	2	0	PEX12	30928524	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.582000	0.53921	2.568000	0.86640	0.650000	0.86243	CCA		0.438	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		8	257	8	257	---	---	---	---	T	33904411	G	T	33904411	3	4	141	1	0	0	0	0	1	0	0	0	11740	1348	47	1	761	1	PEX12	17	33904411	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	33000088	33904411	47290799	97	6532										
GJC1	10052	broad.mit.edu	37	chr17	42882007	42882007	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cgccaggattaaatccagacGgaggtcttcccatcccctga	9	14	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.chr17:42882007G>T	ENST00000426548.1	-	3	1448	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S|GJC1_ENST00000590758.1_Silent_p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	393					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)				AAATCCAGACGGAGGTCTTCC	0.488																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(1177-1179)tcC>tcA		gap junction protein, gamma 1, 45kDa							114	109	111					17																	42882007		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.chr17:42882007G>T	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.1179C>A	17.37:g.42882007G>T			Somatic				GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S	p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	WXS	Illumina GAIIx	Phase_I	P36383	CXG1_HUMAN			3	1448	-		Prostate(33;0.0959)	393					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.1179C>A	CCDS11487.1																																																																																				0.488	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		6	110	6	110	---	---	---	---	T	42882007	G	T	42882007	2	4	141	1	0	0	0	0	0	0	0	1	6414	1103	39	1		1	GJC1	17	42882007	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08	8977596	42882007	38313203	98	6533										
TMEM92	162461	broad.mit.edu	37	chr17	48356659	48356659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tcagaggggcattgacaaccCggccttctgagtcacctcct	10	14	3	3	rs372827786		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.chr17:48356659C>A	ENST00000300433.3	+	6	580	c.470C>A	c.(469-471)cCg>cAg	p.P157Q	TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ATTGACAACCCGGCCTTCTGA	0.592																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(469-471)cCg>cAg		transmembrane protein 92							79	86	84					17																	48356659		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356659C>A		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.470C>A	17.37:g.48356659C>A	ENSP00000300433:p.Pro157Gln		Somatic				TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q	p.P157Q	NM_001168215.1	NP_001161687.1	WXS	Illumina GAIIx	Phase_I	Q6UXU6	TMM92_HUMAN			6	580	+			157					Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.470C>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.156213	0.78114	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.15372	2.43;2.43	4.53	3.57	0.40892	.	0.487586	0.17258	N	0.180896	T	0.33323	0.0859	L	0.60455	1.87	0.22305	N	0.99922	D	0.76494	0.999	D	0.70935	0.971	T	0.04333	-1.0959	10	0.59425	D	0.04	0.1559	8.6067	0.33778	0.0:0.895:0.0:0.105	.	157	Q6UXU6	TMM92_HUMAN	Q	157	ENSP00000300433:P157Q;ENSP00000425144:P157Q	ENSP00000300433:P157Q	P	+	2	0	TMEM92	45711658	0.010000	0.17322	0.315000	0.25238	0.733000	0.41908	0.718000	0.25866	1.144000	0.42321	-0.355000	0.07637	CCG		0.592	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		5	128	5	128	---	---	---	---	A	48356659	C	A	48356659	3	1	141	1	0	0	0	0	1	0	0	0	16218	652	23	1	488	1	TMEM92	17	48356659	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	5474652	48356659	32838551	99	6534										
MYOM1	8736	broad.mit.edu	37	chr18	3135567	3135567	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agtttgtcccctaccacagtCacctccgttgcctctgaggg	9	15	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.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			Somatic				MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	WXS	Illumina GAIIx	Phase_I	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	14	15	---	---	---	---	A	3135567	C	A	3135567	2	1	141	1	0	0	0	0	0	0	0	1	10091	813	29	3		3	MYOM1	18	3135567	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		3135567	74941681	100	6535										
C18orf10	25941	broad.mit.edu	37	chr18	34385449	34385449	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ctgttaattgccatgcttccCagtggaatgatgtgctctag	10	9	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.chr18:34385449C>A	ENST00000334295.4	-	4	697	c.270G>T	c.(268-270)ctG>ctT	p.L90L	TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000590842.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	90						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCATGCTTCCCAGTGGAATGA	0.453																																						ENST00000334295.4																			0											c.(268-270)ctG>ctT		tubulin polyglutamylase complex subunit 2							259	218	232					18																	34385449		2203	4300	6503	SO:0001819	synonymous_variant	25941					cytoplasm|microtubule		g.chr18:34385449C>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 10"	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.270G>T	18.37:g.34385449C>A			Somatic				TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000590842.1_Silent_p.L90L	p.L90L	NM_015476.2	NP_056291.2	WXS	Illumina GAIIx	Phase_I	Q68CL5	TPGS2_HUMAN			4	697	-			90					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Silent	SNP	ENST00000334295.4	37	c.270G>T	CCDS32817.1																																																																																				0.453	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		6	113	6	113	---	---	---	---	A	34385449	C	A	34385449	2	1	141	1	0	0	0	0	0	0	0	1	1895	581	21	1		1	C18orf10	18	34385449	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	31249882	34385449	43691799	101	6536										
ABCA7	10347	broad.mit.edu	37	chr19	1046282	1046282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gaccgacctgcgctacgtgtGgggcggcttcgtgtacctgc	15	13	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.chr19:1046282G>T	ENST00000263094.6	+	13	1730	c.1499G>T	c.(1498-1500)tGg>tTg	p.W500L	ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	500					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)		CGCTACGTGTGGGGCGGCTTC	0.692																																						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.(1498-1500)tGg>tTg		ATP-binding cassette, sub-family A (ABC1), member 7							111	119	116					19																	1046282		2203	4298	6501	SO:0001583	missense	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.chr19:1046282G>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.1499G>T	19.37:g.1046282G>T	ENSP00000263094:p.Trp500Leu		Somatic				ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L	p.W500L	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	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)	13	1730	+		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)	500					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1499G>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.695394	0.68386	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97232	-4.3;-4.3	4.95	3.84	0.44239	.	.	.	.	.	D	0.97492	0.9179	L	0.61036	1.89	0.39538	D	0.968775	D;D	0.89917	1.0;0.987	D;P	0.97110	1.0;0.87	D	0.96301	0.9221	9	0.25106	T	0.35	.	12.426	0.55546	0.0:0.1709:0.8291:0.0	.	362;500	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	500	ENSP00000263094:W500L;ENSP00000414062:W500L	ENSP00000263094:W500L	W	+	2	0	ABCA7	997282	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	6.488000	0.73637	2.294000	0.77228	0.556000	0.70494	TGG		0.692	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	275	8	275	---	---	---	---	T	1046282	G	T	1046282	3	4	141	1	0	0	0	0	1	0	0	0	37	1357	47	1	1545	1	ABCA7	19	1046282	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08		1046282	58082701	102	6537										
STX10	8677	broad.mit.edu	37	chr19	13260570	13260570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tcttccaggtcctcgaggtcCcactcgatgctgcgcaggcc	11	16	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.chr19:13260570C>A	ENST00000587230.1	-	2	241	c.177G>T	c.(175-177)tgG>tgT	p.W59C	STX10_ENST00000589083.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|IER2_ENST00000587885.1_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.W59C|IER2_ENST00000588173.1_5'Flank|IER2_ENST00000292433.3_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	59					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCGAGGTCCCACTCGATGC	0.652											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(175-177)tgG>tgT		syntaxin 10							93	84	87					19																	13260570		2203	4300	6503	SO:0001583	missense	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13260570C>A	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.177G>T	19.37:g.13260570C>A	ENSP00000466298:p.Trp59Cys		Somatic	OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	STX10_ENST00000587230.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|STX10_ENST00000242770.5_Missense_Mutation_p.W59C	p.W59C	NM_001271610.1	NP_001258539.1	WXS	Illumina GAIIx	Phase_I	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		2	229	-			59					A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	c.177G>T	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727635	0.89390	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	4.3	0.51218	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.64402	U	0.000005	D	0.84889	0.5572	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87980	0.2742	9	0.54805	T	0.06	.	14.3407	0.66624	0.0:1.0:0.0:0.0	.	59	O60499	STX10_HUMAN	C	59	.	ENSP00000242770:W59C	W	-	3	0	STX10	13121570	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.088000	0.76901	2.236000	0.73375	0.563000	0.77884	TGG		0.652	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		5	58	5	58	---	---	---	---	A	13260570	C	A	13260570	3	1	141	1	0	0	0	0	1	0	0	0	15335	624	22	1	599	1	STX10	19	13260570	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	12214288	13260570	45868413	103	6538										
CHERP	84167	broad.mit.edu	37	chr19	16631188	16631188	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgcctacctagatctggagcGggagtaggaacgggagcagg	17	8	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.chr19:16631188G>T	ENST00000221671.3	+	0	2454				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R778S|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S	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						GATCTGGAGCGGGAGTAGGAA	0.632																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2332-2334)Cgc>Agc		calcium homeostasis endoplasmic reticulum protein							118	130	126					19																	16631188		2069	4188	6257	SO:0001624	3_prime_UTR_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.chr19:16631188G>T	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.*324G>T	19.37:g.16631188G>T			Somatic				C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S|CHERP_ENST00000544299.1_5'UTR	p.R778S	NM_006387.5	NP_006378.3	WXS	Illumina GAIIx	Phase_I	Q8IWX8	CHERP_HUMAN			14	2483	-			778	R -> C (in Ref. 1; AAN77183).		Arg-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2332C>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224370	0.22457	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.40756	1.02;1.02	4.67	4.67	0.58626	.	.	.	.	.	T	0.37758	0.1015	L	0.59436	1.845	0.43025	D	0.994584	P	0.35242	0.492	B	0.32393	0.145	T	0.31696	-0.9934	9	0.40728	T	0.16	-16.5837	11.7645	0.51922	0.0:0.0:0.8239:0.1761	.	778	Q8IWX8	CHERP_HUMAN	S	778;789	ENSP00000439856:R778S;ENSP00000198939:R789S	ENSP00000198939:R789S	R	-	1	0	CHERP	16492188	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.959000	0.76031	2.139000	0.66308	0.561000	0.74099	CGC		0.632	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		5	151	5	151	---	---	---	---	T	16631188	G	T	16631188	1	4	141	0	1	0	0	0	0	0	0	0	3336	1116	39	1		1	CHERP	19	16631188	3'UTR	SNP	G	TCGA-G9-6377-01A-11D-1961-08	3370618	16631188	42497795	104	6539										
FKBP8	23770	broad.mit.edu	37	chr19	18644141	18644141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ggatggcctcactgtactccCcctgctgggccagcacctgt	11	16	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.chr19:18644141C>A	ENST00000596558.2	-	7	1068	c.959G>T	c.(958-960)gGg>gTg	p.G320V	AC005387.3_ENST00000597837.2_RNA|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000608443.1_Missense_Mutation_p.G321V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	320					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						ACTGTACTCCCCCTGCTGGGC	0.622																																						ENST00000608443.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(961-963)gGg>gTg		FK506 binding protein 8, 38kDa							58	42	47					19																	18644141		2203	4299	6502	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.chr19:18644141C>A	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.959G>T	19.37:g.18644141C>A	ENSP00000472302:p.Gly320Val		Somatic				FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000596558.2_Missense_Mutation_p.G320V|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V	p.G321V			WXS	Illumina GAIIx	Phase_I	Q14318	FKBP8_HUMAN			7	1161	-								C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.962G>T		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732380	0.69189	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.59638	0.25;0.25;0.25	4.86	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108734	0.64402	D	0.000008	T	0.77438	0.4130	M	0.81942	2.565	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.903;1.0	D;D;P;D	0.83275	0.99;0.996;0.814;0.988	T	0.79948	-0.1588	10	0.56958	D	0.05	-28.6031	17.1536	0.86784	0.0:1.0:0.0:0.0	.	349;264;320;321	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	321;161;349	ENSP00000222308:G321V;ENSP00000441267:G161V;ENSP00000388891:G349V	ENSP00000222308:G321V	G	-	2	0	FKBP8	18505141	0.997000	0.39634	0.995000	0.50966	0.986000	0.74619	5.228000	0.65310	2.528000	0.85240	0.655000	0.94253	GGG		0.622	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		4	23	4	23	---	---	---	---	A	18644141	C	A	18644141	3	1	141	1	0	0	0	0	1	0	0	0	5914	623	22	1	291	1	FKBP8	19	18644141	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	2012953	18644141	40484842	105	6540										
ZFP36	7538	broad.mit.edu	37	chr19	39899014	39899014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	cttctcgccctccagctcccCaccaccacctggggaccttc	6	22	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.chr19:39899014C>A	ENST00000248673.3	+	2	714	c.656C>A	c.(655-657)cCa>cAa	p.P219Q	ZFP36_ENST00000597629.1_Missense_Mutation_p.P225Q|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	219					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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 tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGCTCCCCACCACCACCT	0.697																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(673-675)cCa>cAa		ZFP36 ring finger protein							47	55	53					19																	39899014		2200	4297	6497	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899014C>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"RING-type (C3HC4) zinc fingers"	12862	protein-coding gene	gene with protein product		190700	"zinc finger protein 36, C3H type, homolog (mouse)"			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.656C>A	19.37:g.39899014C>A	ENSP00000248673:p.Pro219Gln		Somatic				ZFP36_ENST00000248673.3_Missense_Mutation_p.P219Q	p.P225Q			WXS	Illumina GAIIx	Phase_I	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	748	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		219					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.674C>A		.	.	.	.	.	.	.	.	.	.	C	17.32	3.358884	0.61403	.	.	ENSG00000128016	ENST00000248673	T	0.20738	2.05	4.35	3.3	0.37823	.	0.071790	0.64402	D	0.000020	T	0.30696	0.0773	L	0.50333	1.59	0.34754	D	0.732062	D	0.59357	0.985	P	0.56434	0.798	T	0.38779	-0.9645	10	0.27785	T	0.31	-8.2901	12.0675	0.53596	0.0:0.8247:0.1753:0.0	.	219	P26651	TTP_HUMAN	Q	219	ENSP00000248673:P219Q	ENSP00000248673:P219Q	P	+	2	0	ZFP36	44590854	0.330000	0.24705	0.898000	0.35279	0.829000	0.46940	2.094000	0.41719	1.051000	0.40369	0.442000	0.29010	CCA		0.697	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	150	6	150	---	---	---	---	A	39899014	C	A	39899014	3	1	141	1	0	0	0	0	1	0	0	0	17642	594	21	1	662	1	ZFP36	19	39899014	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	21254873	39899014	19229969	106	6541										
ARHGEF1	9138	broad.mit.edu	37	chr19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ccccagcctggctgcacttgAggttcccgcccaggaaggtg	13	15	0	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.chr19:42410938A>T	ENST00000354532.3	+	28	2887	c.2739A>T	c.(2737-2739)tgA>tgT	p.*913C	ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000599846.1_Nonstop_Mutation_p.*969C|CTD-2575K13.6_ENST00000597630.1_RNA	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	9138				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		Somatic				ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C	p.*969C			WXS	Illumina GAIIx	Phase_I	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	9	21	---	---	---	---	T	42410938	A	T	42410938	4	4	141	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	2511924	42410938	16718045	107	6542										
LIG1	3978	broad.mit.edu	37	chr19	48646816	48646816	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttaccgagcagacacctcctCgatcttctcaaacgtccggg	8	15	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.chr19:48646816C>A	ENST00000263274.7	-	11	1317	c.898G>T	c.(898-900)Gag>Tag	p.E300*	CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*|LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	300					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)	GACACCTCCTCGATCTTCTCA	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.(898-900)Gag>Tag	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						114	116	116					19																	48646816		2203	4300	6503	SO:0001587	stop_gained	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.chr19:48646816C>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.898G>T	19.37:g.48646816C>A	ENSP00000263274:p.Glu300*		Somatic				LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*	p.E300*	NM_000234.1	NP_000225.1	WXS	Illumina GAIIx	Phase_I	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)	11	1317	-		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)	300					B2RAI8|Q2TB12|Q32P23	Nonsense_Mutation	SNP	ENST00000263274.7	37	c.898G>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559020	0.97663	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-30.9983	15.2593	0.73610	0.0:1.0:0.0:0.0	.	.	.	.	X	300;331;269;232;268	.	ENSP00000263274:E300X	E	-	1	0	LIG1	53338628	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.084000	0.71335	2.369000	0.80426	0.655000	0.94253	GAG		0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	130	5	130	---	---	---	---	A	48646816	C	A	48646816	4	1	141	1	0	0	0	0	0	1	0	0	8781	893	31	3	1933	3	LIG1	19	48646816	Nonsense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	6235878	48646816	10482167	108	6543										
ZNF160	90338	broad.mit.edu	37	chr19	53573193	53573193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttacattcatacattttcccCtcaccttgaaatagctgcag	4	12	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.chr19:53573193C>A	ENST00000429604.1	-	7	1009	c.594G>T	c.(592-594)gaG>gaT	p.E198D	ZNF160_ENST00000601421.1_Missense_Mutation_p.E162D|ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	198					hemopoiesis (GO:0030097)|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)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTTCCCCTCACCTTGAA	0.413																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(484-486)gaG>gaT		zinc finger protein 160							178	156	163					19																	53573193		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573193C>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.594G>T	19.37:g.53573193C>A	ENSP00000406201:p.Glu198Asp		Somatic				ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000429604.1_Missense_Mutation_p.E198D	p.E162D			WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1362	-			198					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.486G>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107742	0.08780	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07800	3.16;3.16	2.39	-1.25	0.09405	.	.	.	.	.	T	0.04770	0.0129	L	0.37697	1.125	0.09310	N	1	B	0.34015	0.435	B	0.29598	0.104	T	0.37103	-0.9720	9	0.34782	T	0.22	.	0.3546	0.00355	0.2053:0.2878:0.2095:0.2974	.	198	Q9HCG1	ZN160_HUMAN	D	198	ENSP00000406201:E198D;ENSP00000409597:E198D	ENSP00000409597:E198D	E	-	3	2	ZNF160	58265005	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.364000	0.02590	-0.209000	0.10156	-0.340000	0.08031	GAG		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		6	144	6	144	---	---	---	---	A	53573193	C	A	53573193	3	1	141	1	0	0	0	0	1	0	0	0	17736	680	24	1	1866	1	ZNF160	19	53573193	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	4926377	53573193	5555790	109	6544										
PRPF31	26121	broad.mit.edu	37	chr19	54625942	54625942	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgaactggagtccttggtccCcaatgcactggattacatcc	9	12	0	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.chr19:54625942C>A	ENST00000321030.4	+	5	738	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	130					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)					TCCTTGGTCCCCAATGCACTG	0.572																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(388-390)cCc>cAc		pre-mRNA processing factor 31							200	173	182					19																	54625942		2203	4300	6503	SO:0001583	missense	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.chr19:54625942C>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.389C>A	19.37:g.54625942C>A	ENSP00000324122:p.Pro130His		Somatic				PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H	p.P130H	NM_015629.3	NP_056444.3	WXS	Illumina GAIIx	Phase_I	Q8WWY3	PRP31_HUMAN			5	738	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		130					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.389C>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392439	0.62066	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.13	5.13	0.70059	NOSIC (2);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	L	0.52905	1.665	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67231	0.95;0.911	D	0.84918	0.0852	10	0.22706	T	0.39	-38.5235	17.7314	0.88378	0.0:1.0:0.0:0.0	.	130;130	E7ESA8;Q8WWY3	.;PRP31_HUMAN	H	130	ENSP00000324122:P130H;ENSP00000395894:P130H;ENSP00000405166:P130H;ENSP00000408980:P130H;ENSP00000395089:P130H;ENSP00000375635:P130H	ENSP00000263436:P130H	P	+	2	0	PRPF31	59317754	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.207000	0.65197	2.555000	0.86185	0.655000	0.94253	CCC		0.572	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			7	199	7	199	---	---	---	---	A	54625942	C	A	54625942	3	1	141	1	0	0	0	0	1	0	0	0	12566	623	22	1	403	1	PRPF31	19	54625942	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	1052749	54625942	4503041	110	6545										
SIRPA	140885	broad.mit.edu	37	chr20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	catccacagcacagccaaggTggtgctgacccgcgaggacg	13	14	0	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.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		Somatic				SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	p.V215G	NM_001040023.1	NP_001035112.1	WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	G	1902248	T	G	1902248	3	3	141	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	111	6546										
GMEB2	26205	broad.mit.edu	37	chr20	62229167	62229167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	agtccttcagggtggacttcCcggccaggtgcacaaattcc	11	13	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.chr20:62229167C>A	ENST00000266068.1	-	4	882	c.404G>T	c.(403-405)gGg>gTg	p.G135V	GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V|GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	135	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTGGACTTCCCGGCCAGGTG	0.612																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(403-405)gGg>gTg		glucocorticoid modulatory element binding protein 2							134	104	114					20																	62229167		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62229167C>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.404G>T	20.37:g.62229167C>A	ENSP00000266068:p.Gly135Val		Somatic				GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V|GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V	p.G135V			WXS	Illumina GAIIx	Phase_I	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		4	882	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		135			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.404G>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911167	0.72983	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.77229	-1.08;-1.08;-1.08	5.02	5.02	0.67125	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.90452	0.7010	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92550	0.6049	10	0.87932	D	0	1.5484	18.3277	0.90260	0.0:1.0:0.0:0.0	.	135	Q9UKD1	GMEB2_HUMAN	V	84;135;135	ENSP00000359086:G84V;ENSP00000359094:G135V;ENSP00000266068:G135V	ENSP00000266068:G135V	G	-	2	0	GMEB2	61699611	1.000000	0.71417	0.999000	0.59377	0.339000	0.28857	7.621000	0.83083	2.338000	0.79540	0.561000	0.74099	GGG		0.612	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	76	5	76	---	---	---	---	A	62229167	C	A	62229167	3	1	141	1	0	0	0	0	1	0	0	0	6488	623	22	1	1212	1	GMEB2	20	62229167	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	60326919	62229167	796353	112	6547										
SMARCB1	6598	broad.mit.edu	37	chr22	24129387	24129387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tggcgctgagcaagaccttcGggcagaagcccgtgaagttc	14	11	0	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.chr22:24129387G>T	ENST00000263121.7	+	1	227	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000344921.6_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11					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.?(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		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAAGACCTTCGGGCAGAAGCC	0.716			"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		2	Unknown(2)	p.?(2)	soft_tissue(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.(31-33)Ggg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							45	51	49					22																	24129387		2202	4300	6502	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.chr22:24129387G>T	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.31G>T	22.37:g.24129387G>T	ENSP00000263121:p.Gly11Trp		Somatic				SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000263121.7_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W	p.G11W			WXS	Illumina GAIIx	Phase_I	Q12824	SNF5_HUMAN			1	238	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	11					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.31G>T	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746590	0.89663	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	3.49	2.48	0.30137	.	0.053193	0.85682	D	0.000000	D	0.95771	0.8624	M	0.77103	2.36	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;0.998	D	0.95310	0.8411	10	0.87932	D	0	-33.3969	10.4337	0.44421	0.0992:0.0:0.9008:0.0	.	11;11;11;11;11;11	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	W	11	ENSP00000388489:G11W;ENSP00000340883:G11W;ENSP00000263121:G11W;ENSP00000383984:G11W;ENSP00000385226:G11W	ENSP00000263121:G11W	G	+	1	0	SMARCB1	22459387	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.456000	0.90359	1.050000	0.40346	0.478000	0.44815	GGG		0.716	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		5	85	5	85	---	---	---	---	T	24129387	G	T	24129387	3	4	141	1	0	0	0	0	1	0	0	0	14774	1116	39	1	33	1	SMARCB1	22	24129387	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08		24129387	27175179	113	6548										
DEPDC5	9681	broad.mit.edu	37	chr22	32275670	32275670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	gctgcctagccggccagcctCctatgcaagtaggcacagct	11	15	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.chr22:32275670C>A	ENST00000382112.3	+	37	4008	c.3938C>A	c.(3937-3939)tCc>tAc	p.S1313Y	DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1322					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			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						CGGCCAGCCTCCTATGCAAGT	0.572																																						ENST00000400246.1																			0				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.(3964-3966)tCc>tAc		DEP domain containing 5							51	53	52					22																	32275670		2007	4169	6176	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32275670C>A	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.3938C>A	22.37:g.32275670C>A	ENSP00000371546:p.Ser1313Tyr		Somatic				DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1313Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y	p.S1322Y			WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			38	4107	+			1291					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3965C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.44|18.44	3.623410|3.623410	0.66901|0.66901	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000382105|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T|T;T;T;T;T;T;T	0.32023|0.34859	1.47|1.34;1.77;1.77;1.73;1.77;1.73;1.77	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;0.999;1.0;0.999;0.998;0.998	.|D;D;D;D;D;D	.|0.91635	.|0.993;0.996;0.999;0.996;0.991;0.991	T|T	0.55471|0.55471	-0.8136|-0.8136	7|10	0.87932|0.54805	D|T	0|0.06	.|.	18.8724|18.8724	0.92320|0.92320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1322;1222;708;1300;1313;1291	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	T|Y	1208|1222;1300;1291;1222;1322;1313;1322;1291;139	ENSP00000371539:P1208T|ENSP00000440210:S1222Y;ENSP00000266091:S1300Y;ENSP00000383108:S1291Y;ENSP00000383105:S1322Y;ENSP00000371546:S1313Y;ENSP00000371545:S1322Y;ENSP00000383107:S1291Y	ENSP00000371539:P1208T|ENSP00000266091:S1300Y	P|S	+|+	1|2	0|0	DEPDC5|DEPDC5	30605670|30605670	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.913000|0.913000	0.54294|0.54294	7.443000|7.443000	0.80521|0.80521	2.704000|2.704000	0.92352|0.92352	0.651000|0.651000	0.88453|0.88453	CCT|TCC		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	57	5	57	---	---	---	---	A	32275670	C	A	32275670	3	1	141	1	0	0	0	0	1	0	0	0	4442	855	30	3	4102	3	DEPDC5	22	32275670	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	8146283	32275670	19028896	114	6549										
PGK1	5230	broad.mit.edu	37	chrX	77369512	77369512	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	ttcatctcttcctcttctcaGggatgttctgttcttgaagg	8	10	6	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.chrX:77369512G>T	ENST00000373316.4	+	4	439		c.e4-1		PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCTCTTCTCAGGGATGTTCTG	0.502																																						ENST00000373316.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.e4-1		phosphoglycerate kinase 1							119	121	120					X																	77369512		2203	4297	6500	SO:0001630	splice_region_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369512G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.273-1G>T	X.37:g.77369512G>T			Somatic				PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site		NM_000291.3	NP_000282.1	WXS	Illumina GAIIx	Phase_I	P00558	PGK1_HUMAN			4	439	+								A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Splice_Site	SNP	ENST00000373316.4	37		CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.176662	0.38413	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	.	.	.	4.88	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7225	0.51691	0.0884:0.0:0.9116:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGK1	77256168	1.000000	0.71417	0.981000	0.43875	0.488000	0.33401	9.214000	0.95140	0.960000	0.38005	0.591000	0.81541	.		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		Intron	6	130	6	130	---	---	---	---	T	77369512	G	T	77369512	5	4	141	1	0	0	0	0	0	0	1	0	11790	1014	35	1	286	1	PGK1	23	77369512	Splice_Site	SNP	G	TCGA-G9-6377-01A-11D-1961-08		77369512	77901048	115	6550										
ZNF449	203523	broad.mit.edu	37	chrX	134494804	134494804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0172413793103448	2	0.930579858446434	4.42631578947368	4.42631578947368	4.42631578947368	1	1	0	tgacagctcttactttgcacCagagaacgcatactgaagag	9	10	1	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.chrX:134494804C>A	ENST00000339249.4	+	5	1500	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	454					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(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACTTTGCACCAGAGAACGCA	0.368																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(1360-1362)Cag>Aag		zinc finger protein 449							95	96	95					X																	134494804		2203	4299	6502	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494804C>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1360C>A	X.37:g.134494804C>A	ENSP00000339585:p.Gln454Lys		Somatic					p.Q454K	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	1500	+	Acute lymphoblastic leukemia(192;6.56e-05)		454					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1360C>A	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799525	0.50208	.	.	ENSG00000173275	ENST00000339249	T	0.16196	2.36	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000667	T	0.09862	0.0242	N	0.03903	-0.33	0.80722	D	1	P	0.43231	0.801	B	0.41813	0.367	T	0.25257	-1.0137	10	0.72032	D	0.01	.	14.0326	0.64624	0.0:1.0:0.0:0.0	.	454	Q6P9G9	ZN449_HUMAN	K	454	ENSP00000339585:Q454K	ENSP00000339585:Q454K	Q	+	1	0	ZNF449	134322470	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.314000	0.33597	2.275000	0.75901	0.529000	0.55759	CAG		0.368	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		5	80	5	80	---	---	---	---	A	134494804	C	A	134494804	3	1	141	1	0	0	0	0	1	0	0	0	17917	595	21	1	1374	1	ZNF449	23	134494804	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	57125292	134494804	20775756	116	6551										
ABCA4	24	broad.mit.edu	37	chr1	94506837	94506837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	aagtacaagcctgtgccaaaGcagttcttcaggaagagtgg	12	8	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.chr1:94506837G>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			Somatic					p.C1150C	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	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	19	75	---	---	---	---	A	94506837	G	A	94506837	2	1	142	1	0	0	0	0	0	0	0	1	34	963	34	2		2	ABCA4	1	94506837	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		94506837	154743784	1	6552										
SPRR2F	6705	broad.mit.edu	37	chr1	153085079	153085079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ggcactgctgaggtgggcagGactgtggacactttgatggt	17	7	0	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.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	6705				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		Somatic				SPRR2B_ENST00000368752.4_Intron	p.S44F	NM_001014450.1	NP_001014450.1	WXS	Illumina GAIIx	Phase_I	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	54	313	---	---	---	---	A	153085079	G	A	153085079	3	1	142	1	0	0	0	0	1	0	0	0	15100	1174	41	2	91	2	SPRR2F	1	153085079	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	58578242	153085079	96165542	2	6553										
OR6K6	128371	broad.mit.edu	37	chr1	158725008	158725008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	agatgtactttttccactcaCttggtatcacagaaagctgt	7	9	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.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		Somatic					p.L135I	NM_001005184.1	NP_001005184.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	A	158725008	C	A	158725008	3	1	142	1	0	0	0	0	1	0	0	0	11204	565	20	3	405	3	OR6K6	1	158725008	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	5639929	158725008	90525613	3	6554										
C1orf110	339512	broad.mit.edu	37	chr1	162824943	162824943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	tttggcatggaacagagatgCccttgctggggtctacgtcc	13	10	1	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.chr1:162824943C>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																																						ENST00000367912.2																			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		Somatic				C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D	p.G173D			WXS	Illumina GAIIx	Phase_I	Q86UF4	CA110_HUMAN			4	692	-								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	59	306	---	---	---	---	T	162824943	C	T	162824943	3	4	142	1	0	0	0	0	1	0	0	0	1983	739	26	2	391	2	C1orf110	1	162824943	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	4099935	162824943	86425678	4	6555										
RASAL2	9462	broad.mit.edu	37	chr1	178269157	178269157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	aagggggacaggagcagcagAcagattccaccaaagggcga	15	9	0	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.chr1:178269157A>G	ENST00000367649.3	+	3	713	c.361A>G	c.(361-363)Aca>Gca	p.T121A	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000448150.3_Missense_Mutation_p.T103A			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		Somatic	OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1945	RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A|RASAL2_ENST00000465723.1_3'UTR	p.T103A	NM_170692.2	NP_733793.2	WXS	Illumina GAIIx	Phase_I	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	10	66	---	---	---	---	G	178269157	A	G	178269157	3	3	142	1	0	0	0	0	1	0	0	0	13064	275	10	2	371	2	RASAL2	1	178269157	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	15444214	178269157	70981464	5	6556										
OBSCN	84033	broad.mit.edu	37	chr1	228509861	228509861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	tgtgcatcagcaaagagactCctgcccctgtggtgcctcca	10	14	1	1	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_ENST00000366707.4_Missense_Mutation_p.P2741S|OBSCN_ENST00000570156.2_Missense_Mutation_p.P6064S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S	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		Somatic				OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S	p.P6064S	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	T	228509861	C	T	228509861	3	4	142	1	0	0	0	0	1	0	0	0	10812	855	30	2	15533	2	OBSCN	1	228509861	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50240704	228509861	20740760	6	6557										
SPAST	6683	broad.mit.edu	37	chr2	32368485	32368485	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	gaactagcacaacttgctagGtgagtaatttggatttggtt	11	5	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.chr2:32368485G>T	ENST00000315285.3	+	14	1741		c.e14+1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2			spastin									p.?(1)		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)					AACTTGCTAGGTGAGTAATTT	0.254																																						ENST00000315285.3																			1	Unknown(1)	p.?(1)	prostate(1)	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.e14+1		spastin							51	52	51					2																	32368485		2203	4300	6503	SO:0001630	splice_region_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.chr2:32368485G>T	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.1616+1G>T	2.37:g.32368485G>T			Somatic				SPAST_ENST00000345662.1_Splice_Site		NM_014946.3	NP_055761.2	WXS	Illumina GAIIx	Phase_I	Q9UBP0	SPAST_HUMAN			14	1741	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)								Splice_Site	SNP	ENST00000315285.3	37		CCDS1778.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670006	0.88348	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAST	32221989	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.475000	0.90417	2.747000	0.94245	0.650000	0.86243	.		0.254	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	Intron	3	42	3	42	---	---	---	---	T	32368485	G	T	32368485	5	4	142	1	0	0	0	0	0	0	1	0	14996	1275	44	3	1671	3	SPAST	2	32368485	Splice_Site	SNP	G	TCGA-G9-6378-01A-11D-1786-08		32368485	210830888	7	6558										
NRP2	8828	broad.mit.edu	37	chr2	206562286	206562286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	agacccaccgtgcggaggtcGtttgaattccaaagatgctg	12	10	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.chr2:206562286G>A	ENST00000357785.5	+	2	123	c.92G>A	c.(91-93)cGt>cAt	p.R31H	NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000360409.3_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_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		Somatic				NRP2_ENST00000357118.4_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H	p.R31H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	WXS	Illumina GAIIx	Phase_I	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	24	462	---	---	---	---	A	206562286	G	A	206562286	3	1	142	1	0	0	0	0	1	0	0	0	10661	1145	40	2	98	2	NRP2	2	206562286	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	174193801	206562286	36637087	8	6559										
ABCB6	10058	broad.mit.edu	37	chr2	220081146	220081146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	gacgtaactggtaacagtccAggccagagagttccaaggtg	13	9	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.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		Somatic				ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	p.W304R	NM_005689.2	NP_005680.1	WXS	Illumina GAIIx	Phase_I	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	16	46	---	---	---	---	G	220081146	A	G	220081146	3	3	142	1	0	0	0	0	1	0	0	0	45	188	7	2	1682	2	ABCB6	2	220081146	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	13518860	220081146	23118227	9	6560										
PRSS48	345062	broad.mit.edu	37	chr4	152201037	152201037	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ggcaggtcagcctacactttGaccacaactttatctgtgga	9	11	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.chr4:152201037G>A	ENST00000455694.2	+	2	144	c.142G>A	c.(142-144)Gac>Aac	p.D48N	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_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		Somatic				SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	p.D48N	NM_183375.2	NP_899231.2	WXS	Illumina GAIIx	Phase_I	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	22	153	---	---	---	---	A	152201037	G	A	152201037	3	1	142	1	0	0	0	0	1	0	0	0	12630	1290	45	2	148	2	PRSS48	4	152201037	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		152201037	38953239	10	6561										
GPR98	84059	broad.mit.edu	37	chr5	90106488	90106488	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	gcaggaatggatatttccttCcccgagacaactgtggctgt	11	10	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.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			Somatic				GPR98_ENST00000425867.2_Silent_p.F798F	p.F5137F	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	48	300	---	---	---	---	T	90106488	C	T	90106488	2	4	142	1	0	0	0	0	0	0	0	1	6721	854	30	2		2	GPR98	5	90106488	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		90106488	90808772	11	6562										
RELL2	285613	broad.mit.edu	37	chr5	141017909	141017909	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ttcatgatctgccacgtgctCaagaagaagggctaccgctg	11	11	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.chr5:141017909C>G	ENST00000297164.3	+	1	1317	c.117C>G	c.(115-117)ctC>ctG	p.L39L	RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000444782.1_Silent_p.L39L|HDAC3_ENST00000305264.3_5'Flank	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			Somatic				RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Silent_p.L39L|RELL2_ENST00000521367.1_Intron	p.L39L	NM_173828.4	NP_776189.3	WXS	Illumina GAIIx	Phase_I	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	6	158	---	---	---	---	G	141017909	C	G	141017909	2	3	142	1	0	0	0	0	0	0	0	1	13219	813	29	4		4	RELL2	5	141017909	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50911421	141017909	39897351	12	6563										
STK19	8859	broad.mit.edu	37	chr6	31940215	31940215	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	tggaagaggcatcacctgatCccggagacctttggagttaa	12	9	1	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.chr6:31940215C>T	ENST00000375333.2	+	2	410	c.357C>T	c.(355-357)atC>atT	p.I119I	DXO_ENST00000337523.5_5'Flank|DXO_ENST00000478221.1_5'Flank|DXO_ENST00000375349.3_5'Flank|STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375331.2_Silent_p.I119I|DXO_ENST00000375356.3_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			Somatic				STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I	p.I119I	NM_004197.1	NP_004188.1	WXS	Illumina GAIIx	Phase_I	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	15	119	---	---	---	---	T	31940215	C	T	31940215	2	4	142	1	0	0	0	0	0	0	0	1	15291	845	30	2		2	STK19	6	31940215	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		31940215	139174852	13	6564										
PPT2	9374	broad.mit.edu	37	chr6	32122416	32122416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ctccccgcggcgtgggtcctGcttctgttgcctttcctgcc	11	17	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.chr6:32122416G>A	ENST00000324816.6	+	2	613	c.45G>A	c.(43-45)ctG>ctA	p.L15L	PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000437001.2_5'UTR|PPT2-EGFL8_ENST00000422437.1_Silent_p.L15L|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2_ENST00000375143.2_Silent_p.L15L|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000493548.1_3'UTR|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PRRT1_ENST00000375150.2_5'Flank			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	100532746							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			Somatic				PPT2_ENST00000445576.2_Silent_p.L15L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Silent_p.L21L|PPT2_ENST00000324816.6_Silent_p.L15L|PPT2_ENST00000395523.1_Silent_p.L15L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Silent_p.L15L|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375143.2_Silent_p.L15L	p.L15L			WXS	Illumina GAIIx	Phase_I					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	32	152	---	---	---	---	A	32122416	G	A	32122416	2	1	142	1	0	0	0	0	0	0	0	1	12412	1306	46	2		2	PPT2	6	32122416	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	182201	32122416	138992651	14	6565										
INHBA	3624	broad.mit.edu	37	chr7	41739857	41739857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	cctttgggagggcggccagcGcacaggacggacagtcgggg	19	11	0	0	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_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_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)	Somatic				INHBA_ENST00000442711.1_Missense_Mutation_p.A39V|INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	p.A39V	NM_002192.2	NP_002183.1	WXS	Illumina GAIIx	Phase_I	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	57	374	---	---	---	---	A	41739857	G	A	41739857	3	1	142	1	0	0	0	0	1	0	0	0	7741	1087	38	2	1172	2	INHBA	7	41739857	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		41739857	117398806	15	6566										
ABCA13	154664	broad.mit.edu	37	chr7	48443343	48443343	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	acccgagctctgtctggaggCctgaagaggaagctctccct	12	13	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.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			Somatic					p.G3979G	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	10	42	---	---	---	---	A	48443343	C	A	48443343	2	1	142	1	0	0	0	0	0	0	0	1	31	726	26	3		3	ABCA13	7	48443343	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	6703486	48443343	110695320	16	6567										
IFNA13	3447	broad.mit.edu	37	chr9	21367472	21367472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	taatctttcttgcaagtttgTtgataaagagagggatctca	9	5	3	2	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		Somatic					p.T180A	NM_006900.3	NP_008831.3	WXS	Illumina GAIIx	Phase_I	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	30	155	---	---	---	---	C	21367472	T	C	21367472	3	2	142	1	0	0	0	0	1	0	0	0	7533	1725	60	2	38	2	IFNA13	9	21367472	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08		21367472	119845959	17	6568										
FAM69B	138311	broad.mit.edu	37	chr9	139617909	139617909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	cacccgaggccaccgtgcgcCgcttcctgcagggccgccgc	13	20	0	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.chr9:139617909C>T	ENST00000371692.4	+	5	1075	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.R240C|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_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		Somatic				FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C|SNHG7_ENST00000414282.1_RNA	p.R240C			WXS	Illumina GAIIx	Phase_I	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	5	31	---	---	---	---	T	139617909	C	T	139617909	3	4	142	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	18	6569										
FAM166A	401565	broad.mit.edu	37	chr9	140140297	140140297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	agcgcagctgcggaaagaagCcggcatagctgtggagggaa	17	8	0	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		Somatic				FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	p.G22D	NM_001001710.1	NP_001001710.1	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	T	140140297	C	T	140140297	3	4	142	1	0	0	0	0	1	0	0	0	5481	739	26	2	912	2	FAM166A	9	140140297	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	522388	140140297	1073134	19	6570										
KLC2	64837	broad.mit.edu	37	chr11	66026227	66026227	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ggcgaagccgagcctggctcGcaggagcgctgcatcctcct	14	15	0	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_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000421552.1_Silent_p.S54S|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394065.2_5'Flank|KLC2_ENST00000316924.5_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			Somatic	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_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S	p.S54S	NM_001134775.1	NP_001128247.1	WXS	Illumina GAIIx	Phase_I	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	5	61	---	---	---	---	T	66026227	G	T	66026227	2	4	142	1	0	0	0	0	0	0	0	1	8334	1074	38	3		3	KLC2	11	66026227	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		66026227	68980289	20	6571										
ITPR2	3709	broad.mit.edu	37	chr12	26864155	26864156	+	Frame_Shift_Ins	INS	-	-	T													0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	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)agcfs		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		Somatic					p.S301fs	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	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	142	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	21	6572										
NCKAP5L	57701	broad.mit.edu	37	chr12	50186731	50186731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	gtctgggggtgggaaggtccCaatgccactgtccaaggttc	15	10	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.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		Somatic					p.G1127R	NM_001037806.3	NP_001032895.2	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	T	50186731	C	T	50186731	3	4	142	1	0	0	0	0	1	0	0	0	10224	594	21	2	637	2	NCKAP5L	12	50186731	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	23322576	50186731	83665164	22	6573										
ZFYVE26	23503	broad.mit.edu	37	chr14	68220894	68220894	+	Missense_Mutation	SNP	G	G	T													0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	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	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	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		Somatic				ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	p.T2341N	NM_015346.3	NP_056161.2	WXS	Illumina GAIIx	Phase_I	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	27	188	---	---	---	---	T	68220894	G	T	68220894	3	4	142	1	0	0	0	0	1	0	0	0	17665	1261	44	3	617	3	ZFYVE26	14	68220894	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		68220894	39128646	23	6574	12	2								
ZFYVE26	23503	broad.mit.edu	37	chr14	68220896	68220896	+	Silent	SNP	C	C	A													0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	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	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Silent_p.V186V	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			Somatic				ZFYVE26_ENST00000557306.1_Silent_p.V186V	p.V2340V	NM_015346.3	NP_056161.2	WXS	Illumina GAIIx	Phase_I	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	26	187	---	---	---	---	A	68220896	C	A	68220896	2	1	142	1	0	0	0	0	0	0	0	1	17665	813	29	3		3	ZFYVE26	14	68220896	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	2	68220896	39128644	24	6575	12	2								
GLDN	342035	broad.mit.edu	37	chr15	51676022	51676022	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	ttgccaggacacaacggattGgatggacagcctggtcctca	12	11	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.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			Somatic				GLDN_ENST00000396399.2_Silent_p.L34L	p.L158L	NM_181789.2	NP_861454.2	WXS	Illumina GAIIx	Phase_I	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	9	44	---	---	---	---	A	51676022	G	A	51676022	2	1	142	1	0	0	0	0	0	0	0	1	6434	1339	47	2		2	GLDN	15	51676022	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		51676022	50855370	25	6576										
CYP1A1	1543	broad.mit.edu	37	chr15	75013056	75013056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	cacttaacaccttgtcgataGcaccatcaggggtgagaaac	9	11	1	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.chr15:75013056G>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		Somatic				CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V	p.A438V			WXS	Illumina GAIIx	Phase_I	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	36	157	---	---	---	---	A	75013056	G	A	75013056	3	1	142	1	0	0	0	0	1	0	0	0	4149	971	34	2	229	2	CYP1A1	15	75013056	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	23337034	75013056	27518336	26	6577										
ZNF629	23361	broad.mit.edu	37	chr16	30794665	30794665	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	tgggtcagctccgagctctgGatgaagctcttcccgcactc	11	14	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.chr16:30794665G>T	ENST00000262525.4	-	3	1191	c.984C>A	c.(982-984)atC>atA	p.I328I		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I328I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCGAGCTCTGGATGAAGCTCT	0.637																																						ENST00000262525.4																			1	Substitution - coding silent(1)	p.I328I(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(982-984)atC>atA		zinc finger protein 629							66	71	69					16																	30794665		2195	4300	6495	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794665G>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.984C>A	16.37:g.30794665G>T			Somatic					p.I328I	NM_001080417.1	NP_001073886.1	WXS	Illumina GAIIx	Phase_I	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1191	-			328					Q15938	Silent	SNP	ENST00000262525.4	37	c.984C>A	CCDS45463.1																																																																																				0.637	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	76	4	76	---	---	---	---	T	30794665	G	T	30794665	2	4	142	1	0	0	0	0	0	0	0	1	18050	1164	41	3		3	ZNF629	16	30794665	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		30794665	59560088	27	6578										
PRRG1	5638	broad.mit.edu	37	chrX	37285150	37285150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.15212981744422	9.79310344827586	0.612068965517241	1	1	0	acgctacccaagagctaatgGgttttttgaagaaataagac	9	7	0	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.chrX:37285150G>A	ENST00000542554.1	+	4	340	c.68G>A	c.(67-69)gGg>gAg	p.G23E	TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000378628.4_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		Somatic				PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E	p.G23E	NM_001173489.1	NP_001166960.1	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	A	37285150	G	A	37285150	3	1	142	1	0	0	0	0	1	0	0	0	12605	1232	43	2	74	2	PRRG1	23	37285150	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		37285150	117985410	28	6579										
SPAG17	200162	broad.mit.edu	37	chr1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	atccactatccgagtaccatCtttcctttcaactatgacaa	3	13	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.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		Somatic					p.D1445H	NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	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	14	50	---	---	---	---	G	118554950	C	G	118554950	3	3	143	1	0	0	0	0	1	0	0	0	14979	913	32	4	2414	4	SPAG17	1	118554950	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		118554950	130695671	1	6580										
FAM123C	205147	broad.mit.edu	37	chr2	131520858	131520858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	acaagaaggaagctgagagcCcaggcactcctgccgccacc	11	15	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I					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	18	55	---	---	---	---	T	131520858	C	T	131520858	3	4	143	1	0	0	0	0	1	0	0	0	5424	623	22	2	1215	2	FAM123C	2	131520858	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		131520858	111678515	2	6581										
CADM2	253559	broad.mit.edu	37	chr3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	aatagtggctgtagttgtatTtgtcacgctgtgttctatct	10	6	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.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		Somatic				CADM2_ENST00000405615.2_Missense_Mutation_p.F381C|CADM2_ENST00000407528.2_Missense_Mutation_p.F379C	p.F348C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	G	86114827	T	G	86114827	3	3	143	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	3	6582										
FAM174A	345757	broad.mit.edu	37	chr5	99871330	99871330	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	ctaagcgggcccctggcagtCctgctgcaggcagccgaggc	15	15	0	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.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			Somatic					p.V32V	NM_198507.1	NP_940909.1	WXS	Illumina GAIIx	Phase_I	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	7	82	---	---	---	---	T	99871330	C	T	99871330	2	4	143	1	0	0	0	0	0	0	0	1	5495	842	30	2		2	FAM174A	5	99871330	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		99871330	81043930	4	6583										
HTR5A	3361	broad.mit.edu	37	chr7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	tgacccagagatggatttacCtgtgaacctaacctcctttt	7	11	0	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.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_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		Somatic				HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000543018.1_Intron	p.P4L	NM_024012.3	NP_076917.1	WXS	Illumina GAIIx	Phase_I	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	27	133	---	---	---	---	T	154862620	C	T	154862620	3	4	143	1	0	0	0	0	1	0	0	0	7450	681	24	2	13	2	HTR5A	7	154862620	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		154862620	4276043	5	6584										
GSDMD	79792	broad.mit.edu	37	chr8	144643541	144643541	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	gctcccgtctggctgccagaCgtccttctcttcccggataa	9	16	2	1	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.(682-684)gaC>gaT		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			Somatic				GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D	p.D228D	NM_001166237.1	NP_001159709.1	WXS	Illumina GAIIx	Phase_I	P57764	GSDMD_HUMAN			9	1567	+			228					D3DWJ9|Q96Q98	Splice_Site	SNP	ENST00000526406.1	37	c.684C>T	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	3	14	---	---	---	---	T	144643541	C	T	144643541	5	4	143	1	0	0	0	0	0	0	1	0	6819	550	19	2	702	2	GSDMD	8	144643541	Splice_Site	SNP	C	TCGA-G9-6384-01A-11D-1786-08		144643541	1720481	6	6585										
NRAP	4892	broad.mit.edu	37	chr10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	gggcagtggatgtttgtagtCctgattgctggccagggtct	16	7	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.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_ENST00000369358.4_Missense_Mutation_p.D1145Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y	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		Somatic				NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y	p.D1145Y			WXS	Illumina GAIIx	Phase_I	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	13	81	---	---	---	---	A	115372082	C	A	115372082	3	1	143	1	0	0	0	0	1	0	0	0	10638	855	30	3	1835	3	NRAP	10	115372082	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		115372082	20162665	7	6586										
KNDC1	85442	broad.mit.edu	37	chr10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	ggagtccgaggagaggggcgGccagagggagggagaaggtg	24	5	0	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.chr10:135012126G>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		Somatic				KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V	p.G705V			WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	T	135012126	G	T	135012126	3	4	143	1	0	0	0	0	1	0	0	0	8426	1203	42	3	2168	3	KNDC1	10	135012126	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	19640044	135012126	522621	8	6587										
ST5	6764	broad.mit.edu	37	chr11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	acagtacacctctggcaaccGgggccctttcccacttggct	9	16	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.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000534278.1_Intron|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G	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		Somatic				ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R791G	p.R791G	NM_005418.3	NP_005409.3	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	C	8729383	G	C	8729383	3	2	143	1	0	0	0	0	1	0	0	0	15219	1115	39	4	1078	4	ST5	11	8729383	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		8729383	126277133	9	6588										
CLK3	1198	broad.mit.edu	37	chr15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	gggaggctgcccggctagaaAtcaacgtgctcaaaaaaatc	11	10	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.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|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		Somatic				CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR	p.I350V	NM_001130028.1	NP_001123500.1	WXS	Illumina GAIIx	Phase_I	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	7	42	---	---	---	---	G	74917313	A	G	74917313	3	3	143	1	0	0	0	0	1	0	0	0	3538	101	4	2	1070	2	CLK3	15	74917313	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		74917313	27614079	10	6589										
RASGRF1	5923	broad.mit.edu	37	chr15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	ccagcaggtaaagccccgagGgccgcgagctcgagtcgctc	14	15	0	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.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		Somatic				RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	p.P62L	NM_002891.4	NP_002882.3	WXS	Illumina GAIIx	Phase_I	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	16	47	---	---	---	---	A	79382656	G	A	79382656	3	1	143	1	0	0	0	0	1	0	0	0	13072	1232	43	2	3748	2	RASGRF1	15	79382656	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	4465343	79382656	23148736	11	6590										
KIAA0556	23247	broad.mit.edu	37	chr16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	cctgctcacgagagaaaaagGaggtaaatgtgtccctggcg	13	9	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.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*		Somatic					p.E21*	NM_015202.2	NP_056017.2	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	T	27585275	G	T	27585275	4	4	143	1	0	0	0	0	0	1	0	0	8183	1175	41	3	67	3	KIAA0556	16	27585275	Nonsense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		27585275	62769478	12	6591										
ZNF689	115509	broad.mit.edu	37	chr16	30620889	30620889	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	gggtactcctgcggatctagAgcagccggttcccagtcatc	12	13	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.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			Somatic				ZNF689_ENST00000566673.1_5'UTR	p.A92A	NM_138447.1	NP_612456.1	WXS	Illumina GAIIx	Phase_I	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	20	64	---	---	---	---	C	30620889	A	C	30620889	2	2	143	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	13	6592										
THEG	51298	broad.mit.edu	37	chr19	375680	375680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	cacctgatttcaggaatgtcCtcttccaagtccttgtccag	7	13	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.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			Somatic				THEG_ENST00000346878.2_Silent_p.E97E	p.E97E	NM_016585.4	NP_057669.1	WXS	Illumina GAIIx	Phase_I	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	36	169	---	---	---	---	T	375680	C	T	375680	2	4	143	1	0	0	0	0	0	0	0	1	15854	680	24	2		2	THEG	19	375680	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		375680	58753303	14	6593										
USP16	10600	broad.mit.edu	37	chr21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.18055555555556	4.72222222222222	0	1	1	0	accgaaagaactcttttctcAggtctgtaaaaagtgagtat	8	7	3	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.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	10600				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		Somatic				USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R	p.Q284R	NM_001032410.1	NP_001027582.1	WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	G	30411465	A	G	30411465	3	3	143	1	0	0	0	0	1	0	0	0	17044	188	7	2	877	2	USP16	21	30411465	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		30411465	17718430	15	6594										
KIF1B	23095	broad.mit.edu	37	chr1	10363477	10363477	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgtcaaagagatttgctAtgaggttgctctcaatgact	11	7	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.chr1:10363477A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_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			Somatic				KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	p.Y745F	NM_183416.3	NP_904325.2	WXS	Illumina GAIIx	Phase_I	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	6	71	---	---	---	---	T	10363477	A	T	10363477	1	4	144	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	6595										
FLG2	388698	broad.mit.edu	37	chr1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgacccatgttgaccatagCcagatgattgacttgagcca	9	10	0	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.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1088D	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	11	381	---	---	---	---	T	152326999	C	T	152326999	3	4	144	1	0	0	0	0	1	0	0	0	5923	739	26	2	3916	2	FLG2	1	152326999	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	141963522	152326999	96923622	2	6596										
OR2G6	391211	broad.mit.edu	37	chr1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagctgcgggccgccaaaaGgcctttgggacctgttcgtc	13	13	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.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		Somatic					p.K236N	NM_001013355.1	NP_001013373.1	WXS	Illumina GAIIx	Phase_I	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	17	65	---	---	---	---	C	248685655	G	C	248685655	3	2	144	1	0	0	0	0	1	0	0	0	11000	991	35	4	710	4	OR2G6	1	248685655	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	96358656	248685655	564966	3	6597										
AMBN	258	broad.mit.edu	37	chr4	71472192	71472192	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctaaggatgacattcccggCctgccaaggagcccttcagg	11	14	1	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.chr4:71472192C>A	ENST00000322937.6	+	13	1192	c.1089C>A	c.(1087-1089)ggC>ggA	p.G363G	AMBN_ENST00000449493.2_Silent_p.G348G	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	363					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.G363G(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACATTCCCGGCCTGCCAAGGA	0.557																																						ENST00000322937.6																			2	Substitution - coding silent(2)	p.G363G(2)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1087-1089)ggC>ggA		ameloblastin (enamel matrix protein)							48	49	48					4																	71472192		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472192C>A	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.1089C>A	4.37:g.71472192C>A			Somatic				AMBN_ENST00000449493.2_Silent_p.G348G	p.G363G	NM_016519.5	NP_057603.1	WXS	Illumina GAIIx	Phase_I	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1192	+			363					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1089C>A	CCDS3543.1																																																																																				0.557	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		3	37	3	37	---	---	---	---	A	71472192	C	A	71472192	2	1	144	1	0	0	0	0	0	0	0	1	563	726	26	3		3	AMBN	4	71472192	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		71472192	119682084	4	6598										
PCDHGB7	56099	broad.mit.edu	37	chr5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacattactgacgtcaatgAcaacgcgccggttttcggac	10	12	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.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_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	56099							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		Somatic				PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.D447G	NM_018927.3	NP_061750.1	WXS	Illumina GAIIx	Phase_I			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	7	54	---	---	---	---	G	140798766	A	G	140798766	3	3	144	1	0	0	0	0	1	0	0	0	11568	275	10	2	1342	2	PCDHGB7	5	140798766	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		140798766	40116494	5	6599										
FAT2	2196	broad.mit.edu	37	chr5	150922324	150922324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctattgtcattgacgtcTcccacttggatgttgacaga	10	10	2	3	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			Somatic					p.G2788G	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	3	181	---	---	---	---	C	150922324	T	C	150922324	2	2	144	1	0	0	0	0	0	0	0	1	5690	1538	54	2		2	FAT2	5	150922324	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08	10123558	150922324	29992936	6	6600										
NOTCH4	4855	broad.mit.edu	37	chr6	32163814	32163814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacgttggtgagcgacgtcCgccggcgctagcccagcctg	14	14	0	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.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			Somatic				NOTCH4_ENST00000375023.3_Silent_p.A1804A	p.G181R			WXS	Illumina GAIIx	Phase_I	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	3	11	---	---	---	---	T	32163814	C	T	32163814	2	4	144	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		32163814	138951253	7	6601										
ZNF292	23036	broad.mit.edu	37	chr6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcttgttggatatgagaaTtaaacatctaatcaaaacaa	5	6	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.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		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	p.I196N	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	A	87943091	T	A	87943091	3	1	144	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	55779277	87943091	83171976	8	6602										
SMU1	55234	broad.mit.edu	37	chr9	33056918	33056918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacacccttactgtgtgcCctctcaaatctccttaaaca	5	14	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.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			Somatic				SMU1_ENST00000536631.1_Silent_p.R143R	p.R304R	NM_018225.2	NP_060695.2	WXS	Illumina GAIIx	Phase_I	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	12	174	---	---	---	---	T	33056918	C	T	33056918	2	4	144	1	0	0	0	0	0	0	0	1	14817	622	22	2		2	SMU1	9	33056918	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		33056918	108156513	9	6603										
APBB1	322	broad.mit.edu	37	chr11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcctggctggcctcctccGccaaggtcaaggtcacattg	11	15	2	0	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_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000389906.2_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_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		Somatic				APBB1_ENST00000609360.1_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V	p.A96V			WXS	Illumina GAIIx	Phase_I	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	10	308	---	---	---	---	A	6432291	G	A	6432291	3	1	144	1	0	0	0	0	1	0	0	0	759	1087	38	2	1897	2	APBB1	11	6432291	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		6432291	128574225	10	6604										
ATP5B	506	broad.mit.edu	37	chr12	57032140	57032140	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcagccagcttatcagcTtttgccacagcttcttcaat	5	13	5	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.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	ATP5B_ENST00000552919.1_Silent_p.K508K|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000179765.5_5'Flank|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_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			Somatic				ATP5B_ENST00000552919.1_Silent_p.K508K	p.K519K	NM_001686.3	NP_001677.2	WXS	Illumina GAIIx	Phase_I	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	3	215	---	---	---	---	C	57032140	T	C	57032140	2	2	144	1	0	0	0	0	0	0	0	1	1148	1606	56	2		2	ATP5B	12	57032140	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08		57032140	76819755	11	6605										
CTDSP2	10106	broad.mit.edu	37	chr12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcgcgaaaacagcagaaaAgggccttgaagatgttacgt	14	7	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.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Intron	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		Somatic				CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	p.L41P	NM_005730.3	NP_005721.3	WXS	Illumina GAIIx	Phase_I	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	3	123	---	---	---	---	G	58223322	A	G	58223322	3	3	144	1	0	0	0	0	1	0	0	0	4004	72	3	2	721	2	CTDSP2	12	58223322	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08	1191182	58223322	75628573	12	6606										
LGR5	8549	broad.mit.edu	37	chr12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggttggttgccatgtcaTtggttttttgtccatttttg	12	5	1	0	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	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|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		Somatic				LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T	p.I640T			WXS	Illumina GAIIx	Phase_I	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	21	57	---	---	---	---	C	71977709	T	C	71977709	3	2	144	1	0	0	0	0	1	0	0	0	8757	1493	52	2	1989	2	LGR5	12	71977709	Missense_Mutation	SNP	T	TCGA-G9-6385-01A-11D-1786-08	13754387	71977709	61874186	13	6607										
C14orf153	84334	broad.mit.edu	37	chr14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcttcatgggaaaagtggCcctggaaaggatttggaaca	12	7	2	0	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	RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_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		Somatic				APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR	p.A189D	NM_032374.3	NP_115750.2	WXS	Illumina GAIIx	Phase_I					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	4	191	---	---	---	---	A	104056568	C	A	104056568	3	1	144	1	0	0	0	0	1	0	0	0	1753	739	26	3	584	3	C14orf153	14	104056568	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		104056568	3292972	14	6608										
NFE2L1	4779	broad.mit.edu	37	chr17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctccaagatgtgacaggccCagacaacggggtgcgagaaa	13	11	0	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.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_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		Somatic				NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q	p.P136Q	NM_003204.2	NP_003195.1	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	A	46128887	C	A	46128887	3	1	144	1	0	0	0	0	1	0	0	0	10367	594	21	1	409	1	NFE2L1	17	46128887	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		46128887	35066323	15	6609										
ZNF562	54811	broad.mit.edu	37	chr19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacaaggacttaccatgggAcatatcaaaggctgacatcc	8	11	1	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.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T	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		Somatic				ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000453792.2_Intron	p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	WXS	Illumina GAIIx	Phase_I	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	5	213	---	---	---	---	T	9771402	A	T	9771402	3	4	144	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	16	6610										
CCDC105	126402	broad.mit.edu	37	chr19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcttcaaggagcggctcCaagccgtggacctcatgaac	11	13	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		Somatic					p.Q243K	NM_173482.2	NP_775753.2	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	A	15131324	C	A	15131324	3	1	144	1	0	0	0	0	1	0	0	0	2740	595	21	1	737	1	CCDC105	19	15131324	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	5359922	15131324	43997659	17	6611										
ZNF766	90321	broad.mit.edu	37	chr19	52793389	52793389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacttggattaacctttcaGttacctctgccagaactgga	7	11	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.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.Q130Q	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			Somatic				ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA	p.Q115Q	NM_001010851.2	NP_001010851.1	WXS	Illumina GAIIx	Phase_I	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	4	67	---	---	---	---	A	52793389	G	A	52793389	2	1	144	1	0	0	0	0	0	0	0	1	18137	1020	36	2		2	ZNF766	19	52793389	Silent	SNP	G	TCGA-G9-6385-01A-11D-1786-08	37662065	52793389	6335594	18	6612										
CCT8L2	150160	broad.mit.edu	37	chr22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctcctcgtcgacctccccCaacaccactgccacattaat	4	19	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.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		Somatic					p.L296F	NM_014406.4	NP_055221.1	WXS	Illumina GAIIx	Phase_I	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	5	233	---	---	---	---	A	17072553	C	A	17072553	3	1	144	1	0	0	0	0	1	0	0	0	2961	593	21	1	789	1	CCT8L2	22	17072553	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		17072553	34232013	19	6613										
KANK4	163782	broad.mit.edu	37	chr1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gttgacttcaatgcccttatCacacgactccctggtcaaga	7	13	3	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.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	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	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		Somatic				KANK4_ENST00000354381.3_Intron	p.D429N	NM_181712.4	NP_859063.3	WXS	Illumina GAIIx	Phase_I	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	6	224	---	---	---	---	T	62739491	C	T	62739491	3	4	145	1	0	0	0	0	1	0	0	0	7979	826	29	2	1734	2	KANK4	1	62739491	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		62739491	186511130	1	6614										
HFM1	164045	broad.mit.edu	37	chr1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tataactaccaattcaagttCccttgcatctgtctcttcta	3	12	4	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.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*		Somatic				HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	p.E963*	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	7	86	---	---	---	---	A	91781959	C	A	91781959	4	1	145	1	0	0	0	0	0	1	0	0	7083	864	30	3	1476	3	HFM1	1	91781959	Nonsense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	29042468	91781959	157468662	2	6615										
RC3H1	149041	broad.mit.edu	37	chr1	173941766	173941767	+	Splice_Site	INS	-	-	TA													0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	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_ENST00000367694.2_Splice_Site|RC3H1_ENST00000258349.4_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			Somatic				RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	145	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	3	6616										
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tactactgtgtcgttttttgCccttgcgaaacatttttcac	6	10	1	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.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D			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		Somatic				ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D	p.G5D			WXS	Illumina GAIIx	Phase_I	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	5	231	---	---	---	---	T	9558813	C	T	9558813	3	4	145	1	0	0	0	0	1	0	0	0	7891	739	26	2	612	2	ITGB1BP1	2	9558813	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		9558813	233640560	4	6617										
SIX2	10736	broad.mit.edu	37	chr2	45233549	45233549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gatggagtcttctcatcctcCgagctgcctaacaccgactt	8	14	2	0	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			Somatic					p.S212S	NM_016932.4	NP_058628.3	WXS	Illumina GAIIx	Phase_I	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	39	105	---	---	---	---	T	45233549	C	T	45233549	2	4	145	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	5	6618										
SPEG	10290	broad.mit.edu	37	chr2	220331957	220331957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	caggacgtggacgtgggggcCggggagatggcgctgtttga	21	7	0	2	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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	57	104	---	---	---	---	T	220331957	C	T	220331957	2	4	145	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	6	6619										
DCBLD2	131566	broad.mit.edu	37	chr3	98519475	98519475	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tctcttggactcaggtgattAacttcgctgctgctatagcg	10	10	2	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.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			Somatic				DCBLD2_ENST00000326857.9_Silent_p.V616V	p.V602V	NM_080927.3	NP_563615.3	WXS	Illumina GAIIx	Phase_I	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	3	153	---	---	---	---	C	98519475	A	C	98519475	2	2	145	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	7	6620										
PFN2	5217	broad.mit.edu	37	chr3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	cattgtgcagtcaccatcgaCgtatagactatctctgatca	7	11	3	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.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000461930.1_3'UTR			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		Somatic				PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR	p.V80F			WXS	Illumina GAIIx	Phase_I	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	70	190	---	---	---	---	A	149686232	C	A	149686232	3	1	145	1	0	0	0	0	1	0	0	0	11768	536	19	3	294	3	PFN2	3	149686232	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	51166757	149686232	48336198	8	6621										
SKIV2L2	23517	broad.mit.edu	37	chr5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gcacttcaaatgaccaaattAgatttcaacacaggtactac	5	10	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.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		Somatic				SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	p.L409F	NM_015360.4	NP_056175.3	WXS	Illumina GAIIx	Phase_I	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	27	68	---	---	---	---	C	54642959	A	C	54642959	3	2	145	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	9	6622										
ZNF366	167465	broad.mit.edu	37	chr5	71739880	71739880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tccgacttggtggacagatcCtcgggtgtgcagagctgctg	15	10	0	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.chr5:71739880C>A	ENST00000318442.5	-	5	2428	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	646	Interaction with CTBP1.|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)	p.E646D(1)		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)		TGGACAGATCCTCGGGTGTGC	0.632																																						ENST00000318442.5																			1	Substitution - Missense(1)	p.E646D(1)	prostate(1)	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.(1936-1938)gaG>gaT		zinc finger protein 366							119	130	126					5																	71739880		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739880C>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.1938G>T	5.37:g.71739880C>A	ENSP00000313158:p.Glu646Asp		Somatic					p.E646D	NM_152625.1	NP_689838.1	WXS	Illumina GAIIx	Phase_I	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2428	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	646					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1938G>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187733	0.38609	.	.	ENSG00000178175	ENST00000318442	T	0.08458	3.09	5.35	0.497	0.16902	.	1.689920	0.02849	N	0.128940	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	0.999998	B	0.14438	0.01	B	0.11329	0.006	T	0.39522	-0.9610	10	0.59425	D	0.04	-3.5611	0.9776	0.01429	0.146:0.2409:0.3132:0.2999	.	646	Q8N895	ZN366_HUMAN	D	646	ENSP00000313158:E646D	ENSP00000313158:E646D	E	-	3	2	ZNF366	71775636	0.961000	0.32948	0.022000	0.16811	0.066000	0.16364	0.153000	0.16323	0.166000	0.19597	-0.126000	0.14955	GAG		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			5	284	5	284	---	---	---	---	A	71739880	C	A	71739880	3	1	145	1	0	0	0	0	1	0	0	0	17867	680	24	1	300	1	ZNF366	5	71739880	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	17096921	71739880	109175380	10	6623										
ZNF366	167465	broad.mit.edu	37	chr5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	ggtagtaggggtagggcgtgGgcaggaatggagtgggcgtt	23	3	0	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.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	167465				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		Somatic					p.P171L	NM_152625.1	NP_689838.1	WXS	Illumina GAIIx	Phase_I	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	5	182	---	---	---	---	A	71756812	G	A	71756812	3	1	145	1	0	0	0	0	1	0	0	0	17867	1232	43	2	1738	2	ZNF366	5	71756812	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	16932	71756812	109158448	11	6624										
PCDHA13	56136	broad.mit.edu	37	chr5	140261920	140261920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tctggcttctgatcctcgcaGcctgggagacgggtagtggc	15	11	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.chr5:140261920G>T	ENST00000289272.2	+	1	67	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A23S(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)			GATCCTCGCAGCCTGGGAGAC	0.602																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			1	Substitution - Missense(1)	p.A23S(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.(67-69)Gcc>Tcc									115	121	119					5																	140261920		2203	4300	6503	SO:0001583	missense	56136							g.chr5:140261920G>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.67G>T	5.37:g.140261920G>T	ENSP00000289272:p.Ala23Ser		Somatic				PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.A23S	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	67	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.67G>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	3.300	-0.143138	0.06669	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50548	0.74;0.8	5.4	-1.87	0.07737	.	.	.	.	.	T	0.32526	0.0832	L	0.42487	1.325	0.09310	N	1	B;B;B	0.20550	0.027;0.027;0.046	B;B;B	0.18263	0.014;0.015;0.021	T	0.24154	-1.0168	9	0.22109	T	0.4	.	5.6641	0.17684	0.185:0.0:0.4373:0.3777	.	23;23;23	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	23	ENSP00000386821:A23S;ENSP00000289272:A23S	ENSP00000289272:A23S	A	+	1	0	PCDHA13	140242104	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.922000	0.04004	-0.375000	0.07955	-0.314000	0.08810	GCC		0.602	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		5	246	5	246	---	---	---	---	T	140261920	G	T	140261920	3	4	145	1	0	0	0	0	1	0	0	0	11523	971	34	3	69	3	PCDHA13	5	140261920	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	68505108	140261920	40653340	12	6625										
RWDD2A	112611	broad.mit.edu	37	chr6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	atcttatttcctgaacagaaAgcttgtatatgaaccatcta	5	8	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.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M|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		Somatic				RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	p.K139M	NM_033411.3	NP_219479.2	WXS	Illumina GAIIx	Phase_I	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	42	69	---	---	---	---	T	83905528	A	T	83905528	3	4	145	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	13	6626										
TNFAIP3	7128	broad.mit.edu	37	chr6	138197133	138197133	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	ctttctctttctttgaacagAcaaaatgctaagaagtttgg	7	7	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.chr6:138197133A>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.(634-636)gAc>gGc		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			Somatic				TNFAIP3_ENST00000485192.1_3'UTR	p.D212G	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	WXS	Illumina GAIIx	Phase_I	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.635A>G	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	20	78	---	---	---	---	G	138197133	A	G	138197133	5	3	145	1	0	0	0	0	0	0	1	0	16271	289	10	2	649	2	TNFAIP3	6	138197133	Splice_Site	SNP	A	TCGA-G9-6494-01A-11D-1786-08	54291605	138197133	32917934	14	6627										
QKI	9444	broad.mit.edu	37	chr6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gatggagcttgcgattctgaAtggcacctacagagatgcca	12	9	1	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.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000361195.2_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000275262.7_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		Somatic				QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_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	WXS	Illumina GAIIx	Phase_I	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	20	41	---	---	---	---	G	163983069	A	G	163983069	3	3	145	1	0	0	0	0	1	0	0	0	12873	101	4	2	620	2	QKI	6	163983069	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08	25785936	163983069	7131998	15	6628										
EVX1	2128	broad.mit.edu	37	chr7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	actgcgccaccgggaacgccGagtaccagcacagcaaaggt	12	14	0	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.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000519050.1_RNA			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		Somatic				EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron	p.E137K			WXS	Illumina GAIIx	Phase_I	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	4	41	---	---	---	---	A	27283058	G	A	27283058	3	1	145	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		27283058	131855605	16	6629										
TARP	6966	broad.mit.edu	37	chr7	38305254	38305254	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	agaaaaatagtgggcttgggGgaaacatctgcatcaagttg	13	5	2	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.chr7:38305254G>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			6966							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			Somatic						NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	WXS	Illumina GAIIx	Phase_I					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	81	196	---	---	---	---	A	38305254	G	A	38305254	1	1	145	0	1	0	0	0	0	0	0	0	15555	1232	43	2		2	TARP	7	38305254	RNA	SNP	G	TCGA-G9-6494-01A-11D-1786-08	11022196	38305254	120833409	17	6630										
RP1	6101	broad.mit.edu	37	chr8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	agtcctttgatgctctgctgGataacttgtccaggaaggtg	12	8	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.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		Somatic					p.D68N	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	4	133	---	---	---	---	A	55533728	G	A	55533728	3	1	145	1	0	0	0	0	1	0	0	0	13532	1174	41	2	204	2	RP1	8	55533728	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		55533728	90830294	18	6631										
ERCC6	2074	broad.mit.edu	37	chr10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-													0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	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	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	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)ctagatfs	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		Somatic				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	p.LD208fs	NM_000124.2	NP_000115.1	WXS	Illumina GAIIx	Phase_I	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	145	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		50736488	84798259	19	6632										
ANO3	63982	broad.mit.edu	37	chr11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gccaagtattacaagatggaGattgtaaatcccatcacggg	10	8	1	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.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D|ANO3_ENST00000537978.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	31	---	---	---	---	T	26620449	G	T	26620449	3	4	145	1	0	0	0	0	1	0	0	0	698	933	33	3	1637	3	ANO3	11	26620449	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		26620449	108386067	20	6633										
KHNYN	23351	broad.mit.edu	37	chr14	24901309	24901309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gttgcctggggaagaggcgtGggagagagaagtggccctca	19	7	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.chr14:24901309G>T	ENST00000251343.5	+	3	981	c.842G>T	c.(841-843)tGg>tTg	p.W281L	CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L			O15037	KHNYN_HUMAN	KH and NYN domain containing	281							RNA binding (GO:0003723)	p.W281L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGGCGTGGGAGAGAGAA	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			1	Substitution - Missense(1)	p.W281L(1)	prostate(1)	kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(841-843)tGg>tTg		KH and NYN domain containing							77	80	79					14																	24901309		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901309G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.842G>T	14.37:g.24901309G>T	ENSP00000251343:p.Trp281Leu		Somatic	OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L	p.W281L			WXS	Illumina GAIIx	Phase_I	O15037	KHNYN_HUMAN			3	981	+			281					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.842G>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872113	0.17322	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.21031	2.03;2.03;2.03	4.44	2.58	0.30949	.	2.551980	0.01127	N	0.005919	T	0.16727	0.0402	N	0.24115	0.695	0.19300	N	0.999974	B;B	0.23128	0.08;0.047	B;B	0.19946	0.027;0.027	T	0.19910	-1.0291	10	0.42905	T	0.14	.	5.936	0.19165	0.1058:0.1941:0.7001:0.0	.	322;281	D3DS77;O15037	.;KHNYN_HUMAN	L	281	ENSP00000251343:W281L;ENSP00000451106:W281L;ENSP00000450799:W281L	ENSP00000251343:W281L	W	+	2	0	KHNYN	23971149	0.994000	0.37717	0.522000	0.27862	0.712000	0.41017	1.689000	0.37700	0.493000	0.27837	0.462000	0.41574	TGG		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			3	34	3	34	---	---	---	---	T	24901309	G	T	24901309	3	4	145	1	0	0	0	0	1	0	0	0	8150	1357	47	1	848	1	KHNYN	14	24901309	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		24901309	82448231	21	6634										
SIX1	6495	broad.mit.edu	37	chr14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tctcggcctccacgtaatgcGccttcagccacagttgctgc	9	16	2	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.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		Somatic				SIX1_ENST00000554986.1_Intron	p.A90V	NM_005982.3	NP_005973.1	WXS	Illumina GAIIx	Phase_I	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	6	189	---	---	---	---	A	61115639	G	A	61115639	3	1	145	1	0	0	0	0	1	0	0	0	14346	1087	38	2	593	2	SIX1	14	61115639	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	36214330	61115639	46233901	22	6635										
TSHR	7253	broad.mit.edu	37	chr14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	tcacctgcaaggatattcaaCgcatccccagcttaccgccc	6	17	2	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.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_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR			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		Somatic				TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C	p.R46C			WXS	Illumina GAIIx	Phase_I	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	31	92	---	---	---	---	T	81422160	C	T	81422160	3	4	145	1	0	0	0	0	1	0	0	0	16619	536	19	2	138	2	TSHR	14	81422160	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	20306521	81422160	25927380	23	6636										
FOXL1	2300	broad.mit.edu	37	chr16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gctgcctgccctggccgcctCgcccatgctgtatctgtacg	11	17	1	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.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		Somatic					p.S15L	NM_005250.2	NP_005241.1	WXS	Illumina GAIIx	Phase_I	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	18	73	---	---	---	---	T	86612373	C	T	86612373	3	4	145	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	24	6637										
GLP2R	9340	broad.mit.edu	37	chr17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	cagtacgtgtgttggcctcaTtcttctcctggaaatgtctc	9	11	4	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.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		Somatic				GLP2R_ENST00000574745.1_5'UTR	p.H108Q	NM_004246.1	NP_004237.1	WXS	Illumina GAIIx	Phase_I	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	15	140	---	---	---	---	A	9739734	T	A	9739734	3	1	145	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	25	6638										
MYH4	4622	broad.mit.edu	37	chr17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	catctcttctgtgaggttttTcacctttagattagaacaga	7	8	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.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		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.K980Q	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	38	90	---	---	---	---	G	10356642	T	G	10356642	3	3	145	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	26	6639										
CCDC57	284001	broad.mit.edu	37	chr17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gtgaggacatctttaaaggaTccaacacatcttctagatgc	8	9	3	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.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|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																																						ENST00000389641.4																			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		Somatic				CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G	p.D605G			WXS	Illumina GAIIx	Phase_I	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	5	92	---	---	---	---	C	80129645	T	C	80129645	3	2	145	1	0	0	0	0	1	0	0	0	2827	1435	50	2	957	2	CCDC57	17	80129645	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	69773003	80129645	1065565	27	6640										
ZNF799	90576	broad.mit.edu	37	chr19	12501649	12501649	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	ccagagtgaattctttcatgTacttttaagttaccaaaatg	6	7	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.chr19:12501649T>A	ENST00000430385.3	-	4	1763	c.1563A>T	c.(1561-1563)gtA>gtT	p.V521V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Silent_p.V489V	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			Somatic				ZNF799_ENST00000430385.3_Silent_p.V521V|CTD-3105H18.14_ENST00000435033.1_Intron	p.V489V			WXS	Illumina GAIIx	Phase_I	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	5	76	---	---	---	---	A	12501649	T	A	12501649	2	1	145	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		12501649	46627334	28	6641										
CCDC8	83987	broad.mit.edu	37	chr19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	ccgaaattctgcttccttggTggcgggcttagagatgactc	12	10	1	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.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		Somatic					p.T32A	NM_032040.4	NP_114429.2	WXS	Illumina GAIIx	Phase_I	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	3	78	---	---	---	---	C	46915974	T	C	46915974	3	2	145	1	0	0	0	0	1	0	0	0	2853	1696	59	2	1526	2	CCDC8	19	46915974	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	34414325	46915974	12213009	29	6642										
KLK2	3817	broad.mit.edu	37	chr19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-													0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	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	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs			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)aatfs		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		Somatic				KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs	p.N102fs			WXS	Illumina GAIIx	Phase_I	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	145	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	30	6643										
TPX2	22974	broad.mit.edu	37	chr20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	agaagtttctaaaaagtactGaggagcaagagctggagaag	13	4	1	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.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*		Somatic				TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*	p.E211*			WXS	Illumina GAIIx	Phase_I	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	24	54	---	---	---	---	T	30363692	G	T	30363692	4	4	145	1	0	0	0	0	0	1	0	0	16429	1291	45	3	653	3	TPX2	20	30363692	Nonsense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		30363692	32661828	31	6644										
ADA	100	broad.mit.edu	37	chr20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	gctgggagggcgatccctctCctcctggaaacaaaacagtg	12	12	1	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		Somatic				ADA_ENST00000537820.1_Missense_Mutation_p.R33S	p.R33S	NM_000022.2	NP_000013.2	WXS	Illumina GAIIx	Phase_I	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	14	66	---	---	---	---	A	43257807	C	A	43257807	3	1	145	1	0	0	0	0	1	0	0	0	230	854	30	3	1032	3	ADA	20	43257807	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	12894115	43257807	19767713	32	6645										
SFI1	9814	broad.mit.edu	37	chr22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-													0.0303030303030303	1	1	0.59040959040959	NA	0.59040959040959	1	1	0	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_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.R772fs	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)aggfs		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		Somatic				SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs	p.R772fs	NM_014775.3	NP_055590.2	WXS	Illumina GAIIx	Phase_I	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	145	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	33	6646										
SLC44A5	204962	broad.mit.edu	37	chr1	75708580	75708580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aacacacataccttcacaggCttagcagtggtcttacagaa	7	11	2	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.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000469525.1_5'Flank|SLC44A5_ENST00000370859.3_Silent_p.K154K|SLC44A5_ENST00000535611.1_Silent_p.K24K	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			Somatic				SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K	p.K154K	NM_152697.4	NP_689910.2	WXS	Illumina GAIIx	Phase_I	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	16	170	---	---	---	---	T	75708580	C	T	75708580	2	4	146	1	0	0	0	0	0	0	0	1	14639	796	28	2		2	SLC44A5	1	75708580	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08		75708580	173542041	1	6647										
LRRC8B	23507	broad.mit.edu	37	chr1	90058587	90058587	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	acagaacgtttacagacgtgCttagacaaatgttgacttaa	8	7	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.chr1:90058587C>A	ENST00000330947.2	+	6	2757	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	799					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)		TACAGACGTGCTTAGACAAAT	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.(2395-2397)tgC>tgA		leucine rich repeat containing 8 family, member B							105	99	101					1																	90058587		2203	4300	6503	SO:0001587	stop_gained	23507					integral to membrane		g.chr1:90058587C>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.2397C>A	1.37:g.90058587C>A	ENSP00000332674:p.Cys799*		Somatic				LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.C799*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.C799*|RP5-1007M22.2_ENST00000443562.1_RNA	p.C799*	NM_001134476.1	NP_001127948.1	WXS	Illumina GAIIx	Phase_I	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	2757	+		all_lung(203;0.17)	799					D3DT28|Q6UY21|Q8N106|Q92627	Nonsense_Mutation	SNP	ENST00000330947.2	37	c.2397C>A	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	41	8.944176	0.99012	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	.	.	.	6.16	5.22	0.72569	.	0.077718	0.56097	D	0.000029	.	.	.	.	.	.	0.43857	D	0.99645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3149	0.49386	0.0:0.8493:0.0:0.1507	.	.	.	.	X	799	.	.	C	+	3	2	LRRC8B	89831175	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.763000	0.26517	1.539000	0.49286	0.650000	0.86243	TGC		0.433	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		4	88	4	88	---	---	---	---	A	90058587	C	A	90058587	4	1	146	1	0	0	0	0	0	1	0	0	9022	805	28	3	2403	3	LRRC8B	1	90058587	Nonsense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	14350007	90058587	159192034	2	6648										
CLK2	1196	broad.mit.edu	37	chr1	155240637	155240637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tagctgtcctctcgccgacgCcgtcgtgtccggtcactact	10	16	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.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000536801.1_Silent_p.R44R|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			Somatic				CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R	p.R44R			WXS	Illumina GAIIx	Phase_I	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	16	215	---	---	---	---	T	155240637	C	T	155240637	2	4	146	1	0	0	0	0	0	0	0	1	3537	726	26	2		2	CLK2	1	155240637	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	65182050	155240637	94009984	3	6649										
ARHGEF11	9826	broad.mit.edu	37	chr1	156937915	156937915	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ccgagttccgattcatcaatGactagagaaacaaagaattc	7	9	2	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.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.(826-828)tCa>tTa		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			Somatic				ARHGEF11_ENST00000361409.2_Splice_Site_p.S236L	p.S276L	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	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.827C>T	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	15	46	---	---	---	---	A	156937915	G	A	156937915	5	1	146	1	0	0	0	0	0	0	1	0	896	1304	45	2	3985	2	ARHGEF11	1	156937915	Splice_Site	SNP	G	TCGA-G9-6499-01A-12D-1961-08	1697278	156937915	92312706	4	6650										
CACNA1E	777	broad.mit.edu	37	chr1	181701995	181701995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aacggcgcagccggcatcgcCgcgtcaggacagaaggcaag	15	13	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.chr1:181701995C>A	ENST00000367573.2	+	20	2773	c.2773C>A	c.(2773-2775)Cgc>Agc	p.R925S	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R906S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	925					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						CCGGCATCGCCGCGTCAGGAC	0.652																																						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.(2716-2718)Cgc>Agc		calcium channel, voltage-dependent, R type, alpha 1E subunit							61	70	67					1																	181701995		2143	4257	6400	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701995C>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.2773C>A	1.37:g.181701995C>A	ENSP00000356545:p.Arg925Ser		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R925S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R906S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R876S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R532S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R857S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R925S	p.R906S	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			19	2881	+			925					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2716C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681349	0.29872	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.87;-3.88;-3.86;-3.88;-3.94;-3.87;-3.86	4.13	4.13	0.48395	.	0.384308	0.28371	N	0.015585	D	0.85080	0.5615	N	0.08118	0	0.25170	N	0.990287	B;P;B	0.38827	0.284;0.649;0.415	B;B;B	0.32624	0.072;0.149;0.072	T	0.77000	-0.2750	10	0.09590	T	0.72	.	10.1053	0.42530	0.3298:0.6702:0.0:0.0	.	906;925;925	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	925;906;876;857;532;906;925	ENSP00000356542:R925S;ENSP00000434814:R906S;ENSP00000350183:R876S;ENSP00000351101:R857S;ENSP00000356539:R532S;ENSP00000353222:R906S;ENSP00000356545:R925S	ENSP00000350183:R876S	R	+	1	0	CACNA1E	179968618	0.499000	0.26083	0.967000	0.41034	0.928000	0.56348	1.167000	0.31847	2.592000	0.87571	0.555000	0.69702	CGC		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	187	5	187	---	---	---	---	A	181701995	C	A	181701995	3	1	146	1	0	0	0	0	1	0	0	0	2542	652	23	1	2851	1	CACNA1E	1	181701995	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	24764080	181701995	67548626	5	6651										
TMEM63A	9725	broad.mit.edu	37	chr1	226059717	226059717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tcaaagtcttgttgacctgaGgaggaagtcgatgacaatct	11	7	3	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.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			Somatic					p.S101S	NM_014698.2	NP_055513.2	WXS	Illumina GAIIx	Phase_I	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	4	22	---	---	---	---	A	226059717	G	A	226059717	2	1	146	1	0	0	0	0	0	0	0	1	16187	987	35	2		2	TMEM63A	1	226059717	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	44357722	226059717	23190904	6	6652										
SIPA1L2	57568	broad.mit.edu	37	chr1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aacacacattttcggtacatGgattatgcactttgactatg	7	8	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.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.P740Q(1)		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)				TTCGGTACATGGATTATGCAC	0.433																																						ENST00000366630.1																			1	Substitution - Missense(1)	p.P740Q(1)	lung(1)	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.(2218-2220)cCa>cAa		signal-induced proliferation-associated 1 like 2							184	179	180					1																	232607141		2047	4227	6274	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232607141G>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.2219C>A	1.37:g.232607141G>T	ENSP00000355589:p.Pro740Gln		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q	p.P740Q			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			7	2577	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	740			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2219C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261452	0.95368	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93906	-3.31;-3.31	5.68	5.68	0.88126	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97558	1.0096	10	0.87932	D	0	-24.1884	20.1594	0.98130	0.0:0.0:1.0:0.0	.	740	Q9P2F8	SI1L2_HUMAN	Q	740	ENSP00000355589:P740Q;ENSP00000262861:P740Q	ENSP00000262861:P740Q	P	-	2	0	SIPA1L2	230673764	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.813000	0.99286	2.843000	0.97960	0.650000	0.86243	CCA		0.433	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	143	5	143	---	---	---	---	T	232607141	G	T	232607141	3	4	146	1	0	0	0	0	1	0	0	0	14330	1348	47	1	3013	1	SIPA1L2	1	232607141	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	6547424	232607141	16643480	7	6653										
MYT1L	23040	broad.mit.edu	37	chr2	1982977	1982977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gccactgacatgaccactgcCgtcacagccaggggtgggac	13	14	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.chr2:1982977C>A	ENST00000399161.2	-	8	859	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	38					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)		TGACCACTGCCGTCACAGCCA	0.512																																						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.(112-114)Ggc>Tgc		myelin transcription factor 1-like							37	40	39					2																	1982977		2196	4298	6494	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1982977C>A	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.112G>T	2.37:g.1982977C>A	ENSP00000382114:p.Gly38Cys		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.G38C	p.G38C	NM_015025.2	NP_055840.2	WXS	Illumina GAIIx	Phase_I	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	8	859	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	38					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	C	18.57	3.651803	0.67472	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.66995	-0.24;-0.24	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	D	0.85208	0.5644	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88204	0.2886	10	0.87932	D	0	-43.8705	18.6852	0.91560	0.0:1.0:0.0:0.0	.	38;38	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	38	ENSP00000382114:G38C;ENSP00000396103:G38C	ENSP00000295067:G38C	G	-	1	0	MYT1L	1961984	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GGC		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		3	27	3	27	---	---	---	---	A	1982977	C	A	1982977	3	1	146	1	0	0	0	0	1	0	0	0	10107	652	23	1	3514	1	MYT1L	2	1982977	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		1982977	241216396	8	6654										
BRE	9577	broad.mit.edu	37	chr2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aaactggctgcaagctgctcCagccccagaggaactggcca	11	14	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.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_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		Somatic				BRE_ENST00000342045.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron	p.Q392E	NM_004899.4	NP_004890.2	WXS	Illumina GAIIx	Phase_I	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	29	182	---	---	---	---	G	28550226	C	G	28550226	3	3	146	1	0	0	0	0	1	0	0	0	1509	595	21	4	1263	4	BRE	2	28550226	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	26567249	28550226	214649147	9	6655										
LOXL3	84695	broad.mit.edu	37	chr2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	caggtccccctatttgcaccTcgactcgcccctcatgttgg	8	17	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.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_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G	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		Somatic				LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron	p.E431G	NM_032603.2	NP_115992.1	WXS	Illumina GAIIx	Phase_I	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	3	90	---	---	---	---	C	74762839	T	C	74762839	3	2	146	1	0	0	0	0	1	0	0	0	8901	1551	54	2	997	2	LOXL3	2	74762839	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	46212613	74762839	168436534	10	6656										
C3orf24	115795	broad.mit.edu	37	chr3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gcactttttgtaagttgcatAcagcaagaggatagagcgca	11	7	0	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.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		Somatic				FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H	p.Y163H	NM_001164839.1	NP_001158311.1	WXS	Illumina GAIIx	Phase_I					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	33	77	---	---	---	---	G	10145972	A	G	10145972	3	3	146	1	0	0	0	0	1	0	0	0	2217	391	14	2	50	2	C3orf24	3	10145972	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08		10145972	187876458	11	6657										
GRIP2	80852	broad.mit.edu	37	chr3	14561979	14561979	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ggtggtggtgagcgagatccCcagggcagaccctggcgtct	17	11	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	8	37	---	---	---	---	G	14561979	C	G	14561979	1	3	146	0	1	0	0	0	0	0	0	0	6788	623	22	4		4	GRIP2	3	14561979	RNA	SNP	C	TCGA-G9-6499-01A-12D-1961-08	4416007	14561979	183460451	12	6658										
NEK4	6787	broad.mit.edu	37	chr3	52802507	52802507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tctcctccttcccatgactcCttgtaggtgacaatgttggg	9	12	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.chr3:52802507C>A	ENST00000233027.5	-	2	409	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCCATGACTCCTTGTAGGTGA	0.522																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(205-207)aaG>aaT		NIMA-related kinase 4							162	141	148					3																	52802507		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52802507C>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.207G>T	3.37:g.52802507C>A	ENSP00000233027:p.Lys69Asn		Somatic				NEK4_ENST00000383721.4_Missense_Mutation_p.K69N|NEK4_ENST00000535191.1_Intron	p.K69N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	WXS	Illumina GAIIx	Phase_I	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)	2	409	-			69			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.207G>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673452	0.67928	.	.	ENSG00000114904	ENST00000233027;ENST00000383721	T;T	0.25250	1.81;1.81	5.86	0.21	0.15231	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063289	0.56097	D	0.000022	T	0.31263	0.0791	L	0.39326	1.205	0.80722	D	1	D;D	0.59767	0.982;0.986	P;P	0.61477	0.823;0.889	T	0.04454	-1.0950	10	0.62326	D	0.03	.	7.0479	0.25056	0.0:0.4825:0.1206:0.3969	.	69;69	P51957-2;P51957	.;NEK4_HUMAN	N	69	ENSP00000233027:K69N;ENSP00000373227:K69N	ENSP00000233027:K69N	K	-	3	2	NEK4	52777547	0.996000	0.38824	1.000000	0.80357	0.871000	0.50021	0.440000	0.21592	0.263000	0.21812	0.655000	0.94253	AAG		0.522	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		7	206	7	206	---	---	---	---	A	52802507	C	A	52802507	3	1	146	1	0	0	0	0	1	0	0	0	10326	680	24	1	2378	1	NEK4	3	52802507	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	38240528	52802507	145219923	13	6659										
TRIO	7204	broad.mit.edu	37	chr5	14474130	14474130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tggcacttatgaaagaagatGgtgttcctgatgacatgaaa	11	5	0	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.chr5:14474130G>T	ENST00000344204.4	+	40	6031	c.6007G>T	c.(6007-6009)Ggt>Tgt	p.G2003C	TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2003	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					GAAAGAAGATGGTGTTCCTGA	0.378																																						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.(6007-6009)Ggt>Tgt		trio Rho guanine nucleotide exchange factor							169	140	149					5																	14474130		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.chr5:14474130G>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.6007G>T	5.37:g.14474130G>T	ENSP00000339299:p.Gly2003Cys		Somatic				TRIO_ENST00000537187.1_Missense_Mutation_p.G2003C	p.G2003C	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			40	6031	+	Lung NSC(4;0.000742)		2003			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6007G>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258376	0.80246	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.70282	-0.47;-0.47	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.952	D	0.86353	0.1712	10	0.59425	D	0.04	.	19.253	0.93933	0.0:0.0:1.0:0.0	.	2003;2003	O75962-5;O75962	.;TRIO_HUMAN	C	2003;2003;1690;83	ENSP00000339299:G2003C;ENSP00000446348:G2003C	ENSP00000339299:G2003C	G	+	1	0	TRIO	14527130	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.830000	0.86741	2.551000	0.86045	0.563000	0.77884	GGT		0.378	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	84	4	84	---	---	---	---	T	14474130	G	T	14474130	3	4	146	1	0	0	0	0	1	0	0	0	16549	1348	47	1	6165	1	TRIO	5	14474130	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		14474130	166441130	14	6660										
TRIO	7204	broad.mit.edu	37	chr5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ttcagctcaacacgacctacTacatccaccagttactgggg	7	14	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.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		Somatic				TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H	p.Y2948H	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	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	9	65	---	---	---	---	C	14508079	T	C	14508079	3	2	146	1	0	0	0	0	1	0	0	0	16549	1522	53	2	9068	2	TRIO	5	14508079	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	33949	14508079	166407181	15	6661										
ZFYVE16	9765	broad.mit.edu	37	chr5	79732904	79732904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gtgatctgataagtgacatgGgtaacttagttcatgcaacc	10	7	2	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.chr5:79732904G>T	ENST00000338008.5	+	3	580	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	134					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)		AAGTGACATGGGTAACTTAGT	0.353																																					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.(400-402)Ggt>Tgt		zinc finger, FYVE domain containing 16							135	146	142					5																	79732904		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.chr5:79732904G>T	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.400G>T	5.37:g.79732904G>T	ENSP00000337159:p.Gly134Cys		Somatic				ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G134C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G134C	p.G134C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	WXS	Illumina GAIIx	Phase_I	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	580	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	134					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.400G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043693	0.55003	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.53206	0.63;0.63;0.63	5.01	4.14	0.48551	.	0.106892	0.41938	D	0.000794	T	0.63462	0.2513	M	0.64997	1.995	0.38341	D	0.944062	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.69143	-0.5223	10	0.87932	D	0	-3.4977	10.9408	0.47273	0.158:0.0:0.842:0.0	.	134;134	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	C	134	ENSP00000337159:G134C;ENSP00000423663:G134C;ENSP00000426848:G134C	ENSP00000337159:G134C	G	+	1	0	ZFYVE16	79768660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.742000	0.55097	1.236000	0.43740	0.467000	0.42956	GGT		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		6	144	6	144	---	---	---	---	T	79732904	G	T	79732904	3	4	146	1	0	0	0	0	1	0	0	0	17661	1232	43	1	406	1	ZFYVE16	5	79732904	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	65224825	79732904	101182356	16	6662										
P4HA2	8974	broad.mit.edu	37	chr5	131544991	131544991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ccaataactgctcaaagtacCgcagattccctccagctcgt	6	15	1	1	rs200144298		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.chr5:131544991C>A	ENST00000401867.1	-	8	1311	c.743G>T	c.(742-744)cGg>cTg	p.R248L	P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	248					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)	CTCAAAGTACCGCAGATTCCC	0.443																																					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.(742-744)cGg>cTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						185	183	184					5																	131544991		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.chr5:131544991C>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.743G>T	5.37:g.131544991C>A	ENSP00000384999:p.Arg248Leu		Somatic				P4HA2_ENST00000360568.3_Missense_Mutation_p.R248L|P4HA2_ENST00000379086.1_Missense_Mutation_p.R248L|P4HA2_ENST00000379104.2_Missense_Mutation_p.R248L|P4HA2_ENST00000166534.4_Missense_Mutation_p.R248L|P4HA2_ENST00000379100.2_Missense_Mutation_p.R248L	p.R248L			WXS	Illumina GAIIx	Phase_I	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1311	-		all_cancers(142;0.103)|Breast(839;0.198)	248					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.743G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419085	0.62622	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.5	4.64	0.57946	Tetratricopeptide-like helical (1);	0.174192	0.51477	D	0.000085	T	0.34890	0.0913	L	0.41710	1.295	0.80722	D	1	B;B	0.19706	0.022;0.038	B;B	0.26310	0.049;0.068	T	0.21314	-1.0249	10	0.62326	D	0.03	-8.7793	9.1249	0.36810	0.0:0.7808:0.0:0.2192	.	248;248	O15460;O15460-2	P4HA2_HUMAN;.	L	248	ENSP00000384999:R248L;ENSP00000368379:R248L;ENSP00000166534:R248L;ENSP00000353772:R248L;ENSP00000368398:R248L;ENSP00000368394:R248L	ENSP00000166534:R248L	R	-	2	0	P4HA2	131572890	0.814000	0.29104	1.000000	0.80357	0.998000	0.95712	1.540000	0.36115	1.466000	0.48025	0.655000	0.94253	CGG		0.443	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		5	276	5	276	---	---	---	---	A	131544991	C	A	131544991	3	1	146	1	0	0	0	0	1	0	0	0	11357	652	23	1	964	1	P4HA2	5	131544991	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	51812087	131544991	49370269	17	6663										
PCDHA12	56137	broad.mit.edu	37	chr5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ggtcatctgctcactgacacCtcatgttcccttcaagctgg	8	14	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.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_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	56137							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		Somatic				PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.P391L	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	21	135	---	---	---	---	T	140256229	C	T	140256229	3	4	146	1	0	0	0	0	1	0	0	0	11522	681	24	2	1174	2	PCDHA12	5	140256229	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	8711238	140256229	40659031	18	6664										
SGCD	6444	broad.mit.edu	37	chr5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aatgggaaacctgaggatcaCagaaaaaggtctaaagctag	11	6	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.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_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		Somatic				SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R	p.T72R	NM_001128209.1	NP_001121681.1	WXS	Illumina GAIIx	Phase_I	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	13	45	---	---	---	---	G	155935636	C	G	155935636	3	3	146	1	0	0	0	0	1	0	0	0	14201	478	17	4	228	4	SGCD	5	155935636	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	15679407	155935636	24979624	19	6665										
SPATS1	221409	broad.mit.edu	37	chr6	44337822	44337822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	agaaatttgatacatttattCcacttgagcctcttccacaa	4	10	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.chr6:44337822C>A	ENST00000288390.2	+	6	1077	c.730C>A	c.(730-732)Cca>Aca	p.P244T	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(730-732)Cca>Aca		spermatogenesis associated, serine-rich 1							168	165	166					6																	44337822		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337822C>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.730C>A	6.37:g.44337822C>A	ENSP00000424400:p.Pro244Thr		Somatic				SPATS1_ENST00000323108.8_Missense_Mutation_p.P244T|RP11-444E17.6_ENST00000505802.1_3'UTR	p.P244T			WXS	Illumina GAIIx	Phase_I	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1077	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		244					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.730C>A	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952851	0.73787	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.72835	-0.69;-0.69	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000037	T	0.78194	0.4245	M	0.63843	1.955	0.41513	D	0.988359	D	0.89917	1.0	D	0.91635	0.999	T	0.77848	-0.2435	10	0.46703	T	0.11	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	244	Q496A3	SPAS1_HUMAN	T	244	ENSP00000437552:P244T;ENSP00000424400:P244T	ENSP00000424400:P244T	P	+	1	0	SPATS1	44445800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.942000	0.56614	2.654000	0.90174	0.655000	0.94253	CCA		0.323	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		8	107	8	107	---	---	---	---	A	44337822	C	A	44337822	3	1	146	1	0	0	0	0	1	0	0	0	15017	855	30	3	752	3	SPATS1	6	44337822	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		44337822	126777245	20	6666										
PHF3	23469	broad.mit.edu	37	chr6	64412495	64412495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	agaaattgagagtgatgcccCaatgaaagaacaggaagcag	12	6	0	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.chr6:64412495C>A	ENST00000262043.3	+	10	3537	c.3197C>A	c.(3196-3198)cCa>cAa	p.P1066Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1066					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)			AGTGATGCCCCAATGAAAGAA	0.383																																					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.(3196-3198)cCa>cAa		PHD finger protein 3							111	107	108					6																	64412495		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64412495C>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.3197C>A	6.37:g.64412495C>A	ENSP00000262043:p.Pro1066Gln		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.P1066Q	p.P1066Q			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		10	3537	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1066					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3197C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418704	0.62622	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.50001	2.02;0.76;2.1;2.1	5.63	5.63	0.86233	.	0.000000	0.39274	N	0.001403	T	0.63745	0.2537	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63567	-0.6608	10	0.54805	T	0.06	-12.5291	19.6727	0.95916	0.0:1.0:0.0:0.0	.	1066	Q92576	PHF3_HUMAN	Q	880;335;1066;1066	ENSP00000424694:P880Q;ENSP00000425338:P335Q;ENSP00000262043:P1066Q;ENSP00000377048:P1066Q	ENSP00000262043:P1066Q	P	+	2	0	PHF3	64470454	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.898000	0.69838	2.656000	0.90262	0.591000	0.81541	CCA		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	102	5	102	---	---	---	---	A	64412495	C	A	64412495	3	1	146	1	0	0	0	0	1	0	0	0	11836	594	21	1	3231	1	PHF3	6	64412495	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	20074673	64412495	106702572	21	6667										
GABRR1	2569	broad.mit.edu	37	chr6	89888605	89888605	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	catgctcacatagctgcttcTctgacttttcctctgtgggg	9	12	3	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.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			Somatic				GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	p.R425R	NM_001256703.1	NP_001243632.1	WXS	Illumina GAIIx	Phase_I	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	14	100	---	---	---	---	G	89888605	T	G	89888605	2	3	146	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	25476110	89888605	81226462	22	6668										
CDK13	8621	broad.mit.edu	37	chr7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tgactcagttaataaaggctCagcagtcaaagcagaaagat	9	7	3	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.chr7:40132728C>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		Somatic				CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	p.Q1194E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	WXS	Illumina GAIIx	Phase_I	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	32	165	---	---	---	---	G	40132728	C	G	40132728	3	3	146	1	0	0	0	0	1	0	0	0	3129	827	29	4	3630	4	CDK13	7	40132728	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		40132728	119005935	23	6669										
TYW1	55253	broad.mit.edu	37	chr7	66489943	66489943	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tttggtggtgaggaccatcaGagcctaaattccattgttga	11	7	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.chr7:66489943G>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			Somatic					p.Q306Q	NM_018264.2	NP_060734.2	WXS	Illumina GAIIx	Phase_I	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	6	120	---	---	---	---	A	66489943	G	A	66489943	2	1	146	1	0	0	0	0	0	0	0	1	16815	933	33	2		2	TYW1	7	66489943	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	26357215	66489943	92648720	24	6670										
ZC3H3	23144	broad.mit.edu	37	chr8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	cactgagccagacggaactgGctgatctgtgtggccagcat	13	11	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.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		Somatic					p.P273T	NM_015117.2	NP_055932.2	WXS	Illumina GAIIx	Phase_I	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	18	144	---	---	---	---	T	144620720	G	T	144620720	3	4	146	1	0	0	0	0	1	0	0	0	17566	1203	42	3	2073	3	ZC3H3	8	144620720	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		144620720	1743302	25	6671										
MGC70857	414919	broad.mit.edu	37	chr8	145753101	145753101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ccgcagggcgagaggaagggGaaagcggcctcgtagcgccc	18	12	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.chr8:145753101G>T	ENST00000524821.1	-	3	491	c.276C>A	c.(274-276)ttC>ttA	p.F92L	LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank|C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	92										endometrium(1)|urinary_tract(1)	2						AGAGGAAGGGGAAAGCGGCCT	0.687																																						ENST00000524821.1																			0				endometrium(1)|urinary_tract(1)	2						c.(274-276)ttC>ttA		chromosome 8 open reading frame 82							36	45	42					8																	145753101		2176	4289	6465	SO:0001583	missense	414919							g.chr8:145753101G>T		CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.276C>A	8.37:g.145753101G>T	ENSP00000436621:p.Phe92Leu		Somatic				C8orf82_ENST00000313465.5_3'UTR	p.F92L			WXS	Illumina GAIIx	Phase_I	Q6P1X6	CH082_HUMAN			3	491	-			92					Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	ENST00000524821.1	37	c.276C>A	CCDS34970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.413822|4.413822	0.83449|0.83449	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000524821|ENST00000532827	.|.	.|.	.|.	3.97|3.97	2.99|2.99	0.34606|0.34606	.|.	0.000000|.	0.56097|.	U|.	0.000023|.	T|T	0.68540|0.68540	0.3012|0.3012	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.996|.	D;D|.	0.83275|.	0.996;0.99|.	T|T	0.70396|0.70396	-0.4883|-0.4883	9|5	0.87932|.	D|.	0|.	-16.4116|-16.4116	5.7771|5.7771	0.18285|0.18285	0.153:0.0:0.847:0.0|0.153:0.0:0.847:0.0	.|.	84;92|.	Q6P1X6-2;Q6P1X6|.	.;CH082_HUMAN|.	L|T	92|137	.|.	ENSP00000436621:F92L|.	F|P	-|-	3|1	2|0	C8orf82|C8orf82	145723909|145723909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	4.569000|4.569000	0.60865|0.60865	2.049000|2.049000	0.60858|0.60858	0.563000|0.563000	0.77884|0.77884	TTC|CCC		0.687	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		4	21	4	21	---	---	---	---	T	145753101	G	T	145753101	3	4	146	1	0	0	0	0	1	0	0	0	9553	1165	41	3	378	3	MGC70857	8	145753101	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	1132381	145753101	610921	26	6672										
ADAMTSL2	9719	broad.mit.edu	37	chr9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	cgtggacggccagcggcagcTcatggtccccgcccgcgacg	15	17	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.chr9:136405789T>A	ENST00000354484.4	+	6	1039	c.482T>A	c.(481-483)cTc>cAc	p.L161H	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.L270H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H	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		Somatic				ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H	p.L270H			WXS	Illumina GAIIx	Phase_I	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	18	54	---	---	---	---	A	136405789	T	A	136405789	3	1	146	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	27	6673										
HNRNPF	3185	broad.mit.edu	37	chr10	43883242	43883242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	atgaatcgtgcagtcagagaGgaagttctgcacgtcctcaa	11	9	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.chr10:43883242G>T	ENST00000544000.1	-	4	498	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000443950.2_Missense_Mutation_p.L31I|HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	31	RRM 1. {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)|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						CAGTCAGAGAGGAAGTTCTGC	0.552																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(91-93)Ctc>Atc		heterogeneous nuclear ribonucleoprotein F							69	67	68					10																	43883242		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883242G>T		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.91C>A	10.37:g.43883242G>T	ENSP00000438061:p.Leu31Ile		Somatic				HNRNPF_ENST00000356053.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000544000.1_Missense_Mutation_p.L31I|HNRNPF_ENST00000337970.3_Missense_Mutation_p.L31I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Missense_Mutation_p.L31I	p.L31I	NM_001098208.1	NP_001091678.1	WXS	Illumina GAIIx	Phase_I	P52597	HNRPF_HUMAN			3	577	-			31			RRM 1.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.91C>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779602	0.31502	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.17	4.17	0.49024	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.050562	0.85682	D	0.000000	T	0.44808	0.1311	M	0.77103	2.36	0.29448	N	0.858653	B	0.24317	0.101	B	0.43331	0.416	T	0.50857	-0.8778	10	0.87932	D	0	-13.1845	8.1057	0.30885	0.1065:0.0:0.8935:0.0	.	31	P52597	HNRPF_HUMAN	I	31	ENSP00000438061:L31I;ENSP00000400433:L31I;ENSP00000348345:L31I;ENSP00000349573:L31I;ENSP00000338477:L31I	ENSP00000338477:L31I	L	-	1	0	HNRNPF	43203248	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.503000	0.45407	2.615000	0.88500	0.650000	0.86243	CTC		0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			5	57	5	57	---	---	---	---	T	43883242	G	T	43883242	3	4	146	1	0	0	0	0	1	0	0	0	7265	1000	35	1	1160	1	HNRNPF	10	43883242	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		43883242	91651505	28	6674										
SPTY2D1	144108	broad.mit.edu	37	chr11	18655745	18655745	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	atgccccagctgctacttacCggcacattgttgacaccttg	8	14	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.chr11:18655745C>A	ENST00000336349.5	-	1	295	c.60G>T	c.(58-60)ccG>ccT	p.P20P	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	20										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTACTTACCGGCACATTGT	0.562																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(58-60)ccG>ccT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							200	181	187					11																	18655745		2199	4293	6492	SO:0001630	splice_region_variant	144108							g.chr11:18655745C>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.60+1G>T	11.37:g.18655745C>A			Somatic				SPTY2D1_ENST00000543776.1_Intron	p.P20P	NM_194285.2	NP_919261.2	WXS	Illumina GAIIx	Phase_I	Q68D10	SPT2_HUMAN			1	295	-			20					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Splice_Site	SNP	ENST00000336349.5	37	c.60G>T	CCDS31441.1																																																																																				0.562	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	Silent	6	214	6	214	---	---	---	---	A	18655745	C	A	18655745	5	1	146	1	0	0	0	0	0	0	1	0	15125	666	23	1	2021	1	SPTY2D1	11	18655745	Splice_Site	SNP	C	TCGA-G9-6499-01A-12D-1961-08		18655745	116350771	29	6675										
OR6T1	219874	broad.mit.edu	37	chr11	123813655	123813655	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gcttctctcagtgcttgctgCaccttgtcattgcggagagt	11	11	3	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.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			Somatic					p.V297V	NM_001005187.1	NP_001005187.1	WXS	Illumina GAIIx	Phase_I	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	26	295	---	---	---	---	A	123813655	C	A	123813655	2	1	146	1	0	0	0	0	0	0	0	1	11210	697	25	3		3	OR6T1	11	123813655	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	105157910	123813655	11192861	30	6676										
CD63	967	broad.mit.edu	37	chr12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-													0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	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_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs	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)aatfs		CD63 molecule							100	99	99					12																	56119956		2203	4300	6503	SO:0001589	frameshift_variant	967				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		Somatic				CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs	p.N172fs	NM_001257389.1	NP_001244318.1	WXS	Illumina GAIIx	Phase_I	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	146	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		56119956	77731939	31	6677										
ATP6V0A2	23545	broad.mit.edu	37	chr12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aagtggaagcatttgaaaaaAtgttgtggagagtctgcaaa	12	3	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.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		Somatic					p.M191L	NM_012463.3	NP_036595.2	WXS	Illumina GAIIx	Phase_I	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	23	61	---	---	---	---	C	124212379	A	C	124212379	3	2	146	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	32	6678										
MMP17	4326	broad.mit.edu	37	chr12	132335621	132335621	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gtggctgcgggcgtggacgcGgcagaggggccccgcgcccc	20	15	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.chr12:132335621G>T	ENST00000360564.1	+	10	1716	c.1614G>T	c.(1612-1614)gcG>gcT	p.A538A	MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	538					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)	GCGTGGACGCGGCAGAGGGGC	0.692																																						ENST00000360564.1																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(1612-1614)gcG>gcT		matrix metallopeptidase 17 (membrane-inserted)							24	24	24					12																	132335621		2192	4295	6487	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.chr12:132335621G>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.1614G>T	12.37:g.132335621G>T			Somatic				MMP17_ENST00000535004.1_Silent_p.A78A|MMP17_ENST00000535291.1_Silent_p.A454A	p.A538A	NM_016155.4	NP_057239.4	WXS	Illumina GAIIx	Phase_I	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1716	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		538					Q14850	Silent	SNP	ENST00000360564.1	37	c.1614G>T	CCDS31927.1																																																																																				0.692	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		3	21	3	21	---	---	---	---	T	132335621	G	T	132335621	2	4	146	1	0	0	0	0	0	0	0	1	9656	1103	39	1		1	MMP17	12	132335621	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	8123242	132335621	1516274	33	6679										
FRY	10129	broad.mit.edu	37	chr13	32676131	32676131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gacaaaatctctgcaacgtgGagaagacccccaatttgatc	8	11	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.chr13:32676131G>T	ENST00000380250.3	+	3	798	c.302G>T	c.(301-303)gGa>gTa	p.G101V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	101						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)		CTGCAACGTGGAGAAGACCCC	0.333																																						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.(301-303)gGa>gTa		furry homolog (Drosophila)							109	110	110					13																	32676131		1848	4092	5940	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32676131G>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.302G>T	13.37:g.32676131G>T	ENSP00000369600:p.Gly101Val		Somatic					p.G101V	NM_023037.2	NP_075463.2	WXS	Illumina GAIIx	Phase_I	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)	3	798	+		Lung SC(185;0.0271)	101					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.302G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785067	0.70222	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.51574	0.7	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76992	-0.2753	10	0.87932	D	0	.	15.6974	0.77512	0.0:0.0:1.0:0.0	.	101	Q5TBA9	FRY_HUMAN	V	101;98;67	ENSP00000369600:G101V	ENSP00000267067:G67V	G	+	2	0	FRY	31574131	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.595000	0.74109	2.547000	0.85894	0.655000	0.94253	GGA		0.333	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	78	5	78	---	---	---	---	T	32676131	G	T	32676131	3	4	146	1	0	0	0	0	1	0	0	0	6063	1174	41	3	312	3	FRY	13	32676131	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		32676131	82493747	34	6680										
VPS13C	54832	broad.mit.edu	37	chr15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aatggtacaaaagggagtcaGggtaactattcgtgaaaggt	13	4	1	1	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	RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	53	---	---	---	---	C	62204152	G	C	62204152	3	2	146	1	0	0	0	0	1	0	0	0	17188	991	35	4	2779	4	VPS13C	15	62204152	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		62204152	40327240	35	6681										
SMAD6	4091	broad.mit.edu	37	chr15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	cgcccggcggccgcgccctgGtcgtgcgcaaggtgcccccc	15	20	0	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		Somatic				SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	p.V426F	NM_005585.4	NP_005576.3	WXS	Illumina GAIIx	Phase_I	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	9	42	---	---	---	---	T	67073658	G	T	67073658	3	4	146	1	0	0	0	0	1	0	0	0	14762	1261	44	3	1328	3	SMAD6	15	67073658	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	4869506	67073658	35457734	36	6682										
PCSK6	5046	broad.mit.edu	37	chr15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ttttaaaggttttgctgtgaTaaaaatggtagtaatcttcc	8	4	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.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_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		Somatic				PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C	p.Y109C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	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	26	169	---	---	---	---	C	101983834	T	C	101983834	3	2	146	1	0	0	0	0	1	0	0	0	11604	1406	49	2	3143	2	PCSK6	15	101983834	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	34910176	101983834	547558	37	6683										
ZFHX3	463	broad.mit.edu	37	chr16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-													0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	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)accctgctgfs		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		Somatic				ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.LL873fs	p.LL1787fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	6030_6034	-		Ovarian(137;0.13)	1787					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	146	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	38	6684										
IRF8	3394	broad.mit.edu	37	chr16	85936654	85936654	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aatggtggtcggcggcttcgAcagtggctgatcgagcagat	16	8	0	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.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			Somatic				IRF8_ENST00000563180.1_Silent_p.R11R	p.R11R	NM_002163.2	NP_002154.1	WXS	Illumina GAIIx	Phase_I	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	27	167	---	---	---	---	C	85936654	A	C	85936654	2	2	146	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	39	6685										
TP53	7157	broad.mit.edu	37	chr17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gcagcgctcatggtgggggcAgcgcctcacaacctccgtca	13	15	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.chr17:7578404A>G	ENST00000269305.4	-	5	715	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000455263.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000420246.2_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)	Somatic				TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	22	56	---	---	---	---	G	7578404	A	G	7578404	3	3	146	1	0	0	0	0	1	0	0	0	16378	188	7	2	772	2	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08		7578404	73616806	40	6686										
TNS4	84951	broad.mit.edu	37	chr17	38638448	38638448	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gaatgctggcacacgaaggcAgagaggctccctgaaaggaa	14	9	0	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.chr17:38638448A>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			Somatic					p.S535S	NM_032865.5	NP_116254.4	WXS	Illumina GAIIx	Phase_I	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	4	47	---	---	---	---	T	38638448	A	T	38638448	2	4	146	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	41	6687										
ITGB4	3691	broad.mit.edu	37	chr17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ggcccaacagtgacccccccTtctccttcaagaacgtcatc	6	18	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_ENST00000339591.3_Missense_Mutation_p.F201V|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	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		Somatic				ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	p.F201V	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	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	11	71	---	---	---	---	G	73725380	T	G	73725380	3	3	146	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	35086932	73725380	7469830	42	6688										
PYCR1	5831	broad.mit.edu	37	chr17	79892256	79892256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tgagcagggagcggaagcccCcactctccagcacatgcaag	12	14	1	1	rs281875319		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.chr17:79892256C>A	ENST00000329875.8	-	6	807	c.743G>T	c.(742-744)gGg>gTg	p.G248V	PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000337943.5_Missense_Mutation_p.G248V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	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	248			G -> E (in ARCL3B; results in a reduction of protein expression in skin fibroblasts from the patient; dbSNP:rs281875319). {ECO:0000269|PubMed:22052856}.		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)	GCGGAAGCCCCCACTCTCCAG	0.642																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(742-744)gGg>gTg		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						53	46	49					17																	79892256		2202	4298	6500	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892256C>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.743G>T	17.37:g.79892256C>A	ENSP00000328858:p.Gly248Val		Somatic				PYCR1_ENST00000329875.8_Missense_Mutation_p.G248V|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.G275V|PYCR1_ENST00000403172.4_Missense_Mutation_p.G217V	p.G248V	NM_153824.1	NP_722546.1	WXS	Illumina GAIIx	Phase_I	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	1185	-	all_neural(118;0.0878)|Ovarian(332;0.12)		248					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.743G>T	CCDS11795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312435|4.312435	0.81358|0.81358	.|.	.|.	ENSG00000183010|ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000402252;ENST00000405481|ENST00000403172	D;D;D|.	0.85258|.	-1.96;-1.96;-1.96|.	3.47|3.47	3.47|3.47	0.39725|0.39725	6-phosphogluconate dehydrogenase, C-terminal-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79747|0.79747	0.4499|0.4499	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.996;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.68943|.	0.921;0.939;0.939;0.939;0.961|.	D|D	0.84749|0.84749	0.0755|0.0755	10|6	0.62326|0.62326	D|D	0.03|0.03	.|.	15.159|15.159	0.72767|0.72767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	189;275;248;248;248|.	B7Z8T1;B4DMU0;E7D7X9;P32322;A6NFM2|.	.;.;.;P5CR1_HUMAN;.|.	V|C	248;248;275;189|248	ENSP00000336579:G248V;ENSP00000328858:G248V;ENSP00000384949:G275V|.	ENSP00000328858:G248V|ENSP00000385483:W248C	G|W	-|-	2|3	0|0	PYCR1|PYCR1	77485547|77485547	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.925000|0.925000	0.55904|0.55904	7.427000|7.427000	0.80284|0.80284	1.780000|1.780000	0.52325|0.52325	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.642	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			4	38	4	38	---	---	---	---	A	79892256	C	A	79892256	3	1	146	1	0	0	0	0	1	0	0	0	12855	623	22	1	312	1	PYCR1	17	79892256	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	6166876	79892256	1302954	43	6689										
CEP76	79959	broad.mit.edu	37	chr18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aggagcacacacagatttaaTtgcttcctcactcatgggtt	8	10	2	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.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.I421V	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		Somatic				CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	p.I496V	NM_024899.2	NP_079175.2	WXS	Illumina GAIIx	Phase_I	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	40	122	---	---	---	---	C	12678245	T	C	12678245	3	2	146	1	0	0	0	0	1	0	0	0	3261	1493	52	2	505	2	CEP76	18	12678245	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		12678245	65399003	44	6690										
ZNF236	7776	broad.mit.edu	37	chr18	74587566	74587566	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gcctgtgccttctgtcctgcCgccttctctcagaaagggaa	10	14	3	1	rs190039167		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.chr18:74587566C>A	ENST00000253159.8	+	6	978	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZNF236_ENST00000320610.9_Silent_p.A262A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	260					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)		TCTGTCCTGCCGCCTTCTCTC	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(778-780)gcC>gcA		zinc finger protein 236							122	124	123					18																	74587566		2026	4179	6205	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587566C>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.780C>A	18.37:g.74587566C>A			Somatic	OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_ENST00000320610.9_Silent_p.A262A	p.A260A	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	978	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	260					B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.780C>A	CCDS42447.1																																																																																				0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			4	137	4	137	---	---	---	---	A	74587566	C	A	74587566	2	1	146	1	0	0	0	0	0	0	0	1	17786	639	23	1		1	ZNF236	18	74587566	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	61909321	74587566	3489682	45	6691										
NWD1	284434	broad.mit.edu	37	chr19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	aaacacctacctgtgccgtcTcagtccagaagcaaggaaag	9	12	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.chr19:16902377T>G	ENST00000552788.1	+	12	3157	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000524140.2_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_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		Somatic				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_ENST00000552788.1_Missense_Mutation_p.S1053A	p.S1053A	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	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	13	141	---	---	---	---	G	16902377	T	G	16902377	3	3	146	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	46	6692										
LILRA1	11024	broad.mit.edu	37	chr19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tagccacactgcaggctggtCagagcccagtgaccccctgg	12	15	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.chr19:55106382C>T	ENST00000251372.3	+	4	505	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.S108L|LILRA1_ENST00000473156.1_3'UTR	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		Somatic				LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron	p.S108L	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	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	28	72	---	---	---	---	T	55106382	C	T	55106382	3	4	146	1	0	0	0	0	1	0	0	0	8784	838	29	2	333	2	LILRA1	19	55106382	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	38204005	55106382	4022601	47	6693										
ZNF551	90233	broad.mit.edu	37	chr19	58198616	58198616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	ataaatctgaattcattcacCaccagagacgtcacactgga	6	11	4	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.chr19:58198616C>A	ENST00000282296.5	+	3	1158	c.973C>A	c.(973-975)Cac>Aac	p.H325N	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	325					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)		ATTCATTCACCACCAGAGACG	0.428																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(973-975)Cac>Aac		zinc finger protein 551							88	85	86					19																	58198616		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198616C>A	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.973C>A	19.37:g.58198616C>A	ENSP00000282296:p.His325Asn		Somatic				AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.H309N	p.H325N			WXS	Illumina GAIIx	Phase_I	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1158	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	325					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.973C>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551180	0.45383	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.57	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77287	0.4108	H	0.95884	3.735	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.65187	-0.6229	8	0.87932	D	0	.	8.4206	0.32698	0.0:0.8729:0.0:0.1271	.	325	Q7Z340	ZN551_HUMAN	N	325;309	.	ENSP00000282296:H309N	H	+	1	0	ZNF551	62890428	0.968000	0.33430	0.000000	0.03702	0.005000	0.04900	4.768000	0.62293	0.424000	0.26061	0.561000	0.74099	CAC		0.428	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		4	91	4	91	---	---	---	---	A	58198616	C	A	58198616	3	1	146	1	0	0	0	0	1	0	0	0	17980	594	21	1	935	1	ZNF551	19	58198616	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	3092234	58198616	930367	48	6694										
TUBGCP6	85378	broad.mit.edu	37	chr22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	gggctcagcttctggtgagaGagcccccagcaccatgtggg	15	12	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.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		Somatic				TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	p.L1282V	NM_020461.3	NP_065194.2	WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	C	50658944	G	C	50658944	3	2	146	1	0	0	0	0	1	0	0	0	16767	942	33	4	1655	4	TUBGCP6	22	50658944	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		50658944	645622	49	6695										
TSPAN7	7102	broad.mit.edu	37	chrX	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-													0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	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_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs	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)tccfs		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		Somatic				TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs	p.S55fs	NM_004615.3	NP_004606.2	WXS	Illumina GAIIx	Phase_I	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	146	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	50	6696										
ZNF449	203523	broad.mit.edu	37	chrX	134494270	134494270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0980392156862745	5	0.853525798085268	2.61689291101056	2.26797385620915	2.91596638655462	1	1	0	tagaaaatcaatgggaaaccCccccagaggatttacagaca	8	10	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.chrX:134494270C>A	ENST00000339249.4	+	5	966	c.826C>A	c.(826-828)Ccc>Acc	p.P276T		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	276					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(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGGAAACCCCCCCAGAGGA	0.438																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.(826-828)Ccc>Acc		zinc finger protein 449							55	58	57					X																	134494270		2183	4286	6469	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494270C>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"-", "Zinc fingers, C2H2-type"	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.826C>A	X.37:g.134494270C>A	ENSP00000339585:p.Pro276Thr		Somatic					p.P276T	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	966	+	Acute lymphoblastic leukemia(192;6.56e-05)		276					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.826C>A	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.139048	0.01742	.	.	ENSG00000173275	ENST00000339249	T	0.06068	3.35	4.85	3.08	0.35506	.	0.337949	0.21786	N	0.069128	T	0.04815	0.0130	N	0.24115	0.695	0.21386	N	0.999704	B	0.15141	0.012	B	0.16289	0.015	T	0.35375	-0.9791	10	0.48119	T	0.1	.	8.4247	0.32723	0.0:0.803:0.0:0.197	.	276	Q6P9G9	ZN449_HUMAN	T	276	ENSP00000339585:P276T	ENSP00000339585:P276T	P	+	1	0	ZNF449	134321936	0.000000	0.05858	0.031000	0.17742	0.095000	0.18619	0.414000	0.21164	0.588000	0.29660	-0.306000	0.09157	CCC		0.438	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		4	76	4	76	---	---	---	---	A	134494270	C	A	134494270	3	1	146	1	0	0	0	0	1	0	0	0	17917	623	22	1	840	1	ZNF449	23	134494270	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	95968814	134494270	20776290	51	6697										
ATAD3C	219293	broad.mit.edu	37	chr1	1389856	1389856	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	acgtcccgcatcacggtgctTgaggcgctgcggcaccccat	12	16	1	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			Somatic					p.L118L	NM_001039211.2	NP_001034300.2	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	G	1389856	T	G	1389856	2	3	147	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	6698										
PDE4DIP	9659	broad.mit.edu	37	chr1	144874026	144874026	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	aatgactcgaatgatggatgGaatctataaaatccatgaat	8	5	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.chr1:144874026G>C	ENST00000369354.3	-	31	5120	c.4931C>G	c.(4930-4932)tCc>tGc	p.S1644C	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1780C|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000524974.1_5'UTR|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		Somatic				PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000530740.1_Intron	p.S1780C			WXS	Illumina GAIIx	Phase_I	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	6	321	---	---	---	---	C	144874026	G	C	144874026	3	2	147	1	0	0	0	0	1	0	0	0	11643	1174	41	4	2165	4	PDE4DIP	1	144874026	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	143484170	144874026	104376595	2	6699										
SLC38A11	151258	broad.mit.edu	37	chr2	165765267	165765267	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	gaaagattcccaccaaaaaaCacattggcaattacctgccg	6	12	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.chr2:165765267C>A	ENST00000409149.3	-	10	1101	c.810G>T	c.(808-810)gtG>gtT	p.V270V	SLC38A11_ENST00000303735.4_Silent_p.V248V|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V	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			Somatic				SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000409149.3_Silent_p.V270V	p.V248V	NM_173512.2	NP_775783.1	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	A	165765267	C	A	165765267	2	1	147	1	0	0	0	0	0	0	0	1	14603	465	17	3		3	SLC38A11	2	165765267	Silent	SNP	C	TCGA-G9-7510-01A-11D-2260-08		165765267	77434106	3	6700										
TTN	7273	broad.mit.edu	37	chr2	179456528	179456528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	aaatatccagtgattggagaAccaccatcacgatccggctt	8	11	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.chr2:179456528A>G	ENST00000591111.1	-	253	55319	c.55095T>C	c.(55093-55095)ggT>ggC	p.G18365G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN_ENST00000460472.2_Silent_p.G10941G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G20006G|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_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			Somatic				TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN_ENST00000460472.2_Silent_p.G10941G|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.G20006G	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	8	35	---	---	---	---	G	179456528	A	G	179456528	2	3	147	1	0	0	0	0	0	0	0	1	16732	30	2	2		2	TTN	2	179456528	Silent	SNP	A	TCGA-G9-7510-01A-11D-2260-08	13691261	179456528	63742845	4	6701										
ACAA1	30	broad.mit.edu	37	chr3	38168013	38168013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	agtctcaccagctgtggtagAaccatctttcttgaaggcag	10	10	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.chr3:38168013A>G	ENST00000333167.8	-	8	977	c.805T>C	c.(805-807)Tct>Cct	p.S269P	ACAA1_ENST00000480865.1_5'UTR|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P	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		Somatic				ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000444607.2_3'UTR	p.S269P	NM_001607.3	NP_001598.1	WXS	Illumina GAIIx	Phase_I	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	7	62	---	---	---	---	G	38168013	A	G	38168013	3	3	147	1	0	0	0	0	1	0	0	0	104	246	9	2	489	2	ACAA1	3	38168013	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		38168013	159854417	5	6702										
NDST4	64579	broad.mit.edu	37	chr4	115858527	115858527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ccgggcaggtttcagatgtgGatattcttcagtgctggtga	14	7	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.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		Somatic					p.P452A	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	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	6	73	---	---	---	---	C	115858527	G	C	115858527	3	2	147	1	0	0	0	0	1	0	0	0	10258	1174	41	4	1304	4	NDST4	4	115858527	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		115858527	75295749	6	6703										
ZNF131	7690	broad.mit.edu	37	chr5	43174661	43174661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	tttgtggtttatgcaaggaaAtgaattaaggaggcatctca	11	4	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.chr5:43174661A>G	ENST00000399534.1	+	7	1342	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000509634.1_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		Somatic				ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S	p.N399S			WXS	Illumina GAIIx	Phase_I	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	11	72	---	---	---	---	G	43174661	A	G	43174661	3	3	147	1	0	0	0	0	1	0	0	0	17718	101	4	2	1222	2	ZNF131	5	43174661	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		43174661	137740599	7	6704										
BDP1	55814	broad.mit.edu	37	chr5	70860624	70860624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	gaaagaaggatataaaagtgCccaaaagcgggcccctcaag	11	9	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.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		Somatic				BDP1_ENST00000380675.2_3'UTR	p.A2596V	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	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	6	50	---	---	---	---	T	70860624	C	T	70860624	3	4	147	1	0	0	0	0	1	0	0	0	1395	739	26	2	7941	2	BDP1	5	70860624	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	27685963	70860624	110054636	8	6705										
TBC1D22B	55633	broad.mit.edu	37	chr6	37280704	37280704	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	tgttttacagaagaggatgtGgagaactttgacgtgaccaa	12	5	0	5			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			Somatic					p.V331V	NM_017772.2	NP_060242.2	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	C	37280704	G	C	37280704	2	2	147	1	0	0	0	0	0	0	0	1	15609	1335	47	4		4	TBC1D22B	6	37280704	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		37280704	133834363	9	6706										
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316028	19316028	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	gttggccatgttgagcttttCatttttcactttcatgatgg	9	7	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.chr8:19316028C>T	ENST00000454498.2	-	5	1773	c.760G>A	c.(760-762)Gaa>Aaa	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|CSGALNACT1_ENST00000332246.6_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		Somatic				CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K	p.E254K	NM_001130518.1	NP_001123990.1	WXS	Illumina GAIIx	Phase_I	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	13	229	---	---	---	---	T	19316028	C	T	19316028	3	4	147	1	0	0	0	0	1	0	0	0	3938	835	29	2	862	2	CSGALNACT1	8	19316028	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		19316028	127047994	10	6707										
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732517	37732517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ggtggaagattcggagagctGcctgtcagaagacagcccac	14	10	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.chr8:37732517G>T	ENST00000330843.4	-	3	1150	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K	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		Somatic				RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K	p.Q380K	NM_001002814.2	NP_001002814.2	WXS	Illumina GAIIx	Phase_I	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	3	44	---	---	---	---	T	37732517	G	T	37732517	3	4	147	1	0	0	0	0	1	0	0	0	12893	1328	46	3	2729	3	RAB11FIP1	8	37732517	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	18416489	37732517	108631505	11	6708										
CYP11B2	1585	broad.mit.edu	37	chr8	143995679	143995679	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ggggctggttgctggcctgaCcgtgtccacgctccctgcag	15	14	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			Somatic						NM_000498.3	NP_000489.3	WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	T	143995679	C	T	143995679	5	4	147	1	0	0	0	0	0	0	1	0	4146	521	18	2	576	2	CYP11B2	8	143995679	Splice_Site	SNP	C	TCGA-G9-7510-01A-11D-2260-08	106263162	143995679	2368343	12	6709										
KIAA1529	100499483	broad.mit.edu	37	chr9	100080777	100080777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	cagtgagagtatccatactcCcccggctgtgacgaaggagc	12	12	0	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_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|CCDC180_ENST00000375202.2_Missense_Mutation_p.P375L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|RP11-23J9.4_ENST00000534123.1_RNA			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		Somatic				CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.P514L	p.P375L			WXS	Illumina GAIIx	Phase_I					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	6	44	---	---	---	---	T	100080777	C	T	100080777	3	4	147	1	0	0	0	0	1	0	0	0	8240	623	22	2	1591	2	KIAA1529	9	100080777	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		100080777	41132654	13	6710										
INVS	27130	broad.mit.edu	37	chr9	103027138	103027138	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	gcattggtcctgcaacaatgGataccttgatgccattaaat	8	9	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.chr9:103027138G>C	ENST00000262457.2	+	11	1684	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A	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		Somatic				INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A	p.G500A	NM_014425.3	NP_055240.2	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	C	103027138	G	C	103027138	3	2	147	1	0	0	0	0	1	0	0	0	7787	1174	41	4	1537	4	INVS	9	103027138	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	2946361	103027138	38186293	14	6711										
KIF5B	3799	broad.mit.edu	37	chr10	32304509	32304509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ccactggctggctgttctgaAcaaatgcacctcctccacga	8	15	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.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		Somatic					p.V947A	NM_004521.2	NP_004512.1	WXS	Illumina GAIIx	Phase_I	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	4	98	---	---	---	---	G	32304509	A	G	32304509	3	3	147	1	0	0	0	0	1	0	0	0	8306	43	2	2	55	2	KIF5B	10	32304509	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		32304509	103230238	15	6712										
ATM	472	broad.mit.edu	37	chr11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ctgtgagaaaaccatggaagTgatgagaaactctcaggaaa	11	6	1	3	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	ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.V2937G|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron			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)	Somatic				ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G	p.V2937G	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	13	80	---	---	---	---	G	108225561	T	G	108225561	3	3	147	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	16	6713										
AKAP6	9472	broad.mit.edu	37	chr14	33292152	33292152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	gtgttacacaagaacaagatCccggaatcgaatgcatcgtt	9	9	0	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		Somatic				AKAP6_ENST00000557272.1_Intron	p.I1711M	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	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	9	89	---	---	---	---	G	33292152	C	G	33292152	3	3	147	1	0	0	0	0	1	0	0	0	455	845	30	4	5179	4	AKAP6	14	33292152	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		33292152	74057388	17	6714										
PLA2G4E	123745	broad.mit.edu	37	chr15	42278134	42278134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	agctggagttgacaaagaacGcagtgtccagcaggcacagg	14	9	0	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.chr15:42278134G>A	ENST00000399518.3	-	18	2591	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	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		Somatic				PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	p.A702V	NM_001206670.1	NP_001193599.1	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	A	42278134	G	A	42278134	3	1	147	1	0	0	0	0	1	0	0	0	12005	1087	38	2	513	2	PLA2G4E	15	42278134	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		42278134	60253258	18	6715										
IMP3	55272	broad.mit.edu	37	chr15	75931970	75931970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	atccgctaggcttccagatcGaagtcatcgcgctcctcatt	8	14	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.chr15:75931970G>T	ENST00000314852.2	-	2	1483	c.540C>A	c.(538-540)ttC>ttA	p.F180L	IMP3_ENST00000403490.1_Missense_Mutation_p.F180L|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000565349.1_5'Flank			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		Somatic				IMP3_ENST00000403490.1_Missense_Mutation_p.F180L	p.F180L			WXS	Illumina GAIIx	Phase_I	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	8	58	---	---	---	---	T	75931970	G	T	75931970	3	4	147	1	0	0	0	0	1	0	0	0	7719	1049	37	3	18	3	IMP3	15	75931970	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	33653836	75931970	26599422	19	6716										
GAN	8139	broad.mit.edu	37	chr16	81390408	81390408	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	aggtccacatgaaggatgttAtgtcagctctgtgggtttca	12	7	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.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)	ENST00000568107.2																			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		Somatic					p.M218L	NM_022041.3	NP_071324.1	WXS	Illumina GAIIx	Phase_I	Q9H2C0	GAN_HUMAN			4	814	+		Colorectal(91;0.153)				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	12	107	---	---	---	---	T	81390408	A	T	81390408	3	4	147	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	20	6717										
ZCCHC14	23174	broad.mit.edu	37	chr16	87451328	87451328	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	cgctctgcgaggacgggataCcagccactccacacacaggc	11	16	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.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		Somatic					p.G237A	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	G	87451328	C	G	87451328	3	3	147	1	0	0	0	0	1	0	0	0	17580	507	18	4	2163	4	ZCCHC14	16	87451328	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6060920	87451328	2903425	21	6718										
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ttccttccactcggataagaTgctgaggaggggccagacct	12	11	0	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_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_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)	Somatic				TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_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	WXS	Illumina GAIIx	Phase_I	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	7	21	---	---	---	---	C	7578271	T	C	7578271	3	2	147	1	0	0	0	0	1	0	0	0	16378	1464	51	2	716	2	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		7578271	73616939	22	6719										
KIF18B	146909	broad.mit.edu	37	chr17	43012683	43012683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ctgctggcgggcctccaggcGcctgtacagttccacggtgg	15	14	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.chr17:43012683G>A	ENST00000593135.1	-	3	512	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C|KIF18B_ENST00000587309.1_Missense_Mutation_p.R139C	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		Somatic				KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C	p.R139C	NM_001264573.1	NP_001251503.1	WXS	Illumina GAIIx	Phase_I					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	3	25	---	---	---	---	A	43012683	G	A	43012683	3	1	147	1	0	0	0	0	1	0	0	0	8281	1087	38	2	2207	2	KIF18B	17	43012683	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	35434412	43012683	38182527	23	6720										
HOXB5	3215	broad.mit.edu	37	chr17	46670614	46670614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	tgcttagctggcttgccgctTcctcaggctccgaggacgcg	13	14	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.chr17:46670614T>G	ENST00000239151.5	-	1	709	c.431A>C	c.(430-432)gAa>gCa	p.E144A	HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA	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		Somatic				HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	p.E144A	NM_002147.3	NP_002138.1	WXS	Illumina GAIIx	Phase_I	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	4	30	---	---	---	---	G	46670614	T	G	46670614	3	3	147	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	24	6721										
SPOP	8405	broad.mit.edu	37	chr17	47696457	47696462	+	In_Frame_Del	DEL	TGCCCG	TGCCCG	-													0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	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_ENST00000504102.1_In_Frame_Del_p.RA121del|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393331.3_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)cgggcadel		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)	Somatic				SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del	p.RA121del	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	147	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	25	6722										
CPT1C	126129	broad.mit.edu	37	chr19	50204808	50204808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	aggacttcgactggaccgcgGtcctggcgcaggaattcctg	14	12	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.chr19:50204808G>A	ENST00000392518.4	+	7	982	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_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		Somatic				CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I	p.V204I	NM_001199752.1	NP_001186681.1	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	A	50204808	G	A	50204808	3	1	147	1	0	0	0	0	1	0	0	0	3833	1261	44	2	628	2	CPT1C	19	50204808	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		50204808	8924175	26	6723										
NLRP4	147945	broad.mit.edu	37	chr19	56372782	56372782	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	agcctcatctgttggcatcaCatctgctctgtgctcaccac	7	15	6	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.chr19:56372782C>A	ENST00000301295.6	+	4	2309	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q	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		Somatic				NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q	p.H629Q	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	A	56372782	C	A	56372782	3	1	147	1	0	0	0	0	1	0	0	0	10479	477	17	3	1897	3	NLRP4	19	56372782	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6167974	56372782	2756201	27	6724										
TTC38	55020	broad.mit.edu	37	chr22	46685404	46685404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	aaccctgaccgcgtcctggaGctgctcctgcccatccgcta	9	18	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.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			Somatic				TTC38_ENST00000445282.2_Silent_p.E338E	p.E396E	NM_017931.2	NP_060401	WXS	Illumina GAIIx	Phase_I	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	10	60	---	---	---	---	A	46685404	G	A	46685404	2	1	147	1	0	0	0	0	0	0	0	1	16703	962	34	2		2	TTC38	22	46685404	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		46685404	4619162	28	6725										
HUWE1	10075	broad.mit.edu	37	chrX	53618049	53618049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.583976833976834	0	1.02195945945946	1	1	0	ggtgttcaacagtgcctccaTtgcatgttcccttgtgaagc	10	11	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.chrX:53618049T>C	ENST00000342160.3	-	33	4463	c.4006A>G	c.(4006-4008)Atg>Gtg	p.M1336V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_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		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V	p.M1336V			WXS	Illumina GAIIx	Phase_I	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	4	12	---	---	---	---	C	53618049	T	C	53618049	3	2	147	1	0	0	0	0	1	0	0	0	7461	1493	52	2	9322	2	HUWE1	23	53618049	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		53618049	101652511	29	6726										
TEKT2	27285	broad.mit.edu	37	chr1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tgaagcagaagctggcgcaaGcacagtaggtctcgggagtg	16	8	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.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		Somatic					p.A359T	NM_014466.2	NP_055281.2	WXS	Illumina GAIIx	Phase_I	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	4	31	---	---	---	---	A	36553404	G	A	36553404	3	1	148	1	0	0	0	0	1	0	0	0	15750	971	34	2	1105	2	TEKT2	1	36553404	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		36553404	212697217	1	6727										
NES	10763	broad.mit.edu	37	chr1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	gtaggcctccaggcgccgatTgagctcccacatctgaaacg	11	14	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.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		Somatic					p.N16D	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	C	156647011	T	C	156647011	3	2	148	1	0	0	0	0	1	0	0	0	10337	1812	63	2	4835	2	NES	1	156647011	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08	120093607	156647011	92603610	2	6728										
CD1A	909	broad.mit.edu	37	chr1	158226847	158226847	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	gagggccaggacatcgtcctCtactggggtgagaaaaagct	14	9	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.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			Somatic					p.L292L	NM_001763.2	NP_001754.2	WXS	Illumina GAIIx	Phase_I	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	5	60	---	---	---	---	T	158226847	C	T	158226847	2	4	148	1	0	0	0	0	0	0	0	1	2974	900	32	2		2	CD1A	1	158226847	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	1579836	158226847	91023774	3	6729										
ATAD2B	54454	broad.mit.edu	37	chr2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tttccttcgtggtggagccaTtgatgcctgattgagaatca	11	8	1	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.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		Somatic				ATAD2B_ENST00000474583.1_5'UTR	p.M917V	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina GAIIx	Phase_I	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	12	48	---	---	---	---	C	24011409	T	C	24011409	3	2	148	1	0	0	0	0	1	0	0	0	1072	1493	52	2	1663	2	ATAD2B	2	24011409	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		24011409	219187964	4	6730										
TTN	7273	broad.mit.edu	37	chr2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	aggtgggtttcttccactgaAgagtcacagaattccttgtg	11	8	2	3	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-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_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|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L25025R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_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		Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R	p.L25025R	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	3	170	---	---	---	---	C	179435785	A	C	179435785	3	2	148	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	6731										
SLC4A7	9497	broad.mit.edu	37	chr3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-													0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	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_ENST00000428386.1_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs	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)ttafs		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		Somatic				SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000455077.1_Intron	p.L372fs	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	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	148	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	6	6732										
CADPS	8618	broad.mit.edu	37	chr3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	ctgcaaagagtgacaggaacGtctccgcatgctccaccatt	9	13	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.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	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		Somatic				CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	p.T924M	NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	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	7	510	---	---	---	---	A	62478078	G	A	62478078	3	1	148	1	0	0	0	0	1	0	0	0	2570	1145	40	2	1334	2	CADPS	3	62478078	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	35005281	62478078	135544352	7	6733										
TIFA	92610	broad.mit.edu	37	chr4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tttctctctgttaaaacttaTtgactgaaatattccacact	3	9	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.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																																						ENST00000361717.3																			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		Somatic				TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	p.I34V	NM_052864.2	NP_443096.1	WXS	Illumina GAIIx	Phase_I	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	381	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)							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	46	121	---	---	---	---	C	113199473	T	C	113199473	3	2	148	1	0	0	0	0	1	0	0	0	15891	1493	52	2	458	2	TIFA	4	113199473	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		113199473	77954803	8	6734										
SLC9A3	6550	broad.mit.edu	37	chr5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-													0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	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_ENST00000607005.1_RNA|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	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)gacfs		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		Somatic				CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	p.D529fs	NM_004174.2	NP_004165.2	WXS	Illumina GAIIx	Phase_I	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	148	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	9	6735										
ODZ2	57451	broad.mit.edu	37	chr5	167673770	167673770	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tcctttctgcagtccatggtCctcctgcttcagagccaacg	8	15	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.chr5:167673770C>A	ENST00000518659.1	+	27	5865	c.5826C>A	c.(5824-5826)gtC>gtA	p.V1942V	TENM2_ENST00000519204.1_Silent_p.V1821V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000520394.1_Silent_p.V1703V	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			Somatic				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			WXS	Illumina GAIIx	Phase_I					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	95	334	---	---	---	---	A	167673770	C	A	167673770	2	1	148	1	0	0	0	0	0	0	0	1	10835	842	30	3		3	ODZ2	5	167673770	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	167193758	167673770	13241490	10	6736										
LPA	4018	broad.mit.edu	37	chr6	161020597	161020597	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	atagatgaccaagcttggcaAgttcttcctgtgacagtggt	11	8	1	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.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			Somatic				LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	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	5	516	---	---	---	---	G	161020597	A	G	161020597	2	3	148	1	0	0	0	0	0	0	0	1	8903	59	3	2		2	LPA	6	161020597	Silent	SNP	A	TCGA-G9-7519-01A-11D-2260-08		161020597	10094470	11	6737										
ARHGEF5	7984	broad.mit.edu	37	chr7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-													0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	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)acafs		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		Somatic				ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	p.T1365fs	NM_005435.3	NP_005426.2	WXS	Illumina GAIIx	Phase_I	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	148	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		144070332	15068331	12	6738										
MTERFD1	51001	broad.mit.edu	37	chr8	97269341	97269341	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	aatggaggcaattcatccagTtctttgaaagagagaaacaa	9	6	2	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_ENST00000522822.1_5'UTR|MTERFD1_ENST00000523821.1_Splice_Site_p.E112E|MTERFD1_ENST00000524341.1_5'Flank	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.(334-336)gaA>gaG		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			Somatic				MTERFD1_ENST00000287025.3_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR	p.E112E			WXS	Illumina GAIIx	Phase_I	Q96E29	MTER1_HUMAN			3	455	-	Breast(36;5.16e-05)		112					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.336A>G	CCDS6270.1																																																																																				0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Silent	4	77	4	77	---	---	---	---	C	97269341	T	C	97269341	5	2	148	1	0	0	0	0	0	0	1	0	9919	1739	60	2	941	2	MTERFD1	8	97269341	Splice_Site	SNP	T	TCGA-G9-7519-01A-11D-2260-08		97269341	49094681	13	6739										
IFNA4	3441	broad.mit.edu	37	chr9	21186979	21186979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tttcaatccttcctccttaaTcttttttgcaagtttgttga	4	9	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.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			Somatic					p.R184R	NM_021068.2	NP_066546.1	WXS	Illumina GAIIx	Phase_I	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	7	197	---	---	---	---	C	21186979	T	C	21186979	2	2	148	1	0	0	0	0	0	0	0	1	7539	1432	50	2		2	IFNA4	9	21186979	Silent	SNP	T	TCGA-G9-7519-01A-11D-2260-08		21186979	120026452	14	6740										
TDRD1	56165	broad.mit.edu	37	chr10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	aagaatctgtactggtcggaTatgtagattatggaaacttt	10	4	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.chr10:115971690T>C	ENST00000369280.1	+	14	2186	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y576H|TDRD1_ENST00000369281.2_Intron			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		Somatic				TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron	p.Y576H	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	C	115971690	T	C	115971690	3	2	148	1	0	0	0	0	1	0	0	0	15727	1406	49	2	1776	2	TDRD1	10	115971690	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		115971690	19563057	15	6741										
MFSD5	84975	broad.mit.edu	37	chr12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	cggcagcgtgccttctcaagGacctgtgctggaggcctgcg	15	13	1	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.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		Somatic				MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	p.R341S	NM_001170790.1	NP_001164261.1	WXS	Illumina GAIIx	Phase_I	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	12	74	---	---	---	---	C	53647321	G	C	53647321	3	2	148	1	0	0	0	0	1	0	0	0	9534	1165	41	4	1029	4	MFSD5	12	53647321	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		53647321	80204574	16	6742										
SRGAP1	57522	broad.mit.edu	37	chr12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	caaaacctgctgttcttccaAaaacaaatcctaccatagga	4	12	1	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.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E	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		Somatic				SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E	p.K1064E	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	G	64536384	A	G	64536384	3	3	148	1	0	0	0	0	1	0	0	0	15144	15	1	2	3276	2	SRGAP1	12	64536384	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	10889063	64536384	69315511	17	6743										
MYO1H	283446	broad.mit.edu	37	chr12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	aactaaataaccatttcatcCtcatttctggagagagtggg	8	8	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.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		Somatic				MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V	p.L102V			WXS	Illumina GAIIx	Phase_I	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	4	40	---	---	---	---	G	109834250	C	G	109834250	3	3	148	1	0	0	0	0	1	0	0	0	10075	681	24	4	314	4	MYO1H	12	109834250	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	45297866	109834250	24017645	18	6744										
OR3A1	4994	broad.mit.edu	37	chr17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	caggaagaagtacatgggggTgtggagtttgggctccacca	16	7	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.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		Somatic				RP11-64J4.2_ENST00000573491.1_RNA	p.T60A	NM_002550.2	NP_002541.2	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	C	3195699	T	C	3195699	3	2	148	1	0	0	0	0	1	0	0	0	11037	1696	59	2	773	2	OR3A1	17	3195699	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		3195699	77999511	19	6745										
KLK14	43847	broad.mit.edu	37	chr19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	agttccccagcctgacactcGgcaggaggtcccggggctgg	15	14	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*		Somatic				KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	p.R160*	NM_022046.4	NP_071329.2	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	A	51582742	G	A	51582742	4	1	148	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		51582742	7546241	20	6746										
TFIP11	24144	broad.mit.edu	37	chr22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	cttcctctgagtcaaccacaGggaagtcttgcatggactga	10	11	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.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_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_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		Somatic				TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L	p.P206L	NM_012143.2	NP_036275.1	WXS	Illumina GAIIx	Phase_I	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	28	61	---	---	---	---	A	26899663	G	A	26899663	3	1	148	1	0	0	0	0	1	0	0	0	15804	1000	35	2	1932	2	TFIP11	22	26899663	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		26899663	24404903	21	6747										
KDELR3	11015	broad.mit.edu	37	chr22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	ggatcaggcggtaccagactGagaatttctatgaccaaatt	10	8	2	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.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	11015				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		Somatic				KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K|KDELR3_ENST00000471268.1_3'UTR	p.E173K	NM_006855.2	NP_006846.1	WXS	Illumina GAIIx	Phase_I	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	3	106	---	---	---	---	A	38877382	G	A	38877382	3	1	148	1	0	0	0	0	1	0	0	0	8121	1291	45	2	531	2	KDELR3	22	38877382	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	11977719	38877382	12427184	22	6748										
FAM120C	54954	broad.mit.edu	37	chrX	54185950	54185950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	gtagtaagagggaatattgtAgagagcatactcggagtcat	13	4	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.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		Somatic				FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	p.Y267H	NM_017848.4	NP_060318.3	WXS	Illumina GAIIx	Phase_I	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	3	45	---	---	---	---	G	54185950	A	G	54185950	3	3	148	1	0	0	0	0	1	0	0	0	5418	420	15	2	2551	2	FAM120C	23	54185950	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08		54185950	101084610	23	6749										
MED12	9968	broad.mit.edu	37	chrX	70349255	70349255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	tggatggagccgtgtttgctGttctcaaggctgtgtttgta	14	6	1	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	13	20	---	---	---	---	C	70349255	G	C	70349255	3	2	148	1	0	0	0	0	1	0	0	0	9428	1377	48	4	3769	4	MED12	23	70349255	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	16163305	70349255	84921305	24	6750										
MAP7D3	79649	broad.mit.edu	37	chrX	135314292	135314292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.45454545454545	0	2.18181818181818	0.333333333333333	1	0	gtattttcattgtcgacatgGgaaacataacagccctcaat	7	9	2	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.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		Somatic				MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H	p.P275H	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	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	3	109	---	---	---	---	T	135314292	G	T	135314292	3	4	148	1	0	0	0	0	1	0	0	0	9269	1232	43	1	1850	1	MAP7D3	23	135314292	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	64965037	135314292	19956268	25	6751										
MFSD6	54842	broad.mit.edu	37	chr2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	tccagtggctggcagtgccaGatgaggaagaaggtaattat	14	6	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.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H|MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H	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		Somatic				MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	p.D627H	NM_017694.3	NP_060164.3	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	C	191354580	G	C	191354580	3	2	149	1	0	0	0	0	1	0	0	0	9535	942	33	4	1893	4	MFSD6	2	191354580	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		191354580	51844793	1	6752										
DNAH1	25981	broad.mit.edu	37	chr3	52412685	52412685	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	accatcatggtgtatgcaacCatcacctcccagctgctgcc	7	16	2	0			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			Somatic					p.T2422T	NM_015512.4	NP_056327	WXS	Illumina GAIIx	Phase_I	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	74	194	---	---	---	---	A	52412685	C	A	52412685	2	1	149	1	0	0	0	0	0	0	0	1	4597	581	21	1		1	DNAH1	3	52412685	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		52412685	145609745	2	6753										
HNRNPA0	10949	broad.mit.edu	37	chr5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	tctcggccttttccacggtgCcaaactgcgagaagtgctcg	11	13	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.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		Somatic					p.G122V	NM_006805.3	NP_006796.1	WXS	Illumina GAIIx	Phase_I	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	3	82	---	---	---	---	A	137089391	C	A	137089391	3	1	149	1	0	0	0	0	1	0	0	0	7256	739	26	3	556	3	HNRNPA0	5	137089391	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08		137089391	43825869	3	6754										
FAT2	2196	broad.mit.edu	37	chr5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	cactcctggcctggaggctgAggttgaacccatgaaggtac	13	11	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.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		Somatic					p.L331R	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	5	230	---	---	---	---	C	150947501	A	C	150947501	3	2	149	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	4	6755										
ATP10B	23120	broad.mit.edu	37	chr5	160114977	160114977	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	aagttgtagctctgtctcccTttctctggagagagcagcgg	12	10	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.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			Somatic				ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	p.K35K	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	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	3	158	---	---	---	---	C	160114977	T	C	160114977	2	2	149	1	0	0	0	0	0	0	0	1	1117	1606	56	2		2	ATP10B	5	160114977	Silent	SNP	T	TCGA-G9-7521-01A-11D-2260-08	9167476	160114977	20800283	5	6756										
NSD1	64324	broad.mit.edu	37	chr5	176720972	176720972	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	aaactggatgggcgtctgtcTtgtactgagcatgacccctg	12	10	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_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S	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)	Somatic				NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S	p.S2201S	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	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	35	51	---	---	---	---	A	176720972	T	A	176720972	2	1	149	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	6	6757										
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101129	27101129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	gccatccgcaacgacgaggaGctcaacaagctgctgggcaa	12	13	1	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_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000339812.2_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			Somatic					p.E93E	NM_021064.4	NP_066408.1	WXS	Illumina GAIIx	Phase_I	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	4	204	---	---	---	---	A	27101129	G	A	27101129	2	1	149	1	0	0	0	0	0	0	0	1	7133	962	34	2		2	HIST1H2AG	6	27101129	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		27101129	144013938	7	6758										
WBSCR22	114049	broad.mit.edu	37	chr7	73112192	73112192	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	cctgacacccagtacaccggCcgcaagcgcaagccccgctt	9	19	0	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.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	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			Somatic				WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	p.G274G	NM_017528.4	NP_059998.2	WXS	Illumina GAIIx	Phase_I	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	10	53	---	---	---	---	G	73112192	C	G	73112192	2	3	149	1	0	0	0	0	0	0	0	1	17262	726	26	4		4	WBSCR22	7	73112192	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		73112192	86026471	8	6759										
MOSPD3	64598	broad.mit.edu	37	chr7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ccctctataaccccacaggaActgcgcttcgcttccgaggt	8	16	1	0	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		Somatic				MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	p.T63S	NM_023948.4	NP_076438.1	WXS	Illumina GAIIx	Phase_I	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	43	130	---	---	---	---	T	100210601	A	T	100210601	3	4	149	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	9	6760										
PSD	5662	broad.mit.edu	37	chr10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ccccgctgatccgcttgatgAccttggggttggggtcggcc	15	13	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		Somatic				PSD_ENST00000406432.1_Missense_Mutation_p.V731A	p.V731A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	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	29	45	---	---	---	---	G	104165237	A	G	104165237	3	3	149	1	0	0	0	0	1	0	0	0	12646	275	10	2	906	2	PSD	10	104165237	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08		104165237	31369510	10	6761										
TEAD1	7003	broad.mit.edu	37	chr11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ggtgtaaccagtcagtacgaGagttctgaaaatatgacagt	11	6	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.chr11:12946524G>T	ENST00000526600.1	+	6	874	c.651G>T	c.(649-651)gaG>gaT	p.E217D	RP11-47J17.2_ENST00000454086.2_RNA|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000361905.4_Missense_Mutation_p.E298D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D			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		Somatic				TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D	p.E298D	NM_021961.5	NP_068780.2	WXS	Illumina GAIIx	Phase_I	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	13	89	---	---	---	---	T	12946524	G	T	12946524	3	4	149	1	0	0	0	0	1	0	0	0	15735	933	33	3	973	3	TEAD1	11	12946524	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		12946524	122059992	11	6762										
ATM	472	broad.mit.edu	37	chr11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ggtgatagacatgtacagaaTatcttgataaatgagcagtc	10	5	1	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	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875K|C11orf65_ENST00000526725.1_Intron			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)	Somatic				ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron	p.N2875K	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	21	60	---	---	---	---	A	108218046	T	A	108218046	3	1	149	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	12	6763										
GOLGA2B	55592	broad.mit.edu	37	chr12	100551034	100551034	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ggtacagtgcgatgtactctCctgcaggaggacaggactca	13	10	2	0			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				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GATGTACTCTCCTGCAGGAGG	0.622																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															114	97	103					12																	100551034		2203	4300	6503			55592							g.chr12:100551034C>G																													12.37:g.100551034C>G			Somatic				AC010203.1_ENST00000408843.1_RNA		NR_036632.1		WXS	Illumina GAIIx	Phase_I					0	1893	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.622	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			36	64	36	64	---	---	---	---	G	100551034	C	G	100551034	1	3	149	0	1	0	0	0	0	0	0	0	6553	869	30	4		4	GOLGA2B	12	100551034	RNA	SNP	C	TCGA-G9-7521-01A-11D-2260-08		100551034	33300861	13	6764										
NUP37	79023	broad.mit.edu	37	chr12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	cctgaataagcaggctcgatCcatgtgaacaggtctcttat	9	10	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.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.D252H|NUP37_ENST00000543021.1_5'Flank			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		Somatic				NUP37_ENST00000251074.1_Missense_Mutation_p.D252H	p.D252H			WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	G	102470594	C	G	102470594	3	3	149	1	0	0	0	0	1	0	0	0	10764	855	30	4	238	4	NUP37	12	102470594	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	1919560	102470594	31381301	14	6765										
USP30	84749	broad.mit.edu	37	chr12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	tttcagagtcctgttcgattTgatacctttgatagcctttc	7	9	1	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.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		Somatic				USP30_ENST00000392784.2_Missense_Mutation_p.F214L	p.F245L	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	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	33	75	---	---	---	---	G	109519153	T	G	109519153	3	3	149	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	15	6766										
SMAD9	4093	broad.mit.edu	37	chr13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	gctgagcgaagagctggttgTtgaagaccttgaggctgcag	16	7	0	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.chr13:37427659T>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		Somatic				SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	p.N386S	NM_001127217.2	NP_001120689.1	WXS	Illumina GAIIx	Phase_I	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	7	44	---	---	---	---	C	37427659	T	C	37427659	3	2	149	1	0	0	0	0	1	0	0	0	14764	1725	60	2	254	2	SMAD9	13	37427659	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08		37427659	77742219	16	6767										
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	cttgcggagattctcttcctCtgtgcgccggtctctcccag	10	15	3	1	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_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_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)	Somatic				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	21	26	---	---	---	---	T	7577085	C	T	7577085	3	4	149	1	0	0	0	0	1	0	0	0	16378	922	32	2	433	2	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08		7577085	73618125	17	6768										
WSB1	26118	broad.mit.edu	37	chr17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	agttcaggagctgccgattcCttccaagcttttggagtttc	10	10	1	0			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	WSB1_ENST00000348811.2_Missense_Mutation_p.P264L|RP11-173M1.8_ENST00000578929.1_lincRNA	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		Somatic				WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	p.P410L	NM_015626.8	NP_056441.6	WXS	Illumina GAIIx	Phase_I	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	5	271	---	---	---	---	T	25639358	C	T	25639358	3	4	149	1	0	0	0	0	1	0	0	0	17401	681	24	2	1263	2	WSB1	17	25639358	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	18062273	25639358	55555852	18	6769										
PSME3	10197	broad.mit.edu	37	chr17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	tcaggaaccaatcttaaacaTccatgacctaactcagatcc	4	13	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.chr17:40986805T>G	ENST00000590720.1	+	4	388	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000293362.3_Missense_Mutation_p.I52S|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron			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		Somatic				PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron	p.I52S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	WXS	Illumina GAIIx	Phase_I	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	25	82	---	---	---	---	G	40986805	T	G	40986805	3	3	149	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	19	6770										
TMC8	147138	broad.mit.edu	37	chr17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	ggtcctacttcaccttcctcCgcttcctgctgctactcaac	5	18	2	0			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	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_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		Somatic				TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'UTR	p.R114G	NM_152468.4	NP_689681.2	WXS	Illumina GAIIx	Phase_I	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	11	32	---	---	---	---	G	76128481	C	G	76128481	3	3	149	1	0	0	0	0	1	0	0	0	15988	652	23	4	350	4	TMC8	17	76128481	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	35141676	76128481	5066729	20	6771										
KIAA0802	23255	broad.mit.edu	37	chr18	8824763	8824763	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	atctcccccttcctgcctgaGaagggcctgccgtccaccag	9	18	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_ENST00000359865.3_Silent_p.E1085E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E																							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			Somatic				SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000517570.1_Silent_p.E1044E	p.E1085E	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	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	23	57	---	---	---	---	A	8824763	G	A	8824763	2	1	149	1	0	0	0	0	0	0	0	1	8194	933	33	2		2	KIAA0802	18	8824763	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		8824763	69252485	21	6772										
DSEL	92126	broad.mit.edu	37	chr18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	atgagtcgatttccaactcaGtttcaggaatatcaatgtag	8	7	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.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_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		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.T903N	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	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	15	48	---	---	---	---	T	65179168	G	T	65179168	3	4	149	1	0	0	0	0	1	0	0	0	4775	1029	36	3	964	3	DSEL	18	65179168	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	56354405	65179168	12898080	22	6773										
FEM1A	55527	broad.mit.edu	37	chr19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	tgacgggccacaccaacatcGtggagtacctcatccaggag	11	13	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.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	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		Somatic				AC005523.2_ENST00000601192.1_RNA	p.V231M	NM_018708.2	NP_061178.1	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	A	4792557	G	A	4792557	3	1	149	1	0	0	0	0	1	0	0	0	5809	1145	40	2	693	2	FEM1A	19	4792557	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		4792557	54336426	23	6774										
ZNF549	256051	broad.mit.edu	37	chr19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	3	1	1.95765877957659	1.43561643835616	2.39269406392694	1	1	0	gaaatgctttagacaccgcaCcagcctcattcaacaccaga	6	14	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.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF549_ENST00000602149.1_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		Somatic				ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	p.T570I	NM_001199295.1	NP_001186224	WXS	Illumina GAIIx	Phase_I	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	8	43	---	---	---	---	T	58050081	C	T	58050081	3	4	149	1	0	0	0	0	1	0	0	0	17978	507	18	2	1680	2	ZNF549	19	58050081	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	53257524	58050081	1078902	24	6775										
DNAJB8	165721	broad.mit.edu	37	chr3	128181921	128181921	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcgtttcttggagtcagaCagaacctcataggcctcaga	11	10	4	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-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Silent_p.L56L			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			Somatic				DNAJB8_ENST00000319153.3_Silent_p.L56L	p.L56L			WXS	Illumina GAIIx	Phase_I	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	23	218	---	---	---	---	G	128181921	C	G	128181921	2	3	150	1	0	0	0	0	0	0	0	1	4626	465	17	4		4	DNAJB8	3	128181921	Silent	SNP	C	TCGA-G9-7522-01A-11D-2260-08		128181921	69840509	1	6776										
PPP1R3B	79660	broad.mit.edu	37	chr8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgacaaggaaagtctgtgtAgctcttccaggtgtcgaacg	12	9	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.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	RP11-10A14.3_ENST00000522057.1_RNA|RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	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		Somatic				PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	WXS	Illumina GAIIx	Phase_I	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	20	156	---	---	---	---	C	8998648	A	C	8998648	3	2	150	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	2	6777										
AHNAK	79026	broad.mit.edu	37	chr11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_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)gatfs		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		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D770fs	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	150	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	3	6778										
ATP6V0A2	23545	broad.mit.edu	37	chr12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatgtagagaaatggcgtGtgaagaggtaaatcttttca	13	3	2	3	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		Somatic					p.C723Y	NM_012463.3	NP_036595.2	WXS	Illumina GAIIx	Phase_I	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	3	87	---	---	---	---	A	124236942	G	A	124236942	3	1	150	1	0	0	0	0	1	0	0	0	1169	1377	48	2	2234	2	ATP6V0A2	12	124236942	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		124236942	9614953	4	6779										
TLN2	83660	broad.mit.edu	37	chr15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagccaacccagagaatgagGaccagcagcaaaggctgaga	12	11	0	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.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		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.D888N	p.D888N			WXS	Illumina GAIIx	Phase_I	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	3	77	---	---	---	---	A	63008557	G	A	63008557	3	1	150	1	0	0	0	0	1	0	0	0	15945	1174	41	2	2740	2	TLN2	15	63008557	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		63008557	39522835	5	6780										
STAC2	342667	broad.mit.edu	37	chr17	37369385	37369385	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacccggtcgccgatcttgcCctggggatgaggttggcaat	14	11	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.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.(994-996)Ggc>Tgc		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			Somatic					p.G332C	NM_198993.3	NP_945344.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			10	1363	-			332			SH3.		Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	c.994G>T	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	5	167	---	---	---	---	A	37369385	C	A	37369385	5	1	150	1	0	0	0	0	0	0	1	0	15239	637	22	1	249	1	STAC2	17	37369385	Splice_Site	SNP	C	TCGA-G9-7522-01A-11D-2260-08		37369385	43825825	6	6781										
SCN4A	6329	broad.mit.edu	37	chr17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccattgcagtctttgccatGggctgggtccccatctgcct	11	14	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.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		Somatic				SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	p.H502Y	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	A	62041134	G	A	62041134	3	1	150	1	0	0	0	0	1	0	0	0	13920	1348	47	2	4066	2	SCN4A	17	62041134	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	24671749	62041134	19154076	7	6782										
CDK5RAP1	51654	broad.mit.edu	37	chr20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgcatggcctccaacacacGgctgcttccactctgggctg	10	17	1	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.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|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		Somatic				CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C	p.R408C			WXS	Illumina GAIIx	Phase_I	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	61	372	---	---	---	---	A	31961946	G	A	31961946	3	1	150	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	8	6783										
SUN2	25777	broad.mit.edu	37	chr22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggggtgactgggagtggtaCcacagggggatgccgaagag	20	7	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.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*|RP3-508I15.14_ENST00000416406.1_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*		Somatic				SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	p.W582*	NM_001199580.1	NP_001186509.1	WXS	Illumina GAIIx	Phase_I	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	10	56	---	---	---	---	T	39134911	C	T	39134911	4	4	150	1	0	0	0	0	0	1	0	0	15389	508	18	2	423	2	SUN2	22	39134911	Nonsense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		39134911	12169655	9	6784										
SERHL2	253190	broad.mit.edu	37	chr22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctgcaggcagagaacagCattgacttcatcagcaggga	11	10	3	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	SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RNU6-513P_ENST00000516104.1_RNA|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R	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		Somatic				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	p.S220R	NM_014509.3	NP_055324.2	WXS	Illumina GAIIx	Phase_I	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	3	102	---	---	---	---	A	42967138	C	A	42967138	3	1	150	1	0	0	0	0	1	0	0	0	14078	709	25	3	698	3	SERHL2	22	42967138	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08	3832227	42967138	8337428	10	6785										
MTF1	4520	broad.mit.edu	37	chr1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tcctggtacaatgggctgcgGtgcctgggggtgcggaagaa	18	8	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.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		Somatic					p.P492S	NM_005955.2	NP_005946.2	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	A	38288086	G	A	38288086	3	1	151	1	0	0	0	0	1	0	0	0	9922	1261	44	2	799	2	MTF1	1	38288086	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		38288086	210962535	1	6786										
RGL1	23179	broad.mit.edu	37	chr1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gatcatgttcgaatatgggaAgttttaaagacagaggaggt	13	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.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																																						ENST00000304685.4																			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		Somatic				RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	p.E38D	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			2	563	+								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	4	159	---	---	---	---	C	183711406	A	C	183711406	3	2	151	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	145423320	183711406	65539215	2	6787										
C2orf76	130355	broad.mit.edu	37	chr2	120078761	120078761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tttctgaatggtggtggcagGttggtccttaaagggatatc	14	5	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.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N|C2orf76_ENST00000409523.1_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			Somatic				C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N	p.N51N			WXS	Illumina GAIIx	Phase_I	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	12	62	---	---	---	---	A	120078761	G	A	120078761	2	1	151	1	0	0	0	0	0	0	0	1	2193	1252	44	2		2	C2orf76	2	120078761	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		120078761	123120612	3	6788										
RAPGEF4	11069	broad.mit.edu	37	chr2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tggatgatgagcacgaggatGcccctttgcctactgaggag	14	9	0	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.chr2:173832057G>T	ENST00000397081.3	+	10	1032	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.A296S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S	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		Somatic				RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S	p.A296S			WXS	Illumina GAIIx	Phase_I	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	10	26	---	---	---	---	T	173832057	G	T	173832057	3	4	151	1	0	0	0	0	1	0	0	0	13046	1319	46	3	943	3	RAPGEF4	2	173832057	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	53753296	173832057	69367316	4	6789										
SP3	6670	broad.mit.edu	37	chr2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	attagtaacctgtatgtgttCttctgtgcctctgtaattca	7	8	4	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.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		Somatic				SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	p.R673T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	G	174777809	C	G	174777809	3	3	151	1	0	0	0	0	1	0	0	0	14965	913	32	4	335	4	SP3	2	174777809	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	945752	174777809	68421564	5	6790										
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	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		Somatic				IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H	NM_001282387.1	NP_001269316.1	WXS	Illumina GAIIx	Phase_I	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	23	93	---	---	---	---	T	209113112	C	T	209113112	3	4	151	1	0	0	0	0	1	0	0	0	7494	536	19	2	877	2	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	34335303	209113112	34086261	6	6791										
WDR69	164781	broad.mit.edu	37	chr2	228786221	228786221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cctccaggttcttgaggggcAcactgatgaaatcttttcat	9	10	3	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.chr2:228786221A>C	ENST00000309931.2	+	12	1240	c.1157A>C	c.(1156-1158)cAc>cCc	p.H386P	DAW1_ENST00000545118.1_Missense_Mutation_p.H371P|DAW1_ENST00000373666.2_3'UTR	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		Somatic				DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.H371P	p.H386P	NM_178821.1	NP_849143.1	WXS	Illumina GAIIx	Phase_I					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	7	102	---	---	---	---	C	228786221	A	C	228786221	3	2	151	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	7	6792										
SCAP	22937	broad.mit.edu	37	chr3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tcccacaggcagatggccccAtcttgtcctccactggccag	9	17	1	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_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	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		Somatic				SCAP_ENST00000545718.1_Missense_Mutation_p.D746E|SCAP_ENST00000441517.2_Missense_Mutation_p.D883E	p.D1139E	NM_012235.2	NP_036367.2	WXS	Illumina GAIIx	Phase_I	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	6	92	---	---	---	---	C	47455847	A	C	47455847	3	2	151	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		47455847	150566583	8	6793										
IBTK	25998	broad.mit.edu	37	chr6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gatttaggtttgctcttctgCctctcactaactgtttgagc	8	10	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.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		Somatic				IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	p.R697S	NM_015525.2	NP_056340.2	WXS	Illumina GAIIx	Phase_I	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	12	73	---	---	---	---	A	82924057	C	A	82924057	3	1	151	1	0	0	0	0	1	0	0	0	7476	738	26	3	2042	3	IBTK	6	82924057	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08		82924057	88191010	9	6794										
LAMA2	3908	broad.mit.edu	37	chr6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tattcagctggcagagggcaAtctgaatacactcgtgaccg	11	10	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.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		Somatic					p.N1639I	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	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	3	107	---	---	---	---	T	129691092	A	T	129691092	3	4	151	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	10	6795										
SAMD3	154075	broad.mit.edu	37	chr6	130467207	130467207	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	attttttcttgcaatacaatAttgattggattgtccaccac	5	8	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.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|SAMD3_ENST00000457563.2_Silent_p.N405N|RP11-73O6.3_ENST00000609978.1_RNA	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			Somatic				SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N|SAMD3_ENST00000439090.2_Silent_p.N381N	p.N381N	NM_001258275.1	NP_001245204.1	WXS	Illumina GAIIx	Phase_I	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	19	60	---	---	---	---	G	130467207	A	G	130467207	2	3	151	1	0	0	0	0	0	0	0	1	13820	446	16	2		2	SAMD3	6	130467207	Silent	SNP	A	TCGA-G9-7523-01A-11D-2260-08	776115	130467207	40647860	11	6796										
RAMP3	10268	broad.mit.edu	37	chr7	45222942	45222942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	atcccgctgatcgttataccCgtcgttctgactgtcgccat	8	14	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.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000496212.1_Silent_p.P126P|RAMP3_ENST00000481345.1_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			Somatic				RAMP3_ENST00000481345.1_Silent_p.P126P|RAMP3_ENST00000496212.1_Silent_p.P126P	p.P126P	NM_005856.2	NP_005847.1	WXS	Illumina GAIIx	Phase_I	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	69	298	---	---	---	---	T	45222942	C	T	45222942	2	4	151	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	12	6797										
COPS6	10980	broad.mit.edu	37	chr7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tttccctccacccttagtagTccccagcgtgatggcctgcg	9	16	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.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		Somatic				COPS6_ENST00000418625.1_Splice_Site_p.V26G	p.V27G	NM_006833.4	NP_006824.2	WXS	Illumina GAIIx	Phase_I	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	5	236	---	---	---	---	G	99686916	T	G	99686916	3	3	151	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	13	6798										
COPS6	10980	broad.mit.edu	37	chr7	99688238	99688238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tgtgagatcatcgagagcccCctctttctgaagttgaaccc	9	12	3	4	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	COPS6_ENST00000418625.1_Silent_p.P148P|MIR25_ENST00000384816.1_RNA	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			Somatic				COPS6_ENST00000418625.1_Silent_p.P148P	p.P149P	NM_006833.4	NP_006824.2	WXS	Illumina GAIIx	Phase_I	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	4	127	---	---	---	---	T	99688238	C	T	99688238	2	4	151	1	0	0	0	0	0	0	0	1	3737	610	22	2		2	COPS6	7	99688238	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08	1322	99688238	59450425	14	6799										
AHCYL2	23382	broad.mit.edu	37	chr7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cgtttgtaacatgggacattCcaacacagagattgacgtgg	11	8	0	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.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y	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		Somatic				AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y	p.S481Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	WXS	Illumina GAIIx	Phase_I	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	19	109	---	---	---	---	A	129053510	C	A	129053510	3	1	151	1	0	0	0	0	1	0	0	0	411	855	30	3	1610	3	AHCYL2	7	129053510	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	29365272	129053510	30085153	15	6800										
SNTG1	54212	broad.mit.edu	37	chr8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tgctttttcattcacagcggAactttcaggactacttttta	6	9	3	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.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_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		Somatic				SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	p.E94V	NM_018967.2	NP_061840.1	WXS	Illumina GAIIx	Phase_I	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	4	127	---	---	---	---	T	51363119	A	T	51363119	3	4	151	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		51363119	95000903	16	6801										
PGCP	10404	broad.mit.edu	37	chr8	97847312	97847312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	accttacatcaactactcaaGgacggtgcaataccgaacgc	7	13	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.chr8:97847312G>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		Somatic					p.R182K	NM_016134.2	NP_057218.1	WXS	Illumina GAIIx	Phase_I	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	3	98	---	---	---	---	A	97847312	G	A	97847312	3	1	151	1	0	0	0	0	1	0	0	0	11786	1000	35	2	551	2	PGCP	8	97847312	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	46484193	97847312	48516710	17	6802										
DENND3	22898	broad.mit.edu	37	chr8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cgagtgtgacctttggcaccTgatggtgaaggagatgtggg	17	6	0	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.chr8:142186811T>C	ENST00000262585.2	+	15	2695	c.2417T>C	c.(2416-2418)cTg>cCg	p.L806P	DENND3_ENST00000519811.1_Missense_Mutation_p.L886P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P	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		Somatic				DENND3_ENST00000262585.2_Missense_Mutation_p.L806P|DENND3_ENST00000424248.1_Missense_Mutation_p.L754P	p.L886P			WXS	Illumina GAIIx	Phase_I	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	3	127	---	---	---	---	C	142186811	T	C	142186811	3	2	151	1	0	0	0	0	1	0	0	0	4432	1580	55	2	2471	2	DENND3	8	142186811	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	44339499	142186811	4177211	18	6803										
BAI1	575	broad.mit.edu	37	chr8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cggacccctgcgcgagcagcGgctgtgcaacaactctgccg	13	16	1	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		Somatic				BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q	p.R398Q			WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	A	143558610	G	A	143558610	3	1	151	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	19	6804										
EXT2	2132	broad.mit.edu	37	chr11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	agttgtgaggactgctgaaaAcaagttaagtaaccgtttct	10	6	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.chr11:44228397A>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		Somatic				EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I	p.N550I	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	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	4	129	---	---	---	---	T	44228397	A	T	44228397	3	4	151	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	20	6805										
C11orf84	144097	broad.mit.edu	37	chr11	63581248	63581248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gacgaggaggaggccatggtGgtggccgtaattccgcggcc	18	10	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.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			Somatic					p.V30V	NM_138471.1	NP_612480.1	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	A	63581248	G	A	63581248	2	1	151	1	0	0	0	0	0	0	0	1	1667	1335	47	2		2	C11orf84	11	63581248	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08	19352851	63581248	71425268	21	6806										
PHLDB1	23187	broad.mit.edu	37	chr11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gggccgaacattttcagatgGgttagccacccgtaccctgc	11	13	1	1	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		Somatic				PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	p.G432V	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	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	5	171	---	---	---	---	T	118498834	G	T	118498834	3	4	151	1	0	0	0	0	1	0	0	0	11851	1232	43	1	1313	1	PHLDB1	11	118498834	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	54917586	118498834	16507682	22	6807										
ANKRD33	341405	broad.mit.edu	37	chr12	52284995	52284995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gccgaagcccagtccttcagGacaccaaagtctggcccttc	9	16	2	0	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_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000301190.6_Missense_Mutation_p.G422E			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			Somatic				ANKRD33_ENST00000538991.1_Silent_p.R161R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Silent_p.R230R	p.G422E	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	WXS	Illumina GAIIx	Phase_I	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	3	64	---	---	---	---	A	52284995	G	A	52284995	2	1	151	1	0	0	0	0	0	0	0	1	661	1174	41	2		2	ANKRD33	12	52284995	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		52284995	81566900	23	6808										
RAB35	11021	broad.mit.edu	37	chr12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	agggcctcacctcttccacgTtgacattctccttggcgctg	9	15	3	1	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_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR	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		Somatic				RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR	p.N156S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	WXS	Illumina GAIIx	Phase_I	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	3	59	---	---	---	---	C	120536625	T	C	120536625	3	2	151	1	0	0	0	0	1	0	0	0	12925	1725	60	2	146	2	RAB35	12	120536625	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	68251630	120536625	13315270	24	6809										
FREM2	341640	broad.mit.edu	37	chr13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	cacagaccagttcacatttaGagtccaggataaccatgacc	7	12	1	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.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		Somatic					p.R673T	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	5	143	---	---	---	---	C	39263499	G	C	39263499	3	2	151	1	0	0	0	0	1	0	0	0	6045	942	33	4	2020	4	FREM2	13	39263499	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		39263499	75906379	25	6810										
FURIN	5045	broad.mit.edu	37	chr15	91422745	91422745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	gcctctgcccccttagcagcCggcatcattgctctcaccct	7	19	3	0	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			Somatic					p.A375A	NM_002569.2	NP_002560.1	WXS	Illumina GAIIx	Phase_I	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	17	120	---	---	---	---	T	91422745	C	T	91422745	2	4	151	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	26	6811										
CCL4L1	388372	broad.mit.edu	37	chr17	34641448	34641448	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	ctgtctgctccttgttctacAgattccaaaccaaaagaggc	7	12	2	2	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_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|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			Somatic				TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron				WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	G	34641448	A	G	34641448	5	3	151	1	0	0	0	0	0	0	1	0	2903	202	7	2	491	2	CCL4L1	17	34641448	Splice_Site	SNP	A	TCGA-G9-7523-01A-11D-2260-08		34641448	46553762	27	6812										
CDC6	990	broad.mit.edu	37	chr17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	ctggaaaaactgcctgcttaAgccggattctgcaagacctc	9	12	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.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		Somatic					p.S213G	NM_001254.3	NP_001245.1	WXS	Illumina GAIIx	Phase_I	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	9	102	---	---	---	---	G	38447897	A	G	38447897	3	3	151	1	0	0	0	0	1	0	0	0	3083	72	3	2	647	2	CDC6	17	38447897	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	3806449	38447897	42747313	28	6813										
CPAMD8	27151	broad.mit.edu	37	chr19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	aaagaaatcttaatgtacctGatgttgagacaatgccaaat	7	6	1	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		Somatic				CPAMD8_ENST00000388925.4_3'UTR	p.I805M	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	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	5	345	---	---	---	---	C	17068665	G	C	17068665	3	2	151	1	0	0	0	0	1	0	0	0	3795	1280	45	4	3479	4	CPAMD8	19	17068665	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		17068665	42060318	29	6814										
ATP9A	10079	broad.mit.edu	37	chr20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.61025641025641	6.97777777777778	0	0.1	1	0	tgctgacgtcattgcctccgTcccctgcgagccacacagac	9	17	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.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	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		Somatic				ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G|ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G	p.D785G	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	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	3	27	---	---	---	---	C	50234090	T	C	50234090	3	2	151	1	0	0	0	0	1	0	0	0	1198	1667	58	2	817	2	ATP9A	20	50234090	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08		50234090	12791430	30	6815										
EIF3I	56063	broad.mit.edu	37	chr1	32690027	32690027	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	tcaggggacaccaagcatgtCctcactggctcagctgacaa	10	13	3	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.chr1:32690027C>T	ENST00000344461.3	-	0	0				TMEM234_ENST00000309777.6_5'Flank|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000545122.1_5'Flank|TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Silent_p.V67V			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		Somatic				EIF3I_ENST00000471486.1_3'UTR	p.V67V	NM_003757.2	NP_003748.1	WXS	Illumina GAIIx	Phase_I	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	6	80	---	---	---	---	T	32690027	C	T	32690027	1	4	152	0	1	0	0	0	0	0	0	0	5019	842	30	2		2	EIF3I	1	32690027	5'Flank	SNP	C	TCGA-H9-7775-01A-11D-2114-08		32690027	216560594	1	6816										
FAM179A	165186	broad.mit.edu	37	chr2	29237325	29237325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gccaagaagcctgccctgccTttttctcagtctgctcccac	7	17	2	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.chr2:29237325T>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			Somatic				FAM179A_ENST00000403861.2_Silent_p.P314P	p.P314P	NM_199280.2	NP_954974.2	WXS	Illumina GAIIx	Phase_I	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	2	11	---	---	---	---	C	29237325	T	C	29237325	2	2	152	1	0	0	0	0	0	0	0	1	5505	1596	56	2		2	FAM179A	2	29237325	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		29237325	213962048	2	6817										
CCDC141	285025	broad.mit.edu	37	chr2	179702244	179702244	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gaggagctgacaggctcttcCacctccatgtcagatggtgc	12	12	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.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	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			Somatic				CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	p.V1234V	NM_173648.3	NP_775919.3	WXS	Illumina GAIIx	Phase_I	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	3	47	---	---	---	---	A	179702244	C	A	179702244	2	1	152	1	0	0	0	0	0	0	0	1	2775	581	21	1		1	CCDC141	2	179702244	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	150464919	179702244	63497129	3	6818										
STAT4	6775	broad.mit.edu	37	chr2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gcatgttggctgcagccaatAttctcctctcttcccttaaa	6	13	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.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		Somatic				STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	p.I115T	NM_003151.3	NP_003142.1	WXS	Illumina GAIIx	Phase_I	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	10	62	---	---	---	---	G	191940981	A	G	191940981	3	3	152	1	0	0	0	0	1	0	0	0	15266	449	16	2	1986	2	STAT4	2	191940981	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	12238737	191940981	51258392	4	6819										
RNF216	54476	broad.mit.edu	37	chr7	5780784	5780784	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	ggatgggcaggctgaggagaAgaggggcctgaaatcccacc	17	9	0	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.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			Somatic				RNF216_ENST00000389902.3_Silent_p.S288S	p.S231S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	WXS	Illumina GAIIx	Phase_I	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	18	77	---	---	---	---	C	5780784	A	C	5780784	2	2	152	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		5780784	153357879	5	6820										
DMTF1	9988	broad.mit.edu	37	chr7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-													0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	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_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_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)cataaaaggcttfs		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		Somatic				DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR	p.HKRL51fs	NM_021145.3	NP_066968.3	WXS	Illumina GAIIx	Phase_I	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	152	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	6	6821										
ARHGEF5	7984	broad.mit.edu	37	chr7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gtccagggggaggagcaggaGcactcggggaggacatatga	19	7	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.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		Somatic					p.S864N	NM_005435.3	NP_005426.2	WXS	Illumina GAIIx	Phase_I	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	4	123	---	---	---	---	A	144062353	G	A	144062353	3	1	152	1	0	0	0	0	1	0	0	0	909	971	34	2	2593	2	ARHGEF5	7	144062353	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	57266512	144062353	15076310	7	6822										
CSMD1	64478	broad.mit.edu	37	chr8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	cggcggctgaggacacagcaCggctatttccaaagaacaaa	11	11	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.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_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M			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		Somatic				CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M	p.V3096M			WXS	Illumina GAIIx	Phase_I	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	79	44	---	---	---	---	T	2820915	C	T	2820915	3	4	152	1	0	0	0	0	1	0	0	0	3944	536	19	2	1455	2	CSMD1	8	2820915	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		2820915	143543107	8	6823										
PAPPA	5069	broad.mit.edu	37	chr9	119065088	119065088	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gatggggtatgtgaggagttTgaacaaaaaaccagcattaa	12	4	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.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			Somatic				PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	p.F1002F	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	C	119065088	T	C	119065088	2	2	152	1	0	0	0	0	0	0	0	1	11432	1809	63	2		2	PAPPA	9	119065088	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		119065088	22148343	9	6824										
FAT3	120114	broad.mit.edu	37	chr11	92568223	92568223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	agtgcggttatcagtgaagaCgccttggtgggagactctgt	15	7	2	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.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)	Somatic				FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D	p.D3353D			WXS	Illumina GAIIx	Phase_I	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	4	19	---	---	---	---	T	92568223	C	T	92568223	2	4	152	1	0	0	0	0	0	0	0	1	5691	535	19	2		2	FAT3	11	92568223	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08		92568223	42438293	10	6825										
TCTN2	79867	broad.mit.edu	37	chr12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gttcagacggtcctgcttcaCcggcgtgtttggaggagacg	15	10	2	2	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		Somatic				TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	p.T204N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	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	54	78	---	---	---	---	A	124171429	C	A	124171429	3	1	152	1	0	0	0	0	1	0	0	0	15720	507	18	3	633	3	TCTN2	12	124171429	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		124171429	9680466	11	6826										
PAPLN	89932	broad.mit.edu	37	chr14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	agccacggccagctgaccggCgttcctgcaatcttcaccct	9	17	2	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.chr14:73719446C>T	ENST00000554301.1	+	10	1220	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000427855.1_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000381166.3_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		Somatic				PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C	p.R353C			WXS	Illumina GAIIx	Phase_I	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	50	99	---	---	---	---	T	73719446	C	T	73719446	3	4	152	1	0	0	0	0	1	0	0	0	11428	768	27	2	1010	2	PAPLN	14	73719446	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		73719446	33630094	12	6827										
KCNK10	54207	broad.mit.edu	37	chr14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gatgacagcagggatcgtcaCaaacacaatgcagccggcca	11	12	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.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_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		Somatic				KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	p.V248M	NM_021161.4	NP_066984.1	WXS	Illumina GAIIx	Phase_I	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	40	96	---	---	---	---	T	88658679	C	T	88658679	3	4	152	1	0	0	0	0	1	0	0	0	8059	478	17	2	886	2	KCNK10	14	88658679	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	14939233	88658679	18690861	13	6828										
ZZEF1	23140	broad.mit.edu	37	chr17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	cccactcggtgttgctcatgTcggaggtgaagcggtaatac	13	10	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.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		Somatic					p.D2782G	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	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	6	56	---	---	---	---	C	3917452	T	C	3917452	3	2	152	1	0	0	0	0	1	0	0	0	18252	1667	58	2	560	2	ZZEF1	17	3917452	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08		3917452	77277758	14	6829										
DNAH9	1770	broad.mit.edu	37	chr17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gaactccattaagatcaccaAtgagccccccacgggcatgc	8	15	1	2	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					ENST00000262442.4																			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		Somatic				DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron	p.N4016S	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				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	3	48	---	---	---	---	G	11833352	A	G	11833352	3	3	152	1	0	0	0	0	1	0	0	0	4608	101	4	2	12297	2	DNAH9	17	11833352	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	7915900	11833352	69361858	15	6830										
TRIM16	10626	broad.mit.edu	37	chr17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	aaatttgcaggcaaacttgtGaaccagagtcatggtatcat	9	7	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.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000579219.1_3'UTR			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		Somatic				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|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y	p.H520Y			WXS	Illumina GAIIx	Phase_I				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	24	37	---	---	---	---	A	15532066	G	A	15532066	3	1	152	1	0	0	0	0	1	0	0	0	16488	1290	45	2	140	2	TRIM16	17	15532066	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	3698714	15532066	65663144	16	6831										
APLP1	333	broad.mit.edu	37	chr19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	tgtggagtatgtgtgctgtcCccctccagggacccccgacc	12	15	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.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L|NPHS1_ENST00000591817.1_5'Flank	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	62	---	---	---	---	T	36362608	C	T	36362608	3	4	152	1	0	0	0	0	1	0	0	0	778	623	22	2	650	2	APLP1	19	36362608	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		36362608	22766375	17	6832										
DSCAM	1826	broad.mit.edu	37	chr21	41719856	41719856	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	ttaaccttcctgggactgatGgtggctttcagtggctctgg	13	9	2	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.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			Somatic					p.T317T	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina GAIIx	Phase_I	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	3	9	---	---	---	---	T	41719856	G	T	41719856	2	4	152	1	0	0	0	0	0	0	0	1	4768	1335	47	1		1	DSCAM	21	41719856	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		41719856	6410039	18	6833										
C21orf29	54084	broad.mit.edu	37	chr21	45953635	45953635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	ggacacagccaggaccagtgTgtgccagcggccatccacca	12	15	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		Somatic				TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	p.T159S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	WXS	Illumina GAIIx	Phase_I	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	15	31	---	---	---	---	A	45953635	T	A	45953635	3	1	152	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	19	6834										
SGSM3	27352	broad.mit.edu	37	chr22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gaactcggcctccatcttcaAcacgctatcggatatcccgt	7	15	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.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		Somatic				SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	p.N335S	NM_015705.4	NP_056520.2	WXS	Illumina GAIIx	Phase_I	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	5	36	---	---	---	---	G	40802485	A	G	40802485	3	3	152	1	0	0	0	0	1	0	0	0	14224	43	2	2	1038	2	SGSM3	22	40802485	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08		40802485	10502081	20	6835										
ATP6AP2	10159	broad.mit.edu	37	chrX	40457949	40457949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	1.03409090909091	NA	1.03409090909091	1	1	0	gaaggttgacctgctctttcTttctgaactgcaagtgctac	9	10	3	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.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P	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		Somatic				ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	p.L184P	NM_005765.2	NP_005756.2	WXS	Illumina GAIIx	Phase_I	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	33	24	---	---	---	---	C	40457949	T	C	40457949	3	2	152	1	0	0	0	0	1	0	0	0	1167	1609	56	2	573	2	ATP6AP2	23	40457949	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08		40457949	114812611	21	6836										
PRAMEF11	440560	broad.mit.edu	37	chr1	12884845	12884845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	aggtcataaaatgacctgtcGccatggtcagggcagttgtc	12	9	2	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.chr1:12884845G>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			Somatic					p.G422G	NM_001146344.1	NP_001139816.1	WXS	Illumina GAIIx	Phase_I	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	11	367	---	---	---	---	A	12884845	G	A	12884845	2	1	153	1	0	0	0	0	0	0	0	1	12427	1074	38	2		2	PRAMEF11	1	12884845	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08		12884845	236365776	1	6837										
VCAM1	7412	broad.mit.edu	37	chr1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gaatttctggaggatgcagaCaggaagtccctggaaaccaa	12	8	1	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_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E	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		Somatic				VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E	p.D169E	NM_001078.3	NP_001069.1	WXS	Illumina GAIIx	Phase_I	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	13	43	---	---	---	---	G	101188742	C	G	101188742	3	3	153	1	0	0	0	0	1	0	0	0	17134	477	17	4	517	4	VCAM1	1	101188742	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	88303897	101188742	148061879	2	6838										
GDAP2	54834	broad.mit.edu	37	chr1	118455305	118455305	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ttgcttcacctgttcggcacCctgaaaacaatggaaacaca	7	12	1	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.chr1:118455305C>A	ENST00000369443.5	-	4	566	c.317G>T	c.(316-318)gGg>gTg	p.G106V	GDAP2_ENST00000369442.3_Splice_Site_p.G106V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	106	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.		G -> S (in dbSNP:rs12753610).		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)		TGTTCGGCACCCTGAAAACAA	0.388																																						ENST00000369443.5																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(316-318)gGg>gTg		ganglioside induced differentiation associated protein 2							105	97	100					1																	118455305		2203	4300	6503	SO:0001630	splice_region_variant	54834							g.chr1:118455305C>A	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.317-1G>T	1.37:g.118455305C>A			Somatic				GDAP2_ENST00000369442.3_Splice_Site_p.G106V	p.G106V	NM_017686.3	NP_060156.1	WXS	Illumina GAIIx	Phase_I	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	4	566	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			G -> S (in dbSNP:rs12753610).	Macro.		Q96DZ0	Splice_Site	SNP	ENST00000369443.5	37	c.317G>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650960	0.87958	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.24350	1.86;1.86	5.9	5.9	0.94986	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	T	0.54912	-0.8222	10	0.72032	D	0.01	.	20.3298	0.98711	0.0:1.0:0.0:0.0	.	106;106	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	V	106	ENSP00000358451:G106V;ENSP00000358450:G106V	ENSP00000358450:G106V	G	-	2	0	GDAP2	118256828	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	7.804000	0.85993	2.810000	0.96702	0.585000	0.79938	GGG		0.388	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Missense_Mutation	4	76	4	76	---	---	---	---	A	118455305	C	A	118455305	5	1	153	1	0	0	0	0	0	0	1	0	6309	637	22	1	1265	1	GDAP2	1	118455305	Splice_Site	SNP	C	TCGA-HC-7075-01A-11D-1961-08	17266563	118455305	130795316	3	6839										
TNN	63923	broad.mit.edu	37	chr1	175054615	175054615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tggagggcaagccgatcctcCtgaatggcaggacaggtgag	16	9	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.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			Somatic					p.L437L	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	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	6	12	---	---	---	---	T	175054615	C	T	175054615	2	4	153	1	0	0	0	0	0	0	0	1	16320	680	24	2		2	TNN	1	175054615	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08	56599310	175054615	74196006	4	6840										
GTF3C2	2976	broad.mit.edu	37	chr2	27564920	27564920	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	acatcttcagcctcaacctgGagaaaaaagtcttcatcccg	6	13	5	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.chr2:27564920G>T	ENST00000359541.2	-	4	1179	c.750C>A	c.(748-750)ctC>ctA	p.L250L	AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	250					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|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)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAACCTGGAGAAAAAAGT	0.562																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(748-750)ctC>ctA		general transcription factor IIIC, polypeptide 2, beta 110kDa							83	74	77					2																	27564920		2203	4300	6503	SO:0001819	synonymous_variant	2976					transcription factor TFIIIC complex		g.chr2:27564920G>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.750C>A	2.37:g.27564920G>T			Somatic				GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000590383.1_RNA	p.L250L			WXS	Illumina GAIIx	Phase_I	Q8WUA4	TF3C2_HUMAN			4	1179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		250					D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	c.750C>A	CCDS1749.1																																																																																				0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			5	95	5	95	---	---	---	---	T	27564920	G	T	27564920	2	4	153	1	0	0	0	0	0	0	0	1	6873	1161	41	3		3	GTF3C2	2	27564920	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08		27564920	215634453	5	6841										
WDR54	84058	broad.mit.edu	37	chr2	74652599	74652599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ctggaagctgagcagaaaccCagagagtggctacattgagg	14	8	0	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.chr2:74652599C>A	ENST00000348227.4	+	9	942	c.854C>A	c.(853-855)cCa>cAa	p.P285Q	WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	285										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGAAACCCAGAGAGTGGC	0.602																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(853-855)cCa>cAa		WD repeat domain 54							86	87	87					2																	74652599		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652599C>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	ENST00000348227.4:c.854C>A	2.37:g.74652599C>A	ENSP00000006526:p.Pro285Gln		Somatic				WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR	p.P285Q	NM_032118.2	NP_115494.1	WXS	Illumina GAIIx	Phase_I	Q9H977	WDR54_HUMAN			9	942	+			285					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.854C>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.883091	0.33255	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	T	0.48201	0.82	4.61	3.73	0.42828	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.47716	1.5	0.46798	D	0.999203	P	0.38642	0.641	B	0.36030	0.216	T	0.09015	-1.0694	10	0.10111	T	0.7	-4.2672	9.8383	0.40982	0.0:0.9022:0.0:0.0978	.	285	Q9H977	WDR54_HUMAN	Q	233;285	ENSP00000006526:P285Q	ENSP00000006526:P285Q	P	+	2	0	WDR54	74506107	0.482000	0.25948	0.985000	0.45067	0.993000	0.82548	2.972000	0.49256	1.167000	0.42706	0.561000	0.74099	CCA		0.602	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		5	156	5	156	---	---	---	---	A	74652599	C	A	74652599	3	1	153	1	0	0	0	0	1	0	0	0	17303	594	21	1	884	1	WDR54	2	74652599	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	47087679	74652599	168546774	6	6842										
SUMO1	7341	broad.mit.edu	37	chr2	203071992	203071992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	atatctaaactgttgaatgaCcccccgtttgttcctgataa	6	10	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.chr2:203071992C>A	ENST00000392246.2	-	5	446	c.290G>T	c.(289-291)gGt>gTt	p.G97V	SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000409181.1_3'UTR|SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	97	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										TGTTGAATGACCCCCCGTTTG	0.303																																						ENST00000392246.2																			0											c.(289-291)gGt>gTt		small ubiquitin-like modifier 1							139	159	152					2																	203071992		2203	4298	6501	SO:0001583	missense	7341				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding	g.chr2:203071992C>A	U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"ubiquitin-like 1 (sentrin)", "SMT3 suppressor of mif two 3 homolog 1 (yeast)", "SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.290G>T	2.37:g.203071992C>A	ENSP00000376077:p.Gly97Val		Somatic				SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V|SUMO1_ENST00000409181.1_3'UTR	p.G97V	NM_003352.4	NP_003343.1	WXS	Illumina GAIIx	Phase_I	P63165	SUMO1_HUMAN			5	446	-			97			Ubiquitin-like.		A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Missense_Mutation	SNP	ENST00000392246.2	37	c.290G>T	CCDS2352.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835004	0.71373	.	.	ENSG00000116030	ENST00000392246;ENST00000392245;ENST00000409368;ENST00000392244;ENST00000409712;ENST00000409498;ENST00000409205	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.68;0.24;0.24;0.24;0.24	5.74	5.74	0.90152	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	H	0.95850	3.73	0.80722	D	1	D;B	0.60575	0.988;0.448	P;B	0.58970	0.849;0.315	D	0.87922	0.2704	10	0.87932	D	0	-15.2225	19.9219	0.97089	0.0:1.0:0.0:0.0	.	72;97	A8MUS8;P63165	.;SUMO1_HUMAN	V	97;97;142;72;73;58;58	ENSP00000376077:G97V;ENSP00000376076:G97V;ENSP00000387204:G142V;ENSP00000376075:G72V;ENSP00000386296:G73V;ENSP00000386472:G58V;ENSP00000386267:G58V	ENSP00000376075:G72V	G	-	2	0	SUMO1	202780237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.142000	0.77339	2.697000	0.92050	0.655000	0.94253	GGT		0.303	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256312.2	NM_003352		6	286	6	286	---	---	---	---	A	203071992	C	A	203071992	3	1	153	1	0	0	0	0	1	0	0	0	15384	507	18	3	19	3	SUMO1	2	203071992	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	128419393	203071992	40127381	7	6843										
SP110	3431	broad.mit.edu	37	chr2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	attggcttcatgaaaaccgaGcacgtctttgagatcttttt	8	8	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.chr2:231033887G>A	ENST00000358662.4	-	18	2101	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.L699F|AC009950.2_ENST00000595586.2_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		Somatic				AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.L675F	p.L699F	NM_080424.2	NP_536349	WXS	Illumina GAIIx	Phase_I	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	74	151	---	---	---	---	A	231033887	G	A	231033887	3	1	153	1	0	0	0	0	1	0	0	0	14961	971	34	2	50	2	SP110	2	231033887	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	27961895	231033887	12165486	8	6844										
CLASP2	23122	broad.mit.edu	37	chr3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gtttccttggacactctctcTatcacttttgtttgcatttt	5	10	3	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.chr3:33552113T>C	ENST00000468888.2	-	37	4324	c.4278A>G	c.(4276-4278)atA>atG	p.I1426M	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1425M			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		Somatic				CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000539981.1_3'UTR	p.I1425M	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	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	9	61	---	---	---	---	C	33552113	T	C	33552113	3	2	153	1	0	0	0	0	1	0	0	0	3455	1512	53	2	278	2	CLASP2	3	33552113	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		33552113	164470317	9	6845										
MYRIP	25924	broad.mit.edu	37	chr3	40211572	40211572	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	cctggaggctaccgtgctccCgctgccctctgggtgagtcc	13	16	1	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.chr3:40211572C>A	ENST00000302541.6	+	8	1203	c.861C>A	c.(859-861)ccC>ccA	p.P287P	MYRIP_ENST00000539167.1_Silent_p.P100P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000396217.3_Silent_p.P198P	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	287	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)		ACCGTGCTCCCGCTGCCCTCT	0.597																																						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.(859-861)ccC>ccA		myosin VIIA and Rab interacting protein							76	69	71					3																	40211572		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40211572C>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.861C>A	3.37:g.40211572C>A			Somatic				MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.P198P|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000539167.1_Silent_p.P100P	p.P287P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	WXS	Illumina GAIIx	Phase_I	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	8	1203	+			287			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.861C>A	CCDS2689.1																																																																																				0.597	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	88	4	88	---	---	---	---	A	40211572	C	A	40211572	2	1	153	1	0	0	0	0	0	0	0	1	10100	639	23	1		1	MYRIP	3	40211572	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08	6659459	40211572	157810858	10	6846										
SLC2A9	56606	broad.mit.edu	37	chr4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ggggagcacactgagggcgaCgcctgtagagagaaagcata	16	8	0	3	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		Somatic				SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I	p.V151I			WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	T	9982359	C	T	9982359	3	4	153	1	0	0	0	0	1	0	0	0	14552	536	19	2	1116	2	SLC2A9	4	9982359	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		9982359	181171917	11	6847										
MAML3	55534	broad.mit.edu	37	chr4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ctccttgctggactgttcccAtaaggctctgcagccttgga	10	13	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.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		Somatic				MGST2_ENST00000515137.1_Intron	p.M953K	NM_018717.4	NP_061187	WXS	Illumina GAIIx	Phase_I	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	55	79	---	---	---	---	T	140641036	A	T	140641036	3	4	153	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	12	6848										
DCHS2	54798	broad.mit.edu	37	chr4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ttgagtgaaaatgggctcaaAttcatctatcccttcaatat	6	8	4	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.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																																						ENST00000357232.4																			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		Somatic					p.F2421L	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7260	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	3	53	---	---	---	---	G	155157178	A	G	155157178	3	3	153	1	0	0	0	0	1	0	0	0	4288	101	4	2	1493	2	DCHS2	4	155157178	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	14516142	155157178	35997098	13	6849										
FSTL5	56884	broad.mit.edu	37	chr4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tgccaagttcttcctgttttAtcacctaacaagaaaattat	4	9	2	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.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_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		Somatic				FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_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	WXS	Illumina GAIIx	Phase_I	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	11	53	---	---	---	---	G	162680679	A	G	162680679	3	3	153	1	0	0	0	0	1	0	0	0	6080	449	16	2	1976	2	FSTL5	4	162680679	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	7523501	162680679	28473597	14	6850										
CLCN3	1182	broad.mit.edu	37	chr4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tggccattggagcgatcgcaGgaaggattgtggggattgcg	18	6	0	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.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	1182				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		Somatic				CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R	p.G538R	NM_001829.3	NP_001820.2	WXS	Illumina GAIIx	Phase_I	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	13	70	---	---	---	---	C	170625197	G	C	170625197	3	2	153	1	0	0	0	0	1	0	0	0	3464	1001	35	4	1646	4	CLCN3	4	170625197	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	7944518	170625197	20529079	15	6851										
HAPLN1	1404	broad.mit.edu	37	chr5	82940276	82940276	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccgggcactgtgttctgcccCccacagggctctctgggctt	12	16	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.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			Somatic					p.G227G	NM_001884.3	NP_001875.1	WXS	Illumina GAIIx	Phase_I	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	19	87	---	---	---	---	A	82940276	C	A	82940276	2	1	153	1	0	0	0	0	0	0	0	1	6954	610	22	1		1	HAPLN1	5	82940276	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		82940276	97974984	16	6852										
CLINT1	9685	broad.mit.edu	37	chr5	157218974	157218974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gttgaaggcactccagtcacCaaagtctccattcccacttg	7	14	2	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.chr5:157218974C>A	ENST00000411809.2	-	10	1321	c.1117G>T	c.(1117-1119)Ggt>Tgt	p.G373C	CLINT1_ENST00000523094.1_Missense_Mutation_p.G355C|CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	373					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)			CTCCAGTCACCAAAGTCTCCA	0.468																																					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.(1063-1065)Ggt>Tgt		clathrin interactor 1							77	80	79					5																	157218974		2043	4204	6247	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218974C>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.1117G>T	5.37:g.157218974C>A	ENSP00000388340:p.Gly373Cys		Somatic				CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000411809.2_Missense_Mutation_p.G373C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C	p.G355C	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	WXS	Illumina GAIIx	Phase_I	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1268	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	373					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1063G>T	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.801226|4.801226	0.90538|0.90538	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.52754|.	0.65;0.65;0.74;0.65;0.67|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71091|0.71091	0.3299|0.3299	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B|.	0.33135|.	0.399;0.233|.	B;B|.	0.27796|.	0.079;0.083|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|5	0.59425|.	D|.	0.04|.	-29.1061|-29.1061	20.051|20.051	0.97627|0.97627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	373;373|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	C|L	355;355;373;355;373|64	ENSP00000429345:G355C;ENSP00000433419:G355C;ENSP00000388340:G373C;ENSP00000296951:G355C;ENSP00000429824:G373C|.	ENSP00000296951:G355C|.	G|W	-|-	1|2	0|0	CLINT1|CLINT1	157151552|157151552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.343000|7.343000	0.79319|0.79319	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.468	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		4	71	4	71	---	---	---	---	A	157218974	C	A	157218974	3	1	153	1	0	0	0	0	1	0	0	0	3531	594	21	1	772	1	CLINT1	5	157218974	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	74278698	157218974	23696286	17	6853										
TMEM217	221468	broad.mit.edu	37	chr6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gccactgaacccactcgaaaTtgataatcttttatttctgc	5	11	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.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		Somatic				TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	p.I184V	NM_145316.3	NP_660359.2	WXS	Illumina GAIIx	Phase_I	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	4	113	---	---	---	---	C	37186257	T	C	37186257	3	2	153	1	0	0	0	0	1	0	0	0	16137	1493	52	2	151	2	TMEM217	6	37186257	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		37186257	133928810	18	6854										
PKHD1	5314	broad.mit.edu	37	chr6	51613252	51613252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gtgacagtataggcctgaccCtctaaatctatgccatggcc	9	12	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.chr6:51613252C>A	ENST00000371117.3	-	58	9437	c.9162G>T	c.(9160-9162)gaG>gaT	p.E3054D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3054					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)					AGGCCTGACCCTCTAAATCTA	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.(9160-9162)gaG>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							98	89	92					6																	51613252		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.chr6:51613252C>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.9162G>T	6.37:g.51613252C>A	ENSP00000360158:p.Glu3054Asp		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D	p.E3054D	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			58	9437	-	Lung NSC(77;0.0605)		3054					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9162G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539959	0.27563	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80214	-1.35;-1.3	5.86	1.13	0.20643	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.067410	0.64402	D	0.000011	T	0.58652	0.2137	L	0.42245	1.32	0.29806	N	0.832011	P;B;P	0.49447	0.807;0.424;0.924	B;B;P	0.49276	0.349;0.121;0.605	T	0.53920	-0.8370	10	0.23891	T	0.37	.	4.5504	0.12108	0.151:0.3813:0.0:0.4678	.	3054;3054;3054	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	D	3054	ENSP00000360158:E3054D;ENSP00000341097:E3054D	ENSP00000341097:E3054D	E	-	3	2	PKHD1	51721211	0.979000	0.34478	0.999000	0.59377	0.942000	0.58702	-0.040000	0.12104	0.120000	0.18254	0.655000	0.94253	GAG		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	95	4	95	---	---	---	---	A	51613252	C	A	51613252	3	1	153	1	0	0	0	0	1	0	0	0	11971	680	24	1	3141	1	PKHD1	6	51613252	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	14426995	51613252	119501815	19	6855										
PREP	5550	broad.mit.edu	37	chr6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gaagctctttggcaccatcaActttcatgaacttgattgtc	7	10	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.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		Somatic					p.V158G	NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	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	10	83	---	---	---	---	C	105821366	A	C	105821366	3	2	153	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	54208114	105821366	65293701	20	6856										
EGFR	1956	broad.mit.edu	37	chr7	55240710	55240710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccatcgccactgggatggtgGgggccctcctcttgctgctg	14	14	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.chr7:55240710G>T	ENST00000275493.2	+	17	2131	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	652					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)	TGGGATGGTGGGGGCCCTCCT	0.622		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.(1954-1956)Ggg>Tgg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92	81	85					7																	55240710		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.chr7:55240710G>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.1954G>T	7.37:g.55240710G>T	ENSP00000275493:p.Gly652Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W	p.G652W	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	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)		17	2131	+	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)		652					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1954G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055048	0.55325	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.78003	-1.13;-1.14;-1.13	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	M	0.87758	2.905	0.58432	D	0.999999	D;D	0.89917	1.0;0.988	D;D	0.80764	0.994;0.984	D	0.90403	0.4404	10	0.87932	D	0	.	13.2044	0.59787	0.0773:0.0:0.9227:0.0	.	607;652	Q504U8;P00533	.;EGFR_HUMAN	W	607;522;652;599;446	ENSP00000415559:G607W;ENSP00000275493:G652W;ENSP00000395243:G599W	ENSP00000275493:G652W	G	+	1	0	EGFR	55208204	1.000000	0.71417	0.334000	0.25495	0.205000	0.24178	9.412000	0.97347	1.375000	0.46248	0.655000	0.94253	GGG		0.622	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	106	5	106	---	---	---	---	T	55240710	G	T	55240710	3	4	153	1	0	0	0	0	1	0	0	0	4967	1232	43	1	2284	1	EGFR	7	55240710	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		55240710	103897953	21	6857										
ANK1	286	broad.mit.edu	37	chr8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccttgaagctgatgagttctTcccctgaaacagcaagagct	9	11	1	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.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_ENST00000265709.8_Missense_Mutation_p.E863A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000396942.1_Missense_Mutation_p.E822A	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		Somatic				ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	p.E822A			WXS	Illumina GAIIx	Phase_I	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	50	155	---	---	---	---	G	41557063	T	G	41557063	3	3	153	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	22	6858										
ZNF462	58499	broad.mit.edu	37	chr9	109736551	109736551	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ttgaccacatcgtgctgcacCgaggtaacctttctaacttg	8	12	1	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.chr9:109736551C>A	ENST00000277225.5	+	9	7118	c.6829C>A	c.(6829-6831)Cga>Aga	p.R2277R	ZNF462_ENST00000457913.1_Silent_p.R2337R|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2277				Missing (in Ref. 4; AK027866). {ECO:0000305}.	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						CGTGCTGCACCGAGGTAACCT	0.547																																						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.(6829-6831)Cga>Aga		zinc finger protein 462							277	266	270					9																	109736551		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109736551C>A	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.6829C>A	9.37:g.109736551C>A			Somatic				ZNF462_ENST00000457913.1_Silent_p.R2337R|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R	p.R2277R			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			9	7118	+			2277	Missing (in Ref. 4; AK027866).				Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6829C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184248	0.21870	.	.	ENSG00000148143	ENST00000427098	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	T	0.65048	0.2654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62310	-0.6881	4	.	.	.	.	13.3263	0.60461	0.2534:0.7466:0.0:0.0	.	.	.	.	Q	178	.	.	P	+	2	0	ZNF462	108776372	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.163000	0.50763	2.662000	0.90505	0.557000	0.71058	CCG		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	376	7	376	---	---	---	---	A	109736551	C	A	109736551	2	1	153	1	0	0	0	0	0	0	0	1	17923	644	23	1		1	ZNF462	9	109736551	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		109736551	31476880	23	6859										
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tgttgggccttgctttgctcTgcagtttggtattatttatg	11	6	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.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		Somatic				CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	p.C23S	NM_018590.3	NP_061060.3	WXS	Illumina GAIIx	Phase_I	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	5	84	---	---	---	---	A	43650664	T	A	43650664	3	1	153	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	24	6860										
WAPAL	23063	broad.mit.edu	37	chr10	88277723	88277723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccataaatgtggtctctcccCattttgtgctaagggtagtc	9	10	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.chr10:88277723C>A	ENST00000298767.5	-	2	576	c.104G>T	c.(103-105)tGg>tTg	p.W35L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	35	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						GGTCTCTCCCCATTTTGTGCT	0.403																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(103-105)tGg>tTg		wings apart-like homolog (Drosophila)							85	82	83					10																	88277723		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.chr10:88277723C>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.104G>T	10.37:g.88277723C>A	ENSP00000298767:p.Trp35Leu		Somatic					p.W35L	NM_015045.2	NP_055860.1	WXS	Illumina GAIIx	Phase_I	Q7Z5K2	WAPL_HUMAN			2	576	-			35			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.104G>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877830	0.91664	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.44482	0.92	5.41	5.41	0.78517	.	0.077721	0.56097	D	0.000028	T	0.63319	0.2501	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.87578	0.998;0.991;0.991;0.997	T	0.63616	-0.6597	10	0.56958	D	0.05	.	19.1959	0.93689	0.0:1.0:0.0:0.0	.	120;35;35;78	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	L	120;35;120	ENSP00000298767:W35L	ENSP00000298767:W35L	W	-	2	0	WAPAL	88267703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.758000	0.68776	2.549000	0.85964	0.650000	0.86243	TGG		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		4	77	4	77	---	---	---	---	A	88277723	C	A	88277723	3	1	153	1	0	0	0	0	1	0	0	0	17245	595	21	1	3540	1	WAPAL	10	88277723	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	44627059	88277723	47257024	25	6861										
CPXM2	119587	broad.mit.edu	37	chr10	125528213	125528213	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	acctcattgccgtgggccccCgcgatgtagtggaactcggg	14	13	1	0	rs550032711	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.chr10:125528213C>A	ENST00000241305.3	-	9	1282	c.1128G>T	c.(1126-1128)gcG>gcT	p.A376A	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	376					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)		CGTGGGCCCCCGCGATGTAGT	0.582																																						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.(1126-1128)gcG>gcT		carboxypeptidase X (M14 family), member 2							71	74	73					10																	125528213		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528213C>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.1128G>T	10.37:g.125528213C>A			Somatic				CPXM2_ENST00000368854.3_5'UTR	p.A376A	NM_198148.2	NP_937791.2	WXS	Illumina GAIIx	Phase_I	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1282	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	376					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1128G>T	CCDS7637.1																																																																																				0.582	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		4	143	4	143	---	---	---	---	A	125528213	C	A	125528213	2	1	153	1	0	0	0	0	0	0	0	1	3838	639	23	1		1	CPXM2	10	125528213	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08	37250490	125528213	10006534	26	6862										
FAM53B	9679	broad.mit.edu	37	chr10	126370648	126370648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	cgctgcccccgctgtagcagCgtctcttttccacgggagtc	11	16	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.chr10:126370648C>A	ENST00000337318.3	-	4	645	c.434G>T	c.(433-435)cGc>cTc	p.R145L	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L|FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	145										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)		GCTGTAGCAGCGTCTCTTTTC	0.617																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(433-435)cGc>cTc		family with sequence similarity 53, member B							28	28	28					10																	126370648		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126370648C>A	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.434G>T	10.37:g.126370648C>A	ENSP00000338532:p.Arg145Leu		Somatic				FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L	p.R145L	NM_014661.3	NP_055476.3	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	645	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	145					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.434G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153390	0.94645	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.54279	0.58;0.58;0.58	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.75615	2.305	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.55615	0.78;0.78;0.78	T	0.72830	-0.4174	10	0.72032	D	0.01	-7.2971	18.8174	0.92081	0.0:1.0:0.0:0.0	.	145;145;145	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	L	145	ENSP00000338532:R145L;ENSP00000376509:R145L;ENSP00000280780:R145L	ENSP00000280780:R145L	R	-	2	0	FAM53B	126360638	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	7.598000	0.82745	2.746000	0.94184	0.655000	0.94253	CGC		0.617	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	43	3	43	---	---	---	---	A	126370648	C	A	126370648	3	1	153	1	0	0	0	0	1	0	0	0	5580	768	27	3	842	3	FAM53B	10	126370648	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	842435	126370648	9164099	27	6863										
NLRP14	338323	broad.mit.edu	37	chr11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tgagtagtttgctgaggaaaGtgatgctccctgaggcatcc	13	8	0	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.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		Somatic					p.V296L	NM_176822.3	NP_789792.1	WXS	Illumina GAIIx	Phase_I	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	13	53	---	---	---	---	T	7064143	G	T	7064143	3	4	153	1	0	0	0	0	1	0	0	0	10476	1029	36	3	896	3	NLRP14	11	7064143	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		7064143	127942373	28	6864										
CD3G	917	broad.mit.edu	37	chr11	118223127	118223127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tgtcctttccagcccctcaaGgatcgagaagatgaccagta	9	12	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.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			Somatic				CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	p.K164K	NM_000073.2	NP_000064.1	WXS	Illumina GAIIx	Phase_I	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	74	118	---	---	---	---	A	118223127	G	A	118223127	2	1	153	1	0	0	0	0	0	0	0	1	3013	991	35	2		2	CD3G	11	118223127	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08	111158984	118223127	16783389	29	6865										
SLC38A4	55089	broad.mit.edu	37	chr12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	cgtttgggaaataacagtgtGatcactgatgtacgaatctt	10	6	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.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		Somatic				SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	p.I439M	NM_001143824.1	NP_001137296.1	WXS	Illumina GAIIx	Phase_I	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	12	60	---	---	---	---	C	47163194	G	C	47163194	3	2	153	1	0	0	0	0	1	0	0	0	14606	1280	45	4	338	4	SLC38A4	12	47163194	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		47163194	86688701	30	6866										
CFL2	1073	broad.mit.edu	37	chr14	35182678	35182678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	aagagaactgctttctttctCtttttgatctcctcttgtgt	6	9	4	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.chr14:35182678C>A	ENST00000341223.3	-	2	244	c.93G>T	c.(91-93)aaG>aaT	p.K31N	CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	31	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTTTCTTTCTCTTTTTGATCT	0.353																																						ENST00000341223.3																			0				breast(3)|endometrium(2)|lung(3)	8						c.(91-93)aaG>aaT		cofilin 2 (muscle)							93	88	90					14																	35182678		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182678C>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"nemaline myopathy type 7"	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.93G>T	14.37:g.35182678C>A	ENSP00000340635:p.Lys31Asn		Somatic				CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N	p.K31N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	WXS	Illumina GAIIx	Phase_I	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	244	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		31			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.93G>T	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684502	0.47991	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	6.17	3.87	0.44632	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	H	0.94462	3.54	0.80722	D	1	P	0.34724	0.465	B	0.43331	0.416	D	0.87330	0.2324	10	0.87932	D	0	-10.0003	8.3245	0.32149	0.0:0.2141:0.0:0.7859	.	31	Q9Y281	COF2_HUMAN	N	31;31;14;14	ENSP00000340635:K31N;ENSP00000298159:K31N;ENSP00000452451:K14N;ENSP00000452188:K14N	ENSP00000298159:K31N	K	-	3	2	CFL2	34252429	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.154000	0.50693	0.585000	0.29608	-0.302000	0.09304	AAG		0.353	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		4	57	4	57	---	---	---	---	A	35182678	C	A	35182678	3	1	153	1	0	0	0	0	1	0	0	0	3291	912	32	3	419	3	CFL2	14	35182678	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		35182678	72166862	31	6867										
RTL1	388015	broad.mit.edu	37	chr14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ttgcatcctggcacccacagGttcccaaggcgcggtggagg	14	13	0	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.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_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		Somatic					p.P618S	NM_001134888.2	NP_001128360.1	WXS	Illumina GAIIx	Phase_I	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	6	40	---	---	---	---	A	101349274	G	A	101349274	3	1	153	1	0	0	0	0	1	0	0	0	13724	1261	44	2	2228	2	RTL1	14	101349274	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	66166596	101349274	6000266	32	6868										
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843703	16843703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ctggcaggagcagggatcccCcctcttcttgaggaagcagg	14	12	2	1	rs150101848	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.chr17:16843703C>A	ENST00000261652.2	-	4	580	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.G144W|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	190					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						CAGGGATCCCCCCTCTTCTTG	0.647									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(430-432)Ggg>Tgg		tumor necrosis factor receptor superfamily, member 13B							79	80	80					17																	16843703		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.chr17:16843703C>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.568G>T	17.37:g.16843703C>A	ENSP00000261652:p.Gly190Trp		Somatic				TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G190W|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W	p.G144W			WXS	Illumina GAIIx	Phase_I	O14836	TR13B_HUMAN			3	438	-			190					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.430G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	0.101	-1.152368	0.01700	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.98345	-4.88;-4.82	3.43	1.24	0.21308	.	0.118551	0.37393	N	0.002104	D	0.96116	0.8734	M	0.72894	2.215	0.27498	N	0.952074	B;B	0.33748	0.385;0.423	B;B	0.32583	0.148;0.124	D	0.92330	0.5873	10	0.72032	D	0.01	-11.9938	6.1086	0.20087	0.216:0.5743:0.2097:0.0	.	144;190	O14836-2;O14836	.;TR13B_HUMAN	W	144;190	ENSP00000413453:G144W;ENSP00000261652:G190W	ENSP00000261652:G190W	G	-	1	0	TNFRSF13B	16784428	0.647000	0.27304	0.084000	0.20598	0.018000	0.09664	1.750000	0.38329	0.076000	0.16826	-1.116000	0.02052	GGG		0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			4	97	4	97	---	---	---	---	A	16843703	C	A	16843703	3	1	153	1	0	0	0	0	1	0	0	0	16284	623	22	1	321	1	TNFRSF13B	17	16843703	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		16843703	64351507	33	6869										
TUBG1	7283	broad.mit.edu	37	chr17	40766928	40766928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	aggccttcctggagcagttcCgcaaggaggacatgttcaag	13	10	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.chr17:40766928C>A	ENST00000251413.3	+	11	1287	c.1225C>A	c.(1225-1227)Cgc>Agc	p.R409S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	409					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGAGCAGTTCCGCAAGGAGGA	0.537																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1225-1227)Cgc>Agc		tubulin, gamma 1							138	136	137					17																	40766928		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766928C>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1225C>A	17.37:g.40766928C>A	ENSP00000251413:p.Arg409Ser		Somatic					p.R409S	NM_001070.4	NP_001061.2	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1287	+		Breast(137;0.00116)	409					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1225C>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160748	0.57368	.	.	ENSG00000131462	ENST00000251413	D	0.83914	-1.78	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81004	0.4733	M	0.73753	2.245	0.80722	D	1	P	0.46706	0.883	B	0.32289	0.143	D	0.85786	0.1364	10	0.87932	D	0	-13.5354	18.361	0.90374	0.0:1.0:0.0:0.0	.	409	P23258	TBG1_HUMAN	S	409	ENSP00000251413:R409S	ENSP00000251413:R409S	R	+	1	0	TUBG1	38020454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.927000	0.70080	2.339000	0.79563	0.563000	0.77884	CGC		0.537	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		5	157	5	157	---	---	---	---	A	40766928	C	A	40766928	3	1	153	1	0	0	0	0	1	0	0	0	16761	652	23	1	1267	1	TUBG1	17	40766928	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	23923225	40766928	40428282	34	6870										
CSHL1	1444	broad.mit.edu	37	chr17	61988132	61988132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccaagagcttataaactcctGgtaggtgtcaatggccagct	10	10	1	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.chr17:61988132G>T	ENST00000309894.5	-	2	162	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	55						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ATAAACTCCTGGTAGGTGTCA	0.557																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(163-165)Cag>Aag		chorionic somatomammotropin hormone-like 1							108	116	113					17																	61988132		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988132G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.163C>A	17.37:g.61988132G>T	ENSP00000309524:p.Gln55Lys		Somatic				CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	p.Q55K			WXS	Illumina GAIIx	Phase_I	Q14406	CSHL_HUMAN			2	224	-			55					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.163C>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	9.469	1.095247	0.20471	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D	0.87966	-2.32;-2.32	2.84	1.73	0.24493	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.365132	0.30419	N	0.009673	D	0.86260	0.5890	L	0.52266	1.64	0.20638	N	0.999879	P;P;P	0.48911	0.843;0.813;0.917	D;P;P	0.64506	0.926;0.51;0.615	T	0.74965	-0.3484	10	0.05721	T	0.95	.	5.8624	0.18757	0.0:0.0:0.2991:0.7009	.	55;55;55	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	K	55	ENSP00000309524:Q55K;ENSP00000376569:Q55K	ENSP00000259003:Q55K	Q	-	1	0	GH1	59341864	1.000000	0.71417	0.996000	0.52242	0.030000	0.12068	1.603000	0.36794	0.317000	0.23160	0.305000	0.20034	CAG		0.557	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		6	267	6	267	---	---	---	---	T	61988132	G	T	61988132	3	4	153	1	0	0	0	0	1	0	0	0	3942	1357	47	1	521	1	CSHL1	17	61988132	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	21221204	61988132	19207078	35	6871										
SERPINB7	8710	broad.mit.edu	37	chr18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	accacccattcctatttgttAtcaggaaggatgacatcatc	6	11	2	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.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		Somatic				SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	p.I365F	NM_003784.3	NP_003775.1	WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	T	61471819	A	T	61471819	3	4	153	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	36	6872										
MAP1S	55201	broad.mit.edu	37	chr19	17831813	17831813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	agctcaaggtctttgtgtccCgacactctgccaccttctcc	7	16	4	0	rs7255978		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.chr19:17831813C>A	ENST00000324096.4	+	2	338	c.187C>A	c.(187-189)Cga>Aga	p.R63R	MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	63	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						CTTTGTGTCCCGACACTCTGC	0.577																																						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.(187-189)Cga>Aga		microtubule-associated protein 1S							136	117	124					19																	17831813		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.chr19:17831813C>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.187C>A	19.37:g.17831813C>A			Somatic				MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron	p.R63R	NM_018174.4	NP_060644.4	WXS	Illumina GAIIx	Phase_I	Q66K74	MAP1S_HUMAN			2	338	+			63			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.187C>A	CCDS32954.1																																																																																				0.577	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		4	151	4	151	---	---	---	---	A	17831813	C	A	17831813	2	1	153	1	0	0	0	0	0	0	0	1	9234	644	23	1		1	MAP1S	19	17831813	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		17831813	41297170	37	6873										
GPATCH1	55094	broad.mit.edu	37	chr19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccgggcggccctgctgtacgCatcttcccattcgaccttgt	10	16	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.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		Somatic					p.A559G	NM_018025.2	NP_060495.2	WXS	Illumina GAIIx	Phase_I	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	3	119	---	---	---	---	G	33602720	C	G	33602720	3	3	153	1	0	0	0	0	1	0	0	0	6590	710	25	4	1722	4	GPATCH1	19	33602720	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	15770907	33602720	25526263	38	6874										
GZF1	64412	broad.mit.edu	37	chr20	23345560	23345560	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	cccagtggtctcacggattcCttggactacccaggagagag	12	12	1	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.chr20:23345560C>A	ENST00000338121.5	+	2	617	c.540C>A	c.(538-540)tcC>tcA	p.S180S	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.S180S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	180					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)					TCACGGATTCCTTGGACTACC	0.552																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(538-540)tcC>tcA		GDNF-inducible zinc finger protein 1							50	51	51					20																	23345560		2203	4300	6503	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345560C>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.540C>A	20.37:g.23345560C>A			Somatic				GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.S180S	p.S180S			WXS	Illumina GAIIx	Phase_I	Q9H116	GZF1_HUMAN			2	617	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		180					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.540C>A	CCDS13151.1																																																																																				0.552	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		4	74	4	74	---	---	---	---	A	23345560	C	A	23345560	2	1	153	1	0	0	0	0	0	0	0	1	6914	668	24	1		1	GZF1	20	23345560	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		23345560	39679960	39	6875										
ALG12	79087	broad.mit.edu	37	chr22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	ccagctttgtctgcaggtggAcgttgaaggggggcagttgg	18	7	1	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.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																																						ENST00000330817.6																			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		Somatic				CITF22-1A6.3_ENST00000610245.1_lincRNA	p.V472A	NM_024105.3	NP_077010.1	WXS	Illumina GAIIx	Phase_I	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)						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	3	114	---	---	---	---	G	50297538	A	G	50297538	3	3	153	1	0	0	0	0	1	0	0	0	514	275	10	2	55	2	ALG12	22	50297538	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08		50297538	1007028	40	6876										
CTPS2	56474	broad.mit.edu	37	chrX	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	tgatccctttaccaatgcctGagatgaccccacccgtgacc	7	16	0	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.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*		Somatic				CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	p.S12*	NM_001144002.1	NP_001137474.1	WXS	Illumina GAIIx	Phase_I	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	5	72	---	---	---	---	T	16720991	G	T	16720991	4	4	153	1	0	0	0	0	0	1	0	0	4023	1294	45	3	1793	3	CTPS2	23	16720991	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		16720991	138549569	41	6877										
ZNF630	57232	broad.mit.edu	37	chrX	47919356	47919356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	gcaccgattgaacattttccCaaatgcactgtacttggaac	7	11	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.chrX:47919356C>A	ENST00000409324.3	-	5	701	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W|ZNF630_ENST00000276054.4_Missense_Mutation_p.G35W|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	159					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)|large_intestine(6)|lung(11)|ovary(1)	19						AACATTTTCCCAAATGCACTG	0.388																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(103-105)Ggg>Tgg		zinc finger protein 630							89	71	77					X																	47919356		2195	4290	6485	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47919356C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"Zinc fingers, C2H2-type", "-"	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.475G>T	X.37:g.47919356C>A	ENSP00000386393:p.Gly159Trp		Somatic				ZNF630_ENST00000409324.3_Missense_Mutation_p.G159W|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W	p.G35W			WXS	Illumina GAIIx	Phase_I	Q2M218	ZN630_HUMAN			5	1037	-			159			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.103G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582784	0.28268	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686;ENST00000421903	T;T;T;T	0.08984	3.03;3.05;3.1;5.01	2.18	2.18	0.27775	.	.	.	.	.	T	0.20292	0.0488	L	0.52126	1.63	0.30537	N	0.766791	D	0.89917	1.0	D	0.81914	0.995	T	0.03413	-1.1039	9	0.87932	D	0	.	9.5854	0.39512	0.0:1.0:0.0:0.0	.	159	Q2M218	ZN630_HUMAN	W	145;35;159;159;35	ENSP00000393163:G145W;ENSP00000354683:G35W;ENSP00000386393:G159W;ENSP00000407278:G159W	ENSP00000354683:G35W	G	-	1	0	ZNF630	47804300	0.640000	0.27243	0.105000	0.21289	0.151000	0.21798	0.721000	0.25911	1.116000	0.41820	0.422000	0.28245	GGG		0.388	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		3	29	3	29	---	---	---	---	A	47919356	C	A	47919356	3	1	153	1	0	0	0	0	1	0	0	0	18051	594	21	1	1502	1	ZNF630	23	47919356	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	31198365	47919356	107351204	42	6878										
DACH2	117154	broad.mit.edu	37	chrX	86068206	86068206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0232558139534884	1	1	0.668883961566888	1.83943089430894	0	1	1	0	acaagaaaagaaggagctgcGactggagctctatagagaga	13	6	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.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		Somatic				DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	p.R475Q	NM_001139514.1	NP_001132986.1	WXS	Illumina GAIIx	Phase_I	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	9	4	---	---	---	---	A	86068206	G	A	86068206	3	1	153	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	38148850	86068206	69202354	43	6879										
HSPG2	3339	broad.mit.edu	37	chr1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ctggcacctgcaggtgggcaAaggctttgaccttgccctgg	14	12	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.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		Somatic					p.F3653S	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	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	6	72	---	---	---	---	G	22159980	A	G	22159980	3	3	154	1	0	0	0	0	1	0	0	0	7430	14	1	2	2293	2	HSPG2	1	22159980	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08		22159980	227090641	1	6880										
RPA2	6118	broad.mit.edu	37	chr1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cccccggggactgcgtgtagCcgccggctcccccgtatgag	14	17	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.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		Somatic				RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	p.G19D	NM_002946.3	NP_002937.1	WXS	Illumina GAIIx	Phase_I	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	5	63	---	---	---	---	T	28240635	C	T	28240635	3	4	154	1	0	0	0	0	1	0	0	0	13537	739	26	2	788	2	RPA2	1	28240635	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	6080655	28240635	221009986	2	6881										
LRRC41	10489	broad.mit.edu	37	chr1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-													0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	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)ccafs		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		Somatic				LRRC41_ENST00000472710.1_5'UTR	p.P471fs	NM_006369.4	NP_006360.3	WXS	Illumina GAIIx	Phase_I	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	154	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	18510482	46751117	202499504	3	6882										
FLG	2312	broad.mit.edu	37	chr1	152281161	152281161	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tctttgtggctctgctgatgGggcccagcttttccctgtgc	12	12	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.chr1:152281161G>T	ENST00000368799.1	-	3	6236	c.6201C>A	c.(6199-6201)ccC>ccA	p.P2067P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	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)			TCTGCTGATGGGGCCCAGCTT	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.(6199-6201)ccC>ccA		filaggrin							362	294	317					1																	152281161		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.chr1:152281161G>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.6201C>A	1.37:g.152281161G>T			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.P2067P	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6236	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2067			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6201C>A	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	868	8	868	---	---	---	---	T	152281161	G	T	152281161	2	4	154	1	0	0	0	0	0	0	0	1	5922	1219	43	1		1	FLG	1	152281161	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	105530044	152281161	96969460	4	6883										
HMCN1	83872	broad.mit.edu	37	chr1	185987441	185987441	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tatcggtgcatggcagcaaaTactgctggagaccacaagaa	11	9	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.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			Somatic				HMCN1_ENST00000367492.2_Silent_p.N1809N	p.N1809N	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	32	92	---	---	---	---	C	185987441	T	C	185987441	2	2	154	1	0	0	0	0	0	0	0	1	7220	1403	49	2		2	HMCN1	1	185987441	Silent	SNP	T	TCGA-HC-7077-01A-11D-1961-08	33706280	185987441	63263180	5	6884										
CENPF	1063	broad.mit.edu	37	chr1	214819712	214819712	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tgcttcagaatcagttaaagGagctaaatgaggcagtagca	11	6	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.chr1:214819712G>T	ENST00000366955.3	+	13	6967	c.6799G>T	c.(6799-6801)Gag>Tag	p.E2267*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2363	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)		TCAGTTAAAGGAGCTAAATGA	0.423																																					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.(6799-6801)Gag>Tag		centromere protein F, 350/400kDa							93	100	98					1																	214819712		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.chr1:214819712G>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.6799G>T	1.37:g.214819712G>T	ENSP00000355922:p.Glu2267*		Somatic					p.E2267*	NM_016343.3	NP_057427.3	WXS	Illumina GAIIx	Phase_I	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	6967	+			2363			2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.6799G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	47	13.809848	0.99764	.	.	ENSG00000117724	ENST00000366955	.	.	.	4.67	4.67	0.58626	.	0.000000	0.36703	N	0.002449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	14.6162	0.68549	0.0:0.1463:0.8536:0.0	.	.	.	.	X	2267	.	ENSP00000355922:E2267X	E	+	1	0	CENPF	212886335	0.110000	0.22057	0.406000	0.26421	0.101000	0.19017	1.104000	0.31074	2.570000	0.86706	0.514000	0.50259	GAG		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		5	118	5	118	---	---	---	---	T	214819712	G	T	214819712	4	4	154	1	0	0	0	0	0	1	0	0	3231	1175	41	3	6845	3	CENPF	1	214819712	Nonsense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	28832271	214819712	34430909	6	6885										
NCOA1	8648	broad.mit.edu	37	chr2	24952626	24952626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gcaaactctaaacagacctcCggctgcacctaaccagcttc	6	16	1	1	rs376056992		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.chr2:24952626C>A	ENST00000406961.1	+	17	3795	c.3143C>A	c.(3142-3144)cCg>cAg	p.P1048Q	NCOA1_ENST00000288599.5_Missense_Mutation_p.P1048Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P897Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1048Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1048					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGACCTCCGGCTGCACCT	0.488			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3142-3144)cCg>cAg		nuclear receptor coactivator 1							103	103	103					2																	24952626		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24952626C>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3143C>A	2.37:g.24952626C>A	ENSP00000385216:p.Pro1048Gln		Somatic				NCOA1_ENST00000395856.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1048Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P897Q	p.P1048Q			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			18	3854	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1048					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.3143C>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992764	0.54041	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.51	5.51	0.81932	.	0.244816	0.41938	D	0.000798	T	0.37376	0.1001	N	0.05230	-0.09	0.45946	D	0.998778	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;P;D;D	0.69142	0.935;0.862;0.962;0.916	T	0.16335	-1.0406	10	0.10636	T	0.68	.	12.7234	0.57154	0.0:0.924:0.0:0.076	.	1048;1048;1048;897	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	Q	1048;1048;897;1048;1048;1048;1048	ENSP00000385216:P1048Q;ENSP00000385097:P1048Q;ENSP00000385195:P897Q;ENSP00000444039:P1048Q;ENSP00000320940:P1048Q;ENSP00000288599:P1048Q;ENSP00000379197:P1048Q	ENSP00000288599:P1048Q	P	+	2	0	NCOA1	24806130	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.593000	0.54001	2.775000	0.95449	0.585000	0.79938	CCG		0.488	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	150	4	150	---	---	---	---	A	24952626	C	A	24952626	3	1	154	1	0	0	0	0	1	0	0	0	10228	652	23	1	3193	1	NCOA1	2	24952626	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		24952626	218246747	7	6886										
SP140	11262	broad.mit.edu	37	chr2	231155227	231155227	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tttaaggctcctttgcttccAgtgacctgtggtggggtgaa	13	8	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.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000343805.6_Silent_p.P531P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000417495.3_Silent_p.P477P	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			Somatic				SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P	p.P591P	NM_007237.4	NP_009168.4	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	G	231155227	A	G	231155227	2	3	154	1	0	0	0	0	0	0	0	1	14962	175	7	2		2	SP140	2	231155227	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	206202601	231155227	12044146	8	6887										
CXCR7	57007	broad.mit.edu	37	chr2	237489567	237489567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	acctacttcaccaacaccccCagcagcaggaagaagatggt	8	14	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.chr2:237489567C>A	ENST00000272928.3	+	2	769	c.459C>A	c.(457-459)ccC>ccA	p.P153P		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	153					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)										CCAACACCCCCAGCAGCAGGA	0.562																																						ENST00000272928.3																			0											c.(457-459)ccC>ccA		atypical chemokine receptor 3							208	177	187					2																	237489567		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489567C>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.459C>A	2.37:g.237489567C>A			Somatic					p.P153P	NM_020311.2	NP_064707.1	WXS	Illumina GAIIx	Phase_I					2	769	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.459C>A	CCDS2516.1																																																																																				0.562	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		5	190	5	190	---	---	---	---	A	237489567	C	A	237489567	2	1	154	1	0	0	0	0	0	0	0	1	4096	581	21	1		1	CXCR7	2	237489567	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	6334340	237489567	5709806	9	6888										
NUP210	23225	broad.mit.edu	37	chr3	13370362	13370362	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	agtgaaggtcacggtcattcCcaaaggcacggccaccaggg	13	12	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.chr3:13370362C>A	ENST00000254508.5	-	31	4277	c.4195G>T	c.(4195-4197)Gga>Tga	p.G1399*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1399					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)					ACGGTCATTCCCAAAGGCACG	0.537																																						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.(4195-4197)Gga>Tga		nucleoporin 210kDa							124	112	116					3																	13370362		2203	4300	6503	SO:0001587	stop_gained	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.chr3:13370362C>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.4195G>T	3.37:g.13370362C>A	ENSP00000254508:p.Gly1399*		Somatic					p.G1399*	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	Q8TEM1	PO210_HUMAN			31	4277	-	all_neural(104;0.187)		1399					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	ENST00000254508.5	37	c.4195G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	43	9.912813	0.99294	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.8219	19.5739	0.95434	0.0:1.0:0.0:0.0	.	.	.	.	X	1399	.	ENSP00000254508:G1399X	G	-	1	0	NUP210	13345362	1.000000	0.71417	0.994000	0.49952	0.407000	0.30961	7.755000	0.85180	2.691000	0.91804	0.563000	0.77884	GGA		0.537	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		5	83	5	83	---	---	---	---	A	13370362	C	A	13370362	4	1	154	1	0	0	0	0	0	1	0	0	10760	632	22	1	1508	1	NUP210	3	13370362	Nonsense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		13370362	184652068	10	6889										
GRIP2	80852	broad.mit.edu	37	chr3	14536380	14536380	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cctgtcgaagggctggaggcCtccacggtgggctggcccat	16	13	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	12	43	---	---	---	---	T	14536380	C	T	14536380	1	4	154	0	1	0	0	0	0	0	0	0	6788	681	24	2		2	GRIP2	3	14536380	RNA	SNP	C	TCGA-HC-7077-01A-11D-1961-08	1166018	14536380	183486050	11	6890										
FGD5	152273	broad.mit.edu	37	chr3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	aatgatggctacgtggacatGagcagcttcaacgcctttga	11	9	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.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		Somatic				FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	p.M823I	NM_152536.3	NP_689749.3	WXS	Illumina GAIIx	Phase_I	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	8	65	---	---	---	---	A	14863047	G	A	14863047	3	1	154	1	0	0	0	0	1	0	0	0	5836	1290	45	2	2471	2	FGD5	3	14863047	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	326667	14863047	183159383	12	6891										
C3orf38	285237	broad.mit.edu	37	chr3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tcgtcgcctaggagaagaatTctgtcattggttctttggac	11	8	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.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		Somatic				C3orf38_ENST00000486971.1_Intron	p.F145S	NM_173824.3	NP_776185.2	WXS	Illumina GAIIx	Phase_I	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	17	24	---	---	---	---	C	88205229	T	C	88205229	3	2	154	1	0	0	0	0	1	0	0	0	2228	1783	62	2	444	2	C3orf38	3	88205229	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	73342182	88205229	109817201	13	6892										
PARP9	83666	broad.mit.edu	37	chr3	122259686	122259686	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ttttctcttttctcctctctGgttgactgggggactgaaat	9	9	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.chr3:122259686G>C	ENST00000360356.2	-	8	1730	c.1503C>G	c.(1501-1503)acC>acG	p.T501T	PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000462315.1_Silent_p.T466T|PARP9_ENST00000492382.1_Silent_p.T46T	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			Somatic				PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	p.T466T	NM_001146106.1	NP_001139578.1	WXS	Illumina GAIIx	Phase_I	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	17	161	---	---	---	---	C	122259686	G	C	122259686	2	2	154	1	0	0	0	0	0	0	0	1	11466	1335	47	4		4	PARP9	3	122259686	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	34054457	122259686	75762744	14	6893										
CHSY3	337876	broad.mit.edu	37	chr5	129241302	129241302	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tatgagtggttcatgcgcgcCgacgacgatgtctacatcaa	11	10	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.chr5:129241302C>A	ENST00000305031.4	+	1	1138	c.780C>A	c.(778-780)gcC>gcA	p.A260A	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	260					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)		TCATGCGCGCCGACGACGATG	0.567																																						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.(778-780)gcC>gcA		chondroitin sulfate synthase 3							104	106	105					5																	129241302		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.chr5:129241302C>A	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.780C>A	5.37:g.129241302C>A			Somatic				CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	p.A260A	NM_175856.4	NP_787052.3	WXS	Illumina GAIIx	Phase_I	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	1138	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	260					B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	c.780C>A	CCDS34223.1																																																																																				0.567	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		4	218	4	218	---	---	---	---	A	129241302	C	A	129241302	2	1	154	1	0	0	0	0	0	0	0	1	3413	639	23	1		1	CHSY3	5	129241302	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08		129241302	51673958	15	6894										
RBM22	55696	broad.mit.edu	37	chr5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	aatagtttaattctcaccttCcccatttcacattcagtctg	3	12	4	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.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000540000.1_Missense_Mutation_p.G254E|RBM22_ENST00000447771.2_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		Somatic				RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E	p.G303E	NM_018047.2	NP_060517.1	WXS	Illumina GAIIx	Phase_I	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	11	71	---	---	---	---	T	150073641	C	T	150073641	3	4	154	1	0	0	0	0	1	0	0	0	13122	855	30	2	370	2	RBM22	5	150073641	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	20832339	150073641	30841619	16	6895										
TCP11	6954	broad.mit.edu	37	chr6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	actaggctgcttattgaggaGttcctggaatttagcccgtt	11	8	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.chr6:35088704G>A	ENST00000512012.1	-	5	853	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	TCP11_ENST00000311875.5_Missense_Mutation_p.L246F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|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		Somatic				TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F	p.L246F			WXS	Illumina GAIIx	Phase_I	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	12	582	---	---	---	---	A	35088704	G	A	35088704	3	1	154	1	0	0	0	0	1	0	0	0	15710	1029	36	2	834	2	TCP11	6	35088704	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		35088704	136026363	17	6896										
PNPLA1	285848	broad.mit.edu	37	chr6	36270248	36270248	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ggccaagaacagccccaaggTatggacccttctggcttgtt	11	12	1	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.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	50	137	---	---	---	---	C	36270248	T	C	36270248	5	2	154	1	0	0	0	0	0	0	1	0	12164	1652	57	2	1435	2	PNPLA1	6	36270248	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08	1181544	36270248	134844819	18	6897										
IMPG1	3617	broad.mit.edu	37	chr6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cggcccttgggggcaatggtCatagaactagtggtgatata	14	7	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.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		Somatic				IMPG1_ENST00000369963.3_3'UTR	p.M564I	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	WXS	Illumina GAIIx	Phase_I	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	5	92	---	---	---	---	A	76660411	C	A	76660411	3	1	154	1	0	0	0	0	1	0	0	0	7728	826	29	3	721	3	IMPG1	6	76660411	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	40390163	76660411	94454656	19	6898										
SHH	6469	broad.mit.edu	37	chr7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ccgagcagtggatatgtgccTtggactcgtagtacacccag	12	11	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.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		Somatic					p.K178R	NM_000193.2	NP_000184.1	WXS	Illumina GAIIx	Phase_I	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	17	101	---	---	---	---	C	155599019	T	C	155599019	3	2	154	1	0	0	0	0	1	0	0	0	14279	1609	56	2	863	2	SHH	7	155599019	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08		155599019	3539644	20	6899										
PLEC	5339	broad.mit.edu	37	chr8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ttgagctcggagatgcagcgCtggcagcgagactcttcctg	14	11	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.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H	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		Somatic				PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H	p.Q1120H	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	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	9	55	---	---	---	---	A	145003714	C	A	145003714	3	1	154	1	0	0	0	0	1	0	0	0	12052	796	28	3	10730	3	PLEC	8	145003714	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		145003714	1360308	21	6900										
TRPM3	80036	broad.mit.edu	37	chr9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tgaaggtgttcccttcctggCtgttgaagctgctctgacgg	13	10	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.chr9:73152085C>T	ENST00000377111.2	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000377110.3_Missense_Mutation_p.S1303N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N	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																																						ENST00000377110.3																			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		Somatic				TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|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	p.S1303N			WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			25	4151	-								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	14	167	---	---	---	---	T	73152085	C	T	73152085	3	4	154	1	0	0	0	0	1	0	0	0	16584	797	28	2	1219	2	TRPM3	9	73152085	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		73152085	68061346	22	6901										
TGFBR1	7046	broad.mit.edu	37	chr9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ctggttggtgtcagattatcAtgagcatggatccctttttg	11	7	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.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		Somatic				TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R|TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R	p.H283R	NM_004612.2	NP_004603.1	WXS	Illumina GAIIx	Phase_I	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	16	122	---	---	---	---	G	101904860	A	G	101904860	3	3	154	1	0	0	0	0	1	0	0	0	15818	217	8	2	866	2	TGFBR1	9	101904860	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	28752775	101904860	39308571	23	6902										
INPP5E	56623	broad.mit.edu	37	chr9	139333278	139333278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gagtcggaggcgatgtccagGctcagggcaggcggtgggcg	21	9	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.chr9:139333278G>T	ENST00000371712.3	-	1	996	c.594C>A	c.(592-594)agC>agA	p.S198R	SEC16A_ENST00000467838.1_5'Flank	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)		CGATGTCCAGGCTCAGGGCAG	0.711																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(592-594)agC>agA		inositol polyphosphate-5-phosphatase, 72 kDa							16	18	17					9																	139333278		2194	4298	6492	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333278G>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.594C>A	9.37:g.139333278G>T	ENSP00000360777:p.Ser198Arg		Somatic					p.S198R	NM_019892.4	NP_063945.2	WXS	Illumina GAIIx	Phase_I	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	996	-		Myeloproliferative disorder(178;0.0511)	198			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.594C>A	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222075	0.39300	.	.	ENSG00000148384	ENST00000371712	T	0.39406	1.08	3.45	-4.64	0.03349	.	1.595900	0.04470	N	0.375837	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B;B	0.23735	0.09;0.054	B;B	0.18561	0.022;0.01	T	0.11155	-1.0599	10	0.42905	T	0.14	-4.705	2.5341	0.04710	0.1781:0.4438:0.1639:0.2142	.	198;198	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	R	198	ENSP00000360777:S198R	ENSP00000360777:S198R	S	-	3	2	INPP5E	138453099	0.004000	0.15560	0.000000	0.03702	0.012000	0.07955	-0.016000	0.12613	-0.746000	0.04766	-0.251000	0.11542	AGC		0.711	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		3	27	3	27	---	---	---	---	T	139333278	G	T	139333278	3	4	154	1	0	0	0	0	1	0	0	0	7757	1194	42	3	1380	3	INPP5E	9	139333278	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	37428418	139333278	1880153	24	6903										
LARP4B	23185	broad.mit.edu	37	chr10	888969	888969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ggcacatactggtcactatcCatctgtgatataagatacat	7	9	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.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		Somatic					p.M183I	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	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	9	30	---	---	---	---	A	888969	C	A	888969	3	1	154	1	0	0	0	0	1	0	0	0	8631	594	21	1	1715	1	LARP4B	10	888969	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		888969	134645778	25	6904										
HECTD2	143279	broad.mit.edu	37	chr10	93253266	93253266	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	aattccgattggttggaattGtatcctttaaactttccact	6	8	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.chr10:93253266G>A	ENST00000298068.5	+	14	1615		c.e14+1		HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_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			Somatic				HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site		NM_001284274.1	NP_001271203.1	WXS	Illumina GAIIx	Phase_I	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	15	30	---	---	---	---	A	93253266	G	A	93253266	5	1	154	1	0	0	0	0	0	0	1	0	7040	1391	48	2	1600	2	HECTD2	10	93253266	Splice_Site	SNP	G	TCGA-HC-7077-01A-11D-1961-08	92364297	93253266	42281481	26	6905										
KCNQ1	3784	broad.mit.edu	37	chr11	2549250	2549250	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ggggactctcttctggatggTacgtagcatctgagggcatg	15	8	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.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			Somatic				KCNQ1_ENST00000335475.5_Splice_Site		NM_000218.2	NP_000209.2	WXS	Illumina GAIIx	Phase_I	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	30	77	---	---	---	---	C	2549250	T	C	2549250	5	2	154	1	0	0	0	0	0	0	1	0	8082	1652	57	2	494	2	KCNQ1	11	2549250	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08		2549250	132457266	27	6906										
SF1	7536	broad.mit.edu	37	chr11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-													0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	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_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs	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)acafs		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		Somatic				SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs	p.T277fs	NM_004630.3	NP_004621.2	WXS	Illumina GAIIx	Phase_I	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	154	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	61987300	64536550	70469966	28	6907										
SESN3	143686	broad.mit.edu	37	chr11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ccatagtgttatatgtgagaTtgtagaccatccgaaacttt	8	7	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.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_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	64	---	---	---	---	C	94910979	T	C	94910979	3	2	154	1	0	0	0	0	1	0	0	0	14126	1493	52	2	339	2	SESN3	11	94910979	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	30374429	94910979	40095537	29	6908										
DPAGT1	1798	broad.mit.edu	37	chr11	118972268	118972268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gcgcagcaatgaagtggcccCggaaggccgggatgagggtg	19	9	0	2	rs1046375		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.chr11:118972268C>A	ENST00000409993.2	-	3	1649	c.98G>T	c.(97-99)cGg>cTg	p.R33L	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.R33L|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	33				R -> L (in Ref. 1; CAB04787). {ECO:0000305}.	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)		GAAGTGGCCCCGGAAGGCCGG	0.617											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(97-99)cGg>cTg		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							87	96	93					11																	118972268		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118972268C>A	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.98G>T	11.37:g.118972268C>A	ENSP00000386597:p.Arg33Leu		Somatic	OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.R33L	p.R33L			WXS	Illumina GAIIx	Phase_I	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	1649	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	33	R -> L (in Ref. 1; CAB04787).				O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.98G>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523583	0.64747	.	.	ENSG00000172269	ENST00000409993;ENST00000354202	D;D	0.91464	-2.85;-2.85	5.65	3.8	0.43715	.	0.103605	0.64402	D	0.000009	T	0.81451	0.4825	L	0.31578	0.945	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.70096	-0.4966	10	0.13470	T	0.59	-19.8264	6.9283	0.24428	0.0:0.6774:0.0:0.3226	rs1046375	33	Q9H3H5	GPT_HUMAN	L	33	ENSP00000386597:R33L;ENSP00000346142:R33L	ENSP00000346142:R33L	R	-	2	0	DPAGT1	118477478	0.910000	0.30920	0.885000	0.34714	0.925000	0.55904	1.250000	0.32850	0.944000	0.37579	0.655000	0.94253	CGG		0.617	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		4	223	4	223	---	---	---	---	A	118972268	C	A	118972268	3	1	154	1	0	0	0	0	1	0	0	0	4710	652	23	1	1164	1	DPAGT1	11	118972268	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	24061289	118972268	16034248	30	6909										
VWF	7450	broad.mit.edu	37	chr12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cccacaggagctcacgttgcCatcacagtgccggggacagc	12	15	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.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		Somatic					p.G2222S	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	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	12	44	---	---	---	---	T	6101119	C	T	6101119	3	4	154	1	0	0	0	0	1	0	0	0	17243	594	21	2	1837	2	VWF	12	6101119	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		6101119	127750776	31	6910										
KIF21A	55605	broad.mit.edu	37	chr12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cttactgtacctcttcagttTtgcgacgtagaaccacttct	6	12	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.chr12:39727024T>C	ENST00000361418.5	-	18	2492	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R|KIF21A_ENST00000395670.3_Missense_Mutation_p.K826R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_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		Somatic				KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R	p.K826R			WXS	Illumina GAIIx	Phase_I	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	74	177	---	---	---	---	C	39727024	T	C	39727024	3	2	154	1	0	0	0	0	1	0	0	0	8288	1841	64	2	2631	2	KIF21A	12	39727024	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	33625905	39727024	94124871	32	6911										
LRRK2	120892	broad.mit.edu	37	chr12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gacttctaatttaaggaaacAaacaagtaagtaacaaggag	8	5	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.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		Somatic				LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	p.Q832R	NM_198578.3	NP_940980	WXS	Illumina GAIIx	Phase_I	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	12	52	---	---	---	---	G	40677930	A	G	40677930	3	3	154	1	0	0	0	0	1	0	0	0	9033	130	5	2	2569	2	LRRK2	12	40677930	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	950906	40677930	93173965	33	6912										
NAB2	4665	broad.mit.edu	37	chr12	57486300	57486300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tcttattacggagagtggagCtcttctctttgtcccgccaa	9	11	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.chr12:57486300C>A	ENST00000300131.3	+	3	1405	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I	NAB2_ENST00000342556.6_Missense_Mutation_p.L343I|NAB2_ENST00000357680.4_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	343	NCD2.				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						GAGAGTGGAGCTCTTCTCTTT	0.582																																						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.(1027-1029)Ctc>Atc		NGFI-A binding protein 2 (EGR1 binding protein 2)							125	104	111					12																	57486300		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.chr12:57486300C>A	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.1027C>A	12.37:g.57486300C>A	ENSP00000300131:p.Leu343Ile		Somatic				NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L343I	p.L343I	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			3	1405	+			343			NCD2.		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.1027C>A	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114977	0.94339	.	.	ENSG00000166886	ENST00000300131;ENST00000342556	.	.	.	4.88	4.88	0.63580	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000005	T	0.75939	0.3918	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.91635	0.999	T	0.78290	-0.2261	9	0.87932	D	0	-14.3258	15.5659	0.76290	0.0:1.0:0.0:0.0	.	343	Q15742	NAB2_HUMAN	I	343	.	ENSP00000300131:L343I	L	+	1	0	NAB2	55772567	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	7.404000	0.79996	2.517000	0.84864	0.655000	0.94253	CTC		0.582	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		4	60	4	60	---	---	---	---	A	57486300	C	A	57486300	3	1	154	1	0	0	0	0	1	0	0	0	10132	797	28	3	1037	3	NAB2	12	57486300	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	16808370	57486300	76365595	34	6913										
BEST3	144453	broad.mit.edu	37	chr12	70072612	70072612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	aaccagatgaatggaacccaAtatttcagatgaggagactt	9	7	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.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000553096.1_Silent_p.Y75Y|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			Somatic				BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y	p.Y181Y	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	WXS	Illumina GAIIx	Phase_I	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	6	50	---	---	---	---	G	70072612	A	G	70072612	2	3	154	1	0	0	0	0	0	0	0	1	1406	108	4	2		2	BEST3	12	70072612	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	12586312	70072612	63779283	35	6914										
DIAPH3	81624	broad.mit.edu	37	chr13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	tacaacttcctcttaccttaTaaaataatcatttcgaatca	1	10	3	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.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	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		Somatic				DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|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	WXS	Illumina GAIIx	Phase_I	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	10	28	---	---	---	---	C	60565296	T	C	60565296	3	2	154	1	0	0	0	0	1	0	0	0	4520	1406	49	2	2312	2	DIAPH3	13	60565296	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08		60565296	54604582	36	6915										
C13orf37	440145	broad.mit.edu	37	chr13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ctaataggaatctccaacctTcagtgcttcagtagccttgc	7	12	3	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.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		Somatic					p.K75Q	NM_001071775.2	NP_001065243.1	WXS	Illumina GAIIx	Phase_I	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	13	170	---	---	---	---	G	73293092	T	G	73293092	3	3	154	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	12727796	73293092	41876786	37	6916										
KIAA0247	9766	broad.mit.edu	37	chr14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-													0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	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)ttcfs		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		Somatic					p.F24fs	NM_014734.3	NP_055549.1	WXS	Illumina GAIIx	Phase_I	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	154	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	38	6917										
FBN1	2200	broad.mit.edu	37	chr15	48707834	48707834	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gcctgcgcagagccacattcAttgatgtcttggcatcctcc	9	14	2	2	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			Somatic				FBN1_ENST00000561429.1_5'UTR	p.N2650N	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	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	47	110	---	---	---	---	G	48707834	A	G	48707834	2	3	154	1	0	0	0	0	0	0	0	1	5702	214	8	2		2	FBN1	15	48707834	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08		48707834	53823558	39	6918										
CYP19A1	1588	broad.mit.edu	37	chr15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ttgataaattcttaccaataAcagtctggatttcctttatt	4	7	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.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A|CYP19A1_ENST00000260433.2_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	1588				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		Somatic				CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A	p.V339A	NM_000103.3	NP_000094.2	WXS	Illumina GAIIx	Phase_I	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	10	23	---	---	---	---	G	51507272	A	G	51507272	3	3	154	1	0	0	0	0	1	0	0	0	4148	43	2	2	507	2	CYP19A1	15	51507272	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	2799438	51507272	51024120	40	6919										
CREBBP	1387	broad.mit.edu	37	chr16	3789711	3789711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ggaaagattcagacatttccCcagaatccacaaacctgaaa	6	11	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.chr16:3789711C>A	ENST00000262367.5	-	25	4957	c.4148G>T	c.(4147-4149)gGg>gTg	p.G1383V	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1345V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1383	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				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)		AGACATTTCCCCAGAATCCAC	0.473			"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.(4147-4149)gGg>gTg		CREB binding protein							67	64	65					16																	3789711		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.chr16:3789711C>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.4148G>T	16.37:g.3789711C>A	ENSP00000262367:p.Gly1383Val		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.G1345V	p.G1383V	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	4957	-		Ovarian(90;0.0266)	1383			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4148G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097181	0.76870	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93488	-3.23;-3.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.91717	3.235	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.95	D	0.97804	1.0246	10	0.72032	D	0.01	-13.3662	19.8419	0.96692	0.0:1.0:0.0:0.0	.	1413;1383	Q4LE28;Q92793	.;CBP_HUMAN	V	1383;1413;1345	ENSP00000262367:G1383V;ENSP00000371502:G1345V	ENSP00000262367:G1383V	G	-	2	0	CREBBP	3729712	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.713000	0.84693	2.767000	0.95098	0.561000	0.74099	GGG		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	41	5	41	---	---	---	---	A	3789711	C	A	3789711	3	1	154	1	0	0	0	0	1	0	0	0	3861	623	22	1	3208	1	CREBBP	16	3789711	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		3789711	86565042	41	6920										
AMFR	267	broad.mit.edu	37	chr16	56436913	56436913	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	ttacctggcctccatgtttcCaaccacacgtagatagttct	6	13	1	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.chr16:56436913C>A	ENST00000290649.5	-	7	1168	c.958G>T	c.(958-960)Gga>Tga	p.G320*		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	320					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						TCCATGTTTCCAACCACACGT	0.438																																					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.(958-960)Gga>Tga		autocrine motility factor receptor, E3 ubiquitin protein ligase							179	155	163					16																	56436913		2198	4300	6498	SO:0001587	stop_gained	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.chr16:56436913C>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.958G>T	16.37:g.56436913C>A	ENSP00000290649:p.Gly320*		Somatic					p.G320*	NM_001144.5	NP_001135.3	WXS	Illumina GAIIx	Phase_I	Q9UKV5	AMFR2_HUMAN			7	1168	-			320					P26442|Q8IZ70	Nonsense_Mutation	SNP	ENST00000290649.5	37	c.958G>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927936	0.92389	.	.	ENSG00000159461	ENST00000290649	.	.	.	5.74	5.74	0.90152	.	0.102858	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-14.1855	19.9015	0.96985	0.0:1.0:0.0:0.0	.	.	.	.	X	320	.	ENSP00000290649:G320X	G	-	1	0	AMFR	54994414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.932000	0.70121	2.704000	0.92352	0.655000	0.94253	GGA		0.438	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			4	122	4	122	---	---	---	---	A	56436913	C	A	56436913	4	1	154	1	0	0	0	0	0	1	0	0	571	603	21	1	1005	1	AMFR	16	56436913	Nonsense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	52647202	56436913	33917840	42	6921										
CDH5	1003	broad.mit.edu	37	chr16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-													0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	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)tccfs		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		Somatic				CDH5_ENST00000539168.1_5'UTR	p.S461fs	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	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	154	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	9994993	66431906	23922847	43	6922										
RPA1	6117	broad.mit.edu	37	chr17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	atgaggtcaaatccgagaacCtgggccaaggcgacaaggta	13	9	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.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		Somatic					p.L453V	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	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	31	66	---	---	---	---	G	1787221	C	G	1787221	3	3	154	1	0	0	0	0	1	0	0	0	13536	680	24	4	1407	4	RPA1	17	1787221	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1787221	79407989	44	6923										
CASKIN2	57513	broad.mit.edu	37	chr17	73497899	73497899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gagggcagcaggggcggccgGgggttctgtctccccattcc	17	13	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.chr17:73497899G>T	ENST00000321617.3	-	18	3842	c.3256C>A	c.(3256-3258)Ccg>Acg	p.P1086T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P1004T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1086	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)			GGGGCGGCCGGGGGTTCTGTC	0.672																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3256-3258)Ccg>Acg		CASK interacting protein 2							50	62	58					17																	73497899		2195	4288	6483	SO:0001583	missense	57513					cytoplasm		g.chr17:73497899G>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.3256C>A	17.37:g.73497899G>T	ENSP00000325355:p.Pro1086Thr		Somatic				CASKIN2_ENST00000433559.2_Missense_Mutation_p.P1004T	p.P1086T	NM_020753.3	NP_065804.2	WXS	Illumina GAIIx	Phase_I	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	3842	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1086			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3256C>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532104	0.27387	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69175	-0.38;-0.18	5.17	3.15	0.36227	.	0.150400	0.31167	N	0.008125	T	0.47135	0.1429	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	10	0.25751	T	0.34	.	7.6706	0.28457	0.0825:0.0:0.7556:0.1619	.	1086	Q8WXE0	CSKI2_HUMAN	T	1086;1004	ENSP00000325355:P1086T;ENSP00000406963:P1004T	ENSP00000325355:P1086T	P	-	1	0	CASKIN2	71009494	0.998000	0.40836	0.670000	0.29842	0.043000	0.13939	2.454000	0.44979	0.733000	0.32492	0.591000	0.81541	CCG		0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		5	240	5	240	---	---	---	---	T	73497899	G	T	73497899	3	4	154	1	0	0	0	0	1	0	0	0	2667	1232	43	1	364	1	CASKIN2	17	73497899	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	71710678	73497899	7697311	45	6924										
SBNO2	22904	broad.mit.edu	37	chr19	1113561	1113561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	acccgctgggggccgcccagCtggtcgatgagctcgtccag	15	15	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.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			Somatic				SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	p.Q740Q	NM_014963.2	NP_055778.2	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	T	1113561	C	T	1113561	2	4	154	1	0	0	0	0	0	0	0	1	13863	796	28	2		2	SBNO2	19	1113561	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1113561	58015422	46	6925										
MUC16	94025	broad.mit.edu	37	chr19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gctcagctcccagtatagctGctccctgtccactccagggc	9	17	1	0	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		Somatic					p.Q12786E	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	49	129	---	---	---	---	C	9014619	G	C	9014619	3	2	154	1	0	0	0	0	1	0	0	0	9973	1328	46	4	5383	4	MUC16	19	9014619	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7901058	9014619	50114364	47	6926										
DHX34	9704	broad.mit.edu	37	chr19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	agacgctgaaggagcaccagGtggtggtagtggccggtgac	18	8	0	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.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		Somatic					p.V180M	NM_014681.5	NP_055496.2	WXS	Illumina GAIIx	Phase_I	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	13	47	---	---	---	---	A	47856825	G	A	47856825	3	1	154	1	0	0	0	0	1	0	0	0	4507	1261	44	2	540	2	DHX34	19	47856825	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	38842206	47856825	11272158	48	6927										
KCNQ2	3785	broad.mit.edu	37	chr20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cgggatggagatggacgtgtCgctgtcccgcaggttcccct	15	12	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_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D793N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N	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		Somatic				KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N	p.D793N			WXS	Illumina GAIIx	Phase_I	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	10	23	---	---	---	---	T	62038263	C	T	62038263	3	4	154	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		62038263	987257	49	6928										
UBASH3A	53347	broad.mit.edu	37	chr21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	cggggcccctgctggaaaaaCttcaagagttctggagagag	14	9	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.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_ENST00000398367.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_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		Somatic				UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F	p.L88F	NM_018961.3	NP_061834.1	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	43829625	C	T	43829625	3	4	154	1	0	0	0	0	1	0	0	0	16836	565	20	2	272	2	UBASH3A	21	43829625	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		43829625	4300270	50	6929										
WDR4	10785	broad.mit.edu	37	chr21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	acctaccacatctaacagcaTagacaggtgccccagctcta	6	15	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.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	22	59	---	---	---	---	C	44283564	T	C	44283564	3	2	154	1	0	0	0	0	1	0	0	0	17290	1406	49	2	831	2	WDR4	21	44283564	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	453939	44283564	3846331	51	6930										
DRG1	4733	broad.mit.edu	37	chr22	31829930	31829930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0192307692307692	1	1	0.51328320802005	0	0.641604010025063	1	1	0	gaccatacgttggaggatgaGgatgtcattcaaattgtgaa	12	5	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.chr22:31829930G>T	ENST00000331457.4	+	9	1238	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	359					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGAGGATGAGGATGTCATTC	0.488																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(1075-1077)gaG>gaT		developmentally regulated GTP binding protein 1							154	123	133					22																	31829930		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31829930G>T	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.1077G>T	22.37:g.31829930G>T	ENSP00000329715:p.Glu359Asp		Somatic					p.E359D	NM_004147.3	NP_004138.1	WXS	Illumina GAIIx	Phase_I	Q9Y295	DRG1_HUMAN			9	1238	+			359					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.1077G>T	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208810	0.79240	.	.	ENSG00000185721	ENST00000331457	T	0.21191	2.02	5.29	-1.42	0.08913	TGS-like (1);TGS (1);	0.049649	0.85682	N	0.000000	T	0.39172	0.1068	H	0.94222	3.51	0.58432	D	0.999998	P	0.44044	0.825	P	0.50934	0.654	T	0.33675	-0.9859	10	0.66056	D	0.02	-14.7468	4.9856	0.14189	0.3892:0.1446:0.4662:0.0	.	359	Q9Y295	DRG1_HUMAN	D	359	ENSP00000329715:E359D	ENSP00000329715:E359D	E	+	3	2	DRG1	30159930	1.000000	0.71417	0.978000	0.43139	0.981000	0.71138	1.020000	0.30027	-0.091000	0.12440	0.655000	0.94253	GAG		0.488	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		4	80	4	80	---	---	---	---	T	31829930	G	T	31829930	3	4	154	1	0	0	0	0	1	0	0	0	4761	991	35	1	1111	1	DRG1	22	31829930	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		31829930	19474636	52	6931										
SYNC	81493	broad.mit.edu	37	chr1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tagcagcagaaactgacttaTaagtagagagctcttcagca	9	8	2	3	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		Somatic				RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	p.Y452C	NM_001161708.1	NP_001155180	WXS	Illumina GAIIx	Phase_I	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	133	186	---	---	---	---	C	33149862	T	C	33149862	3	2	155	1	0	0	0	0	1	0	0	0	15440	1406	49	2	167	2	SYNC	1	33149862	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		33149862	216100759	1	6932										
HCN3	57657	broad.mit.edu	37	chr1	155255754	155255754	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	accgatggatcctactttggGggtcagcaggcctcagggag	15	10	2	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.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.(1474-1476)ggG>ggT		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			Somatic				HCN3_ENST00000496230.1_3'UTR	p.G492G	NM_020897.2	NP_065948.1	WXS	Illumina GAIIx	Phase_I	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.1476G>T	CCDS1108.1																																																																																				0.647	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	Silent	54	114	54	114	---	---	---	---	T	155255754	G	T	155255754	5	4	155	1	0	0	0	0	0	0	1	0	6998	1246	43	1	1498	1	HCN3	1	155255754	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	122105892	155255754	93994867	2	6933										
CCDC74B	91409	broad.mit.edu	37	chr2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tcgctctgcctgagctgcggGctctgcggcctcaaggactg	14	14	3	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.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409234.3_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		Somatic				CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R	p.S38R	NM_207310.2	NP_997193.1	WXS	Illumina GAIIx	Phase_I	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	17	24	---	---	---	---	C	130902456	G	C	130902456	3	2	155	1	0	0	0	0	1	0	0	0	2848	1194	42	4	1060	4	CCDC74B	2	130902456	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08		130902456	112296917	3	6934										
HOXD10	3236	broad.mit.edu	37	chr2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	acctgttacacagcaagtccCcacttgctccttcaccacca	4	18	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.chr2:176981857C>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		Somatic				HOXD10_ENST00000490088.2_Intron	p.P99L	NM_002148.3	NP_002139.2	WXS	Illumina GAIIx	Phase_I	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	36	65	---	---	---	---	T	176981857	C	T	176981857	3	4	155	1	0	0	0	0	1	0	0	0	7319	623	22	2	298	2	HOXD10	2	176981857	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	46079401	176981857	66217516	4	6935										
ANO10	55129	broad.mit.edu	37	chr3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	cagcatatcgatagagacgaTtcatgatctcaatcacaatg	7	9	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.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_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S	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		Somatic				ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron	p.N374S	NM_018075.3	NP_060545.3	WXS	Illumina GAIIx	Phase_I	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	18	34	---	---	---	---	C	43618225	T	C	43618225	3	2	155	1	0	0	0	0	1	0	0	0	696	1493	52	2	893	2	ANO10	3	43618225	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		43618225	154404205	5	6936										
FYCO1	79443	broad.mit.edu	37	chr3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tgcttgctcagcttacctctGagatagacttgacaaagcgg	10	10	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.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		Somatic				FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	p.S95L	NM_024513.3	NP_078789.2	WXS	Illumina GAIIx	Phase_I	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	38	89	---	---	---	---	A	46021201	G	A	46021201	3	1	155	1	0	0	0	0	1	0	0	0	6125	1294	45	2	4212	2	FYCO1	3	46021201	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	2402976	46021201	152001229	6	6937										
OR5H6	79295	broad.mit.edu	37	chr3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	atatgatggagtctctatttTacactgtcatagttccttta	6	7	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.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		Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.Y294H	NM_001005479.1	NP_001005479.1	WXS	Illumina GAIIx	Phase_I	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	16	35	---	---	---	---	C	97984008	T	C	97984008	3	2	155	1	0	0	0	0	1	0	0	0	11163	1754	61	2	882	2	OR5H6	3	97984008	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	51962807	97984008	100038422	7	6938										
CD86	942	broad.mit.edu	37	chr3	121828209	121828209	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	atggttttctgtctaattctAtggaaatggaagaagaagaa	10	3	3	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.chr3:121828209A>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_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000264468.5_Silent_p.L54L	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			Somatic				CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000264468.5_Silent_p.L54L	p.L267L	NM_175862.4	NP_787058	WXS	Illumina GAIIx	Phase_I	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	51	92	---	---	---	---	T	121828209	A	T	121828209	2	4	155	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	8	6939										
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	8	7	0	3	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)	Somatic					p.N345K	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	6	62	---	---	---	---	A	178921553	T	A	178921553	3	1	155	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	57093344	178921553	19100877	9	6940										
SLC26A1	10861	broad.mit.edu	37	chr4	985025	985025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tgagggtgctgctgttggctCcgggctgcaggccgtcctgg	18	11	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_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|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		Somatic				SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	p.G156E	NM_213613.2	NP_998778.1	WXS	Illumina GAIIx	Phase_I	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	23	32	---	---	---	---	T	985025	C	T	985025	3	4	155	1	0	0	0	0	1	0	0	0	14514	855	30	2	1749	2	SLC26A1	4	985025	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		985025	190169251	10	6941										
GRIA1	2890	broad.mit.edu	37	chr5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	agaggacctagcgaagcagaCagaaattgcctacgggacgc	13	10	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.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_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	2890				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		Somatic				GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K	p.T657K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	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	13	39	---	---	---	---	A	153144140	C	A	153144140	3	1	155	1	0	0	0	0	1	0	0	0	6767	478	17	3	2016	3	GRIA1	5	153144140	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		153144140	27771120	11	6942										
EHD1	10938	broad.mit.edu	37	chr11	64622147	64622147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tcgccgtagccgtgcccgaaCggcccgttcatggtgccgtc	13	16	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.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			Somatic				EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	WXS	Illumina GAIIx	Phase_I	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	13	147	---	---	---	---	T	64622147	C	T	64622147	2	4	155	1	0	0	0	0	0	0	0	1	4977	523	19	2		2	EHD1	11	64622147	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08		64622147	70384369	12	6943										
MYO7A	4647	broad.mit.edu	37	chr11	76893185	76893185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ccactgctctaccatgacgaCgagggtgaccagctggtaag	12	12	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.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000409893.1_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000458637.2_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			Somatic				MYO7A_ENST00000409893.1_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000458637.2_Silent_p.D1031D	p.D1031D	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	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	5	118	---	---	---	---	T	76893185	C	T	76893185	2	4	155	1	0	0	0	0	0	0	0	1	10082	535	19	2		2	MYO7A	11	76893185	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	12271038	76893185	58113331	13	6944										
KRT5	3852	broad.mit.edu	37	chr12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tctcagctctgagtccaggcGgccccgttcccccacgatgc	10	18	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.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		Somatic					p.R239C	NM_000424.3	NP_000415.2	WXS	Illumina GAIIx	Phase_I	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	6	272	---	---	---	---	A	52912785	G	A	52912785	3	1	155	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		52912785	80939110	14	6945										
TXNRD1	7296	broad.mit.edu	37	chr12	104742131	104742131	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tgctttctcttcccctgcagGtattcacaacattgtctgtg	7	12	3	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.chr12:104742131G>T	ENST00000529546.1	+	14	1543	c.1318G>T	c.(1318-1320)Gta>Tta	p.V440L	TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000526691.1_Splice_Site_p.V530L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L			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.(1588-1590)Gta>Tta		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			Somatic				TXNRD1_ENST00000529546.1_Splice_Site_p.V440L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L	p.V530L	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	WXS	Illumina GAIIx	Phase_I	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.1588G>T	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	63	119	---	---	---	---	T	104742131	G	T	104742131	5	4	155	1	0	0	0	0	0	0	1	0	16804	1275	44	3	1962	3	TXNRD1	12	104742131	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	51829346	104742131	29109764	15	6946										
CYFIP1	23191	broad.mit.edu	37	chr15	22945111	22945111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	cgcaagctcttcgacctggcGctgcagggcctgcagctgtt	13	14	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.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			Somatic				CYFIP1_ENST00000560848.1_Silent_p.A394A	p.A394A	NM_014608.2	NP_055423.1	WXS	Illumina GAIIx	Phase_I	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	11	16	---	---	---	---	A	22945111	G	A	22945111	2	1	155	1	0	0	0	0	0	0	0	1	4137	1074	38	2		2	CYFIP1	15	22945111	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		22945111	79586281	16	6947										
CACNB1	782	broad.mit.edu	37	chr17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	aggcactcacaggggggcacTgtgccagcttttccgaggcc	14	13	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.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R|CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R	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		Somatic				CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	p.Q379R	NM_000723.4	NP_000714.3	WXS	Illumina GAIIx	Phase_I	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	61	123	---	---	---	---	C	37334247	T	C	37334247	3	2	155	1	0	0	0	0	1	0	0	0	2552	1580	55	2	777	2	CACNB1	17	37334247	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		37334247	43860963	17	6948										
KIAA1267	284058	broad.mit.edu	37	chr17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	gcacgggtggtggtgggttgAgcaagcgctctgcttttggc	18	8	1	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.chr17:44116470A>C	ENST00000262419.6	-	9	2785	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_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		Somatic				KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R	p.L772R	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	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	35	82	---	---	---	---	C	44116470	A	C	44116470	3	2	155	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	18	6949										
RECQL5	9400	broad.mit.edu	37	chr17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ctgatagaagaggttccactCccgcttgtgggcctcatctc	10	13	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		Somatic				RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q	p.E503Q	NM_004259.6	NP_004250.4	WXS	Illumina GAIIx	Phase_I	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	43	71	---	---	---	---	G	73627271	C	G	73627271	3	3	155	1	0	0	0	0	1	0	0	0	13203	864	30	4	1512	4	RECQL5	17	73627271	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	29510801	73627271	7567939	19	6950										
SMAD2	4087	broad.mit.edu	37	chr18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ttcaatccagcaaggagtacTtgttaccgtctgccttctgt	8	11	3	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.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_ENST00000356825.4_Missense_Mutation_p.S403G|SMAD2_ENST00000586040.1_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		Somatic				SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G	p.S433G	NM_001003652.3	NP_001003652.1	WXS	Illumina GAIIx	Phase_I	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	18	10	---	---	---	---	C	45368305	T	C	45368305	3	2	155	1	0	0	0	0	1	0	0	0	14758	1609	56	2	110	2	SMAD2	18	45368305	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		45368305	32708943	20	6951										
SPPL2B	56928	broad.mit.edu	37	chr19	2345262	2345262	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ctcccccagggctgctggtgGcctactgccacaggtttgac	12	15	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	30	50	---	---	---	---	C	2345262	G	C	2345262	1	2	155	0	1	0	0	0	0	0	0	0	15088	1203	42	4		4	SPPL2B	19	2345262	RNA	SNP	G	TCGA-HC-7078-01A-11D-2114-08		2345262	56783721	21	6952										
LRG1	116844	broad.mit.edu	37	chr19	4538288	4538288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	aggaagaggtagcgcaggtcCggctgcggcaagaggagatc	18	8	0	3	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	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	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			Somatic				CTB-50L17.14_ENST00000586020.1_Intron	p.P236P	NM_052972.2	NP_443204.1	WXS	Illumina GAIIx	Phase_I	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	43	418	---	---	---	---	T	4538288	C	T	4538288	2	4	155	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	22	6953										
TMEM145	284339	broad.mit.edu	37	chr19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	tcaatatgccaccgatggcaTtggcaacgagagtgtgaaga	12	8	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.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		Somatic				TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T	p.I258T			WXS	Illumina GAIIx	Phase_I	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	11	81	---	---	---	---	C	42820687	T	C	42820687	3	2	155	1	0	0	0	0	1	0	0	0	16056	1493	52	2	735	2	TMEM145	19	42820687	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	38282399	42820687	16308296	23	6954										
TMEM189-UBE2V1	7335	broad.mit.edu	37	chr20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ggacaactttgatgctatatGaattctgccattttgctagc	8	8	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.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L	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		Somatic				UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L	p.S337L	NM_199203.2	NP_954673	WXS	Illumina GAIIx	Phase_I			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	26	35	---	---	---	---	A	48699408	G	A	48699408	3	1	155	1	0	0	0	0	1	0	0	0	16109	1294	45	2	106	2	TMEM189-UBE2V1	20	48699408	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08		48699408	14326112	24	6955										
KCNJ4	3761	broad.mit.edu	37	chr22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	cgggagggaagcctgcatgcGctccaggtccaggtggctgc	17	12	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.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		Somatic				RP3-434P1.6_ENST00000433230.1_RNA	p.R427C	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	WXS	Illumina GAIIx	Phase_I	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	65	129	---	---	---	---	A	38822859	G	A	38822859	3	1	155	1	0	0	0	0	1	0	0	0	8053	1087	38	2	62	2	KCNJ4	22	38822859	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08		38822859	12481707	25	6956										
SPANXD	64648	broad.mit.edu	37	chrX	140785743	140785743	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.22023182297155	0	1.58630136986301	0.333333333333333	1	0	ctggagatgttcttttaaagTtcctcctgtagcgaaccact	8	10	1	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.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		Somatic					p.N58I	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	WXS	Illumina GAIIx	Phase_I					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	21	203	---	---	---	---	A	140785743	T	A	140785743	3	1	155	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	26	6957										
PPP1R8	5511	broad.mit.edu	37	chr1	28159280	28159280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttcagggcaggtaagcccCctcccggtttacatctggat	10	12	2	0			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.chr1:28159280C>A	ENST00000311772.5	+	2	128	c.70C>A	c.(70-72)Cct>Act	p.P24T	PPP1R8_ENST00000236412.7_5'UTR|PPP1R8_ENST00000373931.4_5'UTR|SCARNA1_ENST00000517138.1_RNA	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	24	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)		AGGTAAGCCCCCTCCCGGTTT	0.378																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(70-72)Cct>Act		protein phosphatase 1, regulatory subunit 8							61	67	65					1																	28159280		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.chr1:28159280C>A	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.70C>A	1.37:g.28159280C>A	ENSP00000311677:p.Pro24Thr		Somatic				PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	p.P24T	NM_014110.4	NP_054829.2	WXS	Illumina GAIIx	Phase_I	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)	2	128	+		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)	24			Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.70C>A	CCDS311.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206764	0.79127	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	T	0.38077	1.16	5.77	5.77	0.91146	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.54323	1.7	0.80722	D	1	P	0.34815	0.47	B	0.32342	0.144	T	0.10359	-1.0633	10	0.36615	T	0.2	-7.479	20.3627	0.98863	0.0:1.0:0.0:0.0	.	24	Q12972	PP1R8_HUMAN	T	24	ENSP00000311677:P24T	ENSP00000311677:P24T	P	+	1	0	PPP1R8	28031867	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.885000	0.99019	0.655000	0.94253	CCT		0.378	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		4	52	4	52	---	---	---	---	A	28159280	C	A	28159280	3	1	156	1	0	0	0	0	1	0	0	0	12377	623	22	1	76	1	PPP1R8	1	28159280	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08		28159280	221091341	1	6958										
THRAP3	9967	broad.mit.edu	37	chr1	36755264	36755264	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctgagagccgagacaagctGggagcgaaaggagattttcc	14	8	1	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.chr1:36755264G>T	ENST00000354618.5	+	5	1868	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	THRAP3_ENST00000469141.2_Silent_p.L548L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	548	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)				GAGACAAGCTGGGAGCGAAAG	0.498			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.(1642-1644)ctG>ctT		thyroid hormone receptor associated protein 3							89	95	93					1																	36755264		2203	4300	6503	SO:0001819	synonymous_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.chr1:36755264G>T	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.1644G>T	1.37:g.36755264G>T			Somatic				THRAP3_ENST00000469141.2_Silent_p.L548L	p.L548L	NM_005119.3	NP_005110.2	WXS	Illumina GAIIx	Phase_I	Q9Y2W1	TR150_HUMAN			5	1868	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	548					D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.1644G>T	CCDS405.1																																																																																				0.498	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	141	5	141	---	---	---	---	T	36755264	G	T	36755264	2	4	156	1	0	0	0	0	0	0	0	1	15871	1335	47	1		1	THRAP3	1	36755264	Silent	SNP	G	TCGA-HC-7079-01A-11D-1961-08	8595984	36755264	212495357	2	6959										
RBM15	64783	broad.mit.edu	37	chr1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgaaggccaaacgctcccGtggtggtgaggactcgactt	14	10	0	2			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_ENST00000487146.2_Missense_Mutation_p.R59H|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R59H	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		Somatic				RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H	p.R59H	NM_022768.4	NP_073605.4	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	A	110882203	G	A	110882203	3	1	156	1	0	0	0	0	1	0	0	0	13116	1145	40	2	178	2	RBM15	1	110882203	Missense_Mutation	SNP	G	TCGA-HC-7079-01A-11D-1961-08	74126939	110882203	138368418	3	6960										
INSRR	3645	broad.mit.edu	37	chr1	156819189	156819189	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccacgggaatggtgagcccCgcggccacccaggaccctag	13	17	0	1	rs371631913		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.chr1:156819189C>A	ENST00000368195.3	-	6	1689	c.1293G>T	c.(1291-1293)gcG>gcT	p.A431A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					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)					TGGTGAGCCCCGCGGCCACCC	0.622																																						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.(1291-1293)gcG>gcT		insulin receptor-related receptor							96	99	98					1																	156819189		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:156819189C>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.1293G>T	1.37:g.156819189C>A			Somatic				NTRK1_ENST00000392302.2_Intron	p.A431A	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			6	1689	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		431					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1293G>T	CCDS1160.1																																																																																				0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		4	155	4	155	---	---	---	---	A	156819189	C	A	156819189	2	1	156	1	0	0	0	0	0	0	0	1	7774	639	23	1		1	INSRR	1	156819189	Silent	SNP	C	TCGA-HC-7079-01A-11D-1961-08	45936986	156819189	92431432	4	6961										
CD1B	910	broad.mit.edu	37	chr1	158299162	158299162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtccctgctatttcttactcCagtagaggatgatgtcctgg	10	10	1	2			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.chr1:158299162C>A	ENST00000368168.3	-	4	991	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	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.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552																																						ENST00000368168.3																			1	Substitution - Missense(1)	p.W295L(1)	ovary(1)	breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(883-885)tGg>tTg		CD1b molecule							56	57	57					1																	158299162		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.chr1:158299162C>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.884G>T	1.37:g.158299162C>A	ENSP00000357150:p.Trp295Leu		Somatic					p.W295L	NM_001764.2	NP_001755.1	WXS	Illumina GAIIx	Phase_I	P29016	CD1B_HUMAN			4	991	-	all_hematologic(112;0.0378)		295			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.884G>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698551	0.30142	.	.	ENSG00000158485	ENST00000368168	T	0.13778	2.56	4.26	3.33	0.38152	MHC class I-like antigen recognition (1);	0.204806	0.24886	N	0.034813	T	0.22322	0.0538	H	0.96365	3.81	0.36075	D	0.842387	D	0.58970	0.984	P	0.47744	0.556	T	0.36089	-0.9762	10	0.87932	D	0	-5.9007	9.4821	0.38906	0.2116:0.7884:0.0:0.0	.	295	P29016	CD1B_HUMAN	L	295	ENSP00000357150:W295L	ENSP00000357150:W295L	W	-	2	0	CD1B	156565786	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.174000	0.50847	1.119000	0.41883	-0.181000	0.13052	TGG		0.552	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		4	97	4	97	---	---	---	---	A	158299162	C	A	158299162	3	1	156	1	0	0	0	0	1	0	0	0	2975	595	21	1	129	1	CD1B	1	158299162	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08	1479973	158299162	90951459	5	6962										
LY9	4063	broad.mit.edu	37	chr1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggttccgtgactctcccccTaaacatctcagtagacacag	8	14	2	2			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_ENST00000368037.5_Missense_Mutation_p.L67P|LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR			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																																						ENST00000368037.5																			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		Somatic				LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000263285.6_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR	p.L67P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	314	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)					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	3	76	---	---	---	---	C	160769618	T	C	160769618	3	2	156	1	0	0	0	0	1	0	0	0	9101	1522	53	2	206	2	LY9	1	160769618	Missense_Mutation	SNP	T	TCGA-HC-7079-01A-11D-1961-08	2470456	160769618	88481003	6	6963										
EPHA6	285220	broad.mit.edu	37	chr3	96533589	96533589	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgccctgttcccgggacctCgcgcagggggcgccccggga	17	16	0	0			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.chr3:96533589C>A	ENST00000389672.5	+	1	160	c.122C>A	c.(121-123)tCg>tAg	p.S41*	EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*|EPHA6_ENST00000542517.1_5'Flank	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					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						CCCGGGACCTCGCGCAGGGGG	0.716																																						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.(121-123)tCg>tAg		EPH receptor A6							9	12	11					3																	96533589		1897	4100	5997	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533589C>A	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.122C>A	3.37:g.96533589C>A	ENSP00000374323:p.Ser41*		Somatic				EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*	p.S41*	NM_001080448.2	NP_001073917.2	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			1	160	+			0			Ephrin-binding.		D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	c.122C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450899	0.98292	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.676	0.62454	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000374323:S41X	S	+	2	0	EPHA6	98016279	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.397000	0.34543	2.268000	0.75426	0.585000	0.79938	TCG		0.716	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		3	36	3	36	---	---	---	---	A	96533589	C	A	96533589	4	1	156	1	0	0	0	0	0	1	0	0	5171	893	31	3	124	3	EPHA6	3	96533589	Nonsense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08		96533589	101488841	7	6964										
ADRB2	154	broad.mit.edu	37	chr5	148206902	148206902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttacctccttcttgcccattCagatgcactggtaccgggcc	8	15	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.chr5:148206902C>A	ENST00000305988.4	+	1	747	c.508C>A	c.(508-510)Cag>Aag	p.Q170K		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	170					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)			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)	CTTGCCCATTCAGATGCACTG	0.527																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(508-510)Cag>Aag		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)						170	155	160					5																	148206902		2203	4300	6503	SO:0001583	missense	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.chr5:148206902C>A	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.508C>A	5.37:g.148206902C>A	ENSP00000305372:p.Gln170Lys		Somatic					p.Q170K	NM_000024.5	NP_000015	WXS	Illumina GAIIx	Phase_I	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	747	+			170					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.508C>A	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462500	0.26248	.	.	ENSG00000169252	ENST00000305988	T	0.71817	-0.6	5.65	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.170714	0.52532	N	0.000068	T	0.59756	0.2217	L	0.42686	1.345	0.39044	D	0.960193	B	0.06786	0.001	B	0.04013	0.001	T	0.56974	-0.7890	10	0.27785	T	0.31	.	9.492	0.38965	0.144:0.7858:0.0:0.0702	.	170	P07550	ADRB2_HUMAN	K	170	ENSP00000305372:Q170K	ENSP00000305372:Q170K	Q	+	1	0	ADRB2	148187095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.048000	0.41278	1.595000	0.50050	0.655000	0.94253	CAG		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		6	162	6	162	---	---	---	---	A	148206902	C	A	148206902	3	1	156	1	0	0	0	0	1	0	0	0	341	827	29	3	510	3	ADRB2	5	148206902	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08		148206902	32708358	8	6965										
AGTPBP1	23287	broad.mit.edu	37	chr9	88211351	88211351	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcttcctgaaccgaatacatGagtggttgcatacctttgaa	9	9	0	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.chr9:88211351G>T	ENST00000357081.3	-	18	2493	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L	AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L743L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	783					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						CCGAATACATGAGTGGTTGCA	0.308																																						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.(2347-2349)ctC>ctA		ATP/GTP binding protein 1							61	59	59					9																	88211351		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:88211351G>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.2349C>A	9.37:g.88211351G>T			Somatic				AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000376083.3_Silent_p.L743L	p.L783L			WXS	Illumina GAIIx	Phase_I	Q9UPW5	CBPC1_HUMAN			18	2493	-			783					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2349C>A																																																																																					0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	39	4	39	---	---	---	---	T	88211351	G	T	88211351	2	4	156	1	0	0	0	0	0	0	0	1	400	1277	45	3		3	AGTPBP1	9	88211351	Silent	SNP	G	TCGA-HC-7079-01A-11D-1961-08		88211351	53002080	9	6966										
NTNG2	84628	broad.mit.edu	37	chr9	135073491	135073491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctggagccgctaccccagcCcgctggaagccaacatcacc	9	19	1	0			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.chr9:135073491C>A	ENST00000393229.3	+	3	1128	c.352C>A	c.(352-354)Ccg>Acg	p.P118T	NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T|NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	118	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)		CTACCCCAGCCCGCTGGAAGC	0.647																																						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.(352-354)Ccg>Acg		netrin G2							78	68	71					9																	135073491		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073491C>A	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.352C>A	9.37:g.135073491C>A	ENSP00000376921:p.Pro118Thr		Somatic				NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T|NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T	p.P118T	NM_032536.2	NP_115925.2	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1128	+			118			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.352C>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208388	0.79240	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.84082	2.675	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85812	0.1380	10	0.31617	T	0.26	.	17.567	0.87922	0.0:1.0:0.0:0.0	.	118	Q96CW9	NTNG2_HUMAN	T	118	ENSP00000376921:P118T;ENSP00000376920:P118T;ENSP00000353888:P118T;ENSP00000361252:P118T	ENSP00000353888:P118T	P	+	1	0	NTNG2	134063312	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.777000	0.85628	2.381000	0.81170	0.561000	0.74099	CCG		0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		4	78	4	78	---	---	---	---	A	135073491	C	A	135073491	3	1	156	1	0	0	0	0	1	0	0	0	10705	623	22	1	358	1	NTNG2	9	135073491	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08	46862140	135073491	6139940	10	6967										
CTNNA3	29119	broad.mit.edu	37	chr10	68526133	68526133	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaagagggactgtcgtatcCaggaaagagtctgacacatg	12	7	1	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.chr10:68526133C>A	ENST00000433211.2	-	9	1344	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	CTNNA3_ENST00000373744.4_Silent_p.L390L	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						CTGTCGTATCCAGGAAAGAGT	0.398																																						ENST00000433211.2																			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.(1168-1170)ctG>ctT		catenin (cadherin-associated protein), alpha 3							137	132	134					10																	68526133		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68526133C>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.1170G>T	10.37:g.68526133C>A			Somatic				CTNNA3_ENST00000373744.4_Silent_p.L390L	p.L390L	NM_013266.2	NP_037398.2	WXS	Illumina GAIIx	Phase_I	Q9UI47	CTNA3_HUMAN			9	1344	-									Silent	SNP	ENST00000433211.2	37	c.1170G>T	CCDS7269.1																																																																																				0.398	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		4	107	4	107	---	---	---	---	A	68526133	C	A	68526133	2	1	156	1	0	0	0	0	0	0	0	1	4014	581	21	1		1	CTNNA3	10	68526133	Silent	SNP	C	TCGA-HC-7079-01A-11D-1961-08		68526133	67008614	11	6968										
PANK1	53354	broad.mit.edu	37	chr10	91404822	91404822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccctcctcctgccgactcccCcacctcctctgcgccctgcc	5	26	1	0			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.chr10:91404822C>A	ENST00000307534.4	-	1	393	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W	RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000342512.3_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	80					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						GCCGACTCCCCCACCTCCTCT	0.771																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(238-240)Ggg>Tgg		pantothenate kinase 1	Bezafibrate(DB01393)						8	11	10					10																	91404822		1956	4107	6063	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404822C>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.238G>T	10.37:g.91404822C>A	ENSP00000302108:p.Gly80Trp		Somatic					p.G80W	NM_148977.2	NP_683878.1	WXS	Illumina GAIIx	Phase_I	Q8TE04	PANK1_HUMAN			1	393	-			80					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.238G>T	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452174	0.26074	.	.	ENSG00000152782	ENST00000307534	D	0.99619	-6.28	4.29	-0.176	0.13311	.	0.140778	0.32901	N	0.005508	D	0.97526	0.9190	N	0.19112	0.55	0.22779	N	0.998746	D	0.54047	0.964	P	0.47626	0.552	D	0.95548	0.8618	10	0.87932	D	0	.	3.8875	0.09105	0.0:0.413:0.1801:0.4069	.	80	Q8TE04	PANK1_HUMAN	W	80	ENSP00000302108:G80W	ENSP00000302108:G80W	G	-	1	0	PANK1	91394802	0.008000	0.16893	0.025000	0.17156	0.002000	0.02628	0.090000	0.15025	0.094000	0.17404	-0.258000	0.10820	GGG		0.771	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	46	4	46	---	---	---	---	A	91404822	C	A	91404822	3	1	156	1	0	0	0	0	1	0	0	0	11416	623	22	1	1618	1	PANK1	10	91404822	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08	22878689	91404822	44129925	12	6969										
IQSEC3	440073	broad.mit.edu	37	chr12	247627	247627	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acggccgagagcctggcggcCgagaaagcgctcatggaggg	18	11	1	2			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.chr12:247627C>A	ENST00000538872.1	+	4	1216	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	IQSEC3_ENST00000326261.4_Silent_p.A366A|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	366					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)		GCCTGGCGGCCGAGAAAGCGC	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.(1096-1098)gcC>gcA		IQ motif and Sec7 domain 3							16	17	17					12																	247627		2197	4296	6493	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247627C>A	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.1098C>A	12.37:g.247627C>A			Somatic				IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A366A	p.A366A			WXS	Illumina GAIIx	Phase_I	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1216	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		366					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1098C>A	CCDS53728.1																																																																																				0.692	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	18	3	18	---	---	---	---	A	247627	C	A	247627	2	1	156	1	0	0	0	0	0	0	0	1	7819	639	23	1		1	IQSEC3	12	247627	Silent	SNP	C	TCGA-HC-7079-01A-11D-1961-08		247627	133604268	13	6970										
CBLN3	643866	broad.mit.edu	37	chr14	24897522	24897522	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggcggttgtacaccttcacCacatggaaccggaagctgta	11	11	1	0			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.chr14:24897522C>A	ENST00000267406.6	-	2	860	c.390G>T	c.(388-390)gtG>gtT	p.V130V	KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank|CBLN3_ENST00000555436.1_Silent_p.V79V	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	130	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACACCTTCACCACATGGAACC	0.652																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(388-390)gtG>gtT		cerebellin 3 precursor							97	107	103					14																	24897522		2203	4300	6503	SO:0001819	synonymous_variant	643866					cell junction|extracellular region|synapse		g.chr14:24897522C>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.390G>T	14.37:g.24897522C>A			Somatic				CBLN3_ENST00000555436.1_Silent_p.V79V	p.V130V	NM_001039771.2	NP_001034860.1	WXS	Illumina GAIIx	Phase_I	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	860	-			130			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Silent	SNP	ENST00000267406.6	37	c.390G>T	CCDS32057.1																																																																																				0.652	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		6	209	6	209	---	---	---	---	A	24897522	C	A	24897522	2	1	156	1	0	0	0	0	0	0	0	1	2706	581	21	1		1	CBLN3	14	24897522	Silent	SNP	C	TCGA-HC-7079-01A-11D-1961-08		24897522	82452018	14	6971										
ZFP106	64397	broad.mit.edu	37	chr15	42740783	42740783	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgctttcttgccaagccaggGgacgaggaaatggaaacacc	12	11	1	0			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.chr15:42740783G>T	ENST00000263805.4	-	3	2879	c.2553C>A	c.(2551-2553)tcC>tcA	p.S851S	ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	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	851					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)										CCAAGCCAGGGGACGAGGAAA	0.488																																						ENST00000263805.4																			0											c.(2551-2553)tcC>tcA		zinc finger protein 106							60	56	57					15																	42740783		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42740783G>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.2553C>A	15.37:g.42740783G>T			Somatic				ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	p.S851S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	WXS	Illumina GAIIx	Phase_I					3	2879	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.2553C>A	CCDS32208.1																																																																																				0.488	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		4	53	4	53	---	---	---	---	T	42740783	G	T	42740783	2	4	156	1	0	0	0	0	0	0	0	1	17634	1219	43	1		1	ZFP106	15	42740783	Silent	SNP	G	TCGA-HC-7079-01A-11D-1961-08		42740783	59790609	15	6972										
TMX3	54495	broad.mit.edu	37	chr18	66344377	66344377	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacatgatactgatgacaccCagtggcaggccaaagagaaa	10	10	0	4			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.chr18:66344377C>A	ENST00000299608.2	-	16	1474	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	386					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						TGATGACACCCAGTGGCAGGC	0.413																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1156-1158)ctG>ctT		thioredoxin-related transmembrane protein 3							115	112	113					18																	66344377		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:66344377C>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.1158G>T	18.37:g.66344377C>A			Somatic					p.L386L	NM_019022.3	NP_061895.3	WXS	Illumina GAIIx	Phase_I	Q96JJ7	TMX3_HUMAN			16	1474	-			386					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	c.1158G>T	CCDS32840.1																																																																																				0.413	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		4	96	4	96	---	---	---	---	A	66344377	C	A	66344377	2	1	156	1	0	0	0	0	0	0	0	1	16265	581	21	1		1	TMX3	18	66344377	Silent	SNP	C	TCGA-HC-7079-01A-11D-1961-08		66344377	11732871	16	6973										
GATAD2A	54815	broad.mit.edu	37	chr19	19616251	19616251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcctggacatgatcccacccCgctccatcccccagtcagcc	6	21	1	1	rs200707525	byFrequency	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.chr19:19616251C>A	ENST00000360315.3	+	12	2182	c.1870C>A	c.(1870-1872)Cgc>Agc	p.R624S	GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000404158.1_Missense_Mutation_p.R625S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	624					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						GATCCCACCCCGCTCCATCCC	0.667																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1873-1875)Cgc>Agc		GATA zinc finger domain containing 2A							87	76	79					19																	19616251		2203	4300	6503	SO:0001583	missense	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.chr19:19616251C>A	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.1870C>A	19.37:g.19616251C>A	ENSP00000353463:p.Arg624Ser		Somatic				GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S	p.R625S			WXS	Illumina GAIIx	Phase_I	Q86YP4	P66A_HUMAN			14	2291	+			624					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1873C>A	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.949651|4.949651	0.92660|0.92660	.|.	.|.	ENSG00000167491|ENSG00000167491	ENST00000418032|ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	.|T;T;T;T	.|0.56103	.|0.69;0.97;0.69;0.48	5.2|5.2	4.17|4.17	0.49024|0.49024	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69788|0.69788	0.3150|0.3150	M|M	0.71581|0.71581	2.175|2.175	0.49687|0.49687	D|D	0.999817|0.999817	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.997;0.998;0.997	T|T	0.73244|0.73244	-0.4044|-0.4044	6|10	0.37606|0.87932	T|D	0.19|0	-27.983|-27.983	12.4985|12.4985	0.55942|0.55942	0.0:0.9187:0.0:0.0812|0.0:0.9187:0.0:0.0812	.|.	.|427;644;624	.|B4DKZ7;B5MC40;Q86YP4	.|.;.;P66A_HUMAN	Q|S	225|624;599;253;644;624;427	.|ENSP00000353463:R624S;ENSP00000252577:R599S;ENSP00000351552:R624S;ENSP00000388416:R427S	ENSP00000411869:P225Q|ENSP00000252577:R599S	P|R	+|+	2|1	0|0	GATAD2A|GATAD2A	19477251|19477251	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.988000|0.988000	0.76386|0.76386	4.804000|4.804000	0.62554|0.62554	1.218000|1.218000	0.43458|0.43458	0.558000|0.558000	0.71614|0.71614	CCG|CGC		0.667	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	134	4	134	---	---	---	---	A	19616251	C	A	19616251	3	1	156	1	0	0	0	0	1	0	0	0	6260	652	23	1	1912	1	GATAD2A	19	19616251	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08		19616251	39512732	17	6974										
ZSCAN1	284312	broad.mit.edu	37	chr19	58551895	58551895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgggaagagtccaaggtccCagaaagaaccatcgcaggtg	13	9	0	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.chr19:58551895C>A	ENST00000282326.1	+	4	695	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	150					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)		TCCAAGGTCCCAGAAAGAACC	0.627																																						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.(448-450)Cag>Aag		zinc finger and SCAN domain containing 1							93	100	98					19																	58551895		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551895C>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.448C>A	19.37:g.58551895C>A	ENSP00000282326:p.Gln150Lys		Somatic					p.Q150K	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	695	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.448C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983634	0.18889	.	.	ENSG00000152467	ENST00000282326	T	0.03772	3.81	1.09	1.09	0.20402	.	.	.	.	.	T	0.02012	0.0063	N	0.19112	0.55	0.58432	D	0.999999	P	0.44090	0.826	B	0.34652	0.187	T	0.51356	-0.8716	9	0.06099	T	0.92	.	5.5387	0.17026	0.0:1.0:0.0:0.0	.	150	Q8NBB4	ZSCA1_HUMAN	K	150	ENSP00000282326:Q150K	ENSP00000282326:Q150K	Q	+	1	0	ZSCAN1	63243707	0.030000	0.19436	0.890000	0.34922	0.796000	0.44982	0.058000	0.14301	0.896000	0.36366	0.313000	0.20887	CAG		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		5	125	5	125	---	---	---	---	A	58551895	C	A	58551895	3	1	156	1	0	0	0	0	1	0	0	0	18223	595	21	1	454	1	ZSCAN1	19	58551895	Missense_Mutation	SNP	C	TCGA-HC-7079-01A-11D-1961-08	38935644	58551895	577088	18	6975										
GATA1	2623	broad.mit.edu	37	chrX	48650528	48650528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatagtgcttatgggggcccTgacttttccagtaccttctt	9	10	1	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.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			Somatic				GATA1_ENST00000376665.3_Silent_p.P166P	p.P166P	NM_002049.3	NP_002040.1	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	C	48650528	T	C	48650528	2	2	156	1	0	0	0	0	0	0	0	1	6253	1567	55	2		2	GATA1	23	48650528	Silent	SNP	T	TCGA-HC-7079-01A-11D-1961-08		48650528	106620032	19	6976										
CDK11B	8510	broad.mit.edu	37	chr1	1572563	1572563	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcatcagggtcttcacctcCcctgggagggagggaagctc	13	12	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.chr1:1572563C>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G|CDK11B_ENST00000407249.3_Splice_Site_p.G527G			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	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)|Lung SC(97;0.128)		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)	Marimastat(DB00786)	TCTTCACCTCCCCTGGGAGGG	0.642																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1579-1581)ggG>ggT		cyclin-dependent kinase 11B							59	71	67					1																	1572563		2093	4238	6331	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572563C>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572563C>A			Somatic				CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G	p.G527G			WXS	Illumina GAIIx	Phase_I	P21127	CD11B_HUMAN			16	1580	-			537			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Splice_Site	SNP	ENST00000356026.5	37	c.1581G>T	CCDS30559.1																																																																																				0.642	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		4	33	4	33	---	---	---	---	A	1572563	C	A	1572563	1	1	157	0	1	0	0	0	0	0	0	0	3127	637	22	1		1	CDK11B	1	1572563	IGR	SNP	C	TCGA-HC-7080-01A-11D-1961-08		1572563	247678058	1	6977										
PER3	8863	broad.mit.edu	37	chr1	7844947	7844947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagacctcgagatgccccgcGgggaagctcctggccccggg	16	15	0	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.chr1:7844947G>T	ENST00000361923.2	+	1	185	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000377532.3_Missense_Mutation_p.G4W	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	4					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)		GATGCCCCGCGGGGAAGCTCC	0.667																																						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.(10-12)Ggg>Tgg		period circadian clock 3							8	12	11					1																	7844947		2166	4251	6417	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7844947G>T	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.10G>T	1.37:g.7844947G>T	ENSP00000355031:p.Gly4Trp		Somatic				PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000361923.2_Missense_Mutation_p.G4W	p.G4W			WXS	Illumina GAIIx	Phase_I	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)	1	234	+	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)	4					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.10G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792985	0.31685	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.34667	1.35;2.79;2.79	2.78	-4.31	0.03698	.	3.804840	0.01371	U	0.012565	T	0.44371	0.1290	L	0.36672	1.1	0.09310	N	1	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	P;P;D;P	0.67103	0.867;0.867;0.949;0.891	T	0.49370	-0.8947	10	0.87932	D	0	.	4.6396	0.12541	0.4554:0.3192:0.2254:0.0	.	4;4;4;4	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	W	4	ENSP00000366764:G4W;ENSP00000366755:G4W;ENSP00000355031:G4W	ENSP00000355031:G4W	G	+	1	0	PER3	7767534	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.015000	0.03637	-1.170000	0.02769	0.555000	0.69702	GGG		0.667	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		4	17	4	17	---	---	---	---	T	7844947	G	T	7844947	3	4	157	1	0	0	0	0	1	0	0	0	11731	1116	39	1	12	1	PER3	1	7844947	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	6272384	7844947	241405674	2	6978										
TNFRSF8	943	broad.mit.edu	37	chr1	12157182	12157182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttcccgacacagcagtgccCacagaggcctactgactgca	10	15	0	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.chr1:12157182C>A	ENST00000263932.2	+	3	398	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	59					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)	CAGCAGTGCCCACAGAGGCCT	0.572																																						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.(175-177)cCa>cAa		tumor necrosis factor receptor superfamily, member 8							103	95	98					1																	12157182		2203	4300	6503	SO:0001583	missense	943				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.chr1:12157182C>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.176C>A	1.37:g.12157182C>A	ENSP00000263932:p.Pro59Gln		Somatic				TNFRSF8_ENST00000417814.2_5'UTR	p.P59Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	WXS	Illumina GAIIx	Phase_I	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)	3	398	+	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)	59					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.176C>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739637	0.15642	.	.	ENSG00000120949	ENST00000263932	D	0.91011	-2.77	3.91	2.82	0.32997	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.47455	D	0.000237	D	0.89403	0.6705	L	0.34521	1.04	0.28247	N	0.925449	D	0.76494	0.999	D	0.73708	0.981	T	0.80402	-0.1397	10	0.13853	T	0.58	-16.3884	7.4627	0.27304	0.0:0.8669:0.0:0.1331	.	59	P28908	TNR8_HUMAN	Q	59	ENSP00000263932:P59Q	ENSP00000263932:P59Q	P	+	2	0	TNFRSF8	12079769	0.551000	0.26497	0.292000	0.24919	0.014000	0.08584	1.185000	0.32065	1.042000	0.40150	0.655000	0.94253	CCA		0.572	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			5	110	5	110	---	---	---	---	A	12157182	C	A	12157182	3	1	157	1	0	0	0	0	1	0	0	0	16296	594	21	1	186	1	TNFRSF8	1	12157182	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	4312235	12157182	237093439	3	6979										
ARID1A	8289	broad.mit.edu	37	chr1	27058091	27058091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcagcgcttccctccacCgcaggtaagatatccctgcc	8	18	0	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.chr1:27058091C>A	ENST00000324856.7	+	3	2170	c.1799C>A	c.(1798-1800)cCg>cAg	p.P600Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	600					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)		TTCCCTCCACCGCAGGTAAGA	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.(1798-1800)cCg>cAg		AT rich interactive domain 1A (SWI-like)							84	80	81					1																	27058091		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.chr1:27058091C>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.1799C>A	1.37:g.27058091C>A	ENSP00000320485:p.Pro600Gln		Somatic				ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	p.P600Q	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	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)	3	2170	+		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)	600					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1799C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655605	0.67586	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02472	4.54;4.28;4.34	5.31	5.31	0.75309	.	0.054878	0.64402	D	0.000001	T	0.07143	0.0181	N	0.20401	0.57	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.69142	0.916;0.962;0.953	T	0.59637	-0.7417	10	0.17369	T	0.5	-6.2647	19.1625	0.93539	0.0:1.0:0.0:0.0	.	600;600;254	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Q	600;600;217	ENSP00000320485:P600Q;ENSP00000387636:P600Q;ENSP00000363267:P217Q	ENSP00000320485:P600Q	P	+	2	0	ARID1A	26930678	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.976000	0.63785	2.755000	0.94549	0.563000	0.77884	CCG		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	162	6	162	---	---	---	---	A	27058091	C	A	27058091	3	1	157	1	0	0	0	0	1	0	0	0	913	652	23	1	1809	1	ARID1A	1	27058091	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	14900909	27058091	222192530	4	6980										
IQCC	55721	broad.mit.edu	37	chr1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctgcactctatgaggacTcaaatattaaggagatgtct	9	7	4	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.chr1:32673327T>C	ENST00000291358.6	+	5	1066	c.1045T>C	c.(1045-1047)Tca>Cca	p.S349P	RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|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		Somatic				IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	p.S429P	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	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	3	151	---	---	---	---	C	32673327	T	C	32673327	3	2	157	1	0	0	0	0	1	0	0	0	7804	1551	54	2	1303	2	IQCC	1	32673327	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08	5615236	32673327	216577294	5	6981										
ZSCAN20	7579	broad.mit.edu	37	chr1	33960126	33960126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagctcccacttcattgccCatcagcgaatccacacaggt	8	15	2	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.chr1:33960126C>A	ENST00000361328.3	+	8	2335	c.2182C>A	c.(2182-2184)Cat>Aat	p.H728N		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	728					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTCATTGCCCATCAGCGAAT	0.463																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2182-2184)Cat>Aat		zinc finger and SCAN domain containing 20							94	103	100					1																	33960126		2153	4289	6442	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960126C>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2182C>A	1.37:g.33960126C>A	ENSP00000355053:p.His728Asn		Somatic					p.H728N	NM_145238.3	NP_660281	WXS	Illumina GAIIx	Phase_I	P17040	ZSC20_HUMAN			8	2335	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	728					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2182C>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705158	0.48412	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.195131	0.36167	N	0.002748	D	0.87148	0.6105	H	0.96015	3.755	0.41420	D	0.987792	D;P	0.59357	0.985;0.95	P;D	0.65233	0.844;0.933	D	0.90858	0.4736	9	0.87932	D	0	-12.6558	17.4589	0.87615	0.0:1.0:0.0:0.0	.	727;728	P17040-3;P17040	.;ZSC20_HUMAN	N	728;662;662	.	ENSP00000324450:H728N	H	+	1	0	ZSCAN20	33732713	1.000000	0.71417	0.066000	0.19879	0.002000	0.02628	7.800000	0.85949	2.786000	0.95864	0.561000	0.74099	CAT		0.463	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		6	155	6	155	---	---	---	---	A	33960126	C	A	33960126	3	1	157	1	0	0	0	0	1	0	0	0	18229	594	21	1	2208	1	ZSCAN20	1	33960126	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	1286799	33960126	215290495	6	6982										
KIAA0754	643314	broad.mit.edu	37	chr1	39879530	39879530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggaggaacccacttcccCggcagcttcagtgcccaccc	9	19	1	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.chr1:39879530C>A	ENST00000530275.1	+	1	3380	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1062	Ala-rich.									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)			CCCACTTCCCCGGCAGCTTCA	0.642																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(3184-3186)cCg>cAg		KIAA0754							17	20	19					1																	39879530		1944	4140	6084	SO:0001583	missense	643314							g.chr1:39879530C>A			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.3185C>A	1.37:g.39879530C>A	ENSP00000431179:p.Pro1062Gln		Somatic				MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	p.P1062Q	NM_015038.1	NP_055853.1	WXS	Illumina GAIIx	Phase_I	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	3380	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1062			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3185C>A		.	.	.	.	.	.	.	.	.	.	c	10.95	1.496911	0.26861	.	.	ENSG00000255103	ENST00000530275	T	0.37752	1.18	2.52	0.387	0.16259	.	.	.	.	.	T	0.29588	0.0738	N	0.14661	0.345	0.09310	N	1	D	0.57257	0.979	P	0.54706	0.759	T	0.19160	-1.0314	9	0.38643	T	0.18	.	6.7125	0.23284	0.1741:0.7042:0.0:0.1217	.	1062	O94854	K0754_HUMAN	Q	1062	ENSP00000431179:P1062Q	ENSP00000431179:P1062Q	P	+	2	0	RP4-562N20.1	39652117	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.193000	0.03049	-0.580000	0.05944	-1.021000	0.02439	CCG		0.642	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		3	31	3	31	---	---	---	---	A	39879530	C	A	39879530	3	1	157	1	0	0	0	0	1	0	0	0	8192	652	23	1	3595	1	KIAA0754	1	39879530	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	5919404	39879530	209371091	7	6983										
COL11A1	1301	broad.mit.edu	37	chr1	103387099	103387099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccattgggaccttgagggCctcttgggcctggaggacca	14	12	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.chr1:103387099C>A	ENST00000370096.3	-	48	3995	c.3683G>T	c.(3682-3684)gGc>gTc	p.G1228V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1240V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1228	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)		ACCTTGAGGGCCTCTTGGGCC	0.368																																						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.(3718-3720)gGc>gTc		collagen, type XI, alpha 1							73	85	81					1																	103387099		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.chr1:103387099C>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.3683G>T	1.37:g.103387099C>A	ENSP00000359114:p.Gly1228Val		Somatic				COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1228V	p.G1240V	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	48	4036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1228			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3719G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137490	0.56936	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97209	-4.29;-4.21;-4.29;-4.29	5.22	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	H	0.98314	4.2	0.80722	D	1	B;D;B;B;B	0.89917	0.013;1.0;0.049;0.029;0.04	B;D;B;B;B	0.97110	0.013;1.0;0.058;0.026;0.03	D	0.99157	1.0860	10	0.87932	D	0	.	14.1515	0.65387	0.1514:0.8486:0.0:0.0	.	1112;1189;1240;1228;448	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1228;1240;1189;448;1112	ENSP00000359114:G1228V;ENSP00000351163:G1240V;ENSP00000302551:G1189V;ENSP00000426533:G1112V	ENSP00000302551:G1189V	G	-	2	0	COL11A1	103159687	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.364000	0.79526	1.308000	0.44962	0.655000	0.94253	GGC		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	225	5	225	---	---	---	---	A	103387099	C	A	103387099	3	1	157	1	0	0	0	0	1	0	0	0	3667	739	26	3	1817	3	COL11A1	1	103387099	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	63507569	103387099	145863522	8	6984										
SLC16A4	9122	broad.mit.edu	37	chr1	110921517	110921517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcatccatgatgtcaatccCcagtgttttggctctggcta	10	11	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.chr1:110921517C>A	ENST00000369779.4	-	6	1237	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000497687.1_5'Flank	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330					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)	ATGTCAATCCCCAGTGTTTTG	0.413																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(988-990)Ggg>Tgg		solute carrier family 16, member 4	Pyruvic acid(DB00119)						108	105	106					1																	110921517		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921517C>A	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.988G>T	1.37:g.110921517C>A	ENSP00000358794:p.Gly330Trp		Somatic				SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000369781.4_Intron	p.G330W	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	WXS	Illumina GAIIx	Phase_I	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)	6	1237	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	330					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.988G>T	CCDS823.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.213044	0.79352	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.99	4.08	0.47627	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367376	0.34156	N	0.004216	D	0.92309	0.7560	M	0.90082	3.085	0.46564	D	0.999108	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.92859	0.6304	10	0.87932	D	0	.	10.2368	0.43288	0.0:0.7928:0.1359:0.0712	.	220;268;282;330	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	W	330;282;220;268;97	ENSP00000358794:G330W;ENSP00000432495:G282W;ENSP00000394790:G220W;ENSP00000446087:G268W;ENSP00000435768:G97W	ENSP00000358794:G330W	G	-	1	0	SLC16A4	110723040	1.000000	0.71417	0.461000	0.27105	0.925000	0.55904	3.067000	0.50010	0.831000	0.34780	0.651000	0.88453	GGG		0.413	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		5	111	5	111	---	---	---	---	A	110921517	C	A	110921517	3	1	157	1	0	0	0	0	1	0	0	0	14410	623	22	1	491	1	SLC16A4	1	110921517	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	7534418	110921517	138329104	9	6985										
CD101	9398	broad.mit.edu	37	chr1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctcctacttacaagctaagCtcagcattggccagagagaa	8	11	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	28	39	---	---	---	---	T	117552477	C	T	117552477	3	4	157	1	0	0	0	0	1	0	0	0	2962	797	28	2	55	2	CD101	1	117552477	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	6630960	117552477	131698144	10	6986										
NUP210L	91181	broad.mit.edu	37	chr1	153965386	153965386	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtagactcatgaagtgaggGggagaacttgtggagttaaa	15	3	1	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.chr1:153965386G>T	ENST00000368559.3	-	40	5663	c.5592C>A	c.(5590-5592)ccC>ccA	p.P1864P	NUP210L_ENST00000368553.1_Silent_p.P645P|NUP210L_ENST00000271854.3_Silent_p.P1712P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1864				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). {ECO:0000305}.	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)			TGAAGTGAGGGGGAGAACTTG	0.423																																						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.(5590-5592)ccC>ccA		nucleoporin 210kDa-like							170	167	168					1																	153965386		1856	4096	5952	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153965386G>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.5592C>A	1.37:g.153965386G>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.P1712P|NUP210L_ENST00000368553.1_Silent_p.P645P	p.P1864P	NM_207308.2	NP_997191.2	WXS	Illumina GAIIx	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		40	5663	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1864	FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).				E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.5592C>A	CCDS41399.1																																																																																				0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		8	418	8	418	---	---	---	---	T	153965386	G	T	153965386	2	4	157	1	0	0	0	0	0	0	0	1	10761	1219	43	1		1	NUP210L	1	153965386	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	36412909	153965386	95285235	11	6987										
OBSCN	84033	broad.mit.edu	37	chr1	228482724	228482724	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgcgggcaggagaggacctCggccacactcaccgtcaggg	16	13	2	1	rs368907625		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.chr1:228482724C>A	ENST00000422127.1	+	43	11683	c.11639C>A	c.(11638-11640)tCg>tAg	p.S3880*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.S4309*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3880	Ig-like 39.				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)				GAGAGGACCTCGGCCACACTC	0.587																																						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.(12925-12927)tCg>tAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							108	109	109					1																	228482724		2138	4236	6374	SO:0001587	stop_gained	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.chr1:228482724C>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.11639C>A	1.37:g.228482724C>A	ENSP00000409493:p.Ser3880*		Somatic				OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*	p.S4309*	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			48	13000	+		Prostate(94;0.0405)	3352			Ig-like 44.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.12926C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	62	69.457041	0.99992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	5.01	3.04	0.35103	.	0.326183	0.26478	N	0.024151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9791	0.53109	0.1362:0.7327:0.131:0.0	.	.	.	.	X	3880;3880;999;999;2727	.	ENSP00000284548:S3880X	S	+	2	0	OBSCN	226549347	0.000000	0.05858	0.021000	0.16686	0.517000	0.34286	0.014000	0.13333	1.328000	0.45358	0.563000	0.77884	TCG		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	136	4	136	---	---	---	---	A	228482724	C	A	228482724	4	1	157	1	0	0	0	0	0	1	0	0	10812	893	31	3	11805	3	OBSCN	1	228482724	Nonsense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	74517338	228482724	20767897	12	6988										
SIPA1L2	57568	broad.mit.edu	37	chr1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcctgtctggcccgtaggCatctgagtctgggatgctgc	14	11	3	1	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		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I	p.M369I			WXS	Illumina GAIIx	Phase_I	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	6	139	---	---	---	---	T	232649979	C	T	232649979	3	4	157	1	0	0	0	0	1	0	0	0	14330	710	25	2	4145	2	SIPA1L2	1	232649979	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	4167255	232649979	16600642	13	6989										
SPTBN1	6711	broad.mit.edu	37	chr2	54826279	54826279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccaagtgggtcaattccCaccttgcccgtgtgtcctgc	9	15	2	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.chr2:54826279C>A	ENST00000356805.4	+	3	480	c.199C>A	c.(199-201)Cac>Aac	p.H67N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.H54N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	67	Actin-binding.|CH 1. {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)			GGTCAATTCCCACCTTGCCCG	0.537																																						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.(160-162)Cac>Aac		spectrin, beta, non-erythrocytic 1							173	141	152					2																	54826279		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54826279C>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.199C>A	2.37:g.54826279C>A	ENSP00000349259:p.His67Asn		Somatic				SPTBN1_ENST00000356805.4_Missense_Mutation_p.H67N	p.H54N	NM_178313.2	NP_842565.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	545	+			67			Actin-binding.|CH 1.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.160C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330301	0.95733	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.95272	-0.03;-0.03;-3.66	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.82323	2.585	0.80722	D	1	P;D	0.56287	0.918;0.975	P;D	0.64776	0.774;0.929	D	0.97318	0.9942	10	0.66056	D	0.02	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	54;67	Q01082-3;Q01082	.;SPTB2_HUMAN	N	67;67;54	ENSP00000349259:H67N;ENSP00000374630:H67N;ENSP00000334156:H54N	ENSP00000334156:H54N	H	+	1	0	SPTBN1	54679783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.824000	0.97209	0.655000	0.94253	CAC		0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			6	134	6	134	---	---	---	---	A	54826279	C	A	54826279	3	1	157	1	0	0	0	0	1	0	0	0	15118	594	21	1	318	1	SPTBN1	2	54826279	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		54826279	188373094	14	6990										
AFF3	3899	broad.mit.edu	37	chr2	100203740	100203740	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagtcgtcttcgttgtcacActgtatgggaataaactaaa	9	7	2	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.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000409579.1_Splice_Site_p.C848R|AFF3_ENST00000356421.2_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																																						ENST00000409236.2																			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.(2467-2469)Tgt>Cgt		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			Somatic				AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R|AFF3_ENST00000409579.1_Splice_Site_p.C848R	p.C823R			WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			14	2579	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.2467T>C	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	66	95	---	---	---	---	G	100203740	A	G	100203740	5	3	157	1	0	0	0	0	0	0	1	0	358	173	6	2	1253	2	AFF3	2	100203740	Splice_Site	SNP	A	TCGA-HC-7080-01A-11D-1961-08	45377461	100203740	142995633	15	6991										
TMEM177	80775	broad.mit.edu	37	chr2	120438841	120438841	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcggagcccagcaggcgccCggctgagagcttccctgacc	15	16	0	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.chr2:120438841C>A	ENST00000424086.1	+	2	885	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	138						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)					AGCAGGCGCCCGGCTGAGAGC	0.602																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Cgg>Agg		transmembrane protein 177							112	130	124					2																	120438841		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120438841C>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.412C>A	2.37:g.120438841C>A			Somatic				TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	p.R138R	NM_001105198.1	NP_001098668.1	WXS	Illumina GAIIx	Phase_I	Q53S58	TM177_HUMAN			2	885	+	Colorectal(110;0.196)		138					Q9BT20	Silent	SNP	ENST00000424086.1	37	c.412C>A	CCDS2128.1																																																																																				0.602	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		5	177	5	177	---	---	---	---	A	120438841	C	A	120438841	2	1	157	1	0	0	0	0	0	0	0	1	16091	643	23	1		1	TMEM177	2	120438841	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	20235101	120438841	122760532	16	6992										
SSB	6741	broad.mit.edu	37	chr2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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)tccfs		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		Somatic				SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron	p.S325fs			WXS	Illumina GAIIx	Phase_I	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	157	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	50228690	170667531	72531842	17	6993										
MARS2	92935	broad.mit.edu	37	chr2	198571628	198571628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagctgaactgggagagccCagtggatgctccctggctgg	16	10	0	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.chr2:198571628C>A	ENST00000282276.6	+	1	1542	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	500					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)			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)	TGGGAGAGCCCAGTGGATGCT	0.542																																						ENST00000282276.6																			0				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.(1498-1500)cCa>cAa		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						121	120	121					2																	198571628		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571628C>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.1499C>A	2.37:g.198571628C>A	ENSP00000282276:p.Pro500Gln		Somatic				AC011997.1_ENST00000409845.1_Intron	p.P500Q	NM_138395.3	NP_612404.1	WXS	Illumina GAIIx	Phase_I	Q96GW9	SYMM_HUMAN			1	1542	+			500					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.1499C>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610790	0.28712	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.47528	0.84	4.89	3.93	0.45458	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.681105	0.14783	N	0.298684	T	0.40094	0.1103	L	0.53561	1.675	0.27829	N	0.941507	B	0.33919	0.432	B	0.31751	0.135	T	0.40850	-0.9541	10	0.59425	D	0.04	-7.7741	7.2784	0.26297	0.0:0.8789:0.0:0.1211	.	500	Q96GW9	SYMM_HUMAN	Q	500;427	ENSP00000282276:P500Q	ENSP00000282276:P500Q	P	+	2	0	MARS2	198279873	0.003000	0.15002	0.970000	0.41538	0.985000	0.73830	1.107000	0.31110	2.532000	0.85374	0.655000	0.94253	CCA		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		6	189	6	189	---	---	---	---	A	198571628	C	A	198571628	3	1	157	1	0	0	0	0	1	0	0	0	9317	594	21	1	1501	1	MARS2	2	198571628	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	27904097	198571628	44627745	18	6994										
PLEKHM3	389072	broad.mit.edu	37	chr2	208866226	208866226	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttactgagtacctcatgcccCaccagttcagggacttcctg	8	14	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.chr2:208866226C>A	ENST00000427836.2	-	2	627	c.138G>T	c.(136-138)gtG>gtT	p.V46V	PLEKHM3_ENST00000389247.4_Silent_p.V46V|PLEKHM3_ENST00000457206.1_Silent_p.V46V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	46					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCATGCCCCACCAGTTCAG	0.483																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(136-138)gtG>gtT		pleckstrin homology domain containing, family M, member 3							108	108	108					2																	208866226		1940	4146	6086	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208866226C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.138G>T	2.37:g.208866226C>A			Somatic				PLEKHM3_ENST00000427836.2_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V	p.V46V			WXS	Illumina GAIIx	Phase_I	Q6ZWE6	PKHM3_HUMAN			2	565	-			46					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.138G>T	CCDS42808.1																																																																																				0.483	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		6	161	6	161	---	---	---	---	A	208866226	C	A	208866226	2	1	157	1	0	0	0	0	0	0	0	1	12082	581	21	1		1	PLEKHM3	2	208866226	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	10294598	208866226	34333147	19	6995										
LRRFIP1	9208	broad.mit.edu	37	chr2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggaagcgacaggtccaaGtacagtagacactcaaaatg	10	9	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.chr2:238671963G>A	ENST00000392000.4	+	11	1724	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.S512N|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		Somatic				LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	p.S512N	NM_004735.3	NP_004726.2	WXS	Illumina GAIIx	Phase_I	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	50	70	---	---	---	---	A	238671963	G	A	238671963	3	1	157	1	0	0	0	0	1	0	0	0	9027	1029	36	2	2325	2	LRRFIP1	2	238671963	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	29805737	238671963	4527410	20	6996										
TATDN2	9797	broad.mit.edu	37	chr3	10301992	10301992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggctatccagggcatcctgGggaaatcgatgccaaaaagg	13	9	0	0	rs374060667		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.chr3:10301992G>T	ENST00000287652.4	+	3	1637	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCATCCTGGGGAAATCGAT	0.542																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(586-588)Ggg>Tgg		TatD DNase domain containing 2							53	55	54					3																	10301992		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10301992G>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.586G>T	3.37:g.10301992G>T	ENSP00000287652:p.Gly196Trp		Somatic				TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR	p.G196W	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			3	1637	+			196					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.586G>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953371	0.73902	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.44083	0.93;0.93	4.96	4.96	0.65561	.	0.000000	0.36338	N	0.002657	T	0.61702	0.2368	M	0.66939	2.045	0.47183	D	0.999343	D	0.89917	1.0	D	0.79784	0.993	T	0.64028	-0.6503	10	0.87932	D	0	-36.4744	13.9083	0.63850	0.0:0.0:1.0:0.0	.	196	Q93075	TATD2_HUMAN	W	196	ENSP00000287652:G196W;ENSP00000408736:G196W	ENSP00000287652:G196W	G	+	1	0	TATDN2	10276992	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.387000	0.52501	2.734000	0.93682	0.655000	0.94253	GGG		0.542	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		5	78	5	78	---	---	---	---	T	10301992	G	T	10301992	3	4	157	1	0	0	0	0	1	0	0	0	15589	1232	43	1	592	1	TATDN2	3	10301992	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		10301992	187720438	21	6997										
EPM2AIP1	9852	broad.mit.edu	37	chr3	37034262	37034262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccaagaggcggcagagccCgaggcctgcacgagcagctc	16	14	0	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.chr3:37034262C>A	ENST00000322716.5	-	1	533	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	103					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						CGGCAGAGCCCGAGGCCTGCA	0.667																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(307-309)Ggg>Tgg		EPM2A (laforin) interacting protein 1							68	74	72					3																	37034262		1948	4148	6096	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37034262C>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.307G>T	3.37:g.37034262C>A	ENSP00000406027:p.Gly103Trp		Somatic					p.G103W	NM_014805.3	NP_055620.1	WXS	Illumina GAIIx	Phase_I	Q7L775	EPMIP_HUMAN			1	533	-			103					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.307G>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495499	0.64186	.	.	ENSG00000178567	ENST00000322716	T	0.14266	2.52	5.26	4.37	0.52481	.	.	.	.	.	T	0.19805	0.0476	L	0.36672	1.1	0.32295	N	0.565815	P	0.51791	0.948	P	0.54706	0.759	T	0.02975	-1.1087	9	0.66056	D	0.02	-5.5428	9.9194	0.41455	0.0:0.9062:0.0:0.0938	.	103	Q7L775	EPMIP_HUMAN	W	103	ENSP00000406027:G103W	ENSP00000406027:G103W	G	-	1	0	EPM2AIP1	37009266	0.979000	0.34478	0.998000	0.56505	0.996000	0.88848	2.618000	0.46393	2.735000	0.93741	0.563000	0.77884	GGG		0.667	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		5	145	5	145	---	---	---	---	A	37034262	C	A	37034262	3	1	157	1	0	0	0	0	1	0	0	0	5184	652	23	1	1520	1	EPM2AIP1	3	37034262	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	26732270	37034262	160988168	22	6998										
LTF	4057	broad.mit.edu	37	chr3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtacagcccagaatctatCctcgggggcaccctcgaaaa	10	13	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.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000426532.2_Missense_Mutation_p.R288S|LTF_ENST00000417439.1_Missense_Mutation_p.R332S	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		Somatic				LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	p.R332S	NM_002343.3	NP_002334.2	WXS	Illumina GAIIx	Phase_I	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	30	26	---	---	---	---	A	46491405	C	A	46491405	3	1	157	1	0	0	0	0	1	0	0	0	9079	854	30	3	1176	3	LTF	3	46491405	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	9457143	46491405	151531025	23	6999										
DAG1	1605	broad.mit.edu	37	chr3	49568992	49568992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctccagccattgctcctCcaacagagaccatggctcct	6	17	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.chr3:49568992C>A	ENST00000539901.1	+	3	1606	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T|DAG1_ENST00000545947.1_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	350	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				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)		CATTGCTCCTCCAACAGAGAC	0.602																																						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.(1048-1050)Cca>Aca		dystroglycan 1 (dystrophin-associated glycoprotein 1)							86	86	86					3																	49568992		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.chr3:49568992C>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.1048C>A	3.37:g.49568992C>A	ENSP00000439334:p.Pro350Thr		Somatic				DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000539901.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T	p.P350T	NM_001177634.2	NP_001171105	WXS	Illumina GAIIx	Phase_I	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	1770	+			350			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1048C>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923045	0.52653	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.74	5.74	0.90152	.	0.048809	0.85682	D	0.000000	T	0.36441	0.0967	L	0.35723	1.085	0.48975	D	0.999731	P	0.36027	0.533	B	0.34590	0.186	T	0.07177	-1.0786	9	.	.	.	-11.4638	18.6912	0.91583	0.0:1.0:0.0:0.0	.	350	Q14118	DAG1_HUMAN	T	350	ENSP00000440705:P350T;ENSP00000312435:P350T;ENSP00000442600:P350T;ENSP00000440590:P350T;ENSP00000439334:P350T;ENSP00000438421:P350T	.	P	+	1	0	DAG1	49543996	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.925000	0.48884	2.702000	0.92279	0.655000	0.94253	CCA		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			7	184	7	184	---	---	---	---	A	49568992	C	A	49568992	3	1	157	1	0	0	0	0	1	0	0	0	4225	855	30	3	1054	3	DAG1	3	49568992	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	3077587	49568992	148453438	24	7000										
BBX	56987	broad.mit.edu	37	chr3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaagaaaaagaaattaaaAtggagaaaacagatgaaact	9	2	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.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_ENST00000415149.2_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron			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		Somatic				BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron	p.M342V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	WXS	Illumina GAIIx	Phase_I	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	82	101	---	---	---	---	G	107491592	A	G	107491592	3	3	157	1	0	0	0	0	1	0	0	0	1343	101	4	2	1054	2	BBX	3	107491592	Missense_Mutation	SNP	A	TCGA-HC-7080-01A-11D-1961-08	57922600	107491592	90530838	25	7001										
B4GALT4	8702	broad.mit.edu	37	chr3	118937533	118937533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcttcgcctccccatcccCagtagttgttagagaatcca	7	15	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.chr3:118937533C>A	ENST00000483209.1	-	6	1402	c.761G>T	c.(760-762)tGg>tTg	p.W254L	B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000467604.1_Missense_Mutation_p.W254L			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	254					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)	TCCCCATCCCCAGTAGTTGTT	0.512																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(760-762)tGg>tTg		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						144	137	139					3																	118937533		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.chr3:118937533C>A	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.761G>T	3.37:g.118937533C>A	ENSP00000420161:p.Trp254Leu		Somatic				B4GALT4_ENST00000483209.1_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron	p.W254L			WXS	Illumina GAIIx	Phase_I	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	1152	-			254					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.761G>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502119	0.96371	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93440	0.6793	10	0.87932	D	0	-11.2116	19.2959	0.94122	0.0:1.0:0.0:0.0	.	254	O60513	B4GT4_HUMAN	L	254	ENSP00000420161:W254L;ENSP00000417226:W254L;ENSP00000352144:W254L;ENSP00000377360:W254L	ENSP00000352144:W254L	W	-	2	0	B4GALT4	120420223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.813000	0.96785	0.543000	0.68304	TGG		0.512	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		5	131	5	131	---	---	---	---	A	118937533	C	A	118937533	3	1	157	1	0	0	0	0	1	0	0	0	1273	595	21	1	285	1	B4GALT4	3	118937533	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	11445941	118937533	79084897	26	7002										
EHHADH	1962	broad.mit.edu	37	chr3	184922218	184922218	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttaccaacaacaccaactGaggagacaggccgcgctgat	9	13	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.chr3:184922218G>T	ENST00000231887.3	-	6	971	c.896C>A	c.(895-897)tCa>tAa	p.S299*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	299	3-hydroxyacyl-CoA dehydrogenase.				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)			AACACCAACTGAGGAGACAGG	0.488																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(895-897)tCa>tAa		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						95	89	91					3																	184922218		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922218G>T	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.896C>A	3.37:g.184922218G>T	ENSP00000231887:p.Ser299*		Somatic				EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	p.S299*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	971	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		299			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.896C>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393267	0.96009	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	.	.	.	5.53	4.65	0.58169	.	0.409853	0.25526	N	0.030074	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7771	9.2973	0.37824	0.0783:0.0:0.7783:0.1434	.	.	.	.	X	299;299;203	.	ENSP00000231887:S299X	S	-	2	0	EHHADH	186404912	0.927000	0.31430	0.997000	0.53966	0.272000	0.26649	1.467000	0.35321	2.611000	0.88343	0.650000	0.86243	TCA		0.488	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			5	111	5	111	---	---	---	---	T	184922218	G	T	184922218	4	4	157	1	0	0	0	0	0	1	0	0	4982	1294	45	3	1283	3	EHHADH	3	184922218	Nonsense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	65984685	184922218	13100212	27	7003										
MAPK10	5602	broad.mit.edu	37	chr4	86938398	86938398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtcacctgcaacaacccaGgggtcctgccgaggcttcca	10	15	1	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.chr4:86938398G>T	ENST00000359221.3	-	14	1904	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.L422M			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	460					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAACAACCCAGGGGTCCTGCC	0.577																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(1264-1266)Ctg>Atg		mitogen-activated protein kinase 10							92	94	93					4																	86938398		2203	4300	6503	SO:0001583	missense	5602				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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86938398G>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1378C>A	4.37:g.86938398G>T	ENSP00000352157:p.Leu460Met		Somatic				MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000359221.3_Missense_Mutation_p.L460M|MAPK10_ENST00000361569.2_3'UTR	p.L422M	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	WXS	Illumina GAIIx	Phase_I	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	14	1984	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	460					A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.1264C>A	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247456	0.80024	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000395166;ENST00000449047	T;T;T;T;T	0.81078	-0.99;-0.99;-1.45;-0.99;-0.93	5.65	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.80894	0.4711	M	0.65975	2.015	0.80722	D	1	B;B;P	0.36753	0.414;0.407;0.568	B;B;B	0.39152	0.153;0.292;0.21	T	0.83084	-0.0136	10	0.87932	D	0	-13.2514	15.1662	0.72828	0.0679:0.0:0.9321:0.0	.	315;422;460	Q499Y8;P53779-3;P53779	.;.;MK10_HUMAN	M	422;460;315;422;315	ENSP00000378598:L422M;ENSP00000352157:L460M;ENSP00000378586:L315M;ENSP00000378595:L422M;ENSP00000414469:L315M	ENSP00000352157:L460M	L	-	1	2	MAPK10	87157422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	1.596000	0.50062	0.655000	0.94253	CTG		0.577	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			6	134	6	134	---	---	---	---	T	86938398	G	T	86938398	3	4	157	1	0	0	0	0	1	0	0	0	9272	991	35	1	20	1	MAPK10	4	86938398	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		86938398	104215878	28	7004										
PCDHA9	9752	broad.mit.edu	37	chr5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacagttccaggtgagcgcgCgcgacgcgggcgtgccgcct	16	14	0	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.chr5:140229692C>T	ENST00000532602.1	+	1	2645	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R538C|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_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	9752							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		Somatic				PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.R538C	NM_014005.3	NP_054724.1	WXS	Illumina GAIIx	Phase_I			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	105	129	---	---	---	---	T	140229692	C	T	140229692	3	4	157	1	0	0	0	0	1	0	0	0	11531	768	27	2	1614	2	PCDHA9	5	140229692	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		140229692	40685568	29	7005										
RAB24	53917	broad.mit.edu	37	chr5	176730072	176730072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggccacgaaggcggcccCgatggtctgcaacgagaggg	16	12	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.chr5:176730072C>A	ENST00000303251.6	-	2	543	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	RAB24_ENST00000303270.6_Missense_Mutation_p.G13W|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	42					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)			AAGGCGGCCCCGATGGTCTGC	0.622																																						ENST00000303270.6																			0											c.(37-39)Ggg>Tgg		RAB24, member RAS oncogene family							38	44	42					5																	176730072		2203	4300	6503	SO:0001583	missense	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176730072C>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.124G>T	5.37:g.176730072C>A	ENSP00000304376:p.Gly42Trp		Somatic				RAB24_ENST00000303251.6_Missense_Mutation_p.G42W|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W	p.G13W			WXS	Illumina GAIIx	Phase_I	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	639	-	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)	42					Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	c.37G>T	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984276	0.74474	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270;ENST00000504395	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.22	4.34	0.51931	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.93805	0.8019	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95200	0.8316	10	0.87932	D	0	-6.9553	12.8525	0.57864	0.0:0.92:0.0:0.08	.	42;13	Q969Q5;F8W8H5	RAB24_HUMAN;.	W	42;42;13;42	ENSP00000377235:G42W;ENSP00000304376:G42W;ENSP00000302085:G13W;ENSP00000421442:G42W	ENSP00000304376:G42W	G	-	1	0	RAB24	176662678	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.993000	0.63895	2.425000	0.82216	0.484000	0.47621	GGG		0.622	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		4	54	4	54	---	---	---	---	A	176730072	C	A	176730072	3	1	157	1	0	0	0	0	1	0	0	0	12911	652	23	1	515	1	RAB24	5	176730072	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	36500380	176730072	4185188	30	7006										
CAGE1	285782	broad.mit.edu	37	chr6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgcatttcagtcatgtacCtttcctgtaaacacacataa	5	10	2	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.chr6:7373784C>T	ENST00000512086.1	-	5	1470	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000502583.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000509324.1_5'Flank			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		Somatic				CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K	p.R423K	NM_001170692.1	NP_001164163.1	WXS	Illumina GAIIx	Phase_I	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	43	50	---	---	---	---	T	7373784	C	T	7373784	3	4	157	1	0	0	0	0	1	0	0	0	2572	681	24	2	1397	2	CAGE1	6	7373784	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		7373784	163741283	31	7007										
DDR1	780	broad.mit.edu	37	chr6	30857097	30857097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggctctggtgggcaccCagggacggcatgccgggggc	20	11	1	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.chr6:30857097C>A	ENST00000324771.8	+	6	855	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	103	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)	GGTGGGCACCCAGGGACGGCA	0.672																																						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.(307-309)Cag>Aag		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						78	79	78					6																	30857097		1511	2708	4219	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.chr6:30857097C>A	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.307C>A	6.37:g.30857097C>A	ENSP00000318217:p.Gln103Lys		Somatic				DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K	p.Q103K			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			6	855	+			103			F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.307C>A	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.060809|5.060809	0.93846|0.93846	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000424544|ENST00000505066;ENST00000460944;ENST00000324771;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000454612;ENST00000437124;ENST00000396342;ENST00000512694;ENST00000515233;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.99201	.|-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55;-5.55	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99579|0.99579	0.9848|0.9848	H|H	0.97340|0.97340	3.985|3.985	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;0.999	D|D	0.97839|0.97839	1.0267|1.0267	5|10	.|0.87932	.|D	.|0	.|.	15.4233|15.4233	0.75031|0.75031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103;129;121;103;103	.|Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.|.;.;.;.;DDR1_HUMAN	Q|K	86|103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;103;121;103;103;103;103;129;103;103	.|ENSP00000421189:Q103K;ENSP00000426420:Q103K;ENSP00000318217:Q103K;ENSP00000427369:Q103K;ENSP00000407699:Q103K;ENSP00000422331:Q103K;ENSP00000406091:Q103K;ENSP00000394273:Q103K;ENSP00000379631:Q103K;ENSP00000426229:Q103K;ENSP00000422467:Q103K;ENSP00000365753:Q103K;ENSP00000425113:Q103K;ENSP00000365759:Q103K;ENSP00000365754:Q103K;ENSP00000405998:Q103K;ENSP00000427597:Q103K;ENSP00000390593:Q103K;ENSP00000365752:Q103K;ENSP00000405039:Q103K;ENSP00000422442:Q121K;ENSP00000421719:Q103K;ENSP00000409682:Q103K;ENSP00000422108:Q103K;ENSP00000423906:Q103K;ENSP00000423749:Q129K;ENSP00000365751:Q103K;ENSP00000427552:Q103K	.|ENSP00000318217:Q103K	P|Q	+|+	2|1	0|0	DDR1|DDR1	30965076|30965076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.636000|7.636000	0.83301|0.83301	2.476000|2.476000	0.83614|0.83614	0.305000|0.305000	0.20034|0.20034	CCA|CAG		0.672	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		5	130	5	130	---	---	---	---	A	30857097	C	A	30857097	3	1	157	1	0	0	0	0	1	0	0	0	4336	595	21	1	317	1	DDR1	6	30857097	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	23483313	30857097	140257970	32	7008										
CUL7	9820	broad.mit.edu	37	chr6	43006645	43006645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacatgcagggtctggttccCaaactgcagctcagcccagc	10	15	2	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.chr6:43006645C>A	ENST00000265348.3	-	23	4460	c.4375G>T	c.(4375-4377)Ggg>Tgg	p.G1459W	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.G1543W			Q14999	CUL7_HUMAN	cullin 7	1459					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)			GTCTGGTTCCCAAACTGCAGC	0.637																																						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.(4627-4629)Ggg>Tgg		cullin 7							85	75	78					6																	43006645		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.chr6:43006645C>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.4375G>T	6.37:g.43006645C>A	ENSP00000265348:p.Gly1459Trp		Somatic				CUL7_ENST00000265348.3_Missense_Mutation_p.G1459W	p.G1543W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	WXS	Illumina GAIIx	Phase_I	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)		23	4713	-			1459					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4627G>T	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113847	0.77210	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.82526	-1.62;-1.62	4.53	4.53	0.55603	Cullin, N-terminal (1);Cullin homology (2);	0.072568	0.53938	D	0.000050	D	0.88209	0.6375	M	0.69823	2.125	0.52099	D	0.99994	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	0.89536	0.3789	10	0.87932	D	0	-24.1443	14.0362	0.64646	0.0:0.8484:0.1516:0.0	.	1543;1459;1543;1459	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	W	1459;1543	ENSP00000265348:G1459W;ENSP00000438788:G1543W	ENSP00000265348:G1459W	G	-	1	0	CUL7	43114623	0.942000	0.31987	1.000000	0.80357	0.992000	0.81027	3.885000	0.56182	2.356000	0.79943	0.655000	0.94253	GGG		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		6	80	6	80	---	---	---	---	A	43006645	C	A	43006645	3	1	157	1	0	0	0	0	1	0	0	0	4060	594	21	1	737	1	CUL7	6	43006645	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	12149548	43006645	128108422	33	7009										
PRKAG2	51422	broad.mit.edu	37	chr7	151573651	151573651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttttcttgccgccgctccCgccggggctggaaacatctt	10	14	2	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.chr7:151573651C>A	ENST00000287878.4	-	1	559	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	19					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CCGCCGCTCCCGCCGGGGCTG	0.587																																						ENST00000287878.4																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(55-57)Ggg>Tgg		protein kinase, AMP-activated, gamma 2 non-catalytic subunit							74	78	77					7																	151573651		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573651C>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.55G>T	7.37:g.151573651C>A	ENSP00000287878:p.Gly19Trp		Somatic					p.G19W	NM_016203.3	NP_057287.2	WXS	Illumina GAIIx	Phase_I	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	1	559	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	19					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.55G>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919379	0.73098	.	.	ENSG00000106617	ENST00000287878	D	0.89485	-2.52	4.12	4.12	0.48240	.	0.459161	0.19798	N	0.105801	D	0.88518	0.6458	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89531	0.3785	10	0.87932	D	0	.	11.8161	0.52211	0.0:1.0:0.0:0.0	.	19;19	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	W	19	ENSP00000287878:G19W	ENSP00000287878:G19W	G	-	1	0	PRKAG2	151204584	0.857000	0.29778	1.000000	0.80357	0.991000	0.79684	1.356000	0.34079	2.140000	0.66376	0.449000	0.29647	GGG		0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		5	90	5	90	---	---	---	---	A	151573651	C	A	151573651	3	1	157	1	0	0	0	0	1	0	0	0	12501	652	23	1	1718	1	PRKAG2	7	151573651	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		151573651	7565012	34	7010										
SH2D4A	63898	broad.mit.edu	37	chr8	19190527	19190527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagtctgggtatgggtgatGggcgaacaccatctagataa	14	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.chr8:19190527G>T	ENST00000265807.3	+	3	654	c.243G>T	c.(241-243)atG>atT	p.M81I	SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	81					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)		TATGGGTGATGGGCGAACACC	0.448																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(241-243)atG>atT		SH2 domain containing 4A							165	158	161					8																	19190527		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19190527G>T	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.243G>T	8.37:g.19190527G>T	ENSP00000265807:p.Met81Ile		Somatic				SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	WXS	Illumina GAIIx	Phase_I	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	3	654	+			81					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.243G>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053447	0.75960	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.13420	2.7;2.59;2.7;2.7	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.66506	2.035	0.80722	D	1	P;P	0.51791	0.935;0.948	P;P	0.50860	0.575;0.652	T	0.00662	-1.1621	10	0.49607	T	0.09	.	16.7373	0.85449	0.0:0.0:1.0:0.0	.	36;81	B4DDR1;Q9H788	.;SH24A_HUMAN	I	81;36;81;67	ENSP00000265807:M81I;ENSP00000429482:M36I;ENSP00000428684:M81I;ENSP00000428048:M67I	ENSP00000265807:M81I	M	+	3	0	SH2D4A	19234807	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.370000	0.79589	2.556000	0.86216	0.455000	0.32223	ATG		0.448	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		5	132	5	132	---	---	---	---	T	19190527	G	T	19190527	3	4	157	1	0	0	0	0	1	0	0	0	14235	1348	47	1	299	1	SH2D4A	8	19190527	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		19190527	127173495	35	7011										
CPNE3	8895	broad.mit.edu	37	chr8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaggatctatttggaaagtCagacccatacctggaattcc	9	9	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.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*		Somatic				CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	p.S159*	NM_003909.3	NP_003900.1	WXS	Illumina GAIIx	Phase_I	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	28	43	---	---	---	---	A	87549807	C	A	87549807	4	1	157	1	0	0	0	0	0	1	0	0	3813	838	29	3	494	3	CPNE3	8	87549807	Nonsense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	68359280	87549807	58814215	36	7012										
TP53INP1	94241	broad.mit.edu	37	chr8	95942872	95942872	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggaagggcgaaagctcttGggttgttccagaaaagttgt	15	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.chr8:95942872G>T	ENST00000342697.4	-	4	965	c.558C>A	c.(556-558)ccC>ccA	p.P186P	TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	186					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)					GAAAGCTCTTGGGTTGTTCCA	0.438																																						ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(556-558)ccC>ccA		tumor protein p53 inducible nuclear protein 1							147	154	151					8																	95942872		2203	4300	6503	SO:0001819	synonymous_variant	94241				apoptosis	PML body		g.chr8:95942872G>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.558C>A	8.37:g.95942872G>T			Somatic				NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron	p.P186P	NM_033285.3	NP_150601.1	WXS	Illumina GAIIx	Phase_I	Q96A56	T53I1_HUMAN			4	965	-	Breast(36;8.75e-07)		186					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.558C>A	CCDS6265.1																																																																																				0.438	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			7	287	7	287	---	---	---	---	T	95942872	G	T	95942872	2	4	157	1	0	0	0	0	0	0	0	1	16385	1335	47	1		1	TP53INP1	8	95942872	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	8393065	95942872	50421150	37	7013										
RUSC2	9853	broad.mit.edu	37	chr9	35555387	35555387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccctgggcagctactcccCcatccggagtgttggcccct	11	18	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.chr9:35555387C>A	ENST00000455600.1	+	3	2914	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	782						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)			AGCTACTCCCCCATCCGGAGT	0.662																																						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.(2344-2346)cCc>cAc		RUN and SH3 domain containing 2							79	86	84					9																	35555387		2202	4300	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555387C>A	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.2345C>A	9.37:g.35555387C>A	ENSP00000393922:p.Pro782His		Somatic					p.P782H	NM_001135999.1	NP_001129471	WXS	Illumina GAIIx	Phase_I	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2914	+			782					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2345C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902005	0.72754	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.56275	0.47;0.47	4.22	4.22	0.49857	.	0.137606	0.49916	D	0.000139	T	0.62816	0.2459	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.68085	-0.5502	10	0.87932	D	0	-12.1081	15.9317	0.79668	0.0:1.0:0.0:0.0	.	782	Q8N2Y8	RUSC2_HUMAN	H	782	ENSP00000355177:P782H;ENSP00000393922:P782H	ENSP00000355177:P782H	P	+	2	0	RUSC2	35545387	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.035000	0.64158	2.055000	0.61198	0.563000	0.77884	CCC		0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	209	8	209	---	---	---	---	A	35555387	C	A	35555387	3	1	157	1	0	0	0	0	1	0	0	0	13751	623	22	1	2351	1	RUSC2	9	35555387	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		35555387	105658044	38	7014										
WAC	51322	broad.mit.edu	37	chr10	28822945	28822945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgtcacgaccggaggggGgactcgcagccttaccaggt	15	12	1	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.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC_ENST00000375664.4_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000428935.1_5'UTR|WAC-AS1_ENST00000527986.1_RNA	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			Somatic				WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR	p.G20G	NM_016628.4	NP_057712.2	WXS	Illumina GAIIx	Phase_I	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	4	89	---	---	---	---	A	28822945	G	A	28822945	2	1	157	1	0	0	0	0	0	0	0	1	17244	1219	43	2		2	WAC	10	28822945	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		28822945	106711802	39	7015										
UNC5B	219699	broad.mit.edu	37	chr10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcggctggtccagctgggCagagtggtcaccctgctcca	15	13	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.chr10:73047379C>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		Somatic				UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	p.A253V	NM_170744.4	NP_734465.2	WXS	Illumina GAIIx	Phase_I	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	42	68	---	---	---	---	T	73047379	C	T	73047379	3	4	157	1	0	0	0	0	1	0	0	0	16989	710	25	2	780	2	UNC5B	10	73047379	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	44224434	73047379	62487368	40	7016										
C10orf78	119392	broad.mit.edu	37	chr10	105883828	105883828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaattggtgaagcaggttcaGgagaaagaagaccttcttcg	12	6	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.chr10:105883828G>T	ENST00000369727.3	+	3	511	c.492G>T	c.(490-492)caG>caT	p.Q164H	SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000336358.5_Missense_Mutation_p.Q226H	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	164					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGCAGGTTCAGGAGAAAGAAG	0.363																																						ENST00000336358.5																			0											c.(676-678)caG>caT		SWI5-dependent recombination repair 1							42	44	43					10																	105883828		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883828G>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 78", "MEI5 recombination repair protein homolog (S. cerevisiae)"	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.492G>T	10.37:g.105883828G>T	ENSP00000358742:p.Gln164His		Somatic				SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000369727.3_Missense_Mutation_p.Q164H	p.Q226H			WXS	Illumina GAIIx	Phase_I	Q86XK3	SFR1_HUMAN			2	1197	+			164					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.678G>T	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328704	0.41197	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.50277	0.79;0.78;0.75	5.72	1.17	0.20885	.	0.337483	0.32578	N	0.005910	T	0.52917	0.1764	L	0.58101	1.795	0.26075	N	0.981166	D;B	0.57571	0.98;0.134	P;B	0.58873	0.847;0.073	T	0.42396	-0.9454	10	0.72032	D	0.01	-0.3447	5.7996	0.18406	0.3128:0.0:0.5486:0.1385	.	226;164	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	H	151;164;226	ENSP00000358744:Q151H;ENSP00000358742:Q164H;ENSP00000338089:Q226H	ENSP00000338089:Q226H	Q	+	3	2	SFR1	105873818	0.866000	0.29940	0.886000	0.34754	0.995000	0.86356	0.134000	0.15932	0.420000	0.25954	0.655000	0.94253	CAG		0.363	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		4	40	4	40	---	---	---	---	T	105883828	G	T	105883828	3	4	157	1	0	0	0	0	1	0	0	0	1617	991	35	1	502	1	C10orf78	10	105883828	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	32836449	105883828	29650919	41	7017										
HTRA1	5654	broad.mit.edu	37	chr10	124271537	124271537	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacttcccagacgtgatctcAggagcgtatataattgaagt	10	8	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.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			Somatic					p.S410S	NM_002775.4	NP_002766.1	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	G	124271537	A	G	124271537	2	3	157	1	0	0	0	0	0	0	0	1	7453	175	7	2		2	HTRA1	10	124271537	Silent	SNP	A	TCGA-HC-7080-01A-11D-1961-08	18387709	124271537	11263210	42	7018										
AHNAK	79026	broad.mit.edu	37	chr11	62288981	62288981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccatgaacatctacatcaGgggcatcgatgtccactttg	10	11	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.chr11:62288981G>T	ENST00000378024.4	-	5	13182	c.12908C>A	c.(12907-12909)cCt>cAt	p.P4303H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4303					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)				ATCTACATCAGGGGCATCGAT	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.(12907-12909)cCt>cAt		AHNAK nucleoprotein							175	177	176					11																	62288981		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288981G>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.12908C>A	11.37:g.62288981G>T	ENSP00000367263:p.Pro4303His		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4303H	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	13182	-		Melanoma(852;0.155)	4303					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12908C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.15	1.553666	0.27739	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	5.11	4.19	0.49359	.	0.000000	0.40908	D	0.000989	T	0.26159	0.0638	H	0.97564	4.03	0.36645	D	0.877048	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.66056	D	0.02	.	14.6029	0.68453	0.0:0.0:0.8526:0.1474	.	4303	Q09666	AHNK_HUMAN	H	4303	ENSP00000367263:P4303H	ENSP00000367263:P4303H	P	-	2	0	AHNAK	62045557	1.000000	0.71417	0.431000	0.26735	0.003000	0.03518	4.828000	0.62730	1.134000	0.42165	-0.202000	0.12741	CCT		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	360	8	360	---	---	---	---	T	62288981	G	T	62288981	3	4	157	1	0	0	0	0	1	0	0	0	414	1000	35	1	4884	1	AHNAK	11	62288981	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		62288981	72717535	43	7019										
PHLDB1	23187	broad.mit.edu	37	chr11	118516357	118516357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactcggcctgctcccctgaCaacatgtccaggtacacccg	8	17	0	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_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000534672.1_3'UTR	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			Somatic				PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000534672.1_3'UTR	p.D1135D	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	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	34	54	---	---	---	---	T	118516357	C	T	118516357	2	4	157	1	0	0	0	0	0	0	0	1	11851	477	17	2		2	PHLDB1	11	118516357	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	56227376	118516357	16490159	44	7020										
ADAMTS15	170689	broad.mit.edu	37	chr11	130319507	130319507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgggcgcgccaagcgtttCgtgtctatcccgcggtacgt	13	13	2	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.chr11:130319507C>A	ENST00000299164.2	+	1	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	213						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)		CCAAGCGTTTCGTGTCTATCC	0.667																																						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.(637-639)ttC>ttA		ADAM metallopeptidase with thrombospondin type 1 motif, 15							32	28	30					11																	130319507		2196	4292	6488	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319507C>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.639C>A	11.37:g.130319507C>A	ENSP00000299164:p.Phe213Leu		Somatic					p.F213L	NM_139055.2	NP_620686.1	WXS	Illumina GAIIx	Phase_I	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	639	+	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)	213					Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.639C>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040361	0.93630	.	.	ENSG00000166106	ENST00000299164	T	0.59638	0.25	5.21	4.28	0.50868	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.54498	0.1862	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53107	-0.8485	9	0.26408	T	0.33	.	13.2562	0.60081	0.0:0.8694:0.0:0.1306	.	213	Q8TE58	ATS15_HUMAN	L	213	ENSP00000299164:F213L	ENSP00000299164:F213L	F	+	3	2	ADAMTS15	129824717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.191000	0.32138	2.589000	0.87451	0.655000	0.94253	TTC		0.667	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		3	18	3	18	---	---	---	---	A	130319507	C	A	130319507	3	1	157	1	0	0	0	0	1	0	0	0	260	883	31	3	641	3	ADAMTS15	11	130319507	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	11803150	130319507	4687009	45	7021										
LEPREL2	10536	broad.mit.edu	37	chr12	6943162	6943162	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtcggagcgggcggtgttGgatgggctgctcaccccagc	19	11	1	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.chr12:6943162G>T	ENST00000538102.1	+	0	557				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_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)	GGGCGGTGTTGGATGGGCTGC	0.587																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2																																						10536							g.chr12:6943162G>T	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.6943162G>T			Somatic				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2	WXS	Illumina GAIIx	Phase_I					0	1440	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	G	13.39	2.222073	0.39300	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.71817	-0.6;-0.6	4.72	2.85	0.33270	Prolyl 4-hydroxylase, alpha subunit (1);	0.142126	0.47455	D	0.000229	T	0.52322	0.1727	.	.	.	0.44323	D	0.997202	B	0.33549	0.417	B	0.25884	0.064	T	0.48305	-0.9047	9	0.49607	T	0.09	-20.1236	3.7448	0.08544	0.1564:0.129:0.5821:0.1325	.	469	Q8IVL6	P3H3_HUMAN	F	468;284	ENSP00000379951:L468F;ENSP00000290510:L284F	ENSP00000290510:L284F	L	+	3	2	LEPREL2	6813423	1.000000	0.71417	0.906000	0.35671	0.991000	0.79684	0.766000	0.26560	0.569000	0.29329	0.561000	0.74099	TTG		0.587	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		5	125	5	125	---	---	---	---	T	6943162	G	T	6943162	1	4	157	0	1	0	0	0	0	0	0	0	8731	1339	47	1		1	LEPREL2	12	6943162	RNA	SNP	G	TCGA-HC-7080-01A-11D-1961-08		6943162	126908733	46	7022										
HIGD1C	613227	broad.mit.edu	37	chr12	51347860	51347860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggaaatctagagactccCcctttgtccctataggtaag	8	11	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.chr12:51347860C>A	ENST00000398455.3	+	1	156	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	27	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)				lung(1)	1						TAGAGACTCCCCCTTTGTCCC	0.418																																						ENST00000398455.3																			0				lung(1)	1						c.(79-81)Ccc>Acc		HIG1 hypoxia inducible domain family, member 1C							109	106	107					12																	51347860		1869	4117	5986	SO:0001583	missense	613227					integral to membrane		g.chr12:51347860C>A	DQ029494	CCDS44882.1	12q13.12	2011-09-16	2009-03-17		ENSG00000214511	ENSG00000214511			28044	protein-coding gene	gene with protein product			"HIG1 domain family, member 1C"				Standard	NM_001109619		Approved	Gm921	uc010smw.2	A8MV81	OTTHUMG00000169488	ENST00000398455.3:c.79C>A	12.37:g.51347860C>A	ENSP00000381473:p.Pro27Thr		Somatic					p.P27T	NM_001109619.1	NP_001103089.1	WXS	Illumina GAIIx	Phase_I	A8MV81	HIG1C_HUMAN			1	156	+			27			HIG1.			Missense_Mutation	SNP	ENST00000398455.3	37	c.79C>A	CCDS44882.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805852	0.70682	.	.	ENSG00000214511	ENST00000398455	T	0.64260	-0.09	4.7	4.7	0.59300	Hypoxia induced protein, domain (2);	0.000000	0.64402	U	0.000004	T	0.80407	0.4617	.	.	.	0.51482	D	0.999927	D	0.89917	1.0	D	0.91635	0.999	D	0.83518	0.0084	9	0.87932	D	0	-7.4466	17.2473	0.87031	0.0:1.0:0.0:0.0	.	27	A8MV81	HIG1C_HUMAN	T	27	ENSP00000381473:P27T	ENSP00000381473:P27T	P	+	1	0	HIGD1C	49634127	0.924000	0.31332	0.987000	0.45799	0.944000	0.59088	4.336000	0.59304	2.528000	0.85240	0.585000	0.79938	CCC		0.418	HIGD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404340.2	NM_001109619		6	112	6	112	---	---	---	---	A	51347860	C	A	51347860	3	1	157	1	0	0	0	0	1	0	0	0	7108	623	22	1	81	1	HIGD1C	12	51347860	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	44404698	51347860	82504035	47	7023										
GRIP1	23426	broad.mit.edu	37	chr12	66935631	66935631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgccgcagattagatactCttggcttgccatccttatca	7	12	2	2	rs375701385		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.chr12:66935631C>A	ENST00000398016.3	-	3	304	c.236G>T	c.(235-237)aGa>aTa	p.R79I	GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I|GRIP1_ENST00000359742.4_Missense_Mutation_p.R79I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				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)		ATTAGATACTCTTGGCTTGCC	0.468																																						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.(235-237)aGa>aTa		glutamate receptor interacting protein 1							238	239	239					12																	66935631		1919	4131	6050	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.chr12:66935631C>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.236G>T	12.37:g.66935631C>A	ENSP00000381098:p.Arg79Ile		Somatic				GRIP1_ENST00000398016.3_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I	p.R79I			WXS	Illumina GAIIx	Phase_I	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	3	476	-			79			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.236G>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331305	0.60853	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	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	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.999	P;D;D	0.81914	0.726;0.995;0.967	T	0.09952	-1.0651	9	.	.	.	-21.2829	19.4655	0.94935	0.0:1.0:0.0:0.0	.	79;79;79	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	I	79;79;79;79;23;23;52;23;23;105	ENSP00000381098:R79I;ENSP00000352780:R79I;ENSP00000286445:R79I;ENSP00000446047:R79I;ENSP00000446024:R23I;ENSP00000446011:R23I;ENSP00000439124:R52I;ENSP00000438500:R23I;ENSP00000443392:R23I;ENSP00000438921:R105I	.	R	-	2	0	GRIP1	65221898	0.998000	0.40836	0.016000	0.15963	0.030000	0.12068	6.046000	0.71029	2.698000	0.92095	0.655000	0.94253	AGA		0.468	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			7	380	7	380	---	---	---	---	A	66935631	C	A	66935631	3	1	157	1	0	0	0	0	1	0	0	0	6787	913	32	3	3082	3	GRIP1	12	66935631	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	15587771	66935631	66916264	48	7024										
LGR5	8549	broad.mit.edu	37	chr12	71978504	71978504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcctctgtggcatttgtccCatgtctctaattaatatgtg	7	9	2	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.chr12:71978504C>A	ENST00000266674.5	+	18	3025	c.2714C>A	c.(2713-2715)cCa>cAa	p.P905Q	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q|LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905					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						GCATTTGTCCCATGTCTCTAA	0.428																																						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.(2713-2715)cCa>cAa		leucine-rich repeat containing G protein-coupled receptor 5							100	97	98					12																	71978504		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978504C>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.2714C>A	12.37:g.71978504C>A	ENSP00000266674:p.Pro905Gln		Somatic				LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q	p.P905Q			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			18	3025	+			905					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2714C>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179264	0.78564	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.59083	0.35;0.29;0.39	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.76414	0.3984	M	0.72118	2.19	0.49582	D	0.999808	D;D	0.69078	0.997;0.995	D;P	0.67382	0.951;0.894	T	0.77000	-0.2750	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	881;905	O75473-2;O75473	.;LGR5_HUMAN	Q	905;833;881	ENSP00000266674:P905Q;ENSP00000443033:P833Q;ENSP00000441035:P881Q	ENSP00000266674:P905Q	P	+	2	0	LGR5	70264771	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.456000	0.73501	2.833000	0.97629	0.585000	0.79938	CCA		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		5	163	5	163	---	---	---	---	A	71978504	C	A	71978504	3	1	157	1	0	0	0	0	1	0	0	0	8757	594	21	1	2784	1	LGR5	12	71978504	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	5042873	71978504	61873391	49	7025										
BIVM	54841	broad.mit.edu	37	chr13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaatctgagagtgaagacAatatttccaagaagcagcat	8	8	1	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.chr13:103492069A>C	ENST00000257336.1	+	11	2045	c.1366A>C	c.(1366-1368)Aat>Cat	p.N456H	BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM_ENST00000419638.1_3'UTR|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	100533467				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		Somatic				BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H	p.Q427P	NM_001204425.1	NP_001191354.1	WXS	Illumina GAIIx	Phase_I	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	3	132	---	---	---	---	C	103492069	A	C	103492069	3	2	157	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	50	7026										
MCF2L	23263	broad.mit.edu	37	chr13	113732744	113732744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggagagggccctaccggagGgccaaggtgaggcttgccca	17	12	0	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_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000397030.1_Silent_p.R609R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375601.3_Silent_p.R580R			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			Somatic				MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R	p.R609R			WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	A	113732744	G	A	113732744	2	1	157	1	0	0	0	0	0	0	0	1	9379	1223	43	2		2	MCF2L	13	113732744	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	10240675	113732744	1437134	51	7027										
FUT8	2530	broad.mit.edu	37	chr14	66188637	66188637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtgaccctgcagtgtggtGggtgtctcagtttgtcaaat	14	7	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.chr14:66188637G>T	ENST00000360689.5	+	8	2707	c.980G>T	c.(979-981)tGg>tTg	p.W327L	FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000417683.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	327	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)		GCAGTGTGGTGGGTGTCTCAG	0.483																																						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.(979-981)tGg>tTg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							166	147	154					14																	66188637		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.chr14:66188637G>T	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.980G>T	14.37:g.66188637G>T	ENSP00000353910:p.Trp327Leu		Somatic				FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L	p.W327L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	WXS	Illumina GAIIx	Phase_I	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	8	2707	+			327					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.980G>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615881	0.87359	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94358	0.8186	M	0.78801	2.425	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.52627	0.612;0.704	D	0.94223	0.7469	10	0.51188	T	0.08	-5.6204	17.2877	0.87146	0.0:0.0:1.0:0.0	.	198;327	G3XAD2;Q9BYC5	.;FUT8_HUMAN	L	327;327;164;327;198	ENSP00000353910:W327L;ENSP00000378087:W327L;ENSP00000452433:W164L;ENSP00000378086:W327L;ENSP00000351057:W198L	ENSP00000351057:W198L	W	+	2	0	FUT8	65258390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	TGG		0.483	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		7	158	7	158	---	---	---	---	T	66188637	G	T	66188637	3	4	157	1	0	0	0	0	1	0	0	0	6110	1357	47	1	1101	1	FUT8	14	66188637	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		66188637	41160903	52	7028										
ACOT4	122970	broad.mit.edu	37	chr14	74060421	74060421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctaggacctggacccttccCagggatcattgacatctttg	9	12	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.chr14:74060421C>A	ENST00000326303.4	+	2	727	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	158					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGACCCTTCCCAGGGATCATT	0.448																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(472-474)cCa>cAa		acyl-CoA thioesterase 4							66	67	67					14																	74060421		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060421C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.473C>A	14.37:g.74060421C>A	ENSP00000323071:p.Pro158Gln		Somatic					p.P158Q	NM_152331.3	NP_689544.3	WXS	Illumina GAIIx	Phase_I	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	727	+			158					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.473C>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426792	0.83667	.	.	ENSG00000177465	ENST00000326303	T	0.74315	-0.83	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94415	0.7635	10	0.87932	D	0	-7.8447	18.4245	0.90605	0.0:1.0:0.0:0.0	.	158	Q8N9L9	ACOT4_HUMAN	Q	158	ENSP00000323071:P158Q	ENSP00000323071:P158Q	P	+	2	0	ACOT4	73130174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.593000	0.74100	2.442000	0.82660	0.561000	0.74099	CCA		0.448	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		7	131	7	131	---	---	---	---	A	74060421	C	A	74060421	3	1	157	1	0	0	0	0	1	0	0	0	153	594	21	1	479	1	ACOT4	14	74060421	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	7871784	74060421	33289119	53	7029										
CLK3	1198	broad.mit.edu	37	chr15	74911652	74911652	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagactgcgatacccgtccCgaagggagcctcccccacga	12	16	0	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.chr15:74911652C>A	ENST00000395066.3	+	2	1020	c.559C>A	c.(559-561)Cga>Aga	p.R187R	CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	187	Arg-rich.				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)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ATACCCGTCCCGAAGGGAGCC	0.592																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(559-561)Cga>Aga		CDC-like kinase 3							137	120	126					15																	74911652		2197	4296	6493	SO:0001819	synonymous_variant	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911652C>A	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.559C>A	15.37:g.74911652C>A			Somatic				CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R	p.R187R	NM_001130028.1	NP_001123500.1	WXS	Illumina GAIIx	Phase_I	P49761	CLK3_HUMAN			2	1020	+			187			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	c.559C>A	CCDS45304.1																																																																																				0.592	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			4	121	4	121	---	---	---	---	A	74911652	C	A	74911652	2	1	157	1	0	0	0	0	0	0	0	1	3538	644	23	1		1	CLK3	15	74911652	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08		74911652	27619740	54	7030										
ADAMTS17	170691	broad.mit.edu	37	chr15	100821478	100821478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctgggcggcctcggcccCgtggtactgcaccatgtcgg	14	16	1	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.chr15:100821478C>A	ENST00000268070.4	-	4	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		GCCTCGGCCCCGTGGTACTGC	0.652																																						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.(745-747)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 17							61	65	64					15																	100821478		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821478C>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.745G>T	15.37:g.100821478C>A	ENSP00000268070:p.Gly249Trp		Somatic					p.G249W	NM_139057.2	NP_620688.2	WXS	Illumina GAIIx	Phase_I	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)	4	850	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		249			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.745G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868260	0.91587	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.89343	-2.5	4.82	4.82	0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.066684	0.64402	D	0.000020	D	0.95211	0.8447	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96112	0.9078	10	0.87932	D	0	.	17.9188	0.88960	0.0:1.0:0.0:0.0	.	6;249	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	W	249;6	ENSP00000268070:G249W	ENSP00000268070:G249W	G	-	1	0	ADAMTS17	98639001	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.033000	0.76504	2.221000	0.72209	0.462000	0.41574	GGG		0.652	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		4	109	4	109	---	---	---	---	A	100821478	C	A	100821478	3	1	157	1	0	0	0	0	1	0	0	0	262	652	23	1	2618	1	ADAMTS17	15	100821478	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	25909826	100821478	1709914	55	7031										
MPG	4350	broad.mit.edu	37	chr16	133168	133168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtggccggcagacccccCgcaaccgaggcatgttcatg	15	14	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.chr16:133168C>A	ENST00000219431.4	+	4	664	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	MPG_ENST00000397817.1_Missense_Mutation_p.R128S|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	145					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGACCCCCCGCAACCGAGG	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(433-435)Cgc>Agc	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							114	125	121					16																	133168		2203	4300	6503	SO:0001583	missense	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133168C>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.433C>A	16.37:g.133168C>A	ENSP00000219431:p.Arg145Ser		Somatic				MPG_ENST00000397817.1_Missense_Mutation_p.R128S	p.R145S	NM_002434.3	NP_002425.2	WXS	Illumina GAIIx	Phase_I	P29372	3MG_HUMAN			4	664	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	145					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.433C>A	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024268	0.54683	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.41	4.46	0.54185	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.90019	3.08	0.52099	D	0.999943	P;P;P	0.45044	0.849;0.688;0.849	P;P;P	0.54346	0.749;0.645;0.645	T	0.59257	-0.7488	10	0.52906	T	0.07	-21.8467	13.1704	0.59595	0.0:0.923:0.0:0.077	.	128;140;145	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	S	128;128;140;145	ENSP00000388097:R128S;ENSP00000380918:R128S;ENSP00000348809:R140S;ENSP00000219431:R145S	ENSP00000219431:R145S	R	+	1	0	MPG	73168	0.995000	0.38212	1.000000	0.80357	0.971000	0.66376	3.113000	0.50376	1.283000	0.44513	0.462000	0.41574	CGC		0.602	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			6	250	6	250	---	---	---	---	A	133168	C	A	133168	3	1	157	1	0	0	0	0	1	0	0	0	9724	652	23	1	471	1	MPG	16	133168	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		133168	90221585	56	7032										
CLEC16A	23274	broad.mit.edu	37	chr16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-													0	0	1	0	0	0	1	1	0	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.(958-963)gtcttc>gtc		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			Somatic				CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	p.F321del	NM_015226.2	NP_056041.1	WXS	Illumina GAIIx	Phase_I	Q2KHT3	CL16A_HUMAN			10	1189_1191	+			321						Splice_Site	DEL	ENST00000409790.1	37	c.959_961delTCT	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	157	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	10943568	11076736	79278017	57	7033										
SYT17	51760	broad.mit.edu	37	chr16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catctcccacgatggctcgcGccaggacatggcgcactcca	10	17	1	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_ENST00000562711.2_Missense_Mutation_p.R217H|SYT17_ENST00000562034.1_Missense_Mutation_p.R160H|SYT17_ENST00000568115.1_Missense_Mutation_p.R160H	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		Somatic				SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H	p.R160H			WXS	Illumina GAIIx	Phase_I	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	7	221	---	---	---	---	A	19195180	G	A	19195180	3	1	157	1	0	0	0	0	1	0	0	0	15470	1087	38	2	680	2	SYT17	16	19195180	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	8118444	19195180	71159573	58	7034										
IRX6	79190	broad.mit.edu	37	chr16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcatacccaaagcctttgGaaaccccaagtttgccctgc	7	15	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.chr16:55363122G>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		Somatic				RP11-26L20.3_ENST00000558730.2_RNA	p.G411V	NM_024335.2	NP_077311.2	WXS	Illumina GAIIx	Phase_I	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	49	80	---	---	---	---	T	55363122	G	T	55363122	3	4	157	1	0	0	0	0	1	0	0	0	7848	1174	41	3	1250	3	IRX6	16	55363122	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	36167942	55363122	34991631	59	7035										
GALNS	2588	broad.mit.edu	37	chr16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaaaccactcatcaaatcCgtgcttcagggggtggaact	9	12	3	0	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		Somatic				GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	p.G155R	NM_000512.4	NP_000503.1	WXS	Illumina GAIIx	Phase_I	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	49	64	---	---	---	---	T	88904133	C	T	88904133	3	4	157	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	60	7036										
C17orf87	388325	broad.mit.edu	37	chr17	5126630	5126630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtaaaatggccattacctCgtctaagctgccacttacag	8	11	1	0	rs201982608		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.chr17:5126630C>A	ENST00000574081.1	-	2	247	c.143G>T	c.(142-144)cGa>cTa	p.R48L	SCIMP_ENST00000399600.4_Intron|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	48					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GCCATTACCTCGTCTAAGCTG	0.512																																						ENST00000574081.1																			0											c.(142-144)cGa>cTa		SLP adaptor and CSK interacting membrane protein							353	341	345					17																	5126630		2083	4218	6301	SO:0001583	missense	388325					integral to membrane		g.chr17:5126630C>A	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.143G>T	17.37:g.5126630C>A	ENSP00000461269:p.Arg48Leu		Somatic				RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|SCIMP_ENST00000399600.4_Intron	p.R48L	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	WXS	Illumina GAIIx	Phase_I	Q6UWF3	CQ087_HUMAN			2	247	-			48					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.143G>T	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661016	0.29515	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.13	1.73	0.24493	.	0.358029	0.24224	N	0.040413	T	0.18002	0.0432	N	0.14661	0.345	0.22552	N	0.998991	B	0.12013	0.005	B	0.14578	0.011	T	0.14811	-1.0459	9	0.72032	D	0.01	-12.5417	3.7925	0.08726	0.0:0.1906:0.1889:0.6206	.	48	Q6UWF3	CQ087_HUMAN	L	48;37	.	ENSP00000382501:R37L	R	-	2	0	C17orf87	5067354	1.000000	0.71417	0.993000	0.49108	0.290000	0.27261	0.410000	0.21098	0.472000	0.27344	-0.238000	0.12139	CGA		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		7	511	7	511	---	---	---	---	A	5126630	C	A	5126630	3	1	157	1	0	0	0	0	1	0	0	0	1889	884	31	3	310	3	C17orf87	17	5126630	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		5126630	76068580	61	7037										
PIPOX	51268	broad.mit.edu	37	chr17	27380589	27380589	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accaaccagctcctccgtccCctgggcattgagatgcctct	8	17	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.chr17:27380589C>A	ENST00000323372.4	+	4	962	c.636C>A	c.(634-636)ccC>ccA	p.P212P	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	212					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCTCCGTCCCCTGGGCATTG	0.557																																						ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(634-636)ccC>ccA		pipecolic acid oxidase	Glycine(DB00145)						65	62	63					17																	27380589		2203	4300	6503	SO:0001819	synonymous_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380589C>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"L-pipecolic acid oxidase"					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.636C>A	17.37:g.27380589C>A			Somatic				PIPOX_ENST00000583215.1_3'UTR	p.P212P	NM_016518.2	NP_057602.2	WXS	Illumina GAIIx	Phase_I	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	962	+	Lung NSC(42;0.015)		212					B3KNH0|Q96H28|Q9C070	Silent	SNP	ENST00000323372.4	37	c.636C>A	CCDS11248.1																																																																																				0.557	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		5	68	5	68	---	---	---	---	A	27380589	C	A	27380589	2	1	157	1	0	0	0	0	0	0	0	1	11943	610	22	1		1	PIPOX	17	27380589	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	22253959	27380589	53814621	62	7038										
CNTNAP1	8506	broad.mit.edu	37	chr17	40849614	40849614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatccagcgctacaacacccCaggtttctcaggctgcctgt	9	15	1	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.chr17:40849614C>A	ENST00000264638.4	+	22	3828	c.3611C>A	c.(3610-3612)cCa>cAa	p.P1204Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1204	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)	p.P1204R(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)		TACAACACCCCAGGTTTCTCA	0.582																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.P1204R(1)	NS(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.(3610-3612)cCa>cAa		contactin associated protein 1							104	97	100					17																	40849614		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.chr17:40849614C>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.3611C>A	17.37:g.40849614C>A	ENSP00000264638:p.Pro1204Gln		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.P1204Q	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3828	+		Breast(137;0.000143)	1204			Laminin G-like 4.			Missense_Mutation	SNP	ENST00000264638.4	37	c.3611C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492196	0.64074	.	.	ENSG00000108797	ENST00000264638	T	0.77489	-1.1	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.091207	0.47455	D	0.000229	D	0.82926	0.5143	L	0.42245	1.32	0.54753	D	0.999985	D	0.71674	0.998	D	0.68621	0.959	T	0.77608	-0.2524	10	0.15066	T	0.55	.	18.9588	0.92670	0.0:1.0:0.0:0.0	.	1204	P78357	CNTP1_HUMAN	Q	1204	ENSP00000264638:P1204Q	ENSP00000264638:P1204Q	P	+	2	0	CNTNAP1	38103140	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.206000	0.77891	2.564000	0.86499	0.650000	0.86243	CCA		0.582	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	110	5	110	---	---	---	---	A	40849614	C	A	40849614	3	1	157	1	0	0	0	0	1	0	0	0	3646	594	21	1	3697	1	CNTNAP1	17	40849614	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	13469025	40849614	40345596	63	7039										
WNK4	65266	broad.mit.edu	37	chr17	40939533	40939533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaccagcccttccttttcCgccacgccagctactcatct	5	19	2	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.chr17:40939533C>A	ENST00000246914.5	+	7	1735	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	572					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)		CTTCCTTTTCCGCCACGCCAG	0.617																																					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.(1714-1716)Cgc>Agc		WNK lysine deficient protein kinase 4							164	170	168					17																	40939533		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939533C>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.1714C>A	17.37:g.40939533C>A	ENSP00000246914:p.Arg572Ser		Somatic				WNK4_ENST00000587705.1_3'UTR	p.R572S	NM_032387.4	NP_115763.2	WXS	Illumina GAIIx	Phase_I	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1735	+		Breast(137;0.000143)	572					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1714C>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996636	0.74818	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.73047	-0.71	4.98	4.98	0.66077	.	0.000000	0.47852	D	0.000213	T	0.77611	0.4156	L	0.48642	1.525	0.39354	D	0.965809	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.973;0.94;0.94	T	0.78679	-0.2110	10	0.48119	T	0.1	-11.1971	12.1724	0.54165	0.1713:0.8287:0.0:0.0	.	572;572;572	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	S	572;344	ENSP00000246914:R572S	ENSP00000246914:R572S	R	+	1	0	WNK4	38193059	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.477000	0.53151	2.311000	0.77944	0.455000	0.32223	CGC		0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			9	233	9	233	---	---	---	---	A	40939533	C	A	40939533	3	1	157	1	0	0	0	0	1	0	0	0	17377	652	23	1	1740	1	WNK4	17	40939533	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	89919	40939533	40255677	64	7040										
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	7	11	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.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_ENST00000393331.3_Missense_Mutation_p.W131S|SPOP_ENST00000504102.1_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	77	106	---	---	---	---	G	47696431	C	G	47696431	3	3	157	1	0	0	0	0	1	0	0	0	15083	595	21	4	756	4	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	6756898	47696431	33498779	65	7041										
SPAG9	9043	broad.mit.edu	37	chr17	49054554	49054554	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accataagagctgtaattctCacaaaagagaagcccagttt	7	9	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.chr17:49054554C>A	ENST00000262013.7	-	27	3646	c.3438G>T	c.(3436-3438)gtG>gtT	p.V1146V	SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1146					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)			CTGTAATTCTCACAAAAGAGA	0.388																																						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.(3436-3438)gtG>gtT		sperm associated antigen 9							120	111	114					17																	49054554		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:49054554C>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.3438G>T	17.37:g.49054554C>A			Somatic				SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	p.V1146V	NM_001130528.2	NP_001124000.1	WXS	Illumina GAIIx	Phase_I	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		27	3646	-			1146					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.3438G>T	CCDS45740.1																																																																																				0.388	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		6	161	6	161	---	---	---	---	A	49054554	C	A	49054554	2	1	157	1	0	0	0	0	0	0	0	1	14985	813	29	3		3	SPAG9	17	49054554	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	1358123	49054554	32140656	66	7042										
AP3D1	8943	broad.mit.edu	37	chr19	2114785	2114785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagccctgtaggggtcgttGgggtctttgtcatcctcgtc	14	10	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.chr19:2114785G>T	ENST00000345016.5	-	21	2616	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	AP3D1_ENST00000350812.6_Silent_p.P626P|AP3D1_ENST00000355272.6_Silent_p.P795P|AP3D1_ENST00000356926.4_Silent_p.P704P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	795					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)		AGGGGTCGTTGGGGTCTTTGT	0.567																																						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.(2383-2385)ccC>ccA		adaptor-related protein complex 3, delta 1 subunit							131	138	136					19																	2114785		1974	4156	6130	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.chr19:2114785G>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.2385C>A	19.37:g.2114785G>T			Somatic				AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000345016.5_Silent_p.P795P|AP3D1_ENST00000350812.6_Silent_p.P626P	p.P795P	NM_001261826.1	NP_001248755.1	WXS	Illumina GAIIx	Phase_I	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)	21	2591	-		Hepatocellular(1079;0.137)	795					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2385C>A	CCDS42459.1																																																																																				0.567	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			5	114	5	114	---	---	---	---	T	2114785	G	T	2114785	2	4	157	1	0	0	0	0	0	0	0	1	746	1335	47	1		1	AP3D1	19	2114785	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		2114785	57014198	67	7043										
KIAA1543	57662	broad.mit.edu	37	chr19	7670124	7670124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccacagagcacgtgccccCggagctgtgggagcccttct	12	17	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.chr19:7670124C>A	ENST00000160298.4	+	2	262	c.161C>A	c.(160-162)cCg>cAg	p.P54Q	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P54Q	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	54					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						CACGTGCCCCCGGAGCTGTGG	0.622																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(160-162)cCg>cAg		calmodulin regulated spectrin-associated protein family, member 3							108	117	114					19																	7670124		1995	4171	6166	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.chr19:7670124C>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.161C>A	19.37:g.7670124C>A	ENSP00000160298:p.Pro54Gln		Somatic				CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P54Q	p.P54Q	NM_001080429.2	NP_001073898.1	WXS	Illumina GAIIx	Phase_I	Q9P1Y5	CAMP3_HUMAN			2	262	+			54					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.161C>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	9.555	1.116997	0.20795	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.13196	2.61;2.61	4.45	4.45	0.53987	.	0.149447	0.41001	U	0.000963	T	0.10981	0.0268	N	0.19112	0.55	0.22639	N	0.998908	P;P	0.50943	0.94;0.892	B;B	0.43155	0.41;0.318	T	0.18085	-1.0348	10	0.29301	T	0.29	-19.0197	15.8571	0.78987	0.0:1.0:0.0:0.0	.	54;54	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	Q	54	ENSP00000416797:P54Q;ENSP00000160298:P54Q	ENSP00000160298:P54Q	P	+	2	0	KIAA1543	7576124	0.881000	0.30235	1.000000	0.80357	0.532000	0.34746	0.315000	0.19451	2.005000	0.58758	0.478000	0.44815	CCG		0.622	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		6	291	6	291	---	---	---	---	A	7670124	C	A	7670124	3	1	157	1	0	0	0	0	1	0	0	0	8243	652	23	1	167	1	KIAA1543	19	7670124	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	5555339	7670124	51458859	68	7044										
UQCRFS1	7386	broad.mit.edu	37	chr19	29698722	29698722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gataattcaactgcagcttcCtgctcaatttccttctgggt	7	11	3	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.chr19:29698722C>A	ENST00000304863.4	-	2	980	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	186					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTGCAGCTTCCTGCTCAATTT	0.438																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(556-558)caG>caT		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							119	127	124					19																	29698722		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698722C>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12587	protein-coding gene	gene with protein product	"cytochrome b-c1 complex subunit 5"	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.558G>T	19.37:g.29698722C>A	ENSP00000306397:p.Gln186His		Somatic					p.Q186H	NM_006003.2	NP_005994.2	WXS	Illumina GAIIx	Phase_I	P47985	UCRI_HUMAN	Lung(7;0.092)		2	980	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		186					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.558G>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190108	0.21954	.	.	ENSG00000169021	ENST00000304863	T	0.44881	0.91	5.42	2.95	0.34219	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.162977	0.53938	D	0.000048	T	0.39911	0.1096	L	0.46157	1.445	0.42002	D	0.990899	P	0.43392	0.805	P	0.45998	0.5	T	0.30179	-0.9987	10	0.49607	T	0.09	.	9.5538	0.39326	0.0:0.7485:0.0:0.2515	.	186	P47985	UCRI_HUMAN	H	186	ENSP00000306397:Q186H	ENSP00000306397:Q186H	Q	-	3	2	UQCRFS1	34390562	0.913000	0.31002	0.997000	0.53966	0.106000	0.19336	0.016000	0.13377	1.288000	0.44600	0.462000	0.41574	CAG		0.438	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		7	313	7	313	---	---	---	---	A	29698722	C	A	29698722	3	1	157	1	0	0	0	0	1	0	0	0	17018	680	24	1	270	1	UQCRFS1	19	29698722	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	22028598	29698722	29430261	69	7045										
U2AF1L4	199746	broad.mit.edu	37	chr19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggtccccgcccatagaGctgcctctggaggttctggg	14	14	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.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S|PSENEN_ENST00000591949.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|PSENEN_ENST00000587708.2_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|IGFLR1_ENST00000344990.3_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000592537.1_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		Somatic				U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S	p.L185F			WXS	Illumina GAIIx	Phase_I	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	7	13	---	---	---	---	A	36234735	G	A	36234735	3	1	157	1	0	0	0	0	1	0	0	0	16819	971	34	2	238	2	U2AF1L4	19	36234735	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	6536013	36234735	22894248	70	7046										
SAMD4B	55095	broad.mit.edu	37	chr19	39866397	39866397	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccagaggagcttggggccCgggctgcttttaccacgccc	14	14	0	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.chr19:39866397C>A	ENST00000314471.6	+	7	1810	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	SAMD4B_ENST00000598913.1_Silent_p.R259R|SAMD4B_ENST00000596368.1_Silent_p.R259R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTTGGGGCCCGGGCTGCTTT	0.647																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(775-777)Cgg>Agg		sterile alpha motif domain containing 4B							77	84	81					19																	39866397		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39866397C>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.775C>A	19.37:g.39866397C>A			Somatic				SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R	p.R259R	NM_018028.2	NP_060498.2	WXS	Illumina GAIIx	Phase_I	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1810	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		259					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.775C>A	CCDS33020.1																																																																																				0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		6	208	6	208	---	---	---	---	A	39866397	C	A	39866397	2	1	157	1	0	0	0	0	0	0	0	1	13822	643	23	1		1	SAMD4B	19	39866397	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	3631662	39866397	19262586	71	7047										
MEGF8	1954	broad.mit.edu	37	chr19	42840497	42840497	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacaccggccctccactgccCggtaagtgacctgtcccata	9	17	0	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.chr19:42840497C>A	ENST00000251268.6	+	6	1243	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	MEGF8_ENST00000334370.4_Splice_Site_p.R415R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	415					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)				CTCCACTGCCCGGTAAGTGAC	0.637																																						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.(1243-1245)Cgg>Agg		multiple EGF-like-domains 8							19	20	20					19																	42840497		2068	4185	6253	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42840497C>A	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.1244+1C>A	19.37:g.42840497C>A			Somatic				MEGF8_ENST00000251268.6_Splice_Site_p.R415R	p.R415R	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			6	1878	+		Prostate(69;0.00682)	415					A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37	c.1243C>A																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Silent	3	34	3	34	---	---	---	---	A	42840497	C	A	42840497	5	1	157	1	0	0	0	0	0	0	1	0	9463	666	23	1	1265	1	MEGF8	19	42840497	Splice_Site	SNP	C	TCGA-HC-7080-01A-11D-1961-08	2974100	42840497	16288486	72	7048										
FOXA3	3171	broad.mit.edu	37	chr19	46375372	46375372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgcccaccatggcccccCtcaactcctacatgaccctg	6	20	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.chr19:46375372C>A	ENST00000302177.2	+	2	306	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	37					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)			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)		CATGGCCCCCCTCAACTCCTA	0.642																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(109-111)Ctc>Atc		forkhead box A3							58	67	64					19																	46375372		2202	4299	6501	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.chr19:46375372C>A	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.109C>A	19.37:g.46375372C>A	ENSP00000304004:p.Leu37Ile		Somatic					p.L37I	NM_004497.2	NP_004488.2	WXS	Illumina GAIIx	Phase_I	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	306	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	37					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.109C>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579266	0.28180	.	.	ENSG00000170608	ENST00000302177	T	0.18338	2.22	4.3	4.3	0.51218	Fork-head N-terminal (1);	0.409722	0.16822	U	0.198110	T	0.12433	0.0302	N	0.19112	0.55	0.32177	N	0.580897	P	0.38978	0.652	B	0.40940	0.344	T	0.06570	-1.0819	10	0.36615	T	0.2	.	9.5164	0.39109	0.2103:0.7896:0.0:0.0	.	37	P55318	FOXA3_HUMAN	I	37	ENSP00000304004:L37I	ENSP00000304004:L37I	L	+	1	0	FOXA3	51067212	0.076000	0.21285	1.000000	0.80357	0.495000	0.33615	0.331000	0.19733	2.236000	0.73375	0.297000	0.19635	CTC		0.642	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			6	118	6	118	---	---	---	---	A	46375372	C	A	46375372	3	1	157	1	0	0	0	0	1	0	0	0	5991	681	24	1	115	1	FOXA3	19	46375372	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	3534875	46375372	12753611	73	7049										
C5AR1	728	broad.mit.edu	37	chr19	47823991	47823991	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatccctccccagcctcctCcggaacgtgttgactgaaga	8	15	0	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.chr19:47823991C>A	ENST00000355085.3	+	2	979	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	319					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-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;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCAGCCTCCTCCGGAACGTGT	0.592																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(955-957)ctC>ctA		complement component 5a receptor 1							76	74	74					19																	47823991		2203	4300	6503	SO:0001819	synonymous_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823991C>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.957C>A	19.37:g.47823991C>A			Somatic					p.L319L	NM_001736.3	NP_001727.1	WXS	Illumina GAIIx	Phase_I	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	979	+		all_cancers(25;2e-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)	319						Silent	SNP	ENST00000355085.3	37	c.957C>A	CCDS33063.1																																																																																				0.592	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		5	125	5	125	---	---	---	---	A	47823991	C	A	47823991	2	1	157	1	0	0	0	0	0	0	0	1	2281	842	30	3		3	C5AR1	19	47823991	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	1448619	47823991	11304992	74	7050										
FAM83E	54854	broad.mit.edu	37	chr19	49107168	49107168	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtgcgtcactccacgtgaaGctgggggtcggggagtaggg	19	9	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.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.(757-759)agC>agT		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			Somatic					p.S253S	NM_017708.3	NP_060178.2	WXS	Illumina GAIIx	Phase_I	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.759C>T	CCDS42587.1																																																																																				0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	Silent	27	36	27	36	---	---	---	---	A	49107168	G	A	49107168	5	1	157	1	0	0	0	0	0	0	1	0	5637	985	34	2	685	2	FAM83E	19	49107168	Splice_Site	SNP	G	TCGA-HC-7080-01A-11D-1961-08	1283177	49107168	10021815	75	7051										
KLK4	9622	broad.mit.edu	37	chr19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgcgggctgcagtcctcgCcgtttatgatttggctgcag	14	10	0	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.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_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		Somatic					p.G34D	NM_004917.3	NP_004908.3	WXS	Illumina GAIIx	Phase_I	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	158	180	---	---	---	---	T	51412631	C	T	51412631	3	4	157	1	0	0	0	0	1	0	0	0	8406	739	26	2	679	2	KLK4	19	51412631	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	2305463	51412631	7716352	76	7052										
KLK5	25818	broad.mit.edu	37	chr19	51453323	51453323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttgctcccagagggcacGgtgttagaggggtggtcaca	17	8	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	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.T41T|KLK5_ENST00000593428.1_Silent_p.T41T|CTB-147C22.8_ENST00000601506.1_RNA	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			Somatic				KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	p.T41T	NM_012427.4	NP_036559	WXS	Illumina GAIIx	Phase_I	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	17	20	---	---	---	---	A	51453323	G	A	51453323	2	1	157	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	77	7053										
LILRB5	10990	broad.mit.edu	37	chr19	54755937	54755937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgagcatccatctccacccCgtccttgggctgtgtgtcct	9	17	1	0	rs144185169	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.chr19:54755937C>A	ENST00000316219.5	-	12	1713	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.G528W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W	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	536					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)		ATCTCCACCCCGTCCTTGGGC	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.(1582-1584)Ggg>Tgg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							117	115	116					19																	54755937		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54755937C>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.1606G>T	19.37:g.54755937C>A	ENSP00000320390:p.Gly536Trp		Somatic				LILRB5_ENST00000316219.5_Missense_Mutation_p.G536W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W	p.G528W			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	12	1659	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		536					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1582G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216603	0.22373	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00512	7.06;6.89;7.05;7.01	1.78	-0.626	0.11544	.	.	.	.	.	T	0.01029	0.0034	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.76494	0.989;0.999;0.988;0.995	P;D;P;D	0.75484	0.823;0.986;0.85;0.909	T	0.51505	-0.8697	9	0.87932	D	0	.	4.5438	0.12071	0.0:0.6324:0.0:0.3676	.	528;437;537;536	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	W	536;528;537;437	ENSP00000320390:G536W;ENSP00000414225:G528W;ENSP00000406478:G537W;ENSP00000263430:G437W	ENSP00000320390:G536W	G	-	1	0	LILRB5	59447749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.217000	0.02979	-0.066000	0.12998	-0.368000	0.07277	GGG		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	225	5	225	---	---	---	---	A	54755937	C	A	54755937	3	1	157	1	0	0	0	0	1	0	0	0	8794	652	23	1	174	1	LILRB5	19	54755937	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	3302614	54755937	4373046	78	7054										
NLRP8	126205	broad.mit.edu	37	chr19	56459478	56459478	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtactggcaccatgccCatcacctgggaccaggtcga	10	15	2	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.chr19:56459478C>A	ENST00000291971.3	+	1	281	c.210C>A	c.(208-210)ccC>ccA	p.P70P	NLRP8_ENST00000590542.1_Silent_p.P70P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	70	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)		GCACCATGCCCATCACCTGGG	0.542																																						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.(208-210)ccC>ccA		NLR family, pyrin domain containing 8							100	81	88					19																	56459478		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56459478C>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.210C>A	19.37:g.56459478C>A			Somatic				NLRP8_ENST00000590542.1_Silent_p.P70P	p.P70P	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	281	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	70			DAPIN.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.210C>A	CCDS12937.1																																																																																				0.542	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		4	42	4	42	---	---	---	---	A	56459478	C	A	56459478	2	1	157	1	0	0	0	0	0	0	0	1	10483	581	21	1		1	NLRP8	19	56459478	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	1703541	56459478	2669505	79	7055										
ZNF549	256051	broad.mit.edu	37	chr19	58049137	58049137	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtagggaatatgggaaatcCttgaactctaaatacttatt	8	6	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.chr19:58049137C>A	ENST00000376233.3	+	4	946	c.765C>A	c.(763-765)tcC>tcA	p.S255S	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	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)|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)		ATGGGAAATCCTTGAACTCTA	0.368																																						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.(763-765)tcC>tcA		zinc finger protein 549							74	76	75					19																	58049137		2203	4300	6503	SO:0001819	synonymous_variant	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049137C>A	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.765C>A	19.37:g.58049137C>A			Somatic				ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	p.S255S	NM_001199295.1	NP_001186224	WXS	Illumina GAIIx	Phase_I	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	946	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	255					B3KV91|O43336|Q8NAR4	Silent	SNP	ENST00000376233.3	37	c.765C>A	CCDS56106.1																																																																																				0.368	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		5	102	5	102	---	---	---	---	A	58049137	C	A	58049137	2	1	157	1	0	0	0	0	0	0	0	1	17978	668	24	1		1	ZNF549	19	58049137	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	1589659	58049137	1079846	80	7056										
SIRPB1	10326	broad.mit.edu	37	chr20	1551529	1551529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgctgactgcttgctgccCatcatgctccacctgacagg	9	14	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.chr20:1551529C>A	ENST00000381605.4	-	4	1070	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	336	Ig-like C1-type 2.				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						GCTTGCTGCCCATCATGCTCC	0.547																																						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.(1006-1008)Ggg>Tgg		signal-regulatory protein beta 1							203	178	187					20																	1551529		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551529C>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.1006G>T	20.37:g.1551529C>A	ENSP00000371018:p.Gly336Trp		Somatic				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	p.G336W	NM_006065.3	NP_006056.2	WXS	Illumina GAIIx	Phase_I	O00241	SIRB1_HUMAN			4	1070	-			336			Ig-like C1-type 2.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.1006G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065524	0.36470	.	.	ENSG00000101307	ENST00000381605	T	0.03524	3.9	2.51	1.4	0.22301	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.328184	0.26003	N	0.026937	T	0.19927	0.0479	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02109	-1.1212	10	0.87932	D	0	.	5.7514	0.18148	0.3173:0.6827:0.0:0.0	.	336	O00241	SIRB1_HUMAN	W	336	ENSP00000371018:G336W	ENSP00000371018:G336W	G	-	1	0	SIRPB1	1499529	0.004000	0.15560	0.096000	0.21009	0.110000	0.19582	-0.090000	0.11163	1.400000	0.46741	0.462000	0.41574	GGG		0.547	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	177	7	177	---	---	---	---	A	1551529	C	A	1551529	3	1	157	1	0	0	0	0	1	0	0	0	14333	594	21	1	198	1	SIRPB1	20	1551529	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		1551529	61473991	81	7057										
AHCY	191	broad.mit.edu	37	chr20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgccctatcctaccctccaTggcagcctgcagtgcgttga	9	15	0	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.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		Somatic				AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	p.M226V	NM_001161766.1	NP_001155238.1	WXS	Illumina GAIIx	Phase_I	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	86	102	---	---	---	---	C	32878543	T	C	32878543	3	2	157	1	0	0	0	0	1	0	0	0	409	1464	51	2	558	2	AHCY	20	32878543	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08	31327014	32878543	30146977	82	7058										
GGT7	2686	broad.mit.edu	37	chr20	33448108	33448108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttcaccattccgggaaccCccaccaagagcccaggctgg	9	18	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.chr20:33448108C>A	ENST00000336431.5	-	5	736	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	231					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						TCCGGGAACCCCCACCAAGAG	0.642																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(691-693)gGg>gTg		gamma-glutamyltransferase 7							55	52	53					20																	33448108		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33448108C>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.692G>T	20.37:g.33448108C>A	ENSP00000338964:p.Gly231Val		Somatic					p.G231V	NM_178026.2	NP_821158.2	WXS	Illumina GAIIx	Phase_I	Q9UJ14	GGT7_HUMAN			5	736	-			231					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.692G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390012	0.82902	.	.	ENSG00000131067	ENST00000336431	T	0.10005	2.92	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65446	-0.6166	10	0.87932	D	0	-21.0243	18.5639	0.91111	0.0:1.0:0.0:0.0	.	231;231	A4FU32;Q9UJ14	.;GGT7_HUMAN	V	231	ENSP00000338964:G231V	ENSP00000338964:G231V	G	-	2	0	GGT7	32911769	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.205000	0.77881	2.448000	0.82819	0.462000	0.41574	GGG		0.642	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		5	81	5	81	---	---	---	---	A	33448108	C	A	33448108	3	1	157	1	0	0	0	0	1	0	0	0	6364	623	22	1	1340	1	GGT7	20	33448108	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	569565	33448108	29577412	83	7059										
ZFP64	55734	broad.mit.edu	37	chr20	50776704	50776704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgagctggctggagttgcGgctggcgtaggggcagatct	19	7	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.chr20:50776704G>T	ENST00000216923.4	-	5	1070	c.721C>A	c.(721-723)Cgc>Agc	p.R241S	ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	241					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						CTGGAGTTGCGGCTGGCGTAG	0.577																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(721-723)Cgc>Agc		ZFP64 zinc finger protein							121	125	123					20																	50776704		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776704G>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.721C>A	20.37:g.50776704G>T	ENSP00000216923:p.Arg241Ser		Somatic				ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S	p.R241S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			5	1070	-			241					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.721C>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592488	0.86953	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.26957	1.7;1.7;2.55;2.55;2.55	6.17	5.15	0.70609	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.53938	D	0.000050	T	0.36110	0.0955	L	0.33339	1.005	0.54753	D	0.999981	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.78314	0.978;0.991;0.977;0.986	T	0.01720	-1.1288	10	0.02654	T	1	-31.0632	18.3378	0.90294	0.0:0.0:0.8733:0.1267	.	187;239;241;241	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	S	241;241;241;187;239;83;394	ENSP00000360573:R241S;ENSP00000355179:R241S;ENSP00000216923:R241S;ENSP00000344615:R187S;ENSP00000360570:R239S	ENSP00000216923:R241S	R	-	1	0	ZFP64	50210111	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.538000	0.67193	2.941000	0.99782	0.655000	0.94253	CGC		0.577	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		6	154	6	154	---	---	---	---	T	50776704	G	T	50776704	3	4	157	1	0	0	0	0	1	0	0	0	17649	1116	39	1	2523	1	ZFP64	20	50776704	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	17328596	50776704	12248816	84	7060										
RNF160	26046	broad.mit.edu	37	chr21	30331780	30331780	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgagcagtaggctattacCtggcaaatgtgttttttctt	9	6	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.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																																						ENST00000389194.2																			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.(2731-2733)Gat>Tat		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			Somatic				LTN1_ENST00000361371.5_Splice_Site_p.D865Y	p.D911Y	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			13	2736	-			865					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	ENST00000361371.5	37	c.2731G>T		.	.	.	.	.	.	.	.	.	.	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	6	229	---	---	---	---	A	30331780	C	A	30331780	5	1	157	1	0	0	0	0	0	0	1	0	13455	695	24	1	2779	1	RNF160	21	30331780	Splice_Site	SNP	C	TCGA-HC-7080-01A-11D-1961-08		30331780	17798115	85	7061										
HUNK	30811	broad.mit.edu	37	chr21	33297008	33297008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggaggagtccgaagccCgcagatacatccgacagctc	13	13	0	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.chr21:33297008C>A	ENST00000270112.2	+	2	850	c.490C>A	c.(490-492)Cgc>Agc	p.R164S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	164	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						GTCCGAAGCCCGCAGATACAT	0.597																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(490-492)Cgc>Agc		hormonally up-regulated Neu-associated kinase							69	73	71					21																	33297008		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33297008C>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.490C>A	21.37:g.33297008C>A	ENSP00000270112:p.Arg164Ser		Somatic					p.R164S	NM_014586.1	NP_055401.1	WXS	Illumina GAIIx	Phase_I	P57058	HUNK_HUMAN			2	850	+			164			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.490C>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825979	0.71143	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.26810	1.71;1.71	4.73	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138367	0.47093	D	0.000256	T	0.50377	0.1612	M	0.77820	2.39	0.46954	D	0.999265	D	0.76494	0.999	D	0.73708	0.981	T	0.54649	-0.8262	10	0.87932	D	0	-26.4284	12.9488	0.58388	0.1618:0.8382:0.0:0.0	.	164	P57058	HUNK_HUMAN	S	164;49	ENSP00000270112:R164S;ENSP00000411860:R49S	ENSP00000270112:R164S	R	+	1	0	HUNK	32218879	0.996000	0.38824	1.000000	0.80357	0.912000	0.54170	3.303000	0.51858	2.444000	0.82710	0.557000	0.71058	CGC		0.597	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		4	135	4	135	---	---	---	---	A	33297008	C	A	33297008	3	1	157	1	0	0	0	0	1	0	0	0	7458	652	23	1	496	1	HUNK	21	33297008	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	2965228	33297008	14832887	86	7062										
MX1	4599	broad.mit.edu	37	chr21	42817984	42817984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaaggagaggaaactgtaGgggaggaagacattcggctg	17	5	0	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.chr21:42817984G>T	ENST00000398600.2	+	15	2214	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W|MX1_ENST00000398598.3_Missense_Mutation_p.G397W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	397	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)				GGAAACTGTAGGGGAGGAAGA	0.403																																						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.(1189-1191)Ggg>Tgg		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							105	97	100					21																	42817984		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.chr21:42817984G>T		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.1189G>T	21.37:g.42817984G>T	ENSP00000381601:p.Gly397Trp		Somatic				MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W	p.G397W	NM_001144925.1	NP_001138397.1	WXS	Illumina GAIIx	Phase_I	P20591	MX1_HUMAN			15	2214	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	397					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1189G>T	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	9.284	1.048921	0.19827	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.72	0.633	0.17712	Dynamin central domain (1);	0.578708	0.19743	N	0.107080	T	0.57489	0.2057	L	0.51422	1.61	0.09310	N	1	B	0.18013	0.025	B	0.27076	0.076	T	0.47420	-0.9119	10	0.38643	T	0.18	-7.4041	1.7259	0.02921	0.242:0.1417:0.4709:0.1454	.	397	P20591	MX1_HUMAN	W	397;397;397;374	ENSP00000381601:G397W;ENSP00000381599:G397W;ENSP00000410523:G397W;ENSP00000288383:G374W	ENSP00000288383:G374W	G	+	1	0	MX1	41739854	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.289000	0.18957	-0.012000	0.14223	0.655000	0.94253	GGG		0.403	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			5	95	5	95	---	---	---	---	T	42817984	G	T	42817984	3	4	157	1	0	0	0	0	1	0	0	0	9997	1000	35	1	1223	1	MX1	21	42817984	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	9520976	42817984	5311911	87	7063										
ARMCX2	9823	broad.mit.edu	37	chrX	100912074	100912074	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggaagtctccgcttctctGggagcttctgccactttggg	12	12	3	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.chrX:100912074G>T	ENST00000328766.5	-	5	954	c.501C>A	c.(499-501)ccC>ccA	p.P167P	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	167	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCGCTTCTCTGGGAGCTTCTG	0.647																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(499-501)ccC>ccA		armadillo repeat containing, X-linked 2							27	29	29					X																	100912074		2199	4280	6479	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100912074G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.501C>A	X.37:g.100912074G>T			Somatic				ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P	p.P167P	NM_014782.5	NP_055597.1	WXS	Illumina GAIIx	Phase_I	Q7L311	ARMX2_HUMAN			5	954	-			167			Ala-rich.		O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.501C>A	CCDS14490.1																																																																																				0.647	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		4	68	4	68	---	---	---	---	T	100912074	G	T	100912074	2	4	157	1	0	0	0	0	0	0	0	1	960	1335	47	1		1	ARMCX2	23	100912074	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		100912074	54358486	88	7064										
RAB40A	142684	broad.mit.edu	37	chrX	102755042	102755042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtggcttcttaaggtactggGgagcgggagcttgtccacca	15	9	1	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.chrX:102755042G>T	ENST00000372633.1	-	1	2761	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	215	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGGTACTGGGGAGCGGGAGC	0.597																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(643-645)Ccc>Acc		RAB40A, member RAS oncogene family							127	109	115					X																	102755042		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755042G>T	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.643C>A	X.37:g.102755042G>T	ENSP00000361716:p.Pro215Thr		Somatic				LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T	p.P215T			WXS	Illumina GAIIx	Phase_I	Q8WXH6	RB40A_HUMAN			1	2761	-			215			SOCS box.		O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.643C>A	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242363	0.39598	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	D;D	0.88586	-2.4;-2.4	0.225	0.225	0.15325	SOCS protein, C-terminal (4);	0.000000	0.45126	U	0.000383	D	0.93099	0.7803	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90641	0.4575	10	0.87932	D	0	.	6.1796	0.20463	4.0E-4:0.0:0.9996:0.0	.	215	Q8WXH6	RB40A_HUMAN	T	215	ENSP00000361716:P215T;ENSP00000305648:P215T	ENSP00000305648:P215T	P	-	1	0	RAB40A	102641698	1.000000	0.71417	0.036000	0.18154	0.037000	0.13140	6.590000	0.74085	0.280000	0.22209	0.284000	0.19432	CCC		0.597	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			5	92	5	92	---	---	---	---	T	102755042	G	T	102755042	3	4	157	1	0	0	0	0	1	0	0	0	12939	1232	43	1	194	1	RAB40A	23	102755042	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	1842968	102755042	52515518	89	7065										
CCNL2	81669	broad.mit.edu	37	chr1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcttcttcagttgctccaaaCaaaagaaaccaatggggacg	8	10	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.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F	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		Somatic				CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	p.L265F	NM_030937.4	NP_112199.2	WXS	Illumina GAIIx	Phase_I	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	23	78	---	---	---	---	G	1325908	C	G	1325908	3	3	158	1	0	0	0	0	1	0	0	0	2932	477	17	4	787	4	CCNL2	1	1325908	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		1325908	247924713	1	7066										
ENO1	2023	broad.mit.edu	37	chr1	8926490	8926490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgaagtttgctgcaccgactGggaggatcatgaactcctgc	12	10	1	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.chr1:8926490G>T	ENST00000234590.4	-	7	634	c.515C>A	c.(514-516)cCa>cAa	p.P172Q		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	172	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)		TGCACCGACTGGGAGGATCAT	0.522																																					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.(514-516)cCa>cAa		enolase 1, (alpha)							132	125	127					1																	8926490		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.chr1:8926490G>T	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.515C>A	1.37:g.8926490G>T	ENSP00000234590:p.Pro172Gln		Somatic					p.P172Q	NM_001428.3	NP_001419.1	WXS	Illumina GAIIx	Phase_I	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	634	-	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)	172			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.515C>A	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681771	0.88542	.	.	ENSG00000074800	ENST00000234590	T	0.59772	0.24	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.054186	0.85682	D	0.000000	D	0.86826	0.6026	H	0.99169	4.455	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	0.988;0.992;0.999;0.979;1.0	D	0.92522	0.6026	10	0.87932	D	0	-25.9433	18.013	0.89230	0.0:0.0:1.0:0.0	.	76;139;10;79;172	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	Q	172	ENSP00000234590:P172Q	ENSP00000234590:P172Q	P	-	2	0	ENO1	8849077	1.000000	0.71417	0.856000	0.33681	0.795000	0.44927	9.824000	0.99380	2.492000	0.84095	0.563000	0.77884	CCA		0.522	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		6	167	6	167	---	---	---	---	T	8926490	G	T	8926490	3	4	158	1	0	0	0	0	1	0	0	0	5121	1348	47	1	813	1	ENO1	1	8926490	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	7600582	8926490	240324131	2	7067										
MTOR	2475	broad.mit.edu	37	chr1	11294298	11294298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctctttgattcttccaatccCactgtgctccaactctgtca	4	15	4	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.chr1:11294298C>A	ENST00000361445.4	-	14	2309	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	745					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)	CTTCCAATCCCACTGTGCTCC	0.502																																						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.(2233-2235)Ggg>Tgg		mechanistic target of rapamycin (serine/threonine kinase)							133	141	138					1																	11294298		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.chr1:11294298C>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.2233G>T	1.37:g.11294298C>A	ENSP00000354558:p.Gly745Trp		Somatic					p.G745W	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			14	2309	-			745					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2233G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825300	0.90955	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65732	-0.17	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86638	0.1890	10	0.87932	D	0	.	19.8344	0.96650	0.0:1.0:0.0:0.0	.	745	P42345	MTOR_HUMAN	W	745	ENSP00000354558:G745W	ENSP00000354558:G745W	G	-	1	0	MTOR	11216885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.696000	0.92011	0.561000	0.74099	GGG		0.502	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		6	215	6	215	---	---	---	---	A	11294298	C	A	11294298	3	1	158	1	0	0	0	0	1	0	0	0	9954	594	21	1	5596	1	MTOR	1	11294298	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2367808	11294298	237956323	3	7068										
CLCN6	1185	broad.mit.edu	37	chr1	11889286	11889286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctccttgtgtctctggtaacCaccgtggtggtgtttgtggc	13	10	1	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.chr1:11889286C>A	ENST00000346436.6	+	13	1207	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000312413.6_Missense_Mutation_p.H330N|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.T385T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	385					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)		CTCTGGTAACCACCGTGGTGG	0.493																																						ENST00000312413.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(988-990)Cac>Aac		chloride channel, voltage-sensitive 6							237	220	226					1																	11889286		2203	4300	6503	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.chr1:11889286C>A	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.1155C>A	1.37:g.11889286C>A			Somatic				CLCN6_ENST00000376496.3_Silent_p.T385T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000346436.6_Silent_p.T385T	p.H330N			WXS	Illumina GAIIx	Phase_I	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)	12	1101	+	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)	0					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.988C>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200462	0.38905	.	.	ENSG00000011021	ENST00000312413;ENST00000376492	D	0.91894	-2.93	6.17	5.26	0.73747	.	.	.	.	.	D	0.88373	0.6419	.	.	.	0.23277	N	0.997994	B	0.02656	0.0	B	0.04013	0.001	T	0.81037	-0.1114	8	0.87932	D	0	-33.121	11.0753	0.48027	0.2431:0.6352:0.1217:0.0	.	330	P51797-3	.	N	330	ENSP00000308367:H330N	ENSP00000308367:H330N	H	+	1	0	CLCN6	11811873	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.994000	0.29693	1.601000	0.50113	0.655000	0.94253	CAC		0.493	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		7	192	7	192	---	---	---	---	A	11889286	C	A	11889286	2	1	158	1	0	0	0	0	0	0	0	1	3467	594	21	1		1	CLCN6	1	11889286	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	594988	11889286	237361335	4	7069										
NPPB	4879	broad.mit.edu	37	chr1	11918865	11918865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agagcaggagcaggagcgccCgggaaggtgctgtctgggga	20	8	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.chr1:11918865C>A	ENST00000376468.3	-	1	123	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	9					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CAGGAGCGCCCGGGAAGGTGC	0.652																																						ENST00000376468.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(25-27)cGg>cTg		natriuretic peptide B	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						71	86	81					1																	11918865		2203	4300	6503	SO:0001583	missense	4879				body fluid secretion|cGMP biosynthetic process|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	extracellular space	diuretic hormone activity	g.chr1:11918865C>A	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.26G>T	1.37:g.11918865C>A	ENSP00000365651:p.Arg9Leu		Somatic					p.R9L	NM_002521.2	NP_002512.1	WXS	Illumina GAIIx	Phase_I	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	123	-	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)	9					B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	c.26G>T	CCDS140.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825338	0.50739	.	.	ENSG00000120937	ENST00000376468	T	0.25579	1.79	4.48	1.58	0.23477	.	0.971845	0.08505	N	0.935894	T	0.35885	0.0947	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	P	0.57244	0.816	T	0.16928	-1.0386	10	0.36615	T	0.2	.	5.7646	0.18219	0.0:0.6529:0.0:0.3471	.	9	P16860	ANFB_HUMAN	L	9	ENSP00000365651:R9L	ENSP00000365651:R9L	R	-	2	0	NPPB	11841452	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.811000	0.27198	0.159000	0.19401	-0.136000	0.14681	CGG		0.652	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		4	99	4	99	---	---	---	---	A	11918865	C	A	11918865	3	1	158	1	0	0	0	0	1	0	0	0	10592	652	23	1	390	1	NPPB	1	11918865	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	29579	11918865	237331756	5	7070										
VPS13D	55187	broad.mit.edu	37	chr1	12567061	12567061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccttgtctccaaagaccatGggaaggtgtatgtgcaggtg	14	8	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.chr1:12567061G>T	ENST00000358136.3	+	69	13079	c.12949G>T	c.(12949-12951)Ggg>Tgg	p.G4317W	SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|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)		CAAAGACCATGGGAAGGTGTA	0.532																																						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.(12949-12951)Ggg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							147	139	141					1																	12567061		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12567061G>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.12949G>T	1.37:g.12567061G>T	ENSP00000350854:p.Gly4317Trp		Somatic				VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W	p.G4317W	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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)	69	13079	+	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)	4316						Missense_Mutation	SNP	ENST00000358136.3	37	c.12949G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.085036|5.085036	0.94100|0.94100	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.78816|.	0.48;0.48;-1.21|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73908|0.73908	0.3647|0.3647	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.77004|.	0.962;0.989;0.988|.	T|T	0.69347|0.69347	-0.5169|-0.5169	10|5	0.66056|.	D|.	0.02|.	.|.	20.2279|20.2279	0.98344|0.98344	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;4292;4316|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	W|I	4292;4317;315;121|3138	ENSP00000348666:G4292W;ENSP00000350854:G4317W;ENSP00000441122:G315W|.	ENSP00000348666:G4292W|.	G|M	+|+	1|3	0|0	VPS13D|VPS13D	12489648|12489648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.391000|9.391000	0.97249|0.97249	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GGG|ATG		0.532	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	141	6	141	---	---	---	---	T	12567061	G	T	12567061	3	4	158	1	0	0	0	0	1	0	0	0	17189	1348	47	1	13219	1	VPS13D	1	12567061	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	648196	12567061	236683560	6	7071										
NBPF1	55672	broad.mit.edu	37	chr1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-													0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	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_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_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)gagfs		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		Somatic				NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E897fs	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	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	158	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	4326761	16893822	232356799	7	7072										
PADI3	51702	broad.mit.edu	37	chr1	17586228	17586228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	catcgtggtcatgaactcccCcagcaatgacctcaacgaca	7	15	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.chr1:17586228C>A	ENST00000375460.3	+	2	288	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	83					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)	ATGAACTCCCCCAGCAATGAC	0.597																																						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.(247-249)cCc>cAc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						71	55	60					1																	17586228		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17586228C>A	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.248C>A	1.37:g.17586228C>A	ENSP00000364609:p.Pro83His		Somatic					p.P83H	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	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)	2	288	+		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)	83					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.248C>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980346	0.74474	.	.	ENSG00000142619	ENST00000375460	T	0.11385	2.78	5.2	5.2	0.72013	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.134229	0.51477	D	0.000094	T	0.27900	0.0687	M	0.68317	2.08	0.33352	D	0.571187	D	0.76494	0.999	D	0.71870	0.975	T	0.37526	-0.9702	10	0.87932	D	0	-28.0261	9.9168	0.41439	0.0:0.9072:0.0:0.0928	.	83	Q9ULW8	PADI3_HUMAN	H	83	ENSP00000364609:P83H	ENSP00000364609:P83H	P	+	2	0	PADI3	17458815	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.854000	0.55949	2.421000	0.82119	0.563000	0.77884	CCC		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			5	54	5	54	---	---	---	---	A	17586228	C	A	17586228	3	1	158	1	0	0	0	0	1	0	0	0	11379	623	22	1	254	1	PADI3	1	17586228	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	692406	17586228	231664393	8	7073										
UBR4	23352	broad.mit.edu	37	chr1	19477100	19477100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acagttccactggtcgtagtGggggcagctgagtcgctatc	14	10	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.chr1:19477100G>T	ENST00000375254.3	-	49	7428	c.7401C>A	c.(7399-7401)ccC>ccA	p.P2467P	UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375267.2_Silent_p.P2467P|UBR4_ENST00000375217.2_Silent_p.P2467P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2467					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)		TGGTCGTAGTGGGGGCAGCTG	0.532																																						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.(7399-7401)ccC>ccA		ubiquitin protein ligase E3 component n-recognin 4							101	99	99					1																	19477100		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.chr1:19477100G>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.7401C>A	1.37:g.19477100G>T			Somatic				UBR4_ENST00000375217.2_Silent_p.P2467P|UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375254.3_Silent_p.P2467P	p.P2467P			WXS	Illumina GAIIx	Phase_I	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)	49	7404	-		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)	2467					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.7401C>A	CCDS189.1																																																																																				0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	156	8	156	---	---	---	---	T	19477100	G	T	19477100	2	4	158	1	0	0	0	0	0	0	0	1	16901	1335	47	1		1	UBR4	1	19477100	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1890872	19477100	229773521	9	7074										
ALPL	249	broad.mit.edu	37	chr1	21889689	21889689	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaggccaatgagggcaccgtGggggtaagcgcagccactga	16	10	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.chr1:21889689G>T	ENST00000374840.3	+	5	634	c.384G>T	c.(382-384)gtG>gtT	p.V128V	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	128			V -> M (in HOPS). {ECO:0000269|PubMed:11855933}.		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)	AGGGCACCGTGGGGGTAAGCG	0.662																																						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.(382-384)gtG>gtT		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						81	73	76					1																	21889689		2203	4300	6503	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.chr1:21889689G>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.384G>T	1.37:g.21889689G>T			Somatic				ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V|ALPL_ENST00000468526.1_3'UTR	p.V128V	NM_000478.4	NP_000469.3	WXS	Illumina GAIIx	Phase_I	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)	5	634	+		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)	128		V -> M (in HOPS).			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.384G>T	CCDS217.1																																																																																				0.662	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		5	85	5	85	---	---	---	---	T	21889689	G	T	21889689	2	4	158	1	0	0	0	0	0	0	0	1	547	1335	47	1		1	ALPL	1	21889689	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2412589	21889689	227360932	10	7075										
RPL11	6135	broad.mit.edu	37	chr1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggagaaccccatgcgggaaCttcgcatccgcaaactctgt	10	13	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.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		Somatic				RPL11_ENST00000482370.1_3'UTR	p.L15F	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	WXS	Illumina GAIIx	Phase_I	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	8	145	---	---	---	---	T	24019135	C	T	24019135	3	4	158	1	0	0	0	0	1	0	0	0	13557	565	20	2	49	2	RPL11	1	24019135	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2129446	24019135	225231486	11	7076										
ZNF593	51042	broad.mit.edu	37	chr1	26496949	26496949	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccaacctgaagacccacttcCgatccaaagaccacaagaaa	5	15	0	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.chr1:26496949C>A	ENST00000374266.5	+	2	354	c.241C>A	c.(241-243)Cga>Aga	p.R81R	ZNF593_ENST00000270812.5_Silent_p.R81R|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000448923.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593	81					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R81*(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507																																						ENST00000270812.5																			1	Substitution - Nonsense(1)	p.R81*(1)	large_intestine(1)	large_intestine(4)|prostate(1)	5						c.(241-243)Cga>Aga		zinc finger protein 593							229	228	228					1																	26496949		2203	4300	6503	SO:0001819	synonymous_variant	51042				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	g.chr1:26496949C>A	D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.241C>A	1.37:g.26496949C>A			Somatic				RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000374266.5_Silent_p.R81R|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA	p.R81R			WXS	Illumina GAIIx	Phase_I	O00488	ZN593_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	2	283	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	81					B2R4S0|Q5T2H7	Silent	SNP	ENST00000374266.5	37	c.241C>A	CCDS275.2																																																																																				0.507	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871		6	238	6	238	---	---	---	---	A	26496949	C	A	26496949	2	1	158	1	0	0	0	0	0	0	0	1	18020	644	23	1		1	ZNF593	1	26496949	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2477814	26496949	222753672	12	7077										
CATSPER4	378807	broad.mit.edu	37	chr1	26524858	26524858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tacaggttgcgctgtacaccCtcttcatctgcatcacccag	7	15	4	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.chr1:26524858C>A	ENST00000456354.2	+	6	827	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					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)		GCTGTACACCCTCTTCATCTG	0.527																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(760-762)Ctc>Atc		cation channel, sperm associated 4							166	163	164					1																	26524858		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.chr1:26524858C>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.760C>A	1.37:g.26524858C>A	ENSP00000390423:p.Leu254Ile		Somatic					p.L254I	NM_198137.1	NP_937770.1	WXS	Illumina GAIIx	Phase_I	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)	6	827	+		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)	254					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.760C>A	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648945	0.67358	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97598	-4.45;-4.45	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.47852	D	0.000205	D	0.97904	0.9311	M	0.72479	2.2	0.39188	D	0.962919	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98681	1.0692	10	0.51188	T	0.08	-30.2332	13.1463	0.59463	0.0:1.0:0.0:0.0	.	254;238	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	I	254	ENSP00000341006:L254I;ENSP00000390423:L254I	ENSP00000341006:L254I	L	+	1	0	CATSPER4	26397445	0.996000	0.38824	0.999000	0.59377	0.702000	0.40608	4.476000	0.60216	2.231000	0.72958	0.467000	0.42956	CTC		0.527	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		7	199	7	199	---	---	---	---	A	26524858	C	A	26524858	3	1	158	1	0	0	0	0	1	0	0	0	2690	681	24	1	782	1	CATSPER4	1	26524858	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	27909	26524858	222725763	13	7078										
FCN3	8547	broad.mit.edu	37	chr1	27699642	27699642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcaccagccagccgcccccCtcggtgtccatgtcacaaaa	7	19	2	0	rs369579099		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.chr1:27699642C>A	ENST00000270879.4	-	5	383	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGCCCCCCTCGGTGTCCA	0.647																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(376-378)gaG>gaT		ficolin (collagen/fibrinogen domain containing) 3							51	58	55					1																	27699642		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27699642C>A	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.378G>T	1.37:g.27699642C>A	ENSP00000270879:p.Glu126Asp		Somatic				FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	p.E126D	NM_003665.2	NP_003656.2	WXS	Illumina GAIIx	Phase_I	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	383	-		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)	126			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.378G>T	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	0.328	-0.957965	0.02267	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.75821	-0.97;-0.97	4.63	-6.61	0.01818	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.683120	0.04405	N	0.365026	T	0.40595	0.1123	N	0.03294	-0.36	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48885	-0.8995	10	0.02654	T	1	.	4.8288	0.13430	0.304:0.3559:0.0:0.3401	.	115;126	Q6UXM4;O75636	.;FCN3_HUMAN	D	126;115;4	ENSP00000270879:E126D;ENSP00000347077:E115D	ENSP00000270879:E126D	E	-	3	2	FCN3	27572229	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.679000	0.05203	-0.729000	0.04875	-1.105000	0.02106	GAG		0.647	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			6	94	6	94	---	---	---	---	A	27699642	C	A	27699642	3	1	158	1	0	0	0	0	1	0	0	0	5793	680	24	1	537	1	FCN3	1	27699642	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1174784	27699642	221550979	14	7079										
MACF1	23499	broad.mit.edu	37	chr1	39747939	39747939	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcagccaaggagaaactactCctgtggacccagaaggtgac	11	11	1	3	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_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000564288.1_Silent_p.L196L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L			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			Somatic				MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000372915.3_Silent_p.L201L	p.L196L			WXS	Illumina GAIIx	Phase_I	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	7	92	---	---	---	---	T	39747939	C	T	39747939	2	4	158	1	0	0	0	0	0	0	0	1	9144	842	30	2		2	MACF1	1	39747939	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12048297	39747939	209502682	15	7080										
CDC20	991	broad.mit.edu	37	chr1	43825890	43825890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	accttgtggattggagttctGggaatgtactggccgtggca	15	7	1	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.chr1:43825890G>T	ENST00000372462.1	+	5	786	c.583G>T	c.(583-585)Ggg>Tgg	p.G195W	CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	195					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)				TTGGAGTTCTGGGAATGTACT	0.532																																					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.(583-585)Ggg>Tgg		cell division cycle 20							151	143	145					1																	43825890		2203	4300	6503	SO:0001583	missense	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.chr1:43825890G>T	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.583G>T	1.37:g.43825890G>T	ENSP00000361540:p.Gly195Trp		Somatic				CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|CDC20_ENST00000478882.1_3'UTR	p.G195W			WXS	Illumina GAIIx	Phase_I	Q12834	CDC20_HUMAN			5	786	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	195					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.583G>T	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595520	0.66219	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.42131	0.98;0.98	5.85	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.303235	0.38548	N	0.001645	T	0.37732	0.1014	L	0.33339	1.005	0.36146	D	0.847111	P	0.47409	0.895	P	0.48227	0.571	T	0.50499	-0.8821	10	0.72032	D	0.01	-4.4905	9.1244	0.36805	0.0838:0.3046:0.6116:0.0	.	195	Q12834	CDC20_HUMAN	W	171;195;195	ENSP00000308450:G195W;ENSP00000361540:G195W	ENSP00000308450:G195W	G	+	1	0	CDC20	43598477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	1.478000	0.48253	0.655000	0.94253	GGG		0.532	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		6	149	6	149	---	---	---	---	T	43825890	G	T	43825890	3	4	158	1	0	0	0	0	1	0	0	0	3059	1348	47	1	601	1	CDC20	1	43825890	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4077951	43825890	205424731	16	7081										
KLF17	128209	broad.mit.edu	37	chr1	44595197	44595197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggggcagaatgtgaatgaagGggggccacagttcagtatgc	17	6	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.chr1:44595197G>T	ENST00000372299.3	+	2	312	c.254G>T	c.(253-255)gGg>gTg	p.G85V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	85					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGAATGAAGGGGGGCCACAG	0.557																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(253-255)gGg>gTg		Kruppel-like factor 17							75	74	74					1																	44595197		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595197G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.254G>T	1.37:g.44595197G>T	ENSP00000361373:p.Gly85Val		Somatic				KLF17_ENST00000476802.1_3'UTR	p.G85V	NM_173484.3	NP_775755.3	WXS	Illumina GAIIx	Phase_I	Q5JT82	KLF17_HUMAN			2	312	+	Acute lymphoblastic leukemia(166;0.155)		85					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.254G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	5.903	0.350678	0.11182	.	.	ENSG00000171872	ENST00000372299	T	0.07114	3.22	4.17	0.262	0.15597	.	1.489390	0.04165	N	0.323733	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	10	0.12430	T	0.62	.	5.8558	0.18718	0.1531:0.0:0.4597:0.3871	.	85	Q5JT82	KLF17_HUMAN	V	85	ENSP00000361373:G85V	ENSP00000361373:G85V	G	+	2	0	KLF17	44367784	0.132000	0.22450	0.000000	0.03702	0.001000	0.01503	-0.122000	0.10627	0.021000	0.15133	-1.099000	0.02127	GGG		0.557	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		6	102	6	102	---	---	---	---	T	44595197	G	T	44595197	3	4	158	1	0	0	0	0	1	0	0	0	8345	1232	43	1	260	1	KLF17	1	44595197	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	769307	44595197	204655424	17	7082										
PLK3	1263	broad.mit.edu	37	chr1	45271171	45271171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtgtgcaggtgaacttctacGgggaccacaccaagctgatt	12	10	1	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.chr1:45271171G>T	ENST00000372201.4	+	15	2001	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	PLK3_ENST00000465443.1_3'UTR|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	588	POLO box 2. {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)					GAACTTCTACGGGGACCACAC	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.(1762-1764)Ggg>Tgg		polo-like kinase 3							230	223	226					1																	45271171		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271171G>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.1762G>T	1.37:g.45271171G>T	ENSP00000361275:p.Gly588Trp		Somatic				PLK3_ENST00000465443.1_3'UTR	p.G588W	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	Q9H4B4	PLK3_HUMAN			15	2001	+	Acute lymphoblastic leukemia(166;0.155)		588			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1762G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668241	0.47677	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.11495	2.77	5.83	4.91	0.64330	POLO box duplicated domain (2);	.	.	.	.	T	0.16428	0.0395	L	0.27053	0.805	0.31729	N	0.637334	D	0.71674	0.998	D	0.73708	0.981	T	0.12708	-1.0537	9	0.66056	D	0.02	-17.2465	4.0079	0.09610	0.2036:0.0:0.6093:0.1871	.	588	Q9H4B4	PLK3_HUMAN	W	588;563	ENSP00000361275:G588W	ENSP00000361275:G588W	G	+	1	0	PLK3	45043758	0.990000	0.36364	0.988000	0.46212	0.976000	0.68499	3.867000	0.56047	2.750000	0.94351	0.655000	0.94253	GGG		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		6	268	6	268	---	---	---	---	T	45271171	G	T	45271171	3	4	158	1	0	0	0	0	1	0	0	0	12097	1116	39	1	1820	1	PLK3	1	45271171	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	675974	45271171	203979450	18	7083										
EPS15	2060	broad.mit.edu	37	chr1	51869093	51869093	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tataaaatcattttttacctCttttgaatgtctattattgt	3	5	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.chr1:51869093C>A	ENST00000371733.3	-	17	1885	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	597					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						TTTTTTACCTCTTTTGAATGT	0.363			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.(1789-1791)Gag>Tag		epidermal growth factor receptor pathway substrate 15							95	95	95					1																	51869093		2203	4300	6503	SO:0001587	stop_gained	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.chr1:51869093C>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.1789G>T	1.37:g.51869093C>A	ENSP00000360798:p.Glu597*		Somatic				EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	p.E597*	NM_001981.2	NP_001972.1	WXS	Illumina GAIIx	Phase_I	P42566	EPS15_HUMAN			17	1885	-			597					B2R8J7|D3DPJ2|Q5SRH4	Nonsense_Mutation	SNP	ENST00000371733.3	37	c.1789G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085891	0.94100	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	.	.	.	4.6	3.69	0.42338	.	0.000000	0.32736	N	0.005713	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	10.5457	0.45058	0.0:0.9081:0.0:0.0919	.	.	.	.	X	463;597;274	.	ENSP00000360795:E463X	E	-	1	0	EPS15	51641681	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.200000	0.32247	1.552000	0.49463	0.591000	0.81541	GAG		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		5	68	5	68	---	---	---	---	A	51869093	C	A	51869093	4	1	158	1	0	0	0	0	0	1	0	0	5192	922	32	3	937	3	EPS15	1	51869093	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6597922	51869093	197381528	19	7084										
PODN	127435	broad.mit.edu	37	chr1	53540284	53540284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cctgtcctttgaagggctccCagagaaggcgtttgagcatc	12	11	0	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.chr1:53540284C>A	ENST00000312553.5	+	4	564	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.P167Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	138					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						GAAGGGCTCCCAGAGAAGGCG	0.612																																						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.(499-501)cCa>cAa		podocan							163	161	162					1																	53540284		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.chr1:53540284C>A	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.557C>A	1.37:g.53540284C>A	ENSP00000308315:p.Pro186Gln		Somatic				PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.P186Q|RP11-334A14.5_ENST00000447867.1_RNA	p.P167Q	NM_001199080.1	NP_001186009.1	WXS	Illumina GAIIx	Phase_I	Q7Z5L7	PODN_HUMAN			6	841	+			138					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.500C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094648	0.76870	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.59502	0.26;1.8	5.65	5.65	0.86999	.	0.321084	0.33127	N	0.005255	T	0.69940	0.3167	L	0.49350	1.555	0.80722	D	1	P;D	0.62365	0.804;0.991	B;P	0.59825	0.342;0.864	T	0.70443	-0.4870	10	0.59425	D	0.04	.	19.7405	0.96228	0.0:1.0:0.0:0.0	.	167;186	Q7Z5L7-2;Q7Z5L7-3	.;.	Q	167;186	ENSP00000360555:P167Q;ENSP00000308315:P186Q	ENSP00000308315:P186Q	P	+	2	0	PODN	53312872	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	5.156000	0.64905	2.655000	0.90218	0.655000	0.94253	CCA		0.612	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		7	229	7	229	---	---	---	---	A	53540284	C	A	53540284	3	1	158	1	0	0	0	0	1	0	0	0	12178	594	21	1	571	1	PODN	1	53540284	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1671191	53540284	195710337	20	7085										
DIO1	1733	broad.mit.edu	37	chr1	54360027	54360027	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctggccatgggcgagaagacGggtatgaccaggaaccccca	14	12	0	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.chr1:54360027G>T	ENST00000525202.1	+	1	144	c.144G>T	c.(142-144)acG>acT	p.T48T	DIO1_ENST00000524406.1_Intron|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T|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.(142-144)acG>acT		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>T		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>T	1.37:g.54360027G>T			Somatic				DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T	p.T48T			WXS	Illumina GAIIx	Phase_I	P49895	IOD1_HUMAN			1	144	+			48					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Splice_Site	SNP	ENST00000525202.1	37	c.144G>T	CCDS53320.1																																																																																				0.527	DIO1-013	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000388176.1		Silent	5	150	5	150	---	---	---	---	T	54360027	G	T	54360027	5	4	158	1	0	0	0	0	0	0	1	0	4524	1130	39	1	146	1	DIO1	1	54360027	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08	819743	54360027	194890594	21	7086										
ABCA4	24	broad.mit.edu	37	chr1	94502297	94502297	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actggctccagcaccataccCgcaaacagaggtcctgaatc	8	15	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.chr1:94502297C>A	ENST00000370225.3	-	26	3947	c.3861G>T	c.(3859-3861)gcG>gcT	p.A1287A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1287					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.A1287A(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)		GCACCATACCCGCAAACAGAG	0.468																																						ENST00000370225.3																			1	Substitution - coding silent(1)	p.A1287A(1)	lung(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.(3859-3861)gcG>gcT		ATP-binding cassette, sub-family A (ABC1), member 4							125	138	134					1																	94502297		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502297C>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.3862+1G>T	1.37:g.94502297C>A			Somatic					p.A1287A	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	26	3947	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1287					O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37	c.3861G>T	CCDS747.1																																																																																				0.468	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Silent	5	185	5	185	---	---	---	---	A	94502297	C	A	94502297	5	1	158	1	0	0	0	0	0	0	1	0	34	666	23	1	3060	1	ABCA4	1	94502297	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	40142270	94502297	154748324	22	7087										
SLC16A4	9122	broad.mit.edu	37	chr1	110931935	110931935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaggttggaccttcccctccCtcttcagcatgatgcctctt	7	15	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.chr1:110931935C>A	ENST00000369779.4	-	2	260	c.11G>T	c.(10-12)aGg>aTg	p.R4M	SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	4					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)	CTTCCCCTCCCTCTTCAGCAT	0.403																																						ENST00000541986.1																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16								solute carrier family 16, member 4	Pyruvic acid(DB00119)						167	159	162					1																	110931935		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110931935C>A	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.11G>T	1.37:g.110931935C>A	ENSP00000358794:p.Arg4Met		Somatic				SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M|SLC16A4_ENST00000369779.4_Missense_Mutation_p.R4M				WXS	Illumina GAIIx	Phase_I	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)	0	226	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)						A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Translation_Start_Site	SNP	ENST00000369779.4	37		CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711683	0.30322	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.18174	2.39;2.23;2.65	4.86	-2.04	0.07343	.	0.755486	0.12942	N	0.426486	T	0.04679	0.0127	L	0.51422	1.61	0.36947	D	0.892661	B;B;B	0.28082	0.2;0.05;0.126	B;B;B	0.26770	0.073;0.013;0.033	T	0.31833	-0.9929	10	0.59425	D	0.04	.	1.3081	0.02092	0.1437:0.3298:0.1417:0.3848	.	4;4;4	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	M	4	ENSP00000358794:R4M;ENSP00000432495:R4M;ENSP00000358796:R4M	ENSP00000358794:R4M	R	-	2	0	SLC16A4	110733458	0.001000	0.12720	0.042000	0.18584	0.120000	0.20174	0.154000	0.16343	-0.163000	0.10946	-0.521000	0.04368	AGG		0.403	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		6	104	6	104	---	---	---	---	A	110931935	C	A	110931935	3	1	158	1	0	0	0	0	1	0	0	0	14410	681	24	1	1484	1	SLC16A4	1	110931935	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	16429638	110931935	138318686	23	7088										
KCNA3	3738	broad.mit.edu	37	chr1	111217125	111217125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gttgatgaccacgcgctcccCgcagcagtcctgctcgcccg	11	18	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.chr1:111217125C>A	ENST00000369769.2	-	1	530	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	103					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)	ACGCGCTCCCCGCAGCAGTCC	0.731																																						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.(307-309)Ggg>Tgg		potassium voltage-gated channel, shaker-related subfamily, member 3							18	22	21					1																	111217125		2194	4294	6488	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217125C>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.307G>T	1.37:g.111217125C>A	ENSP00000358784:p.Gly103Trp		Somatic					p.G103W	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	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	530	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	103					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.307G>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672899	0.29693	.	.	ENSG00000177272	ENST00000369769	D	0.96940	-4.18	4.22	3.3	0.37823	.	0.000000	0.37623	U	0.002015	D	0.88731	0.6516	N	0.08118	0	0.37402	D	0.912877	P	0.50369	0.934	P	0.52881	0.712	D	0.88407	0.3019	10	0.48119	T	0.1	.	6.2984	0.21099	0.1815:0.7193:0.0:0.0992	.	103	P22001	KCNA3_HUMAN	W	103	ENSP00000358784:G103W	ENSP00000358784:G103W	G	-	1	0	KCNA3	111018648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.386000	0.66238	0.754000	0.32968	0.462000	0.41574	GGG		0.731	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		4	46	4	46	---	---	---	---	A	111217125	C	A	111217125	3	1	158	1	0	0	0	0	1	0	0	0	8004	652	23	1	1424	1	KCNA3	1	111217125	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	285190	111217125	138033496	24	7089										
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacggccgtctggatctcgcGggatgtgatggtggagcgct	17	10	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.chr1:149783602G>T	ENST00000369167.1	-	1	312	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(277-279)Cgc>Agc		histone cluster 2, H2bf							27	26	26					1																	149783602		2203	4277	6480	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783602G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.277C>A	1.37:g.149783602G>T	ENSP00000358164:p.Arg93Ser		Somatic				HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR	p.R93S			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	323	-	Breast(34;0.0124)|all_hematologic(923;0.127)		93					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.277C>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927385	0.52759	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.52057	0.68;0.68;0.68	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.56097	D	0.000040	T	0.76877	0.4049	H	0.98629	4.285	0.39265	D	0.964282	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.995;0.988;0.946	D	0.86259	0.1654	10	0.87932	D	0	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	93;93;93	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	S	93	ENSP00000445831:R93S;ENSP00000407461:R93S;ENSP00000358164:R93S	ENSP00000358164:R93S	R	-	1	0	HIST2H2BF	148050226	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	3.331000	0.52075	2.287000	0.76781	0.195000	0.17529	CGC		0.647	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		4	74	4	74	---	---	---	---	T	149783602	G	T	149783602	3	4	158	1	0	0	0	0	1	0	0	0	7180	1116	39	1	524	1	HIST2H2BF	1	149783602	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	38566477	149783602	99467019	25	7090										
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783762	149783762	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agcaccttgtacacgtaaacGgagtagctctccttgcggct	10	12	1	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.chr1:149783762G>T	ENST00000369167.1	-	1	152	c.117C>A	c.(115-117)tcC>tcA	p.S39S	HIST2H2BF_ENST00000427880.2_Silent_p.S39S|HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	39					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					ACACGTAAACGGAGTAGCTCT	0.562																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(115-117)tcC>tcA		histone cluster 2, H2bf							210	189	196					1																	149783762		2203	4297	6500	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783762G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.117C>A	1.37:g.149783762G>T			Somatic				HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000369167.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR	p.S39S			WXS	Illumina GAIIx	Phase_I	Q5QNW6	H2B2F_HUMAN			1	163	-	Breast(34;0.0124)|all_hematologic(923;0.127)		39					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.117C>A	CCDS30846.1																																																																																				0.562	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		7	303	7	303	---	---	---	---	T	149783762	G	T	149783762	2	4	158	1	0	0	0	0	0	0	0	1	7180	1103	39	1		1	HIST2H2BF	1	149783762	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	160	149783762	99466859	26	7091										
C1orf56	54964	broad.mit.edu	37	chr1	151020889	151020889	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gagccggtggccgtcaccctCacccacagccatgccatctc	9	19	3	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.chr1:151020889C>A	ENST00000368926.5	+	1	674	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	189						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	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)			CCGTCACCCTCACCCACAGCC	0.697											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(565-567)tCa>tAa		chromosome 1 open reading frame 56							30	33	32					1																	151020889		2195	4293	6488	SO:0001587	stop_gained	54964					extracellular region		g.chr1:151020889C>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.566C>A	1.37:g.151020889C>A	ENSP00000357922:p.Ser189*		Somatic	OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.S189*	NM_017860.3	NP_060330.2	WXS	Illumina GAIIx	Phase_I	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	674	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		189					B2RDU8|Q9NWZ4	Nonsense_Mutation	SNP	ENST00000368926.5	37	c.566C>A	CCDS980.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928708	0.73327	.	.	ENSG00000143443	ENST00000368926	.	.	.	4.43	4.43	0.53597	.	0.531775	0.15944	N	0.237047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9488	12.8604	0.57910	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000357922:S189X	S	+	2	0	C1orf56	149287513	0.753000	0.28349	0.077000	0.20336	0.003000	0.03518	3.278000	0.51662	2.736000	0.93811	0.650000	0.86243	TCA		0.697	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		5	85	5	85	---	---	---	---	A	151020889	C	A	151020889	4	1	158	1	0	0	0	0	0	1	0	0	2048	838	29	3	568	3	C1orf56	1	151020889	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1237127	151020889	98229732	27	7092										
TDRKH	11022	broad.mit.edu	37	chr1	151752577	151752577	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcgctcatcgcctacatcctCtgtgtccacatcaatccgag	6	16	3	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.chr1:151752577C>A	ENST00000368822.1	-	4	904	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	91	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)			CCTACATCCTCTGTGTCCACA	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.(271-273)Gag>Tag		tudor and KH domain containing							167	167	167					1																	151752577		2078	4233	6311	SO:0001587	stop_gained	11022						RNA binding	g.chr1:151752577C>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.271G>T	1.37:g.151752577C>A	ENSP00000357812:p.Glu91*		Somatic				TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*	p.E91*			WXS	Illumina GAIIx	Phase_I	Q9Y2W6	TDRKH_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	904	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		91			KH 1.		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Nonsense_Mutation	SNP	ENST00000368822.1	37	c.271G>T	CCDS41394.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792734	0.90453	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	.	.	.	5.08	5.08	0.68730	.	0.219820	0.39407	N	0.001365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-17.8573	16.3581	0.83244	0.0:1.0:0.0:0.0	.	.	.	.	X	91;91;91;87;91;91;91	.	ENSP00000357812:E91X	E	-	1	0	TDRKH	150019201	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.705000	0.54823	2.813000	0.96785	0.655000	0.94253	GAG		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	130	7	130	---	---	---	---	A	151752577	C	A	151752577	4	1	158	1	0	0	0	0	0	1	0	0	15734	922	32	3	1454	3	TDRKH	1	151752577	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	731688	151752577	97498044	28	7093										
FLG	2312	broad.mit.edu	37	chr1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttcaggatttgccgaaattcCttttccagaagttccttcag	7	10	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.chr1:152287816C>A	ENST00000368799.1	-	2	152	c.117G>T	c.(115-117)aaG>aaT	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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.K39N(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)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.K39N(1)	ovary(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.(115-117)aaG>aaT		filaggrin							174	178	177					1																	152287816		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.chr1:152287816C>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.117G>T	1.37:g.152287816C>A	ENSP00000357789:p.Lys39Asn		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.K39N	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	152	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		39			EF-hand 1.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.117G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810512	0.32053	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.2	-10.4	0.00318	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.03095	0.0091	L	0.27053	0.805	0.09310	N	1	P	0.47191	0.891	P	0.48677	0.586	T	0.10636	-1.0621	9	0.31617	T	0.26	0.2843	5.8155	0.18490	0.0953:0.1969:0.0949:0.6129	.	39	P20930	FILA_HUMAN	N	39	ENSP00000357789:K39N	ENSP00000357789:K39N	K	-	3	2	FLG	150554440	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.545000	0.00933	-1.947000	0.01034	-1.120000	0.02017	AAG		0.328	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	184	7	184	---	---	---	---	A	152287816	C	A	152287816	3	1	158	1	0	0	0	0	1	0	0	0	5922	680	24	1	12076	1	FLG	1	152287816	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	535239	152287816	96962805	29	7094										
SLC27A3	11000	broad.mit.edu	37	chr1	153748239	153748239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctttctcattcacggctcgcGgcgctttagctactcagagg	10	13	3	1	rs200975179		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.chr1:153748239G>T	ENST00000368661.3	+	1	472	c.407G>T	c.(406-408)cGg>cTg	p.R136L	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000271857.2_Missense_Mutation_p.R217L	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	136					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)			CACGGCTCGCGGCGCTTTAGC	0.711																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(649-651)cGg>cTg		solute carrier family 27 (fatty acid transporter), member 3							10	13	12					1																	153748239		1779	3627	5406	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748239G>T	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.407G>T	1.37:g.153748239G>T	ENSP00000357650:p.Arg136Leu		Somatic				SLC27A3_ENST00000368661.3_Missense_Mutation_p.R136L|SLC27A3_ENST00000484014.1_Intron	p.R217L			WXS	Illumina GAIIx	Phase_I	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1410	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		136					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.650G>T	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409140	0.62399	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.11604	2.76;2.76	3.57	0.524	0.17066	.	0.547217	0.18112	N	0.151329	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	0.999998	B	0.32160	0.358	B	0.23852	0.049	T	0.43458	-0.9390	10	0.52906	T	0.07	-8.6044	5.9351	0.19161	0.3627:0.0:0.6373:0.0	.	136	Q5K4L6	S27A3_HUMAN	L	217;136	ENSP00000271857:R217L;ENSP00000357650:R136L	ENSP00000271857:R217L	R	+	2	0	SLC27A3	152014863	0.031000	0.19500	0.967000	0.41034	0.442000	0.32017	0.512000	0.22755	-0.074000	0.12820	0.462000	0.41574	CGG		0.711	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		3	10	3	10	---	---	---	---	T	153748239	G	T	153748239	3	4	158	1	0	0	0	0	1	0	0	0	14527	1116	39	1	409	1	SLC27A3	1	153748239	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1460423	153748239	95502382	30	7095										
SH2D2A	9047	broad.mit.edu	37	chr1	156779038	156779038	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	accagctcttccgtaggacaGggtgcccaagggtggcgggt	16	11	1	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.chr1:156779038G>T	ENST00000368199.3	-	7	1112	c.959C>A	c.(958-960)cCt>cAt	p.P320H	SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000392306.2_Missense_Mutation_p.P330H	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	320	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)	p.P320H(1)|p.P330H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTAGGACAGGGTGCCCAAG	0.602																																						ENST00000392306.2																			2	Substitution - Missense(2)	p.P320H(1)|p.P330H(1)	lung(2)	endometrium(1)|large_intestine(2)|lung(15)	18						c.(988-990)cCt>cAt		SH2 domain containing 2A							143	141	142					1																	156779038		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779038G>T	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.959C>A	1.37:g.156779038G>T	ENSP00000357182:p.Pro320His		Somatic				SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.P320H	p.P330H	NM_001161441.1	NP_001154913.1	WXS	Illumina GAIIx	Phase_I	Q9NP31	SH22A_HUMAN			7	1128	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		320			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.989C>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	G	5.274	0.235895	0.10023	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.54866	0.56;0.55;0.98	3.18	-3.11	0.05299	.	3.077030	0.01473	N	0.016342	T	0.12646	0.0307	N	0.17082	0.46	0.09310	N	1	B;B;B	0.20052	0.041;0.006;0.003	B;B;B	0.12156	0.007;0.003;0.003	T	0.08617	-1.0713	10	0.41790	T	0.15	-0.3668	1.8161	0.03101	0.109:0.2635:0.207:0.4205	.	330;302;320	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	H	320;302;330	ENSP00000357182:P320H;ENSP00000357181:P302H;ENSP00000376123:P330H	ENSP00000357181:P302H	P	-	2	0	SH2D2A	155045662	0.000000	0.05858	0.004000	0.12327	0.238000	0.25445	-1.495000	0.02294	-0.463000	0.06973	0.462000	0.41574	CCT		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		9	260	9	260	---	---	---	---	T	156779038	G	T	156779038	3	4	158	1	0	0	0	0	1	0	0	0	14232	1000	35	1	218	1	SH2D2A	1	156779038	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	3030799	156779038	92471583	31	7096										
ARHGEF11	9826	broad.mit.edu	37	chr1	156916777	156916777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgatgatggggccttcctccCggagcttcttcatggcttca	11	12	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.chr1:156916777C>A	ENST00000361409.2	-	26	3141	c.2399G>T	c.(2398-2400)cGg>cTg	p.R800L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R840L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	800	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.R840L(1)		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)					GCCTTCCTCCCGGAGCTTCTT	0.542																																						ENST00000368194.3																			1	Substitution - Missense(1)	p.R840L(1)	lung(1)	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.(2518-2520)cGg>cTg		Rho guanine nucleotide exchange factor (GEF) 11							118	121	120					1																	156916777		2203	4300	6503	SO:0001583	missense	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.chr1:156916777C>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.2399G>T	1.37:g.156916777C>A	ENSP00000354644:p.Arg800Leu		Somatic				ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R800L	p.R840L	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	O15085	ARHGB_HUMAN			27	3558	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		800			DH.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2519G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363708	0.95877	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65732	-0.17;-0.17;-0.17	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000065	T	0.75693	0.3884	M	0.70108	2.13	0.58432	D	0.999999	D;D;D	0.71674	0.964;0.998;0.997	P;D;D	0.74674	0.727;0.975;0.984	T	0.77112	-0.2708	10	0.87932	D	0	-23.5004	19.0202	0.92910	0.0:1.0:0.0:0.0	.	216;800;840	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	L	840;800;216	ENSP00000357177:R840L;ENSP00000354644:R800L;ENSP00000313470:R216L	ENSP00000313470:R216L	R	-	2	0	ARHGEF11	155183401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.986000	0.76200	2.819000	0.97034	0.650000	0.86243	CGG		0.542	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		5	177	5	177	---	---	---	---	A	156916777	C	A	156916777	3	1	158	1	0	0	0	0	1	0	0	0	896	652	23	1	2229	1	ARHGEF11	1	156916777	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	137739	156916777	92333844	32	7097										
SPTA1	6708	broad.mit.edu	37	chr1	158648265	158648265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccaaaccacgaaggcgctcCcaggcagcattcacctcatt	8	16	2	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.chr1:158648265C>A	ENST00000368147.4	-	6	918	c.738G>T	c.(736-738)tgG>tgT	p.W246C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	246					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)					GAAGGCGCTCCCAGGCAGCAT	0.453																																						ENST00000368147.4																			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.(736-738)tgG>tgT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							90	85	87					1																	158648265		1874	4108	5982	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.chr1:158648265C>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.738G>T	1.37:g.158648265C>A	ENSP00000357129:p.Trp246Cys		Somatic					p.W246C	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			6	918	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.738G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724054	0.68959	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	4.66	4.66	0.58398	.	0.000000	0.30410	N	0.009696	D	0.84469	0.5479	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88332	0.2969	10	0.87932	D	0	.	16.6455	0.85176	0.0:1.0:0.0:0.0	.	246	P02549	SPTA1_HUMAN	C	246	ENSP00000357130:W246C;ENSP00000357129:W246C	ENSP00000357129:W246C	W	-	3	0	SPTA1	156914889	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.719000	0.74718	2.572000	0.86782	0.650000	0.86243	TGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		5	83	5	83	---	---	---	---	A	158648265	C	A	158648265	3	1	158	1	0	0	0	0	1	0	0	0	15115	624	22	1	6709	1	SPTA1	1	158648265	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1731488	158648265	90602356	33	7098										
C1orf125	126859	broad.mit.edu	37	chr1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aattcttccaagtttgattaGttctcttgacttctgttctt	5	8	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.chr1:179437608G>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		Somatic				AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	p.S610N	NM_144696.4	NP_653297.3	WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	A	179437608	G	A	179437608	3	1	158	1	0	0	0	0	1	0	0	0	1993	1029	36	2	1891	2	C1orf125	1	179437608	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	20789343	179437608	69813013	34	7099										
XPR1	9213	broad.mit.edu	37	chr1	180772720	180772720	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccttcagtgagttctacctCagtctaatcctgctgcagaa	8	12	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.chr1:180772720C>A	ENST00000367590.4	+	4	618	c.420C>A	c.(418-420)ctC>ctA	p.L140L	XPR1_ENST00000367589.3_Silent_p.L140L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	140	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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						AGTTCTACCTCAGTCTAATCC	0.403																																						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.(418-420)ctC>ctA		xenotropic and polytropic retrovirus receptor 1							108	113	111					1																	180772720		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180772720C>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.420C>A	1.37:g.180772720C>A			Somatic				XPR1_ENST00000367589.3_Silent_p.L140L	p.L140L	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			4	618	+			140			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.420C>A	CCDS1340.1																																																																																				0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	122	5	122	---	---	---	---	A	180772720	C	A	180772720	2	1	158	1	0	0	0	0	0	0	0	1	17448	813	29	3		3	XPR1	1	180772720	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1335112	180772720	68477901	35	7100										
NCF2	4688	broad.mit.edu	37	chr1	183536470	183536470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tagcacacggtgagcctcccCttccagagccctgcagagga	11	15	0	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.chr1:183536470C>A	ENST00000367535.3	-	8	975	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000413720.1_Missense_Mutation_p.G197W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	242	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	TGAGCCTCCCCTTCCAGAGCC	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.(589-591)Ggg>Tgg		neutrophil cytosolic factor 2							234	222	226					1																	183536470		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.chr1:183536470C>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.724G>T	1.37:g.183536470C>A	ENSP00000356505:p.Gly242Trp		Somatic				NCF2_ENST00000367535.3_Missense_Mutation_p.G242W|NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	p.G197W	NM_001190794.1	NP_001177723.1	WXS	Illumina GAIIx	Phase_I	P19878	NCF2_HUMAN			7	863	-			242					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.589G>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769987	0.90020	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.37	5.37	0.77165	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	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	0.71813	-0.4479	10	0.87932	D	0	-26.8557	19.116	0.93340	0.0:1.0:0.0:0.0	.	161;197;242	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	242;314;197;161;242	ENSP00000356506:G242W;ENSP00000399294:G197W;ENSP00000407217:G161W;ENSP00000356505:G242W	ENSP00000356505:G242W	G	-	1	0	NCF2	181803093	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.064000	0.76721	2.535000	0.85469	0.561000	0.74099	GGG		0.532	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		7	262	7	262	---	---	---	---	A	183536470	C	A	183536470	3	1	158	1	0	0	0	0	1	0	0	0	10217	681	24	1	888	1	NCF2	1	183536470	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2763750	183536470	65714151	36	7101										
SHISA4	149345	broad.mit.edu	37	chr1	201860964	201860964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccaccacagccctcttaccCgggagcctgaggaaccagcc	10	18	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.chr1:201860964C>A	ENST00000362011.6	+	5	871	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	195	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CCCTCTTACCCGGGAGCCTGA	0.577																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(583-585)cCg>cAg		shisa family member 4							174	148	157					1																	201860964		2203	4300	6503	SO:0001583	missense	149345					integral to membrane		g.chr1:201860964C>A	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"Shisa homologs"	27139	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 40", "transmembrane protein 58", "shisa homolog 4 (Xenopus laevis)"	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.584C>A	1.37:g.201860964C>A	ENSP00000355064:p.Pro195Gln		Somatic				SHISA4_ENST00000464117.1_3'UTR	p.P195Q	NM_198149.2	NP_937792.2	WXS	Illumina GAIIx	Phase_I	Q96DD7	SHSA4_HUMAN			5	871	+			195			Pro-rich.		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	ENST00000362011.6	37	c.584C>A	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436974	0.62955	.	.	ENSG00000198892	ENST00000362011	T	0.66995	-0.24	5.84	5.84	0.93424	.	0.287959	0.39985	N	0.001207	T	0.72211	0.3432	N	0.24115	0.695	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.75199	-0.3402	10	0.87932	D	0	.	15.6279	0.76878	0.0:1.0:0.0:0.0	.	195	Q96DD7	SHSA4_HUMAN	Q	195	ENSP00000355064:P195Q	ENSP00000355064:P195Q	P	+	2	0	SHISA4	200127587	0.387000	0.25188	0.956000	0.39512	0.884000	0.51177	1.097000	0.30988	2.768000	0.95171	0.561000	0.74099	CCG		0.577	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		5	158	5	158	---	---	---	---	A	201860964	C	A	201860964	3	1	158	1	0	0	0	0	1	0	0	0	14282	652	23	1	602	1	SHISA4	1	201860964	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	18324494	201860964	47389657	37	7102										
PIK3C2B	5287	broad.mit.edu	37	chr1	204433187	204433187	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggctttagcacaaagtcaccCacgtccacattcctcaggtc	7	15	2	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.chr1:204433187C>A	ENST00000367187.3	-	6	1819	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	PIK3C2B_ENST00000424712.2_Silent_p.V421V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	421	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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)			CAAAGTCACCCACGTCCACAT	0.542																																						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.(1261-1263)gtG>gtT		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							165	160	161					1																	204433187		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.chr1:204433187C>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.1263G>T	1.37:g.204433187C>A			Somatic				PIK3C2B_ENST00000424712.2_Silent_p.V421V	p.V421V	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	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)		6	1819	-	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)		421					O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.1263G>T	CCDS1446.1																																																																																				0.542	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		6	149	6	149	---	---	---	---	A	204433187	C	A	204433187	2	1	158	1	0	0	0	0	0	0	0	1	11910	581	21	1		1	PIK3C2B	1	204433187	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2572223	204433187	44817434	38	7103										
CR1	1378	broad.mit.edu	37	chr1	207741321	207741321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcattggagagagcaccatcCgctgcacaagtgaccctcaa	9	13	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.chr1:207741321C>A	ENST00000367049.4	+	25	4105	c.4105C>A	c.(4105-4107)Cgc>Agc	p.R1369S	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367051.1_Missense_Mutation_p.R919S|CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21. {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						GAGCACCATCCGCTGCACAAG	0.542																																						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.(4105-4107)Cgc>Agc		complement component (3b/4b) receptor 1 (Knops blood group)							88	106	101					1																	207741321		1810	4082	5892	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741321C>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.4105C>A	1.37:g.207741321C>A	ENSP00000356016:p.Arg1369Ser		Somatic				CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R919S	p.R1369S	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			25	4105	+			919			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4105C>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	c	17.52	3.409105	0.62399	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	2.73	-0.354	0.12591	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63438	0.2511	L	0.46819	1.47	0.19300	N	0.999972	P;D;P;D	0.69078	0.937;0.995;0.896;0.997	P;D;P;D	0.80764	0.862;0.987;0.641;0.994	T	0.52873	-0.8517	9	0.18276	T	0.48	.	2.6371	0.04961	0.225:0.5036:0.0:0.2714	.	919;469;919;1369	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	S	919;919;919;1369	ENSP00000356018:R919S;ENSP00000356020:R919S;ENSP00000383744:R919S;ENSP00000356016:R1369S	ENSP00000356016:R1369S	R	+	1	0	CR1	205807944	0.139000	0.22563	0.187000	0.23214	0.906000	0.53458	0.169000	0.16641	-0.053000	0.13289	0.491000	0.48974	CGC		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	200	6	200	---	---	---	---	A	207741321	C	A	207741321	3	1	158	1	0	0	0	0	1	0	0	0	3840	652	23	1	4203	1	CR1	1	207741321	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3308134	207741321	41509300	39	7104										
NID1	4811	broad.mit.edu	37	chr1	236180449	236180449	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agttacctggagaacttaccCacacacgttccctcatctga	6	14	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.chr1:236180449C>A	ENST00000264187.6	-	10	2335	c.2253G>T	c.(2251-2253)gtG>gtT	p.V751V	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	751	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	AGAACTTACCCACACACGTTC	0.478																																						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.(2251-2253)gtG>gtT		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						188	179	182					1																	236180449		2203	4300	6503	SO:0001630	splice_region_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180449C>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.2254+1G>T	1.37:g.236180449C>A			Somatic				NID1_ENST00000366595.3_Intron	p.V751V	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2335	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	751			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Splice_Site	SNP	ENST00000264187.6	37	c.2253G>T	CCDS1608.1																																																																																				0.478	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	Silent	7	179	7	179	---	---	---	---	A	236180449	C	A	236180449	5	1	158	1	0	0	0	0	0	0	1	0	10414	608	21	1	1534	1	NID1	1	236180449	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	28439128	236180449	13070172	40	7105										
RYR2	6262	broad.mit.edu	37	chr1	237806690	237806690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttttgagatccctcattcccCtgggagatttggtgggcgtt	12	9	1	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.chr1:237806690C>A	ENST00000366574.2	+	48	7602	c.7285C>A	c.(7285-7287)Ctg>Atg	p.L2429M	RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2429	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)			CCTCATTCCCCTGGGAGATTT	0.428																																						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.(7285-7287)Ctg>Atg		ryanodine receptor 2 (cardiac)							192	182	185					1																	237806690		1882	4108	5990	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.chr1:237806690C>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.7285C>A	1.37:g.237806690C>A	ENSP00000355533:p.Leu2429Met		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	p.L2429M	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7602	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2429			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7285C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.023	0.759998	0.15846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.21;-4.21	5.4	-5.05	0.02955	.	0.295501	0.23162	N	0.051224	D	0.94149	0.8123	L	0.43757	1.38	0.35059	D	0.761416	P	0.48503	0.911	P	0.53861	0.736	D	0.91731	0.5396	10	0.45353	T	0.12	.	9.2442	0.37515	0.0941:0.3672:0.0:0.5387	.	2429	Q92736	RYR2_HUMAN	M	2429;2427;2413	ENSP00000355533:L2429M;ENSP00000353174:L2427M;ENSP00000443798:L2413M	ENSP00000353174:L2427M	L	+	1	2	RYR2	235873313	0.000000	0.05858	0.697000	0.30258	0.421000	0.31385	-0.617000	0.05584	-0.898000	0.03906	-1.021000	0.02439	CTG		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	138	6	138	---	---	---	---	A	237806690	C	A	237806690	3	1	158	1	0	0	0	0	1	0	0	0	13769	680	24	1	7475	1	RYR2	1	237806690	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1626241	237806690	11443931	41	7106										
CHRM3	1131	broad.mit.edu	37	chr1	240072328	240072328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgcatacccaaaaccttttGgaatctgggctactggctgt	9	11	1	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.chr1:240072328G>T	ENST00000255380.4	+	5	2356	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	526	Agonist binding. {ECO:0000250}.				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)	AAAACCTTTTGGAATCTGGGC	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.(1576-1578)tGg>tTg		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)						127	107	114					1																	240072328		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.chr1:240072328G>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.1577G>T	1.37:g.240072328G>T	ENSP00000255380:p.Trp526Leu		Somatic					p.W526L	NM_000740.2	NP_000731.1	WXS	Illumina GAIIx	Phase_I	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2356	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	526					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1577G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252329	0.80135	.	.	ENSG00000133019	ENST00000255380	T	0.70164	-0.46	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86351	0.1711	10	0.87932	D	0	-8.1526	19.8984	0.96975	0.0:0.0:1.0:0.0	.	526	P20309	ACM3_HUMAN	L	526	ENSP00000255380:W526L	ENSP00000255380:W526L	W	+	2	0	CHRM3	238138951	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.713000	0.92767	0.655000	0.94253	TGG		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		5	83	5	83	---	---	---	---	T	240072328	G	T	240072328	3	4	158	1	0	0	0	0	1	0	0	0	3378	1357	47	1	1579	1	CHRM3	1	240072328	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2265638	240072328	9178293	42	7107										
AHCTF1	25909	broad.mit.edu	37	chr1	247013490	247013490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgatggactaacttctctccCtctgacccttctaacatgtt	5	13	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.chr1:247013490C>A	ENST00000391829.2	-	33	5941	c.5818G>T	c.(5818-5820)Ggg>Tgg	p.G1940W	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G1975W|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1940	Disordered. {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)			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)			ACTTCTCTCCCTCTGACCCTT	0.393																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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.(5923-5925)Ggg>Tgg		AT hook containing transcription factor 1							175	171	173					1																	247013490		2203	4300	6503	SO:0001583	missense	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.chr1:247013490C>A		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.5818G>T	1.37:g.247013490C>A	ENSP00000375705:p.Gly1940Trp		Somatic				AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1940W	p.G1975W			WXS	Illumina GAIIx	Phase_I	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	6059	-	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)	1940			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5923G>T		.	.	.	.	.	.	.	.	.	.	C	13.69	2.311674	0.40895	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31510	1.49;1.49;1.49	5.37	1.44	0.22558	.	0.760740	0.12294	N	0.481755	T	0.32194	0.0821	L	0.29908	0.895	0.09310	N	1	D;D;D	0.59767	0.986;0.984;0.973	P;P;P	0.55455	0.776;0.702;0.506	T	0.11690	-1.0577	10	0.66056	D	0.02	-1.3704	7.3273	0.26563	0.0:0.4751:0.0:0.5249	.	801;1975;1940	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	W	1975;1949;1940	ENSP00000355464:G1975W;ENSP00000355465:G1949W;ENSP00000375705:G1940W	ENSP00000355465:G1949W	G	-	1	0	AHCTF1	245080113	0.063000	0.20901	0.016000	0.15963	0.001000	0.01503	0.961000	0.29267	0.521000	0.28445	-0.345000	0.07892	GGG		0.393	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		6	174	6	174	---	---	---	---	A	247013490	C	A	247013490	3	1	158	1	0	0	0	0	1	0	0	0	408	681	24	1	998	1	AHCTF1	1	247013490	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6941162	247013490	2237131	43	7108										
OR2M5	127059	broad.mit.edu	37	chr1	248308458	248308458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aacatattcatcatggcatgGgagaatcagaccttcaactc	7	10	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.chr1:248308458G>T	ENST00000366476.1	+	1	9	c.9G>T	c.(7-9)tgG>tgT	p.W3C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	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)|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)			TCATGGCATGGGAGAATCAGA	0.413																																						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.(7-9)tgG>tgT		olfactory receptor, family 2, subfamily M, member 5							190	188	189					1																	248308458		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308458G>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.9G>T	1.37:g.248308458G>T	ENSP00000355432:p.Trp3Cys		Somatic					p.W3C	NM_001004690.1	NP_001004690.1	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	9	+	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)		3						Missense_Mutation	SNP	ENST00000366476.1	37	c.9G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.765854	0.31228	.	.	ENSG00000162727	ENST00000366476	T	0.00575	6.46	2.86	0.873	0.19118	.	0.656368	0.11748	U	0.533334	T	0.01156	0.0038	L	0.53249	1.67	0.09310	N	0.999999	P	0.51449	0.945	P	0.54629	0.757	T	0.53556	-0.8422	10	0.36615	T	0.2	.	7.4878	0.27443	0.2491:0.0:0.7509:0.0	.	3	A3KFT3	OR2M5_HUMAN	C	3	ENSP00000355432:W3C	ENSP00000355432:W3C	W	+	3	0	OR2M5	246375081	0.000000	0.05858	0.037000	0.18230	0.174000	0.22865	-0.675000	0.05227	0.475000	0.27415	0.492000	0.49549	TGG		0.413	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		8	283	8	283	---	---	---	---	T	248308458	G	T	248308458	3	4	158	1	0	0	0	0	1	0	0	0	11013	1241	43	1	11	1	OR2M5	1	248308458	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1294968	248308458	942163	44	7109										
OR2M3	127062	broad.mit.edu	37	chr1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tatagtaatgattgttttccCtgttgcaatcatcattgctt	6	7	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.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		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>cAt		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>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.629C>A	1.37:g.248366998C>A	ENSP00000389625:p.Pro210His		Somatic					p.P210H	NM_001004689.1	NP_001004689.1	WXS	Illumina GAIIx	Phase_I	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>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004110	0.35320	.	.	ENSG00000228198	ENST00000456743	T	0.57273	0.41	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.75693	0.3884	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65195	-0.6227	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	H	210	ENSP00000389625:P210H	ENSP00000389625:P210H	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		9	336	9	336	---	---	---	---	A	248366998	C	A	248366998	3	1	158	1	0	0	0	0	1	0	0	0	11011	681	24	1	631	1	OR2M3	1	248366998	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	58540	248366998	883623	45	7110										
NCOA1	8648	broad.mit.edu	37	chr2	24933958	24933958	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcacttcagtccgccactgcCagacccacttccaggctaaa	6	17	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.chr2:24933958C>A	ENST00000406961.1	+	14	3229	c.2577C>A	c.(2575-2577)gcC>gcA	p.A859A	NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000405141.1_Silent_p.A859A|NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	859	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCACTGCCAGACCCACTT	0.468			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2575-2577)gcC>gcA		nuclear receptor coactivator 1							75	71	72					2																	24933958		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24933958C>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2577C>A	2.37:g.24933958C>A			Somatic				NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A|NCOA1_ENST00000406961.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A	p.A859A			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			15	3288	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		859			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.2577C>A	CCDS1712.1																																																																																				0.468	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	41	4	41	---	---	---	---	A	24933958	C	A	24933958	2	1	158	1	0	0	0	0	0	0	0	1	10228	581	21	1		1	NCOA1	2	24933958	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		24933958	218265415	46	7111										
CAD	790	broad.mit.edu	37	chr2	27446507	27446507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttctgacatcccagaaccatGggtttgctgtggagacagac	11	10	1	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.chr2:27446507G>T	ENST00000403525.1	+	7	1030	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	CAD_ENST00000264705.4_Missense_Mutation_p.G296W			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)					CCAGAACCATGGGTTTGCTGT	0.557																																						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.(886-888)Ggg>Tgg		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						217	208	211					2																	27446507		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.chr2:27446507G>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.886G>T	2.37:g.27446507G>T	ENSP00000384510:p.Gly296Trp		Somatic				CAD_ENST00000403525.1_Missense_Mutation_p.G296W	p.G296W	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			7	1048	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		296			GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.886G>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.581411	0.86748	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.91843	-2.92;-2.92	5.24	5.24	0.73138	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99916	4.945	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-12.117	16.3043	0.82842	0.0:0.0:1.0:0.0	.	296;296	F8VPD4;P27708	.;PYR1_HUMAN	W	296	ENSP00000264705:G296W;ENSP00000384510:G296W	ENSP00000264705:G296W	G	+	1	0	CAD	27300011	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.242000	0.95408	2.449000	0.82847	0.491000	0.48974	GGG		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	254	7	254	---	---	---	---	T	27446507	G	T	27446507	3	4	158	1	0	0	0	0	1	0	0	0	2565	1348	47	1	912	1	CAD	2	27446507	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2512549	27446507	215752866	47	7112										
C2orf71	388939	broad.mit.edu	37	chr2	29296096	29296096	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccactgtcctcagagcataaGgggagaccctgcaccccagg	11	15	1	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.chr2:29296096G>T	ENST00000331664.5	-	1	1031	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	344					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						CAGAGCATAAGGGGAGACCCT	0.602																																						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.(1030-1032)ccC>ccA		chromosome 2 open reading frame 71							51	56	55					2																	29296096		2186	4275	6461	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296096G>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.1032C>A	2.37:g.29296096G>T			Somatic					p.P344P	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	A6NGG8	CB071_HUMAN			1	1031	-			344						Silent	SNP	ENST00000331664.5	37	c.1032C>A	CCDS42669.1																																																																																				0.602	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		7	92	7	92	---	---	---	---	T	29296096	G	T	29296096	2	4	158	1	0	0	0	0	0	0	0	1	2191	987	35	1		1	C2orf71	2	29296096	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1849589	29296096	213903277	48	7113										
CEBPZ	10153	broad.mit.edu	37	chr2	37455747	37455747	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agatacaacatcctgaggctGgggtttcaaagaatattcat	9	7	2	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.chr2:37455747G>T	ENST00000234170.5	-	2	734	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					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)				TCCTGAGGCTGGGGTTTCAAA	0.388																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(589-591)Cag>Aag		CCAAT/enhancer binding protein (C/EBP), zeta							120	124	123					2																	37455747		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455747G>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.589C>A	2.37:g.37455747G>T	ENSP00000234170:p.Gln197Lys		Somatic					p.Q197K	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			2	734	-		all_hematologic(82;0.21)	197					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.589C>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501921	0.44455	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.02369	4.32	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	M	0.71581	2.175	0.58432	D	0.999999	D	0.65815	0.995	P	0.61477	0.889	T	0.00028	-1.2297	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	197	Q03701	CEBPZ_HUMAN	K	197	ENSP00000234170:Q197K	ENSP00000234170:Q197K	Q	-	1	0	CEBPZ	37309251	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.344000	0.79328	2.666000	0.90696	0.655000	0.94253	CAG		0.388	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		5	104	5	104	---	---	---	---	T	37455747	G	T	37455747	3	4	158	1	0	0	0	0	1	0	0	0	3204	1357	47	1	2635	1	CEBPZ	2	37455747	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	8159651	37455747	205743626	49	7114										
VRK2	7444	broad.mit.edu	37	chr2	58359012	58359012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtggttgtgtgggaaacttcCctgggaacagaacctgaagg	15	7	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.chr2:58359012C>A	ENST00000435505.2	+	12	1491	c.746C>A	c.(745-747)cCc>cAc	p.P249H	VRK2_ENST00000412104.2_Missense_Mutation_p.P249H|VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GGGAAACTTCCCTGGGAACAG	0.468																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(745-747)cCc>cAc		vaccinia related kinase 2							137	118	124					2																	58359012		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58359012C>A	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.746C>A	2.37:g.58359012C>A	ENSP00000408002:p.Pro249His		Somatic				VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000412104.2_Missense_Mutation_p.P249H	p.P249H			WXS	Illumina GAIIx	Phase_I	Q86Y07	VRK2_HUMAN			12	1491	+			249			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.746C>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910263	0.92107	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	6.07	0.98685	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	0.79661	0.4484	H	0.99565	4.63	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	0.87780	0.2611	10	0.87932	D	0	-10.6237	20.6593	0.99626	0.0:1.0:0.0:0.0	.	253;249;249;249	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	H	249;249;253;249;249;249;226	ENSP00000408002:P249H;ENSP00000402375:P249H;ENSP00000404156:P249H;ENSP00000342381:P249H;ENSP00000398323:P226H	ENSP00000342381:P249H	P	+	2	0	VRK2	58212516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCC		0.468	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		7	75	7	75	---	---	---	---	A	58359012	C	A	58359012	3	1	158	1	0	0	0	0	1	0	0	0	17217	623	22	1	776	1	VRK2	2	58359012	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	20903265	58359012	184840361	50	7115										
ARHGAP25	9938	broad.mit.edu	37	chr2	69002503	69002503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcagaggtactttgtgctgaGggcgcagcagctctactact	13	10	1	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.chr2:69002503G>T	ENST00000295381.3	+	2	631	c.212G>T	c.(211-213)aGg>aTg	p.R71M	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	71	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						TTTGTGCTGAGGGCGCAGCAG	0.592																																						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.(211-213)aGg>aTg		Rho GTPase activating protein 25							120	127	124					2																	69002503		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002503G>T	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.212G>T	2.37:g.69002503G>T	ENSP00000295381:p.Arg71Met		Somatic				ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M	p.R71M	NM_001007231.2	NP_001007232.2	WXS	Illumina GAIIx	Phase_I	P42331	RHG25_HUMAN			2	631	+			71			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.212G>T		.	.	.	.	.	.	.	.	.	.	G	18.96	3.734194	0.69189	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.58	-0.138	0.13464	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.266335	0.41712	D	0.000824	D	0.87034	0.6077	H	0.94808	3.585	0.23669	N	0.997155	D;D;D;D;D;D;D	0.65815	0.995;0.978;0.979;0.979;0.979;0.989;0.981	P;D;P;P;P;P;D	0.63488	0.853;0.911;0.767;0.845;0.845;0.843;0.915	T	0.77199	-0.2675	10	0.87932	D	0	.	4.9625	0.14074	0.4196:0.0:0.4393:0.1411	.	71;45;71;64;64;64;71	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	45;71;71;71;64;64;64;64	ENSP00000439917:R45M;ENSP00000295381:R71M;ENSP00000386911:R71M;ENSP00000420583:R71M;ENSP00000386863:R64M;ENSP00000386241:R64M;ENSP00000417139:R64M	ENSP00000295381:R71M	R	+	2	0	ARHGAP25	68856007	0.959000	0.32827	0.890000	0.34922	0.656000	0.38851	0.863000	0.27913	0.049000	0.15920	0.563000	0.77884	AGG		0.592	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		7	194	7	194	---	---	---	---	T	69002503	G	T	69002503	3	4	158	1	0	0	0	0	1	0	0	0	874	1000	35	1	258	1	ARHGAP25	2	69002503	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	10643491	69002503	174196870	51	7116										
DGUOK	1716	broad.mit.edu	37	chr2	74177856	74177856	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atctacctccaggcttctccCcaggtaacactgaacctaca	5	16	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.chr2:74177856C>A	ENST00000264093.4	+	4	673	c.588C>A	c.(586-588)ccC>ccA	p.P196P	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000356837.6_Silent_p.P174P	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	196					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)	p.P196P(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	AGGCTTCTCCCCAGGTAACAC	0.473																																						ENST00000264093.4																			1	Substitution - coding silent(1)	p.P196P(1)	lung(1)	endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(586-588)ccC>ccA		deoxyguanosine kinase							206	205	205					2																	74177856		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.chr2:74177856C>A	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.588C>A	2.37:g.74177856C>A			Somatic				DGUOK_ENST00000356837.6_Silent_p.P174P|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA	p.P196P	NM_080916.2	NP_550438.1	WXS	Illumina GAIIx	Phase_I	Q16854	DGUOK_HUMAN			4	673	+			196					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Silent	SNP	ENST00000264093.4	37	c.588C>A	CCDS1931.1																																																																																				0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			7	228	7	228	---	---	---	---	A	74177856	C	A	74177856	2	1	158	1	0	0	0	0	0	0	0	1	4475	610	22	1		1	DGUOK	2	74177856	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5175353	74177856	169021517	52	7117										
TTC31	64427	broad.mit.edu	37	chr2	74718660	74718660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctggctttgcgcaaggttgGggattggcccctcagtgccc	14	12	2	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.chr2:74718660G>T	ENST00000233623.5	+	8	744	c.737G>T	c.(736-738)gGg>gTg	p.G246V	TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Missense_Mutation_p.G246V	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	246										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CGCAAGGTTGGGGATTGGCCC	0.552																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(736-738)gGg>gTg		tetratricopeptide repeat domain 31							231	223	225					2																	74718660		1916	4124	6040	SO:0001583	missense	64427						binding	g.chr2:74718660G>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.737G>T	2.37:g.74718660G>T	ENSP00000233623:p.Gly246Val		Somatic				TTC31_ENST00000233623.5_Missense_Mutation_p.G246V|TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR	p.G246V			WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			8	746	+			246					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.737G>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652399	0.47362	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.64803	1.29;-0.12;0.05	4.31	1.28	0.21552	.	0.129297	0.33023	N	0.005377	T	0.46367	0.1389	L	0.29908	0.895	0.44175	D	0.996985	B;B;B;B	0.30709	0.18;0.113;0.113;0.291	B;B;B;B	0.33254	0.16;0.052;0.077;0.031	T	0.34304	-0.9834	10	0.66056	D	0.02	.	6.7969	0.23731	0.0:0.1744:0.4664:0.3592	.	102;216;246;175	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	V	175;246;246;102;246	ENSP00000387213:G246V;ENSP00000416823:G102V;ENSP00000233623:G246V	ENSP00000233623:G246V	G	+	2	0	TTC31	74572168	0.989000	0.36119	0.870000	0.34147	0.617000	0.37484	1.185000	0.32065	0.140000	0.18849	0.561000	0.74099	GGG		0.552	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		8	310	8	310	---	---	---	---	T	74718660	G	T	74718660	3	4	158	1	0	0	0	0	1	0	0	0	16697	1232	43	1	767	1	TTC31	2	74718660	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	540804	74718660	168480713	53	7118										
WDR33	55339	broad.mit.edu	37	chr2	128463962	128463962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccagagttcatgttactccCtctaccccagttactgccac	6	16	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.chr2:128463962C>A	ENST00000322313.4	-	22	4104	c.3946G>T	c.(3946-3948)Ggg>Tgg	p.G1316W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					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)		ATGTTACTCCCTCTACCCCAG	0.617																																						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.(3946-3948)Ggg>Tgg		WD repeat domain 33							98	107	104					2																	128463962		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128463962C>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.3946G>T	2.37:g.128463962C>A	ENSP00000325377:p.Gly1316Trp		Somatic					p.G1316W	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	22	4104	-	Colorectal(110;0.1)		1316					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3946G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633674	0.67130	.	.	ENSG00000136709	ENST00000322313	D	0.92805	-3.11	5.47	5.47	0.80525	.	0.073163	0.56097	D	0.000037	D	0.92731	0.7689	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94215	0.7462	10	0.87932	D	0	-9.3029	19.6923	0.96007	0.0:1.0:0.0:0.0	.	1316	Q9C0J8	WDR33_HUMAN	W	1316	ENSP00000325377:G1316W	ENSP00000325377:G1316W	G	-	1	0	WDR33	128180432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.699000	0.68310	2.712000	0.92718	0.650000	0.86243	GGG		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	196	7	196	---	---	---	---	A	128463962	C	A	128463962	3	1	158	1	0	0	0	0	1	0	0	0	17284	681	24	1	68	1	WDR33	2	128463962	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	53745302	128463962	114735411	54	7119										
POTEF	728378	broad.mit.edu	37	chr2	130832650	130832650	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cagcaggacggggtgctcctCgggagccacacgcagctcgt	15	14	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.chr2:130832650C>A	ENST00000409914.2	-	17	2794	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	POTEF_ENST00000357462.5_Nonsense_Mutation_p.E799*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	799	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E799K(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						GGGTGCTCCTCGGGAGCCACA	0.577																																						ENST00000357462.5																			1	Substitution - Missense(1)	p.E799K(1)	lung(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.(2395-2397)Gag>Tag		POTE ankyrin domain family, member F							94	101	99					2																	130832650		2203	4300	6503	SO:0001587	stop_gained	728378					cell cortex	ATP binding	g.chr2:130832650C>A	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.2395G>T	2.37:g.130832650C>A	ENSP00000386786:p.Glu799*		Somatic				POTEF_ENST00000409914.2_Nonsense_Mutation_p.E799*	p.E799*			WXS	Illumina GAIIx	Phase_I	A5A3E0	POTEF_HUMAN			15	2488	-			799			Actin-like.		A6NC34	Nonsense_Mutation	SNP	ENST00000409914.2	37	c.2395G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	27.3	4.821361	0.90873	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	.	.	.	X	799	.	ENSP00000350052:E799X	E	-	1	0	POTEF	130549120	1.000000	0.71417	0.167000	0.22817	0.169000	0.22640	5.244000	0.65400	0.119000	0.18210	0.121000	0.15741	GAG		0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		6	165	6	165	---	---	---	---	A	130832650	C	A	130832650	4	1	158	1	0	0	0	0	0	1	0	0	12265	893	31	3	836	3	POTEF	2	130832650	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2368688	130832650	112366723	55	7120										
MCM6	4175	broad.mit.edu	37	chr2	136626319	136626319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgatcactgtctgacagtcCaagcacagaaaagttccgct	8	12	2	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.chr2:136626319C>A	ENST00000264156.2	-	4	537	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	159					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)		TCTGACAGTCCAAGCACAGAA	0.502																																					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.(475-477)ttG>ttT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						149	139	143					2																	136626319		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.chr2:136626319C>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.477G>T	2.37:g.136626319C>A	ENSP00000264156:p.Leu159Phe		Somatic					p.L159F	NM_005915.5	NP_005906.2	WXS	Illumina GAIIx	Phase_I	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	537	-			159					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.477G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567468	0.65651	.	.	ENSG00000076003	ENST00000264156	T	0.04454	3.62	5.82	1.83	0.25207	Nucleic acid-binding, OB-fold-like (1);	0.119284	0.56097	D	0.000038	T	0.10852	0.0265	M	0.88979	2.995	0.58432	D	0.999999	P	0.41475	0.751	P	0.45474	0.482	T	0.01262	-1.1402	10	0.56958	D	0.05	-7.9031	3.1962	0.06634	0.2209:0.4403:0.2145:0.1243	.	159	Q14566	MCM6_HUMAN	F	159	ENSP00000264156:L159F	ENSP00000264156:L159F	L	-	3	2	MCM6	136342789	0.919000	0.31177	0.999000	0.59377	0.997000	0.91878	0.099000	0.15210	0.362000	0.24319	0.557000	0.71058	TTG		0.502	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		6	122	6	122	---	---	---	---	A	136626319	C	A	136626319	3	1	158	1	0	0	0	0	1	0	0	0	9391	593	21	1	2044	1	MCM6	2	136626319	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5793669	136626319	106573054	56	7121										
NEB	4703	broad.mit.edu	37	chr2	152404242	152404242	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcagtttgtggtacaattccCgatacagtctctacgttgga	9	9	2	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.chr2:152404242C>A	ENST00000172853.10	-	104	15212	c.15065G>T	c.(15064-15066)cGg>cTg	p.R5022L	NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000427231.2_Missense_Mutation_p.R6723L|NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L			P20929	NEBU_HUMAN	nebulin	5022					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)		GTACAATTCCCGATACAGTCT	0.438																																						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.(20167-20169)cGg>cTg		nebulin							121	110	114					2																	152404242		1885	4124	6009	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.chr2:152404242C>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.15065G>T	2.37:g.152404242C>A	ENSP00000172853:p.Arg5022Leu		Somatic				NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000172853.10_Missense_Mutation_p.R5022L|NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L	p.R6723L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	132	20370	-			5022					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.20168G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.325503	0.95708	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.10382	2.95;2.88;2.88;2.9;2.95	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.87578	0.998;0.891	T	0.00740	-1.1586	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	5022;1453	P20929;Q14215	NEBU_HUMAN;.	L	5022;6723;6723;1071;1453;5022	ENSP00000386259:R5022L;ENSP00000380505:R6723L;ENSP00000416578:R6723L;ENSP00000410961:R1453L;ENSP00000172853:R5022L	ENSP00000172853:R5022L	R	-	2	0	NEB	152112488	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	5.554000	0.67294	2.781000	0.95711	0.650000	0.86243	CGG		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	24	3	24	---	---	---	---	A	152404242	C	A	152404242	3	1	158	1	0	0	0	0	1	0	0	0	10302	652	23	1	5722	1	NEB	2	152404242	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	15777923	152404242	90795131	57	7122										
SLC4A10	57282	broad.mit.edu	37	chr2	162751333	162751333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcccaaaaatgttccttccCaggtatgtatatttgaagac	6	10	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.chr2:162751333C>A	ENST00000446997.1	+	11	1432	c.1339C>A	c.(1339-1341)Cag>Aag	p.Q447K	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.Q428K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					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)	TGTTCCTTCCCAGGTATGTAT	0.303																																						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.(1282-1284)Cag>Aag		solute carrier family 4, sodium bicarbonate transporter, member 10							103	96	98					2																	162751333		1804	4074	5878	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751333C>A		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.1339C>A	2.37:g.162751333C>A	ENSP00000393066:p.Gln447Lys		Somatic				SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K	p.Q428K	NM_001178016.1	NP_001171487.1	WXS	Illumina GAIIx	Phase_I	Q6U841	S4A10_HUMAN			11	1569	+			447					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1282C>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184124	0.78677	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.89904	3.07	0.80722	D	1	D;B;D;D	0.71674	0.998;0.125;0.998;0.979	D;B;D;P	0.87578	0.998;0.082;0.998;0.628	D	0.92305	0.5853	10	0.52906	T	0.07	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	428;447;417;447	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	428;417;417;416;447;447;446	ENSP00000364664:Q428K;ENSP00000395797:Q417K;ENSP00000272716:Q417K;ENSP00000393066:Q447K;ENSP00000404486:Q447K	ENSP00000272716:Q417K	Q	+	1	0	SLC4A10	162459579	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.686000	0.91538	0.655000	0.94253	CAG		0.303	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	114	5	114	---	---	---	---	A	162751333	C	A	162751333	3	1	158	1	0	0	0	0	1	0	0	0	14651	595	21	1	1466	1	SLC4A10	2	162751333	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10347091	162751333	80448040	58	7123										
XIRP2	129446	broad.mit.edu	37	chr2	168098403	168098403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgacaaagagatgacaaccCcagccaagcagattaaggta	9	10	0	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.chr2:168098403C>A	ENST00000409728.1	+	9	1347	c.1258C>A	c.(1258-1260)Cca>Aca	p.P420T	XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409195.1_Missense_Mutation_p.P387T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	212					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						GATGACAACCCCAGCCAAGCA	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.(1159-1161)Cca>Aca		xin actin-binding repeat containing 2							116	109	111					2																	168098403		1837	4087	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168098403C>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.1258C>A	2.37:g.168098403C>A	ENSP00000386619:p.Pro420Thr		Somatic				XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409728.1_Missense_Mutation_p.P420T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	p.P387T	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			8	1248	+			212					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.1159C>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455744	0.63401	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.79845	-1.27;-1.27;4.06;-1.27;-1.27;4.06;4.09;-1.31	5.27	5.27	0.74061	.	0.388255	0.28635	N	0.014644	D	0.87374	0.6161	M	0.62723	1.935	0.43118	D	0.994834	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;0.998;0.999;0.994;0.992	D	0.87835	0.2647	10	0.62326	D	0.03	-14.8165	12.8056	0.57612	0.0:0.9212:0.0:0.0788	.	212;387;420;212;165	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	T	387;420;387;387;420;387;165;165	ENSP00000386454:P387T;ENSP00000386619:P420T;ENSP00000386840:P387T;ENSP00000386724:P387T;ENSP00000415541:P420T;ENSP00000295237:P387T;ENSP00000387255:P165T;ENSP00000386981:P165T	ENSP00000295237:P387T	P	+	1	0	XIRP2	167806649	0.993000	0.37304	0.963000	0.40424	0.965000	0.64279	3.071000	0.50041	2.633000	0.89246	0.591000	0.81541	CCA		0.353	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		7	139	7	139	---	---	---	---	A	168098403	C	A	168098403	3	1	158	1	0	0	0	0	1	0	0	0	17427	623	22	1	1185	1	XIRP2	2	168098403	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5347070	168098403	75100970	59	7124										
TTN	7273	broad.mit.edu	37	chr2	179463879	179463879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gttctcctacttacagaagaGgtttcttgctgtttcaggtt	9	8	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.chr2:179463879G>T	ENST00000591111.1	-	240	51942	c.51718C>A	c.(51718-51720)Ctc>Atc	p.L17240I	TTN_ENST00000589042.1_Missense_Mutation_p.L18881I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I			Q8WZ42	TITIN_HUMAN	titin	17240	Fibronectin type-III 24. {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)			TTACAGAAGAGGTTTCTTGCT	0.353																																						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.(56641-56643)Ctc>Atc		titin							242	236	238					2																	179463879		1862	4085	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463879G>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.51718C>A	2.37:g.179463879G>T	ENSP00000465570:p.Leu17240Ile		Somatic				TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I|TTN_ENST00000591111.1_Missense_Mutation_p.L17240I|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I	p.L18881I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	56865	-			17240		R -> K (in a metastatic melanoma sample; somatic mutation).	Ig-like 107.		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.56641C>A		.	.	.	.	.	.	.	.	.	.	G	11.76	1.734031	0.30684	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.98	4.18	0.49190	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47600	0.1454	L	0.46670	1.46	0.36209	D	0.851254	B;B;B;B	0.30851	0.297;0.297;0.297;0.297	B;B;B;B	0.31390	0.081;0.081;0.081;0.129	T	0.60616	-0.7228	9	0.87932	D	0	.	13.2546	0.60070	0.1308:0.0:0.8692:0.0	.	9816;9941;10008;17240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16313;9816;10008;9941;9814	ENSP00000343764:L16313I;ENSP00000434586:L9816I;ENSP00000340554:L10008I;ENSP00000352154:L9941I	ENSP00000340554:L10008I	L	-	1	0	TTN	179172124	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	4.810000	0.62598	1.540000	0.49301	0.650000	0.86243	CTC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	360	8	360	---	---	---	---	T	179463879	G	T	179463879	3	4	158	1	0	0	0	0	1	0	0	0	16732	1000	35	1	51344	1	TTN	2	179463879	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	11365476	179463879	63735494	60	7125										
TTN	7273	broad.mit.edu	37	chr2	179497435	179497435	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aacggaatgttttgggctccCtggatacttcacactcaaac	8	11	2	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.chr2:179497435C>A	ENST00000591111.1	-	185	38599	c.38375G>T	c.(38374-38376)aGg>aTg	p.R12792M	TTN_ENST00000589042.1_Missense_Mutation_p.R14433M|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M			Q8WZ42	TITIN_HUMAN	titin	12792	Ig-like 85.				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)			TTTGGGCTCCCTGGATACTTC	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.(43297-43299)aGg>aTg		titin							175	172	173					2																	179497435		1900	4111	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497435C>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.38375G>T	2.37:g.179497435C>A	ENSP00000465570:p.Arg12792Met		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M|TTN_ENST00000591111.1_Missense_Mutation_p.R12792M|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M	p.R14433M	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		235	43522	-			12792			Fibronectin type-III 4.		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.43298G>T		.	.	.	.	.	.	.	.	.	.	C	14.83	2.651076	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.16	6.16	0.99307	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	0.84701	0.5530	M	0.84082	2.675	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;0.999;0.999	D	0.85022	0.0912	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	5368;5493;5560;12792	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	11865;5368;5560;5493;5368	ENSP00000343764:R11865M;ENSP00000434586:R5368M;ENSP00000340554:R5560M;ENSP00000352154:R5493M	ENSP00000340554:R5560M	R	-	2	0	TTN	179205680	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	AGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	226	7	226	---	---	---	---	A	179497435	C	A	179497435	3	1	158	1	0	0	0	0	1	0	0	0	16732	681	24	1	64907	1	TTN	2	179497435	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	33556	179497435	63701938	61	7126										
ANKRD44	91526	broad.mit.edu	37	chr2	197878372	197878372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cagtgcggcctttctcatccCtgatgtccaggtccaccaac	8	16	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.chr2:197878372C>A	ENST00000328737.2	-	18	1788	c.1712G>T	c.(1711-1713)aGg>aTg	p.R571M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	596								p.R411M(1)|p.R571M(1)		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)			TTTCTCATCCCTGATGTCCAG	0.517																																						ENST00000328737.2																			2	Substitution - Missense(2)	p.R411M(1)|p.R571M(1)	lung(2)	NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1711-1713)aGg>aTg		ankyrin repeat domain 44							222	211	215					2																	197878372		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197878372C>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.1712G>T	2.37:g.197878372C>A	ENSP00000331516:p.Arg571Met		Somatic				ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M	p.R571M			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1788	-			596					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1712G>T		.	.	.	.	.	.	.	.	.	.	C	16.21	3.058915	0.55325	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.43	4.43	0.53597	.	0.229124	0.45606	D	0.000351	T	0.72252	0.3437	L	0.55481	1.735	0.80722	D	1	P	0.49961	0.93	P	0.60345	0.873	T	0.72564	-0.4255	10	0.51188	T	0.08	.	8.5228	0.33287	0.0:0.8577:0.0:0.1423	.	614	Q8N8A2-2	.	M	411;588;571;571;571;271	ENSP00000403415:R411M;ENSP00000282272:R588M;ENSP00000331516:R571M;ENSP00000402420:R571M;ENSP00000338794:R571M;ENSP00000416319:R271M	ENSP00000282272:R588M	R	-	2	0	ANKRD44	197586617	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.535000	0.36061	2.294000	0.77228	0.655000	0.94253	AGG		0.517	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		8	230	8	230	---	---	---	---	A	197878372	C	A	197878372	3	1	158	1	0	0	0	0	1	0	0	0	672	681	24	1	1083	1	ANKRD44	2	197878372	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	18380937	197878372	45321001	62	7127										
C2orf80	389073	broad.mit.edu	37	chr2	209047698	209047698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttcaacttacagttcctccCactccagccaagttaagtct	4	15	2	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.chr2:209047698C>A	ENST00000341287.4	-	4	392	c.197G>T	c.(196-198)tGg>tTg	p.W66L	C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	66										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAGTTCCTCCCACTCCAGCCA	0.453																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(196-198)tGg>tTg		chromosome 2 open reading frame 80							159	154	156					2																	209047698		1937	4157	6094	SO:0001583	missense	389073							g.chr2:209047698C>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.197G>T	2.37:g.209047698C>A	ENSP00000343171:p.Trp66Leu		Somatic				C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	p.W66L	NM_001099334.2	NP_001092804	WXS	Illumina GAIIx	Phase_I	Q0P641	CB080_HUMAN			4	392	-			66					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.197G>T	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874155	0.51695	.	.	ENSG00000188674	ENST00000341287;ENST00000451346;ENST00000453017;ENST00000449053	T;T;T	0.58060	1.18;0.98;0.36	5.43	4.54	0.55810	.	0.526537	0.17787	N	0.162039	T	0.39809	0.1092	L	0.32530	0.975	0.30661	N	0.754442	B	0.34015	0.435	B	0.33620	0.167	T	0.44967	-0.9293	10	0.40728	T	0.16	2.9404	8.4266	0.32733	0.0:0.8268:0.0:0.1732	.	66	Q0P641	CB080_HUMAN	L	66;47;66;66	ENSP00000343171:W66L;ENSP00000405393:W47L;ENSP00000397144:W66L	ENSP00000343171:W66L	W	-	2	0	C2orf80	208755943	0.011000	0.17503	0.864000	0.33941	0.515000	0.34225	0.473000	0.22132	1.502000	0.48669	0.655000	0.94253	TGG		0.453	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		7	207	7	207	---	---	---	---	A	209047698	C	A	209047698	3	1	158	1	0	0	0	0	1	0	0	0	2197	595	21	1	408	1	C2orf80	2	209047698	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11169326	209047698	34151675	63	7128										
ERBB4	2066	broad.mit.edu	37	chr2	212426647	212426647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccttagctatctggacacacCagttaagcagcagttgtgat	9	10	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.chr2:212426647C>A	ENST00000342788.4	-	20	2778	c.2468G>T	c.(2467-2469)tGg>tTg	p.W823L	ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	823	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)	CTGGACACACCAGTTAAGCAG	0.408										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.(2467-2469)tGg>tTg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							139	129	132					2																	212426647		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.chr2:212426647C>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.2468G>T	2.37:g.212426647C>A	ENSP00000342235:p.Trp823Leu	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	p.W823L	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	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)	20	2778	-		Renal(323;0.06)|Lung NSC(271;0.197)	823			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2468G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646423	0.87958	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.60171	0.21;0.21;0.21	4.98	4.98	0.66077	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	0.67692	0.2920	L	0.31664	0.95	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;0.999;1.0	T	0.72027	-0.4414	10	0.87932	D	0	.	18.625	0.91334	0.0:1.0:0.0:0.0	.	813;813;823;823	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	823;823;813	ENSP00000342235:W823L;ENSP00000403204:W823L;ENSP00000385565:W813L	ENSP00000342235:W823L	W	-	2	0	ERBB4	212134892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.462000	0.83206	0.655000	0.94253	TGG		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		6	182	6	182	---	---	---	---	A	212426647	C	A	212426647	3	1	158	1	0	0	0	0	1	0	0	0	5209	595	21	1	1494	1	ERBB4	2	212426647	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3378949	212426647	30772726	64	7129										
PNKD	25953	broad.mit.edu	37	chr2	219136176	219136176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cctgcaaagccacagctcccCagagggcaaggaggaacctg	12	14	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.chr2:219136176C>A	ENST00000273077.4	+	2	191	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	AAMP_ENST00000444053.1_5'Flank|PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q|AAMP_ENST00000248450.4_5'Flank|AAMP_ENST00000420660.1_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	47				P -> S (in Ref. 9; AAH36457). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGCTCCCCAGAGGGCAAG	0.572																																						ENST00000273077.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(139-141)cCa>cAa		paroxysmal nonkinesigenic dyskinesia							70	78	75					2																	219136176		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219136176C>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.140C>A	2.37:g.219136176C>A	ENSP00000273077:p.Pro47Gln		Somatic				PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q	p.P47Q	NM_015488.4	NP_056303.3	WXS	Illumina GAIIx	Phase_I	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	191	+		Renal(207;0.0474)	47	P -> S (in Ref. 9; AAH36457).				A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.140C>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944489	0.53079	.	.	ENSG00000127838	ENST00000248451;ENST00000273077	D;D	0.96685	-2.15;-4.09	5.25	3.4	0.38934	.	0.245962	0.32769	N	0.005665	D	0.89532	0.6742	N	0.14661	0.345	0.28464	N	0.91573	B;B	0.29432	0.244;0.0	B;B	0.21917	0.037;0.002	D	0.84779	0.0772	10	0.62326	D	0.03	-0.5303	7.6523	0.28354	0.1603:0.7549:0.0:0.0848	.	47;47	Q8N490;Q8N490-2	PNKD_HUMAN;.	Q	47	ENSP00000248451:P47Q;ENSP00000273077:P47Q	ENSP00000248451:P47Q	P	+	2	0	PNKD	218844420	0.006000	0.16342	0.982000	0.44146	0.936000	0.57629	1.428000	0.34892	1.184000	0.42957	0.561000	0.74099	CCA		0.572	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			5	91	5	91	---	---	---	---	A	219136176	C	A	219136176	3	1	158	1	0	0	0	0	1	0	0	0	12146	594	21	1	146	1	PNKD	2	219136176	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6709529	219136176	24063197	65	7130										
KIAA1486	57624	broad.mit.edu	37	chr2	226446710	226446710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	attccaagaagattcctcctCccaaaccgaagcgaaatccg	6	14	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.chr2:226446710C>A	ENST00000272907.6	+	4	990	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	193					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GATTCCTCCTCCCAAACCGAA	0.478																																						ENST00000272907.6																			0											c.(577-579)Ccc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							110	114	113					2																	226446710		1918	4119	6037	SO:0001583	missense	57624							g.chr2:226446710C>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.577C>A	2.37:g.226446710C>A	ENSP00000272907:p.Pro193Thr		Somatic				NYAP2_ENST00000409269.2_Intron	p.P193T	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	990	+			193					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.577C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342251	0.81911	.	.	ENSG00000144460	ENST00000272907	T	0.46063	0.88	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63449	-0.6635	10	0.46703	T	0.11	-21.5056	20.3541	0.98825	0.0:1.0:0.0:0.0	.	193	Q9P242	K1486_HUMAN	T	193	ENSP00000272907:P193T	ENSP00000272907:P193T	P	+	1	0	KIAA1486	226154954	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.484000	0.81180	2.816000	0.96949	0.644000	0.83932	CCC		0.478	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		7	206	7	206	---	---	---	---	A	226446710	C	A	226446710	3	1	158	1	0	0	0	0	1	0	0	0	8237	855	30	3	587	3	KIAA1486	2	226446710	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7310534	226446710	16752663	66	7131										
ALPP	250	broad.mit.edu	37	chr2	233245442	233245442	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgcctgctgagcaggaacccCcgcggcttcttcctcttcgt	10	17	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.chr2:233245442C>A	ENST00000392027.2	+	8	1244	c.975C>A	c.(973-975)ccC>ccA	p.P325P	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	325					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)		GCAGGAACCCCCGCGGCTTCT	0.647																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(973-975)ccC>ccA		alkaline phosphatase, placental							56	68	64					2																	233245442		2201	4298	6499	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245442C>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.975C>A	2.37:g.233245442C>A			Somatic				AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	p.P325P	NM_001632.3	NP_001623.3	WXS	Illumina GAIIx	Phase_I	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)	8	1244	+		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)	325					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.975C>A	CCDS2490.1																																																																																				0.647	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		5	58	5	58	---	---	---	---	A	233245442	C	A	233245442	2	1	158	1	0	0	0	0	0	0	0	1	548	610	22	1		1	ALPP	2	233245442	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6798732	233245442	9953931	67	7132										
KCNJ13	3769	broad.mit.edu	37	chr2	233635818	233635818	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggggcatcatgatctagttcCagatcaccattcatctcagc	8	12	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.chr2:233635818C>A	ENST00000233826.3	-	2	394	c.255G>T	c.(253-255)ctG>ctT	p.L85L	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000373566.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	85					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCTAGTTCCAGATCACCAT	0.468																																						ENST00000233826.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(253-255)ctG>ctT		potassium inwardly-rectifying channel, subfamily J, member 13							234	217	223					2																	233635818		2203	4300	6503	SO:0001819	synonymous_variant	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635818C>A	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.255G>T	2.37:g.233635818C>A			Somatic				GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron	p.L85L	NM_002242.4	NP_002233.2	WXS	Illumina GAIIx	Phase_I	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	2	394	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	85					A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	37	c.255G>T	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	C	8.185	0.794707	0.16327	.	.	ENSG00000115474	ENST00000444142	.	.	.	5.6	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9962	0.30269	0.1211:0.6925:0.1176:0.0687	.	.	.	.	X	53	.	.	G	-	1	0	KCNJ13	233344062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.012000	0.40932	2.628000	0.89032	0.655000	0.94253	GGA		0.468	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		5	125	5	125	---	---	---	---	A	233635818	C	A	233635818	2	1	158	1	0	0	0	0	0	0	0	1	8047	581	21	1		1	KCNJ13	2	233635818	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	390376	233635818	9563555	68	7133										
INPP5D	3635	broad.mit.edu	37	chr2	234113040	234113040	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcaagcaggtgcccgcgcccCggctgcgctccttcacgtgc	13	18	1	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.chr2:234113040C>A	ENST00000359570.5	+	28	3208	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R	INPP5D_ENST00000450745.1_Silent_p.R834R|RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Silent_p.R834R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1082	Pro-rich.				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)		GCCCGCGCCCCGGCTGCGCTC	0.726																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3208-3210)Cgg>Agg		inositol polyphosphate-5-phosphatase, 145kDa							11	15	14					2																	234113040		1868	4093	5961	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.chr2:234113040C>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.3208C>A	2.37:g.234113040C>A			Somatic				INPP5D_ENST00000450745.1_Silent_p.R834R|INPP5D_ENST00000455936.2_Silent_p.R834R	p.R1070R			WXS	Illumina GAIIx	Phase_I	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)	28	3208	+		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)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.3208C>A																																																																																					0.726	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		3	16	3	16	---	---	---	---	A	234113040	C	A	234113040	2	1	158	1	0	0	0	0	0	0	0	1	7756	643	23	1		1	INPP5D	2	234113040	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	477222	234113040	9086333	69	7134										
UGT1A4	54657	broad.mit.edu	37	chr2	234628279	234628279	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taccccaggccgatcatgccCaacatggtcttcattggggg	11	13	3	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.chr2:234628279C>A	ENST00000373409.3	+	1	856	c.813C>A	c.(811-813)ccC>ccA	p.P271P	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	271					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)	CGATCATGCCCAACATGGTCT	0.512																																					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.(811-813)ccC>ccA									137	139	138					2																	234628279		2203	4297	6500	SO:0001819	synonymous_variant	54657							g.chr2:234628279C>A	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.813C>A	2.37:g.234628279C>A			Somatic				UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron	p.P271P	NM_007120.2	NP_009051.1	WXS	Illumina GAIIx	Phase_I				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	856	+		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	Silent	SNP	ENST00000373409.3	37	c.813C>A	CCDS33405.1																																																																																				0.512	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		7	181	7	181	---	---	---	---	A	234628279	C	A	234628279	2	1	158	1	0	0	0	0	0	0	0	1	16944	581	21	1		1	UGT1A4	2	234628279	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	515239	234628279	8571094	70	7135										
RBM44	375316	broad.mit.edu	37	chr2	238738070	238738070	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	caaatccactcagaattctcCatttctagattgcccagaac	4	13	3	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.chr2:238738070C>A	ENST00000409864.1	+	13	3068	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	RBM44_ENST00000316997.4_Silent_p.S938S			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	937						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)		CAGAATTCTCCATTTCTAGAT	0.413																																						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.(2812-2814)tcC>tcA		RNA binding motif protein 44							95	94	95					2																	238738070		1830	4084	5914	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238738070C>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.2814C>A	2.37:g.238738070C>A			Somatic				RBM44_ENST00000409864.1_Silent_p.S938S	p.S938S	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	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	2946	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	937					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2814C>A	CCDS46554.1																																																																																				0.413	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		7	150	7	150	---	---	---	---	A	238738070	C	A	238738070	2	1	158	1	0	0	0	0	0	0	0	1	13138	581	21	1		1	RBM44	2	238738070	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4109791	238738070	4461303	71	7136										
ARPC4	10093	broad.mit.edu	37	chr3	9845526	9845526	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccctactgtcttcttccctaGgggtatgatatcagctttct	7	12	4	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.chr3:9845526G>T	ENST00000397261.3	+	5	894		c.e5-1		ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa						actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTCTTCCCTAGGGGTATGATA	0.483																																						ENST00000397261.3																			0				breast(1)|lung(1)	2						c.e5-1		actin related protein 2/3 complex, subunit 4, 20kDa							200	207	205					3																	9845526		1969	4168	6137	SO:0001630	splice_region_variant	10093							g.chr3:9845526G>T	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"Actin related protein 2/3 complex subunits"	707	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p20", "actin related protein 2/3 complex, subunit 4 (20 kD)"	604226	"actin related protein 2/3 complex, subunit 4 (20 kD)"			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.331-1G>T	3.37:g.9845526G>T			Somatic				ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron		NM_005718.4	NP_005709.1	WXS	Illumina GAIIx	Phase_I					5	894	+	Medulloblastoma(99;0.227)							C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Splice_Site	SNP	ENST00000397261.3	37		CCDS43047.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266658	0.40095	.	.	ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000241553;ENSG00000250151	ENST00000498623;ENST00000287613;ENST00000397261;ENST00000433034;ENST00000453882	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC4-TTLL3;ARPC4	9820526	1.000000	0.71417	0.993000	0.49108	0.062000	0.15995	9.404000	0.97306	2.778000	0.95560	0.655000	0.94253	.		0.483	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2	NM_001024959	Intron	7	205	7	205	---	---	---	---	T	9845526	G	T	9845526	5	4	158	1	0	0	0	0	0	0	1	0	973	1014	35	1	348	1	ARPC4	3	9845526	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08		9845526	188176904	72	7137										
SGOL1	151648	broad.mit.edu	37	chr3	20219789	20219789	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccttcacaaataaatttctGgagctgtcatcactattggg	7	9	4	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.chr3:20219789G>T	ENST00000263753.4	-	4	529	c.390C>A	c.(388-390)tcC>tcA	p.S130S	SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000443724.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000412997.1_Silent_p.S130S	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	130	Necessary for interaction with PPP2CA and PPP2R1A.				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						ATAAATTTCTGGAGCTGTCAT	0.303																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(388-390)tcC>tcA		shugoshin-like 1 (S. pombe)							95	98	97					3																	20219789		2203	4299	6502	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.chr3:20219789G>T	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.390C>A	3.37:g.20219789G>T			Somatic				SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000263753.4_Silent_p.S130S|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.S130S	p.S130S	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			4	741	-			130			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.390C>A	CCDS33716.1																																																																																				0.303	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		5	100	5	100	---	---	---	---	T	20219789	G	T	20219789	2	4	158	1	0	0	0	0	0	0	0	1	14216	1335	47	1		1	SGOL1	3	20219789	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	10374263	20219789	177802641	73	7138										
SCN11A	11280	broad.mit.edu	37	chr3	38968409	38968409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agcttcaaaaatataaatccCagtgaagacacacctaaaaa	4	9	1	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.chr3:38968409C>A	ENST00000302328.3	-	4	700	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W|SCN11A_ENST00000450244.1_Missense_Mutation_p.G168W	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	168					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)	ATATAAATCCCAGTGAAGACA	0.363																																						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.(502-504)Ggg>Tgg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						71	75	74					3																	38968409		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38968409C>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.502G>T	3.37:g.38968409C>A	ENSP00000307599:p.Gly168Trp		Somatic				SCN11A_ENST00000302328.3_Missense_Mutation_p.G168W|SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W	p.G168W			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	4	700	-			168					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.502G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660057	0.67586	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.64	3.76	0.43208	Ion transport (1);	0.216774	0.48286	D	0.000196	D	0.98658	0.9550	M	0.74546	2.27	0.28371	N	0.919999	D	0.76494	0.999	D	0.79784	0.993	D	0.94592	0.7788	10	0.87932	D	0	.	8.3503	0.32299	0.1569:0.7604:0.0:0.0827	.	168	Q9UI33	SCNBA_HUMAN	W	168	ENSP00000307599:G168W;ENSP00000400945:G168W;ENSP00000416757:G168W;ENSP00000408028:G168W	ENSP00000307599:G168W	G	-	1	0	SCN11A	38943413	0.470000	0.25854	1.000000	0.80357	0.995000	0.86356	3.766000	0.55280	2.658000	0.90341	0.563000	0.77884	GGG		0.363	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		6	101	6	101	---	---	---	---	A	38968409	C	A	38968409	3	1	158	1	0	0	0	0	1	0	0	0	13913	594	21	1	4965	1	SCN11A	3	38968409	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	18748620	38968409	159054021	74	7139										
TRAK1	22906	broad.mit.edu	37	chr3	42251446	42251446	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctctcccacgcctagctacCtccactccagttcagcaccc	4	21	2	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.chr3:42251446C>A	ENST00000327628.5	+	14	2332	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000341421.3_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	644					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						GCCTAGCTACCTCCACTCCAG	0.567																																					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.(1930-1932)acC>acA		trafficking protein, kinesin binding 1							119	103	109					3																	42251446		2203	4300	6503	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.chr3:42251446C>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.1932C>A	3.37:g.42251446C>A			Somatic				TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T586T	p.T644T	NM_001042646.2	NP_001036111.1	WXS	Illumina GAIIx	Phase_I	Q9UPV9	TRAK1_HUMAN			14	2332	+			644					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1932C>A	CCDS43072.1																																																																																				0.567	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		5	70	5	70	---	---	---	---	A	42251446	C	A	42251446	2	1	158	1	0	0	0	0	0	0	0	1	16446	668	24	1		1	TRAK1	3	42251446	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3283037	42251446	155770984	75	7140										
BSN	8927	broad.mit.edu	37	chr3	49691124	49691124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgcccttttcccagggccctGggaccccagccaccacagct	9	19	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.chr3:49691124G>T	ENST00000296452.4	+	5	4249	c.4135G>T	c.(4135-4137)Ggg>Tgg	p.G1379W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1379					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)		CCAGGGCCCTGGGACCCCAGC	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.(4135-4137)Ggg>Tgg		bassoon presynaptic cytomatrix protein							53	54	53					3																	49691124		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691124G>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.4135G>T	3.37:g.49691124G>T	ENSP00000296452:p.Gly1379Trp		Somatic					p.G1379W	NM_003458.3	NP_003449.2	WXS	Illumina GAIIx	Phase_I	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	4249	+			1379					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4135G>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683234	0.29872	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	L	0.60455	1.87	0.44309	D	0.997189	D	0.76494	0.999	D	0.69142	0.962	T	0.22941	-1.0202	10	0.72032	D	0.01	.	14.5475	0.68041	0.0:0.0:0.853:0.147	.	1379	Q9UPA5	BSN_HUMAN	W	1379	ENSP00000296452:G1379W	ENSP00000296452:G1379W	G	+	1	0	BSN	49666128	1.000000	0.71417	0.933000	0.37362	0.469000	0.32828	4.622000	0.61240	2.466000	0.83321	0.462000	0.41574	GGG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	103	5	103	---	---	---	---	T	49691124	G	T	49691124	3	4	158	1	0	0	0	0	1	0	0	0	1530	1348	47	1	4153	1	BSN	3	49691124	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	7439678	49691124	148331306	76	7141										
APEH	327	broad.mit.edu	37	chr3	49714355	49714355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gagctcctctcggatgactcCctggctgtctcttctccccg	9	17	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.chr3:49714355C>A	ENST00000296456.5	+	10	1297	c.897C>A	c.(895-897)tcC>tcA	p.S299S	APEH_ENST00000438011.1_Silent_p.S299S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	299					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)		CGGATGACTCCCTGGCTGTCT	0.592																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(895-897)tcC>tcA		acylaminoacyl-peptide hydrolase							143	126	132					3																	49714355		2203	4300	6503	SO:0001819	synonymous_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49714355C>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.897C>A	3.37:g.49714355C>A			Somatic				APEH_ENST00000438011.1_Silent_p.S299S	p.S299S	NM_001640.3	NP_001631.3	WXS	Illumina GAIIx	Phase_I	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1297	+			299					Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.897C>A	CCDS2801.1																																																																																				0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	117	7	117	---	---	---	---	A	49714355	C	A	49714355	2	1	158	1	0	0	0	0	0	0	0	1	768	610	22	1		1	APEH	3	49714355	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	23231	49714355	148308075	77	7142										
ARF4	378	broad.mit.edu	37	chr3	57558024	57558024	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacaagtggcttgaacatacCactgtaaagagaagacaaga	9	8	0	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.chr3:57558024C>A	ENST00000303436.6	-	6	725	c.458G>T	c.(457-459)tGg>tTg	p.W153L	ARF4_ENST00000496292.1_Splice_Site_p.W126L|ARF4_ENST00000489843.1_Splice_Site_p.W44L	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	153					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTGAACATACCACTGTAAAGA	0.343																																						ENST00000303436.6																			0				large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(457-459)tGg>tTg		ADP-ribosylation factor 4							102	102	102					3																	57558024		2203	4300	6503	SO:0001630	splice_region_variant	378				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	g.chr3:57558024C>A	M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"ADP-ribosylation factors"	655	protein-coding gene	gene with protein product		601177	"ADP-ribosylation factor 2"	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.457-1G>T	3.37:g.57558024C>A			Somatic				ARF4_ENST00000489843.1_Splice_Site_p.W44L|ARF4_ENST00000496292.1_Splice_Site_p.W126L	p.W153L	NM_001660.3	NP_001651.1	WXS	Illumina GAIIx	Phase_I	P18085	ARF4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)	6	725	-			153					B2R7J7|P21371	Splice_Site	SNP	ENST00000303436.6	37	c.458G>T	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585210	0.86748	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	T;T	0.62498	0.02;0.02	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.85626	0.5740	H	0.95328	3.655	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.68765	0.96;0.922	D	0.89798	0.3973	10	0.87932	D	0	-3.5504	19.3747	0.94503	0.0:1.0:0.0:0.0	.	126;153	C9JAK5;P18085	.;ARF4_HUMAN	L	153;126	ENSP00000306010:W153L;ENSP00000417501:W126L	ENSP00000306010:W153L	W	-	2	0	ARF4	57533064	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.757000	0.85209	2.564000	0.86499	0.591000	0.81541	TGG		0.343	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660	Missense_Mutation	6	157	6	157	---	---	---	---	A	57558024	C	A	57558024	5	1	158	1	0	0	0	0	0	0	1	0	846	608	21	1	88	1	ARF4	3	57558024	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7843669	57558024	140464406	78	7143										
PTPRG	5793	broad.mit.edu	37	chr3	62267307	62267307	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtgaggcctttaccgtcaccCttatcagcaaagacagactg	9	12	2	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.chr3:62267307C>A	ENST00000474889.1	+	27	4212	c.3835C>A	c.(3835-3837)Ctt>Att	p.L1279I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1279	Tyrosine-protein phosphatase 2. {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)		TACCGTCACCCTTATCAGCAA	0.418																																						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.(3835-3837)Ctt>Att		protein tyrosine phosphatase, receptor type, G							148	127	134					3																	62267307		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.chr3:62267307C>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.3835C>A	3.37:g.62267307C>A	ENSP00000418112:p.Leu1279Ile		Somatic				PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I|PTPRG-AS1_ENST00000479018.1_RNA	p.L1279I	NM_002841.3	NP_002832.3	WXS	Illumina GAIIx	Phase_I	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	27	4212	+			1279			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3835C>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399278	0.83120	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83914	-1.78;-1.78	4.98	4.1	0.47936	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.72894	2.215	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.968;0.974	D;P;D	0.87578	0.998;0.57;0.91	D	0.91373	0.5121	10	0.87932	D	0	.	15.4113	0.74923	0.0:0.8603:0.1397:0.0	.	525;1250;1279	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1279;1250	ENSP00000418112:L1279I;ENSP00000295874:L1250I	ENSP00000295874:L1250I	L	+	1	0	PTPRG	62242347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	1.302000	0.44855	0.655000	0.94253	CTT		0.418	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		5	98	5	98	---	---	---	---	A	62267307	C	A	62267307	3	1	158	1	0	0	0	0	1	0	0	0	12802	681	24	1	3941	1	PTPRG	3	62267307	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4709283	62267307	135755123	79	7144										
ROBO1	6091	broad.mit.edu	37	chr3	78696802	78696802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttggtgtgaaggtaaaagacGggactgaaaaatcaaaacaa	11	4	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.chr3:78696802G>T	ENST00000464233.1	-	20	2929	c.2816C>A	c.(2815-2817)cCg>cAg	p.P939Q	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.P900Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					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)		GGTAAAAGACGGGACTGAAAA	0.343																																						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.(2698-2700)cCg>cAg		roundabout, axon guidance receptor, homolog 1 (Drosophila)							245	237	240					3																	78696802		1829	4094	5923	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.chr3:78696802G>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.2816C>A	3.37:g.78696802G>T	ENSP00000420321:p.Pro939Gln		Somatic				ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939Q	p.P900Q			WXS	Illumina GAIIx	Phase_I	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)	18	3696	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	939					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2699C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643122	0.67244	.	.	ENSG00000169855	ENST00000436010;ENST00000464233;ENST00000398414	T;T	0.60424	0.22;0.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	L	0.41236	1.265	0.80722	D	1	D;P;D	0.89917	1.0;0.951;0.988	D;P;D	0.91635	0.999;0.686;0.918	T	0.65364	-0.6186	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	903;939;900	Q9Y6N7-3;Q9Y6N7;Q9Y6N7-4	.;ROBO1_HUMAN;.	Q	900;939;943	ENSP00000406043:P900Q;ENSP00000420321:P939Q	.	P	-	2	0	ROBO1	78779492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.821000	0.97095	0.555000	0.69702	CCG		0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		7	395	7	395	---	---	---	---	T	78696802	G	T	78696802	3	4	158	1	0	0	0	0	1	0	0	0	13513	1116	39	1	2187	1	ROBO1	3	78696802	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	16429495	78696802	119325628	80	7145										
BTLA	151888	broad.mit.edu	37	chr3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacatgaggcctgttagcacAgtatttcacagggcattcta	9	10	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.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		Somatic				BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	p.C63R	NM_181780.3	NP_861445	WXS	Illumina GAIIx	Phase_I	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	46	75	---	---	---	---	G	112198518	A	G	112198518	3	3	158	1	0	0	0	0	1	0	0	0	1558	188	7	2	698	2	BTLA	3	112198518	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	33501716	112198518	85823912	81	7146										
GTPBP8	29083	broad.mit.edu	37	chr3	112710070	112710070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcgtatctttgacccaagccCggaggacatagccagggcgg	14	12	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.chr3:112710070C>A	ENST00000383678.2	+	1	306	c.224C>A	c.(223-225)cCg>cAg	p.P75Q	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.P75Q|GTPBP8_ENST00000467752.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	75					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GACCCAAGCCCGGAGGACATA	0.622																																						ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(223-225)cCg>cAg		GTP-binding protein 8 (putative)							51	49	50					3																	112710070		2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710070C>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.224C>A	3.37:g.112710070C>A	ENSP00000373176:p.Pro75Gln		Somatic				GTPBP8_ENST00000383678.2_Missense_Mutation_p.P75Q	p.P75Q	NM_138485.1	NP_612494.1	WXS	Illumina GAIIx	Phase_I	Q8N3Z3	GTPB8_HUMAN			1	239	+			75					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.224C>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466133	0.43839	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.41400	1.01;1.0	6.17	2.35	0.29111	.	0.217596	0.39909	N	0.001237	T	0.21267	0.0512	N	0.08118	0	0.80722	D	1	B;B	0.22683	0.071;0.073	B;B	0.26770	0.052;0.073	T	0.04522	-1.0945	10	0.56958	D	0.05	-21.8216	5.8866	0.18884	0.0:0.2106:0.1288:0.6606	.	75;75	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	Q	75	ENSP00000373176:P75Q;ENSP00000373175:P75Q	ENSP00000295864:P75Q	P	+	2	0	GTPBP8	114192760	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	2.508000	0.45450	0.205000	0.20568	-1.105000	0.02106	CCG		0.622	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		4	58	4	58	---	---	---	---	A	112710070	C	A	112710070	3	1	158	1	0	0	0	0	1	0	0	0	6884	652	23	1	226	1	GTPBP8	3	112710070	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	511552	112710070	85312360	82	7147										
ATP6V1A	523	broad.mit.edu	37	chr3	113507718	113507718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgaagtcctccgggacttccCagaggtctgtataaagcttc	10	11	1	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.chr3:113507718C>A	ENST00000273398.3	+	7	983	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	292					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)	CGGGACTTCCCAGAGGTCTGT	0.388																																						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.(874-876)cCa>cAa		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							97	104	102					3																	113507718		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.chr3:113507718C>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.875C>A	3.37:g.113507718C>A	ENSP00000273398:p.Pro292Gln		Somatic				ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	p.P292Q	NM_001690.3	NP_001681.2	WXS	Illumina GAIIx	Phase_I	P38606	VATA_HUMAN			7	983	+			292					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.875C>A	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002114	0.93227	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;T	0.86627	-2.15;-1.37	5.88	5.88	0.94601	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94474	0.7687	10	0.87932	D	0	-8.485	20.2187	0.98312	0.0:1.0:0.0:0.0	.	292	P38606	VATA_HUMAN	Q	9;292;259	ENSP00000273398:P292Q;ENSP00000439874:P259Q	ENSP00000273398:P292Q	P	+	2	0	ATP6V1A	114990408	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.280000	0.78610	2.780000	0.95670	0.655000	0.94253	CCA		0.388	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		5	88	5	88	---	---	---	---	A	113507718	C	A	113507718	3	1	158	1	0	0	0	0	1	0	0	0	1177	594	21	1	897	1	ATP6V1A	3	113507718	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	797648	113507718	84514712	83	7148										
DZIP1L	199221	broad.mit.edu	37	chr3	137796416	137796416	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgaagtgcttcagcaaagtGgggttacgcctcagagctgc	13	10	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.chr3:137796416G>T	ENST00000327532.2	-	11	1709	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	449					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.P449P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCAGCAAAGTGGGGTTACGCC	0.532																																						ENST00000327532.2																			1	Substitution - coding silent(1)	p.P449P(1)	lung(1)	breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(1345-1347)ccC>ccA		DAZ interacting zinc finger protein 1-like							206	165	179					3																	137796416		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137796416G>T	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.1347C>A	3.37:g.137796416G>T			Somatic				DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	p.P449P	NM_173543.2	NP_775814.2	WXS	Illumina GAIIx	Phase_I	Q8IYY4	DZI1L_HUMAN			11	1709	-			449					C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1347C>A	CCDS3096.1																																																																																				0.532	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		6	153	6	153	---	---	---	---	T	137796416	G	T	137796416	2	4	158	1	0	0	0	0	0	0	0	1	4864	1335	47	1		1	DZIP1L	3	137796416	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	24288698	137796416	60226014	84	7149										
MFSD1	64747	broad.mit.edu	37	chr3	158541297	158541297	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtagttcctgaacatcagctGggaactgcatatggcttgta	11	8	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.chr3:158541297G>T	ENST00000264266.8	+	12	1220	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L	MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000415822.2_Silent_p.L435L			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	386					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACATCAGCTGGGAACTGCAT	0.418																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(1303-1305)ctG>ctT		major facilitator superfamily domain containing 1							293	259	270					3																	158541297		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158541297G>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.1158G>T	3.37:g.158541297G>T			Somatic				MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000264266.8_Silent_p.L386L	p.L435L	NM_022736.2	NP_073573.2	WXS	Illumina GAIIx	Phase_I	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1446	+			386					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.1305G>T																																																																																					0.418	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		7	150	7	150	---	---	---	---	T	158541297	G	T	158541297	2	4	158	1	0	0	0	0	0	0	0	1	9527	1335	47	1		1	MFSD1	3	158541297	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	20744881	158541297	39481133	85	7150										
PIK3CA	5290	broad.mit.edu	37	chr3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctttgtgcaacctacgtgaAtgtaaatattcgagacattg	8	7	1	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.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)	Somatic					p.N345I	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	T	178921552	A	T	178921552	3	4	158	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	20380255	178921552	19100878	86	7151										
PIK3CA	5290	broad.mit.edu	37	chr3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tacacgagatcctctctctgAaatcactgagcaggagaaag	9	10	3	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.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)	Somatic					p.E542A	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	C	178936083	A	C	178936083	3	2	158	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	87	7152										
CHRD	8646	broad.mit.edu	37	chr3	184102330	184102330	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcccctgcccccaggccgtGggtatctgccctgggctggg	14	17	1	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.chr3:184102330G>T	ENST00000204604.1	+	13	1692	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	CHRD_ENST00000348986.3_Silent_p.V442V|CHRD_ENST00000450923.1_Silent_p.V482V|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.V112V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	482	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				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)			CCCAGGCCGTGGGTATCTGCC	0.602																																						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.(1444-1446)gtG>gtT		chordin							102	112	109					3																	184102330		2203	4299	6502	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.chr3:184102330G>T	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.1446G>T	3.37:g.184102330G>T			Somatic				EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.V482V|CHRD_ENST00000545352.1_Silent_p.V112V|CHRD_ENST00000348986.3_Silent_p.V442V	p.V482V	NM_003741.2	NP_003732.2	WXS	Illumina GAIIx	Phase_I	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1692	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		482			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.1446G>T	CCDS3266.1																																																																																				0.602	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		7	213	7	213	---	---	---	---	T	184102330	G	T	184102330	2	4	158	1	0	0	0	0	0	0	0	1	3372	1335	47	1		1	CHRD	3	184102330	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	5166247	184102330	13920100	88	7153										
HES1	3280	broad.mit.edu	37	chr3	193855647	193855647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcaatgccatgacctacccCgggcagccgcaccccgcctt	8	19	1	1	rs144918671		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.chr3:193855647C>A	ENST00000232424.3	+	4	704	c.468C>A	c.(466-468)ccC>ccA	p.P156P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCTACCCCGGGCAGCCGC	0.731																																						ENST00000232424.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(466-468)ccC>ccA		hes family bHLH transcription factor 1		C		0,4404		0,0,2202	31	33	32		468	-6.1	0.9	3	dbSNP_134	32	1,8593		0,1,4296	no	coding-synonymous	HES1	NM_005524.3		0,1,6498	AA,AC,CC		0.0116,0.0,0.0077		156/281	193855647	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855647C>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.468C>A	3.37:g.193855647C>A			Somatic					p.P156P	NM_005524.3	NP_005515.1	WXS	Illumina GAIIx	Phase_I	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	704	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		156			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.468C>A	CCDS3305.1																																																																																				0.731	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			4	68	4	68	---	---	---	---	A	193855647	C	A	193855647	2	1	158	1	0	0	0	0	0	0	0	1	7065	639	23	1		1	HES1	3	193855647	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9753317	193855647	4166783	89	7154										
ADD1	118	broad.mit.edu	37	chr4	2929962	2929962	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acctttaagccaactctcccCgatctgtcccctgatgaacc	5	17	2	2	rs201859948	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.chr4:2929962C>A	ENST00000398129.1	+	14	1946	c.1926C>A	c.(1924-1926)ccC>ccA	p.P642P	ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000264758.7_Silent_p.P673P|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398123.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	642					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACTCTCCCCGATCTGTCCC	0.562																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000264758.7																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2017-2019)ccC>ccA		adducin 1 (alpha)							205	231	222					4																	2929962		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2929962C>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1926C>A	4.37:g.2929962C>A			Somatic				ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P642P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P	p.P673P	NM_014189.3	NP_054908.2	WXS	Illumina GAIIx	Phase_I	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2207	+			642					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.2019C>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125847	0.20959	.	.	ENSG00000087274	ENST00000514940;ENST00000536424	T;T	0.55760	2.04;0.5	4.7	-8.48	0.00935	.	0.157735	0.64402	D	0.000020	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	7	0.36615	T	0.2	-12.4756	2.1008	0.03679	0.2691:0.1794:0.0759:0.4756	.	.	.	.	Q	379;90	ENSP00000424143:P379Q;ENSP00000438069:P90Q	ENSP00000424143:P379Q	P	+	2	0	ADD1	2899760	0.015000	0.18098	0.220000	0.23810	0.783000	0.44284	-1.038000	0.03553	-1.388000	0.02092	-1.083000	0.02208	CCG		0.562	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		9	317	9	317	---	---	---	---	A	2929962	C	A	2929962	2	1	158	1	0	0	0	0	0	0	0	1	304	639	23	1		1	ADD1	4	2929962	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		2929962	188224314	90	7155										
TBC1D1	23216	broad.mit.edu	37	chr4	38016162	38016162	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcagctccatccgtcaggcGgggaagatcgcccggcagga	14	13	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.chr4:38016162G>T	ENST00000261439.4	+	3	805	c.450G>T	c.(448-450)gcG>gcT	p.A150A	TBC1D1_ENST00000508802.1_Silent_p.A150A	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	150					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.A150A(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCGTCAGGCGGGGAAGATCG	0.597																																						ENST00000261439.4																			1	Substitution - coding silent(1)	p.A150A(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.(448-450)gcG>gcT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							77	77	77					4																	38016162		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38016162G>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.450G>T	4.37:g.38016162G>T			Somatic				TBC1D1_ENST00000508802.1_Silent_p.A150A	p.A150A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	WXS	Illumina GAIIx	Phase_I	Q86TI0	TBCD1_HUMAN			3	805	+			150					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.450G>T	CCDS33972.1																																																																																				0.597	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		5	148	5	148	---	---	---	---	T	38016162	G	T	38016162	2	4	158	1	0	0	0	0	0	0	0	1	15594	1103	39	1		1	TBC1D1	4	38016162	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	35086200	38016162	153138114	91	7156										
UGT2B15	7366	broad.mit.edu	37	chr4	69520828	69520828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttaccaagaaggtcattctGgggtaaccacttgtacagtc	9	10	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.chr4:69520828G>T	ENST00000338206.5	-	4	1087	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					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)	AGGTCATTCTGGGGTAACCAC	0.358																																						ENST00000338206.5																			0											c.(1078-1080)Cag>Aag		UDP glucuronosyltransferase 2 family, polypeptide B15							161	163	162					4																	69520828		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69520828G>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.1078C>A	4.37:g.69520828G>T	ENSP00000341045:p.Gln360Lys		Somatic					p.Q360K	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	P54855	UDB15_HUMAN			4	1087	-			360					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1078C>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	g	16.66	3.185913	0.57909	.	.	ENSG00000196620	ENST00000338206	T	0.74526	-0.85	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000002	D	0.88976	0.6584	H	0.97103	3.94	0.30945	N	0.725373	D	0.71674	0.998	D	0.71414	0.973	D	0.87736	0.2582	10	0.87932	D	0	.	10.831	0.46661	0.0:0.0:1.0:0.0	.	360	P54855	UDB15_HUMAN	K	360	ENSP00000341045:Q360K	ENSP00000341045:Q360K	Q	-	1	0	UGT2B15	69203423	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	8.584000	0.90798	1.421000	0.47157	0.455000	0.32223	CAG		0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		7	253	7	253	---	---	---	---	T	69520828	G	T	69520828	3	4	158	1	0	0	0	0	1	0	0	0	16955	1357	47	1	2143	1	UGT2B15	4	69520828	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	31504666	69520828	121633448	92	7157										
SHROOM3	57619	broad.mit.edu	37	chr4	77675725	77675725	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cctctgccttcagccattccCtctggctactgctcacagga	7	17	4	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.chr4:77675725C>A	ENST00000296043.6	+	7	5042	c.4089C>A	c.(4087-4089)ccC>ccA	p.P1363P	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1363					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)			CAGCCATTCCCTCTGGCTACT	0.642																																						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.(4087-4089)ccC>ccA		shroom family member 3							64	62	63					4																	77675725		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:77675725C>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.4089C>A	4.37:g.77675725C>A			Somatic					p.P1363P	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	5042	+			1363					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.4089C>A	CCDS3579.2																																																																																				0.642	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	59	5	59	---	---	---	---	A	77675725	C	A	77675725	2	1	158	1	0	0	0	0	0	0	0	1	14295	668	24	1		1	SHROOM3	4	77675725	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	8154897	77675725	113478551	93	7158										
CNOT6L	246175	broad.mit.edu	37	chr4	78647404	78647404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaagccatgtgtgattctccCttctgagcttccattctttc	7	12	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.chr4:78647404C>A	ENST00000504123.1	-	11	1502	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	458	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						GTGATTCTCCCTTCTGAGCTT	0.418																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1372-1374)Ggg>Tgg		CCR4-NOT transcription complex, subunit 6-like							204	188	193					4																	78647404		1854	4103	5957	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78647404C>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.1372G>T	4.37:g.78647404C>A	ENSP00000424896:p.Gly458Trp		Somatic				CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W	p.G458W			WXS	Illumina GAIIx	Phase_I	Q96LI5	CNO6L_HUMAN			11	1502	-			458					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1372G>T		.	.	.	.	.	.	.	.	.	.	C	16.06	3.014431	0.54468	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	T;T;T;T	0.80738	-1.41;-1.41;-1.41;0.84	5.88	5.88	0.94601	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	L	0.38175	1.15	0.80722	D	1	B;D	0.67145	0.02;0.996	B;D	0.69654	0.052;0.965	D	0.85170	0.0997	10	0.49607	T	0.09	-2.5545	20.2228	0.98330	0.0:1.0:0.0:0.0	.	431;458	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	W	458;458;465;233	ENSP00000424896:G458W;ENSP00000264903:G458W;ENSP00000425571:G465W;ENSP00000426320:G233W	ENSP00000264903:G458W	G	-	1	0	CNOT6L	78866428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.857000	0.62939	2.789000	0.95967	0.655000	0.94253	GGG		0.418	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			7	314	7	314	---	---	---	---	A	78647404	C	A	78647404	3	1	158	1	0	0	0	0	1	0	0	0	3623	681	24	1	303	1	CNOT6L	4	78647404	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	971679	78647404	112506872	94	7159										
MTTP	4547	broad.mit.edu	37	chr4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gggctaccgcatttcctccaAcgtggatgtggccttactat	10	12	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.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		Somatic				MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	p.N62S	NM_000253.2	NP_000244.2	WXS	Illumina GAIIx	Phase_I	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	32	103	---	---	---	---	G	100503185	A	G	100503185	3	3	158	1	0	0	0	0	1	0	0	0	9964	43	2	2	191	2	MTTP	4	100503185	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	21855781	100503185	90651091	95	7160										
NHEDC2	133308	broad.mit.edu	37	chr4	103979095	103979095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	attcactgccagtaattgacCaaactacagcccacagaaga	6	12	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.chr4:103979095C>A	ENST00000394785.3	-	4	936	c.305G>T	c.(304-306)tGg>tTg	p.W102L	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	102					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)										AGTAATTGACCAAACTACAGC	0.363																																						ENST00000394785.3																			0											c.(304-306)tGg>tTg		solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2							133	139	137					4																	103979095		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103979095C>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.305G>T	4.37:g.103979095C>A	ENSP00000378265:p.Trp102Leu		Somatic				SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	p.W102L	NM_178833.4	NP_849155.2	WXS	Illumina GAIIx	Phase_I	Q86UD5	NHDC2_HUMAN			4	936	-			102					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.305G>T	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925954	0.73327	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T;T	0.27256	1.69;1.71;1.68;1.69	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.74881	2.28	0.80722	D	1	D	0.59767	0.986	P	0.48304	0.573	T	0.41124	-0.9526	10	0.52906	T	0.07	-3.0004	19.1728	0.93585	0.0:1.0:0.0:0.0	.	102	Q86UD5	SL9B2_HUMAN	L	102;2;102;102;102	ENSP00000354574:W102L;ENSP00000421943:W2L;ENSP00000345241:W102L;ENSP00000378265:W102L	ENSP00000345241:W102L	W	-	2	0	SLC9B2	104198544	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	5.129000	0.64739	2.587000	0.87381	0.591000	0.81541	TGG		0.363	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		7	221	7	221	---	---	---	---	A	103979095	C	A	103979095	3	1	158	1	0	0	0	0	1	0	0	0	10401	595	21	1	1344	1	NHEDC2	4	103979095	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3475910	103979095	87175181	96	7161										
FAT4	79633	broad.mit.edu	37	chr4	126319956	126319956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taggtagaaataacacttcaGgatatcaatgacaatccacc	6	9	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.chr4:126319956G>T	ENST00000394329.3	+	2	5206	c.5193G>T	c.(5191-5193)caG>caT	p.Q1731H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1731	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						TAACACTTCAGGATATCAATG	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.(5191-5193)caG>caT		FAT atypical cadherin 4							178	166	170					4																	126319956		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126319956G>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.5193G>T	4.37:g.126319956G>T	ENSP00000377862:p.Gln1731His		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	p.Q1731H	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			2	5206	+			1731			Cadherin 16.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5193G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684136	0.68157	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	4.65;-1.0	5.81	2.2	0.27929	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32703	U	0.005754	T	0.78419	0.4280	L	0.46741	1.465	0.41455	D	0.988002	D;D	0.69078	0.997;0.997	D;P	0.77004	0.989;0.862	T	0.72184	-0.4367	10	0.26408	T	0.33	.	10.2511	0.43370	0.4526:0.0:0.5474:0.0	.	29;1731	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	H	1731;29	ENSP00000377862:Q1731H;ENSP00000335169:Q29H	ENSP00000335169:Q29H	Q	+	3	2	FAT4	126539406	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.506000	0.22658	0.094000	0.17404	0.655000	0.94253	CAG		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	126	6	126	---	---	---	---	T	126319956	G	T	126319956	3	4	158	1	0	0	0	0	1	0	0	0	5692	991	35	1	5199	1	FAT4	4	126319956	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	22340861	126319956	64834320	97	7162										
CPE	1363	broad.mit.edu	37	chr4	166405652	166405652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggcatactcttctttcaaccCggccatgtctgaccccaatc	6	16	4	1	rs374345764		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.chr4:166405652C>A	ENST00000402744.4	+	5	1149	c.869C>A	c.(868-870)cCg>cAg	p.P290Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					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.P290Q(2)		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)"	TCTTTCAACCCGGCCATGTCT	0.512																																						ENST00000402744.4																			2	Substitution - Missense(2)	p.P290Q(2)	lung(2)	endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(868-870)cCg>cAg		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						280	272	275					4																	166405652		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.chr4:166405652C>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.869C>A	4.37:g.166405652C>A	ENSP00000386104:p.Pro290Gln		Somatic					p.P290Q	NM_001873.2	NP_001864.1	WXS	Illumina GAIIx	Phase_I	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1149	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	290					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.869C>A	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460400	0.63401	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10099	2.91	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.74258	2.255	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	T	0.02721	-1.1119	10	0.13853	T	0.58	-21.6453	20.1284	0.97992	0.0:1.0:0.0:0.0	.	290	P16870	CBPE_HUMAN	Q	290;254	ENSP00000386104:P290Q	ENSP00000261510:P254Q	P	+	2	0	CPE	166625102	1.000000	0.71417	0.970000	0.41538	0.367000	0.29736	7.228000	0.78079	2.829000	0.97493	0.650000	0.86243	CCG		0.512	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		9	437	9	437	---	---	---	---	A	166405652	C	A	166405652	3	1	158	1	0	0	0	0	1	0	0	0	3799	652	23	1	887	1	CPE	4	166405652	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	40085696	166405652	24748624	98	7163										
CLCN3	1182	broad.mit.edu	37	chr4	170613387	170613387	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agtttaggaaaagaaggtccCctggtacatgttgcctgttg	12	7	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.chr4:170613387C>A	ENST00000513761.1	+	7	1411	c.852C>A	c.(850-852)ccC>ccA	p.P284P	CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P|CLCN3_ENST00000360642.3_Silent_p.P284P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	284					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)		AAGAAGGTCCCCTGGTACATG	0.403																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(850-852)ccC>ccA		chloride channel, voltage-sensitive 3							195	188	191					4																	170613387		2203	4300	6503	SO:0001819	synonymous_variant	1182				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.chr4:170613387C>A	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.852C>A	4.37:g.170613387C>A			Somatic				CLCN3_ENST00000360642.3_Silent_p.P284P|CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P	p.P284P	NM_001829.3	NP_001820.2	WXS	Illumina GAIIx	Phase_I	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	7	1411	+		Prostate(90;0.00601)|Renal(120;0.0183)	284					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.852C>A	CCDS34101.1																																																																																				0.403	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			8	215	8	215	---	---	---	---	A	170613387	C	A	170613387	2	1	158	1	0	0	0	0	0	0	0	1	3464	610	22	1		1	CLCN3	4	170613387	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4207735	170613387	20540889	99	7164										
ZDHHC11	79844	broad.mit.edu	37	chr5	825296	825296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tacccgtgccgtcgaatcccCatcctggtttactgaagtgc	9	14	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.chr5:825296C>A	ENST00000283441.8	-	8	1389	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	336						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTCGAATCCCCATCCTGGTTT	0.547																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(1006-1008)Ggg>Tgg		zinc finger, DHHC-type containing 11							190	136	154					5																	825296		2203	4296	6499	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825296C>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1006G>T	5.37:g.825296C>A	ENSP00000283441:p.Gly336Trp		Somatic				ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	p.G336W	NM_024786.2	NP_079062.1	WXS	Illumina GAIIx	Phase_I	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		8	1389	-			336					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1006G>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	3.835	-0.034940	0.07543	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.30714	1.52;1.52	0.131	-0.261	0.12963	.	.	.	.	.	T	0.26195	0.0639	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.20739	-1.0266	8	0.66056	D	0.02	.	.	.	.	.	336	Q9H8X9	ZDH11_HUMAN	W	336	ENSP00000397719:G336W;ENSP00000283441:G336W	ENSP00000283441:G336W	G	-	1	0	ZDHHC11	878296	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.325000	0.01115	-1.313000	0.02303	-1.326000	0.01283	GGG		0.547	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	135	7	135	---	---	---	---	A	825296	C	A	825296	3	1	158	1	0	0	0	0	1	0	0	0	17598	594	21	1	252	1	ZDHHC11	5	825296	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		825296	180089964	100	7165										
PDZD2	23037	broad.mit.edu	37	chr5	32090293	32090293	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacacagcctgggtcgctctCgggacagccaggtccctgtg	13	15	1	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.chr5:32090293C>A	ENST00000438447.1	+	20	7127	c.6739C>A	c.(6739-6741)Cgg>Agg	p.R2247R	PDZD2_ENST00000282493.3_Silent_p.R2247R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2247			R -> Q (in dbSNP:rs10066063).		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						GGGTCGCTCTCGGGACAGCCA	0.602																																						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.(6739-6741)Cgg>Agg		PDZ domain containing 2							132	142	139					5																	32090293		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090293C>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.6739C>A	5.37:g.32090293C>A			Somatic				PDZD2_ENST00000282493.3_Silent_p.R2247R	p.R2247R			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	7127	+			2247		R -> Q (in dbSNP:rs10066063).			Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6739C>A	CCDS34137.1																																																																																				0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	261	6	261	---	---	---	---	A	32090293	C	A	32090293	2	1	158	1	0	0	0	0	0	0	0	1	11701	875	31	3		3	PDZD2	5	32090293	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	31264997	32090293	148824967	101	7166										
GHR	2690	broad.mit.edu	37	chr5	42719419	42719419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccattcatatagtacagtccCcacagggcctcatactcaat	5	14	3	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.chr5:42719419C>A	ENST00000230882.4	+	10	2000	c.1810C>A	c.(1810-1812)Cca>Aca	p.P604T	GHR_ENST00000357703.3_Missense_Mutation_p.P582T|GHR_ENST00000537449.1_Missense_Mutation_p.P417T	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	604					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)			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)	AGTACAGTCCCCACAGGGCCT	0.502																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1810-1812)Cca>Aca		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						95	86	89					5																	42719419		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.chr5:42719419C>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.1810C>A	5.37:g.42719419C>A	ENSP00000230882:p.Pro604Thr		Somatic				GHR_ENST00000537449.1_Missense_Mutation_p.P417T|GHR_ENST00000357703.3_Missense_Mutation_p.P582T	p.P604T	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	WXS	Illumina GAIIx	Phase_I	P10912	GHR_HUMAN			10	2000	+		Myeloproliferative disorder(839;0.00878)	604					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1810C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174793	0.57692	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.36699	1.24;1.24;1.24	5.88	5.01	0.66863	.	0.145914	0.64402	D	0.000007	T	0.70002	0.3174	H	0.94808	3.585	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.78984	-0.1988	10	0.56958	D	0.05	-9.7302	14.7608	0.69604	0.0:0.931:0.0:0.069	.	604	P10912	GHR_HUMAN	T	604;582;417	ENSP00000230882:P604T;ENSP00000350335:P582T;ENSP00000442206:P417T	ENSP00000230882:P604T	P	+	1	0	GHR	42755176	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.392000	0.59659	1.489000	0.48450	0.591000	0.81541	CCA		0.502	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		5	55	5	55	---	---	---	---	A	42719419	C	A	42719419	3	1	158	1	0	0	0	0	1	0	0	0	6371	623	22	1	1844	1	GHR	5	42719419	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10629126	42719419	138195841	102	7167										
BDP1	55814	broad.mit.edu	37	chr5	70754459	70754459	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agaatccagtagatcttcctCtactgtttcacagagaagaa	7	9	3	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.chr5:70754459C>A	ENST00000358731.4	+	2	529	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	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	89	Interaction with ZBTB43.|Ser-rich.				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)		AGATCTTCCTCTACTGTTTCA	0.363																																						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.(265-267)tCt>tAt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							146	144	144					5																	70754459		1908	4126	6034	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70754459C>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.266C>A	5.37:g.70754459C>A	ENSP00000351575:p.Ser89Tyr		Somatic				BDP1_ENST00000380675.2_5'UTR	p.S89Y	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	2	529	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	89			Interaction with ZBTB43.|Ser-rich.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.266C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024590	0.19433	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.24723	1.84	5.28	3.47	0.39725	.	0.797309	0.11722	N	0.535811	T	0.29620	0.0739	L	0.60455	1.87	0.18873	N	0.999989	B;P;P	0.47253	0.207;0.892;0.892	B;P;P	0.47251	0.155;0.518;0.542	T	0.19516	-1.0303	10	0.59425	D	0.04	.	4.5211	0.11959	0.1578:0.6056:0.1527:0.0839	.	89;89;89	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Y	89	ENSP00000351575:S89Y	ENSP00000351575:S89Y	S	+	2	0	BDP1	70790215	0.000000	0.05858	0.901000	0.35422	0.138000	0.21146	0.228000	0.17814	0.701000	0.31803	-0.291000	0.09656	TCT		0.363	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		7	147	7	147	---	---	---	---	A	70754459	C	A	70754459	3	1	158	1	0	0	0	0	1	0	0	0	1395	913	32	3	272	3	BDP1	5	70754459	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	28035040	70754459	110160801	103	7168										
ANKRD34B	340120	broad.mit.edu	37	chr5	79855162	79855162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtttcctcacaggggaacctGggtcccaggtatcatcattg	11	11	3	0	rs199640651		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.chr5:79855162G>T	ENST00000338682.3	-	5	1349	c.677C>A	c.(676-678)cCa>cAa	p.P226Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGGAACCTGGGTCCCAGGT	0.527																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(676-678)cCa>cAa		ankyrin repeat domain 34B							59	62	61					5																	79855162		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855162G>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.677C>A	5.37:g.79855162G>T	ENSP00000339802:p.Pro226Gln		Somatic					p.P226Q	NM_001004441.2	NP_001004441.2	WXS	Illumina GAIIx	Phase_I	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1349	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	226					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.677C>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	4.029	0.002940	0.07866	.	.	ENSG00000189127	ENST00000338682	T	0.22743	1.94	5.85	4.07	0.47477	.	0.082419	0.47455	D	0.000224	T	0.22666	0.0547	M	0.70275	2.135	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.18053	-1.0349	10	0.26408	T	0.33	-2.1422	9.8601	0.41109	0.0725:0.2636:0.6639:0.0	.	226	A5PLL1	AN34B_HUMAN	Q	226	ENSP00000339802:P226Q	ENSP00000339802:P226Q	P	-	2	0	ANKRD34B	79890918	0.224000	0.23674	0.004000	0.12327	0.094000	0.18550	2.037000	0.41174	0.808000	0.34231	0.655000	0.94253	CCA		0.527	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		6	60	6	60	---	---	---	---	T	79855162	G	T	79855162	3	4	158	1	0	0	0	0	1	0	0	0	663	1348	47	1	871	1	ANKRD34B	5	79855162	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	9100703	79855162	101060098	104	7169										
KDM3B	51780	broad.mit.edu	37	chr5	137722222	137722222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cactaccgccagctccacccCaaacacagtgaggatctcag	7	17	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.chr5:137722222C>A	ENST00000314358.5	+	7	1492	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	431					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						AGCTCCACCCCAAACACAGTG	0.572																																						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.(1291-1293)cCa>cAa		lysine (K)-specific demethylase 3B							66	74	71					5																	137722222		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.chr5:137722222C>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.1292C>A	5.37:g.137722222C>A	ENSP00000326563:p.Pro431Gln		Somatic				KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q	p.P431Q	NM_016604.3	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			7	1492	+			431					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1292C>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765572	0.69878	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.79554	-1.28;-0.83	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84866	0.5567	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.86361	0.1717	10	0.62326	D	0.03	-32.1514	19.3478	0.94372	0.0:1.0:0.0:0.0	.	87;431	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	431;221;87	ENSP00000326563:P431Q;ENSP00000378335:P87Q	ENSP00000326563:P431Q	P	+	2	0	KDM3B	137750121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.359000	0.66074	2.572000	0.86782	0.655000	0.94253	CCA		0.572	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		7	93	7	93	---	---	---	---	A	137722222	C	A	137722222	3	1	158	1	0	0	0	0	1	0	0	0	8127	594	21	1	1318	1	KDM3B	5	137722222	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	57867060	137722222	43193038	105	7170										
CCDC69	26112	broad.mit.edu	37	chr5	150565077	150565077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agctctccagctcctgctccCagaactggctggggctccca	10	17	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.chr5:150565077C>A	ENST00000355417.2	-	7	695	c.521G>T	c.(520-522)tGg>tTg	p.W174L	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	174										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTGCTCCCAGAACTGGCT	0.532																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(520-522)tGg>tTg		coiled-coil domain containing 69							149	143	145					5																	150565077		2203	4300	6503	SO:0001583	missense	26112							g.chr5:150565077C>A		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.521G>T	5.37:g.150565077C>A	ENSP00000347586:p.Trp174Leu		Somatic				CCDC69_ENST00000521308.1_5'UTR	p.W174L	NM_015621.2	NP_056436.2	WXS	Illumina GAIIx	Phase_I	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	695	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	174					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.521G>T	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648405	0.47258	.	.	ENSG00000198624	ENST00000355417	T	0.09538	2.97	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000017	T	0.15435	0.0372	N	0.17474	0.49	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.02437	-1.1159	10	0.02654	T	1	-14.8751	16.2781	0.82656	0.0:1.0:0.0:0.0	.	174	A6NI79	CCD69_HUMAN	L	174	ENSP00000347586:W174L	ENSP00000347586:W174L	W	-	2	0	CCDC69	150545270	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.751000	0.55165	2.433000	0.82419	0.462000	0.41574	TGG		0.532	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		6	154	6	154	---	---	---	---	A	150565077	C	A	150565077	3	1	158	1	0	0	0	0	1	0	0	0	2841	595	21	1	381	1	CCDC69	5	150565077	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12842855	150565077	30350183	106	7171										
LCP2	3937	broad.mit.edu	37	chr5	169697882	169697882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atagtctccatcatcctcccCatcctggtcatcattgggac	6	15	4	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.chr5:169697882C>A	ENST00000046794.5	-	7	979	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	122					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)		TCATCCTCCCCATCCTGGTCA	0.547																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(364-366)Ggg>Tgg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							62	74	70					5																	169697882		2117	4228	6345	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697882C>A		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.364G>T	5.37:g.169697882C>A	ENSP00000046794:p.Gly122Trp		Somatic					p.G122W	NM_005565.3	NP_005556.1	WXS	Illumina GAIIx	Phase_I	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	979	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	122					A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.364G>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024381	0.54683	.	.	ENSG00000043462	ENST00000046794	T	0.47177	0.85	5.4	3.63	0.41609	.	0.887861	0.09950	N	0.734746	T	0.56001	0.1956	L	0.54323	1.7	0.18873	N	0.999988	D	0.67145	0.996	P	0.56434	0.798	T	0.39035	-0.9633	9	.	.	.	-0.6741	8.5636	0.33525	0.0:0.8233:0.0:0.1767	.	122	Q13094	LCP2_HUMAN	W	122	ENSP00000046794:G122W	.	G	-	1	0	LCP2	169630460	0.001000	0.12720	0.001000	0.08648	0.757000	0.42996	1.166000	0.31834	0.761000	0.33130	0.655000	0.94253	GGG		0.547	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		4	38	4	38	---	---	---	---	A	169697882	C	A	169697882	3	1	158	1	0	0	0	0	1	0	0	0	8692	594	21	1	1297	1	LCP2	5	169697882	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	19132805	169697882	11217378	107	7172										
IRF4	3662	broad.mit.edu	37	chr6	397178	397178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgtcccggatcagccacaccCggaaatcccgtaccaatgtc	8	17	1	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.chr6:397178C>A	ENST00000380956.4	+	5	689	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	188					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)		CAGCCACACCCGGAAATCCCG	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.(562-564)cCg>cAg		interferon regulatory factor 4							110	114	113					6																	397178		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.chr6:397178C>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.563C>A	6.37:g.397178C>A	ENSP00000370343:p.Pro188Gln		Somatic				IRF4_ENST00000495137.1_3'UTR	p.P188Q	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	689	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	188					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.563C>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504432	0.44558	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97209	-4.29	5.52	5.52	0.82312	.	0.564094	0.17831	N	0.160559	D	0.96491	0.8855	L	0.46157	1.445	0.58432	D	0.99999	B;B;B;B	0.29955	0.022;0.023;0.263;0.008	B;B;P;B	0.50617	0.036;0.021;0.646;0.015	D	0.94542	0.7746	10	0.12766	T	0.61	-4.053	19.4533	0.94876	0.0:1.0:0.0:0.0	.	188;218;187;188	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	Q	188;217	ENSP00000370343:P188Q	ENSP00000370343:P188Q	P	+	2	0	IRF4	342178	1.000000	0.71417	0.311000	0.25182	0.325000	0.28411	6.392000	0.73213	2.604000	0.88044	0.555000	0.69702	CCG		0.562	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	163	6	163	---	---	---	---	A	397178	C	A	397178	3	1	158	1	0	0	0	0	1	0	0	0	7832	652	23	1	577	1	IRF4	6	397178	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		397178	170717889	108	7173										
TDP2	51567	broad.mit.edu	37	chr6	24667063	24667063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttcctccgccgcctccctccCgccctccaggcaactcccca	5	25	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.chr6:24667063C>A	ENST00000378198.4	-	1	198	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000537591.1_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.G40W			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	10					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GCCTCCCTCCCGCCCTCCAGG	0.667								Direct reversal of damage																														ENST00000378198.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(28-30)Ggg>Tgg	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							112	129	123					6																	24667063		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24667063C>A	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"TRAF and TNF receptor associated protein"	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.28G>T	6.37:g.24667063C>A	ENSP00000367440:p.Gly10Trp		Somatic				TDP2_ENST00000545995.1_Missense_Mutation_p.G40W	p.G10W			WXS	Illumina GAIIx	Phase_I	O95551	TYDP2_HUMAN			1	198	-			10					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.28G>T	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594878	0.46318	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.25250	1.88;1.81	2.91	-3.36	0.04913	.	2.222910	0.01914	N	0.040031	T	0.07954	0.0199	L	0.53249	1.67	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.15870	0.014;0.003	T	0.34850	-0.9812	10	0.72032	D	0.01	-11.0737	0.49	0.00562	0.4034:0.2166:0.1749:0.2051	.	40;10	O95551-2;O95551	.;TYDP2_HUMAN	W	10;40;10	ENSP00000367440:G10W;ENSP00000437637:G40W	ENSP00000367440:G10W	G	-	1	0	TDP2	24775042	0.020000	0.18652	0.000000	0.03702	0.043000	0.13939	-0.001000	0.12947	-0.504000	0.06577	0.644000	0.83932	GGG		0.667	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			5	217	5	217	---	---	---	---	A	24667063	C	A	24667063	3	1	158	1	0	0	0	0	1	0	0	0	15726	652	23	1	1088	1	TDP2	6	24667063	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	24269885	24667063	146448004	109	7174										
CCHCR1	54535	broad.mit.edu	37	chr6	31124678	31124678	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	attcttggcagagttgaaagGggccgagcttgaaagtggga	16	5	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.chr6:31124678G>T	ENST00000376266.5	-	3	182	c.60C>A	c.(58-60)ccC>ccA	p.P20P	CCHCR1_ENST00000451521.2_Intron|TCF19_ENST00000376255.4_5'Flank|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.P109P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	20				P -> A (in Ref. 7; BAA81890). {ECO:0000305}.	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						GAGTTGAAAGGGGCCGAGCTT	0.552																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(325-327)ccC>ccA		coiled-coil alpha-helical rod protein 1							61	71	67					6																	31124678		1509	2709	4218	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31124678G>T	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.60C>A	6.37:g.31124678G>T			Somatic				CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron	p.P109P	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			3	515	-			20		R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076).			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.327C>A	CCDS4695.1																																																																																				0.552	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		6	79	6	79	---	---	---	---	T	31124678	G	T	31124678	2	4	158	1	0	0	0	0	0	0	0	1	2877	1219	43	1		1	CCHCR1	6	31124678	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	6457615	31124678	139990389	110	7175										
SLC44A4	80736	broad.mit.edu	37	chr6	31833153	31833153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgagacacagaaattcttccCgtagatggcgatctgaggga	12	8	2	4	rs547352490	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.chr6:31833153C>A	ENST00000229729.6	-	17	1719	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000544672.1_Missense_Mutation_p.G491W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	567					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)	AAATTCTTCCCGTAGATGGCG	0.547																																						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.(1471-1473)Ggg>Tgg		solute carrier family 44, member 4	Choline(DB00122)						127	130	129					6																	31833153		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833153C>A	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.1699G>T	6.37:g.31833153C>A	ENSP00000229729:p.Gly567Trp		Somatic				SLC44A4_ENST00000229729.6_Missense_Mutation_p.G567W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	p.G491W	NM_001178045.1	NP_001171516.1	WXS	Illumina GAIIx	Phase_I	Q53GD3	CTL4_HUMAN			17	1767	-			567					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1471G>T	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698955	0.88830	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.49139	0.79;0.79;0.79	5.25	5.25	0.73442	.	0.114407	0.64402	D	0.000013	T	0.75729	0.3889	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82942	-0.0207	10	0.87932	D	0	-22.7152	17.7732	0.88499	0.0:1.0:0.0:0.0	.	567	Q53GD3	CTL4_HUMAN	W	567;525;491	ENSP00000229729:G567W;ENSP00000364712:G525W;ENSP00000444109:G491W	ENSP00000229729:G567W	G	-	1	0	SLC44A4	31941132	1.000000	0.71417	0.981000	0.43875	0.976000	0.68499	5.612000	0.67681	2.733000	0.93635	0.561000	0.74099	GGG		0.547	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			6	172	6	172	---	---	---	---	A	31833153	C	A	31833153	3	1	158	1	0	0	0	0	1	0	0	0	14638	652	23	1	453	1	SLC44A4	6	31833153	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	708475	31833153	139281914	111	7176										
SKIV2L	6499	broad.mit.edu	37	chr6	31929348	31929348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgtccacagctgtatccaccCcagaggccccagagcctcca	8	19	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.chr6:31929348C>A	ENST00000375394.2	+	9	927	c.814C>A	c.(814-816)Cca>Aca	p.P272T	NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T|NELFE_ENST00000444811.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	272					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						TGTATCCACCCCAGAGGCCCC	0.567																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(814-816)Cca>Aca		superkiller viralicidic activity 2-like (S. cerevisiae)							97	111	106					6																	31929348		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31929348C>A		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.814C>A	6.37:g.31929348C>A	ENSP00000364543:p.Pro272Thr		Somatic				SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T	p.P272T	NM_006929.4	NP_008860.4	WXS	Illumina GAIIx	Phase_I	Q15477	SKIV2_HUMAN			9	927	+			272					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.814C>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574654	0.28092	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.53423	0.62;0.62	4.82	3.0	0.34707	.	0.518774	0.19935	N	0.102773	T	0.14830	0.0358	L	0.29908	0.895	0.44447	D	0.997378	B	0.10296	0.003	B	0.11329	0.006	T	0.06844	-1.0804	10	0.15499	T	0.54	0.0071	9.1331	0.36857	0.0:0.7695:0.148:0.0825	.	272	Q15477	SKIV2_HUMAN	T	272;114;79	ENSP00000364543:P272T;ENSP00000442645:P79T	ENSP00000364543:P272T	P	+	1	0	SKIV2L	32037327	0.680000	0.27605	0.007000	0.13788	0.044000	0.14063	1.300000	0.33436	0.619000	0.30197	0.655000	0.94253	CCA		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			6	111	6	111	---	---	---	---	A	31929348	C	A	31929348	3	1	158	1	0	0	0	0	1	0	0	0	14359	623	22	1	848	1	SKIV2L	6	31929348	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	96195	31929348	139185719	112	7177										
CYP21A2	1589	broad.mit.edu	37	chr6	32007917	32007917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgcagtggacctcctgatcGgtggcactgagaccacagca	12	13	0	2	rs201552310		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.chr6:32007917G>T	ENST00000418967.2	+	7	1032	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	291			G -> D (in AH3; salt wasting form; less then 1% activity). {ECO:0000269|PubMed:20080860}.		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)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CCTCCTGATCGGTGGCACTGA	0.607																																					Melanoma(174;1669 1998 3915 34700 46447)	ENST00000418967.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11	GRCh37	CM031955|CM920231|CM990464	CYP21A2	M		c.(874-876)Ggt>Tgt		cytochrome P450, family 21, subfamily A, polypeptide 2							277	267	270					6																	32007917		1510	2709	4219	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.chr6:32007917G>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.874G>T	6.37:g.32007917G>T	ENSP00000408860:p.Gly292Cys		Somatic				CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	p.G292C	NM_000500.7	NP_000491.4	WXS	Illumina GAIIx	Phase_I	P08686	CP21A_HUMAN			7	1032	+			291		G -> D (in AH3; salt wasting form; less then 1% activity).			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.874G>T	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.084270	0.55861	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.80653	-1.4;-1.4	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000136	D	0.89787	0.6816	M	0.90145	3.09	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91550	0.5256	10	0.87932	D	0	.	14.0516	0.64739	0.0:0.0:1.0:0.0	.	262;292	Q5ST44;Q16874	.;.	C	292;262	ENSP00000408860:G292C;ENSP00000415043:G262C	ENSP00000408860:G292C	G	+	1	0	CYP21A2	32115896	1.000000	0.71417	0.257000	0.24404	0.269000	0.26545	5.993000	0.70616	2.463000	0.83235	0.556000	0.70494	GGT		0.607	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		7	329	7	329	---	---	---	---	T	32007917	G	T	32007917	3	4	158	1	0	0	0	0	1	0	0	0	4153	1116	39	1	2421	1	CYP21A2	6	32007917	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	78569	32007917	139107150	113	7178										
PEX6	5190	broad.mit.edu	37	chr6	42933787	42933787	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccctgctcactcaccttccCgcacattctcctcactttgg	4	19	4	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.chr6:42933787C>A	ENST00000304611.8	-	12	2426	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					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)			CTCACCTTCCCGCACATTCTC	0.577																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2356-2358)cGg>cTg		peroxisomal biogenesis factor 6							189	169	176					6																	42933787		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.chr6:42933787C>A	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.2357G>T	6.37:g.42933787C>A	ENSP00000303511:p.Arg786Leu		Somatic				PEX6_ENST00000244546.4_Intron	p.R786L	NM_000287.3	NP_000278.3	WXS	Illumina GAIIx	Phase_I	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)		12	2426	-			786					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2357G>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457709	0.96240	.	.	ENSG00000124587	ENST00000304611	D	0.94232	-3.38	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.051557	0.85682	D	0.000000	D	0.97742	0.9259	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98609	1.0662	10	0.87932	D	0	-20.7535	18.9872	0.92777	0.0:1.0:0.0:0.0	.	786	Q13608	PEX6_HUMAN	L	786	ENSP00000303511:R786L	ENSP00000303511:R786L	R	-	2	0	PEX6	43041765	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	7.761000	0.85260	2.564000	0.86499	0.563000	0.77884	CGG		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		7	186	7	186	---	---	---	---	A	42933787	C	A	42933787	3	1	158	1	0	0	0	0	1	0	0	0	11750	652	23	1	609	1	PEX6	6	42933787	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10925870	42933787	128181280	114	7179										
CUL9	23113	broad.mit.edu	37	chr6	43166474	43166474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgtgccgtgagggcagcccCggaggtgccgtgaggcccct	17	14	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.chr6:43166474C>A	ENST00000252050.4	+	12	3015	c.2931C>A	c.(2929-2931)ccC>ccA	p.P977P	CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	977					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						AGGGCAGCCCCGGAGGTGCCG	0.642																																						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.(2929-2931)ccC>ccA		cullin 9							77	82	81					6																	43166474		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.chr6:43166474C>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.2931C>A	6.37:g.43166474C>A			Somatic				CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	p.P977P	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			12	3015	+			977					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2931C>A	CCDS4890.1																																																																																				0.642	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		5	162	5	162	---	---	---	---	A	43166474	C	A	43166474	2	1	158	1	0	0	0	0	0	0	0	1	4061	639	23	1		1	CUL9	6	43166474	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	232687	43166474	127948593	115	7180										
CUL9	23113	broad.mit.edu	37	chr6	43174217	43174217	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccacagaattctgtgatgcCcttgaccgtttctccagttt	7	13	2	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.chr6:43174217C>A	ENST00000252050.4	+	26	5265	c.5181C>A	c.(5179-5181)gcC>gcA	p.A1727A	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000354495.3_Silent_p.A1617A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					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						TCTGTGATGCCCTTGACCGTT	0.542																																						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.(5179-5181)gcC>gcA		cullin 9							106	102	103					6																	43174217		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.chr6:43174217C>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.5181C>A	6.37:g.43174217C>A			Somatic				CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.A1617A	p.A1727A	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			26	5265	+			1727					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.5181C>A	CCDS4890.1																																																																																				0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		6	74	6	74	---	---	---	---	A	43174217	C	A	43174217	2	1	158	1	0	0	0	0	0	0	0	1	4061	610	22	1		1	CUL9	6	43174217	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7743	43174217	127940850	116	7181										
ZNF318	24149	broad.mit.edu	37	chr6	43316169	43316169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actgtcacttaaagacttctGggatttatcgaagatgttaa	8	6	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.chr6:43316169G>T	ENST00000361428.2	-	6	3042	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	989					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)	p.Q989K(1)		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)			AAAGACTTCTGGGATTTATCG	0.448																																						ENST00000361428.2																			1	Substitution - Missense(1)	p.Q989K(1)	lung(1)	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.(2965-2967)Cag>Aag		zinc finger protein 318							230	222	224					6																	43316169		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.chr6:43316169G>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.2965C>A	6.37:g.43316169G>T	ENSP00000354964:p.Gln989Lys		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	p.Q989K	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	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)		6	3042	-			989					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2965C>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771885	0.31320	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.28255	1.62;2.81	6.03	5.14	0.70334	.	0.276435	0.34411	N	0.003983	T	0.05410	0.0143	N	0.14661	0.345	0.23180	N	0.998163	P	0.36837	0.571	B	0.30855	0.121	T	0.30592	-0.9973	10	0.06494	T	0.89	-2.4148	15.3993	0.74827	0.0:0.3144:0.6856:0.0	.	989	Q5VUA4	ZN318_HUMAN	K	989	ENSP00000323032:Q989K;ENSP00000354964:Q989K	ENSP00000323032:Q989K	Q	-	1	0	ZNF318	43424147	0.866000	0.29940	0.844000	0.33320	0.764000	0.43329	1.535000	0.36061	1.450000	0.47717	0.655000	0.94253	CAG		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	248	7	248	---	---	---	---	T	43316169	G	T	43316169	3	4	158	1	0	0	0	0	1	0	0	0	17833	1357	47	1	3894	1	ZNF318	6	43316169	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	141952	43316169	127798898	117	7182										
TNFRSF21	27242	broad.mit.edu	37	chr6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggcttcctggctcttgactcCaataatttcgaatagccggt	9	11	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.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*		Somatic					p.G633*	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	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	45	120	---	---	---	---	A	47200572	C	A	47200572	4	1	158	1	0	0	0	0	0	1	0	0	16292	603	21	1	74	1	TNFRSF21	6	47200572	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3884403	47200572	123914495	118	7183										
UBE2CBP	90025	broad.mit.edu	37	chr6	83754301	83754301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaagtgatttattagcaaagGggtcaggatgacaacaccat	11	6	1	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.chr6:83754301G>T	ENST00000369747.3	-	4	565	c.443C>A	c.(442-444)cCc>cAc	p.P148H		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	148					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										ATTAGCAAAGGGGTCAGGATG	0.453																																						ENST00000369747.3																			0											c.(442-444)cCc>cAc		ubiquitin protein ligase E3D							139	155	149					6																	83754301		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83754301G>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.443C>A	6.37:g.83754301G>T	ENSP00000358762:p.Pro148His		Somatic					p.P148H	NM_198920.1	NP_944602.1	WXS	Illumina GAIIx	Phase_I	Q7Z6J8	UB2CB_HUMAN			4	565	-			148					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.443C>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095555	0.76870	.	.	ENSG00000118420	ENST00000369747	T	0.30981	1.51	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	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	0.38993	-0.9635	10	0.41790	T	0.15	-18.6363	19.6936	0.96012	0.0:0.0:1.0:0.0	.	148;148	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	H	148	ENSP00000358762:P148H	ENSP00000358762:P148H	P	-	2	0	UBE2CBP	83811020	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	7.382000	0.79729	2.665000	0.90641	0.655000	0.94253	CCC		0.453	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		8	257	8	257	---	---	---	---	T	83754301	G	T	83754301	3	4	158	1	0	0	0	0	1	0	0	0	16844	1232	43	1	754	1	UBE2CBP	6	83754301	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	36553729	83754301	87360766	119	7184										
CYB5R4	51167	broad.mit.edu	37	chr6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcactttttaggtttgtacTacagaaagtgccagttaatt	7	6	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.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)	ENST00000369681.5																			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		Somatic				CYB5R4_ENST00000479164.1_3'UTR	p.Y275H	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	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)				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	15	20	---	---	---	---	C	84644322	T	C	84644322	3	2	158	1	0	0	0	0	1	0	0	0	4129	1522	53	2	865	2	CYB5R4	6	84644322	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08	890021	84644322	86470745	120	7185										
NUS1	116150	broad.mit.edu	37	chr6	118015306	118015306	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcccagaagcaaaagagaccCacagatttggatgtagatac	10	9	0	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.chr6:118015306C>A	ENST00000368494.3	+	3	823	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	218					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAAAGAGACCCACAGATTTGG	0.368																																						ENST00000368494.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8						c.(652-654)ccC>ccA		nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)							102	104	103					6																	118015306		2203	4300	6503	SO:0001819	synonymous_variant	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118015306C>A	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)"	610463	"chromosome 6 open reading frame 68"	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.654C>A	6.37:g.118015306C>A			Somatic					p.P218P	NM_138459.3	NP_612468.1	WXS	Illumina GAIIx	Phase_I	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	3	823	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	218					B2RWQ4|O00251	Silent	SNP	ENST00000368494.3	37	c.654C>A	CCDS5118.1																																																																																				0.368	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1	NM_138459		5	102	5	102	---	---	---	---	A	118015306	C	A	118015306	2	1	158	1	0	0	0	0	0	0	0	1	10777	581	21	1		1	NUS1	6	118015306	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	33370984	118015306	53099761	121	7186										
HEY2	23493	broad.mit.edu	37	chr6	126080848	126080848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgcggccacagccatcagccCgcccttgtcagtatcagcca	9	18	3	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.chr6:126080848C>A	ENST00000368364.3	+	5	1111	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					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)		GCCATCAGCCCGCCCTTGTCA	0.597																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(913-915)cCg>cAg		hes-related family bHLH transcription factor with YRPW motif 2							62	72	68					6																	126080848		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.chr6:126080848C>A	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.914C>A	6.37:g.126080848C>A	ENSP00000357348:p.Pro305Gln		Somatic				HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	p.P305Q	NM_012259.2	NP_036391.1	WXS	Illumina GAIIx	Phase_I	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1111	+			305						Missense_Mutation	SNP	ENST00000368364.3	37	c.914C>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475587	0.63737	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59638	0.27;0.25	5.43	4.56	0.56223	.	0.393153	0.25427	N	0.030745	T	0.39384	0.1076	L	0.34521	1.04	0.40531	D	0.98093	P	0.46621	0.881	P	0.48524	0.58	T	0.20706	-1.0267	10	0.22706	T	0.39	-35.7157	14.0858	0.64954	0.0:0.9273:0.0:0.0727	.	305	Q9UBP5	HEY2_HUMAN	Q	259;305	ENSP00000357349:P259Q;ENSP00000357348:P305Q	ENSP00000357348:P305Q	P	+	2	0	HEY2	126122541	1.000000	0.71417	0.735000	0.30896	0.903000	0.53119	7.283000	0.78640	1.280000	0.44463	0.561000	0.74099	CCG		0.597	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			6	189	6	189	---	---	---	---	A	126080848	C	A	126080848	3	1	158	1	0	0	0	0	1	0	0	0	7079	652	23	1	932	1	HEY2	6	126080848	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	8065542	126080848	45034219	122	7187										
TAAR1	134864	broad.mit.edu	37	chr6	132966571	132966571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aagtcataaaggtcagtaccCcagatattttgctaaagaag	8	7	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.chr6:132966571C>A	ENST00000275216.1	-	1	571	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	191					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(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	GGTCAGTACCCCAGATATTTT	0.348																																						ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(571-573)gGg>gTg		trace amine associated receptor 1	Amphetamine(DB00182)						79	83	81					6																	132966571		2203	4300	6503	SO:0001583	missense	134864					plasma membrane		g.chr6:132966571C>A	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"GPCR / Class A : Trace amine associated receptors"	17734	protein-coding gene	gene with protein product		609333	"trace amine receptor 1"	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.572G>T	6.37:g.132966571C>A	ENSP00000275216:p.Gly191Val		Somatic					p.G191V	NM_138327.1	NP_612200.1	WXS	Illumina GAIIx	Phase_I	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	571	-	Breast(56;0.135)		191					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.572G>T	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912162	0.17907	.	.	ENSG00000146399	ENST00000275216	T	0.35236	1.32	5.78	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.227894	0.44902	D	0.000405	T	0.10508	0.0257	N	0.25825	0.765	0.38009	D	0.934487	P	0.38565	0.637	B	0.37989	0.262	T	0.06770	-1.0808	10	0.02654	T	1	-4.1965	16.2866	0.82724	0.0:0.7496:0.2504:0.0	.	191	Q96RJ0	TAAR1_HUMAN	V	191	ENSP00000275216:G191V	ENSP00000275216:G191V	G	-	2	0	TAAR1	133008264	0.248000	0.23930	0.012000	0.15200	0.306000	0.27790	1.863000	0.39459	0.744000	0.32741	0.555000	0.69702	GGG		0.348	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		6	114	6	114	---	---	---	---	A	132966571	C	A	132966571	3	1	158	1	0	0	0	0	1	0	0	0	15486	623	22	1	451	1	TAAR1	6	132966571	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6885723	132966571	38148496	123	7188										
TCF21	6943	broad.mit.edu	37	chr6	134212883	134212883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atggtggccgggaaacccgaGagtgacctgaaagaagtggt	16	7	0	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.chr6:134212883G>T	ENST00000367882.4	+	2	743	c.483G>T	c.(481-483)gaG>gaT	p.E161D	TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					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)		GGAAACCCGAGAGTGACCTGA	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.(481-483)gaG>gaT		transcription factor 21							48	49	49					6																	134212883		2203	4300	6503	SO:0001583	missense	6943				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.chr6:134212883G>T	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.483G>T	6.37:g.134212883G>T	ENSP00000356857:p.Glu161Asp		Somatic				TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607573.1_RNA	p.E161D	NM_003206.3	NP_003197.2	WXS	Illumina GAIIx	Phase_I	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	743	+	Colorectal(23;0.221)|Breast(56;0.247)		161					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.483G>T	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	G	4.569	0.105646	0.08780	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96522	-4.04;-4.04	5.63	2.88	0.33553	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	N	0.21373	0.66	0.47308	D	0.999389	B	0.02656	0.0	B	0.01281	0.0	T	0.73773	-0.3877	10	0.10111	T	0.7	-10.8018	8.0489	0.30566	0.1582:0.1237:0.7181:0.0	.	161	O43680	TCF21_HUMAN	D	161	ENSP00000356857:E161D;ENSP00000237316:E161D	ENSP00000237316:E161D	E	+	3	2	TCF21	134254576	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.106000	0.31098	0.327000	0.23409	0.650000	0.86243	GAG		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		4	39	4	39	---	---	---	---	T	134212883	G	T	134212883	3	4	158	1	0	0	0	0	1	0	0	0	15688	933	33	3	489	3	TCF21	6	134212883	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1246312	134212883	36902184	124	7189										
GRM1	2911	broad.mit.edu	37	chr6	146755622	146755622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggggaggagctggtctcccCgcccgcggacgacgacgacg	17	14	1	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.chr6:146755622C>A	ENST00000282753.1	+	8	3510	c.3275C>A	c.(3274-3276)cCg>cAg	p.P1092Q	GRM1_ENST00000361719.2_Missense_Mutation_p.P1092Q|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1092					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)		CTGGTCTCCCCGCCCGCGGAC	0.652																																						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.(3274-3276)cCg>cAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						65	71	69					6																	146755622		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755622C>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.3275C>A	6.37:g.146755622C>A	ENSP00000282753:p.Pro1092Gln		Somatic				GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1092Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	p.P1092Q	NM_001278064.1	NP_001264993.1	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3745	+		Ovarian(120;0.0387)	1092					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3275C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458914	0.63401	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90197	-2.63;-2.63	5.71	5.71	0.89125	.	0.049415	0.85682	D	0.000000	D	0.86146	0.5863	L	0.50333	1.59	0.80722	D	1	P	0.43431	0.807	B	0.42882	0.401	D	0.88575	0.3132	10	0.87932	D	0	.	14.0568	0.64774	0.0:0.9279:0.0:0.0721	.	1092	Q13255	GRM1_HUMAN	Q	1092	ENSP00000354896:P1092Q;ENSP00000282753:P1092Q	ENSP00000282753:P1092Q	P	+	2	0	GRM1	146797315	1.000000	0.71417	0.176000	0.23000	0.506000	0.33950	5.578000	0.67450	2.700000	0.92200	0.462000	0.41574	CCG		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	128	5	128	---	---	---	---	A	146755622	C	A	146755622	3	1	158	1	0	0	0	0	1	0	0	0	6796	652	23	1	3370	1	GRM1	6	146755622	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12542739	146755622	24359445	125	7190										
EZR	7430	broad.mit.edu	37	chr6	159190925	159190925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctcggcctcctcctgtgccCgcttcctctcctcctccagc	7	22	1	0	rs142824813	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.chr6:159190925C>A	ENST00000367075.3	-	11	1310	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	381	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTCCTGTGCCCGCTTCCTCTC	0.612			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1141-1143)cGg>cTg		ezrin							76	80	79					6																	159190925		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159190925C>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1142G>T	6.37:g.159190925C>A	ENSP00000356042:p.Arg381Leu		Somatic				EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	p.R381L	NM_001111077.1	NP_001104547.1	WXS	Illumina GAIIx	Phase_I	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	11	1310	-		Breast(66;0.000776)|Ovarian(120;0.0303)	381			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.1142G>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145392	0.21288	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83163	-1.69;-1.69;-1.69	5.45	4.57	0.56435	Ezrin/radixin/moesin, C-terminal (1);	0.211332	0.41605	D	0.000848	T	0.68641	0.3023	L	0.49455	1.56	0.49582	D	0.999807	B;B	0.14805	0.011;0.001	B;B	0.19391	0.025;0.002	T	0.65792	-0.6082	10	0.24483	T	0.36	.	15.5661	0.76294	0.139:0.861:0.0:0.0	.	349;381	E7EQR4;P15311	.;EZRI_HUMAN	L	381;381;349	ENSP00000338934:R381L;ENSP00000356042:R381L;ENSP00000376016:R349L	ENSP00000338934:R381L	R	-	2	0	EZR	159110913	0.995000	0.38212	0.982000	0.44146	0.020000	0.10135	3.172000	0.50832	1.292000	0.44672	-0.314000	0.08810	CGG		0.612	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		4	128	4	128	---	---	---	---	A	159190925	C	A	159190925	3	1	158	1	0	0	0	0	1	0	0	0	5335	652	23	1	634	1	EZR	6	159190925	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12435303	159190925	11924142	126	7191										
PDE10A	10846	broad.mit.edu	37	chr6	165895804	165895804	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taatattcacatcacttaccCtgctgacttccttaggagct	5	12	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.chr6:165895804C>A	ENST00000366882.1	-	4	348	c.194G>T	c.(193-195)aGg>aTg	p.R65M	PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	65					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)	ATCACTTACCCTGCTGACTTC	0.348																																					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.(193-195)aGg>aTg		phosphodiesterase 10A	Dipyridamole(DB00975)						142	152	149					6																	165895804		2203	4300	6503	SO:0001630	splice_region_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.chr6:165895804C>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.195+1G>T	6.37:g.165895804C>A			Somatic				PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M	p.R65M			WXS	Illumina GAIIx	Phase_I	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)	4	348	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	65					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	ENST00000366882.1	37	c.194G>T		.	.	.	.	.	.	.	.	.	.	C	13.26	2.185465	0.38609	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.72282	-0.64;-0.64	3.45	3.45	0.39498	.	0.318400	0.35179	N	0.003390	T	0.45337	0.1337	L	0.40543	1.245	0.39695	D	0.971097	B;P	0.34780	0.119;0.468	B;B	0.29942	0.076;0.109	T	0.58323	-0.7656	10	0.59425	D	0.04	.	10.7012	0.45928	0.0:1.0:0.0:0.0	.	75;65	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	65;93;75;65;64	ENSP00000355847:R65M;ENSP00000346435:R65M	ENSP00000341187:R75M	R	-	2	0	PDE10A	165815794	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.180000	0.50895	2.235000	0.73313	0.563000	0.77884	AGG		0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Missense_Mutation	6	145	6	145	---	---	---	---	A	165895804	C	A	165895804	5	1	158	1	0	0	0	0	0	0	1	0	11630	695	24	1	2225	1	PDE10A	6	165895804	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6704879	165895804	5219263	127	7192										
GNA12	2768	broad.mit.edu	37	chr7	2771007	2771007	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccagcctgtgcgggtcgccCctgaagtccgggaagtgctt	14	13	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.chr7:2771007C>A	ENST00000275364.3	-	4	1116	c.954G>T	c.(952-954)agG>agT	p.R318S	AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S|GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	318					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|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)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCGGGTCGCCCCTGAAGTCCG	0.567																																						ENST00000275364.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(952-954)agG>agT		guanine nucleotide binding protein (G protein) alpha 12							108	90	96					7																	2771007		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771007C>A	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.954G>T	7.37:g.2771007C>A	ENSP00000275364:p.Arg318Ser		Somatic				GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S	p.R318S	NM_007353.2	NP_031379.2	WXS	Illumina GAIIx	Phase_I	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	1116	-		Ovarian(82;0.0112)	318					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.954G>T	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	2.205	-0.382027	0.04966	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	6.17	2.14	0.27477	.	0.260214	0.42964	D	0.000630	T	0.67515	0.2901	N	0.02539	-0.55	0.36646	D	0.877112	B;B;B	0.15141	0.012;0.001;0.012	B;B;B	0.24701	0.055;0.007;0.055	T	0.57353	-0.7826	10	0.23302	T	0.38	.	8.0214	0.30412	0.0:0.6875:0.1126:0.2	.	318;318;259	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	S	318;259;242;170;225	ENSP00000275364:R318S;ENSP00000385935:R259S;ENSP00000386054:R242S;ENSP00000380160:R170S;ENSP00000437469:R225S	ENSP00000275364:R318S	R	-	3	2	GNA12	2737533	0.003000	0.15002	0.183000	0.23137	0.467000	0.32768	0.075000	0.14686	0.400000	0.25396	-0.345000	0.07892	AGG		0.567	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		6	76	6	76	---	---	---	---	A	2771007	C	A	2771007	3	1	158	1	0	0	0	0	1	0	0	0	6500	622	22	1	195	1	GNA12	7	2771007	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		2771007	156367656	128	7193										
EIF2AK1	27102	broad.mit.edu	37	chr7	6080676	6080676	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccattttcctggagctccagGgtcgactcaagttcaccaga	9	13	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.chr7:6080676G>T	ENST00000199389.6	-	9	1112	c.966C>A	c.(964-966)acC>acA	p.T322T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGCTCCAGGGTCGACTCAA	0.458																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(964-966)acC>acA		eukaryotic translation initiation factor 2-alpha kinase 1							156	155	156					7																	6080676		2203	4300	6503	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6080676G>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.966C>A	7.37:g.6080676G>T			Somatic				EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	p.T322T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	WXS	Illumina GAIIx	Phase_I	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	9	1112	-		Ovarian(82;0.0423)	322			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.966C>A	CCDS5345.1																																																																																				0.458	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		8	178	8	178	---	---	---	---	T	6080676	G	T	6080676	2	4	158	1	0	0	0	0	0	0	0	1	4996	1219	43	1		1	EIF2AK1	7	6080676	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	3309669	6080676	153057987	129	7194										
HDAC9	9734	broad.mit.edu	37	chr7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggctctagaaggaggacatGatctcacagccatctgtgat	11	9	3	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.chr7:18975506G>T	ENST00000432645.2	+	22	2869	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.D957Y	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																																						ENST00000406451.4																			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		Somatic				HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	p.D957Y	NM_178423.1	NP_848510.1	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			23	3019	+	all_lung(11;0.187)					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	18	220	---	---	---	---	T	18975506	G	T	18975506	3	4	158	1	0	0	0	0	1	0	0	0	7014	1290	45	3	3077	3	HDAC9	7	18975506	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	12894830	18975506	140163157	130	7195										
PCLO	27445	broad.mit.edu	37	chr7	82764231	82764231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agcggtaggtcgtgggccagGgggtgttggtgacccttttg	19	7	0	1	rs184031015		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.chr7:82764231G>T	ENST00000333891.9	-	3	2972	c.2635C>A	c.(2635-2637)Cct>Act	p.P879T	PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	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						CGTGGGCCAGGGGGTGTTGGT	0.522																																						ENST00000333891.9																			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.(2635-2637)Cct>Act		piccolo presynaptic cytomatrix protein							203	204	204					7																	82764231		1989	4164	6153	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.chr7:82764231G>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.2635C>A	7.37:g.82764231G>T	ENSP00000334319:p.Pro879Thr		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	p.P879T	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			3	2972	-						Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2635C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	6.509	0.462083	0.12342	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15834	2.39;2.4	5.93	-1.75	0.08031	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.33343	-0.9872	9	0.87932	D	0	.	1.8476	0.03162	0.323:0.3625:0.1519:0.1626	.	879;879	Q9Y6V0-5;Q9Y6V0-6	.;.	T	825;879;879	ENSP00000334319:P879T;ENSP00000388393:P879T	ENSP00000334319:P879T	P	-	1	0	PCLO	82602167	0.000000	0.05858	0.000000	0.03702	0.946000	0.59487	-0.255000	0.08769	-0.290000	0.09025	0.561000	0.74099	CCT		0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	371	9	371	---	---	---	---	T	82764231	G	T	82764231	3	4	158	1	0	0	0	0	1	0	0	0	11583	1232	43	1	12902	1	PCLO	7	82764231	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	63788725	82764231	76374432	131	7196										
KRIT1	889	broad.mit.edu	37	chr7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgattcagtagcatatgcagGatttatgacattagttttta	8	4	1	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.chr7:91864869G>A	ENST00000340022.2	-	8	1595	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000394507.1_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_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		Somatic				KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	p.P193S	NM_194456.1	NP_919438.1	WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	A	91864869	G	A	91864869	3	1	158	1	0	0	0	0	1	0	0	0	8445	1174	41	2	1681	2	KRIT1	7	91864869	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	9100638	91864869	67273794	132	7197										
COL1A2	1278	broad.mit.edu	37	chr7	94037158	94037158	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actcaatccttctccatgtaGggtgaacctggtgcccctgg	10	13	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.chr7:94037158G>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)	Somatic						NM_000089.3	NP_000080.2	WXS	Illumina GAIIx	Phase_I	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	5	27	---	---	---	---	A	94037158	G	A	94037158	5	1	158	1	0	0	0	0	0	0	1	0	3678	1014	35	2	644	2	COL1A2	7	94037158	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2172289	94037158	65101505	133	7198										
MCM7	4176	broad.mit.edu	37	chr7	99691010	99691010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctttctccaccacatccacCattctcagacgtgcctaagg	5	16	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.chr7:99691010C>A	ENST00000303887.5	-	14	2508	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	621	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)					CCACATCCACCATTCTCAGAC	0.537																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1861-1863)atG>atT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						171	171	171					7																	99691010		2203	4300	6503	SO:0001583	missense	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.chr7:99691010C>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.1863G>T	7.37:g.99691010C>A	ENSP00000307288:p.Met621Ile		Somatic				MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MCM7_ENST00000343023.6_Intron	p.M621I	NM_005916.3	NP_005907.3	WXS	Illumina GAIIx	Phase_I	P33993	MCM7_HUMAN			14	2508	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		621			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1863G>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	c	18.01	3.527021	0.64860	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.05925	3.37;3.37	5.34	5.34	0.76211	.	0.044639	0.85682	D	0.000000	T	0.07369	0.0186	L	0.28694	0.88	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.21042	-1.0257	10	0.66056	D	0.02	-15.4454	16.5889	0.84759	0.0:1.0:0.0:0.0	.	621	P33993	MCM7_HUMAN	I	621;558;514;445	ENSP00000307288:M621I;ENSP00000346171:M445I	ENSP00000307288:M621I	M	-	3	0	MCM7	99528946	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.307000	0.59123	2.786000	0.95864	0.586000	0.80456	ATG		0.537	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			6	175	6	175	---	---	---	---	A	99691010	C	A	99691010	3	1	158	1	0	0	0	0	1	0	0	0	9392	594	21	1	304	1	MCM7	7	99691010	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5653852	99691010	59447653	134	7199										
MUC17	140453	broad.mit.edu	37	chr7	100683342	100683342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgtcagcaccacgccggtggCcagttctgaggctagcaccc	12	15	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.chr7:100683342C>A	ENST00000306151.4	+	3	8709	c.8645C>A	c.(8644-8646)gCc>gAc	p.A2882D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2882	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)					ACGCCGGTGGCCAGTTCTGAG	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.(8644-8646)gCc>gAc		mucin 17, cell surface associated							263	273	269					7																	100683342		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683342C>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.8645C>A	7.37:g.100683342C>A	ENSP00000302716:p.Ala2882Asp		Somatic					p.A2882D	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8709	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2882			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8645C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.698	-0.791877	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	0.478	-0.796	0.10912	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.49495	-0.8934	8	0.29301	T	0.29	.	.	.	.	.	2882	Q685J3	MUC17_HUMAN	D	2882	ENSP00000302716:A2882D	ENSP00000302716:A2882D	A	+	2	0	MUC17	100470062	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.820000	0.27323	-0.328000	0.08539	0.134000	0.15878	GCC		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	463	10	463	---	---	---	---	A	100683342	C	A	100683342	3	1	158	1	0	0	0	0	1	0	0	0	9974	739	26	3	8655	3	MUC17	7	100683342	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	992332	100683342	58455321	135	7200										
GCC1	79571	broad.mit.edu	37	chr7	127225212	127225212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttcttgctcgggccgccccCgaaattcatcccaaacttct	6	17	3	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.chr7:127225212C>A	ENST00000321407.2	-	1	449	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	9					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						GGGCCGCCCCCGAAATTCATC	0.592											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										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.(25-27)Ggg>Tgg		GRIP and coiled-coil domain containing 1							58	65	63					7																	127225212		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127225212C>A	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.25G>T	7.37:g.127225212C>A	ENSP00000318821:p.Gly9Trp		Somatic	OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1555	GCC1_ENST00000497650.1_Intron	p.G9W	NM_024523.5	NP_078799.2	WXS	Illumina GAIIx	Phase_I	Q96CN9	GCC1_HUMAN			1	449	-			9					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.25G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496977	0.85069	.	.	ENSG00000179562	ENST00000321407	T	0.36699	1.24	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60362	-0.7278	10	0.87932	D	0	-37.7454	17.2701	0.87098	0.0:1.0:0.0:0.0	.	9	Q96CN9	GCC1_HUMAN	W	9	ENSP00000318821:G9W	ENSP00000318821:G9W	G	-	1	0	GCC1	127012448	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.302000	0.78861	2.687000	0.91594	0.563000	0.77884	GGG		0.592	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		4	100	4	100	---	---	---	---	A	127225212	C	A	127225212	3	1	158	1	0	0	0	0	1	0	0	0	6285	652	23	1	2310	1	GCC1	7	127225212	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	26541870	127225212	31913451	136	7201										
LRGUK	136332	broad.mit.edu	37	chr7	133812132	133812132	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctaaacaagatggcgacctcCgagagggctctcctgaggac	12	12	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.chr7:133812132C>A	ENST00000285928.2	+	1	81	c.12C>A	c.(10-12)tcC>tcA	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S4S(1)		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						TGGCGACCTCCGAGAGGGCTC	0.612																																						ENST00000285928.2																			1	Substitution - coding silent(1)	p.S4S(1)	lung(1)	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.(10-12)tcC>tcA		leucine-rich repeats and guanylate kinase domain containing							79	86	84					7																	133812132		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133812132C>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.12C>A	7.37:g.133812132C>A			Somatic				LRGUK_ENST00000473068.1_3'UTR	p.S4S	NM_144648.1	NP_653249.1	WXS	Illumina GAIIx	Phase_I	Q96M69	LRGUK_HUMAN			1	81	+			4					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.12C>A	CCDS5830.1																																																																																				0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		5	140	5	140	---	---	---	---	A	133812132	C	A	133812132	2	1	158	1	0	0	0	0	0	0	0	1	8943	639	23	1		1	LRGUK	7	133812132	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6586920	133812132	25326531	137	7202										
OR2A12	346525	broad.mit.edu	37	chr7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcaagaacggaggaagatcCtttccctgttttacagcctt	8	11	1	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.chr7:143793017C>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		Somatic					p.L273F	NM_001004135.1	NP_001004135.1	WXS	Illumina GAIIx	Phase_I	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	80	216	---	---	---	---	T	143793017	C	T	143793017	3	4	158	1	0	0	0	0	1	0	0	0	10975	681	24	2	819	2	OR2A12	7	143793017	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9980885	143793017	15345646	138	7203										
TMEM176A	55365	broad.mit.edu	37	chr7	150500857	150500857	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gactggaacactccagccccCactcagagtccagaagaagt	9	14	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.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164					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)		CTCCAGCCCCCACTCAGAGTC	0.537																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(490-492)ccC>ccA		transmembrane protein 176A							61	61	61					7																	150500857		2203	4300	6503	SO:0001819	synonymous_variant	55365					integral to membrane		g.chr7:150500857C>A	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.492C>A	7.37:g.150500857C>A			Somatic				TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P	p.P164P			WXS	Illumina GAIIx	Phase_I	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1073	+			164					D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	c.492C>A	CCDS5909.1																																																																																				0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		5	87	5	87	---	---	---	---	A	150500857	C	A	150500857	2	1	158	1	0	0	0	0	0	0	0	1	16089	581	21	1		1	TMEM176A	7	150500857	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6707840	150500857	8637806	139	7204										
TMUB1	83590	broad.mit.edu	37	chr7	150779390	150779390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggcggtgttgctgtgaacccCgtgctgggctctggctgtgc	17	11	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.chr7:150779390C>A	ENST00000392818.3	-	2	618	c.261G>T	c.(259-261)acG>acT	p.T87T	TMUB1_ENST00000297533.4_Silent_p.T87T|TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000476627.1_Silent_p.T87T|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000353841.2_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	87						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAACCCCGTGCTGGGCT	0.657																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(259-261)acG>acT		transmembrane and ubiquitin-like domain containing 1							86	106	99					7																	150779390		2203	4300	6503	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779390C>A	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"chromosome 7 open reading frame 21"	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.261G>T	7.37:g.150779390C>A			Somatic				TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000476627.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|TMUB1_ENST00000297533.4_Silent_p.T87T	p.T87T	NM_031434.3	NP_113622.1	WXS	Illumina GAIIx	Phase_I	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	618	-			87					D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.261G>T	CCDS5920.1																																																																																				0.657	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		6	214	6	214	---	---	---	---	A	150779390	C	A	150779390	2	1	158	1	0	0	0	0	0	0	0	1	16261	639	23	1		1	TMUB1	7	150779390	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	278533	150779390	8359273	140	7205										
MFHAS1	9258	broad.mit.edu	37	chr8	8748567	8748567	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggtggctggaaatgcagttCctccagcacctgccaggatc	12	12	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.chr8:8748567C>A	ENST00000276282.6	-	1	2588	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	668										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)		AAATGCAGTTCCTCCAGCACC	0.612																																					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.(2002-2004)Gaa>Taa		malignant fibrous histiocytoma amplified sequence 1							60	49	53					8																	8748567		2203	4300	6503	SO:0001587	stop_gained	9258							g.chr8:8748567C>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.2002G>T	8.37:g.8748567C>A	ENSP00000276282:p.Glu668*		Somatic					p.E668*	NM_004225.2	NP_004216.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2588	-		Hepatocellular(245;0.217)	668					Q96CI0	Nonsense_Mutation	SNP	ENST00000276282.6	37	c.2002G>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	45	11.981448	0.99623	.	.	ENSG00000147324	ENST00000276282	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.5011	0.87732	0.0:1.0:0.0:0.0	.	.	.	.	X	668	.	ENSP00000276282:E668X	E	-	1	0	MFHAS1	8785977	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.784000	0.68990	2.596000	0.87737	0.655000	0.94253	GAA		0.612	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		4	17	4	17	---	---	---	---	A	8748567	C	A	8748567	4	1	158	1	0	0	0	0	0	1	0	0	9521	864	30	3	1168	3	MFHAS1	8	8748567	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		8748567	137615455	141	7206										
SORBS3	10174	broad.mit.edu	37	chr8	22423994	22423994	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttgtctacccttcctcaaccCgaggtaaggacccagccctg	8	16	2	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.chr8:22423994C>A	ENST00000240123.7	+	13	1470	c.1087C>A	c.(1087-1089)Cga>Aga	p.R363R	SORBS3_ENST00000428103.1_Silent_p.R21R|SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	363					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)		TTCCTCAACCCGAGGTAAGGA	0.612																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1087-1089)Cga>Aga		sorbin and SH3 domain containing 3							82	79	80					8																	22423994		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.chr8:22423994C>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.1087C>A	8.37:g.22423994C>A			Somatic				SORBS3_ENST00000428103.1_Silent_p.R21R|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	p.R363R	NM_005775.4	NP_005766.3	WXS	Illumina GAIIx	Phase_I	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	13	1470	+		Prostate(55;0.0421)|Breast(100;0.102)	363					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.1087C>A	CCDS6031.1																																																																																				0.612	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		5	56	5	56	---	---	---	---	A	22423994	C	A	22423994	2	1	158	1	0	0	0	0	0	0	0	1	14929	644	23	1		1	SORBS3	8	22423994	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	13675427	22423994	123940028	142	7207										
ELP3	55140	broad.mit.edu	37	chr8	27957465	27957465	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccaagttaaaggcgaaaccCatcagaactgctagtggggt	11	10	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.chr8:27957465C>A	ENST00000256398.8	+	3	617	c.240C>A	c.(238-240)ccC>ccA	p.P80P	ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000542181.1_Intron|ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000524103.1_Silent_p.P8P	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	80					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)		AGGCGAAACCCATCAGAACTG	0.542																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(238-240)ccC>ccA		elongator acetyltransferase complex subunit 3							135	110	119					8																	27957465		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.chr8:27957465C>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.240C>A	8.37:g.27957465C>A			Somatic				ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Silent_p.P8P|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron	p.P80P	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	WXS	Illumina GAIIx	Phase_I	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)	3	617	+		Ovarian(32;0.0218)	80					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.240C>A	CCDS6065.1																																																																																				0.542	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		5	80	5	80	---	---	---	---	A	27957465	C	A	27957465	2	1	158	1	0	0	0	0	0	0	0	1	5081	581	21	1		1	ELP3	8	27957465	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5533471	27957465	118406557	143	7208										
DUSP4	1846	broad.mit.edu	37	chr8	29207773	29207773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcacactgcagtccatctccCgcagctcctccatcgtcacc	6	20	2	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.chr8:29207773C>A	ENST00000240100.2	-	1	412	c.23G>T	c.(22-24)cGg>cTg	p.R8L	RP4-676L2.1_ENST00000567818.1_RNA|DUSP4_ENST00000240101.2_5'Flank	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	8					endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|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)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|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)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCATCTCCCGCAGCTCCTC	0.701																																						ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(22-24)cGg>cTg		dual specificity phosphatase 4							20	23	22					8																	29207773		2168	4205	6373	SO:0001583	missense	1846				endoderm formation|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29207773C>A	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3070	protein-coding gene	gene with protein product	"VH1 homologous phosphatase 2", "MAP kinase phosphatase 2"	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.23G>T	8.37:g.29207773C>A	ENSP00000240100:p.Arg8Leu		Somatic					p.R8L	NM_001394.6	NP_001385.1	WXS	Illumina GAIIx	Phase_I	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	1	412	-			8					B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.23G>T	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339358	0.60963	.	.	ENSG00000120875	ENST00000240100	T	0.41065	1.01	3.77	2.89	0.33648	Rhodanese-like (2);	0.213462	0.41097	D	0.000958	T	0.20780	0.0500	N	0.08118	0	0.80722	D	1	B	0.24426	0.103	B	0.18561	0.022	T	0.05146	-1.0903	10	0.36615	T	0.2	.	9.3842	0.38333	0.0:0.8912:0.0:0.1088	.	8	Q13115	DUS4_HUMAN	L	8	ENSP00000240100:R8L	ENSP00000240100:R8L	R	-	2	0	DUSP4	29263692	0.866000	0.29940	1.000000	0.80357	0.997000	0.91878	1.199000	0.32235	1.164000	0.42652	0.491000	0.48974	CGG		0.701	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		4	63	4	63	---	---	---	---	A	29207773	C	A	29207773	3	1	158	1	0	0	0	0	1	0	0	0	4827	652	23	1	1341	1	DUSP4	8	29207773	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1250308	29207773	117156249	144	7209										
GPR124	25960	broad.mit.edu	37	chr8	37690631	37690631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccccgggcacccgagcctccCgccggtgtgaccgtgccggc	14	20	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.chr8:37690631C>A	ENST00000412232.2	+	9	1214	c.1201C>A	c.(1201-1203)Cgc>Agc	p.R401S	GPR124_ENST00000315215.7_Missense_Mutation_p.R401S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	401					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)			CCGAGCCTCCCGCCGGTGTGA	0.672																																						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.(1201-1203)Cgc>Agc		G protein-coupled receptor 124							40	46	44					8																	37690631		2201	4299	6500	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.chr8:37690631C>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.1201C>A	8.37:g.37690631C>A	ENSP00000406367:p.Arg401Ser		Somatic				GPR124_ENST00000412232.2_Missense_Mutation_p.R401S	p.R401S			WXS	Illumina GAIIx	Phase_I	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		9	1564	+			401					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1201C>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249103	0.80024	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.69806	-0.43;-0.43	5.11	5.11	0.69529	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.64402	D	0.000001	T	0.79713	0.4493	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.81482	-0.0913	10	0.66056	D	0.02	-31.8014	14.1813	0.65577	0.2198:0.7802:0.0:0.0	.	401;401	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	394;401;401	ENSP00000323508:R401S;ENSP00000406367:R401S	ENSP00000323508:R401S	R	+	1	0	GPR124	37809789	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	3.121000	0.50438	2.374000	0.81015	0.655000	0.94253	CGC		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	69	5	69	---	---	---	---	A	37690631	C	A	37690631	3	1	158	1	0	0	0	0	1	0	0	0	6638	652	23	1	1214	1	GPR124	8	37690631	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	8482858	37690631	108673391	145	7210										
ZFHX4	79776	broad.mit.edu	37	chr8	77766823	77766823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gacaactgctgggcagttccCtcactcaaatgccccctcag	8	16	3	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.chr8:77766823C>A	ENST00000521891.2	+	10	8114	c.7666C>A	c.(7666-7668)Ctc>Atc	p.L2556I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2511					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)			GGGCAGTTCCCTCACTCAAAT	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.(7666-7668)Ctc>Atc		zinc finger homeobox 4							87	86	87					8																	77766823		1952	4139	6091	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766823C>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.7666C>A	8.37:g.77766823C>A	ENSP00000430497:p.Leu2556Ile	HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I	p.L2556I	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8114	+			2511					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7666C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.139943	0.06669	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.68;0.67	5.38	4.43	0.53597	.	0.000000	0.35646	U	0.003066	T	0.35422	0.0931	L	0.43152	1.355	0.45718	D	0.998625	B;B;B	0.31790	0.23;0.34;0.232	B;B;B	0.33846	0.082;0.171;0.113	T	0.07214	-1.0784	10	0.17369	T	0.5	.	7.4819	0.27411	0.0:0.7085:0.1605:0.131	.	2511;2511;2556	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2556;2540;2511;2511;2530	ENSP00000430497:L2556I;ENSP00000399605:L2511I;ENSP00000050961:L2511I;ENSP00000430848:L2530I	ENSP00000050961:L2511I	L	+	1	0	ZFHX4	77929378	0.998000	0.40836	0.870000	0.34147	0.053000	0.15095	3.100000	0.50275	2.791000	0.96007	0.650000	0.86243	CTC		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	96	5	96	---	---	---	---	A	77766823	C	A	77766823	3	1	158	1	0	0	0	0	1	0	0	0	17632	681	24	1	7700	1	ZFHX4	8	77766823	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	40076192	77766823	68597199	146	7211										
DECR1	1666	broad.mit.edu	37	chr8	91029480	91029480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaagtggcattcattactggGggaggtactggccttggtaa	14	6	1	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.chr8:91029480G>T	ENST00000220764.2	+	2	286	c.198G>T	c.(196-198)ggG>ggT	p.G66G	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_Silent_p.G57G	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	66					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATTACTGGGGGAGGTACTG	0.443																																						ENST00000522161.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(169-171)ggG>ggT		2,4-dienoyl CoA reductase 1, mitochondrial							97	101	99					8																	91029480		2203	4300	6503	SO:0001819	synonymous_variant	1666				fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	g.chr8:91029480G>T	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.198G>T	8.37:g.91029480G>T			Somatic				DECR1_ENST00000220764.2_Silent_p.G66G|DECR1_ENST00000519007.1_3'UTR	p.G57G			WXS	Illumina GAIIx	Phase_I	Q16698	DECR_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		4	854	+			66					B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	c.171G>T	CCDS6250.1																																																																																				0.443	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			6	135	6	135	---	---	---	---	T	91029480	G	T	91029480	2	4	158	1	0	0	0	0	0	0	0	1	4382	1219	43	1		1	DECR1	8	91029480	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	13262657	91029480	55334542	147	7212										
TRPS1	7227	broad.mit.edu	37	chr8	116599467	116599467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cagcagccccaggcttgcttGggtgtatgacggactccccc	12	15	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.chr8:116599467G>T	ENST00000220888.5	-	4	2581	c.2422C>A	c.(2422-2424)Caa>Aaa	p.Q808K	TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000395715.3_Missense_Mutation_p.Q821K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	808	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)			AGGCTTGCTTGGGTGTATGAC	0.587									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.(2461-2463)Caa>Aaa		trichorhinophalangeal syndrome I							138	143	141					8																	116599467		1956	4136	6092	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.chr8:116599467G>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.2422C>A	8.37:g.116599467G>T	ENSP00000220888:p.Gln808Lys		Somatic				TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K	p.Q821K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	WXS	Illumina GAIIx	Phase_I	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		5	3038	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		808					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2461C>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.217357	0.79352	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98362	-4.89;-4.87;-4.84;-4.87;0.92	5.76	5.76	0.90799	.	0.253507	0.40469	N	0.001096	D	0.97065	0.9041	L	0.32530	0.975	0.50813	D	0.999894	P;P;P	0.50943	0.94;0.9;0.94	P;B;P	0.47402	0.546;0.344;0.546	D	0.97667	1.0164	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	812;808;821	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	821;808;562;812;808	ENSP00000379065:Q821K;ENSP00000220888:Q808K;ENSP00000428910:Q562K;ENSP00000428680:Q812K;ENSP00000429174:Q808K	ENSP00000220888:Q808K	Q	-	1	0	TRPS1	116668642	1.000000	0.71417	0.102000	0.21198	0.887000	0.51463	7.842000	0.86851	2.726000	0.93360	0.655000	0.94253	CAA		0.587	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		7	227	7	227	---	---	---	---	T	116599467	G	T	116599467	3	4	158	1	0	0	0	0	1	0	0	0	16590	1357	47	1	1435	1	TRPS1	8	116599467	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	25569987	116599467	29764555	148	7213										
ZNF250	58500	broad.mit.edu	37	chr8	146108208	146108208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctgtattttgactctctccCttggtttcacattctgaaag	6	10	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.chr8:146108208C>A	ENST00000292579.7	-	6	491	c.375G>T	c.(373-375)aaG>aaT	p.K125N	ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	125					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.K125N(1)		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)		GACTCTCTCCCTTGGTTTCAC	0.403																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			1	Substitution - Missense(1)	p.K125N(1)	lung(1)	endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(373-375)aaG>aaT		zinc finger protein 250							128	133	131					8																	146108208		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108208C>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.375G>T	8.37:g.146108208C>A	ENSP00000292579:p.Lys125Asn		Somatic				ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N	p.K125N	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	WXS	Illumina GAIIx	Phase_I	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	491	-	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)		125					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.375G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	1.005	-0.689628	0.03328	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533221;ENST00000533622;ENST00000525694	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.03	3.1	0.35709	.	0.133358	0.34603	N	0.003835	T	0.37156	0.0993	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.30482	0.281;0.22	B;B	0.27076	0.076;0.074	T	0.10613	-1.0622	10	0.15499	T	0.54	-26.8802	5.1731	0.15120	0.0:0.6437:0.0:0.3563	.	120;125	D3DWP1;P15622	.;ZN250_HUMAN	N	125;120;120;99;120;120	ENSP00000292579:K125N;ENSP00000393442:K120N;ENSP00000433387:K120N;ENSP00000432450:K120N	ENSP00000292579:K125N	K	-	3	2	ZNF250	146079012	0.000000	0.05858	0.012000	0.15200	0.123000	0.20343	0.459000	0.21908	1.213000	0.43380	0.313000	0.20887	AAG		0.403	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		6	176	6	176	---	---	---	---	A	146108208	C	A	146108208	3	1	158	1	0	0	0	0	1	0	0	0	17792	680	24	1	1311	1	ZNF250	8	146108208	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	29508741	146108208	255814	149	7214										
MPDZ	8777	broad.mit.edu	37	chr9	13168532	13168532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atgcttcgaacgatcatcccCaagccatctttattagcact	5	13	2	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.chr9:13168532C>A	ENST00000319217.7	-	22	3334	c.3087G>T	c.(3085-3087)ttG>ttT	p.L1029F	MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1029	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)		CGATCATCCCCAAGCCATCTT	0.363																																						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.(3085-3087)ttG>ttT		multiple PDZ domain protein							185	176	179					9																	13168532		1900	4112	6012	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168532C>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.3087G>T	9.37:g.13168532C>A	ENSP00000320006:p.Leu1029Phe		Somatic				MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	p.L1029F	NM_001261406.1	NP_001248335.1	WXS	Illumina GAIIx	Phase_I	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3334	-			1029			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3087G>T		.	.	.	.	.	.	.	.	.	.	C	17.64	3.438553	0.62955	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	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	5.36	2.03	0.26663	.	0.229208	0.22173	N	0.063618	T	0.39600	0.1084	L	0.52759	1.655	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.993	D;P;P	0.65773	0.938;0.857;0.898	T	0.14811	-1.0459	10	0.21540	T	0.41	.	7.2285	0.26028	0.0:0.5148:0.0:0.4852	.	1029;1029;1029	B7ZMI4;O75970-3;O75970-2	.;.;.	F	1029;1029;1029;35;1029;1029;1029;979;1029	ENSP00000320006:L1029F;ENSP00000439807:L1029F;ENSP00000370410:L1029F;ENSP00000444230:L35F;ENSP00000444151:L1029F;ENSP00000415208:L1029F;ENSP00000370403:L1029F;ENSP00000446358:L1029F	ENSP00000320006:L1029F	L	-	3	2	MPDZ	13158532	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.998000	0.29744	0.749000	0.32854	0.655000	0.94253	TTG		0.363	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		6	234	6	234	---	---	---	---	A	13168532	C	A	13168532	3	1	158	1	0	0	0	0	1	0	0	0	9722	593	21	1	3138	1	MPDZ	9	13168532	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		13168532	128044899	150	7215										
IFNA6	3443	broad.mit.edu	37	chr9	21350489	21350489	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggagtcctcattcatcaggGgagtccctcccacccacacc	8	17	3	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.chr9:21350489G>T	ENST00000380210.1	-	1	888	c.398C>A	c.(397-399)cCc>cAc	p.P133H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	133					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)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCCCTCC	0.498																																						ENST00000380210.1																			0				large_intestine(3)|lung(7)|skin(1)	11						c.(397-399)cCc>cAc		interferon, alpha 6							200	201	201					9																	21350489		2203	4300	6503	SO:0001583	missense	3443				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.chr9:21350489G>T		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.398C>A	9.37:g.21350489G>T	ENSP00000369558:p.Pro133His		Somatic					p.P133H	NM_021002.2	NP_066282.1	WXS	Illumina GAIIx	Phase_I	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	888	-			133					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.398C>A	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416323	0.25552	.	.	ENSG00000120235	ENST00000380210	T	0.03496	3.91	3.78	2.87	0.33458	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.298961	0.27591	N	0.018696	T	0.08223	0.0205	M	0.80183	2.485	0.09310	N	1	B	0.15141	0.012	B	0.31245	0.126	T	0.14476	-1.0471	10	0.66056	D	0.02	.	8.7139	0.34399	0.1138:0.0:0.8862:0.0	.	133	P05013	IFNA6_HUMAN	H	133	ENSP00000369558:P133H	ENSP00000369558:P133H	P	-	2	0	IFNA6	21340489	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	0.793000	0.26944	0.674000	0.31244	0.591000	0.81541	CCC		0.498	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		8	293	8	293	---	---	---	---	T	21350489	G	T	21350489	3	4	158	1	0	0	0	0	1	0	0	0	7541	1232	43	1	173	1	IFNA6	9	21350489	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	8181957	21350489	119862942	151	7216										
TAF1L	138474	broad.mit.edu	37	chr9	32634292	32634292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccagatgatagaatcctccCaatgcagctgtgtcaccatc	7	14	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.chr9:32634292C>A	ENST00000242310.4	-	1	1375	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	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	429					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)		AGAATCCTCCCAATGCAGCTG	0.458																																						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.(1285-1287)tGg>tTg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							240	223	229					9																	32634292		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.chr9:32634292C>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.1286G>T	9.37:g.32634292C>A	ENSP00000418379:p.Trp429Leu		Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.W429L	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1375	-			429					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1286G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150019	0.57151	.	.	ENSG00000122728	ENST00000242310	T	0.55413	0.52	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.82517	2.595	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.67612	-0.5626	10	0.87932	D	0	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	429	Q8IZX4	TAF1L_HUMAN	L	429	ENSP00000418379:W429L	ENSP00000418379:W429L	W	-	2	0	TAF1L	32624292	1.000000	0.71417	0.935000	0.37517	0.311000	0.27955	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	TGG		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	237	7	237	---	---	---	---	A	32634292	C	A	32634292	3	1	158	1	0	0	0	0	1	0	0	0	15520	595	21	1	4198	1	TAF1L	9	32634292	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11283803	32634292	108579139	152	7217										
UBAP2	55833	broad.mit.edu	37	chr9	33924204	33924204	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	catccattgagcaaactcacCtggatatggattattagcta	7	9	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.chr9:33924204C>A	ENST00000379238.1	-	23	2707	c.2590G>T	c.(2590-2592)Ggt>Tgt	p.G864C	UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C					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)		GCAAACTCACCTGGATATGGA	0.562																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2590-2592)Ggt>Tgt		ubiquitin associated protein 2							94	90	91					9																	33924204		2203	4300	6503	SO:0001630	splice_region_variant	55833							g.chr9:33924204C>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.2590+1G>T	9.37:g.33924204C>A			Somatic				UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C	p.G864C			WXS	Illumina GAIIx	Phase_I	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	23	2707	-			864						Splice_Site	SNP	ENST00000379238.1	37	c.2590G>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106668	0.37145	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.8	3.96	0.45880	.	0.085063	0.85682	D	0.000000	T	0.52837	0.1759	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;P	0.68943	0.961;0.944;0.944;0.944;0.879	T	0.56129	-0.8030	9	.	.	.	-14.0719	11.9624	0.53015	0.0:0.8612:0.0:0.1388	.	789;619;597;773;864	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	C	864;864;864;773;103;597;619;300	ENSP00000368540:G864C;ENSP00000416932:G864C;ENSP00000354039:G864C;ENSP00000368537:G103C;ENSP00000368541:G597C;ENSP00000439329:G619C	.	G	-	1	0	UBAP2	33914204	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	3.105000	0.50314	1.475000	0.48197	-0.258000	0.10820	GGT		0.562	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Missense_Mutation	6	103	6	103	---	---	---	---	A	33924204	C	A	33924204	5	1	158	1	0	0	0	0	0	0	1	0	16834	695	24	1	797	1	UBAP2	9	33924204	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1289912	33924204	107289227	153	7218										
VCP	7415	broad.mit.edu	37	chr9	35068275	35068275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaggacaccacactgttgtcCtcattgatggcttcatcaac	7	12	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.chr9:35068275C>A	ENST00000358901.6	-	2	997	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	34					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)			CACTGTTGTCCTCATTGATGG	0.443																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(100-102)gaG>gaT		valosin containing protein							374	344	354					9																	35068275		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.chr9:35068275C>A	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.102G>T	9.37:g.35068275C>A	ENSP00000351777:p.Glu34Asp		Somatic					p.E34D	NM_007126.3	NP_009057.1	WXS	Illumina GAIIx	Phase_I	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	997	-			34					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.102G>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	5.322	0.244741	0.10077	.	.	ENSG00000165280	ENST00000358901	T	0.81415	-1.49	6.06	2.88	0.33553	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	N	0.00049	-2.42	0.44234	D	0.997075	B	0.02656	0.0	B	0.01281	0.0	T	0.51529	-0.8694	10	0.02654	T	1	-31.3762	7.1114	0.25392	0.0:0.612:0.0:0.388	.	34	P55072	TERA_HUMAN	D	34	ENSP00000351777:E34D	ENSP00000351777:E34D	E	-	3	2	VCP	35058275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.197000	0.32211	0.884000	0.36064	0.655000	0.94253	GAG		0.443	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		9	404	9	404	---	---	---	---	A	35068275	C	A	35068275	3	1	158	1	0	0	0	0	1	0	0	0	17137	680	24	1	2382	1	VCP	9	35068275	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1144071	35068275	106145156	154	7219										
SPAG8	4882	broad.mit.edu	37	chr9	35810051	35810051	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttcatagggcaaaagtttccCcagagacaagggtactggtg	12	8	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.chr9:35810051C>A	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000484764.1_Missense_Mutation_p.G440W|SPAG8_ENST00000479751.1_5'UTR	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)	AAAAGTTTCCCCAGAGACAAG	0.537																																						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.(1318-1320)Ggg>Tgg		sperm associated antigen 8							155	173	167					9																	35810051		2196	4297	6493	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810051C>A	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.35810051C>A			Somatic				SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron	p.G440W			WXS	Illumina GAIIx	Phase_I	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1358	-	all_epithelial(49;0.161)		81					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1318G>T	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.84|15.84	2.952787|2.952787	0.53293|0.53293	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000484764;ENST00000396638|ENST00000497810	T;T|.	0.34472|.	1.37;1.36|.	5.53|5.53	4.63|4.63	0.57726|0.57726	.|.	.|.	.|.	.|.	.|.	T|T	0.41351|0.41351	0.1155|0.1155	L|L	0.44542|0.44542	1.39|1.39	0.26497|0.26497	N|N	0.974844|0.974844	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.24657|0.24657	-1.0154|-1.0154	9|5	0.87932|.	D|.	0|.	.|.	9.3166|9.3166	0.37937|0.37937	0.0:0.9054:0.0:0.0946|0.0:0.9054:0.0:0.0946	.|.	448|.	E9PDV6|.	.|.	W|C	440;448|445	ENSP00000418072:G440W;ENSP00000379878:G448W|.	ENSP00000379878:G448W|.	G|W	-|-	1|3	0|0	SPAG8|SPAG8	35800051|35800051	0.373000|0.373000	0.25073|0.25073	0.980000|0.980000	0.43619|0.43619	0.924000|0.924000	0.55760|0.55760	1.901000|1.901000	0.39838|0.39838	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.537	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			7	173	7	173	---	---	---	---	A	35810051	C	A	35810051	1	1	158	0	1	0	0	0	0	0	0	0	14984	623	22	1		1	SPAG8	9	35810051	IGR	SNP	C	TCGA-HC-7081-01A-11D-1961-08	741776	35810051	105403380	155	7220										
MAMDC2	256691	broad.mit.edu	37	chr9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggacccgagtgaaagtaaaAccaaacatgtatcgggctgg	12	8	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.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		Somatic				MAMDC2-AS1_ENST00000591368.1_RNA	p.K366N	NM_153267.4	NP_694999.3	WXS	Illumina GAIIx	Phase_I	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	7	127	---	---	---	---	T	72755164	A	T	72755164	3	4	158	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	36945113	72755164	68458267	156	7221										
VPS13A	23230	broad.mit.edu	37	chr9	79834914	79834914	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccaaacttgtgatgaatcgcCgatctgattttgacttttct	7	9	2	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.chr9:79834914C>A	ENST00000360280.3	+	11	1059	c.799C>A	c.(799-801)Cga>Aga	p.R267R	VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R|VPS13A_ENST00000376634.4_Silent_p.R267R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	267					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						GATGAATCGCCGATCTGATTT	0.313																																						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.(799-801)Cga>Aga		vacuolar protein sorting 13 homolog A (S. cerevisiae)							80	82	82					9																	79834914		2203	4299	6502	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79834914C>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.799C>A	9.37:g.79834914C>A			Somatic				VPS13A_ENST00000376634.4_Silent_p.R267R|VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R	p.R267R	NM_033305.2	NP_150648.2	WXS	Illumina GAIIx	Phase_I	Q96RL7	VP13A_HUMAN			11	1059	+			267					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.799C>A	CCDS6655.1																																																																																				0.313	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	119	5	119	---	---	---	---	A	79834914	C	A	79834914	2	1	158	1	0	0	0	0	0	0	0	1	17186	644	23	1		1	VPS13A	9	79834914	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7079750	79834914	61378517	157	7222										
COL15A1	1306	broad.mit.edu	37	chr9	101787171	101787171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tttagggtcctccaggacccCcagggccacctggcttacct	10	16	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.chr9:101787171C>A	ENST00000375001.3	+	15	2293	c.1870C>A	c.(1870-1872)Cca>Aca	p.P624T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	624	Collagen-like 1.|Triple-helical region 2 (COL2).				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)				TCCAGGACCCCCAGGGCCACC	0.507																																						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.(1870-1872)Cca>Aca		collagen, type XV, alpha 1							57	59	58					9																	101787171		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101787171C>A	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.1870C>A	9.37:g.101787171C>A	ENSP00000364140:p.Pro624Thr		Somatic					p.P624T	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			15	2293	+		Acute lymphoblastic leukemia(62;0.0562)	624			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1870C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505210	0.44558	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.97710	-4.5	4.48	4.48	0.54585	.	0.186512	0.47455	N	0.000221	D	0.97882	0.9304	M	0.72118	2.19	0.35751	D	0.819402	D	0.89917	1.0	D	0.91635	0.999	D	0.98160	1.0446	10	0.08179	T	0.78	-3.469	12.5278	0.56096	0.0:1.0:0.0:0.0	.	624	P39059	COFA1_HUMAN	T	624;594	ENSP00000364140:P624T	ENSP00000364140:P624T	P	+	1	0	COL15A1	100826992	0.979000	0.34478	0.994000	0.49952	0.994000	0.84299	4.544000	0.60691	2.342000	0.79632	0.655000	0.94253	CCA		0.507	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	70	5	70	---	---	---	---	A	101787171	C	A	101787171	3	1	158	1	0	0	0	0	1	0	0	0	3672	623	22	1	1928	1	COL15A1	9	101787171	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	21952257	101787171	39426260	158	7223										
RNF20	56254	broad.mit.edu	37	chr9	104313041	104313041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttcatggcaccagaggaaccCaccagcaccaggttgagctt	10	13	1	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.chr9:104313041C>A	ENST00000389120.3	+	10	1336	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	416					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.H416N(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)		CAGAGGAACCCACCAGCACCA	0.463																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.H416N(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.(1246-1248)Cac>Aac		ring finger protein 20, E3 ubiquitin protein ligase							193	206	202					9																	104313041		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.chr9:104313041C>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.1246C>A	9.37:g.104313041C>A	ENSP00000373772:p.His416Asn		Somatic					p.H416N	NM_019592.5	NP_062538.5	WXS	Illumina GAIIx	Phase_I	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1336	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	416					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1246C>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116076	0.56505	.	.	ENSG00000155827	ENST00000389120	T	0.37058	1.22	5.92	5.92	0.95590	.	0.088981	0.85682	D	0.000000	T	0.40909	0.1136	M	0.64997	1.995	0.48762	D	0.9997	B	0.22276	0.067	B	0.21360	0.034	T	0.12993	-1.0526	10	0.31617	T	0.26	-18.6552	19.9164	0.97064	0.0:1.0:0.0:0.0	.	416	Q5VTR2	BRE1A_HUMAN	N	416	ENSP00000373772:H416N	ENSP00000373772:H416N	H	+	1	0	RNF20	103352862	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.402000	0.59722	2.810000	0.96702	0.650000	0.86243	CAC		0.463	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		6	199	6	199	---	---	---	---	A	104313041	C	A	104313041	3	1	158	1	0	0	0	0	1	0	0	0	13473	594	21	1	1280	1	RNF20	9	104313041	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2525870	104313041	36900390	159	7224										
ZNF462	58499	broad.mit.edu	37	chr9	109688260	109688260	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tttcctctagatttgtcaccCgtgaagaagagaaccaggat	9	9	2	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.chr9:109688260C>A	ENST00000277225.5	+	3	2356	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P689P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	689					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.P689P(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						ATTTGTCACCCGTGAAGAAGA	0.433																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.P689P(1)	lung(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.(2065-2067)ccC>ccA		zinc finger protein 462							190	190	190					9																	109688260		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688260C>A	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.2067C>A	9.37:g.109688260C>A			Somatic				ZNF462_ENST00000457913.1_Silent_p.P689P	p.P689P			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	2356	+			689					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2067C>A	CCDS35096.1																																																																																				0.433	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	248	8	248	---	---	---	---	A	109688260	C	A	109688260	2	1	158	1	0	0	0	0	0	0	0	1	17923	639	23	1		1	ZNF462	9	109688260	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5375219	109688260	31525171	160	7225										
ZNF462	58499	broad.mit.edu	37	chr9	109689354	109689354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcattatcagaagaaacaccCcgaagaaaaggcttcctact	6	11	2	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.chr9:109689354C>A	ENST00000277225.5	+	3	3450	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1054					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						AAGAAACACCCCGAAGAAAAG	0.443																																						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.(3160-3162)cCc>cAc		zinc finger protein 462							195	190	192					9																	109689354		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689354C>A	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.3161C>A	9.37:g.109689354C>A	ENSP00000277225:p.Pro1054His		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H	p.P1054H			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	3450	+			1054					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3161C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582903	0.65992	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.15952	2.38;2.75	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.34354	-0.9832	10	0.72032	D	0.01	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	1054;1054	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	1054	ENSP00000277225:P1054H;ENSP00000414570:P1054H	ENSP00000277225:P1054H	P	+	2	0	ZNF462	108729175	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	7.714000	0.84703	2.630000	0.89119	0.655000	0.94253	CCC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	188	7	188	---	---	---	---	A	109689354	C	A	109689354	3	1	158	1	0	0	0	0	1	0	0	0	17923	623	22	1	3167	1	ZNF462	9	109689354	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1094	109689354	31524077	161	7226										
SPTAN1	6709	broad.mit.edu	37	chr9	131356647	131356647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agaagaagtttgatgacttcCagaaggtatgggcagtcttc	12	6	1	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.chr9:131356647C>A	ENST00000372731.4	+	24	3519	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1137K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1137					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						TGATGACTTCCAGAAGGTATG	0.418																																					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.(3409-3411)Cag>Aag		spectrin, alpha, non-erythrocytic 1							64	62	63					9																	131356647		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.chr9:131356647C>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.3409C>A	9.37:g.131356647C>A	ENSP00000361816:p.Gln1137Lys		Somatic				SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1137K	p.Q1137K			WXS	Illumina GAIIx	Phase_I	Q13813	SPTA2_HUMAN			24	3522	+			1137					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3409C>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637314	0.67130	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.48201	0.82;0.82;0.82	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.58354	1.805	0.80722	D	1	P;P;B;P;P	0.44776	0.843;0.843;0.021;0.811;0.843	P;P;B;P;D	0.64506	0.893;0.893;0.012;0.879;0.926	T	0.55386	-0.8149	10	0.23891	T	0.37	.	20.1384	0.98044	0.0:1.0:0.0:0.0	.	1137;1117;1117;1137;1137	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	1137;1137;1137;1117	ENSP00000350882:Q1137K;ENSP00000361816:Q1137K;ENSP00000361824:Q1137K	ENSP00000350882:Q1137K	Q	+	1	0	SPTAN1	130396468	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.410000	0.80065	2.754000	0.94517	0.651000	0.88453	CAG		0.418	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	51	4	51	---	---	---	---	A	131356647	C	A	131356647	3	1	158	1	0	0	0	0	1	0	0	0	15116	595	21	1	3499	1	SPTAN1	9	131356647	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	21667293	131356647	9856784	162	7227										
KCNT1	57582	broad.mit.edu	37	chr9	138683669	138683669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgaacgaccaccagaacaccCtctcctacgtcctcatcaac	4	18	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.chr9:138683669C>A	ENST00000263604.3	+	30	3514	c.3514C>A	c.(3514-3516)Ctc>Atc	p.L1172I	KCNT1_ENST00000298480.5_Missense_Mutation_p.L1198I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1172					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)		CCAGAACACCCTCTCCTACGT	0.647																																						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.(3592-3594)Ctc>Atc		potassium channel, subfamily T, member 1							163	144	151					9																	138683669		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138683669C>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.3514C>A	9.37:g.138683669C>A	ENSP00000263604:p.Leu1172Ile		Somatic				KCNT1_ENST00000263604.3_Missense_Mutation_p.L1172I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I	p.L1198I			WXS	Illumina GAIIx	Phase_I	B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	31	3666	+		Myeloproliferative disorder(178;0.0821)	1177					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.3592C>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.398786	0.25291	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.28666	1.69;1.63;1.6;1.66	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000004	T	0.21761	0.0524	N	0.25144	0.715	0.44685	D	0.997672	B;B;B	0.27679	0.185;0.034;0.058	B;B;B	0.34138	0.176;0.081;0.169	T	0.08680	-1.0710	10	0.44086	T	0.13	-43.556	6.832	0.23915	0.0:0.7819:0.0:0.2181	.	1165;1177;1153	C9JYL2;B9EGP2;G5E9V0	.;.;.	I	1153;1198;1177;1157;1165;1179;1177;1172	ENSP00000417851:L1153I;ENSP00000298480:L1198I;ENSP00000360822:L1177I;ENSP00000263604:L1172I	ENSP00000263604:L1172I	L	+	1	0	KCNT1	137823490	0.269000	0.24143	0.651000	0.29564	0.132000	0.20833	0.848000	0.27710	2.438000	0.82558	0.655000	0.94253	CTC		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		6	103	6	103	---	---	---	---	A	138683669	C	A	138683669	3	1	158	1	0	0	0	0	1	0	0	0	8091	681	24	1	3647	1	KCNT1	9	138683669	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7327022	138683669	2529762	163	7228										
CCNY	219771	broad.mit.edu	37	chr10	35854950	35854950	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atttttgtctttgctttgcaGgaacgagctagagcgacagt	11	7	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.chr10:35854950G>T	ENST00000374704.4	+	9	926		c.e9-1		CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000374706.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGCTTTGCAGGAACGAGCTA	0.473																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.e9-1		cyclin Y							132	121	124					10																	35854950		2203	4300	6503	SO:0001630	splice_region_variant	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35854950G>T	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.747-1G>T	10.37:g.35854950G>T			Somatic				CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site		NM_145012.4	NP_659449.3	WXS	Illumina GAIIx	Phase_I	Q8ND76	CCNY_HUMAN			9	926	+								B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	ENST00000374704.4	37		CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740407	0.89573	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3595	0.94431	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNY	35894956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.826000	0.99387	2.590000	0.87494	0.655000	0.94253	.		0.473	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	Intron	6	101	6	101	---	---	---	---	T	35854950	G	T	35854950	5	4	158	1	0	0	0	0	0	0	1	0	2936	1014	35	1	780	1	CCNY	10	35854950	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08		35854950	99679797	164	7229										
STOX1	219736	broad.mit.edu	37	chr10	70641864	70641864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcgtttgatgaaacattaccCaggtagagtaataaattttt	8	5	0	3	rs367982047		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.chr10:70641864C>A	ENST00000298596.6	+	2	544	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	154						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						AAACATTACCCAGGTAGAGTA	0.343																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(460-462)cCa>cAa		storkhead box 1							102	91	95					10																	70641864		1832	4079	5911	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641864C>A	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.461C>A	10.37:g.70641864C>A	ENSP00000298596:p.Pro154Gln		Somatic				STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	p.P154Q	NM_152709.4	NP_689922.3	WXS	Illumina GAIIx	Phase_I	Q6ZVD7	STOX1_HUMAN			2	544	+			154					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.461C>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618696	0.87460	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.161166	0.41712	U	0.000823	D	0.88254	0.6387	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.989	D	0.88947	0.3384	10	0.66056	D	0.02	.	15.3903	0.74739	0.0:0.8612:0.1388:0.0	.	154;154;154	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	Q	154;154;154;154;44	ENSP00000382121:P154Q;ENSP00000298596:P154Q;ENSP00000382118:P154Q;ENSP00000382115:P154Q;ENSP00000394509:P44Q	ENSP00000298596:P154Q	P	+	2	0	STOX1	70311870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.890000	0.69774	2.779000	0.95612	0.591000	0.81541	CCA		0.343	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		5	89	5	89	---	---	---	---	A	70641864	C	A	70641864	3	1	158	1	0	0	0	0	1	0	0	0	15318	594	21	1	467	1	STOX1	10	70641864	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	34786914	70641864	64892883	165	7230										
CDH23	64072	broad.mit.edu	37	chr10	73571187	73571187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgccggatgacatgtctgccCtgcaggtacccggcgaccgt	13	14	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.chr10:73571187C>A	ENST00000224721.6	+	62	9213	c.9208C>A	c.(9208-9210)Ctg>Atg	p.L3070M	CDH23_ENST00000398788.3_Missense_Mutation_p.L825M|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3065					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						CATGTCTGCCCTGCAGGTACC	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.(9208-9210)Ctg>Atg		cadherin-related 23							55	63	60					10																	73571187		2091	4195	6286	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.chr10:73571187C>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.9208C>A	10.37:g.73571187C>A	ENSP00000224721:p.Leu3070Met		Somatic				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.L825M	p.L3070M	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			62	9213	+			3065					C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9208C>A		.	.	.	.	.	.	.	.	.	.	C	19.10	3.761938	0.69763	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60171	0.21	5.51	4.6	0.57074	.	0.000000	0.64402	D	0.000009	T	0.60560	0.2278	L	0.54323	1.7	0.53688	D	0.999976	D;D	0.57899	0.981;0.981	P;P	0.51193	0.662;0.662	T	0.64106	-0.6485	10	0.66056	D	0.02	.	11.565	0.50800	0.0:0.8068:0.1237:0.0695	.	3065;3065	E9PEX1;Q9H251	.;CAD23_HUMAN	M	3070;3065;3068;825	ENSP00000381768:L825M	ENSP00000224721:L3070M	L	+	1	2	CDH23	73241193	0.984000	0.35163	1.000000	0.80357	0.812000	0.45895	2.677000	0.46892	2.601000	0.87937	0.555000	0.69702	CTG		0.642	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	49	5	49	---	---	---	---	A	73571187	C	A	73571187	3	1	158	1	0	0	0	0	1	0	0	0	3108	680	24	1	9784	1	CDH23	10	73571187	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2929323	73571187	61963560	166	7231										
TTC18	118491	broad.mit.edu	37	chr10	75104886	75104886	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccaggacctgttggaatgaaGgattcaggcacagagtaagc	13	8	1	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.chr10:75104886G>T	ENST00000310715.3	-	6	666	c.546C>A	c.(544-546)tcC>tcA	p.S182S	TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000401621.2_Silent_p.S182S|Y_RNA_ENST00000384742.1_RNA|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		182						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)					TTGGAATGAAGGATTCAGGCA	0.478																																						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.(544-546)tcC>tcA		tetratricopeptide repeat domain 18							192	176	181					10																	75104886		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75104886G>T																												ENST00000310715.3:c.546C>A	10.37:g.75104886G>T			Somatic				TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.S182S|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000493787.1_5'UTR	p.S182S	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			6	666	-	Prostate(51;0.0119)		182					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.546C>A	CCDS7324.3																																																																																				0.478	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	231	8	231	---	---	---	---	T	75104886	G	T	75104886	2	4	158	1	0	0	0	0	0	0	0	1	16682	987	35	1		1	TTC18	10	75104886	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1533699	75104886	60429861	167	7232										
ZMIZ1	57178	broad.mit.edu	37	chr10	81070925	81070925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcagggagcgtccgacatgcCggagccttcgctggatgtaa	15	11	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.chr10:81070925C>A	ENST00000334512.5	+	24	3652	c.3080C>A	c.(3079-3081)cCg>cAg	p.P1027Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1027					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)			TCCGACATGCCGGAGCCTTCG	0.677																																						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.(3079-3081)cCg>cAg		zinc finger, MIZ-type containing 1							63	68	66					10																	81070925		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070925C>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.3080C>A	10.37:g.81070925C>A	ENSP00000334474:p.Pro1027Gln		Somatic				ZMIZ1_ENST00000446377.2_Intron	p.P1027Q	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3652	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1027					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.3080C>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032597	0.75504	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.34275	1.37	4.56	3.66	0.41972	.	0.000000	0.41396	D	0.000888	T	0.55386	0.1917	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.59198	-0.7499	10	0.87932	D	0	-14.3744	13.0034	0.58690	0.0:0.9205:0.0:0.0795	.	1027	Q9ULJ6	ZMIZ1_HUMAN	Q	1027;957;928	ENSP00000334474:P1027Q	ENSP00000334474:P1027Q	P	+	2	0	ZMIZ1	80740931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	1.044000	0.40200	0.491000	0.48974	CCG		0.677	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	124	5	124	---	---	---	---	A	81070925	C	A	81070925	3	1	158	1	0	0	0	0	1	0	0	0	17693	652	23	1	3158	1	ZMIZ1	10	81070925	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5966039	81070925	54463822	168	7233										
FAS	355	broad.mit.edu	37	chr10	90768686	90768686	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgcacccggacccagaatacCaagtgcagatgtaaaccaaa	8	12	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.chr10:90768686C>A	ENST00000355279.2	+	4	375	c.375C>A	c.(373-375)acC>acA	p.T125T	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T|FAS_ENST00000352159.4_Silent_p.T125T			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)	CCCAGAATACCAAGTGCAGAT	0.363																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(373-375)acC>acA		Fas cell surface death receptor							291	319	309					10																	90768686		2203	4300	6503	SO:0001819	synonymous_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.chr10:90768686C>A	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.375C>A	10.37:g.90768686C>A			Somatic				FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T125T|FAS_ENST00000355279.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T	p.T125T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	WXS	Illumina GAIIx	Phase_I	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	595	+		Colorectal(252;0.0161)	125					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000355279.2	37	c.375C>A	CCDS7395.1																																																																																				0.363	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			9	545	9	545	---	---	---	---	A	90768686	C	A	90768686	2	1	158	1	0	0	0	0	0	0	0	1	5681	581	21	1		1	FAS	10	90768686	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9697761	90768686	44766061	169	7234										
CEP55	55165	broad.mit.edu	37	chr10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agatttaattaaaagtaagtGgggatcgaagcctagtaact	10	4	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.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(40-42)tGg>tTg		centrosomal protein 55kDa							110	123	118					10																	95259849		2202	4300	6502	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95259849G>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"cancer/testis antigen 111"	610000	"chromosome 10 open reading frame 3"	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.41G>T	10.37:g.95259849G>T	ENSP00000360540:p.Trp14Leu		Somatic					p.W14L	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			2	345	+		Colorectal(252;0.207)	14					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.41G>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782884	0.31502	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.14391	2.51	5.24	4.29	0.51040	.	0.071307	0.64402	D	0.000016	T	0.09818	0.0241	L	0.38838	1.175	0.38709	D	0.953172	P	0.37015	0.578	B	0.29267	0.1	T	0.25710	-1.0124	10	0.20519	T	0.43	-5.7409	13.8866	0.63712	0.0:0.0:0.8488:0.1512	.	14	Q53EZ4	CEP55_HUMAN	L	14	ENSP00000360540:W14L	ENSP00000351102:W14L	W	+	2	0	CEP55	95249839	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.958000	0.49145	2.614000	0.88457	0.557000	0.71058	TGG		0.318	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		7	242	7	242	---	---	---	---	T	95259849	G	T	95259849	3	4	158	1	0	0	0	0	1	0	0	0	3255	1357	47	1	43	1	CEP55	10	95259849	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4491163	95259849	40274898	170	7235										
CC2D2B	387707	broad.mit.edu	37	chr10	97791669	97791669	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	attcactctgctgaatttccCcagacagaatttgctttagc	6	11	2	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.chr10:97791669C>A	ENST00000344386.3	+	9	1037	c.873C>A	c.(871-873)ccC>ccA	p.P291P	ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	291										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)		CTGAATTTCCCCAGACAGAAT	0.393																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(871-873)ccC>ccA		coiled-coil and C2 domain containing 2B							165	147	153					10																	97791669		1857	4103	5960	SO:0001819	synonymous_variant	387707							g.chr10:97791669C>A	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.873C>A	10.37:g.97791669C>A			Somatic				ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	p.P291P	NM_001001732.3	NP_001001732.2	WXS	Illumina GAIIx	Phase_I	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	9	1037	+		Colorectal(252;0.158)	291					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.873C>A	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365194	0.61513	.	.	ENSG00000188649	ENST00000410012	.	.	.	6.04	-0.0608	0.13788	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54450	-0.8292	5	0.87932	D	0	.	2.6451	0.04982	0.1187:0.5023:0.115:0.2641	.	.	.	.	H	371	.	ENSP00000386988:P371H	P	+	2	0	CC2D2B	97781659	0.380000	0.25131	0.995000	0.50966	0.901000	0.52897	-0.287000	0.08388	-0.046000	0.13446	0.563000	0.77884	CCC		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		6	121	6	121	---	---	---	---	A	97791669	C	A	97791669	2	1	158	1	0	0	0	0	0	0	0	1	2729	610	22	1		1	CC2D2B	10	97791669	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2531820	97791669	37743078	171	7236										
CNNM1	26507	broad.mit.edu	37	chr10	101120619	101120619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcggaaaaagcagagggtccCgcaacgggagcggaagcggc	17	10	0	1	rs150442293		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.chr10:101120619C>A	ENST00000356713.4	+	3	2034	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	582					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)		CAGAGGGTCCCGCAACGGGAG	0.527																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1744-1746)cCg>cAg		cyclin M1							134	140	138					10																	101120619		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101120619C>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.1745C>A	10.37:g.101120619C>A	ENSP00000349147:p.Pro582Gln		Somatic				CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	p.P582Q	NM_020348.2	NP_065081.2	WXS	Illumina GAIIx	Phase_I	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	3	2034	+		Colorectal(252;0.234)	582					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1745C>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177586	0.57692	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.82619	-1.63;-1.63;-1.62;-0.63	5.74	4.84	0.62591	.	0.055147	0.85682	D	0.000000	T	0.81740	0.4886	L	0.36672	1.1	0.43756	D	0.996269	P;P;B;B	0.42692	0.769;0.787;0.154;0.298	B;P;B;B	0.53266	0.304;0.722;0.039;0.252	T	0.77593	-0.2530	10	0.23302	T	0.38	-5.7218	10.1723	0.42917	0.1366:0.793:0.0:0.0704	.	217;582;217;582	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	Q	582;511;511;217;35	ENSP00000349147:P582Q;ENSP00000406492:P511Q;ENSP00000359559:P511Q;ENSP00000359565:P217Q	ENSP00000349147:P582Q	P	+	2	0	CNNM1	101110609	0.991000	0.36638	0.800000	0.32199	0.877000	0.50540	3.228000	0.51270	1.431000	0.47355	0.655000	0.94253	CCG		0.527	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		5	216	5	216	---	---	---	---	A	101120619	C	A	101120619	3	1	158	1	0	0	0	0	1	0	0	0	3612	652	23	1	1755	1	CNNM1	10	101120619	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3328950	101120619	34414128	172	7237										
PPRC1	23082	broad.mit.edu	37	chr10	103897727	103897727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgcaggatgagacactgctgGggaccatgcagagctacatg	14	9	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.chr10:103897727G>T	ENST00000278070.2	+	2	313	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	92					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)		GACACTGCTGGGGACCATGCA	0.547																																						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.(274-276)Ggg>Tgg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							114	101	105					10																	103897727		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103897727G>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.274G>T	10.37:g.103897727G>T	ENSP00000278070:p.Gly92Trp		Somatic				PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	p.G92W	NM_015062.3	NP_055877.3	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	313	+		Colorectal(252;0.122)	92					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.274G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428682	0.62844	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.31769	1.48;1.48	5.19	5.19	0.71726	.	0.437819	0.21865	N	0.067972	T	0.44138	0.1279	N	0.24115	0.695	0.35051	D	0.760661	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.56541	-0.7962	10	0.87932	D	0	.	18.7678	0.91880	0.0:0.0:1.0:0.0	.	92;92	E7EVG6;Q5VV67	.;PPRC1_HUMAN	W	92	ENSP00000278070:G92W;ENSP00000399743:G92W	ENSP00000278070:G92W	G	+	1	0	PPRC1	103887717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.611000	0.88343	0.555000	0.69702	GGG		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	60	5	60	---	---	---	---	T	103897727	G	T	103897727	3	4	158	1	0	0	0	0	1	0	0	0	12410	1232	43	1	280	1	PPRC1	10	103897727	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2777108	103897727	31637020	173	7238										
PSD	5662	broad.mit.edu	37	chr10	104165148	104165148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacctttcgcaccagggcccCgtgcttgtagacggcagccc	11	17	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.chr10:104165148C>A	ENST00000020673.5	-	12	2807	c.2281G>T	c.(2281-2283)Ggg>Tgg	p.G761W	PSD_ENST00000406432.1_Missense_Mutation_p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	761	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)|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)		ACCAGGGCCCCGTGCTTGTAG	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.(2281-2283)Ggg>Tgg		pleckstrin and Sec7 domain containing							80	86	84					10																	104165148		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.chr10:104165148C>A	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.2281G>T	10.37:g.104165148C>A	ENSP00000020673:p.Gly761Trp		Somatic				PSD_ENST00000406432.1_Missense_Mutation_p.G761W	p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	WXS	Illumina GAIIx	Phase_I	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	12	2807	-			761			PH.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2281G>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418965	0.83559	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.76709	-1.04;-1.04	4.21	4.21	0.49690	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93981	0.7258	10	0.87932	D	0	.	16.7445	0.85468	0.0:1.0:0.0:0.0	.	761;664	A5PKW4;Q86YI3	PSD1_HUMAN;.	W	761;664;761	ENSP00000020673:G761W;ENSP00000384830:G761W	ENSP00000020673:G761W	G	-	1	0	PSD	104155138	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.723000	0.68492	2.178000	0.69098	0.561000	0.74099	GGG		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	188	7	188	---	---	---	---	A	104165148	C	A	104165148	3	1	158	1	0	0	0	0	1	0	0	0	12646	652	23	1	817	1	PSD	10	104165148	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	267421	104165148	31369599	174	7239										
COL17A1	1308	broad.mit.edu	37	chr10	105815721	105815721	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atgctcctcctgatcctctcCagctcatccacacgcgcctt	5	19	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.chr10:105815721C>A	ENST00000353479.5	-	18	1796	c.1506G>T	c.(1504-1506)ctG>ctT	p.L502L	COL17A1_ENST00000369733.3_Silent_p.L502L|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	502	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)		TGATCCTCTCCAGCTCATCCA	0.602																																						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.(1504-1506)ctG>ctT		collagen, type XVII, alpha 1							139	112	121					10																	105815721		2203	4300	6503	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.chr10:105815721C>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.1506G>T	10.37:g.105815721C>A			Somatic				COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.L502L	p.L502L	NM_000494.3	NP_000485.3	WXS	Illumina GAIIx	Phase_I	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	1796	-		Colorectal(252;0.103)|Breast(234;0.122)	502			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.1506G>T	CCDS7554.1																																																																																				0.602	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	159	6	159	---	---	---	---	A	105815721	C	A	105815721	2	1	158	1	0	0	0	0	0	0	0	1	3674	581	21	1		1	COL17A1	10	105815721	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1650573	105815721	29719026	175	7240										
CTBP2	1488	broad.mit.edu	37	chr10	126714705	126714705	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gggtgcccctgtgcgccgggCcaccttctggtacggtgagt	16	13	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.chr10:126714705C>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Missense_Mutation_p.A542S|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_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)		GTGCGCCGGGCCACCTTCTGG	0.682																																						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.(1624-1626)Gcc>Tcc		C-terminal binding protein 2							89	90	90					10																	126714705		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.chr10:126714705C>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.58+12860G>T	10.37:g.126714705C>A			Somatic				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	p.A542S	NM_022802.2	NP_073713.2	WXS	Illumina GAIIx	Phase_I	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1754	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1624G>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116641	0.37339	.	.	ENSG00000175029	ENST00000309035	D	0.81908	-1.55	5.29	5.29	0.74685	.	0.625388	0.14906	N	0.291509	T	0.72358	0.3450	.	.	.	0.80722	D	1	B	0.23377	0.084	B	0.18561	0.022	T	0.66296	-0.5959	9	0.31617	T	0.26	.	7.2221	0.25994	0.0:0.7923:0.0:0.2077	.	542	P56545-2	.	S	542	ENSP00000311825:A542S	ENSP00000311825:A542S	A	-	1	0	CTBP2	126704695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.014000	0.70784	2.642000	0.89623	0.591000	0.81541	GCC		0.682	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		7	156	7	156	---	---	---	---	A	126714705	C	A	126714705	1	1	158	0	1	0	0	0	0	0	0	0	3998	739	26	3		3	CTBP2	10	126714705	Intron	SNP	C	TCGA-HC-7081-01A-11D-1961-08	20898984	126714705	8820042	176	7241										
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718821	1718821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctgcaagccctgctgttccCaggccagctgctgtgtcccc	11	17	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.chr11:1718821C>A	ENST00000382160.1	+	1	397	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	116						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		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;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTGTTCCCAGGCCAGCTG	0.577																																						ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(346-348)Cag>Aag		keratin associated protein 5-6							119	132	128					11																	1718821		2202	4299	6501	SO:0001583	missense	440023					keratin filament		g.chr11:1718821C>A	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.346C>A	11.37:g.1718821C>A	ENSP00000371595:p.Gln116Lys		Somatic					p.Q116K	NM_001012416.1	NP_001012416.1	WXS	Illumina GAIIx	Phase_I	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	397	+		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)	116					A1L452	Missense_Mutation	SNP	ENST00000382160.1	37	c.346C>A	CCDS31332.1	.	.	.	.	.	.	.	.	.	.	c	1.127	-0.653508	0.03480	.	.	ENSG00000205864	ENST00000382160	T	0.08193	3.12	3.8	1.81	0.25067	.	.	.	.	.	T	0.08133	0.0203	M	0.75264	2.295	0.20638	N	0.999871	P	0.37573	0.6	B	0.33690	0.168	T	0.30119	-0.9989	9	0.05959	T	0.93	.	6.4747	0.22028	0.2088:0.5889:0.2023:0.0	.	116	Q6L8G9	KRA56_HUMAN	K	116	ENSP00000371595:Q116K	ENSP00000371595:Q116K	Q	+	1	0	KRTAP5-6	1675397	0.002000	0.14202	0.173000	0.22940	0.034000	0.12701	0.345000	0.19979	0.098000	0.17522	0.418000	0.28097	CAG		0.577	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			6	191	6	191	---	---	---	---	A	1718821	C	A	1718821	3	1	158	1	0	0	0	0	1	0	0	0	8565	595	21	1	348	1	KRTAP5-6	11	1718821	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		1718821	133287695	177	7242										
OR10A6	390093	broad.mit.edu	37	chr11	7950138	7950138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaagccacaaagagctgcccCtggagctcaggatagttaga	11	10	1	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.chr11:7950138C>A	ENST00000309838.2	-	1	71	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	24						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)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCCCCTGGAGCTCAG	0.433																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(70-72)caG>caT		olfactory receptor, family 10, subfamily A, member 6							64	67	66					11																	7950138		2201	4295	6496	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950138C>A	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.72G>T	11.37:g.7950138C>A	ENSP00000312470:p.Gln24His		Somatic					p.Q24H	NM_001004461.1	NP_001004461.1	WXS	Illumina GAIIx	Phase_I	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	71	-			24					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.72G>T	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035266	0.19590	.	.	ENSG00000175393	ENST00000309838	T	0.00601	6.29	4.4	-4.45	0.03546	.	0.170367	0.27384	N	0.019608	T	0.01124	0.0037	M	0.74647	2.275	0.09310	N	0.999999	D	0.60160	0.987	P	0.57204	0.815	T	0.35773	-0.9775	10	0.66056	D	0.02	.	4.1845	0.10392	0.2409:0.2686:0.0:0.4905	.	24	Q8NH74	O10A6_HUMAN	H	24	ENSP00000312470:Q24H	ENSP00000312470:Q24H	Q	-	3	2	OR10A6	7906714	0.000000	0.05858	0.918000	0.36340	0.006000	0.05464	-1.049000	0.03514	-0.547000	0.06207	-0.827000	0.03088	CAG		0.433	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		5	73	5	73	---	---	---	---	A	7950138	C	A	7950138	3	1	158	1	0	0	0	0	1	0	0	0	10894	680	24	1	875	1	OR10A6	11	7950138	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	6231317	7950138	127056378	178	7243										
RIC3	79608	broad.mit.edu	37	chr11	8159831	8159831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcacttactaattttcctgtGggtgtttccaggcatggcag	11	9	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.chr11:8159831G>T	ENST00000309737.6	-	3	414	c.415C>A	c.(415-417)Cac>Aac	p.H139N	RIC3_ENST00000343202.4_Missense_Mutation_p.H139N|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000335425.7_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	139					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)		p.H139N(1)		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)		ATTTTCCTGTGGGTGTTTCCA	0.433																																						ENST00000343202.4																			1	Substitution - Missense(1)	p.H139N(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(415-417)Cac>Aac		RIC3 acetylcholine receptor chaperone							285	277	280					11																	8159831		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8159831G>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.415C>A	11.37:g.8159831G>T	ENSP00000308820:p.His139Asn		Somatic				RIC3_ENST00000309737.6_Missense_Mutation_p.H139N|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000335425.7_Intron	p.H139N	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	WXS	Illumina GAIIx	Phase_I	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	480	-			139					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.415C>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489668	0.26686	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.78	3.74	0.42951	.	0.393919	0.26546	N	0.023777	T	0.21186	0.0510	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.25169	0.002;0.119;0.001;0.001	B;B;B;B	0.17722	0.003;0.019;0.001;0.001	T	0.04961	-1.0915	10	0.19590	T	0.45	.	8.6332	0.33933	0.0857:0.0:0.7066:0.2076	.	139;139;139;139	B7Z1U4;B0B1U0;Q7Z5B4;Q7Z5B4-5	.;.;RIC3_HUMAN;.	N	139;139;139;90;139;139	ENSP00000344904:H139N;ENSP00000308820:H139N;ENSP00000443871:H90N;ENSP00000395320:H139N;ENSP00000431658:H139N	ENSP00000308820:H139N	H	-	1	0	RIC3	8116407	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.421000	0.44688	1.453000	0.47775	0.609000	0.83330	CAC		0.433	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		7	310	7	310	---	---	---	---	T	8159831	G	T	8159831	3	4	158	1	0	0	0	0	1	0	0	0	13354	1348	47	1	707	1	RIC3	11	8159831	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	209693	8159831	126846685	179	7244										
SBF2	81846	broad.mit.edu	37	chr11	9878189	9878189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttgctgagttgacttgctcaGggtaggccaaaggcgtagtt	14	7	1	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.chr11:9878189G>T	ENST00000256190.8	-	19	2316	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	727					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)		GACTTGCTCAGGGTAGGCCAA	0.463																																						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.(2179-2181)Ctg>Atg		SET binding factor 2							259	237	244					11																	9878189		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9878189G>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.2179C>A	11.37:g.9878189G>T	ENSP00000256190:p.Leu727Met		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.L727M	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	19	2316	-			727					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2179C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.095688	0.76870	.	.	ENSG00000133812	ENST00000256190	T	0.47177	0.85	5.25	5.25	0.73442	.	0.376057	0.27500	N	0.019090	T	0.57242	0.2040	L	0.41573	1.285	0.80722	D	1	P	0.51240	0.943	P	0.59221	0.854	T	0.47420	-0.9119	10	0.25106	T	0.35	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	727	Q86WG5	MTMRD_HUMAN	M	727	ENSP00000256190:L727M	ENSP00000256190:L727M	L	-	1	2	SBF2	9834765	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.675000	0.74493	2.615000	0.88500	0.457000	0.33378	CTG		0.463	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		8	301	8	301	---	---	---	---	T	9878189	G	T	9878189	3	4	158	1	0	0	0	0	1	0	0	0	13859	991	35	1	3458	1	SBF2	11	9878189	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1718358	9878189	125128327	180	7245										
C11orf41	25758	broad.mit.edu	37	chr11	33564582	33564582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcctttctggggcggttccCgcatcaccatcaactgggac	10	14	3	0	rs376968439		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.chr11:33564582C>A	ENST00000321505.4	+	1	762	c.582C>A	c.(580-582)ccC>ccA	p.P194P	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P			Q6ZVL6	K154L_HUMAN	KIAA1549-like	194						integral component of membrane (GO:0016021)											GGGCGGTTCCCGCATCACCAT	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(580-582)ccC>ccA		KIAA1549-like							139	138	138					11																	33564582		2019	4162	6181	SO:0001819	synonymous_variant	25758							g.chr11:33564582C>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.582C>A	11.37:g.33564582C>A			Somatic	OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P	p.P194P			WXS	Illumina GAIIx	Phase_I					1	762	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.582C>A	CCDS44565.2																																																																																				0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		6	192	6	192	---	---	---	---	A	33564582	C	A	33564582	2	1	158	1	0	0	0	0	0	0	0	1	1640	639	23	1		1	C11orf41	11	33564582	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	23686393	33564582	101441934	181	7246										
EXT2	2132	broad.mit.edu	37	chr11	44165856	44165856	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctaatcaccaaatgaactcCctgatctggcctagggaaca	8	12	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.chr11:44165856C>A	ENST00000343631.3	+	7	1302				EXT2_ENST00000358681.4_Silent_p.S411S|EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2						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						AAATGAACTCCCTGATCTGGC	0.478			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000358681.4			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.(1231-1233)tcC>tcA		exostosin glycosyltransferase 2							196	183	187					11																	44165856		876	1990	2866	SO:0001627	intron_variant	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.chr11:44165856C>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.1173+14168C>A	11.37:g.44165856C>A			Somatic				EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron	p.S411S	NM_001178083.1	NP_001171554.1	WXS	Illumina GAIIx	Phase_I	Q93063	EXT2_HUMAN			8	1399	+			405					B2R5Z6|C9JU51|J3KPT2|O15288	Silent	SNP	ENST00000343631.3	37	c.1233C>A	CCDS7908.1																																																																																				0.478	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		7	136	7	136	---	---	---	---	A	44165856	C	A	44165856	1	1	158	0	1	0	0	0	0	0	0	0	5324	610	22	1		1	EXT2	11	44165856	Intron	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10601274	44165856	90840660	182	7247										
MTCH2	23788	broad.mit.edu	37	chr11	47657103	47657103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cagctccaacatacctcaccCttgtcactctcctggtaatg	5	16	3	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.chr11:47657103C>A	ENST00000302503.3	-	4	457	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MTCH2_ENST00000542981.1_De_novo_Start_OutOfFrame	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	100					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATACCTCACCCTTGTCACTCT	0.403																																						ENST00000542981.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11								mitochondrial carrier 2							196	160	172					11																	47657103		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47657103C>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.300G>T	11.37:g.47657103C>A	ENSP00000303222:p.Lys100Asn		Somatic				MTCH2_ENST00000302503.3_Missense_Mutation_p.K100N				WXS	Illumina GAIIx	Phase_I	Q9Y6C9	MTCH2_HUMAN			0	368	-								B2R7L8	Translation_Start_Site	SNP	ENST00000302503.3	37		CCDS7943.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391146	0.25118	.	.	ENSG00000109919	ENST00000302503;ENST00000530558	T	0.50001	0.76	4.76	2.27	0.28462	Mitochondrial carrier domain (2);	0.430984	0.26338	N	0.024942	T	0.23171	0.0560	N	0.17082	0.46	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.04708	-1.0932	10	0.15066	T	0.55	.	3.2977	0.06971	0.1928:0.5422:0.0:0.265	.	100	Q9Y6C9	MTCH2_HUMAN	N	100;79	ENSP00000303222:K100N	ENSP00000303222:K100N	K	-	3	2	MTCH2	47613679	0.218000	0.23608	0.547000	0.28179	0.876000	0.50452	0.397000	0.20883	0.879000	0.35944	0.561000	0.74099	AAG		0.403	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		5	72	5	72	---	---	---	---	A	47657103	C	A	47657103	3	1	158	1	0	0	0	0	1	0	0	0	9914	680	24	1	651	1	MTCH2	11	47657103	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3491247	47657103	87349413	183	7248										
CD6	923	broad.mit.edu	37	chr11	60785403	60785403	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aagctgcctccatggaacccCcaggtgttttcttcagagag	10	12	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.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000346437.4_Silent_p.P512P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					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						CATGGAACCCCCAGGTGTTTT	0.582																																					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.(1753-1755)ccC>ccA		CD6 molecule							65	69	67					11																	60785403		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785403C>A		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.1755C>A	11.37:g.60785403C>A			Somatic				CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P	p.P585P	NM_006725.4	NP_006716.3	WXS	Illumina GAIIx	Phase_I	P30203	CD6_HUMAN			11	1941	+			585					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1755C>A	CCDS7999.1																																																																																				0.582	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		6	112	6	112	---	---	---	---	A	60785403	C	A	60785403	2	1	158	1	0	0	0	0	0	0	0	1	3028	610	22	1		1	CD6	11	60785403	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	13128300	60785403	74221113	184	7249										
AHNAK	79026	broad.mit.edu	37	chr11	62287973	62287973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggccttgaacgtccacatctGggacatcaatgtccactttg	9	12	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.chr11:62287973G>T	ENST00000378024.4	-	5	14190	c.13916C>A	c.(13915-13917)cCa>cAa	p.P4639Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4639					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)				GTCCACATCTGGGACATCAAT	0.537																																						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.(13915-13917)cCa>cAa		AHNAK nucleoprotein							157	160	159					11																	62287973		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287973G>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.13916C>A	11.37:g.62287973G>T	ENSP00000367263:p.Pro4639Gln		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4639Q	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	14190	-		Melanoma(852;0.155)	4639					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13916C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688628	0.48097	.	.	ENSG00000124942	ENST00000378024	T	0.02916	4.11	5.4	5.4	0.78164	.	0.000000	0.48286	D	0.000185	T	0.29061	0.0722	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50558	-0.8814	10	0.39692	T	0.17	-8.7094	18.8465	0.92209	0.0:0.0:1.0:0.0	.	4639	Q09666	AHNK_HUMAN	Q	4639	ENSP00000367263:P4639Q	ENSP00000367263:P4639Q	P	-	2	0	AHNAK	62044549	1.000000	0.71417	0.985000	0.45067	0.154000	0.21943	7.473000	0.81007	2.537000	0.85549	0.638000	0.83543	CCA		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	314	8	314	---	---	---	---	T	62287973	G	T	62287973	3	4	158	1	0	0	0	0	1	0	0	0	414	1348	47	1	3876	1	AHNAK	11	62287973	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1502570	62287973	72718543	185	7250										
AHNAK	79026	broad.mit.edu	37	chr11	62299931	62299931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaatactgatatctcctttgGgtagagtcatatgaacatct	7	7	3	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.chr11:62299931G>T	ENST00000378024.4	-	5	2232	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	653					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)				ATCTCCTTTGGGTAGAGTCAT	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.(1957-1959)cCc>cAc		AHNAK nucleoprotein							126	126	126					11																	62299931		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299931G>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.1958C>A	11.37:g.62299931G>T	ENSP00000367263:p.Pro653His		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P653H	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2232	-		Melanoma(852;0.155)	653					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1958C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993741	0.35131	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.39	4.45	0.53987	.	.	.	.	.	T	0.40372	0.1114	H	0.97659	4.05	0.25881	N	0.983593	D	0.89917	1.0	D	0.91635	0.999	T	0.54351	-0.8307	9	0.66056	D	0.02	-3.9406	14.9036	0.70699	0.0:0.0:0.8553:0.1447	.	653	Q09666	AHNK_HUMAN	H	653	ENSP00000367263:P653H	ENSP00000367263:P653H	P	-	2	0	AHNAK	62056507	0.983000	0.35010	0.366000	0.25914	0.220000	0.24768	4.189000	0.58358	1.226000	0.43582	0.305000	0.20034	CCC		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	189	7	189	---	---	---	---	T	62299931	G	T	62299931	3	4	158	1	0	0	0	0	1	0	0	0	414	1232	43	1	15834	1	AHNAK	11	62299931	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	11958	62299931	72706585	186	7251										
SLC3A2	6520	broad.mit.edu	37	chr11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccaattttggctccaaggaaGattttgacagtctcttgcaa	8	9	1	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.chr11:62649502G>A	ENST00000377890.2	+	5	1033	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.D320N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N	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		Somatic				SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N	p.D320N			WXS	Illumina GAIIx	Phase_I	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	19	65	---	---	---	---	A	62649502	G	A	62649502	3	1	158	1	0	0	0	0	1	0	0	0	14627	942	33	2	983	2	SLC3A2	11	62649502	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	349571	62649502	72357014	187	7252										
SF1	7536	broad.mit.edu	37	chr11	64537847	64537847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgggtgttaagccgcttcccCtcgctattgtagatgggctc	12	12	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.chr11:64537847C>A	ENST00000377390.3	-	4	607	c.270G>T	c.(268-270)gaG>gaT	p.E90D	SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_De_novo_Start_OutOfFrame|SF1_ENST00000334944.5_Missense_Mutation_p.E90D	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	90					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						GCCGCTTCCCCTCGCTATTGT	0.532																																						ENST00000422298.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31								splicing factor 1							98	99	99					11																	64537847		2201	4297	6498	SO:0001583	missense	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.chr11:64537847C>A	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.270G>T	11.37:g.64537847C>A	ENSP00000366607:p.Glu90Asp		Somatic				SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000334944.5_Missense_Mutation_p.E90D|SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000377390.3_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D				WXS	Illumina GAIIx	Phase_I	Q15637	SF01_HUMAN			0	570	-								B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Translation_Start_Site	SNP	ENST00000377390.3	37		CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599695	0.28534	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.43688	0.95;0.95;0.96;0.96;0.94;0.95	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.11064	0.09	0.80722	D	1	B;B;B;B;B	0.19073	0.019;0.019;0.007;0.011;0.033	B;B;B;B;B	0.17433	0.018;0.01;0.008;0.018;0.018	T	0.14980	-1.0453	10	0.12103	T	0.63	.	10.9232	0.47178	0.0:0.9153:0.0:0.0847	.	90;90;90;90;215	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	D	215;90;90;90;90;64	ENSP00000366604:E215D;ENSP00000366607:E90D;ENSP00000227503:E90D;ENSP00000366611:E90D;ENSP00000334414:E90D;ENSP00000396793:E64D	ENSP00000227503:E90D	E	-	3	2	SF1	64294423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.764000	0.55264	2.748000	0.94277	0.462000	0.41574	GAG		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		6	108	6	108	---	---	---	---	A	64537847	C	A	64537847	3	1	158	1	0	0	0	0	1	0	0	0	14145	680	24	1	1827	1	SF1	11	64537847	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1888345	64537847	70468669	188	7253										
C11orf30	56946	broad.mit.edu	37	chr11	76169379	76169379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taatgcatctcttccagtgcCtgcagaaacaggaagcaagg	10	10	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.chr11:76169379C>A	ENST00000529032.1	+	4	398	c.398C>A	c.(397-399)cCt>cAt	p.P133H	C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	133	Interaction with BRCA2.				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						CTTCCAGTGCCTGCAGAAACA	0.423																																						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.(397-399)cCt>cAt		chromosome 11 open reading frame 30							85	83	84					11																	76169379		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76169379C>A	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.398C>A	11.37:g.76169379C>A	ENSP00000432327:p.Pro133His		Somatic				C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H	p.P133H			WXS	Illumina GAIIx	Phase_I	Q7Z589	EMSY_HUMAN			4	398	+			133			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.398C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733836	0.69189	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.64404	1.975	0.80722	D	1	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;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.997;0.999;0.997;0.997;0.997;0.99	T	0.78804	-0.2060	9	0.66056	D	0.02	-7.2132	20.1133	0.97917	0.0:1.0:0.0:0.0	.	147;147;147;133;133;133;133;133;133	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	H	133;133;133;133;147;147;133;147;133	.	ENSP00000334130:P133H	P	+	2	0	C11orf30	75847027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	CCT		0.423	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		5	79	5	79	---	---	---	---	A	76169379	C	A	76169379	3	1	158	1	0	0	0	0	1	0	0	0	1636	681	24	1	412	1	C11orf30	11	76169379	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11631532	76169379	58837137	189	7254										
PAK1	5058	broad.mit.edu	37	chr11	77051799	77051799	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acaacccacagctcatctccCacgaggtaactgcaggaata	7	14	2	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.chr11:77051799C>A	ENST00000356341.3	-	11	1539	c.1008G>T	c.(1006-1008)gtG>gtT	p.V336V	PAK1_ENST00000528203.1_Silent_p.V238V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Silent_p.V336V	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					GCTCATCTCCCACGAGGTAAC	0.468																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(1006-1008)gtG>gtT		p21 protein (Cdc42/Rac)-activated kinase 1							226	205	212					11																	77051799		2200	4292	6492	SO:0001819	synonymous_variant	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.chr11:77051799C>A	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.1008G>T	11.37:g.77051799C>A			Somatic				PAK1_ENST00000530617.1_Silent_p.V336V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Silent_p.V238V	p.V336V	NM_002576.4	NP_002567.3	WXS	Illumina GAIIx	Phase_I	Q13153	PAK1_HUMAN			11	1539	-	all_cancers(14;1.75e-18)		336			Protein kinase.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	ENST00000356341.3	37	c.1008G>T	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476256	0.26511	.	.	ENSG00000149269	ENST00000533285	.	.	.	5.81	3.96	0.45880	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50566	-0.8813	4	.	.	.	.	6.2252	0.20703	0.0:0.6356:0.1355:0.2289	.	.	.	.	W	58	.	.	G	-	1	0	PAK1	76729447	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	0.659000	0.24994	0.817000	0.34445	0.557000	0.71058	GGG		0.468	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	253	7	253	---	---	---	---	A	77051799	C	A	77051799	2	1	158	1	0	0	0	0	0	0	0	1	11399	581	21	1		1	PAK1	11	77051799	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	882420	77051799	57954717	190	7255										
CCDC81	60494	broad.mit.edu	37	chr11	86086224	86086224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agatgttggatacgatcgccCgtgccctgcaggacctgggc	14	12	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.chr11:86086224C>A	ENST00000445632.2	+	1	291	c.19C>A	c.(19-21)Cgt>Agt	p.R7S	CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000278487.3_De_novo_Start_OutOfFrame	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	7										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)				TACGATCGCCCGTGCCCTGCA	0.547																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20								coiled-coil domain containing 81							132	137	135					11																	86086224		2202	4299	6501	SO:0001583	missense	60494							g.chr11:86086224C>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.19C>A	11.37:g.86086224C>A	ENSP00000415528:p.Arg7Ser		Somatic				CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000445632.2_Missense_Mutation_p.R7S				WXS	Illumina GAIIx	Phase_I	Q6ZN84	CCD81_HUMAN			0	447	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)						A0AVL7|Q53FW3|Q9H5E5	Translation_Start_Site	SNP	ENST00000445632.2	37		CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316064	0.23908	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T	0.42513	0.99;0.97	3.54	3.54	0.40534	.	0.534254	0.15421	N	0.263242	T	0.24661	0.0598	N	0.14661	0.345	0.43039	D	0.994621	B;B	0.26512	0.005;0.151	B;B	0.25987	0.01;0.065	T	0.06698	-1.0812	9	.	.	.	-3.9393	10.9129	0.47118	0.0:1.0:0.0:0.0	.	7;7	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	S	7	ENSP00000346800:R7S;ENSP00000415528:R7S	.	R	+	1	0	CCDC81	85763872	0.000000	0.05858	0.018000	0.16275	0.009000	0.06853	0.453000	0.21811	2.291000	0.77112	0.655000	0.94253	CGT		0.547	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		7	234	7	234	---	---	---	---	A	86086224	C	A	86086224	3	1	158	1	0	0	0	0	1	0	0	0	2855	652	23	1	21	1	CCDC81	11	86086224	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9034425	86086224	48920292	191	7256										
MMP10	4319	broad.mit.edu	37	chr11	102647391	102647391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcttgcgaaaggcggaactGggcgagctctgtgaatgagt	15	7	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.chr11:102647391G>T	ENST00000279441.4	-	5	775	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	247					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	AGGCGGAACTGGGCGAGCTCT	0.498																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(739-741)Cag>Aag		matrix metallopeptidase 10 (stromelysin 2)							140	128	132					11																	102647391		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647391G>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.739C>A	11.37:g.102647391G>T	ENSP00000279441:p.Gln247Lys		Somatic					p.Q247K	NM_002425.2	NP_002416.1	WXS	Illumina GAIIx	Phase_I	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	775	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	247					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.739C>A	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	g	0.183	-1.060095	0.01950	.	.	ENSG00000166670	ENST00000279441	T	0.15952	2.38	4.31	-1.9	0.07665	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.593300	0.04077	N	0.308953	T	0.06142	0.0159	N	0.01473	-0.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	10	0.08179	T	0.78	.	10.9144	0.47126	0.0:0.1057:0.3005:0.5938	.	247	P09238	MMP10_HUMAN	K	247	ENSP00000279441:Q247K	ENSP00000279441:Q247K	Q	-	1	0	MMP10	102152601	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.878000	0.04192	-0.124000	0.11724	0.655000	0.94253	CAG		0.498	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			7	106	7	106	---	---	---	---	T	102647391	G	T	102647391	3	4	158	1	0	0	0	0	1	0	0	0	9649	1357	47	1	715	1	MMP10	11	102647391	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	16561167	102647391	32359125	192	7257										
ACAT1	38	broad.mit.edu	37	chr11	108017036	108017036	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaaatgttggagattgatccCcaaaaagtgaatatcaatgg	9	5	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.chr11:108017036C>A	ENST00000265838.4	+	11	1204	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	371					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)	AGATTGATCCCCAAAAAGTGA	0.363																																						ENST00000265838.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(1111-1113)ccC>ccA		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						108	122	117					11																	108017036		2201	4298	6499	SO:0001819	synonymous_variant	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.chr11:108017036C>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.1113C>A	11.37:g.108017036C>A			Somatic					p.P371P	NM_000019.3	NP_000010.1	WXS	Illumina GAIIx	Phase_I	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)	11	1204	+		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)	371					B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	c.1113C>A	CCDS8339.1																																																																																				0.363	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		7	163	7	163	---	---	---	---	A	108017036	C	A	108017036	2	1	158	1	0	0	0	0	0	0	0	1	121	610	22	1		1	ACAT1	11	108017036	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5369645	108017036	26989480	193	7258										
SIK2	23235	broad.mit.edu	37	chr11	111591264	111591264	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggactctgagtatgatatgGggtctgttcagagggacctg	15	6	3	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.chr11:111591264G>T	ENST00000304987.3	+	11	1731	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	520					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						GTATGATATGGGGTCTGTTCA	0.453																																						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.(1558-1560)Ggg>Tgg		salt-inducible kinase 2							114	114	114					11																	111591264		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.chr11:111591264G>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.1558G>T	11.37:g.111591264G>T	ENSP00000305976:p.Gly520Trp		Somatic				SIK2_ENST00000533868.1_3'UTR	p.G520W	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			11	1731	+			520					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1558G>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737081	0.89482	.	.	ENSG00000170145	ENST00000304987	T	0.74315	-0.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84835	0.5560	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84776	0.0770	10	0.62326	D	0.03	.	19.2635	0.93977	0.0:0.0:1.0:0.0	.	520	Q9H0K1	SIK2_HUMAN	W	520	ENSP00000305976:G520W	ENSP00000305976:G520W	G	+	1	0	SIK2	111096474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.882000	0.98803	0.655000	0.94253	GGG		0.453	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		6	92	6	92	---	---	---	---	T	111591264	G	T	111591264	3	4	158	1	0	0	0	0	1	0	0	0	14318	1232	43	1	1600	1	SIK2	11	111591264	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	3574228	111591264	23415252	194	7259										
DSCAML1	57453	broad.mit.edu	37	chr11	117310573	117310573	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acagcaggggctggatctccCactgaattgcaaggcagccg	13	12	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.chr11:117310573C>A	ENST00000321322.6	-	22	4123	c.4122G>T	c.(4120-4122)gtG>gtT	p.V1374V	DSCAML1_ENST00000527706.1_Silent_p.V1104V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1314	Ig-like C2-type 10.				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)		CTGGATCTCCCACTGAATTGC	0.562																																						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.(4120-4122)gtG>gtT		Down syndrome cell adhesion molecule like 1							162	148	153					11																	117310573		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.chr11:117310573C>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.4122G>T	11.37:g.117310573C>A			Somatic				DSCAML1_ENST00000527706.1_Silent_p.V1104V	p.V1374V	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	22	4123	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1314			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4122G>T	CCDS8384.1																																																																																				0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	183	7	183	---	---	---	---	A	117310573	C	A	117310573	2	1	158	1	0	0	0	0	0	0	0	1	4769	581	21	1		1	DSCAML1	11	117310573	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5719309	117310573	17695943	195	7260										
OAF	220323	broad.mit.edu	37	chr11	120096400	120096400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcttccgggccctgatcctgGgggagctggagaaggggcag	18	10	1	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.chr11:120096400G>T	ENST00000328965.4	+	2	775	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	88						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGATCCTGGGGGAGCTGGA	0.627																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(262-264)Ggg>Tgg		OAF homolog (Drosophila)							89	85	86					11																	120096400		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120096400G>T	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.262G>T	11.37:g.120096400G>T	ENSP00000332613:p.Gly88Trp		Somatic				OAF_ENST00000531220.1_Intron	p.G88W	NM_178507.2	NP_848602.1	WXS	Illumina GAIIx	Phase_I	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	2	775	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	88						Missense_Mutation	SNP	ENST00000328965.4	37	c.262G>T	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773161	0.90108	.	.	ENSG00000184232	ENST00000328965	T	0.55760	0.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79376	-0.1829	10	0.87932	D	0	-37.7341	18.6469	0.91413	0.0:0.0:1.0:0.0	.	88	Q86UD1	OAF_HUMAN	W	88	ENSP00000332613:G88W	ENSP00000332613:G88W	G	+	1	0	OAF	119601610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.392000	0.81423	0.561000	0.74099	GGG		0.627	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		5	98	5	98	---	---	---	---	T	120096400	G	T	120096400	3	4	158	1	0	0	0	0	1	0	0	0	10798	1232	43	1	268	1	OAF	11	120096400	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2785827	120096400	14910116	196	7261										
GRIK4	2900	broad.mit.edu	37	chr11	120776122	120776122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccgattcaactacaagatcCgcctggttggggatggcgtg	13	10	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.chr11:120776122C>A	ENST00000527524.2	+	13	1683	c.1396C>A	c.(1396-1398)Cgc>Agc	p.R466S	GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	466					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)		CTACAAGATCCGCCTGGTTGG	0.592																																						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.(1396-1398)Cgc>Agc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						153	151	152					11																	120776122		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.chr11:120776122C>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.1396C>A	11.37:g.120776122C>A	ENSP00000435648:p.Arg466Ser		Somatic				GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	p.R466S	NM_001282470.1	NP_001269399.1	WXS	Illumina GAIIx	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1683	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	466					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1396C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471305	0.63625	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11277	2.79;2.79	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.109261	0.64402	D	0.000005	T	0.17916	0.0430	L	0.51422	1.61	0.44890	D	0.997902	B;B	0.29301	0.241;0.14	B;B	0.38264	0.269;0.152	T	0.02868	-1.1100	10	0.34782	T	0.22	.	19.323	0.94250	0.0:1.0:0.0:0.0	.	466;466	A6H8K8;Q16099	.;GRIK4_HUMAN	S	466	ENSP00000435648:R466S;ENSP00000404063:R466S	ENSP00000404063:R466S	R	+	1	0	GRIK4	120281332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.810000	0.47979	2.561000	0.86390	0.655000	0.94253	CGC		0.592	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		6	193	6	193	---	---	---	---	A	120776122	C	A	120776122	3	1	158	1	0	0	0	0	1	0	0	0	6776	652	23	1	1438	1	GRIK4	11	120776122	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	679722	120776122	14230394	197	7262										
PATE1	160065	broad.mit.edu	37	chr11	125617637	125617637	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gatgtgccacctccagttccCaggagaaaagtgctccagag	11	12	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.chr11:125617637C>A	ENST00000305738.5	+	4	179	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	56						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CTCCAGTTCCCAGGAGAAAAG	0.478																																						ENST00000305738.5																			0				large_intestine(1)|lung(5)	6						c.(166-168)cCa>cAa		prostate and testis expressed 1							102	94	97					11																	125617637		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125617637C>A	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"PATE family"	24664	protein-coding gene	gene with protein product	"expressed in prostate and testis"	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.167C>A	11.37:g.125617637C>A	ENSP00000307164:p.Pro56Gln		Somatic				PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	p.P56Q	NM_138294.2	NP_612151.1	WXS	Illumina GAIIx	Phase_I	Q8WXA2	PATE1_HUMAN			4	179	+			56					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.167C>A	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.204918	0.22205	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.31769	1.48;1.48	4.19	4.19	0.49359	.	0.000000	0.37053	N	0.002279	T	0.34687	0.0906	N	0.20685	0.6	0.33530	D	0.593506	D;D	0.71674	0.998;0.998	D;D	0.69479	0.964;0.964	T	0.23797	-1.0178	10	0.21014	T	0.42	0.0329	12.3119	0.54933	0.0:1.0:0.0:0.0	.	44;56	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	Q	56;44	ENSP00000307164:P56Q;ENSP00000396056:P44Q	ENSP00000307164:P56Q	P	+	2	0	PATE1	125122847	0.998000	0.40836	0.857000	0.33713	0.037000	0.13140	2.595000	0.46197	2.617000	0.88574	0.655000	0.94253	CCA		0.478	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		6	86	6	86	---	---	---	---	A	125617637	C	A	125617637	3	1	158	1	0	0	0	0	1	0	0	0	11473	594	21	1	181	1	PATE1	11	125617637	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4841515	125617637	9388879	198	7263										
SRPR	6734	broad.mit.edu	37	chr11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aacatgccacccagtgttccCttggtcgcactgcagggaca	10	14	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.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(940-942)aaG>aaT		signal recognition particle receptor (docking protein)							172	163	166					11																	126135967		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135967C>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.942G>T	11.37:g.126135967C>A	ENSP00000328023:p.Lys314Asn		Somatic				SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	p.K314N	NM_003139.3	NP_003130.2	WXS	Illumina GAIIx	Phase_I	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1096	-	all_hematologic(175;0.145)		314					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.942G>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920929	0.33908	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	4.34	0.51931	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.044190	0.85682	D	0.000000	T	0.52549	0.1741	L	0.48986	1.54	0.54753	D	0.999981	B;B	0.19935	0.01;0.04	B;B	0.18561	0.005;0.022	T	0.46665	-0.9175	9	0.20519	T	0.43	-15.7727	10.5179	0.44900	0.0:0.7979:0.0:0.2021	.	286;314	E9PJS4;P08240	.;SRPR_HUMAN	N	314;286	.	ENSP00000328023:K314N	K	-	3	2	SRPR	125641177	0.998000	0.40836	1.000000	0.80357	0.740000	0.42216	0.852000	0.27764	1.461000	0.47929	-0.136000	0.14681	AAG		0.493	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		7	188	7	188	---	---	---	---	A	126135967	C	A	126135967	3	1	158	1	0	0	0	0	1	0	0	0	15161	680	24	1	1002	1	SRPR	11	126135967	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	518330	126135967	8870549	199	7264										
APLP2	334	broad.mit.edu	37	chr11	130013260	130013260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggttgatccaatgctcaccCcagaagagcgtcacctgaac	9	13	2	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.chr11:130013260C>A	ENST00000263574.5	+	18	2281	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T|APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	737					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)		AATGCTCACCCCAGAAGAGCG	0.542																																						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.(2209-2211)Cca>Aca		amyloid beta (A4) precursor-like protein 2							143	124	130					11																	130013260		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.chr11:130013260C>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.2209C>A	11.37:g.130013260C>A	ENSP00000263574:p.Pro737Thr		Somatic				APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T|APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T	p.P737T	NM_001642.2	NP_001633.1	WXS	Illumina GAIIx	Phase_I	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	18	2281	+	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)	737					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.2209C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763285	0.89932	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.8	5.8	0.92144	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.982;0.997;1.0;1.0;0.999;0.966	D;D;D;D;D;D;P	0.97110	0.999;0.927;0.991;1.0;1.0;0.991;0.772	D	0.97794	1.0240	9	.	.	.	-9.0121	19.0512	0.93046	0.0:1.0:0.0:0.0	.	525;737;681;496;663;669;725	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	T	669;525;737;496;725;735;632	ENSP00000435914:P669T;ENSP00000443728:P525T;ENSP00000263574:P737T;ENSP00000263575:P496T;ENSP00000345444:P725T;ENSP00000278756:P735T;ENSP00000444122:P632T	.	P	+	1	0	APLP2	129518470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.735000	0.93741	0.655000	0.94253	CCA		0.542	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		6	101	6	101	---	---	---	---	A	130013260	C	A	130013260	3	1	158	1	0	0	0	0	1	0	0	0	779	623	22	1	2279	1	APLP2	11	130013260	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3877293	130013260	4993256	200	7265										
VWF	7450	broad.mit.edu	37	chr12	6204639	6204639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacccaccttctgcatttccCcagaggagatgttgcatgag	9	13	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.chr12:6204639C>A	ENST00000261405.5	-	6	898	c.644G>T	c.(643-645)gGg>gTg	p.G215V	RN7SL69P_ENST00000468423.2_RNA|VWF_ENST00000572068.1_Missense_Mutation_p.G252V	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	215	VWFD 1. {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)	CTGCATTTCCCCAGAGGAGAT	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.(643-645)gGg>gTg		von Willebrand factor	Antihemophilic Factor(DB00025)						154	151	152					12																	6204639		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.chr12:6204639C>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.644G>T	12.37:g.6204639C>A	ENSP00000261405:p.Gly215Val		Somatic				VWF_ENST00000572068.1_Missense_Mutation_p.G252V	p.G215V	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			6	898	-			215			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.644G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738065	0.15574	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.85	-2.88	0.05682	von Willebrand factor, type D domain (1);	0.891435	0.09284	N	0.823298	T	0.34687	0.0906	L	0.27053	0.805	0.35253	D	0.778884	B;B;D	0.89917	0.009;0.142;1.0	B;B;D	0.69307	0.022;0.022;0.963	T	0.55679	-0.8103	10	0.30854	T	0.27	.	2.4222	0.04451	0.1442:0.1522:0.1438:0.5598	.	215;252;215	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	V	215	ENSP00000261405:G215V	ENSP00000261405:G215V	G	-	2	0	VWF	6074900	0.000000	0.05858	0.486000	0.27416	0.257000	0.26127	-0.385000	0.07379	-0.160000	0.11002	0.462000	0.41574	GGG		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	111	7	111	---	---	---	---	A	6204639	C	A	6204639	3	1	158	1	0	0	0	0	1	0	0	0	17243	623	22	1	7985	1	VWF	12	6204639	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		6204639	127647256	201	7266										
NCAPD2	9918	broad.mit.edu	37	chr12	6637434	6637434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taacctcatggttgccactgGggatctggccatccgctttc	10	13	2	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.chr12:6637434G>T	ENST00000315579.5	+	25	4038	c.3239G>T	c.(3238-3240)gGg>gTg	p.G1080V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1080					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						GTTGCCACTGGGGATCTGGCC	0.557																																						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.(3238-3240)gGg>gTg		non-SMC condensin I complex, subunit D2							223	227	225					12																	6637434		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637434G>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.3239G>T	12.37:g.6637434G>T	ENSP00000325017:p.Gly1080Val		Somatic				NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	p.G1080V	NM_014865.3	NP_055680.3	WXS	Illumina GAIIx	Phase_I	Q15021	CND1_HUMAN			25	4038	+			1080					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3239G>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998721	0.93227	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.24538	1.85;1.85	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.049002	0.85682	D	0.000000	T	0.61702	0.2368	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.66184	-0.5987	10	0.52906	T	0.07	-31.9423	20.0926	0.97825	0.0:0.0:1.0:0.0	.	1035;1041;1080	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	1080;1035	ENSP00000325017:G1080V;ENSP00000444417:G1035V	ENSP00000325017:G1080V	G	+	2	0	NCAPD2	6507695	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.415000	0.97375	2.745000	0.94114	0.561000	0.74099	GGG		0.557	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		7	199	7	199	---	---	---	---	T	6637434	G	T	6637434	3	4	158	1	0	0	0	0	1	0	0	0	10205	1232	43	1	3333	1	NCAPD2	12	6637434	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	432795	6637434	127214461	202	7267										
CLSTN3	9746	broad.mit.edu	37	chr12	7293956	7293956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgacaatggcctcatccaccCaccccgaagggagcctgctc	9	17	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.chr12:7293956C>A	ENST00000266546.6	+	9	1892	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	CLSTN3_ENST00000537408.1_Missense_Mutation_p.P493Q	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	481					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						CTCATCCACCCACCCCGAAGG	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1477-1479)cCa>cAa		calsyntenin 3							237	185	202					12																	7293956		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293956C>A	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.1442C>A	12.37:g.7293956C>A	ENSP00000266546:p.Pro481Gln		Somatic	OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P481Q	p.P493Q			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			8	2016	+			481					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1478C>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641578	0.87859	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.02301	4.35;4.35	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.110120	0.64402	D	0.000006	T	0.11922	0.0290	M	0.68317	2.08	0.58432	D	0.999996	D;D	0.63880	0.97;0.993	P;D	0.71184	0.801;0.972	T	0.00172	-1.1958	10	0.72032	D	0.01	-23.2231	18.1243	0.89581	0.0:1.0:0.0:0.0	.	493;481	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	Q	481;493	ENSP00000266546:P481Q;ENSP00000440679:P493Q	ENSP00000266546:P481Q	P	+	2	0	CLSTN3	7185223	1.000000	0.71417	0.951000	0.38953	0.835000	0.47333	5.757000	0.68766	2.512000	0.84698	0.455000	0.32223	CCA		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	155	6	155	---	---	---	---	A	7293956	C	A	7293956	3	1	158	1	0	0	0	0	1	0	0	0	3563	594	21	1	1476	1	CLSTN3	12	7293956	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	656522	7293956	126557939	203	7268										
ABCC9	10060	broad.mit.edu	37	chr12	21965074	21965074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	taatttggaaatgtctatccCatcaatgacaatttttcctg	5	8	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.chr12:21965074C>A	ENST00000261201.4	-	34	4119	c.4120G>T	c.(4120-4122)Ggg>Tgg	p.G1374W	ABCC9_ENST00000261200.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2. {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)	ATGTCTATCCCATCAATGACA	0.328																																						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.(4120-4122)Ggg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						191	170	177					12																	21965074		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.chr12:21965074C>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.4120G>T	12.37:g.21965074C>A	ENSP00000261201:p.Gly1374Trp		Somatic				ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	p.G1374W	NM_020297.2	NP_064693.2	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			34	4119	-			1374			ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.4120G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912084	0.72983	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.09	5.09	0.68999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98748	1.0719	10	0.87932	D	0	-14.0312	18.6957	0.91600	0.0:1.0:0.0:0.0	.	1374;1374	O60706;O60706-2	ABCC9_HUMAN;.	W	1374;1001;1374;1338	ENSP00000261200:G1374W;ENSP00000440521:G1001W;ENSP00000261201:G1374W;ENSP00000261202:G1338W	ENSP00000261200:G1374W	G	-	1	0	ABCC9	21856341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.353000	0.79414	2.665000	0.90641	0.650000	0.86243	GGG		0.328	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	111	5	111	---	---	---	---	A	21965074	C	A	21965074	3	1	158	1	0	0	0	0	1	0	0	0	59	594	21	1	691	1	ABCC9	12	21965074	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	14671118	21965074	111886821	204	7269										
NELL2	4753	broad.mit.edu	37	chr12	45269642	45269642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agaatgttctcagtaagaccCgagactccatggtgcggatc	11	10	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.chr12:45269642C>A	ENST00000429094.2	-	1	515	c.11G>T	c.(10-12)cGg>cTg	p.R4L	NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000395487.2_5'Flank	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R4Q(1)|p.R54Q(1)		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)		CAGTAAGACCCGAGACTCCAT	0.517																																						ENST00000429094.2																			2	Substitution - Missense(2)	p.R4Q(1)|p.R54Q(1)	urinary_tract(2)	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.(10-12)cGg>cTg		NEL-like 2 (chicken)							93	99	97					12																	45269642		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45269642C>A	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.11G>T	12.37:g.45269642C>A	ENSP00000390680:p.Arg4Leu		Somatic				NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L	p.R4L	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	1	515	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	4					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.11G>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543605	0.45280	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	D;D;D;D;T;T;T	0.82803	-1.55;-1.55;-1.52;-1.65;2.66;1.48;-1.28	4.95	1.53	0.23141	.	0.554869	0.18174	N	0.149358	T	0.62221	0.2410	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	0.49579	-0.8925	10	0.30854	T	0.27	-0.3878	6.3421	0.21328	0.3292:0.4304:0.2404:0.0	.	27;54;4;4	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	L	4;4;27;54;4;4;4	ENSP00000390680:R4L;ENSP00000394612:R4L;ENSP00000327988:R27L;ENSP00000416341:R54L;ENSP00000447085:R4L;ENSP00000448635:R4L;ENSP00000446961:R4L	ENSP00000327988:R27L	R	-	2	0	NELL2	43555909	0.650000	0.27331	0.996000	0.52242	0.944000	0.59088	0.571000	0.23669	0.528000	0.28580	0.650000	0.86243	CGG		0.517	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		5	126	5	126	---	---	---	---	A	45269642	C	A	45269642	3	1	158	1	0	0	0	0	1	0	0	0	10334	652	23	1	2575	1	NELL2	12	45269642	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	23304568	45269642	88582253	205	7270										
GPR84	53831	broad.mit.edu	37	chr12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcccacttctgatgagtcccCttccagggtctgggtggtgg	13	12	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.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						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						GATGAGTCCCCTTCCAGGGTC	0.547																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(805-807)Ggg>Tgg		G protein-coupled receptor 84							135	140	138					12																	54756831		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756831C>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.805G>T	12.37:g.54756831C>A	ENSP00000450310:p.Gly269Trp		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA	p.G269W			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	1440	-			269					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.805G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823102	0.16678	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61980	0.06;0.06	4.88	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.528223	0.18343	N	0.144124	T	0.36468	0.0968	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.26677	-1.0096	10	0.54805	T	0.06	-3.3035	6.7169	0.23308	0.147:0.683:0.0:0.1699	.	269	Q9NQS5	GPR84_HUMAN	W	269	ENSP00000267015:G269W;ENSP00000450310:G269W	ENSP00000267015:G269W	G	-	1	0	GPR84	53043098	0.001000	0.12720	0.597000	0.28824	0.979000	0.70002	0.611000	0.24268	0.566000	0.29273	0.561000	0.74099	GGG		0.547	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	225	7	225	---	---	---	---	A	54756831	C	A	54756831	3	1	158	1	0	0	0	0	1	0	0	0	6714	681	24	1	389	1	GPR84	12	54756831	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9487189	54756831	79095064	206	7271										
BAZ2A	11176	broad.mit.edu	37	chr12	56995493	56995493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	catcaggctctggctcctccGggggttgtgatggagctggg	17	10	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.chr12:56995493G>T	ENST00000551812.1	-	20	4107	c.3914C>A	c.(3913-3915)cCg>cAg	p.P1305Q	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1273Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1305	Pro-rich.				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						TGGCTCCTCCGGGGGTTGTGA	0.582																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(3817-3819)cCg>cAg		bromodomain adjacent to zinc finger domain, 2A							149	156	154					12																	56995493		2028	4189	6217	SO:0001583	missense	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.chr12:56995493G>T	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.3914C>A	12.37:g.56995493G>T	ENSP00000446880:p.Pro1305Gln		Somatic				BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1305Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q	p.P1273Q			WXS	Illumina GAIIx	Phase_I	Q9UIF9	BAZ2A_HUMAN			21	4017	-			1305			Glu-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.3818C>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	3.586	-0.084549	0.07097	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.70282	-0.25;-0.24;-0.26;-0.47;-0.28	5.21	-7.26	0.01466	.	0.805199	0.11266	N	0.582084	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	P;P;P;P	0.40794	0.729;0.729;0.64;0.729	B;B;B;B	0.36418	0.224;0.224;0.109;0.224	T	0.45818	-0.9235	10	0.13470	T	0.59	.	12.2518	0.54601	0.1598:0.1224:0.7179:0.0	.	1303;1305;1305;1278	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1275;1273;1305;241;1303	ENSP00000368754:P1275Q;ENSP00000179765:P1273Q;ENSP00000446880:P1305Q;ENSP00000448760:P241Q;ENSP00000447941:P1303Q	ENSP00000179765:P1273Q	P	-	2	0	BAZ2A	55281760	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-0.592000	0.05747	-1.090000	0.03069	-0.175000	0.13238	CCG		0.582	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		6	213	6	213	---	---	---	---	T	56995493	G	T	56995493	3	4	158	1	0	0	0	0	1	0	0	0	1331	1116	39	1	1843	1	BAZ2A	12	56995493	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2238662	56995493	76856402	207	7272										
NAB2	4665	broad.mit.edu	37	chr12	57485187	57485187	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	caaccagtgcctgctgttccCgtctccagcatcccgctctt	7	18	2	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.chr12:57485187C>A	ENST00000300131.3	+	2	741	c.363C>A	c.(361-363)ccC>ccA	p.P121P	NAB2_ENST00000357680.4_Silent_p.P121P|NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	121					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)	p.P121P(2)		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						CTGCTGTTCCCGTCTCCAGCA	0.617																																						ENST00000300131.3																			2	Substitution - coding silent(2)	p.P121P(2)	large_intestine(1)|lung(1)	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.(361-363)ccC>ccA		NGFI-A binding protein 2 (EGR1 binding protein 2)							75	82	80					12																	57485187		2203	4300	6503	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485187C>A	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.363C>A	12.37:g.57485187C>A			Somatic				NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P121P	p.P121P	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			2	741	+			121					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.363C>A	CCDS8930.1																																																																																				0.617	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	158	6	158	---	---	---	---	A	57485187	C	A	57485187	2	1	158	1	0	0	0	0	0	0	0	1	10132	639	23	1		1	NAB2	12	57485187	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	489694	57485187	76366708	208	7273										
MARS	4141	broad.mit.edu	37	chr12	57881902	57881902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gttcgtgagtgatggcgtccCgggttgcttgccggtgctgg	18	9	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.chr12:57881902C>A	ENST00000262027.5	+	1	163	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	10					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GATGGCGTCCCGGGTTGCTTG	0.662																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(28-30)cCg>cAg		methionyl-tRNA synthetase	L-Methionine(DB00134)						110	113	112					12																	57881902		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57881902C>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.29C>A	12.37:g.57881902C>A	ENSP00000262027:p.Pro10Gln		Somatic				ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR	p.P10Q	NM_004990.3	NP_004981.2	WXS	Illumina GAIIx	Phase_I	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		1	163	+			10					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.29C>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128421	0.56721	.	.	ENSG00000166986	ENST00000262027	T	0.76968	-1.06	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	L	0.37850	1.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83807	0.0239	10	0.56958	D	0.05	-15.1029	15.0215	0.71635	0.0:1.0:0.0:0.0	.	10;10	B4E0E9;P56192	.;SYMC_HUMAN	Q	10	ENSP00000262027:P10Q	ENSP00000262027:P10Q	P	+	2	0	MARS	56168169	1.000000	0.71417	0.976000	0.42696	0.022000	0.10575	4.216000	0.58540	2.340000	0.79590	0.484000	0.47621	CCG		0.662	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		6	186	6	186	---	---	---	---	A	57881902	C	A	57881902	3	1	158	1	0	0	0	0	1	0	0	0	9316	652	23	1	31	1	MARS	12	57881902	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	396715	57881902	75969993	209	7274										
SLC26A10	65012	broad.mit.edu	37	chr12	58014048	58014048	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atgtcagctcctaagagtctGggaagtgcatttaagtcctg	11	8	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.chr12:58014048G>T	ENST00000320442.4	+	1	356	c.45G>T	c.(43-45)ctG>ctT	p.L15L	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|SLC26A10_ENST00000379218.2_Silent_p.L15L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	15						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCAT	0.532																																						ENST00000379218.2																			2	Substitution - Nonsense(2)	p.G16*(2)	lung(2)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(43-45)ctG>ctT		solute carrier family 26, member 10							276	247	257					12																	58014048		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58014048G>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.45G>T	12.37:g.58014048G>T			Somatic				SLC26A10_ENST00000320442.4_Silent_p.L15L	p.L15L			WXS	Illumina GAIIx	Phase_I	Q8NG04	S2610_HUMAN			1	356	+	Melanoma(17;0.122)		15					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.45G>T	CCDS8949.2																																																																																				0.532	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			7	274	7	274	---	---	---	---	T	58014048	G	T	58014048	2	4	158	1	0	0	0	0	0	0	0	1	14515	1335	47	1		1	SLC26A10	12	58014048	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	132146	58014048	75837847	210	7275										
ZFC3H1	196441	broad.mit.edu	37	chr12	72056881	72056881	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccagaggaggtctgcacccCggcttgcctcctcgctcacc	10	19	2	1	rs374959181		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.chr12:72056881C>A	ENST00000378743.3	-	1	868	c.510G>T	c.(508-510)ccG>ccT	p.P170P	ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	170					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						GTCTGCACCCCGGCTTGCCTC	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.(508-510)ccG>ccT		zinc finger, C3H1-type containing							88	101	97					12																	72056881		2000	4163	6163	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056881C>A	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.510G>T	12.37:g.72056881C>A			Somatic				ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR	p.P170P	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			1	868	-			170					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.510G>T	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		6	182	6	182	---	---	---	---	A	72056881	C	A	72056881	2	1	158	1	0	0	0	0	0	0	0	1	17630	639	23	1		1	ZFC3H1	12	72056881	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	14042833	72056881	61795014	211	7276										
NT5DC3	51559	broad.mit.edu	37	chr12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-													0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	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)ttttacfs		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		Somatic				NT5DC3_ENST00000465502.1_5'UTR	p.FY202fs	NM_001031701.2	NP_001026871.1	WXS	Illumina GAIIx	Phase_I	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	158	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	32135492	104192373	29659522	212	7277										
WSB2	55884	broad.mit.edu	37	chr12	118490251	118490251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcaaactggtgggggcgccCgggcttgagttcggccagca	16	11	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.chr12:118490251C>A	ENST00000315436.3	-	2	187	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'Flank|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000544233.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	16					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)					TGGGGGCGCCCGGGCTTGAGT	0.592																																						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.(46-48)Ggg>Tgg		WD repeat and SOCS box containing 2							84	96	92					12																	118490251		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118490251C>A	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.46G>T	12.37:g.118490251C>A	ENSP00000319474:p.Gly16Trp		Somatic				WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W	p.G16W	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			2	187	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		16					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.46G>T	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010000	0.75046	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.48	5.48	0.80851	.	0.184054	0.47852	D	0.000219	T	0.58018	0.2093	L	0.54323	1.7	0.80722	D	1	D	0.57257	0.979	P	0.47891	0.56	T	0.63391	-0.6648	10	0.87932	D	0	-17.0868	18.1384	0.89630	0.0:1.0:0.0:0.0	.	16	Q9NYS7	WSB2_HUMAN	W	16;33;18;18	ENSP00000319474:G16W;ENSP00000409131:G33W;ENSP00000439450:G18W;ENSP00000440386:G18W	ENSP00000319474:G16W	G	-	1	0	WSB2	116974634	0.995000	0.38212	0.995000	0.50966	0.861000	0.49209	3.217000	0.51184	2.563000	0.86464	0.591000	0.81541	GGG		0.592	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		5	165	5	165	---	---	---	---	A	118490251	C	A	118490251	3	1	158	1	0	0	0	0	1	0	0	0	17402	652	23	1	1200	1	WSB2	12	118490251	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	14297878	118490251	15361644	213	7278										
POLE	5426	broad.mit.edu	37	chr12	133220064	133220064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gagcaaaggtctctgcttccCagcctgaaaggtgcctcacc	10	14	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.chr12:133220064C>A	ENST00000320574.5	-	34	4416	c.4373G>T	c.(4372-4374)tGg>tTg	p.W1458L	POLE_ENST00000535270.1_Missense_Mutation_p.W1431L|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1458					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)	CTCTGCTTCCCAGCCTGAAAG	0.582								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.(4372-4374)tGg>tTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							156	148	151					12																	133220064		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.chr12:133220064C>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.4373G>T	12.37:g.133220064C>A	ENSP00000322570:p.Trp1458Leu		Somatic				POLE_ENST00000535270.1_Missense_Mutation_p.W1431L	p.W1458L	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4416	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1458					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4373G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895227	0.33442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.87	4.97	0.65823	.	0.191700	0.53938	N	0.000057	T	0.01940	0.0061	N	0.04508	-0.205	0.27121	N	0.962142	B;B	0.10296	0.003;0.0	B;B	0.04013	0.001;0.0	T	0.45131	-0.9282	10	0.26408	T	0.33	.	14.6747	0.68969	0.1454:0.8546:0.0:0.0	.	1431;1458	F5H1D6;Q07864	.;DPOE1_HUMAN	L	1458;1469;1431	ENSP00000322570:W1458L;ENSP00000406383:W1469L;ENSP00000445753:W1431L	ENSP00000322570:W1458L	W	-	2	0	POLE	131730137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.703000	0.61824	1.485000	0.48380	0.644000	0.83932	TGG		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	220	8	220	---	---	---	---	A	133220064	C	A	133220064	3	1	158	1	0	0	0	0	1	0	0	0	12196	595	21	1	2551	1	POLE	12	133220064	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	14729813	133220064	631831	214	7279										
XPO4	64328	broad.mit.edu	37	chr13	21375050	21375050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aacaatatctttgcccatctGgggacttagtagatgagtga	10	7	2	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.chr13:21375050G>T	ENST00000255305.6	-	14	1968	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	XPO4_ENST00000400602.2_Missense_Mutation_p.Q633K			Q9C0E2	XPO4_HUMAN	exportin 4	633					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)		TTGCCCATCTGGGGACTTAGT	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.(1897-1899)Cag>Aag		exportin 4							147	136	139					13																	21375050		1815	4083	5898	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375050G>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.1897C>A	13.37:g.21375050G>T	ENSP00000255305:p.Gln633Lys		Somatic				XPO4_ENST00000255305.6_Missense_Mutation_p.Q633K	p.Q633K	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	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)	14	1932	-		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)	633					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1897C>A	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869146	0.91587	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.47716	1.5	0.80722	D	1	P	0.38395	0.629	B	0.43331	0.416	T	0.30179	-0.9987	10	0.07644	T	0.81	-14.7826	19.7319	0.96186	0.0:0.0:1.0:0.0	.	633	Q9C0E2	XPO4_HUMAN	K	633;503;633	ENSP00000383444:Q633K;ENSP00000255305:Q633K	ENSP00000255305:Q633K	Q	-	1	0	XPO4	20273050	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	9.363000	0.97131	2.668000	0.90789	0.655000	0.94253	CAG		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		6	131	6	131	---	---	---	---	T	21375050	G	T	21375050	3	4	158	1	0	0	0	0	1	0	0	0	17443	1357	47	1	1598	1	XPO4	13	21375050	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		21375050	93794828	215	7280										
MED4	29079	broad.mit.edu	37	chr13	48653982	48653982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcttcggcttaacattacctGgcaatcttcctgctgcaagt	7	12	2	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.chr13:48653982G>T	ENST00000258648.2	-	6	663	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.P167Q	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	213					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)|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)	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)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATTACCTGGCAATCTTCC	0.453																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(637-639)cCa>cAa		mediator complex subunit 4							135	120	125					13																	48653982		2203	4300	6503	SO:0001583	missense	29079				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	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48653982G>T	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.638C>A	13.37:g.48653982G>T	ENSP00000258648:p.Pro213Gln		Somatic				MED4_ENST00000378586.1_Missense_Mutation_p.P167Q|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	p.P213Q	NM_014166.3	NP_054885.1	WXS	Illumina GAIIx	Phase_I	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	663	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	213					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.638C>A	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328063	0.81690	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	L	0.49126	1.545	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.76088	-0.3087	9	0.62326	D	0.03	-19.5564	18.9634	0.92685	0.0:0.0:1.0:0.0	.	191;213	E9PDW1;Q9NPJ6	.;MED4_HUMAN	Q	213;191;167;191	.	ENSP00000258648:P213Q	P	-	2	0	MED4	47551983	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	9.663000	0.98605	2.793000	0.96121	0.563000	0.77884	CCA		0.453	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		5	123	5	123	---	---	---	---	T	48653982	G	T	48653982	3	4	158	1	0	0	0	0	1	0	0	0	9450	1348	47	1	182	1	MED4	13	48653982	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	27278932	48653982	66515896	216	7281										
VPS36	51028	broad.mit.edu	37	chr13	53008975	53008975	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgggaaactggcatattctCccatcttctttgtgtcattt	7	10	4	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.chr13:53008975C>A	ENST00000378060.4	-	5	421	c.394G>T	c.(394-396)Gag>Tag	p.E132*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	132	GLUE C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GGCATATTCTCCCATCTTCTT	0.343																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(394-396)Gag>Tag		vacuolar protein sorting 36 homolog (S. cerevisiae)							190	202	198					13																	53008975		2203	4300	6503	SO:0001587	stop_gained	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53008975C>A	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.394G>T	13.37:g.53008975C>A	ENSP00000367299:p.Glu132*		Somatic				VPS36_ENST00000480923.1_5'UTR	p.E132*	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	WXS	Illumina GAIIx	Phase_I	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	5	421	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	132			GLUE C-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	ENST00000378060.4	37	c.394G>T	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.754862	0.69648	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-25.1511	18.9612	0.92678	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000367299:E132X	E	-	1	0	VPS36	51906976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.747000	0.68689	2.715000	0.92844	0.563000	0.77884	GAG		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			7	250	7	250	---	---	---	---	A	53008975	C	A	53008975	4	1	158	1	0	0	0	0	0	1	0	0	17201	864	30	3	806	3	VPS36	13	53008975	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4354993	53008975	62160903	217	7282										
RBM26	64062	broad.mit.edu	37	chr13	79916824	79916824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcttggtttttatactttttGgaagacagcgtccaggagaa	10	6	1	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.chr13:79916824G>T	ENST00000438737.2	-	17	2842	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q|RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	801					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATACTTTTTGGAAGACAGCG	0.299																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2401-2403)cCa>cAa		RNA binding motif protein 26							114	124	121					13																	79916824		2203	4296	6499	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79916824G>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2402C>A	13.37:g.79916824G>T	ENSP00000387531:p.Pro801Gln		Somatic				RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q|RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q	p.P801Q			WXS	Illumina GAIIx	Phase_I	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	17	2842	-		Acute lymphoblastic leukemia(28;0.0279)	801					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2402C>A		.	.	.	.	.	.	.	.	.	.	G	11.86	1.765291	0.31228	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.48836	0.8;0.8	5.37	5.37	0.77165	.	0.239992	0.42548	D	0.000691	T	0.37758	0.1015	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.25955	0.04;0.138;0.085;0.138	B;B;B;B	0.21917	0.008;0.037;0.017;0.037	T	0.17837	-1.0356	9	.	.	.	-5.4849	7.3326	0.26592	0.2048:0.0:0.7952:0.0	.	158;777;801;774	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	Q	774;802;801;777	ENSP00000267229:P774Q;ENSP00000390222:P777Q	.	P	-	2	0	RBM26	78814825	0.996000	0.38824	0.995000	0.50966	0.990000	0.78478	2.787000	0.47798	2.673000	0.90976	0.467000	0.42956	CCA		0.299	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		7	227	7	227	---	---	---	---	T	79916824	G	T	79916824	3	4	158	1	0	0	0	0	1	0	0	0	13126	1348	47	1	645	1	RBM26	13	79916824	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	26907849	79916824	35253054	218	7283										
SLITRK1	114798	broad.mit.edu	37	chr13	84454723	84454723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgcctgggatctttgtacctCcgtttggagcagaccctggt	12	11	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.chr13:84454723C>A	ENST00000377084.2	-	1	1805	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	307					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)		CTTTGTACCTCCGTTTGGAGC	0.542																																						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.(919-921)gGa>gTa		SLIT and NTRK-like family, member 1							75	74	74					13																	84454723		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454723C>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.920G>T	13.37:g.84454723C>A	ENSP00000366288:p.Gly307Val		Somatic					p.G307V	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1805	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	307					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.920G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555996	0.27827	.	.	ENSG00000178235	ENST00000377084	T	0.57752	0.38	4.85	4.85	0.62838	.	0.053861	0.85682	D	0.000000	T	0.39036	0.1063	N	0.14661	0.345	0.80722	D	1	B	0.25743	0.133	B	0.28465	0.09	T	0.24548	-1.0157	10	0.37606	T	0.19	-5.658	16.699	0.85343	0.0:1.0:0.0:0.0	.	307	Q96PX8	SLIK1_HUMAN	V	307	ENSP00000366288:G307V	ENSP00000366288:G307V	G	-	2	0	SLITRK1	83352724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.525000	0.85131	0.555000	0.69702	GGA		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		7	67	7	67	---	---	---	---	A	84454723	C	A	84454723	3	1	158	1	0	0	0	0	1	0	0	0	14742	855	30	3	1174	3	SLITRK1	13	84454723	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4537899	84454723	30715155	219	7284										
DHRS1	115817	broad.mit.edu	37	chr14	24765763	24765763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acatggaggcaggggtttccCagaatgccttattcctggtg	13	9	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.chr14:24765763C>A	ENST00000288111.7	-	4	602	c.326G>T	c.(325-327)tGg>tTg	p.W109L	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	109						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)		AGGGGTTTCCCAGAATGCCTT	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(325-327)tGg>tTg		dehydrogenase/reductase (SDR family) member 1							173	141	152					14																	24765763		2203	4300	6503	SO:0001583	missense	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24765763C>A	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.326G>T	14.37:g.24765763C>A	ENSP00000288111:p.Trp109Leu		Somatic	OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	p.W109L	NM_001136050.2	NP_001129522.1	WXS	Illumina GAIIx	Phase_I	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	4	602	-			109					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	37	c.326G>T	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.952640	0.92660	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.86627	-2.15;-2.15	5.16	5.16	0.70880	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	N	0.12611	0.24	0.80722	D	1	P	0.41978	0.767	P	0.51550	0.673	D	0.86512	0.1810	10	0.72032	D	0.01	-13.4724	14.154	0.65405	0.0:1.0:0.0:0.0	.	109	Q96LJ7	DHRS1_HUMAN	L	109	ENSP00000288111:W109L;ENSP00000380027:W109L	ENSP00000288111:W109L	W	-	2	0	DHRS1	23835603	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.639000	0.74314	2.395000	0.81488	0.651000	0.88453	TGG		0.552	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		5	116	5	116	---	---	---	---	A	24765763	C	A	24765763	3	1	158	1	0	0	0	0	1	0	0	0	4486	595	21	1	639	1	DHRS1	14	24765763	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		24765763	82583777	220	7285										
ADCY4	196883	broad.mit.edu	37	chr14	24799472	24799472	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acacagtagtaacagtccccCaggatcttgatccgcatgca	8	13	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.chr14:24799472C>A	ENST00000310677.4	-	8	1073	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	320					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)		AACAGTCCCCCAGGATCTTGA	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.(958-960)ctG>ctT		adenylate cyclase 4							138	102	114					14																	24799472		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.chr14:24799472C>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.960G>T	14.37:g.24799472C>A			Somatic				ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	8	1073	-			320					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.960G>T	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			5	57	5	57	---	---	---	---	A	24799472	C	A	24799472	2	1	158	1	0	0	0	0	0	0	0	1	296	581	21	1		1	ADCY4	14	24799472	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	33709	24799472	82550068	221	7286										
NYNRIN	57523	broad.mit.edu	37	chr14	24880587	24880587	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctttctgacgaagctacactCgctcaagatgctttcaatca	6	12	4	2	rs547499850		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.chr14:24880587C>A	ENST00000382554.3	+	6	2891	c.2573C>A	c.(2572-2574)tCg>tAg	p.S858*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	858					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						AAGCTACACTCGCTCAAGATG	0.552											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.(2572-2574)tCg>tAg		NYN domain and retroviral integrase containing							198	194	196					14																	24880587		2003	4178	6181	SO:0001587	stop_gained	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880587C>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.2573C>A	14.37:g.24880587C>A	ENSP00000371994:p.Ser858*		Somatic	OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.S858*	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			6	2891	+			858					Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	ENST00000382554.3	37	c.2573C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	42	9.294510	0.99128	.	.	ENSG00000205978	ENST00000382554	.	.	.	5.02	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9573	0.24578	0.0:0.7317:0.1745:0.0938	.	.	.	.	X	858	.	ENSP00000371994:S858X	S	+	2	0	NYNRIN	23950427	0.039000	0.19947	0.258000	0.24420	0.994000	0.84299	1.497000	0.35649	0.680000	0.31366	0.467000	0.42956	TCG		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	198	6	198	---	---	---	---	A	24880587	C	A	24880587	4	1	158	1	0	0	0	0	0	1	0	0	10796	893	31	3	2591	3	NYNRIN	14	24880587	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	81115	24880587	82468953	222	7287										
SLC25A21	89874	broad.mit.edu	37	chr14	37149905	37149905	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaataggtgtattcataaacCagcagcatcactgcaccacc	7	12	2	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.chr14:37149905C>A	ENST00000331299.5	-	10	1373	c.858G>T	c.(856-858)ctG>ctT	p.L286L	SLC25A21_ENST00000555449.1_Silent_p.L286L	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	286					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATTCATAAACCAGCAGCATCA	0.418																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(856-858)ctG>ctT		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							137	132	134					14																	37149905		2203	4300	6503	SO:0001819	synonymous_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37149905C>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.858G>T	14.37:g.37149905C>A			Somatic				SLC25A21_ENST00000555449.1_Silent_p.L286L	p.L286L	NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	10	1373	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		286					A8K0L0|G3V4L5|Q3MJ99	Silent	SNP	ENST00000331299.5	37	c.858G>T	CCDS9663.1																																																																																				0.418	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		5	110	5	110	---	---	---	---	A	37149905	C	A	37149905	2	1	158	1	0	0	0	0	0	0	0	1	14484	581	21	1		1	SLC25A21	14	37149905	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12269318	37149905	70199635	223	7288										
FANCM	57697	broad.mit.edu	37	chr14	45665409	45665409	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggaggattctagcacttcagGggcatcctgttccaagtcaa	11	10	3	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.chr14:45665409G>T	ENST00000267430.5	+	21	5460	c.5375G>T	c.(5374-5376)gGg>gTg	p.G1792V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1792	Interaction with FAAP24 and EME1.				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						AGCACTTCAGGGGCATCCTGT	0.433								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.(5374-5376)gGg>gTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							132	130	131					14																	45665409		2203	4300	6503	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.chr14:45665409G>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.5375G>T	14.37:g.45665409G>T	ENSP00000267430:p.Gly1792Val		Somatic				FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	p.G1792V	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			21	5460	+			1792			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5375G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.455|4.455	0.084302|0.084302	0.08583|0.08583	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.16743|.	2.91;2.91;2.32|.	5.27|5.27	-4.11|-4.11	0.03928|0.03928	.|.	3.469510|.	0.00871|.	N|.	0.002022|.	T|T	0.08980|0.08980	0.0222|0.0222	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.28522|0.28522	-1.0041|-1.0041	10|5	0.22706|.	T|.	0.39|.	.|.	1.4217|1.4217	0.02314|0.02314	0.166:0.2365:0.3262:0.2713|0.166:0.2365:0.3262:0.2713	.|.	1766;1792|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	V|S	1792;1766;1308|759	ENSP00000267430:G1792V;ENSP00000442493:G1766V;ENSP00000452033:G1308V|.	ENSP00000267430:G1792V|.	G|R	+|+	2|3	0|2	FANCM|FANCM	44735159|44735159	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.409000|-0.409000	0.07160|0.07160	-0.398000|-0.398000	0.07679|0.07679	-0.224000|-0.224000	0.12420|0.12420	GGG|AGG		0.433	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	117	6	117	---	---	---	---	T	45665409	G	T	45665409	3	4	158	1	0	0	0	0	1	0	0	0	5671	1232	43	1	5457	1	FANCM	14	45665409	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	8515504	45665409	61684131	224	7289										
STYX	6815	broad.mit.edu	37	chr14	53211583	53211583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttcccaggagtggacctaccCtatgagacgagagatgcagg	13	10	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.chr14:53211583C>A	ENST00000354586.4	+	2	364	c.71C>A	c.(70-72)cCt>cAt	p.P24H	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.P24H	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	24					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TGGACCTACCCTATGAGACGA	0.368																																						ENST00000354586.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(70-72)cCt>cAt		serine/threonine/tyrosine interacting protein							186	170	176					14																	53211583		2203	4300	6503	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53211583C>A		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	11447	protein-coding gene	gene with protein product		615814	"serine/threonine/tyrosine-interacting protein"			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.71C>A	14.37:g.53211583C>A	ENSP00000346599:p.Pro24His		Somatic				STYX_ENST00000442123.2_Missense_Mutation_p.P24H|STYX_ENST00000556861.1_Intron	p.P24H	NM_145251.3	NP_660294.1	WXS	Illumina GAIIx	Phase_I	Q8WUJ0	STYX_HUMAN			2	364	+	Breast(41;0.176)		24					B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.71C>A	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890473	0.72524	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.60424	0.19;0.19	5.52	5.52	0.82312	.	0.729937	0.12971	N	0.424120	T	0.64843	0.2635	L	0.57536	1.79	0.80722	D	1	P	0.51240	0.943	P	0.46718	0.525	T	0.66184	-0.5987	10	0.51188	T	0.08	.	19.7889	0.96450	0.0:1.0:0.0:0.0	.	24	Q8WUJ0	STYX_HUMAN	H	24	ENSP00000403214:P24H;ENSP00000346599:P24H	ENSP00000346599:P24H	P	+	2	0	STYX	52281333	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.364000	0.73086	2.734000	0.93682	0.655000	0.94253	CCT		0.368	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		5	79	5	79	---	---	---	---	A	53211583	C	A	53211583	3	1	158	1	0	0	0	0	1	0	0	0	15359	681	24	1	77	1	STYX	14	53211583	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7546174	53211583	54137957	225	7290										
SYNE2	23224	broad.mit.edu	37	chr14	64574302	64574302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agcaaggcccagaatgttccCtaaggcccaaccaaacagaa	8	13	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.chr14:64574302C>A	ENST00000344113.4	+	65	12798	c.12586C>A	c.(12586-12588)Cta>Ata	p.L4196I	SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L581I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4196					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)		AGAATGTTCCCTAAGGCCCAA	0.453																																						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.(1741-1743)Cta>Ata		spectrin repeat containing, nuclear envelope 2							195	184	188					14																	64574302		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.chr14:64574302C>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.12586C>A	14.37:g.64574302C>A	ENSP00000341781:p.Leu4196Ile		Somatic				SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4196I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I	p.L581I			WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	66	12885	+			4196					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1741C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	0.996	-0.692396	0.03303	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.60171	0.68;3.98;0.69;0.21;4.02;3.98	4.66	0.628	0.17681	.	1.232900	0.06423	U	0.722771	T	0.40222	0.1108	N	0.17082	0.46	0.09310	N	1	P;B;P	0.42692	0.787;0.421;0.557	B;B;B	0.41988	0.372;0.055;0.117	T	0.27872	-1.0061	10	0.39692	T	0.17	.	4.0869	0.09951	0.0:0.523:0.1757:0.3012	.	581;4196;4196	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4196;581;4196;4211;4211;830;581;88	ENSP00000350719:L4196I;ENSP00000349969:L581I;ENSP00000341781:L4196I;ENSP00000452570:L4211I;ENSP00000450831:L830I;ENSP00000378249:L581I	ENSP00000261678:L4211I	L	+	1	2	SYNE2	63644055	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.112000	0.10791	0.191000	0.20236	0.563000	0.77884	CTA		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	202	7	202	---	---	---	---	A	64574302	C	A	64574302	3	1	158	1	0	0	0	0	1	0	0	0	15443	680	24	1	12840	1	SYNE2	14	64574302	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11362719	64574302	42775238	226	7291										
SMOC1	64093	broad.mit.edu	37	chr14	70461181	70461181	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gactccaaactgaacaacacCaacataagaaattcaggtaa	5	10	1	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.chr14:70461181C>A	ENST00000381280.4	+	7	901	c.648C>A	c.(646-648)acC>acA	p.T216T	SMOC1_ENST00000361956.3_Silent_p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	216					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)		TGAACAACACCAACATAAGAA	0.428																																						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.(646-648)acC>acA		SPARC related modular calcium binding 1							215	209	211					14																	70461181		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.chr14:70461181C>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.648C>A	14.37:g.70461181C>A			Somatic				SMOC1_ENST00000361956.3_Silent_p.T216T	p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	WXS	Illumina GAIIx	Phase_I	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	7	901	+			216					A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.648C>A	CCDS9798.1																																																																																				0.428	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	180	6	180	---	---	---	---	A	70461181	C	A	70461181	2	1	158	1	0	0	0	0	0	0	0	1	14801	581	21	1		1	SMOC1	14	70461181	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5886879	70461181	36888359	227	7292										
PCNX	22990	broad.mit.edu	37	chr14	71455412	71455412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cattgctcatcggatcacccCtaaggtatggtattttcaat	7	10	3	0	rs11625690	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.chr14:71455412C>A	ENST00000304743.2	+	7	2886	c.2440C>A	c.(2440-2442)Cta>Ata	p.L814I	PCNX_ENST00000238570.5_Missense_Mutation_p.L814I|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	814			L -> I (in dbSNP:rs11625690).			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)		CGGATCACCCCTAAGGTATGG	0.493																																						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.(2440-2442)Cta>Ata		pecanex homolog (Drosophila)							174	155	162					14																	71455412		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455412C>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.2440C>A	14.37:g.71455412C>A	ENSP00000304192:p.Leu814Ile		Somatic				PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L814I	p.L814I	NM_014982.2	NP_055797.2	WXS	Illumina GAIIx	Phase_I	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)	7	2886	+			814		L -> I (in dbSNP:rs11625690).			B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2440C>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958302	0.34565	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01051	5.4;5.4	5.01	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.978;0.996	T	0.60089	-0.7331	10	0.37606	T	0.19	.	14.091	0.64990	0.0:0.9273:0.0:0.0727	rs11625690;rs11625690	814;814	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	I	814	ENSP00000304192:L814I;ENSP00000238570:L814I	ENSP00000238570:L814I	L	+	1	2	PCNX	70525165	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.275000	0.78548	1.495000	0.48549	-0.186000	0.12905	CTA		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	259	7	259	---	---	---	---	A	71455412	C	A	71455412	3	1	158	1	0	0	0	0	1	0	0	0	11591	680	24	1	2466	1	PCNX	14	71455412	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	994231	71455412	35894128	228	7293										
MLH3	27030	broad.mit.edu	37	chr14	75489529	75489529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gggcttaccatggcaggcttGggatgccaacaccttctgga	13	11	1	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.chr14:75489529G>T	ENST00000556740.1	-	10	4113	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K	MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000355774.2_Missense_Mutation_p.Q1360K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000544985.1_3'UTR|RNU6-689P_ENST00000384197.1_RNA|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1360					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)		TGGCAGGCTTGGGATGCCAAC	0.517								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.(4078-4080)Caa>Aaa	Mismatch excision repair (MMR)	mutL homolog 3							174	161	165					14																	75489529		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.chr14:75489529G>T	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.4078C>A	14.37:g.75489529G>T	ENSP00000452316:p.Gln1360Lys		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q1360K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K	p.Q1360K	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	11	4293	-			1360					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.4078C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875520	0.33162	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T;T	0.76709	-0.71;-0.71;-1.04;-1.04;-0.71	5.24	5.24	0.73138	MutL, C-terminal, dimerisation (2);	0.056996	0.64402	D	0.000001	T	0.68265	0.2982	N	0.20766	0.605	0.80722	D	1	B;B	0.30727	0.292;0.234	B;B	0.32762	0.126;0.152	T	0.69942	-0.5008	10	0.59425	D	0.04	-8.5308	17.0353	0.86473	0.0:0.0:1.0:0.0	.	1336;1360	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	1360;298;1336;1182;1360	ENSP00000348020:Q1360K;ENSP00000370355:Q298K;ENSP00000238662:Q1336K;ENSP00000451540:Q1182K;ENSP00000452316:Q1360K	ENSP00000238662:Q1336K	Q	-	1	0	MLH3	74559282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.335000	0.90031	2.459000	0.83118	0.561000	0.74099	CAA		0.517	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		7	175	7	175	---	---	---	---	T	75489529	G	T	75489529	3	4	158	1	0	0	0	0	1	0	0	0	9618	1357	47	1	295	1	MLH3	14	75489529	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4034117	75489529	31860011	229	7294										
TECPR2	9895	broad.mit.edu	37	chr14	102904421	102904421	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atcctcagcttggtggtctcCgagaagtatatctggtgcct	11	10	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.chr14:102904421C>A	ENST00000359520.7	+	10	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_ENST00000558678.1_Silent_p.S819S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	819					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						TGGTGGTCTCCGAGAAGTATA	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2455-2457)tcC>tcA		tectonin beta-propeller repeat containing 2							143	146	145					14																	102904421		2203	4300	6503	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102904421C>A	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.2457C>A	14.37:g.102904421C>A			Somatic	OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	TECPR2_ENST00000558678.1_Silent_p.S819S	p.S819S	NM_014844.3	NP_055659.2	WXS	Illumina GAIIx	Phase_I	O15040	TCPR2_HUMAN			10	2683	+			819					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2457C>A	CCDS32162.1																																																																																				0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		6	222	6	222	---	---	---	---	A	102904421	C	A	102904421	2	1	158	1	0	0	0	0	0	0	0	1	15741	639	23	1		1	TECPR2	14	102904421	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	27414892	102904421	4445119	230	7295										
NDNL2	56160	broad.mit.edu	37	chr15	29561192	29561192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtagtcgacggggtcggtgtGgggtatccgccggtattcca	17	9	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.chr15:29561192G>T	ENST00000332303.4	-	1	841	c.718C>A	c.(718-720)Cac>Aac	p.H240N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	240	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGGTGTGGGGTATCCGC	0.502																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(718-720)Cac>Aac		necdin-like 2							71	79	76					15																	29561192		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561192G>T	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.718C>A	15.37:g.29561192G>T	ENSP00000330694:p.His240Asn		Somatic				FAM189A1_ENST00000261275.4_Intron	p.H240N	NM_138704.3	NP_619649.1	WXS	Illumina GAIIx	Phase_I	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	841	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	240			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.718C>A	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684903	0.29872	.	.	ENSG00000185115	ENST00000332303	T	0.04234	3.67	4.21	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	N	0.11724	0.165	0.39886	D	0.973705	B	0.28400	0.21	B	0.30401	0.115	T	0.36089	-0.9762	10	0.02654	T	1	.	9.296	0.37815	0.0:0.0:0.7858:0.2142	.	240	Q96MG7	MAGG1_HUMAN	N	240	ENSP00000330694:H240N	ENSP00000330694:H240N	H	-	1	0	NDNL2	27348484	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	4.060000	0.57477	1.311000	0.45024	0.563000	0.77884	CAC		0.502	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		6	100	6	100	---	---	---	---	T	29561192	G	T	29561192	3	4	158	1	0	0	0	0	1	0	0	0	10248	1348	47	1	200	1	NDNL2	15	29561192	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		29561192	72970200	231	7296										
PAK6	56924	broad.mit.edu	37	chr15	40564554	40564554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttcggataccagcagccccCagaagtccctccgcacagcc	8	19	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.chr15:40564554C>A	ENST00000542403.2	+	4	1099	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K|PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|PAK6_ENST00000455577.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	330	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAGCCCCCAGAAGTCCCT	0.687																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(988-990)Cag>Aag		p21 protein (Cdc42/Rac)-activated kinase 6							54	63	60					15																	40564554		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564554C>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.988C>A	15.37:g.40564554C>A	ENSP00000439597:p.Gln330Lys		Somatic				PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|PAK6_ENST00000542403.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K	p.Q330K	NM_001276718.1	NP_001263647.1	WXS	Illumina GAIIx	Phase_I	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1900	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	330			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.988C>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324072	0.24080	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73681	-0.72;-0.72;-0.77;-0.72;-0.72	4.69	3.71	0.42584	.	0.766622	0.13061	N	0.416875	T	0.54062	0.1835	N	0.12182	0.205	0.49483	D	0.99979	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.05721	T	0.95	.	14.7013	0.69157	0.1449:0.8551:0.0:0.0	.	330;330	Q9NQU5;G5E9R2	PAK6_HUMAN;.	K	330	ENSP00000406873:Q330K;ENSP00000401153:Q330K;ENSP00000409465:Q330K;ENSP00000260404:Q330K;ENSP00000439597:Q330K	ENSP00000260404:Q330K	Q	+	1	0	PAK6	38351846	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.192000	0.58378	2.318000	0.78349	0.555000	0.69702	CAG		0.687	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			5	89	5	89	---	---	---	---	A	40564554	C	A	40564554	3	1	158	1	0	0	0	0	1	0	0	0	11404	595	21	1	998	1	PAK6	15	40564554	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11003362	40564554	61966838	232	7297										
CHST14	113189	broad.mit.edu	37	chr15	40764282	40764282	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cacctgtgccagccttgtgcCgtgcactatgactttgtggg	12	12	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.chr15:40764282C>A	ENST00000306243.5	+	1	1123	c.870C>A	c.(868-870)gcC>gcA	p.A290A	CHST14_ENST00000559991.1_Silent_p.A265A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	290					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCTTGTGCCGTGCACTATG	0.567																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(868-870)gcC>gcA		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							118	119	119					15																	40764282		2203	4300	6503	SO:0001819	synonymous_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764282C>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.870C>A	15.37:g.40764282C>A			Somatic				CHST14_ENST00000559991.1_Silent_p.A265A	p.A290A	NM_130468.3	NP_569735.1	WXS	Illumina GAIIx	Phase_I	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1123	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	290					Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	ENST00000306243.5	37	c.870C>A	CCDS10059.1																																																																																				0.567	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		5	170	5	170	---	---	---	---	A	40764282	C	A	40764282	2	1	158	1	0	0	0	0	0	0	0	1	3402	639	23	1		1	CHST14	15	40764282	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	199728	40764282	61767110	233	7298										
SHC4	399694	broad.mit.edu	37	chr15	49255147	49255147	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttggccctgtgcagcatcccGgggtgcccgaagagtcctac	13	14	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.chr15:49255147G>T	ENST00000332408.4	-	1	494	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	22	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)		GCAGCATCCCGGGGTGCCCGA	0.607																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(64-66)ccC>ccA		SHC (Src homology 2 domain containing) family, member 4							75	81	79					15																	49255147		2196	4288	6484	SO:0001819	synonymous_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255147G>T	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.66C>A	15.37:g.49255147G>T			Somatic					p.P22P	NM_203349.3	NP_976224.3	WXS	Illumina GAIIx	Phase_I	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	494	-		all_lung(180;0.00466)	22			CH2.		Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	c.66C>A	CCDS10130.1																																																																																				0.607	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		6	152	6	152	---	---	---	---	T	49255147	G	T	49255147	2	4	158	1	0	0	0	0	0	0	0	1	14273	1103	39	1		1	SHC4	15	49255147	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	8490865	49255147	53276245	234	7299										
ATP8B4	79895	broad.mit.edu	37	chr15	50279700	50279700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctttccaagaaaggattccCatgaatttatctaacttgtt	5	8	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.chr15:50279700C>A	ENST00000284509.6	-	10	777	c.636G>T	c.(634-636)atG>atT	p.M212I	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	212						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)		AAAGGATTCCCATGAATTTAT	0.393																																						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.(634-636)atG>atT		ATPase, class I, type 8B, member 4							116	113	114					15																	50279700		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.chr15:50279700C>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.636G>T	15.37:g.50279700C>A	ENSP00000284509:p.Met212Ile		Somatic				ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	p.M212I	NM_024837.2	NP_079113.2	WXS	Illumina GAIIx	Phase_I	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	10	777	-		all_lung(180;0.00183)	212					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.636G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806845	0.31961	.	.	ENSG00000104043	ENST00000284509	T	0.73789	-0.78	5.67	-11.3	0.00108	ATPase, P-type, ATPase-associated domain (1);	0.774566	0.11642	N	0.543681	T	0.31796	0.0808	N	0.01009	-1.055	0.18873	N	0.999983	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.39692	T	0.17	.	4.3387	0.11099	0.1533:0.1001:0.1599:0.5866	.	212	Q8TF62	AT8B4_HUMAN	I	212	ENSP00000284509:M212I	ENSP00000284509:M212I	M	-	3	0	ATP8B4	48066992	0.000000	0.05858	0.001000	0.08648	0.840000	0.47671	-3.198000	0.00561	-2.227000	0.00722	-0.140000	0.14226	ATG		0.393	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		5	87	5	87	---	---	---	---	A	50279700	C	A	50279700	3	1	158	1	0	0	0	0	1	0	0	0	1197	594	21	1	3018	1	ATP8B4	15	50279700	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1024553	50279700	52251692	235	7300										
UNC13C	440279	broad.mit.edu	37	chr15	54586236	54586236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agaagtgaggaccttgagtgGagaaatggatgtctggtaca	15	4	1	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.chr15:54586236G>T	ENST00000260323.11	+	10	3962	c.3962G>T	c.(3961-3963)gGa>gTa	p.G1321V	UNC13C_ENST00000545554.1_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					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)		ACCTTGAGTGGAGAAATGGAT	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.(3961-3963)gGa>gTa		unc-13 homolog C (C. elegans)							231	233	233					15																	54586236		1871	4103	5974	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586236G>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.3962G>T	15.37:g.54586236G>T	ENSP00000260323:p.Gly1321Val		Somatic				UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V	p.G1321V			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3962	+			1321					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3962G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545160	0.86022	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.72282	-0.64;-0.64;-0.64	5.91	5.91	0.95273	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86593	0.1861	10	0.62326	D	0.03	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	1321;1321	F5H090;Q8NB66	.;UN13C_HUMAN	V	1321;1321;1319	ENSP00000260323:G1321V;ENSP00000438156:G1321V;ENSP00000442569:G1319V	ENSP00000260323:G1321V	G	+	2	0	UNC13C	52373528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GGA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	215	7	215	---	---	---	---	T	54586236	G	T	54586236	3	4	158	1	0	0	0	0	1	0	0	0	16983	1174	41	3	3996	3	UNC13C	15	54586236	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4306536	54586236	47945156	236	7301										
CILP	8483	broad.mit.edu	37	chr15	65502087	65502087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaacacccaggccttggtccCcaccatctttcccccaagcc	6	20	1	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.chr15:65502087C>A	ENST00000261883.4	-	2	173	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	3					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.G3R(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						GCCTTGGTCCCCACCATCTTT	0.552																																						ENST00000261883.4																			1	Substitution - Missense(1)	p.G3R(1)	kidney(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.(7-9)Ggg>Tgg		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							119	100	106					15																	65502087		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65502087C>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.7G>T	15.37:g.65502087C>A	ENSP00000261883:p.Gly3Trp		Somatic					p.G3W	NM_003613.3	NP_003604	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			2	173	-			3					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.7G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328953	0.60743	.	.	ENSG00000138615	ENST00000261883	T	0.38887	1.11	4.84	4.84	0.62591	.	0.364577	0.23926	N	0.043194	T	0.27832	0.0685	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.43360	0.417	T	0.21690	-1.0238	10	0.72032	D	0.01	-3.2115	13.6341	0.62213	0.0:1.0:0.0:0.0	.	3	O75339	CILP1_HUMAN	W	3	ENSP00000261883:G3W	ENSP00000261883:G3W	G	-	1	0	CILP	63289140	0.008000	0.16893	0.059000	0.19551	0.984000	0.73092	2.208000	0.42797	2.666000	0.90696	0.561000	0.74099	GGG		0.552	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	57	5	57	---	---	---	---	A	65502087	C	A	65502087	3	1	158	1	0	0	0	0	1	0	0	0	3429	623	22	1	3579	1	CILP	15	65502087	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10915851	65502087	37029305	237	7302										
SNUPN	10073	broad.mit.edu	37	chr15	75899625	75899625	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtagtaggtctggtttacctCattgtaaatgcaatctagaa	9	6	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.chr15:75899625C>A	ENST00000564644.1	-	7	1110	c.532G>T	c.(532-534)Gag>Tag	p.E178*	SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*			O95149	SPN1_HUMAN	snurportin 1	178					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTTTACCTCATTGTAAATG	0.498																																						ENST00000564644.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(532-534)Gag>Tag		snurportin 1							162	137	146					15																	75899625		2197	4294	6491	SO:0001587	stop_gained	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75899625C>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.532G>T	15.37:g.75899625C>A	ENSP00000454852:p.Glu178*		Somatic				SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*	p.E178*			WXS	Illumina GAIIx	Phase_I	O95149	SPN1_HUMAN			7	1110	-			178					A6NE34|A8K0B0|D3DW76	Nonsense_Mutation	SNP	ENST00000564644.1	37	c.532G>T	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	-	25.2	4.618133	0.87359	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.64	5.64	0.86602	.	0.181716	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.9938	18.348	0.90328	0.0:1.0:0.0:0.0	.	.	.	.	X	178;220	.	ENSP00000309831:E178X	E	-	1	0	SNUPN	73686680	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.421000	0.80204	2.668000	0.90789	0.645000	0.84053	GAG		0.498	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		6	91	6	91	---	---	---	---	A	75899625	C	A	75899625	4	1	158	1	0	0	0	0	0	1	0	0	14877	835	29	3	566	3	SNUPN	15	75899625	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10397538	75899625	26631767	238	7303										
TBC1D2B	23102	broad.mit.edu	37	chr15	78346441	78346441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttggagaggtcctgctgtccCacttgaccatgtcaagactg	11	11	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.chr15:78346441C>A	ENST00000300584.3	-	2	448	c.449G>T	c.(448-450)tGg>tTg	p.W150L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.W150L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	150							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						CCTGCTGTCCCACTTGACCAT	0.488																																						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.(448-450)tGg>tTg		TBC1 domain family, member 2B							141	132	135					15																	78346441		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78346441C>A	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.449G>T	15.37:g.78346441C>A	ENSP00000300584:p.Trp150Leu		Somatic				TBC1D2B_ENST00000300584.3_Missense_Mutation_p.W150L	p.W150L			WXS	Illumina GAIIx	Phase_I	Q9UPU7	TBD2B_HUMAN			2	520	-			150					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.449G>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.49|14.49	2.551016|2.551016	0.45383|0.45383	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584;ENST00000435468	.|T;T	.|0.07444	.|3.19;3.19	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.055058	.|0.64402	.|D	.|0.000001	T|T	0.05318|0.05318	0.0141|0.0141	N|N	0.08118|0.08118	0|0	0.41537|0.41537	D|D	0.988491|0.988491	.|B;B	.|0.23249	.|0.082;0.049	.|B;B	.|0.21917	.|0.037;0.016	T|T	0.43310|0.43310	-0.9399|-0.9399	5|10	.|0.10636	.|T	.|0.68	.|.	17.9711|17.9711	0.89113|0.89113	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|150;150	.|Q9UPU7-2;Q9UPU7	.|.;TBD2B_HUMAN	W|L	32|150;150;38	.|ENSP00000387165:W150L;ENSP00000300584:W150L	.|ENSP00000300584:W150L	G|W	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76133496|76133496	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.803000|0.803000	0.45373|0.45373	6.444000|6.444000	0.73452|0.73452	2.574000|2.574000	0.86865|0.86865	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.488	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		6	139	6	139	---	---	---	---	A	78346441	C	A	78346441	3	1	158	1	0	0	0	0	1	0	0	0	15616	595	21	1	2490	1	TBC1D2B	15	78346441	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2446816	78346441	24184951	239	7304										
MEX3B	84206	broad.mit.edu	37	chr15	82336242	82336242	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttgtgcgcaaagctcagggcGgggctaggggggctgtagtc	19	8	1	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.chr15:82336242G>T	ENST00000329713.4	-	2	1404	c.969C>A	c.(967-969)ccC>ccA	p.P323P	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	323					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						AGCTCAGGGCGGGGCTAGGGG	0.637																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(967-969)ccC>ccA		mex-3 RNA binding family member B							43	51	48					15																	82336242		2194	4254	6448	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336242G>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.969C>A	15.37:g.82336242G>T			Somatic				MEX3B_ENST00000558133.1_3'UTR	p.P323P	NM_032246.4	NP_115622.2	WXS	Illumina GAIIx	Phase_I	Q6ZN04	MEX3B_HUMAN			2	1404	-			323					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.969C>A	CCDS10319.1																																																																																				0.637	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		5	104	5	104	---	---	---	---	T	82336242	G	T	82336242	2	4	158	1	0	0	0	0	0	0	0	1	9510	1103	39	1		1	MEX3B	15	82336242	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	3989801	82336242	20195150	240	7305										
MCTP2	55784	broad.mit.edu	37	chr15	94928745	94928745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttggaaaagttgccattccCttgctgtccgtaagtttcct	8	11	0	0	rs541250089		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.chr15:94928745C>A	ENST00000357742.4	+	13	1779	c.1779C>A	c.(1777-1779)ccC>ccA	p.P593P	MCTP2_ENST00000331706.4_Silent_p.P181P|MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					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)			TTGCCATTCCCTTGCTGTCCG	0.363													C|||	1	0.000199681	0	0	5008	,	,		18255	0		0	False		,,,				2504	0.001					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.(1777-1779)ccC>ccA		multiple C2 domains, transmembrane 2							185	181	183					15																	94928745		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94928745C>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.1779C>A	15.37:g.94928745C>A			Somatic				MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P|MCTP2_ENST00000331706.4_Silent_p.P181P	p.P593P	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		13	1779	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		593					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.1779C>A	CCDS32338.1																																																																																				0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		6	154	6	154	---	---	---	---	A	94928745	C	A	94928745	2	1	158	1	0	0	0	0	0	0	0	1	9401	668	24	1		1	MCTP2	15	94928745	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12592503	94928745	7602647	241	7306										
RHBDL1	9028	broad.mit.edu	37	chr16	726866	726866	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	caccgcagctgcccacccccCgtgttcatggcctcggtcac	9	20	2	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.chr16:726866C>A	ENST00000219551.2	+	2	618	c.591C>A	c.(589-591)ccC>ccA	p.P197P	LA16c-313D11.9_ENST00000567091.1_RNA|RHBDL1_ENST00000352681.3_Silent_p.P132P|LA16c-313D11.9_ENST00000571933.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	197					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCCCACCCCCCGTGTTCATGG	0.667																																						ENST00000219551.2																			0				endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9						c.(589-591)ccC>ccA		rhomboid, veinlet-like 1 (Drosophila)							84	76	79					16																	726866		2201	4300	6501	SO:0001819	synonymous_variant	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726866C>A	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.591C>A	16.37:g.726866C>A			Somatic				RHBDL1_ENST00000352681.3_Silent_p.P132P	p.P197P			WXS	Illumina GAIIx	Phase_I	O75783	RHBL1_HUMAN			2	618	+		Hepatocellular(780;0.0218)	197					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Silent	SNP	ENST00000219551.2	37	c.591C>A	CCDS10418.1																																																																																				0.667	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961		5	68	5	68	---	---	---	---	A	726866	C	A	726866	2	1	158	1	0	0	0	0	0	0	0	1	13321	639	23	1		1	RHBDL1	16	726866	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		726866	89627887	242	7307										
MLST8	64223	broad.mit.edu	37	chr16	2256121	2256121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggcacggtgggcagtgaccCggtcatcctggccactgcag	15	13	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.chr16:2256121C>A	ENST00000569417.1	+	2	389	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	12					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 actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GGCAGTGACCCGGTCATCCTG	0.652																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(34-36)cCg>cAg		MTOR associated protein, LST8 homolog (S. cerevisiae)							63	69	67					16																	2256121		2068	4205	6273	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256121C>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.35C>A	16.37:g.2256121C>A	ENSP00000456405:p.Pro12Gln		Somatic				MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q	p.P12Q	NM_022372.4	NP_071767.3	WXS	Illumina GAIIx	Phase_I	Q9BVC4	LST8_HUMAN			2	389	+			12					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.35C>A	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146261	0.57044	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.69685	1.1;-0.2;1.1;-0.42	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	N	0.25286	0.73	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.038	D;D;B	0.97110	1.0;0.998;0.017	T	0.69128	-0.5227	10	0.27785	T	0.31	-32.0393	17.0826	0.86603	0.0:1.0:0.0:0.0	.	12;31;12	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	Q	12;12;12;31	ENSP00000371888:P12Q;ENSP00000301724:P12Q;ENSP00000380313:P12Q;ENSP00000301725:P31Q	ENSP00000301724:P12Q	P	+	2	0	MLST8	2196122	1.000000	0.71417	0.981000	0.43875	0.970000	0.65996	7.411000	0.80078	2.370000	0.80446	0.436000	0.28706	CCG		0.652	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		5	129	5	129	---	---	---	---	A	2256121	C	A	2256121	3	1	158	1	0	0	0	0	1	0	0	0	9634	652	23	1	37	1	MLST8	16	2256121	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1529255	2256121	88098632	243	7308										
GP2	2813	broad.mit.edu	37	chr16	20335306	20335306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccaagggcagggtgggtccCattcagccacatgggagcgt	15	12	1	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.chr16:20335306C>A	ENST00000381362.4	-	3	443	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.G123W	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	123					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)			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						GGGTGGGTCCCATTCAGCCAC	0.592																																						ENST00000302555.5																			0				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.(367-369)Ggg>Tgg		glycoprotein 2 (zymogen granule membrane)							93	73	80					16																	20335306		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335306C>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.367G>T	16.37:g.20335306C>A	ENSP00000370767:p.Gly123Trp		Somatic				GP2_ENST00000381362.4_Missense_Mutation_p.G123W|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron	p.G123W			WXS	Illumina GAIIx	Phase_I	P55259	GP2_HUMAN			3	516	-			123					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.367G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924550	0.52653	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99458	-5.93;-5.93	5.02	5.02	0.67125	.	.	.	.	.	D	0.99670	0.9877	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97543	1.0087	9	0.87932	D	0	-23.3519	15.8919	0.79305	0.0:1.0:0.0:0.0	.	123;123	P55259-3;P55259	.;GP2_HUMAN	W	123	ENSP00000304044:G123W;ENSP00000370767:G123W	ENSP00000304044:G123W	G	-	1	0	GP2	20242807	0.996000	0.38824	0.072000	0.20136	0.033000	0.12548	5.114000	0.64648	2.591000	0.87537	0.650000	0.86243	GGG		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		5	92	5	92	---	---	---	---	A	20335306	C	A	20335306	3	1	158	1	0	0	0	0	1	0	0	0	6582	594	21	1	1286	1	GP2	16	20335306	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	18079185	20335306	70019447	244	7309										
C16orf53	79447	broad.mit.edu	37	chr16	29830900	29830900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcagcccggagccagaaacGggaggcccgcctggacaagg	15	14	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.chr16:29830900G>T	ENST00000320330.6	+	3	1152	c.590G>T	c.(589-591)cGg>cTg	p.R197L	AC009133.12_ENST00000564980.1_RNA|MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L|MVP_ENST00000452209.2_5'Flank|MVP_ENST00000395353.1_5'Flank|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	197						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											AGCCAGAAACGGGAGGCCCGC	0.577																																						ENST00000320330.6																			0											c.(589-591)cGg>cTg		PAXIP1 associated glutamate-rich protein 1							150	164	160					16																	29830900		2197	4300	6497	SO:0001583	missense	79447							g.chr16:29830900G>T	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.590G>T	16.37:g.29830900G>T	ENSP00000326519:p.Arg197Leu		Somatic				AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L	p.R197L			WXS	Illumina GAIIx	Phase_I					3	1152	+								A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	c.590G>T	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768779	0.90020	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	3.86	0.44501	.	0.055985	0.64402	D	0.000002	T	0.66597	0.2805	M	0.63843	1.955	0.44295	D	0.997166	D	0.62365	0.991	P	0.58172	0.834	T	0.68288	-0.5448	9	0.87932	D	0	-8.5233	10.4827	0.44702	0.1578:0.0:0.8422:0.0	.	197	Q9BTK6	PA1_HUMAN	L	197	.	ENSP00000326519:R197L	R	+	2	0	C16orf53	29738401	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.295000	0.89937	0.812000	0.34326	0.655000	0.94253	CGG		0.577	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		6	278	6	278	---	---	---	---	T	29830900	G	T	29830900	3	4	158	1	0	0	0	0	1	0	0	0	1818	1116	39	1	600	1	C16orf53	16	29830900	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	9495594	29830900	60523853	245	7310										
HIRIP3	8479	broad.mit.edu	37	chr16	30006001	30006001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcctcactgctctcctctccCctctgtgcgggcaggtccct	8	19	4	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.chr16:30006001C>A	ENST00000279392.3	-	4	1295	c.465G>T	c.(463-465)agG>agT	p.R155S	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	155	Glu-rich.				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						TCTCCTCTCCCCTCTGTGCGG	0.567																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(463-465)agG>agT		HIRA interacting protein 3							193	204	200					16																	30006001		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006001C>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	ENST00000279392.3:c.465G>T	16.37:g.30006001C>A	ENSP00000279392:p.Arg155Ser		Somatic				HIRIP3_ENST00000564026.1_Intron	p.R155S	NM_003609.4	NP_003600.2	WXS	Illumina GAIIx	Phase_I	Q9BW71	HIRP3_HUMAN			4	1295	-			155			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.465G>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	0.158	-1.084707	0.01888	.	.	ENSG00000149929	ENST00000279392	T	0.37752	1.18	4.26	-5.33	0.02713	.	1.802200	0.02767	N	0.119227	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.11275	-1.0594	10	0.10636	T	0.68	5.7387	1.8711	0.03208	0.1363:0.4057:0.1939:0.2641	.	155	Q9BW71	HIRP3_HUMAN	S	155	ENSP00000279392:R155S	ENSP00000279392:R155S	R	-	3	2	HIRIP3	29913502	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.733000	0.04898	-0.925000	0.03775	0.591000	0.81541	AGG		0.567	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		11	375	11	375	---	---	---	---	A	30006001	C	A	30006001	3	1	158	1	0	0	0	0	1	0	0	0	7121	622	22	1	1221	1	HIRIP3	16	30006001	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	175101	30006001	60348752	246	7311										
ZNF689	115509	broad.mit.edu	37	chr16	30620869	30620869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctggactgttagccctctcGggtactcctgcggatctaga	11	12	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.chr16:30620869G>T	ENST00000287461.3	-	2	633	c.296C>A	c.(295-297)cCg>cAg	p.P99Q	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	99	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)			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)			TAGCCCTCTCGGGTACTCCTG	0.557																																						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.(295-297)cCg>cAg		zinc finger protein 689							107	100	103					16																	30620869		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620869G>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.296C>A	16.37:g.30620869G>T	ENSP00000287461:p.Pro99Gln		Somatic				ZNF689_ENST00000566673.1_5'UTR	p.P99Q	NM_138447.1	NP_612456.1	WXS	Illumina GAIIx	Phase_I	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	633	-			99			KRAB.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.296C>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	3.768	-0.048198	0.07407	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.06687	3.27	4.31	-1.76	0.08006	Krueppel-associated box (1);	0.220262	0.23334	N	0.049302	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.27316	0.175	B	0.22753	0.041	T	0.47018	-0.9149	10	0.12103	T	0.63	-2.0091	7.9238	0.29861	0.1536:0.4823:0.3641:0.0	.	99	Q96CS4	ZN689_HUMAN	Q	99	ENSP00000287461:P99Q	ENSP00000287461:P99Q	P	-	2	0	ZNF689	30528370	0.852000	0.29690	0.041000	0.18516	0.292000	0.27327	1.038000	0.30254	-0.139000	0.11414	-0.305000	0.09177	CCG		0.557	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		4	85	4	85	---	---	---	---	T	30620869	G	T	30620869	3	4	158	1	0	0	0	0	1	0	0	0	18091	1116	39	1	1214	1	ZNF689	16	30620869	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	614868	30620869	59733884	247	7312										
GPR56	9289	broad.mit.edu	37	chr16	57691386	57691386	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcctgccttgtcaccattgcCgcctacctctgctccaggtg	9	17	2	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.chr16:57691386C>A	ENST00000388812.4	+	10	1709	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562631.1_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	423					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						TCACCATTGCCGCCTACCTCT	0.647																																						ENST00000562631.1																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						c.(1267-1269)gcC>gcA		G protein-coupled receptor 56							155	139	144					16																	57691386		2198	4300	6498	SO:0001819	synonymous_variant	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57691386C>A	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.1269C>A	16.37:g.57691386C>A			Somatic				GPR56_ENST00000388812.4_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A	p.A423A			WXS	Illumina GAIIx	Phase_I	Q9Y653	GPR56_HUMAN			10	1801	+			423					A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	ENST00000388812.4	37	c.1269C>A	CCDS32460.1																																																																																				0.647	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3			5	222	5	222	---	---	---	---	A	57691386	C	A	57691386	2	1	158	1	0	0	0	0	0	0	0	1	6700	639	23	1		1	GPR56	16	57691386	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	27070517	57691386	32663367	248	7313										
GPR97	222487	broad.mit.edu	37	chr16	57722301	57722301	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggttcaccatcctttacctCccaagtcagagcaccacagt	6	15	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.chr16:57722301C>A	ENST00000333493.4	+	12	1739	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	526					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						TCCTTTACCTCCCAAGTCAGA	0.572																																						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.(1576-1578)ctC>ctA		G protein-coupled receptor 97							205	181	189					16																	57722301		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57722301C>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.1578C>A	16.37:g.57722301C>A			Somatic				RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	p.L526L	NM_170776.4	NP_740746.4	WXS	Illumina GAIIx	Phase_I	Q86Y34	GPR97_HUMAN			12	1739	+			526					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1578C>A	CCDS10786.1																																																																																				0.572	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		7	179	7	179	---	---	---	---	A	57722301	C	A	57722301	2	1	158	1	0	0	0	0	0	0	0	1	6720	842	30	3		3	GPR97	16	57722301	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	30915	57722301	32632452	249	7314										
TPPP3	51673	broad.mit.edu	37	chr16	67424535	67424535	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atgacccgagcagacttcccCctgacaggcatgtgggcacc	11	15	0	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.chr16:67424535C>A	ENST00000564104.1	-	2	1030	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TPPP3_ENST00000393957.2_Splice_Site_p.K63N|TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	63					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGACTTCCCCCTGACAGGCA	0.532																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(187-189)aaG>aaT		tubulin polymerization-promoting protein family member 3							132	137	136					16																	67424535		2198	4300	6498	SO:0001630	splice_region_variant	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424535C>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.189-1G>T	16.37:g.67424535C>A			Somatic				TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|TPPP3_ENST00000393957.2_Splice_Site_p.K63N	p.K63N			WXS	Illumina GAIIx	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	2	1030	-		Ovarian(137;0.0563)	63					Q49AH9|Q9Y326|Q9Y6H0	Splice_Site	SNP	ENST00000564104.1	37	c.189G>T	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.254834	0.59212	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.58940	0.3;0.3	3.88	2.93	0.34026	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.93978	3.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	T	0.76621	-0.2892	10	0.72032	D	0.01	.	5.2725	0.15632	0.0:0.6542:0.0:0.3457	.	63	Q9BW30	TPPP3_HUMAN	N	63	ENSP00000377529:K63N;ENSP00000290942:K63N	ENSP00000290942:K63N	K	-	3	2	TPPP3	65982036	0.903000	0.30736	1.000000	0.80357	0.944000	0.59088	0.335000	0.19806	0.841000	0.35020	0.457000	0.33378	AAG		0.532	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964	Missense_Mutation	7	167	7	167	---	---	---	---	A	67424535	C	A	67424535	5	1	158	1	0	0	0	0	0	0	1	0	16412	637	22	1	349	1	TPPP3	16	67424535	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9702234	67424535	22930218	250	7315										
DHX38	9785	broad.mit.edu	37	chr16	72130760	72130760	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtagagactccatcccatccGggtggtgtgagcgaagagtt	14	9	0	3	rs147413193		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.chr16:72130760G>T	ENST00000268482.3	+	3	872	c.363G>T	c.(361-363)ccG>ccT	p.P121P	DHX38_ENST00000536867.1_Intron|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	121					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.P121P(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)				CATCCCATCCGGGTGGTGTGA	0.537																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			1	Substitution - coding silent(1)	p.P121P(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(361-363)ccG>ccT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							190	197	194					16																	72130760		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.chr16:72130760G>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.363G>T	16.37:g.72130760G>T			Somatic				DHX38_ENST00000536867.1_Intron	p.P121P	NM_014003.3	NP_054722.2	WXS	Illumina GAIIx	Phase_I	Q92620	PRP16_HUMAN			3	872	+		Ovarian(137;0.125)	121					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.363G>T	CCDS10907.1																																																																																				0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		9	279	9	279	---	---	---	---	T	72130760	G	T	72130760	2	4	158	1	0	0	0	0	0	0	0	1	4511	1103	39	1		1	DHX38	16	72130760	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4706225	72130760	18223993	251	7316										
PMFBP1	83449	broad.mit.edu	37	chr16	72184682	72184682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcgccaaatggagcttctccCctgtgttctcgttgtgattt	10	11	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.chr16:72184682C>A	ENST00000237353.10	-	5	722	c.461G>T	c.(460-462)gGg>gTg	p.G154V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V|PMFBP1_ENST00000537465.1_Missense_Mutation_p.G154V	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	154						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)				GAGCTTCTCCCCTGTGTTCTC	0.493																																						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.(460-462)gGg>gTg		polyamine modulated factor 1 binding protein 1							115	106	109					16																	72184682		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184682C>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	ENST00000237353.10:c.461G>T	16.37:g.72184682C>A	ENSP00000237353:p.Gly154Val		Somatic				PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V	p.G154V			WXS	Illumina GAIIx	Phase_I	Q8TBY8	PMFBP_HUMAN			5	619	-		Ovarian(137;0.179)	154					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.461G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349941	0.82132	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636;ENST00000535461	T;T;T	0.77489	-1.1;-1.1;2.57	6.17	5.22	0.72569	.	0.000000	0.52532	D	0.000061	T	0.78886	0.4354	N	0.24115	0.695	0.50313	D	0.999865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.988	T	0.76963	-0.2764	10	0.40728	T	0.16	-33.5071	11.8621	0.52471	0.0:0.9187:0.0:0.0813	.	154;154;154	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	V	154;154;9;154	ENSP00000443817:G154V;ENSP00000237353:G154V;ENSP00000347854:G9V	ENSP00000237353:G154V	G	-	2	0	PMFBP1	70742183	0.710000	0.27896	0.995000	0.50966	0.948000	0.59901	0.964000	0.29306	2.941000	0.99782	0.655000	0.94253	GGG		0.493	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		7	117	7	117	---	---	---	---	A	72184682	C	A	72184682	3	1	158	1	0	0	0	0	1	0	0	0	12134	623	22	1	2690	1	PMFBP1	16	72184682	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	53922	72184682	18170071	252	7317										
ZFHX3	463	broad.mit.edu	37	chr16	72829959	72829959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggattactgaagttgtaagGggagtccttgttacgctgcc	13	7	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.chr16:72829959G>T	ENST00000268489.5	-	9	7294	c.6622C>A	c.(6622-6624)Cct>Act	p.P2208T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2208					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)				AAGTTGTAAGGGGAGTCCTTG	0.527																																						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.(6622-6624)Cct>Act		zinc finger homeobox 3							104	102	103					16																	72829959		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.chr16:72829959G>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.6622C>A	16.37:g.72829959G>T	ENSP00000268489:p.Pro2208Thr		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	p.P2208T	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	7294	-		Ovarian(137;0.13)	2208					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6622C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263161	0.59431	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.91631	-2.88;-2.88	5.51	5.51	0.81932	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.49916	D	0.000133	D	0.95611	0.8573	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.95049	0.8185	10	0.48119	T	0.1	.	19.4092	0.94662	0.0:0.0:1.0:0.0	.	2208	Q15911	ZFHX3_HUMAN	T	2208;1294	ENSP00000268489:P2208T;ENSP00000438926:P1294T	ENSP00000268489:P2208T	P	-	1	0	ZFHX3	71387460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.570000	0.86706	0.561000	0.74099	CCT		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	127	7	127	---	---	---	---	T	72829959	G	T	72829959	3	4	158	1	0	0	0	0	1	0	0	0	17631	1232	43	1	4497	1	ZFHX3	16	72829959	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	645277	72829959	17524794	253	7318										
PKD1L2	114780	broad.mit.edu	37	chr16	81161416	81161416	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gggaccacgtagcctcctccCcggtacacagtgagtttgcc	11	15	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.chr16:81161416C>A	ENST00000534142.1	-	0	687				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTCCTCCCCGGTACACAG	0.527																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							63	62	62					16																	81161416		2008	4168	6176			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161416C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161416C>A			Somatic				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_001278425.1	NP_001265354.1	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			0	4354	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.527	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			5	46	5	46	---	---	---	---	A	81161416	C	A	81161416	1	1	158	0	1	0	0	0	0	0	0	0	11965	623	22	1		1	PKD1L2	16	81161416	RNA	SNP	C	TCGA-HC-7081-01A-11D-1961-08	8331457	81161416	9193337	254	7319										
IRF8	3394	broad.mit.edu	37	chr16	85952112	85952112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccgagggctgccgcctgtccCtgagccagcctgggctgccc	14	18	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.chr16:85952112C>A	ENST00000268638.5	+	7	1113	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	231					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)				CCGCCTGTCCCTGAGCCAGCC	0.687																																						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.(691-693)Ctg>Atg		interferon regulatory factor 8							34	41	38					16																	85952112		2178	4253	6431	SO:0001583	missense	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.chr16:85952112C>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.691C>A	16.37:g.85952112C>A	ENSP00000268638:p.Leu231Met		Somatic				IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	p.L231M	NM_002163.2	NP_002154.1	WXS	Illumina GAIIx	Phase_I	Q02556	IRF8_HUMAN			7	1113	+		Prostate(104;0.0771)	231					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.691C>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080597	0.76528	.	.	ENSG00000140968	ENST00000268638	D	0.94897	-3.55	4.95	3.98	0.46160	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.179844	0.37053	N	0.002267	D	0.95143	0.8426	L	0.57536	1.79	0.44780	D	0.997782	P	0.51147	0.942	P	0.60345	0.873	D	0.93594	0.6924	10	0.37606	T	0.19	-29.0502	11.3456	0.49559	0.0:0.9151:0.0:0.0849	.	231	Q02556	IRF8_HUMAN	M	231	ENSP00000268638:L231M	ENSP00000268638:L231M	L	+	1	2	IRF8	84509613	0.514000	0.26202	1.000000	0.80357	0.942000	0.58702	1.656000	0.37355	2.453000	0.82957	0.650000	0.86243	CTG		0.687	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		5	88	5	88	---	---	---	---	A	85952112	C	A	85952112	3	1	158	1	0	0	0	0	1	0	0	0	7836	680	24	1	713	1	IRF8	16	85952112	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4790696	85952112	4402641	255	7320										
MNT	4335	broad.mit.edu	37	chr17	2290812	2290812	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agggtgtgggtgtggaggcaGaggcgcaggggtggtgctgg	25	4	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.chr17:2290812G>T	ENST00000174618.4	-	6	1537	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	378					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)		tgtggaggcagaggcgcaggg	0.711																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1132-1134)Ctg>Atg		MAX network transcriptional repressor							65	77	73					17																	2290812		2201	4294	6495	SO:0001583	missense	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.chr17:2290812G>T	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.1132C>A	17.37:g.2290812G>T	ENSP00000174618:p.Leu378Met		Somatic				MNT_ENST00000575374.1_5'UTR	p.L378M	NM_020310.2	NP_064706.1	WXS	Illumina GAIIx	Phase_I	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1537	-			378					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1132C>A	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095909	0.20552	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.83075	-1.68	4.16	2.16	0.27623	.	2.373290	0.02263	N	0.067726	T	0.73426	0.3585	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.62932	-0.6749	10	0.45353	T	0.12	-0.1189	5.5774	0.17231	0.1102:0.2021:0.6877:0.0	.	378	Q99583	MNT_HUMAN	M	378	ENSP00000174618:L378M	ENSP00000174618:L378M	L	-	1	2	MNT	2237562	0.914000	0.31030	0.921000	0.36526	0.750000	0.42670	1.152000	0.31663	0.424000	0.26061	-0.189000	0.12847	CTG		0.711	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		6	119	6	119	---	---	---	---	T	2290812	G	T	2290812	3	4	158	1	0	0	0	0	1	0	0	0	9678	933	33	3	620	3	MNT	17	2290812	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		2290812	78904398	256	7321										
RAP1GAP2	23108	broad.mit.edu	37	chr17	2908722	2908722	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccacctctgcccagtcccccCgttttccagaaggtaggaca	8	17	1	1	rs202208175		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.chr17:2908722C>A	ENST00000254695.8	+	15	1350	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGTCCCCCCGTTTTCCAGA	0.562																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1258-1260)ccC>ccA		RAP1 GTPase activating protein 2							179	181	180					17																	2908722		1997	4190	6187	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2908722C>A	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1260C>A	17.37:g.2908722C>A			Somatic				RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	p.P420P	NM_015085.4	NP_055900.4	WXS	Illumina GAIIx	Phase_I	Q684P5	RPGP2_HUMAN			15	1350	+			420			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.1260C>A	CCDS45573.1																																																																																				0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			5	206	5	206	---	---	---	---	A	2908722	C	A	2908722	2	1	158	1	0	0	0	0	0	0	0	1	13038	639	23	1		1	RAP1GAP2	17	2908722	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	617910	2908722	78286488	257	7322										
ALOX15	246	broad.mit.edu	37	chr17	4542227	4542227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaggtcatatagtttggcccCagccatattcagaattaacc	8	10	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.chr17:4542227C>A	ENST00000570836.1	-	5	556	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W|ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	154	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)		AGTTTGGCCCCAGCCATATTC	0.537																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(460-462)Ggg>Tgg		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						105	102	103					17																	4542227		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542227C>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.460G>T	17.37:g.4542227C>A	ENSP00000458832:p.Gly154Trp		Somatic				ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W|ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W	p.G154W			WXS	Illumina GAIIx	Phase_I	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	5	556	-			154			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.460G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440140	0.63067	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.06849	3.25;3.25	4.58	4.58	0.56647	Lipoxygenase, C-terminal (2);	0.231428	0.33854	N	0.004485	T	0.22003	0.0530	L	0.55481	1.735	0.09310	N	0.999995	D;D;D	0.89917	0.999;0.984;1.0	D;D;D	0.68192	0.954;0.923;0.956	T	0.01238	-1.1409	10	0.87932	D	0	-1.4467	12.7251	0.57166	0.0:1.0:0.0:0.0	.	176;115;154	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	W	154;176	ENSP00000293761:G154W;ENSP00000439855:G176W	ENSP00000293761:G154W	G	-	1	0	ALOX15	4488976	0.013000	0.17824	0.044000	0.18714	0.014000	0.08584	2.808000	0.47963	2.381000	0.81170	0.655000	0.94253	GGG		0.537	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			6	135	6	135	---	---	---	---	A	4542227	C	A	4542227	3	1	158	1	0	0	0	0	1	0	0	0	538	594	21	1	1572	1	ALOX15	17	4542227	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1633505	4542227	76652983	258	7323										
ACAP1	9744	broad.mit.edu	37	chr17	7240646	7240646	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccagagcctctattgagctGgtggaagccgaagtgtcaga	13	10	2	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.chr17:7240646G>T	ENST00000158762.3	+	2	275	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	23	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						CTATTGAGCTGGTGGAAGCCG	0.582																																						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.(67-69)ctG>ctT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							149	138	142					17																	7240646		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.chr17:7240646G>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.69G>T	17.37:g.7240646G>T			Somatic					p.L23L	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			2	275	+			23			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.69G>T	CCDS11101.1																																																																																				0.582	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		6	130	6	130	---	---	---	---	T	7240646	G	T	7240646	2	4	158	1	0	0	0	0	0	0	0	1	118	1335	47	1		1	ACAP1	17	7240646	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2698419	7240646	73954564	259	7324										
MYH1	4619	broad.mit.edu	37	chr17	10415429	10415429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tttggtgacatactcattgcCgaccttgaccctagggtagc	10	11	1	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.chr17:10415429C>A	ENST00000226207.5	-	13	1322	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	410	Myosin motor.				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						TACTCATTGCCGACCTTGACC	0.463																																						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.(1228-1230)Ggc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							310	274	286					17																	10415429		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415429C>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.1228G>T	17.37:g.10415429C>A	ENSP00000226207:p.Gly410Cys		Somatic				RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.G410C	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			13	1322	-			410			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1228G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646525	0.67358	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.89415	-2.51	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000495	D	0.97219	0.9091	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98448	1.0590	10	0.87932	D	0	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	410	P12882	MYH1_HUMAN	C	410	ENSP00000226207:G410C	ENSP00000226207:G410C	G	-	1	0	MYH1	10356154	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	5.970000	0.70431	2.746000	0.94184	0.655000	0.94253	GGC		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		7	282	7	282	---	---	---	---	A	10415429	C	A	10415429	3	1	158	1	0	0	0	0	1	0	0	0	10029	652	23	1	4703	1	MYH1	17	10415429	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3174783	10415429	70779781	260	7325										
SSH2	85464	broad.mit.edu	37	chr17	27962986	27962986	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actataaagacagtttttacCtttgactgttcctcatccat	4	10	1	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.chr17:27962986C>A	ENST00000269033.3	-	14	2332	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	727					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						CAGTTTTTACCTTTGACTGTT	0.393																																						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.(2179-2181)aaG>aaT		slingshot protein phosphatase 2							115	125	122					17																	27962986		2203	4300	6503	SO:0001630	splice_region_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.chr17:27962986C>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.2181+1G>T	17.37:g.27962986C>A			Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	p.K727N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			14	2332	-			727					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Splice_Site	SNP	ENST00000269033.3	37	c.2181G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121092	0.77436	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.55052	0.54;0.54	6.17	6.17	0.99709	.	0.312090	0.39083	N	0.001480	T	0.73140	0.3549	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68534	-0.5383	9	.	.	.	-9.5438	20.8794	0.99867	0.0:1.0:0.0:0.0	.	754;727	F5H527;Q76I76	.;SSH2_HUMAN	N	727;754	ENSP00000269033:K727N;ENSP00000444743:K754N	.	K	-	3	2	SSH2	24987112	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.270000	0.65547	2.941000	0.99782	0.655000	0.94253	AAG		0.393	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	Missense_Mutation	8	209	8	209	---	---	---	---	A	27962986	C	A	27962986	5	1	158	1	0	0	0	0	0	0	1	0	15184	695	24	1	2098	1	SSH2	17	27962986	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	17547557	27962986	53232224	261	7326										
SLFN12	55106	broad.mit.edu	37	chr17	33749994	33749994	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctccaagagtgactcttccCacatctagaaccaactcggc	6	15	3	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.chr17:33749994C>A	ENST00000394562.1	-	4	577	c.54G>T	c.(52-54)gtG>gtT	p.V18V	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Silent_p.V18V|SLFN12_ENST00000304905.5_Silent_p.V18V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	18							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)		TGACTCTTCCCACATCTAGAA	0.403																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(52-54)gtG>gtT		schlafen family member 12							143	136	139					17																	33749994		2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33749994C>A	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.54G>T	17.37:g.33749994C>A			Somatic				SLFN12_ENST00000304905.5_Silent_p.V18V|SLFN12_ENST00000452764.3_Silent_p.V18V	p.V18V			WXS	Illumina GAIIx	Phase_I	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	577	-		Ovarian(249;0.17)	18					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.54G>T	CCDS11295.1																																																																																				0.403	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		6	177	6	177	---	---	---	---	A	33749994	C	A	33749994	2	1	158	1	0	0	0	0	0	0	0	1	14734	581	21	1		1	SLFN12	17	33749994	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5787008	33749994	47445216	262	7327										
SYNRG	11276	broad.mit.edu	37	chr17	35930983	35930983	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gactcattgcaggaacgcccCtctacaaatgatagaaagaa	8	10	2	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.chr17:35930983C>A	ENST00000339208.6	-	10	1240	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Splice_Site_p.R289M	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	367	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				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						AGGAACGCCCCTCTACAAATG	0.433																																						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.(1099-1101)aGg>aTg		synergin, gamma							92	99	97					17																	35930983		2203	4300	6503	SO:0001630	splice_region_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35930983C>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.1099-1G>T	17.37:g.35930983C>A			Somatic				SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000345615.4_Splice_Site_p.R289M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000591288.1_Intron	p.R367M	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			10	1240	-			367			EH.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Splice_Site	SNP	ENST00000339208.6	37	c.1100G>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859827	0.91433	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.44881	0.91;0.91;0.91	5.49	5.49	0.81192	EPS15 homology (EH) (1);EF-hand-like domain (1);	0.045456	0.85682	D	0.000000	T	0.60534	0.2276	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.65815	0.995;0.991;0.995;0.964;0.964	P;P;P;P;P	0.61722	0.893;0.893;0.893;0.643;0.643	T	0.61451	-0.7060	10	0.62326	D	0.03	-15.2357	19.3739	0.94501	0.0:1.0:0.0:0.0	.	289;289;289;367;367	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	M	367;367;289;289	ENSP00000005279:R367M;ENSP00000424893:R289M;ENSP00000377903:R289M	ENSP00000315722:R367M	R	-	2	0	SYNRG	33005096	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.279000	0.65597	2.592000	0.87571	0.555000	0.69702	AGG		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation	6	162	6	162	---	---	---	---	A	35930983	C	A	35930983	5	1	158	1	0	0	0	0	0	0	1	0	15457	695	24	1	2969	1	SYNRG	17	35930983	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2180989	35930983	45264227	263	7328										
CDK12	51755	broad.mit.edu	37	chr17	37627429	37627429	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttggagtctaaaaagttaccCagaagtgtaaaattggaaaa	9	4	1	1	rs557432023		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.chr17:37627429C>A	ENST00000447079.4	+	2	1377	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	CDK12_ENST00000430627.2_Silent_p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	448					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						AAAAGTTACCCAGAAGTGTAA	0.388			"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.(1342-1344)ccC>ccA		cyclin-dependent kinase 12							80	83	82					17																	37627429		2203	4300	6503	SO:0001819	synonymous_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.chr17:37627429C>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.1344C>A	17.37:g.37627429C>A		TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Silent_p.P448P	p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			2	1377	+			448					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.1344C>A	CCDS11337.1																																																																																				0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		5	95	5	95	---	---	---	---	A	37627429	C	A	37627429	2	1	158	1	0	0	0	0	0	0	0	1	3128	581	21	1		1	CDK12	17	37627429	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1696446	37627429	43567781	264	7329										
CASC3	22794	broad.mit.edu	37	chr17	38325650	38325650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggtgcagccaaagccctcccCaccccggaggactccccagc	10	20	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.chr17:38325650C>A	ENST00000264645.7	+	12	2265	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	680	Necessary for localization in cytoplasmic stress granules.				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						AAGCCCTCCCCACCCCGGAGG	0.582																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(2038-2040)cCa>cAa		cancer susceptibility candidate 3							74	69	71					17																	38325650		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.chr17:38325650C>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.2039C>A	17.37:g.38325650C>A	ENSP00000264645:p.Pro680Gln		Somatic					p.P680Q	NM_007359.4	NP_031385.2	WXS	Illumina GAIIx	Phase_I	O15234	CASC3_HUMAN			12	2265	+			680			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.2039C>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101359	0.76983	.	.	ENSG00000108349	ENST00000264645;ENST00000394114	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70443	-0.4870	9	0.87932	D	0	-8.3739	18.5194	0.90947	0.0:1.0:0.0:0.0	.	680	O15234	CASC3_HUMAN	Q	680	.	ENSP00000264645:P680Q	P	+	2	0	CASC3	35579176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.240000	0.78192	2.778000	0.95560	0.655000	0.94253	CCA		0.582	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		6	101	6	101	---	---	---	---	A	38325650	C	A	38325650	3	1	158	1	0	0	0	0	1	0	0	0	2661	594	21	1	2085	1	CASC3	17	38325650	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	698221	38325650	42869560	265	7330										
HAP1	9001	broad.mit.edu	37	chr17	39881202	39881202	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccacctcctcccagccctcGgtctcctctgacaccagctc	5	22	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.chr17:39881202G>T	ENST00000310778.5	-	12	1776	c.1767C>A	c.(1765-1767)acC>acA	p.T589T	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T|HAP1_ENST00000393939.2_Silent_p.T512T|HAP1_ENST00000347901.4_Silent_p.T537T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	589	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)	p.T537T(1)		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)			CCCAGCCCTCGGTCTCCTCTG	0.652																																						ENST00000393939.2																			1	Substitution - coding silent(1)	p.T537T(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1534-1536)acC>acA		huntingtin-associated protein 1							289	259	269					17																	39881202		2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881202G>T	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.1767C>A	17.37:g.39881202G>T			Somatic				HAP1_ENST00000310778.5_Silent_p.T589T|HAP1_ENST00000347901.4_Silent_p.T537T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T	p.T512T			WXS	Illumina GAIIx	Phase_I	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1545	-		Breast(137;0.000162)	589			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1536C>A																																																																																					0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		8	358	8	358	---	---	---	---	T	39881202	G	T	39881202	2	4	158	1	0	0	0	0	0	0	0	1	6953	1103	39	1		1	HAP1	17	39881202	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1555552	39881202	41314008	266	7331										
STAT5A	6776	broad.mit.edu	37	chr17	40453403	40453403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaacgtgcacatgaatccccCccaggtgaaggccaccatca	9	15	1	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.chr17:40453403C>A	ENST00000345506.4	+	10	1742	c.1100C>A	c.(1099-1101)cCc>cAc	p.P367H	STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|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)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|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)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 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 mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|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 transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|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)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|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)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAATCCCCCCCAGGTGAAG	0.567																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1099-1101)cCc>cAc		signal transducer and activator of transcription 5A							143	122	129					17																	40453403		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453403C>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1100C>A	17.37:g.40453403C>A	ENSP00000341208:p.Pro367His		Somatic				STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H	p.P367H	NM_003152.3	NP_003143.2	WXS	Illumina GAIIx	Phase_I	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1742	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	367					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.1100C>A	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555251	0.65425	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.88046	-2.33;-2.33;-2.33	4.6	3.63	0.41609	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.057740	0.64402	D	0.000001	D	0.91264	0.7246	L	0.56396	1.775	0.80722	D	1	P;D;D	0.89917	0.943;1.0;1.0	P;D;D	0.83275	0.764;0.996;0.995	D	0.91420	0.5158	10	0.87932	D	0	-13.6497	12.5688	0.56323	0.0:0.9185:0.0:0.0815	.	337;369;367	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	H	367;337;369;367	ENSP00000341208:P367H;ENSP00000443107:P337H;ENSP00000400320:P367H	ENSP00000341208:P367H	P	+	2	0	STAT5A	37706929	1.000000	0.71417	0.854000	0.33618	0.686000	0.39977	6.004000	0.70709	0.945000	0.37605	0.306000	0.20318	CCC		0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		6	83	6	83	---	---	---	---	A	40453403	C	A	40453403	3	1	158	1	0	0	0	0	1	0	0	0	15267	623	22	1	1130	1	STAT5A	17	40453403	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	572201	40453403	40741807	267	7332										
ATP6V0A1	535	broad.mit.edu	37	chr17	40647096	40647096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgatacattattttattgatGggtgtgttctccatgtacac	8	7	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.chr17:40647096G>T	ENST00000343619.4	+	13	1482	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	453					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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTTATTGATGGGTGTGTTCT	0.413																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1357-1359)atG>atT		ATPase, H+ transporting, lysosomal V0 subunit a1							302	266	278					17																	40647096		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40647096G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1359G>T	17.37:g.40647096G>T	ENSP00000342951:p.Met453Ile		Somatic				ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I	p.M453I	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	13	1482	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	453					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.1359G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657014	0.96724	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.95809	0.8636	H	0.96489	3.83	0.80722	D	1	D;D;D;P;P	0.60575	0.971;0.988;0.988;0.698;0.498	P;D;D;B;B	0.65874	0.902;0.91;0.939;0.338;0.297	D	0.96645	0.9477	10	0.87932	D	0	-32.3613	19.9279	0.97110	0.0:0.0:1.0:0.0	.	410;410;460;453;453	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	I	453;453;453;460;410;99	ENSP00000342951:M453I;ENSP00000444676:M453I;ENSP00000377415:M453I;ENSP00000264649:M460I;ENSP00000443991:M410I;ENSP00000446377:M99I	ENSP00000264649:M460I	M	+	3	0	ATP6V0A1	37900622	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.857000	0.99534	2.715000	0.92844	0.655000	0.94253	ATG		0.413	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		9	214	9	214	---	---	---	---	T	40647096	G	T	40647096	3	4	158	1	0	0	0	0	1	0	0	0	1168	1348	47	1	1426	1	ATP6V0A1	17	40647096	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	193693	40647096	40548114	268	7333										
EZH1	2145	broad.mit.edu	37	chr17	40864402	40864402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaaaagagattcttcagcccCagtccattccacaggctccg	7	14	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.chr17:40864402C>A	ENST00000428826.2	-	12	1427	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	436					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)		TCTTCAGCCCCAGTCCATTCC	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.(1306-1308)Ggg>Tgg		enhancer of zeste homolog 1 (Drosophila)							133	125	128					17																	40864402		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.chr17:40864402C>A		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.1306G>T	17.37:g.40864402C>A	ENSP00000404658:p.Gly436Trp		Somatic				EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W	p.G436W			WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	12	1427	-		Breast(137;0.00104)	436					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1306G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544687	0.86022	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.81579	-1.51;-1.51	5.23	5.23	0.72850	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.995;0.988;0.998	D;D;D;D;D	0.73708	0.981;0.98;0.98;0.967;0.974	D	0.91526	0.5238	10	0.87932	D	0	.	18.9873	0.92777	0.0:1.0:0.0:0.0	.	297;396;442;366;436	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	W	439;436;396;297	ENSP00000404658:G436W;ENSP00000404071:G297W	ENSP00000264646:G439W	G	-	1	0	EZH1	38117928	1.000000	0.71417	0.965000	0.40720	0.884000	0.51177	7.572000	0.82409	2.719000	0.93026	0.655000	0.94253	GGG		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	136	6	136	---	---	---	---	A	40864402	C	A	40864402	3	1	158	1	0	0	0	0	1	0	0	0	5333	594	21	1	977	1	EZH1	17	40864402	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	217306	40864402	40330808	269	7334										
DBF4B	80174	broad.mit.edu	37	chr17	42828262	42828262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttaagggcccactcctcttcCctgaagccagaccgtggctt	9	15	1	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.chr17:42828262C>A	ENST00000315005.3	+	14	1627	c.1489C>A	c.(1489-1491)Cct>Act	p.P497T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	497					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)				ACTCCTCTTCCCTGAAGCCAG	0.597																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1489-1491)Cct>Act		DBF4 homolog B (S. cerevisiae)							112	102	106					17																	42828262		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828262C>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.1489C>A	17.37:g.42828262C>A	ENSP00000323663:p.Pro497Thr		Somatic				DBF4B_ENST00000393547.2_Intron	p.P497T	NM_145663.2	NP_663696.1	WXS	Illumina GAIIx	Phase_I	Q8NFT6	DBF4B_HUMAN			14	1627	+		Prostate(33;0.0322)	497					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1489C>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166103	0.21621	.	.	ENSG00000161692	ENST00000315005	T	0.56776	0.44	2.87	0.847	0.18961	.	.	.	.	.	T	0.29126	0.0724	N	0.14661	0.345	0.09310	N	1	P	0.43024	0.798	B	0.38880	0.284	T	0.09422	-1.0675	8	.	.	.	.	5.0066	0.14291	0.0:0.7085:0.0:0.2915	.	497	Q8NFT6	DBF4B_HUMAN	T	497	ENSP00000323663:P497T	.	P	+	1	0	DBF4B	40183788	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.884000	0.04166	0.270000	0.21984	0.313000	0.20887	CCT		0.597	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		5	60	5	60	---	---	---	---	A	42828262	C	A	42828262	3	1	158	1	0	0	0	0	1	0	0	0	4249	623	22	1	1588	1	DBF4B	17	42828262	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1963860	42828262	38366948	270	7335										
KIAA1267	284058	broad.mit.edu	37	chr17	44159892	44159892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctctgggggaggtacctccCcaagaactatcaacccctgc	10	15	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.chr17:44159892C>A	ENST00000262419.6	-	4	1918	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	483					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)											AGGTACCTCCCCAAGAACTAT	0.388																																						ENST00000262419.6																			0											c.(1447-1449)gGg>gTg		KAT8 regulatory NSL complex subunit 1							68	68	68					17																	44159892		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44159892C>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.1448G>T	17.37:g.44159892C>A	ENSP00000262419:p.Gly483Val		Somatic				KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V	p.G483V	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			4	1918	-			483					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1448G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768774	0.49680	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.52754	0.65;0.65	4.8	4.8	0.61643	.	0.054578	0.64402	D	0.000001	T	0.57286	0.2043	L	0.41824	1.3	0.80722	D	1	D;P	0.71674	0.998;0.705	D;B	0.73380	0.98;0.264	T	0.51694	-0.8673	10	0.34782	T	0.22	-13.0219	13.5172	0.61547	0.0:1.0:0.0:0.0	.	483;483	C9JHY2;Q7Z3B3	.;K1267_HUMAN	V	483	ENSP00000262419:G483V;ENSP00000387393:G483V	ENSP00000262419:G483V	G	-	2	0	KIAA1267	41515711	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.533000	0.53561	2.652000	0.90054	0.555000	0.69702	GGG		0.388	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		5	36	5	36	---	---	---	---	A	44159892	C	A	44159892	3	1	158	1	0	0	0	0	1	0	0	0	8219	623	22	1	1917	1	KIAA1267	17	44159892	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1331630	44159892	37035318	271	7336										
HOXB3	3213	broad.mit.edu	37	chr17	46629480	46629480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtgagggtggagttggtgccGggaccgcactttgggggacc	20	8	0	1	rs182366697		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.chr17:46629480G>T	ENST00000470495.1	-	1	1804	c.357C>A	c.(355-357)ccC>ccA	p.P119P	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000498678.1_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron			P14651	HXB3_HUMAN	homeobox B3	119					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						AGTTGGTGCCGGGACCGCACT	0.602																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(355-357)ccC>ccA		homeobox B3							185	207	200					17																	46629480		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629480G>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.357C>A	17.37:g.46629480G>T			Somatic				HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.P119P	p.P119P			WXS	Illumina GAIIx	Phase_I	P14651	HXB3_HUMAN			1	1804	-			119					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.357C>A	CCDS11528.1																																																																																				0.602	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			9	303	9	303	---	---	---	---	T	46629480	G	T	46629480	2	4	158	1	0	0	0	0	0	0	0	1	7302	1103	39	1		1	HOXB3	17	46629480	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2469588	46629480	34565730	272	7337										
TEX14	56155	broad.mit.edu	37	chr17	56688674	56688674	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agcaggtgcacaatcacctcCatgtgcagcactgggaactg	11	12	1	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.chr17:56688674C>A	ENST00000240361.8	-	10	1135	c.1050G>T	c.(1048-1050)atG>atT	p.M350I	TEX14_ENST00000389934.3_Missense_Mutation_p.M344I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I			Q8IWB6	TEX14_HUMAN	testis expressed 14	350	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)					CAATCACCTCCATGTGCAGCA	0.507																																						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.(1030-1032)atG>atT		testis expressed 14							101	92	95					17																	56688674		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56688674C>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.1050G>T	17.37:g.56688674C>A	ENSP00000240361:p.Met350Ile		Somatic				TEX14_ENST00000240361.8_Missense_Mutation_p.M350I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I	p.M344I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	WXS	Illumina GAIIx	Phase_I	Q8IWB6	TEX14_HUMAN			10	1149	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		350			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1032G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642033	0.87859	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.40225	1.04;1.04;1.04	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.38953	1.18	0.46279	D	0.998968	P;P;P	0.50443	0.823;0.935;0.773	P;P;B	0.54759	0.564;0.76;0.336	T	0.48948	-0.8989	10	0.56958	D	0.05	-13.1113	17.735	0.88390	0.0:1.0:0.0:0.0	.	350;344;344	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	350;344;344	ENSP00000240361:M350I;ENSP00000374584:M344I;ENSP00000268910:M344I	ENSP00000240361:M350I	M	-	3	0	TEX14	54043673	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.061000	0.49963	2.527000	0.85204	0.462000	0.41574	ATG		0.507	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			6	84	6	84	---	---	---	---	A	56688674	C	A	56688674	3	1	158	1	0	0	0	0	1	0	0	0	15775	594	21	1	3539	1	TEX14	17	56688674	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	10059194	56688674	24506536	273	7338										
ACE	1636	broad.mit.edu	37	chr17	61562656	61562656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aggaatatgaccggacatccCaggtggtgtggaacgagtat	14	7	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.chr17:61562656C>A	ENST00000290866.4	+	13	2005	c.1981C>A	c.(1981-1983)Cag>Aag	p.Q661K	ACE_ENST00000421982.2_5'UTR|ACE_ENST00000577647.1_Missense_Mutation_p.Q87K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	661	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)	CCGGACATCCCAGGTGGTGTG	0.567																																						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.(259-261)Cag>Aag		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)						171	126	141					17																	61562656		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.chr17:61562656C>A	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.1981C>A	17.37:g.61562656C>A	ENSP00000290866:p.Gln661Lys		Somatic				ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000290866.4_Missense_Mutation_p.Q661K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K	p.Q87K			WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			2	304	+			661			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.259C>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388037	0.25118	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.09	4.11	0.48088	.	0.320357	0.31884	N	0.006904	T	0.28300	0.0699	L	0.48642	1.525	0.37358	D	0.911111	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.15052	0.012;0.001;0.001;0.001	T	0.14811	-1.0459	10	0.19147	T	0.46	-9.7348	8.8017	0.34912	0.1692:0.6672:0.1636:0.0	.	87;661;87;661	B4DXI3;P12821-2;P12821-3;P12821	.;.;.;ACE_HUMAN	K	661;661;87;87	ENSP00000290866:Q661K;ENSP00000397593:Q661K;ENSP00000290863:Q87K;ENSP00000392247:Q87K	ENSP00000290863:Q87K	Q	+	1	0	ACE	58916388	1.000000	0.71417	0.002000	0.10522	0.835000	0.47333	3.345000	0.52182	1.113000	0.41760	0.462000	0.41574	CAG		0.567	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	54	5	54	---	---	---	---	A	61562656	C	A	61562656	3	1	158	1	0	0	0	0	1	0	0	0	136	595	21	1	2234	1	ACE	17	61562656	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	4873982	61562656	19632554	274	7339										
SCN4A	6329	broad.mit.edu	37	chr17	62022837	62022837	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcagacttgttgttgacctcGgagatgtcgaacctctcaga	10	10	2	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.chr17:62022837G>T	ENST00000435607.1	-	19	3679	c.3603C>A	c.(3601-3603)tcC>tcA	p.S1201S	SCN4A_ENST00000578147.1_Silent_p.S1201S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1201					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)	TGTTGACCTCGGAGATGTCGA	0.537																																						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.(3601-3603)tcC>tcA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						247	248	248					17																	62022837		2196	4299	6495	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022837G>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.3603C>A	17.37:g.62022837G>T			Somatic				SCN4A_ENST00000578147.1_Silent_p.S1201S	p.S1201S	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			19	3679	-			1201					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3603C>A	CCDS45761.1																																																																																				0.537	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	316	6	316	---	---	---	---	T	62022837	G	T	62022837	2	4	158	1	0	0	0	0	0	0	0	1	13920	1103	39	1		1	SCN4A	17	62022837	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	460181	62022837	19172373	275	7340										
POLG2	11232	broad.mit.edu	37	chr17	62492936	62492936	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgggtgctcgccgttcccctCgagctccgcgtgcgacttca	12	16	1	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.chr17:62492936C>A	ENST00000539111.2	-	1	218	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	51					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)			CCGTTCCCCTCGAGCTCCGCG	0.607																																					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.(151-153)Gag>Tag		polymerase (DNA directed), gamma 2, accessory subunit							84	88	86					17																	62492936		2203	4300	6503	SO:0001587	stop_gained	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.chr17:62492936C>A	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.151G>T	17.37:g.62492936C>A	ENSP00000442563:p.Glu51*		Somatic					p.E51*	NM_007215.3	NP_009146.2	WXS	Illumina GAIIx	Phase_I	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	218	-	Breast(5;2.15e-14)		51					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Nonsense_Mutation	SNP	ENST00000539111.2	37	c.151G>T	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043275	0.75732	.	.	ENSG00000256525	ENST00000539111	.	.	.	4.45	3.47	0.39725	.	0.960451	0.08504	N	0.936008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.3558	8.7132	0.34395	0.0:0.3987:0.462:0.1393	.	.	.	.	X	51	.	ENSP00000442563:E51X	E	-	1	0	POLG2	59923398	0.008000	0.16893	0.002000	0.10522	0.010000	0.07245	0.587000	0.23909	1.107000	0.41642	-0.270000	0.10280	GAG		0.607	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		5	160	5	160	---	---	---	---	A	62492936	C	A	62492936	4	1	158	1	0	0	0	0	0	1	0	0	12201	893	31	3	1338	3	POLG2	17	62492936	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	470099	62492936	18702274	276	7341										
SOX9	6662	broad.mit.edu	37	chr17	70119738	70119738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccccaaaaccgacgtgcagcCgggcaaggctgacctgaagc	12	15	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.chr17:70119738C>A	ENST00000245479.2	+	3	1112	c.740C>A	c.(739-741)cCg>cAg	p.P247Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	247					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)			GACGTGCAGCCGGGCAAGGCT	0.632																																					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.(739-741)cCg>cAg		SRY (sex determining region Y)-box 9							74	97	89					17																	70119738		2203	4300	6503	SO:0001583	missense	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.chr17:70119738C>A	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.740C>A	17.37:g.70119738C>A	ENSP00000245479:p.Pro247Gln		Somatic					p.P247Q	NM_000346.3	NP_000337.1	WXS	Illumina GAIIx	Phase_I	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1112	+		Colorectal(1115;0.245)	247					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.740C>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702157	0.68501	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.83591	-1.74	4.68	4.68	0.58851	.	0.373699	0.27691	N	0.018255	D	0.86740	0.6005	M	0.75447	2.3	0.58432	D	0.999996	P	0.52842	0.956	P	0.52217	0.693	D	0.84918	0.0852	10	0.19590	T	0.45	.	17.1828	0.86859	0.0:1.0:0.0:0.0	.	247	P48436	SOX9_HUMAN	Q	247	ENSP00000245479:P247Q	ENSP00000245479:P247Q	P	+	2	0	SOX9	67631333	0.997000	0.39634	0.980000	0.43619	0.840000	0.47671	4.559000	0.60796	2.145000	0.66743	0.462000	0.41574	CCG		0.632	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		5	190	5	190	---	---	---	---	A	70119738	C	A	70119738	3	1	158	1	0	0	0	0	1	0	0	0	14958	652	23	1	750	1	SOX9	17	70119738	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7626802	70119738	11075472	277	7342										
RECQL5	9400	broad.mit.edu	37	chr17	73658781	73658781	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccacacaaggggcatgtccCaggcgggagcgcagggcacc	16	14	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.chr17:73658781C>A	ENST00000317905.5	-	4	708	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000420326.2_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L|RECQL5_ENST00000584999.1_Silent_p.L183L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			GGGCATGTCCCAGGCGGGAGC	0.577								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			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.(547-549)ctG>ctT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							120	127	125					17																	73658781		2203	4300	6503	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.chr17:73658781C>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.549G>T	17.37:g.73658781C>A			Somatic				RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000584999.1_Silent_p.L183L|RECQL5_ENST00000317905.5_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L	p.L183L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	WXS	Illumina GAIIx	Phase_I	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)		4	708	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		183			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.549G>T	CCDS42380.1																																																																																				0.577	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		8	244	8	244	---	---	---	---	A	73658781	C	A	73658781	2	1	158	1	0	0	0	0	0	0	0	1	13203	581	21	1		1	RECQL5	17	73658781	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3539043	73658781	7536429	278	7343										
RNF213	57674	broad.mit.edu	37	chr17	78354681	78354681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgtgctgggcaacccgcagcGgagagacgtggtgacatgtg	17	10	0	2	rs371619739		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.chr17:78354681G>T	ENST00000582970.1	+	56	13834	c.13691G>T	c.(13690-13692)cGg>cTg	p.R4564L	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4564					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)			AACCCGCAGCGGAGAGACGTG	0.607																																						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.(13690-13692)cGg>cTg		ring finger protein 213							176	180	179					17																	78354681		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78354681G>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.13691G>T	17.37:g.78354681G>T	ENSP00000464087:p.Arg4564Leu		Somatic				CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L	p.R4564L	NM_001256071.1	NP_001243000.1	WXS	Illumina GAIIx	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		56	13834	+	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.13691G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784271	0.31593	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24350	1.86	5.26	-10.1	0.00402	.	5.013340	0.00397	N	0.000053	T	0.15912	0.0383	L	0.39898	1.24	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.09377	0.002;0.004	T	0.10543	-1.0625	10	0.26408	T	0.33	.	5.468	0.16654	0.518:0.1277:0.2876:0.0666	.	4613;2637	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4564;4613;2637	ENSP00000338218:R2637L	ENSP00000338218:R2637L	R	+	2	0	RNF213	75969276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.212000	0.17497	-1.377000	0.02123	-2.244000	0.00286	CGG		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	263	5	263	---	---	---	---	T	78354681	G	T	78354681	3	4	158	1	0	0	0	0	1	0	0	0	13477	1116	39	1	14228	1	RNF213	17	78354681	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4695900	78354681	2840529	279	7344										
THOC4	10189	broad.mit.edu	37	chr17	79848574	79848574	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcgtctcttacctgaatatcGgcgtctgagactccaaaatc	7	12	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.chr17:79848574G>T	ENST00000331204.4	-	2	386	c.360C>A	c.(358-360)gcC>gcA	p.A120A	ANAPC11_ENST00000578544.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ALYREF_ENST00000505490.2_Silent_p.A127A|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000572851.2_5'Flank|ANAPC11_ENST00000344877.5_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	120	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)										CCTGAATATCGGCGTCTGAGA	0.592																																						ENST00000331204.4																			0											c.(358-360)gcC>gcA		Aly/REF export factor							82	74	77					17																	79848574		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:79848574G>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.360C>A	17.37:g.79848574G>T			Somatic				ALYREF_ENST00000505490.2_Silent_p.A127A|ALYREF_ENST00000512673.1_5'UTR	p.A120A	NM_005782.3	NP_005773.3	WXS	Illumina GAIIx	Phase_I	Q86V81	THOC4_HUMAN			2	386	-			120			Ala/Arg/Gly-rich.|RRM.		O43672	Silent	SNP	ENST00000331204.4	37	c.360C>A																																																																																					0.592	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782		5	91	5	91	---	---	---	---	T	79848574	G	T	79848574	2	4	158	1	0	0	0	0	0	0	0	1	15864	1103	39	1		1	THOC4	17	79848574	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1493893	79848574	1346636	280	7345										
MC5R	4161	broad.mit.edu	37	chr18	13826433	13826433	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aagcggatcgcggctctgccCggggccagctctgcgcggca	16	15	2	0	rs142471410		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.chr18:13826433C>A	ENST00000324750.3	+	1	891	c.669C>A	c.(667-669)ccC>ccA	p.P223P	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	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)	p.P223P(1)		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						CGGCTCTGCCCGGGGCCAGCT	0.622													C|||	1	0.000199681	0	0	5008	,	,		19543	0.001		0	False		,,,				2504	0					ENST00000324750.3																			1	Substitution - coding silent(1)	p.P223P(1)	lung(1)	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.(667-669)ccC>ccA		melanocortin 5 receptor							233	201	212					18																	13826433		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.chr18:13826433C>A	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.669C>A	18.37:g.13826433C>A			Somatic					p.P223P	NM_005913.2	NP_005904.1	WXS	Illumina GAIIx	Phase_I	P33032	MC5R_HUMAN			1	891	+			223	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).				B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.669C>A	CCDS11868.1																																																																																				0.622	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		6	274	6	274	---	---	---	---	A	13826433	C	A	13826433	2	1	158	1	0	0	0	0	0	0	0	1	9367	639	23	1		1	MC5R	18	13826433	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		13826433	64250815	281	7346										
DCC	1630	broad.mit.edu	37	chr18	50848421	50848421	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaaaattctttcataggactGgagaaaggaagtcagtacag	11	5	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.chr18:50848421G>T	ENST00000442544.2	+	14	2674	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	DCC_ENST00000412726.1_Silent_p.L534L|DCC_ENST00000581580.1_Silent_p.L341L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	686	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCATAGGACTGGAGAAAGGAA	0.438																																						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.(2056-2058)ctG>ctT		deleted in colorectal carcinoma							107	102	103					18																	50848421		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.chr18:50848421G>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.2058G>T	18.37:g.50848421G>T			Somatic				DCC_ENST00000581580.1_Silent_p.L341L|DCC_ENST00000412726.1_Silent_p.L534L	p.L686L	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	14	2674	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	686			Fibronectin type-III 3.			Silent	SNP	ENST00000442544.2	37	c.2058G>T	CCDS11952.1																																																																																				0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	99	5	99	---	---	---	---	T	50848421	G	T	50848421	2	4	158	1	0	0	0	0	0	0	0	1	4282	1335	47	1		1	DCC	18	50848421	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	37021988	50848421	27228827	282	7347										
WDR7	23335	broad.mit.edu	37	chr18	54591261	54591261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggacgtgggttcactgtttGggagccttacatggatgtgt	15	6	1	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.chr18:54591261G>T	ENST00000254442.3	+	22	3846	c.3635G>T	c.(3634-3636)tGg>tTg	p.W1212L	WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1212					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)		TTCACTGTTTGGGAGCCTTAC	0.502																																						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.(3634-3636)tGg>tTg		WD repeat domain 7							204	173	184					18																	54591261		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591261G>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.3635G>T	18.37:g.54591261G>T	ENSP00000254442:p.Trp1212Leu		Somatic				WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	p.W1212L	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3846	+			1212					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3635G>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690601	0.88735	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.61392	0.11;2.3	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.67397	2.05	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.78314	0.991;0.979	T	0.77803	-0.2451	10	0.87932	D	0	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	1179;1212	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	1212;1179;537;1179	ENSP00000254442:W1212L;ENSP00000350187:W1179L	ENSP00000254442:W1212L	W	+	2	0	WDR7	52742259	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	TGG		0.502	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	165	6	165	---	---	---	---	T	54591261	G	T	54591261	3	4	158	1	0	0	0	0	1	0	0	0	17317	1357	47	1	3717	1	WDR7	18	54591261	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	3742840	54591261	23485987	283	7348										
MCOLN1	57192	broad.mit.edu	37	chr19	7595295	7595295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcctggtgtggctcttctccCagctctacctttactccttc	7	16	3	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.chr19:7595295C>A	ENST00000264079.6	+	12	1608	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	495					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCTTCTCCCAGCTCTACCT	0.587																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1483-1485)Cag>Aag		mucolipin 1							256	240	246					19																	7595295		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595295C>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1483C>A	19.37:g.7595295C>A	ENSP00000264079:p.Gln495Lys		Somatic					p.Q495K	NM_020533.2	NP_065394.1	WXS	Illumina GAIIx	Phase_I	Q9GZU1	MCLN1_HUMAN			12	1608	+			495					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1483C>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990837	0.74703	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69435	-0.4	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	N	0.17800	0.525	0.80722	D	1	B;B	0.28470	0.094;0.213	B;B	0.28139	0.084;0.086	T	0.51172	-0.8739	10	0.32370	T	0.25	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	460;495	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	K	495;460	ENSP00000264079:Q495K	ENSP00000264079:Q495K	Q	+	1	0	MCOLN1	7501295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.694000	0.61760	2.478000	0.83669	0.563000	0.77884	CAG		0.587	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		8	349	8	349	---	---	---	---	A	7595295	C	A	7595295	3	1	158	1	0	0	0	0	1	0	0	0	9395	595	21	1	1529	1	MCOLN1	19	7595295	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		7595295	51533688	284	7349										
FCER2	2208	broad.mit.edu	37	chr19	7764643	7764643	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	acctgaatattgaccttcctCcatggcggtcctgcttggat	9	12	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.chr19:7764643C>A	ENST00000346664.5	-	2	216	c.4G>T	c.(4-6)Gag>Tag	p.E2*	FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*|FCER2_ENST00000360067.4_5'Flank	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	2					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGACCTTCCTCCATGGCGGTC	0.542																																						ENST00000346664.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(4-6)Gag>Tag		Fc fragment of IgE, low affinity II, receptor for (CD23)							187	132	151					19																	7764643		2203	4300	6503	SO:0001587	stop_gained	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7764643C>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.4G>T	19.37:g.7764643C>A	ENSP00000264072:p.Glu2*		Somatic				FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*	p.E2*	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	WXS	Illumina GAIIx	Phase_I	P06734	FCER2_HUMAN			2	216	-			2						Nonsense_Mutation	SNP	ENST00000346664.5	37	c.4G>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158852	0.94686	.	.	ENSG00000104921	ENST00000346664	.	.	.	4.29	4.29	0.51040	.	0.000000	0.37095	N	0.002249	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.4508	0.55677	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000264072:E2X	E	-	1	0	FCER2	7670643	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.562000	0.36353	2.385000	0.81259	0.655000	0.94253	GAG		0.542	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		6	73	6	73	---	---	---	---	A	7764643	C	A	7764643	4	1	158	1	0	0	0	0	0	1	0	0	5776	864	30	3	1001	3	FCER2	19	7764643	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	169348	7764643	51364340	285	7350										
MUC16	94025	broad.mit.edu	37	chr19	9050229	9050229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ggtctccattctttttgtccCtcctgtgtgtagtcctgtaa	8	11	2	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.chr19:9050229C>A	ENST00000397910.4	-	5	31605	c.31402G>T	c.(31402-31404)Ggg>Tgg	p.G10468W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10470	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						CTTTTTGTCCCTCCTGTGTGT	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.(31402-31404)Ggg>Tgg		mucin 16, cell surface associated							295	287	290					19																	9050229		2047	4192	6239	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9050229C>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.31402G>T	19.37:g.9050229C>A	ENSP00000381008:p.Gly10468Trp		Somatic					p.G10468W	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	31605	-			10470			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31402G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.496	0.276464	0.10403	.	.	ENSG00000181143	ENST00000397910	T	0.03689	3.84	4.09	0.768	0.18487	.	.	.	.	.	T	0.03011	0.0089	L	0.36672	1.1	.	.	.	B	0.31459	0.324	B	0.25987	0.065	T	0.35276	-0.9795	8	0.87932	D	0	.	3.4486	0.07490	0.2157:0.569:0.0:0.2152	.	10468	B5ME49	.	W	10468	ENSP00000381008:G10468W	ENSP00000381008:G10468W	G	-	1	0	MUC16	8911229	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.022000	0.12480	0.261000	0.21753	0.580000	0.79431	GGG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	305	7	305	---	---	---	---	A	9050229	C	A	9050229	3	1	158	1	0	0	0	0	1	0	0	0	9973	681	24	1	12441	1	MUC16	19	9050229	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1285586	9050229	50078754	286	7351										
ICAM3	3385	broad.mit.edu	37	chr19	10445903	10445903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcgcattcagcatctggtccCccagcgccaggtagacctgg	11	15	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.chr19:10445903C>A	ENST00000160262.5	-	4	984	c.776G>T	c.(775-777)gGg>gTg	p.G259V	ICAM3_ENST00000589261.1_Missense_Mutation_p.G182V|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	259	Ig-like C2-type 3.				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)			CATCTGGTCCCCCAGCGCCAG	0.662																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(544-546)gGg>gTg		intercellular adhesion molecule 3							99	108	105					19																	10445903		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445903C>A		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.776G>T	19.37:g.10445903C>A	ENSP00000160262:p.Gly259Val		Somatic				ICAM3_ENST00000160262.5_Missense_Mutation_p.G259V	p.G182V			WXS	Illumina GAIIx	Phase_I	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	1077	-			259			Ig-like C2-type 2.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.545G>T	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676032	0.67928	.	.	ENSG00000076662	ENST00000160262	T	0.08102	3.13	5.06	5.06	0.68205	Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000065	T	0.31389	0.0795	M	0.82517	2.595	0.49130	D	0.999756	D	0.89917	1.0	D	0.79784	0.993	T	0.04915	-1.0918	10	0.87932	D	0	-40.1548	14.2468	0.65993	0.0:1.0:0.0:0.0	.	259	P32942	ICAM3_HUMAN	V	259	ENSP00000160262:G259V	ENSP00000160262:G259V	G	-	2	0	ICAM3	10306903	0.989000	0.36119	0.946000	0.38457	0.396000	0.30629	3.674000	0.54598	2.492000	0.84095	0.462000	0.41574	GGG		0.662	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			7	170	7	170	---	---	---	---	A	10445903	C	A	10445903	3	1	158	1	0	0	0	0	1	0	0	0	7481	623	22	1	883	1	ICAM3	19	10445903	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1395674	10445903	48683080	287	7352										
ZNF69	7620	broad.mit.edu	37	chr19	12015573	12015573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccaggagaagaaagcttctCctgaaataaaatcatgtgac	8	8	2	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.chr19:12015573C>A	ENST00000429654.2	+	4	501	c.361C>A	c.(361-363)Cct>Act	p.P121T	ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	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(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAAAGCTTCTCCTGAAATAAA	0.398																																						ENST00000429654.2																			0				endometrium(1)|large_intestine(1)|skin(2)	4						c.(361-363)Cct>Act		zinc finger protein 69							150	153	152					19																	12015573		2203	4300	6503	SO:0001583	missense	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:12015573C>A	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"Zinc fingers, C2H2-type", "-"	13138	protein-coding gene	gene with protein product		194543	"zinc finger protein 69 (Cos5)"			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.361C>A	19.37:g.12015573C>A	ENSP00000402985:p.Pro121Thr		Somatic				ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T	p.P121T			WXS	Illumina GAIIx	Phase_I	Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	4	501	+			121					Q86VA7	Missense_Mutation	SNP	ENST00000429654.2	37	c.361C>A		.	.	.	.	.	.	.	.	.	.	c	3.316	-0.139818	0.06669	.	.	ENSG00000198429	ENST00000429654;ENST00000445911;ENST00000340180	T;T;T	0.07567	3.18;4.41;4.47	1.05	-1.91	0.07641	.	.	.	.	.	T	0.03136	0.0092	N	0.03177	-0.4	0.09310	N	1	P	0.47545	0.897	P	0.47941	0.562	T	0.10132	-1.0643	9	0.02654	T	1	.	2.6274	0.04933	0.4932:0.263:0.0:0.2438	.	107	C9JR48	.	T	121;107;107	ENSP00000402985:P121T;ENSP00000388784:P107T;ENSP00000345333:P107T	ENSP00000345333:P107T	P	+	1	0	ZNF69	11876573	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.679000	0.05217	-0.491000	0.04670	CCT		0.398	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		6	193	6	193	---	---	---	---	A	12015573	C	A	12015573	3	1	158	1	0	0	0	0	1	0	0	0	18092	855	30	3	333	3	ZNF69	19	12015573	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1569670	12015573	47113410	288	7353										
C19orf57	79173	broad.mit.edu	37	chr19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tggaactctgggggtccccaTagaagtctcctagccttggg	13	11	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.chr19:14006305T>G	ENST00000586783.1	-	2	85	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000454313.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_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		Somatic				C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S	p.Y29S			WXS	Illumina GAIIx	Phase_I	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	8	232	---	---	---	---	G	14006305	T	G	14006305	3	3	158	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	1990732	14006305	45122678	289	7354										
AKAP8L	26993	broad.mit.edu	37	chr19	15512026	15512026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttcatgccattgccaaaccCgaaaccaaagcgggagccgc	9	15	1	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.chr19:15512026C>A	ENST00000397410.5	-	5	881	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	251						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)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGCCAAACCCGAAACCAAAG	0.627																																						ENST00000397410.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(751-753)Ggg>Tgg		A kinase (PRKA) anchor protein 8-like							129	145	140					19																	15512026		1966	4139	6105	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512026C>A	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.751G>T	19.37:g.15512026C>A	ENSP00000380557:p.Gly251Trp		Somatic				AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W|AKAP8L_ENST00000595879.1_5'UTR	p.G251W	NM_014371.2	NP_055186.2	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			5	881	-								B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.751G>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511884	0.64522	.	.	ENSG00000011243	ENST00000397410	T	0.59224	0.28	4.74	3.71	0.42584	.	0.127305	0.51477	D	0.000081	T	0.64638	0.2616	L	0.43923	1.385	0.32121	N	0.588056	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.979;1.0	T	0.69258	-0.5192	10	0.87932	D	0	-17.8142	7.8871	0.29656	0.0:0.8894:0.0:0.1106	.	190;21;251;251	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	251	ENSP00000380557:G251W	ENSP00000380557:G251W	G	-	1	0	AKAP8L	15373026	0.989000	0.36119	0.752000	0.31206	0.936000	0.57629	2.765000	0.47621	2.194000	0.70268	0.491000	0.48974	GGG		0.627	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		8	298	8	298	---	---	---	---	A	15512026	C	A	15512026	3	1	158	1	0	0	0	0	1	0	0	0	458	652	23	1	1229	1	AKAP8L	19	15512026	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1505721	15512026	43616957	290	7355										
KLHL26	55295	broad.mit.edu	37	chr19	18775156	18775156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tgcagggcctggccaccctcCgcgctcagggccagctcctc	12	19	1	0	rs202208933		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.chr19:18775156C>A	ENST00000300976.4	+	2	259	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	57										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCCTCCGCGCTCAGGG	0.632																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(169-171)Cgc>Agc		kelch-like family member 26							94	104	100					19																	18775156		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775156C>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.169C>A	19.37:g.18775156C>A	ENSP00000300976:p.Arg57Ser		Somatic				KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S|KLHL26_ENST00000596843.1_3'UTR	p.R57S	NM_018316.1	NP_060786.1	WXS	Illumina GAIIx	Phase_I	Q53HC5	KLH26_HUMAN			2	259	+			57					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.169C>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606781	0.87157	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.72942	-0.7	4.14	4.14	0.48551	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91385	0.5130	10	0.87932	D	0	.	15.7475	0.77958	0.0:1.0:0.0:0.0	.	57	Q53HC5	KLH26_HUMAN	S	57	ENSP00000300976:R57S	ENSP00000300976:R57S	R	+	1	0	KLHL26	18636156	1.000000	0.71417	0.247000	0.24249	0.891000	0.51852	4.558000	0.60789	2.016000	0.59253	0.561000	0.74099	CGC		0.632	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		5	187	5	187	---	---	---	---	A	18775156	C	A	18775156	3	1	158	1	0	0	0	0	1	0	0	0	8381	652	23	1	175	1	KLHL26	19	18775156	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3263130	18775156	40353827	291	7356										
GMIP	51291	broad.mit.edu	37	chr19	19741286	19741286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tctaacatactcaccttcccCtcccccatctttggtgtctt	3	17	4	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.chr19:19741286C>A	ENST00000203556.4	-	20	2670	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	LPAR2_ENST00000407877.3_5'Flank|LPAR2_ENST00000586703.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W|LPAR2_ENST00000542587.1_5'Flank|LPAR2_ENST00000589311.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	845					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						TCACCTTCCCCTCCCCCATCT	0.537																																						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.(2533-2535)Ggg>Tgg		GEM interacting protein							182	161	168					19																	19741286		2203	4300	6503	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.chr19:19741286C>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.2533G>T	19.37:g.19741286C>A	ENSP00000203556:p.Gly845Trp		Somatic				GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W	p.G845W	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			20	2670	-			845					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2533G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455679	0.43634	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.24908	1.85;1.83	3.91	1.8	0.24995	.	1.037320	0.07689	N	0.938412	T	0.27384	0.0672	L	0.27053	0.805	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.53722	0.733;0.733;0.733	T	0.20240	-1.0281	10	0.72032	D	0.01	-6.8279	6.2339	0.20752	0.0:0.775:0.0:0.225	.	816;819;845	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	W	845;816	ENSP00000203556:G845W;ENSP00000397075:G816W	ENSP00000203556:G845W	G	-	1	0	GMIP	19602286	0.002000	0.14202	0.060000	0.19600	0.881000	0.50899	0.933000	0.28897	0.635000	0.30488	0.561000	0.74099	GGG		0.537	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		7	115	7	115	---	---	---	---	A	19741286	C	A	19741286	3	1	158	1	0	0	0	0	1	0	0	0	6491	681	24	1	387	1	GMIP	19	19741286	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	966130	19741286	39387697	292	7357										
TSHZ3	57616	broad.mit.edu	37	chr19	31769525	31769525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cagggtgtcatgcgagctccCacactccatgcacttcagga	10	14	2	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.chr19:31769525C>A	ENST00000240587.4	-	2	1501	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	392					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)					TGCGAGCTCCCACACTCCATG	0.547																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1174-1176)Ggg>Tgg		teashirt zinc finger homeobox 3							169	158	162					19																	31769525		2203	4300	6503	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.chr19:31769525C>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.1174G>T	19.37:g.31769525C>A	ENSP00000240587:p.Gly392Trp		Somatic					p.G392W	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1501	-	Esophageal squamous(110;0.226)		392					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1174G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718510	0.68844	.	.	ENSG00000121297	ENST00000240587	T	0.37411	1.2	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53774	-0.8391	10	0.87932	D	0	-40.8612	19.8932	0.96939	0.0:1.0:0.0:0.0	.	392	Q63HK5	TSH3_HUMAN	W	392	ENSP00000240587:G392W	ENSP00000240587:G392W	G	-	1	0	TSHZ3	36461365	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.461000	0.80834	2.698000	0.92095	0.655000	0.94253	GGG		0.547	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	187	6	187	---	---	---	---	A	31769525	C	A	31769525	3	1	158	1	0	0	0	0	1	0	0	0	16622	594	21	1	2075	1	TSHZ3	19	31769525	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	12028239	31769525	27359458	293	7358										
SLC7A10	56301	broad.mit.edu	37	chr19	33706825	33706825	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gggccagacccacggagcctGagtgctccaggacccccttg	13	16	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.chr19:33706825G>T	ENST00000253188.4	-	2	352	c.206C>A	c.(205-207)tCa>tAa	p.S69*	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	69					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGCCTGAGTGCTCCAG	0.667																																						ENST00000253188.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(205-207)tCa>tAa		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							33	33	33					19																	33706825		2200	4298	6498	SO:0001587	stop_gained	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706825G>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.206C>A	19.37:g.33706825G>T	ENSP00000253188:p.Ser69*		Somatic					p.S69*	NM_019849.2	NP_062823.1	WXS	Illumina GAIIx	Phase_I	Q9NS82	AAA1_HUMAN			2	352	-	Esophageal squamous(110;0.137)							B2RE84	Nonsense_Mutation	SNP	ENST00000253188.4	37	c.206C>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715961	0.96830	.	.	ENSG00000130876	ENST00000253188	.	.	.	4.79	3.74	0.42951	.	0.285244	0.33438	N	0.004907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1759	0.65542	0.0:0.1509:0.8491:0.0	.	.	.	.	X	69	.	ENSP00000253188:S69X	S	-	2	0	SLC7A10	38398665	1.000000	0.71417	0.763000	0.31416	0.728000	0.41692	5.550000	0.67268	1.025000	0.39708	0.456000	0.33151	TCA		0.667	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		4	30	4	30	---	---	---	---	T	33706825	G	T	33706825	4	4	158	1	0	0	0	0	0	1	0	0	14693	1294	45	3	1405	3	SLC7A10	19	33706825	Nonsense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1937300	33706825	25422158	294	7359										
GPI	2821	broad.mit.edu	37	chr19	34884859	34884859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcccctggagaagaacgcccCcgtcttgctggccctgctgg	13	16	1	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.chr19:34884859C>A	ENST00000356487.5	+	12	1191	c.950C>A	c.(949-951)cCc>cAc	p.P317H	GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000415930.3_Missense_Mutation_p.P328H	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	317					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)					AAGAACGCCCCCGTCTTGCTG	0.617																																						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.(982-984)cCc>cAc		glucose-6-phosphate isomerase							118	112	114					19																	34884859		2203	4300	6503	SO:0001583	missense	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.chr19:34884859C>A	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.950C>A	19.37:g.34884859C>A	ENSP00000348877:p.Pro317His		Somatic				GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000356487.5_Missense_Mutation_p.P317H	p.P328H	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			12	1153	+	Esophageal squamous(110;0.162)		317					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.983C>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927814	0.52759	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94758	-3.51;-3.51	5.65	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	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	0.97110	0.999;1.0;0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	-0.3343	15.9231	0.79590	0.1364:0.8636:0.0:0.0	.	289;328;290;317	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	H	328;317	ENSP00000405573:P328H;ENSP00000348877:P317H	ENSP00000348877:P317H	P	+	2	0	GPI	39576699	1.000000	0.71417	0.814000	0.32528	0.001000	0.01503	7.487000	0.81328	1.373000	0.46208	-0.188000	0.12872	CCC		0.617	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			6	151	6	151	---	---	---	---	A	34884859	C	A	34884859	3	1	158	1	0	0	0	0	1	0	0	0	6611	623	22	1	1117	1	GPI	19	34884859	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1178034	34884859	24244124	295	7360										
MAG	4099	broad.mit.edu	37	chr19	35786796	35786796	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctgctcagcaacgtcagcccCgagctgggcgggaagtacta	13	13	2	0	rs11550209		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.chr19:35786796C>A	ENST00000392213.3	+	4	486	c.327C>A	c.(325-327)ccC>ccA	p.P109P	MAG_ENST00000361922.4_Silent_p.P109P|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000597035.1_Intron	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	109	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)			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)			ACGTCAGCCCCGAGCTGGGCG	0.647																																						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.(325-327)ccC>ccA		myelin associated glycoprotein							99	104	102					19																	35786796		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.chr19:35786796C>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.327C>A	19.37:g.35786796C>A			Somatic				MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000392213.3_Silent_p.P109P	p.P109P	NM_080600.2	NP_542167.1	WXS	Illumina GAIIx	Phase_I	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	477	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	109			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.327C>A	CCDS12455.1																																																																																				0.647	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	188	5	188	---	---	---	---	A	35786796	C	A	35786796	2	1	158	1	0	0	0	0	0	0	0	1	9162	639	23	1		1	MAG	19	35786796	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	901937	35786796	23342187	296	7361										
ATP4A	495	broad.mit.edu	37	chr19	36046700	36046700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gcggtgatggggtggtcaccCgttaccatgatcacctgtag	14	10	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.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTGGTCACCCGTTACCATGA	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1882-1884)acG>acT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						155	145	148					19																	36046700		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046700C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1884G>T	19.37:g.36046700C>A			Somatic					p.T628T	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		13	1912	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		628					O00738	Silent	SNP	ENST00000262623.3	37	c.1884G>T	CCDS12467.1																																																																																				0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		6	206	6	206	---	---	---	---	A	36046700	C	A	36046700	2	1	158	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP4A	19	36046700	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	259904	36046700	23082283	297	7362										
ZNF568	374900	broad.mit.edu	37	chr19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	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_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Frame_Shift_Del_p.DL126fs	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)gacttafs		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		Somatic				ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	p.DL126fs	NM_001204837.1	NP_001191766.1	WXS	Illumina GAIIx	Phase_I	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	158	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	1393924	37440624	21688359	298	7363										
FAM98C	147965	broad.mit.edu	37	chr19	38895577	38895577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctcagagctccaagccaccCgcctcctgtgcctccgctct	8	20	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.chr19:38895577C>A	ENST00000252530.5	+	4	398	c.379C>A	c.(379-381)Cgc>Agc	p.R127S	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	127										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)			CCAAGCCACCCGCCTCCTGTG	0.572																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(379-381)Cgc>Agc		family with sequence similarity 98, member C							173	182	179					19																	38895577		2009	4177	6186	SO:0001583	missense	147965							g.chr19:38895577C>A		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.379C>A	19.37:g.38895577C>A	ENSP00000252530:p.Arg127Ser		Somatic				FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S|FAM98C_ENST00000588262.1_Intron	p.R127S	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	398	+	all_cancers(60;3.95e-06)		127					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.379C>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114628	0.56505	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.51817	0.69;0.69	4.54	4.54	0.55810	.	0.000000	0.48767	D	0.000164	T	0.69351	0.3101	M	0.83953	2.67	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74172	-0.3751	10	0.72032	D	0.01	-21.2674	12.7056	0.57060	0.0:1.0:0.0:0.0	.	127;127	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	S	127	ENSP00000252530:R127S;ENSP00000340348:R127S	ENSP00000252530:R127S	R	+	1	0	FAM98C	43587417	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	3.515000	0.53429	2.345000	0.79718	0.558000	0.71614	CGC		0.572	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		7	282	7	282	---	---	---	---	A	38895577	C	A	38895577	3	1	158	1	0	0	0	0	1	0	0	0	5658	652	23	1	393	1	FAM98C	19	38895577	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1454953	38895577	20233406	299	7364										
ACTN4	81	broad.mit.edu	37	chr19	39219698	39219698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaccatagcggccttgtgacCttccaagccttcatcgactt	7	14	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.chr19:39219698C>A	ENST00000252699.2	+	20	2557	c.2481C>A	c.(2479-2481)acC>acA	p.T827T	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Silent_p.T437T|ACTN4_ENST00000390009.3_Silent_p.T608T	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	827	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTGTGACCTTCCAAGCCT	0.597																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2479-2481)acC>acA		actinin, alpha 4							131	102	112					19																	39219698		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219698C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2481C>A	19.37:g.39219698C>A			Somatic				ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.T608T|ACTN4_ENST00000424234.2_Silent_p.T437T	p.T827T	NM_004924.4	NP_004915.2	WXS	Illumina GAIIx	Phase_I	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2557	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		827			EF-hand 2.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2481C>A	CCDS12518.1																																																																																				0.597	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			6	153	6	153	---	---	---	---	A	39219698	C	A	39219698	2	1	158	1	0	0	0	0	0	0	0	1	207	668	24	1		1	ACTN4	19	39219698	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	324121	39219698	19909285	300	7365										
SAMD4B	55095	broad.mit.edu	37	chr19	39870679	39870679	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gaagctcctccggacattccCgcgcaaagccgcactagaga	10	15	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.chr19:39870679C>A	ENST00000314471.6	+	12	2639	c.1604C>A	c.(1603-1605)cCg>cAg	p.P535Q	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGACATTCCCGCGCAAAGCC	0.577																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1603-1605)cCg>cAg		sterile alpha motif domain containing 4B							50	46	47					19																	39870679		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39870679C>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1604C>A	19.37:g.39870679C>A	ENSP00000317224:p.Pro535Gln		Somatic				SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	p.P535Q	NM_018028.2	NP_060498.2	WXS	Illumina GAIIx	Phase_I	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		12	2639	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		535					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1604C>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405558	0.83230	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.74	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.67397	2.05	0.49483	D	0.99979	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.77239	-0.2661	9	0.87932	D	0	.	11.0935	0.48130	0.0:0.9088:0.0:0.0912	.	535;535	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	Q	535	.	ENSP00000317224:P535Q	P	+	2	0	SAMD4B	44562519	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	5.567000	0.67378	1.349000	0.45751	0.460000	0.39030	CCG		0.577	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		4	41	4	41	---	---	---	---	A	39870679	C	A	39870679	3	1	158	1	0	0	0	0	1	0	0	0	13822	652	23	1	1634	1	SAMD4B	19	39870679	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	650981	39870679	19258304	301	7366										
SHKBP1	92799	broad.mit.edu	37	chr19	41096743	41096743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtctccccagcccctcacccCgcatctccctcaccaggtag	6	22	4	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.chr19:41096743C>A	ENST00000291842.5	+	17	1925	c.1876C>A	c.(1876-1878)Cgc>Agc	p.R626S	LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	626					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCTCACCCCGCATCTCCCT	0.647																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1876-1878)Cgc>Agc		SH3KBP1 binding protein 1							50	56	54					19																	41096743		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096743C>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1876C>A	19.37:g.41096743C>A	ENSP00000291842:p.Arg626Ser		Somatic				SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S	p.R626S	NM_138392.3	NP_612401.2	WXS	Illumina GAIIx	Phase_I	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1925	+			626					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1876C>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.254055	0.01457	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.41065	1.01	4.82	3.76	0.43208	.	2.292210	0.01648	N	0.024423	T	0.20820	0.0501	N	0.02011	-0.69	0.40801	D	0.983347	B;B;B;B;B	0.19200	0.0;0.002;0.034;0.001;0.02	B;B;B;B;B	0.17433	0.001;0.001;0.018;0.0;0.008	T	0.37865	-0.9687	10	0.02654	T	1	-18.5526	12.0572	0.53542	0.1801:0.8199:0.0:0.0	.	504;406;463;626;626	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	S	626;406	ENSP00000291842:R626S	ENSP00000291842:R626S	R	+	1	0	SHKBP1	45788583	0.857000	0.29778	0.090000	0.20809	0.004000	0.04260	2.910000	0.48766	1.108000	0.41662	0.561000	0.74099	CGC		0.647	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	71	4	71	---	---	---	---	A	41096743	C	A	41096743	3	1	158	1	0	0	0	0	1	0	0	0	14284	652	23	1	1942	1	SHKBP1	19	41096743	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1226064	41096743	18032240	302	7367										
CEACAM5	1048	broad.mit.edu	37	chr19	42222166	42222166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agtattcttggctgattgatGggaacatccagcaacacaca	9	9	1	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.chr19:42222166G>T	ENST00000221992.6	+	6	1471	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	453	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGATTGATGGGAACATCCA	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1357-1359)Ggg>Tgg		carcinoembryonic antigen-related cell adhesion molecule 5							137	110	119					19																	42222166		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42222166G>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1357G>T	19.37:g.42222166G>T	ENSP00000221992:p.Gly453Trp		Somatic				CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron	p.G453W	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1471	+			453			Ig-like 5.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1357G>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.44|12.44	1.939108|1.939108	0.34189|0.34189	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|D	0.79749|0.94457	-1.3;-1.3|-3.43	2.39|2.39	2.39|2.39	0.29439|0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	D|D	0.97923|0.97923	0.9317|0.9317	H|H	0.98965|0.98965	4.385|4.385	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91596|0.91596	0.5291|0.5291	9|6	0.87932|.	D|.	0|.	.|.	8.4077|8.4077	0.32625|0.32625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453|.	P06731|.	CEAM5_HUMAN|.	W|L	453;453;171|448	ENSP00000221992:G453W;ENSP00000385072:G453W|ENSP00000381600:W448L	ENSP00000221992:G453W|.	G|W	+|+	1|2	0|0	CEACAM5|CEACAM5	46914006|46914006	0.030000|0.030000	0.19436|0.19436	0.041000|0.041000	0.18516|0.18516	0.014000|0.014000	0.08584|0.08584	1.360000|1.360000	0.34125|0.34125	1.668000|1.668000	0.50843|0.50843	0.531000|0.531000	0.56144|0.56144	GGG|TGG		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	89	5	89	---	---	---	---	T	42222166	G	T	42222166	3	4	158	1	0	0	0	0	1	0	0	0	3195	1348	47	1	1379	1	CEACAM5	19	42222166	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1125423	42222166	16906817	303	7368										
CEACAM1	634	broad.mit.edu	37	chr19	43031277	43031277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtagaatcctgtgtcattctGggtgacgttctggatcagca	12	8	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.chr19:43031277G>T	ENST00000161559.6	-	2	474	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	114	Ig-like V-type.				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)	GTGTCATTCTGGGTGACGTTC	0.473																																						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.(340-342)Cag>Aag		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						363	317	332					19																	43031277		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031277G>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.340C>A	19.37:g.43031277G>T	ENSP00000161559:p.Gln114Lys		Somatic				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K	p.Q114K	NM_001712.4	NP_001703.2	WXS	Illumina GAIIx	Phase_I	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	474	-		Prostate(69;0.00682)	114			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.340C>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	g	2.005	-0.428536	0.04701	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	3.6	1.37	0.22104	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55386	0.1917	L	0.56340	1.77	0.19575	N	0.999965	B;B;B;B;B;B;B;B;B;B	0.26363	0.021;0.147;0.084;0.147;0.008;0.019;0.008;0.092;0.004;0.093	B;B;B;B;B;B;B;B;B;B	0.38056	0.008;0.172;0.077;0.172;0.048;0.029;0.013;0.172;0.048;0.264	T	0.48410	-0.9038	9	0.18276	T	0.48	.	4.3388	0.11099	0.1348:0.2375:0.6277:0.0	.	114;114;114;114;114;114;114;114;114;114	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	K	114;114;114;141;74;114;114;114;74;114;114;114	ENSP00000161559:Q114K;ENSP00000351165:Q114K;ENSP00000325946:Q114K;ENSP00000244291:Q114K;ENSP00000384709:Q114K;ENSP00000384083:Q114K;ENSP00000312184:Q74K	ENSP00000161559:Q114K	Q	-	1	0	CEACAM1	47723117	0.023000	0.18921	0.452000	0.26994	0.105000	0.19272	0.570000	0.23653	0.452000	0.26830	0.561000	0.74099	CAG		0.473	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		9	412	9	412	---	---	---	---	T	43031277	G	T	43031277	3	4	158	1	0	0	0	0	1	0	0	0	3187	1357	47	1	1369	1	CEACAM1	19	43031277	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	809111	43031277	16097706	304	7369										
PSG3	5671	broad.mit.edu	37	chr19	43243013	43243013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cattggaatatactgtttctCgtccactgtatgcaggccca	8	11	1	0	rs267605518		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.chr19:43243013C>A	ENST00000327495.5	-	2	477	c.293G>T	c.(292-294)cGa>cTa	p.R98L	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	98	Ig-like V-type.				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)				TACTGTTTCTCGTCCACTGTA	0.448																																						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.(292-294)cGa>cTa		pregnancy specific beta-1-glycoprotein 3							387	359	369					19																	43243013		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43243013C>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.293G>T	19.37:g.43243013C>A	ENSP00000332215:p.Arg98Leu		Somatic				PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	p.R98L	NM_021016.3	NP_066296.2	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			2	477	-		Prostate(69;0.00682)	98			Ig-like V-type.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.293G>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	12.94	2.088386	0.36855	.	.	ENSG00000221826	ENST00000327495	T	0.72505	-0.66	1.39	1.39	0.22231	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86969	0.6061	H	0.97983	4.12	0.09310	N	1	D;D	0.69078	0.997;0.997	P;D	0.65573	0.901;0.936	T	0.74225	-0.3734	9	0.87932	D	0	.	6.2321	0.20740	0.0:1.0:0.0:0.0	.	76;98	Q08266;Q16557	.;PSG3_HUMAN	L	98	ENSP00000332215:R98L	ENSP00000332215:R98L	R	-	2	0	PSG3	47934853	0.000000	0.05858	0.009000	0.14445	0.050000	0.14768	-0.448000	0.06820	1.078000	0.41014	0.393000	0.25936	CGA		0.448	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		8	567	8	567	---	---	---	---	A	43243013	C	A	43243013	3	1	158	1	0	0	0	0	1	0	0	0	12656	884	31	3	1013	3	PSG3	19	43243013	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	211736	43243013	15885970	305	7370										
PSG8	440533	broad.mit.edu	37	chr19	43268158	43268158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtaggatcctgcgtcttcctGggtgacattctggatcagca	12	10	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.chr19:43268158G>T	ENST00000306511.4	-	2	437	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	PSG8_ENST00000404209.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	114	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)				GCGTCTTCCTGGGTGACATTC	0.418																																						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.(340-342)Cag>Aag		pregnancy specific beta-1-glycoprotein 8							362	367	365					19																	43268158		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268158G>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.340C>A	19.37:g.43268158G>T	ENSP00000305005:p.Gln114Lys		Somatic				PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K	p.Q114K	NM_001130167.1	NP_001123639.1	WXS	Illumina GAIIx	Phase_I	Q9UQ74	PSG8_HUMAN			2	436	-		Prostate(69;0.00899)	114			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.340C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.760202	0.00657	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.64803	-0.12;-0.12;-0.12	1.35	-1.7	0.08159	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45155	0.1328	L	0.45285	1.41	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.18263	0.021;0.0;0.003;0.0;0.0	T	0.31586	-0.9938	9	0.12103	T	0.63	.	5.3211	0.15881	0.0:0.0:0.3809:0.6191	.	114;114;114;114;114	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	K	114	ENSP00000385869:Q114K;ENSP00000386090:Q114K;ENSP00000305005:Q114K	ENSP00000305005:Q114K	Q	-	1	0	PSG8	47959998	0.000000	0.05858	0.053000	0.19242	0.019000	0.09904	-0.229000	0.09098	-0.372000	0.07992	0.184000	0.17185	CAG		0.418	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			8	479	8	479	---	---	---	---	T	43268158	G	T	43268158	3	4	158	1	0	0	0	0	1	0	0	0	12661	1357	47	1	977	1	PSG8	19	43268158	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	25145	43268158	15860825	306	7371										
PSG5	5673	broad.mit.edu	37	chr19	43680257	43680257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aagacatccttattctccctGggttttgagttgttgatggt	10	7	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.chr19:43680257G>T	ENST00000366175.3	-	3	604	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Silent_p.P158P|PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	158	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATTCTCCCTGGGTTTTGAGT	0.493																																						ENST00000404580.1																			1	Substitution - coding silent(1)	p.P158P(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(472-474)ccC>ccA		pregnancy specific beta-1-glycoprotein 5							246	230	235					19																	43680257		2202	4296	6498	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43680257G>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.474C>A	19.37:g.43680257G>T			Somatic				PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000366175.3_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P	p.P158P			WXS	Illumina GAIIx	Phase_I	Q15238	PSG5_HUMAN			3	562	-		Prostate(69;0.00899)	158			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.474C>A	CCDS12617.1																																																																																				0.493	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		10	348	10	348	---	---	---	---	T	43680257	G	T	43680257	2	4	158	1	0	0	0	0	0	0	0	1	12658	1335	47	1		1	PSG5	19	43680257	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	412099	43680257	15448726	307	7372										
PPFIA3	8541	broad.mit.edu	37	chr19	49646129	49646129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtcaagagcggtgccatcatGgccaacctgtcagacacgga	12	12	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.chr19:49646129G>T	ENST00000334186.4	+	21	2962	c.2613G>T	c.(2611-2613)atG>atT	p.M871I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	871	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)		GTGCCATCATGGCCAACCTGT	0.642																																						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.(2611-2613)atG>atT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							114	96	102					19																	49646129		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49646129G>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.2613G>T	19.37:g.49646129G>T	ENSP00000335614:p.Met871Ile		Somatic				PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	p.M871I	NM_003660.2	NP_003651.1	WXS	Illumina GAIIx	Phase_I	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	2962	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	871			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2613G>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470069	0.84533	.	.	ENSG00000177380	ENST00000334186	T	0.15718	2.4	4.45	4.45	0.53987	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.206565	0.30528	N	0.009437	T	0.16385	0.0394	L	0.34521	1.04	0.80722	D	1	B;P	0.35011	0.323;0.48	B;B	0.35413	0.19;0.202	T	0.06862	-1.0803	10	0.87932	D	0	-9.8592	16.2668	0.82588	0.0:0.0:1.0:0.0	.	871;871	O75145-2;O75145	.;LIPA3_HUMAN	I	871	ENSP00000335614:M871I	ENSP00000335614:M871I	M	+	3	0	PPFIA3	54337941	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.800000	0.99124	2.198000	0.70561	0.449000	0.29647	ATG		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		5	96	5	96	---	---	---	---	T	49646129	G	T	49646129	3	4	158	1	0	0	0	0	1	0	0	0	12311	1348	47	1	2691	1	PPFIA3	19	49646129	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	5965872	49646129	9482854	308	7373										
KLK14	43847	broad.mit.edu	37	chr19	51585865	51585865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ttgaagtgctgtcagcaggaGgaacattttaggggctgagg	16	5	1	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.chr19:51585865G>T	ENST00000156499.2	-	3	273	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	KLK14_ENST00000391802.1_Missense_Mutation_p.L19I			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	19					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)		GTCAGCAGGAGGAACATTTTA	0.537																																					GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(55-57)Ctc>Atc		kallikrein-related peptidase 14							89	91	90					19																	51585865		1922	4130	6052	SO:0001583	missense	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.chr19:51585865G>T	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.55C>A	19.37:g.51585865G>T	ENSP00000156499:p.Leu19Ile		Somatic				KLK14_ENST00000156499.2_Missense_Mutation_p.L19I	p.L19I	NM_022046.4	NP_071329.2	WXS	Illumina GAIIx	Phase_I	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	3	273	-		all_neural(266;0.0199)	19					A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	c.55C>A	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050127	0.07407	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93488	-3.23;-3.23	4.88	0.0475	0.14280	.	.	.	.	.	T	0.79323	0.4426	N	0.08118	0	0.09310	N	0.999995	P	0.35077	0.483	B	0.21360	0.034	T	0.70278	-0.4916	9	0.28530	T	0.3	.	4.7763	0.13180	0.2012:0.3396:0.4592:0.0	.	19	Q9P0G3	KLK14_HUMAN	I	19	ENSP00000156499:L19I;ENSP00000375678:L19I	ENSP00000156499:L19I	L	-	1	0	KLK14	56277677	0.220000	0.23631	0.426000	0.26672	0.322000	0.28314	0.023000	0.13533	0.035000	0.15519	0.552000	0.68991	CTC		0.537	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		5	84	5	84	---	---	---	---	T	51585865	G	T	51585865	3	4	158	1	0	0	0	0	1	0	0	0	8402	1000	35	1	768	1	KLK14	19	51585865	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1939736	51585865	7543118	309	7374										
SIGLEC8	27181	broad.mit.edu	37	chr19	51960476	51960476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agacagtcatggtcaagttcCaaggagggtctgggacagaa	14	7	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.chr19:51960476C>A	ENST00000321424.3	-	3	809	c.743G>T	c.(742-744)tGg>tTg	p.W248L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	248	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)		GGTCAAGTTCCAAGGAGGGTC	0.562																																						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.(742-744)tGg>tTg		sialic acid binding Ig-like lectin 8							92	88	89					19																	51960476		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960476C>A	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.743G>T	19.37:g.51960476C>A	ENSP00000321077:p.Trp248Leu		Somatic				SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L	p.W248L	NM_014442.2	NP_055257.2	WXS	Illumina GAIIx	Phase_I	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	809	-		all_neural(266;0.0199)	248			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.743G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	5.396	0.258360	0.10239	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.60672	0.17;1.27	2.14	-0.202	0.13208	Immunoglobulin-like (1);	1.705140	0.04196	U	0.329160	T	0.38772	0.1053	N	0.12182	0.205	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.20577	0.03;0.0	T	0.30765	-0.9967	10	0.54805	T	0.06	.	4.5176	0.11943	0.0:0.3652:0.0:0.6348	.	155;248	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	L	248;155	ENSP00000321077:W248L;ENSP00000339448:W155L	ENSP00000321077:W248L	W	-	2	0	SIGLEC8	56652288	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.818000	0.04467	-0.112000	0.11979	-0.508000	0.04489	TGG		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		6	89	6	89	---	---	---	---	A	51960476	C	A	51960476	3	1	158	1	0	0	0	0	1	0	0	0	14314	595	21	1	776	1	SIGLEC8	19	51960476	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	374611	51960476	7168507	310	7375										
ZNF816A	125893	broad.mit.edu	37	chr19	53456131	53456131	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tccctgaaagtcaagcgtccCtaaaataaaaaacacgtttc	5	11	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.chr19:53456131C>A	ENST00000357666.4	-	4	364		c.e4-1		ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						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						TCAAGCGTCCCTAAAATAAAA	0.413																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.e4-1		zinc finger protein 816							77	85	82					19																	53456131		2203	4300	6503	SO:0001630	splice_region_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53456131C>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.64-1G>T	19.37:g.53456131C>A			Somatic				ZNF816_ENST00000535506.1_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site		NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	Q0VGE8	ZN816_HUMAN			4	364	-								A8K7H5|Q3KR39|Q659B3	Splice_Site	SNP	ENST00000357666.4	37		CCDS33096.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864926	0.32977	.	.	ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000434371;ENST00000357666;ENST00000444460;ENST00000457013;ENST00000332302;ENST00000391777	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6538	0.45663	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF321P;ZNF816	58147943	0.692000	0.27719	0.014000	0.15608	0.517000	0.34286	1.871000	0.39539	1.000000	0.39049	0.305000	0.20034	.		0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	Intron	6	139	6	139	---	---	---	---	A	53456131	C	A	53456131	5	1	158	1	0	0	0	0	0	0	1	0	18174	695	24	1	1900	1	ZNF816A	19	53456131	Splice_Site	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1495655	53456131	5672852	311	7376										
LILRA2	11027	broad.mit.edu	37	chr19	55086232	55086232	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccaccctctcagctctgccCagccctgtggtgaccttagg	9	18	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.chr19:55086232C>A	ENST00000251377.3	+	5	520	c.387C>A	c.(385-387)ccC>ccA	p.P129P	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	129	Ig-like C2-type 2.				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)		CAGCTCTGCCCAGCCCTGTGG	0.562																																						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.(385-387)ccC>ccA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							131	125	127					19																	55086232		2203	4300	6503	SO:0001819	synonymous_variant	11027							g.chr19:55086232C>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.387C>A	19.37:g.55086232C>A			Somatic				LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR	p.P129P			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0963)	5	520	+								O75020	Silent	SNP	ENST00000251377.3	37	c.387C>A	CCDS46179.1																																																																																				0.562	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			6	165	6	165	---	---	---	---	A	55086232	C	A	55086232	2	1	158	1	0	0	0	0	0	0	0	1	8785	581	21	1		1	LILRA2	19	55086232	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1630101	55086232	4042751	312	7377										
NLRP2	55655	broad.mit.edu	37	chr19	55481486	55481486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atctgatcacgaccttctccCtggcacacgagctccagaag	8	15	3	2	rs140778052	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.chr19:55481486C>A	ENST00000543010.1	+	2	246	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	35	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.			L -> P (in Ref. 1; AAG15253). {ECO:0000305}.	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)		GACCTTCTCCCTGGCACACGA	0.552																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(103-105)Ctg>Atg		NLR family, pyrin domain containing 2							107	93	98					19																	55481486		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.chr19:55481486C>A	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.103C>A	19.37:g.55481486C>A	ENSP00000445135:p.Leu35Met		Somatic				NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	p.L35M	NM_001174081.1	NP_001167552.1	WXS	Illumina GAIIx	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	2	246	+			35	L -> P (in Ref. 1; AAG15253).		DAPIN.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.103C>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326399	0.24080	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	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	1.88	1.88	0.25563	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.67202	0.2868	L	0.58669	1.825	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	0.85130	0.979;0.989;0.997;0.989;0.995	T	0.51841	-0.8654	9	0.36615	T	0.2	.	7.3439	0.26652	0.0:1.0:0.0:0.0	.	35;35;35;35;35	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	35	ENSP00000443519:L35M;ENSP00000445135:L35M;ENSP00000375601:L35M;ENSP00000344074:L35M;ENSP00000409370:L35M;ENSP00000440601:L35M;ENSP00000402474:L35M;ENSP00000441133:L35M;ENSP00000263437:L35M	ENSP00000263437:L35M	L	+	1	2	NLRP2	60173298	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.548000	0.23314	1.396000	0.46663	0.485000	0.47835	CTG		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		6	100	6	100	---	---	---	---	A	55481486	C	A	55481486	3	1	158	1	0	0	0	0	1	0	0	0	10477	680	24	1	105	1	NLRP2	19	55481486	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	395254	55481486	3647497	313	7378										
NLRP4	147945	broad.mit.edu	37	chr19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gatggatagaaaggatctctGcatgaaggtcatgagggaga	15	4	2	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.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		Somatic				NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	p.C85F	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	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	27	60	---	---	---	---	T	56363700	G	T	56363700	3	4	158	1	0	0	0	0	1	0	0	0	10479	1319	46	3	256	3	NLRP4	19	56363700	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	882214	56363700	2765283	314	7379										
ZNF274	10782	broad.mit.edu	37	chr19	58723010	58723010	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgacacagaggaccgagtacCgcgatgtgatgctggagacc	14	11	0	3	rs374045776		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.chr19:58723010C>A	ENST00000326804.4	+	8	1393	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	313	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	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)	p.R280S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCGAGTACCGCGATGTGAT	0.617																																						ENST00000326804.4																			1	Substitution - Missense(1)	p.R280S(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(934-936)Cgc>Agc		zinc finger protein 274							104	120	115					19																	58723010		2197	4300	6497	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723010C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.934C>A	19.37:g.58723010C>A	ENSP00000321209:p.Arg312Ser		Somatic				ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	p.R312S	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	WXS	Illumina GAIIx	Phase_I	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	8	1393	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	313			KRAB 2.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.934C>A		.	.	.	.	.	.	.	.	.	.	C	13.73	2.323915	0.41096	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.02656	4.21;4.21;4.21	5.17	5.17	0.71159	Krueppel-associated box (4);	0.251340	0.21337	N	0.076187	T	0.05823	0.0152	.	.	.	0.27351	N	0.956258	P;P;P	0.38597	0.586;0.586;0.639	B;B;P	0.45071	0.338;0.338;0.468	T	0.12682	-1.0538	9	0.52906	T	0.07	-4.2241	14.0107	0.64495	0.0:1.0:0.0:0.0	.	208;281;313	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	S	312;280;207	ENSP00000321209:R312S;ENSP00000321187:R280S;ENSP00000409872:R207S	ENSP00000321209:R312S	R	+	1	0	ZNF274	63414822	0.023000	0.18921	0.971000	0.41717	0.689000	0.40095	0.054000	0.14205	2.688000	0.91661	0.563000	0.77884	CGC		0.617	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		5	135	5	135	---	---	---	---	A	58723010	C	A	58723010	3	1	158	1	0	0	0	0	1	0	0	0	17806	652	23	1	958	1	ZNF274	19	58723010	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2359310	58723010	405973	315	7380										
NSFL1C	55968	broad.mit.edu	37	chr20	1435726	1435726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcgttgggacttttcttcctGggagggccaacaatctgctg	12	10	2	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.chr20:1435726G>T	ENST00000216879.4	-	4	1197	c.330C>A	c.(328-330)ccC>ccA	p.P110P	NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	110						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						TTTTCTTCCTGGGAGGGCCAA	0.488																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(328-330)ccC>ccA		NSFL1 (p97) cofactor (p47)							218	228	224					20																	1435726		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1435726G>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.330C>A	20.37:g.1435726G>T			Somatic				NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	p.P110P	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			4	1197	-			110					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.330C>A	CCDS13015.1																																																																																				0.488	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		8	343	8	343	---	---	---	---	T	1435726	G	T	1435726	2	4	158	1	0	0	0	0	0	0	0	1	10672	1335	47	1		1	NSFL1C	20	1435726	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08		1435726	61589794	316	7381										
KIF16B	55614	broad.mit.edu	37	chr20	16410600	16410600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atccaaaacaactccaatccCttctttcctgagggctagag	6	13	1	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.chr20:16410600C>A	ENST00000354981.2	-	13	1487	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W	KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	444					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						ACTCCAATCCCTTCTTTCCTG	0.363																																						ENST00000378003.2																			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								kinesin family member 16B							91	84	86					20																	16410600		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.chr20:16410600C>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.1330G>T	20.37:g.16410600C>A	ENSP00000347076:p.Gly444Trp		Somatic				KIF16B_ENST00000354981.2_Missense_Mutation_p.G444W|KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W				WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			0	1487	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Translation_Start_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471896	0.84533	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76448	-1.02;-0.99;-0.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	M	0.93550	3.43	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	0.92648	0.6130	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	444;444;444;444	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	W	444	ENSP00000347076:G444W;ENSP00000347995:G444W;ENSP00000384164:G444W	ENSP00000347076:G444W	G	-	1	0	KIF16B	16358600	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.040000	0.70980	2.941000	0.99782	0.655000	0.94253	GGG		0.363	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	79	6	79	---	---	---	---	A	16410600	C	A	16410600	3	1	158	1	0	0	0	0	1	0	0	0	8278	681	24	1	2679	1	KIF16B	20	16410600	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	14974874	16410600	46614920	317	7382										
NAA20	51126	broad.mit.edu	37	chr20	20006388	20006388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tttcattgttgcagaggcacCtggtggagaattaatgggtt	13	5	1	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.chr20:20006388C>A	ENST00000334982.4	+	3	427	c.146C>A	c.(145-147)cCt>cAt	p.P49H	NAA20_ENST00000398602.2_Missense_Mutation_p.P37H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.P49H	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	49	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GCAGAGGCACCTGGTGGAGAA	0.383																																						ENST00000398602.2																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(109-111)cCt>cAt		N(alpha)-acetyltransferase 20, NatB catalytic subunit							127	127	127					20																	20006388		2203	4300	6503	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20006388C>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.146C>A	20.37:g.20006388C>A	ENSP00000335636:p.Pro49His		Somatic				NAA20_ENST00000310450.4_Missense_Mutation_p.P49H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.P49H	p.P37H	NM_181527.3	NP_852668.1	WXS	Illumina GAIIx	Phase_I	P61599	NAA20_HUMAN			3	745	+			49			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.110C>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255095	0.59321	.	.	ENSG00000173418	ENST00000334982;ENST00000310450;ENST00000398602	T;T;T	0.65364	0.45;0.43;-0.15	4.62	4.62	0.57501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.64567	1.98	0.80722	D	1	P;P;B	0.41710	0.76;0.736;0.331	P;B;B	0.45071	0.468;0.445;0.248	T	0.66532	-0.5900	9	.	.	.	-28.2686	16.3756	0.83387	0.0:1.0:0.0:0.0	.	37;49;49	A8MZB2;A6NHA3;P61599	.;.;NAA20_HUMAN	H	49;49;37	ENSP00000335636:P49H;ENSP00000311027:P49H;ENSP00000381603:P37H	.	P	+	2	0	NAA20	19954388	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.554000	0.82212	2.393000	0.81446	0.655000	0.94253	CCT		0.383	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		6	194	6	194	---	---	---	---	A	20006388	C	A	20006388	3	1	158	1	0	0	0	0	1	0	0	0	10120	681	24	1	177	1	NAA20	20	20006388	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3595788	20006388	43019132	318	7383										
TGIF2	60436	broad.mit.edu	37	chr20	35219499	35219499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cccccaccaatgtgctctccCtgtctgtgtgctccatgccg	8	18	2	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.chr20:35219499C>A	ENST00000373874.2	+	3	578	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	127	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGTGCTCTCCCTGTCTGTGTG	0.672																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(379-381)Ctg>Atg		TGFB-induced factor homeobox 2							60	67	64					20																	35219499		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35219499C>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"Homeoboxes / TALE class"	15764	protein-coding gene	gene with protein product		607294	"TGFB-induced factor 2 (TALE family homeobox)"			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.379C>A	20.37:g.35219499C>A	ENSP00000362981:p.Leu127Met		Somatic				RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	p.L127M	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	WXS	Illumina GAIIx	Phase_I	Q9GZN2	TGIF2_HUMAN			3	578	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	127			Repressive function.		B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.379C>A	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695241	0.30052	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.66099	-0.19;-0.19	5.71	-5.29	0.02747	.	0.804891	0.10750	N	0.638456	T	0.43010	0.1228	L	0.52011	1.625	0.19575	N	0.999963	P	0.35745	0.518	B	0.26614	0.071	T	0.30707	-0.9969	10	0.37606	T	0.19	-11.2125	6.1084	0.20087	0.1096:0.5294:0.1547:0.2063	.	127	Q9GZN2	TGIF2_HUMAN	M	127	ENSP00000362981:L127M;ENSP00000362979:L127M	ENSP00000362979:L127M	L	+	1	2	TGIF2	34652913	0.001000	0.12720	0.881000	0.34555	0.793000	0.44817	-0.339000	0.07832	-0.355000	0.08199	-0.291000	0.09656	CTG		0.672	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		6	120	6	120	---	---	---	---	A	35219499	C	A	35219499	3	1	158	1	0	0	0	0	1	0	0	0	15823	680	24	1	385	1	TGIF2	20	35219499	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	15213111	35219499	27806021	319	7384										
DHX35	60625	broad.mit.edu	37	chr20	37634887	37634887	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaactccgagcctacaatccCaggacagctattgaatgctt	7	12	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.chr20:37634887C>A	ENST00000252011.3	+	12	1143	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	370	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1108-1110)ccC>ccA		DEAH (Asp-Glu-Ala-His) box polypeptide 35							263	252	255					20																	37634887		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634887C>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1110C>A	20.37:g.37634887C>A			Somatic				DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	p.P370P	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			12	1143	+		Myeloproliferative disorder(115;0.00878)	370			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1110C>A	CCDS13310.1																																																																																				0.517	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		7	329	7	329	---	---	---	---	A	37634887	C	A	37634887	2	1	158	1	0	0	0	0	0	0	0	1	4508	581	21	1		1	DHX35	20	37634887	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2415388	37634887	25390633	320	7385										
CHD6	84181	broad.mit.edu	37	chr20	40161771	40161771	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttggtgcccgaggcctcccGgggcttccgtgccttctttg	13	15	1	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.chr20:40161771G>T	ENST00000373233.3	-	3	649	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	CHD6_ENST00000373222.3_Silent_p.R193R|CHD6_ENST00000309279.7_Silent_p.R158R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	158	Lys-rich.|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)				GAGGCCTCCCGGGGCTTCCGT	0.587																																						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.(472-474)Cgg>Agg		chromodomain helicase DNA binding protein 6							184	172	176					20																	40161771		2203	4300	6503	SO:0001819	synonymous_variant	84181				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.chr20:40161771G>T	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.472C>A	20.37:g.40161771G>T			Somatic				CHD6_ENST00000309279.7_Silent_p.R158R|CHD6_ENST00000373222.3_Silent_p.R193R	p.R158R	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			3	649	-		Myeloproliferative disorder(115;0.00425)	158			Lys-rich.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.472C>A	CCDS13317.1																																																																																				0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			7	260	7	260	---	---	---	---	T	40161771	G	T	40161771	2	4	158	1	0	0	0	0	0	0	0	1	3329	1115	39	1		1	CHD6	20	40161771	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2526884	40161771	22863749	321	7386										
HNF4A	3172	broad.mit.edu	37	chr20	43034706	43034706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcctggcgcagacacgtccCcatcagaaggcaccaacctc	8	18	1	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.chr20:43034706C>A	ENST00000316099.4	+	2	213	c.124C>A	c.(124-126)Cca>Aca	p.P42T	HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T|HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T	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	42					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)			AGACACGTCCCCATCAGAAGG	0.632																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.4																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(124-126)Cca>Aca		hepatocyte nuclear factor 4, alpha							152	152	152					20																	43034706		2203	4300	6503	SO:0001583	missense	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.chr20:43034706C>A	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.124C>A	20.37:g.43034706C>A	ENSP00000312987:p.Pro42Thr		Somatic				HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T|HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T	p.P42T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	213	+		Myeloproliferative disorder(115;0.0122)						A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.124C>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	c	16.36	3.100978	0.56183	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.92858	-3.05;-3.05;-3.08;-3.12;-3.07	5.17	5.17	0.71159	.	0.189462	0.47455	D	0.000229	D	0.87884	0.6290	L	0.28192	0.835	0.80722	D	1	B;B;B;B;B;B;B	0.11235	0.004;0.001;0.0;0.002;0.001;0.001;0.004	B;B;B;B;B;B;B	0.15484	0.009;0.003;0.003;0.004;0.006;0.013;0.006	T	0.83129	-0.0114	10	0.44086	T	0.13	.	18.7348	0.91750	0.0:1.0:0.0:0.0	.	35;42;42;42;20;20;20	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	T	20;20;42;42;72;42	ENSP00000315180:P20T;ENSP00000396216:P20T;ENSP00000312987:P42T;ENSP00000410911:P42T;ENSP00000412111:P42T	ENSP00000312987:P42T	P	+	1	0	HNF4A	42468120	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	5.881000	0.69706	2.414000	0.81942	0.645000	0.84053	CCA		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	251	10	251	---	---	---	---	A	43034706	C	A	43034706	3	1	158	1	0	0	0	0	1	0	0	0	7253	623	22	1	183	1	HNF4A	20	43034706	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2872935	43034706	19990814	322	7387										
ELMO2	63916	broad.mit.edu	37	chr20	45012124	45012124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	atggcgtaggtctgaatctcCtggttggagctgtgtcaatg	14	7	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.chr20:45012124C>A	ENST00000290246.6	-	10	881	c.687G>T	c.(685-687)caG>caT	p.Q229H	ELMO2_ENST00000372176.1_Missense_Mutation_p.Q141H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	229					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGAATCTCCTGGTTGGAGC	0.428																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(421-423)caG>caT		engulfment and cell motility 2							112	115	114					20																	45012124		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45012124C>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.687G>T	20.37:g.45012124C>A	ENSP00000290246:p.Gln229His		Somatic				ELMO2_ENST00000290246.6_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H	p.Q141H			WXS	Illumina GAIIx	Phase_I	Q96JJ3	ELMO2_HUMAN			10	891	-		Myeloproliferative disorder(115;0.0122)	229					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.423G>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439794	0.63067	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;1.56;0.71;1.45;0.71	4.61	2.68	0.31781	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.70275	2.135	0.80722	D	1	P;B;B	0.52170	0.951;0.169;0.169	P;B;B	0.59115	0.852;0.125;0.081	T	0.56601	-0.7952	10	0.39692	T	0.17	-25.9595	9.5777	0.39468	0.0:0.7613:0.0:0.2387	.	229;229;229	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	H	229;141;229;229;46;227;17;229	ENSP00000290246:Q229H;ENSP00000361249:Q141H;ENSP00000379673:Q229H;ENSP00000396519:Q229H;ENSP00000409920:Q46H;ENSP00000326172:Q227H;ENSP00000388962:Q17H;ENSP00000416181:Q229H	ENSP00000290246:Q229H	Q	-	3	2	ELMO2	44445531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.057000	0.41365	0.690000	0.31570	-0.196000	0.12772	CAG		0.428	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		8	174	8	174	---	---	---	---	A	45012124	C	A	45012124	3	1	158	1	0	0	0	0	1	0	0	0	5066	680	24	1	1527	1	ELMO2	20	45012124	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	1977418	45012124	18013396	323	7388										
DIDO1	11083	broad.mit.edu	37	chr20	61511007	61511007	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gccctgggcgtcgggctcctCcagcggcttctctttgggcc	14	16	1	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.chr20:61511007C>A	ENST00000266070.4	-	16	6626	c.6301G>T	c.(6301-6303)Gag>Tag	p.E2101*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2101					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)					TCGGGCTCCTCCAGCGGCTTC	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.(6301-6303)Gag>Tag		death inducer-obliterator 1							78	94	89					20																	61511007		2191	4263	6454	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511007C>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.6301G>T	20.37:g.61511007C>A	ENSP00000266070:p.Glu2101*		Somatic				DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	p.E2101*	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			16	6626	-	Breast(26;5.68e-08)		2101					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.6301G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	46	12.479950	0.99671	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.32	5.32	0.75619	.	0.353024	0.20089	N	0.099483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.2378	17.9713	0.89113	0.0:1.0:0.0:0.0	.	.	.	.	X	2101	.	ENSP00000266070:E2101X	E	-	1	0	DIDO1	60981452	0.988000	0.35896	0.046000	0.18839	0.013000	0.08279	3.963000	0.56773	2.482000	0.83794	0.655000	0.94253	GAG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	258	8	258	---	---	---	---	A	61511007	C	A	61511007	4	1	158	1	0	0	0	0	0	1	0	0	4522	864	30	3	425	3	DIDO1	20	61511007	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	16498883	61511007	1514513	324	7389										
DIDO1	11083	broad.mit.edu	37	chr20	61513279	61513279	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gctgtggttttgggctcctgGgggagacctgcggtggaccc	18	10	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.chr20:61513279G>T	ENST00000266070.4	-	16	4354	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	DIDO1_ENST00000395343.1_Silent_p.P1343P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1343					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)					TGGGCTCCTGGGGGAGACCTG	0.582																																					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.(4027-4029)ccC>ccA		death inducer-obliterator 1							80	94	89					20																	61513279		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513279G>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.4029C>A	20.37:g.61513279G>T			Somatic				DIDO1_ENST00000395343.1_Silent_p.P1343P	p.P1343P	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			16	4354	-	Breast(26;5.68e-08)		1343					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4029C>A	CCDS33506.1																																																																																				0.582	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	168	7	168	---	---	---	---	T	61513279	G	T	61513279	2	4	158	1	0	0	0	0	0	0	0	1	4522	1219	43	1		1	DIDO1	20	61513279	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2272	61513279	1512241	325	7390										
BRWD1	54014	broad.mit.edu	37	chr21	40568278	40568278	+	Intron	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	gtccttctaccctgatttctCgtttttatttttgaacgtcg	6	10	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.chr21:40568278C>A	ENST00000333229.2	-	41	6899				BRWD1_ENST00000342449.3_Silent_p.T2239T|BRWD1_ENST00000380800.3_Intron	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						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)		p.T2239T(1)		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)				CCTGATTTCTCGTTTTTATTT	0.393																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			1	Substitution - coding silent(1)	p.T2239T(1)	urinary_tract(1)	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.(6715-6717)acG>acT		bromodomain and WD repeat domain containing 1							217	213	215					21																	40568278		2203	4299	6502	SO:0001627	intron_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568278C>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.6571+145G>T	21.37:g.40568278C>A			Somatic				BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	p.T2239T	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			41	6795	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	0					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.6717G>T	CCDS13662.1																																																																																				0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	260	5	260	---	---	---	---	A	40568278	C	A	40568278	1	1	158	0	1	0	0	0	0	0	0	0	1525	871	31	3		3	BRWD1	21	40568278	Intron	SNP	C	TCGA-HC-7081-01A-11D-1961-08		40568278	7561617	326	7391										
BRWD1	54014	broad.mit.edu	37	chr21	40630419	40630419	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	tcactatttattacctctccGgggtgtttcttcaccatttg	6	11	4	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.chr21:40630419G>T	ENST00000333229.2	-	18	2392	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	BRWD1_ENST00000342449.3_Silent_p.R689R|BRWD1_ENST00000380800.3_Silent_p.R689R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	689					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)				TTACCTCTCCGGGGTGTTTCT	0.388																																					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.(2065-2067)Cgg>Agg		bromodomain and WD repeat domain containing 1							177	175	176					21																	40630419		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630419G>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.2065C>A	21.37:g.40630419G>T			Somatic				BRWD1_ENST00000380800.3_Silent_p.R689R|BRWD1_ENST00000333229.2_Silent_p.R689R	p.R689R	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			18	2143	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	689					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.2065C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	5.112	0.206221	0.09704	.	.	ENSG00000185658	ENST00000455867	T	0.52526	0.66	5.46	3.45	0.39498	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41233	-0.9520	6	0.30078	T	0.28	-4.608	11.0573	0.47927	0.0:0.0:0.4789:0.5211	.	.	.	.	Q	400	ENSP00000389882:P400Q	ENSP00000398900:P400Q	P	-	2	0	BRWD1	39552289	0.922000	0.31269	0.428000	0.26697	0.748000	0.42578	1.327000	0.33746	1.297000	0.44761	0.655000	0.94253	CCG		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	181	5	181	---	---	---	---	T	40630419	G	T	40630419	2	4	158	1	0	0	0	0	0	0	0	1	1525	1115	39	1		1	BRWD1	21	40630419	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	62141	40630419	7499476	327	7392										
PRDM15	63977	broad.mit.edu	37	chr21	43281789	43281789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccctccaccccgctcatcccCagcagcttgaagggtgaaaa	8	17	1	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.chr21:43281789C>A	ENST00000269844.3	-	7	884	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	258					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(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTCATCCCCAGCAGCTTGA	0.512																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(772-774)ctG>ctT		PR domain containing 15							92	77	82					21																	43281789		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43281789C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.774G>T	21.37:g.43281789C>A			Somatic				PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	p.L258L	NM_022115.3	NP_071398.3	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			7	884	-			258					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.774G>T	CCDS13676.1																																																																																				0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		5	74	5	74	---	---	---	---	A	43281789	C	A	43281789	2	1	158	1	0	0	0	0	0	0	0	1	12456	581	21	1		1	PRDM15	21	43281789	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2651370	43281789	4848106	328	7393										
MYO18B	84700	broad.mit.edu	37	chr22	26422472	26422472	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cattggcactgagcagagccCggtccaccaatgtccacagc	10	15	0	2	rs371274815		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.chr22:26422472C>A	ENST00000407587.2	+	43	6704	c.6535C>A	c.(6535-6537)Cgg>Agg	p.R2179R	MYO18B_ENST00000335473.7_Silent_p.R2178R|MYO18B_ENST00000536101.1_Silent_p.R2178R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						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						GAGCAGAGCCCGGTCCACCAA	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.(6532-6534)Cgg>Agg		myosin XVIIIB							94	103	100					22																	26422472		1962	4149	6111	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422472C>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.6535C>A	22.37:g.26422472C>A			Somatic				MYO18B_ENST00000407587.2_Silent_p.R2179R|MYO18B_ENST00000536101.1_Silent_p.R2178R	p.R2178R	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			43	6782	+			2178					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6532C>A																																																																																					0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	183	5	183	---	---	---	---	A	26422472	C	A	26422472	2	1	158	1	0	0	0	0	0	0	0	1	10066	643	23	1		1	MYO18B	22	26422472	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		26422472	24882094	329	7394										
MYH9	4627	broad.mit.edu	37	chr22	36718479	36718479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cgccgcgctactcacgaagcGggaggagttgtcattcttca	12	12	4	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.chr22:36718479G>T	ENST00000216181.5	-	6	930	c.700C>A	c.(700-702)Cgc>Agc	p.R234S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	234	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						CTCACGAAGCGGGAGGAGTTG	0.657			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.(700-702)Cgc>Agc		myosin, heavy chain 9, non-muscle							74	63	67					22																	36718479		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.chr22:36718479G>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.700C>A	22.37:g.36718479G>T	ENSP00000216181:p.Arg234Ser		Somatic					p.R234S	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			6	930	-			234			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.700C>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397137	0.62177	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.84589	-1.87	5.23	4.18	0.49190	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96156	0.8747	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97044	0.9759	10	0.87932	D	0	.	13.0767	0.59091	0.0:0.0:0.6521:0.3479	.	234	P35579	MYH9_HUMAN	S	98;234	ENSP00000216181:R234S	ENSP00000216181:R234S	R	-	1	0	MYH9	35048425	1.000000	0.71417	0.779000	0.31741	0.482000	0.33219	3.429000	0.52800	1.269000	0.44280	0.561000	0.74099	CGC		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		5	86	5	86	---	---	---	---	T	36718479	G	T	36718479	3	4	158	1	0	0	0	0	1	0	0	0	10042	1116	39	1	5326	1	MYH9	22	36718479	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	10296007	36718479	14586087	330	7395										
PKDREJ	10343	broad.mit.edu	37	chr22	46658320	46658320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	aaattaaacacatacactccCcactgtaacgaattattggg	5	10	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.chr22:46658320C>A	ENST00000253255.5	-	1	899	c.900G>T	c.(898-900)tgG>tgT	p.W300C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	300	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)			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)		CATACACTCCCCACTGTAACG	0.552																																						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.(898-900)tgG>tgT		polycystin (PKD) family receptor for egg jelly							155	167	163					22																	46658320		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658320C>A	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.900G>T	22.37:g.46658320C>A	ENSP00000253255:p.Trp300Cys		Somatic					p.W300C	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	899	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	300			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.900G>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000909	0.35320	.	.	ENSG00000130943	ENST00000253255	T	0.69306	-0.39	4.28	3.22	0.36961	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.754990	0.02843	N	0.128136	T	0.75421	0.3847	L	0.61218	1.895	0.46028	D	0.998825	D	0.64830	0.994	P	0.55508	0.777	T	0.61797	-0.6989	10	0.40728	T	0.16	0.0116	7.271	0.26256	0.1859:0.6183:0.1958:0.0	.	300	Q9NTG1	PKDRE_HUMAN	C	300	ENSP00000253255:W300C	ENSP00000253255:W300C	W	-	3	0	PKDREJ	45036984	0.002000	0.14202	0.186000	0.23195	0.011000	0.07611	0.011000	0.13264	0.883000	0.36040	0.603000	0.83216	TGG		0.552	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	245	7	245	---	---	---	---	A	46658320	C	A	46658320	3	1	158	1	0	0	0	0	1	0	0	0	11970	624	22	1	5865	1	PKDREJ	22	46658320	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	9939841	46658320	4646246	331	7396										
TTLL8	164714	broad.mit.edu	37	chr22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	caggtcctcccactcggcctCagtgaggtcctccacggcat	10	17	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.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		Somatic				TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K	p.E262K			WXS	Illumina GAIIx	Phase_I				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	5	27	---	---	---	---	T	50480096	C	T	50480096	3	4	158	1	0	0	0	0	1	0	0	0	16730	835	29	2	1751	2	TTLL8	22	50480096	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	3821776	50480096	824470	332	7397										
STS	412	broad.mit.edu	37	chrX	7171276	7171276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ctcctactgttctttctgtgGgaagccgagagccacgcagc	11	13	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.chrX:7171276G>T	ENST00000217961.4	+	2	271	c.51G>T	c.(49-51)tgG>tgT	p.W17C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	17					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)			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)	TCTTTCTGTGGGAAGCCGAGA	0.493									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(49-51)tgG>tgT		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						114	84	94					X																	7171276		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:7171276G>T	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.51G>T	X.37:g.7171276G>T	ENSP00000217961:p.Trp17Cys		Somatic					p.W17C	NM_000351.4	NP_000342.2	WXS	Illumina GAIIx	Phase_I	P08842	STS_HUMAN			2	271	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	17					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.51G>T	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	1.014	-0.686834	0.03328	.	.	ENSG00000101846	ENST00000217961	D	0.95724	-3.79	3.68	-7.36	0.01417	.	3.316610	0.00628	N	0.000461	D	0.86012	0.5831	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79799	-0.1651	10	0.36615	T	0.2	.	7.906	0.29763	0.0:0.399:0.2669:0.334	.	17	P08842	STS_HUMAN	C	17	ENSP00000217961:W17C	ENSP00000217961:W17C	W	+	3	0	STS	7181276	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.759000	0.00787	-4.216000	0.00064	-1.117000	0.02048	TGG		0.493	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		4	29	4	29	---	---	---	---	T	7171276	G	T	7171276	3	4	158	1	0	0	0	0	1	0	0	0	15331	1241	43	1	57	1	STS	23	7171276	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		7171276	148099284	333	7398										
PPEF1	5475	broad.mit.edu	37	chrX	18775837	18775837	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actcacatacaaacttctccCtccaaagaggtaacaatctg	4	13	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.chrX:18775837C>A	ENST00000361511.4	+	8	983	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PPEF1_ENST00000543630.1_Silent_p.P163P|PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000359763.6_Silent_p.P110P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	163	Catalytic.				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)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTTCTCCCTCCAAAGAGG	0.408																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(487-489)ccC>ccA		protein phosphatase, EF-hand calcium binding domain 1							163	152	156					X																	18775837		2203	4300	6503	SO:0001819	synonymous_variant	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:18775837C>A	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.489C>A	X.37:g.18775837C>A			Somatic				PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000359763.6_Silent_p.P110P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000543630.1_Silent_p.P163P	p.P163P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	WXS	Illumina GAIIx	Phase_I	O14829	PPE1_HUMAN			8	983	+	Hepatocellular(33;0.183)		163			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.489C>A	CCDS14188.1																																																																																				0.408	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		6	108	6	108	---	---	---	---	A	18775837	C	A	18775837	2	1	158	1	0	0	0	0	0	0	0	1	12307	668	24	1		1	PPEF1	23	18775837	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11604561	18775837	136494723	334	7399										
ZFX	7543	broad.mit.edu	37	chrX	24229057	24229057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agttcacacgaaagactaccCccataagtgtgacatgtgtg	9	10	1	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:24229057C>A	ENST00000379177.1	+	11	2409	c.1982C>A	c.(1981-1983)cCc>cAc	p.P661H	ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	661					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|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)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGACTACCCCCATAAGTGT	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1981-1983)cCc>cAc		zinc finger protein, X-linked							113	101	105					X																	24229057		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229057C>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1982C>A	X.37:g.24229057C>A	ENSP00000368475:p.Pro661His		Somatic				ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H|ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H	p.P661H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			11	2409	+			661					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.1982C>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401939	0.62288	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.11	5.11	0.69529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63733	0.2536	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	T	0.72520	-0.4268	10	0.87932	D	0	-6.002	17.8664	0.88796	0.0:1.0:0.0:0.0	.	700;383;661	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	H	432;661;383;661;661;700;611	ENSP00000438233:P432H;ENSP00000368486:P661H;ENSP00000368475:P661H;ENSP00000304985:P661H;ENSP00000441382:P700H;ENSP00000343384:P611H	ENSP00000304985:P661H	P	+	2	0	ZFX	24138978	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.776000	0.85560	2.238000	0.73509	0.594000	0.82650	CCC		0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		5	64	5	64	---	---	---	---	A	24229057	C	A	24229057	3	1	158	1	0	0	0	0	1	0	0	0	17658	623	22	1	2067	1	ZFX	23	24229057	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	5453220	24229057	131041503	335	7400										
SSX5	6758	broad.mit.edu	37	chrX	48049696	48049696	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	ccttcctctgctggcttctcGggcgtgatctttataatgtg	10	11	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.chrX:48049696G>T	ENST00000376923.1	-	5	338	c.339C>A	c.(337-339)ccC>ccA	p.P113P	SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000311798.1_Silent_p.P154P			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					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						CTGGCTTCTCGGGCGTGATCT	0.433																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(460-462)ccC>ccA		synovial sarcoma, X breakpoint 5							151	147	148					X																	48049696		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48049696G>T	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.339C>A	X.37:g.48049696G>T			Somatic				SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000376923.1_Silent_p.P113P	p.P154P	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			7	514	-			113					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.462C>A	CCDS14289.1																																																																																				0.433	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		5	168	5	168	---	---	---	---	T	48049696	G	T	48049696	2	4	158	1	0	0	0	0	0	0	0	1	15207	1103	39	1		1	SSX5	23	48049696	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	23820639	48049696	107220864	336	7401										
FOXR2	139628	broad.mit.edu	37	chrX	55651014	55651014	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actcgtgtcttagcctttgcTcaaagggagagaatccaaga	10	9	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.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			Somatic					p.A290A	NM_198451.3	NP_940853.1	WXS	Illumina GAIIx	Phase_I	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	17	15	---	---	---	---	G	55651014	T	G	55651014	2	3	158	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	7601318	55651014	99619546	337	7402										
ZDHHC15	158866	broad.mit.edu	37	chrX	74637002	74637002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actcattcatagacctcataGggaaggagtgtccatcacca	8	11	4	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.chrX:74637002G>T	ENST00000373367.3	-	10	1117	c.887C>A	c.(886-888)cCt>cAt	p.P296H	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P287H|ZDHHC15_ENST00000373361.3_3'UTR	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	296					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|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(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGACCTCATAGGGAAGGAGTG	0.443																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(859-861)cCt>cAt		zinc finger, DHHC-type containing 15							195	161	173					X																	74637002		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74637002G>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.887C>A	X.37:g.74637002G>T	ENSP00000362465:p.Pro296His		Somatic				ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.P296H	p.P287H	NM_001146256.1	NP_001139728.1	WXS	Illumina GAIIx	Phase_I	Q96MV8	ZDH15_HUMAN			9	1337	-			296					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.860C>A	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933071	0.73442	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.50277	0.75;0.97	5.43	5.43	0.79202	.	0.323197	0.35096	N	0.003452	T	0.74442	0.3717	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.80259	-0.1457	10	0.62326	D	0.03	-2.0328	16.7653	0.85522	0.0:0.0:1.0:0.0	.	287;296	B3KVG7;Q96MV8	.;ZDH15_HUMAN	H	296;287	ENSP00000362465:P296H;ENSP00000445420:P287H	ENSP00000362465:P296H	P	-	2	0	ZDHHC15	74553727	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.417000	0.73337	2.268000	0.75426	0.513000	0.50165	CCT		0.443	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		6	95	6	95	---	---	---	---	T	74637002	G	T	74637002	3	4	158	1	0	0	0	0	1	0	0	0	17602	1000	35	1	134	1	ZDHHC15	23	74637002	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	18985988	74637002	80633558	338	7403										
ATP7A	538	broad.mit.edu	37	chrX	77254141	77254141	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	actggcatgacttgcgcttcCtgtgtagcaaacattgaacg	10	10	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.chrX:77254141C>A	ENST00000341514.6	+	5	1658	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	ATP7A_ENST00000343533.5_Silent_p.S501S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	501	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTGCGCTTCCTGTGTAGCAA	0.403																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1501-1503)tcC>tcA		ATPase, Cu++ transporting, alpha polypeptide							165	148	154					X																	77254141		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254141C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1503C>A	X.37:g.77254141C>A			Somatic				ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S501S	p.S501S	NM_000052.5	NP_000043.4	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			5	1658	+			501			HMA 5.		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.1503C>A	CCDS35339.1																																																																																				0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		6	134	6	134	---	---	---	---	A	77254141	C	A	77254141	2	1	158	1	0	0	0	0	0	0	0	1	1190	668	24	1		1	ATP7A	23	77254141	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2617139	77254141	78016419	339	7404										
BRWD3	254065	broad.mit.edu	37	chrX	79937586	79937586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	cttcatttgtttctgcttccCttttggactagaagtaaaaa	6	8	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.chrX:79937586C>A	ENST00000373275.4	-	39	4621	c.4405G>T	c.(4405-4407)Ggg>Tgg	p.G1469W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1469					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						TTCTGCTTCCCTTTTGGACTA	0.358																																						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.(4405-4407)Ggg>Tgg		bromodomain and WD repeat domain containing 3							164	138	147					X																	79937586		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79937586C>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.4405G>T	X.37:g.79937586C>A	ENSP00000362372:p.Gly1469Trp		Somatic				BRWD3_ENST00000473691.1_5'UTR	p.G1469W	NM_153252.4	NP_694984	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			39	4621	-			1469					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4405G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832534	0.50845	.	.	ENSG00000165288	ENST00000373275	T	0.55052	0.54	5.13	5.13	0.70059	.	0.272284	0.42420	D	0.000703	T	0.60235	0.2253	L	0.39898	1.24	0.48901	D	0.999726	D	0.71674	0.998	D	0.71656	0.974	T	0.58120	-0.7692	9	.	.	.	-10.6205	10.645	0.45615	0.0:0.9086:0.0:0.0914	.	1469	Q6RI45	BRWD3_HUMAN	W	1469	ENSP00000362372:G1469W	.	G	-	1	0	BRWD3	79824242	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.610000	0.54125	2.261000	0.74972	0.415000	0.27848	GGG		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	46	5	46	---	---	---	---	A	79937586	C	A	79937586	3	1	158	1	0	0	0	0	1	0	0	0	1526	681	24	1	1015	1	BRWD3	23	79937586	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	2683445	79937586	75332974	340	7405										
GPR112	139378	broad.mit.edu	37	chrX	135428404	135428404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	caagaaaagaagcaacttccCattatcttatgagaaaatca	5	8	2	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.chrX:135428404C>A	ENST00000394143.1	+	6	2830	c.2539C>A	c.(2539-2541)Cat>Aat	p.H847N	GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N|GPR112_ENST00000412101.1_Missense_Mutation_p.H642N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	847					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)					AGCAACTTCCCATTATCTTAT	0.418																																						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.(2539-2541)Cat>Aat		G protein-coupled receptor 112							137	129	132					X																	135428404		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428404C>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.2539C>A	X.37:g.135428404C>A	ENSP00000377699:p.His847Asn		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.H642N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N	p.H847N	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	2830	+	Acute lymphoblastic leukemia(192;0.000127)		847					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2539C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	5.346	0.249168	0.10130	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27402	1.7;1.7;1.67;1.81;1.67	2.99	1.08	0.20341	.	.	.	.	.	T	0.14787	0.0357	L	0.29908	0.895	0.09310	N	1	P;P;B	0.46512	0.879;0.764;0.213	B;B;B	0.39660	0.306;0.161;0.021	T	0.11060	-1.0603	9	0.02654	T	1	.	4.1467	0.10219	0.2248:0.6344:0.0:0.1408	.	784;642;847	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	847;847;642;784;642	ENSP00000377699:H847N;ENSP00000359686:H847N;ENSP00000416526:H642N;ENSP00000287534:H784N;ENSP00000377697:H642N	ENSP00000287534:H784N	H	+	1	0	GPR112	135256070	0.001000	0.12720	0.125000	0.21846	0.455000	0.32408	0.224000	0.17738	0.015000	0.14971	-0.767000	0.03436	CAT		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	119	6	119	---	---	---	---	A	135428404	C	A	135428404	3	1	158	1	0	0	0	0	1	0	0	0	6629	594	21	1	2549	1	GPR112	23	135428404	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	55490818	135428404	19842156	341	7406										
MAMLD1	10046	broad.mit.edu	37	chrX	149638074	149638074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.00584795321637427	2	1	1.72302737520129	0	1.93840579710145	0.478260869565217	1	0	agtttccagacatggctgatGggggctaccctaataaaatt	10	8	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.chrX:149638074G>T	ENST00000370401.2	+	4	539	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000468306.1_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	77					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G5fs*36(1)|p.G78fs*36(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCTGATGGGGGCTACCC	0.493																																						ENST00000370401.2																			2	Deletion - Frameshift(2)	p.G5fs*36(1)|p.G78fs*36(1)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(229-231)Ggg>Tgg		mastermind-like domain containing 1							83	85	84					X																	149638074		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638074G>T	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.229G>T	X.37:g.149638074G>T	ENSP00000359428:p.Gly77Trp		Somatic				MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W	p.G77W			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	539	+	Acute lymphoblastic leukemia(192;6.56e-05)		77					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.229G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476554	0.44044	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.66099	0.22;-0.19;0.22;0.22	5.36	4.5	0.54988	.	0.720818	0.13109	N	0.413095	T	0.73442	0.3587	L	0.54323	1.7	0.24535	N	0.994097	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.81914	0.965;0.995;0.955;0.995	T	0.62072	-0.6931	10	0.72032	D	0.01	-3.8837	9.6411	0.39839	0.1638:0.0:0.8362:0.0	.	39;52;52;77	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	W	39;77;52;77;77;52	ENSP00000359428:G77W;ENSP00000414517:G52W;ENSP00000262858:G77W;ENSP00000397438:G52W	ENSP00000262858:G77W	G	+	1	0	MAMLD1	149388732	0.957000	0.32711	0.092000	0.20876	0.935000	0.57460	4.370000	0.59517	1.042000	0.40150	0.600000	0.82982	GGG		0.493	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	77	5	77	---	---	---	---	T	149638074	G	T	149638074	3	4	158	1	0	0	0	0	1	0	0	0	9208	1348	47	1	239	1	MAMLD1	23	149638074	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	14209670	149638074	5632486	342	7407										
SPRR3	6707	broad.mit.edu	37	chr1	152975781	152975781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ggctgtaccaaggtccctgaGccaggttgtaccaaggtccc	12	13	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.chr1:152975781G>A	ENST00000295367.4	+	2	327	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_ENST00000331860.3_Silent_p.E95E|SPRR3_ENST00000542696.1_Intron	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			Somatic				SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000295367.4_Silent_p.E95E	p.E95E	NM_005416.2	NP_005407.1	WXS	Illumina GAIIx	Phase_I	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	18	38	---	---	---	---	A	152975781	G	A	152975781	2	1	159	1	0	0	0	0	0	0	0	1	15102	962	34	2		2	SPRR3	1	152975781	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		152975781	96274840	1	7408										
RPSA	3921	broad.mit.edu	37	chr3	39450137	39450137	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	aagaggacctgggagaagctTctgctggcagctcgtgcaat	14	9	1	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.chr3:39450137T>G	ENST00000301821.6	+	3	283	c.174T>G	c.(172-174)ctT>ctG	p.L58L	SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000478027.1_3'UTR|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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	16	46	---	---	---	---	G	39450137	T	G	39450137	2	3	159	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	2	7409										
FOXP1	27086	broad.mit.edu	37	chr3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	caggtgggtcatcatggcttGcaggcgttctttgtcttttg	13	8	4	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.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_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*	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*		Somatic				FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*	p.Q363*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	WXS	Illumina GAIIx	Phase_I	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	63	154	---	---	---	---	A	71037204	G	A	71037204	4	1	159	1	0	0	0	0	0	1	0	0	6026	1328	46	2	978	2	FOXP1	3	71037204	Nonsense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	31587067	71037204	126985226	3	7410										
TLR1	7096	broad.mit.edu	37	chr4	38798749	38798749	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	aattcagacatgtgaaagtcCtttagtagggttcctctata	8	7	2	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.chr4:38798749C>T	ENST00000502213.2	-	3	1933	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Silent_p.K568K			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			Somatic				TLR1_ENST00000502213.2_Silent_p.K568K	p.K568K	NM_003263.3	NP_003254.2	WXS	Illumina GAIIx	Phase_I	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	32	111	---	---	---	---	T	38798749	C	T	38798749	2	4	159	1	0	0	0	0	0	0	0	1	15946	680	24	2		2	TLR1	4	38798749	Silent	SNP	C	TCGA-HC-7209-01A-11D-2114-08		38798749	152355527	4	7411										
DCHS2	54798	broad.mit.edu	37	chr4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	aagcgtgcttccaaccagagCatcctcacttaggctaagat	8	12	1	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.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																																						ENST00000357232.4																			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		Somatic					p.A2107S	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6318	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	5	207	---	---	---	---	A	155158120	C	A	155158120	3	1	159	1	0	0	0	0	1	0	0	0	4288	710	25	3	2435	3	DCHS2	4	155158120	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	116359371	155158120	35996156	5	7412										
RXFP1	59350	broad.mit.edu	37	chr4	159549858	159549858	+	Frame_Shift_Del	DEL	A	A	-													0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	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_ENST00000448688.2_Frame_Shift_Del_p.E194fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_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	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)gaafs		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		Somatic				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	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	WXS	Illumina GAIIx	Phase_I	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	159	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	6	7413										
C7orf51	222950	broad.mit.edu	37	chr7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	cctcaggatgggtttcatgaCgatgcccgcctcccaggagc	12	14	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.chr7:100084560C>T	ENST00000300179.2	+	3	344	c.185C>T	c.(184-186)aCg>aTg	p.T62M	NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M|NYAP1_ENST00000423930.1_Missense_Mutation_p.T62M	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		Somatic				NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M	p.T62M			WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	T	100084560	C	T	100084560	3	4	159	1	0	0	0	0	1	0	0	0	2400	536	19	2	191	2	C7orf51	7	100084560	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		100084560	59054103	7	7414										
KIFC2	90990	broad.mit.edu	37	chr8	145697577	145697577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ctgcagtcgctgttccgggaGatgggggccggccggcagca	18	12	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	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E|FOXH1_ENST00000525197.1_5'Flank	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			Somatic				KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E	p.E514E	NM_145754.2	NP_665697.1	WXS	Illumina GAIIx	Phase_I	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	3	74	---	---	---	---	A	145697577	G	A	145697577	2	1	159	1	0	0	0	0	0	0	0	1	8313	933	33	2		2	KIFC2	8	145697577	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		145697577	666445	8	7415										
ABL1	25	broad.mit.edu	37	chr9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	aattgacctgtcccaggtgtAtgagctgctagagaaggact	12	8	0	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		Somatic					p.Y449C	NM_005157.4	NP_005148.2	WXS	Illumina GAIIx	Phase_I	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	62	178	---	---	---	---	G	133753877	A	G	133753877	3	3	159	1	0	0	0	0	1	0	0	0	92	449	16	2	1516	2	ABL1	9	133753877	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		133753877	7459554	9	7416										
LDB3	11155	broad.mit.edu	37	chr10	88447004	88447004	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	atgccatcgctgggcaggccCaagcccaaggcagtgacttc	12	14	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.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_ENST00000361373.4_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.Q290*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron	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*		Somatic				LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000352360.5_Intron	p.Q290*	NM_001171610.1	NP_001165081.1	WXS	Illumina GAIIx	Phase_I	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	21	82	---	---	---	---	T	88447004	C	T	88447004	4	4	159	1	0	0	0	0	0	1	0	0	8697	595	21	2	913	2	LDB3	10	88447004	Nonsense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		88447004	47087743	10	7417										
ZNF828	283489	broad.mit.edu	37	chr13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	agaagcacgcaaacgtgcccTttttccagagccccggaagc	10	14	0	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		Somatic					p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina GAIIx	Phase_I	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	5	328	---	---	---	---	C	115090966	T	C	115090966	3	2	159	1	0	0	0	0	1	0	0	0	18178	1609	56	2	1651	2	ZNF828	13	115090966	Missense_Mutation	SNP	T	TCGA-HC-7209-01A-11D-2114-08		115090966	78912	11	7418										
C14orf159	80017	broad.mit.edu	37	chr14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	gaagattgttgaagatgctgTtgagcaaggtaagcagtgag	15	3	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.chr14:91655506T>G	ENST00000523771.1	+	9	1775	c.1172T>G	c.(1171-1173)gTt>gGt	p.V391G	C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000518868.1_Missense_Mutation_p.V396G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G			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		Somatic				C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G	p.V396G			WXS	Illumina GAIIx	Phase_I	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	19	87	---	---	---	---	G	91655506	T	G	91655506	3	3	159	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	12	7419										
C16orf88	400506	broad.mit.edu	37	chr16	19725711	19725711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ctccctcctggtggatttttTttttcttcttcaccttccca	4	14	3	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.chr16:19725711T>G	ENST00000219837.7	-	2	725	c.647A>C	c.(646-648)aAa>aCa	p.K216T	AC002550.5_ENST00000565916.1_RNA|IQCK_ENST00000320394.6_5'Flank|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		Somatic				AC002550.5_ENST00000565916.1_RNA	p.K216T	NM_001012991.2	NP_001013009.2	WXS	Illumina GAIIx	Phase_I					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	3	59	---	---	---	---	G	19725711	T	G	19725711	3	3	159	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	13	7420										
KIAA1328	57536	broad.mit.edu	37	chr18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ctggaatcatggtactttccGactcagtcctctaaaatcaa	6	11	4	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.chr18:34802090G>T	ENST00000280020.5	+	10	1656	c.1634G>T	c.(1633-1635)cGa>cTa	p.R545L	KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541L|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR	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		Somatic				KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR	p.R541L			WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	T	34802090	G	T	34802090	3	4	159	1	0	0	0	0	1	0	0	0	8225	1058	37	3	1672	3	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08		34802090	43275158	14	7421										
YJEFN3	374887	broad.mit.edu	37	chr19	19645880	19645880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	tctctcccggaagcagaggaCggtgctggtcgtgtgtggcc	16	11	1	1	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	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.T118M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M|YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M	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	374887							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		Somatic				YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.4_Missense_Mutation_p.T119M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M	p.T118M			WXS	Illumina GAIIx	Phase_I					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	73	152	---	---	---	---	T	19645880	C	T	19645880	3	4	159	1	0	0	0	0	1	0	0	0	17481	536	19	2	370	2	YJEFN3	19	19645880	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		19645880	39483103	15	7422										
VPS16	64601	broad.mit.edu	37	chr20	2842496	2842496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ctggtgcctgagctcgatggGgtccgcatcttctcccgcag	13	14	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.chr20:2842496G>A	ENST00000380445.3	+	10	1017	c.945G>A	c.(943-945)ggG>ggA	p.G315G	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_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			Somatic				VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	p.G315G	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	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	7	24	---	---	---	---	A	2842496	G	A	2842496	2	1	159	1	0	0	0	0	0	0	0	1	17190	1219	43	2		2	VPS16	20	2842496	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		2842496	60183024	16	7423										
IL3RA	3563	broad.mit.edu	37	chrX	1501315	1501315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.01111111111111	NA	1.01111111111111	1	1	0	ggcgggcaaagccggcctggAggagtgtctggtgactgaag	19	8	1	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.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		Somatic				IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	p.E365G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	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	32	161	---	---	---	---	G	1501315	A	G	1501315	3	3	159	1	0	0	0	0	1	0	0	0	7695	304	11	2	1136	2	IL3RA	23	1501315	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		1501315	153769245	17	7424										
PARK7	11315	broad.mit.edu	37	chr1	8025453	8025453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gccgtgatgtggtcatttgtCctgatgccagccttgaagat	12	9	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.chr1:8025453C>G	ENST00000493678.1	+	3	227	c.160C>G	c.(160-162)Cct>Gct	p.P54A	PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_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	11315				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		Somatic				PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000497113.1_3'UTR	p.P54A			WXS	Illumina GAIIx	Phase_I	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	15	48	---	---	---	---	G	8025453	C	G	8025453	3	3	160	1	0	0	0	0	1	0	0	0	11450	855	30	4	166	4	PARK7	1	8025453	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		8025453	241225168	1	7425										
F5	2153	broad.mit.edu	37	chr1	169489881	169489881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	attctcttttattgtagaggCatctgaattgccattaaaat	6	6	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.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		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.A2024T	p.A2029T			WXS	Illumina GAIIx	Phase_I	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	9	47	---	---	---	---	T	169489881	C	T	169489881	3	4	160	1	0	0	0	0	1	0	0	0	5348	710	25	2	620	2	F5	1	169489881	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	161464428	169489881	79760740	2	7426										
ZNF512	84450	broad.mit.edu	37	chr2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	aagactatcgagaatttcctCagaagaagcataagctttat	7	7	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.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L	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*		Somatic				RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000556601.1_Silent_p.L28L|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*	p.Q118*	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	WXS	Illumina GAIIx	Phase_I	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	10	47	---	---	---	---	T	27822524	C	T	27822524	4	4	160	1	0	0	0	0	0	1	0	0	17953	827	29	2	366	2	ZNF512	2	27822524	Nonsense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		27822524	215376849	3	7427										
BIRC6	57448	broad.mit.edu	37	chr2	32712725	32712725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	aattttcagtatcacagtctCccactggaacagatgattca	6	10	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.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		Somatic					p.P2609T	NM_016252.3	NP_057336	WXS	Illumina GAIIx	Phase_I	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	25	85	---	---	---	---	A	32712725	C	A	32712725	3	1	160	1	0	0	0	0	1	0	0	0	1438	855	30	3	7987	3	BIRC6	2	32712725	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	4890201	32712725	210486648	4	7428										
ATIC	471	broad.mit.edu	37	chr2	216211488	216211488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	tctgtgttcctcaggttatcGgcattggagcaggacagcag	13	9	2	0	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		Somatic				ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S	p.G442S			WXS	Illumina GAIIx	Phase_I	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	36	139	---	---	---	---	A	216211488	G	A	216211488	3	1	160	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	5	7429										
ARL4C	10123	broad.mit.edu	37	chr2	235405080	235405080	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gccgttgctcagcttgatctTctcggtgttgaagccgatgg	13	10	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.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*		Somatic				ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	p.K51*	NM_005737.3	NP_005728.2	WXS	Illumina GAIIx	Phase_I	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	14	55	---	---	---	---	A	235405080	T	A	235405080	4	1	160	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	6	7430										
OPA1	4976	broad.mit.edu	37	chr3	193380716	193380716	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	taaccacagtccggaagaacCttgaatcccgaggagtagaa	10	10	0	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_ENST00000361150.2_Missense_Mutation_p.L822V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361510.2_Missense_Mutation_p.L876V	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		Somatic				OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V	p.L876V	NM_130837.2	NP_570850.2	WXS	Illumina GAIIx	Phase_I	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	17	59	---	---	---	---	G	193380716	C	G	193380716	3	3	160	1	0	0	0	0	1	0	0	0	10871	681	24	4	2728	4	OPA1	3	193380716	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		193380716	4641714	7	7431										
SLAIN2	57606	broad.mit.edu	37	chr4	48371866	48371866	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	tttttgttgtcttcttctagGctgtattcatcaccaaagaa	6	8	5	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.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.(388-390)tgG>tgT		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			Somatic				SLAIN2_ENST00000506375.1_3'UTR	p.W130C	NM_020846.1	NP_065897.1	WXS	Illumina GAIIx	Phase_I	Q9P270	SLAI2_HUMAN			2	808	+			130					A8K4P1|Q8N5R3	Splice_Site	SNP	ENST00000264313.6	37	c.390G>T	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	15	57	---	---	---	---	T	48371866	G	T	48371866	5	4	160	1	0	0	0	0	0	0	1	0	14366	1217	42	3	396	3	SLAIN2	4	48371866	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08		48371866	142782410	8	7432										
TIGD2	166815	broad.mit.edu	37	chr4	90034422	90034422	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gatgggattccagtgtccggAacgatttgtgcaaaacaagc	12	8	0	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.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			Somatic					p.G99G	NM_145715.2	NP_663761.1	WXS	Illumina GAIIx	Phase_I	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	11	118	---	---	---	---	G	90034422	A	G	90034422	2	3	160	1	0	0	0	0	0	0	0	1	15893	233	9	2		2	TIGD2	4	90034422	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08	41662556	90034422	101119854	9	7433										
SMARCA5	8467	broad.mit.edu	37	chr4	144466687	144466687	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ctttcctccacgtttatttgAattactggaaaaagaaattc	5	8	0	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.chr4:144466687A>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		Somatic					p.E783V	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	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	15	59	---	---	---	---	T	144466687	A	T	144466687	3	4	160	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	54432265	144466687	46687589	10	7434										
FBN2	2201	broad.mit.edu	37	chr5	127710364	127710364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	cccacagccaggcctgggggAcagtcacagcggaaggaccc	14	15	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			Somatic				FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C|FBN2_ENST00000511489.1_5'UTR	p.C684C			WXS	Illumina GAIIx	Phase_I	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	24	68	---	---	---	---	G	127710364	A	G	127710364	2	3	160	1	0	0	0	0	0	0	0	1	5703	273	10	2		2	FBN2	5	127710364	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08		127710364	53204896	11	7435										
SLC26A8	116369	broad.mit.edu	37	chr6	35927511	35927511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ctcttttaacagcttatgctTtaggtagtaaacatttacaa	5	7	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.chr6:35927511T>C	ENST00000490799.1	-	15	2064	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E	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		Somatic				SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E	p.K571E	NM_052961.3	NP_443193.1	WXS	Illumina GAIIx	Phase_I	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	22	100	---	---	---	---	C	35927511	T	C	35927511	3	2	160	1	0	0	0	0	1	0	0	0	14523	1850	64	2	1225	2	SLC26A8	6	35927511	Missense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08		35927511	135187556	12	7436										
AUTS2	26053	broad.mit.edu	37	chr7	70252229	70252229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ttcggccacaaggatggcccCagtgtgcagaactttagcaa	11	11	0	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.chr7:70252229C>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			Somatic				AUTS2_ENST00000406775.2_Silent_p.P757P	p.P781P	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	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	13	37	---	---	---	---	A	70252229	C	A	70252229	2	1	160	1	0	0	0	0	0	0	0	1	1225	581	21	1		1	AUTS2	7	70252229	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		70252229	88886434	13	7437										
RELN	5649	broad.mit.edu	37	chr7	103180802	103180802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gaactcctgaagaagactccAcgagaggccaccgttgagag	12	11	0	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.chr7:103180802A>G	ENST00000428762.1	-	44	6931	c.6772T>C	c.(6772-6774)Tgg>Cgg	p.W2258R	RELN_ENST00000343529.5_Missense_Mutation_p.W2258R|RELN_ENST00000424685.2_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		Somatic				RELN_ENST00000428762.1_Missense_Mutation_p.W2258R|RELN_ENST00000343529.5_Missense_Mutation_p.W2258R	p.W2258R			WXS	Illumina GAIIx	Phase_I	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	21	102	---	---	---	---	G	103180802	A	G	103180802	3	3	160	1	0	0	0	0	1	0	0	0	13220	159	6	2	3698	2	RELN	7	103180802	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	32928573	103180802	55957861	14	7438										
CDHR3	222256	broad.mit.edu	37	chr7	105660967	105660967	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ccttgattccagccccagatCtttccgttattccattggcc	6	15	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.chr7:105660967C>T	ENST00000317716.9	+	13	1882	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	CDHR3_ENST00000542731.1_Missense_Mutation_p.S601F|CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_Intron	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		Somatic				CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000470188.1_Intron	p.S601F			WXS	Illumina GAIIx	Phase_I	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	19	61	---	---	---	---	T	105660967	C	T	105660967	3	4	160	1	0	0	0	0	1	0	0	0	3120	913	32	2	1852	2	CDHR3	7	105660967	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	2480165	105660967	53477696	15	7439										
TSPAN12	23554	broad.mit.edu	37	chr7	120455842	120455842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ttctacacagaaaatgacaaGcaaacttccaaagtactgta	5	9	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.chr7:120455842G>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		Somatic				TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	p.L101F	NM_012338.3	NP_036470.1	WXS	Illumina GAIIx	Phase_I	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	4	34	---	---	---	---	A	120455842	G	A	120455842	3	1	160	1	0	0	0	0	1	0	0	0	16633	971	34	2	632	2	TSPAN12	7	120455842	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08	14794875	120455842	38682821	16	7440										
HIPK2	28996	broad.mit.edu	37	chr7	139285234	139285234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ggctgctgccgcatcacgtgGgccacacccacatttaaggg	12	14	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.chr7:139285234G>A	ENST00000406875.3	-	11	2458	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	HIPK2_ENST00000342645.6_Silent_p.A788A|HIPK2_ENST00000428878.2_Silent_p.A761A	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			Somatic				HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	p.A788A	NM_022740.4	NP_073577.3	WXS	Illumina GAIIx	Phase_I	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	14	56	---	---	---	---	A	139285234	G	A	139285234	2	1	160	1	0	0	0	0	0	0	0	1	7117	1219	43	2		2	HIPK2	7	139285234	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08	18829392	139285234	19853429	17	7441										
DIP2C	22982	broad.mit.edu	37	chr10	408505	408505	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	taggacattgcaggggtgcaGagagccctccagaaaaagct	13	9	0	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			Somatic				DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.L228L	p.L907L	NM_014974.2	NP_055789.1	WXS	Illumina GAIIx	Phase_I	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	11	48	---	---	---	---	A	408505	G	A	408505	2	1	160	1	0	0	0	0	0	0	0	1	4529	933	33	2		2	DIP2C	10	408505	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08		408505	135126242	18	7442										
A1CF	29974	broad.mit.edu	37	chr10	52603796	52603796	+	Frame_Shift_Del	DEL	T	T	-													0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	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_ENST00000374001.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373997.3_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																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(184-186)aaafs		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		Somatic				A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395489.2_Frame_Shift_Del_p.K55fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs	p.K62fs			WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			3	325	-						RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Del	DEL	ENST00000373993.1	37	c.186delA	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	160	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	19	7443										
KNDC1	85442	broad.mit.edu	37	chr10	135015083	135015083	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ggtgtcggatgtggactcggAcgcactgtcacggggaaact	16	9	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		Somatic				KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G|KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G	p.D1023G			WXS	Illumina GAIIx	Phase_I	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	16	74	---	---	---	---	G	135015083	A	G	135015083	3	3	160	1	0	0	0	0	1	0	0	0	8426	275	10	2	3134	2	KNDC1	10	135015083	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	82411287	135015083	519664	20	7444										
ARID2	196528	broad.mit.edu	37	chr12	46245168	46245168	+	Frame_Shift_Del	DEL	A	A	-													0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	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_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs	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)aatfs		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		Somatic				ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs	p.N1089fs	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	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	160	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	21	7445										
KRT6C	286887	broad.mit.edu	37	chr12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ggccttctgcagggcatcctCcagcccttccagcttgttct	9	16	2	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.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		Somatic					p.E431K	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	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	18	66	---	---	---	---	T	52863587	C	T	52863587	3	4	160	1	0	0	0	0	1	0	0	0	8482	864	30	2	415	2	KRT6C	12	52863587	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	6618419	52863587	80988308	22	7446										
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061228	+	In_Frame_Del	DEL	CGTTCTCGA	CGTTCTCGA	-													0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	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_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C	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)ttcgagaacggc>tgc		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		Somatic				FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_224FENG>C	p.254_257FENG>C	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	160	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		38061220	69288320	23	7447										
RYR3	6263	broad.mit.edu	37	chr15	34137219	34137219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gtgccctggccatcatccatAccatcatctctctagtctgt	6	15	5	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.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		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	p.T4485A	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	13	66	---	---	---	---	G	34137219	A	G	34137219	3	3	160	1	0	0	0	0	1	0	0	0	13770	391	14	2	13823	2	RYR3	15	34137219	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08		34137219	68394173	24	7448										
BBS4	585	broad.mit.edu	37	chr15	73029880	73029880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	cctctggagccagagcctgcGgtggaatcaagtccaactga	12	12	2	2	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			Somatic				BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A|BBS4_ENST00000395205.2_Silent_p.A512A	p.A504A	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	A	73029880	G	A	73029880	2	1	160	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	25	7449										
ITFG3	83986	broad.mit.edu	37	chr16	314964	314964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	ctgggtgagggtgggccagaCagtgaccaagccatcaggga	17	9	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.chr16:314964C>T	ENST00000399932.3	+	13	2053	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron	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			Somatic				ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron	p.D534D	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	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	14	61	---	---	---	---	T	314964	C	T	314964	2	4	160	1	0	0	0	0	0	0	0	1	7871	477	17	2		2	ITFG3	16	314964	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		314964	90039789	26	7450										
ABCA9	10350	broad.mit.edu	37	chr17	67016632	67016632	+	Frame_Shift_Del	DEL	T	T	-													0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	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-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	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)aggfs		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		Somatic				ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	p.R833fs	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	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	160	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	27	7451										
BRD1	23774	broad.mit.edu	37	chr22	50217248	50217248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gtagcactcctggtgcacggCcaggttgcacatgtcgcaga	13	12	0	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.chr22:50217248C>T	ENST00000216267.8	-	1	1204	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank	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		Somatic				BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T	p.A240T	NM_014577.1	NP_055392.1	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	T	50217248	C	T	50217248	3	4	160	1	0	0	0	0	1	0	0	0	1501	739	26	2	2506	2	BRD1	22	50217248	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		50217248	1087318	28	7452										
GPR119	139760	broad.mit.edu	37	chrX	129518743	129518743	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.43796992481203	0	1.83014354066986	0.1	1	0	gctcccaatgagaacagacaCagtacggagagctttgaagt	11	9	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.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		Somatic					p.V227L	NM_178471.2	NP_848566.1	WXS	Illumina GAIIx	Phase_I	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	27	20	---	---	---	---	G	129518743	C	G	129518743	3	3	160	1	0	0	0	0	1	0	0	0	6634	478	17	4	332	4	GPR119	23	129518743	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		129518743	25751817	29	7453										
ELTD1	64123	broad.mit.edu	37	chr1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	ataggaacaattcaacaaagTggaaaaaaccactaaataaa	5	6	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.chr1:79470893T>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		Somatic					p.T12S	NM_022159.3	NP_071442.2	WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	A	79470893	T	A	79470893	3	1	161	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		79470893	169779728	1	7454										
OBSCN	84033	broad.mit.edu	37	chr1	228466409	228466409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	gagctgccagtgaccctcgtGcgcccgctgcgggacaagat	14	14	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.chr1:228466409G>A	ENST00000422127.1	+	26	6923	c.6879G>A	c.(6877-6879)gtG>gtA	p.V2293V	RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Silent_p.V2722V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000366707.4_5'UTR|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			Somatic				OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000422127.1_Silent_p.V2293V	p.V2722V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	11	84	---	---	---	---	A	228466409	G	A	228466409	2	1	161	1	0	0	0	0	0	0	0	1	10812	1306	46	2		2	OBSCN	1	228466409	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08	148995516	228466409	20784212	2	7455										
ZNF695	57116	broad.mit.edu	37	chr1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	atttattgcattgaaagtttTtgctatgagtagttgctgag	10	3	0	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.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		Somatic				ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.K154R	NM_020394.4	NP_065127	WXS	Illumina GAIIx	Phase_I	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	24	245	---	---	---	---	C	247151356	T	C	247151356	3	2	161	1	0	0	0	0	1	0	0	0	18095	1841	64	2	1090	2	ZNF695	1	247151356	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	18684947	247151356	2099265	3	7456										
C1QL2	165257	broad.mit.edu	37	chr2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	ctggtgccgtcgccgccgcgCatgaggatgtggtaggtgaa	17	10	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.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)	Somatic					p.M211I	NM_182528.3	NP_872334.2	WXS	Illumina GAIIx	Phase_I	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	25	45	---	---	---	---	T	119915213	C	T	119915213	3	4	161	1	0	0	0	0	1	0	0	0	1959	710	25	2	238	2	C1QL2	2	119915213	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		119915213	123284160	4	7457										
TNFAIP6	7130	broad.mit.edu	37	chr2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	aggtttccaaatcaaatatgTtgcaatggatcctgtatcca	7	8	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.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		Somatic					p.V245A	NM_007115.3	NP_009046.2	WXS	Illumina GAIIx	Phase_I	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	15	159	---	---	---	---	C	152235947	T	C	152235947	3	2	161	1	0	0	0	0	1	0	0	0	16272	1725	60	2	756	2	TNFAIP6	2	152235947	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	32320734	152235947	90963426	5	7458										
CAND2	23066	broad.mit.edu	37	chr3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	gcaggttcatggccaccagcGacctgatgtcggagttgcag	14	11	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.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		Somatic				CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	p.D29Y	NM_001162499.1	NP_001155971.1	WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	T	12845003	G	T	12845003	3	4	161	1	0	0	0	0	1	0	0	0	2616	1058	37	3	91	3	CAND2	3	12845003	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		12845003	185177427	6	7459										
LRRC16A	55604	broad.mit.edu	37	chr6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	tacgaaattgtgggggagacGctatccaggaagatttaaaa	12	5	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.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		Somatic					p.A712T	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	A	25538149	G	A	25538149	3	1	161	1	0	0	0	0	1	0	0	0	8971	1087	38	2	2232	2	LRRC16A	6	25538149	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		25538149	145576918	7	7460										
TAF5	6877	broad.mit.edu	37	chr10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	acatgtacttggagctagtcTacaatcaacatgagaatgaa	8	7	2	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.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		Somatic				TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	p.Y253N	NM_006951.3	NP_008882.2	WXS	Illumina GAIIx	Phase_I	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	29	54	---	---	---	---	A	105133312	T	A	105133312	3	1	161	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	8	7461										
AHNAK2	113146	broad.mit.edu	37	chr14	105420975	105420975	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	gacctctggggtcccggcccCcgcttgctctttatggattg	12	14	2	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.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			Somatic					p.R271R	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	7	19	---	---	---	---	A	105420975	C	A	105420975	2	1	161	1	0	0	0	0	0	0	0	1	415	610	22	1		1	AHNAK2	14	105420975	Silent	SNP	C	TCGA-HC-7211-01A-11D-2114-08		105420975	1928565	9	7462										
FBN1	2200	broad.mit.edu	37	chr15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	cgccaggtaaggttttccatCcagggcaacagtaagcatta	10	10	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.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		Somatic					p.G70A	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	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	15	134	---	---	---	---	G	48905245	C	G	48905245	3	3	161	1	0	0	0	0	1	0	0	0	5702	855	30	4	8662	4	FBN1	15	48905245	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		48905245	53626147	10	7463										
RPL28	6158	broad.mit.edu	37	chr19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	aggtgtcgtggtggtcattaAgcggagatccggtgagtttt	16	5	1	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.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_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		Somatic				RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M	p.K65M			WXS	Illumina GAIIx	Phase_I	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	47	113	---	---	---	---	T	55898050	A	T	55898050	3	4	161	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		55898050	3230933	11	7464										
ENTPD6	955	broad.mit.edu	37	chr20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	gttggtcagcccttgcttgtCtcccagtttcaaaggagagt	11	10	3	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.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	955					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		Somatic				ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	p.S326F	NM_001247.2	NP_001238.2	WXS	Illumina GAIIx	Phase_I	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	20	43	---	---	---	---	T	25201904	C	T	25201904	3	4	161	1	0	0	0	0	1	0	0	0	5143	913	32	2	1025	2	ENTPD6	20	25201904	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		25201904	37823616	12	7465										
MED15	51586	broad.mit.edu	37	chr22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.153846153846154	2	0.968713181754189	2.92222222222222	4.38333333333333	2.19166666666667	1	1	0	cagcagcagacagcagtacaGacagctcaggctgcccagat	11	13	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.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H	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		Somatic				MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H	p.Q371H	NM_001003891.1	NP_001003891.1	WXS	Illumina GAIIx	Phase_I	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	12	42	---	---	---	---	C	20922879	G	C	20922879	3	2	161	1	0	0	0	0	1	0	0	0	9433	933	33	4	1143	4	MED15	22	20922879	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		20922879	30381687	13	7466										
VPS13D	55187	broad.mit.edu	37	chr1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agaaatccggcaaactcttgAtcgtttgctagtgggtgatt	11	7	1	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.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		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	p.D693G	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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	27	53	---	---	---	---	G	12331156	A	G	12331156	3	3	162	1	0	0	0	0	1	0	0	0	17189	333	12	2	2140	2	VPS13D	1	12331156	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08		12331156	236919465	1	7467										
F3	2152	broad.mit.edu	37	chr1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacagtgcttcctttatgaaAcattcagtggggagttctcc	9	9	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.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		Somatic				F3_ENST00000370207.4_3'UTR	p.V294A	NM_001993.4	NP_001984.1	WXS	Illumina GAIIx	Phase_I	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	3	85	---	---	---	---	G	94996023	A	G	94996023	3	3	162	1	0	0	0	0	1	0	0	0	5347	43	2	2	10	2	F3	1	94996023	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	82664867	94996023	154254598	2	7468										
CTNNB1	1499	broad.mit.edu	37	chr3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctggactctggaatccatTctggtgccactaccacagct	8	14	2	0	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_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A	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		Somatic				CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A	p.S37A	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	5	46	---	---	---	---	G	41266112	T	G	41266112	3	3	162	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	3	7469										
TIFAB	140947	broad.mit.edu	37	chr5	134785319	134785319	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggatgcctgagaaggagaccCtgttgacggtgctcaggggg	18	8	1	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.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		Somatic					p.R104K	NM_001099221.1	NP_001092691.1	WXS	Illumina GAIIx	Phase_I	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	12	114	---	---	---	---	T	134785319	C	T	134785319	1	4	162	0	1	0	0	0	0	0	0	0	15892	681	24	2		2	TIFAB	5	134785319	5'Flank	SNP	C	TCGA-HC-7212-01A-11D-2114-08		134785319	46129941	4	7470										
NEDD9	4739	broad.mit.edu	37	chr6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttggtgcaggttggaggaaTgtcataaaccccctccggtc	12	11	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	76	---	---	---	---	C	11191315	T	C	11191315	3	2	162	1	0	0	0	0	1	0	0	0	10313	1464	51	2	1729	2	NEDD9	6	11191315	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		11191315	159923752	5	7471										
ZNF79	7633	broad.mit.edu	37	chr9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttccccaggccctgcccttcCccaagaggaaaacacaggag	9	16	0	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.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		Somatic				ZNF79_ENST00000543471.1_5'UTR	p.P15L	NM_007135.2	NP_009066.2	WXS	Illumina GAIIx	Phase_I	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	5	17	---	---	---	---	T	130191138	C	T	130191138	3	4	162	1	0	0	0	0	1	0	0	0	18158	623	22	2	50	2	ZNF79	9	130191138	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08		130191138	11022293	6	7472										
WDR37	22884	broad.mit.edu	37	chr10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tatctggagatacgcggtgcAgctgccgacaccccagcctg	12	14	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.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		Somatic				WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R|WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R	p.Q231R			WXS	Illumina GAIIx	Phase_I	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	8	66	---	---	---	---	G	1142152	A	G	1142152	3	3	162	1	0	0	0	0	1	0	0	0	17288	188	7	2	722	2	WDR37	10	1142152	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08		1142152	134392595	7	7473										
PTEN	5728	broad.mit.edu	37	chr10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	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)gcafs		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)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.A328fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	162	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	88578681	89720833	45813914	8	7474										
RASSF7	8045	broad.mit.edu	37	chr11	562264	562264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	cagacagctgtccacccccgGaacgctgcctaattcgtgcc	9	17	0	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.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K	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		Somatic				RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K	p.E104K	NM_003475.3	NP_003466.1	WXS	Illumina GAIIx	Phase_I	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	5	49	---	---	---	---	A	562264	G	A	562264	3	1	162	1	0	0	0	0	1	0	0	0	13091	1175	41	2	316	2	RASSF7	11	562264	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		562264	134444252	9	7475										
HBG2	3048	broad.mit.edu	37	chr11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	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)gccfs		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		Somatic				HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs|HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs	p.A75fs			WXS	Illumina GAIIx	Phase_I				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	162	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	10	7476										
AMHR2	269	broad.mit.edu	37	chr12	53819285	53819285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgcgaggtgagccagtgccAgagccaaggccagactcagg	16	11	1	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.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000550311.1_Silent_p.P183P|AMHR2_ENST00000379791.3_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			Somatic				AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P	p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	G	53819285	A	G	53819285	2	3	162	1	0	0	0	0	0	0	0	1	573	175	7	2		2	AMHR2	12	53819285	Silent	SNP	A	TCGA-HC-7212-01A-11D-2114-08		53819285	80032610	11	7477										
SSTR1	6751	broad.mit.edu	37	chr14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgttcaccagcatctactgTctgactgtgctcagcgtgga	10	11	4	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.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	6751				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*		Somatic					p.C147*	NM_001049.2	NP_001040.1	WXS	Illumina GAIIx	Phase_I	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	6	160	---	---	---	---	A	38679035	T	A	38679035	4	1	162	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	12	7478										
RYR3	6263	broad.mit.edu	37	chr15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gatgtatgattaacctggatGatgcttcaatgatcttcaca	8	7	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.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		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	p.D1156Y	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	4	145	---	---	---	---	T	33928661	G	T	33928661	3	4	162	1	0	0	0	0	1	0	0	0	13770	1290	45	3	3572	3	RYR3	15	33928661	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		33928661	68602731	13	7479										
CHD3	1107	broad.mit.edu	37	chr17	7806622	7806622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcatcggattggccaggcCaacaaagtgatgatttaccg	11	10	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.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			Somatic				CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A	p.A1235A	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	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	6	62	---	---	---	---	T	7806622	C	T	7806622	2	4	162	1	0	0	0	0	0	0	0	1	3326	581	21	2		2	CHD3	17	7806622	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08		7806622	73388588	14	7480										
NCOR1	9611	broad.mit.edu	37	chr17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgctgggatactttccctctGggtaggggtcagtgtcgatt	14	9	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.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	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*		Somatic				NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	p.Q1525*	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	A	15971376	G	A	15971376	4	1	162	1	0	0	0	0	0	1	0	0	10235	1357	47	2	2809	2	NCOR1	17	15971376	Nonsense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	8164754	15971376	65223834	15	7481										
ITGA2B	3674	broad.mit.edu	37	chr17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctcagcccctcactctgaCccaggaacaccagcacttgg	7	18	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.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		Somatic				ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	p.G425V	NM_000419.3	NP_000410.2	WXS	Illumina GAIIx	Phase_I	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	15	32	---	---	---	---	A	42458366	C	A	42458366	3	1	162	1	0	0	0	0	1	0	0	0	7876	507	18	3	1917	3	ITGA2B	17	42458366	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	26486990	42458366	38736844	16	7482										
KIAA1267	284058	broad.mit.edu	37	chr17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatacgggcaccatggttttCcaatggctgagaaacagact	10	9	0	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.chr17:44145009C>A	ENST00000262419.6	-	5	2028	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_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*		Somatic				KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*	p.E520*	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	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	4	36	---	---	---	---	A	44145009	C	A	44145009	4	1	162	1	0	0	0	0	0	1	0	0	8219	864	30	3	1803	3	KIAA1267	17	44145009	Nonsense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	1686643	44145009	37050201	17	7483										
RGS9	8787	broad.mit.edu	37	chr17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgctatgtgctggacgccgCacaaacccacatttacatgc	8	15	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.chr17:63200388C>T	ENST00000262406.9	+	15	1239	c.1172C>T	c.(1171-1173)gCa>gTa	p.A391V	RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000449996.3_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		Somatic				RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000262406.9_Missense_Mutation_p.A391V	p.A388V	NM_001081955.2	NP_001075424.1	WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	T	63200388	C	T	63200388	3	4	162	1	0	0	0	0	1	0	0	0	13313	710	25	2	1230	2	RGS9	17	63200388	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	19055379	63200388	17994822	18	7484										
SLC16A6	9120	broad.mit.edu	37	chr17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ctcaatgcccacgacatcatCctcagcaagcagtggaatgt	8	13	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		Somatic				SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N|ARSG_ENST00000448504.2_Intron	p.D410N	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	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	8	97	---	---	---	---	T	66267073	C	T	66267073	3	4	162	1	0	0	0	0	1	0	0	0	14412	855	30	2	351	2	SLC16A6	17	66267073	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	3066685	66267073	14928137	19	7485										
OTOP2	92736	broad.mit.edu	37	chr17	72926528	72926528	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcatgtggaagaatgtgggTagattcctggcctccacccc	12	11	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.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			Somatic				OTOP2_ENST00000580223.1_Silent_p.G266G	p.G266G	NM_178160.2	NP_835454.1	WXS	Illumina GAIIx	Phase_I	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	76	169	---	---	---	---	C	72926528	T	C	72926528	2	2	162	1	0	0	0	0	0	0	0	1	11306	1625	57	2		2	OTOP2	17	72926528	Silent	SNP	T	TCGA-HC-7212-01A-11D-2114-08	6659455	72926528	8268682	20	7486										
RDH8	50700	broad.mit.edu	37	chr19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtcgccagcatctccctggTggagccaggccccgtggtca	14	15	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.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		Somatic				RDH8_ENST00000171214.1_Missense_Mutation_p.V183A	p.V203A			WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	C	10131942	T	C	10131942	3	2	162	1	0	0	0	0	1	0	0	0	13196	1696	59	2	566	2	RDH8	19	10131942	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		10131942	48997041	21	7487										
PRKACA	5566	broad.mit.edu	37	chr19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggggtgccgcacaaggtccAagtgcggcccttcacgcgct	14	14	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.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		Somatic				PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	p.W197G	NM_002730.3	NP_002721.1	WXS	Illumina GAIIx	Phase_I	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	7	39	---	---	---	---	C	14208444	A	C	14208444	3	2	162	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	22	7488										
ANKLE1	126549	broad.mit.edu	37	chr19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agaagcaagggcactgctatGgagtggtggcaggctggcca	17	8	0	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_ENST00000433424.2_3'UTR|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R	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		Somatic				ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	p.G573R	NM_152363.4	NP_689576	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	A	17397230	G	A	17397230	3	1	162	1	0	0	0	0	1	0	0	0	632	1349	47	2	1751	2	ANKLE1	19	17397230	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	3188786	17397230	41731753	23	7489										
SYCP2	10388	broad.mit.edu	37	chr20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgtcttccttctgatgatcTagatttcagtgatgcagcat	8	8	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.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		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G	p.R542G			WXS	Illumina GAIIx	Phase_I	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	16	46	---	---	---	---	C	58470533	T	C	58470533	3	2	162	1	0	0	0	0	1	0	0	0	15429	1530	53	2	3072	2	SYCP2	20	58470533	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		58470533	4554987	24	7490										
ASCC2	84164	broad.mit.edu	37	chr22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcgttcctgggttgtctcgCggctctgcccatggcctcgg	14	14	2	0	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_ENST00000542393.1_Missense_Mutation_p.R645H|ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H			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		Somatic				ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H	p.R721H			WXS	Illumina GAIIx	Phase_I	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	12	328	---	---	---	---	T	30185114	C	T	30185114	3	4	162	1	0	0	0	0	1	0	0	0	1032	768	27	2	115	2	ASCC2	22	30185114	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08		30185114	21119452	25	7491										
KDM6A	7403	broad.mit.edu	37	chrX	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-													0	0	1	0	NA	0	1	1	0	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_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs	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.(4003-4005)gaa>g		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			Somatic				KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs	p.E1335fs	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			27	4045_4046	+			1335					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4004_4005delAAGT	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	162	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	26	7492										
HFM1	164045	broad.mit.edu	37	chr1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tttgtatcatcaggaacactCttctcaggtgctatctcagt	7	10	5	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.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	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)	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		Somatic				HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K140N	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	21	66	---	---	---	---	G	91859724	C	G	91859724	3	3	163	1	0	0	0	0	1	0	0	0	7083	912	32	4	4031	4	HFM1	1	91859724	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		91859724	157390897	1	7493										
VIT	5212	broad.mit.edu	37	chr2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	caagagggtgggctactggaGtggtggcaccagcacggggg	20	8	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.chr2:37035976G>A	ENST00000389975.3	+	14	2008	c.1706G>A	c.(1705-1707)aGt>aAt	p.S569N	VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000379242.3_Missense_Mutation_p.S584N	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		Somatic				VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N	p.S584N	NM_053276.3	NP_444506.2	WXS	Illumina GAIIx	Phase_I	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	3	64	---	---	---	---	A	37035976	G	A	37035976	3	1	163	1	0	0	0	0	1	0	0	0	17168	1029	36	2	1930	2	VIT	2	37035976	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		37035976	206163397	2	7494										
OTX1	5013	broad.mit.edu	37	chr2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	caggctcagcgcccgcgtccGtgtcggtgccggagccattg	15	15	1	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.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																																						ENST00000366671.3																			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		Somatic				OTX1_ENST00000282549.2_Missense_Mutation_p.V191M	p.V191M	NM_001199770.1	NP_001186699.1	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	A	63282957	G	A	63282957	3	1	163	1	0	0	0	0	1	0	0	0	11320	1145	40	2	581	2	OTX1	2	63282957	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	26246981	63282957	179916416	3	7495										
DOK1	1796	broad.mit.edu	37	chr2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	ccccttggacagcacgtctgCtcaggcaggagagggagtac	14	12	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.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_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		Somatic				DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000340004.6_3'UTR	p.A324G	NM_001381.3	NP_001372.1	WXS	Illumina GAIIx	Phase_I	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	26	100	---	---	---	---	G	74783766	C	G	74783766	3	3	163	1	0	0	0	0	1	0	0	0	4696	797	28	4	989	4	DOK1	2	74783766	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	11500809	74783766	168415607	4	7496										
UBR3	130507	broad.mit.edu	37	chr2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gctcacccagttagaagagaTgaatccacagtaagtataat	8	8	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.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		Somatic				UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K	p.M1516K			WXS	Illumina GAIIx	Phase_I	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	13	33	---	---	---	---	A	170885949	T	A	170885949	3	1	163	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	5	7497										
PLSCR1	5359	broad.mit.edu	37	chr3	146246434	146246434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tctaatccaggtggacagttTaatggaggctgtggcgctgg	15	7	1	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.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_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			Somatic				PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron	p.L93L	NM_021105.2	NP_066928.1	WXS	Illumina GAIIx	Phase_I	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	65	99	---	---	---	---	C	146246434	T	C	146246434	2	2	163	1	0	0	0	0	0	0	0	1	12109	1751	61	2		2	PLSCR1	3	146246434	Silent	SNP	T	TCGA-HC-7213-01A-11D-2114-08		146246434	51775996	6	7498										
PLSCR5	389158	broad.mit.edu	37	chr3	146307581	146307581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gaaatcttcccaattgtaagCttttcattaatggttttcac	5	8	3	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.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5_ENST00000482567.1_Silent_p.K200K|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5-AS1_ENST00000473817.1_RNA	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	53	---	---	---	---	T	146307581	C	T	146307581	2	4	163	1	0	0	0	0	0	0	0	1	12113	796	28	2		2	PLSCR5	3	146307581	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	61147	146307581	51714849	7	7499										
HTR3C	170572	broad.mit.edu	37	chr3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gctcttcatggcctcctccaTccttactgtcattgtcctct	5	16	4	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.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		Somatic					p.I438N	NM_130770.2	NP_570126.2	WXS	Illumina GAIIx	Phase_I	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	90	170	---	---	---	---	A	183778109	T	A	183778109	3	1	163	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	8	7500										
CDKL2	8999	broad.mit.edu	37	chr4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gtcttacttgccatacttgaCatcaccaaccaatagttctg	5	12	3	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.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		Somatic				CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	p.V177I	NM_003948.3	NP_003939.1	WXS	Illumina GAIIx	Phase_I	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	41	54	---	---	---	---	T	76532380	C	T	76532380	3	4	163	1	0	0	0	0	1	0	0	0	3154	478	17	2	984	2	CDKL2	4	76532380	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		76532380	114621896	9	7501										
HSPA9	3313	broad.mit.edu	37	chr5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-													0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	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	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000411005.1_RNA	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)aatfs		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		Somatic				HSPA9_ENST00000501917.2_Intron	p.N632fs	NM_004134.6	NP_004125.3	WXS	Illumina GAIIx	Phase_I	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	163	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		137892208	43023052	10	7502										
TRIM31	11074	broad.mit.edu	37	chr6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	caactgtggctcagtggaggCaacatagtgtttccccgctt	11	11	1	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.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-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'UTR	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		Somatic				TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T	p.A219T	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	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	5	145	---	---	---	---	T	30078314	C	T	30078314	3	4	163	1	0	0	0	0	1	0	0	0	16502	710	25	2	646	2	TRIM31	6	30078314	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		30078314	141036753	11	7503										
COL12A1	1303	broad.mit.edu	37	chr6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gaggaccctgggggcctggaGgacctatgtctccacgagga	16	11	1	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.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_ENST00000511023.1_5'Flank|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L	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		Somatic				COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L	p.P2784L	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	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	13	8	---	---	---	---	A	75812377	G	A	75812377	3	1	163	1	0	0	0	0	1	0	0	0	3669	1000	35	2	884	2	COL12A1	6	75812377	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	45734063	75812377	95302690	12	7504										
MAS1	4142	broad.mit.edu	37	chr6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	ctacacaattgtcacattatCagtgacttttctgtttggct	6	9	3	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.chr6:160328313C>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		Somatic					p.S109L	NM_002377.2	NP_002368.1	WXS	Illumina GAIIx	Phase_I	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	34	88	---	---	---	---	T	160328313	C	T	160328313	3	4	163	1	0	0	0	0	1	0	0	0	9320	838	29	2	328	2	MAS1	6	160328313	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	84515936	160328313	10786754	13	7505										
METTL11A	28989	broad.mit.edu	37	chr9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	cccaggagggcgtgattctgGacgacgtggacagcagcgtg	17	10	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.chr9:132397600G>T	ENST00000372486.1	+	4	878	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372481.3_3'UTR			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		Somatic				NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000372481.3_3'UTR	p.D177Y			WXS	Illumina GAIIx	Phase_I					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	40	78	---	---	---	---	T	132397600	G	T	132397600	3	4	163	1	0	0	0	0	1	0	0	0	9495	1174	41	3	539	3	METTL11A	9	132397600	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		132397600	8815831	14	7506										
MKI67	4288	broad.mit.edu	37	chr10	129899951	129899951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	gtcttattttggcgtctggaGcgcagggatattccctaaag	12	8	2	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.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			Somatic				MKI67_ENST00000368653.3_Silent_p.R2732R	p.R3092R	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	A	129899951	G	A	129899951	2	1	163	1	0	0	0	0	0	0	0	1	9598	958	34	2		2	MKI67	10	129899951	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		129899951	5634796	15	7507										
FIBP	9158	broad.mit.edu	37	chr11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tccaggcacctgggtcagtgGgggcctcaccgacggctcca	14	15	2	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	10	130	---	---	---	---	A	65652991	G	A	65652991	3	1	163	1	0	0	0	0	1	0	0	0	5886	1232	43	2	462	2	FIBP	11	65652991	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		65652991	69353525	16	7508										
CARD18	59082	broad.mit.edu	37	chr11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	ctttgaggcaagttgagggtCttcttcacagagatgcttga	12	7	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.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y|CARD18_ENST00000532895.1_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		Somatic				CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y	p.D80Y	NM_021571.3	NP_067546.1	WXS	Illumina GAIIx	Phase_I	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	24	179	---	---	---	---	A	105009575	C	A	105009575	3	1	163	1	0	0	0	0	1	0	0	0	2649	913	32	3	38	3	CARD18	11	105009575	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	39356584	105009575	29996941	17	7509										
EI24	9538	broad.mit.edu	37	chr11	125450015	125450015	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tttgtgagtctctttcccatCcatcttgtcggtcagctggt	9	11	3	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.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_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_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			Somatic				EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000532714.1_RNA	p.I196I	NM_004879.3	NP_004870.3	WXS	Illumina GAIIx	Phase_I	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	104	179	---	---	---	---	A	125450015	C	A	125450015	2	1	163	1	0	0	0	0	0	0	0	1	4985	845	30	3		3	EI24	11	125450015	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	20440440	125450015	9556501	18	7510										
SEMA6D	80031	broad.mit.edu	37	chr15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	agaatgaggaagacaaaaagGtcatctcattacagttggat	10	5	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.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_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		Somatic				SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F	p.V487F	NM_153618.1	NP_705871.1	WXS	Illumina GAIIx	Phase_I	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	28	50	---	---	---	---	T	48058097	G	T	48058097	3	4	163	1	0	0	0	0	1	0	0	0	14042	1261	44	3	1513	3	SEMA6D	15	48058097	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		48058097	54473295	19	7511										
CDH8	1006	broad.mit.edu	37	chr16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	caggctcaatggaaaaataaGgctgcccttccaatatacta	7	10	1	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.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_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		Somatic				CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	p.P214H	NM_001796.4	NP_001787.2	WXS	Illumina GAIIx	Phase_I	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	8	43	---	---	---	---	T	61891049	G	T	61891049	3	4	163	1	0	0	0	0	1	0	0	0	3116	1000	35	1	1794	1	CDH8	16	61891049	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		61891049	28463704	20	7512										
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	19	3	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.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_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.?(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)	Somatic				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	11	6	---	---	---	---	T	7578555	C	T	7578555	5	4	163	1	0	0	0	0	0	0	1	0	16378	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-HC-7213-01A-11D-2114-08		7578555	73616655	21	7513										
SLC5A10	125206	broad.mit.edu	37	chr17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	acctgagtacattcagaagcGctacgggggccagcggatcc	13	12	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.chr17:18863892G>A	ENST00000395645.3	+	5	398	c.380G>A	c.(379-381)cGc>cAc	p.R127H	SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R71H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H	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		Somatic	OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H	p.R71H	NM_001282417.1	NP_001269346.1	WXS	Illumina GAIIx	Phase_I	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	10	248	---	---	---	---	A	18863892	G	A	18863892	3	1	163	1	0	0	0	0	1	0	0	0	14662	1087	38	2	398	2	SLC5A10	17	18863892	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	11285337	18863892	62331318	22	7514										
AOC2	314	broad.mit.edu	37	chr17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	cctgtgtcccggacttacccCctttctcttaccacggcttc	6	18	1	0	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		Somatic				AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	p.P750T	NM_009590.2	NP_033720.2	WXS	Illumina GAIIx	Phase_I	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	5	255	---	---	---	---	A	41002342	C	A	41002342	3	1	163	1	0	0	0	0	1	0	0	0	727	623	22	1	2262	1	AOC2	17	41002342	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	22138450	41002342	40192868	23	7515										
FASN	2194	broad.mit.edu	37	chr17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	ccaggctgggcctacctgcaGcagggcgtggggcgcgatct	17	13	1	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.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		Somatic					p.L767M	NM_004104.4	NP_004095.4	WXS	Illumina GAIIx	Phase_I	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	7	9	---	---	---	---	T	80046850	G	T	80046850	3	4	163	1	0	0	0	0	1	0	0	0	5683	962	34	3	5356	3	FASN	17	80046850	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	39044508	80046850	1148360	24	7516										
ROCK1	6093	broad.mit.edu	37	chr18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tatagaatcgtgcccattttTcaggcacatcatagttgctc	7	10	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.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																																						ENST00000399799.2																			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		Somatic					p.E172G	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			5	1455	-	Melanoma(1;0.165)					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	8	5	---	---	---	---	C	18625328	T	C	18625328	3	2	163	1	0	0	0	0	1	0	0	0	13517	1783	62	2	3665	2	ROCK1	18	18625328	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08		18625328	59451920	25	7517										
PSG4	5672	broad.mit.edu	37	chr19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	atggtagaggtatgtcatttGccctttgtaccaaatgtagc	10	7	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.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_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		Somatic				PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	p.Q71K	NM_002780.3	NP_002771.2	WXS	Illumina GAIIx	Phase_I	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	73	144	---	---	---	---	T	43708257	G	T	43708257	3	4	163	1	0	0	0	0	1	0	0	0	12657	1328	46	3	1068	3	PSG4	19	43708257	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		43708257	15420726	26	7518										
DIP2A	23181	broad.mit.edu	37	chr21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	tggctgacgtgctgcagtggCgtgcccacaccactcctgac	12	15	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.chr21:47971767C>T	ENST00000417564.2	+	25	3001	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|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		Somatic				DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	p.R995C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina GAIIx	Phase_I	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	5	25	---	---	---	---	T	47971767	C	T	47971767	3	4	163	1	0	0	0	0	1	0	0	0	4527	768	27	2	3160	2	DIP2A	21	47971767	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		47971767	158128	27	7519										
DCAF8L2	347442	broad.mit.edu	37	chrX	27766321	27766321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.16071428571429	4.0625	0.677083333333333	1	1	0	acagccacgatggcacagagCtgctagccagctacaatgat	10	12	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: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		Somatic					p.L437M	NM_001136533.1	NP_001130005.1	WXS	Illumina GAIIx	Phase_I					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	3	42	---	---	---	---	A	27766321	C	A	27766321	3	1	163	1	0	0	0	0	1	0	0	0	4278	796	28	3	1311	3	DCAF8L2	23	27766321	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		27766321	127504239	28	7520										
SGIP1	84251	broad.mit.edu	37	chr1	67147853	67147853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cctcctcgcaatgtactatcGccgctcaatttagaagaagt	7	12	1	2	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			Somatic				SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	p.S372S	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	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	4	147	---	---	---	---	A	67147853	G	A	67147853	2	1	164	1	0	0	0	0	0	0	0	1	14206	1074	38	2		2	SGIP1	1	67147853	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		67147853	182102768	1	7521										
NTNG1	22854	broad.mit.edu	37	chr1	108023234	108023234	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cttccccctcattctgcagcGaatgtctgcgacaacgagct	8	15	3	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.chr1:108023234G>A	ENST00000370068.1	+	8	2238	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370067.1_Splice_Site_p.A385A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370066.1_Splice_Site_p.A405A			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.(1153-1155)gcG>gcA		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			Somatic				NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370068.1_Splice_Site_p.P464P|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T	p.A385A			WXS	Illumina GAIIx	Phase_I	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.1155G>A	CCDS44180.1																																																																																				0.572	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Silent	10	34	10	34	---	---	---	---	A	108023234	G	A	108023234	5	1	164	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	2	7522										
KIAA1804	84451	broad.mit.edu	37	chr1	233518097	233518097	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	ggagcctctgcactgccactCtgcccctcacctgctcctca	7	20	4	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	84451							g.chr1:233518097C>G																												ENST00000366624.3:c.2751C>G	1.37:g.233518097C>G			Somatic				MLK4_ENST00000366622.1_Silent_p.L363L	p.L917L	NM_032435.2	NP_115811.2	WXS	Illumina GAIIx	Phase_I					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	3	113	---	---	---	---	G	233518097	C	G	233518097	2	3	164	1	0	0	0	0	0	0	0	1	8259	900	32	4		4	KIAA1804	1	233518097	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08	125494863	233518097	15732524	3	7523										
EFHD1	80303	broad.mit.edu	37	chr2	233546303	233546303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	atttctctgcaggtccaagcCttgtcatcggccagtaagtt	9	11	2	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.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000409708.1_Silent_p.A86A|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			Somatic				EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A	p.A198A	NM_025202.3	NP_079478.1	WXS	Illumina GAIIx	Phase_I	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	79	130	---	---	---	---	T	233546303	C	T	233546303	2	4	164	1	0	0	0	0	0	0	0	1	4948	668	24	2		2	EFHD1	2	233546303	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08		233546303	9653070	4	7524										
TRIM42	287015	broad.mit.edu	37	chr3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tcgaggacggcatccagaccAcctacaggcctgacccacag	10	16	0	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.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		Somatic					p.T460A	NM_152616.4	NP_689829.3	WXS	Illumina GAIIx	Phase_I	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	6	52	---	---	---	---	G	140406902	A	G	140406902	3	3	164	1	0	0	0	0	1	0	0	0	16514	159	6	2	1388	2	TRIM42	3	140406902	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		140406902	57615528	5	7525										
DLG1	1739	broad.mit.edu	37	chr3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tgggcggctgctccccctgtGataattttggtaatgaaaat	11	8	0	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.chr3:196867046G>C	ENST00000419354.1	-	9	1063	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000346964.2_Missense_Mutation_p.I259M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_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		Somatic				DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	p.I259M	NM_004087.2	NP_004078.2	WXS	Illumina GAIIx	Phase_I	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	3	148	---	---	---	---	C	196867046	G	C	196867046	3	2	164	1	0	0	0	0	1	0	0	0	4554	1280	45	4	2113	4	DLG1	3	196867046	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	56460144	196867046	1155384	6	7526										
TNPO1	3842	broad.mit.edu	37	chr5	72195834	72195834	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cgtgattgcgttaccttagcAataacaattggtcgtcttgg	10	8	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.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2340A>G	c.(2338-2340)gcA>gcG	p.A780A	TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A|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.(2338-2340)gcA>gcG		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			Somatic				TNPO1_ENST00000454282.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A	p.A780A	NM_002270.3	NP_002261.3	WXS	Illumina GAIIx	Phase_I	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.2340A>G	CCDS43329.1																																																																																				0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Silent	41	69	41	69	---	---	---	---	G	72195834	A	G	72195834	5	3	164	1	0	0	0	0	0	0	1	0	16332	144	5	2	2422	2	TNPO1	5	72195834	Splice_Site	SNP	A	TCGA-HC-7230-01A-11D-2114-08		72195834	108719426	7	7527										
DCP2	167227	broad.mit.edu	37	chr5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	ggggaaatggcagaaaacagTatcaagattcacctaatcaa	9	7	3	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.chr5:112343668T>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		Somatic				DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	p.Y326H	NM_152624.5	NP_689837	WXS	Illumina GAIIx	Phase_I	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	28	41	---	---	---	---	C	112343668	T	C	112343668	3	2	164	1	0	0	0	0	1	0	0	0	4300	1638	57	2	1010	2	DCP2	5	112343668	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	40147834	112343668	68571592	8	7528										
PCDHB13	56123	broad.mit.edu	37	chr5	140595972	140595972	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	gtgtgtctggcaggaggctcAgggaccaatgagttcaagtt	15	7	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.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	56123				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			Somatic					p.S759S	NM_018933.2	NP_061756.1	WXS	Illumina GAIIx	Phase_I	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	3	127	---	---	---	---	G	140595972	A	G	140595972	2	3	164	1	0	0	0	0	0	0	0	1	11538	175	7	2		2	PCDHB13	5	140595972	Silent	SNP	A	TCGA-HC-7230-01A-11D-2114-08	28252304	140595972	40319288	9	7529										
LGSN	51557	broad.mit.edu	37	chr6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tctagaagagagttgaggtgGggtcaaaatttgactgctgt	14	4	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.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		Somatic				LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	T	63995626	G	T	63995626	3	4	164	1	0	0	0	0	1	0	0	0	8759	1232	43	1	1341	1	LGSN	6	63995626	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		63995626	107119441	10	7530										
ANKIB1	54467	broad.mit.edu	37	chr7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cttactatagacagacctagAaatggtcactgaagaccttg	8	9	1	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		Somatic					p.E688G	NM_019004.1	NP_061877.1	WXS	Illumina GAIIx	Phase_I	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	14	87	---	---	---	---	G	92020490	A	G	92020490	3	3	164	1	0	0	0	0	1	0	0	0	630	246	9	2	2121	2	ANKIB1	7	92020490	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		92020490	67118173	11	7531										
MMP16	4325	broad.mit.edu	37	chr8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cctgaggagattcagggatcCctttccagactgtgattggc	12	10	1	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.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		Somatic					p.G482E	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	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	7	75	---	---	---	---	T	89058941	C	T	89058941	3	4	164	1	0	0	0	0	1	0	0	0	9655	623	22	2	386	2	MMP16	8	89058941	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		89058941	57305081	12	7532										
PTEN	5728	broad.mit.edu	37	chr10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tgtgaagatcttgaccaatgGctaagtgaagatgacaatca	10	6	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.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)	Somatic					p.W111*	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	19	86	---	---	---	---	A	89692849	G	A	89692849	4	1	164	1	0	0	0	0	0	1	0	0	12738	1212	42	2	351	2	PTEN	10	89692849	Nonsense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		89692849	45841898	13	7533										
OR5L2	26338	broad.mit.edu	37	chr11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cttcctgctgttccttctcaTctatggagtcacgttgttag	8	11	3	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.chr11:55594795T>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)	Somatic					p.I34T	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	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	37	291	---	---	---	---	C	55594795	T	C	55594795	3	2	164	1	0	0	0	0	1	0	0	0	11171	1435	50	2	103	2	OR5L2	11	55594795	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08		55594795	79411721	14	7534										
RELA	5970	broad.mit.edu	37	chr11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	cacagcaatgcgtcgaggtgGaggccgggggtcggtgggtc	20	9	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.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		Somatic				RELA_ENST00000406246.3_Missense_Mutation_p.P327S|RELA_ENST00000308639.9_Missense_Mutation_p.P324S	p.P327S			WXS	Illumina GAIIx	Phase_I	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	27	34	---	---	---	---	A	65423213	G	A	65423213	3	1	164	1	0	0	0	0	1	0	0	0	13216	1174	41	2	684	2	RELA	11	65423213	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	9828418	65423213	69583303	15	7535										
SCN3B	55800	broad.mit.edu	37	chr11	123516294	123516294	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	agagtcagcagtctaacataCaaggaaatctttaccgccct	7	11	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.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			Somatic				SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site		NM_018400.3	NP_060870.1	WXS	Illumina GAIIx	Phase_I	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	48	89	---	---	---	---	T	123516294	C	T	123516294	5	4	164	1	0	0	0	0	0	0	1	0	13919	492	17	2	443	2	SCN3B	11	123516294	Splice_Site	SNP	C	TCGA-HC-7230-01A-11D-2114-08	58093081	123516294	11490222	16	7536										
CAPNS1	826	broad.mit.edu	37	chr19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	aggcaagctgggctttgaggAattcaagtacttgtggaaca	13	6	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.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|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		Somatic				CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A	p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	WXS	Illumina GAIIx	Phase_I	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	38	69	---	---	---	---	C	36636739	A	C	36636739	3	2	164	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	17	7537										
NUMBL	9253	broad.mit.edu	37	chr19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	gggcacggagggctcaccccAggcagaagtccctggagaga	16	12	1	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.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_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		Somatic				NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	p.W391R	NM_004756.3	NP_004747.1	WXS	Illumina GAIIx	Phase_I	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	2	12	---	---	---	---	G	41174032	A	G	41174032	3	3	164	1	0	0	0	0	1	0	0	0	10752	188	7	2	662	2	NUMBL	19	41174032	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	4537293	41174032	17954951	18	7538										
FPR2	2358	broad.mit.edu	37	chr19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tgggcaccgtctggctcaaaGagatgttgttctatggcaag	13	8	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.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000598953.1_Missense_Mutation_p.E270K|FPR2_ENST00000340023.6_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		Somatic				FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	p.E270K	NM_001462.3	NP_001453.1	WXS	Illumina GAIIx	Phase_I	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	20	32	---	---	---	---	A	52272719	G	A	52272719	3	1	164	1	0	0	0	0	1	0	0	0	6039	943	33	2	810	2	FPR2	19	52272719	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	11098687	52272719	6856264	19	7539										
SLC37A1	54020	broad.mit.edu	37	chr21	43967227	43967227	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	tttcagatccgaacgacgtcAggtgctcctccaccctggtg	10	14	2	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			Somatic				SLC37A1_ENST00000398341.3_Silent_p.R249R	p.R249R			WXS	Illumina GAIIx	Phase_I	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	27	118	---	---	---	---	C	43967227	A	C	43967227	2	2	164	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		43967227	4162668	20	7540										
PHKA1	5255	broad.mit.edu	37	chrX	71840634	71840634	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	ttaagtcgcaggttgtttgcAcagcagcttggaaccgatct	11	9	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.chrX:71840634A>T	ENST00000373542.4	-	19	2237	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000339490.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_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		Somatic				PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E	p.V693E	NM_001122670.1	NP_001116142.1	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	T	71840634	A	T	71840634	3	4	164	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		71840634	83429926	21	7541										
GPR50	9248	broad.mit.edu	37	chrX	150348881	150348881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.84	6.13333333333333	0.766666666666667	1	1	0	gcaagatccccaactggcttTatcttgcagcctacttcata	6	13	2	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.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	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		Somatic					p.Y276H	NM_004224.3	NP_004215.2	WXS	Illumina GAIIx	Phase_I	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	4	83	---	---	---	---	C	150348881	T	C	150348881	3	2	164	1	0	0	0	0	1	0	0	0	6697	1754	61	2	832	2	GPR50	23	150348881	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	78508247	150348881	4921679	22	7542										
CASZ1	54897	broad.mit.edu	37	chr1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-													0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	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)cacfs		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		Somatic				RP4-734G22.3_ENST00000606802.1_RNA	p.H1183fs	NM_001079843.2	NP_001073312.1	WXS	Illumina GAIIx	Phase_I	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	165	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	7543										
SETDB1	9869	broad.mit.edu	37	chr1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A													0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	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_ENST00000368969.4_Frame_Shift_Ins_p.P575fs|SETDB1_ENST00000459773.1_Intron	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.(1720-1725)ttacctfs		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		Somatic				SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P575fs|SETDB1_ENST00000459773.1_Intron	p.P575fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	WXS	Illumina GAIIx	Phase_I	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)		575					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	165	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	140216740	150923074	98327547	2	7544										
RNF181	51255	broad.mit.edu	37	chr2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tggcgtcctatttcgatgaaCacgactgcgagccgtcggac	12	12	0	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.chr2:85822908C>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		Somatic				RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y	p.H8Y			WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	T	85822908	C	T	85822908	3	4	165	1	0	0	0	0	1	0	0	0	13465	478	17	2	24	2	RNF181	2	85822908	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		85822908	157376465	3	7545										
CHL1	10752	broad.mit.edu	37	chr3	432831	432831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tgagccttatatatttcaaaCaccagaaggaggtgagagga	11	6	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	60	---	---	---	---	T	432831	C	T	432831	3	4	165	1	0	0	0	0	1	0	0	0	3349	478	17	2	2858	2	CHL1	3	432831	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		432831	197589599	4	7546										
C3orf62	375341	broad.mit.edu	37	chr3	49313859	49313859	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	aaccatcaaaattagaatcaCcttaaattttcttttctcca	1	10	4	1	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			Somatic						NM_198562.2	NP_940964.1	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	A	49313859	C	A	49313859	5	1	165	1	0	0	0	0	0	0	1	0	2238	521	18	3	368	3	C3orf62	3	49313859	Splice_Site	SNP	C	TCGA-HC-7231-01A-11D-2114-08	48881028	49313859	148708571	5	7547										
VGLL3	389136	broad.mit.edu	37	chr3	87018023	87018023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	acgtcatgcatatggctgtaGgatgggctcacctgagatgt	13	8	2	1	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			Somatic				VGLL3_ENST00000383698.3_Silent_p.S218S	p.S218S	NM_016206.2	NP_057290.2	WXS	Illumina GAIIx	Phase_I	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	34	95	---	---	---	---	A	87018023	G	A	87018023	2	1	165	1	0	0	0	0	0	0	0	1	17157	987	35	2		2	VGLL3	3	87018023	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	37704164	87018023	111004407	6	7548										
ZBTB11	27107	broad.mit.edu	37	chr3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tgccccttcattaacagaacGttgtcgaagcctgcttctat	7	12	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.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		Somatic					p.R510C	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	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	9	119	---	---	---	---	A	101383903	G	A	101383903	3	1	165	1	0	0	0	0	1	0	0	0	17521	1145	40	2	1665	2	ZBTB11	3	101383903	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	14365880	101383903	96638527	7	7549										
IQCB1	9657	broad.mit.edu	37	chr3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	aactcggcgtgcatcagtgaGttcttggagtcctcgccaag	12	11	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.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		Somatic				IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	p.L450V	NM_001023570.2	NP_001018864.2	WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	C	121500652	G	C	121500652	3	2	165	1	0	0	0	0	1	0	0	0	7803	1029	36	4	460	4	IQCB1	3	121500652	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	20116749	121500652	76521778	8	7550										
WDR49	151790	broad.mit.edu	37	chr3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	atccttggagaagctgaaaaGttgttttctttccacaaaga	8	7	1	3	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_ENST00000453925.2_Missense_Mutation_p.L130I|WDR49_ENST00000479765.1_Missense_Mutation_p.L418I	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		Somatic				WDR49_ENST00000479765.1_Missense_Mutation_p.L418I|WDR49_ENST00000453925.2_Missense_Mutation_p.L130I	p.L77I	NM_178824.3	NP_849146.1	WXS	Illumina GAIIx	Phase_I	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	26	83	---	---	---	---	T	167319938	G	T	167319938	3	4	165	1	0	0	0	0	1	0	0	0	17299	1029	36	3	1916	3	WDR49	3	167319938	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	45819286	167319938	30702492	9	7551										
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	9	8	4	4	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)	Somatic					p.Q546K	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	4	62	---	---	---	---	A	178936094	C	A	178936094	3	1	165	1	0	0	0	0	1	0	0	0	11913	711	25	3	1670	3	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	11616156	178936094	19086336	10	7552										
GRM4	2914	broad.mit.edu	37	chr6	34003799	34003799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	gtgatggccagctgtgaggcGgggctgatgaagcgtggggc	21	7	0	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.chr6:34003799G>A	ENST00000538487.2	-	9	2531	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P|GRM4_ENST00000374181.4_Silent_p.P696P	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																																						ENST00000538487.2																			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			Somatic				GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.P696P|GRM4_ENST00000609222.1_Silent_p.P563P|GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000544773.2_Silent_p.P527P	p.P696P	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			9	2531	-								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	6	133	---	---	---	---	A	34003799	G	A	34003799	2	1	165	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	11	7553										
SIM1	6492	broad.mit.edu	37	chr6	100841376	100841376	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ctcttaccatggatcctgtgGactgaagcgatgtgaggcat	12	9	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.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			Somatic				SIM1_ENST00000262901.4_Silent_p.V519V	p.V519V			WXS	Illumina GAIIx	Phase_I	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	10	94	---	---	---	---	T	100841376	G	T	100841376	2	4	165	1	0	0	0	0	0	0	0	1	14323	1161	41	3		3	SIM1	6	100841376	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	66837577	100841376	70273691	12	7554										
NPVF	64111	broad.mit.edu	37	chr7	25264785	25264785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	atcatctattttcttgaataGcagtctcctaaaatgtaagc	5	8	4	1	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			Somatic					p.L183L	NM_022150.3	NP_071433	WXS	Illumina GAIIx	Phase_I	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	14	46	---	---	---	---	A	25264785	G	A	25264785	2	1	165	1	0	0	0	0	0	0	0	1	10605	962	34	2		2	NPVF	7	25264785	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		25264785	133873878	13	7555										
MYST4	23522	broad.mit.edu	37	chr10	76788961	76788961	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ggaaaaccaggagactttttTagaccttaatgtgcagcctg	10	8	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.chr10:76788961T>G	ENST00000287239.4	+	18	4868	c.4379T>G	c.(4378-4380)tTa>tGa	p.L1460*	KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372714.1_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*		Somatic				KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L1168*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L1277*	p.L1460*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	G	76788961	T	G	76788961	4	3	165	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	14	7556										
DMBT1	1755	broad.mit.edu	37	chr10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tatcccgggaactatccaaaCaatgccaagtgtgtgtggga	11	9	0	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.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_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K			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		Somatic				DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000368909.3_Missense_Mutation_p.N2030K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K	p.N2030K			WXS	Illumina GAIIx	Phase_I	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	6	113	---	---	---	---	A	124392786	C	A	124392786	3	1	165	1	0	0	0	0	1	0	0	0	4577	477	17	3	6284	3	DMBT1	10	124392786	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	47603825	124392786	11141961	15	7557										
STX3	6809	broad.mit.edu	37	chr11	59559664	59559664	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tccgagaacgcagcaaagggCgaatccagcggcagctcgaa	13	12	0	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.chr11:59559664C>A	ENST00000337979.4	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000535361.1_Silent_p.R148R|STX3_ENST00000437946.2_Silent_p.R51R|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			Somatic				STX3_ENST00000337979.4_Silent_p.R148R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000529177.1_Silent_p.R148R	p.R148R			WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	A	59559664	C	A	59559664	2	1	165	1	0	0	0	0	0	0	0	1	15345	760	27	3		3	STX3	11	59559664	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08		59559664	75446852	16	7558										
P4HA3	283208	broad.mit.edu	37	chr11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tcctccagtcagactgcaggCgtttgatgagagtaaatgca	11	9	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.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		Somatic				P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	p.R95L	NM_182904.3	NP_878907.1	WXS	Illumina GAIIx	Phase_I	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	7	196	---	---	---	---	A	74015374	C	A	74015374	3	1	165	1	0	0	0	0	1	0	0	0	11358	768	27	3	1398	3	P4HA3	11	74015374	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	14455710	74015374	60991142	17	7559										
LRRC32	2615	broad.mit.edu	37	chr11	76371902	76371902	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tcccgcaggtcaagccaggtGagctggaactcagcctgggg	15	12	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.chr11:76371902G>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			Somatic				LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L245L|AP001189.4_ENST00000447519.1_RNA	p.L245L	NM_005512.2	NP_005503.1	WXS	Illumina GAIIx	Phase_I	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	34	49	---	---	---	---	A	76371902	G	A	76371902	2	1	165	1	0	0	0	0	0	0	0	1	8987	1277	45	2		2	LRRC32	11	76371902	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	2356528	76371902	58634614	18	7560										
GRM5	2915	broad.mit.edu	37	chr11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ctgctgagcatctgaaggcaCaaccctcatgaaatatttga	8	10	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.chr11:88780467C>A	ENST00000305447.4	-	1	723	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000418177.2_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_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		Somatic				GRM5_ENST00000455756.2_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L|GRM5_ENST00000305432.5_Missense_Mutation_p.V192L	p.V192L			WXS	Illumina GAIIx	Phase_I	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	12	93	---	---	---	---	A	88780467	C	A	88780467	3	1	165	1	0	0	0	0	1	0	0	0	6800	478	17	3	3100	3	GRM5	11	88780467	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	12408565	88780467	46226049	19	7561										
HSPA8	3312	broad.mit.edu	37	chr11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	cttatcaagccagttgataaTttcattacacttgtccagaa	5	9	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.chr11:122928986T>C	ENST00000532636.1	-	8	1848	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000534624.1_Missense_Mutation_p.I577V|SNORD14D_ENST00000384390.1_RNA|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|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		Somatic				HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V	p.I577V	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	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	24	50	---	---	---	---	C	122928986	T	C	122928986	3	2	165	1	0	0	0	0	1	0	0	0	7416	1493	52	2	219	2	HSPA8	11	122928986	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	34148519	122928986	12077530	20	7562										
DDN	23109	broad.mit.edu	37	chr12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tgtagctttggcttggggatGgctgtcgctaccactgttca	13	9	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.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_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		Somatic					p.H332Y	NM_015086.1	NP_055901.2	WXS	Illumina GAIIx	Phase_I	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	33	118	---	---	---	---	A	49391665	G	A	49391665	3	1	165	1	0	0	0	0	1	0	0	0	4333	1348	47	2	1145	2	DDN	12	49391665	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		49391665	84460230	21	7563										
FBXW8	26259	broad.mit.edu	37	chr12	117465848	117465848	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tctagacaccgggggctgatCcgcgcctatgagtttgcggt	14	11	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.chr12:117465848C>A	ENST00000309909.5	+	11	1750	c.1668C>A	c.(1666-1668)atC>atA	p.I556I	FBXW8_ENST00000455858.2_Silent_p.I490I			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	556					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)		GGGGGCTGATCCGCGCCTATG	0.622																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1468-1470)atC>atA		F-box and WD repeat domain containing 8							97	74	82					12																	117465848		2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117465848C>A	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.1668C>A	12.37:g.117465848C>A			Somatic				FBXW8_ENST00000309909.5_Silent_p.I556I	p.I490I	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	WXS	Illumina GAIIx	Phase_I	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1543	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		556					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.1470C>A	CCDS9182.1																																																																																				0.622	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		3	55	3	55	---	---	---	---	A	117465848	C	A	117465848	2	1	165	1	0	0	0	0	0	0	0	1	5770	845	30	3		3	FBXW8	12	117465848	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	68074183	117465848	16386047	22	7564										
CPPED1	55313	broad.mit.edu	37	chr16	12798661	12798662	+	Nonsense_Mutation	DNP	GC	GC	AA													0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	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.chr16:12798661_12798662GC>AA	ENST00000381774.4	-	3	774_775	c.534_535GC>TT	c.(532-537)aaGCag>aaTTag	p.178_179KQ>N*	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						TCCTGAGCCTGCTTCAGGCTGG	0.614																																						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|c.(532-534)aaG>aaT		calcineurin-like phosphoesterase domain containing 1																																				SO:0001587	stop_gained	55313						hydrolase activity|metal ion binding	g.chr16:12798661G>A|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.534_535delinsAA	16.37:g.12798661_12798662delinsAA	ENSP00000371193:p.K178_Q179delinsN*		Somatic				CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	p.Q179*|p.K178N	NM_018340.2	NP_060810.2	WXS	Illumina GAIIx	Phase_I	Q9BRF8	CPPED_HUMAN			3	775|774	-			179|178					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000381774.4	37	c.535C>T|c.534G>T	CCDS42120.1																																																																																				0.614	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		21|20	55	20	55	---	---	---	---	AA	12798662	GC	AA	12798661	4	1	165	1	0	0	0	0	0	1	0	0	3822	1328	46	2	417	2	CPPED1	16	12798661	Nonsense_Mutation	DNP	GC	TCGA-HC-7231-01A-11D-2114-08		12798661	77556092	23	7565										
SULT1A1	6817	broad.mit.edu	37	chr16	28631396	28631396	+	5'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tgtcttaccatataggtgttCcagaatttctgtttcaggtc	8	8	3	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.chr16:28631396C>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			Somatic				SULT1A1_ENST00000395609.1_5'UTR	p.W42*	NM_177536.3	NP_803880.1	WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	T	28631396	C	T	28631396	1	4	165	0	1	0	0	0	0	0	0	0	15371	856	30	2		2	SULT1A1	16	28631396	5'UTR	SNP	C	TCGA-HC-7231-01A-11D-2114-08	15832735	28631396	61723357	24	7566										
FOXC2	2303	broad.mit.edu	37	chr16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	caatgccagctgccagctgcCctacagatccacgccgcctc	8	19	0	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		Somatic					p.P480R	NM_005251.2	NP_005242.1	WXS	Illumina GAIIx	Phase_I	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	3	82	---	---	---	---	G	86602380	C	G	86602380	3	3	165	1	0	0	0	0	1	0	0	0	5995	623	22	4	1441	4	FOXC2	16	86602380	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	57970984	86602380	3752373	25	7567										
MYH8	4626	broad.mit.edu	37	chr17	10296220	10296220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tcggcctcatctagacgatgCtgcaggtccttcaccgtctg	10	14	4	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.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	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	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			Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.Q1797Q	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	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	8	131	---	---	---	---	T	10296220	C	T	10296220	2	4	165	1	0	0	0	0	0	0	0	1	10041	796	28	2		2	MYH8	17	10296220	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08		10296220	70898990	26	7568										
MYH4	4622	broad.mit.edu	37	chr17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tcttctttggttttctcaaaTtcttccttcatgttggccat	5	10	5	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.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	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	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		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.E859D	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	4	102	---	---	---	---	G	10357986	T	G	10357986	3	3	165	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	27	7569										
UNC45B	146862	broad.mit.edu	37	chr17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	gctcaaacagatctacaagaCcaccaaaaatgagaagatca	6	10	3	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.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000378449.1_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		Somatic				UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N|UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N	p.T472N	NM_173167.2	NP_775259.1	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	A	33495343	C	A	33495343	3	1	165	1	0	0	0	0	1	0	0	0	16986	507	18	3	1449	3	UNC45B	17	33495343	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	23137357	33495343	47699867	28	7570										
HLF	3131	broad.mit.edu	37	chr17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	tgggttatgagccagacccaGcagatcttgccctttccagc	10	13	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_ENST00000430986.2_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000575345.1_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		Somatic				HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P	p.A180P	NM_002126.4	NP_002117.1	WXS	Illumina GAIIx	Phase_I	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	27	78	---	---	---	---	C	53392674	G	C	53392674	3	2	165	1	0	0	0	0	1	0	0	0	7214	971	34	4	548	4	HLF	17	53392674	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	19897331	53392674	27802536	29	7571										
IRF2BP1	26145	broad.mit.edu	37	chr19	46388640	46388640	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ttggccaggcgggaccccagAgtgtactccagggcgggcga	17	12	0	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.chr19:46388640A>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			Somatic					p.T131T	NM_015649.1	NP_056464.1	WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	G	46388640	A	G	46388640	2	3	165	1	0	0	0	0	0	0	0	1	7829	291	11	2		2	IRF2BP1	19	46388640	Silent	SNP	A	TCGA-HC-7231-01A-11D-2114-08		46388640	12740343	30	7572										
MOSPD2	158747	broad.mit.edu	37	chrX	14932667	14932667	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	ggaagtacagaatccggagaGaagaaaaccttaatagtgtt	11	5	0	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.chrX:14932667G>T	ENST00000380492.3	+	11	1123	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	MOSPD2_ENST00000482354.1_Missense_Mutation_p.E345D|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	345	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AATCCGGAGAGAAGAAAACCT	0.299																																						ENST00000380492.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1033-1035)gaG>gaT		motile sperm domain containing 2							55	54	54					X																	14932667		2203	4290	6493	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14932667G>T	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1035G>T	X.37:g.14932667G>T	ENSP00000369860:p.Glu345Asp		Somatic				MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E345D	p.E345D	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	WXS	Illumina GAIIx	Phase_I	Q8NHP6	MSPD2_HUMAN			11	1123	+	Hepatocellular(33;0.183)		345			MSP.		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.1035G>T	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034335	0.75617	.	.	ENSG00000130150	ENST00000380492	T	0.73047	-0.71	5.52	4.66	0.58398	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	L	0.51853	1.615	0.58432	D	0.999999	D	0.58970	0.984	D	0.76575	0.988	T	0.78262	-0.2272	10	0.44086	T	0.13	.	12.8407	0.57800	0.0825:0.0:0.9175:0.0	.	345	Q8NHP6	MSPD2_HUMAN	D	345	ENSP00000369860:E345D	ENSP00000369860:E345D	E	+	3	2	MOSPD2	14842588	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.067000	0.30616	1.221000	0.43506	0.506000	0.49869	GAG		0.299	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		3	40	3	40	---	---	---	---	T	14932667	G	T	14932667	3	4	165	1	0	0	0	0	1	0	0	0	9716	933	33	3	1077	3	MOSPD2	23	14932667	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		14932667	140337893	31	7573										
PHF8	23133	broad.mit.edu	37	chrX	54029074	54029074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	1	1	0.456099456099456	0	0.592929292929293	1	1	0	gtgtaagaagttccctccaaAggcaaggcagtccacaggcg	12	11	0	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: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		Somatic				PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000357988.5_Missense_Mutation_p.F366V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V	p.F330V	NM_015107.2	NP_055922.1	WXS	Illumina GAIIx	Phase_I	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	3	26	---	---	---	---	C	54029074	A	C	54029074	3	2	165	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	39096407	54029074	101241486	32	7574										
SPTA1	6708	broad.mit.edu	37	chr1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tttcaaagacttgctgctttTgaaccctgctcttcaagttc	6	11	3	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.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																																						ENST00000368147.4																			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		Somatic					p.Q621L	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			15	2042	-	all_hematologic(112;0.0378)							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	4	189	---	---	---	---	A	158637824	T	A	158637824	3	1	166	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		158637824	90612797	1	7575										
BUB1	699	broad.mit.edu	37	chr2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ttgtgtgcacggtgggtgatGgctgcactttggatggcgtt	17	6	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.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		Somatic				BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	p.P438Q	NM_001278616.1	NP_001265545.1	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	T	111416223	G	T	111416223	3	4	166	1	0	0	0	0	1	0	0	0	1570	1348	47	1	1940	1	BUB1	2	111416223	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		111416223	131783150	2	7576										
RFTN1	23180	broad.mit.edu	37	chr3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tctctgaagaaagacaatctGcttggtggatacactcccct	8	11	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.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_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		Somatic				OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E	p.Q425E	NM_015150.1	NP_055965.1	WXS	Illumina GAIIx	Phase_I	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	14	52	---	---	---	---	C	16364942	G	C	16364942	3	2	166	1	0	0	0	0	1	0	0	0	13258	1328	46	4	471	4	RFTN1	3	16364942	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		16364942	181657488	3	7577										
VIPR1	7433	broad.mit.edu	37	chr3	42567412	42567412	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ccgcagctgcaccgacgaagGctggacgcacctggagcctg	14	15	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.chr3:42567412G>T	ENST00000325123.4	+	4	439	c.326G>T	c.(325-327)gGc>gTc	p.G109V	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.G68V|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000473575.1_3'UTR	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	109					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)		ACCGACGAAGGCTGGACGCAC	0.647																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(202-204)gGc>gTc		vasoactive intestinal peptide receptor 1							80	60	67					3																	42567412		2203	4300	6503	SO:0001583	missense	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.chr3:42567412G>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.326G>T	3.37:g.42567412G>T	ENSP00000327246:p.Gly109Val		Somatic				VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.G109V|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA	p.G68V	NM_001251882.1	NP_001238811.1	WXS	Illumina GAIIx	Phase_I	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	5	827	+			109					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.203G>T	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796347	0.50208	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	4.06	3.18	0.36537	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.96052	0.8714	H	0.95260	3.645	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	0.95521	0.8594	10	0.87932	D	0	.	9.1952	0.37224	0.1054:0.0:0.8946:0.0	.	82;62;109	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	V	68;68;62;109;109	ENSP00000394950:G68V;ENSP00000415013:G68V;ENSP00000445701:G62V;ENSP00000403478:G109V;ENSP00000327246:G109V	ENSP00000327246:G109V	G	+	2	0	VIPR1	42542416	1.000000	0.71417	0.989000	0.46669	0.404000	0.30871	5.073000	0.64395	1.054000	0.40438	0.462000	0.41574	GGC		0.647	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		3	36	3	36	---	---	---	---	T	42567412	G	T	42567412	3	4	166	1	0	0	0	0	1	0	0	0	17166	1203	42	3	340	3	VIPR1	3	42567412	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	26202470	42567412	155455018	4	7578										
ALDH1L1	10840	broad.mit.edu	37	chr3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	gaatcctccgaagggagcggCcacgtcggtcttgttgtacg	14	11	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.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	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		Somatic				ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P	p.A869P	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	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	40	125	---	---	---	---	G	125824617	C	G	125824617	3	3	166	1	0	0	0	0	1	0	0	0	494	739	26	4	111	4	ALDH1L1	3	125824617	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	83257205	125824617	72197813	5	7579										
AHSG	197	broad.mit.edu	37	chr3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ggacccagatgcacctccgtCccctccacttggcgcacctg	9	19	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		Somatic				AHSG_ENST00000273784.5_Missense_Mutation_p.S281F	p.S280F			WXS	Illumina GAIIx	Phase_I	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	43	163	---	---	---	---	T	186338454	C	T	186338454	3	4	166	1	0	0	0	0	1	0	0	0	420	855	30	2	865	2	AHSG	3	186338454	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	60513837	186338454	11683976	6	7580										
CCNG2	901	broad.mit.edu	37	chr4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ttttgcacttataccatactAttatactttgtcatacttca	2	9	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.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_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR	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		Somatic				CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	p.I168V	NM_004354.2	NP_004345.1	WXS	Illumina GAIIx	Phase_I	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	9	48	---	---	---	---	G	78082099	A	G	78082099	3	3	166	1	0	0	0	0	1	0	0	0	2924	449	16	2	512	2	CCNG2	4	78082099	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		78082099	113072177	7	7581										
TRPC7	57113	broad.mit.edu	37	chr5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	gtcgtggggccgctcgatgcGggcgcccttgagcagcagga	18	12	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		Somatic				TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	p.R189C	NM_020389.2	NP_065122.1	WXS	Illumina GAIIx	Phase_I	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	24	94	---	---	---	---	A	135692511	G	A	135692511	3	1	166	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	8	7582										
TRIM10	10107	broad.mit.edu	37	chr6	30121516	30121516	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ggtggtgagcagaactggcaGcagcctgagtccccaggtac	15	11	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.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			Somatic				TRIM10_ENST00000449742.2_3'UTR	p.C379C	NM_052828.2	NP_439893.2	WXS	Illumina GAIIx	Phase_I	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	3	44	---	---	---	---	A	30121516	G	A	30121516	1	1	166	0	1	0	0	0	0	0	0	0	16483	963	34	2		2	TRIM10	6	30121516	3'UTR	SNP	G	TCGA-HC-7232-01A-11D-2114-08		30121516	140993551	9	7583										
C6orf138	442213	broad.mit.edu	37	chr6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ctctctctcctttcgcttggCacgtttctttttcttgtggt	7	12	4	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.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		Somatic					p.A823T	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	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	26	67	---	---	---	---	T	47846113	C	T	47846113	3	4	166	1	0	0	0	0	1	0	0	0	2332	710	25	2	77	2	C6orf138	6	47846113	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	17724597	47846113	123268954	10	7584										
ZCWPW1	55063	broad.mit.edu	37	chr7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	gggctgggcacaagaagtctCtgcaaaatcaaggccagatc	12	10	2	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.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	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		Somatic				ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	p.E130Q	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	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	20	57	---	---	---	---	G	100014780	C	G	100014780	3	3	166	1	0	0	0	0	1	0	0	0	17594	922	32	4	1610	4	ZCWPW1	7	100014780	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		100014780	59123883	11	7585										
FAM190B	54462	broad.mit.edu	37	chr10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ccccaaggaaaatgaaaaagCcttcagtaaaactgatgaat	7	8	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.chr10:86132184C>G	ENST00000224756.8	+	2	1561	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_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		Somatic				CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G	p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	WXS	Illumina GAIIx	Phase_I					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	5	97	---	---	---	---	G	86132184	C	G	86132184	3	3	166	1	0	0	0	0	1	0	0	0	5522	739	26	4	1378	4	FAM190B	10	86132184	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		86132184	49402563	12	7586										
EXT2	2132	broad.mit.edu	37	chr11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	cagaagaaaagatgtcagatGtgtacagtattttgcagagc	11	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.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_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_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		Somatic				EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M	p.V406M	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	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	23	53	---	---	---	---	A	44151632	G	A	44151632	3	1	166	1	0	0	0	0	1	0	0	0	5324	1377	48	2	1242	2	EXT2	11	44151632	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		44151632	90854884	13	7587										
GAB2	9846	broad.mit.edu	37	chr11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tgctgagctcagctggagaaGagcgggggccatgaccggct	17	10	1	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.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	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		Somatic				GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	p.S140F	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	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	28	62	---	---	---	---	A	77961404	G	A	77961404	3	1	166	1	0	0	0	0	1	0	0	0	6149	942	33	2	1643	2	GAB2	11	77961404	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	33809772	77961404	57045112	14	7588										
DDX47	51202	broad.mit.edu	37	chr12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	cccttgcaaaaaaaccacatAtaataataggtgagtaactg	6	8	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.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		Somatic				DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	p.I145V	NM_016355.3	NP_057439.2	WXS	Illumina GAIIx	Phase_I	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	12	42	---	---	---	---	G	12974651	A	G	12974651	3	3	166	1	0	0	0	0	1	0	0	0	4365	449	16	2	447	2	DDX47	12	12974651	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		12974651	120877244	15	7589										
ZIC5	85416	broad.mit.edu	37	chr13	100622586	100622586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tgctcggggcctcccacgtgCtccaccgtgacgtgattcac	11	16	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.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			Somatic					p.E448E	NM_033132.3	NP_149123.2	WXS	Illumina GAIIx	Phase_I	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	16	39	---	---	---	---	T	100622586	C	T	100622586	2	4	166	1	0	0	0	0	0	0	0	1	17679	796	28	2		2	ZIC5	13	100622586	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		100622586	14547292	16	7590										
GZMB	3002	broad.mit.edu	37	chr14	25101106	25101106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tctgggtcccccacgcacaaCtcaatggtactgtcgtaata	8	13	2	0	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_ENST00000382540.1_Silent_p.E141E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Silent_p.E220E|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Silent_p.E174E			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			Somatic				GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Silent_p.E141E	p.E186E			WXS	Illumina GAIIx	Phase_I	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	25	122	---	---	---	---	T	25101106	C	T	25101106	2	4	166	1	0	0	0	0	0	0	0	1	6916	564	20	2		2	GZMB	14	25101106	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		25101106	82248434	17	7591										
ZFP36L1	677	broad.mit.edu	37	chr14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ggatgccgtgtgcgaactggCacttgtccccgtacttacag	12	12	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.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|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	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		Somatic	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.C135F	p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	WXS	Illumina GAIIx	Phase_I	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	36	159	---	---	---	---	A	69256863	C	A	69256863	3	1	166	1	0	0	0	0	1	0	0	0	17643	710	25	3	616	3	ZFP36L1	14	69256863	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	44155757	69256863	38092677	18	7592										
LRRC49	54839	broad.mit.edu	37	chr15	71185232	71185232	+	De_novo_Start_InFrame	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	agaacctggactgtctcctaTcatgattcccgggaaatatc	8	11	2	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.chr15:71185232T>G	ENST00000260382.5	+	0	259				LRRC49_ENST00000560691.1_5'Flank|LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000443425.2_De_novo_Start_OutOfFrame|THAP10_ENST00000249861.4_5'Flank|LRRC49_ENST00000544974.2_Intron	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			Somatic	OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	LRRC49_ENST00000260382.5_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame		NM_001199018.1	NP_001185947.1	WXS	Illumina GAIIx	Phase_I	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	23	101	---	---	---	---	G	71185232	T	G	71185232	1	3	166	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	19	7593										
TTLL6	284076	broad.mit.edu	37	chr17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ttacctgtttggaggcttggGtggcggccttgtctttctgc	14	9	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.chr17:46863542G>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		Somatic				TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	p.T582I	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	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	13	530	---	---	---	---	A	46863542	G	A	46863542	3	1	166	1	0	0	0	0	1	0	0	0	16728	1261	44	2	946	2	TTLL6	17	46863542	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		46863542	34331668	20	7594										
UHRF1	29128	broad.mit.edu	37	chr19	4930834	4930834	+	RNA	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ccgggacgagccctgcagctCcacgtccaggccggcgctgg	15	17	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			Somatic								WXS	Illumina GAIIx	Phase_I	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	29	82	---	---	---	---	G	4930834	C	G	4930834	1	3	166	0	1	0	0	0	0	0	0	0	16964	855	30	4		4	UHRF1	19	4930834	RNA	SNP	C	TCGA-HC-7232-01A-11D-2114-08		4930834	54198149	21	7595										
ZNF473	25888	broad.mit.edu	37	chr19	50548980	50548980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ccatcagagggttcacagtgGagagaagccttacaaatgca	11	9	2	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.chr19:50548980G>T	ENST00000595661.1	+	6	1775	c.1280G>T	c.(1279-1281)gGa>gTa	p.G427V	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	427	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTTCACAGTGGAGAGAAGCCT	0.493																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1279-1281)gGa>gTa		zinc finger protein 473							81	78	79					19																	50548980		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548980G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1280G>T	19.37:g.50548980G>T	ENSP00000472808:p.Gly427Val		Somatic				ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V	p.G427V			WXS	Illumina GAIIx	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1775	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	427			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1280G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666514	0.67814	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.23552	1.9;1.9;1.9	4.18	3.1	0.35709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166691	0.28871	N	0.013866	T	0.51907	0.1702	M	0.84846	2.72	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.59343	-0.7472	10	0.87932	D	0	-5.7386	11.2886	0.49237	0.0:0.0:0.8161:0.1839	.	427	Q8WTR7	ZN473_HUMAN	V	427;427;415	ENSP00000270617:G427V;ENSP00000375697:G427V;ENSP00000388961:G415V	ENSP00000270617:G427V	G	+	2	0	ZNF473	55240792	0.988000	0.35896	0.034000	0.17996	0.961000	0.63080	2.698000	0.47068	1.287000	0.44583	0.563000	0.77884	GGA		0.493	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		5	71	5	71	---	---	---	---	T	50548980	G	T	50548980	3	4	166	1	0	0	0	0	1	0	0	0	17928	1174	41	3	1294	3	ZNF473	19	50548980	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	45618146	50548980	8580003	22	7596										
FPR2	2358	broad.mit.edu	37	chr19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	gccagttttcctctttttgaCtacagtaactattccaaatg	5	10	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.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_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		Somatic				FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_Missense_Mutation_p.T165N	p.T165N	NM_001462.3	NP_001453.1	WXS	Illumina GAIIx	Phase_I	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	3	108	---	---	---	---	A	52272405	C	A	52272405	3	1	166	1	0	0	0	0	1	0	0	0	6039	565	20	3	496	3	FPR2	19	52272405	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	1723425	52272405	6856578	23	7597										
VPS16	64601	broad.mit.edu	37	chr20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	agagaagttttccaagagcaAgaaatcacccattggctacc	8	10	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.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		Somatic				PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	p.K750R	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	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	14	34	---	---	---	---	G	2846119	A	G	2846119	3	3	166	1	0	0	0	0	1	0	0	0	17190	72	3	2	2335	2	VPS16	20	2846119	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		2846119	60179401	24	7598										
SUSD2	56241	broad.mit.edu	37	chr22	24581635	24581635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	actggctcctgcagcctccgGtacggctcaggtcagcagtg	13	14	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.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			Somatic					p.R359R	NM_019601.3	NP_062547.1	WXS	Illumina GAIIx	Phase_I	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	10	24	---	---	---	---	A	24581635	G	A	24581635	2	1	166	1	0	0	0	0	0	0	0	1	15405	1248	44	2		2	SUSD2	22	24581635	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		24581635	26722931	25	7599										
STAG2	10735	broad.mit.edu	37	chrX	123179182	123179182	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ttacaggattgtctgactcaCaagtcagagcatttcgacat	8	9	3	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:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371144.3_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		Somatic				STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E	p.Q211E	NM_001282418.1	NP_001269347.1	WXS	Illumina GAIIx	Phase_I	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	3	142	---	---	---	---	G	123179182	C	G	123179182	3	3	166	1	0	0	0	0	1	0	0	0	15242	479	17	4	653	4	STAG2	23	123179182	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		123179182	32091378	26	7600										
MAGEA6	4105	broad.mit.edu	37	chrX	151869994	151869994	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	tgggaggagctgagtgtgttAgaggtgtttgaggggaggga	22	1	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.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		Somatic					p.L228F	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	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	14	140	---	---	---	---	C	151869994	A	C	151869994	3	2	166	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	27	7601										
F8	2157	broad.mit.edu	37	chrX	154182174	154182174	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	3	1	1.4094427244582	1.33114035087719	1.45215311004785	1	1	0	ctgctttactcactgtgcatGatgttggaggcttggaactc	11	9	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.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			Somatic					p.I632I	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	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	8	142	---	---	---	---	A	154182174	G	A	154182174	2	1	166	1	0	0	0	0	0	0	0	1	5350	1280	45	2		2	F8	23	154182174	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	2312180	154182174	1088386	28	7602										
NBPF1	55672	broad.mit.edu	37	chr1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-													0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	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)gggaagdel		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		Somatic					p.GK1029del	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	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	167	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	7603										
AMPD2	271	broad.mit.edu	37	chr1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	cggaactgcatctcttcttaGagcacgtgagcaggcagcgc	12	12	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	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q	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		Somatic				AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q	p.E619Q	NM_004037.7	NP_004028.3	WXS	Illumina GAIIx	Phase_I	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	3	62	---	---	---	---	C	110171852	G	C	110171852	3	2	167	1	0	0	0	0	1	0	0	0	586	943	33	4	1946	4	AMPD2	1	110171852	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	93280464	110171852	139078769	2	7604										
TP53BP2	7159	broad.mit.edu	37	chr1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ccatggacggaacaactgttGacaactgctgagaacttccg	10	11	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.chr1:223986246G>A	ENST00000343537.7	-	12	1910	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S411L|TP53BP2_ENST00000391879.2_Intron	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		Somatic				TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	p.S411L	NM_005426.2	NP_005417.1	WXS	Illumina GAIIx	Phase_I	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	4	108	---	---	---	---	A	223986246	G	A	223986246	3	1	167	1	0	0	0	0	1	0	0	0	16381	1294	45	2	1813	2	TP53BP2	1	223986246	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	113814394	223986246	25264375	3	7605										
NMS	129521	broad.mit.edu	37	chr2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ggccatctactgcttctgcaTgctacagattccctcctcag	7	15	3	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.chr2:101087006T>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		Somatic					p.M19T	NM_001011717.1	NP_001011717.1	WXS	Illumina GAIIx	Phase_I	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	12	145	---	---	---	---	C	101087006	T	C	101087006	3	2	167	1	0	0	0	0	1	0	0	0	10502	1464	51	2	58	2	NMS	2	101087006	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		101087006	142112367	4	7606										
DNER	92737	broad.mit.edu	37	chr2	230456358	230456358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tttcggctgccaggtaggcaGtgtcaccgttgcctgagagc	14	11	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.chr2:230456358G>T	ENST00000341772.4	-	2	657	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	175					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)		CAGGTAGGCAGTGTCACCGTT	0.502																																						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.(523-525)Ctg>Atg		delta/notch-like EGF repeat containing							86	79	82					2																	230456358		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.chr2:230456358G>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.523C>A	2.37:g.230456358G>T	ENSP00000345229:p.Leu175Met		Somatic					p.L175M	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	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	657	-		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)	175					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.523C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888888	0.33348	.	.	ENSG00000187957	ENST00000341772	D	0.89617	-2.54	5.75	3.0	0.34707	.	0.069618	0.64402	N	0.000013	D	0.89591	0.6759	L	0.27053	0.805	0.46542	D	0.999095	D	0.76494	0.999	D	0.85130	0.997	D	0.86553	0.1836	10	0.31617	T	0.26	.	13.9259	0.63961	0.1925:0.0:0.8075:0.0	.	175	Q8NFT8	DNER_HUMAN	M	175	ENSP00000345229:L175M	ENSP00000345229:L175M	L	-	1	2	DNER	230164602	0.983000	0.35010	0.372000	0.25991	0.102000	0.19082	1.822000	0.39052	0.358000	0.24211	-0.940000	0.02684	CTG		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		3	80	3	80	---	---	---	---	T	230456358	G	T	230456358	3	4	167	1	0	0	0	0	1	0	0	0	4667	1020	36	3	1738	3	DNER	2	230456358	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	129369352	230456358	12743015	5	7607										
GPR128	84873	broad.mit.edu	37	chr3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ttgtacagaagagtggaaagGactgagatgtacaattggta	13	3	0	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.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		Somatic					p.G71V	NM_032787.2	NP_116176.2	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	T	100348538	G	T	100348538	3	4	167	1	0	0	0	0	1	0	0	0	6641	1174	41	3	218	3	GPR128	3	100348538	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		100348538	97673892	6	7608										
LYAR	55646	broad.mit.edu	37	chr4	4281393	4281393	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	aattttgcctttttcctgggAacgttgtcaaaagcactaat	7	8	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.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			Somatic				LYAR_ENST00000452476.1_Silent_p.V107V	p.V107V	NM_017816.2	NP_060286	WXS	Illumina GAIIx	Phase_I	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	11	45	---	---	---	---	T	4281393	A	T	4281393	2	4	167	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	7	7609										
WFS1	7466	broad.mit.edu	37	chr4	6302431	6302431	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	atggagatcaaggagtacctGattgacatggcctccagggc	13	9	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.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			Somatic				WFS1_ENST00000503569.1_Silent_p.L303L	p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	WXS	Illumina GAIIx	Phase_I	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	23	48	---	---	---	---	A	6302431	G	A	6302431	2	1	167	1	0	0	0	0	0	0	0	1	17357	1277	45	2		2	WFS1	4	6302431	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	2021038	6302431	184851845	8	7610										
NDST4	64579	broad.mit.edu	37	chr4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tattccacacagtatttttcTaaaagctctcgattccatga	4	10	2	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.chr4:115997743T>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		Somatic					p.L150F	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	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	5	74	---	---	---	---	G	115997743	T	G	115997743	3	3	167	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	109695312	115997743	75156533	9	7611										
PCDH18	54510	broad.mit.edu	37	chr4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	cactgtctcctgcctcactgTcaccacggccactgtctttc	6	18	4	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.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|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		Somatic				PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V	p.D877V	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	79	288	---	---	---	---	A	138449742	T	A	138449742	3	1	167	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	10	7612										
ERAP2	64167	broad.mit.edu	37	chr5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gtattttaagccagtgattgAcaggcaaagctggagtgaca	12	6	0	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.chr5:96245318A>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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	82	---	---	---	---	T	96245318	A	T	96245318	3	4	167	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	11	7613										
TRIM36	55521	broad.mit.edu	37	chr5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	aaaaacctaccttggactaaCtgcatcccggggagaacgga	10	11	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.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		Somatic				TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I	p.V596I			WXS	Illumina GAIIx	Phase_I	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	22	81	---	---	---	---	T	114466299	C	T	114466299	3	4	167	1	0	0	0	0	1	0	0	0	16507	565	20	2	372	2	TRIM36	5	114466299	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	18220981	114466299	66448961	12	7614										
CSNK1G3	1456	broad.mit.edu	37	chr5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	catatcttcgttatgtaagaAggctagatttttttgaaaaa	7	4	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.chr5:122926136A>G	ENST00000361991.2	+	8	904	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000360683.2_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		Somatic				CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G	p.R292G			WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	G	122926136	A	G	122926136	3	3	167	1	0	0	0	0	1	0	0	0	3956	63	3	2	904	2	CSNK1G3	5	122926136	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	8459837	122926136	57989124	13	7615										
PAIP2	51247	broad.mit.edu	37	chr5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	agaggaagaagagcatgaatGgtttattccagctcgagatc	12	6	0	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.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|CTB-43P18.1_ENST00000503553.3_RNA|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		Somatic				PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L	p.W73L			WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	T	138700332	G	T	138700332	3	4	167	1	0	0	0	0	1	0	0	0	11397	1357	47	1	224	1	PAIP2	5	138700332	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	15774196	138700332	42214928	14	7616										
PCDHB2	56133	broad.mit.edu	37	chr5	140475283	140475283	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	agtgcaaaatcgggagaactGcttttaagacagaaactgga	11	6	0	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.chr5:140475283G>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	56133				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			Somatic					p.L303L	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	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	25	51	---	---	---	---	T	140475283	G	T	140475283	2	4	167	1	0	0	0	0	0	0	0	1	11542	1306	46	3		3	PCDHB2	5	140475283	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1774951	140475283	40439977	15	7617										
GALNT10	55568	broad.mit.edu	37	chr5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ttcaccttcacctggagagaGgacatccggcctggagaccc	11	14	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.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA	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		Somatic				GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	p.E509D	NM_198321.3	NP_938080.1	WXS	Illumina GAIIx	Phase_I	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	48	150	---	---	---	---	C	153795366	G	C	153795366	3	2	167	1	0	0	0	0	1	0	0	0	6208	991	35	4	1569	4	GALNT10	5	153795366	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	13320083	153795366	27119894	16	7618										
FOXQ1	94234	broad.mit.edu	37	chr6	1313422	1313422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tttttccgcggcagctacacGggctggcgcaactccgtgcg	13	14	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.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			Somatic					p.T161T	NM_033260.3	NP_150285.3	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	A	1313422	G	A	1313422	2	1	167	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	17	7619										
ABP1	26	broad.mit.edu	37	chr7	150554545	150554545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	agctttgccttccggctgcgCtcctcctccgggctgcaggt	12	16	0	0	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			Somatic				AOC1_ENST00000416793.2_Silent_p.R329R|AOC1_ENST00000467291.1_Silent_p.R329R|AOC1_ENST00000360937.4_Silent_p.R329R	p.R329R			WXS	Illumina GAIIx	Phase_I					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	16	36	---	---	---	---	T	150554545	C	T	150554545	2	4	167	1	0	0	0	0	0	0	0	1	98	784	28	2		2	ABP1	7	150554545	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08		150554545	8584118	18	7620										
MLL3	58508	broad.mit.edu	37	chr7	152012422	152012424	+	Splice_Site	DEL	CAC	CAC	-													0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	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.(388-393)aggtga>agga		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			Somatic				KMT2C_ENST00000262189.6_Splice_Site_p.*131del	p.*131del			WXS	Illumina GAIIx	Phase_I					4	608_609	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	DEL	ENST00000262189.6	37	c.390_391delGTG	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	167	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	19	7621										
SETX	23064	broad.mit.edu	37	chr9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	cctcaaactgaaaaagagtcTctgtcttttcttcctttact	4	11	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.chr9:135203782T>C	ENST00000224140.5	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000372169.2_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		Somatic				SETX_ENST00000393220.1_Missense_Mutation_p.E1068G|SETX_ENST00000224140.5_Missense_Mutation_p.E1068G	p.E1068G			WXS	Illumina GAIIx	Phase_I	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	3	115	---	---	---	---	C	135203782	T	C	135203782	3	2	167	1	0	0	0	0	1	0	0	0	14141	1551	54	2	4898	2	SETX	9	135203782	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		135203782	6009649	20	7622										
TRAF2	7186	broad.mit.edu	37	chr9	139793320	139793321	+	Missense_Mutation	DNP	GG	GG	TT													0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	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.chr9:139793320_139793321GG>TT	ENST00000247668.2	+	2	180_181	c.128_129GG>TT	c.(127-129)aGG>aTT	p.R43I	TRAF2_ENST00000359662.3_Missense_Mutation_p.R43I|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43I	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)		GTCCTCCGCAGGCCCTTCCAGG	0.663																																						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|c.(127-129)agG>agT		TNF receptor-associated factor 2																																				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|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	Exception_encountered	9.37:g.139793320_139793321delinsTT	ENSP00000247668:p.Arg43Ile		Somatic				TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M|TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S	p.R43M|p.R43S			WXS	Illumina GAIIx	Phase_I	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	2	173|174	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	43					A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.128G>T|c.129G>T	CCDS7013.1																																																																																				0.663	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		8|7	14	7	14	---	---	---	---	TT	139793321	GG	TT	139793320	3	4	167	1	0	0	0	0	1	0	0	0	16435	1000	35	1	130	1	TRAF2	9	139793320	Missense_Mutation	DNP	GG	TCGA-HC-7233-01A-11D-2114-08	4589538	139793320	1420111	21	7623										
CBARA1	10367	broad.mit.edu	37	chr10	74128038	74128038	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ggcgagtgaaacccatgtctTtgggcttttccaggcctctc	11	12	2	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.chr10:74128038T>C	ENST00000361114.5	-	12	1442	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	MICU1_ENST00000398761.4_Missense_Mutation_p.K451R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R|MICU1_ENST00000398763.4_Missense_Mutation_p.K251R	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		Somatic				MICU1_ENST00000398763.4_Missense_Mutation_p.K251R|MICU1_ENST00000401998.3_Missense_Mutation_p.K449R|MICU1_ENST00000361114.5_Missense_Mutation_p.K449R|MICU1_ENST00000418483.2_Missense_Mutation_p.K251R	p.K451R			WXS	Illumina GAIIx	Phase_I	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	13	41	---	---	---	---	C	74128038	T	C	74128038	3	2	167	1	0	0	0	0	1	0	0	0	2696	1841	64	2	88	2	CBARA1	10	74128038	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		74128038	61406709	22	7624										
CSTF3	1479	broad.mit.edu	37	chr11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gaggtgagaaagatagtcaaTataggccaggacatactctg	12	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.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		Somatic				TCP11L1_ENST00000324357.9_Intron	p.I451V	NM_001326.2	NP_001317.1	WXS	Illumina GAIIx	Phase_I	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	29	66	---	---	---	---	C	33117876	T	C	33117876	3	2	167	1	0	0	0	0	1	0	0	0	3986	1406	49	2	830	2	CSTF3	11	33117876	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		33117876	101888640	23	7625										
PHLDB1	23187	broad.mit.edu	37	chr11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gccacagttccctggtgagcTctattgagaaggacctgcaa	11	11	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.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		Somatic				PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	p.S192P	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	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	17	49	---	---	---	---	C	118498113	T	C	118498113	3	2	167	1	0	0	0	0	1	0	0	0	11851	1551	54	2	592	2	PHLDB1	11	118498113	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	85380237	118498113	16508403	24	7626										
GPRC5A	9052	broad.mit.edu	37	chr12	13061954	13061954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gccaatggctgggtgttcctGttggcttatgttagtcccga	13	9	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.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	9052					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			Somatic				GPRC5A_ENST00000542056.1_Intron	p.L257L	NM_003979.3	NP_003970.1	WXS	Illumina GAIIx	Phase_I	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	11	30	---	---	---	---	A	13061954	G	A	13061954	2	1	167	1	0	0	0	0	0	0	0	1	6724	1364	48	2		2	GPRC5A	12	13061954	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		13061954	120789941	25	7627										
KRT84	3890	broad.mit.edu	37	chr12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	cctgagccttggcgtgctcaAtctctgccttaagcctctgg	10	14	3	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.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		Somatic				RP3-416H24.4_ENST00000547174.1_RNA	p.I395T	NM_033045.3	NP_149034.2	WXS	Illumina GAIIx	Phase_I	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	8	196	---	---	---	---	G	52774883	A	G	52774883	3	3	167	1	0	0	0	0	1	0	0	0	8498	101	4	2	634	2	KRT84	12	52774883	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	39712929	52774883	81077012	26	7628										
TEP1	7011	broad.mit.edu	37	chr14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tgggctgagtgccacagagaGggcaggagagagagaaaggg	20	5	0	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.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		Somatic				TEP1_ENST00000545983.1_Missense_Mutation_p.L269F|TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F	p.L1931F	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	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	3	94	---	---	---	---	A	20845843	G	A	20845843	3	1	167	1	0	0	0	0	1	0	0	0	15756	1000	35	2	2156	2	TEP1	14	20845843	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		20845843	86503697	27	7629										
RBL2	5934	broad.mit.edu	37	chr16	53485706	53485706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tatggaaatgcacttcagtgTtctaatcgtaaagaacttgt	8	6	2	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.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RP11-44F14.5_ENST00000565073.1_RNA|RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	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			Somatic				RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.C27C	p.C243C	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	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	25	97	---	---	---	---	C	53485706	T	C	53485706	2	2	167	1	0	0	0	0	0	0	0	1	13110	1731	60	2		2	RBL2	16	53485706	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		53485706	36869047	28	7630										
MYCBPAP	84073	broad.mit.edu	37	chr17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ggtcaatctccacgcggtctCcctgacccaggacgtttttg	10	14	3	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.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		Somatic				MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	p.S574F	NM_032133.4	NP_115509.4	WXS	Illumina GAIIx	Phase_I	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	19	45	---	---	---	---	T	48601102	C	T	48601102	3	4	167	1	0	0	0	0	1	0	0	0	10019	855	30	2	1767	2	MYCBPAP	17	48601102	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		48601102	32594108	29	7631										
BRD4	23476	broad.mit.edu	37	chr19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gggggcagcgagggtggctcGtgaatggggtcaatggtggt	22	5	1	1	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_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000602230.1_5'Flank|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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	4	97	---	---	---	---	T	15375515	G	T	15375515	3	4	167	1	0	0	0	0	1	0	0	0	1504	1136	40	3	3251	3	BRD4	19	15375515	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		15375515	43753468	30	7632										
SPTBN4	57731	broad.mit.edu	37	chr19	41007898	41007898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	tctttctaccactatttctcCaagatgaaggctctggctgt	7	11	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.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000338932.3_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			Somatic				SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S|SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S	p.S285S			WXS	Illumina GAIIx	Phase_I	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	4	128	---	---	---	---	T	41007898	C	T	41007898	2	4	167	1	0	0	0	0	0	0	0	1	15120	581	21	2		2	SPTBN4	19	41007898	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	25632383	41007898	18121085	31	7633										
ZNF230	7773	broad.mit.edu	37	chr19	44515338	44515338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	agtcaggtcttaacttgcacCagagggtccatactggagag	12	9	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.chr19:44515338C>A	ENST00000429154.2	+	5	1375	c.1147C>A	c.(1147-1149)Cag>Aag	p.Q383K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	383				QRV -> PEG (in Ref. 1; AAB62180). {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)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TAACTTGCACCAGAGGGTCCA	0.438																																					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.(1147-1149)Cag>Aag		zinc finger protein 230							104	101	102					19																	44515338		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515338C>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.1147C>A	19.37:g.44515338C>A	ENSP00000409318:p.Gln383Lys		Somatic					p.Q383K	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	Q9UIE0	ZN230_HUMAN			5	1375	+		Prostate(69;0.0352)	383	QRV -> PEG (in Ref. 1; AAB62180).				O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1147C>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723627	0.48728	.	.	ENSG00000159882	ENST00000429154	T	0.07216	3.21	2.55	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	L	0.33189	0.99	0.09310	N	0.999999	P	0.41188	0.741	B	0.37601	0.254	T	0.38156	-0.9674	9	0.31617	T	0.26	.	7.7286	0.28773	0.0:0.7032:0.0:0.2968	.	383	Q9UIE0	ZN230_HUMAN	K	383	ENSP00000409318:Q383K	ENSP00000409318:Q383K	Q	+	1	0	ZNF230	49207178	0.000000	0.05858	0.000000	0.03702	0.801000	0.45260	-2.753000	0.00791	-0.174000	0.10743	0.205000	0.17691	CAG		0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			4	109	4	109	---	---	---	---	A	44515338	C	A	44515338	3	1	167	1	0	0	0	0	1	0	0	0	17781	595	21	1	1161	1	ZNF230	19	44515338	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	3507440	44515338	14613645	32	7634										
ZSCAN1	284312	broad.mit.edu	37	chr19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	cgaggtgggcggcccttccaGtgtgccgactgtgggatggt	18	10	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.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		Somatic					p.Q293H	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	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	20	43	---	---	---	---	T	58565071	G	T	58565071	3	4	167	1	0	0	0	0	1	0	0	0	18223	1020	36	3	893	3	ZSCAN1	19	58565071	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	14049733	58565071	563912	33	7635										
SOX12	6666	broad.mit.edu	37	chr20	306756	306756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	gaagatcatggaccagtggcCcgacatgcacaacgccgaga	12	12	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.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		Somatic				RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.P63R	p.P63R	NM_006943.2	NP_008874.2	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	G	306756	C	G	306756	3	3	167	1	0	0	0	0	1	0	0	0	14943	623	22	4	190	4	SOX12	20	306756	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		306756	62718764	34	7636										
TMEM189	387522	broad.mit.edu	37	chr20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	catgtttagcagcggcagcaGtgtcaccaggcagttgtccc	12	12	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.chr20:48746131G>C	ENST00000341698.2	-	4	429	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000557021.1_Missense_Mutation_p.L144V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V	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		Somatic				TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V	p.L144V	NM_199203.2	NP_954673	WXS	Illumina GAIIx	Phase_I			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	20	61	---	---	---	---	C	48746131	G	C	48746131	3	2	167	1	0	0	0	0	1	0	0	0	16108	1020	36	4	394	4	TMEM189	20	48746131	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	48439375	48746131	14279389	35	7637										
SRRD	402055	broad.mit.edu	37	chr22	26884138	26884138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	attctatcccaagagagatcTtggtcacaggaacctgccat	8	11	3	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.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																																						ENST00000215917.7																			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			Somatic					p.L132L	NM_001013694.2	NP_001013716.2	WXS	Illumina GAIIx	Phase_I	Q9UH36	SRR1L_HUMAN			3	408	+								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	15	51	---	---	---	---	C	26884138	T	C	26884138	2	2	167	1	0	0	0	0	0	0	0	1	15166	1606	56	2		2	SRRD	22	26884138	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		26884138	24420428	36	7638										
MAOA	4128	broad.mit.edu	37	chrX	43571169	43571169	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	1	1.65734265734266	1.79545454545455	1.5959595959596	1	1	0	ccaccagtatggaatcccatTgcatatttggattacaataa	6	9	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.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			Somatic				MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	p.I119I	NM_000240.3	NP_000231.1	WXS	Illumina GAIIx	Phase_I	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	7	91	---	---	---	---	A	43571169	T	A	43571169	2	1	167	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	37	7639										
KLHDC7A	127707	broad.mit.edu	37	chr1	18809360	18809360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	cgttcgccctggcgcacacgGccacggtgcgtgccaaggaa	14	15	0	0	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		Somatic					p.A629T	NM_152375.2	NP_689588.2	WXS	Illumina GAIIx	Phase_I	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	11	25	---	---	---	---	A	18809360	G	A	18809360	3	1	168	1	0	0	0	0	1	0	0	0	8360	1203	42	2	1887	2	KLHDC7A	1	18809360	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		18809360	230441261	1	7640										
DOCK7	85440	broad.mit.edu	37	chr1	63099200	63099216	+	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TATGGTTCTGCACACTC	-													0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	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)gagtgtgcagaaccatatfs		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		Somatic				DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs	p.ECAEPY357fs	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	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	168	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	7641										
ITLN1	55600	broad.mit.edu	37	chr1	160849127	160849127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	agtgttacatccggtgacccTcattccagcacacaaggcgt	9	13	1	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.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		Somatic				ITLN1_ENST00000487531.1_5'UTR	p.R255G	NM_017625.2	NP_060095.2	WXS	Illumina GAIIx	Phase_I	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	3	129	---	---	---	---	C	160849127	T	C	160849127	3	2	168	1	0	0	0	0	1	0	0	0	7910	1550	54	2	186	2	ITLN1	1	160849127	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	97749927	160849127	88401494	3	7642										
ETAA1	54465	broad.mit.edu	37	chr2	67631946	67631946	+	Frame_Shift_Del	DEL	A	A	-													0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	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)caafs		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		Somatic				ETAA1_ENST00000462772.1_Intron	p.Q711fs	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	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	168	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	4	7643										
CHL1	10752	broad.mit.edu	37	chr3	439982	439982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	aatagaggtatttgagccggGagctgaacatatagttcgcc	12	7	0	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	63	---	---	---	---	T	439982	G	T	439982	3	4	168	1	0	0	0	0	1	0	0	0	3349	1174	41	3	3257	3	CHL1	3	439982	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		439982	197582448	5	7644										
TATDN2	9797	broad.mit.edu	37	chr3	10320072	10320072	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	actcctctgcctgggaggccCgggaagccttgaggcagatc	14	13	1	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.chr3:10320072C>A	ENST00000287652.4	+	6	3122	c.2071C>A	c.(2071-2073)Cgg>Agg	p.R691R	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.R691R|TATDN2_ENST00000496355.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	691					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGGAGGCCCGGGAAGCCTT	0.587																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(2071-2073)Cgg>Agg		TatD DNase domain containing 2							169	169	169					3																	10320072		2203	4300	6503	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10320072C>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.2071C>A	3.37:g.10320072C>A			Somatic				TATDN2_ENST00000448281.2_Silent_p.R691R|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR	p.R691R	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			6	3122	+			691					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.2071C>A	CCDS33698.1																																																																																				0.587	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	290	4	290	---	---	---	---	A	10320072	C	A	10320072	2	1	168	1	0	0	0	0	0	0	0	1	15589	643	23	1		1	TATDN2	3	10320072	Silent	SNP	C	TCGA-HC-7736-01A-11D-2114-08	9880090	10320072	187702358	6	7645										
MYLK	4638	broad.mit.edu	37	chr3	123419029	123419029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	ctgcttgaaggctggggctgTcccctggctctctgatctct	12	13	2	2	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_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360772.3_Missense_Mutation_p.T1096A|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A|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		Somatic				MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A	p.T1096A			WXS	Illumina GAIIx	Phase_I	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	3	143	---	---	---	---	C	123419029	T	C	123419029	3	2	168	1	0	0	0	0	1	0	0	0	10056	1667	58	2	2526	2	MYLK	3	123419029	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	113098957	123419029	74603401	7	7646										
RYK	6259	broad.mit.edu	37	chr3	133896849	133896850	+	Frame_Shift_Del	DEL	AT	AT	-													0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	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)atgfs		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		Somatic				RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs	p.M225fs			WXS	Illumina GAIIx	Phase_I	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	168	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	8	7647										
PLEKHG4B	153478	broad.mit.edu	37	chr5	163530	163530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	gcaagggcctggaggtaaccAgcactgtagccacagagaag	14	10	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.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		Somatic					p.S759R	NM_052909.3	NP_443141.3	WXS	Illumina GAIIx	Phase_I	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	44	82	---	---	---	---	C	163530	A	C	163530	3	2	168	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	9	7648										
BAI3	577	broad.mit.edu	37	chr6	69348840	69348840	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	ctcctggcttatcagtttgaTcatttttcccatgaaaaaat	5	9	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.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		Somatic					p.D91E	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	22	53	---	---	---	---	A	69348840	T	A	69348840	3	1	168	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	10	7649										
PSMA2	5683	broad.mit.edu	37	chr7	42957400	42957400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	tagggttaagatggctgtatGaatggcatcttcaagttcca	11	6	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.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		Somatic				PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D	p.H189D			WXS	Illumina GAIIx	Phase_I	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	10	36	---	---	---	---	C	42957400	G	C	42957400	3	2	168	1	0	0	0	0	1	0	0	0	12667	1290	45	4	147	4	PSMA2	7	42957400	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		42957400	116181263	11	7650										
MAPKAP1	79109	broad.mit.edu	37	chr9	128321994	128321994	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	caaagtactgaagccaaactTatgaatgggctcattggaat	9	7	1	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.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_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_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		Somatic				MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q	p.K256Q	NM_001006617.1	NP_001006618.1	WXS	Illumina GAIIx	Phase_I	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	19	60	---	---	---	---	G	128321994	T	G	128321994	3	3	168	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	12	7651										
PRTFDC1	56952	broad.mit.edu	37	chr10	25160963	25160963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	gaaagatcatcgcctccgatTatctgcatctcacccatgga	7	13	3	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		Somatic				PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	p.I123M	NM_020200.5	NP_064585.1	WXS	Illumina GAIIx	Phase_I	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	18	244	---	---	---	---	C	25160963	T	C	25160963	3	2	168	1	0	0	0	0	1	0	0	0	12637	1744	61	2	332	2	PRTFDC1	10	25160963	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		25160963	110373784	13	7652										
PHYHIPL	84457	broad.mit.edu	37	chr10	60994191	60994191	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	atggattcaaaatcaaaggaTcgcattacacactattttat	5	7	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.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			Somatic				PHYHIPL_ENST00000373878.3_Silent_p.D52D	p.D78D	NM_032439.3	NP_115815.2	WXS	Illumina GAIIx	Phase_I	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	31	49	---	---	---	---	C	60994191	T	C	60994191	2	2	168	1	0	0	0	0	0	0	0	1	11867	1432	50	2		2	PHYHIPL	10	60994191	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08	35833228	60994191	74540556	14	7653										
NLRX1	79671	broad.mit.edu	37	chr11	119043649	119043649	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	ggaagctcggtagatagcgcTcccccacccgggaggcatgg	15	13	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.chr11:119043649T>C	ENST00000409109.1	+	4	767	c.180T>C	c.(178-180)gcT>gcC	p.A60A	NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_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			Somatic				NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000474751.2_3'UTR	p.A60A	NM_001282144.1	NP_001269073.1	WXS	Illumina GAIIx	Phase_I	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	3	84	---	---	---	---	C	119043649	T	C	119043649	2	2	168	1	0	0	0	0	0	0	0	1	10485	1538	54	2		2	NLRX1	11	119043649	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08		119043649	15962867	15	7654										
PVRL1	5818	broad.mit.edu	37	chr11	119548471	119548471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	ccacactgggaggcttcccaTtggctgaggtgcaggtggcc	15	12	0	1	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_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000524510.1_5'UTR	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		Somatic				PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S	p.N176S	NM_002855.4	NP_002846.3	WXS	Illumina GAIIx	Phase_I	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	20	21	---	---	---	---	C	119548471	T	C	119548471	3	2	168	1	0	0	0	0	1	0	0	0	12839	1493	52	2	1488	2	PVRL1	11	119548471	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	504822	119548471	15458045	16	7655										
DHH	50846	broad.mit.edu	37	chr12	49484963	49484963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	gactcgtagtagacccagtcGaagccggcttccactgcgag	12	13	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.chr12:49484963G>T	ENST00000266991.2	-	2	819	c.513C>A	c.(511-513)ttC>ttA	p.F171L	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	171					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						AGACCCAGTCGAAGCCGGCTT	0.597																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(511-513)ttC>ttA		desert hedgehog							128	119	122					12																	49484963		2203	4300	6503	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49484963G>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.513C>A	12.37:g.49484963G>T	ENSP00000266991:p.Phe171Leu		Somatic				RP11-386G11.8_ENST00000553174.1_RNA	p.F171L	NM_021044.2	NP_066382.1	WXS	Illumina GAIIx	Phase_I	O43323	DHH_HUMAN			2	819	-			171					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.513C>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191233	0.78902	.	.	ENSG00000139549	ENST00000266991	D	0.99413	-5.86	4.87	4.87	0.63330	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99591	0.9852	H	0.94808	3.585	0.51233	D	0.999918	D	0.89917	1.0	D	0.81914	0.995	D	0.98036	1.0379	10	0.87932	D	0	-11.7568	11.2316	0.48916	0.0881:0.0:0.9119:0.0	.	171	O43323	DHH_HUMAN	L	171	ENSP00000266991:F171L	ENSP00000266991:F171L	F	-	3	2	DHH	47771230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.683000	0.46943	2.645000	0.89757	0.650000	0.86243	TTC		0.597	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		4	163	4	163	---	---	---	---	T	49484963	G	T	49484963	3	4	168	1	0	0	0	0	1	0	0	0	4483	1049	37	3	685	3	DHH	12	49484963	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		49484963	84366932	17	7656										
MFSD5	84975	broad.mit.edu	37	chr12	53646693	53646693	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	gctggaactgtcaagatgccGggctaaaccccctggaaggg	14	11	1	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		Somatic				MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P	p.R132P	NM_001170790.1	NP_001164261.1	WXS	Illumina GAIIx	Phase_I	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	25	120	---	---	---	---	C	53646693	G	C	53646693	3	2	168	1	0	0	0	0	1	0	0	0	9534	1116	39	4	401	4	MFSD5	12	53646693	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08	4161730	53646693	80205202	18	7657										
PIWIL3	440822	broad.mit.edu	37	chr22	25155922	25155922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	ggacttcctcctgcagcggcCggggtgtcgactgcaactga	14	13	0	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_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_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		Somatic				PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	p.R46Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	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	116	250	---	---	---	---	T	25155922	C	T	25155922	3	4	168	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	19	7658										
PFKFB1	5207	broad.mit.edu	37	chrX	54989709	54989709	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.05	1	1	1.97368421052632	4.93421052631579	0	1	1	0	cctttagttggtgttcctatCcagttgagatatcgtgtgag	11	7	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.chrX:54989709C>T	ENST00000375006.3	-	2	274	c.204G>A	c.(202-204)tgG>tgA	p.W68*	PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*	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*		Somatic				PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*	p.W68*	NM_002625.2	NP_002616.2	WXS	Illumina GAIIx	Phase_I	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	58	51	---	---	---	---	T	54989709	C	T	54989709	4	4	168	1	0	0	0	0	0	1	0	0	11760	856	30	2	1263	2	PFKFB1	23	54989709	Nonsense_Mutation	SNP	C	TCGA-HC-7736-01A-11D-2114-08		54989709	100280851	20	7659										
TAGLN2	8407	broad.mit.edu	37	chr1	159889625	159889625	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	attaatgagctcacatagcaCctggatgaggacagcagggg	13	8	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.chr1:159889625C>T	ENST00000368097.4	-	3	491	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M|TAGLN2_ENST00000368096.1_Splice_Site_p.V82M	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.(181-183)Gtg>Atg		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			Somatic				TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M|TAGLN2_ENST00000368096.1_Splice_Site_p.V82M	p.V61M	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	WXS	Illumina GAIIx	Phase_I	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.181G>A	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	29	112	---	---	---	---	T	159889625	C	T	159889625	5	4	169	1	0	0	0	0	0	0	1	0	15536	521	18	2	430	2	TAGLN2	1	159889625	Splice_Site	SNP	C	TCGA-HC-7737-01A-11D-2114-08		159889625	89360996	1	7660										
TMCC2	9911	broad.mit.edu	37	chr1	205240957	205240957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	gcaggaggccgtggagtcctGcctgacccgggtcaccaagc	15	14	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.chr1:205240957G>T	ENST00000358024.3	+	5	2224	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F	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		Somatic				TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F	p.C612F	NM_014858.3	NP_055673.2	WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	T	205240957	G	T	205240957	3	4	169	1	0	0	0	0	1	0	0	0	15990	1319	46	3	1853	3	TMCC2	1	205240957	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	45351332	205240957	44009664	2	7661										
DIRC1	116093	broad.mit.edu	37	chr2	189599335	189599335	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	agcagcagggcattgtaattAggtaaggcttagttggttta	13	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.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		Somatic				AC079613.1_ENST00000431708.1_RNA	p.*105Q	NM_052952.2	NP_443184.1	WXS	Illumina GAIIx	Phase_I	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	4	118	---	---	---	---	G	189599335	A	G	189599335	4	3	169	1	0	0	0	0	0	0	0	0	4533	433	15	2	5	2	DIRC1	2	189599335	Nonstop_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		189599335	53600038	3	7662										
GALNTL2	117248	broad.mit.edu	37	chr3	16261011	16261011	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	gtctaccctgagctgtacccAtctgaacccaggcccagttt	8	15	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.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			Somatic				GALNT15_ENST00000437509.1_Silent_p.P498P	p.P498P	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					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	37	254	---	---	---	---	G	16261011	A	G	16261011	2	3	169	1	0	0	0	0	0	0	0	1	6222	204	8	2		2	GALNTL2	3	16261011	Silent	SNP	A	TCGA-HC-7737-01A-11D-2114-08		16261011	181761419	4	7663										
GABRB1	2560	broad.mit.edu	37	chr4	47408857	47408857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	cctttgtaaattacatcttcTttgggaaaggccctcagaaa	7	9	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.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		Somatic				GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	p.F332I	NM_000812.3	NP_000803.2	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	A	47408857	T	A	47408857	3	1	169	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	5	7664										
PRSS12	8492	broad.mit.edu	37	chr4	119216935	119216935	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	ttttggaggaacatttacctTaaagaatttttcccaccaat	5	8	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.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		Somatic				PRSS12_ENST00000510903.1_5'UTR	p.L638F	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	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	5	82	---	---	---	---	A	119216935	T	A	119216935	3	1	169	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	71808078	119216935	71937341	6	7665										
PCDHA5	56143	broad.mit.edu	37	chr5	140203081	140203081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	tcgagtgggtggcaccggcgGcgcagtgagcgagctggtgc	20	10	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.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|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA1_ENST00000504120.2_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	56143							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		Somatic				PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.G574V	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			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	5	65	---	---	---	---	T	140203081	G	T	140203081	3	4	169	1	0	0	0	0	1	0	0	0	11527	1203	42	3	1723	3	PCDHA5	5	140203081	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		140203081	40712179	7	7666										
PCDHGA4	56111	broad.mit.edu	37	chr5	140735010	140735010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	ttcgccctgaacccgcgcagCggcaccttggtcaccgcggg	13	17	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.chr5:140735010C>T	ENST00000571252.1	+	1	243	c.243C>T	c.(241-243)agC>agT	p.S81S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_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	56111							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			Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.S81S	NM_018917.2	NP_061740	WXS	Illumina GAIIx	Phase_I			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	3	63	---	---	---	---	T	140735010	C	T	140735010	2	4	169	1	0	0	0	0	0	0	0	1	11556	767	27	2		2	PCDHGA4	5	140735010	Silent	SNP	C	TCGA-HC-7737-01A-11D-2114-08	531929	140735010	40180250	8	7667										
FRS3	10817	broad.mit.edu	37	chr6	41738719	41738719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	ggcggcccgggtgctggtggGcttctgcagtggggtctcgt	20	10	2	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.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		Somatic				FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	p.P373S	NM_006653.3	NP_006644.1	WXS	Illumina GAIIx	Phase_I	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	5	107	---	---	---	---	A	41738719	G	A	41738719	3	1	169	1	0	0	0	0	1	0	0	0	6062	1203	42	2	365	2	FRS3	6	41738719	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		41738719	129376348	9	7668										
ALKBH4	54784	broad.mit.edu	37	chr7	102098332	102098332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	ctccagccccgggtagaggcCcatcctccgcaccacctccc	8	22	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.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		Somatic					p.G140S	NM_017621.3	NP_060091.1	WXS	Illumina GAIIx	Phase_I	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	6	36	---	---	---	---	T	102098332	C	T	102098332	3	4	169	1	0	0	0	0	1	0	0	0	529	623	22	2	494	2	ALKBH4	7	102098332	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		102098332	57040331	10	7669										
OR13D1	286365	broad.mit.edu	37	chr9	107456834	107456834	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	tactctgccatgactgaattCtttctggtggggctttccca	9	11	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.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		Somatic					p.F44L	NM_001004484.1	NP_001004484.1	WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	G	107456834	C	G	107456834	3	3	169	1	0	0	0	0	1	0	0	0	10940	912	32	4	134	4	OR13D1	9	107456834	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		107456834	33756597	11	7670										
NUP214	8021	broad.mit.edu	37	chr9	134026129	134026129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	atgacttgcatacctttcttTtggagattaaagagaccaca	7	8	1	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.chr9:134026129T>G	ENST00000359428.5	+	16	2398	c.2254T>G	c.(2254-2256)Ttg>Gtg	p.L752V	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000590461.1_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		Somatic				RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA	p.L752V			WXS	Illumina GAIIx	Phase_I	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	5	149	---	---	---	---	G	134026129	T	G	134026129	3	3	169	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	12	7671										
EPC1	80314	broad.mit.edu	37	chr10	32576086	32576086	+	Frame_Shift_Del	DEL	G	G	-													0.05	1	1	1.42666666666667	4.28	0	1	1	0	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)ttcfs		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		Somatic				EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs|EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs	p.F364fs	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	WXS	Illumina GAIIx	Phase_I	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	169	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	13	7672										
OR52E2	119678	broad.mit.edu	37	chr11	5080421	5080421	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	tcacaaacacaccaagaccaAtcacagaaacaaccttgttg	4	13	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.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		Somatic					p.I146N	NM_001005164.2	NP_001005164.2	WXS	Illumina GAIIx	Phase_I	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	4	25	---	---	---	---	T	5080421	A	T	5080421	3	4	169	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	14	7673										
CD163L1	283316	broad.mit.edu	37	chr12	7531609	7531609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	ttgcttccatatttaaatgaCacgcagtctgtttccactcc	5	12	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.chr12:7531609C>A	ENST00000313599.3	-	9	2393	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|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		Somatic				CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR	p.C779F			WXS	Illumina GAIIx	Phase_I	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	3	72	---	---	---	---	A	7531609	C	A	7531609	3	1	169	1	0	0	0	0	1	0	0	0	2968	478	17	3	2069	3	CD163L1	12	7531609	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		7531609	126320286	15	7674										
EEA1	8411	broad.mit.edu	37	chr12	93247720	93247720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	aatcagtcaccaacccatcaGgtttggcctcctcaattaaa	5	13	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.chr12:93247720G>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		Somatic					p.P126H	NM_003566.3	NP_003557	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	T	93247720	G	T	93247720	3	4	169	1	0	0	0	0	1	0	0	0	4921	1000	35	1	3954	1	EEA1	12	93247720	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	85716111	93247720	40604175	16	7675										
FAM181A	90050	broad.mit.edu	37	chr14	94395229	94395229	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	aaaaggagccgctcaagatgCctggggtctccttggtgggc	15	10	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.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-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A	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		Somatic				FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A	p.P262A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	WXS	Illumina GAIIx	Phase_I	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	2	13	---	---	---	---	G	94395229	C	G	94395229	3	3	169	1	0	0	0	0	1	0	0	0	5508	739	26	4	790	4	FAM181A	14	94395229	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		94395229	12954311	17	7676										
AKAP13	11214	broad.mit.edu	37	chr15	86284686	86284686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	gcagctgcgccgggaggcagAgcggctcagccagcggcaga	18	13	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.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_ENST00000361243.2_Missense_Mutation_p.E2677G|AKAP13_ENST00000560579.1_3'UTR	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		Somatic				AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G|AKAP13_ENST00000560579.1_3'UTR	p.E2673G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	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	5	34	---	---	---	---	G	86284686	A	G	86284686	3	3	169	1	0	0	0	0	1	0	0	0	449	304	11	2	8222	2	AKAP13	15	86284686	Missense_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		86284686	16246706	18	7677										
GTF3C1	2975	broad.mit.edu	37	chr16	27475706	27475706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	gctgctcttggcctggggaaCtgaactcaccgacaccctct	10	15	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.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		Somatic				GTF3C1_ENST00000561623.1_Intron	p.S1936I	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	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	15	89	---	---	---	---	A	27475706	C	A	27475706	3	1	169	1	0	0	0	0	1	0	0	0	6872	565	20	3	538	3	GTF3C1	16	27475706	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		27475706	62879047	19	7678										
ZNF599	148103	broad.mit.edu	37	chr19	35251088	35251088	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	1.42666666666667	4.28	0	1	1	0	gcccacttcttgctaaacccTttcccacattccgtgcatgt	5	16	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.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																																						ENST00000329285.8																			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		Somatic					p.K206N	NM_001007248.2	NP_001007249.1	WXS	Illumina GAIIx	Phase_I	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)							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	6	146	---	---	---	---	G	35251088	T	G	35251088	3	3	169	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	20	7679										
SPEN	23013	broad.mit.edu	37	chr1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tgagtaccgactgcacccctAtactgtgccacgggatgtga	11	12	0	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.chr1:16262301A>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		Somatic					p.Y3189C	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	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	11	87	---	---	---	---	G	16262301	A	G	16262301	3	3	170	1	0	0	0	0	1	0	0	0	15037	449	16	2	9608	2	SPEN	1	16262301	Missense_Mutation	SNP	A	TCGA-HC-7740-01A-11D-2114-08		16262301	232988320	1	7680										
MYOM3	127294	broad.mit.edu	37	chr1	24419567	24419567	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tggcggtctgtgtagaggatCttccgacgtctcgaggacct	14	10	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.chr1:24419567C>T	ENST00000374434.3	-	10	1122	c.960G>A	c.(958-960)aaG>aaA	p.K320K	MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000330966.7_Silent_p.K321K|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			Somatic				MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000329601.7_Silent_p.K320K	p.K321K			WXS	Illumina GAIIx	Phase_I	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	7	38	---	---	---	---	T	24419567	C	T	24419567	2	4	170	1	0	0	0	0	0	0	0	1	10093	912	32	2		2	MYOM3	1	24419567	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08	8157266	24419567	224831054	2	7681										
HHAT	55733	broad.mit.edu	37	chr1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	ttattatccagtcttacacaAtgggcccatcctcagcttct	5	13	3	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.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T	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		Somatic				HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000541565.1_Intron	p.N216T	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	11	89	---	---	---	---	C	210577986	A	C	210577986	3	2	170	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	186158419	210577986	38672635	3	7682										
RYBP	23429	broad.mit.edu	37	chr3	72495650	72495650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	cacagatcttcaagtacctgGtggaggtgcctttcctcaca	9	12	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.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																																						ENST00000477973.2																			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			Somatic					p.H140H	NM_012234.5	NP_036366.3	WXS	Illumina GAIIx	Phase_I	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)						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	4	32	---	---	---	---	A	72495650	G	A	72495650	2	1	170	1	0	0	0	0	0	0	0	1	13766	1261	44	2		2	RYBP	3	72495650	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		72495650	125526780	4	7683										
PROS1	5627	broad.mit.edu	37	chr3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tgcttaccgtttccgggtcaTtttcaaagacctccctggct	8	13	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.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		Somatic				PROS1_ENST00000407433.1_5'UTR	p.N74I	NM_000313.3	NP_000304.2	WXS	Illumina GAIIx	Phase_I	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	13	115	---	---	---	---	A	93646107	T	A	93646107	3	1	170	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	5	7684										
TIGD5	84948	broad.mit.edu	37	chr8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	cttcatgcgcagcttcatgcTcaaggacatgctctacctgg	9	13	4	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.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000531770.1_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		Somatic				TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P	p.L405P			WXS	Illumina GAIIx	Phase_I	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	6	25	---	---	---	---	C	144681434	T	C	144681434	3	2	170	1	0	0	0	0	1	0	0	0	15896	1551	54	2	1363	2	TIGD5	8	144681434	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08		144681434	1682588	6	7685										
HPS5	11234	broad.mit.edu	37	chr11	18313152	18313152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tgcaaagtgtggtccacatgTccactggtgcttttgatctt	10	9	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.chr11:18313152T>C	ENST00000349215.3	-	16	2554	c.2277A>G	c.(2275-2277)ggA>ggG	p.G759G	HPS5_ENST00000396253.3_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_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			Somatic				HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	p.G645G	NM_007216.3	NP_009147.3	WXS	Illumina GAIIx	Phase_I	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	11	123	---	---	---	---	C	18313152	T	C	18313152	2	2	170	1	0	0	0	0	0	0	0	1	7342	1654	58	2		2	HPS5	11	18313152	Silent	SNP	T	TCGA-HC-7740-01A-11D-2114-08		18313152	116693364	7	7686										
SMARCC2	6601	broad.mit.edu	37	chr12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	gggcaggaggttgccctgaaCagctgccacaatggcagggc	16	11	0	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_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V1115L|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		Somatic				SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	p.V1115L	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	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	7	108	---	---	---	---	G	56558126	C	G	56558126	3	3	170	1	0	0	0	0	1	0	0	0	14776	478	17	4	123	4	SMARCC2	12	56558126	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		56558126	77293769	8	7687										
NAA25	80018	broad.mit.edu	37	chr12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-													0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	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)cttcta>cta		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		Somatic					p.621_622LL>L	NM_024953.3	NP_079229.2	WXS	Illumina GAIIx	Phase_I	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	170	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	55927985	112486111	21365784	9	7688										
PTPN9	5780	broad.mit.edu	37	chr15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	gactttgtccttcaggaggaGactgatgatggaatagggca	14	6	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.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		Somatic					p.L204V	NM_002833.2	NP_002824.1	WXS	Illumina GAIIx	Phase_I	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	6	42	---	---	---	---	C	75801287	G	C	75801287	3	2	170	1	0	0	0	0	1	0	0	0	12794	942	33	4	1203	4	PTPN9	15	75801287	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		75801287	26730105	10	7689										
MKL2	57496	broad.mit.edu	37	chr16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	agaacaactagtggaccaggGcatcatgccacgtaagattt	10	9	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.chr16:14304154G>A	ENST00000341243.5	+	2	176	c.176G>A	c.(175-177)gGc>gAc	p.G59D	MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000571589.1_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D			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		Somatic				MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D	p.G70D	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	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	9	81	---	---	---	---	A	14304154	G	A	14304154	3	1	170	1	0	0	0	0	1	0	0	0	9602	1203	42	2	215	2	MKL2	16	14304154	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		14304154	76050599	11	7690										
SPAG9	9043	broad.mit.edu	37	chr17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tgacttttcttcattttcagCagagccttaaaaaaggacat	6	8	3	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.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	49097614	C	A	49097614	3	1	170	1	0	0	0	0	1	0	0	0	14985	710	25	3	3060	3	SPAG9	17	49097614	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		49097614	32097596	12	7691										
SMCHD1	23347	broad.mit.edu	37	chr18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	aaaacaaatattctcaacagTgaacaggtttgcttactttt	5	7	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.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	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		Somatic				RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	p.S1476R	NM_015295.2	NP_056110.2	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	G	2760731	T	G	2760731	3	3	170	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	13	7692										
RYR1	6261	broad.mit.edu	37	chr19	38934381	38934381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	ctgagctgcctcaccacctcCcgctccatgactgacaagct	7	18	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.chr19:38934381C>T	ENST00000359596.3	+	5	369	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000355481.4_Silent_p.S123S|RYR1_ENST00000360985.3_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			Somatic				RYR1_ENST00000360985.3_Silent_p.S123S|RYR1_ENST00000359596.3_Silent_p.S123S	p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	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	9	93	---	---	---	---	T	38934381	C	T	38934381	2	4	170	1	0	0	0	0	0	0	0	1	13768	610	22	2		2	RYR1	19	38934381	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08		38934381	20194602	14	7693										
ZHX3	23051	broad.mit.edu	37	chr20	39832183	39832183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	tttgaacacacagtgttaatGggtgccacacctggctgctt	10	10	0	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.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000559234.1_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			Somatic				ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P	p.P458P			WXS	Illumina GAIIx	Phase_I	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	10	57	---	---	---	---	A	39832183	G	A	39832183	2	1	170	1	0	0	0	0	0	0	0	1	17674	1335	47	2		2	ZHX3	20	39832183	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		39832183	23193337	15	7694										
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728369	104728369	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98051948051948	3.46590909090909	1.38636363636364	1	1	0	aatcagccaagtgttatagaTgtccagctgggtaagtcccc	10	10	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.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		Somatic				IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	p.D254E	NM_017416.1	NP_059112.1	WXS	Illumina GAIIx	Phase_I	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	16	51	---	---	---	---	A	104728369	T	A	104728369	3	1	170	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	16	7695										
ATP8B2	57198	broad.mit.edu	37	chr1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	tcaccatcacagctgttaaaGatgccactgatgactatgtg	8	10	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.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000426445.1_3'UTR|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		Somatic				ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	p.D129Y	NM_020452.3	NP_065185.1	WXS	Illumina GAIIx	Phase_I	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	21	40	---	---	---	---	T	154303605	G	T	154303605	3	4	171	1	0	0	0	0	1	0	0	0	1195	942	33	3	403	3	ATP8B2	1	154303605	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		154303605	94947016	1	7696										
XCL1	6375	broad.mit.edu	37	chr1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	agtgaagtctcagataagagGacctgtgtgagcctcactac	11	9	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.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		Somatic					p.R30S	NM_002995.2	NP_002986.1	WXS	Illumina GAIIx	Phase_I	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	19	71	---	---	---	---	C	168549329	G	C	168549329	3	2	171	1	0	0	0	0	1	0	0	0	17420	1165	41	4	96	4	XCL1	1	168549329	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	14245724	168549329	80701292	2	7697										
LAMC2	3918	broad.mit.edu	37	chr1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	caatcttgctaaaagcagagCacaagaagcactgagtatgg	10	8	1	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		Somatic				LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	p.A934V	NM_005562.2	NP_005553.2	WXS	Illumina GAIIx	Phase_I	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	37	109	---	---	---	---	T	183207488	C	T	183207488	3	4	171	1	0	0	0	0	1	0	0	0	8615	710	25	2	2875	2	LAMC2	1	183207488	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	14658159	183207488	66043133	3	7698										
APOB	338	broad.mit.edu	37	chr2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	cagtcatcttgaatctgttcCatcaggtaattagcaatgtc	7	9	4	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.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		Somatic				APOB_ENST00000399256.4_Missense_Mutation_p.M471I	p.M471I	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	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	11	131	---	---	---	---	T	21252827	C	T	21252827	3	4	171	1	0	0	0	0	1	0	0	0	785	594	21	2	12354	2	APOB	2	21252827	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		21252827	221946546	4	7699										
TBC1D5	9779	broad.mit.edu	37	chr3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gaccttatttatattcagggGagcacctttggcattggtcc	10	9	1	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.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|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		Somatic				TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S	p.P451S	NM_014744.2	NP_055559.1	WXS	Illumina GAIIx	Phase_I	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	12	46	---	---	---	---	A	17279892	G	A	17279892	3	1	171	1	0	0	0	0	1	0	0	0	15620	1174	41	2	1130	2	TBC1D5	3	17279892	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		17279892	180742538	5	7700										
ALDH1L1	10840	broad.mit.edu	37	chr3	125824675	125824675	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	cctgcctggagcttgtcactGacatacagggccttgttgat	11	11	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.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR	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			Somatic				ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V859V	p.V849V	NM_012190.3	NP_036322.2	WXS	Illumina GAIIx	Phase_I	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	5	177	---	---	---	---	A	125824675	G	A	125824675	2	1	171	1	0	0	0	0	0	0	0	1	494	1277	45	2		2	ALDH1L1	3	125824675	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	108544783	125824675	72197755	6	7701										
ABCA13	154664	broad.mit.edu	37	chr7	48352729	48352729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gatatagtttccagcctcagCgccttgcttgccaaagccca	8	14	1	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.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			Somatic					p.S3194S	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	10	18	---	---	---	---	T	48352729	C	T	48352729	2	4	171	1	0	0	0	0	0	0	0	1	31	767	27	2		2	ABCA13	7	48352729	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		48352729	110785934	7	7702										
BRAF	673	broad.mit.edu	37	chr7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-													0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	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)aaatctcgatggagt>agt		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		Somatic					p.KSRW601del	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	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	171	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	8	7703										
OR2F2	135948	broad.mit.edu	37	chr7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	tggcctatgaccgccatgtgGctgtgtctgaccgcctgcga	13	13	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.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		Somatic					p.A125T	NM_001004685.1	NP_001004685.1	WXS	Illumina GAIIx	Phase_I	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	35	89	---	---	---	---	A	143632698	G	A	143632698	3	1	171	1	0	0	0	0	1	0	0	0	10997	1203	42	2	375	2	OR2F2	7	143632698	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	3179576	143632698	15505965	9	7704										
LRRC61	65999	broad.mit.edu	37	chr7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gctggacctatcaggcaacgCgctcacccacctgggcccgc	11	18	2	0	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		Somatic				LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	p.A64V	NM_001142928.1	NP_001136400.1	WXS	Illumina GAIIx	Phase_I	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	4	114	---	---	---	---	T	150034141	C	T	150034141	3	4	171	1	0	0	0	0	1	0	0	0	9017	768	27	2	193	2	LRRC61	7	150034141	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	6401443	150034141	9104522	10	7705										
ELAVL2	1993	broad.mit.edu	37	chr9	23731123	23731123	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	agccatatcccaagctctgcCctaatgaaaaggaaggggaa	10	10	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.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.(229-231)gGg>gCg		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			Somatic				ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A	p.G77A	NM_004432.3	NP_004423.2	WXS	Illumina GAIIx	Phase_I	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.230G>C	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	17	28	---	---	---	---	G	23731123	C	G	23731123	5	3	171	1	0	0	0	0	0	0	1	0	5050	637	22	4	869	4	ELAVL2	9	23731123	Splice_Site	SNP	C	TCGA-HC-7742-01A-11D-2114-08		23731123	117482308	11	7706										
C9orf172	389813	broad.mit.edu	37	chr9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	tgccggcgcaccgagaccatGttcaacgcctgcctctactt	9	16	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.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000247665.10_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		Somatic					p.M676I	NM_001080482.2	NP_001073951.2	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	T	139740894	G	T	139740894	3	4	171	1	0	0	0	0	1	0	0	0	2471	1377	48	3	2030	3	C9orf172	9	139740894	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	116009771	139740894	1472537	12	7707										
SEC31B	25956	broad.mit.edu	37	chr10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gacttactaagtcagttgcaGacagggagcagcgttggaga	14	7	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.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		Somatic					p.S1092Y	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	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	35	62	---	---	---	---	T	102248628	G	T	102248628	3	4	171	1	0	0	0	0	1	0	0	0	13999	942	33	3	276	3	SEC31B	10	102248628	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		102248628	33286119	13	7708										
TMEM102	284114	broad.mit.edu	37	chr17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gtggtgtccgtggcgggctgGcccgagggggctcggagcca	21	11	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_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_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		Somatic				RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA	p.W327C	NM_178518.2	NP_848613.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	7340279	G	T	7340279	3	4	171	1	0	0	0	0	1	0	0	0	16014	1212	42	3	987	3	TMEM102	17	7340279	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		7340279	73854931	14	7709										
TP53	7157	broad.mit.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-													0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	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_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_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	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)agafs	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)	Somatic				TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_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	WXS	Illumina GAIIx	Phase_I	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	171	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	15	7710										
COASY	80347	broad.mit.edu	37	chr17	40717505	40717505	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	acaggaaagcgtgtgtgtgtGattgatgccgctgtgttgct	15	6	0	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|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000421097.2_Silent_p.V468V|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000449624.1_Silent_p.V173V	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			Somatic				COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000420359.1_Silent_p.V468V	p.V468V	NM_025233.6	NP_079509.5	WXS	Illumina GAIIx	Phase_I	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	17	49	---	---	---	---	T	40717505	G	T	40717505	2	4	171	1	0	0	0	0	0	0	0	1	3652	1277	45	3		3	COASY	17	40717505	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	33139283	40717505	40477705	16	7711										
MRPL54	116541	broad.mit.edu	37	chr19	3762707	3762707	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	ccgcaatacgtcatggcgacCaaacgccttttcggggctac	10	14	1	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.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			Somatic					p.T3T	NM_172251.2	NP_758455.1	WXS	Illumina GAIIx	Phase_I	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	37	105	---	---	---	---	G	3762707	C	G	3762707	2	3	171	1	0	0	0	0	0	0	0	1	9818	581	21	4		4	MRPL54	19	3762707	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		3762707	55366276	17	7712										
WDR83	84292	broad.mit.edu	37	chr19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.882926829268293	0	1.26132404181185	1	1	0	gtggaacccgcttcgggggaCgctgctgcggacgtacagcg	17	12	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.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|WDR83OS_ENST00000600694.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	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		Somatic				WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	p.T58K	NM_001099737.2	NP_001093207.1	WXS	Illumina GAIIx	Phase_I	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	3	75	---	---	---	---	A	12780860	C	A	12780860	3	1	171	1	0	0	0	0	1	0	0	0	17329	536	19	3	179	3	WDR83	19	12780860	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	9018153	12780860	46348123	18	7713										
TTLL10	254173	broad.mit.edu	37	chr1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	taccgcctggacctcaaacaCgagagagaggcctttttcac	9	13	2	2	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_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q			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		Somatic				TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q	p.H295Q			WXS	Illumina GAIIx	Phase_I	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	15	106	---	---	---	---	G	1117795	C	G	1117795	3	3	172	1	0	0	0	0	1	0	0	0	16720	535	19	4	911	4	TTLL10	1	1117795	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		1117795	248132826	1	7714										
TRIT1	54802	broad.mit.edu	37	chr1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	tcggtcaatcactttctcagTgcccatctcctggggctatt	8	13	4	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.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000537223.1_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		Somatic				TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron	p.T144S	NM_017646.4	NP_060116.2	WXS	Illumina GAIIx	Phase_I	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	47	104	---	---	---	---	A	40318533	T	A	40318533	3	1	172	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	39200738	40318533	208932088	2	7715										
EPS8L3	79574	broad.mit.edu	37	chr1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ccatagggagcggcctttccAtagcaggccccctccatctg	10	16	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.chr1:110301232A>G	ENST00000361965.4	-	7	621	c.515T>C	c.(514-516)aTg>aCg	p.M172T	EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000369805.3_Missense_Mutation_p.M173T|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	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		Somatic				EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	p.M173T	NM_139053.2	NP_620641.1	WXS	Illumina GAIIx	Phase_I	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	24	42	---	---	---	---	G	110301232	A	G	110301232	3	3	172	1	0	0	0	0	1	0	0	0	5197	217	8	2	1318	2	EPS8L3	1	110301232	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	69982699	110301232	138949389	3	7716										
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	cttcctttaggtaaggagtgCcaatggaccgatgcctgcct	11	11	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.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_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		Somatic				NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W	p.C103W			WXS	Illumina GAIIx	Phase_I	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	63	641	---	---	---	---	G	145281379	C	G	145281379	3	3	172	1	0	0	0	0	1	0	0	0	10549	747	26	4	319	4	NOTCH2NL	1	145281379	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	34980147	145281379	103969242	4	7717										
SPTA1	6708	broad.mit.edu	37	chr1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	gatctctatgccagttaagtCttcggccagctcctgtgatg	10	11	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.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																																						ENST00000368147.4																			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		Somatic					p.D1320H	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			28	4138	-	all_hematologic(112;0.0378)							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	9	157	---	---	---	---	G	158615323	C	G	158615323	3	3	172	1	0	0	0	0	1	0	0	0	15115	913	32	4	3401	4	SPTA1	1	158615323	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	13333944	158615323	90635298	5	7718										
ARID4B	51742	broad.mit.edu	37	chr1	235338686	235338686	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ttagttatactttcaccagcTgaaagttcttcactatcact	4	10	4	1	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_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	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			Somatic				ARID4B_ENST00000349213.3_Silent_p.S1073S|ARID4B_ENST00000366603.2_Silent_p.S1159S	p.S1159S	NM_016374.5	NP_057458.4	WXS	Illumina GAIIx	Phase_I	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	4	103	---	---	---	---	G	235338686	T	G	235338686	2	3	172	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	76723363	235338686	13911935	6	7719										
GTDC1	79712	broad.mit.edu	37	chr2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ttgccactccaaagaattcaTgcttagctgttgagatgaca	8	9	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.chr2:144714783T>A	ENST00000392869.2	-	8	1261	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000392867.3_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																																						ENST00000392869.2																			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		Somatic				GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000409214.1_Missense_Mutation_p.H370L|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L	p.H370L	NM_001284234.1	NP_001271163.1	WXS	Illumina GAIIx	Phase_I	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	8	1261	-								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	21	40	---	---	---	---	A	144714783	T	A	144714783	3	1	172	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		144714783	98484590	7	7720										
PIKFYVE	200576	broad.mit.edu	37	chr2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	gctgggatccacagacagccAagtgaaggaaaagtcaacca	11	10	1	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.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		Somatic					p.Q1617P	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	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	59	59	---	---	---	---	C	209204774	A	C	209204774	3	2	172	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	8	7721										
XPC	7508	broad.mit.edu	37	chr3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	cagatggtgtgccttcttgaGgtcacttggaaagtccctgt	12	9	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.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		Somatic				XPC_ENST00000449060.2_Missense_Mutation_p.L106I	p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	WXS	Illumina GAIIx	Phase_I	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	6	130	---	---	---	---	T	14212034	G	T	14212034	3	4	172	1	0	0	0	0	1	0	0	0	17438	1000	35	1	1511	1	XPC	3	14212034	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		14212034	183810396	9	7722										
SEL1L3	23231	broad.mit.edu	37	chr4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	gctctaaggcaagccgtctgTtcttttttactccttgaccc	7	13	3	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.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		Somatic				SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S	p.N746S	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	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	8	156	---	---	---	---	C	25785893	T	C	25785893	3	2	172	1	0	0	0	0	1	0	0	0	14012	1725	60	2	1205	2	SEL1L3	4	25785893	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		25785893	165368383	10	7723										
FBN2	2201	broad.mit.edu	37	chr5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	agggatggccccacgcccgtCcaatggtggcacagcacaga	13	14	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.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V			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		Somatic				FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V	p.G244V			WXS	Illumina GAIIx	Phase_I	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	46	56	---	---	---	---	A	127800512	C	A	127800512	3	1	172	1	0	0	0	0	1	0	0	0	5703	855	30	3	8247	3	FBN2	5	127800512	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		127800512	53114748	11	7724										
PSD2	84249	broad.mit.edu	37	chr5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	tgatgatgaggaggacacggAcaagttgctgaactcagcca	13	8	1	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.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		Somatic					p.D267A	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	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	7	14	---	---	---	---	C	139193322	A	C	139193322	3	2	172	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	12	7725										
CDHR2	54825	broad.mit.edu	37	chr5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	cccagctggagatacagcttGtgaacattctctgcaccaag	9	12	1	2	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		Somatic				CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L|CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L	p.V847L	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	176011821	G	T	176011821	3	4	172	1	0	0	0	0	1	0	0	0	3119	1377	48	3	2609	3	CDHR2	5	176011821	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	36818499	176011821	4903439	13	7726										
BAI3	577	broad.mit.edu	37	chr6	69349086	69349086	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ggttgccatgtattatgtacTtggttggagagctgcttaaa	12	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.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			Somatic					p.T173T	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	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	3	86	---	---	---	---	G	69349086	T	G	69349086	2	3	172	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	14	7727										
TSTD2	158427	broad.mit.edu	37	chr9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ttcatctgcagacgaaagacTctttgaggtgctcaatgtca	9	9	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.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		Somatic				TSTD2_ENST00000354801.2_5'UTR	p.S124G	NM_139246.4	NP_640339.4	WXS	Illumina GAIIx	Phase_I	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	53	69	---	---	---	---	C	100388075	T	C	100388075	3	2	172	1	0	0	0	0	1	0	0	0	16672	1551	54	2	1212	2	TSTD2	9	100388075	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		100388075	40825356	15	7728										
EHBP1L1	254102	broad.mit.edu	37	chr11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	aacttggtgacctcgaggggGccagggctgctgcaggccag	17	11	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.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		Somatic					p.A498S	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	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	5	17	---	---	---	---	T	65349635	G	T	65349635	3	4	172	1	0	0	0	0	1	0	0	0	4976	1203	42	3	1526	3	EHBP1L1	11	65349635	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		65349635	69656881	16	7729										
ACVR1B	91	broad.mit.edu	37	chr12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	gaattgctcatcgagacttaAagtcaaagaacattctggtg	9	7	3	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.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_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		Somatic				ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	WXS	Illumina GAIIx	Phase_I	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	18	29	---	---	---	---	G	52379005	A	G	52379005	3	3	172	1	0	0	0	0	1	0	0	0	221	15	1	2	1158	2	ACVR1B	12	52379005	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08		52379005	81472890	17	7730										
CCT2	10576	broad.mit.edu	37	chr12	69986785	69986785	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	tcccgggtaagagttgactcTacagcaaaggttgcagaaat	11	8	1	3	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_ENST00000543146.2_Silent_p.S213S|CCT2_ENST00000544368.2_Silent_p.S260S	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			Somatic				CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000299300.6_Silent_p.S260S	p.S213S	NM_001198842.1	NP_001185771.1	WXS	Illumina GAIIx	Phase_I	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	19	31	---	---	---	---	C	69986785	T	C	69986785	2	2	172	1	0	0	0	0	0	0	0	1	2953	1509	53	2		2	CCT2	12	69986785	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08	17607780	69986785	63865110	18	7731										
MAPKAPK5	8550	broad.mit.edu	37	chr12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	actcagtgaacaaccccattCtgcggaagaggaagttactt	9	10	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.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		Somatic				MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	WXS	Illumina GAIIx	Phase_I	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	45	64	---	---	---	---	G	112326400	C	G	112326400	3	3	172	1	0	0	0	0	1	0	0	0	9291	912	32	4	1120	4	MAPKAPK5	12	112326400	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	42339615	112326400	21525495	19	7732										
AHNAK2	113146	broad.mit.edu	37	chr14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	ctgcatggagaggaggctcaCgtcggcctccaccttcggcg	14	14	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.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		Somatic				AHNAK2_ENST00000557457.1_Intron	p.V709M	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	5	182	---	---	---	---	T	105419663	C	T	105419663	3	4	172	1	0	0	0	0	1	0	0	0	415	536	19	2	15266	2	AHNAK2	14	105419663	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		105419663	1929877	20	7733										
CNOT1	23019	broad.mit.edu	37	chr16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T													0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	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)aatfs		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		Somatic				CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.N2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.N1104fs	p.N2253fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	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	172	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	21	7734										
ALOX15	246	broad.mit.edu	37	chr17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	atccttccagcaagtcagaaCatttagagagtctttgatag	8	8	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.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F			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		Somatic				ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F|ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F	p.V193F			WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	A	4541945	C	A	4541945	3	1	172	1	0	0	0	0	1	0	0	0	538	478	17	3	1451	3	ALOX15	17	4541945	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		4541945	76653265	22	7735										
NCOR1	9611	broad.mit.edu	37	chr17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G													0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	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_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs	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)accaatfs		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		Somatic				NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.N1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.N241fs	p.N1657fs	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	172	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	23	7736										
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	agtccaatatgaggttcaacAagaggatccacagcagctgg	11	9	1	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		Somatic					p.C146R			WXS	Illumina GAIIx	Phase_I	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	5	226	---	---	---	---	G	39340671	A	G	39340671	3	3	172	1	0	0	0	0	1	0	0	0	8548	130	5	2	8	2	KRTAP4-1	17	39340671	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	23372355	39340671	41854539	24	7737										
MUC16	94025	broad.mit.edu	37	chr19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	tcttgctgtcaagagttgtaAaacctagagtggggaccaag	12	7	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.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		Somatic					p.F461Y	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	6	181	---	---	---	---	T	9090433	A	T	9090433	3	4	172	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	25	7738										
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	cacctgccagctgcgttcctCtctctacagggactgtcaga	9	15	3	1	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		Somatic					p.S46F	NM_181600.1	NP_853631.1	WXS	Illumina GAIIx	Phase_I	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	40	47	---	---	---	---	T	31802730	C	T	31802730	3	4	172	1	0	0	0	0	1	0	0	0	8525	913	32	2	139	2	KRTAP13-4	21	31802730	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		31802730	16327165	26	7739										
BRWD1	54014	broad.mit.edu	37	chr21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	accataattcactggcatttCaggaggtcttcctctatgaa	7	10	4	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.chr21:40668227C>T	ENST00000333229.2	-	6	739	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000342449.3_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		Somatic				BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K	p.E138K	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	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	54	31	---	---	---	---	T	40668227	C	T	40668227	3	4	172	1	0	0	0	0	1	0	0	0	1525	835	29	2	6937	2	BRWD1	21	40668227	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	8865497	40668227	7461668	27	7740										
PCDH11X	27328	broad.mit.edu	37	chrX	91132876	91132876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.844856270817979	3.42857142857143	3	4	1	1	0	aattctggcaaaagataacgGggtaccacccttaaccagca	8	11	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.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_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_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		Somatic				PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	p.G546V	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	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	62	12	---	---	---	---	T	91132876	G	T	91132876	3	4	172	1	0	0	0	0	1	0	0	0	11508	1232	43	1	1643	1	PCDH11X	23	91132876	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		91132876	64137684	28	7741										
MTHFR	4524	broad.mit.edu	37	chr1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	agtagtcaccaaactcacttCggatgtgcttcaccaggtcc	8	13	3	0	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_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q			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		Somatic				MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q	p.R183Q			WXS	Illumina GAIIx	Phase_I	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	5	266	---	---	---	---	T	11860307	C	T	11860307	3	4	173	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	7742										
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tgccatacttggaaaagatcGcctccacatccgatttcttg	7	12	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.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		Somatic					p.A35V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina GAIIx	Phase_I					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	6	184	---	---	---	---	A	12908039	G	A	12908039	3	1	173	1	0	0	0	0	1	0	0	0	7263	1087	38	2	779	2	HNRNPCL1	1	12908039	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1047732	12908039	236342582	2	7743										
DEM1	64789	broad.mit.edu	37	chr1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-													0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	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	EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.6_ENST00000437060.1_RNA|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs			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)aacfs		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		Somatic				EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs	p.N149fs			WXS	Illumina GAIIx	Phase_I					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	173	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	7744										
CACHD1	57685	broad.mit.edu	37	chr1	65142590	65142590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ctgcacagaaaccccagctgCgaggtccaccaggagccggt	12	15	0	1	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_ENST00000290039.5_Silent_p.C945C|CACHD1_ENST00000495994.1_3'UTR			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			Somatic				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C	p.C996C			WXS	Illumina GAIIx	Phase_I	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	27	198	---	---	---	---	T	65142590	C	T	65142590	2	4	173	1	0	0	0	0	0	0	0	1	2537	776	27	2		2	CACHD1	1	65142590	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	24161928	65142590	184108031	4	7745										
SPTA1	6708	broad.mit.edu	37	chr1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gtcgcctagcagctcgagcaCggagagactccatattctgg	12	12	1	1	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																																						ENST00000368147.4																			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		Somatic					p.R885H	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			19	2834	-	all_hematologic(112;0.0378)							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	15	187	---	---	---	---	T	158627418	C	T	158627418	3	4	173	1	0	0	0	0	1	0	0	0	15115	536	19	2	4741	2	SPTA1	1	158627418	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	93484828	158627418	90623203	5	7746										
CD48	962	broad.mit.edu	37	chr1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gaccttagagatgtacagtgCgccactctgaggatcaagtc	11	10	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.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_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_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		Somatic				CD48_ENST00000368046.3_Missense_Mutation_p.A93T	p.A93T			WXS	Illumina GAIIx	Phase_I	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	4	166	---	---	---	---	T	160654785	C	T	160654785	3	4	173	1	0	0	0	0	1	0	0	0	3020	768	27	2	466	2	CD48	1	160654785	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	2027367	160654785	88595836	6	7747										
C2orf84	653140	broad.mit.edu	37	chr2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ttcactttcacttcacactgTgtgattccaaaagagtggca	7	10	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.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*		Somatic				RP11-507M3.1_ENST00000584973.1_3'UTR	p.C113*	NM_001040710.1	NP_001035800.1	WXS	Illumina GAIIx	Phase_I					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	3	43	---	---	---	---	A	24406452	T	A	24406452	4	1	173	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	7	7748										
LRPPRC	10128	broad.mit.edu	37	chr2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gggaattgtatgcttcttccTtttcatttaattcaggaatc	7	7	3	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.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		Somatic					p.K1317R	NM_133259.3	NP_573566.2	WXS	Illumina GAIIx	Phase_I	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	3	81	---	---	---	---	C	44121719	T	C	44121719	3	2	173	1	0	0	0	0	1	0	0	0	8965	1609	56	2	246	2	LRPPRC	2	44121719	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	19715267	44121719	199077654	8	7749										
DQX1	165545	broad.mit.edu	37	chr2	74750268	74750268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ggtgggaaccctcttgctcgCaatcgtcttgcctctgcctg	11	14	3	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.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Silent_p.L374L	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			Somatic				DQX1_ENST00000393951.2_Silent_p.L374L	p.L374L	NM_133637.2	NP_598376.2	WXS	Illumina GAIIx	Phase_I	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	7	193	---	---	---	---	T	74750268	C	T	74750268	2	4	173	1	0	0	0	0	0	0	0	1	4751	709	25	2		2	DQX1	2	74750268	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	30628549	74750268	168449105	9	7750										
RANBP2	5903	broad.mit.edu	37	chr2	109365452	109365452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gaaacttttgccaacaaaagCgggcagtctgcattatatga	9	8	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.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			Somatic					p.S380S	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	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	6	232	---	---	---	---	T	109365452	C	T	109365452	2	4	173	1	0	0	0	0	0	0	0	1	13028	767	27	2		2	RANBP2	2	109365452	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	34615184	109365452	133833921	10	7751										
LRP2	4036	broad.mit.edu	37	chr2	170136033	170136033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	attaacccagtccacagccaGgttctctggggtttcaacag	9	12	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.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			Somatic				LRP2_ENST00000443831.1_Silent_p.L472L	p.L472L	NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	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	19	77	---	---	---	---	A	170136033	G	A	170136033	2	1	173	1	0	0	0	0	0	0	0	1	8956	991	35	2		2	LRP2	2	170136033	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	60770581	170136033	73063340	11	7752										
DNPEP	23549	broad.mit.edu	37	chr2	220251660	220251660	+	De_novo_Start_OutOfFrame	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tctcagtctccttgagttcaCtgaagccagcctggagaagg	11	11	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.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|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			Somatic				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N				WXS	Illumina GAIIx	Phase_I	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	16	79	---	---	---	---	T	220251660	C	T	220251660	1	4	173	1	0	1	0	0	0	0	0	0	4679	565	20	2		2	DNPEP	2	220251660	De_novo_Start_OutOfFrame	SNP	C	TCGA-HC-7747-01A-11D-2114-08	50115627	220251660	22947713	12	7753										
DLEC1	9940	broad.mit.edu	37	chr3	38139333	38139333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cagatccggaacgtcagccaGctcccagccacatggcgcat	10	16	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.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_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			Somatic				DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q	p.Q888Q			WXS	Illumina GAIIx	Phase_I	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	3	76	---	---	---	---	A	38139333	G	A	38139333	2	1	173	1	0	0	0	0	0	0	0	1	4552	962	34	2		2	DLEC1	3	38139333	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08		38139333	159883097	13	7754										
UROC1	131669	broad.mit.edu	37	chr3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cccccgatgtgcacacccagCggaaaggcccaaatccctgg	10	17	0	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		Somatic				UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	WXS	Illumina GAIIx	Phase_I	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	9	250	---	---	---	---	T	126216983	C	T	126216983	3	4	173	1	0	0	0	0	1	0	0	0	17025	768	27	2	709	2	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	88077650	126216983	71805447	14	7755										
MFI2	4241	broad.mit.edu	37	chr3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cgcggtagccgtaataccgcTcctggctgttgcccacacac	10	16	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.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		Somatic					p.E551A	NM_005929.5	NP_005920.2	WXS	Illumina GAIIx	Phase_I	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	6	77	---	---	---	---	G	196735710	T	G	196735710	3	3	173	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	70518727	196735710	1286720	15	7756										
SLC45A2	51151	broad.mit.edu	37	chr5	33947262	33947262	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	aaggcagaggttcaatgacaGcacacctccttttcttcctc	7	13	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.chr5:33947262G>A	ENST00000296589.4	-	6	1515				SLC45A2_ENST00000382102.3_Silent_p.C458C|SLC45A2_ENST00000342059.3_Intron	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			Somatic				SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	p.C458C	NM_001012509.2	NP_001012527	WXS	Illumina GAIIx	Phase_I	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	4	262	---	---	---	---	A	33947262	G	A	33947262	1	1	173	0	1	0	0	0	0	0	0	0	14641	963	34	2		2	SLC45A2	5	33947262	Intron	SNP	G	TCGA-HC-7747-01A-11D-2114-08		33947262	146967998	16	7757										
CCL28	56477	broad.mit.edu	37	chr5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tcttgccatggtgtttcttcCtgtggcaaacatttccttta	7	10	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.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		Somatic				CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	p.R101M	NM_148672.2	NP_683513.1	WXS	Illumina GAIIx	Phase_I	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	5	175	---	---	---	---	A	43382044	C	A	43382044	3	1	173	1	0	0	0	0	1	0	0	0	2900	681	24	1	85	1	CCL28	5	43382044	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	9434782	43382044	137533216	17	7758										
PCDHB14	56122	broad.mit.edu	37	chr5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cctggtggtggcattggcctCggtgtcgtcgctcttcctct	13	13	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.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	56122				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		Somatic				PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	p.S696L	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	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	4	203	---	---	---	---	T	140605164	C	T	140605164	3	4	173	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	97223120	140605164	40310096	18	7759										
MAK	4117	broad.mit.edu	37	chr6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gatatcttgattgtttcaagTagtactgtttagaggttgga	11	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.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	MAK_ENST00000538030.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C			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		Somatic				RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C	p.Y480C			WXS	Illumina GAIIx	Phase_I	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	6	84	---	---	---	---	C	10784683	T	C	10784683	3	2	173	1	0	0	0	0	1	0	0	0	9197	1638	57	2	448	2	MAK	6	10784683	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08		10784683	160330384	19	7760										
MOXD1	26002	broad.mit.edu	37	chr6	132645229	132645229	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	aacctcagtccagaattatcTattaagcctagaacaaaagc	5	10	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.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			Somatic				MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	p.I318I	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	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	5	65	---	---	---	---	G	132645229	T	G	132645229	2	3	173	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	121860546	132645229	38469838	20	7761										
RP1	6101	broad.mit.edu	37	chr8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	aggagaaccatacctatgagGgagcttgcccaattgatgag	12	8	0	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		Somatic					p.G1325R	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	26	108	---	---	---	---	A	55540415	G	A	55540415	3	1	173	1	0	0	0	0	1	0	0	0	13532	1233	43	2	3983	2	RP1	8	55540415	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		55540415	90823607	21	7762										
KIAA1529	100499483	broad.mit.edu	37	chr9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	agttcgaggaacagcagaagCggctggagaaaagaaaggtg	16	5	0	3	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|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W|CCDC180_ENST00000375202.2_Missense_Mutation_p.R1489W|RP11-23J9.4_ENST00000534123.1_RNA			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		Somatic				RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W	p.R1489W			WXS	Illumina GAIIx	Phase_I					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	4	29	---	---	---	---	T	100132347	C	T	100132347	3	4	173	1	0	0	0	0	1	0	0	0	8240	759	27	2	4430	2	KIAA1529	9	100132347	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		100132347	41081084	22	7763										
GAD2	2572	broad.mit.edu	37	chr10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ttggaatatgtcacactaaaGaaaatgagagaaatcattgg	9	4	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.chr10:26513522G>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		Somatic				GAD2_ENST00000259271.3_Missense_Mutation_p.K222N|GAD2_ENST00000376248.1_Missense_Mutation_p.K108N	p.K222N	NM_001134366.1	NP_001127838.1	WXS	Illumina GAIIx	Phase_I	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	5	120	---	---	---	---	T	26513522	G	T	26513522	3	4	173	1	0	0	0	0	1	0	0	0	6180	933	33	3	688	3	GAD2	10	26513522	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		26513522	109021225	23	7764										
CSTF2T	23283	broad.mit.edu	37	chr10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tacacgtgtctctaagacctCagtttccatggcacgagtct	8	12	3	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.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_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		Somatic				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E426K	NM_015235.2	NP_056050.1	WXS	Illumina GAIIx	Phase_I	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	8	90	---	---	---	---	T	53458034	C	T	53458034	3	4	173	1	0	0	0	0	1	0	0	0	3985	835	29	2	578	2	CSTF2T	10	53458034	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26944512	53458034	82076713	24	7765										
SLCO2B1	11309	broad.mit.edu	37	chr11	74904264	74904264	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tctgcactcgcccccacagtCttccccagggtgctgctgca	9	18	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.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_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V	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.(1075-1077)gtC>gtA		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			Somatic				SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V	p.V359V	NM_007256.4	NP_009187	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			9	1472	+			359					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Splice_Site	SNP	ENST00000289575.5	37	c.1077C>A	CCDS8235.1																																																																																				0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	Silent	5	120	5	120	---	---	---	---	A	74904264	C	A	74904264	5	1	173	1	0	0	0	0	0	0	1	0	14727	927	32	3	1111	3	SLCO2B1	11	74904264	Splice_Site	SNP	C	TCGA-HC-7747-01A-11D-2114-08		74904264	60102252	25	7766										
PRKAG1	5571	broad.mit.edu	37	chr12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tgttcttctagctcatagatCtgtacctgaaagcagaagca	8	9	4	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.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H			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		Somatic				RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA	p.Q105H			WXS	Illumina GAIIx	Phase_I	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	5	118	---	---	---	---	A	49398943	C	A	49398943	3	1	173	1	0	0	0	0	1	0	0	0	12500	912	32	3	708	3	PRKAG1	12	49398943	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		49398943	84452952	26	7767										
ZDHHC17	23390	broad.mit.edu	37	chr12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	aacttgtgttttacagatccTttttcgatcattcaatgcat	5	8	2	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.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		Somatic				ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	p.F349L	NM_015336.2	NP_056151.2	WXS	Illumina GAIIx	Phase_I	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	3	197	---	---	---	---	C	77222174	T	C	77222174	3	2	173	1	0	0	0	0	1	0	0	0	17604	1609	56	2	1083	2	ZDHHC17	12	77222174	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	27823231	77222174	56629721	27	7768										
ATP2A2	488	broad.mit.edu	37	chr12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G													0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	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.(1450-1455)atgtttfs		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		Somatic				ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.F512fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs	p.F485fs			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			11	2014_2015	+			512					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	173	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	28	7769										
DEGS2	51466	broad.mit.edu	37	chr14	100613237	100613237	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cgtagtactcgggcgcgatcTtccgcacctgtagagaggag	14	11	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.chr14:100613237T>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000557117.1_5'Flank|DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D|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			Somatic				DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	p.K278T	NM_206918.2	NP_996801.2	WXS	Illumina GAIIx	Phase_I	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	7	87	---	---	---	---	G	100613237	T	G	100613237	1	3	173	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		100613237	6736303	29	7770										
SPTBN5	51332	broad.mit.edu	37	chr15	42147470	42147470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tcctgggactcggcggtggcCgccttggtggtcagccaggc	17	13	1	0	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			Somatic					p.A3125A	NM_016642.2	NP_057726.4	WXS	Illumina GAIIx	Phase_I	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	3	44	---	---	---	---	T	42147470	C	T	42147470	2	4	173	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	30	7771										
C15orf26	161502	broad.mit.edu	37	chr15	81427611	81427611	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tttgttgattttctgtttagGagctcatgaaagacttctta	8	5	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.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.(70-72)Gag>Tag		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			Somatic					p.E24*	NM_173528.2	NP_775799.2	WXS	Illumina GAIIx	Phase_I	Q6P656	CO026_HUMAN			2	153	+			24					Q8N906	Splice_Site	SNP	ENST00000286732.4	37	c.70G>T	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	5	53	---	---	---	---	T	81427611	G	T	81427611	5	4	173	1	0	0	0	0	0	0	1	0	1787	1188	41	3	76	3	C15orf26	15	81427611	Splice_Site	SNP	G	TCGA-HC-7747-01A-11D-2114-08	39280141	81427611	21103781	31	7772										
ACAN	176	broad.mit.edu	37	chr15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gcccagcactcctacggttgGtgaactgccctctggagctg	12	14	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.chr15:89398620G>A	ENST00000561243.1	+	11	2804	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000439576.2_Missense_Mutation_p.G935D|ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_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		Somatic				ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D	p.G935D	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	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	4	34	---	---	---	---	A	89398620	G	A	89398620	3	1	173	1	0	0	0	0	1	0	0	0	117	1261	44	2	2846	2	ACAN	15	89398620	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	7971009	89398620	13132772	32	7773										
HS3ST2	9956	broad.mit.edu	37	chr16	22926769	22926769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cgatgcttgggcaaatcaaaAgggagaactcatgtacagat	11	7	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.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			Somatic					p.K330K	NM_006043.1	NP_006034.1	WXS	Illumina GAIIx	Phase_I	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	4	201	---	---	---	---	G	22926769	A	G	22926769	2	3	173	1	0	0	0	0	0	0	0	1	7364	69	3	2		2	HS3ST2	16	22926769	Silent	SNP	A	TCGA-HC-7747-01A-11D-2114-08		22926769	67427984	33	7774										
NLRC5	84166	broad.mit.edu	37	chr16	57088675	57088675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cttttcaggctgagccagacGggactgtccccgaaaagccc	11	14	1	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			Somatic				NLRC5_ENST00000308149.7_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T	p.T1173T			WXS	Illumina GAIIx	Phase_I	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	5	410	---	---	---	---	A	57088675	G	A	57088675	2	1	173	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	34161906	57088675	33266078	34	7775										
GINS3	64785	broad.mit.edu	37	chr16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	gtcccgagaatgcagacattTcccagtctctgctgcaggca	10	13	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.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	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		Somatic				GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	p.S135P	NM_022770.3	NP_073607.2	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	C	58437218	T	C	58437218	3	2	173	1	0	0	0	0	1	0	0	0	6389	1783	62	2	530	2	GINS3	16	58437218	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	1348543	58437218	31917535	35	7776										
MRPS23	51649	broad.mit.edu	37	chr17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	tgtggaacttctttctgagtCtcgttttcttccaacgcagt	8	10	4	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.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		Somatic					p.E166D	NM_016070.3	NP_057154.2	WXS	Illumina GAIIx	Phase_I	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	5	74	---	---	---	---	A	55917219	C	A	55917219	3	1	173	1	0	0	0	0	1	0	0	0	9834	912	32	3	78	3	MRPS23	17	55917219	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		55917219	25277991	36	7777										
TCF3	6929	broad.mit.edu	37	chr19	1615477	1615477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	cgctccttctcccgctcggcCttctgctctggggggagaag	13	15	3	1	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	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_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			Somatic				TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.K543K	NM_003200.3	NP_003191.1	WXS	Illumina GAIIx	Phase_I	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	28	73	---	---	---	---	T	1615477	C	T	1615477	2	4	173	1	0	0	0	0	0	0	0	1	15691	680	24	2		2	TCF3	19	1615477	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		1615477	57513506	37	7778										
ZNF536	9745	broad.mit.edu	37	chr19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ccaccgagtgccccgactgcGgccgggtgttccgcacttac	12	17	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.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		Somatic					p.G637S	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	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	4	173	---	---	---	---	A	30936378	G	A	30936378	3	1	173	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	29320901	30936378	28192605	38	7779										
CATSPERG	57828	broad.mit.edu	37	chr19	38858384	38858384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ctcaaggactacagtgaggaCgaaatctaccgcttcaacag	9	11	3	1	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			Somatic				CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D	p.D966D	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	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	27	388	---	---	---	---	T	38858384	C	T	38858384	2	4	173	1	0	0	0	0	0	0	0	1	2692	535	19	2		2	CATSPERG	19	38858384	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7922006	38858384	20270599	39	7780										
CNTD2	79935	broad.mit.edu	37	chr19	40730407	40730407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.308161708619375	NA	0.308161708619375	1	1	0	ggaagtacctcgggaagcacGcactcttccattttgcacgc	10	13	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.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			Somatic				CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C	p.C167C	NM_024877.3	NP_079153.2	WXS	Illumina GAIIx	Phase_I	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	9	486	---	---	---	---	A	40730407	G	A	40730407	2	1	173	1	0	0	0	0	0	0	0	1	3636	1079	38	2		2	CNTD2	19	40730407	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1872023	40730407	18398576	40	7781										
STIL	6491	broad.mit.edu	37	chr1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	ctgtattaatatggagaaggCtgaatgggtcacaattattt	10	4	1	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.chr1:47717391C>A	ENST00000360380.3	-	18	3644	c.3281G>T	c.(3280-3282)aGc>aTc	p.S1094I	STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000337817.5_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		Somatic				STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I|STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I	p.S1094I	NM_001282936.1	NP_001269865.1	WXS	Illumina GAIIx	Phase_I	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	9	209	---	---	---	---	A	47717391	C	A	47717391	3	1	174	1	0	0	0	0	1	0	0	0	15281	797	28	3	586	3	STIL	1	47717391	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		47717391	201533230	1	7782										
RPAP2	79871	broad.mit.edu	37	chr1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	atgagtctttaccttttaggGgctcaggtacagccattaaa	9	8	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.chr1:92789789G>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																																						ENST00000610020.1																			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		Somatic					p.G438R	NM_024813.2	NP_079089.2	WXS	Illumina GAIIx	Phase_I	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)						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	23	74	---	---	---	---	C	92789789	G	C	92789789	3	2	174	1	0	0	0	0	1	0	0	0	13542	1232	43	4	1342	4	RPAP2	1	92789789	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	45072398	92789789	156460832	2	7783										
CACNA1E	777	broad.mit.edu	37	chr1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	gcaggtctgccagccaggaaCgcagtctggatgaagccatg	14	11	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.chr1:181702058C>T	ENST00000367573.2	+	20	2836	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R927C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C	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		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C	p.R927C	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	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	25	99	---	---	---	---	T	181702058	C	T	181702058	3	4	174	1	0	0	0	0	1	0	0	0	2542	536	19	2	2914	2	CACNA1E	1	181702058	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	88912269	181702058	67548563	3	7784										
PPIG	9360	broad.mit.edu	37	chr2	170493058	170493058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	aagaaagttaaagaccataaAtctaacagcaaagagagaga	8	5	1	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.chr2:170493058A>G	ENST00000260970.3	+	14	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_ENST00000409714.3_Silent_p.K415K|PPIG_ENST00000448752.2_Silent_p.K430K|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			Somatic				PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000409714.3_Silent_p.K415K	p.K430K	NM_004792.2	NP_004783.2	WXS	Illumina GAIIx	Phase_I	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	11	32	---	---	---	---	G	170493058	A	G	170493058	2	3	174	1	0	0	0	0	0	0	0	1	12324	98	4	2		2	PPIG	2	170493058	Silent	SNP	A	TCGA-HC-7748-01A-11D-2114-08		170493058	72706315	4	7785										
NRP2	8828	broad.mit.edu	37	chr2	206641226	206641226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	accctaaccattaagctagaGcaagaccgtggctcgcactg	9	13	0	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.chr2:206641226G>A	ENST00000357118.4	+	16	2713	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.E899E|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Intron	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			Somatic	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_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000272849.3_Silent_p.E899E	p.E894E	NM_201267.1	NP_957719	WXS	Illumina GAIIx	Phase_I	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	9	117	---	---	---	---	A	206641226	G	A	206641226	2	1	174	1	0	0	0	0	0	0	0	1	10661	962	34	2		2	NRP2	2	206641226	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	36148168	206641226	36558147	5	7786										
ZNF502	91392	broad.mit.edu	37	chr3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	ttgagaaaagcttgcttttgAcctcaagccttgttacacgt	8	9	1	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.chr3:44762640A>G	ENST00000296091.4	+	4	587	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_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		Somatic				ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A|ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A	p.T111A	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	WXS	Illumina GAIIx	Phase_I	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	7	92	---	---	---	---	G	44762640	A	G	44762640	3	3	174	1	0	0	0	0	1	0	0	0	17947	275	10	2	337	2	ZNF502	3	44762640	Missense_Mutation	SNP	A	TCGA-HC-7748-01A-11D-2114-08		44762640	153259790	6	7787										
CNGA1	1259	broad.mit.edu	37	chr4	47938768	47938768	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	tactcagttagagcttccatGaggtcatcttttgagagaca	9	8	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.chr4:47938768G>C	ENST00000514170.1	-	11	2062	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000402813.3_Silent_p.L650L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000544810.1_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			Somatic				CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L	p.L650L			WXS	Illumina GAIIx	Phase_I	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	56	161	---	---	---	---	C	47938768	G	C	47938768	2	2	174	1	0	0	0	0	0	0	0	1	3596	1277	45	4		4	CNGA1	4	47938768	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08		47938768	143215508	7	7788										
LPHN3	23284	broad.mit.edu	37	chr4	62903460	62903460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	attggctaggtacgaaaagaGtatgggaaatgcctgcgaac	13	6	0	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.chr4:62903460G>A	ENST00000514591.1	+	23	3728	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000512091.2_Silent_p.E1133E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E			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																																						ENST00000512091.2																			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			Somatic				LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000504896.1_Silent_p.E1133E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E	p.E1133E			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			23	4146	+								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	5	64	---	---	---	---	A	62903460	G	A	62903460	2	1	174	1	0	0	0	0	0	0	0	1	8917	1020	36	2		2	LPHN3	4	62903460	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	14964692	62903460	128250816	8	7789										
ADAMTS16	170690	broad.mit.edu	37	chr5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	cgcagaccacaccttaagtaGcttctgccagtggcagtctg	10	13	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.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		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	p.S364N	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	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	20	79	---	---	---	---	A	5190127	G	A	5190127	3	1	174	1	0	0	0	0	1	0	0	0	261	971	34	2	1117	2	ADAMTS16	5	5190127	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		5190127	175725133	9	7790										
FAM105A	54491	broad.mit.edu	37	chr5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	TTGA	-													0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	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)gttgatfs		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		Somatic					p.VD94fs	NM_019018.2	NP_061891.1	WXS	Illumina GAIIx	Phase_I	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	174	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	10	7791										
UBD	10537	broad.mit.edu	37	chr6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	catcactgggcttcaccactTtcagggtaaggtggatggtc	12	10	3	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.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		Somatic				GABBR1_ENST00000355973.3_3'UTR	p.K79R	NM_006398.3	NP_006389.2	WXS	Illumina GAIIx	Phase_I	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	13	41	---	---	---	---	C	29523919	T	C	29523919	3	2	174	1	0	0	0	0	1	0	0	0	16840	1841	64	2	265	2	UBD	6	29523919	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		29523919	141591148	11	7792										
TRIM4	89122	broad.mit.edu	37	chr7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	tgaaaactccgtgctgattcTcattcgctgactctttatct	6	11	3	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.chr7:99506411T>C	ENST00000355947.2	-	4	721	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_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		Somatic				TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G	p.R198G	NM_033017.3	NP_148977.2	WXS	Illumina GAIIx	Phase_I	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	32	93	---	---	---	---	C	99506411	T	C	99506411	3	2	174	1	0	0	0	0	1	0	0	0	16511	1559	54	2	926	2	TRIM4	7	99506411	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		99506411	59632252	12	7793										
CA3	761	broad.mit.edu	37	chr8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	tgatggtggctctgccaagaCcatcctgaataatgggaaga	12	8	1	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.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		Somatic					p.T58N	NM_005181.3	NP_005172.1	WXS	Illumina GAIIx	Phase_I	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	5	73	---	---	---	---	A	86352079	C	A	86352079	3	1	174	1	0	0	0	0	1	0	0	0	2517	507	18	3	179	3	CA3	8	86352079	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		86352079	60011943	13	7794										
TYRP1	7306	broad.mit.edu	37	chr9	12698502	12698502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	cttactggaattttgcaacgGggaaaaatgtctgtgatatc	10	6	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.chr9:12698502G>T	ENST00000388918.5	+	4	889	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	TYRP1_ENST00000381137.2_Intron|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	254					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)		TTTTGCAACGGGGAAAAATGT	0.408									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(760-762)Ggg>Tgg		tyrosinase-related protein 1							118	113	115					9																	12698502		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.chr9:12698502G>T	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.760G>T	9.37:g.12698502G>T	ENSP00000373570:p.Gly254Trp		Somatic				TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	p.G254W	NM_000550.2	NP_000541.1	WXS	Illumina GAIIx	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	889	+		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)	254					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.760G>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790801	0.90367	.	.	ENSG00000107165	ENST00000388918	D	0.98889	-5.21	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99414	1.0931	10	0.87932	D	0	-4.1194	20.6439	0.99570	0.0:0.0:1.0:0.0	.	254	P17643	TYRP1_HUMAN	W	254	ENSP00000373570:G254W	ENSP00000373570:G254W	G	+	1	0	TYRP1	12688502	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	GGG		0.408	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		4	65	4	65	---	---	---	---	T	12698502	G	T	12698502	3	4	174	1	0	0	0	0	1	0	0	0	16813	1232	43	1	770	1	TYRP1	9	12698502	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		12698502	128514929	14	7795										
FOXJ2	55810	broad.mit.edu	37	chr12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	caactttcaggatctaagctGgtccttccgcaacctctata	6	13	3	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.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		Somatic				FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	p.W253S	NM_018416.2	NP_060886.1	WXS	Illumina GAIIx	Phase_I	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	40	156	---	---	---	---	C	8197495	G	C	8197495	3	2	174	1	0	0	0	0	1	0	0	0	6012	1357	47	4	776	4	FOXJ2	12	8197495	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		8197495	125654400	15	7796										
KSR2	283455	broad.mit.edu	37	chr12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	ctgggaagatgaactgctgcTtgtatttgtagtagtgggat	14	4	0	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.chr12:117969491T>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		Somatic				KSR2_ENST00000339824.5_Missense_Mutation_p.K570T|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000545002.1_5'UTR	p.K541T	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	G	117969491	T	G	117969491	3	3	174	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	109771996	117969491	15882404	16	7797										
GPR109A	338442	broad.mit.edu	37	chr12	123186916	123186916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	cagcggttgatcaaagtggaGaagaagttgggaaaggatgg	17	3	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.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			Somatic				HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	p.F305F	NM_177551.3	NP_808219.1	WXS	Illumina GAIIx	Phase_I	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	17	61	---	---	---	---	A	123186916	G	A	123186916	2	1	174	1	0	0	0	0	0	0	0	1	6625	933	33	2		2	GPR109A	12	123186916	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	5217425	123186916	10664979	17	7798										
SIAH3	283514	broad.mit.edu	37	chr13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	ggggcaccaccacctccaggCggccttcccactggcaggag	13	17	0	0	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		Somatic					p.R119H	NM_198849.2	NP_942146.2	WXS	Illumina GAIIx	Phase_I	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	18	62	---	---	---	---	T	46357972	C	T	46357972	3	4	174	1	0	0	0	0	1	0	0	0	14301	768	27	2	457	2	SIAH3	13	46357972	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		46357972	68811906	18	7799										
ALDH1A3	220	broad.mit.edu	37	chr15	101425525	101425525	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	agtgggaaaaagtttgctacAtgtaacccttcaactcggga	10	8	1	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.chr15:101425525A>C	ENST00000329841.5	+	2	685	c.153A>C	c.(151-153)acA>acC	p.T51T	ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|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			Somatic				ALDH1A3_ENST00000346623.6_Silent_p.T51T|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR	p.T51T	NM_000693.2	NP_000684.2	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	C	101425525	A	C	101425525	2	2	174	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	19	7800										
EPHX3	79852	broad.mit.edu	37	chr19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	ggatccaatgccctatgcctGgcaggatgtgggcctccaag	13	12	0	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.chr19:15338333G>T	ENST00000221730.3	-	7	1218	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000602233.1_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		Somatic				EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q	p.P333Q	NM_024794.2	NP_079070.1	WXS	Illumina GAIIx	Phase_I	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	16	57	---	---	---	---	T	15338333	G	T	15338333	3	4	174	1	0	0	0	0	1	0	0	0	5181	1348	47	1	88	1	EPHX3	19	15338333	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		15338333	43790650	20	7801										
LSR	51599	broad.mit.edu	37	chr19	35757262	35757262	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	tgttgattgtgtcctcacagTgtatgccgccggcaaagcag	12	10	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.chr19:35757262T>C	ENST00000361790.3	+	6	1082	c.923T>C	c.(922-924)cTg>cCg	p.L308P	USF2_ENST00000594064.1_5'Flank|LSR_ENST00000360798.3_Splice_Site_p.V240A|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Splice_Site_p.M152T|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000354900.3_Splice_Site_p.L289P|LSR_ENST00000602122.1_Splice_Site_p.L289P|LSR_ENST00000347609.4_Splice_Site_p.L271P|USF2_ENST00000222305.3_5'Flank	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.(865-867)cTg>cCg		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			Somatic				LSR_ENST00000347609.4_Splice_Site_p.L271P|LSR_ENST00000354900.3_Splice_Site_p.L289P|LSR_ENST00000360798.3_Splice_Site_p.V240A|LSR_ENST00000361790.3_Splice_Site_p.L308P|LSR_ENST00000427250.1_Splice_Site_p.M152T	p.L289P			WXS	Illumina GAIIx	Phase_I	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.866T>C	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	29	100	---	---	---	---	C	35757262	T	C	35757262	5	2	174	1	0	0	0	0	0	0	1	0	9064	1710	59	2	945	2	LSR	19	35757262	Splice_Site	SNP	T	TCGA-HC-7748-01A-11D-2114-08	20418929	35757262	23371721	21	7802										
ZCCHC3	85364	broad.mit.edu	37	chr20	279007	279007	+	Frame_Shift_Del	DEL	C	C	-													0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	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)ttcfs		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		Somatic					p.F260fs	NM_033089.6	NP_149080	WXS	Illumina GAIIx	Phase_I	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	174	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	22	7803										
CST5	1473	broad.mit.edu	37	chr20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	gaccttgttgtactcgctgaTggcaaagtccagggcacact	11	11	0	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.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		Somatic					p.I52V	NM_001900.4	NP_001891.2	WXS	Illumina GAIIx	Phase_I	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	8	244	---	---	---	---	C	23860160	T	C	23860160	3	2	174	1	0	0	0	0	1	0	0	0	3975	1464	51	2	286	2	CST5	20	23860160	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08	23581153	23860160	39165360	23	7804										
SLC12A5	57468	broad.mit.edu	37	chr20	44672552	44672552	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	2	1	1.5668549905838	2.35028248587571	1.17514124293785	1	1	0	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																																						ENST00000243964.3																			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.(1372-1374)gagfs		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		Somatic				SLC12A5_ENST00000454036.2_Frame_Shift_Del_p.E481fs	p.E458fs	NM_020708.4	NP_065759.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			11	1472	+		Myeloproliferative disorder(115;0.0122)	481					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Del	DEL	ENST00000454036.2	37	c.1374delG	CCDS46610.1																																																																																				0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			8	187	8	187	---	---	---	---	-	44672552	G	-	44672552	7	5	174	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	24	7805										
ASTN1	460	broad.mit.edu	37	chr1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gcaccaaagggatatcctctGtgttccctgagatctctaga	9	11	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.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_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																																						ENST00000367654.3																			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		Somatic				ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR	p.T100R	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			2	510	-								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	3	148	---	---	---	---	C	177030386	G	C	177030386	3	2	175	1	0	0	0	0	1	0	0	0	1064	1377	48	4	3677	4	ASTN1	1	177030386	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		177030386	72220235	1	7806										
HEATR5B	54497	broad.mit.edu	37	chr2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T													0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	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|HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs|GPATCH11_ENST00000409774.1_5'Flank|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)aaagtcfs		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		Somatic				HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs	p.V36fs	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			2	200_201	-		all_hematologic(82;0.21)	36					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	175	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	2	7807										
RIF1	55183	broad.mit.edu	37	chr2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	attctgataccctcttcactAttggcaactcaatcaccggc	5	14	5	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.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_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																																						ENST00000243326.5																			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		Somatic				RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V	p.I830V			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2971	+								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	3	137	---	---	---	---	G	152311552	A	G	152311552	3	3	175	1	0	0	0	0	1	0	0	0	13359	449	16	2	2570	2	RIF1	2	152311552	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08	115001100	152311552	90887821	3	7808										
TTN	7273	broad.mit.edu	37	chr2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	caaggtcaatgccctgcttgCtccacgttatgacaggaggt	11	11	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.chr2:179408725C>T	ENST00000591111.1	-	296	91447	c.91223G>A	c.(91222-91224)aGc>aAc	p.S30408N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|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.S23109N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S32049N|TTN-AS1_ENST00000585451.1_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		Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.S32049N	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	27	132	---	---	---	---	T	179408725	C	T	179408725	3	4	175	1	0	0	0	0	1	0	0	0	16732	797	28	2	11901	2	TTN	2	179408725	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	27097173	179408725	63790648	4	7809										
ORMDL1	94101	broad.mit.edu	37	chr2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ccttgctttaccctggtcagGagtttcgaaaggtgttcctt	10	10	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.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000496543.1_5'Flank|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T			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		Somatic				ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T	p.P75T			WXS	Illumina GAIIx	Phase_I	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	21	51	---	---	---	---	T	190640394	G	T	190640394	3	4	175	1	0	0	0	0	1	0	0	0	11269	1174	41	3	246	3	ORMDL1	2	190640394	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	11231669	190640394	52558979	5	7810										
CAMK1	8536	broad.mit.edu	37	chr3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	cagcatccagcacctggaagAtgaggcggctggcgtcccgc	14	14	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.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_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		Somatic				OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	p.I122N	NM_003656.4	NP_003647.1	WXS	Illumina GAIIx	Phase_I	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	16	35	---	---	---	---	T	9804662	A	T	9804662	3	4	175	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	6	7811										
TMPRSS7	344805	broad.mit.edu	37	chr3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ccatgcaacaacagaactttTaagtgtggcaatgatatttg	8	7	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.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		Somatic				TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L	p.F564L			WXS	Illumina GAIIx	Phase_I	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	8	92	---	---	---	---	A	111793168	T	A	111793168	3	1	175	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	101988506	111793168	86229262	7	7812										
ITGB5	3693	broad.mit.edu	37	chr3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gataggataccccatcttggCaggtagcagtaaagaagaga	12	7	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.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		Somatic					p.C401S	NM_002213.3	NP_002204.2	WXS	Illumina GAIIx	Phase_I	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	22	129	---	---	---	---	G	124527930	C	G	124527930	3	3	175	1	0	0	0	0	1	0	0	0	7898	710	25	4	1225	4	ITGB5	3	124527930	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	12734762	124527930	73494500	8	7813										
UROC1	131669	broad.mit.edu	37	chr3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gggcgacccaggtggctccgCgacaggcatctcccacgaag	14	15	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		Somatic				UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	p.R582H	NM_144639.2	NP_653240.1	WXS	Illumina GAIIx	Phase_I	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	6	175	---	---	---	---	T	126207086	C	T	126207086	3	4	175	1	0	0	0	0	1	0	0	0	17025	768	27	2	297	2	UROC1	3	126207086	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	1679156	126207086	71815344	9	7814										
TRIM42	287015	broad.mit.edu	37	chr3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ccctgaaggagactggccagGtggcattcctgcagtcagcc	13	13	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.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		Somatic					p.V440M	NM_152616.4	NP_689829.3	WXS	Illumina GAIIx	Phase_I	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	6	57	---	---	---	---	A	140406842	G	A	140406842	3	1	175	1	0	0	0	0	1	0	0	0	16514	1261	44	2	1328	2	TRIM42	3	140406842	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	14199756	140406842	57615588	10	7815										
KLHL6	89857	broad.mit.edu	37	chr3	183273149	183273149	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ctggtcctaggcatgctgacCtgaaatagttgctggctgcg	13	10	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.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.(292-294)aGg>aCg		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			Somatic					p.R98T	NM_130446.2	NP_569713.2	WXS	Illumina GAIIx	Phase_I	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.293G>C	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	7	94	---	---	---	---	G	183273149	C	G	183273149	5	3	175	1	0	0	0	0	0	0	1	0	8393	695	24	4	1600	4	KLHL6	3	183273149	Splice_Site	SNP	C	TCGA-HC-7749-01A-11D-2114-08	42866307	183273149	14749281	11	7816										
PPP3CA	5530	broad.mit.edu	37	chr4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gtaatttggtgctgaaaaaaTtgtaattagagaagggaagc	12	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.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F	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		Somatic				PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron	p.I305F	NM_000944.4	NP_000935.1	WXS	Illumina GAIIx	Phase_I	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	23	35	---	---	---	---	A	102001731	T	A	102001731	3	1	175	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		102001731	89152545	12	7817										
ESM1	11082	broad.mit.edu	37	chr5	54281325	54281325	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gcaggcacgaggagcgtggtCagcagcaagacgctcttcat	14	11	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.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.L7L	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			Somatic				ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	p.L7L	NM_007036.4	NP_008967.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	G	54281325	C	G	54281325	2	3	175	1	0	0	0	0	0	0	0	1	5252	813	29	4		4	ESM1	5	54281325	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08		54281325	126633935	13	7818										
SYNPO	11346	broad.mit.edu	37	chr5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gcctgagaacggggtcctgcGcccagagcccaccaagcagc	13	16	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.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	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		Somatic				SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	p.R800H	NM_001166208.1	NP_001159680.1	WXS	Illumina GAIIx	Phase_I	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	32	160	---	---	---	---	A	150029504	G	A	150029504	3	1	175	1	0	0	0	0	1	0	0	0	15453	1087	38	2	2405	2	SYNPO	5	150029504	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	95748179	150029504	30885756	14	7819										
DDX43	55510	broad.mit.edu	37	chr6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ttgaaatggcaaaaaacaaaGtgggcaggtcagtgctgctt	12	6	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.chr6:74111706G>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		Somatic				DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	p.K187N	NM_018665.2	NP_061135.2	WXS	Illumina GAIIx	Phase_I	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	52	80	---	---	---	---	C	74111706	G	C	74111706	3	2	175	1	0	0	0	0	1	0	0	0	4363	1020	36	4	575	4	DDX43	6	74111706	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		74111706	97003361	15	7820										
MDFIC	29969	broad.mit.edu	37	chr7	114655934	114655934	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	catggatgcctgttgtgaatCatcagactgcttggaaatct	10	8	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.chr7:114655934C>A	ENST00000393486.1	+	5	1276	c.686C>A	c.(685-687)tCa>tAa	p.S229*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.S338*	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						TGTTGTGAATCATCAGACTGC	0.408																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1012-1014)tCa>tAa		MyoD family inhibitor domain containing							284	252	263					7																	114655934		2203	4300	6503	SO:0001587	stop_gained	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.chr7:114655934C>A	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.686C>A	7.37:g.114655934C>A	ENSP00000377126:p.Ser229*		Somatic				MDFIC_ENST00000393486.1_Nonsense_Mutation_p.S229*	p.S338*			WXS	Illumina GAIIx	Phase_I	Q9P1T7	MDFIC_HUMAN			5	1276	+			229						Nonsense_Mutation	SNP	ENST00000393486.1	37	c.1013C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	38	6.779567	0.97833	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1559	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	338;229	.	ENSP00000257724:S338X	S	+	2	0	MDFIC	114443170	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	TCA		0.408	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		4	170	4	170	---	---	---	---	A	114655934	C	A	114655934	4	1	175	1	0	0	0	0	0	1	0	0	9405	838	29	3	1073	3	MDFIC	7	114655934	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		114655934	44482729	16	7821										
CSMD1	64478	broad.mit.edu	37	chr8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gtcaccttgaaaagtaaatcCtcctctttcaagtccagatg	6	11	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.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*			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*		Somatic				CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*	p.G3448*			WXS	Illumina GAIIx	Phase_I	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	14	32	---	---	---	---	A	2806884	C	A	2806884	4	1	175	1	0	0	0	0	0	1	0	0	3944	690	24	1	367	1	CSMD1	8	2806884	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		2806884	143557138	17	7822										
CENPP	401541	broad.mit.edu	37	chr9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	actgcttggaatcgaagctgCtctggaaagcctgataaaat	10	8	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.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	IPPK_ENST00000486841.1_5'Flank|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V	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		Somatic				CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	p.A274V	NM_001012267.1	NP_001012267.1	WXS	Illumina GAIIx	Phase_I	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	46	102	---	---	---	---	T	95375385	C	T	95375385	3	4	175	1	0	0	0	0	1	0	0	0	3240	797	28	2	851	2	CENPP	9	95375385	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		95375385	45838046	18	7823										
XPA	7507	broad.mit.edu	37	chr9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	tttatcaaatttcttctgttTcattttttctcggttttcct	3	8	5	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.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*		Somatic					p.K215*	NM_000380.3	NP_000371.1	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	A	100447235	T	A	100447235	4	1	175	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	19	7824										
IPMK	253430	broad.mit.edu	37	chr10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gccaagcaccaagaacccaaTctcttccattaatgggtact	6	13	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.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		Somatic					p.I174V	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	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	39	85	---	---	---	---	C	59975932	T	C	59975932	3	2	175	1	0	0	0	0	1	0	0	0	7792	1435	50	2	742	2	IPMK	10	59975932	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08		59975932	75558815	20	7825										
TLX1NB	100038246	broad.mit.edu	37	chr10	102849597	102849597	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	cccatggcctcttgggaaagGagagagtgctgacttgccca	13	11	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			Somatic					p.L22L	NM_001085398.1	NP_001078867.1	WXS	Illumina GAIIx	Phase_I	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	8	11	---	---	---	---	A	102849597	G	A	102849597	2	1	175	1	0	0	0	0	0	0	0	1	15957	1161	41	2		2	TLX1NB	10	102849597	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08	42873665	102849597	32685150	21	7826										
MMP3	4314	broad.mit.edu	37	chr11	102710883	102710883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	cccctcagagtgctgacagcAtcaaaggacaaagcaggatc	10	12	2	2	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			Somatic					p.D297D	NM_002422.3	NP_002413.1	WXS	Illumina GAIIx	Phase_I	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	4	134	---	---	---	---	G	102710883	A	G	102710883	2	3	175	1	0	0	0	0	0	0	0	1	9666	214	8	2		2	MMP3	11	102710883	Silent	SNP	A	TCGA-HC-7749-01A-11D-2114-08		102710883	32295633	22	7827										
SIAE	54414	broad.mit.edu	37	chr11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ggtcactttcttcatgatggTttcctgaccttggcgcaggg	12	10	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.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P|SIAE_ENST00000525730.1_5'Flank			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		Somatic	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			WXS	Illumina GAIIx	Phase_I	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	28	64	---	---	---	---	G	124539286	T	G	124539286	3	3	175	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	23	7828										
SLITRK1	114798	broad.mit.edu	37	chr13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gggggcttcgcagaccactcGgccgatcagggcattcttgg	15	12	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.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*		Somatic					p.R238*	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	WXS	Illumina GAIIx	Phase_I	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	11	68	---	---	---	---	A	84454931	G	A	84454931	4	1	175	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	24	7829										
CDH24	64403	broad.mit.edu	37	chr14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	tgatgttctctcggacgtccTcctcctccagtaccatcagt	7	15	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.chr14:23517622T>C	ENST00000267383.5	-	12	2119	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000397359.3_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR			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		Somatic				CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G	p.E676G	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	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	4	167	---	---	---	---	C	23517622	T	C	23517622	3	2	175	1	0	0	0	0	1	0	0	0	3109	1551	54	2	436	2	CDH24	14	23517622	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08		23517622	83831918	25	7830										
CGNL1	84952	broad.mit.edu	37	chr15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ccaatcttcagctcagcaacCggcggctggagcggaaagtg	13	12	3	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.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		Somatic					p.R1177W	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	T	57837818	C	T	57837818	3	4	175	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	26	7831										
XYLT1	64131	broad.mit.edu	37	chr16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T													0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	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)aaagtcfs		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		Somatic					p.V724fs	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			10	2253_2254	-			724					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	175	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	27	7832										
MYH4	4622	broad.mit.edu	37	chr17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	aagttgcacacgttcactggCatccagaagctcttgctctg	9	12	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.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	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	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		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.A1713T	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	41	66	---	---	---	---	T	10350362	C	T	10350362	3	4	175	1	0	0	0	0	1	0	0	0	10037	710	25	2	706	2	MYH4	17	10350362	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		10350362	70844848	28	7833										
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	tccacagcggcaggatttgtCagaggagcagatggtggtgg	17	7	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.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		Somatic					p.D23H	NM_033185.2	NP_149441.1	WXS	Illumina GAIIx	Phase_I	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	9	156	---	---	---	---	G	39150283	C	G	39150283	3	3	175	1	0	0	0	0	1	0	0	0	8547	826	29	4	233	4	KRTAP3-3	17	39150283	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	28799921	39150283	42044927	29	7834										
IMPACT	55364	broad.mit.edu	37	chr18	22008832	22008832	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gtttttgaacctgcattgtaGgtgatgctgccgaatgaata	11	6	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.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			Somatic						NM_018439.3	NP_060909	WXS	Illumina GAIIx	Phase_I	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	6	50	---	---	---	---	A	22008832	G	A	22008832	5	1	175	1	0	0	0	0	0	0	1	0	7724	1014	35	2	175	2	IMPACT	18	22008832	Splice_Site	SNP	G	TCGA-HC-7749-01A-11D-2114-08		22008832	56068416	30	7835										
ZNF317	57693	broad.mit.edu	37	chr19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	catgaggattcacatcgtcaAgaaacccgtggaatgtcggc	11	10	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.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		Somatic				ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	p.K415R	NM_020933.4	NP_065984.3	WXS	Illumina GAIIx	Phase_I	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	24	42	---	---	---	---	G	9271565	A	G	9271565	3	3	175	1	0	0	0	0	1	0	0	0	17832	72	3	2	1266	2	ZNF317	19	9271565	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		9271565	49857418	31	7836										
MAST1	22983	broad.mit.edu	37	chr19	12978320	12978320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	atggagcagctgtcgcagcaCgagcccaagaccccagtagc	12	14	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.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			Somatic					p.H724H	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	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	5	126	---	---	---	---	T	12978320	C	T	12978320	2	4	175	1	0	0	0	0	0	0	0	1	9324	535	19	2		2	MAST1	19	12978320	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	3706755	12978320	46150663	32	7837										
CPAMD8	27151	broad.mit.edu	37	chr19	17122423	17122423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	tcggtgctggggtctgtacaCaggcttgtccgtctggatga	15	9	2	1	rs201463563	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.chr19:17122423C>A	ENST00000443236.1	-	4	584	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	138						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						GGTCTGTACACAGGCTTGTCC	0.637													C|||	15	0.00299521	0	0	5008	,	,		14175	0		0	False		,,,				2504	0.0153					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.(553-555)Gtg>Ttg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C	LEU/VAL	1,3857		0,1,1928	90	94	93		553	0.5	0.9	19		93	2,8276		0,2,4137	yes	missense	CPAMD8	NM_015692.2	32	0,3,6065	AA,AC,CC		0.0242,0.0259,0.0247	benign	185/1933	17122423	3,12133	1929	4139	6068	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122423C>A	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.553G>T	19.37:g.17122423C>A	ENSP00000402505:p.Val185Leu		Somatic				CPAMD8_ENST00000388925.4_Missense_Mutation_p.V138L|CTD-2528A14.1_ENST00000595134.1_RNA	p.V185L	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			4	584	-			138					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.553G>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	3.022	-0.201563	0.06219	2.59E-4	2.42E-4	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.71461	-0.57;-0.57	3.06	0.509	0.16977	Alpha-2-macroglobulin, N-terminal (1);	0.230467	0.26673	U	0.023086	T	0.52948	0.1766	L	0.39467	1.215	0.24548	N	0.994036	B	0.20550	0.046	B	0.22601	0.04	T	0.34428	-0.9829	10	0.37606	T	0.19	.	3.2353	0.06762	0.1707:0.551:0.1677:0.1107	.	138	Q8IZJ3	CPMD8_HUMAN	L	185;138	ENSP00000291440:V185L;ENSP00000373577:V138L	ENSP00000291440:V185L	V	-	1	0	CPAMD8	16983423	0.050000	0.20438	0.897000	0.35233	0.409000	0.31022	0.210000	0.17455	1.281000	0.44480	0.591000	0.81541	GTG		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	173	5	173	---	---	---	---	A	17122423	C	A	17122423	3	1	175	1	0	0	0	0	1	0	0	0	3795	478	17	3	5401	3	CPAMD8	19	17122423	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	4144103	17122423	42006560	33	7838										
IFI30	10437	broad.mit.edu	37	chr19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	gcgggggcccctgaagaagtCcaatgcaccgcttgtcaatg	13	12	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.chr19:18285887C>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																																						ENST00000407280.3																			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		Somatic				PIK3R2_ENST00000593731.1_3'UTR	p.S57Y	NM_006332.3	NP_006323.2	WXS	Illumina GAIIx	Phase_I	P13284	GILT_HUMAN			2	345	+								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	13	31	---	---	---	---	A	18285887	C	A	18285887	3	1	175	1	0	0	0	0	1	0	0	0	7515	855	30	3	176	3	IFI30	19	18285887	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	1163464	18285887	40843096	34	7839										
TRIM28	10155	broad.mit.edu	37	chr19	59059687	59059687	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	ttccagctgcaccgggccctCaagatgattgtggatcccgt	11	13	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			Somatic				TRIM28_ENST00000341753.6_Silent_p.L294L	p.L376L	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	G	59059687	C	G	59059687	2	3	175	1	0	0	0	0	0	0	0	1	16499	813	29	4		4	TRIM28	19	59059687	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	40773800	59059687	69296	35	7840										
OR13H1	347468	broad.mit.edu	37	chrX	130678204	130678204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.11133603238866	3.01648351648352	0	0.142857142857143	1	0	tctttcttattcactttgacCccaacctccacactccaatc	1	17	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.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		Somatic					p.P53S	NM_001004486.1	NP_001004486.1	WXS	Illumina GAIIx	Phase_I	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	70	49	---	---	---	---	T	130678204	C	T	130678204	3	4	175	1	0	0	0	0	1	0	0	0	10943	623	22	2	159	2	OR13H1	23	130678204	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		130678204	24592356	36	7841										
EPHA8	2046	broad.mit.edu	37	chr1	22924681	22924681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	gtgactgagtacatggagaaCggctctctggacaccttcct	11	11	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.chr1:22924681C>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			Somatic					p.N718N	NM_020526.3	NP_065387.1	WXS	Illumina GAIIx	Phase_I	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	4	137	---	---	---	---	T	22924681	C	T	22924681	2	4	176	1	0	0	0	0	0	0	0	1	5173	535	19	2		2	EPHA8	1	22924681	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		22924681	226325940	1	7842										
CAP1	5538	broad.mit.edu	37	chr1	40535451	40535451	+	IGR	DEL	T	T	-													0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	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_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372797.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|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)ttcfs		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			Somatic				CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs	p.F300fs	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	WXS	Illumina GAIIx	Phase_I	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	176	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	17610770	40535451	208715170	2	7843										
C1orf227	149643	broad.mit.edu	37	chr1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ccgggaagtgcctcttttgaActctcagtaagctgacttga	10	10	2	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.chr1:213009355A>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		Somatic					p.V46A	NM_001024601.2	NP_001019772.1	WXS	Illumina GAIIx	Phase_I	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	22	130	---	---	---	---	G	213009355	A	G	213009355	3	3	176	1	0	0	0	0	1	0	0	0	2033	43	2	2	167	2	C1orf227	1	213009355	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	172473904	213009355	36241266	3	7844										
TRMT61B	55006	broad.mit.edu	37	chr2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ttgagaatctagttgtacatCtgtgttgattttagattcta	8	4	3	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.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		Somatic					p.D416N	NM_017910.3	NP_060380.3	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	T	29074004	C	T	29074004	3	4	176	1	0	0	0	0	1	0	0	0	16567	913	32	2	199	2	TRMT61B	2	29074004	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		29074004	214125369	4	7845										
KLRAQ1	129285	broad.mit.edu	37	chr2	48718172	48718172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	tttagattgcatccttcttcAgcaacaatttggactacttc	5	10	2	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.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		Somatic				PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G	p.S488G	NM_001135629.2	NP_001129101.1	WXS	Illumina GAIIx	Phase_I	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	19	112	---	---	---	---	G	48718172	A	G	48718172	3	3	176	1	0	0	0	0	1	0	0	0	8413	188	7	2	1520	2	KLRAQ1	2	48718172	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	19644168	48718172	194481201	5	7846										
EIF2AK3	9451	broad.mit.edu	37	chr2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	attcttcatgagaaaacttaTcattactgagacatttgtca	5	7	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.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		Somatic				EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	p.D457G	NM_004836.5	NP_004827.4	WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	C	88887559	T	C	88887559	3	2	176	1	0	0	0	0	1	0	0	0	4998	1435	50	2	2020	2	EIF2AK3	2	88887559	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08	40169387	88887559	154311814	6	7847										
CCR2	729230	broad.mit.edu	37	chr3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	cacctttggggtggtgacaaGtgtgatcacctggttggtgg	16	7	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_ENST00000292301.4_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron|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		Somatic				CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron	p.S161I	NM_001123041.2	NP_001116513.2	WXS	Illumina GAIIx	Phase_I	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	5	253	---	---	---	---	T	46399500	G	T	46399500	3	4	176	1	0	0	0	0	1	0	0	0	2941	1029	36	3	484	3	CCR2	3	46399500	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		46399500	151622930	7	7848										
GPR150	285601	broad.mit.edu	37	chr5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ggccgcccagccgccgcgtcCgcctggtgttcctgggggtc	16	17	0	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.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		Somatic					p.R45G	NM_199243.1	NP_954713.1	WXS	Illumina GAIIx	Phase_I	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	6	25	---	---	---	---	G	94956112	C	G	94956112	3	3	176	1	0	0	0	0	1	0	0	0	6656	652	23	4	135	4	GPR150	5	94956112	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		94956112	85959148	8	7849										
FAT2	2196	broad.mit.edu	37	chr5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ataggaagacctgttgaagaGgggggcatggttgttgcagt	17	4	0	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.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		Somatic					p.L457F	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	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	4	135	---	---	---	---	A	150947124	G	A	150947124	3	1	176	1	0	0	0	0	1	0	0	0	5690	1000	35	2	11772	2	FAT2	5	150947124	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	55991012	150947124	29968136	9	7850										
PLEKHG1	57480	broad.mit.edu	37	chr6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	agaacagccccaaaacagaaGggcaggaggagatgactccc	12	11	0	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.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		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R	p.G639R	NM_001029884.1	NP_001025055.1	WXS	Illumina GAIIx	Phase_I	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	4	26	---	---	---	---	A	151152162	G	A	151152162	3	1	176	1	0	0	0	0	1	0	0	0	12068	1000	35	2	1969	2	PLEKHG1	6	151152162	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		151152162	19962905	10	7851										
CYP7A1	1581	broad.mit.edu	37	chr8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	tgaaatggacatattttcccAttagtttgcaggtaaaaaca	7	6	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.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		Somatic					p.M72T	NM_000780.3	NP_000771.2	WXS	Illumina GAIIx	Phase_I	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	33	134	---	---	---	---	G	59410894	A	G	59410894	3	3	176	1	0	0	0	0	1	0	0	0	4196	217	8	2	1319	2	CYP7A1	8	59410894	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08		59410894	86953128	11	7852										
KIAA1529	100499483	broad.mit.edu	37	chr9	100071830	100071830	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	gtgatgtctccccgacagcaGaagtggatgcacagcctccc	11	14	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.chr9:100071830G>A	ENST00000357054.1	+	17	1688	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.Q112Q|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000529487.1_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			Somatic				CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000357054.1_Silent_p.Q251Q|CCDC180_ENST00000529487.1_Silent_p.Q112Q|RP11-23J9.4_ENST00000534123.1_RNA	p.Q112Q			WXS	Illumina GAIIx	Phase_I					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	8	72	---	---	---	---	A	100071830	G	A	100071830	2	1	176	1	0	0	0	0	0	0	0	1	8240	933	33	2		2	KIAA1529	9	100071830	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		100071830	41141601	12	7853										
INVS	27130	broad.mit.edu	37	chr9	103055173	103055173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	caggtatctaaggagactgaTccagcacctggtcccctctc	9	14	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			Somatic				INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	p.D878D	NM_014425.3	NP_055240.2	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	C	103055173	T	C	103055173	2	2	176	1	0	0	0	0	0	0	0	1	7787	1432	50	2		2	INVS	9	103055173	Silent	SNP	T	TCGA-HC-7750-01A-11D-2114-08	2983343	103055173	38158258	13	7854										
MURC	347273	broad.mit.edu	37	chr9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	acagaattagaactagaataGtgaccccggagaggagagag	13	6	0	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.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		Somatic					p.V226L	NM_001018116.1	NP_001018126.1	WXS	Illumina GAIIx	Phase_I	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	5	177	---	---	---	---	T	103348314	G	T	103348314	3	4	176	1	0	0	0	0	1	0	0	0	9987	1029	36	3	682	3	MURC	9	103348314	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	293141	103348314	37865117	14	7855										
C10orf90	118611	broad.mit.edu	37	chr10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	aggcttacgaacttccagtgCttcctatgcaaagcaaagaa	8	10	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.chr10:128147783C>T	ENST00000284694.7	-	6	1843	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T	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		Somatic				C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T	p.A575T	NM_001004298.2	NP_001004298.2	WXS	Illumina GAIIx	Phase_I	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	4	72	---	---	---	---	T	128147783	C	T	128147783	3	4	176	1	0	0	0	0	1	0	0	0	1623	797	28	2	392	2	C10orf90	10	128147783	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		128147783	7386964	15	7856										
OR5T3	390154	broad.mit.edu	37	chr11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	aatggcttatgatcactatgTagccatctacaaccctctcc	5	13	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.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		Somatic					p.V154A	NM_001004747.1	NP_001004747.1	WXS	Illumina GAIIx	Phase_I	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	7	173	---	---	---	---	C	56020136	T	C	56020136	3	2	176	1	0	0	0	0	1	0	0	0	11183	1638	57	2	463	2	OR5T3	11	56020136	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08		56020136	78986380	16	7857										
OTUB1	55611	broad.mit.edu	37	chr11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ctgtgtctgccaagagcaagGaagacctggtgtcccagggc	14	11	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.chr11:63764357G>T	ENST00000538426.1	+	5	411	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|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*		Somatic				OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron	p.E123*	NM_017670.2	NP_060140.2	WXS	Illumina GAIIx	Phase_I	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	13	42	---	---	---	---	T	63764357	G	T	63764357	4	4	176	1	0	0	0	0	0	1	0	0	11311	1175	41	3	385	3	OTUB1	11	63764357	Nonsense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	7744221	63764357	71242159	17	7858										
KIAA0564	23078	broad.mit.edu	37	chr13	42404698	42404698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	gttcatcagacagttgcagcTcctcctttaaacgcatatac	6	12	2	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.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		Somatic				VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	p.E556A	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					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	10	47	---	---	---	---	G	42404698	T	G	42404698	3	3	176	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	18	7859										
GRIN2A	2903	broad.mit.edu	37	chr16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	tacatagttattgaggttatCcttctgccggttggccacaa	9	9	1	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.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_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y|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	2903				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		Somatic				GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y	p.D973Y	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	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	12	74	---	---	---	---	A	9858484	C	A	9858484	3	1	176	1	0	0	0	0	1	0	0	0	6779	855	30	3	1481	3	GRIN2A	16	9858484	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		9858484	80496269	19	7860										
MPP2	4355	broad.mit.edu	37	chr17	41957294	41957294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	tcagcctccatctccccacgGgacacaaagctgtaaccctg	7	17	2	0	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_ENST00000520305.1_Silent_p.S264S|MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000269095.4_Silent_p.S403S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000473246.1_5'Flank|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			Somatic	OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000520305.1_Silent_p.S264S	p.S403S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	WXS	Illumina GAIIx	Phase_I	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	3	114	---	---	---	---	A	41957294	G	A	41957294	2	1	176	1	0	0	0	0	0	0	0	1	9734	1219	43	2		2	MPP2	17	41957294	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		41957294	39237916	20	7861										
RAB37	326624	broad.mit.edu	37	chr17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	cagcttccagatccgagactAtgtagagtcccagaagaagc	10	11	0	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.chr17:72741504A>G	ENST00000392613.5	+	9	682	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	RAB37_ENST00000392614.4_Missense_Mutation_p.Y214C|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C|MIR3615_ENST00000585285.1_RNA	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		Somatic				RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C	p.Y214C	NM_001163989.1	NP_001157461.1	WXS	Illumina GAIIx	Phase_I	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	4	109	---	---	---	---	G	72741504	A	G	72741504	3	3	176	1	0	0	0	0	1	0	0	0	12927	449	16	2	963	2	RAB37	17	72741504	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	30784210	72741504	8453706	21	7862										
VAPA	9218	broad.mit.edu	37	chr18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ttgctccaccaaacacttcaGatatggaagctgtggtaagt	9	9	1	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.chr18:9936196G>C	ENST00000400000.2	+	3	577	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.D108H	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	C	9936196	G	C	9936196	3	2	176	1	0	0	0	0	1	0	0	0	17118	942	33	4	332	4	VAPA	18	9936196	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		9936196	68141052	22	7863										
PRX	57716	broad.mit.edu	37	chr19	40903197	40903197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	ctaaggcggggcatcttcagGgccacctcaggtgcctctcc	12	15	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.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			Somatic				PRX_ENST00000291825.7_3'UTR	p.A354A	NM_181882.2	NP_870998.2	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	A	40903197	G	A	40903197	2	1	176	1	0	0	0	0	0	0	0	1	12642	1219	43	2		2	PRX	19	40903197	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		40903197	18225786	23	7864										
ZIM2	23619	broad.mit.edu	37	chr19	57301240	57301240	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	cagaggaaagcctgactcacCtgggacccagcagatggcag	13	12	1	3	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_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_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.(475-477)caG>caA		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			Somatic				ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	p.Q159Q	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	WXS	Illumina GAIIx	Phase_I				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.477G>A	CCDS33123.1																																																																																				0.433	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		Silent	4	20	4	20	---	---	---	---	T	57301240	C	T	57301240	5	4	176	1	0	0	0	0	0	0	1	0	17681	695	24	2	1122	2	ZIM2	19	57301240	Splice_Site	SNP	C	TCGA-HC-7750-01A-11D-2114-08	16398043	57301240	1827743	24	7865										
SAPS2	9701	broad.mit.edu	37	chr22	50862022	50862022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	aaccaggagctctgccggctCaacacgatggacttactgct	10	13	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.chr22:50862022C>T	ENST00000216061.5	+	11	1474	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000359139.3_Silent_p.L368L			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			Somatic				PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000216061.5_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	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	T	50862022	C	T	50862022	2	4	176	1	0	0	0	0	0	0	0	1	13837	813	29	2		2	SAPS2	22	50862022	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		50862022	442544	25	7866										
MORF4L2	9643	broad.mit.edu	37	chrX	102931635	102931635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	0.968713181754189	1.93141797961075	3.13855421686747	1.71193866374589	0.485714285714286	1	0	gcctcctcactttcaacagtGgggtctgcccgggccctttt	10	15	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.chrX:102931635G>A	ENST00000441076.2	-	4	625	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000423833.2_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			Somatic				MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000492116.1_5'UTR	p.P107P			WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	A	102931635	G	A	102931635	2	1	176	1	0	0	0	0	0	0	0	1	9707	1335	47	2		2	MORF4L2	23	102931635	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		102931635	52338925	26	7867										
PADI1	29943	broad.mit.edu	37	chr1	17548935	17548935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	gacatggtcgtatctgtgggCacagccagtaaggaattaaa	12	7	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.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			Somatic					p.G81G	NM_013358.2	NP_037490.2	WXS	Illumina GAIIx	Phase_I	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	7	116	---	---	---	---	A	17548935	C	A	17548935	2	1	177	1	0	0	0	0	0	0	0	1	11377	697	25	3		3	PADI1	1	17548935	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08		17548935	231701686	1	7868										
DAB1	1600	broad.mit.edu	37	chr1	57535038	57535038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	caagcaattttatacctgatAaatgttttcttccgtttcgg	6	8	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.chr1:57535038A>G	ENST00000371231.1	-	7	692	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000371236.2_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron			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		Somatic				DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000439789.2_Intron	p.Y220H			WXS	Illumina GAIIx	Phase_I	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	4	143	---	---	---	---	G	57535038	A	G	57535038	3	3	177	1	0	0	0	0	1	0	0	0	4217	362	13	2	1037	2	DAB1	1	57535038	Missense_Mutation	SNP	A	TCGA-HC-7818-01A-11D-2114-08	39986103	57535038	191715583	2	7869										
RSAD2	91543	broad.mit.edu	37	chr2	7030377	7030377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	aagagaagcagaaagatttgTtattggtgatgaagaatttg	12	1	0	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.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		Somatic				RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	p.V270A	NM_080657.4	NP_542388.2	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	C	7030377	T	C	7030377	3	2	177	1	0	0	0	0	1	0	0	0	13695	1725	60	2	823	2	RSAD2	2	7030377	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		7030377	236168996	3	7870										
C2orf39	92749	broad.mit.edu	37	chr2	26672885	26672885	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ggttcctcatagagagcaagCtgctgagccttctcctgccc	10	14	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.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		Somatic					p.L511V	NM_145038.2	NP_659475.2	WXS	Illumina GAIIx	Phase_I					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	4	34	---	---	---	---	G	26672885	C	G	26672885	3	3	177	1	0	0	0	0	1	0	0	0	2164	796	28	4	1577	4	C2orf39	2	26672885	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	19642508	26672885	216526488	4	7871										
SESTD1	91404	broad.mit.edu	37	chr2	180008456	180008456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ctgtgcaagaagttcatcatCcataggagaccatgaaaccc	8	11	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.chr2:180008456C>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		Somatic					p.D238Y	NM_178123.4	NP_835224.3	WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	A	180008456	C	A	180008456	3	1	177	1	0	0	0	0	1	0	0	0	14127	855	30	3	1418	3	SESTD1	2	180008456	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	153335571	180008456	63190917	5	7872										
SETD2	29072	broad.mit.edu	37	chr3	47163454	47163454	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	agagagttagactgtccaccTttattcctggtggaagactc	10	9	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.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		Somatic					p.K891M	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	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	13	82	---	---	---	---	A	47163454	T	A	47163454	3	1	177	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	6	7873										
FABP2	2169	broad.mit.edu	37	chr4	120240226	120240226	+	Frame_Shift_Del	DEL	T	T	-													0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	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)gtafs		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		Somatic					p.V123fs	NM_000134.3	NP_000125.2	WXS	Illumina GAIIx	Phase_I	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	177	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		120240226	70914050	7	7874										
PCDHGC3	5098	broad.mit.edu	37	chr5	140857775	140857775	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ccttttatctacttctttctCtaatcctggtttctgtgggg	7	10	4	0	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	PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_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	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	5098							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		Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	p.L698V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			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	7	299	---	---	---	---	G	140857775	C	G	140857775	3	3	177	1	0	0	0	0	1	0	0	0	11569	912	32	4	2094	4	PCDHGC3	5	140857775	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		140857775	40057485	8	7875										
DAXX	1616	broad.mit.edu	37	chr6	33287278	33287278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	gaaggaagtagaagagaccaTgcctgctccattctctaaga	10	9	1	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	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V|DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	71	---	---	---	---	C	33287278	T	C	33287278	3	2	177	1	0	0	0	0	1	0	0	0	4243	1464	51	2	415	2	DAXX	6	33287278	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		33287278	137827789	9	7876										
C6orf72	116254	broad.mit.edu	37	chr6	149903651	149903651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	acgttttcccagtattctttCagtttttgaacatcatggtg	7	8	3	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.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		Somatic					p.Q265E	NM_138785.3	NP_620140.1	WXS	Illumina GAIIx	Phase_I					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	13	148	---	---	---	---	G	149903651	C	G	149903651	3	3	177	1	0	0	0	0	1	0	0	0	2371	827	29	4	819	4	C6orf72	6	149903651	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	116616373	149903651	21211416	10	7877										
CHCHD2	51142	broad.mit.edu	37	chr7	56172077	56172077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	acctggctgccggggcgcagCagcagaagagccaactgcag	15	13	0	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.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		Somatic					p.A48S	NM_016139.2	NP_057223.1	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	A	56172077	C	A	56172077	3	1	177	1	0	0	0	0	1	0	0	0	3316	710	25	3	325	3	CHCHD2	7	56172077	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		56172077	102966586	11	7878										
NRCAM	4897	broad.mit.edu	37	chr7	107816881	107816881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	catacccatcttaccttcatCcacagttgttactgcttcct	3	15	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.chr7:107816881C>A	ENST00000425651.2	-	24	3144	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y	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		Somatic				NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y	p.D1049Y			WXS	Illumina GAIIx	Phase_I	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	6	111	---	---	---	---	A	107816881	C	A	107816881	3	1	177	1	0	0	0	0	1	0	0	0	10644	855	30	3	827	3	NRCAM	7	107816881	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	51644804	107816881	51321782	12	7879										
ZHX1	11244	broad.mit.edu	37	chr8	124267245	124267245	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	gcttgagcagaaagaactgtAatttctgacattgttgggta	11	5	1	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.chr8:124267245A>G	ENST00000522655.1	-	3	1482	c.942T>C	c.(940-942)atT>atC	p.I314I	ZHX1_ENST00000395571.3_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1_ENST00000522595.1_5'Flank			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			Somatic				ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.I314I	p.I314I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	WXS	Illumina GAIIx	Phase_I	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	8	274	---	---	---	---	G	124267245	A	G	124267245	2	3	177	1	0	0	0	0	0	0	0	1	17672	358	13	2		2	ZHX1	8	124267245	Silent	SNP	A	TCGA-HC-7818-01A-11D-2114-08		124267245	22096777	13	7880										
CDH23	64072	broad.mit.edu	37	chr10	73565668	73565668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	tgaagactgcgggcaaccggGactgggagttcttcatcatc	13	10	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.chr10:73565668G>T	ENST00000224721.6	+	55	7998	c.7993G>T	c.(7993-7995)Gac>Tac	p.D2665Y	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y	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		Somatic				CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR	p.D2665Y	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	T	73565668	G	T	73565668	3	4	177	1	0	0	0	0	1	0	0	0	3108	1174	41	3	8541	3	CDH23	10	73565668	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		73565668	61969079	14	7881										
SLIT1	6585	broad.mit.edu	37	chr10	98806792	98806792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ttaaacatcccagtggcctcCaggatggaaatctcattgtt	8	10	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.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			Somatic				SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.L555L	NM_003061.2	NP_003052.2	WXS	Illumina GAIIx	Phase_I	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	5	53	---	---	---	---	T	98806792	C	T	98806792	2	4	177	1	0	0	0	0	0	0	0	1	14739	581	21	2		2	SLIT1	10	98806792	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08	25241124	98806792	36727955	15	7882										
PRMT3	10196	broad.mit.edu	37	chr11	20409624	20409624	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	aactgtcggacagcggggacGaggccgcctgggaggatgag	19	9	0	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.chr11:20409624G>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*		Somatic				PRMT3_ENST00000437750.2_Intron	p.E30*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	WXS	Illumina GAIIx	Phase_I	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	7	53	---	---	---	---	T	20409624	G	T	20409624	4	4	177	1	0	0	0	0	0	1	0	0	12538	1059	37	3	94	3	PRMT3	11	20409624	Nonsense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		20409624	114596892	16	7883										
CARD16	114769	broad.mit.edu	37	chr11	104915359	104915359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	acccatggaatggataaacaGctttctcttctccttcagga	7	11	3	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.chr11:104915359G>T	ENST00000375706.2	-	2	51	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron	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		Somatic				CASP1_ENST00000593315.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M|CASP1_ENST00000415981.2_Intron	p.L12M	NM_001017534.1	NP_001017534.1	WXS	Illumina GAIIx	Phase_I					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	21	220	---	---	---	---	T	104915359	G	T	104915359	3	4	177	1	0	0	0	0	1	0	0	0	2647	962	34	3	591	3	CARD16	11	104915359	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	84505735	104915359	30091157	17	7884										
DSCAML1	57453	broad.mit.edu	37	chr11	117332280	117332280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	cacgtcagaagtgatggacaGggcccggacgttctcagggg	16	10	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.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			Somatic				DSCAML1_ENST00000527706.1_Silent_p.L890L	p.L1160L	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	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	3	89	---	---	---	---	A	117332280	G	A	117332280	2	1	177	1	0	0	0	0	0	0	0	1	4769	991	35	2		2	DSCAML1	11	117332280	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	12416921	117332280	17674236	18	7885										
KLHDC5	57542	broad.mit.edu	37	chr12	27934042	27934042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ctacctcttcatagtgggcgGgtacaggatcactagccagg	12	11	3	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.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		Somatic					p.G260E	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					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	3	41	---	---	---	---	A	27934042	G	A	27934042	3	1	177	1	0	0	0	0	1	0	0	0	8359	1232	43	2	781	2	KLHDC5	12	27934042	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		27934042	105917853	19	7886										
TARBP2	8620	broad.mit.edu	37	chr12	53897517	53897517	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	ttctttttctcccctagactCttcactgcctgaggacattc	5	14	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.chr12:53897517C>G	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C|TARBP2_ENST00000266987.2_Missense_Mutation_p.S116C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|RP11-793H13.11_ENST00000602306.1_RNA	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			Somatic				TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C	p.S116C	NM_134323.1	NP_599150.1	WXS	Illumina GAIIx	Phase_I	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	5	127	---	---	---	---	G	53897517	C	G	53897517	1	3	177	0	1	0	0	0	0	0	0	0	15553	913	32	4		4	TARBP2	12	53897517	IGR	SNP	C	TCGA-HC-7818-01A-11D-2114-08	25963475	53897517	79954378	20	7887										
GPR84	53831	broad.mit.edu	37	chr12	54757587	54757587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	tgcaacataacgatagcccaGcacagactcatggtagcagg	10	11	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.chr12:54757587G>A	ENST00000551809.1	-	1	684	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.L17L			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	53831					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			Somatic				RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA	p.L17L			WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	A	54757587	G	A	54757587	2	1	177	1	0	0	0	0	0	0	0	1	6714	962	34	2		2	GPR84	12	54757587	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	860070	54757587	79094308	21	7888										
ZBTB4	57659	broad.mit.edu	37	chr17	7366047	7366047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	tccggcccgggagctgtgggAgcccccaccgtgggcctctt	15	16	1	0	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		Somatic				ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	p.S752A	NM_020899.3	NP_065950.2	WXS	Illumina GAIIx	Phase_I	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	4	83	---	---	---	---	C	7366047	A	C	7366047	3	2	177	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	22	7889										
LHX1	3975	broad.mit.edu	37	chr17	35295534	35295534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	gcaaaaggcccatcctggacCgctttctcttgaacgtgctg	10	13	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.chr17:35295534C>A	ENST00000254457.5	+	1	1451	c.40C>A	c.(40-42)Cgc>Agc	p.R14S	RP11-445F12.1_ENST00000532387.2_RNA|RP11-445F12.1_ENST00000525111.1_RNA|RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.2_ENST00000607336.1_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		Somatic					p.R14S	NM_005568.3	NP_005559.2	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	A	35295534	C	A	35295534	3	1	177	1	0	0	0	0	1	0	0	0	8770	652	23	1	42	1	LHX1	17	35295534	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	27929487	35295534	45899676	23	7890										
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165307	39165307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	cggtggggacgctgcaggagCggagagcacagcaatacatg	17	9	0	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		Somatic				KRTAP3-1_ENST00000581033.1_Intron	p.R7H	NM_031958.1	NP_114164.1	WXS	Illumina GAIIx	Phase_I	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	10	108	---	---	---	---	T	39165307	C	T	39165307	3	4	177	1	0	0	0	0	1	0	0	0	8545	768	27	2	280	2	KRTAP3-1	17	39165307	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	3869773	39165307	42029903	24	7891										
ALPK2	115701	broad.mit.edu	37	chr18	56203463	56203463	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	tccaatgtacactgatggtgGgctcttcgcctttatggctt	10	10	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.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		Somatic				RP11-1151B14.4_ENST00000591360.1_RNA	p.P1319R	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	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	3	90	---	---	---	---	C	56203463	G	C	56203463	3	2	177	1	0	0	0	0	1	0	0	0	545	1232	43	4	2592	4	ALPK2	18	56203463	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		56203463	21873785	25	7892										
MYBPC2	4606	broad.mit.edu	37	chr19	50957350	50957350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.87320574162679	4.12105263157895	0	0.1	1	0	cagctttgtgattgagagtgCgcagcgggaagacgagggcc	17	8	0	3	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		Somatic					p.A608V	NM_004533.3	NP_004524.3	WXS	Illumina GAIIx	Phase_I	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	4	20	---	---	---	---	T	50957350	C	T	50957350	3	4	177	1	0	0	0	0	1	0	0	0	10012	768	27	2	1889	2	MYBPC2	19	50957350	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		50957350	8171633	26	7893										
CLCNKB	1188	broad.mit.edu	37	chr1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-													0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	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)tccfs		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		Somatic				CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	p.S229fs	NM_000085.4	NP_000076.2	WXS	Illumina GAIIx	Phase_I				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	178	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	7894										
AKR7L	246181	broad.mit.edu	37	chr1	19597014	19597014	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	atctcggccacttcccaggcGgcatagttggagaggccaag	13	12	1	1	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			Somatic				AKR7L_ENST00000429712.1_RNA				WXS	Illumina GAIIx	Phase_I					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	3	74	---	---	---	---	T	19597014	G	T	19597014	1	4	178	0	1	0	0	0	0	0	0	0	477	1103	39	1		1	AKR7L	1	19597014	RNA	SNP	G	TCGA-HC-7820-01A-11D-2114-08	3221369	19597014	229653607	2	7895										
MACF1	23499	broad.mit.edu	37	chr1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ctccatctgctgagtataaaGtggtgaaagcacagatccaa	9	9	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.chr1:39888543G>C	ENST00000372915.3	+	59	16222	c.16135G>C	c.(16135-16137)Gtg>Ctg	p.V5379L	MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000564288.1_Missense_Mutation_p.V5374L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L			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		Somatic				MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L	p.V5374L			WXS	Illumina GAIIx	Phase_I	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	4	29	---	---	---	---	C	39888543	G	C	39888543	3	2	178	1	0	0	0	0	1	0	0	0	9144	1029	36	4	16303	4	MACF1	1	39888543	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	20291529	39888543	209362078	3	7896										
SYCP1	6847	broad.mit.edu	37	chr1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	aacttttgtctgttaagaagCaacttgaaatagaaagagaa	8	4	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.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		Somatic				SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	WXS	Illumina GAIIx	Phase_I	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	12	58	---	---	---	---	A	115489915	C	A	115489915	3	1	178	1	0	0	0	0	1	0	0	0	15428	711	25	3	2398	3	SYCP1	1	115489915	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	75601372	115489915	133760706	4	7897										
RYR2	6262	broad.mit.edu	37	chr1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	gctaggtgaccagaatagacGgcaccatagacagttcccca	10	12	0	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		Somatic				RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	p.G1275S	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	19	105	---	---	---	---	A	237753955	G	A	237753955	3	1	178	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	5	7898										
LRRTM1	347730	broad.mit.edu	37	chr2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ggcgcactgcaagttgccatCgtagcgcccctggaagttgt	13	12	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.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_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)	Somatic				CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.D337N	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	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	4	22	---	---	---	---	T	80529936	C	T	80529936	3	4	178	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	6	7899										
EIF2AK3	9451	broad.mit.edu	37	chr2	88874185	88874185	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	atgctccacaaatacagaccTtgaggtccctgtgcatcagt	8	12	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.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	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.(2815-2817)aAg>aGg		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			Somatic				AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	p.K939R	NM_004836.5	NP_004827.4	WXS	Illumina GAIIx	Phase_I	Q9NZJ5	E2AK3_HUMAN			13	3117	-			939			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37	c.2816A>G	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	4	17	---	---	---	---	C	88874185	T	C	88874185	5	2	178	1	0	0	0	0	0	0	1	0	4998	1623	56	2	554	2	EIF2AK3	2	88874185	Splice_Site	SNP	T	TCGA-HC-7820-01A-11D-2114-08	8344249	88874185	154325188	7	7900										
ALPP	250	broad.mit.edu	37	chr2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	cgagtatcggcagcagtcagCagtgcccctggacgaagaga	14	11	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.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_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		Somatic				AC068134.8_ENST00000441266.1_RNA	p.A446V	NM_001632.3	NP_001623.3	WXS	Illumina GAIIx	Phase_I	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	10	22	---	---	---	---	T	233246234	C	T	233246234	3	4	178	1	0	0	0	0	1	0	0	0	548	710	25	2	1379	2	ALPP	2	233246234	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	144372049	233246234	9953139	8	7901										
ZBBX	79740	broad.mit.edu	37	chr3	167000276	167000276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	gctgttgaaggtctctgtgaTttctgacctaaaattaaaag	9	6	2	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.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K	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			Somatic				ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K	p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	C	167000276	T	C	167000276	2	2	178	1	0	0	0	0	0	0	0	1	17513	1490	52	2		2	ZBBX	3	167000276	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08		167000276	31022154	9	7902										
OPA1	4976	broad.mit.edu	37	chr3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	aagactgtgacatcaggcatGgctcctgacacaaaggaaac	10	10	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.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_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361510.2_Missense_Mutation_p.M465I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I	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		Somatic				OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I	p.M465I	NM_130837.2	NP_570850.2	WXS	Illumina GAIIx	Phase_I	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	11	46	---	---	---	---	A	193361334	G	A	193361334	3	1	178	1	0	0	0	0	1	0	0	0	10871	1348	47	2	1453	2	OPA1	3	193361334	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	26361058	193361334	4661096	10	7903										
YTHDC1	91746	broad.mit.edu	37	chr4	69198540	69198540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	acagcacgaacggaagatgaTaatttctcatgcttcttttc	7	9	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.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			Somatic				YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	p.L333L	NM_001031732.2	NP_001026902.1	WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	C	69198540	T	C	69198540	2	2	178	1	0	0	0	0	0	0	0	1	17493	1403	49	2		2	YTHDC1	4	69198540	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08		69198540	121955736	11	7904										
CPA5	93979	broad.mit.edu	37	chr7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tatgagagttcctttctctgAactgaaagacatcaaagctt	7	8	2	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_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_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		Somatic				CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G	p.E88G			WXS	Illumina GAIIx	Phase_I	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	11	101	---	---	---	---	G	129989880	A	G	129989880	3	3	178	1	0	0	0	0	1	0	0	0	3793	246	9	2	273	2	CPA5	7	129989880	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		129989880	29148783	12	7905										
ZNF33B	7582	broad.mit.edu	37	chr10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ggcagaaagcttttccacacTcattacattcatagggtttc	7	10	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.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		Somatic				ZNF33B_ENST00000486187.1_RNA	p.E641V	NM_006955.1	NP_008886.1	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	A	43088476	T	A	43088476	3	1	178	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	13	7906										
MYST4	23522	broad.mit.edu	37	chr10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tctttgatgggctttctcatAtctataccactcagggacag	8	10	4	1	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_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_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		Somatic				KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	p.I550F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina GAIIx	Phase_I	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	9	59	---	---	---	---	T	76735743	A	T	76735743	3	4	178	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	14	7907										
RRM1	6240	broad.mit.edu	37	chr11	4130915	4130915	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tatgaccgagatttctcttaCaattacttcggctttaaggt	7	8	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.chr11:4130915C>A	ENST00000300738.5	+	5	633	c.429C>A	c.(427-429)taC>taA	p.Y143*	RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	143					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)	ATTTCTCTTACAATTACTTCG	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.(427-429)taC>taA		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						58	60	59					11																	4130915		2201	4297	6498	SO:0001587	stop_gained	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4130915C>A	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.429C>A	11.37:g.4130915C>A	ENSP00000300738:p.Tyr143*		Somatic				RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	p.Y143*	NM_001033.3	NP_001024.1	WXS	Illumina GAIIx	Phase_I	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	5	633	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	143					Q9UNN2	Nonsense_Mutation	SNP	ENST00000300738.5	37	c.429C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	37	6.010816	0.97200	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	.	.	.	5.58	-8.6	0.00889	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9882	20.4278	0.99070	0.0:0.7781:0.0:0.2219	.	.	.	.	X	143;46	.	ENSP00000300738:Y143X	Y	+	3	2	RRM1	4087491	0.734000	0.28142	0.584000	0.28653	0.994000	0.84299	-0.128000	0.10531	-1.985000	0.00984	-0.302000	0.09304	TAC		0.294	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		3	41	3	41	---	---	---	---	A	4130915	C	A	4130915	4	1	178	1	0	0	0	0	0	1	0	0	13681	489	17	3	447	3	RRM1	11	4130915	Nonsense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		4130915	130875601	15	7908										
NLRP10	338322	broad.mit.edu	37	chr11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tcagtgctgtttctaggtgtCtctaagacaactttgcctct	8	10	4	1	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		Somatic					p.E376D	NM_176821.3	NP_789791.1	WXS	Illumina GAIIx	Phase_I	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	10	26	---	---	---	---	A	7982031	C	A	7982031	3	1	178	1	0	0	0	0	1	0	0	0	10472	912	32	3	843	3	NLRP10	11	7982031	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	3851116	7982031	127024485	16	7909										
SCGB1A1	7356	broad.mit.edu	37	chr11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tgttgcagcttctgcagagaTctgcccgagctttcagcgtg	12	11	3	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.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	SCGB1A1_ENST00000534397.1_5'UTR|CTD-2531D15.4_ENST00000528983.1_RNA	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		Somatic				CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	p.I23T	NM_003357.4	NP_003348.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	C	62189705	T	C	62189705	3	2	178	1	0	0	0	0	1	0	0	0	13894	1435	50	2	74	2	SCGB1A1	11	62189705	Missense_Mutation	SNP	T	TCGA-HC-7820-01A-11D-2114-08	54207674	62189705	72816811	17	7910										
FLI1	2313	broad.mit.edu	37	chr11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	acgccagctgtatcacctggGaggggaccaacggggagttc	15	11	1	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.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K	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																																	ENST00000527786.2				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.(907-909)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		Somatic				FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	p.E303K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	WXS	Illumina GAIIx	Phase_I	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1396	+	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)						B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.907G>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	3	9	---	---	---	---	A	128680431	G	A	128680431	3	1	178	1	0	0	0	0	1	0	0	0	5924	1175	41	2	941	2	FLI1	11	128680431	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	66490726	128680431	6326085	18	7911										
SCYL2	55681	broad.mit.edu	37	chr12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	agcctaaatttccttgtaaaGaatgggacccaaatttacct	6	9	0	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.chr12:100706228G>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		Somatic					p.E217Q	NM_017988.4	NP_060458.3	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	C	100706228	G	C	100706228	3	2	178	1	0	0	0	0	1	0	0	0	13948	943	33	4	667	4	SCYL2	12	100706228	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		100706228	33145667	19	7912										
DTX1	1840	broad.mit.edu	37	chr12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ccagaccatccgcatcgtctAtgacatccccacaggcatcc	6	18	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.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		Somatic				DTX1_ENST00000547974.1_3'UTR	p.Y509C	NM_004416.2	NP_004407.2	WXS	Illumina GAIIx	Phase_I	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	21	117	---	---	---	---	G	113532986	A	G	113532986	3	3	178	1	0	0	0	0	1	0	0	0	4793	449	16	2	1552	2	DTX1	12	113532986	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08	12826758	113532986	20318909	20	7913										
IPO5	3843	broad.mit.edu	37	chr13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	gctgcagaccatggaagaccAaggcaatcaacgtgtgcagg	13	10	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.chr13:98655152A>G	ENST00000490680.1	+	13	1423	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	IPO5_ENST00000261574.5_Missense_Mutation_p.Q471R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R			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		Somatic				IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	p.Q471R	NM_002271.4	NP_002262.3	WXS	Illumina GAIIx	Phase_I	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	6	20	---	---	---	---	G	98655152	A	G	98655152	3	3	178	1	0	0	0	0	1	0	0	0	7796	130	5	2	1466	2	IPO5	13	98655152	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		98655152	16514726	21	7914										
TEP1	7011	broad.mit.edu	37	chr14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tgacccttgctgggaaacagGagccaaggggcttggagtgt	16	8	0	1	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		Somatic				TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	p.P890S	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	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	17	88	---	---	---	---	A	20856080	G	A	20856080	3	1	178	1	0	0	0	0	1	0	0	0	15756	1174	41	2	5367	2	TEP1	14	20856080	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		20856080	86493460	22	7915										
C14orf115	55237	broad.mit.edu	37	chr14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	caagagctttccctcctacaAggagttcagtgccctctttc	7	14	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.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		Somatic					p.K672M	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	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	24	74	---	---	---	---	T	74825501	A	T	74825501	3	4	178	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	23	7916										
SPTLC2	9517	broad.mit.edu	37	chr14	78021768	78021768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ccggcctgtggggcccagggCgccaatgctgtgagcctcat	15	14	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.chr14:78021768C>A	ENST00000216484.2	-	8	1244	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	351					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A351S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGGCCCAGGGCGCCAATGCTG	0.522																																						ENST00000216484.2																			1	Substitution - Missense(1)	p.A351S(1)	lung(1)	kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(1051-1053)Gcc>Tcc		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						89	93	92					14																	78021768		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78021768C>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1051G>T	14.37:g.78021768C>A	ENSP00000216484:p.Ala351Ser		Somatic					p.A351S	NM_004863.3	NP_004854.1	WXS	Illumina GAIIx	Phase_I	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	8	1244	-			351					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1051G>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761965|4.761965	0.89932|0.89932	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.91351|.	-2.83|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.098770|.	0.64402|.	D|.	0.000001|.	T|T	0.73241|0.73241	0.3562|0.3562	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.44734|.	0.842|.	P|.	0.46339|.	0.513|.	T|T	0.71286|0.71286	-0.4638|-0.4638	10|5	0.51188|.	T|.	0.08|.	-13.1964|-13.1964	18.6117|18.6117	0.91288|0.91288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	351|.	O15270|.	SPTC2_HUMAN|.	S|L	351|287	ENSP00000216484:A351S|.	ENSP00000216484:A351S|.	A|R	-|-	1|2	0|0	SPTLC2|SPTLC2	77091521|77091521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.755000|5.755000	0.68750|0.68750	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.522	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		3	99	3	99	---	---	---	---	A	78021768	C	A	78021768	3	1	178	1	0	0	0	0	1	0	0	0	15123	768	27	3	657	3	SPTLC2	14	78021768	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	3196267	78021768	29327772	24	7917										
FAM174B	400451	broad.mit.edu	37	chr15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	tggcgccatttccactcgctCtgctggagtggtgatgatat	12	10	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_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_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		Somatic				FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	p.E134Q	NM_207446.2	NP_997329.2	WXS	Illumina GAIIx	Phase_I	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	8	26	---	---	---	---	G	93173520	C	G	93173520	3	3	178	1	0	0	0	0	1	0	0	0	5496	922	32	4	87	4	FAM174B	15	93173520	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		93173520	9357872	25	7918										
CDH5	1003	broad.mit.edu	37	chr16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	accaaatcctgaaggggaaaGagtattttgccatcgataat	9	7	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.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		Somatic				CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	p.E198K	NM_001795.3	NP_001786.2	WXS	Illumina GAIIx	Phase_I	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	23	122	---	---	---	---	A	66422319	G	A	66422319	3	1	178	1	0	0	0	0	1	0	0	0	3113	943	33	2	602	2	CDH5	16	66422319	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		66422319	23932434	26	7919										
CYP2S1	29785	broad.mit.edu	37	chr19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ccgtggtccgggcagctggtGgtaccctgctgggagtcagc	17	12	1	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.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		Somatic				CYP2S1_ENST00000542619.1_Intron	p.G207R	NM_030622.6	NP_085125.1	WXS	Illumina GAIIx	Phase_I	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	8	114	---	---	---	---	C	41704492	G	C	41704492	3	2	178	1	0	0	0	0	1	0	0	0	4174	1348	47	4	633	4	CYP2S1	19	41704492	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		41704492	17424491	27	7920										
PLEKHA4	57664	broad.mit.edu	37	chr19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.88215488215488	3.45061728395062	0.985890652557319	1	1	0	ccctcggggggctcccggccCatctggtctaatattgtagc	12	14	2	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.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	57664					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		Somatic				PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	p.G110W	NM_020904.2	NP_065955.2	WXS	Illumina GAIIx	Phase_I	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	7	78	---	---	---	---	A	49364696	C	A	49364696	3	1	178	1	0	0	0	0	1	0	0	0	12058	594	21	1	2075	1	PLEKHA4	19	49364696	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	7660204	49364696	9764287	28	7921										
GJB5	2709	broad.mit.edu	37	chr1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgagaccatgtgaagaaaaCcatcttgtgaggggctgcct	12	10	1	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.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		Somatic					p.T271I	NM_005268.3	NP_005259.1	WXS	Illumina GAIIx	Phase_I	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	19	21	---	---	---	---	T	35223743	C	T	35223743	3	4	179	1	0	0	0	0	1	0	0	0	6411	507	18	2	814	2	GJB5	1	35223743	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		35223743	214026878	1	7922										
THRAP3	9967	broad.mit.edu	37	chr1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgaggagcctttcctcgggGtcggggccggttcatgttcc	15	13	1	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.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D|SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank	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		Somatic				THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	p.G907D	NM_005119.3	NP_005110.2	WXS	Illumina GAIIx	Phase_I	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	12	74	---	---	---	---	A	36769470	G	A	36769470	3	1	179	1	0	0	0	0	1	0	0	0	15871	1261	44	2	2758	2	THRAP3	1	36769470	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	1545727	36769470	212481151	2	7923										
TARS2	80222	broad.mit.edu	37	chr1	150471026	150471026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcgggaactgcccctgcgActagctgactttggggctct	14	12	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.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_ENST00000606933.1_Silent_p.R347R|TARS2_ENST00000438568.2_3'UTR	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			Somatic				TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R	p.R429R	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	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	5	84	---	---	---	---	G	150471026	A	G	150471026	2	3	179	1	0	0	0	0	0	0	0	1	15557	262	10	2		2	TARS2	1	150471026	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	113701556	150471026	98779595	3	7924										
PLEKHA6	22874	broad.mit.edu	37	chr1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcaccctcccctcgagtcTtggcctctggctcaggctta	8	17	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.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	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		Somatic				PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	p.K206R	NM_014935.4	NP_055750.2	WXS	Illumina GAIIx	Phase_I	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	42	43	---	---	---	---	C	204228776	T	C	204228776	3	2	179	1	0	0	0	0	1	0	0	0	12060	1609	56	2	2589	2	PLEKHA6	1	204228776	Missense_Mutation	SNP	T	TCGA-HC-7821-01A-12D-2114-08	53757750	204228776	45021845	4	7925										
RYR2	6262	broad.mit.edu	37	chr1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttttgtcttgtgcggagaCggatgagaatgaaaccctcg	12	8	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_ENST00000360064.6_Missense_Mutation_p.T4078K|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000609119.1_3'UTR	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		Somatic				RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	p.T4072K	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	5	12	---	---	---	---	A	237947227	C	A	237947227	3	1	179	1	0	0	0	0	1	0	0	0	13769	536	19	3	12573	3	RYR2	1	237947227	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	33718451	237947227	11303394	5	7926										
TTN	7273	broad.mit.edu	37	chr2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttgtcacttcagggttttTgggcggatcagggggtccat	15	7	3	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.chr2:179438180T>G	ENST00000591111.1	-	276	67980	c.67756A>C	c.(67756-67758)Aaa>Caa	p.K22586Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24227Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_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		Somatic				TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN-AS1_ENST00000586831.1_RNA	p.K24227Q	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	3	114	---	---	---	---	G	179438180	T	G	179438180	3	3	179	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		179438180	63761193	6	7927										
HHIP	64399	broad.mit.edu	37	chr4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggagcaaggaggagaaggtGcctgaatgggaaccccccga	16	10	0	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.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y|HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_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		Somatic				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y	p.C39Y	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	A	145567943	G	A	145567943	3	1	179	1	0	0	0	0	1	0	0	0	7092	1319	46	2	118	2	HHIP	4	145567943	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		145567943	45586333	7	7928										
PRDM9	56979	broad.mit.edu	37	chr5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtctgcagggagtgtgggCggggctttcgcgataagtca	17	7	2	0	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)	Somatic					p.R755W	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	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	10	154	---	---	---	---	T	23527460	C	T	23527460	3	4	179	1	0	0	0	0	1	0	0	0	12463	759	27	2	2301	2	PRDM9	5	23527460	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23527460	157387800	8	7929										
C7	730	broad.mit.edu	37	chr5	40958242	40958242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgaatttgacccctgtcaTtgccggccttgtcaaaatgg	10	10	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.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			Somatic					p.H456H	NM_000587.2	NP_000578.2	WXS	Illumina GAIIx	Phase_I	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	4	76	---	---	---	---	C	40958242	T	C	40958242	2	2	179	1	0	0	0	0	0	0	0	1	2375	1490	52	2		2	C7	5	40958242	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08	17430782	40958242	139957018	9	7930										
MLXIP	22877	broad.mit.edu	37	chr12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggaagtactggaagagccGcatcgagattgtgatccggg	16	7	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.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)	ENST00000319080.7																			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		Somatic					p.R214L			WXS	Illumina GAIIx	Phase_I	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)				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	3	21	---	---	---	---	T	122613718	G	T	122613718	3	4	179	1	0	0	0	0	1	0	0	0	9636	1087	38	3	655	3	MLXIP	12	122613718	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		122613718	11238177	10	7931										
C14orf179	112752	broad.mit.edu	37	chr14	76543017	76543017	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacagagatttggggctggCttcattggaagaggcaggta	15	6	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.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			Somatic				IFT43_ENST00000314067.6_Intron	p.A98D	NM_052873.2	NP_443105.2	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	A	76543017	C	A	76543017	1	1	179	0	1	0	0	0	0	0	0	0	1762	797	28	3		3	C14orf179	14	76543017	Intron	SNP	C	TCGA-HC-7821-01A-12D-2114-08		76543017	30806523	11	7932										
OTUD7A	161725	broad.mit.edu	37	chr15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgtcttgtccttctccttgCgctgcttctccttctccttg	7	16	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.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		Somatic				OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H	p.R509H			WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	T	31776773	C	T	31776773	3	4	179	1	0	0	0	0	1	0	0	0	11318	768	27	2	1279	2	OTUD7A	15	31776773	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		31776773	70754619	12	7933										
EARS2	124454	broad.mit.edu	37	chr16	23555840	23555840	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgaggttcttaccggggCgtctggtggttccgcaaggc	16	10	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.chr16:23555840C>G	ENST00000563459.1	-	3	486	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000449606.1_Silent_p.T160T			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			Somatic				EARS2_ENST00000563459.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T	p.T160T	NM_001083614.1	NP_001077083.1	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	G	23555840	C	G	23555840	2	3	179	1	0	0	0	0	0	0	0	1	4878	755	27	4		4	EARS2	16	23555840	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23555840	66798913	13	7934										
CDH8	1006	broad.mit.edu	37	chr16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagactgattcatcggagcCatgtaaatgcaagggggaag	14	6	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.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		Somatic				CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I	p.M29I	NM_001796.4	NP_001787.2	WXS	Illumina GAIIx	Phase_I	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	7	62	---	---	---	---	A	62055221	C	A	62055221	3	1	179	1	0	0	0	0	1	0	0	0	3116	594	21	1	2356	1	CDH8	16	62055221	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	38499381	62055221	28299532	14	7935										
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	12	13	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.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			Somatic					p.A339A	NM_181534.3	NP_853512.1	WXS	Illumina GAIIx	Phase_I	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	10	219	---	---	---	---	T	38906790	C	T	38906790	2	4	179	1	0	0	0	0	0	0	0	1	8462	755	27	2		2	KRT25	17	38906790	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		38906790	42288420	15	7936										
KRT33A	3883	broad.mit.edu	37	chr17	39502452	39502452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggcccagtggacttgtcAcatgcattggttgtggcgca	14	10	1	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.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			Somatic					p.C378C	NM_004138.3	NP_004129.2	WXS	Illumina GAIIx	Phase_I	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	31	48	---	---	---	---	G	39502452	A	G	39502452	2	3	179	1	0	0	0	0	0	0	0	1	8469	157	6	2		2	KRT33A	17	39502452	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	595662	39502452	41692758	16	7937										
ALPK2	115701	broad.mit.edu	37	chr18	56246187	56246187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttttgcttcttgctctgcCtgggttgaaatagcacattc	9	9	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	37	16	---	---	---	---	T	56246187	C	T	56246187	2	4	179	1	0	0	0	0	0	0	0	1	545	680	24	2		2	ALPK2	18	56246187	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		56246187	21831061	17	7938										
NLRP12	91662	broad.mit.edu	37	chr19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgcagagaggtcctcgcAggctgagctggagatgcggc	17	10	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.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000351894.4_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		Somatic				NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R	p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina GAIIx	Phase_I	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	3	103	---	---	---	---	G	54308673	A	G	54308673	3	3	179	1	0	0	0	0	1	0	0	0	10474	188	7	2	934	2	NLRP12	19	54308673	Missense_Mutation	SNP	A	TCGA-HC-7821-01A-12D-2114-08		54308673	4820310	18	7939										
C20orf85	128602	broad.mit.edu	37	chr20	56726068	56726068	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggctgaacgcatgaacctTgtgggtcaggatgagatctg	15	8	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.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			Somatic					p.L16L	NM_178456.2	NP_848551.1	WXS	Illumina GAIIx	Phase_I	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	7	5	---	---	---	---	G	56726068	T	G	56726068	2	3	179	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	19	7940										
P2RY10	27334	broad.mit.edu	37	chrX	78216116	78216116	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcactaatgtgaaatttcaAtactccctctatgcaaccac	4	12	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.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	27334					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		Somatic				P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	p.Q33H	NM_014499.2	NP_055314.1	WXS	Illumina GAIIx	Phase_I	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	8	61	---	---	---	---	T	78216116	A	T	78216116	3	4	179	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	20	7941										
SDF4	51150	broad.mit.edu	37	chr1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	acccagcctcacccaggtccCggacgatctccttcaccatg	7	19	3	0	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		Somatic				SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	WXS	Illumina GAIIx	Phase_I	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	6	192	---	---	---	---	T	1154157	C	T	1154157	3	4	180	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	7942										
KCNA3	3738	broad.mit.edu	37	chr1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	cccggagctctcggggtactCgaagagcagccacacctggc	13	15	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.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		Somatic					p.E225K	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	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	44	98	---	---	---	---	T	111216759	C	T	111216759	3	4	180	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	7943										
CACNA1E	777	broad.mit.edu	37	chr1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	cgtctgggcagaatatgaccGagcagcatggtgcgtaggcc	15	10	1	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_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|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		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q	p.R1734Q	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	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	79	104	---	---	---	---	A	181745355	G	A	181745355	3	1	180	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	70528596	181745355	67505266	3	7944										
CFH	3075	broad.mit.edu	37	chr1	196711060	196711060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	gccatacccatgggagagaaGaaggatgtgtataaggcggg	16	6	0	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.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			Somatic					p.K1004K	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	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	5	90	---	---	---	---	A	196711060	G	A	196711060	2	1	180	1	0	0	0	0	0	0	0	1	3283	933	33	2		2	CFH	1	196711060	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	14965705	196711060	52539561	4	7945										
TMEM177	80775	broad.mit.edu	37	chr2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	tcgccttggccagggaagtgGtgtacctggaaagcagtacc	14	10	0	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.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M	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		Somatic				TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M	p.V159M	NM_001105198.1	NP_001098668.1	WXS	Illumina GAIIx	Phase_I	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	8	166	---	---	---	---	A	120438904	G	A	120438904	3	1	180	1	0	0	0	0	1	0	0	0	16091	1261	44	2	477	2	TMEM177	2	120438904	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		120438904	122760469	5	7946										
CADPS	8618	broad.mit.edu	37	chr3	62535600	62535600	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	aattgagagataggggcatcCagctgaggtacatttcctcc	11	9	0	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.chr3:62535600C>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			Somatic				CADPS_ENST00000283269.9_Silent_p.L648L|CADPS_ENST00000357948.3_Silent_p.L648L	p.L648L	NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	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	40	70	---	---	---	---	G	62535600	C	G	62535600	2	3	180	1	0	0	0	0	0	0	0	1	2570	581	21	4		4	CADPS	3	62535600	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		62535600	135486830	6	7947										
EPHA3	2042	broad.mit.edu	37	chr3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	tagcattaaagctctagaaaCgcaatcaaagaatggcccag	8	9	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.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)	Somatic				EPHA3_ENST00000494014.1_3'UTR	p.T974M	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	7	30	---	---	---	---	T	89528621	C	T	89528621	3	4	180	1	0	0	0	0	1	0	0	0	5168	536	19	2	3013	2	EPHA3	3	89528621	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	26993021	89528621	108493809	7	7948										
CDH12	1010	broad.mit.edu	37	chr5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	aggtcgggtcatctgcatctGtggccttgacctggagtaca	13	10	3	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.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	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)	Somatic				CDH12_ENST00000504376.2_Missense_Mutation_p.T185R|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	p.T185R	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	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	21	26	---	---	---	---	C	21854872	G	C	21854872	3	2	180	1	0	0	0	0	1	0	0	0	3098	1377	48	4	1866	4	CDH12	5	21854872	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		21854872	159060388	8	7949										
SYNJ2	8871	broad.mit.edu	37	chr6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	gaccccacaggcgcccccacTccttccccgtcggcccccac	7	25	0	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.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_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H	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		Somatic				SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H	p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina GAIIx	Phase_I	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	8	65	---	---	---	---	A	158514069	T	A	158514069	3	1	180	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	9	7950										
ADCY1	107	broad.mit.edu	37	chr7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	gttttctaggcatcaatgttGgccctgtggtggctggagtg	15	7	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.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		Somatic					p.G982C	NM_021116.2	NP_066939.1	WXS	Illumina GAIIx	Phase_I	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	8	115	---	---	---	---	T	45750138	G	T	45750138	3	4	180	1	0	0	0	0	1	0	0	0	292	1348	47	1	3018	1	ADCY1	7	45750138	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		45750138	113388525	10	7951										
BAZ1B	9031	broad.mit.edu	37	chr7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	gcgtgttgggcagcccttcaGgggtatccaccaatctgaat	12	11	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.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		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	p.P599H	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	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	6	161	---	---	---	---	T	72891995	G	T	72891995	3	4	180	1	0	0	0	0	1	0	0	0	1330	1000	35	1	2707	1	BAZ1B	7	72891995	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	27141857	72891995	86246668	11	7952										
KBTBD6	89890	broad.mit.edu	37	chr13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	tcctgggctgagcagctagaTagatgtcatggtcaggagag	15	7	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.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		Somatic				KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	p.Y396F	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	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	78	101	---	---	---	---	A	41705461	T	A	41705461	3	1	180	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	12	7953										
LMO7	4008	broad.mit.edu	37	chr13	76379699	76379699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	tcctcttgttatttggaagaGgaaaaagcaaagacaagaag	10	5	1	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_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000377534.3_Silent_p.E385E|RP11-29G8.3_ENST00000563635.1_RNA			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			Somatic				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Silent_p.E385E|LMO7_ENST00000465261.2_Silent_p.E100E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Silent_p.E100E	p.E385E			WXS	Illumina GAIIx	Phase_I	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	5	197	---	---	---	---	A	76379699	G	A	76379699	2	1	180	1	0	0	0	0	0	0	0	1	8855	991	35	2		2	LMO7	13	76379699	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	34674238	76379699	38790179	13	7954										
KIAA0664	23277	broad.mit.edu	37	chr17	2606635	2606635	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	0.922839506172839	0	1.18650793650794	1	1	0	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_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_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																																						ENST00000570628.2																			0											c.(337-339)ggcfs		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		Somatic				CLUH_ENST00000538975.1_Frame_Shift_Del_p.G113fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.G113fs	p.G113fs			WXS	Illumina GAIIx	Phase_I					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	180	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	14	7955										
CHD5	26038	broad.mit.edu	37	chr1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cacagggaaaaagtcatcgaAggcttcaagaccaccatctt	8	11	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.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		Somatic				CHD5_ENST00000378021.1_5'UTR	p.F36I	NM_015557.2	NP_056372.1	WXS	Illumina GAIIx	Phase_I	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	6	217	---	---	---	---	T	6228311	A	T	6228311	3	4	181	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	7956										
DMRTA2	63950	broad.mit.edu	37	chr1	50885066	50885066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccgcccagccctggcgccggCgcggcctcaccctcttcttt	10	21	3	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.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			Somatic				DMRTA2_ENST00000418121.1_Silent_p.A300A	p.A300A	NM_032110.2	NP_115486.1	WXS	Illumina GAIIx	Phase_I	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	9	111	---	---	---	---	T	50885066	C	T	50885066	2	4	181	1	0	0	0	0	0	0	0	1	4589	755	27	2		2	DMRTA2	1	50885066	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	44656755	50885066	198365555	2	7957										
DAB1	1600	broad.mit.edu	37	chr1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgggcttgtcggtctgtggaCttgacctggtggagtcactc	15	9	2	1	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_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371236.2_Missense_Mutation_p.S400N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|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		Somatic				DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N	p.S400N			WXS	Illumina GAIIx	Phase_I	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	8	89	---	---	---	---	T	57480801	C	T	57480801	3	4	181	1	0	0	0	0	1	0	0	0	4217	565	20	2	480	2	DAB1	1	57480801	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	6595735	57480801	191769820	3	7958										
DEPDC1	55635	broad.mit.edu	37	chr1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	atgatccattaagaaagaaaCtaatcttccagcaagaagct	6	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.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	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		Somatic				RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	p.V672F	NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	A	68944925	C	A	68944925	3	1	181	1	0	0	0	0	1	0	0	0	4439	565	20	3	433	3	DEPDC1	1	68944925	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	11464124	68944925	180305696	4	7959										
LYSMD1	388695	broad.mit.edu	37	chr1	151137675	151137675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aggcttccatatgaacgagcCcggctcccttgaagcagtcc	10	14	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.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	LYSMD1_ENST00000440902.2_Intron|SCNM1_ENST00000368905.4_5'Flank	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			Somatic				LYSMD1_ENST00000440902.2_Intron	p.R20R	NM_212551.4	NP_997716.1	WXS	Illumina GAIIx	Phase_I	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	32	69	---	---	---	---	T	151137675	C	T	151137675	2	4	181	1	0	0	0	0	0	0	0	1	9124	610	22	2		2	LYSMD1	1	151137675	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	82192750	151137675	98112946	5	7960										
CD5L	922	broad.mit.edu	37	chr1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gcctgtctggcacacggtatAccactggttctggtgcttca	11	12	3	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.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		Somatic					p.Y160N	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	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	21	127	---	---	---	---	T	157804437	A	T	157804437	3	4	181	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	7961										
ITLN1	55600	broad.mit.edu	37	chr1	160850469	160850469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gggccgttgtcagtccaacaCtttccttctccatatttcac	6	14	3	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.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			Somatic				ITLN1_ENST00000487531.1_5'UTR	p.K198K	NM_017625.2	NP_060095.2	WXS	Illumina GAIIx	Phase_I	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	8	142	---	---	---	---	T	160850469	C	T	160850469	2	4	181	1	0	0	0	0	0	0	0	1	7910	564	20	2		2	ITLN1	1	160850469	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	3046032	160850469	88400152	7	7962										
SELP	6403	broad.mit.edu	37	chr1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gagggtggctgcagttcatgAgcacgtgttgagggagctca	17	7	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.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_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_ENST00000367793.2_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		Somatic				SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P	p.L210P	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	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	14	57	---	---	---	---	G	169582313	A	G	169582313	3	3	181	1	0	0	0	0	1	0	0	0	14019	304	11	2	1911	2	SELP	1	169582313	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	8731844	169582313	79668308	8	7963										
SEC16B	89866	broad.mit.edu	37	chr1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccacagggggctgccgcttgTacttctccagcttcttgcag	11	14	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.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000354921.3_RNA	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		Somatic				SEC16B_ENST00000464631.2_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000354921.3_RNA	p.Y399F	NM_033127.2	NP_149118.2	WXS	Illumina GAIIx	Phase_I	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	9	33	---	---	---	---	A	177927436	T	A	177927436	3	1	181	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	9	7964										
HSD11B1	3290	broad.mit.edu	37	chr1	209879155	209879155	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cttccttttggggttccccaGagatgctccaaggaaagaaa	10	10	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.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		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	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			Somatic				RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site		NM_001206741.1	NP_001193670.1	WXS	Illumina GAIIx	Phase_I	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	6	81	---	---	---	---	C	209879155	G	C	209879155	5	2	181	1	0	0	0	0	0	0	1	0	7375	956	33	4	94	4	HSD11B1	1	209879155	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31951719	209879155	39371466	10	7965										
OR2T4	127074	broad.mit.edu	37	chr1	248525215	248525215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tacatttctgtcactgtgccCaagatgctcctggaccaggt	9	12	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.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			Somatic					p.P111P	NM_001004696.1	NP_001004696.1	WXS	Illumina GAIIx	Phase_I	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	18	262	---	---	---	---	T	248525215	C	T	248525215	2	4	181	1	0	0	0	0	0	0	0	1	11027	581	21	2		2	OR2T4	1	248525215	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	38646060	248525215	725406	11	7966										
COLEC11	78989	broad.mit.edu	37	chr2	3691606	3691606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gagcccaacaatgcctacgaCgaggaggactgcgtggagat	14	10	0	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_ENST00000403096.3_Silent_p.D212D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000487365.1_3'UTR	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			Somatic				COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000382062.2_Silent_p.D214D	p.D212D	NM_001255986.1	NP_001242915.1	WXS	Illumina GAIIx	Phase_I	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	7	107	---	---	---	---	T	3691606	C	T	3691606	2	4	181	1	0	0	0	0	0	0	0	1	3711	535	19	2		2	COLEC11	2	3691606	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3691606	239507767	12	7967										
RAD51AP2	729475	broad.mit.edu	37	chr2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aacaactctcattaggaactTcctgttctccattattgggt	6	10	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.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		Somatic					p.E1060G	NM_001099218.2	NP_001092688.1	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	C	17696504	T	C	17696504	3	2	181	1	0	0	0	0	1	0	0	0	12987	1783	62	2	312	2	RAD51AP2	2	17696504	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	14004898	17696504	225502869	13	7968										
APOB	338	broad.mit.edu	37	chr2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cctacttgtaggagaaaggcAggaagaggtgttgctccttg	14	7	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.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		Somatic				APOB_ENST00000399256.4_Missense_Mutation_p.L268P	p.L268P	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	G	21258471	A	G	21258471	3	3	181	1	0	0	0	0	1	0	0	0	785	188	7	2	12980	2	APOB	2	21258471	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	3561967	21258471	221940902	14	7969										
SRBD1	55133	broad.mit.edu	37	chr2	45773897	45773897	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	acaacatccagtggtgcaaaAtaattcttcattatcaggtc	6	9	3	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.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			Somatic				SRBD1_ENST00000535761.1_Silent_p.Y135Y	p.Y616Y	NM_018079.4	NP_060549.4	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	G	45773897	A	G	45773897	2	3	181	1	0	0	0	0	0	0	0	1	15132	108	4	2		2	SRBD1	2	45773897	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	24515426	45773897	197425476	15	7970										
NAGK	55577	broad.mit.edu	37	chr2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	catgatatcggctacgtcaaAcaggccatgttccactattt	7	11	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.chr2:71300700A>T	ENST00000244204.6	+	6	617	c.555A>T	c.(553-555)aaA>aaT	p.K185N	NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000418807.3_Missense_Mutation_p.K134N|NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N			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		Somatic				NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.6_Missense_Mutation_p.K185N|NAGK_ENST00000443938.2_Missense_Mutation_p.K185N|NAGK_ENST00000443872.2_Missense_Mutation_p.K37N	p.K134N			WXS	Illumina GAIIx	Phase_I	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	27	219	---	---	---	---	T	71300700	A	T	71300700	3	4	181	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	16	7971										
WDR33	55339	broad.mit.edu	37	chr2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gatccttggggtggaggcccCtgcatgcctcggatctcctg	14	13	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.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		Somatic					p.Q837H	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	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	22	37	---	---	---	---	A	128477088	C	A	128477088	3	1	181	1	0	0	0	0	1	0	0	0	17284	680	24	1	1527	1	WDR33	2	128477088	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	57176388	128477088	114722285	17	7972										
SCN2A	6326	broad.mit.edu	37	chr2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gatgcccttcgaatacagatGgaagagcgattcatggcatc	11	9	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.chr2:166245953G>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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	T	166245953	G	T	166245953	3	4	181	1	0	0	0	0	1	0	0	0	13916	1348	47	1	5835	1	SCN2A	2	166245953	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	37768865	166245953	76953420	18	7973										
SCN1A	6323	broad.mit.edu	37	chr2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cttcagtagcaacactgaagTtctccaggatgaccgcgatg	10	11	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.chr2:166848422T>A	ENST00000303395.4	-	26	5362	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1788I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|AC010127.3_ENST00000597623.1_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		Somatic				AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000595647.1_RNA	p.N1788I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	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	6	161	---	---	---	---	A	166848422	T	A	166848422	3	1	181	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	19	7974										
SGOL2	151246	broad.mit.edu	37	chr2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	atgaacaagatgaaatttaaAgtcaaccggagaacccaaaa	7	7	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.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		Somatic					p.K1200N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	C	201438669	A	C	201438669	3	2	181	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	20	7975										
SPEG	10290	broad.mit.edu	37	chr2	220350132	220350132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccgcggaaggacaaggggttAtcgccaccaaacctctctgc	11	14	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.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			Somatic				AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L2558L	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	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	4	107	---	---	---	---	G	220350132	A	G	220350132	2	3	181	1	0	0	0	0	0	0	0	1	15035	446	16	2		2	SPEG	2	220350132	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	18911463	220350132	22849241	21	7976										
STK11IP	114790	broad.mit.edu	37	chr2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgtcccctggaggggcctgaGggcgtacggggcagggaatg	20	9	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.chr2:220473351G>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		Somatic				STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D	p.E550D			WXS	Illumina GAIIx	Phase_I	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	3	54	---	---	---	---	T	220473351	G	T	220473351	3	4	181	1	0	0	0	0	1	0	0	0	15287	991	35	1	1741	1	STK11IP	2	220473351	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	123219	220473351	22726022	22	7977										
HDLBP	3069	broad.mit.edu	37	chr2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gtcaggagggatgcgcacggAcaccttgtactggtctttga	14	9	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.chr2:242189366A>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		Somatic				HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR	p.S468A	NM_203346.3	NP_976221	WXS	Illumina GAIIx	Phase_I	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	7	115	---	---	---	---	C	242189366	A	C	242189366	3	2	181	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	21716015	242189366	1010007	23	7978										
THAP4	51078	broad.mit.edu	37	chr2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cttttaaccattggattagaCgttttgagtcctttaggggg	11	6	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.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		Somatic					p.R34H	NM_015963.5	NP_057047.4	WXS	Illumina GAIIx	Phase_I	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	7	93	---	---	---	---	T	242573471	C	T	242573471	3	4	181	1	0	0	0	0	1	0	0	0	15843	536	19	2	1660	2	THAP4	2	242573471	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	384105	242573471	625902	24	7979										
CPNE9	151835	broad.mit.edu	37	chr3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gatcccagctccagagcagcCctgaggattccacatatcca	8	15	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.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	BRPF1_ENST00000383829.2_5'Flank|BRPF1_ENST00000302054.3_5'Flank|BRPF1_ENST00000433861.2_5'Flank|BRPF1_ENST00000424362.1_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		Somatic					p.P553L	NM_153635.2	NP_705899.2	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	T	9771372	C	T	9771372	3	4	181	1	0	0	0	0	1	0	0	0	3819	623	22	2	1736	2	CPNE9	3	9771372	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		9771372	188251058	25	7980										
CADPS	8618	broad.mit.edu	37	chr3	62570916	62570916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	acagcaagtttgattttgagAtcttggtcggggcagttttt	12	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.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000283269.9_Silent_p.D507D|CADPS_ENST00000357948.3_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			Somatic				CADPS_ENST00000357948.3_Silent_p.D507D|CADPS_ENST00000283269.9_Silent_p.D507D	p.D507D	NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	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	6	119	---	---	---	---	G	62570916	A	G	62570916	2	3	181	1	0	0	0	0	0	0	0	1	2570	330	12	2		2	CADPS	3	62570916	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	52799544	62570916	135451514	26	7981										
EPHA3	2042	broad.mit.edu	37	chr3	89445000	89445000	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tttacagctccatcacctgtCctgacgattaagaaagatcg	7	11	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.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000452448.2_Silent_p.V440V|EPHA3_ENST00000494014.1_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)	Somatic				EPHA3_ENST00000452448.2_Silent_p.V440V|EPHA3_ENST00000494014.1_Silent_p.V440V	p.V440V	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	20	112	---	---	---	---	A	89445000	C	A	89445000	2	1	181	1	0	0	0	0	0	0	0	1	5168	842	30	3		3	EPHA3	3	89445000	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	26874084	89445000	108577430	27	7982										
CD200R1	131450	broad.mit.edu	37	chr3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggcaacaaagcacagcatttGtagccatctttacaggccat	8	11	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.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	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		Somatic				CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	p.T55K	NM_170780.2	NP_740750.1	WXS	Illumina GAIIx	Phase_I	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	4	93	---	---	---	---	T	112648324	G	T	112648324	3	4	181	1	0	0	0	0	1	0	0	0	2981	1377	48	3	880	3	CD200R1	3	112648324	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	23203324	112648324	85374106	28	7983										
PLXNA1	5361	broad.mit.edu	37	chr3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cctcggtggcactggtgcccAagcagacgtccgcctacaac	11	16	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.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																																						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.(4738-4740)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		Somatic				PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1603E	p.K1580E			WXS	Illumina GAIIx	Phase_I	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	26	4807	+			1603						Missense_Mutation	SNP	ENST00000393409.2	37	c.4738A>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	11	178	---	---	---	---	G	126748316	A	G	126748316	3	3	181	1	0	0	0	0	1	0	0	0	12119	131	5	2	4909	2	PLXNA1	3	126748316	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14099992	126748316	71274114	29	7984										
ATP11B	23200	broad.mit.edu	37	chr3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggagaatgagtgtaattgttCaggcaccttcaggtaaccaa	11	7	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.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*		Somatic					p.Q584*	NM_014616.2	NP_055431.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	T	182586927	C	T	182586927	4	4	181	1	0	0	0	0	0	1	0	0	1120	827	29	2	1812	2	ATP11B	3	182586927	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	55838611	182586927	15435503	30	7985										
ATP11B	23200	broad.mit.edu	37	chr3	182587059	182587060	+	Missense_Mutation	DNP	CC	CC	TT													0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	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.chr3:182587059_182587060CC>TT	ENST00000323116.5	+	17	2066_2067	c.1806_1807CC>TT	c.(1804-1809)ctCCct>ctTTct	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)			CATCAATTCTCCCTAAATGTAT	0.282																																						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|c.(1807-1809)Cct>Tct		ATPase, class VI, type 11B																																				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.chr3:182587059C>T|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	Exception_encountered	3.37:g.182587059_182587060delinsTT	ENSP00000321195:p.Pro603Ser		Somatic					p.L602L|p.P603S	NM_014616.2	NP_055431.1	WXS	Illumina GAIIx	Phase_I	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|2067	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		602|603					Q96FN1|Q9UKK7	Silent|Missense_Mutation	SNP	ENST00000323116.5	37	c.1806C>T|c.1807C>T	CCDS33896.1																																																																																				0.282	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	20|21	4	20	---	---	---	---	TT	182587060	CC	TT	182587059	3	4	181	1	0	0	0	0	1	0	0	0	1120	842	30	2	1872	2	ATP11B	3	182587059	Missense_Mutation	DNP	CC	TCGA-HC-8216-01A-11D-A29Q-08	132	182587059	15435371	31	7986										
ABCC5	10057	broad.mit.edu	37	chr3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgagaatcctccctgtggggGtcgtgtcaaaaaacttcata	10	9	2	1	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		Somatic				ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	p.T966I	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	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	5	93	---	---	---	---	A	183669276	G	A	183669276	3	1	181	1	0	0	0	0	1	0	0	0	56	1261	44	2	1460	2	ABCC5	3	183669276	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1082217	183669276	14353154	32	7987										
UGT2B11	10720	broad.mit.edu	37	chr4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	agaaaacaccacaacaccatTttctccagagctctgtacaa	4	13	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.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		Somatic				RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.N302Y	NM_001073.1	NP_001064.1	WXS	Illumina GAIIx	Phase_I	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	12	177	---	---	---	---	A	70074167	T	A	70074167	3	1	181	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	33	7988										
ZFP42	132625	broad.mit.edu	37	chr4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gaagccgtttcggtgcacttTtgaagggtgcggaaagcgct	15	8	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.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		Somatic				ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	p.F249C	NM_174900.3	NP_777560.2	WXS	Illumina GAIIx	Phase_I	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	13	59	---	---	---	---	G	188924707	T	G	188924707	3	3	181	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	34	7989										
GPR98	84059	broad.mit.edu	37	chr5	89933655	89933655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccggatgatataggccccttTaatggctctgttttgttttt	9	8	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.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			Somatic					p.F710F	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	4	41	---	---	---	---	C	89933655	T	C	89933655	2	2	181	1	0	0	0	0	0	0	0	1	6721	1751	61	2		2	GPR98	5	89933655	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		89933655	90981605	35	7990										
IL9	3578	broad.mit.edu	37	chr5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttccagaagactcttcagaaAtgtcagcgcgttgcctgccg	10	12	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.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		Somatic					p.F124L	NM_000590.1	NP_000581.1	WXS	Illumina GAIIx	Phase_I	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	7	47	---	---	---	---	G	135228145	A	G	135228145	3	3	181	1	0	0	0	0	1	0	0	0	7707	101	4	2	68	2	IL9	5	135228145	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	45294490	135228145	45687115	36	7991										
CD83	9308	broad.mit.edu	37	chr6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	attccctgaagatccgaaacActaccagctgcaactcgggg	9	13	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.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		Somatic					p.T97P	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	WXS	Illumina GAIIx	Phase_I	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	7	122	---	---	---	---	C	14131886	A	C	14131886	3	2	181	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	37	7992										
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	agaagggctccaagaaggccGtgaccaaggcgcagaagaag	15	9	0	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.chr6:26184078G>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		Somatic					p.V19M	NM_003523.2	NP_003514.2	WXS	Illumina GAIIx	Phase_I	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	4	150	---	---	---	---	A	26184078	G	A	26184078	3	1	181	1	0	0	0	0	1	0	0	0	7144	1145	40	2	57	2	HIST1H2BE	6	26184078	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	12052192	26184078	144930989	38	7993										
BACH2	60468	broad.mit.edu	37	chr6	90661075	90661075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aatgtgcttgcaaaacctgaGgtactgtgtgatgatgcatt	11	6	0	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	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.T250T	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			Somatic				RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.T250T	p.T250T	NM_021813.2	NP_068585.1	WXS	Illumina GAIIx	Phase_I	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	4	119	---	---	---	---	A	90661075	G	A	90661075	2	1	181	1	0	0	0	0	0	0	0	1	1284	987	35	2		2	BACH2	6	90661075	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	64476997	90661075	80453992	39	7994										
SOBP	55084	broad.mit.edu	37	chr6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	atggcagtgtgcccattattGtacctttaattccaccacct	6	12	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.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		Somatic					p.V128I	NM_018013.3	NP_060483.3	WXS	Illumina GAIIx	Phase_I	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	17	162	---	---	---	---	A	107827592	G	A	107827592	3	1	181	1	0	0	0	0	1	0	0	0	14912	1377	48	2	392	2	SOBP	6	107827592	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	17166517	107827592	63287475	40	7995										
ARMC2	84071	broad.mit.edu	37	chr6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tattgcaggatttagtcgtcCgtgttgtttttattcttggc	10	6	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.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		Somatic				ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	p.R537C	NM_032131.4	NP_115507.4	WXS	Illumina GAIIx	Phase_I	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	4	13	---	---	---	---	T	109274248	C	T	109274248	3	4	181	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	41	7996										
ROS1	6098	broad.mit.edu	37	chr6	117662661	117662661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tagaggagtttcaggaattaGggccaggtgtgagattgcca	15	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.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L1596L	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			Somatic				ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron	p.L1602L	NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	A	117662661	G	A	117662661	2	1	181	1	0	0	0	0	0	0	0	1	13531	991	35	2		2	ROS1	6	117662661	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	8388413	117662661	53452406	42	7997										
GPR126	57211	broad.mit.edu	37	chr6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gctttgaacagctctgccttGtttggaataattctttgggc	10	8	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.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	57211				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		Somatic				GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V256F	p.V256F	NM_020455.5	NP_065188	WXS	Illumina GAIIx	Phase_I	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	5	59	---	---	---	---	T	142691627	G	T	142691627	3	4	181	1	0	0	0	0	1	0	0	0	6640	1377	48	3	780	3	GPR126	6	142691627	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	25028966	142691627	28423440	43	7998										
MTHFD1L	25902	broad.mit.edu	37	chr6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gatggcttcgtgaacagcagCacaggcggtggagacttcac	14	10	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		Somatic					p.H343Y	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	WXS	Illumina GAIIx	Phase_I	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	25	61	---	---	---	---	T	151243383	C	T	151243383	3	4	181	1	0	0	0	0	1	0	0	0	9928	710	25	2	1065	2	MTHFD1L	6	151243383	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	8551756	151243383	19871684	44	7999										
SEMA3E	9723	broad.mit.edu	37	chr7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgctgcggaagatcgcagcgTctctgctccagtagtcactg	12	12	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		Somatic				SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	p.D199G	NM_012431.2	NP_036563.1	WXS	Illumina GAIIx	Phase_I	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	12	21	---	---	---	---	C	83037758	T	C	83037758	3	2	181	1	0	0	0	0	1	0	0	0	14028	1667	58	2	1779	2	SEMA3E	7	83037758	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		83037758	76100905	45	8000										
OCM2	4951	broad.mit.edu	37	chr7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	actggggcttttaagaatgcAccatttcctggaattctaga	9	8	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.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		Somatic					p.V107A	NM_006188.3	NP_006179.2	WXS	Illumina GAIIx	Phase_I	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	15	20	---	---	---	---	G	97614280	A	G	97614280	3	3	181	1	0	0	0	0	1	0	0	0	10822	159	6	2	13	2	OCM2	7	97614280	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14576522	97614280	61524383	46	8001										
LRRN3	54674	broad.mit.edu	37	chr7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	accattgagtctctgccaaaCctcaaggaaatcagcataca	6	12	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.chr7:110763905C>G	ENST00000422987.3	+	2	1908	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N359K	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		Somatic				IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron	p.N359K	NM_001099660.1	NP_001093130.1	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	G	110763905	C	G	110763905	3	3	181	1	0	0	0	0	1	0	0	0	9036	506	18	4	1079	4	LRRN3	7	110763905	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13149625	110763905	48374758	47	8002										
C7orf45	136263	broad.mit.edu	37	chr7	129853359	129853359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	atgaaggcagtgggacaagtActtcagtaaggaaaggtgag	15	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.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		Somatic					p.T75S	NM_145268.3	NP_660311.1	WXS	Illumina GAIIx	Phase_I					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	5	66	---	---	---	---	T	129853359	A	T	129853359	3	4	181	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	48	8003										
C7orf45	136263	broad.mit.edu	37	chr7	129856199	129856221	+	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	ATGGTTGGCGCACCATTCCCGAC	-													0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	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)gaatggttggcgcaccattcccgacagfs		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		Somatic					p.WLAHHSRQ209fs	NM_145268.3	NP_660311.1	WXS	Illumina GAIIx	Phase_I					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	181	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	49	8004										
ANK1	286	broad.mit.edu	37	chr8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccgtcacctgactcacggtgGgggaatgtgtgattcgggct	15	10	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.chr8:41529908G>A	ENST00000347528.4	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396942.1_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	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		Somatic				ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L	p.P1687L			WXS	Illumina GAIIx	Phase_I	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	8	96	---	---	---	---	A	41529908	G	A	41529908	3	1	181	1	0	0	0	0	1	0	0	0	620	1232	43	2	931	2	ANK1	8	41529908	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		41529908	104834114	50	8005										
PLAT	5327	broad.mit.edu	37	chr8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gagccctcctttgatgcgaaActgaggctggctgtactgtc	12	11	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.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000270189.6_Intron	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		Somatic				PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I	p.F309I	NM_000930.3	NP_000921.1	WXS	Illumina GAIIx	Phase_I	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	6	58	---	---	---	---	T	42038168	A	T	42038168	3	4	181	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	51	8006										
CHD7	55636	broad.mit.edu	37	chr8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	acacccctcccgttcctcagGtgccccatggtggcagtggt	11	16	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.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000525508.1_Missense_Mutation_p.V113L|CHD7_ENST00000524602.1_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		Somatic				CHD7_ENST00000525508.1_Missense_Mutation_p.V113L|CHD7_ENST00000524602.1_Missense_Mutation_p.V113L	p.V113L	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	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	7	34	---	---	---	---	C	61654328	G	C	61654328	3	2	181	1	0	0	0	0	1	0	0	0	3330	1261	44	4	339	4	CHD7	8	61654328	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	19616160	61654328	84709694	52	8007										
RUNX1T1	862	broad.mit.edu	37	chr8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttctctgtctgttagtctgtGatcaatcatttcttcttgac	6	9	7	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.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000422361.2_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		Somatic				RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000422361.2_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	WXS	Illumina GAIIx	Phase_I	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	8	171	---	---	---	---	C	92999165	G	C	92999165	3	2	181	1	0	0	0	0	1	0	0	0	13747	1290	45	4	807	4	RUNX1T1	8	92999165	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31344837	92999165	53364857	53	8008										
TMEM71	137835	broad.mit.edu	37	chr8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cacagactctgcattcatctTccctgactcccagtcatcag	5	16	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.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E	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		Somatic				TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E	p.K160E	NM_144649.2	NP_653250.2	WXS	Illumina GAIIx	Phase_I	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	8	109	---	---	---	---	C	133740185	T	C	133740185	3	2	181	1	0	0	0	0	1	0	0	0	16197	1792	62	2	372	2	TMEM71	8	133740185	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	40741020	133740185	12623837	54	8009										
ST3GAL1	6482	broad.mit.edu	37	chr8	134488181	134488181	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gtggtggccaccatggtgtgGgagtagttcaggaagaagga	18	5	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.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S|ST3GAL1_ENST00000522652.1_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			Somatic				ST3GAL1_ENST00000399640.2_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000521180.1_Silent_p.S29S	p.S29S			WXS	Illumina GAIIx	Phase_I	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	4	125	---	---	---	---	C	134488181	G	C	134488181	2	2	181	1	0	0	0	0	0	0	0	1	15213	1219	43	4		4	ST3GAL1	8	134488181	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	747996	134488181	11875841	55	8010										
ARC	23237	broad.mit.edu	37	chr8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gggtccggtcactggccacgGactcgctgttgggggcgggc	19	12	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.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		Somatic					p.S387F	NM_015193.4	NP_056008.1	WXS	Illumina GAIIx	Phase_I	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	6	24	---	---	---	---	A	143694473	G	A	143694473	3	1	181	1	0	0	0	0	1	0	0	0	841	1174	41	2	34	2	ARC	8	143694473	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	9206292	143694473	2669549	56	8011										
GLDC	2731	broad.mit.edu	37	chr9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tggggaatgcagaaggtcttGtgaagatttaggtgcgagac	16	4	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.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		Somatic					p.H753Q	NM_000170.2	NP_000161.2	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	T	6554725	G	T	6554725	3	4	181	1	0	0	0	0	1	0	0	0	6433	1368	48	3	831	3	GLDC	9	6554725	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		6554725	134658706	57	8012										
TRPM6	140803	broad.mit.edu	37	chr9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggcagccagggcttctcgtgGtaggtcatgatgtagcgata	15	8	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.chr9:77390917G>T	ENST00000360774.1	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron	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*		Somatic				TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376872.3_Intron	p.Y1095*			WXS	Illumina GAIIx	Phase_I	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	6	113	---	---	---	---	T	77390917	G	T	77390917	4	4	181	1	0	0	0	0	0	1	0	0	16587	1256	44	3	2847	3	TRPM6	9	77390917	Nonsense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	70836192	77390917	63822514	58	8013										
OR13C5	138799	broad.mit.edu	37	chr9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	acgtgtaagagacaataattAataacaaaggtgtcaatagg	9	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.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*		Somatic					p.L213*	NM_001004482.1	NP_001004482.1	WXS	Illumina GAIIx	Phase_I	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	8	176	---	---	---	---	T	107361057	A	T	107361057	4	4	181	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	59	8014										
CELF2	10659	broad.mit.edu	37	chr10	11317020	11317020	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccttgtgtgttcatccgcagCtcctgcagcaggccacctcc	9	17	1	0	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_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|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.(757-759)Ctc>Atc		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			Somatic				CELF2_ENST00000450189.1_Splice_Site_p.L260I|CELF2_ENST00000417956.2_Splice_Site_p.L229I|CELF2_ENST00000609692.1_Splice_Site_p.L229I|CELF2_ENST00000315874.4_Splice_Site_p.L229I|CELF2_ENST00000537122.1_Splice_Site_p.L142I|CELF2_ENST00000354440.2_Splice_Site_p.L229I|CELF2_ENST00000399850.3_Splice_Site_p.L229I|CELF2_ENST00000427450.1_Splice_Site_p.L229I|CELF2_ENST00000354897.3_Splice_Site_p.L229I|CELF2_ENST00000542579.1_Splice_Site_p.L260I|CELF2_ENST00000608830.1_Splice_Site_p.L229I|CELF2_ENST00000416382.2_Splice_Site_p.L253I	p.L253I	NM_001025077.2	NP_001020248.1	WXS	Illumina GAIIx	Phase_I	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.757C>A	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	26	129	---	---	---	---	A	11317020	C	A	11317020	5	1	181	1	0	0	0	0	0	0	1	0	3216	811	28	3	865	3	CELF2	10	11317020	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		11317020	124217727	60	8015										
SGMS1	259230	broad.mit.edu	37	chr10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggagactcggcacaagggggGttttttgaaatcctcttggg	15	7	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.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000492601.2_5'Flank|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S|SGMS1_ENST00000429490.1_Intron	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		Somatic				SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S|SGMS1_ENST00000429490.1_Intron	p.P47S	NM_147156.3	NP_671512.1	WXS	Illumina GAIIx	Phase_I	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	7	72	---	---	---	---	A	52103736	G	A	52103736	3	1	181	1	0	0	0	0	1	0	0	0	14214	1261	44	2	1122	2	SGMS1	10	52103736	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	40786716	52103736	83431011	61	8016										
TTC18	118491	broad.mit.edu	37	chr10	75029381	75029381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	taaacactcactttcaggcaGaccagagccagatatgccca	7	13	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.chr10:75029381G>A	ENST00000310715.3	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000394865.1_Silent_p.V1046V|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			Somatic				TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000394865.1_Silent_p.V1046V|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000355577.3_Silent_p.V545V	p.V1076V			WXS	Illumina GAIIx	Phase_I	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	7	66	---	---	---	---	A	75029381	G	A	75029381	2	1	181	1	0	0	0	0	0	0	0	1	16682	929	33	2		2	TTC18	10	75029381	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	22925645	75029381	60505366	62	8017										
C10orf76	79591	broad.mit.edu	37	chr10	103649193	103649193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tcctctgacagttgggatatGtgattcacagcagcgtagga	12	8	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.chr10:103649193G>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			Somatic				C10orf76_ENST00000495001.1_5'UTR	p.H612H	NM_024541.2	NP_078817.2	WXS	Illumina GAIIx	Phase_I	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	5	325	---	---	---	---	A	103649193	G	A	103649193	2	1	181	1	0	0	0	0	0	0	0	1	1616	1368	48	2		2	C10orf76	10	103649193	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	28619812	103649193	31885554	63	8018										
SOX6	55553	broad.mit.edu	37	chr11	16071443	16071443	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tttacaggctctgctgtcttGggtcgggatgagagattcag	14	7	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.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528252.1_Silent_p.P390P|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			Somatic				SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P|SOX6_ENST00000316399.6_Silent_p.P431P	p.P431P			WXS	Illumina GAIIx	Phase_I	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	13	255	---	---	---	---	T	16071443	G	T	16071443	2	4	181	1	0	0	0	0	0	0	0	1	14955	1335	47	1		1	SOX6	11	16071443	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		16071443	118935073	64	8019										
NAV2	89797	broad.mit.edu	37	chr11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggagtaattaacacacctgaGctcaactgcaaaggtaaagt	9	8	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.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_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000396085.1_Missense_Mutation_p.E1722D	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		Somatic				NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D	p.E1722D	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	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	3	35	---	---	---	---	T	20099637	G	T	20099637	3	4	181	1	0	0	0	0	1	0	0	0	10184	962	34	3	5369	3	NAV2	11	20099637	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4028194	20099637	114906879	65	8020										
HIPK3	10114	broad.mit.edu	37	chr11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	caaaccatcattattgccgaCtccccgagtcctgcagtgag	8	14	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.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_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		Somatic				HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E|HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E	p.D861E	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	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	7	98	---	---	---	---	A	33370281	C	A	33370281	3	1	181	1	0	0	0	0	1	0	0	0	7118	564	20	3	2629	3	HIPK3	11	33370281	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13270644	33370281	101636235	66	8021										
AHNAK	79026	broad.mit.edu	37	chr11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	caggttcacatccacttctgGaccttctcctttgaagccag	7	14	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.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_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		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P3950S	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	21	390	---	---	---	---	A	62290041	G	A	62290041	3	1	181	1	0	0	0	0	1	0	0	0	414	1174	41	2	5944	2	AHNAK	11	62290041	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	28919760	62290041	72716475	67	8022										
KDM2A	22992	broad.mit.edu	37	chr11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccttgtagataagttggagtCtctgccactgcacaagaaat	9	9	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.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		Somatic				KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	p.S470Y	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	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	28	182	---	---	---	---	A	66999361	C	A	66999361	3	1	181	1	0	0	0	0	1	0	0	0	8124	913	32	3	1451	3	KDM2A	11	66999361	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4709320	66999361	68007155	68	8023										
ODZ4	26011	broad.mit.edu	37	chr11	78443391	78443391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggcacaatggggcctttctcTgcacaggagctggcgaagga	15	10	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.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			Somatic					p.A1036A	NM_001098816.2	NP_001092286.2	WXS	Illumina GAIIx	Phase_I					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	22	53	---	---	---	---	C	78443391	T	C	78443391	2	2	181	1	0	0	0	0	0	0	0	1	10837	1567	55	2		2	ODZ4	11	78443391	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	11444030	78443391	56563125	69	8024										
TECTA	7007	broad.mit.edu	37	chr11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tagtgacttctttgcctgtcAccttagacttggggacagtg	11	9	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.chr11:120996041A>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		Somatic				TECTA_ENST00000264037.2_Missense_Mutation_p.T412S	p.T412S			WXS	Illumina GAIIx	Phase_I	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	9	221	---	---	---	---	T	120996041	A	T	120996041	3	4	181	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	70	8025										
MLL2	8085	broad.mit.edu	37	chr12	49433964	49433964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgaaacgcatgggagaggggGtgcccacaaatgcacccgtc	14	11	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.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		Somatic					p.T2530I	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	4	37	---	---	---	---	A	49433964	G	A	49433964	3	1	181	1	0	0	0	0	1	0	0	0	9621	1261	44	2	9120	2	MLL2	12	49433964	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		49433964	84417931	71	8026										
KRT75	9119	broad.mit.edu	37	chr12	52820636	52820636	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aaactccctctccactcaacCtgattgggaagagcagggag	10	12	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.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			Somatic				RP11-1020M18.10_ENST00000548135.1_RNA		NM_004693.2	NP_004684.2	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	A	52820636	C	A	52820636	5	1	181	1	0	0	0	0	0	0	1	0	8488	695	24	1	281	1	KRT75	12	52820636	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	3386672	52820636	81031259	72	8027										
C12orf64	283310	broad.mit.edu	37	chr12	80749588	80749588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gggcattgatgaatgcactcTatacaaatgtttggagaatg	11	5	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.chr12:80749588T>C	ENST00000547103.1	+	46	5609	c.5603T>C	c.(5602-5604)cTa>cCa	p.L1868P	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Missense_Mutation_p.L1880P			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		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P	p.L1880P	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					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	10	85	---	---	---	---	C	80749588	T	C	80749588	3	2	181	1	0	0	0	0	1	0	0	0	1707	1522	53	2	5821	2	C12orf64	12	80749588	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	27928952	80749588	53102307	73	8028										
AMDHD1	144193	broad.mit.edu	37	chr12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tacagattaacttccatgggGatgaactccacccgatgaag	9	10	0	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		Somatic					p.D262Y	NM_152435.2	NP_689648.2	WXS	Illumina GAIIx	Phase_I	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	14	87	---	---	---	---	T	96354372	G	T	96354372	3	4	181	1	0	0	0	0	1	0	0	0	567	1174	41	3	802	3	AMDHD1	12	96354372	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	15604784	96354372	37497523	74	8029										
GNPTAB	79158	broad.mit.edu	37	chr12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	catgagaaacgttggtacgaAtcattttaaaagcgatttct	8	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.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		Somatic					p.I1126N	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	T	102151047	A	T	102151047	3	4	181	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	75	8030										
STAB2	55576	broad.mit.edu	37	chr12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tggtcagatgaacatcgaatAtatgaataacacagacatgt	8	6	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.chr12:104046416A>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		Somatic					p.Y447C	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	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	9	29	---	---	---	---	G	104046416	A	G	104046416	3	3	181	1	0	0	0	0	1	0	0	0	15237	449	16	2	1386	2	STAB2	12	104046416	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	1895369	104046416	29805479	76	8031										
WSCD2	9671	broad.mit.edu	37	chr12	108603945	108603946	+	Missense_Mutation	DNP	GC	GC	TT													0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	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.chr12:108603945_108603946GC>TT	ENST00000332082.4	+	5	1363_1364	c.545_546GC>TT	c.(544-546)gGC>gTT	p.G182V	WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V|WSCD2_ENST00000261400.3_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						TGCTACTGCGGCCACAAGATCC	0.668																																						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|c.(544-546)ggC>ggT		WSC domain containing 2																																				SO:0001583	missense	9671					integral to membrane		g.chr12:108603945G>T|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		Exception_encountered	12.37:g.108603945_108603946delinsTT	ENSP00000331933:p.Gly182Val		Somatic				WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V|WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G	p.G182V|p.G182G			WXS	Illumina GAIIx	Phase_I	Q2TBF2	WSCD2_HUMAN			5	1363|1364	+			182			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation|Silent	SNP	ENST00000332082.4	37	c.545G>T|c.546C>T	CCDS41828.1																																																																																				0.668	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		4	53	4	53	---	---	---	---	TT	108603946	GC	TT	108603945	3	4	181	1	0	0	0	0	1	0	0	0	17404	1203	42	3	555	3	WSCD2	12	108603945	Missense_Mutation	DNP	GC	TCGA-HC-8216-01A-11D-A29Q-08	4557529	108603945	25247950	77	8032										
SLITRK5	26050	broad.mit.edu	37	chr13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	cccctttgaagccccctaagGggactcgccaacccaacaag	8	17	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.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		Somatic				SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	p.G333R	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	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	4	161	---	---	---	---	C	88328640	G	C	88328640	3	2	181	1	0	0	0	0	1	0	0	0	14746	1232	43	4	999	4	SLITRK5	13	88328640	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		88328640	26841238	78	8033										
PYGL	5836	broad.mit.edu	37	chr14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttcttcaatttcttctaactCttctatatccaatccaagct	1	12	6	0	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_ENST00000532462.1_Missense_Mutation_p.E122K|PYGL_ENST00000544180.2_Missense_Mutation_p.E88K	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		Somatic				PYGL_ENST00000532462.1_Missense_Mutation_p.E122K|PYGL_ENST00000544180.2_Missense_Mutation_p.E88K	p.E122K	NM_002863.4	NP_002854.3	WXS	Illumina GAIIx	Phase_I	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	4	36	---	---	---	---	T	51401885	C	T	51401885	3	4	181	1	0	0	0	0	1	0	0	0	12861	922	32	2	2251	2	PYGL	14	51401885	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		51401885	55947655	79	8034										
ZFYVE26	23503	broad.mit.edu	37	chr14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttctttcaacaatgttagtgCtgttacctgtaagtcaaaga	7	7	3	1	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		Somatic				ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	p.A342T	NM_015346.3	NP_056161.2	WXS	Illumina GAIIx	Phase_I	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	10	59	---	---	---	---	T	68272329	C	T	68272329	3	4	181	1	0	0	0	0	1	0	0	0	17665	797	28	2	6739	2	ZFYVE26	14	68272329	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	16870444	68272329	39077211	80	8035										
EIF2AK4	440275	broad.mit.edu	37	chr15	40313180	40313180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gccatcaacctaacccagaaActctggacagcaggcatcac	7	15	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			Somatic				EIF2AK4_ENST00000382727.2_Silent_p.K1390K	p.K1418K	NM_001013703.2	NP_001013725.2	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	G	40313180	A	G	40313180	2	3	181	1	0	0	0	0	0	0	0	1	4999	40	2	2		2	EIF2AK4	15	40313180	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		40313180	62218212	81	8036										
SEMA6D	80031	broad.mit.edu	37	chr15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	caactctccccagaaatagcCcaaccaagcgagtggatgtc	8	14	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.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	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		Somatic				SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	p.P941A	NM_153618.1	NP_705871.1	WXS	Illumina GAIIx	Phase_I	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	5	161	---	---	---	---	G	48063581	C	G	48063581	3	3	181	1	0	0	0	0	1	0	0	0	14042	623	22	4	2934	4	SEMA6D	15	48063581	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	7750401	48063581	54467811	82	8037										
VPS13C	54832	broad.mit.edu	37	chr15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ctgtcctttaaagagtagtcAaaagtagaagcagtgccctc	9	9	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	36	---	---	---	---	T	62212501	A	T	62212501	3	4	181	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	14148920	62212501	40318891	83	8038										
NEO1	4756	broad.mit.edu	37	chr15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ccaaagatgtgaaacctccaGatctctggatccatcatgag	8	11	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.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H			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		Somatic				NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H	p.D1162H			WXS	Illumina GAIIx	Phase_I	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	7	51	---	---	---	---	C	73580727	G	C	73580727	3	2	181	1	0	0	0	0	1	0	0	0	10336	942	33	4	3578	4	NEO1	15	73580727	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	11368226	73580727	28950665	84	8039										
OTOA	146183	broad.mit.edu	37	chr16	21690532	21690532	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggatctcatacagtttcaaaGgtaaaatgccctagaggaga	10	7	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.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.(178-180)aGc>aTc		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			Somatic				OTOA_ENST00000286149.4_Splice_Site_p.S60I	p.S60I	NM_144672.3	NP_653273.3	WXS	Illumina GAIIx	Phase_I	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.179G>T		.	.	.	.	.	.	.	.	.	.	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	6	55	---	---	---	---	T	21690532	G	T	21690532	5	4	181	1	0	0	0	0	0	0	1	0	11302	1014	35	1	193	1	OTOA	16	21690532	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		21690532	68664221	85	8040										
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	12	12	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.chr17:7578509A>C	ENST00000269305.4	-	5	610	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000420246.2_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_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)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_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	WXS	Illumina GAIIx	Phase_I	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	13	31	---	---	---	---	C	7578509	A	C	7578509	3	2	181	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	86	8041										
MYH13	8735	broad.mit.edu	37	chr17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gctgctggttgatgcgggtgAccatccacaggaacatcttc	12	11	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		Somatic				MYH13_ENST00000252172.4_Missense_Mutation_p.V442D	p.V442D			WXS	Illumina GAIIx	Phase_I	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	10	135	---	---	---	---	T	10248872	A	T	10248872	3	4	181	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	87	8042										
TOP3A	7156	broad.mit.edu	37	chr17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	acctttaattctgtggaagaTttctggtacaaaagcctgaa	8	7	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.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V|TOP3A_ENST00000540524.1_5'Flank	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		Somatic				TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	p.I266V	NM_004618.3	NP_004609.1	WXS	Illumina GAIIx	Phase_I	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	10	41	---	---	---	---	C	18205596	T	C	18205596	3	2	181	1	0	0	0	0	1	0	0	0	16364	1493	52	2	2261	2	TOP3A	17	18205596	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	7956724	18205596	62989614	88	8043										
LIG3	3980	broad.mit.edu	37	chr17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tcagacctctgtgtgagcggCggaagtttcttcatgacaac	11	10	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.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		Somatic				LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	p.R614W	NM_013975.3	NP_039269.2	WXS	Illumina GAIIx	Phase_I	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	6	62	---	---	---	---	T	33324773	C	T	33324773	3	4	181	1	0	0	0	0	1	0	0	0	8782	759	27	2	1882	2	LIG3	17	33324773	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	15119177	33324773	47870437	89	8044										
GSDMB	55876	broad.mit.edu	37	chr17	38062397	38062397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tcctgccgaatatcctccttGccgaggcacttagcgaggga	11	13	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.chr17:38062397G>A	ENST00000394179.1	-	7	970	c.840C>T	c.(838-840)ggC>ggT	p.G280G	GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000394175.2_Silent_p.G263G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G			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			Somatic				GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G	p.G263G	NM_018530.2	NP_061000.2	WXS	Illumina GAIIx	Phase_I	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	10	73	---	---	---	---	A	38062397	G	A	38062397	2	1	181	1	0	0	0	0	0	0	0	1	6817	1306	46	2		2	GSDMB	17	38062397	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4737624	38062397	43132813	90	8045										
KRT23	25984	broad.mit.edu	37	chr17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	atcttccctgggacctgtatCcaccttcacattgacattga	6	13	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.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	KRT23_ENST00000436344.3_Missense_Mutation_p.D93N|AC004231.2_ENST00000418393.1_RNA	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		Somatic				AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D93N	p.D230N	NM_015515.3	NP_056330.3	WXS	Illumina GAIIx	Phase_I	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	19	157	---	---	---	---	T	39084808	C	T	39084808	3	4	181	1	0	0	0	0	1	0	0	0	8460	855	30	2	600	2	KRT23	17	39084808	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1022411	39084808	42110402	91	8046										
MKS1	54903	broad.mit.edu	37	chr17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tggtggtgcaggtctgtgttActcctgagagctgctggaat	15	7	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.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|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		Somatic				MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000546108.1_Missense_Mutation_p.V151G	p.V354G	NM_017777.3	NP_060247.2	WXS	Illumina GAIIx	Phase_I	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	19	35	---	---	---	---	C	56285908	A	C	56285908	3	2	181	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	17201100	56285908	24909302	92	8047										
PIK3C3	5289	broad.mit.edu	37	chr18	39607410	39607410	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ctcaaactatttttaaggtaTgtgatagtggaatgtgaaga	10	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.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)	Somatic				PIK3C3_ENST00000398870.3_Silent_p.Y433Y|PIK3C3_ENST00000593098.1_5'UTR	p.Y496Y	NM_002647.2	NP_002638.2	WXS	Illumina GAIIx	Phase_I	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	3	38	---	---	---	---	C	39607410	T	C	39607410	2	2	181	1	0	0	0	0	0	0	0	1	11912	1471	51	2		2	PIK3C3	18	39607410	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		39607410	38469838	93	8048										
EEF2	1938	broad.mit.edu	37	chr19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgaagcgtgtctccccggccCgggccgaggcgatgatgccc	15	15	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.chr19:3984203C>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		Somatic				EEF2_ENST00000600720.1_5'UTR	p.R50P	NM_001961.3	NP_001952.1	WXS	Illumina GAIIx	Phase_I	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	32	121	---	---	---	---	G	3984203	C	G	3984203	3	3	181	1	0	0	0	0	1	0	0	0	4929	652	23	4	2483	4	EEF2	19	3984203	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3984203	55144780	94	8049										
CREB3L3	84699	broad.mit.edu	37	chr19	4170156	4170156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ggatgtcagcttgcactgctCagaatcaggagttacagagg	13	8	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.chr19:4170156C>G	ENST00000078445.2	+	7	988	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E|CREB3L3_ENST00000602147.1_Nonsense_Mutation_p.S245*|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E	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		Somatic				CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E	p.S245*			WXS	Illumina GAIIx	Phase_I	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	6	107	---	---	---	---	G	4170156	C	G	4170156	3	3	181	1	0	0	0	0	1	0	0	0	3858	827	29	4	867	4	CREB3L3	19	4170156	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	185953	4170156	54958827	95	8050										
MUC16	94025	broad.mit.edu	37	chr19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	taatgactggctgatgcttcTtcctggagcactagtaacaa	9	9	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.chr19:9086744T>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*		Somatic					p.R1691*	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	5	119	---	---	---	---	A	9086744	T	A	9086744	4	1	181	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	96	8051										
LDLR	3949	broad.mit.edu	37	chr19	11233932	11233932	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gccgtaaggacacagcacacAaccacccgacctgttcccga	8	17	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.chr19:11233932A>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			Somatic				LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T	p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	WXS	Illumina GAIIx	Phase_I	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	9	83	---	---	---	---	T	11233932	A	T	11233932	2	4	181	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	97	8052										
ANKLE1	126549	broad.mit.edu	37	chr19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttccccttgaaactgtggacAaacatgggagctcggcgtcc	11	12	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.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E	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		Somatic				ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E	p.K202E	NM_152363.4	NP_689576	WXS	Illumina GAIIx	Phase_I	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	5	125	---	---	---	---	G	17394177	A	G	17394177	3	3	181	1	0	0	0	0	1	0	0	0	632	131	5	2	622	2	ANKLE1	19	17394177	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	6160245	17394177	41734806	98	8053										
SIGLEC11	114132	broad.mit.edu	37	chr19	50461937	50461937	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	agagagacgtgctgggagccCagagggtgctgagcgtggca	19	8	0	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.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			Somatic				SIGLEC11_ENST00000426971.2_Silent_p.L442L	p.L442L	NM_052884.2	NP_443116.2	WXS	Illumina GAIIx	Phase_I	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	12	142	---	---	---	---	A	50461937	C	A	50461937	2	1	181	1	0	0	0	0	0	0	0	1	14307	581	21	1		1	SIGLEC11	19	50461937	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	33067760	50461937	8667046	99	8054										
LILRB2	10288	broad.mit.edu	37	chr19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gtaggtcacatcctggggggCttcagatgcagcagcctgca	14	11	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.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_ENST00000434421.1_Missense_Mutation_p.A440S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.A555S	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	10288				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		Somatic				LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S	p.A555S	NM_001278403.1	NP_001265332.1	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	A	54778668	C	A	54778668	3	1	181	1	0	0	0	0	1	0	0	0	8791	797	28	3	134	3	LILRB2	19	54778668	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4316731	54778668	4350315	100	8055										
TMEM86B	255043	broad.mit.edu	37	chr19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	agcgaaccaggacagctggtCctcgggaatccagaggcaga	14	11	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.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		Somatic				AC010327.2_ENST00000598855.1_3'UTR	p.D43Y	NM_173804.4	NP_776165.3	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	A	55739730	C	A	55739730	3	1	181	1	0	0	0	0	1	0	0	0	16206	855	30	3	561	3	TMEM86B	19	55739730	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	961062	55739730	3389253	101	8056										
DEFB125	245938	broad.mit.edu	37	chr20	76981	76981	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ctgaggccactactcccgagActactatgccaccatctgag	8	15	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.chr20:76981A>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		Somatic				DEFB125_ENST00000608838.1_3'UTR	p.T132S	NM_153325.2	NP_697020.2	WXS	Illumina GAIIx	Phase_I	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	8	218	---	---	---	---	T	76981	A	T	76981	3	4	181	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	102	8057										
MYLK2	85366	broad.mit.edu	37	chr20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgggcccccggcagccctgcCccagcagactgcgacacctg	12	19	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.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		Somatic				MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L	p.P98L			WXS	Illumina GAIIx	Phase_I	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	7	40	---	---	---	---	T	30408169	C	T	30408169	3	4	181	1	0	0	0	0	1	0	0	0	10057	623	22	2	299	2	MYLK2	20	30408169	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	30331188	30408169	32617351	103	8058										
MYLK2	85366	broad.mit.edu	37	chr20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	ttccaggctgttccctcagaGaaatccgaggtggggcaggc	14	11	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.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		Somatic				MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D	p.E236D			WXS	Illumina GAIIx	Phase_I	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	22	118	---	---	---	---	T	30409476	G	T	30409476	3	4	181	1	0	0	0	0	1	0	0	0	10057	933	33	3	718	3	MYLK2	20	30409476	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1307	30409476	32616044	104	8059										
KIF3B	9371	broad.mit.edu	37	chr20	30897748	30897748	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gcccatgaaatgcccaagacCttcacctttgatgccgtcta	7	14	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.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			Somatic					p.T56T	NM_004798.3	NP_004789.1	WXS	Illumina GAIIx	Phase_I	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	5	61	---	---	---	---	G	30897748	C	G	30897748	2	3	181	1	0	0	0	0	0	0	0	1	8301	668	24	4		4	KIF3B	20	30897748	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	488272	30897748	32127772	105	8060										
JPH2	57158	broad.mit.edu	37	chr20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	aagtgcgagcaatgttggacTcctggttggcagccagggcg	16	9	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.chr20:42747201T>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		Somatic					p.E411G	NM_020433.4	NP_065166.2	WXS	Illumina GAIIx	Phase_I	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	7	191	---	---	---	---	C	42747201	T	C	42747201	3	2	181	1	0	0	0	0	1	0	0	0	7961	1551	54	2	870	2	JPH2	20	42747201	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	11849453	42747201	20278319	106	8061										
LZTR1	8216	broad.mit.edu	37	chr22	21349317	21349317	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gaccagccagtggacattggTagggagccccgttccccttc	12	14	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.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_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			Somatic				LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site		NM_006767.3	NP_006758.2	WXS	Illumina GAIIx	Phase_I	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	9	92	---	---	---	---	G	21349317	T	G	21349317	5	3	181	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	107	8062										
ARSE	415	broad.mit.edu	37	chrX	2876456	2876456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	gtacagcgagcatcgctggcAgccagctcctgaaacacaaa	10	13	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.chrX:2876456A>G	ENST00000381134.3	-	3	110	c.44T>C	c.(43-45)cTg>cCg	p.L15P	ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000545496.1_Missense_Mutation_p.L40P	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		Somatic				ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR	p.L40P	NM_001282628.1	NP_001269557.1	WXS	Illumina GAIIx	Phase_I	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	4	31	---	---	---	---	G	2876456	A	G	2876456	3	3	181	1	0	0	0	0	1	0	0	0	990	188	7	2	1761	2	ARSE	23	2876456	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		2876456	152394104	108	8063										
TFDP3	51270	broad.mit.edu	37	chrX	132351872	132351872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tgctggcagctctgaacttgGcgaccagctcgcccaccact	10	16	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		Somatic					p.A139V	NM_016521.2	NP_057605.3	WXS	Illumina GAIIx	Phase_I	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	4	47	---	---	---	---	A	132351872	G	A	132351872	3	1	181	1	0	0	0	0	1	0	0	0	15796	1203	42	2	805	2	TFDP3	23	132351872	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	129475416	132351872	22918688	109	8064										
RBMX	27316	broad.mit.edu	37	chrX	135961213	135961213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0636363636363636	7	1	1.2338502298761	2.6279407493465	0.722683706070288	1	1	0	tggctgcatccttagcgtctGctgggctttcaaaggtgaca	12	10	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.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_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|SNORD61_ENST00000384252.1_RNA	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		Somatic				RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron	p.A60E			WXS	Illumina GAIIx	Phase_I	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	5	100	---	---	---	---	T	135961213	G	T	135961213	3	4	181	1	0	0	0	0	1	0	0	0	13151	1319	46	3	1079	3	RBMX	23	135961213	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	3609341	135961213	19309347	110	8065										
NBPF1	55672	broad.mit.edu	37	chr1	16890543	16890543	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gcgaagctgatgtgctgttcCtcaaatgagtaaaacacact	9	9	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.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		Somatic					p.E1105D	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	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	52	770	---	---	---	---	G	16890543	C	G	16890543	3	3	182	1	0	0	0	0	1	0	0	0	10192	680	24	4	108	4	NBPF1	1	16890543	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08		16890543	232360078	1	8066										
OR10Z1	128368	broad.mit.edu	37	chr1	158577018	158577018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tcgtgtacctgaggcccaaaGccagctactctcttgagaga	10	12	1	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		Somatic					p.A264T	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	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	5	243	---	---	---	---	A	158577018	G	A	158577018	3	1	182	1	0	0	0	0	1	0	0	0	10923	971	34	2	792	2	OR10Z1	1	158577018	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	141686475	158577018	90673603	2	8067										
XPR1	9213	broad.mit.edu	37	chr1	180793908	180793908	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gctgtatttaaacttgaaacAgatagaagtatatggccctt	8	6	0	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.chr1:180793908A>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			Somatic				XPR1_ENST00000367589.3_Silent_p.T261T	p.T261T	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	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	10	43	---	---	---	---	T	180793908	A	T	180793908	2	4	182	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	3	8068										
POTEF	728378	broad.mit.edu	37	chr2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gcccacgttgctcttgccacTccccctgcagcaggggaagc	11	17	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.chr2:130877866T>C	ENST00000409914.2	-	3	622	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000361163.4_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000357462.5_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		Somatic				POTEF_ENST00000409914.2_Missense_Mutation_p.S75G|POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G	p.S75G			WXS	Illumina GAIIx	Phase_I	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	3	202	---	---	---	---	C	130877866	T	C	130877866	3	2	182	1	0	0	0	0	1	0	0	0	12265	1551	54	2	3064	2	POTEF	2	130877866	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		130877866	112321507	4	8069										
NAALADL2	254827	broad.mit.edu	37	chr3	175041963	175041963	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tagcttgcttccctcttttaGctttcctcattggaaaaggc	7	11	2	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.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			Somatic				NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	WXS	Illumina GAIIx	Phase_I	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	5	173	---	---	---	---	T	175041963	G	T	175041963	5	4	182	1	0	0	0	0	0	0	1	0	10130	985	34	3	957	3	NAALADL2	3	175041963	Splice_Site	SNP	G	TCGA-HC-8256-01A-11D-2260-08		175041963	22980467	5	8070										
ATP13A5	344905	broad.mit.edu	37	chr3	193051645	193051645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tgtatagtttgaagttcagaGgccgggggtacaggatggat	16	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.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		Somatic					p.P389L	NM_198505.2	NP_940907.2	WXS	Illumina GAIIx	Phase_I	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	8	31	---	---	---	---	A	193051645	G	A	193051645	3	1	182	1	0	0	0	0	1	0	0	0	1127	1000	35	2	2568	2	ATP13A5	3	193051645	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	18009682	193051645	4970785	6	8071										
SHROOM3	57619	broad.mit.edu	37	chr4	77661470	77661470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	cgctcctgacctcgggagccAtctggaccggcaggtttcct	12	15	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.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		Somatic					p.H715R	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	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	18	70	---	---	---	---	G	77661470	A	G	77661470	3	3	182	1	0	0	0	0	1	0	0	0	14295	217	8	2	2162	2	SHROOM3	4	77661470	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		77661470	113492806	7	8072										
GPR98	84059	broad.mit.edu	37	chr5	89939768	89939768	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tgatggtctaattgtgatgaTaaatgaaagcaaaggagatg	12	2	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.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		Somatic					p.I901T	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	C	89939768	T	C	89939768	3	2	182	1	0	0	0	0	1	0	0	0	6721	1406	49	2	2756	2	GPR98	5	89939768	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		89939768	90975492	8	8073										
THEMIS	387357	broad.mit.edu	37	chr6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gtcctcttcaatggaaagatCcctgacagacaccttcacat	6	13	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.chr6:128134393C>A	ENST00000368248.2	-	4	1541	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368250.1_Missense_Mutation_p.D386Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y	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		Somatic				THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y	p.D386Y			WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	A	128134393	C	A	128134393	3	1	182	1	0	0	0	0	1	0	0	0	15857	855	30	3	665	3	THEMIS	6	128134393	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08		128134393	42980674	9	8074										
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254909	24254909	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gctaaccacacatgtggtgtGaagagcactgacgggaaaca	12	9	0	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.chr8:24254909G>A	ENST00000256412.4	+	6	787	c.567G>A	c.(565-567)gtG>gtA	p.V189V	ADAMDEC1_ENST00000522298.1_Silent_p.V110V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_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			Somatic				ADAMDEC1_ENST00000256412.4_Silent_p.V189V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.V110V	p.V110V	NM_001145271.1	NP_001138743.1	WXS	Illumina GAIIx	Phase_I	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	35	137	---	---	---	---	A	24254909	G	A	24254909	2	1	182	1	0	0	0	0	0	0	0	1	254	1277	45	2		2	ADAMDEC1	8	24254909	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		24254909	122109113	10	8075										
ADCY8	114	broad.mit.edu	37	chr8	131859738	131859738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	caggttcttcaagggtatcgActtgtcaaaatcacaccaca	7	11	4	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.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)	Somatic				ADCY8_ENST00000377928.3_Intron	p.S812T	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	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	5	27	---	---	---	---	T	131859738	A	T	131859738	3	4	182	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	107604829	131859738	14504284	11	8076										
TRIM5	85363	broad.mit.edu	37	chr11	5701211	5701211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	catgccgattaggccgtatgTtctcaggctggtaactgatc	11	10	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.chr11:5701211T>G	ENST00000380034.3	-	2	453	c.197A>C	c.(196-198)aAc>aCc	p.N66T	TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000305836.5_Missense_Mutation_p.N66T	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		Somatic				TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T	p.N66T			WXS	Illumina GAIIx	Phase_I	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	4	106	---	---	---	---	G	5701211	T	G	5701211	3	3	182	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	12	8077										
DDX47	51202	broad.mit.edu	37	chr12	12980209	12980226	+	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	AACACTTAATTGGGAAGA	-													0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	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)gaacacttaattgggaagaaa>gaa		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		Somatic				DDX47_ENST00000352940.4_In_Frame_Del_p.HLIGKK331del	p.HLIGKK380del	NM_016355.3	NP_057439.2	WXS	Illumina GAIIx	Phase_I	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	11	1158_1175	+		Prostate(47;0.0526)	380			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	182	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	13	8078										
SDCCAG1	9147	broad.mit.edu	37	chr14	50251653	50251653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	agaactttacctttacgctgCggaataagtctttttctctt	6	9	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.chr14:50251653C>T	ENST00000298310.5	-	32	3592	c.3143G>A	c.(3142-3144)cGc>cAc	p.R1048H	NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H			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		Somatic				NEMF_ENST00000382135.2_Missense_Mutation_p.R248H|NEMF_ENST00000546046.1_Missense_Mutation_p.R1027H|NEMF_ENST00000545773.1_Missense_Mutation_p.R1006H|NEMF_ENST00000556925.1_5'UTR	p.R1048H			WXS	Illumina GAIIx	Phase_I	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	15	65	---	---	---	---	T	50251653	C	T	50251653	3	4	182	1	0	0	0	0	1	0	0	0	13957	768	27	2	95	2	SDCCAG1	14	50251653	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08		50251653	57097887	14	8079										
ZNF592	9640	broad.mit.edu	37	chr15	85327345	85327345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tgccccaggctcacagacagGcaagaagcaacagagcacag	11	13	1	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.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		Somatic				ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V	p.G480V			WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	T	85327345	G	T	85327345	3	4	182	1	0	0	0	0	1	0	0	0	18019	1203	42	3	1441	3	ZNF592	15	85327345	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		85327345	17204047	15	8080										
PRSS27	83886	broad.mit.edu	37	chr16	2770147	2770147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	agcagcaggagcggcaccgcCgccggccgcctcatgtcctc	13	18	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.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			Somatic					p.A5A	NM_031948.3	NP_114154.1	WXS	Illumina GAIIx	Phase_I	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	4	4	---	---	---	---	T	2770147	C	T	2770147	2	4	182	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		2770147	87584606	16	8081										
ASPA	443	broad.mit.edu	37	chr17	3379480	3379480	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	tcttgtcacattgctgaagaAcatatacaaaaggttgctat	7	7	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.chr17:3379480A>G	ENST00000263080.2	+	1	185	c.27A>G	c.(25-27)gaA>gaG	p.E9E	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	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			Somatic				SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	p.E9E	NM_000049.2	NP_000040.1	WXS	Illumina GAIIx	Phase_I	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	21	86	---	---	---	---	G	3379480	A	G	3379480	2	3	182	1	0	0	0	0	0	0	0	1	1050	40	2	2		2	ASPA	17	3379480	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08		3379480	77815730	17	8082										
MYH1	4619	broad.mit.edu	37	chr17	10404784	10404784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gcccgggaggcccgctctgcCtcgatttcctcctccagctc	10	19	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.chr17:10404784C>T	ENST00000226207.5	-	27	3475	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	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	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			Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.E1127E	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	T	10404784	C	T	10404784	2	4	182	1	0	0	0	0	0	0	0	1	10029	680	24	2		2	MYH1	17	10404784	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	7025304	10404784	70790426	18	8083										
GGNBP2	79893	broad.mit.edu	37	chr17	34934521	34934521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gctgcactttatgaaggcttGcggtgctgtccacatgaacg	12	10	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.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			Somatic					p.L250L	NM_024835.3	NP_079111.1	WXS	Illumina GAIIx	Phase_I	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	67	152	---	---	---	---	A	34934521	G	A	34934521	2	1	182	1	0	0	0	0	0	0	0	1	6359	1310	46	2		2	GGNBP2	17	34934521	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08	24529737	34934521	46260689	19	8084										
PRKCSH	5589	broad.mit.edu	37	chr19	11560110	11560110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	ctgtgcgggaaagagaccatGgtgaccagcaccacagagcc	13	12	0	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.chr19:11560110G>A	ENST00000589838.1	+	16	1470	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000252455.2_Missense_Mutation_p.M490I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000587327.1_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		Somatic				PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I	p.M490I	NM_002743.2	NP_002734.2	WXS	Illumina GAIIx	Phase_I	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	5	66	---	---	---	---	A	11560110	G	A	11560110	3	1	182	1	0	0	0	0	1	0	0	0	12516	1348	47	2	1553	2	PRKCSH	19	11560110	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		11560110	47568873	20	8085										
FXYD3	5349	broad.mit.edu	37	chr19	35613746	35613746	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gcatcatcatcgtcatgagtGagtggaggagctcgggggag	17	7	3	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.chr19:35613746G>T	ENST00000344013.6	+	6	368				FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000435734.2_Nonsense_Mutation_p.E59*|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron			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			Somatic				FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000344013.6_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron	p.E59*	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	WXS	Illumina GAIIx	Phase_I	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	4	135	---	---	---	---	T	35613746	G	T	35613746	1	4	182	0	1	0	0	0	0	0	0	0	6119	1291	45	3		3	FXYD3	19	35613746	Intron	SNP	G	TCGA-HC-8256-01A-11D-2260-08	24053636	35613746	23515237	21	8086										
ZNF571	51276	broad.mit.edu	37	chr19	38057181	38057181	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	ataactttttggtcacacaaCtggattccaagtctgtagaa	7	8	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.chr19:38057181C>G	ENST00000328550.2	-	4	248	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000586139.1_RNA			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		Somatic				ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA	p.S50T			WXS	Illumina GAIIx	Phase_I	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	8	38	---	---	---	---	G	38057181	C	G	38057181	3	3	182	1	0	0	0	0	1	0	0	0	18000	565	20	4	1684	4	ZNF571	19	38057181	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	2443435	38057181	21071802	22	8087										
PAK7	57144	broad.mit.edu	37	chr20	9546933	9546933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	ctgcttgaggaatagcccgaTttgctttgactttgaggtag	12	7	0	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.chr20:9546933T>C	ENST00000378429.3	-	6	1635	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	PAK7_ENST00000353224.5_Silent_p.K363K|PAK7_ENST00000378423.1_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			Somatic				PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	p.K363K	NM_020341.3	NP_065074.1	WXS	Illumina GAIIx	Phase_I	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	3	142	---	---	---	---	C	9546933	T	C	9546933	2	2	182	1	0	0	0	0	0	0	0	1	11405	1490	52	2		2	PAK7	20	9546933	Silent	SNP	T	TCGA-HC-8256-01A-11D-2260-08		9546933	53478587	23	8088										
CSRP2BP	57325	broad.mit.edu	37	chr20	18142699	18142699	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	ccagatgtgattctggaaaaAggcgaagtgattgacttttc	11	6	1	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																																						ENST00000435364.3																			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			Somatic				CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.3_Silent_p.K305K	p.K306K	NM_020536.4	NP_065397	WXS	Illumina GAIIx	Phase_I	Q9H8E8	CSR2B_HUMAN			5	1259	+								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	3	102	---	---	---	---	G	18142699	A	G	18142699	2	3	182	1	0	0	0	0	0	0	0	1	3968	69	3	2		2	CSRP2BP	20	18142699	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08	8595766	18142699	44882821	24	8089										
KIAA0406	9675	broad.mit.edu	37	chr20	36639973	36639973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	aggaagcagctctcttatcgTaaaattggtccagggtggcc	12	9	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.chr20:36639973T>C	ENST00000373448.2	-	3	2484	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C|TTI1_ENST00000487362.1_5'Flank	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		Somatic				TTI1_ENST00000449821.1_Missense_Mutation_p.Y749C|TTI1_ENST00000373447.3_Missense_Mutation_p.Y749C	p.Y749C	NM_014657.1	NP_055472.1	WXS	Illumina GAIIx	Phase_I	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	2	18	---	---	---	---	C	36639973	T	C	36639973	3	2	182	1	0	0	0	0	1	0	0	0	8173	1638	57	2	1051	2	KIAA0406	20	36639973	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08	18497274	36639973	26385547	25	8090										
TMPRSS6	164656	broad.mit.edu	37	chr22	37499387	37499387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	aggccttgaacatcccctccGgctccgcttcctcgccatca	7	19	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.chr22:37499387G>A	ENST00000346753.3	-	2	214	c.98C>T	c.(97-99)cCg>cTg	p.P33L	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000381792.2_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		Somatic				TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L	p.P24L			WXS	Illumina GAIIx	Phase_I	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	3	113	---	---	---	---	A	37499387	G	A	37499387	3	1	182	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	26	8091										
POLA1	5422	broad.mit.edu	37	chrX	24861702	24861702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	gcttgtatcgttgcagtaacAtcgattgtaaggcttcacct	9	9	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.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		Somatic				POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V	p.I1319V			WXS	Illumina GAIIx	Phase_I	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	13	16	---	---	---	---	G	24861702	A	G	24861702	3	3	182	1	0	0	0	0	1	0	0	0	12187	217	8	2	4071	2	POLA1	23	24861702	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		24861702	130408858	27	8092										
SMARCA1	6594	broad.mit.edu	37	chrX	128638774	128638774	+	Frame_Shift_Del	DEL	A	A	-													0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	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)tttfs		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		Somatic				SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs	p.F368fs	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	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	182	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	28	8093										
SLITRK2	84631	broad.mit.edu	37	chrX	144906446	144906446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.643268124280783	0	0.786216596343179	1	1	0	cagaaccggactacctcgaaGttctggaaaaacaaactgca	8	11	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.chrX:144906446G>T	ENST00000370490.1	+	1	6758	c.2503G>T	c.(2503-2505)Gtt>Ttt	p.V835F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_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		Somatic				SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F	p.V835F			WXS	Illumina GAIIx	Phase_I	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	21	14	---	---	---	---	T	144906446	G	T	144906446	3	4	182	1	0	0	0	0	1	0	0	0	14743	1029	36	3	2505	3	SLITRK2	23	144906446	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	16267672	144906446	10364114	29	8094										
EXTL1	2134	broad.mit.edu	37	chr1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gtggggctcctggccagctgCggcaacacagcccccagccc	13	18	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.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		Somatic				EXTL1_ENST00000484339.1_3'UTR	p.R216W	NM_004455.2	NP_004446.2	WXS	Illumina GAIIx	Phase_I	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	4	20	---	---	---	---	T	26349783	C	T	26349783	3	4	183	1	0	0	0	0	1	0	0	0	5325	759	27	2	648	2	EXTL1	1	26349783	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		26349783	222900838	1	8095										
IFI16	3428	broad.mit.edu	37	chr1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tatatggggtatttatgctaCataaggtaagtcctcaaaat	8	5	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.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y			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		Somatic				IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y	p.H323Y			WXS	Illumina GAIIx	Phase_I	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	16	15	---	---	---	---	T	158988436	C	T	158988436	3	4	183	1	0	0	0	0	1	0	0	0	7511	478	17	2	981	2	IFI16	1	158988436	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	132638653	158988436	90262185	2	8096										
PTPRC	5788	broad.mit.edu	37	chr1	198719701	198719701	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gacttttggcagatgatcttCcaaagaaaagtcaaagttat	8	6	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.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000594404.1_Silent_p.F888F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000442510.2_Silent_p.F1051F|PTPRC_ENST00000348564.6_Silent_p.F890F	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			Somatic				PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F|PTPRC_ENST00000594404.1_Silent_p.F888F	p.F1049F	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	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	13	83	---	---	---	---	T	198719701	C	T	198719701	2	4	183	1	0	0	0	0	0	0	0	1	12797	854	30	2		2	PTPRC	1	198719701	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	39731265	198719701	50530920	3	8097										
OR2T2	401992	broad.mit.edu	37	chr1	248616338	248616338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tacatctgtatcactgtcccCaagatgctccaggacctcct	6	15	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.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			Somatic					p.P80P	NM_001004136.1	NP_001004136.1	WXS	Illumina GAIIx	Phase_I	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	6	174	---	---	---	---	T	248616338	C	T	248616338	2	4	183	1	0	0	0	0	0	0	0	1	11020	581	21	2		2	OR2T2	1	248616338	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	49896637	248616338	634283	4	8098										
SH3BP5L	80851	broad.mit.edu	37	chr1	249118997	249118997	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tcctctcttggggacaatttGgcctcactgctgctgcttcc	9	14	2	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.chr1:249118997G>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			Somatic				SH3BP5L_ENST00000475978.1_5'UTR	p.A46A	NM_030645.1	NP_085148.1	WXS	Illumina GAIIx	Phase_I	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	64	131	---	---	---	---	T	249118997	G	T	249118997	2	4	183	1	0	0	0	0	0	0	0	1	14248	1335	47	1		1	SH3BP5L	1	249118997	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	502659	249118997	131624	5	8099										
LTBP1	4052	broad.mit.edu	37	chr2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gtgacagtcacgggttttgtGacaatacagctggctccttc	11	10	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.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_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		Somatic				LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N	p.D1261N			WXS	Illumina GAIIx	Phase_I	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	5	75	---	---	---	---	A	33567955	G	A	33567955	3	1	183	1	0	0	0	0	1	0	0	0	9073	1290	45	2	3934	2	LTBP1	2	33567955	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		33567955	209631418	6	8100										
NCKAP5	344148	broad.mit.edu	37	chr2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	acctgaggaagctggtttggGgaggcggctctgaagaggcc	18	8	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.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S|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		Somatic				NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	p.P1809S	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	A	133489328	G	A	133489328	3	1	183	1	0	0	0	0	1	0	0	0	10223	1232	43	2	320	2	NCKAP5	2	133489328	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	99921373	133489328	109710045	7	8101										
NRP2	8828	broad.mit.edu	37	chr2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	ctctttcagacccaccgtgcGgaggtcgtttgaattccaaa	9	12	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.chr2:206562279G>A	ENST00000357785.5	+	2	116	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_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_ENST00000360409.3_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		Somatic				NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R	p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	WXS	Illumina GAIIx	Phase_I	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	143	316	---	---	---	---	A	206562279	G	A	206562279	3	1	183	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	73072951	206562279	36637094	8	8102										
ZNF385D	79750	broad.mit.edu	37	chr3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	agaggaaccccgaatgtatgGtttattacagctttctgaat	9	7	1	2	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_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	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		Somatic				ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	p.N65K	NM_024697.2	NP_078973.1	WXS	Illumina GAIIx	Phase_I	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	26	65	---	---	---	---	T	21606147	G	T	21606147	3	4	183	1	0	0	0	0	1	0	0	0	17875	1252	44	3	1016	3	ZNF385D	3	21606147	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		21606147	176416283	9	8103										
CCDC66	285331	broad.mit.edu	37	chr3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	caccaatgcagaatcacattGtggatcattaatggagaggg	11	7	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.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y|CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	37	---	---	---	---	A	56651182	G	A	56651182	3	1	183	1	0	0	0	0	1	0	0	0	2838	1377	48	2	1940	2	CCDC66	3	56651182	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	35045035	56651182	141371248	10	8104										
C4orf19	55286	broad.mit.edu	37	chr4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tcaacccttcctggaaggagGgggcaccaggaaacaggact	13	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.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|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	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		Somatic				C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|C4orf19_ENST00000508175.1_Intron	p.G140V	NM_018302.2	NP_060772.2	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	T	37592096	G	T	37592096	3	4	183	1	0	0	0	0	1	0	0	0	2253	1232	43	1	425	1	C4orf19	4	37592096	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		37592096	153562180	11	8105										
FAM13A	10144	broad.mit.edu	37	chr4	89671667	89671667	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	taagcgtagaaccgaggagaGagcatggggtcgctgtcttc	15	8	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.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000513837.1_Silent_p.L262L	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			Somatic				FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000395002.2_Silent_p.L290L	p.L616L	NM_014883.3	NP_055698.2	WXS	Illumina GAIIx	Phase_I	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	31	51	---	---	---	---	C	89671667	G	C	89671667	2	2	183	1	0	0	0	0	0	0	0	1	5452	929	33	4		4	FAM13A	4	89671667	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	52079571	89671667	101482609	12	8106										
CMYA5	202333	broad.mit.edu	37	chr5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	attccaaaataacaactacaCctatagtgcttcattcagct	3	11	2	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.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		Somatic					p.P1313S	NM_153610.3	NP_705838.3	WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	T	79028525	C	T	79028525	3	4	183	1	0	0	0	0	1	0	0	0	3590	507	18	2	3943	2	CMYA5	5	79028525	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		79028525	101886735	13	8107										
VCAN	1462	broad.mit.edu	37	chr5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	acaaatactttgcccatcgaCgcacatgggatgcagctgaa	9	11	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.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000513899.1_RNA	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		Somatic				VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	p.R3188C	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	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	31	174	---	---	---	---	T	82849251	C	T	82849251	3	4	183	1	0	0	0	0	1	0	0	0	17135	536	19	2	9600	2	VCAN	5	82849251	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3820726	82849251	98066009	14	8108										
ST8SIA4	7903	broad.mit.edu	37	chr5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	agaggaattgattttccaacCttctacattgtgctggaaga	9	7	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.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		Somatic				ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	p.G70R	NM_005668.4	NP_005659.1	WXS	Illumina GAIIx	Phase_I	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	17	42	---	---	---	---	G	100231395	C	G	100231395	3	3	183	1	0	0	0	0	1	0	0	0	15233	681	24	4	891	4	ST8SIA4	5	100231395	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	17382144	100231395	80683865	15	8109										
MTBP	27085	broad.mit.edu	37	chr8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	ggactcaatcacattgttggAtgctaaagaattgctgaagt	10	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.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		Somatic					p.D602V	NM_022045.4	NP_071328.2	WXS	Illumina GAIIx	Phase_I	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	18	56	---	---	---	---	T	121519023	A	T	121519023	3	4	183	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	16	8110										
TG	7038	broad.mit.edu	37	chr8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	aagaggccacccacatctacCggaagccaggtaagcccaag	10	14	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.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_ENST00000377869.1_Missense_Mutation_p.R2128W|TG_ENST00000519543.1_Missense_Mutation_p.R318W	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		Somatic				TG_ENST00000377869.1_Missense_Mutation_p.R2128W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W	p.R2185W	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	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	6	22	---	---	---	---	T	134026000	C	T	134026000	3	4	183	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	17	8111										
C9orf84	158401	broad.mit.edu	37	chr9	114468873	114468873	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	aaaactgtgtctggaagaatCactttaaaggccatgtaagg	10	6	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.chr9:114468873C>A	ENST00000318737.4	-	18	2648	c.2520G>T	c.(2518-2520)gtG>gtT	p.V840V	C9orf84_ENST00000394779.3_Silent_p.V801V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V	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			Somatic				C9orf84_ENST00000318737.4_Silent_p.V840V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V	p.V801V	NM_001080551.1	NP_001074020.1	WXS	Illumina GAIIx	Phase_I	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	39	71	---	---	---	---	A	114468873	C	A	114468873	2	1	183	1	0	0	0	0	0	0	0	1	2500	813	29	3		3	C9orf84	9	114468873	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08		114468873	26744558	18	8112										
GAD2	2572	broad.mit.edu	37	chr10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	agaagttcacgggcggcatcGgaaacaaactgtgcggtgag	15	8	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.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000376248.1_5'Flank|GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	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		Somatic				GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	p.G41R	NM_001134366.1	NP_001127838.1	WXS	Illumina GAIIx	Phase_I	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	3	27	---	---	---	---	A	26506583	G	A	26506583	3	1	183	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	19	8113										
ARAP1	116985	broad.mit.edu	37	chr11	72420926	72420926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gagggtcacctgaagatgcgGtagggcgtggtgaggtcgaa	19	6	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.chr11:72420926G>A	ENST00000393609.3	-	11	1714	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000359373.5_Silent_p.Y504Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000455638.2_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			Somatic				ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y	p.Y504Y			WXS	Illumina GAIIx	Phase_I	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	4	174	---	---	---	---	A	72420926	G	A	72420926	2	1	183	1	0	0	0	0	0	0	0	1	838	1256	44	2		2	ARAP1	11	72420926	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		72420926	62585590	20	8114										
MTERFD3	80298	broad.mit.edu	37	chr12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gcattctctcttctaaaactGgaacagaataatataaaagg	6	7	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.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L			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		Somatic				C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L	p.P297L			WXS	Illumina GAIIx	Phase_I	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	23	49	---	---	---	---	A	107371603	G	A	107371603	3	1	183	1	0	0	0	0	1	0	0	0	9921	1348	47	2	271	2	MTERFD3	12	107371603	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		107371603	26480292	21	8115										
KIAA0564	23078	broad.mit.edu	37	chr13	42259307	42259307	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	cttttcttctttcctctataGaatgatgtatcagtgccact	5	10	4	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.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			Somatic					p.F1401F	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					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	7	28	---	---	---	---	A	42259307	G	A	42259307	2	1	183	1	0	0	0	0	0	0	0	1	8185	933	33	2		2	KIAA0564	13	42259307	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		42259307	72910571	22	8116										
KCNRG	283518	broad.mit.edu	37	chr13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	ctttcatttggtcagcactaGaacagtatcttctgaagaca	7	9	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.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_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	283518					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		Somatic				TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	p.R229I	NM_173605.1	NP_775876.1	WXS	Illumina GAIIx	Phase_I	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	11	23	---	---	---	---	T	50594457	G	T	50594457	3	4	183	1	0	0	0	0	1	0	0	0	8087	942	33	3	794	3	KCNRG	13	50594457	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	8335150	50594457	64575421	23	8117										
FLRT2	23768	broad.mit.edu	37	chr14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	catcctggagatgacagaaaCcagttttcagatcgtctcct	8	11	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.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		Somatic				FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	p.T605N	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	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	4	160	---	---	---	---	A	86089672	C	A	86089672	3	1	183	1	0	0	0	0	1	0	0	0	5939	507	18	3	1816	3	FLRT2	14	86089672	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		86089672	21259868	24	8118										
CCNF	899	broad.mit.edu	37	chr16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	cagtgatgaggaggcttgtcCagaggacaagggaccccagg	16	9	0	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.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		Somatic				RP11-715J22.4_ENST00000566085.1_lincRNA	p.P660L	NM_001761.2	NP_001752.2	WXS	Illumina GAIIx	Phase_I	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	5	38	---	---	---	---	T	2506639	C	T	2506639	3	4	183	1	0	0	0	0	1	0	0	0	2922	594	21	2	2045	2	CCNF	16	2506639	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		2506639	87848114	25	8119										
C16orf70	80262	broad.mit.edu	37	chr16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tcattcttaacctgactcagGacgggatcaaactaatgttt	7	9	4	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.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y|C16orf70_ENST00000569683.1_3'UTR	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		Somatic				C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y	p.D63Y	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	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	32	81	---	---	---	---	T	67159901	G	T	67159901	3	4	183	1	0	0	0	0	1	0	0	0	1829	1174	41	3	197	3	C16orf70	16	67159901	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	64653262	67159901	23194852	26	8120										
SNAI3	333929	broad.mit.edu	37	chr16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tcttgcaggtgcagggcagcGtgtgagtgcggatgtgcatc	17	8	1	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		Somatic				SNAI3-AS1_ENST00000563261.1_RNA	p.T206M	NM_178310.3	NP_840101.1	WXS	Illumina GAIIx	Phase_I	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	16	168	---	---	---	---	A	88747582	G	A	88747582	3	1	183	1	0	0	0	0	1	0	0	0	14828	1145	40	2	269	2	SNAI3	16	88747582	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	21587681	88747582	1607171	27	8121										
TMEM102	284114	broad.mit.edu	37	chr17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	cggtccgctggcctctgagtCggcttccttctacctggtgc	12	15	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.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.8_ENST00000576615.1_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		Somatic				TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	p.S344L	NM_178518.2	NP_848613.1	WXS	Illumina GAIIx	Phase_I	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	6	6	---	---	---	---	T	7340329	C	T	7340329	3	4	183	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		7340329	73854881	28	8122										
STAC2	342667	broad.mit.edu	37	chr17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	aaacattctcgcctggcctcAcccgttgcacaaaattagct	6	14	2	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.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		Somatic					p.V349E	NM_198993.3	NP_945344.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	T	37369333	A	T	37369333	3	4	183	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	29	8123										
EPX	8288	broad.mit.edu	37	chr17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gctgcggctccgcaaccggaCcaactacctggggctgctgg	14	15	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.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		Somatic					p.T329I	NM_000502.4	NP_000493.1	WXS	Illumina GAIIx	Phase_I	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	51	87	---	---	---	---	T	56274484	C	T	56274484	3	4	183	1	0	0	0	0	1	0	0	0	5200	507	18	2	1012	2	EPX	17	56274484	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	18905151	56274484	24920726	30	8124										
ZNF407	55628	broad.mit.edu	37	chr18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	ctacatatgcatatcaaacaAgcacatgggccacagaaggt	8	10	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.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	31	76	---	---	---	---	T	72343683	A	T	72343683	3	4	183	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	31	8125										
AKAP8	10270	broad.mit.edu	37	chr19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	gcggttgtgattgtggtccaCggagtgcaggtgccgctgga	18	8	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.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		Somatic					p.V502M	NM_005858.3	NP_005849.1	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	T	15471682	C	T	15471682	3	4	183	1	0	0	0	0	1	0	0	0	457	536	19	2	586	2	AKAP8	19	15471682	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		15471682	43657301	32	8126										
TRPM4	54795	broad.mit.edu	37	chr19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-													0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	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_ENST00000427978.2_Frame_Shift_Del_p.A972fs|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs	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)gccfs		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		Somatic				TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs	p.A1117fs	NM_017636.3	NP_060106.2	WXS	Illumina GAIIx	Phase_I	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	183	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	34242306	49713988	9414995	33	8127										
MLC1	23209	broad.mit.edu	37	chr22	50512646	50512646	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	ggccagaggggttactcacgGccactaggatccaaaagaac	12	11	1	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_ENST00000483836.1_5'Flank|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000535444.1_Splice_Site_p.A159V|MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000450140.2_Splice_Site_p.A186V	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.(712-714)gCc>gTc		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			Somatic				MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000450140.2_Splice_Site_p.A186V|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000535444.1_Splice_Site_p.A159V	p.A238V	NM_015166.3	NP_055981.1	WXS	Illumina GAIIx	Phase_I	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.713C>T	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	12	16	---	---	---	---	A	50512646	G	A	50512646	5	1	183	1	0	0	0	0	0	0	1	0	9612	1217	42	2	440	2	MLC1	22	50512646	Splice_Site	SNP	G	TCGA-HC-8257-01A-11D-2260-08		50512646	791920	34	8128										
USP9X	8239	broad.mit.edu	37	chrX	40999970	40999970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	0.876319121992402	3.35922330097087	0.639852057327785	1	1	0	tgggttccagattttgcatgAtcgttttattaatggatcag	10	5	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.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)	ENST00000324545.8																			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		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			7	1349	+								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	5	31	---	---	---	---	G	40999970	A	G	40999970	3	3	183	1	0	0	0	0	1	0	0	0	17087	333	12	2	738	2	USP9X	23	40999970	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		40999970	114270590	35	8129										
ZNF642	339559	broad.mit.edu	37	chr1	40960881	40960881	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	tattgaacagaggcaccataAatatgatacacctacaaagc	6	9	0	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.chr1:40960881A>C	ENST00000372706.1	+	6	1737	c.731A>C	c.(730-732)aAa>aCa	p.K244T	ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T|RP11-656D10.3_ENST00000450713.1_RNA			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		Somatic				RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T	p.K244T			WXS	Illumina GAIIx	Phase_I					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	3	20	---	---	---	---	C	40960881	A	C	40960881	3	2	184	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	8130										
FLG	2312	broad.mit.edu	37	chr1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	ttgggacgctgaatgcctggAgctgtctcgtgcctgctcgt	14	11	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_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_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		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S504P	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	28	648	---	---	---	---	G	152285852	A	G	152285852	3	3	184	1	0	0	0	0	1	0	0	0	5922	304	11	2	10679	2	FLG	1	152285852	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	111324971	152285852	96964769	2	8131										
KIAA2018	205717	broad.mit.edu	37	chr3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	ggaacattttgcactgaattAttagaccctattacagtatt	6	7	0	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.chr3:113378681A>T	ENST00000478658.1	-	5	1865	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000316407.4_Missense_Mutation_p.N616K|KIAA2018_ENST00000491165.1_Intron			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		Somatic				KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K	p.N616K	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	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	5	35	---	---	---	---	T	113378681	A	T	113378681	3	4	184	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	3	8132										
ADRA2C	152	broad.mit.edu	37	chr4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	ctgcaacagctcgctcaaccCggtcatctacacggtcttca	7	16	5	0			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		Somatic				ADRA2C_ENST00000509482.1_Intron	p.P434R	NM_000683.3	NP_000674.2	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	G	3769634	C	G	3769634	3	3	184	1	0	0	0	0	1	0	0	0	339	652	23	4	1303	4	ADRA2C	4	3769634	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		3769634	187384642	4	8133										
SMARCA5	8467	broad.mit.edu	37	chr4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	cagatttgactggtttcttaAgtccagaactgcaatggtga	10	7	1	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.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		Somatic					p.K990R	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	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	2	15	---	---	---	---	G	144469277	A	G	144469277	3	3	184	1	0	0	0	0	1	0	0	0	14771	72	3	2	3055	2	SMARCA5	4	144469277	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	140699643	144469277	46684999	5	8134										
ATF6B	1388	broad.mit.edu	37	chr6	32083517	32083517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	tcagtgtgaatggcagaggtCagggatgattgaggtagagg	18	3	2	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.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			Somatic				ATF6B_ENST00000375203.3_Silent_p.*704*	p.*701*			WXS	Illumina GAIIx	Phase_I	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	5	161	---	---	---	---	T	32083517	C	T	32083517	2	4	184	1	0	0	0	0	0	0	0	1	1085	837	29	2		2	ATF6B	6	32083517	Silent	SNP	C	TCGA-HC-8258-01A-11D-2260-08		32083517	139031550	6	8135										
PKHD1L1	93035	broad.mit.edu	37	chr8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	ctacagaggaaataattggcCaggcgagtcaaaaattcata	9	7	2	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.chr8:110437366C>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)	Somatic					p.P917Q	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	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	2	6	---	---	---	---	A	110437366	C	A	110437366	3	1	184	1	0	0	0	0	1	0	0	0	11972	594	21	1	2844	1	PKHD1L1	8	110437366	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		110437366	35926656	7	8136										
OR4C6	219432	broad.mit.edu	37	chr11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	ccaagagcactaccatctctCtcaaaggctgcctcacccag	6	17	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		Somatic					p.L92V	NM_001004704.1	NP_001004704.1	WXS	Illumina GAIIx	Phase_I	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	6	52	---	---	---	---	G	55432916	C	G	55432916	3	3	184	1	0	0	0	0	1	0	0	0	11052	913	32	4	276	4	OR4C6	11	55432916	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		55432916	79573600	8	8137										
CADM1	23705	broad.mit.edu	37	chr11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	attgaaacaaaaaggctgatCtagatgaagtactctttctt	7	6	3	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.chr11:115047194C>A	ENST00000452722.3	-	10	1349	c.1329G>T	c.(1327-1329)taG>taT	p.*443Y	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y	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																																						ENST00000452722.3																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1327-1329)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			Somatic				CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	p.*443Y	NM_014333.3	NP_055148.3	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	10	1349	-	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)							Nonstop_Mutation	SNP	ENST00000452722.3	37	c.1329G>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	7	74	---	---	---	---	A	115047194	C	A	115047194	4	1	184	1	0	0	0	0	0	0	0	0	2566	924	32	3	3	3	CADM1	11	115047194	Nonstop_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	59614278	115047194	19959322	9	8138										
TRPV2	51393	broad.mit.edu	37	chr17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	gtacaggggtatcctggaagCctccttggagctcttcaaat	11	10	2	0			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		Somatic				TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR	p.A596D	NM_016113.4	NP_057197.2	WXS	Illumina GAIIx	Phase_I	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	7	123	---	---	---	---	A	16335412	C	A	16335412	3	1	184	1	0	0	0	0	1	0	0	0	16593	739	26	3	1829	3	TRPV2	17	16335412	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		16335412	64859798	10	8139										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.181818181818182	2	0.968713181754189	3.03703703703704	2.27777777777778	4.55555555555556	1	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	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.chr17:47696426A>G	ENST00000393328.2	-	6	762	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_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.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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	79	---	---	---	---	G	47696426	A	G	47696426	3	3	184	1	0	0	0	0	1	0	0	0	15083	101	4	2	751	2	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	31361014	47696426	33498784	11	8140										
GCG	2641	broad.mit.edu	37	chr2	163005635	163005635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttgaagggaacgttgccaGctgccttgtaccagcattac	10	11	1	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.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			Somatic				GCG_ENST00000375497.3_Silent_p.S18S	p.S18S	NM_002054.4	NP_002045.1	WXS	Illumina GAIIx	Phase_I	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	10	77	---	---	---	---	A	163005635	G	A	163005635	2	1	185	1	0	0	0	0	0	0	0	1	6290	962	34	2		2	GCG	2	163005635	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		163005635	80193738	1	8141										
FAM75A6	389730	broad.mit.edu	37	chr9	43627235	43627235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccataggtgtgggcaggaaTtggggtgtggatgaaataaa	17	3	0	1	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		Somatic					p.Q484H	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					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	30	142	---	---	---	---	A	43627235	T	A	43627235	3	1	185	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	2	8142										
FAM171A1	221061	broad.mit.edu	37	chr10	15255016	15255016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatcgtcttcctcttcctcGtgggcagatcttctctggtg	9	13	5	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.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			Somatic					p.H857H	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	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	6	68	---	---	---	---	A	15255016	G	A	15255016	2	1	185	1	0	0	0	0	0	0	0	1	5490	1136	40	2		2	FAM171A1	10	15255016	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		15255016	120279731	3	8143										
TET1	80312	broad.mit.edu	37	chr10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccaatgcaagacacccaaGtccttcctgatatagagact	6	12	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.chr10:70332588G>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		Somatic					p.V165L	NM_030625.2	NP_085128.2	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	C	70332588	G	C	70332588	3	2	185	1	0	0	0	0	1	0	0	0	15766	1029	36	4	495	4	TET1	10	70332588	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08	55077572	70332588	65202159	4	8144										
BAHD1	22893	broad.mit.edu	37	chr15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctcgccgccgccgtcgccGccgcactaatggctgggtac	12	19	0	0	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	BAHD1_ENST00000561234.1_Missense_Mutation_p.R585H|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H	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		Somatic				BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H	p.R585H			WXS	Illumina GAIIx	Phase_I	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	4	95	---	---	---	---	A	40754435	G	A	40754435	3	1	185	1	0	0	0	0	1	0	0	0	1297	1087	38	2	1763	2	BAHD1	15	40754435	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		40754435	61776957	5	8145										
PLCG2	5336	broad.mit.edu	37	chr16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttgagtggtttcagagcAtccgagagatcacctggaag	12	8	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.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		Somatic					p.I903V	NM_002661.3	NP_002652.2	WXS	Illumina GAIIx	Phase_I	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	5	61	---	---	---	---	G	81965227	A	G	81965227	3	3	185	1	0	0	0	0	1	0	0	0	12036	217	8	2	2801	2	PLCG2	16	81965227	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08		81965227	8389526	6	8146										
ZCCHC14	23174	broad.mit.edu	37	chr16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggctgtgtacagagcagtcCgggggtttattattgcaggg	16	6	0	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.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		Somatic					p.R673L	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	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	9	73	---	---	---	---	A	87445898	C	A	87445898	3	1	185	1	0	0	0	0	1	0	0	0	17580	652	23	1	839	1	ZCCHC14	16	87445898	Missense_Mutation	SNP	C	TCGA-HC-8260-01A-11D-2260-08	5480671	87445898	2908855	7	8147										
TSR1	55720	broad.mit.edu	37	chr17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctccataaaatcctcatgtTccatatcatcatattcatat	1	12	4	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.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																																						ENST00000301364.5																			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		Somatic					p.E425G	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			7	2353	-						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	5	28	---	---	---	---	C	2236286	T	C	2236286	3	2	185	1	0	0	0	0	1	0	0	0	16661	1783	62	2	1176	2	TSR1	17	2236286	Missense_Mutation	SNP	T	TCGA-HC-8260-01A-11D-2260-08		2236286	78958924	8	8148										
ATG4D	84971	broad.mit.edu	37	chr19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggaccacagcctggacgAcctctgctcccagctcgccc	9	19	2	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	RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	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		Somatic				ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	p.D442G	NM_032885.4	NP_116274.3	WXS	Illumina GAIIx	Phase_I	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	3	61	---	---	---	---	G	10663643	A	G	10663643	3	3	185	1	0	0	0	0	1	0	0	0	1099	275	10	2	1363	2	ATG4D	19	10663643	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08		10663643	48465340	9	8149										
PADI4	23569	broad.mit.edu	37	chr1	17690079	17690079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	cccttcgggcccgtcatcaaCggccgctgctgcctggagga	13	16	2	0	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			Somatic					p.N607N	NM_012387.2	NP_036519.2	WXS	Illumina GAIIx	Phase_I	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	16	20	---	---	---	---	T	17690079	C	T	17690079	2	4	186	1	0	0	0	0	0	0	0	1	11380	535	19	2		2	PADI4	1	17690079	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		17690079	231560542	1	8150										
HTR1D	3352	broad.mit.edu	37	chr1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	tgggcattaccaagatggaaAccaagaggtcggtggtggcc	15	8	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.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		Somatic				HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	p.V87A	NM_000864.4	NP_000855.1	WXS	Illumina GAIIx	Phase_I	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	45	145	---	---	---	---	G	23520453	A	G	23520453	3	3	186	1	0	0	0	0	1	0	0	0	7438	43	2	2	877	2	HTR1D	1	23520453	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	5830374	23520453	225730168	2	8151										
NCK2	8440	broad.mit.edu	37	chr2	106497794	106497794	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	gtctccacaggcctcggcaaGacgcgcaggaagaccagcgc	13	15	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.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			Somatic				NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron	p.K79K	NM_003581.4	NP_003572.2	WXS	Illumina GAIIx	Phase_I	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	10	28	---	---	---	---	A	106497794	G	A	106497794	2	1	186	1	0	0	0	0	0	0	0	1	10220	933	33	2		2	NCK2	2	106497794	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08		106497794	136701579	3	8152										
MFN1	55669	broad.mit.edu	37	chr3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	aggtgtggcacttgctgaagGatttcatgcaagattacagg	13	6	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.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		Somatic				MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V	p.G309V	NM_033540.2	NP_284941	WXS	Illumina GAIIx	Phase_I	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	3	51	---	---	---	---	T	179085842	G	T	179085842	3	4	186	1	0	0	0	0	1	0	0	0	9523	1174	41	3	956	3	MFN1	3	179085842	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		179085842	18936588	4	8153										
SHROOM3	57619	broad.mit.edu	37	chr4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	agaaagtcagtcctgatcctCagaagagttcagaagacatc	9	9	3	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.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*		Somatic					p.Q1660*	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	T	77677870	C	T	77677870	4	4	186	1	0	0	0	0	0	1	0	0	14295	827	29	2	5008	2	SHROOM3	4	77677870	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		77677870	113476406	5	8154										
AGXT2L1	64850	broad.mit.edu	37	chr4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ctgaaacttatatgggctaaTctcaattaaggatgataggt	9	5	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.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_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	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		Somatic				ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	p.I149F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	WXS	Illumina GAIIx	Phase_I					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	19	40	---	---	---	---	A	109675832	T	A	109675832	3	1	186	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	6	8155										
HLA-G	3135	broad.mit.edu	37	chr6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	accctgtctttgactatgagGccaccctgaggtgctgggcc	12	13	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.chr6:29797242G>A	ENST00000360323.6	+	4	691	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T|HLA-G_ENST00000428701.1_Missense_Mutation_p.A223T			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		Somatic				HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T	p.A223T	NM_002127.5	NP_002118.1	WXS	Illumina GAIIx	Phase_I	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	9	192	---	---	---	---	A	29797242	G	A	29797242	3	1	186	1	0	0	0	0	1	0	0	0	7212	1203	42	2	681	2	HLA-G	6	29797242	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		29797242	141317825	7	8156										
CDK19	23097	broad.mit.edu	37	chr6	110944514	110944514	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	aagaggaacactttgctgtcAggcttgaccttgtgtttctc	10	9	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.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	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			Somatic				CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	p.P304P	NM_015076.3	NP_055891.1	WXS	Illumina GAIIx	Phase_I	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	3	123	---	---	---	---	T	110944514	A	T	110944514	2	4	186	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	81147272	110944514	60170553	8	8157										
DHTKD1	55526	broad.mit.edu	37	chr10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	taataaccagctgggttacaCcactccagctgaaagaggaa	9	10	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.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		Somatic				DHTKD1_ENST00000465617.1_Intron	p.T371I	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	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	5	91	---	---	---	---	T	12133636	C	T	12133636	3	4	186	1	0	0	0	0	1	0	0	0	4500	507	18	2	1134	2	DHTKD1	10	12133636	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		12133636	123401111	9	8158										
FAM53B	9679	broad.mit.edu	37	chr10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ccttcttgtcgttaaggacaCacggctgggagcggctgcgg	15	11	1	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.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	7	---	---	---	---	G	126370270	C	G	126370270	3	3	186	1	0	0	0	0	1	0	0	0	5580	478	17	4	464	4	FAM53B	10	126370270	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	114236634	126370270	9164477	10	8159										
DCHS1	8642	broad.mit.edu	37	chr11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	cgtcaccagtgttcccggagGcacgcggtctggtacctgtg	14	13	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.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		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P1231A	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	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	18	150	---	---	---	---	C	6652623	G	C	6652623	3	2	186	1	0	0	0	0	1	0	0	0	4287	1203	42	4	6261	4	DCHS1	11	6652623	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		6652623	128353893	11	8160										
OR4D6	219983	broad.mit.edu	37	chr11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	cctttgctttggagcttttcAtgatctctaacaacggactg	8	10	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.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		Somatic					p.M199V	NM_001004708.1	NP_001004708.1	WXS	Illumina GAIIx	Phase_I	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	8	116	---	---	---	---	G	59225028	A	G	59225028	3	3	186	1	0	0	0	0	1	0	0	0	11058	217	8	2	597	2	OR4D6	11	59225028	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	52572405	59225028	75781488	12	8161										
SLC39A5	283375	broad.mit.edu	37	chr12	56628745	56628745	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	tgcatcggcgctccggccccTgcacccccaggggatctact	11	18	1	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.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_ENST00000454355.2_Silent_p.P203P|ANKRD52_ENST00000548241.1_5'Flank	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			Somatic				SLC39A5_ENST00000454355.2_Silent_p.P203P	p.P203P	NM_001135195.1	NP_001128667.1	WXS	Illumina GAIIx	Phase_I	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	46	102	---	---	---	---	A	56628745	T	A	56628745	2	1	186	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	13	8162										
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	12	12	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.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000400024.2_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			Somatic				HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G	p.G338G			WXS	Illumina GAIIx	Phase_I	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	18	171	---	---	---	---	T	121434123	C	T	121434123	2	4	186	1	0	0	0	0	0	0	0	1	7251	755	27	2		2	HNF1A	12	121434123	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	64805378	121434123	12417772	14	8163										
CHD8	57680	broad.mit.edu	37	chr14	21860705	21860705	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	aactccttttcatccatgccTcggcgaagtttggtgaactg	9	11	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.chr14:21860705T>A	ENST00000557364.1	-	34	6995	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Silent_p.R2244R|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.R1965R			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			Somatic				CHD8_ENST00000557364.1_Silent_p.R2244R|CHD8_ENST00000430710.3_Silent_p.R1965R	p.R2244R	NM_001170629.1	NP_001164100.1	WXS	Illumina GAIIx	Phase_I	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	13	194	---	---	---	---	A	21860705	T	A	21860705	2	1	186	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	15	8164										
SRP54	6729	broad.mit.edu	37	chr14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ttgaagagatggcatctggtCttaacaaaagaaaaatgatt	9	4	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.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|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		Somatic				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			WXS	Illumina GAIIx	Phase_I	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	9	30	---	---	---	---	G	35470176	C	G	35470176	3	3	186	1	0	0	0	0	1	0	0	0	15154	913	32	4	215	4	SRP54	14	35470176	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	13609471	35470176	71879364	16	8165										
CHGA	1113	broad.mit.edu	37	chr14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	gccctgggccgcagctgcgaCgaggctggaggccatcctcc	15	16	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*		Somatic				CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	p.R392*	NM_001275.3	NP_001266.1	WXS	Illumina GAIIx	Phase_I	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	6	10	---	---	---	---	T	93399080	C	T	93399080	4	4	186	1	0	0	0	0	0	1	0	0	3338	528	19	2	1200	2	CHGA	14	93399080	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	57928904	93399080	13950460	17	8166										
JAG2	3714	broad.mit.edu	37	chr14	105618060	105618060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ccgttggcacacgggttggaGgtgcaggcgtgctcagctgt	17	10	1	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.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_ENST00000347004.2_Silent_p.T352T|RP11-44N21.4_ENST00000548203.1_RNA	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			Somatic				JAG2_ENST00000347004.2_Silent_p.T352T	p.T352T	NM_002226.4	NP_002217.3	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	A	105618060	G	A	105618060	2	1	186	1	0	0	0	0	0	0	0	1	7935	987	35	2		2	JAG2	14	105618060	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08	12218980	105618060	1731480	18	8167										
USP8	9101	broad.mit.edu	37	chr15	50790907	50790907	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	aagaacaatttgaagaaataTaatttgttttctgtttcagt	6	3	2	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.chr15:50790907T>C	ENST00000396444.3	+	19	3491	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	RP11-562A8.4_ENST00000560380.1_RNA|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000433963.1_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|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			Somatic				USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA	p.Y1051Y			WXS	Illumina GAIIx	Phase_I	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	15	41	---	---	---	---	C	50790907	T	C	50790907	2	2	186	1	0	0	0	0	0	0	0	1	17086	1413	49	2		2	USP8	15	50790907	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		50790907	51740485	19	8168										
CHD9	80205	broad.mit.edu	37	chr16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	tatttttgtttctgtagcctCcatcttccaagaagagcgat	7	9	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.chr16:53243397C>A	ENST00000398510.3	+	2	1543	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000566029.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_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		Somatic				CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T	p.P486T			WXS	Illumina GAIIx	Phase_I	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	5	14	---	---	---	---	A	53243397	C	A	53243397	3	1	186	1	0	0	0	0	1	0	0	0	3332	855	30	3	1462	3	CHD9	16	53243397	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		53243397	37111356	20	8169										
CDH3	1001	broad.mit.edu	37	chr16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ctgaaaatggcaagggtcccTtcccccagagactgaatcag	10	12	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.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000429102.2_Missense_Mutation_p.F124L|CDH3_ENST00000581171.1_Missense_Mutation_p.F69L	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		Somatic				CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	p.F124L	NM_001793.4	NP_001784.2	WXS	Illumina GAIIx	Phase_I	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	34	96	---	---	---	---	C	68712160	T	C	68712160	3	2	186	1	0	0	0	0	1	0	0	0	3111	1609	56	2	384	2	CDH3	16	68712160	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	15468763	68712160	21642593	21	8170										
NCOR1	9611	broad.mit.edu	37	chr17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	ctctagctgctgctgttcacTaactgctgctgacctgcttc	8	14	2	1	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		Somatic				NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G	p.S1861G	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	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	43	97	---	---	---	---	C	15965015	T	C	15965015	3	2	186	1	0	0	0	0	1	0	0	0	10235	1522	53	2	1781	2	NCOR1	17	15965015	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08		15965015	65230195	22	8171										
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	11	3	2	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_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_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	WXS	Illumina GAIIx	Phase_I	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	54	91	---	---	---	---	C	47696424	G	C	47696424	3	2	186	1	0	0	0	0	1	0	0	0	15083	1281	45	4	749	4	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	31731409	47696424	33498786	23	8172										
ARHGEF9	23229	broad.mit.edu	37	chrX	62857909	62857909	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	atctgcctccctgtaggtatCattttttgaagggggttaac	10	8	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.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|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			Somatic				ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374878.1_Intron	p.*517*	NM_015185.2	NP_056000.1	WXS	Illumina GAIIx	Phase_I	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	6	1	---	---	---	---	T	62857909	C	T	62857909	2	4	186	1	0	0	0	0	0	0	0	1	912	837	29	2		2	ARHGEF9	23	62857909	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		62857909	92412651	24	8173										
RGAG4	340526	broad.mit.edu	37	chrX	71351091	71351091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	5	0.853525798085268	2.44505494505495	3.42307692307692	2.05384615384615	1	1	0	acgttaatcaaaagatcatcCgagatacagtcgggctccgc	9	11	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.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Silent_p.S100S	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			Somatic				RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron	p.S100S	NM_001024455.3	NP_001019626.1	WXS	Illumina GAIIx	Phase_I	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	9	5	---	---	---	---	T	71351091	C	T	71351091	2	4	186	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	25	8174										
CASZ1	54897	broad.mit.edu	37	chr1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	cttgatggccccgtccaaggTgctgaagagcgcgccgcatt	13	13	0	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.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P	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		Somatic				RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P	p.T1044P	NM_001079843.2	NP_001073312.1	WXS	Illumina GAIIx	Phase_I	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	4	29	---	---	---	---	G	10709155	T	G	10709155	3	3	187	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		10709155	238541466	1	8175										
PDE4DIP	9659	broad.mit.edu	37	chr1	144930736	144930736	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tccatctgtcatgctagggcCaggcttggctccaggtaggc	13	12	2	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.chr1:144930736C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.G325S|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron			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			Somatic				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron	p.G325S			WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	T	144930736	C	T	144930736	1	4	187	0	1	0	0	0	0	0	0	0	11643	594	21	2		2	PDE4DIP	1	144930736	Intron	SNP	C	TCGA-HC-8262-01A-11D-2260-08	134221581	144930736	104319885	2	8176										
ITLN1	55600	broad.mit.edu	37	chr1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gaaggtctggtagataacacCattctcagtgcggagaaaat	11	7	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.chr1:160851965C>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		Somatic					p.G63S	NM_017625.2	NP_060095.2	WXS	Illumina GAIIx	Phase_I	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	17	40	---	---	---	---	T	160851965	C	T	160851965	3	4	187	1	0	0	0	0	1	0	0	0	7910	594	21	2	774	2	ITLN1	1	160851965	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	15921229	160851965	88398656	3	8177										
MDM4	4194	broad.mit.edu	37	chr1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gaagctgctgatactgaacaAacaagtgaagaagtagggaa	12	5	0	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.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|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		Somatic				MDM4_ENST00000454264.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_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	WXS	Illumina GAIIx	Phase_I	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	15	31	---	---	---	---	C	204513776	A	C	204513776	3	2	187	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	4	8178										
USH2A	7399	broad.mit.edu	37	chr1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	ttgaaatcttgtcagagcaaAcatatttcaaaggattatat	6	5	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.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)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D	p.V3382D			WXS	Illumina GAIIx	Phase_I	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	13	47	---	---	---	---	T	215963438	A	T	215963438	3	4	187	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	5	8179										
RNF144A	9781	broad.mit.edu	37	chr2	7160686	7160686	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	ctccaggacgtggggctgcaGaccccccagccagtgcagtg	14	15	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.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			Somatic				RNF144A_ENST00000467276.1_3'UTR	p.Q128Q	NM_014746.3	NP_055561.2	WXS	Illumina GAIIx	Phase_I	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	14	70	---	---	---	---	A	7160686	G	A	7160686	2	1	187	1	0	0	0	0	0	0	0	1	13445	933	33	2		2	RNF144A	2	7160686	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08		7160686	236038687	6	8180										
ACTR3	10096	broad.mit.edu	37	chr2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	ctgagttctaccaagtatgcCacaccaaaaaggattatgaa	7	9	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.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D|ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	G	114714958	C	G	114714958	3	3	187	1	0	0	0	0	1	0	0	0	212	594	21	4	1229	4	ACTR3	2	114714958	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	107554272	114714958	128484415	7	8181										
ANKRD28	23243	broad.mit.edu	37	chr3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gttttctggaaaacttcctgTtctaaaagcagttctacaca	6	9	3	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.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|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	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	2	13	---	---	---	---	G	15721039	T	G	15721039	3	3	187	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	8	8182										
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	ggcagcaacagtcttacctgGactctggaatccattctggt	10	11	3	0	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_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_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		Somatic				CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y	p.D32Y	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	T	41266097	G	T	41266097	3	4	187	1	0	0	0	0	1	0	0	0	4016	1174	41	3	100	3	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	25545058	41266097	156756333	9	8183										
PARP14	54625	broad.mit.edu	37	chr3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	caagtttatttgtggcatttTatgactaccaagcataccca	6	9	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.chr3:122447397T>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		Somatic					p.Y1787D	NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	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	28	77	---	---	---	---	G	122447397	T	G	122447397	3	3	187	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	81181300	122447397	75575033	10	8184										
PCDH18	54510	broad.mit.edu	37	chr4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tggtatccccagtgtcctcaTcgtttggggagtcctttcca	10	12	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.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|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		Somatic				PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V	p.D993V	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	17	48	---	---	---	---	A	138442613	T	A	138442613	3	1	187	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		138442613	52711663	11	8185										
ANKH	56172	broad.mit.edu	37	chr5	14711384	14711384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tctgtcatggcagagtcttcCccctccgtggccgactcatt	9	15	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.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			Somatic				ANKH_ENST00000535119.1_Silent_p.G269G	p.G467G	NM_054027.4	NP_473368.1	WXS	Illumina GAIIx	Phase_I	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	44	133	---	---	---	---	T	14711384	C	T	14711384	2	4	187	1	0	0	0	0	0	0	0	1	627	610	22	2		2	ANKH	5	14711384	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		14711384	166203876	12	8186										
BEND3	57673	broad.mit.edu	37	chr6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	cgtagcagtcatcacgcgggGggtcgccttcactgcccgcg	14	15	3	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.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		Somatic				BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	p.P493L	NM_001080450.2	NP_001073919.1	WXS	Illumina GAIIx	Phase_I	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	12	18	---	---	---	---	A	107390917	G	A	107390917	3	1	187	1	0	0	0	0	1	0	0	0	1399	1232	43	2	1012	2	BEND3	6	107390917	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		107390917	63724150	13	8187										
MTUS1	57509	broad.mit.edu	37	chr8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	agttgtaacatgcacagcctGgctagtaatgagtttattaa	9	6	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.chr8:17611561G>A	ENST00000262102.6	-	2	1980	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381869.3_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*		Somatic				MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	p.Q586*	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	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	8	118	---	---	---	---	A	17611561	G	A	17611561	4	1	187	1	0	0	0	0	0	1	0	0	9965	1357	47	2	2431	2	MTUS1	8	17611561	Nonsense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		17611561	128752461	14	8188										
ZNF782	158431	broad.mit.edu	37	chr9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	atgttttcttaggcgtgactTctcactgaaggctttcccgc	9	11	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.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*|ZNF782_ENST00000466833.1_5'Flank	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*		Somatic				ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	p.K406*	NM_001001662.1	NP_001001662.1	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	A	99581089	T	A	99581089	4	1	187	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	15	8189										
STXBP1	6812	broad.mit.edu	37	chr9	130438178	130438178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gatgccaatgtcagcacttaTgacaaaatccgcatcatcct	6	12	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.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			Somatic				STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR	p.Y402Y	NM_003165.3	NP_003156.1	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	C	130438178	T	C	130438178	2	2	187	1	0	0	0	0	0	0	0	1	15351	1471	51	2		2	STXBP1	9	130438178	Silent	SNP	T	TCGA-HC-8262-01A-11D-2260-08	30857089	130438178	10775253	16	8190										
ANAPC2	29882	broad.mit.edu	37	chr9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gctccacgtccatggtcaccAggcccagggtgtgcttccaa	11	15	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.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		Somatic				ANAPC2_ENST00000487917.1_5'UTR	p.L643P	NM_013366.3	NP_037498.1	WXS	Illumina GAIIx	Phase_I	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	2	11	---	---	---	---	G	140070252	A	G	140070252	3	3	187	1	0	0	0	0	1	0	0	0	603	188	7	2	552	2	ANAPC2	9	140070252	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	9632074	140070252	1143179	17	8191										
OR5M8	219484	broad.mit.edu	37	chr11	56258763	56258763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	atgtaaatggccagaaacagCgtgaagaggagaatttgtaa	12	4	0	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.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			Somatic					p.T28T	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	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	36	91	---	---	---	---	T	56258763	C	T	56258763	2	4	187	1	0	0	0	0	0	0	0	1	11176	755	27	2		2	OR5M8	11	56258763	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		56258763	78747753	18	8192										
ABCC9	10060	broad.mit.edu	37	chr12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tgttggtgttttgatacagcGctcgtgccacacagattctc	10	10	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.chr12:22012551G>A	ENST00000261201.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.A825V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	80	---	---	---	---	A	22012551	G	A	22012551	3	1	187	1	0	0	0	0	1	0	0	0	59	1087	38	2	2393	2	ABCC9	12	22012551	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		22012551	111839344	19	8193										
TRIM9	114088	broad.mit.edu	37	chr14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	agacaggcttcaaactccacActgttctcctgtgtaacaga	7	12	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.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_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		Somatic				TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	p.S309R	NM_015163.5	NP_055978.4	WXS	Illumina GAIIx	Phase_I	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	11	42	---	---	---	---	C	51489667	A	C	51489667	3	2	187	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		51489667	55859873	20	8194										
BNC1	646	broad.mit.edu	37	chr15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tgtgaagtagtgttcatggcCaccatcctcgacctcccttg	9	13	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.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		Somatic				BNC1_ENST00000569704.1_Missense_Mutation_p.G646R|RP11-382A20.4_ENST00000565495.1_RNA	p.G653R	NM_001717.3	NP_001708.3	WXS	Illumina GAIIx	Phase_I	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	17	54	---	---	---	---	G	83932046	C	G	83932046	3	3	187	1	0	0	0	0	1	0	0	0	1474	594	21	4	1035	4	BNC1	15	83932046	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		83932046	18599346	21	8195										
COG7	91949	broad.mit.edu	37	chr16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	aggcatcatagagtccggtaAgctgccggtccagggatagg	15	9	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.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		Somatic					p.L250P	NM_153603.3	NP_705831.1	WXS	Illumina GAIIx	Phase_I	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	9	43	---	---	---	---	G	23444927	A	G	23444927	3	3	187	1	0	0	0	0	1	0	0	0	3663	72	3	2	1611	2	COG7	16	23444927	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08		23444927	66909826	22	8196										
ZZEF1	23140	broad.mit.edu	37	chr17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	acagagcttcttcaggagttCtgtgaggacgctgaactctc	11	10	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.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*		Somatic				ZZEF1_ENST00000574474.1_5'UTR	p.E1063*	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	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	9	16	---	---	---	---	A	3979978	C	A	3979978	4	1	187	1	0	0	0	0	0	1	0	0	18252	922	32	3	5838	3	ZZEF1	17	3979978	Nonsense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		3979978	77215232	23	8197										
PHF23	79142	broad.mit.edu	37	chr17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	tctggatggttcgaagatctGagggggccgagtcccagcca	15	10	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.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	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		Somatic				PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	p.S82L	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	WXS	Illumina GAIIx	Phase_I	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	24	98	---	---	---	---	A	7140001	G	A	7140001	3	1	187	1	0	0	0	0	1	0	0	0	11835	1294	45	2	974	2	PHF23	17	7140001	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	3160023	7140001	74055209	24	8198										
ZNF236	7776	broad.mit.edu	37	chr18	74592173	74592173	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	agcgacgtcatccagcagctCctggagctctcagagccggc	12	15	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.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			Somatic				ZNF236_ENST00000320610.9_Silent_p.L363L	p.L361L	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	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	8	26	---	---	---	---	A	74592173	C	A	74592173	2	1	187	1	0	0	0	0	0	0	0	1	17786	842	30	3		3	ZNF236	18	74592173	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		74592173	3485075	25	8199										
CRYBB2	1415	broad.mit.edu	37	chr22	25627721	25627721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	cagtggcaccaacgtggtgcCttccacccctccaactagtg	9	16	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.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			Somatic					p.A200A	NM_000496.2	NP_000487.1	WXS	Illumina GAIIx	Phase_I	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	17	50	---	---	---	---	T	25627721	C	T	25627721	2	4	187	1	0	0	0	0	0	0	0	1	3911	668	24	2		2	CRYBB2	22	25627721	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		25627721	25676845	26	8200										
DDX26B	203522	broad.mit.edu	37	chrX	134709032	134709032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	cccttcatagtgttccagttGcacaaatgggtaactatcag	8	10	2	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.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		Somatic				DDX26B_ENST00000481908.1_3'UTR	p.A552T	NM_182540.4	NP_872346.3	WXS	Illumina GAIIx	Phase_I	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	3	58	---	---	---	---	A	134709032	G	A	134709032	3	1	187	1	0	0	0	0	1	0	0	0	4353	1319	46	2	1704	2	DDX26B	23	134709032	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		134709032	20561528	27	8201										
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.06329113924051	0	1.24050632911392	0.4	1	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	10	14	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.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			Somatic					p.H174H	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	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	3	60	---	---	---	---	T	151869832	C	T	151869832	2	4	187	1	0	0	0	0	0	0	0	1	9170	535	19	2		2	MAGEA6	23	151869832	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	17160800	151869832	3400728	28	8202										
KCNN3	3782	broad.mit.edu	37	chr1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gtacaggatgcgctcgtaggTcatggctatccgccagtcat	12	11	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.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																																						ENST00000271915.4																			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		Somatic				KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	p.T359A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	WXS	Illumina GAIIx	Phase_I	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)							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	9	30	---	---	---	---	C	154744824	T	C	154744824	3	2	188	1	0	0	0	0	1	0	0	0	8080	1667	58	2	1144	2	KCNN3	1	154744824	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08		154744824	94505797	1	8203										
KIF26B	55083	broad.mit.edu	37	chr1	245850131	245850131	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tcttccatcagctcctggctGagcgagatgagcgcgggcag	14	12	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.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			Somatic				KIF26B_ENST00000407071.2_Silent_p.L1282L	p.L901L			WXS	Illumina GAIIx	Phase_I	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	12	35	---	---	---	---	A	245850131	G	A	245850131	2	1	188	1	0	0	0	0	0	0	0	1	8295	1277	45	2		2	KIF26B	1	245850131	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	91105307	245850131	3400490	2	8204										
TANC1	85461	broad.mit.edu	37	chr2	160035657	160035657	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gcagacggggaaaacacggcCttcctgtgtgagcccaggta	14	11	0	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			Somatic				TANC1_ENST00000454300.1_Silent_p.A725A	p.A831A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	WXS	Illumina GAIIx	Phase_I	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	46	77	---	---	---	---	G	160035657	C	G	160035657	2	3	188	1	0	0	0	0	0	0	0	1	15541	668	24	4		4	TANC1	2	160035657	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		160035657	83163716	3	8205										
CNTN6	27255	broad.mit.edu	37	chr3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	agtaaacatccatggaggtgGaggaagtcggtctgaactcg	14	7	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.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E			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		Somatic				CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E	p.G711E			WXS	Illumina GAIIx	Phase_I	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	23	59	---	---	---	---	A	1418725	G	A	1418725	3	1	188	1	0	0	0	0	1	0	0	0	3645	1174	41	2	2194	2	CNTN6	3	1418725	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		1418725	196603705	4	8206										
VGLL4	9686	broad.mit.edu	37	chr3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	cgtcatcagcatgcaccagaGatgctgccctggacaaaaca	9	13	2	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.chr3:11744471G>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		Somatic				VGLL4_ENST00000404339.1_5'UTR	p.S13Y	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	11744471	G	T	11744471	3	4	188	1	0	0	0	0	1	0	0	0	17158	942	33	3	964	3	VGLL4	3	11744471	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	10325746	11744471	186277959	5	8207										
ARPP21	10777	broad.mit.edu	37	chr3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gcccgccatgaccaagacggCgagttttgggggcatcacgg	15	12	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_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V	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		Somatic				ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V	p.A382V	NM_016300.4	NP_057384.2	WXS	Illumina GAIIx	Phase_I	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	6	29	---	---	---	---	T	35763246	C	T	35763246	3	4	188	1	0	0	0	0	1	0	0	0	978	768	27	2	1204	2	ARPP21	3	35763246	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	24018775	35763246	162259184	6	8208										
EPHB1	2047	broad.mit.edu	37	chr3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gctgctctacaccagctcatGctggactgttggcagaagga	12	11	2	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.chr3:134967232G>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		Somatic				EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	p.M857I	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	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	37	76	---	---	---	---	T	134967232	G	T	134967232	3	4	188	1	0	0	0	0	1	0	0	0	5174	1319	46	3	2625	3	EPHB1	3	134967232	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	99203986	134967232	63055198	7	8209										
UGT2B15	7366	broad.mit.edu	37	chr4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	agagaatcttccaaataattTttagttaaagatgtaggata	7	3	1	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.chr4:69536088T>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		Somatic					p.K83N	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	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	31	81	---	---	---	---	A	69536088	T	A	69536088	3	1	188	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		69536088	121618188	8	8210										
DCHS2	54798	broad.mit.edu	37	chr4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	cattgaagacatacaccaggGttcctatgggaacattctcc	8	11	1	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.chr4:155241971G>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																																						ENST00000357232.4																			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		Somatic					p.T1072I	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3214	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	30	56	---	---	---	---	A	155241971	G	A	155241971	3	1	188	1	0	0	0	0	1	0	0	0	4288	1261	44	2	5583	2	DCHS2	4	155241971	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	85705883	155241971	35912305	9	8211										
GCNT4	51301	broad.mit.edu	37	chr5	74325284	74325284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	atgtgggcatattccacagcCtctaatttggaagcaatgaa	9	8	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.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			Somatic					p.E193E	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	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	22	62	---	---	---	---	T	74325284	C	T	74325284	2	4	188	1	0	0	0	0	0	0	0	1	6303	680	24	2		2	GCNT4	5	74325284	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		74325284	106589976	10	8212										
DST	667	broad.mit.edu	37	chr6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	ttgattcttcctgagcctttTgcaatttggagagtttagtg	10	6	1	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.chr6:56426236T>C	ENST00000361203.3	-	53	13554	c.13547A>G	c.(13546-13548)cAa>cGa	p.Q4516R	DST_ENST00000370754.5_Missense_Mutation_p.Q4696R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R			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		Somatic				DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R	p.Q4696R			WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	C	56426236	T	C	56426236	3	2	188	1	0	0	0	0	1	0	0	0	4783	1812	63	2	9392	2	DST	6	56426236	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08		56426236	114688831	11	8213										
FNDC1	84624	broad.mit.edu	37	chr6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	accgccacgcgtcccctgctCgtccgcccgcagcacggtca	10	21	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.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		Somatic				FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	p.R980C	NM_032532.2	NP_115921.2	WXS	Illumina GAIIx	Phase_I	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	8	24	---	---	---	---	T	159654482	C	T	159654482	3	4	188	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	103228246	159654482	11460585	12	8214										
ELOVL3	83401	broad.mit.edu	37	chr10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	ccttcatcatcctgcgtaagCggccactcatctttattcac	5	15	5	0	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		Somatic					p.R139W	NM_152310.1	NP_689523.1	WXS	Illumina GAIIx	Phase_I	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	36	91	---	---	---	---	T	103988611	C	T	103988611	3	4	188	1	0	0	0	0	1	0	0	0	5075	759	27	2	429	2	ELOVL3	10	103988611	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		103988611	31546136	13	8215										
IKZF5	64376	broad.mit.edu	37	chr10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gtgtggattctgatgtgttcAataagccgggctgttccttt	12	7	2	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.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	IKZF5_ENST00000479103.1_5'Flank|PSTK_ENST00000497219.1_Intron	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		Somatic				PSTK_ENST00000497219.1_Intron	p.I98M	NM_001271840.1	NP_001258769.1	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	C	124755532	A	C	124755532	3	2	188	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	14	8216										
CKAP5	9793	broad.mit.edu	37	chr11	46772926	46772926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tttaatttgcataaggtgtgTagcagggtctttagggtcct	12	5	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.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Silent_p.L1704L|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			Somatic				CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000415402.1_Silent_p.L1764L	p.L1764L			WXS	Illumina GAIIx	Phase_I	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	37	73	---	---	---	---	C	46772926	T	C	46772926	2	2	188	1	0	0	0	0	0	0	0	1	3445	1625	57	2		2	CKAP5	11	46772926	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08		46772926	88233590	15	8217										
GAB2	9846	broad.mit.edu	37	chr11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tgttgctgggcgtcttgaagGtgtacacatcctcattatct	10	9	3	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.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000340149.2_Missense_Mutation_p.T256N|GAB2_ENST00000526030.1_5'Flank	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		Somatic				GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	p.T294N	NM_080491.2	NP_536739.1	WXS	Illumina GAIIx	Phase_I	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	8	79	---	---	---	---	T	77937837	G	T	77937837	3	4	188	1	0	0	0	0	1	0	0	0	6149	1261	44	3	1177	3	GAB2	11	77937837	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	31164911	77937837	57068679	16	8218										
CEP164	22897	broad.mit.edu	37	chr11	117241960	117241960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	agtggagcaagacctggtctTccagaaaaagaggaaaatga	12	6	1	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.chr11:117241960T>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			Somatic				CEP164_ENST00000533706.1_3'UTR	p.L310L	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	WXS	Illumina GAIIx	Phase_I	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	51	95	---	---	---	---	C	117241960	T	C	117241960	2	2	188	1	0	0	0	0	0	0	0	1	3249	1770	62	2		2	CEP164	11	117241960	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08	39304123	117241960	17764556	17	8219										
HSPA8	3312	broad.mit.edu	37	chr11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	gcagagacattgagtataccAttggcatcaatgtcaaaagt	9	7	2	2	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	SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000534624.1_Missense_Mutation_p.N483K|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K			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		Somatic				HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K	p.N483K	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	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	25	55	---	---	---	---	C	122929413	A	C	122929413	3	2	188	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	18	8220										
SLC24A6	80024	broad.mit.edu	37	chr12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tgactcccagaatcagaaacAggtagagcagccaggaaacc	10	11	1	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.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR			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											c.(328-330)cTg>cAg		solute carrier family 8 (sodium/lithium/calcium exchanger), member B1							41	46	44					12																	113758894		2203	4300	6503	SO:0001583	missense	80024							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		Somatic				SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q	p.L110Q			WXS	Illumina GAIIx	Phase_I					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	20	55	---	---	---	---	T	113758894	A	T	113758894	3	4	188	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	19	8221										
SLITRK1	114798	broad.mit.edu	37	chr13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	cattgttttccatgtgcaaaCtaaccgcattataaaagtta	5	8	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.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		Somatic					p.S86T	NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	WXS	Illumina GAIIx	Phase_I	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	29	44	---	---	---	---	G	84455386	C	G	84455386	3	3	188	1	0	0	0	0	1	0	0	0	14742	565	20	4	1837	4	SLITRK1	13	84455386	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		84455386	30714492	20	8222										
PTPN9	5780	broad.mit.edu	37	chr15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tcactaagatggtgaattttCcactgaggatctcagaacga	9	8	2	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.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		Somatic					p.G94E	NM_002833.2	NP_002824.1	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	T	75816566	C	T	75816566	3	4	188	1	0	0	0	0	1	0	0	0	12794	855	30	2	1544	2	PTPN9	15	75816566	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		75816566	26714826	21	8223										
MEFV	4210	broad.mit.edu	37	chr16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	ggcagcggggactcgcagccGtgtctggtggccttcctggg	18	12	1	0	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_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	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		Somatic				MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	p.T309M	NM_000243.2	NP_000234.1	WXS	Illumina GAIIx	Phase_I	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	7	38	---	---	---	---	A	3299765	G	A	3299765	3	1	188	1	0	0	0	0	1	0	0	0	9459	1145	40	2	1451	2	MEFV	16	3299765	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		3299765	87054988	22	8224										
ZCCHC14	23174	broad.mit.edu	37	chr16	87451066	87451066	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	cagccagaaaaccgacatacCttctccatggagagctgctt	8	13	1	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.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.(970-972)aaG>aaC		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			Somatic	OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.K324N	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1189	-			324					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.972G>C	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	64	140	---	---	---	---	G	87451066	C	G	87451066	5	3	188	1	0	0	0	0	0	0	1	0	17580	695	24	4	1901	4	ZCCHC14	16	87451066	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	84151301	87451066	2903687	23	8225										
C17orf53	78995	broad.mit.edu	37	chr17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tactccctcaaggactagctCtggattatttcctcggatac	7	12	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.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		Somatic				C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	WXS	Illumina GAIIx	Phase_I	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	93	180	---	---	---	---	G	42226166	C	G	42226166	3	3	188	1	0	0	0	0	1	0	0	0	1862	913	32	4	1005	4	C17orf53	17	42226166	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		42226166	38969044	24	8226										
TUBB4	10382	broad.mit.edu	37	chr19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	aagtagctgctgttcttgctCtgcacgctcagcatctgctc	9	13	4	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.chr19:6495508C>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		Somatic				TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H	p.Q334H			WXS	Illumina GAIIx	Phase_I	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	154	286	---	---	---	---	G	6495508	C	G	6495508	3	3	188	1	0	0	0	0	1	0	0	0	16755	912	32	4	336	4	TUBB4	19	6495508	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		6495508	52633475	25	8227										
CEACAM7	1087	broad.mit.edu	37	chr19	42192031	42192031	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	ccaggaagtcctcccctcacCtgtgagcaggagcccctgcc	10	18	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.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.(64-66)Gcc>Acc		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			Somatic				CEACAM7_ENST00000338196.4_Splice_Site_p.A22T|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron	p.A22T	NM_006890.3	NP_008821.1	WXS	Illumina GAIIx	Phase_I	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.64G>A	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	21	49	---	---	---	---	T	42192031	C	T	42192031	5	4	188	1	0	0	0	0	0	0	1	0	3197	695	24	2	749	2	CEACAM7	19	42192031	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	35696523	42192031	16936952	26	8228										
MAPRE1	22919	broad.mit.edu	37	chr20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-													0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	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)tttfs		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		Somatic					p.F47fs	NM_012325.2	NP_036457.1	WXS	Illumina GAIIx	Phase_I	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	188	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	27	8229										
ITSN1	6453	broad.mit.edu	37	chr21	35237515	35237515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	cctgtgaagatgattggagaCatcctgagcgcacagctgcc	12	11	0	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.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.D1312D	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			Somatic				ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000437442.2_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	p.D1317D	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	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	7	26	---	---	---	---	T	35237515	C	T	35237515	2	4	188	1	0	0	0	0	0	0	0	1	7926	477	17	2		2	ITSN1	21	35237515	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		35237515	12892380	28	8230										
DMD	1756	broad.mit.edu	37	chrX	31986568	31986568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	tgaggattgctgaattatttCttccccagttgcattcaatg	8	8	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:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q	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		Somatic				DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	p.E2168Q	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	WXS	Illumina GAIIx	Phase_I	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	12	26	---	---	---	---	G	31986568	C	G	31986568	3	3	188	1	0	0	0	0	1	0	0	0	4580	922	32	4	4843	4	DMD	23	31986568	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		31986568	123283992	29	8231										
RPS6KA6	27330	broad.mit.edu	37	chrX	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-													0.133333333333333	4	1	1.56592292089249	3.32758620689655	0.605015673981191	0.523809523809524	1	0	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)gaaggafs		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		Somatic				RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	p.EG49fs	NM_014496.4	NP_055311.1	WXS	Illumina GAIIx	Phase_I	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	188	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	51424623	83411191	71859369	30	8232										
ALG14	199857	broad.mit.edu	37	chr1	95538385	95538385	+	Frame_Shift_Del	DEL	C	C	-													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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																																						ENST00000370205.5																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(70-72)gtafs		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		Somatic				ALG14_ENST00000495856.1_5'UTR	p.V25fs	NM_144988.3	NP_659425.1	WXS	Illumina GAIIx	Phase_I	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	116	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)						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	189	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	8233										
KCNT2	343450	broad.mit.edu	37	chr1	196274364	196274364	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ttgataatgtggggtcttacCttttccagttttgaaagagc	10	6	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.chr1:196274364C>A	ENST00000294725.9	-	22	3510	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Splice_Site_p.K841N|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.(2521-2523)aaG>aaT		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			Somatic				KCNT2_ENST00000294725.9_Splice_Site_p.K865N|KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000609185.1_Splice_Site_p.K791N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron	p.K841N	NM_198503.2	NP_940905.2	WXS	Illumina GAIIx	Phase_I	Q6UVM3	KCNT2_HUMAN			21	2624	-			865					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.2523G>T	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	3	33	---	---	---	---	A	196274364	C	A	196274364	5	1	189	1	0	0	0	0	0	0	1	0	8092	695	24	1	840	1	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HC-8265-01A-11D-2260-08	100735979	196274364	52976257	2	8234										
OBSCN	84033	broad.mit.edu	37	chr1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ggtcgccggggagtacagctGcgaggcggggagccagcggc	21	11	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.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_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y	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		Somatic				OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y	p.C1606Y	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	15	39	---	---	---	---	A	228444583	G	A	228444583	3	1	189	1	0	0	0	0	1	0	0	0	10812	1319	46	2	4595	2	OBSCN	1	228444583	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	32170219	228444583	20806038	3	8235										
POTEE	445582	broad.mit.edu	37	chr2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ccacgacgactctgctatgaAgacactcaggagcaagatgg	11	11	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.chr2:131976139A>C	ENST00000356920.5	+	1	258	c.164A>C	c.(163-165)aAg>aCg	p.K55T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T	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		Somatic				PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T|PLEKHB2_ENST00000404460.1_Intron	p.K55T	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	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	15	266	---	---	---	---	C	131976139	A	C	131976139	3	2	189	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	8236										
TTN	7273	broad.mit.edu	37	chr2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ttgcgtggctctggtacatcAtaaggcatccggagttttct	11	9	3	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.chr2:179397722A>T	ENST00000591111.1	-	308	98921	c.98697T>A	c.(98695-98697)taT>taA	p.Y32899*	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y34540*|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000590807.1_RNA			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*		Somatic				TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA	p.Y34540*	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	34	120	---	---	---	---	T	179397722	A	T	179397722	4	4	189	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	8237										
STAT1	6772	broad.mit.edu	37	chr2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gacattcagcaactctattaTtttgtgaactacttcctaaa	4	9	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.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_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|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		Somatic				STAT1_ENST00000392323.2_Missense_Mutation_p.I219L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T	p.I217L	NM_007315.3	NP_009330.1	WXS	Illumina GAIIx	Phase_I	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	15	27	---	---	---	---	G	191862718	T	G	191862718	3	3	189	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	8238										
LANCL1	10314	broad.mit.edu	37	chr2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agtcagcacttcatacctgcCcagccagtgtaaccggtgcc	9	15	2	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.chr2:211336687C>T	ENST00000443314.1	-	2	537	c.195G>A	c.(193-195)tgG>tgA	p.W65*	LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000233714.4_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*		Somatic				LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*	p.W65*			WXS	Illumina GAIIx	Phase_I	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	108	395	---	---	---	---	T	211336687	C	T	211336687	4	4	189	1	0	0	0	0	0	1	0	0	8620	624	22	2	1036	2	LANCL1	2	211336687	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	19473969	211336687	31862686	7	8239										
TNS1	7145	broad.mit.edu	37	chr2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ctgctggcgtggaggtgggcGaggctgctgctgctgctgct	19	10	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_ENST00000419504.1_Missense_Mutation_p.R661C|TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000480665.1_5'Flank	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		Somatic				TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000419504.1_Missense_Mutation_p.R661C	p.R661C	NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	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	3	6	---	---	---	---	A	218712884	G	A	218712884	3	1	189	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	8240										
UGT1A7	54577	broad.mit.edu	37	chr2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aattctccaaacccctgtcaCggcatatgatctctacagcc	5	15	3	1	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	UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_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	54577							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		Somatic				UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	p.T240M	NM_019077.2	NP_061950.2	WXS	Illumina GAIIx	Phase_I				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	28	514	---	---	---	---	T	234591302	C	T	234591302	3	4	189	1	0	0	0	0	1	0	0	0	16947	536	19	2	721	2	UGT1A7	2	234591302	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	15878418	234591302	8608071	9	8241										
AGXT	189	broad.mit.edu	37	chr2	241814527	241814527	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cctgcttctttctccccagaAagaagatgtactcccgcaag	7	14	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.chr2:241814527A>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.(682-684)Aag>Cag		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			Somatic					p.K228Q	NM_000030.2	NP_000021.1	WXS	Illumina GAIIx	Phase_I	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.682A>C	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	16	37	---	---	---	---	C	241814527	A	C	241814527	5	2	189	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	8242										
TBC1D5	9779	broad.mit.edu	37	chr3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gtggtctagcaaagggaatgGgagtcatcagtgtttctttc	13	6	4	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.chr3:17413717G>T	ENST00000253692.7	-	13	2509	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000446818.2_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		Somatic				TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000414318.2_Intron	p.P282H	NM_014744.2	NP_055559.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	T	17413717	G	T	17413717	3	4	189	1	0	0	0	0	1	0	0	0	15620	1232	43	1	1652	1	TBC1D5	3	17413717	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17413717	180608713	11	8243										
IL12A	3592	broad.mit.edu	37	chr3	159710861	159710861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	attgatcatgaagatatcacAaaagataaaaccagcacagt	6	7	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.chr3:159710861A>G	ENST00000305579.2	+	3	634	c.327A>G	c.(325-327)acA>acG	p.T109T	IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T	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			Somatic				IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T	p.T109T	NM_000882.3	NP_000873.2	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	G	159710861	A	G	159710861	2	3	189	1	0	0	0	0	0	0	0	1	7624	117	5	2		2	IL12A	3	159710861	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	142297144	159710861	38311569	12	8244										
OPA1	4976	broad.mit.edu	37	chr3	193332788	193332788	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ctcttaaaacttcgctatctCatactaggatcggctgttgg	8	10	2	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.chr3:193332788C>T	ENST00000392438.3	+	2	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361510.2_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000361715.2_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			Somatic				OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L	p.L103L	NM_130837.2	NP_570850.2	WXS	Illumina GAIIx	Phase_I	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	5	60	---	---	---	---	T	193332788	C	T	193332788	2	4	189	1	0	0	0	0	0	0	0	1	10871	813	29	2		2	OPA1	3	193332788	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	33621927	193332788	4689642	13	8245										
PPARGC1A	10891	broad.mit.edu	37	chr4	23815648	23815648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tgttcattactgaaatcactGtccctcagttcaccggtctt	6	12	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.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			Somatic				PPARGC1A_ENST00000509702.1_5'UTR	p.D486D	NM_013261.3	NP_037393.1	WXS	Illumina GAIIx	Phase_I	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	34	102	---	---	---	---	A	23815648	G	A	23815648	2	1	189	1	0	0	0	0	0	0	0	1	12300	1368	48	2		2	PPARGC1A	4	23815648	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		23815648	167338628	14	8246										
GABRG1	2565	broad.mit.edu	37	chr4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	acagaagaagctggcacaatCtttgccctccaaacactgat	7	12	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.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		Somatic					p.D411Y	NM_173536.3	NP_775807.2	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	A	46043172	C	A	46043172	3	1	189	1	0	0	0	0	1	0	0	0	6171	913	32	3	170	3	GABRG1	4	46043172	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	22227524	46043172	145111104	15	8247										
IL31RA	133396	broad.mit.edu	37	chr5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tgagaccaaggtggagaacaTtggcgtgaagacggtcacga	15	7	1	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.chr5:55204129T>C	ENST00000447346.2	+	11	1456	c.1391T>C	c.(1390-1392)aTt>aCt	p.I464T	IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000396834.1_Missense_Mutation_p.I445T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T	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		Somatic				IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T	p.I445T	NM_001242638.1	NP_001229567.1	WXS	Illumina GAIIx	Phase_I	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	5	51	---	---	---	---	C	55204129	T	C	55204129	3	2	189	1	0	0	0	0	1	0	0	0	7691	1493	52	2	1433	2	IL31RA	5	55204129	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		55204129	125711131	16	8248										
UTP15	84135	broad.mit.edu	37	chr5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	AGTGGAGAGTGTCCTA	-													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	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)ccagtggagagtgtcctafs		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		Somatic				UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	p.PVESVL208fs	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	WXS	Illumina GAIIx	Phase_I	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	189	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	17	8249										
SEMA6A	57556	broad.mit.edu	37	chr5	115813744	115813744	+	Frame_Shift_Del	DEL	G	G	-													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|SEMA6A_ENST00000257414.8_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)cttfs		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		Somatic				SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs	p.L512fs	NM_020796.3	NP_065847	WXS	Illumina GAIIx	Phase_I	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	189	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	18	8250										
DMXL1	1657	broad.mit.edu	37	chr5	118507503	118507504	+	Frame_Shift_Ins	INS	-	-	T													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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)ctgfs		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		Somatic				DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.L2174fs	p.L2174fs	NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	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	189	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	19	8251										
KIF20A	10112	broad.mit.edu	37	chr5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agactttgcggctatgcgagGatcaaaatggcaatccctat	10	9	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.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		Somatic				KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	p.D334Y	NM_005733.2	NP_005724.1	WXS	Illumina GAIIx	Phase_I	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	14	53	---	---	---	---	T	137519025	G	T	137519025	3	4	189	1	0	0	0	0	1	0	0	0	8286	1174	41	3	1026	3	KIF20A	5	137519025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	19011522	137519025	43396235	20	8252										
DSP	1832	broad.mit.edu	37	chr6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agtggaagcttaccgctgtgGactgaaggtaacttgaaagc	13	7	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.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		Somatic				DSP_ENST00000418664.2_Missense_Mutation_p.G810E	p.G810E	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	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	9	37	---	---	---	---	A	7575021	G	A	7575021	3	1	189	1	0	0	0	0	1	0	0	0	4781	1174	41	2	2495	2	DSP	6	7575021	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		7575021	163540046	21	8253										
TBC1D7	51256	broad.mit.edu	37	chr6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ccttacgatacatcatcaccTtggcatgggactcgtggtgt	10	11	2	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.chr6:13321294T>C	ENST00000379300.3	-	4	470	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TBC1D7_ENST00000607658.1_Missense_Mutation_p.K49R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R	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		Somatic				TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|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	p.K49R			WXS	Illumina GAIIx	Phase_I	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	17	257	---	---	---	---	C	13321294	T	C	13321294	3	2	189	1	0	0	0	0	1	0	0	0	15621	1609	56	2	674	2	TBC1D7	6	13321294	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	5746273	13321294	157793773	22	8254										
ZNF311	282890	broad.mit.edu	37	chr6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tttgtgaggcttctctccagTgtgaattcttcgatgattgg	11	7	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.chr6:28963131T>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		Somatic				ZNF311_ENST00000483450.1_5'UTR	p.T550A	NM_001010877.2	NP_001010877.2	WXS	Illumina GAIIx	Phase_I	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	4	72	---	---	---	---	C	28963131	T	C	28963131	3	2	189	1	0	0	0	0	1	0	0	0	17831	1696	59	2	356	2	ZNF311	6	28963131	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	15641837	28963131	142151936	23	8255										
OR2J2	26707	broad.mit.edu	37	chr6	29142063	29142063	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cctctcattctcattctcacTacctatggtgccattgcccg	5	16	3	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.chr6:29142063T>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			Somatic					p.T217T	NM_030905.2	NP_112167.2	WXS	Illumina GAIIx	Phase_I	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	6	70	---	---	---	---	A	29142063	T	A	29142063	2	1	189	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	24	8256										
GPR110	266977	broad.mit.edu	37	chr6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tgctccagccgtgtgaaggtAgcagttctggggatcaaggc	15	9	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.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		Somatic				GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR	p.Y123H	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	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	21	33	---	---	---	---	G	46991864	A	G	46991864	3	3	189	1	0	0	0	0	1	0	0	0	6627	420	15	2	2459	2	GPR110	6	46991864	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	17849801	46991864	124123203	25	8257										
FAM83B	222584	broad.mit.edu	37	chr6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ccatatccgctttttgcaacAacgaatgccaacccttgaac	5	14	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.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		Somatic					p.Q479L	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	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	4	111	---	---	---	---	T	54805205	A	T	54805205	3	4	189	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	26	8258										
MDN1	23195	broad.mit.edu	37	chr6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agggtgctgtggtgcccgacTtgatttcctctggcttcagc	13	11	2	1	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		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R	p.K5213R			WXS	Illumina GAIIx	Phase_I	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	46	103	---	---	---	---	C	90363906	T	C	90363906	3	2	189	1	0	0	0	0	1	0	0	0	9415	1609	56	2	1192	2	MDN1	6	90363906	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	35558701	90363906	80751161	27	8259										
RBM16	22828	broad.mit.edu	37	chr6	155131226	155131226	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aaagcgatcacgctcccgctCaagagaaagaaagaggaaat	10	9	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.chr6:155131226C>G	ENST00000367178.3	+	12	1880	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*	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*		Somatic				SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*	p.S435*	NM_014892.3	NP_055707.3	WXS	Illumina GAIIx	Phase_I	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	8	89	---	---	---	---	G	155131226	C	G	155131226	4	3	189	1	0	0	0	0	0	1	0	0	13118	838	29	4	1350	4	RBM16	6	155131226	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	64767320	155131226	15983841	28	8260										
SNX13	23161	broad.mit.edu	37	chr7	17885263	17885263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gtctacaagaatgctgtccaGggggactgtgcaaagtttcc	12	9	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.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			Somatic				SNX13_ENST00000428135.3_Silent_p.L374L	p.L374L			WXS	Illumina GAIIx	Phase_I	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	4	12	---	---	---	---	A	17885263	G	A	17885263	2	1	189	1	0	0	0	0	0	0	0	1	14884	991	35	2		2	SNX13	7	17885263	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17885263	141253400	29	8261										
PCLO	27445	broad.mit.edu	37	chr7	82545752	82545752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cttggtcgctcaatgccatgCtgactttctattcgggttgg	11	10	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.chr7:82545752C>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																																						ENST00000333891.9																			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			Somatic				PCLO_ENST00000423517.2_Silent_p.Q3850Q|PCLO_ENST00000437081.1_Silent_p.Q570Q	p.Q3850Q	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	11887	-						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	14	293	---	---	---	---	T	82545752	C	T	82545752	2	4	189	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82545752	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	64660489	82545752	76592911	30	8262										
ZNF282	8427	broad.mit.edu	37	chr7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gcgagaagagcttcaactgcCactcgggcctcatccgccac	10	16	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.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		Somatic				ZNF282_ENST00000479907.1_3'UTR	p.H558Y	NM_003575.2	NP_003566.1	WXS	Illumina GAIIx	Phase_I	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	6	29	---	---	---	---	T	148921395	C	T	148921395	3	4	189	1	0	0	0	0	1	0	0	0	17816	594	21	2	1702	2	ZNF282	7	148921395	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	66375643	148921395	10217268	31	8263										
TMEM176A	55365	broad.mit.edu	37	chr7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tttggaatgaagatttccgaTatggctactcttattacaac	7	7	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.chr7:150500789T>C	ENST00000484928.1	+	5	1005	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H|TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176B_ENST00000447204.2_5'Flank			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		Somatic				TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H	p.Y142H			WXS	Illumina GAIIx	Phase_I	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	8	130	---	---	---	---	C	150500789	T	C	150500789	3	2	189	1	0	0	0	0	1	0	0	0	16089	1406	49	2	438	2	TMEM176A	7	150500789	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	1579394	150500789	8637874	32	8264										
POLR3D	661	broad.mit.edu	37	chr8	22105704	22105704	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gtggatgtgtcagacatgggAccttctcatatcatcaacat	9	9	4	1	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			Somatic				POLR3D_ENST00000306433.4_Silent_p.G133G	p.G133G			WXS	Illumina GAIIx	Phase_I	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	7	34	---	---	---	---	G	22105704	A	G	22105704	2	3	189	1	0	0	0	0	0	0	0	1	12231	262	10	2		2	POLR3D	8	22105704	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08		22105704	124258318	33	8265										
ZFHX4	79776	broad.mit.edu	37	chr8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aaaagaggaaaaaatctcatCtgctctttcagtgttgggca	9	7	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.chr8:77775621C>G	ENST00000521891.2	+	11	10119	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|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)	Somatic				ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	p.S3224C	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	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	3	88	---	---	---	---	G	77775621	C	G	77775621	3	3	189	1	0	0	0	0	1	0	0	0	17632	913	32	4	9709	4	ZFHX4	8	77775621	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	55669917	77775621	68588401	34	8266										
CHRAC1	54108	broad.mit.edu	37	chr8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aagatgaggagaatgacaatGataatgaaagtgaccatgat	11	3	0	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.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		Somatic				CHRAC1_ENST00000519533.1_3'UTR	p.D121H	NM_017444.5	NP_059140.1	WXS	Illumina GAIIx	Phase_I	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	7	67	---	---	---	---	C	141525311	G	C	141525311	3	2	189	1	0	0	0	0	1	0	0	0	3371	1290	45	4	371	4	CHRAC1	8	141525311	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	63749690	141525311	4838711	35	8267										
TMC1	117531	broad.mit.edu	37	chr9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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_ENST00000340019.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR	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		Somatic				TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P	p.A738P	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	C	75445550	G	C	75445550	3	2	189	1	0	0	0	0	1	0	0	0	15981	971	34	4	2286	4	TMC1	9	75445550	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		75445550	65767881	36	8268	13	2								
TMC1	117531	broad.mit.edu	37	chr9	75445552	75445552	+	Silent	SNP	T	T	G													0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	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_ENST00000340019.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR	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			Somatic				TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000340019.3_Silent_p.A738A	p.A738A	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	G	75445552	T	G	75445552	2	3	189	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	37	8269	13	2								
ARPC5L	81873	broad.mit.edu	37	chr9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agcgcagtgttactccagtgGcacgaaaaggtatgtgaacg	13	8	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.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		Somatic				ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C	p.W130C			WXS	Illumina GAIIx	Phase_I	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	8	48	---	---	---	---	C	127637421	G	C	127637421	3	2	189	1	0	0	0	0	1	0	0	0	975	1212	42	4	400	4	ARPC5L	9	127637421	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	52191869	127637421	13576010	38	8270										
PCDH15	65217	broad.mit.edu	37	chr10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tttcagcctgttccttagtgGcttcaccgctgtattgtcag	9	11	3	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.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)	Somatic				PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	p.P1631T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	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	87	196	---	---	---	---	T	55566503	G	T	55566503	3	4	189	1	0	0	0	0	1	0	0	0	11511	1203	42	3	167	3	PCDH15	10	55566503	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		55566503	79968244	39	8271										
DDIT4	54541	broad.mit.edu	37	chr10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cttccagctgaccctcgtgcTgcgcctggactcacgactct	9	17	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	6	31	---	---	---	---	A	74034783	T	A	74034783	3	1	189	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	40	8272										
MRVI1	10335	broad.mit.edu	37	chr11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	catcctgggttggacttctcGgcagagggctgccctcccag	13	14	1	1	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_ENST00000547195.1_Missense_Mutation_p.P254L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L			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		Somatic				MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L	p.P254L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	A	10647847	G	A	10647847	3	1	189	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	41	8273										
CACNA1C	775	broad.mit.edu	37	chr12	2764406	2764406	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ccgtgctgctcctcttcaggTgggtccctgaagacataggt	12	12	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_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399597.1_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			Somatic				CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site		NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	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	2	13	---	---	---	---	G	2764406	T	G	2764406	5	3	189	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	42	8274										
ADAMTS20	80070	broad.mit.edu	37	chr12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cattaagatcttcattcatgTtgctgtaggtatgaaagggt	10	5	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.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		Somatic				ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	p.N220S	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	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	6	60	---	---	---	---	C	43896163	T	C	43896163	3	2	189	1	0	0	0	0	1	0	0	0	266	1725	60	2	5216	2	ADAMTS20	12	43896163	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	41131757	43896163	89955732	43	8275										
C1QL4	338761	broad.mit.edu	37	chr12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gccgctggctgcctcgtaggCgttgcccacgttggtcacca	13	15	1	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.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		Somatic					p.A138T	NM_001008223.1	NP_001008224.1	WXS	Illumina GAIIx	Phase_I	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	10	14	---	---	---	---	T	49729849	C	T	49729849	3	4	189	1	0	0	0	0	1	0	0	0	1961	768	27	2	312	2	C1QL4	12	49729849	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	5833686	49729849	84122046	44	8276										
FOXA1	3169	broad.mit.edu	37	chr14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tctcgaacatgttgccggagTccgggtgcagcgtccagtag	14	11	1	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.chr14:38061243T>A	ENST00000250448.2	-	2	807	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V	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		Somatic				FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V|FOXA1_ENST00000545425.2_5'UTR	p.D249V	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	13	21	---	---	---	---	A	38061243	T	A	38061243	3	1	189	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		38061243	69288297	45	8277										
YLPM1	56252	broad.mit.edu	37	chr14	75264385	75264385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cgccccgatgggccaagaccCagatatgaaggtcacccagc	11	15	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.chr14:75264385C>T	ENST00000325680.7	+	5	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	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			Somatic				YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	p.P795P	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	T	75264385	C	T	75264385	2	4	189	1	0	0	0	0	0	0	0	1	17483	581	21	2		2	YLPM1	14	75264385	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	37203142	75264385	32085155	46	8278										
TRPM1	4308	broad.mit.edu	37	chr15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tggacttggaggagtggtctTtcaaggcatcccctacgtgg	14	9	2	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.chr15:31359360T>C	ENST00000256552.6	-	6	671	c.524A>G	c.(523-525)aAa>aGa	p.K175R	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.K192R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R	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		Somatic				TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R	p.K192R	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	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	3	86	---	---	---	---	C	31359360	T	C	31359360	3	2	189	1	0	0	0	0	1	0	0	0	16582	1841	64	2	4445	2	TRPM1	15	31359360	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		31359360	71172032	47	8279										
CAMTA2	23125	broad.mit.edu	37	chr17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tgctgccttacacatgggctTcagctgtcccaacaactcct	7	15	1	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.chr17:4884982T>G	ENST00000348066.3	-	7	679	c.556A>C	c.(556-558)Aag>Cag	p.K186Q	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.K185Q	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		Somatic				CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q	p.K185Q	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	G	4884982	T	G	4884982	3	3	189	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		4884982	76310228	48	8280										
NEURL4	84461	broad.mit.edu	37	chr17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	ccttgtgaggccaatgtggtCaccctcctaatcaaagaaga	9	11	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.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		Somatic				NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	p.D434N	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					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	12	53	---	---	---	---	T	7229026	C	T	7229026	3	4	189	1	0	0	0	0	1	0	0	0	10347	826	29	2	3480	2	NEURL4	17	7229026	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2344044	7229026	73966184	49	8281										
CDK12	51755	broad.mit.edu	37	chr17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	agacatctgctgtgtcctctCaggcaaattctcagccccct	7	15	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.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)	Somatic				CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	60	136	---	---	---	---	T	37627877	C	T	37627877	4	4	189	1	0	0	0	0	0	1	0	0	3128	827	29	2	1798	2	CDK12	17	37627877	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	30398851	37627877	43567333	50	8282										
STAT3	6774	broad.mit.edu	37	chr17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	caggatggacgcccaggcatTtggcatctgacagatgttgg	14	9	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.chr17:40477031T>C	ENST00000264657.5	-	16	1726	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000588969.1_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		Somatic				STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000588969.1_Missense_Mutation_p.N472D	p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	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	5	136	---	---	---	---	C	40477031	T	C	40477031	3	2	189	1	0	0	0	0	1	0	0	0	15265	1841	64	2	934	2	STAT3	17	40477031	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	2849154	40477031	40718179	51	8283										
SECTM1	6398	broad.mit.edu	37	chr17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	cgtgacttgtctgttatttcTctggtgtcccacgaggtgcc	11	11	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.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*		Somatic				SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	p.R124*	NM_003004.2	NP_002995.1	WXS	Illumina GAIIx	Phase_I	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	3	66	---	---	---	---	A	80282491	T	A	80282491	4	1	189	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	39805460	80282491	912719	52	8284										
C18orf8	29919	broad.mit.edu	37	chr18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tcggacctccaacagcacagGagcggaggtggtcctctatc	12	13	1	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.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		Somatic				C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	p.G238V	NM_013326.3	NP_037458.3	WXS	Illumina GAIIx	Phase_I	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	14	46	---	---	---	---	T	21098913	G	T	21098913	3	4	189	1	0	0	0	0	1	0	0	0	1907	1174	41	3	743	3	C18orf8	18	21098913	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		21098913	56978335	53	8285										
NCAN	1463	broad.mit.edu	37	chr19	19338463	19338463	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	gctgcagagaccaaggtgtaTtccctgcctctctctttgac	9	13	2	2	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					ENST00000252575.6																			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			Somatic				NCAN_ENST00000538881.1_Silent_p.Y129Y	p.Y678Y	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2133	+								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	6	200	---	---	---	---	C	19338463	T	C	19338463	2	2	189	1	0	0	0	0	0	0	0	1	10204	1500	52	2		2	NCAN	19	19338463	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08		19338463	39790520	54	8286										
MAG	4099	broad.mit.edu	37	chr19	35786682	35786682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	taccccaagaactaccccccGgtggtcttcaagtcgcgcac	8	17	2	1	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_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Silent_p.P71P|MAG_ENST00000537831.2_Silent_p.P46P	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			Somatic				MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron|MAG_ENST00000392213.3_Silent_p.P71P	p.P71P	NM_080600.2	NP_542167.1	WXS	Illumina GAIIx	Phase_I	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	10	203	---	---	---	---	A	35786682	G	A	35786682	2	1	189	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	55	8287										
ZNF154	7710	broad.mit.edu	37	chr19	58213660	58213660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aataattttccacattcatcAcattcatgaggtcgtactgc	5	10	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.chr19:58213660A>G	ENST00000512439.2	-	3	853	c.657T>C	c.(655-657)tgT>tgC	p.C219C	ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			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			Somatic				ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron	p.C219C			WXS	Illumina GAIIx	Phase_I	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	34	73	---	---	---	---	G	58213660	A	G	58213660	2	3	189	1	0	0	0	0	0	0	0	1	17732	157	6	2		2	ZNF154	19	58213660	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	22426978	58213660	915323	56	8288										
FGD1	2245	broad.mit.edu	37	chrX	54481902	54481902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	tggcctggagctcgagggagCgctgctttcctgacaccagg	15	12	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		Somatic					p.R665H	NM_004463.2	NP_004454.2	WXS	Illumina GAIIx	Phase_I	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	6	16	---	---	---	---	T	54481902	C	T	54481902	3	4	189	1	0	0	0	0	1	0	0	0	5832	768	27	2	919	2	FGD1	23	54481902	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08		54481902	100788658	57	8289										
CT45A5	441521	broad.mit.edu	37	chrX	134948025	134948025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	6	0.930579858446434	1.87852865697177	4.9311377245509	1.16026769989433	1	1	0	aggtcatctccagagaaattGctggtaacatttcctcccac	7	12	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.chrX:134948025G>T	ENST00000463085.2	-	3	389	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_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																																						ENST00000463085.2																			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		Somatic				CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron	p.S100R			WXS	Illumina GAIIx	Phase_I	Q6NSH3	CT455_HUMAN			3	389	-								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	76	53	---	---	---	---	T	134948025	G	T	134948025	3	4	189	1	0	0	0	0	1	0	0	0	3988	1310	46	3	281	3	CT45A5	23	134948025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	80466123	134948025	20322535	58	8290										
LHX8	431707	broad.mit.edu	37	chr1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	atccaaaaccagcaaaaagaGctcggaccagctttacagca	7	12	0	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.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		Somatic				LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	p.A228S	NM_001001933.1	NP_001001933.1	WXS	Illumina GAIIx	Phase_I	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	7	37	---	---	---	---	T	75609601	G	T	75609601	3	4	190	1	0	0	0	0	1	0	0	0	8776	971	34	3	704	3	LHX8	1	75609601	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		75609601	173641020	1	8291										
GATAD2B	57459	broad.mit.edu	37	chr1	153788813	153788813	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	atgtagatgaactcgctattGgctgcactaggcaagaaatg	11	7	0	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.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			Somatic					p.A384A	NM_020699.2	NP_065750.1	WXS	Illumina GAIIx	Phase_I	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	7	83	---	---	---	---	C	153788813	G	C	153788813	2	2	190	1	0	0	0	0	0	0	0	1	6261	1335	47	4		4	GATAD2B	1	153788813	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	78179212	153788813	95461808	2	8292										
BAZ2B	29994	broad.mit.edu	37	chr2	160289578	160289578	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	agatttacaggtgaggaaaaAggggtgctacttgcagcagc	14	6	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.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_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			Somatic				BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P	p.P530P	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	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	3	111	---	---	---	---	G	160289578	A	G	160289578	2	3	190	1	0	0	0	0	0	0	0	1	1332	59	3	2		2	BAZ2B	2	160289578	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08		160289578	82909795	3	8293										
SLC11A1	6556	broad.mit.edu	37	chr2	219249918	219249918	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	tgttgggcttgctctgccagCgactggctgcacgtctgggc	15	12	2	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.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			Somatic				SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	p.R108R	NM_000578.3	NP_000569.3	WXS	Illumina GAIIx	Phase_I	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	3	126	---	---	---	---	A	219249918	C	A	219249918	2	1	190	1	0	0	0	0	0	0	0	1	14380	760	27	3		3	SLC11A1	2	219249918	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	58960340	219249918	23949455	4	8294										
SLC30A9	10463	broad.mit.edu	37	chr4	42072553	42072553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	cttcatttaggcaatccactGtatgacagcctaggttcttt	7	10	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.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																																						ENST00000264451.7																			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			Somatic					p.L421L	NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			15	1443	+								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	23	110	---	---	---	---	A	42072553	G	A	42072553	2	1	190	1	0	0	0	0	0	0	0	1	14562	1364	48	2		2	SLC30A9	4	42072553	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08		42072553	149081723	5	8295										
PCDHB2	56133	broad.mit.edu	37	chr5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	caccgtctacctggtggtggCgttggcctcggtgtcttcgc	14	13	2	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.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	56133				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		Somatic					p.A695V	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	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	21	212	---	---	---	---	T	140476458	C	T	140476458	3	4	190	1	0	0	0	0	1	0	0	0	11542	768	27	2	2086	2	PCDHB2	5	140476458	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		140476458	40438802	6	8296										
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	15	11	0	1	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		Somatic				ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina GAIIx	Phase_I	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	4	148	---	---	---	---	T	37382282	C	T	37382282	3	4	190	1	0	0	0	0	1	0	0	0	5065	768	27	2	2254	2	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		37382282	121756381	7	8297										
ZNF395	55893	broad.mit.edu	37	chr8	28206326	28206326	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	ccatacaccttgcggcacttCttagcctcccctcgggcttt	7	17	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.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_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			Somatic				ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_Silent_p.K484K	p.K484K	NM_018660.2	NP_061130.1	WXS	Illumina GAIIx	Phase_I	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	6	74	---	---	---	---	T	28206326	C	T	28206326	2	4	190	1	0	0	0	0	0	0	0	1	17878	912	32	2		2	ZNF395	8	28206326	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08		28206326	118157696	8	8298										
CDC14B	8555	broad.mit.edu	37	chr9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	cagcatccgtaaagcgtttgGcatcatacatccttttattc	6	11	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.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000265659.2_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		Somatic				CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_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	WXS	Illumina GAIIx	Phase_I	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	5	35	---	---	---	---	C	99296346	G	C	99296346	3	2	190	1	0	0	0	0	1	0	0	0	3057	1203	42	4	711	4	CDC14B	9	99296346	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		99296346	41917085	9	8299										
PTPN3	5774	broad.mit.edu	37	chr9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	gcatggctgggttccacaccAtcccgccaatcacctttttg	8	15	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.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	5774				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		Somatic				PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron	p.M217R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	WXS	Illumina GAIIx	Phase_I	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	26	194	---	---	---	---	C	112185091	A	C	112185091	3	2	190	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	10	8300										
C9orf96	169436	broad.mit.edu	37	chr9	136260870	136260870	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	ttgatgctccagatcgacccCtcggatcgaataacgataaa	8	11	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.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			Somatic				C9orf96_ENST00000371955.1_5'UTR	p.P282P	NM_153710.3	NP_714921.4	WXS	Illumina GAIIx	Phase_I	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	21	51	---	---	---	---	G	136260870	C	G	136260870	2	3	190	1	0	0	0	0	0	0	0	1	2508	668	24	4		4	C9orf96	9	136260870	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	24075779	136260870	4952561	11	8301										
GPR158	57512	broad.mit.edu	37	chr10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	aagtaataacttccagcaacCtttaacatcacgagcagagg	7	10	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.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		Somatic				GPR158_ENST00000490549.1_3'UTR	p.P1164L	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	T	25888046	C	T	25888046	3	4	190	1	0	0	0	0	1	0	0	0	6663	681	24	2	3533	2	GPR158	10	25888046	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		25888046	109646701	12	8302										
MYO3A	53904	broad.mit.edu	37	chr10	26462763	26462763	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	agagtgtatcagactccaaaAaaaatgaataatgtgtatga	8	4	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.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			Somatic				MYO3A_ENST00000543632.1_Intron	p.K1190K	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	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	8	39	---	---	---	---	G	26462763	A	G	26462763	2	3	190	1	0	0	0	0	0	0	0	1	10076	11	1	2		2	MYO3A	10	26462763	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08	574717	26462763	109071984	13	8303										
PDE3B	5140	broad.mit.edu	37	chr11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	tccaccacaagtcatttcctCtctacggagtattagtagct	6	12	2	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.chr11:14808089C>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		Somatic				PDE3B_ENST00000455098.2_Intron	p.S379F	NM_000922.3	NP_000913.2	WXS	Illumina GAIIx	Phase_I	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	25	117	---	---	---	---	T	14808089	C	T	14808089	3	4	190	1	0	0	0	0	1	0	0	0	11638	913	32	2	1146	2	PDE3B	11	14808089	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		14808089	120198427	14	8304										
MAP3K11	4296	broad.mit.edu	37	chr11	65375265	65375265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	gaggcgaagtcgggcctgcgGtgggggtcctgcgcccagca	19	12	0	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			Somatic				MAP3K11_ENST00000530153.1_Silent_p.H107H	p.H364H	NM_002419.3	NP_002410.1	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	A	65375265	G	A	65375265	2	1	190	1	0	0	0	0	0	0	0	1	9245	1252	44	2		2	MAP3K11	11	65375265	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	50567176	65375265	69631251	15	8305										
PICALM	8301	broad.mit.edu	37	chr11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	ctgtgttcattgttctcataActccatcagccctgttatga	6	11	3	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.chr11:85725995A>G	ENST00000393346.3	-	5	612	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000526033.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A			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		Somatic				PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_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	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	G	85725995	A	G	85725995	3	3	190	1	0	0	0	0	1	0	0	0	11880	43	2	2	1586	2	PICALM	11	85725995	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08	20350730	85725995	49280521	16	8306										
RBL2	5934	broad.mit.edu	37	chr16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	tcacaccagttcctggacagActttggtcaccatggcaacc	8	14	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.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		Somatic				RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.T726A	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	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	10	42	---	---	---	---	G	53504028	A	G	53504028	3	3	190	1	0	0	0	0	1	0	0	0	13110	275	10	2	2234	2	RBL2	16	53504028	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		53504028	36850725	17	8307										
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.11111111111111	0	3.01587301587302	0.333333333333333	1	0	gcctccacagccacagccatAgcccagaccaccaaagcctc	6	20	0	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		Somatic					p.Y23N	NM_181612.2	NP_853643.1	WXS	Illumina GAIIx	Phase_I	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	11	160	---	---	---	---	T	31914086	A	T	31914086	3	4	190	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	18	8308										
MTOR	2475	broad.mit.edu	37	chr1	11210249	11210249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtctcatcattaaccagggTccacttttcacagcactgct	7	13	3	0			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		Somatic					p.T1502A	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	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	5	21	---	---	---	---	C	11210249	T	C	11210249	3	2	191	1	0	0	0	0	1	0	0	0	9954	1667	58	2	3257	2	MTOR	1	11210249	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		11210249	238040372	1	8309										
MRPS25	64432	broad.mit.edu	37	chr3	15106611	15106611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgcgtgttgtaattcactgTcatgaccttcacggagtcct	9	10	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.chr3:15106611T>C	ENST00000253686.2	-	1	231	c.91A>G	c.(91-93)Aca>Gca	p.T31A	MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_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		Somatic				MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A	p.T31A	NM_022497.3	NP_071942.1	WXS	Illumina GAIIx	Phase_I	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	6	10	---	---	---	---	C	15106611	T	C	15106611	3	2	191	1	0	0	0	0	1	0	0	0	9836	1667	58	2	446	2	MRPS25	3	15106611	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		15106611	182915819	2	8310										
ZBBX	79740	broad.mit.edu	37	chr3	166960306	166960306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacttacctcaattcctcaaCtccacagggacccctcacat	3	17	3	0			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_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F	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		Somatic				ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F	p.V755F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	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	16	25	---	---	---	---	A	166960306	C	A	166960306	3	1	191	1	0	0	0	0	1	0	0	0	17513	565	20	3	147	3	ZBBX	3	166960306	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	151853695	166960306	31062124	3	8311										
ACCN5	51802	broad.mit.edu	37	chr4	156784879	156784879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atggcagtggtttctttgaaAggcaaagctttatcttttct	9	6	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.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		Somatic				TDO2_ENST00000506181.1_Intron	p.L23R	NM_017419.2	NP_059115.1	WXS	Illumina GAIIx	Phase_I	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	30	38	---	---	---	---	C	156784879	A	C	156784879	3	2	191	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	4	8312										
PDZD2	23037	broad.mit.edu	37	chr5	32089965	32089965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggctctatcgccaggtcgcAgaatcatccacaagtcatcc	8	14	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			Somatic				PDZD2_ENST00000282493.3_Silent_p.A2137A	p.A2137A			WXS	Illumina GAIIx	Phase_I	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	38	57	---	---	---	---	G	32089965	A	G	32089965	2	3	191	1	0	0	0	0	0	0	0	1	11701	175	7	2		2	PDZD2	5	32089965	Silent	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		32089965	148825295	5	8313										
SHPRH	257218	broad.mit.edu	37	chr6	146264543	146264543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcaccacatatacactcaaaGcggtaatcagaggtgttaaa	7	9	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.chr6:146264543G>A	ENST00000367505.2	-	9	2238	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	SHPRH_ENST00000275233.7_Silent_p.R658R|SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000367503.3_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	41	65	---	---	---	---	A	146264543	G	A	146264543	2	1	191	1	0	0	0	0	0	0	0	1	14291	958	34	2		2	SHPRH	6	146264543	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		146264543	24850524	6	8314										
GTF2E2	2961	broad.mit.edu	37	chr8	30436473	30436473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatgtcagagtaatccttcaGcactccagccaagtgttcgt	8	11	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.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			Somatic					p.L281L	NM_002095.4	NP_002086.1	WXS	Illumina GAIIx	Phase_I	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	33	7	---	---	---	---	A	30436473	G	A	30436473	2	1	191	1	0	0	0	0	0	0	0	1	6857	962	34	2		2	GTF2E2	8	30436473	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		30436473	115927549	7	8315										
TAF1L	138474	broad.mit.edu	37	chr9	32632097	32632097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcatctctgtgattgtttcCtgatgctgctgagcctgcta	9	10	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.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		Somatic					p.G1161R	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	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	10	84	---	---	---	---	T	32632097	C	T	32632097	3	4	191	1	0	0	0	0	1	0	0	0	15520	690	24	2	2003	2	TAF1L	9	32632097	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08		32632097	108581334	8	8316										
POLE	5426	broad.mit.edu	37	chr12	133226399	133226399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caggggctgctgggtgaggcAgctttacgaggccgaagtcc	17	10	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.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		Somatic				POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	p.L1220P	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	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	8	61	---	---	---	---	G	133226399	A	G	133226399	3	3	191	1	0	0	0	0	1	0	0	0	12196	188	7	2	3281	2	POLE	12	133226399	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		133226399	625496	9	8317										
ALPK3	57538	broad.mit.edu	37	chr15	85403130	85403130	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accgacttctgcctcagcccTgagggtgagtgtgccccgcg	13	15	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.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			Somatic					p.P1565P	NM_020778.4	NP_065829.3	WXS	Illumina GAIIx	Phase_I	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	50	62	---	---	---	---	G	85403130	T	G	85403130	2	3	191	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	10	8318										
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	12	12	1	0			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_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000420246.2_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|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	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)	Somatic				TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_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	p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	21	16	---	---	---	---	C	7578509	A	C	7578509	3	2	191	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	11	8319										
PI4KA	5297	broad.mit.edu	37	chr22	21173958	21173958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctggacacactgctggtttTcctcttcagggtaccctcct	9	14	2	0			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		Somatic				PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E	p.K254E	NM_058004.3	NP_477352.3	WXS	Illumina GAIIx	Phase_I	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	53	55	---	---	---	---	C	21173958	T	C	21173958	3	2	191	1	0	0	0	0	1	0	0	0	11873	1792	62	2	5748	2	PI4KA	22	21173958	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		21173958	30130608	12	8320										
APOL5	80831	broad.mit.edu	37	chr22	36123054	36123054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgagcagcttcctgcagagCtggaagcacctggaggatgg	15	9	0	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.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			Somatic					p.S313S	NM_030642.1	NP_085145.1	WXS	Illumina GAIIx	Phase_I	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	32	57	---	---	---	---	T	36123054	C	T	36123054	2	4	191	1	0	0	0	0	0	0	0	1	809	796	28	2		2	APOL5	22	36123054	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	14949096	36123054	15181512	13	8321										
VPS13D	55187	broad.mit.edu	37	chr1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ccgctaagaacagcagcaccAcccaagggtccattcagatt	8	14	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.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		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	p.T2372P	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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	3	12	---	---	---	---	C	12374350	A	C	12374350	3	2	192	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	8322										
PADI4	23569	broad.mit.edu	37	chr1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aacatggacttctacgtggaGgccctcgctttcccggacac	10	14	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.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		Somatic				AC004824.2_ENST00000602074.1_Intron	p.E252D	NM_012387.2	NP_036519.2	WXS	Illumina GAIIx	Phase_I	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	25	39	---	---	---	---	C	17668541	G	C	17668541	3	2	192	1	0	0	0	0	1	0	0	0	11380	991	35	4	782	4	PADI4	1	17668541	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5294191	17668541	231582080	2	8323										
MRTO4	51154	broad.mit.edu	37	chr1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctcttttcccttaggtggttCacgaaatacacagaaatgga	8	9	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.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		Somatic					p.F116L	NM_016183.3	NP_057267.2	WXS	Illumina GAIIx	Phase_I	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	25	55	---	---	---	---	G	19584333	C	G	19584333	3	3	192	1	0	0	0	0	1	0	0	0	9852	825	29	4	370	4	MRTO4	1	19584333	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1915792	19584333	229666288	3	8324										
WASF2	10163	broad.mit.edu	37	chr1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggtattgtatgtttctaagaCaggcactgggagagagtttc	13	5	1	2	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		Somatic				WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	WXS	Illumina GAIIx	Phase_I	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	16	27	---	---	---	---	G	27744831	C	G	27744831	3	3	192	1	0	0	0	0	1	0	0	0	17250	478	17	4	1162	4	WASF2	1	27744831	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	8160498	27744831	221505790	4	8325										
KIAA0754	643314	broad.mit.edu	37	chr1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tggctgcatcccaggatgcaGaaaatttactcgtaattagt	9	8	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.chr1:39877441G>T	ENST00000530275.1	+	1	1291	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_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*		Somatic				MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron	p.E366*	NM_015038.1	NP_055853.1	WXS	Illumina GAIIx	Phase_I	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	10	17	---	---	---	---	T	39877441	G	T	39877441	4	4	192	1	0	0	0	0	0	1	0	0	8192	943	33	3	1506	3	KIAA0754	1	39877441	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12132610	39877441	209373180	5	8326										
DMBX1	127343	broad.mit.edu	37	chr1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gttcaagaaccgccgggccaAgttccggaagaagcagcgta	13	11	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.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		Somatic				DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T	p.K125T	NM_147192.2	NP_671725.1	WXS	Illumina GAIIx	Phase_I	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	8	25	---	---	---	---	C	46976632	A	C	46976632	3	2	192	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	6	8327										
FOXD2	2306	broad.mit.edu	37	chr1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cgccctactcgtacatcgcgCtcatcaccatggccatcctg	7	18	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.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		Somatic					p.L135V	NM_004474.3	NP_004465.3	WXS	Illumina GAIIx	Phase_I	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	12	11	---	---	---	---	G	47904210	C	G	47904210	3	3	192	1	0	0	0	0	1	0	0	0	5997	797	28	4	405	4	FOXD2	1	47904210	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	927578	47904210	201346411	7	8328										
MYSM1	114803	broad.mit.edu	37	chr1	59147849	59147849	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agtgtaatttctgagcttgaAagtgtttcatcttgcttttc	8	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.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			Somatic				MYSM1_ENST00000493821.1_5'UTR	p.L289L	NM_001085487.2	NP_001078956.1	WXS	Illumina GAIIx	Phase_I	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	30	21	---	---	---	---	T	59147849	A	T	59147849	2	4	192	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	8	8329										
DPH5	51611	broad.mit.edu	37	chr1	101487277	101487277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttatctgcttcttgttccacTtcttctctatcagcaacaac	3	13	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.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			Somatic				DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E|DPH5_ENST00000488176.1_Silent_p.E60E	p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	WXS	Illumina GAIIx	Phase_I	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	11	16	---	---	---	---	C	101487277	T	C	101487277	2	2	192	1	0	0	0	0	0	0	0	1	4723	1606	56	2		2	DPH5	1	101487277	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	42339428	101487277	147763344	9	8330										
PSRC1	84722	broad.mit.edu	37	chr1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	caccctcttcatgttggaggGcctctttccagatgtagccc	9	14	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.chr1:109824258G>A	ENST00000438534.2	-	4	640	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S|PSRC1_ENST00000369909.2_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		Somatic				PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S	p.P168S	NM_001005290.3	NP_001005290.1	WXS	Illumina GAIIx	Phase_I	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	19	35	---	---	---	---	A	109824258	G	A	109824258	3	1	192	1	0	0	0	0	1	0	0	0	12719	1203	42	2	580	2	PSRC1	1	109824258	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8336981	109824258	139426363	10	8331										
PEAR1	375033	broad.mit.edu	37	chr1	156877420	156877420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agctgtgacgtgtcctgttcCcagggcacttctggcttctt	11	12	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.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			Somatic				PEAR1_ENST00000292357.7_Silent_p.S221S	p.S221S			WXS	Illumina GAIIx	Phase_I	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	118	122	---	---	---	---	T	156877420	C	T	156877420	2	4	192	1	0	0	0	0	0	0	0	1	11712	610	22	2		2	PEAR1	1	156877420	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	47053162	156877420	92373201	11	8332										
F5	2153	broad.mit.edu	37	chr1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gaatgacacggataaacctgGaaatgattggggggttgaaa	14	4	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.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		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.S2198F	p.S2203F			WXS	Illumina GAIIx	Phase_I	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	10	22	---	---	---	---	A	169483633	G	A	169483633	3	1	192	1	0	0	0	0	1	0	0	0	5348	1174	41	2	85	2	F5	1	169483633	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12606213	169483633	79766988	12	8333										
GPR137B	7107	broad.mit.edu	37	chr1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tcaccgtcgtctacaccgtgTtctacgcgctgctcttcgtg	9	15	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.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		Somatic				GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	p.F52V	NM_003272.3	NP_003263.1	WXS	Illumina GAIIx	Phase_I	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	9	30	---	---	---	---	G	236306076	T	G	236306076	3	3	192	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	66822443	236306076	12944545	13	8334										
RYR2	6262	broad.mit.edu	37	chr1	237756847	237756847	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gtgggctggattacatcagaTttccatcagtatgacacagg	11	8	2	2	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_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D	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			Somatic				RYR2_ENST00000360064.6_Silent_p.D1447D|RYR2_ENST00000542537.1_Silent_p.D1433D	p.D1449D	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	4	61	---	---	---	---	C	237756847	T	C	237756847	2	2	192	1	0	0	0	0	0	0	0	1	13769	1490	52	2		2	RYR2	1	237756847	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	1450771	237756847	11493774	14	8335										
TTC7A	57217	broad.mit.edu	37	chr2	47256512	47256512	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atggccatcaccgagcacccTgagaacttcaagtgagtgcc	10	13	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.chr2:47256512T>A	ENST00000319190.5	+	15	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_ENST00000263737.6_Silent_p.P243P|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR	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			Somatic				TTC7A_ENST00000409245.1_Silent_p.P563P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P	p.P597P	NM_020458.2	NP_065191.2	WXS	Illumina GAIIx	Phase_I	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	24	47	---	---	---	---	A	47256512	T	A	47256512	2	1	192	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	15	8336										
HK2	3099	broad.mit.edu	37	chr2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tttttcaggttgaccagtatCtctaccacatgcgcctctct	6	13	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.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		Somatic				HK2_ENST00000409174.1_5'UTR	p.L26I	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	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	65	119	---	---	---	---	A	75081432	C	A	75081432	3	1	192	1	0	0	0	0	1	0	0	0	7191	913	32	3	82	3	HK2	2	75081432	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	27824920	75081432	168117941	16	8337										
RNF149	284996	broad.mit.edu	37	chr2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgtgctaggagatgggtcctCcatgccgagagtcactcctg	13	11	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.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		Somatic					p.G396V	NM_173647.3	NP_775918.2	WXS	Illumina GAIIx	Phase_I	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	6	5	---	---	---	---	A	101893716	C	A	101893716	3	1	192	1	0	0	0	0	1	0	0	0	13450	855	30	3	19	3	RNF149	2	101893716	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	26812284	101893716	141305657	17	8338										
KIF5C	3800	broad.mit.edu	37	chr2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctctttgggtgggaactgcaGaaccaccatcgtcatttgct	10	11	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.chr2:149806898G>A	ENST00000435030.1	+	10	1258	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR			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		Somatic				KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR	p.R297K			WXS	Illumina GAIIx	Phase_I	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	5	21	---	---	---	---	A	149806898	G	A	149806898	3	1	192	1	0	0	0	0	1	0	0	0	8307	942	33	2	850	2	KIF5C	2	149806898	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	47913182	149806898	93392475	18	8339										
CACNB4	785	broad.mit.edu	37	chr2	152830186	152830186	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tctatgaaaatacttacagcCtccgagtcttcaattccatg	5	11	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.chr2:152830186C>A	ENST00000539935.1	-	3	215				CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000360283.6_Missense_Mutation_p.E14D	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			Somatic				CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000539935.1_Intron|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000475848.1_5'UTR	p.E14D			WXS	Illumina GAIIx	Phase_I	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	5	11	---	---	---	---	A	152830186	C	A	152830186	1	1	192	0	1	0	0	0	0	0	0	0	2555	680	24	1		1	CACNB4	2	152830186	Intron	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	3023288	152830186	90369187	19	8340										
SPEG	10290	broad.mit.edu	37	chr2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggtcagtgctgttaacacccAtggccaggcccactgctcag	11	14	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.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		Somatic				SPEG_ENST00000485813.1_3'UTR	p.H1142R	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	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	7	35	---	---	---	---	G	220333704	A	G	220333704	3	3	192	1	0	0	0	0	1	0	0	0	15035	217	8	2	3483	2	SPEG	2	220333704	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	67503518	220333704	22865669	20	8341										
AP1S3	130340	broad.mit.edu	37	chr2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctttatcagggagagtgatgTaccatttctgtagccgtaat	10	7	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.chr2:224642531T>A	ENST00000446015.2	-	2	92	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000443700.1_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		Somatic				AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F	p.Y20F			WXS	Illumina GAIIx	Phase_I	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	10	11	---	---	---	---	A	224642531	T	A	224642531	3	1	192	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	21	8342										
GPR55	9290	broad.mit.edu	37	chr2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tggagcagcagaagcccatgAtgcccatgggaaggaggaag	16	8	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.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		Somatic				GPR55_ENST00000392039.2_Missense_Mutation_p.I196T	p.I196T	NM_005683.3	NP_005674.2	WXS	Illumina GAIIx	Phase_I	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	34	55	---	---	---	---	G	231775091	A	G	231775091	3	3	192	1	0	0	0	0	1	0	0	0	6699	333	12	2	376	2	GPR55	2	231775091	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	7132560	231775091	11424282	22	8343										
TTLL3	26140	broad.mit.edu	37	chr3	9855030	9855030	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atggaacacatgctctgatgGtgagggccctgggggccaag	16	9	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.chr3:9855030G>A	ENST00000547186.1	+	4	531		c.e4+1		TTLL3_ENST00000397241.1_Splice_Site|TTLL3_ENST00000426895.4_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|RP11-266J6.2_ENST00000602768.1_RNA	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	7	---	---	---	---	A	9855030	G	A	9855030	5	1	192	1	0	0	0	0	0	0	1	0	16725	1275	44	2	326	2	TTLL3	3	9855030	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		9855030	188167400	23	8344										
DALRD3	55152	broad.mit.edu	37	chr3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tggagccccggggctgtgcaGtccagcactgctgtccggct	15	14	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_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000496568.1_5'Flank	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		Somatic				DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E	p.D300E			WXS	Illumina GAIIx	Phase_I	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	19	41	---	---	---	---	T	49053448	G	T	49053448	3	4	192	1	0	0	0	0	1	0	0	0	4229	1020	36	3	242	3	DALRD3	3	49053448	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	39198418	49053448	148968982	24	8345										
ATR	545	broad.mit.edu	37	chr3	142204017	142204017	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	actatataccggatgagatcAccttgcttttccattttgtt	6	9	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.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			Somatic				ATR_ENST00000383101.3_Silent_p.G1998G	p.G2062G	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	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	5	57	---	---	---	---	T	142204017	A	T	142204017	2	4	192	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	25	8346										
MME	4311	broad.mit.edu	37	chr3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	taggacacgaaatcacccatGgcttcgatgacaatggtaaa	9	9	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.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-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|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		Somatic				MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G589C|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000492661.1_Missense_Mutation_p.G589C	p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	WXS	Illumina GAIIx	Phase_I	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	19	75	---	---	---	---	T	154884795	G	T	154884795	3	4	192	1	0	0	0	0	1	0	0	0	9645	1348	47	1	1831	1	MME	3	154884795	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12680778	154884795	43137635	26	8347										
SERPINI1	5274	broad.mit.edu	37	chr3	167525032	167525032	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tctccctatgtgttctccagGttcacagtggaacaggaaat	9	10	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.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.(880-882)agG>agT		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			Somatic				SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Splice_Site_p.R294S	p.R294S	NM_005025.4	NP_005016.1	WXS	Illumina GAIIx	Phase_I	Q99574	NEUS_HUMAN			6	1313	+			294					A8K217|D3DNP1|Q6AHZ4	Splice_Site	SNP	ENST00000295777.5	37	c.882G>T	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	5	35	---	---	---	---	T	167525032	G	T	167525032	5	4	192	1	0	0	0	0	0	0	1	0	14118	1275	44	3	900	3	SERPINI1	3	167525032	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12640237	167525032	30497398	27	8348										
ZNF721	170960	broad.mit.edu	37	chr4	436020	436020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gagtttatctccagtatgaaTtttcttatattcgttcaggt	7	6	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.chr4:436020T>C	ENST00000338977.5	-	2	2248	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			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		Somatic				ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000506646.1_Intron	p.I734V			WXS	Illumina GAIIx	Phase_I					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	9	11	---	---	---	---	C	436020	T	C	436020	3	2	192	1	0	0	0	0	1	0	0	0	18119	1493	52	2	539	2	ZNF721	4	436020	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		436020	190718256	28	8349										
ZNF518B	85460	broad.mit.edu	37	chr4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgaaggatccttgagacagcGgctaggttcagcttgaattt	12	7	1	3	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		Somatic					p.R909C	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	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	20	51	---	---	---	---	A	10445228	G	A	10445228	3	1	192	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	29	8350										
AFF1	4299	broad.mit.edu	37	chr4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	acaatccaaagatggcgcagCcaagaactgaaccaatgcca	8	12	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.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		Somatic				AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.P145T	p.P138T	NM_005935.2	NP_005926.1	WXS	Illumina GAIIx	Phase_I	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	15	33	---	---	---	---	A	87968120	C	A	87968120	3	1	192	1	0	0	0	0	1	0	0	0	356	739	26	3	464	3	AFF1	4	87968120	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	77522892	87968120	103186156	30	8351										
ODZ3	55714	broad.mit.edu	37	chr4	183714866	183714866	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggcctgtatgacccactcacCaaattaatccactttggaga	7	12	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.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			Somatic				TENM3_ENST00000406950.2_Silent_p.T2347T	p.T2347T			WXS	Illumina GAIIx	Phase_I					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	21	33	---	---	---	---	A	183714866	C	A	183714866	2	1	192	1	0	0	0	0	0	0	0	1	10836	581	21	1		1	ODZ3	4	183714866	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	95746746	183714866	7439410	31	8352										
STOX2	56977	broad.mit.edu	37	chr4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tcagtgcacctctccgcaacCcgggaccatcacgccctctg	8	19	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.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		Somatic				STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	p.P175H	NM_020225.1	NP_064610.1	WXS	Illumina GAIIx	Phase_I	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	27	57	---	---	---	---	A	184930515	C	A	184930515	3	1	192	1	0	0	0	0	1	0	0	0	15319	623	22	1	534	1	STOX2	4	184930515	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1215649	184930515	6223761	32	8353										
PRR16	51334	broad.mit.edu	37	chr5	120022392	120022392	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atcttgaggaagtcaaccacTacaaccgtgtgatgtatgcc	9	10	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.chr5:120022392T>C	ENST00000407149.2	+	2	1112	c.903T>C	c.(901-903)acT>acC	p.T301T	PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000379551.2_Silent_p.T278T|PRR16_ENST00000446965.1_Silent_p.T231T			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			Somatic				PRR16_ENST00000407149.2_Silent_p.T301T|PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T	p.T278T	NM_016644.1	NP_057728.1	WXS	Illumina GAIIx	Phase_I	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	18	19	---	---	---	---	C	120022392	T	C	120022392	2	2	192	1	0	0	0	0	0	0	0	1	12589	1509	53	2		2	PRR16	5	120022392	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		120022392	60892868	33	8354										
PCDHGA8	9708	broad.mit.edu	37	chr5	140773100	140773100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gatacaaatgacaatgccccGgtttttcctcacccgattta	6	12	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.chr5:140773100G>A	ENST00000398604.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_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	9708							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			Somatic				PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P240P	NM_032088.1	NP_114477.1	WXS	Illumina GAIIx	Phase_I			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	26	64	---	---	---	---	A	140773100	G	A	140773100	2	1	192	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	20750708	140773100	40142160	34	8355										
SPRY4	81848	broad.mit.edu	37	chr5	141694233	141694233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttgtccagctcgggtgggacCgccgggcccttgaggtccag	16	13	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.chr5:141694233C>T	ENST00000434127.2	-	2	684	c.441G>A	c.(439-441)gcG>gcA	p.A147A	SPRY4_ENST00000344120.4_Silent_p.A170A|SPRY4_ENST00000503582.1_5'Flank	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			Somatic				SPRY4_ENST00000434127.2_Silent_p.A147A	p.A170A	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	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	6	86	---	---	---	---	T	141694233	C	T	141694233	2	4	192	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	35	8356										
TTC1	7265	broad.mit.edu	37	chr5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctcatttgaggaggagccagGagcggacaaggttgagaaca	15	7	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.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		Somatic				TTC1_ENST00000522793.1_Missense_Mutation_p.G75V	p.G75V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	T	159437759	G	T	159437759	3	4	192	1	0	0	0	0	1	0	0	0	16675	1174	41	3	226	3	TTC1	5	159437759	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	17743526	159437759	21477501	36	8357										
C5orf45	51149	broad.mit.edu	37	chr5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	acccagatgtgacggggtgtGtggcccgaggaagctggaca	17	9	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.chr5:179264557G>A	ENST00000292586.6	-	7	956	c.866C>T	c.(865-867)aCa>aTa	p.T289I	C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I|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		Somatic				C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I	p.T289I	NM_016175.3	NP_057259.2	WXS	Illumina GAIIx	Phase_I	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	34	66	---	---	---	---	A	179264557	G	A	179264557	3	1	192	1	0	0	0	0	1	0	0	0	2304	1377	48	2	169	2	C5orf45	5	179264557	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19826798	179264557	1650703	37	8358										
RNF8	9025	broad.mit.edu	37	chr6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aaaacatgaagccgttatgaAtgtgaaaaagcagacccaaa	8	7	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.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		Somatic				RNF8_ENST00000469731.1_Missense_Mutation_p.N272S|RNF8_ENST00000479516.1_3'UTR	p.N272S	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	WXS	Illumina GAIIx	Phase_I	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	11	30	---	---	---	---	G	37336834	A	G	37336834	3	3	192	1	0	0	0	0	1	0	0	0	13500	101	4	2	825	2	RNF8	6	37336834	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		37336834	133778233	38	8359										
MYO6	4646	broad.mit.edu	37	chr6	76599811	76599811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggaacaaatccagaaagaatAtgatgcactggttaaaagct	9	6	0	3	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_ENST00000369975.1_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369981.3_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		Somatic				MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C	p.Y899C			WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	G	76599811	A	G	76599811	3	3	192	1	0	0	0	0	1	0	0	0	10081	449	16	2	2794	2	MYO6	6	76599811	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	39262977	76599811	94515256	39	8360										
KIAA1244	57221	broad.mit.edu	37	chr6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgcccttgctcagcgtccagCctgtcagcaacgcagattgg	11	14	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.chr6:138655654C>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		Somatic					p.P1891S	NM_020340.4	NP_065073.3	WXS	Illumina GAIIx	Phase_I	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	9	13	---	---	---	---	T	138655654	C	T	138655654	3	4	192	1	0	0	0	0	1	0	0	0	8217	739	26	2	5801	2	KIAA1244	6	138655654	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	62055843	138655654	32459413	40	8361										
ZDHHC14	79683	broad.mit.edu	37	chr6	157803172	157803172	+	Frame_Shift_Del	DEL	G	G	-													0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	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)tggfs		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		Somatic				ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs	p.W40fs			WXS	Illumina GAIIx	Phase_I	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	192	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	41	8362										
DYNLT1	6993	broad.mit.edu	37	chr6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tggtcttattctcccatcgcAcagtgcagctccctgcggga	10	14	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.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		Somatic				DYNLT1_ENST00000367088.1_3'UTR	p.V95G	NM_006519.2	NP_006510.1	WXS	Illumina GAIIx	Phase_I	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	3	17	---	---	---	---	C	159057917	A	C	159057917	3	2	192	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	42	8363										
PSMG3	84262	broad.mit.edu	37	chr7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atcctgccccagaaggacttTtgtggtgagcacaggcttgc	12	11	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.chr7:1608783T>C	ENST00000288607.2	-	1	846	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3-AS1_ENST00000437621.2_lincRNA|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	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		Somatic				PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	p.K65E	NM_032302.3	NP_115678.1	WXS	Illumina GAIIx	Phase_I	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	19	24	---	---	---	---	C	1608783	T	C	1608783	3	2	192	1	0	0	0	0	1	0	0	0	12713	1850	64	2	183	2	PSMG3	7	1608783	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		1608783	157529880	43	8364										
AVL9	23080	broad.mit.edu	37	chr7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gaatagttccttgggaggtgCttcattagaaggatcccaag	12	7	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.chr7:32591878C>T	ENST00000318709.4	+	6	721	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_ENST00000404479.1_Missense_Mutation_p.A167V|AVL9_ENST00000409301.1_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		Somatic				AVL9_ENST00000404479.1_Missense_Mutation_p.A167V|AVL9_ENST00000409301.1_Missense_Mutation_p.A167V	p.A167V	NM_015060.1	NP_055875.1	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	T	32591878	C	T	32591878	3	4	192	1	0	0	0	0	1	0	0	0	1228	797	28	2	522	2	AVL9	7	32591878	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	30983095	32591878	126546785	44	8365										
ABCA13	154664	broad.mit.edu	37	chr7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttttttcccatcagatggatCtcaataagaccgaggaggta	9	8	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.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		Somatic					p.L159I	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	A	48266865	C	A	48266865	3	1	192	1	0	0	0	0	1	0	0	0	31	913	32	3	326	3	ABCA13	7	48266865	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	15674987	48266865	110871798	45	8366										
TECPR1	25851	broad.mit.edu	37	chr7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gggctcgctcacgaagatgtCccccttgcaggtgatggacc	13	13	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.chr7:97860340C>T	ENST00000447648.2	-	15	2514	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N			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		Somatic				TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N	p.D739N			WXS	Illumina GAIIx	Phase_I	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	6	36	---	---	---	---	T	97860340	C	T	97860340	3	4	192	1	0	0	0	0	1	0	0	0	15740	855	30	2	1330	2	TECPR1	7	97860340	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	49593475	97860340	61278323	46	8367										
RELN	5649	broad.mit.edu	37	chr7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cttgtgtgaagtcctttggcTggtgctgggcgatgacatgc	15	8	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.chr7:103124148T>A	ENST00000428762.1	-	62	10292	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L|CTB-107G13.1_ENST00000422488.1_RNA	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)	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.(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		Somatic				CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L	p.Q3378L	NM_005045.3	NP_005036.2	WXS	Illumina GAIIx	Phase_I	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	42	154	---	---	---	---	A	103124148	T	A	103124148	3	1	192	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	47	8368										
SYPL1	6856	broad.mit.edu	37	chr7	105739618	105739619	+	Frame_Shift_Ins	INS	-	-	T													0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	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)tttfs		synaptophysin-like 1																																				SO:0001589	frameshift_variant	6856				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		Somatic				SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.F60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.F78fs	p.F60fs	NM_182715.2	NP_874384.1	WXS	Illumina GAIIx	Phase_I	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	192	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	48	8369										
CTTNBP2	83992	broad.mit.edu	37	chr7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggatttactgagagtatccaCatcaaactcttttttctgta	6	8	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.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		Somatic					p.V33L	NM_033427.2	NP_219499.1	WXS	Illumina GAIIx	Phase_I	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	3	19	---	---	---	---	G	117501355	C	G	117501355	3	3	192	1	0	0	0	0	1	0	0	0	4045	478	17	4	4982	4	CTTNBP2	7	117501355	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	11761737	117501355	41637308	49	8370										
TTC26	79989	broad.mit.edu	37	chr7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctgctactacaagttggattActatgatgtgtctcaagaag	9	7	1	2	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_ENST00000495038.1_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C			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		Somatic				TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron	p.Y200C			WXS	Illumina GAIIx	Phase_I	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	4	73	---	---	---	---	G	138833005	A	G	138833005	3	3	192	1	0	0	0	0	1	0	0	0	16691	391	14	2	625	2	TTC26	7	138833005	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	21331650	138833005	20305658	50	8371										
RALYL	138046	broad.mit.edu	37	chr8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	acagaccaaaacctggaaacAagaggcccctttctgcactt	7	13	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.chr8:85686864A>G	ENST00000521268.1	+	3	1412	c.307A>G	c.(307-309)Aag>Gag	p.K103E	RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000521376.1_Missense_Mutation_p.K30E	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		Somatic				RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E|RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E	p.K103E	NM_173848.5	NP_776247.3	WXS	Illumina GAIIx	Phase_I	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	6	11	---	---	---	---	G	85686864	A	G	85686864	3	3	192	1	0	0	0	0	1	0	0	0	13020	131	5	2	356	2	RALYL	8	85686864	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		85686864	60677158	51	8372										
CA2	760	broad.mit.edu	37	chr8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atggacaaggttcagagcatActgtggataaaaagaaatat	10	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.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		Somatic					p.T108S	NM_000067.2	NP_000058.1	WXS	Illumina GAIIx	Phase_I	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	19	33	---	---	---	---	T	86386011	A	T	86386011	3	4	192	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	52	8373										
SNX31	169166	broad.mit.edu	37	chr8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cttctttctggaaagcttctAatttctgcctctgtgcctgt	7	11	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.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*		Somatic				SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	p.L247*	NM_152628.3	NP_689841.3	WXS	Illumina GAIIx	Phase_I	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	17	103	---	---	---	---	T	101612611	A	T	101612611	4	4	192	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	53	8374										
KLHL38	340359	broad.mit.edu	37	chr8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggcctcaaacagcttggggaActgtagcatggaggcggcct	15	10	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.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		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.F116L	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	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	9	33	---	---	---	---	G	124664821	A	G	124664821	3	3	192	1	0	0	0	0	1	0	0	0	8390	43	2	2	1411	2	KLHL38	8	124664821	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	23052210	124664821	21699201	54	8375										
FAM154A	158297	broad.mit.edu	37	chr9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cctctgtgctctcccaccttTataagtaggcaaacactcca	5	15	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.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		Somatic				FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	p.K140E	NM_153707.2	NP_714918.2	WXS	Illumina GAIIx	Phase_I	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	8	30	---	---	---	---	C	18941638	T	C	18941638	3	2	192	1	0	0	0	0	1	0	0	0	5463	1763	61	2	1014	2	FAM154A	9	18941638	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		18941638	122271793	55	8376										
TEK	7010	broad.mit.edu	37	chr9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggccatcgagtcactgaattAcagtgtgtacacaaccaaca	8	11	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.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		Somatic				TEK_ENST00000406359.4_Missense_Mutation_p.Y969C|TEK_ENST00000519097.1_Missense_Mutation_p.Y864C	p.Y1012C	NM_000459.3	NP_000450	WXS	Illumina GAIIx	Phase_I	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	16	31	---	---	---	---	G	27217729	A	G	27217729	3	3	192	1	0	0	0	0	1	0	0	0	15748	391	14	2	3109	2	TEK	9	27217729	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	8276091	27217729	113995702	56	8377										
FOXB2	442425	broad.mit.edu	37	chr9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cgcctccgcacctcccgtcaCagcccccgcagcaaccgccc	7	25	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		Somatic					p.Q197E	NM_001013735.1	NP_001013757.1	WXS	Illumina GAIIx	Phase_I	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	14	26	---	---	---	---	G	79635159	C	G	79635159	3	3	192	1	0	0	0	0	1	0	0	0	5993	479	17	4	591	4	FOXB2	9	79635159	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	52417430	79635159	61578272	57	8378										
MYO3A	53904	broad.mit.edu	37	chr10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggaggaggagagagagccagCagccaacccctacgacttca	13	12	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.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		Somatic				MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	p.A1593G	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	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	10	24	---	---	---	---	G	26500819	C	G	26500819	3	3	192	1	0	0	0	0	1	0	0	0	10076	710	25	4	4908	4	MYO3A	10	26500819	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		26500819	109033928	58	8379										
DDX50	79009	broad.mit.edu	37	chr10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gactcaaaaggctgcaactaCtgtggaagtaagtagctttc	10	8	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.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		Somatic					p.T361N	NM_024045.1	NP_076950.1	WXS	Illumina GAIIx	Phase_I	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	13	14	---	---	---	---	A	70673953	C	A	70673953	3	1	192	1	0	0	0	0	1	0	0	0	4368	565	20	3	1108	3	DDX50	10	70673953	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	44173134	70673953	64860794	59	8380										
ANO3	63982	broad.mit.edu	37	chr11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cgcatacctgattccagacgTaccaaagggtctacatgacc	8	13	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.chr11:26681858T>C	ENST00000256737.3	+	27	3665	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_ENST00000537978.1_Missense_Mutation_p.V922A|ANO3_ENST00000525139.1_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		Somatic				ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A|ANO3_ENST00000537978.1_Missense_Mutation_p.V922A	p.V938A	NM_031418.2	NP_113606.2	WXS	Illumina GAIIx	Phase_I	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	26	49	---	---	---	---	C	26681858	T	C	26681858	3	2	192	1	0	0	0	0	1	0	0	0	698	1638	57	2	2919	2	ANO3	11	26681858	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		26681858	108324658	60	8381										
LRP4	4038	broad.mit.edu	37	chr11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gtccatgaggcctggcaggtTggacctcacgaggatgacat	14	10	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.chr11:46897058T>G	ENST00000378623.1	-	27	4116	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H	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	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		Somatic					p.N1292H	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	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	15	30	---	---	---	---	G	46897058	T	G	46897058	3	3	192	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	61	8382										
SSRP1	6749	broad.mit.edu	37	chr11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	acaaagaacatctggcgctgGtccttgtggggtaacaaaaa	11	8	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.chr11:57100120G>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		Somatic					p.D249E	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	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	11	18	---	---	---	---	T	57100120	G	T	57100120	3	4	192	1	0	0	0	0	1	0	0	0	15193	1252	44	3	1430	3	SSRP1	11	57100120	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	10203062	57100120	77906396	62	8383										
KDM2A	22992	broad.mit.edu	37	chr11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggacatccattgtgcccaagCtgcaggccatcacggcctcc	10	16	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.chr11:67017956C>A	ENST00000529006.2	+	17	2901	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000398645.2_Intron	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		Somatic				KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	p.L819M	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	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	12	52	---	---	---	---	A	67017956	C	A	67017956	3	1	192	1	0	0	0	0	1	0	0	0	8124	796	28	3	2517	3	KDM2A	11	67017956	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9917836	67017956	67988560	63	8384										
ME3	10873	broad.mit.edu	37	chr11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cttgacaatgagccctttagAgtccaccatccagatctttc	6	13	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.chr11:86160951A>T	ENST00000393324.3	-	9	1364	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	ME3_ENST00000543262.1_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA|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		Somatic				ME3_ENST00000393324.3_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.S371T	p.S371T	NM_001161586.1	NP_001155058.1	WXS	Illumina GAIIx	Phase_I	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	26	62	---	---	---	---	T	86160951	A	T	86160951	3	4	192	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	64	8385										
FAT3	120114	broad.mit.edu	37	chr11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cctggctaaggaaggaaagtGgttgaatgagtacaagatta	13	4	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.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)	Somatic				FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*	p.W320*			WXS	Illumina GAIIx	Phase_I	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	4	14	---	---	---	---	A	92086237	G	A	92086237	4	1	192	1	0	0	0	0	0	1	0	0	5691	1357	47	2	961	2	FAT3	11	92086237	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5925286	92086237	42920279	65	8386										
FOLR4	390243	broad.mit.edu	37	chr11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctccccaaacctggggccctGgatccagccagtgggaagcc	12	16	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.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*		Somatic					p.W106*	NM_001199206.1	NP_001186135.1	WXS	Illumina GAIIx	Phase_I	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	13	29	---	---	---	---	A	94039857	G	A	94039857	4	1	192	1	0	0	0	0	0	1	0	0	5984	1357	47	2	323	2	FOLR4	11	94039857	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1953620	94039857	40966659	66	8387										
ATM	472	broad.mit.edu	37	chr11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttcttgttaacaatgaagatGgtgctcataaaagatacagg	9	5	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.chr11:108214036G>A	ENST00000452508.2	+	58	8545	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2786S			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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	p.G2786S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	19	59	---	---	---	---	A	108214036	G	A	108214036	3	1	192	1	0	0	0	0	1	0	0	0	1109	1348	47	2	8578	2	ATM	11	108214036	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	14174179	108214036	26792480	67	8388										
THYN1	29087	broad.mit.edu	37	chr11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tcttacctggtagttacgaaCaccatcccagcatgttgtct	7	12	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.chr11:134120183C>T	ENST00000341541.3	-	3	738	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_ENST00000525677.1_5'Flank|THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	28	---	---	---	---	T	134120183	C	T	134120183	3	4	192	1	0	0	0	0	1	0	0	0	15883	478	17	2	420	2	THYN1	11	134120183	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	25906147	134120183	886333	68	8389										
WNK1	65125	broad.mit.edu	37	chr12	863369	863369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gctggagaccaaggccgtggGaatgtctaacgatggccgct	15	10	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.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_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000537687.1_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_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		Somatic				WNK1_ENST00000315939.6_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E|WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E	p.G213E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	WXS	Illumina GAIIx	Phase_I	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	6	54	---	---	---	---	A	863369	G	A	863369	3	1	192	1	0	0	0	0	1	0	0	0	17374	1174	41	2	640	2	WNK1	12	863369	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		863369	132988526	69	8390										
PZP	5858	broad.mit.edu	37	chr12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aagtccagcatcttcggacaGgcagaaggcccctgccttcc	10	15	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.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		Somatic				PZP_ENST00000381997.2_Missense_Mutation_p.L647M|PZP_ENST00000539983.1_5'UTR	p.L778M	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					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	20	58	---	---	---	---	T	9317890	G	T	9317890	3	4	192	1	0	0	0	0	1	0	0	0	12869	991	35	1	2188	1	PZP	12	9317890	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8454521	9317890	124534005	70	8391										
SLCO1B1	10599	broad.mit.edu	37	chr12	21392117	21392117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggggcagatagtgaaacacaTtgttaaggggagaaaaaaag	14	3	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.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			Somatic					p.H690H	NM_006446.4	NP_006437.3	WXS	Illumina GAIIx	Phase_I	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	23	49	---	---	---	---	C	21392117	T	C	21392117	2	2	192	1	0	0	0	0	0	0	0	1	14723	1490	52	2		2	SLCO1B1	12	21392117	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	12074227	21392117	112459778	71	8392										
DNM1L	10059	broad.mit.edu	37	chr12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aaaacatccagactttgctgAtgcttgtgggctaatgaaca	9	8	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.chr12:32886710A>T	ENST00000549701.1	+	13	1582	c.1508A>T	c.(1507-1509)gAt>gTt	p.D503V	DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000452533.2_Missense_Mutation_p.D503V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V			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		Somatic				DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V	p.D503V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina GAIIx	Phase_I	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	13	91	---	---	---	---	T	32886710	A	T	32886710	3	4	192	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	72	8393										
RBMS2	5939	broad.mit.edu	37	chr12	56915827	56915827	+	Frame_Shift_Del	DEL	C	C	-													0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	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_ENST00000550726.1_5'UTR|RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000542360.1_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)tccfs		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		Somatic				RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR	p.S7fs	NM_002898.3	NP_002889.1	WXS	Illumina GAIIx	Phase_I	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	192	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	73	8394										
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tttttgcagatttgtatcacTagctgatttaaaaagcaaag	7	5	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.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		Somatic				UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	p.S953C	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	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	10	8	---	---	---	---	A	100452198	T	A	100452198	3	1	192	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	74	8395										
BRCA2	675	broad.mit.edu	37	chr13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttaaagtaaatagctgcaaaGaccacattggaaagtcaatg	8	6	1	1	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)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H	p.D281H	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	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	12	12	---	---	---	---	C	32906456	G	C	32906456	3	2	192	1	0	0	0	0	1	0	0	0	1499	942	33	4	875	4	BRCA2	13	32906456	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		32906456	82263422	75	8396										
TRPC4	7223	broad.mit.edu	37	chr13	38213401	38213401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	caaggacaacttacttggtaTtggtgatgtcttctcaagtt	9	7	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.chr13:38213401T>C	ENST00000379705.3	-	9	2972	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000355779.2_Silent_p.Q705Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q			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			Somatic				TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Silent_p.Q705Q	p.Q705Q			WXS	Illumina GAIIx	Phase_I	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	22	52	---	---	---	---	C	38213401	T	C	38213401	2	2	192	1	0	0	0	0	0	0	0	1	16577	1490	52	2		2	TRPC4	13	38213401	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	5306945	38213401	76956477	76	8397										
RPS6KA5	9252	broad.mit.edu	37	chr14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctgcagtgtcttggtgggtgTagttttaccgtgagaatgag	15	5	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.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		Somatic				RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	p.T775S	NM_004755.2	NP_004746.2	WXS	Illumina GAIIx	Phase_I	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	28	31	---	---	---	---	A	91338504	T	A	91338504	3	1	192	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	77	8398										
CYFIP1	23191	broad.mit.edu	37	chr15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gctgaagaacatgaagtgcaGtgtgaagaacgaccactcag	12	8	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.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		Somatic				CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	p.S180I	NM_014608.2	NP_055423.1	WXS	Illumina GAIIx	Phase_I	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	16	39	---	---	---	---	T	22929865	G	T	22929865	3	4	192	1	0	0	0	0	1	0	0	0	4137	1029	36	3	557	3	CYFIP1	15	22929865	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		22929865	79601527	78	8399										
ZNF770	54989	broad.mit.edu	37	chr15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agttagttgatgcctctccaGatgaactagttgtctaaagg	10	7	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.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		Somatic					p.L70V	NM_014106.3	NP_054825.2	WXS	Illumina GAIIx	Phase_I	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	6	21	---	---	---	---	C	35275428	G	C	35275428	3	2	192	1	0	0	0	0	1	0	0	0	18140	933	33	4	1871	4	ZNF770	15	35275428	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12345563	35275428	67255964	79	8400										
UACA	55075	broad.mit.edu	37	chr15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttctattcagattggccaatTtttcatttaagctagaaatc	5	7	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.chr15:70959286T>A	ENST00000322954.6	-	16	3922	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|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		Somatic				UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	p.K1246I	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	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	23	36	---	---	---	---	A	70959286	T	A	70959286	3	1	192	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	80	8401										
GRIN2A	2903	broad.mit.edu	37	chr16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cagatagaggtcgtaagtaaActtcacagttctggaaagct	10	7	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.chr16:9934873A>T	ENST00000396573.2	-	7	1726	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000330684.3_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	2903				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		Somatic				GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I	p.F473I	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	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	31	70	---	---	---	---	T	9934873	A	T	9934873	3	4	192	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		9934873	80419880	81	8402										
SRCAP	10847	broad.mit.edu	37	chr16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	caccccagcagcccttcattGctcgccgtcacattgagctg	8	17	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.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		Somatic				SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T	p.A2827T	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	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	22	22	---	---	---	---	A	30749840	G	A	30749840	3	1	192	1	0	0	0	0	1	0	0	0	15134	1319	46	2	8605	2	SRCAP	16	30749840	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	20814967	30749840	59604913	82	8403										
SSH2	85464	broad.mit.edu	37	chr17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ataggctgcctgggtagtagTtatgcgctctggcgacttca	13	9	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.chr17:27999097T>G	ENST00000269033.3	-	8	735	c.584A>C	c.(583-585)aAc>aCc	p.N195T	SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N222T	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		Somatic				SSH2_ENST00000540801.1_Missense_Mutation_p.N222T|RP11-68I3.2_ENST00000581474.1_RNA	p.N195T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	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	18	27	---	---	---	---	G	27999097	T	G	27999097	3	3	192	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	83	8404										
GAS2L2	246176	broad.mit.edu	37	chr17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctctgtgagcggctgatggtCattgtaggctgggtctgtga	16	7	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.chr17:34074193C>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		Somatic				GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	p.M309I	NM_139285.3	NP_644814.1	WXS	Illumina GAIIx	Phase_I	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	52	98	---	---	---	---	T	34074193	C	T	34074193	3	4	192	1	0	0	0	0	1	0	0	0	6247	826	29	2	1723	2	GAS2L2	17	34074193	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	6075096	34074193	47121017	84	8405										
GRB7	2886	broad.mit.edu	37	chr17	37903005	37903005	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cccctttactgtaccccagaGcgaggaggagggccgcctgt	13	14	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.chr17:37903005G>A	ENST00000309156.4	+	15	1711	c.1454G>A	c.(1453-1455)aGc>aAc	p.S485N	GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|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.(1453-1455)aGc>aAc		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			Somatic				GRB7_ENST00000445327.2_Splice_Site_p.S508N|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Splice_Site_p.S485N|GRB7_ENST00000394209.2_Splice_Site_p.S485N|GRB7_ENST00000309185.3_3'UTR	p.S485N	NM_005310.3	NP_005301.2	WXS	Illumina GAIIx	Phase_I	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.1454G>A	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	5	102	---	---	---	---	A	37903005	G	A	37903005	5	1	192	1	0	0	0	0	0	0	1	0	6759	985	34	2	1508	2	GRB7	17	37903005	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	3828812	37903005	43292205	85	8406										
KIAA1267	284058	broad.mit.edu	37	chr17	44128012	44128012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgttgatgctgcctgaaccaCacagtgcgcaggagggattc	13	10	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.chr17:44128012C>T	ENST00000262419.6	-	7	2377	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000572904.1_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		Somatic				KANSL1_ENST00000432791.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000575318.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000572904.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000574590.1_Missense_Mutation_p.C636Y|KANSL1_ENST00000262419.6_Missense_Mutation_p.C636Y				WXS	Illumina GAIIx	Phase_I	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	4	19	---	---	---	---	T	44128012	C	T	44128012	3	4	192	1	0	0	0	0	1	0	0	0	8219	478	17	2	1446	2	KIAA1267	17	44128012	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	6225007	44128012	37067198	86	8407										
ABCC3	8714	broad.mit.edu	37	chr17	48741195	48741195	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggggtgaagtttcgtactggGatcatgggtgtcatctacag	15	6	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.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			Somatic				ABCC3_ENST00000427699.1_Silent_p.G384G	p.G384G	NM_003786.3	NP_003777.2	WXS	Illumina GAIIx	Phase_I	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	18	33	---	---	---	---	T	48741195	G	T	48741195	2	4	192	1	0	0	0	0	0	0	0	1	54	1161	41	3		3	ABCC3	17	48741195	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	4613183	48741195	32454015	87	8408										
APPBP2	10513	broad.mit.edu	37	chr17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agcatctgtcactgaatattGccgatctcgcaaccggttcc	8	13	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.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*		Somatic					p.Q550*	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	WXS	Illumina GAIIx	Phase_I	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	42	85	---	---	---	---	A	58525052	G	A	58525052	4	1	192	1	0	0	0	0	0	1	0	0	816	1328	46	2	113	2	APPBP2	17	58525052	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	9783857	58525052	22670158	88	8409										
PSMC5	5705	broad.mit.edu	37	chr17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggcccggctggacattttgaAgattcattctcggaagatga	12	8	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|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M|FTSJ3_ENST00000580295.1_5'Flank	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		Somatic				PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M	p.K330M	NM_002805.5	NP_002796.4	WXS	Illumina GAIIx	Phase_I	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	30	65	---	---	---	---	T	61908885	A	T	61908885	3	4	192	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	89	8410										
BPTF	2186	broad.mit.edu	37	chr17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tctttaccccattggcaacaAcagccaccacagccagcacc	5	18	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.chr17:65940437A>G	ENST00000321892.4	+	22	7088	c.7027A>G	c.(7027-7029)Aca>Gca	p.T2343A	BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000577770.1_3'UTR			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		Somatic				BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A|BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A	p.T2343A			WXS	Illumina GAIIx	Phase_I	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	31	40	---	---	---	---	G	65940437	A	G	65940437	3	3	192	1	0	0	0	0	1	0	0	0	1495	43	2	2	7113	2	BPTF	17	65940437	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	4031552	65940437	15254773	90	8411										
EMILIN2	84034	broad.mit.edu	37	chr18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aagcatgtcagcagcctgtgGaactgtgtcaggcagatgaa	13	8	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.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		Somatic					p.W738C	NM_032048.2	NP_114437.2	WXS	Illumina GAIIx	Phase_I	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	11	13	---	---	---	---	C	2892339	G	C	2892339	3	2	192	1	0	0	0	0	1	0	0	0	5094	1183	41	4	2228	4	EMILIN2	18	2892339	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		2892339	75184909	91	8412										
CEP76	79959	broad.mit.edu	37	chr18	12699203	12699203	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ccgtgttggatcaatattagCtgtaaagtgtagcaatatat	9	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.chr18:12699203C>A	ENST00000262127.2	-	4	521		c.e4-1		CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_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			Somatic				PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Intron|CEP76_ENST00000586887.1_Intron		NM_024899.2	NP_079175.2	WXS	Illumina GAIIx	Phase_I	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	16	18	---	---	---	---	A	12699203	C	A	12699203	5	1	192	1	0	0	0	0	0	0	1	0	3261	811	28	3	1720	3	CEP76	18	12699203	Splice_Site	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9806864	12699203	65378045	92	8413										
ADAMTS10	81794	broad.mit.edu	37	chr19	8670020	8670020	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ccctcccgtgtccagtactcCacggagacgtgccctgccag	10	18	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.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			Somatic				ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR	p.V104V			WXS	Illumina GAIIx	Phase_I	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	5	27	---	---	---	---	A	8670020	C	A	8670020	2	1	192	1	0	0	0	0	0	0	0	1	256	581	21	1		1	ADAMTS10	19	8670020	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		8670020	50458963	93	8414										
EMR2	30817	broad.mit.edu	37	chr19	14887554	14887554	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ttaccgagaaagacgagaaaGacgcggcctcccatggttcc	11	12	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.chr19:14887554G>C	ENST00000315576.3	-	2	466	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR	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			Somatic				EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V	p.V5V	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	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	4	13	---	---	---	---	C	14887554	G	C	14887554	2	2	192	1	0	0	0	0	0	0	0	1	5105	929	33	4		4	EMR2	19	14887554	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	6217534	14887554	44241429	94	8415										
CHERP	84167	broad.mit.edu	37	chr19	16630018	16630018	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cgggcgatgaaggagtagctCttgttcctgcggtagttctc	14	9	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.chr19:16630018C>G	ENST00000221671.3	+	9	2170				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N|CTD-3222D19.2_ENST00000409035.1_3'UTR|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			Somatic				CTD-3222D19.2_ENST00000409035.1_3'UTR|C19orf44_ENST00000221671.3_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.K912N	p.K901N	NM_006387.5	NP_006378.3	WXS	Illumina GAIIx	Phase_I	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	17	21	---	---	---	---	G	16630018	C	G	16630018	1	3	192	0	1	0	0	0	0	0	0	0	3336	912	32	4		4	CHERP	19	16630018	Intron	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1742464	16630018	42498965	95	8416										
ABHD8	79575	broad.mit.edu	37	chr19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggagtacgaaggatgacacgTtgaaagcgttgccctccttt	12	9	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.chr19:17405251T>G	ENST00000247706.3	-	4	1234	c.995A>C	c.(994-996)aAc>aCc	p.N332T	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	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		Somatic				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.N332T	NM_024527.4	NP_078803.4	WXS	Illumina GAIIx	Phase_I	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	38	85	---	---	---	---	G	17405251	T	G	17405251	3	3	192	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	96	8417										
COMP	1311	broad.mit.edu	37	chr19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cctagggcagttgtcggcctGgttgcggatccctgcagaaa	14	11	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.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		Somatic				COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E	p.Q350E			WXS	Illumina GAIIx	Phase_I	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	17	26	---	---	---	---	C	18897449	G	C	18897449	3	2	192	1	0	0	0	0	1	0	0	0	3724	1357	47	4	1162	4	COMP	19	18897449	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1492198	18897449	40231534	97	8418										
CCDC9	26093	broad.mit.edu	37	chr19	47773663	47773663	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	cacccgttatctttcccccaGgttcaaggatggcccagtcc	8	16	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.chr19:47773663G>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			Somatic						NM_015603.2	NP_056418.1	WXS	Illumina GAIIx	Phase_I	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	8	24	---	---	---	---	A	47773663	G	A	47773663	5	1	192	1	0	0	0	0	0	0	1	0	2867	1014	35	2	932	2	CCDC9	19	47773663	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	28876214	47773663	11355320	98	8419										
PRMT1	3276	broad.mit.edu	37	chr19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctactgcctcttctacgagtCcatgctcaacaccgtgctct	6	16	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.chr19:50187286C>G	ENST00000391851.4	+	5	590	c.461C>G	c.(460-462)tCc>tGc	p.S154C	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.S126C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C	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	3276					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		Somatic				PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C|PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C	p.S126C			WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	G	50187286	C	G	50187286	3	3	192	1	0	0	0	0	1	0	0	0	12535	855	30	4	537	4	PRMT1	19	50187286	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	2413623	50187286	8941697	99	8420										
SIGLEC9	27180	broad.mit.edu	37	chr19	51628471	51628471	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gtggccacaaacaacccagcTcgggcagtgtgggaggagac	15	11	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.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			Somatic				SIGLEC9_ENST00000250360.3_Silent_p.A80A	p.A80A	NM_001198558.1	NP_001185487.1	WXS	Illumina GAIIx	Phase_I	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	28	72	---	---	---	---	G	51628471	T	G	51628471	2	3	192	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	100	8421										
ZFP28	140612	broad.mit.edu	37	chr19	57065052	57065052	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgttttcttggtatctttcaGgccagcgatctgtacatgag	10	8	4	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.chr19:57065052G>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			Somatic				AC007228.11_ENST00000596587.1_RNA		NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	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	14	35	---	---	---	---	C	57065052	G	C	57065052	5	2	192	1	0	0	0	0	0	0	1	0	17639	1014	35	4	928	4	ZFP28	19	57065052	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5436581	57065052	2063931	101	8422										
FASTKD5	60493	broad.mit.edu	37	chr20	3128064	3128064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tcaggctttgaattcatatcCttctctgctaaataccacag	5	11	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.chr20:3128064C>T	ENST00000380266.3	-	2	1974	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	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	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			Somatic				UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	p.K551K	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	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	10	35	---	---	---	---	T	3128064	C	T	3128064	2	4	192	1	0	0	0	0	0	0	0	1	5688	680	24	2		2	FASTKD5	20	3128064	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		3128064	59897456	102	8423										
ZSWIM3	140831	broad.mit.edu	37	chr20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agtccaagaaggcttttggaAtctgtggagagagccttacc	12	8	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.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		Somatic				ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	p.I459F	NM_080752.3	NP_542790.2	WXS	Illumina GAIIx	Phase_I	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	14	21	---	---	---	---	T	44506572	A	T	44506572	3	4	192	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	103	8424										
DIDO1	11083	broad.mit.edu	37	chr20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tggagggcttcttttccgacTgcgggactgtggctactttt	13	9	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.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		Somatic				DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	p.Q1236R	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	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	44	110	---	---	---	---	C	61513601	T	C	61513601	3	2	192	1	0	0	0	0	1	0	0	0	4522	1580	55	2	3019	2	DIDO1	20	61513601	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	17007029	61513601	1511919	104	8425										
ZBTB46	140685	broad.mit.edu	37	chr20	62384051	62384051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gcactcaccagcgtgtggcgCttcatgtgctcgcgccgcgt	13	15	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.chr20:62384051C>T	ENST00000245663.4	-	4	1536	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_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			Somatic				ZBTB46_ENST00000302995.2_Silent_p.K462K|ZBTB46_ENST00000395104.1_Silent_p.K462K	p.K462K	NM_025224.3	NP_079500.2	WXS	Illumina GAIIx	Phase_I	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	7	10	---	---	---	---	T	62384051	C	T	62384051	2	4	192	1	0	0	0	0	0	0	0	1	17544	796	28	2		2	ZBTB46	20	62384051	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	870450	62384051	641469	105	8426										
PCP4	5121	broad.mit.edu	37	chr21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	aaggctgggtctcagtcctaGtgggagaaccccctcctagt	12	12	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.chr21:41301036G>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		Somatic				PCP4_ENST00000468717.1_3'UTR	p.*63Y	NM_006198.2	NP_006189.2	WXS	Illumina GAIIx	Phase_I	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	7	27	---	---	---	---	C	41301036	G	C	41301036	4	2	192	1	0	0	0	0	0	0	0	0	11598	1024	36	4	199	4	PCP4	21	41301036	Nonstop_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		41301036	6828859	106	8427										
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ctgcaagcctgtgtgctgtgTgcccgtctgctgtggggatt	15	10	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.chr21:45994012T>G	ENST00000400374.3	+	1	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	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		Somatic				TSPEAR_ENST00000323084.4_Intron	p.V126G	NM_198687.1	NP_941960.1	WXS	Illumina GAIIx	Phase_I	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	34	252	---	---	---	---	G	45994012	T	G	45994012	3	3	192	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	107	8428										
MRPL40	64976	broad.mit.edu	37	chr22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	agagctctgcttctgaagaaGtggtccttgtacaagcagca	11	9	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.chr22:19423224G>T	ENST00000333130.3	+	4	1013	c.360G>T	c.(358-360)aaG>aaT	p.K120N	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR	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		Somatic				MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron	p.K120N	NM_003776.2	NP_003767.2	WXS	Illumina GAIIx	Phase_I	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	59	114	---	---	---	---	T	19423224	G	T	19423224	3	4	192	1	0	0	0	0	1	0	0	0	9804	1020	36	3	374	3	MRPL40	22	19423224	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		19423224	31881342	108	8429										
TRIOBP	11078	broad.mit.edu	37	chr22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	tgcaccccgggcctcctcccCaccacgccaggccccagagc	9	23	0	1	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		Somatic					p.P1125L	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	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	6	138	---	---	---	---	T	38121937	C	T	38121937	3	4	192	1	0	0	0	0	1	0	0	0	16550	594	21	2	3392	2	TRIOBP	22	38121937	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	18698713	38121937	13182629	109	8430										
KAL1	3730	broad.mit.edu	37	chrX	8553409	8553409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	accatcggctgggtcttatgTcagtcagttgaactcgctcg	11	11	3	1	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		Somatic					p.D252G	NM_000216.2	NP_000207.2	WXS	Illumina GAIIx	Phase_I	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	38	7	---	---	---	---	C	8553409	T	C	8553409	3	2	192	1	0	0	0	0	1	0	0	0	7974	1667	58	2	1323	2	KAL1	23	8553409	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		8553409	146717151	110	8431										
BCORL1	63035	broad.mit.edu	37	chrX	129146576	129146576	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	gagcacctctttctgatgagGagtcaacgacaggcgactgc	12	11	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.chrX:129146576G>C	ENST00000218147.7	+	3	306	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.E37Q|BCORL1_ENST00000359304.2_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		Somatic				BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q	p.E37Q	NM_021946.4	NP_068765	WXS	Illumina GAIIx	Phase_I	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	28	23	---	---	---	---	C	129146576	G	C	129146576	3	2	192	1	0	0	0	0	1	0	0	0	1387	1175	41	4	115	4	BCORL1	23	129146576	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	120593167	129146576	26123984	111	8432										
BCORL1	63035	broad.mit.edu	37	chrX	129147472	129147472	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	ggcttgttccagtccaagttGccacttcggttccagctcct	9	14	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.chrX:129147472G>C	ENST00000218147.7	+	4	921	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000540052.1_Missense_Mutation_p.A242P|BCORL1_ENST00000359304.2_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		Somatic				BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P	p.A242P	NM_021946.4	NP_068765	WXS	Illumina GAIIx	Phase_I	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	52	42	---	---	---	---	C	129147472	G	C	129147472	3	2	192	1	0	0	0	0	1	0	0	0	1387	1319	46	4	734	4	BCORL1	23	129147472	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	896	129147472	26123088	112	8433										
SAGE1	55511	broad.mit.edu	37	chrX	134990668	134990668	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0619469026548673	7	1	1.15894706559264	2.02355836849508	0.560370009737098	0.34984520123839	1	0	atcaccatgtccatgaagcaAggatggaaaatggccaacga	10	9	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: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			Somatic				SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R	p.R445R	NM_018666.2	NP_061136.2	WXS	Illumina GAIIx	Phase_I	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	32	19	---	---	---	---	C	134990668	A	C	134990668	2	2	192	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	113	8434										
PTCH2	8643	broad.mit.edu	37	chr1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	taccgacctgcacaaagcgcCgctgccaggcttgtagcact	10	15	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.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		Somatic				PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	p.R357Q	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	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	13	155	---	---	---	---	T	45295299	C	T	45295299	3	4	193	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		45295299	203955322	1	8435										
LRRIQ3	127255	broad.mit.edu	37	chr1	74575077	74575077	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	taataaactaattatacttaCatgtttccaatatgcaagct	3	7	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.chr1:74575077C>A	ENST00000395089.1	-	4	867		c.e4+1		LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000370909.2_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			Somatic				LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site		NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	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	4	6	---	---	---	---	A	74575077	C	A	74575077	5	1	193	1	0	0	0	0	0	0	1	0	9030	492	17	3	1022	3	LRRIQ3	1	74575077	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	29279778	74575077	174675544	2	8436										
PTGS2	5743	broad.mit.edu	37	chr1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	gcacaggaggaagggctctaGtataataggagaggttagag	16	4	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.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	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		Somatic				PTGS2_ENST00000490885.2_5'UTR	p.T135I	NM_000963.2	NP_000954.1	WXS	Illumina GAIIx	Phase_I	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	8	46	---	---	---	---	A	186647446	G	A	186647446	3	1	193	1	0	0	0	0	1	0	0	0	12756	1029	36	2	1438	2	PTGS2	1	186647446	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	112072369	186647446	62603175	3	8437										
HHAT	55733	broad.mit.edu	37	chr1	210522367	210522367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	tacctacttgcctcactaggCttccacttctattccttcta	3	15	3	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.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000545154.1_Intron	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			Somatic				HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G	p.G16G	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	18	30	---	---	---	---	T	210522367	C	T	210522367	2	4	193	1	0	0	0	0	0	0	0	1	7089	784	28	2		2	HHAT	1	210522367	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	23874921	210522367	38728254	4	8438										
CABC1	56997	broad.mit.edu	37	chr1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ggcgggacaagttggaatacTtcgaggagcggcccttcgcc	15	11	0	0	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_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V			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		Somatic				ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR	p.F331V			WXS	Illumina GAIIx	Phase_I	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	10	12	---	---	---	---	G	227170646	T	G	227170646	3	3	193	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	5	8439										
PPM1G	5496	broad.mit.edu	37	chr2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	gatgcaggtcatgttgtcacAccctgtaccatccccagaag	9	13	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.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000323703.6_5'Flank|ZNF513_ENST00000407879.1_5'Flank|PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	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		Somatic				PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	p.C495R	NM_177983.2	NP_817092.1	WXS	Illumina GAIIx	Phase_I	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	4	89	---	---	---	---	G	27604624	A	G	27604624	3	3	193	1	0	0	0	0	1	0	0	0	12340	159	6	2	161	2	PPM1G	2	27604624	Missense_Mutation	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08		27604624	215594749	6	8440										
SMEK2	57223	broad.mit.edu	37	chr2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	aaccagcagcgacatcccctTgagctcctccacgtaagtgg	9	15	0	1	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_ENST00000272313.5_Missense_Mutation_p.K36E|SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	38	52	---	---	---	---	C	55844316	T	C	55844316	3	2	193	1	0	0	0	0	1	0	0	0	14794	1821	63	2	2511	2	SMEK2	2	55844316	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	28239692	55844316	187355057	7	8441										
SCN1A	6323	broad.mit.edu	37	chr2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	agcattggtgggaggccattGtatacatttattcctcaggt	11	7	1	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.chr2:166908358G>A	ENST00000303395.4	-	6	834	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			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*		Somatic				AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*	p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	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	32	27	---	---	---	---	A	166908358	G	A	166908358	4	1	193	1	0	0	0	0	0	1	0	0	13914	1386	48	2	5278	2	SCN1A	2	166908358	Nonsense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	111064042	166908358	76291015	8	8442										
SP3	6670	broad.mit.edu	37	chr2	174777796	174777796	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	gttaaaagtaagtattagtaAcctgtatgtgttcttctgtg	9	4	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.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			Somatic				SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site		NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	WXS	Illumina GAIIx	Phase_I	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	13	26	---	---	---	---	G	174777796	A	G	174777796	5	3	193	1	0	0	0	0	0	0	1	0	14965	57	2	2	322	2	SP3	2	174777796	Splice_Site	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08	7869438	174777796	68421577	9	8443										
ECE2	9718	broad.mit.edu	37	chr3	183994314	183994314	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ttcgggatgaagacgcacccGagacccccgtagagggcggg	16	12	0	4	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				ECE2_ENST00000359140.4_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|ECE2_ENST00000404464.3_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			Somatic				ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|EIF2B5_ENST00000444495.1_Intron	p.E29K	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	WXS	Illumina GAIIx	Phase_I	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	16	33	---	---	---	---	A	183994314	G	A	183994314	1	1	193	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		183994314	14028116	10	8444										
ECE2	9718	broad.mit.edu	37	chr3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	gaggaaccccctgcccgatgGgcgttctcgctggaacacct	12	15	1	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.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E	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		Somatic				ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|EIF2B5_ENST00000444495.1_Intron	p.G255E	NM_014693.3	NP_055508.3	WXS	Illumina GAIIx	Phase_I	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	27	54	---	---	---	---	A	183995186	G	A	183995186	3	1	193	1	0	0	0	0	1	0	0	0	4890	1232	43	2	1342	2	ECE2	3	183995186	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	872	183995186	14027244	11	8445										
PCDH18	54510	broad.mit.edu	37	chr4	138452262	138452262	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	attgaatttggacccaaatcTtgagcctgaacatcaatctc	6	10	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.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_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			Somatic				PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q	p.Q327Q	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	14	21	---	---	---	---	C	138452262	T	C	138452262	2	2	193	1	0	0	0	0	0	0	0	1	11513	1606	56	2		2	PCDH18	4	138452262	Silent	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08		138452262	52702014	12	8446										
VCAN	1462	broad.mit.edu	37	chr5	82815919	82815919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	actcatttagaagacttggaGtcagtctcagcatccacaac	7	11	3	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.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	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			Somatic				VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron	p.E598E	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	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	62	62	---	---	---	---	A	82815919	G	A	82815919	2	1	193	1	0	0	0	0	0	0	0	1	17135	1020	36	2		2	VCAN	5	82815919	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		82815919	98099341	13	8447										
CCNJL	79616	broad.mit.edu	37	chr5	159680553	159680553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ggctgcagcggttggtacggGgtgtggagggatgagcctgt	21	6	0	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.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	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			Somatic				CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	p.T380T	NM_024565.5	NP_078841.3	WXS	Illumina GAIIx	Phase_I	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	33	54	---	---	---	---	A	159680553	G	A	159680553	2	1	193	1	0	0	0	0	0	0	0	1	2929	1219	43	2		2	CCNJL	5	159680553	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	76864634	159680553	21234707	14	8448										
TFAP2B	7021	broad.mit.edu	37	chr6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	agaatttacggatctactggCgcaggaccggacaccgatag	12	10	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.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		Somatic				TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V	p.A381V			WXS	Illumina GAIIx	Phase_I	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	7	235	---	---	---	---	T	50810837	C	T	50810837	3	4	193	1	0	0	0	0	1	0	0	0	15785	768	27	2	1141	2	TFAP2B	6	50810837	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		50810837	120304230	15	8449										
PKHD1	5314	broad.mit.edu	37	chr6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	agcctcttcctctcggacaaTgtggcggctaactttccttc	8	14	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.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_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		Somatic				RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	p.I3959V	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	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	77	71	---	---	---	---	C	51484229	T	C	51484229	3	2	193	1	0	0	0	0	1	0	0	0	11971	1464	51	2	353	2	PKHD1	6	51484229	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	673392	51484229	119630838	16	8450										
TAS2R4	50832	broad.mit.edu	37	chr7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	tttagtggtttctttggtctTgagctcatctctccagttca	8	9	5	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.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		Somatic				SSBP1_ENST00000465582.1_Intron	p.L183W	NM_016944.1	NP_058640.1	WXS	Illumina GAIIx	Phase_I	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	86	137	---	---	---	---	G	141478836	T	G	141478836	3	3	193	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	17	8451										
TACC1	6867	broad.mit.edu	37	chr8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	tttctgatctcttcaggagaTatgagaacctgaaaggtgtt	10	6	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	RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000379931.3_Missense_Mutation_p.Y707D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D	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		Somatic				TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D	p.Y707D			WXS	Illumina GAIIx	Phase_I	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	37	50	---	---	---	---	G	38699927	T	G	38699927	3	3	193	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	18	8452										
PTPRD	5789	broad.mit.edu	37	chr9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-													0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	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_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs	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)aaafs		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)	Somatic				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_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs	p.K1079fs	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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	193	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	19	8453										
SH3GL2	6456	broad.mit.edu	37	chr9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	aggcagtccagatcctgcagCaagtcacggtcagactggaa	12	11	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.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*		Somatic				SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	p.Q235*	NM_003026.2	NP_003017.1	WXS	Illumina GAIIx	Phase_I	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	36	6	---	---	---	---	T	17791307	C	T	17791307	4	4	193	1	0	0	0	0	0	1	0	0	14251	711	25	2	729	2	SH3GL2	9	17791307	Nonsense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	9307012	17791307	123422124	20	8454										
ALDH1A1	216	broad.mit.edu	37	chr9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ctgtgggctggacaaagtagCctttattcccccacgggcct	11	13	0	0	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		Somatic					p.G379V	NM_000689.4	NP_000680.2	WXS	Illumina GAIIx	Phase_I	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	45	78	---	---	---	---	A	75526938	C	A	75526938	3	1	193	1	0	0	0	0	1	0	0	0	490	739	26	3	385	3	ALDH1A1	9	75526938	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	57735631	75526938	65686493	21	8455										
CDH23	414152	broad.mit.edu	37	chr10	73468898	73468898	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	agcgtgggttaccgcgatgcCgttgtgagaaccgtggtggg	18	8	0	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.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			Somatic					p.A1055A	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	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	6	60	---	---	---	---	T	73468898	C	T	73468898	1	4	193	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	22	8456										
CTSD	1509	broad.mit.edu	37	chr11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ccagtaggccttgcgggtgaCattcaggtaggacagagaac	14	9	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.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		Somatic				RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	p.V264I	NM_001909.4	NP_001900.1	WXS	Illumina GAIIx	Phase_I	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	36	51	---	---	---	---	T	1776173	C	T	1776173	3	4	193	1	0	0	0	0	1	0	0	0	4032	478	17	2	464	2	CTSD	11	1776173	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		1776173	133230343	23	8457										
KCNJ5	3762	broad.mit.edu	37	chr11	128781513	128781513	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	tggctcattgcttatatccgGggtgacctggaccatgttgg	13	9	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.chr11:128781513G>T	ENST00000338350.4	+	3	697	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000529694.1_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			Somatic				KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000338350.4_Silent_p.R115R	p.R115R	NM_000890.3	NP_000881.3	WXS	Illumina GAIIx	Phase_I	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	58	61	---	---	---	---	T	128781513	G	T	128781513	2	4	193	1	0	0	0	0	0	0	0	1	8054	1219	43	1		1	KCNJ5	11	128781513	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	127005340	128781513	6225003	24	8458										
ZBTB44	29068	broad.mit.edu	37	chr11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ctcacaagtcacataatcagCcattcttctaccggtctcag	5	14	6	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.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_ENST00000530205.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000397753.1_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		Somatic				ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P	p.A267P	NM_014155.4	NP_054874.3	WXS	Illumina GAIIx	Phase_I	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	7	143	---	---	---	---	G	130130970	C	G	130130970	3	3	193	1	0	0	0	0	1	0	0	0	17542	739	26	4	582	4	ZBTB44	11	130130970	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	1349457	130130970	4875546	25	8459										
DDX47	51202	broad.mit.edu	37	chr12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ggaaactcctttatgatattCtgcagcacctgtaataatac	6	9	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.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		Somatic				DDX47_ENST00000352940.4_Intron	p.F269L	NM_016355.3	NP_057439.2	WXS	Illumina GAIIx	Phase_I	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	4	138	---	---	---	---	A	12976860	C	A	12976860	3	1	193	1	0	0	0	0	1	0	0	0	4365	912	32	3	837	3	DDX47	12	12976860	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		12976860	120875035	26	8460										
NTRK3	4916	broad.mit.edu	37	chr15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ctgggggttctcaatgacagGgatgcgagtcatgccaatga	14	8	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.chr15:88576148G>A	ENST00000360948.2	-	13	1686	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000394480.2_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_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|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)																												ENST00000394480.2				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)	Somatic				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_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	WXS	Illumina GAIIx	Phase_I	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1846	-								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	12	16	---	---	---	---	A	88576148	G	A	88576148	3	1	193	1	0	0	0	0	1	0	0	0	10708	1232	43	2	1284	2	NTRK3	15	88576148	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		88576148	13955244	27	8461										
ITGA3	3675	broad.mit.edu	37	chr17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	aggcttgggcaaagtgtacaTctatcacagtagctctaagg	11	8	3	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.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		Somatic				ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N|ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N	p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	WXS	Illumina GAIIx	Phase_I	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	25	40	---	---	---	---	A	48151325	T	A	48151325	3	1	193	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		48151325	33043885	28	8462										
SPIRE1	56907	broad.mit.edu	37	chr18	12463458	12463458	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	ggctgccgtctctctggctgGggtgttgatgatatgggcag	17	8	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.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.P299P	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			Somatic				SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR	p.P510P	NM_001128626.1	NP_001122098.1	WXS	Illumina GAIIx	Phase_I	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	5	45	---	---	---	---	T	12463458	G	T	12463458	2	4	193	1	0	0	0	0	0	0	0	1	15070	1219	43	1		1	SPIRE1	18	12463458	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		12463458	65613790	29	8463										
MAG	4099	broad.mit.edu	37	chr19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	cctcctggagtcccactgcgCggcagcccgagacacggtgc	13	17	0	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.chr19:35800810C>T	ENST00000392213.3	+	8	1424	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.A422V|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	201	---	---	---	---	T	35800810	C	T	35800810	3	4	193	1	0	0	0	0	1	0	0	0	9162	768	27	2	1287	2	MAG	19	35800810	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		35800810	23328173	30	8464										
NOVA2	4858	broad.mit.edu	37	chr19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	cttcttggagatctggatgcGagcgcccgtcagctcctggt	13	12	3	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.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		Somatic					p.R439C	NM_002516.2	NP_002507.1	WXS	Illumina GAIIx	Phase_I	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	20	207	---	---	---	---	A	46443285	G	A	46443285	3	1	193	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	31	8465										
ZNF134	7693	broad.mit.edu	37	chr19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	atgagagtattcacactggaGaaaatccttatgattgcagt	9	6	1	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.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		Somatic					p.E313K	NM_003435.3	NP_003426.3	WXS	Illumina GAIIx	Phase_I	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	88	98	---	---	---	---	A	58132424	G	A	58132424	3	1	193	1	0	0	0	0	1	0	0	0	17721	943	33	2	943	2	ZNF134	19	58132424	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	11689139	58132424	996559	32	8466										
COL6A1	1291	broad.mit.edu	37	chr21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.443152454780362	0	0.46922024623803	1	1	0	gggggagatggggtacccagGcctgccaggctgcaagggct	19	10	0	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		Somatic					p.G341D	NM_001848.2	NP_001839.2	WXS	Illumina GAIIx	Phase_I	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	42	57	---	---	---	---	A	47410706	G	A	47410706	3	1	193	1	0	0	0	0	1	0	0	0	3699	1203	42	2	1076	2	COL6A1	21	47410706	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		47410706	719189	33	8467										
CELSR2	1952	broad.mit.edu	37	chr1	109801499	109801499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	gtgctgcgcttcgactcctcCgcgcccttcatcgcctcctc	8	20	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.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			Somatic					p.S1252S	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	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	7	29	---	---	---	---	T	109801499	C	T	109801499	2	4	194	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		109801499	139449122	1	8468										
CHI3L2	1117	broad.mit.edu	37	chr1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	aaggagccaagatcacgcggCtccaggatcaacaggttccc	11	13	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.chr1:111783985C>T	ENST00000445067.2	+	11	1726	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000529459.1_3'UTR			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		Somatic				CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F	p.L319F			WXS	Illumina GAIIx	Phase_I	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	34	69	---	---	---	---	T	111783985	C	T	111783985	3	4	194	1	0	0	0	0	1	0	0	0	3341	797	28	2	989	2	CHI3L2	1	111783985	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	1982486	111783985	137466636	2	8469										
ARHGEF2	9181	broad.mit.edu	37	chr1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	ggggcccttgccaggcactgGggtttgggcccgagggtcca	18	12	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.chr1:155931554G>A	ENST00000361247.4	-	11	1465	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P501S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S	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)	ENST00000462460.2																			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.(1501-1503)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		Somatic				ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000477754.2_Intron	p.P501S			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			15	1755	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1501C>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	22	82	---	---	---	---	A	155931554	G	A	155931554	3	1	194	1	0	0	0	0	1	0	0	0	903	1232	43	2	1642	2	ARHGEF2	1	155931554	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44147569	155931554	93319067	3	8470										
CD1C	911	broad.mit.edu	37	chr1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	caaaagcatcccaggaacacGtctccttccatgtcatccag	6	15	2	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.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		Somatic					p.V26I	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	A	158260938	G	A	158260938	3	1	194	1	0	0	0	0	1	0	0	0	2976	1145	40	2	82	2	CD1C	1	158260938	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	2329384	158260938	90989683	4	8471										
PARP1	142	broad.mit.edu	37	chr1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	atcatcagaccctcccctgaGcagactgtaggccacctcga	8	16	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.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		Somatic				PARP1_ENST00000490921.1_5'UTR	p.L778F	NM_001618.3	NP_001609.2	WXS	Illumina GAIIx	Phase_I	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	38	71	---	---	---	---	A	226555255	G	A	226555255	3	1	194	1	0	0	0	0	1	0	0	0	11454	971	34	2	740	2	PARP1	1	226555255	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	68294317	226555255	22695366	5	8472										
FAHD2A	51011	broad.mit.edu	37	chr2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	ccagttgccagtcctaccacGgtcggaggtaaccttcctgg	11	14	0	0	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		Somatic				FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	p.R93Q	NM_016044.2	NP_057128.2	WXS	Illumina GAIIx	Phase_I	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	16	36	---	---	---	---	A	96072721	G	A	96072721	3	1	194	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		96072721	147126652	6	8473										
LRP1B	53353	broad.mit.edu	37	chr2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	tcatcaacacttcctaaggaGtttcgacagttttgcccatc	6	12	2	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.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)	Somatic					p.N4574K	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	9	14	---	---	---	---	T	140990833	G	T	140990833	3	4	194	1	0	0	0	0	1	0	0	0	8955	1020	36	3	81	3	LRP1B	2	140990833	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44918112	140990833	102208540	7	8474										
RAB33B	83452	broad.mit.edu	37	chr4	140393995	140393995	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	atagaagaatgcaaacaacaTttgctagccaatgatatacc	6	8	0	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.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			Somatic					p.H135H	NM_031296.1	NP_112586.1	WXS	Illumina GAIIx	Phase_I	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	53	75	---	---	---	---	C	140393995	T	C	140393995	2	2	194	1	0	0	0	0	0	0	0	1	12923	1490	52	2		2	RAB33B	4	140393995	Silent	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08		140393995	50760281	8	8475										
ZNF827	152485	broad.mit.edu	37	chr4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	gtctcgcaggacctcactgtCcagtgccaccagctccaacg	9	17	2	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		Somatic				ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y	p.D87Y			WXS	Illumina GAIIx	Phase_I	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	27	40	---	---	---	---	A	146824152	C	A	146824152	3	1	194	1	0	0	0	0	1	0	0	0	18177	855	30	3	3022	3	ZNF827	4	146824152	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	6430157	146824152	44330124	9	8476										
GCNT2	2651	broad.mit.edu	37	chr6	10529594	10529594	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	ctcagctgcttcccaaatgcTtttctggcttccaagaagga	8	12	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.chr6:10529594T>A	ENST00000379597.3	+	1	1006	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000397423.2_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			Somatic				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.A150A	p.A150A			WXS	Illumina GAIIx	Phase_I	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	39	56	---	---	---	---	A	10529594	T	A	10529594	2	1	194	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	10	8477										
POLR3A	11128	broad.mit.edu	37	chr10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	tggatgtgcagatggaatatCtcactgtctcagcgttcacc	10	10	3	1	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		Somatic					p.R1150K	NM_007055.3	NP_008986.2	WXS	Illumina GAIIx	Phase_I	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	5	58	---	---	---	---	T	79742556	C	T	79742556	3	4	194	1	0	0	0	0	1	0	0	0	12228	913	32	2	743	2	POLR3A	10	79742556	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		79742556	55792191	11	8478										
OR4A16	81327	broad.mit.edu	37	chr11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	gttaagtatagttagaaaaaGagtatctcccacactgaaca	7	7	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.chr11:55111605G>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		Somatic					p.R310K	NM_001005274.1	NP_001005274.1	WXS	Illumina GAIIx	Phase_I	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	7	36	---	---	---	---	A	55111605	G	A	55111605	3	1	194	1	0	0	0	0	1	0	0	0	11041	942	33	2	931	2	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		55111605	79894911	12	8479										
LTBR	4055	broad.mit.edu	37	chr12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	cgggaatgttctgtgctgccTgggccctcgagtgtacacac	13	12	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.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_ENST00000541102.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G	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		Somatic				LTBR_ENST00000543190.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000541102.1_Missense_Mutation_p.W28G	p.W135G	NM_002342.2	NP_002333.1	WXS	Illumina GAIIx	Phase_I	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	29	65	---	---	---	---	G	6494476	T	G	6494476	3	3	194	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	13	8480										
USP15	9958	broad.mit.edu	37	chr12	62777656	62777656	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	tttgcacctcagttctctggAtatcagcagcaagactgtca	8	11	4	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.chr12:62777656A>G	ENST00000280377.5	+	10	1183	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_ENST00000353364.3_Silent_p.G346G|USP15_ENST00000393654.3_Silent_p.G350G	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			Somatic				USP15_ENST00000393654.3_Silent_p.G350G|USP15_ENST00000353364.3_Silent_p.G346G	p.G375G	NM_001252078.1	NP_001239007.1	WXS	Illumina GAIIx	Phase_I	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	24	42	---	---	---	---	G	62777656	A	G	62777656	2	3	194	1	0	0	0	0	0	0	0	1	17043	320	12	2		2	USP15	12	62777656	Silent	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	56283180	62777656	71074239	14	8481										
NR2E3	10002	broad.mit.edu	37	chr15	72105883	72105883	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	gctggccagcatggagacgcGtgtcctgcaggaaactatct	13	11	1	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			Somatic								WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	T	72105883	G	T	72105883	1	4	194	0	1	0	0	0	0	0	0	0	10626	1145	40	3		3	NR2E3	15	72105883	RNA	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		72105883	30425509	15	8482										
TBCD	6904	broad.mit.edu	37	chr17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	cgcaggccgccttccaggagAatgtggggagacaggtatgg	17	9	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.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		Somatic				TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	p.N517D	NM_005993.4	NP_005984.3	WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	G	80847559	A	G	80847559	3	3	194	1	0	0	0	0	1	0	0	0	15630	246	9	2	1611	2	TBCD	17	80847559	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08		80847559	347651	16	8483										
CCDC11	220136	broad.mit.edu	37	chr18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	cacctgcttcaaactctcggCgtttctcttccttctctgct	5	16	4	0	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		Somatic					p.R470H	NM_145020.3	NP_659457.2	WXS	Illumina GAIIx	Phase_I	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	28	157	---	---	---	---	T	47753887	C	T	47753887	3	4	194	1	0	0	0	0	1	0	0	0	2746	768	27	2	139	2	CCDC11	18	47753887	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		47753887	30323361	17	8484										
DNAJC28	54943	broad.mit.edu	37	chr21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	accttcaaaacttaaataatGtcggtgttggggtgttttat	9	5	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.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		Somatic				DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y	p.H135Y	NM_017833.3	NP_060303.2	WXS	Illumina GAIIx	Phase_I	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	16	48	---	---	---	---	A	34861298	G	A	34861298	3	1	194	1	0	0	0	0	1	0	0	0	4646	1377	48	2	767	2	DNAJC28	21	34861298	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		34861298	13268597	18	8485										
GGA1	26088	broad.mit.edu	37	chr22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	ccatcgtccacccctcagcaAtcacccaggtcctgctgctt	6	19	2	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.chr22:38028487A>G	ENST00000343632.4	+	16	2160	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	GGA1_ENST00000406772.1_Missense_Mutation_p.I519V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V|GGA1_ENST00000337437.4_Missense_Mutation_p.I559V	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		Somatic				GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V	p.I519V	NM_001172688.1	NP_001166159.1	WXS	Illumina GAIIx	Phase_I	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	16	162	---	---	---	---	G	38028487	A	G	38028487	3	3	194	1	0	0	0	0	1	0	0	0	6352	101	4	2	1902	2	GGA1	22	38028487	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08		38028487	13276079	19	8486										
XG	7499	broad.mit.edu	37	chrX	2726251	2726251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.58181818181818	NA	1.58181818181818	0.333333333333333	1	0	gatcaccattcaacgtatggCaatccagaaggtaactgatt	8	9	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.chrX:2726251C>T	ENST00000381174.5	+	8	624	c.399C>T	c.(397-399)ggC>ggT	p.G133G	XG_ENST00000419513.2_Silent_p.G148G|XG_ENST00000426774.1_Silent_p.G134G			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			Somatic				XG_ENST00000419513.2_Silent_p.G148G|XG_ENST00000381174.5_Silent_p.G133G	p.G134G	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	T	2726251	C	T	2726251	2	4	194	1	0	0	0	0	0	0	0	1	17424	697	25	2		2	XG	23	2726251	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		2726251	152544309	20	8487										
RPF1	80135	broad.mit.edu	37	chr1	84961652	84961652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gtcattcaattggacgtatgTttgcatctctctttcctcat	6	10	5	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.chr1:84961652T>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		Somatic					p.F263V	NM_025065.6	NP_079341.2	WXS	Illumina GAIIx	Phase_I	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	17	35	---	---	---	---	G	84961652	T	G	84961652	3	3	195	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		84961652	164288969	1	8488										
SLAMF9	89886	broad.mit.edu	37	chr1	159922246	159922246	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ccatgcctgccttctccacaGagcacaccagggacatactg	8	16	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.chr1:159922246G>A	ENST00000368093.3	-	3	586	c.470C>T	c.(469-471)tCt>tTt	p.S157F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	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		Somatic				SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	p.S157F	NM_033438.3	NP_254273.2	WXS	Illumina GAIIx	Phase_I	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	14	100	---	---	---	---	A	159922246	G	A	159922246	3	1	195	1	0	0	0	0	1	0	0	0	14371	942	33	2	407	2	SLAMF9	1	159922246	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	74960594	159922246	89328375	2	8489										
SIPA1L2	57568	broad.mit.edu	37	chr1	232601028	232601028	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ttgctcgaaacttttctgatTtatgggctgcattttctgca	8	8	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.chr1:232601028T>G	ENST00000366630.1	-	8	2736	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T			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		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793T	p.K793T			WXS	Illumina GAIIx	Phase_I	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	34	82	---	---	---	---	G	232601028	T	G	232601028	3	3	195	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	72678782	232601028	16649593	3	8490										
TTN	7273	broad.mit.edu	37	chr2	179418324	179418324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	cccggaagtagtaattgactCcaggtttcaggttggatacc	11	9	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.chr2:179418324C>T	ENST00000591111.1	-	284	84709	c.84485G>A	c.(84484-84486)gGa>gAa	p.G28162E	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN_ENST00000589042.1_Missense_Mutation_p.G29803E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_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		Somatic				TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27235E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20863E|TTN_ENST00000460472.2_Missense_Mutation_p.G20738E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20930E|TTN_ENST00000591111.1_Missense_Mutation_p.G28162E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.G29803E	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	T	179418324	C	T	179418324	3	4	195	1	0	0	0	0	1	0	0	0	16732	855	30	2	18687	2	TTN	2	179418324	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		179418324	63781049	4	8491										
DYTN	391475	broad.mit.edu	37	chr2	207564545	207564545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ccggtggcaggtcgggagccAcaggaggatgggaggctcag	20	9	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.chr2:207564545A>G	ENST00000452335.2	-	7	741	c.625T>C	c.(625-627)Tgg>Cgg	p.W209R	Y_RNA_ENST00000384589.1_RNA|DYTN_ENST00000477734.1_5'UTR	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		Somatic				DYTN_ENST00000477734.1_5'UTR	p.W209R	NM_001093730.1	NP_001087199.1	WXS	Illumina GAIIx	Phase_I	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	10	18	---	---	---	---	G	207564545	A	G	207564545	3	3	195	1	0	0	0	0	1	0	0	0	4861	159	6	2	1135	2	DYTN	2	207564545	Missense_Mutation	SNP	A	TCGA-HC-A76W-01A-11D-A33T-08	28146221	207564545	35634828	5	8492										
STAC	6769	broad.mit.edu	37	chr3	36570362	36570362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gaaaattcaagacagaattgGcttctttccagccaactttg	7	9	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.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		Somatic				STAC_ENST00000457375.2_Missense_Mutation_p.G271V	p.G332V	NM_003149.1	NP_003140.1	WXS	Illumina GAIIx	Phase_I	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	19	28	---	---	---	---	T	36570362	G	T	36570362	3	4	195	1	0	0	0	0	1	0	0	0	15238	1203	42	3	1033	3	STAC	3	36570362	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		36570362	161452068	6	8493										
PCBP4	57060	broad.mit.edu	37	chr3	51992299	51992299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gccgtcaggggtggcgagaaGggggcaggcaggtctgcggg	23	8	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.chr3:51992299G>A	ENST00000461554.1	-	14	1321	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000484633.1_Silent_p.P287P|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000395013.3_Silent_p.P170P|RP11-155D18.12_ENST00000488257.1_RNA	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			Somatic				PCBP4_ENST00000395013.3_Silent_p.P170P|PCBP4_ENST00000355852.2_Silent_p.P330P|PCBP4_ENST00000395014.2_Silent_p.P351P|PCBP4_ENST00000428823.2_Silent_p.P287P|PCBP4_ENST00000471622.1_Intron|PCBP4_ENST00000322099.7_Silent_p.P330P|PCBP4_ENST00000484633.1_Silent_p.P287P	p.P330P	NM_001174100.1	NP_001167571.1	WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	A	51992299	G	A	51992299	2	1	195	1	0	0	0	0	0	0	0	1	11503	987	35	2		2	PCBP4	3	51992299	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	15421937	51992299	146030131	7	8494										
ROBO2	6092	broad.mit.edu	37	chr3	77666801	77666801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ggcttcttctcctgctatctCctttggacagcagtccactg	8	14	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.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		Somatic				ROBO2_ENST00000487694.3_Missense_Mutation_p.S1160Y|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1144Y|ROBO2_ENST00000469233.1_3'UTR	p.S1144Y	NM_002942.4	NP_002933.1	WXS	Illumina GAIIx	Phase_I	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	25	54	---	---	---	---	A	77666801	C	A	77666801	3	1	195	1	0	0	0	0	1	0	0	0	13514	855	30	3	3519	3	ROBO2	3	77666801	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	25674502	77666801	120355629	8	8495										
IFT122	55764	broad.mit.edu	37	chr3	129185799	129185799	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gatgtcattgtcaacagataTattcaggaaatcccttccac	6	10	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.chr3:129185799T>G	ENST00000348417.2	+	8	707	c.630T>G	c.(628-630)taT>taG	p.Y210*	IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Y261*	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*		Somatic				IFT122_ENST00000347300.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Y210*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Y60*	p.Y261*	NM_052985.2	NP_443711.2	WXS	Illumina GAIIx	Phase_I	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	31	76	---	---	---	---	G	129185799	T	G	129185799	4	3	195	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	9	8496										
NAP1L5	266812	broad.mit.edu	37	chr4	89618405	89618405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gcgtgggcatcgtcatgtttGgcccccgcggcagcctctgc	14	15	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.chr4:89618405G>A	ENST00000323061.5	-	1	981	c.501C>T	c.(499-501)gcC>gcT	p.A167A	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_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			Somatic				HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	p.A167A	NM_153757.2	NP_715638.1	WXS	Illumina GAIIx	Phase_I	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	45	115	---	---	---	---	A	89618405	G	A	89618405	2	1	195	1	0	0	0	0	0	0	0	1	10160	1335	47	2		2	NAP1L5	4	89618405	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		89618405	101535871	10	8497										
KCNU1	157855	broad.mit.edu	37	chr8	36698073	36698073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	tctgatgactttgctggaatGagctttcctgaagttgcccg	11	9	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.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		Somatic					p.M537I	NM_001031836.2	NP_001027006.2	WXS	Illumina GAIIx	Phase_I	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	7	18	---	---	---	---	A	36698073	G	A	36698073	3	1	195	1	0	0	0	0	1	0	0	0	8093	1290	45	2	1669	2	KCNU1	8	36698073	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		36698073	109665949	11	8498										
ADAM2	2515	broad.mit.edu	37	chr8	39624425	39624425	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	atacaaactccatctatacaGatccattgattcagtccaca	3	12	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.chr8:39624425G>A	ENST00000265708.4	-	14	1552	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000347580.4_Silent_p.I464I	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			Somatic				ADAM2_ENST00000521880.1_Silent_p.I483I|ADAM2_ENST00000379853.2_Silent_p.I357I|ADAM2_ENST00000347580.4_Silent_p.I464I	p.I483I	NM_001464.3	NP_001455.3	WXS	Illumina GAIIx	Phase_I	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	5	120	---	---	---	---	A	39624425	G	A	39624425	2	1	195	1	0	0	0	0	0	0	0	1	241	932	33	2		2	ADAM2	8	39624425	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	2926352	39624425	106739597	12	8499			1	15		3	3	131	G		8.958872e-09
ADAM2	2515	broad.mit.edu	37	chr8	39624531	39624531	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ggaggtcgcattcttcaaagGaaggcctacacattctttct	9	10	4	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.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_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	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		Somatic				ADAM2_ENST00000521880.1_Missense_Mutation_p.S448Y|ADAM2_ENST00000379853.2_Missense_Mutation_p.S322Y|ADAM2_ENST00000347580.4_Missense_Mutation_p.S429Y	p.S448Y	NM_001464.3	NP_001455.3	WXS	Illumina GAIIx	Phase_I	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	5	123	---	---	---	---	T	39624531	G	T	39624531	3	4	195	1	0	0	0	0	1	0	0	0	241	1174	41	3	892	3	ADAM2	8	39624531	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	106	39624531	106739491	13	8500			1	15		3	3	131	G		8.958872e-09
ADAM2	2515	broad.mit.edu	37	chr8	39624555	39624555	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gcctacacattctttcttttGacataaactgatgggatgag	8	8	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.chr8:39624555G>C	ENST00000265708.4	-	14	1422	c.1319C>G	c.(1318-1320)tCa>tGa	p.S440*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	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*		Somatic				ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S440*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.S314*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S421*	p.S440*	NM_001464.3	NP_001455.3	WXS	Illumina GAIIx	Phase_I	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	4	113	---	---	---	---	C	39624555	G	C	39624555	4	2	195	1	0	0	0	0	0	1	0	0	241	1294	45	4	916	4	ADAM2	8	39624555	Nonsense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	24	39624555	106739467	14	8501			1	15		3	3	131	G		8.958872e-09
LY96	23643	broad.mit.edu	37	chr8	74922262	74922262	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	atttaaagcaattatatttcAatctctatataactgtcaac	2	7	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.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		Somatic				LY96_ENST00000518893.1_Missense_Mutation_p.N47Y	p.N77Y	NM_015364.4	NP_056179	WXS	Illumina GAIIx	Phase_I	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	17	46	---	---	---	---	T	74922262	A	T	74922262	3	4	195	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	15	8502										
TAL2	6887	broad.mit.edu	37	chr9	108425068	108425068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	actctgcttgagaactaccaGgttccttcacctggtccaag	8	13	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.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			Somatic					p.Q97Q	NM_005421.2	NP_005412.1	WXS	Illumina GAIIx	Phase_I	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	12	29	---	---	---	---	A	108425068	G	A	108425068	2	1	195	1	0	0	0	0	0	0	0	1	15539	991	35	2		2	TAL2	9	108425068	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		108425068	32788363	16	8503										
DKK1	22943	broad.mit.edu	37	chr10	54076171	54076171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	attccagaagaaccaccttgTcttcaaaaatgtatcacacc	4	12	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.chr10:54076171T>C	ENST00000373970.3	+	3	662	c.523T>C	c.(523-525)Tct>Cct	p.S175P	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	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		Somatic				DKK1_ENST00000467359.1_3'UTR	p.S175P	NM_012242.2	NP_036374.1	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	C	54076171	T	C	54076171	3	2	195	1	0	0	0	0	1	0	0	0	4544	1667	58	2	533	2	DKK1	10	54076171	Missense_Mutation	SNP	T	TCGA-HC-A76W-01A-11D-A33T-08		54076171	81458576	17	8504										
KIF20B	9585	broad.mit.edu	37	chr10	91512349	91512349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gaaaaatggaaggaaaaatgCaatgatttggaaaccaaaaa	9	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.chr10:91512349C>T	ENST00000371728.3	+	25	4313	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	KIF20B_ENST00000416354.1_Silent_p.C1446C|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000478929.1_3'UTR	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			Somatic				KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.C1416C|KIF20B_ENST00000260753.4_Silent_p.C1376C|KIF20B_ENST00000371728.3_Silent_p.C1416C	p.C1446C			WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	T	91512349	C	T	91512349	2	4	195	1	0	0	0	0	0	0	0	1	8287	718	25	2		2	KIF20B	10	91512349	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	37436178	91512349	44022398	18	8505										
PPP2R5B	5526	broad.mit.edu	37	chr11	64694285	64694285	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	tggccgacctcaaggggaagGaggtgaagcgggcagccctc	17	11	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.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*		Somatic					p.E101*	NM_006244.3	NP_006235.1	WXS	Illumina GAIIx	Phase_I	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	6	111	---	---	---	---	T	64694285	G	T	64694285	4	4	195	1	0	0	0	0	0	1	0	0	12393	1175	41	3	307	3	PPP2R5B	11	64694285	Nonsense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		64694285	70312231	19	8506										
UBASH3B	84959	broad.mit.edu	37	chr11	122659912	122659912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	atggagcagaccagcaccagCgagggttggatctatggcac	14	10	1	1	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			Somatic					p.S292S	NM_032873.4	NP_116262.2	WXS	Illumina GAIIx	Phase_I	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	64	153	---	---	---	---	T	122659912	C	T	122659912	2	4	195	1	0	0	0	0	0	0	0	1	16837	767	27	2		2	UBASH3B	11	122659912	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	57965627	122659912	12346604	20	8507										
GALNT8	26290	broad.mit.edu	37	chr12	4853823	4853823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gggaagctgccacagcagacGtggtcgccatcttggatgct	14	11	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		Somatic					p.V273M	NM_017417.1	NP_059113.1	WXS	Illumina GAIIx	Phase_I	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	10	20	---	---	---	---	A	4853823	G	A	4853823	3	1	195	1	0	0	0	0	1	0	0	0	6219	1145	40	2	831	2	GALNT8	12	4853823	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		4853823	128998072	21	8508										
ARNTL2	56938	broad.mit.edu	37	chr12	27540209	27540209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gatgtgaaagaggaaaaattCtcttcgtttctaagtcagtc	9	6	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.chr12:27540209C>T	ENST00000266503.5	+	7	631	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000544915.1_Missense_Mutation_p.L171F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F			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		Somatic				ARNTL2_ENST00000311001.5_Missense_Mutation_p.L191F|ARNTL2_ENST00000261178.5_Missense_Mutation_p.L157F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.L168F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.L205F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.L120F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.L168F	p.L171F	NM_020183.4	NP_064568.3	WXS	Illumina GAIIx	Phase_I	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	17	45	---	---	---	---	T	27540209	C	T	27540209	3	4	195	1	0	0	0	0	1	0	0	0	968	913	32	2	639	2	ARNTL2	12	27540209	Missense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	22686386	27540209	106311686	22	8509										
FAM186B	84070	broad.mit.edu	37	chr12	49994194	49994203	+	Frame_Shift_Del	DEL	GTGTCCTTGC	GTGTCCTTGC	-													0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	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|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron	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)agcaaggacactfs		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		Somatic				FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.SKDT407fs	p.SKDT317fs			WXS	Illumina GAIIx	Phase_I	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	195	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	22453985	49994194	83857701	23	8510										
BMP4	652	broad.mit.edu	37	chr14	54417158	54417158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	cggccatcatggccaaaggtGaccaggaggggccggagctg	17	11	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.chr14:54417158G>A	ENST00000245451.4	-	4	1212	c.819C>T	c.(817-819)gtC>gtT	p.V273V	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000558984.1_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			Somatic				BMP4_ENST00000417573.1_Silent_p.V273V|BMP4_ENST00000559087.1_Silent_p.V273V|BMP4_ENST00000558984.1_Silent_p.V273V	p.V273V	NM_001202.3	NP_001193.2	WXS	Illumina GAIIx	Phase_I	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	14	35	---	---	---	---	A	54417158	G	A	54417158	2	1	195	1	0	0	0	0	0	0	0	1	1462	1277	45	2		2	BMP4	14	54417158	Silent	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		54417158	52932382	24	8511										
SCNN1B	6338	broad.mit.edu	37	chr16	23379203	23379205	+	In_Frame_Del	DEL	ACT	ACT	-													0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	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_ENST00000568923.1_In_Frame_Del_p.Y242del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del	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)cactat>cat		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)																																			SO:0001651	inframe_deletion	6338				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		Somatic				SCNN1B_ENST00000568085.1_In_Frame_Del_p.Y269del|SCNN1B_ENST00000568923.1_In_Frame_Del_p.Y242del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.Y314del	p.Y269del	NM_000336.2	NP_000327.2	WXS	Illumina GAIIx	Phase_I	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	5	979_981	+			269					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	195	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	25	8512										
CACNB1	782	broad.mit.edu	37	chr17	37341091	37341091	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	atgggcctcatggaaggcacCacgtcataggggggcacatg	15	10	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.chr17:37341091C>G	ENST00000394303.3	-	8	882	c.675G>C	c.(673-675)gtG>gtC	p.V225V	CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000394310.3_Silent_p.V225V	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			Somatic				CACNB1_ENST00000344140.5_Silent_p.V270V|CACNB1_ENST00000394310.3_Silent_p.V225V	p.V225V	NM_000723.4	NP_000714.3	WXS	Illumina GAIIx	Phase_I	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	5	54	---	---	---	---	G	37341091	C	G	37341091	2	3	195	1	0	0	0	0	0	0	0	1	2552	581	21	4		4	CACNB1	17	37341091	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		37341091	43854119	26	8513										
TJP3	27134	broad.mit.edu	37	chr19	3731956	3731956	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ttggcgtcaagctgggcagtCagatcttcatcaagcacatt	10	10	5	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.chr19:3731956C>T	ENST00000541714.2	+	6	1099	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|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*		Somatic				TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q177*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q213*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q222*|TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q232*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q232*	p.Q213*	NM_001267560.1	NP_001254489.1	WXS	Illumina GAIIx	Phase_I	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	24	61	---	---	---	---	T	3731956	C	T	3731956	4	4	195	1	0	0	0	0	0	1	0	0	15928	827	29	2	712	2	TJP3	19	3731956	Nonsense_Mutation	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08		3731956	55397027	27	8514										
PRKCSH	5589	broad.mit.edu	37	chr19	11559781	11559781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	tctcgcagaaacccaaactcGggggctctcccaccagcctt	8	17	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_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000252455.2_Missense_Mutation_p.G440R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|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		Somatic				PRKCSH_ENST00000587327.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.G440R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.G437R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.G447R	p.G440R	NM_002743.2	NP_002734.2	WXS	Illumina GAIIx	Phase_I	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	4	132	---	---	---	---	A	11559781	G	A	11559781	3	1	195	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	28	8515										
F2RL3	9002	broad.mit.edu	37	chr19	17000463	17000463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gacagtgacaccctggagctCccggacagctcacgggcact	12	15	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.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			Somatic				F2RL3_ENST00000248076.3_Silent_p.L63L	p.S62F			WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	T	17000463	C	T	17000463	2	4	195	1	0	0	0	0	0	0	0	1	5346	842	30	2		2	F2RL3	19	17000463	Silent	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	5440682	17000463	42128520	29	8516										
B3GNT8	593	broad.mit.edu	37	chr19	41932284	41932284	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	ggagacttggctgccaccacCtccaggcagccactgtggga	13	14	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			Somatic				B3GNT8_ENST00000601379.1_5'UTR	p.G134S	NM_198540.2	NP_940942.1	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	T	41932284	C	T	41932284	1	4	195	0	1	0	0	0	0	0	0	0	1263	681	24	2		2	B3GNT8	19	41932284	IGR	SNP	C	TCGA-HC-A76W-01A-11D-A33T-08	24931821	41932284	17196699	30	8517										
ACE2	59272	broad.mit.edu	37	chrX	15605910	15605910	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	gggaggcatccaattggactGatataggaaggataggcatt	14	5	0	1	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		Somatic				ACE2_ENST00000252519.3_Missense_Mutation_p.I256M	p.I256M	NM_021804.2	NP_068576.1	WXS	Illumina GAIIx	Phase_I	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	35	19	---	---	---	---	C	15605910	G	C	15605910	3	2	195	1	0	0	0	0	1	0	0	0	137	1280	45	4	1701	4	ACE2	23	15605910	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08		15605910	139664650	31	8518										
ZMYM3	9203	broad.mit.edu	37	chrX	70462905	70462905	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.25	8	0.344550140721541	2.81348314606742	3.51685393258427	2.6376404494382	0.131934731934732	1	0	tagtaaaggtccgtgaaaatGttcaccatccggttattttc	8	8	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.chrX:70462905G>C	ENST00000353904.2	-	22	3649	c.3462C>G	c.(3460-3462)aaC>aaG	p.N1154K	ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|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		Somatic				ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.N1156K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.N1154K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.N1149K	p.N1142K	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	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	15	14	---	---	---	---	C	70462905	G	C	70462905	3	2	195	1	0	0	0	0	1	0	0	0	17698	1368	48	4	666	4	ZMYM3	23	70462905	Missense_Mutation	SNP	G	TCGA-HC-A76W-01A-11D-A33T-08	54856995	70462905	84807655	32	8519										
GRIK3	2899	broad.mit.edu	37	chr1	37282824	37282824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tgatgatgagcgtgaagaacCaccagatgccaccaatgatg	11	9	0	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.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		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	p.W643L	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	A	37282824	C	A	37282824	3	1	196	1	0	0	0	0	1	0	0	0	6775	595	21	1	847	1	GRIK3	1	37282824	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		37282824	211967797	1	8520										
GBP7	388646	broad.mit.edu	37	chr1	89618421	89618421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	aaagctgctgcttagaagcaCagccagggcaaagatccacg	11	11	0	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.chr1:89618421C>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		Somatic					p.V120L	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---	A	89618421	C	A	89618421	3	1	196	1	0	0	0	0	1	0	0	0	6279	478	17	3	1590	3	GBP7	1	89618421	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	52335597	89618421	159632200	2	8521										
AHCYL1	10768	broad.mit.edu	37	chr1	110555601	110555601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ctcaactcagaatgaagtagCtgcagcactggctgaggctg	12	10	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.chr1:110555601C>A	ENST00000369799.5	+	5	927	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000475081.1_3'UTR	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		Somatic				AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D	p.A187D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	110555601	C	A	110555601	3	1	196	1	0	0	0	0	1	0	0	0	410	797	28	3	578	3	AHCYL1	1	110555601	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	20937180	110555601	138695020	3	8522										
TTC13	79573	broad.mit.edu	37	chr1	231060649	231060649	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	atcaaccgtgtcttcccattCattcgaactttcgagttggt	7	11	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.chr1:231060649C>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		Somatic				TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	p.M553I	NM_024525.4	NP_078801.3	WXS	Illumina GAIIx	Phase_I	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	34	47	---	---	---	---	T	231060649	C	T	231060649	3	4	196	1	0	0	0	0	1	0	0	0	16677	826	29	2	963	2	TTC13	1	231060649	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	120505048	231060649	18189972	4	8523										
HEATR1	55127	broad.mit.edu	37	chr1	236744591	236744591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	agaaagcattgcacagcccaCataaagagcttgagtctgca	9	10	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.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		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	p.V896M	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	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	8	104	---	---	---	---	T	236744591	C	T	236744591	3	4	196	1	0	0	0	0	1	0	0	0	7027	478	17	2	3852	2	HEATR1	1	236744591	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	5683942	236744591	12506030	5	8524										
CPS1	1373	broad.mit.edu	37	chr2	211542610	211542610	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ttcctaccattatattttcaGgtgaccaaactttttgctga	5	9	1	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.chr2:211542610G>A	ENST00000233072.5	+	38	4600		c.e38-1		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_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			Somatic				CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site		NM_001875.4	NP_001866.2	WXS	Illumina GAIIx	Phase_I	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	4	160	---	---	---	---	A	211542610	G	A	211542610	5	1	196	1	0	0	0	0	0	0	1	0	3823	1014	35	2	4576	2	CPS1	2	211542610	Splice_Site	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		211542610	31656763	6	8525										
WDR48	57599	broad.mit.edu	37	chr3	39125653	39125653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ttttgatgtataggcatgtaAagttgaagatctgggcaaag	12	3	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.chr3:39125653A>C	ENST00000302313.5	+	12	1209	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T	WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T	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		Somatic				WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR	p.K394T	NM_020839.2	NP_065890.1	WXS	Illumina GAIIx	Phase_I	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	9	17	---	---	---	---	C	39125653	A	C	39125653	3	2	196	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	7	8526										
BDP1	55814	broad.mit.edu	37	chr5	70856003	70856003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ataaggaagaaagaactgatGctgctcctaagtctcagcaa	9	8	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.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		Somatic				BDP1_ENST00000380675.2_3'UTR	p.A2479S	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	T	70856003	G	T	70856003	3	4	196	1	0	0	0	0	1	0	0	0	1395	1319	46	3	7581	3	BDP1	5	70856003	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		70856003	110059257	8	8527										
VARS	7407	broad.mit.edu	37	chr6	31748517	31748517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	cacataatccaaaccggagaGcatcggtgccacattcagga	9	12	1	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.chr6:31748517G>C	ENST00000375663.3	-	24	3202	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	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		Somatic				VARS_ENST00000482996.1_5'UTR	p.A921G	NM_006295.2	NP_006286.1	WXS	Illumina GAIIx	Phase_I	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	20	32	---	---	---	---	C	31748517	G	C	31748517	3	2	196	1	0	0	0	0	1	0	0	0	17120	971	34	4	1060	4	VARS	6	31748517	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		31748517	139366550	9	8528										
GUCA1A	2978	broad.mit.edu	37	chr6	42146547	42146547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tcttccctcccaggccattcGcgccattaacccctgcagcg	7	19	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.chr6:42146547G>A	ENST00000394237.1	+	5	1335	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_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		Somatic				GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H	p.R120H			WXS	Illumina GAIIx	Phase_I	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	63	106	---	---	---	---	A	42146547	G	A	42146547	3	1	196	1	0	0	0	0	1	0	0	0	6888	1087	38	2	369	2	GUCA1A	6	42146547	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	10398030	42146547	128968520	10	8529										
DST	667	broad.mit.edu	37	chr6	56362658	56362658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ttattctcttactcacctggCgcaaggcaccatccagctgc	7	15	2	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.chr6:56362658C>T	ENST00000361203.3	-	76	19137	c.19130G>A	c.(19129-19131)cGc>cAc	p.R6377H	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370754.5_Missense_Mutation_p.R6666H			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		Somatic				DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H	p.R6666H			WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	T	56362658	C	T	56362658	3	4	196	1	0	0	0	0	1	0	0	0	4783	768	27	2	3386	2	DST	6	56362658	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08	14216111	56362658	114752409	11	8530										
GABRR2	2570	broad.mit.edu	37	chr6	90024832	90024832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tcttgggttttctgctctccAcgagaaccatcaagcaaaac	7	12	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.chr6:90024832A>C	ENST00000402938.3	-	1	186	c.53T>G	c.(52-54)gTg>gGg	p.V18G	GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	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		Somatic				GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	p.V18G	NM_002043.3	NP_002034.3	WXS	Illumina GAIIx	Phase_I	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	5	159	---	---	---	---	C	90024832	A	C	90024832	3	2	196	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	12	8531										
PCOLCE	5118	broad.mit.edu	37	chr7	100205618	100205618	+	Frame_Shift_Del	DEL	A	A	-													0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	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)ccafs		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		Somatic					p.P414fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	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	196	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		100205618	58933045	13	8532										
VPS13B	157680	broad.mit.edu	37	chr8	100182325	100182325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	cagtggatcttactgcttacCtgtaccagttattccctctt	6	12	2	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.chr8:100182325C>T	ENST00000358544.2	+	16	2378	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000395996.1_Missense_Mutation_p.P756L	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		Somatic				VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L	p.P756L			WXS	Illumina GAIIx	Phase_I	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	8	45	---	---	---	---	T	100182325	C	T	100182325	3	4	196	1	0	0	0	0	1	0	0	0	17187	681	24	2	2367	2	VPS13B	8	100182325	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		100182325	46181697	14	8533										
QSER1	79832	broad.mit.edu	37	chr11	32994952	32994952	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	ttgttttccagaatgctttgGaaagttttcctgaactaaca	7	7	0	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.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		Somatic				QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	p.E1610Q	NM_001076786.1	NP_001070254.1	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	C	32994952	G	C	32994952	3	2	196	1	0	0	0	0	1	0	0	0	12882	1175	41	4	4862	4	QSER1	11	32994952	Missense_Mutation	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08		32994952	102011564	15	8534										
MYCBP2	23077	broad.mit.edu	37	chr13	77738587	77738587	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	atccagtattggccacacttAccaataggaagtgctaggtc	9	10	0	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.chr13:77738587A>G	ENST00000544440.2	-	43	6451		c.e43+1		MYCBP2_ENST00000407578.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000357337.6_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			Somatic				MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site		NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	G	77738587	A	G	77738587	5	3	196	1	0	0	0	0	0	0	1	0	10018	405	14	2	7651	2	MYCBP2	13	77738587	Splice_Site	SNP	A	TCGA-HC-A76X-01A-11D-A33T-08		77738587	37431291	16	8535										
CDC16	8881	broad.mit.edu	37	chr13	115016141	115016141	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tacttcacagcagcacagctGatgaaagggtacggcagagc	12	10	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.chr13:115016141G>A	ENST00000356221.3	+	12	1197	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000360383.3_Silent_p.L363L|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			Somatic				CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252458.6_Silent_p.L269L	p.L363L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	WXS	Illumina GAIIx	Phase_I	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	19	18	---	---	---	---	A	115016141	G	A	115016141	2	1	196	1	0	0	0	0	0	0	0	1	3058	1277	45	2		2	CDC16	13	115016141	Silent	SNP	G	TCGA-HC-A76X-01A-11D-A33T-08	37277554	115016141	153737	17	8536										
RYR3	6263	broad.mit.edu	37	chr15	33895402	33895402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tacttcgagctgattatcgaCcaggtggaccccttcctaac	8	13	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.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		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	p.D667E	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	37	91	---	---	---	---	A	33895402	C	A	33895402	3	1	196	1	0	0	0	0	1	0	0	0	13770	506	18	3	2071	3	RYR3	15	33895402	Missense_Mutation	SNP	C	TCGA-HC-A76X-01A-11D-A33T-08		33895402	68635990	18	8537										
PAQR5	54852	broad.mit.edu	37	chr15	69696052	69696052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	gcccttctctttctctcagaTagctggagccatacttctgt	7	13	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.chr15:69696052T>C	ENST00000340965.3	+	9	1552	c.884T>C	c.(883-885)aTa>aCa	p.I295T	RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|Y_RNA_ENST00000384665.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T	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		Somatic				RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T	p.I295T	NM_001104554.1	NP_001098024.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---	C	69696052	T	C	69696052	3	2	196	1	0	0	0	0	1	0	0	0	11438	1406	49	2	910	2	PAQR5	15	69696052	Missense_Mutation	SNP	T	TCGA-HC-A76X-01A-11D-A33T-08	35800650	69696052	32835340	19	8538										
USP22	23326	broad.mit.edu	37	chr17	20922442	20922442	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.39359698681733	0	1.79176755447942	0.333333333333333	1	0	tctccttttcgggttgtgctTcagcagttcaagctcccgtt	9	12	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.chr17:20922442T>A	ENST00000261497.4	-	4	678	c.475A>T	c.(475-477)Aag>Tag	p.K159*	USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*|USP22_ENST00000455117.2_Intron	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*		Somatic				USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	p.K159*	NM_015276.1	NP_056091.1	WXS	Illumina GAIIx	Phase_I	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	51	78	---	---	---	---	A	20922442	T	A	20922442	4	1	196	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	20	8539										
EFNA3	1944	broad.mit.edu	37	chr1	155057707	155057707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	agagcagtacgtgctgtacaTggtgagccgcaacggctacc	13	11	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.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		Somatic				EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T	p.M90T	NM_004952.4	NP_004943.1	WXS	Illumina GAIIx	Phase_I	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	5	19	---	---	---	---	C	155057707	T	C	155057707	3	2	197	1	0	0	0	0	1	0	0	0	4952	1464	51	2	275	2	EFNA3	1	155057707	Missense_Mutation	SNP	T	TCGA-HC-A8CY-01A-11D-A364-08		155057707	94192914	1	8540										
STAT1	6772	broad.mit.edu	37	chr2	191851586	191851586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	actgatgtccctaccaggtgCcgaaattcagccgccagact	9	14	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.chr2:191851586C>T	ENST00000361099.3	-	14	1602	c.1215G>A	c.(1213-1215)cgG>cgA	p.R405R	STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000540176.1_3'UTR|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			Somatic				STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000392322.3_Silent_p.R405R	p.R405R	NM_007315.3	NP_009330.1	WXS	Illumina GAIIx	Phase_I	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	4	214	---	---	---	---	T	191851586	C	T	191851586	2	4	197	1	0	0	0	0	0	0	0	1	15263	726	26	2		2	STAT1	2	191851586	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		191851586	51347787	2	8541										
MAP2	4133	broad.mit.edu	37	chr2	210560413	210560413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	gtcaaattgtcagtggaaatAccttgcccacctgctgtttc	8	11	2	0	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		Somatic				MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.I1173M	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	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	21	33	---	---	---	---	G	210560413	A	G	210560413	3	3	197	1	0	0	0	0	1	0	0	0	9235	381	14	2	3533	2	MAP2	2	210560413	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	18708827	210560413	32638960	3	8542										
GRIP2	80852	broad.mit.edu	37	chr3	14545076	14545076	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	cagggcaggcagccatacctCcagttccctcagcagctctg	10	16	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	5	12	---	---	---	---	A	14545076	C	A	14545076	1	1	197	0	1	0	0	0	0	0	0	0	6788	864	30	3		3	GRIP2	3	14545076	RNA	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		14545076	183477354	4	8543										
ATP2C1	27032	broad.mit.edu	37	chr3	130698121	130698121	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	ttggcttctggtcctgaactGggacagctgacatttcttgg	12	9	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.chr3:130698121G>T	ENST00000510168.1	+	19	2149	c.1599G>T	c.(1597-1599)ctG>ctT	p.L533L	ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000359644.3_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000328560.8_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			Somatic				ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000359644.3_Silent_p.L533L	p.L533L			WXS	Illumina GAIIx	Phase_I	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	17	111	---	---	---	---	T	130698121	G	T	130698121	2	4	197	1	0	0	0	0	0	0	0	1	1143	1335	47	1		1	ATP2C1	3	130698121	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	116153045	130698121	67324309	5	8544										
ZBBX	79740	broad.mit.edu	37	chr3	167045902	167045902	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	cttttcatcgttgtaatttcTacctaattaaaaggatacat	4	7	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.chr3:167045902T>C	ENST00000392766.2	-	11	1030	c.690A>G	c.(688-690)gtA>gtG	p.V230V	ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000307529.5_Silent_p.V230V	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			Somatic				ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.V230V	p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	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	34	86	---	---	---	---	C	167045902	T	C	167045902	2	2	197	1	0	0	0	0	0	0	0	1	17513	1509	53	2		2	ZBBX	3	167045902	Silent	SNP	T	TCGA-HC-A8CY-01A-11D-A364-08	36347781	167045902	30976528	6	8545										
SORCS2	57537	broad.mit.edu	37	chr4	7741958	7741958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	ggcgtggtcctgagcatcaaCtcccgagagatgcacagcta	12	12	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.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			Somatic				SORCS2_ENST00000329016.9_Silent_p.N992N	p.N1149N	NM_020777.2	NP_065828.2	WXS	Illumina GAIIx	Phase_I	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	7	9	---	---	---	---	T	7741958	C	T	7741958	2	4	197	1	0	0	0	0	0	0	0	1	14931	564	20	2		2	SORCS2	4	7741958	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		7741958	183412318	7	8546										
GZMK	3003	broad.mit.edu	37	chr5	54327292	54327292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	atgcaaggttactggctgggGagccaccgatccagattcat	12	10	1	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.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_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_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		Somatic				CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	p.G155E	NM_002104.2	NP_002095.1	WXS	Illumina GAIIx	Phase_I	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	22	49	---	---	---	---	A	54327292	G	A	54327292	3	1	197	1	0	0	0	0	1	0	0	0	6918	1174	41	2	478	2	GZMK	5	54327292	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		54327292	126587968	8	8547										
FTMT	94033	broad.mit.edu	37	chr5	121187964	121187964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	tccatggcctattacttctcCcgggatgacgtggccttgaa	10	12	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.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			Somatic					p.S102S	NM_177478.1	NP_803431.1	WXS	Illumina GAIIx	Phase_I	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	4	47	---	---	---	---	T	121187964	C	T	121187964	2	4	197	1	0	0	0	0	0	0	0	1	6085	610	22	2		2	FTMT	5	121187964	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	66860672	121187964	59727296	9	8548										
AMZ1	155185	broad.mit.edu	37	chr7	2752291	2752291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	agcgggaagtggcagaggagGacctggtgcaggtggacaga	20	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.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		Somatic				AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	p.D426Y	NM_133463.1	NP_597720.1	WXS	Illumina GAIIx	Phase_I	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	20	6	---	---	---	---	T	2752291	G	T	2752291	3	4	197	1	0	0	0	0	1	0	0	0	596	1174	41	3	1298	3	AMZ1	7	2752291	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		2752291	156386372	10	8549										
CA9	768	broad.mit.edu	37	chr9	35676348	35676348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	gagttgacgaggccttggggCgcccgggaggcctggccgtg	20	11	0	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.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		Somatic				CA9_ENST00000493245.1_Intron	p.R268C	NM_001216.2	NP_001207.2	WXS	Illumina GAIIx	Phase_I	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	5	151	---	---	---	---	T	35676348	C	T	35676348	3	4	197	1	0	0	0	0	1	0	0	0	2524	768	27	2	820	2	CA9	9	35676348	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		35676348	105537083	11	8550										
IFIT2	3433	broad.mit.edu	37	chr10	91066938	91066938	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	accagaaatcaagggagaaaGaaaagatgaaagacaaactg	10	5	1	6			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		Somatic				LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.E409K	NM_001547.4	NP_001538.4	WXS	Illumina GAIIx	Phase_I	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	30	60	---	---	---	---	A	91066938	G	A	91066938	3	1	197	1	0	0	0	0	1	0	0	0	7523	943	33	2	1231	2	IFIT2	10	91066938	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		91066938	44467809	12	8551										
NELL1	4745	broad.mit.edu	37	chr11	20869195	20869195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	cactacatacacaatgggaaGccaaggacagaggcacttcc	9	12	0	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.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			Somatic				NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.K134K|NELL1_ENST00000532434.1_Silent_p.K134K	p.K162K			WXS	Illumina GAIIx	Phase_I	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	13	24	---	---	---	---	A	20869195	G	A	20869195	2	1	197	1	0	0	0	0	0	0	0	1	10333	962	34	2		2	NELL1	11	20869195	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		20869195	114137321	13	8552										
LTBP3	4054	broad.mit.edu	37	chr11	65310638	65310638	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	aaagacatctgtaggagccaTtggtattgatgcagtcaccc	10	9	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.chr11:65310638T>G	ENST00000301873.5	-	18	2802	c.2534A>C	c.(2533-2535)aAt>aCt	p.N845T	LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T	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		Somatic				LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR	p.N845T	NM_001130144.2	NP_001123616.1	WXS	Illumina GAIIx	Phase_I	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	5	74	---	---	---	---	G	65310638	T	G	65310638	3	3	197	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	14	8553										
PDGFD	80310	broad.mit.edu	37	chr11	103870820	103870820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	tcctctaatccaaactgattGtcaaacactagctgtatccg	5	12	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.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		Somatic				PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E	p.D90E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	WXS	Illumina GAIIx	Phase_I	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	34	55	---	---	---	---	T	103870820	G	T	103870820	3	4	197	1	0	0	0	0	1	0	0	0	11660	1368	48	3	848	3	PDGFD	11	103870820	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	38560182	103870820	31135696	15	8554										
CD163	9332	broad.mit.edu	37	chr12	7653874	7653874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	atgcgtccagaacctgcactGgaattagcccatccaggggc	11	13	0	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_ENST00000541972.1_Silent_p.S94S|CD163_ENST00000432237.2_Silent_p.S106S	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			Somatic				CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S	p.S106S	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	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	50	56	---	---	---	---	A	7653874	G	A	7653874	2	1	197	1	0	0	0	0	0	0	0	1	2967	1335	47	2		2	CD163	12	7653874	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		7653874	126198021	16	8555										
KRT86	3892	broad.mit.edu	37	chr12	52700020	52700020	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	tccaagctgggcctggacatCgagatcgccacctacaggcg	12	14	0	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_ENST00000544024.1_Silent_p.I401I|KRT86_ENST00000293525.5_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			Somatic	OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	KRT86_ENST00000423955.2_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I	p.I401I	NM_002284.3	NP_002275.1	WXS	Illumina GAIIx	Phase_I	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	40	60	---	---	---	---	T	52700020	C	T	52700020	2	4	197	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	17	8556										
WIF1	11197	broad.mit.edu	37	chr12	65461530	65461530	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	cactcgcagatgcgtctttcAttacaaaagcctccatttcg	6	13	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.chr12:65461530A>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			Somatic					p.N193N	NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	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	17	30	---	---	---	---	G	65461530	A	G	65461530	2	3	197	1	0	0	0	0	0	0	0	1	17363	214	8	2		2	WIF1	12	65461530	Silent	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	12761510	65461530	68390365	18	8557										
CGNL1	84952	broad.mit.edu	37	chr15	57731273	57731273	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	tgtggatcagttaattgaaaAatttgatcaaaaacctgggc	9	5	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.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		Somatic					p.K359T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina GAIIx	Phase_I	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	22	34	---	---	---	---	C	57731273	A	C	57731273	3	2	197	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	19	8558										
IGDCC3	9543	broad.mit.edu	37	chr15	65621731	65621731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	aagacatgggcactcactgtGggtctggggtccggctgccc	15	12	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.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			Somatic					p.P734P	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	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	6	112	---	---	---	---	A	65621731	G	A	65621731	2	1	197	1	0	0	0	0	0	0	0	1	7568	1335	47	2		2	IGDCC3	15	65621731	Silent	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08	7890458	65621731	36909661	20	8559										
KIAA0753	9851	broad.mit.edu	37	chr17	6513363	6513363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	gtttgggggtatccatggtgCcttgcggtctttcacaggct	14	9	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.chr17:6513363C>T	ENST00000361413.3	-	9	2021	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_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		Somatic				KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	p.A555T	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	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	11	108	---	---	---	---	T	6513363	C	T	6513363	3	4	197	1	0	0	0	0	1	0	0	0	8191	739	26	2	1284	2	KIAA0753	17	6513363	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08		6513363	74681847	21	8560										
RAD51L3	5892	broad.mit.edu	37	chr17	33430506	33430506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	acctcccagaagtggggaaaCcaccgcagtgaccgagtcca	11	14	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.chr17:33430506C>T	ENST00000345365.6	-	7	889	c.634G>A	c.(634-636)Gtt>Att	p.V212I	RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I	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		Somatic				RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I	p.V212I	NM_002878.3	NP_002869.3	WXS	Illumina GAIIx	Phase_I	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	13	22	---	---	---	---	T	33430506	C	T	33430506	3	4	197	1	0	0	0	0	1	0	0	0	12990	507	18	2	368	2	RAD51L3	17	33430506	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	26917143	33430506	47764704	22	8561										
ZNF652	22834	broad.mit.edu	37	chr17	47394509	47394509	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	gcggcaacagaggcagctctCctggttctcctttgtgtaac	11	12	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.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		Somatic				ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	p.R193S	NM_014897.2	NP_055712.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	G	47394509	C	G	47394509	3	3	197	1	0	0	0	0	1	0	0	0	18062	854	30	4	1261	4	ZNF652	17	47394509	Missense_Mutation	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	13964003	47394509	33800701	23	8562										
MUC16	94025	broad.mit.edu	37	chr19	9046680	9046680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	ctctggttcaccaggagaagGagtcaaagttggaatagctg	13	7	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.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		Somatic					p.P11651S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	9	116	---	---	---	---	A	9046680	G	A	9046680	3	1	197	1	0	0	0	0	1	0	0	0	9973	1174	41	2	8892	2	MUC16	19	9046680	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		9046680	50082303	24	8563										
ZNF536	9745	broad.mit.edu	37	chr19	30935474	30935474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	gcccagggccagggccccaaCggcggtggcgagcagtcggc	18	15	0	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			Somatic					p.N335N	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	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	6	137	---	---	---	---	T	30935474	C	T	30935474	2	4	197	1	0	0	0	0	0	0	0	1	17971	535	19	2		2	ZNF536	19	30935474	Silent	SNP	C	TCGA-HC-A8CY-01A-11D-A364-08	21888794	30935474	28193509	25	8564										
EPN1	29924	broad.mit.edu	37	chr19	56206217	56206217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	ctgcagccacaccaactcccAcgccccccacccggaagacg	7	22	0	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.chr19:56206217A>G	ENST00000270460.6	+	10	1701	c.1390A>G	c.(1390-1392)Acg>Gcg	p.T464A	EPN1_ENST00000411543.2_Missense_Mutation_p.T550A|AC010525.6_ENST00000587937.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|AC010525.7_ENST00000589698.1_lincRNA|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		Somatic				EPN1_ENST00000270460.6_Missense_Mutation_p.T464A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A	p.T550A	NM_001130071.1	NP_001123543.1	WXS	Illumina GAIIx	Phase_I	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	10	11	---	---	---	---	G	56206217	A	G	56206217	3	3	197	1	0	0	0	0	1	0	0	0	5185	159	6	2	1765	2	EPN1	19	56206217	Missense_Mutation	SNP	A	TCGA-HC-A8CY-01A-11D-A364-08	25270743	56206217	2922766	26	8565										
VAPB	9217	broad.mit.edu	37	chr20	56993284	56993284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	caggtcccttcaccgatgttGtcaccaccaacctaaagctt	6	15	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.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		Somatic				VAPB_ENST00000395802.3_Missense_Mutation_p.V26I|VAPB_ENST00000265619.2_3'UTR	p.V26I	NM_004738.4	NP_004729.1	WXS	Illumina GAIIx	Phase_I	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	4	116	---	---	---	---	A	56993284	G	A	56993284	3	1	197	1	0	0	0	0	1	0	0	0	17119	1377	48	2	82	2	VAPB	20	56993284	Missense_Mutation	SNP	G	TCGA-HC-A8CY-01A-11D-A364-08		56993284	6032236	27	8566										
FMR1NB	158521	broad.mit.edu	37	chrX	147084823	147084824	+	Frame_Shift_Ins	INS	-	-	T													0.0357142857142857	1	1	0.564365671641791	0	0.601990049751244	1	1	0	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.(379-384)aattttfs		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		Somatic					p.NF127fs	NM_152578.2	NP_689791.1	WXS	Illumina GAIIx	Phase_I	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	197	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		147084823	8185737	28	8567										
ITIH4	3700	broad.mit.edu	37	chr3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gagtgacctcctccacggcaTtgcttgggtactcgaaggtc	12	12	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.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	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|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'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		Somatic				ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S	p.N472S	NM_002218.4	NP_002209.2	WXS	Illumina GAIIx	Phase_I	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	11	73	---	---	---	---	C	52857696	T	C	52857696	3	2	198	1	0	0	0	0	1	0	0	0	7906	1493	52	2	1433	2	ITIH4	3	52857696	Missense_Mutation	SNP	T	TCGA-HC-A8D0-01A-11D-A364-08		52857696	145164734	1	8568										
PEX5L	51555	broad.mit.edu	37	chr3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gcctgggttatcccgaggaaCtgccatgcctacgaaagaca	11	12	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.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_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H	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		Somatic				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_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	p.Q364H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	WXS	Illumina GAIIx	Phase_I	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	9	65	---	---	---	---	A	179529651	C	A	179529651	3	1	198	1	0	0	0	0	1	0	0	0	11749	564	20	3	808	3	PEX5L	3	179529651	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	126671955	179529651	18492779	2	8569										
CRIPAK	285464	broad.mit.edu	37	chr4	1389214	1389214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	tgcccgcctgctcacacgtgCcgacgtggagtgcccgcctg	13	17	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.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			Somatic					p.C305C	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	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	5	228	---	---	---	---	T	1389214	C	T	1389214	2	4	198	1	0	0	0	0	0	0	0	1	3877	747	26	2		2	CRIPAK	4	1389214	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		1389214	189765062	3	8570										
MTTP	4547	broad.mit.edu	37	chr4	100543849	100543849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	tacaggcaatttgagaaaaaGtacgaaaggctgtccacagg	11	7	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.chr4:100543849G>A	ENST00000265517.5	+	18	2732	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	MTTP_ENST00000511045.1_Silent_p.K870K|MTTP_ENST00000457717.1_Silent_p.K843K|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			Somatic				RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K	p.K843K	NM_000253.2	NP_000244.2	WXS	Illumina GAIIx	Phase_I	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	13	46	---	---	---	---	A	100543849	G	A	100543849	2	1	198	1	0	0	0	0	0	0	0	1	9964	1020	36	2		2	MTTP	4	100543849	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08	99154635	100543849	90610427	4	8571										
PCDHA12	56137	broad.mit.edu	37	chr5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gcccaccgtgagccggtgcgCgccgggcaagcccacgctgg	16	17	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.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_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	56137							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		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.A733V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	8	24	---	---	---	---	T	140257255	C	T	140257255	3	4	198	1	0	0	0	0	1	0	0	0	11522	768	27	2	2200	2	PCDHA12	5	140257255	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		140257255	40658005	5	8572										
PCDHB12	56124	broad.mit.edu	37	chr5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	ccctgcaggggttccagttcCgcgtgggcgccacagaccac	13	16	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.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	56124				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		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	p.R530C	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	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	22	59	---	---	---	---	T	140590067	C	T	140590067	3	4	198	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	6	8573										
CACNA2D1	781	broad.mit.edu	37	chr7	81667507	81667507	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	ttatttcttacatttgcttgGacaaggtgctgaaaacagct	8	7	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.chr7:81667507G>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			Somatic				CACNA2D1_ENST00000356253.5_Silent_p.V308V	p.V308V	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	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	4	86	---	---	---	---	A	81667507	G	A	81667507	2	1	198	1	0	0	0	0	0	0	0	1	2548	1161	41	2		2	CACNA2D1	7	81667507	Silent	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		81667507	77471156	7	8574										
MUC17	140453	broad.mit.edu	37	chr7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	ctgctgatggtaccagcatgCcaaccccagcttatagtgaa	9	12	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.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		Somatic					p.P1976S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	6	362	---	---	---	---	T	100680623	C	T	100680623	3	4	198	1	0	0	0	0	1	0	0	0	9974	739	26	2	5936	2	MUC17	7	100680623	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	19013116	100680623	58458040	8	8575										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519011	113519011	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	tgatcagctagagaagacagTtcacagcacactgtttcttg	9	9	3	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.chr7:113519011T>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			Somatic					p.E712E	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	24	156	---	---	---	---	C	113519011	T	C	113519011	2	2	198	1	0	0	0	0	0	0	0	1	12371	1722	60	2		2	PPP1R3A	7	113519011	Silent	SNP	T	TCGA-HC-A8D0-01A-11D-A364-08	12838388	113519011	45619652	9	8576										
ADCK2	90956	broad.mit.edu	37	chr7	140373323	140373323	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gtgagggggcccctgacgttCtgagtcggcgaagggtccgc	18	11	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.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			Somatic				ADCK2_ENST00000476491.1_Silent_p.L65L	p.L65L	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	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	4	16	---	---	---	---	T	140373323	C	T	140373323	2	4	198	1	0	0	0	0	0	0	0	1	289	912	32	2		2	ADCK2	7	140373323	Silent	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	26854312	140373323	18765340	10	8577										
CNTNAP2	26047	broad.mit.edu	37	chr7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	tacaagttacctggaggtgcCcggacggcttaaccaggacc	12	12	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.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)	Somatic					p.P387L	NM_014141.5	NP_054860.1	WXS	Illumina GAIIx	Phase_I	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	27	82	---	---	---	---	T	146829413	C	T	146829413	3	4	198	1	0	0	0	0	1	0	0	0	3647	623	22	2	1190	2	CNTNAP2	7	146829413	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08	6456090	146829413	12309250	11	8578										
OR51L1	119682	broad.mit.edu	37	chr11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	tccatcttagcagtgaatgaCctggggatgtccctgtctac	10	11	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.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		Somatic					p.D72E	NM_001004755.1	NP_001004755.1	WXS	Illumina GAIIx	Phase_I	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	4	148	---	---	---	---	A	5020428	C	A	5020428	3	1	198	1	0	0	0	0	1	0	0	0	11102	506	18	3	218	3	OR51L1	11	5020428	Missense_Mutation	SNP	C	TCGA-HC-A8D0-01A-11D-A364-08		5020428	129986088	12	8579										
MPHOSPH9	10198	broad.mit.edu	37	chr12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	aattctagaattatgacgaaGgcttaacatattttcatgtt	6	5	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.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|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		Somatic				MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F	p.L805F			WXS	Illumina GAIIx	Phase_I	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	8	66	---	---	---	---	A	123661278	G	A	123661278	3	1	198	1	0	0	0	0	1	0	0	0	9728	1000	35	2	1174	2	MPHOSPH9	12	123661278	Missense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		123661278	10190617	13	8580										
FBN3	84467	broad.mit.edu	37	chr19	8137034	8137034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gagagcagctcctctttgtcCggggtgtcctggggtccggg	17	11	1	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_ENST00000601739.1_Silent_p.P2662P|FBN3_ENST00000270509.2_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			Somatic				FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P	p.P2662P			WXS	Illumina GAIIx	Phase_I	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	10	116	---	---	---	---	T	8137034	C	T	8137034	2	4	198	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	14	8581										
TMPRSS2	7113	broad.mit.edu	37	chr21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	acacaaagagaatcctacttGaggtgcacactgtcccggat	9	11	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.chr21:42866285G>C	ENST00000332149.5	-	3	370	c.236C>G	c.(235-237)tCa>tGa	p.S79*	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Nonsense_Mutation_p.S116*|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*	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	7113				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*		Somatic				TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	p.S116*	NM_001135099.1	NP_001128571.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	C	42866285	G	C	42866285	4	2	198	1	0	0	0	0	0	1	0	0	16244	1294	45	4	1290	4	TMPRSS2	21	42866285	Nonsense_Mutation	SNP	G	TCGA-HC-A8D0-01A-11D-A364-08		42866285	5263610	15	8582										
SFRS17A	8227	broad.mit.edu	37	chrX	1712837	1712837	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.98395721925134	10.9117647058824	1.09117647058824	1	1	0	gccctgcaagtggttcgcccTgaaggagtcgggctccgaga	15	12	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.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		Somatic				AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	p.L161Q	NM_005088.2	NP_005079.2	WXS	Illumina GAIIx	Phase_I	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	23	117	---	---	---	---	A	1712837	T	A	1712837	3	1	198	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	16	8583										
SELENBP1	8991	broad.mit.edu	37	chr1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcggagctcatgggcaaggGctgggccaaggggctccttc	17	11	1	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.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_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|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		Somatic				SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V	p.A496V	NM_001258289.1	NP_001245218.1	WXS	Illumina GAIIx	Phase_I	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	4	80	---	---	---	---	A	151337077	G	A	151337077	3	1	199	1	0	0	0	0	1	0	0	0	14014	1203	42	2	61	2	SELENBP1	1	151337077	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		151337077	97913544	1	8584										
ZBTB7B	51043	broad.mit.edu	37	chr1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaggctttcgccaaggaggAccacctgcagcgccacctca	10	16	1	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.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G|ZBTB7B_ENST00000292176.2_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		Somatic				ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	p.D443G	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	G	154988869	A	G	154988869	3	3	199	1	0	0	0	0	1	0	0	0	17551	275	10	2	1334	2	ZBTB7B	1	154988869	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08	3651792	154988869	94261752	2	8585										
HOXD8	3234	broad.mit.edu	37	chr2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaagacagagccgaaggccTgacaaattaacttctacctt	9	10	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.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R|HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R	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		Somatic				HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	p.L288R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	WXS	Illumina GAIIx	Phase_I	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	7	26	---	---	---	---	G	176996330	T	G	176996330	3	3	199	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	8586										
ITGA9	3680	broad.mit.edu	37	chr3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagaaaatatcttccacacaAtatttgcttttttcacaaag	3	8	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.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		Somatic				AC093415.2_ENST00000438136.1_RNA	p.I877V	NM_002207.2	NP_002198.2	WXS	Illumina GAIIx	Phase_I	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	10	25	---	---	---	---	G	37818970	A	G	37818970	3	3	199	1	0	0	0	0	1	0	0	0	7883	101	4	2	2723	2	ITGA9	3	37818970	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		37818970	160203460	4	8587										
CP	1356	broad.mit.edu	37	chr3	148903046	148903046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctgctcttgtaaatgatgCagctccttttcccactccct	5	14	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.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			Somatic				CP_ENST00000462336.1_5'UTR	p.L755L	NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	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	4	152	---	---	---	---	T	148903046	C	T	148903046	2	4	199	1	0	0	0	0	0	0	0	1	3787	697	25	2		2	CP	3	148903046	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08	111084076	148903046	49119384	5	8588										
DHX29	54505	broad.mit.edu	37	chr5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggatgggtgtacttgtgCtttgccttgggccgtctcca	14	9	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.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		Somatic				RP11-506H20.1_ENST00000506435.1_RNA	p.A1254T	NM_019030.2	NP_061903.2	WXS	Illumina GAIIx	Phase_I	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	8	99	---	---	---	---	T	54558526	C	T	54558526	3	4	199	1	0	0	0	0	1	0	0	0	4503	797	28	2	365	2	DHX29	5	54558526	Missense_Mutation	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08		54558526	126356734	6	8589										
PCDHA5	56143	broad.mit.edu	37	chr5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctggacgagaacgacaacGcgccggcgctgctggtgcct	15	13	0	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.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_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	56143							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		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.A561T	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			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	4	79	---	---	---	---	A	140203041	G	A	140203041	3	1	199	1	0	0	0	0	1	0	0	0	11527	1087	38	2	1683	2	PCDHA5	5	140203041	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	85644515	140203041	40712219	7	8590										
HIST1H2BM	8342	broad.mit.edu	37	chr6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatcgccggagaagcgtcacGcctggcgcattacaacaagc	11	13	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.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		Somatic					p.R80P	NM_003521.2	NP_003512.1	WXS	Illumina GAIIx	Phase_I	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	16	65	---	---	---	---	C	27783060	G	C	27783060	3	2	199	1	0	0	0	0	1	0	0	0	7152	1087	38	4	241	4	HIST1H2BM	6	27783060	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		27783060	143332007	8	8591										
TRIM15	89870	broad.mit.edu	37	chr6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	aaaacttggcgcatcatctgGaaatagattcaggtaaacag	9	7	3	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.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		Somatic				TRIM15_ENST00000376688.1_Intron	p.E290K	NM_033229.2	NP_150232.2	WXS	Illumina GAIIx	Phase_I	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	16	58	---	---	---	---	A	30138773	G	A	30138773	3	1	199	1	0	0	0	0	1	0	0	0	16487	1175	41	2	890	2	TRIM15	6	30138773	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	2355713	30138773	140976294	9	8592										
NPC1L1	29881	broad.mit.edu	37	chr7	44575523	44575523	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagctggtggcaaagatgggCaggtcttcagctgtggtgcg	17	7	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	44575523	C	A	44575523	2	1	199	1	0	0	0	0	0	0	0	1	10571	697	25	3		3	NPC1L1	7	44575523	Silent	SNP	C	TCGA-HC-A8D1-01A-11D-A364-08		44575523	114563140	10	8593										
TRIM8	81603	broad.mit.edu	37	chr10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tgaagcagcaggaccggctgGaggagcgagagcaggacatt	17	8	0	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.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																																						ENST00000302424.7																			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		Somatic				TRIM8_ENST00000487927.1_3'UTR	p.E201K	NM_030912.2	NP_112174.2	WXS	Illumina GAIIx	Phase_I	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)						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	17	114	---	---	---	---	A	104414440	G	A	104414440	3	1	199	1	0	0	0	0	1	0	0	0	16545	1175	41	2	607	2	TRIM8	10	104414440	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		104414440	31120307	11	8594										
LUZP2	338645	broad.mit.edu	37	chr11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaaagtgcttctggaaacAatgagagctctcaagttgag	10	7	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.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		Somatic				LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	p.N178H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	C	25071608	A	C	25071608	3	2	199	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	12	8595										
FAT3	120114	broad.mit.edu	37	chr11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attccatttataatgctaccGtgtatgagaactcagcagca	7	9	1	1	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_ENST00000541502.1_Missense_Mutation_p.V52M|FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_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)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M	p.V52M			WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	A	92085432	G	A	92085432	3	1	199	1	0	0	0	0	1	0	0	0	5691	1145	40	2	156	2	FAT3	11	92085432	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	67013824	92085432	42921084	13	8596										
GATA6	2627	broad.mit.edu	37	chr18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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)ggcfs		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		Somatic				GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	p.G101fs	NM_005257.4	NP_005248.2	WXS	Illumina GAIIx	Phase_I	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	199	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	14	8597										
CLPTM1	1209	broad.mit.edu	37	chr19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggctgctatgccgtctacAgtcttctgtacctggagcac	11	12	3	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.chr19:45494556A>G	ENST00000337392.5	+	12	1630	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	CLPTM1_ENST00000541297.2_Missense_Mutation_p.S480G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G	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		Somatic				CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G	p.S480G			WXS	Illumina GAIIx	Phase_I	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	25	118	---	---	---	---	G	45494556	A	G	45494556	3	3	199	1	0	0	0	0	1	0	0	0	3554	188	7	2	1526	2	CLPTM1	19	45494556	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		45494556	13634427	15	8598										
SIGLEC1	6614	broad.mit.edu	37	chr20	3673297	3673297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcagctggaccctcctgcaGccaacgaccgttgtggtacc	12	15	0	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.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			Somatic				SIGLEC1_ENST00000202578.4_Silent_p.L1301L	p.L1301L	NM_023068.3	NP_075556.1	WXS	Illumina GAIIx	Phase_I	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	3	12	---	---	---	---	A	3673297	G	A	3673297	2	1	199	1	0	0	0	0	0	0	0	1	14305	962	34	2		2	SIGLEC1	20	3673297	Silent	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08		3673297	59352223	16	8599										
SEL1L2	80343	broad.mit.edu	37	chr20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttggcaaaaagtaggtagGctctgtttcaagaatataaa	9	5	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.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		Somatic				SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR	p.A130V			WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	A	13894588	G	A	13894588	3	1	199	1	0	0	0	0	1	0	0	0	14011	1203	42	2	1741	2	SEL1L2	20	13894588	Missense_Mutation	SNP	G	TCGA-HC-A8D1-01A-11D-A364-08	10221291	13894588	49130932	17	8600										
PASD1	139135	broad.mit.edu	37	chrX	150840968	150840968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtggggaatgagagggtgcAgatatgcctgcaaaacccac	14	9	0	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.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		Somatic					p.Q584R	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	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	12	17	---	---	---	---	G	150840968	A	G	150840968	3	3	199	1	0	0	0	0	1	0	0	0	11471	188	7	2	1801	2	PASD1	23	150840968	Missense_Mutation	SNP	A	TCGA-HC-A8D1-01A-11D-A364-08		150840968	4429592	18	8601										
SPTA1	6708	broad.mit.edu	37	chr1	158639553	158639553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	taatggtcatcaccaatcaaTttggttgcagtcttgtctac	7	9	5	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.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																																						ENST00000368147.4																			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			Somatic					p.K541K	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			13	1803	-	all_hematologic(112;0.0378)							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	103	170	---	---	---	---	C	158639553	T	C	158639553	2	2	200	1	0	0	0	0	0	0	0	1	15115	1490	52	2		2	SPTA1	1	158639553	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08		158639553	90611068	1	8602										
PDIA6	10130	broad.mit.edu	37	chr2	10929048	10929048	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tcaaggatatggggcagcacAgccacaacacagagctggtg	13	10	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.chr2:10929048A>T	ENST00000272227.3	-	9	1047	c.900T>A	c.(898-900)gcT>gcA	p.A300A	PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000404371.2_Silent_p.A352A|PDIA6_ENST00000404824.2_Silent_p.A348A	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			Somatic				PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000540494.1_Silent_p.A297A	p.A352A	NM_001282704.1	NP_001269633.1	WXS	Illumina GAIIx	Phase_I	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	50	81	---	---	---	---	T	10929048	A	T	10929048	2	4	200	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	8603										
CD207	50489	broad.mit.edu	37	chr2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ggaccttgttgaatggcgtgTcatccacccaggaccagtcc	11	13	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.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		Somatic					p.D269G	NM_015717.3	NP_056532	WXS	Illumina GAIIx	Phase_I	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	33	30	---	---	---	---	C	71058862	T	C	71058862	3	2	200	1	0	0	0	0	1	0	0	0	2983	1667	58	2	188	2	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	60129814	71058862	172140511	3	8604										
DGUOK	1716	broad.mit.edu	37	chr2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	acgaaaacttacccagaatgGcacgtagctacagaacctgt	8	11	0	2	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_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C|DGUOK_ENST00000462685.1_Intron	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		Somatic				DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	p.W65C	NM_080916.2	NP_550438.1	WXS	Illumina GAIIx	Phase_I	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	4	62	---	---	---	---	T	74166089	G	T	74166089	3	4	200	1	0	0	0	0	1	0	0	0	4475	1212	42	3	201	3	DGUOK	2	74166089	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3107227	74166089	169033284	4	8605										
REV1	51455	broad.mit.edu	37	chr2	100055181	100055181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	acaaactcagtcaattcacaCttccacattgatatgtgatg	5	10	3	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.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	18	137	---	---	---	---	T	100055181	C	T	100055181	2	4	200	1	0	0	0	0	0	0	0	1	13239	564	20	2		2	REV1	2	100055181	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	25889092	100055181	143144192	5	8606										
RBM44	375316	broad.mit.edu	37	chr2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	cctggacctctgtttttgatGattcgataatttctgcctgt	8	9	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.chr2:238726721G>T	ENST00000409864.1	+	3	1416	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.D388Y			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		Somatic				RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron	p.D388Y	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	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	15	49	---	---	---	---	T	238726721	G	T	238726721	3	4	200	1	0	0	0	0	1	0	0	0	13138	1290	45	3	1168	3	RBM44	2	238726721	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	138671540	238726721	4472652	6	8607										
EPHA3	2042	broad.mit.edu	37	chr3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ctataagtcaaaacatggggCagatgaaaaaagacttcatt	8	6	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.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)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	p.A576E	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	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	21	131	---	---	---	---	A	89457246	C	A	89457246	3	1	200	1	0	0	0	0	1	0	0	0	5168	710	25	3	1787	3	EPHA3	3	89457246	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08		89457246	108565184	7	8608										
UBE2D3	7323	broad.mit.edu	37	chr4	103720584	103720584	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ttatctctgtctgttttataGatccgtgcaatctctggcac	7	10	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.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000338145.3_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			Somatic				UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I	p.I126I	NM_181891.1	NP_871620.1	WXS	Illumina GAIIx	Phase_I	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	9	37	---	---	---	---	T	103720584	G	T	103720584	2	4	200	1	0	0	0	0	0	0	0	1	16847	932	33	3		3	UBE2D3	4	103720584	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		103720584	87433692	8	8609										
CENPE	1062	broad.mit.edu	37	chr4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ctttccttccaagttttgacCtcattggaaagatgctgatt	7	9	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.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		Somatic				CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	p.E2583D	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	A	104030222	C	A	104030222	3	1	200	1	0	0	0	0	1	0	0	0	3230	680	24	1	364	1	CENPE	4	104030222	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	309638	104030222	87124054	9	8610										
TNXB	7148	broad.mit.edu	37	chr6	32036414	32036414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gcatctgtcacggtcagctcCcccaggcgaggcttgatggg	14	13	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.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			Somatic				TNXB_ENST00000375247.2_Silent_p.G1991G	p.G1991G			WXS	Illumina GAIIx	Phase_I	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	7	76	---	---	---	---	T	32036414	C	T	32036414	2	4	200	1	0	0	0	0	0	0	0	1	16343	610	22	2		2	TNXB	6	32036414	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08		32036414	139078653	10	8611										
MOXD1	26002	broad.mit.edu	37	chr6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gaaggcgatctggctgccccGctggctccagcccagccagt	13	16	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		Somatic				MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	p.R44W	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	A	132722436	G	A	132722436	3	1	200	1	0	0	0	0	1	0	0	0	9720	1086	38	2	1759	2	MOXD1	6	132722436	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	100686022	132722436	38392631	11	8612										
ARID1B	57492	broad.mit.edu	37	chr6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T													0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	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_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000346085.5_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		Somatic				ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L	p.P576L	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	T	157150545	C	T	157150545	3	4	200	1	0	0	0	0	1	0	0	0	914	681	24	2	1733	2	ARID1B	6	157150545	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	24428109	157150545	13964522	12	8613	14	2								
ARID1B	57492	broad.mit.edu	37	chr6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T													0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	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_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000346085.5_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*		Somatic				ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*	p.Q578*	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	T	157150550	C	T	157150550	4	4	200	1	0	0	0	0	0	1	0	0	914	711	25	2	1738	2	ARID1B	6	157150550	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	5	157150550	13964517	13	8614	14	2								
FAM126A	84668	broad.mit.edu	37	chr7	22985646	22985646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	cgtctgtggttctttcctatActtggcttgttactacaatt	7	9	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.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'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			Somatic				FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	p.S376S	NM_032581.3	NP_115970.2	WXS	Illumina GAIIx	Phase_I	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	67	139	---	---	---	---	G	22985646	A	G	22985646	2	3	200	1	0	0	0	0	0	0	0	1	5429	388	14	2		2	FAM126A	7	22985646	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08		22985646	136153017	14	8615										
DGKI	9162	broad.mit.edu	37	chr7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ttactggcttttcttttaaaGcttgttctcttcttcttccg	5	10	4	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.chr7:137294314G>T	ENST00000288490.5	-	9	1035	c.1035C>A	c.(1033-1035)agC>agA	p.S345R	DGKI_ENST00000453654.2_Missense_Mutation_p.S45R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R	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																																						ENST00000453654.2																			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.(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		Somatic				DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R	p.S45R			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			9	674	-								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	8	42	---	---	---	---	T	137294314	G	T	137294314	3	4	200	1	0	0	0	0	1	0	0	0	4471	962	34	3	2266	3	DGKI	7	137294314	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	114308668	137294314	21844349	15	8616										
OLFM1	10439	broad.mit.edu	37	chr9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tggttgacttcatgaacacgGacaatttcacctcccaccgt	7	13	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.chr9:138011425G>A	ENST00000371793.3	+	6	1110	c.859G>A	c.(859-861)Gac>Aac	p.D287N	OLFM1_ENST00000252854.4_Missense_Mutation_p.D269N|OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N	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		Somatic				OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	p.D269N	NM_014279.4	NP_055094.1	WXS	Illumina GAIIx	Phase_I	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	32	60	---	---	---	---	A	138011425	G	A	138011425	3	1	200	1	0	0	0	0	1	0	0	0	10852	1174	41	2	837	2	OLFM1	9	138011425	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		138011425	3202006	16	8617										
ZNF33A	7581	broad.mit.edu	37	chr10	38343826	38343826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tttgggagaactttgtgtgaTagttcatccctcttgttcca	9	8	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.chr10:38343826T>C	ENST00000458705.2	+	5	929	c.771T>C	c.(769-771)gaT>gaC	p.D257D	ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000374618.3_Silent_p.D258D|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			Somatic				ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D	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	WXS	Illumina GAIIx	Phase_I	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	11	64	---	---	---	---	C	38343826	T	C	38343826	2	2	200	1	0	0	0	0	0	0	0	1	17851	1403	49	2		2	ZNF33A	10	38343826	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08		38343826	97190921	17	8618										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	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_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	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)	Somatic				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	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	37	91	---	---	---	---	C	533874	T	C	533874	3	2	200	1	0	0	0	0	1	0	0	0	7348	1580	55	2	466	2	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08		533874	134472642	18	8619										
OR5L1	219437	broad.mit.edu	37	chr11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	acaaagccttctccacctgtGcttcccacctcacagctatc	4	18	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.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		Somatic					p.A242S	NM_001004738.1	NP_001004738.1	WXS	Illumina GAIIx	Phase_I	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	25	109	---	---	---	---	T	55579666	G	T	55579666	3	4	200	1	0	0	0	0	1	0	0	0	11170	1319	46	3	726	3	OR5L1	11	55579666	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	55045792	55579666	79426850	19	8620										
NALCN	259232	broad.mit.edu	37	chr13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	aattctggtccttggcagttCaaatcggaaataaatccgga	9	8	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.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q	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		Somatic				NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q	p.E161Q	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	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	11	60	---	---	---	---	G	102029302	C	G	102029302	3	3	200	1	0	0	0	0	1	0	0	0	10148	835	29	4	4895	4	NALCN	13	102029302	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08		102029302	13140576	20	8621										
SNW1	22938	broad.mit.edu	37	chr14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tgcattcataacctcctttgGaaccaggtcagtgtatttgc	8	10	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.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_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		Somatic				SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	p.P121S	NM_012245.2	NP_036377.1	WXS	Illumina GAIIx	Phase_I	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	30	346	---	---	---	---	A	78205374	G	A	78205374	3	1	200	1	0	0	0	0	1	0	0	0	14879	1174	41	2	1293	2	SNW1	14	78205374	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		78205374	29144166	21	8622										
DLL4	54567	broad.mit.edu	37	chr15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	aggaaagtttccccacagtgAcaagagcttaggagagaagg	13	7	0	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.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		Somatic					p.D635A	NM_019074.3	NP_061947.1	WXS	Illumina GAIIx	Phase_I	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	17	7	---	---	---	---	C	41229089	A	C	41229089	3	2	200	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	22	8623										
C15orf33	196951	broad.mit.edu	37	chr15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gtttccagtggatccaaaagCctttttgaggttttaaacct	8	8	0	1	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		Somatic				FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	p.G298V	NM_152647.2	NP_689860.2	WXS	Illumina GAIIx	Phase_I					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	24	35	---	---	---	---	A	49800527	C	A	49800527	3	1	200	1	0	0	0	0	1	0	0	0	1791	739	26	3	657	3	C15orf33	15	49800527	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	8571438	49800527	52730865	23	8624										
TELO2	9894	broad.mit.edu	37	chr16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	acttcttcttccccctccttCagcgctttgacaggtgagtg	8	14	3	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.chr16:1556317C>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*		Somatic				TELO2_ENST00000564507.1_3'UTR	p.Q705*	NM_016111.3	NP_057195.2	WXS	Illumina GAIIx	Phase_I	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	10	82	---	---	---	---	T	1556317	C	T	1556317	4	4	200	1	0	0	0	0	0	1	0	0	15754	827	29	2	2175	2	TELO2	16	1556317	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08		1556317	88798436	24	8625										
PAQR4	124222	broad.mit.edu	37	chr16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gcctgcgcagcctcttctacCtgcacaacgaactgggcaac	9	16	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.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V	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		Somatic				PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PKMYT1_ENST00000571102.1_Intron	p.L45V	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	WXS	Illumina GAIIx	Phase_I	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	3	38	---	---	---	---	G	3019808	C	G	3019808	3	3	200	1	0	0	0	0	1	0	0	0	11437	680	24	4	135	4	PAQR4	16	3019808	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	1463491	3019808	87334945	25	8626										
PAQR4	124222	broad.mit.edu	37	chr16	3021853	3021853	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tggggcaactcccaccagatCatgcacctgctgagcgtggg	13	13	1	2	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	PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.I203I|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.I168I	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			Somatic				PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000574988.1_Silent_p.I175I	p.I242I	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	WXS	Illumina GAIIx	Phase_I	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	7	39	---	---	---	---	T	3021853	C	T	3021853	2	4	200	1	0	0	0	0	0	0	0	1	11437	816	29	2		2	PAQR4	16	3021853	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	2045	3021853	87332900	26	8627										
COQ7	10229	broad.mit.edu	37	chr16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ggccggatgcagagtggcgaTatatttatcagaaagattat	12	5	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.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		Somatic				COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T	p.I211T	NM_016138.4	NP_057222.2	WXS	Illumina GAIIx	Phase_I	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	8	47	---	---	---	---	C	19089458	T	C	19089458	3	2	200	1	0	0	0	0	1	0	0	0	3750	1406	49	2	654	2	COQ7	16	19089458	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	16067605	19089458	71265295	27	8628										
USP31	57478	broad.mit.edu	37	chr16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ggctggtgacagaagatctgGatgacaaactctgacgctgg	14	8	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.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		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.S141F	p.S848F	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	A	23080883	G	A	23080883	3	1	200	1	0	0	0	0	1	0	0	0	17059	1174	41	2	1519	2	USP31	16	23080883	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3991425	23080883	67273870	28	8629										
SCNN1B	6338	broad.mit.edu	37	chr16	23364121	23364121	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	accagccctctccccatccaGgtattccaaaatcaagcatt	4	16	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.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_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	6338				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			Somatic				SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site		NM_000336.2	NP_000327.2	WXS	Illumina GAIIx	Phase_I	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	8	104	---	---	---	---	T	23364121	G	T	23364121	5	4	200	1	0	0	0	0	0	0	1	0	13928	1014	35	1	317	1	SCNN1B	16	23364121	Splice_Site	SNP	G	TCGA-HI-7168-01A-11D-2114-08	283238	23364121	66990632	29	8630										
ITGA2B	3674	broad.mit.edu	37	chr17	42455141	42455141	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ttctccttcttctgattacaGatgagtctctcaaagccctt	5	12	5	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.chr17:42455141G>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			Somatic				ITGA2B_ENST00000353281.4_Silent_p.I704I	p.I704I	NM_000419.3	NP_000410.2	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	T	42455141	G	T	42455141	2	4	200	1	0	0	0	0	0	0	0	1	7876	932	33	3		3	ITGA2B	17	42455141	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		42455141	38740069	30	8631										
MKS1	54903	broad.mit.edu	37	chr17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gtgaagtcaggctttactgtGatcacaccattgctatccac	8	11	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.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000313863.6_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		Somatic				MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M	p.I236M	NM_017777.3	NP_060247.2	WXS	Illumina GAIIx	Phase_I	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	28	37	---	---	---	---	C	56291167	G	C	56291167	3	2	200	1	0	0	0	0	1	0	0	0	9609	1280	45	4	1019	4	MKS1	17	56291167	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	13836026	56291167	24904043	31	8632										
PRKCA	5578	broad.mit.edu	37	chr17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	cttattcctgatcccaagaaTgaaagcaagcaaaaaaccaa	5	10	0	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.chr17:64683317T>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		Somatic					p.N206K	NM_002737.2	NP_002728	WXS	Illumina GAIIx	Phase_I	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	62	124	---	---	---	---	A	64683317	T	A	64683317	3	1	200	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	32	8633										
ABCA5	23461	broad.mit.edu	37	chr17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	aagttaaaatacttacagatGataatccataaaggaaaaaa	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.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L|ABCA5_ENST00000588877.1_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		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L	p.S309L			WXS	Illumina GAIIx	Phase_I	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	5	34	---	---	---	---	A	67300814	G	A	67300814	3	1	200	1	0	0	0	0	1	0	0	0	35	1294	45	2	4134	2	ABCA5	17	67300814	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	2617497	67300814	13894396	33	8634			1	16		4	4	8492	G		2.023096e-07
ABCA5	23461	broad.mit.edu	37	chr17	67300891	67300891	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	aacaaagaagctgtcgcaatGactgccataagaagggacat	10	8	0	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.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000392677.2_Silent_p.V283V|ABCA5_ENST00000588877.1_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			Somatic				ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V	p.V283V			WXS	Illumina GAIIx	Phase_I	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	13	73	---	---	---	---	C	67300891	G	C	67300891	2	2	200	1	0	0	0	0	0	0	0	1	35	1277	45	4		4	ABCA5	17	67300891	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	77	67300891	13894319	34	8635			1	16		4	4	8492	G		2.023096e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	gctcacaataccatcaggtaGatgatcagtagacactttct	7	10	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.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V|ABCA5_ENST00000588877.1_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		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V	p.L100V			WXS	Illumina GAIIx	Phase_I	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	8	69	---	---	---	---	C	67309242	G	C	67309242	3	2	200	1	0	0	0	0	1	0	0	0	35	933	33	4	4778	4	ABCA5	17	67309242	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	8351	67309242	13885968	35	8636			1	16		4	4	8492	G		2.023096e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	agtcactggagtatatccaaGaattagattagaaagagtaa	9	4	1	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.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V|ABCA5_ENST00000588877.1_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		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V	p.L79V			WXS	Illumina GAIIx	Phase_I	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	7	66	---	---	---	---	C	67309305	G	C	67309305	3	2	200	1	0	0	0	0	1	0	0	0	35	942	33	4	4841	4	ABCA5	17	67309305	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	63	67309305	13885905	36	8637			1	16		4	4	8492	G		2.023096e-07
RAB37	326624	broad.mit.edu	37	chr17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	ctcccgggcaggagtacggtGttcccttcctggagaccagc	13	14	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.chr17:72741156G>A	ENST00000392613.5	+	8	555	c.499G>A	c.(499-501)Gtt>Att	p.V167I	RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000340415.3_Missense_Mutation_p.V160I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I	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		Somatic	OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I	p.V160I	NM_175738.4	NP_783865.1	WXS	Illumina GAIIx	Phase_I	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	7	65	---	---	---	---	A	72741156	G	A	72741156	3	1	200	1	0	0	0	0	1	0	0	0	12927	1377	48	2	832	2	RAB37	17	72741156	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	5431851	72741156	8454054	37	8638										
PGLYRP2	114770	broad.mit.edu	37	chr19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	tatctgcagtggtgacatctGgagagccatccctgagtcct	11	11	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.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		Somatic				PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q	p.P178Q			WXS	Illumina GAIIx	Phase_I	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	7	127	---	---	---	---	T	15586948	G	T	15586948	3	4	200	1	0	0	0	0	1	0	0	0	11794	1348	47	1	1213	1	PGLYRP2	19	15586948	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		15586948	43542035	38	8639										
FUT2	2524	broad.mit.edu	37	chr19	49207194	49207194	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	aagccagaggcagccttcctGccggagtggacagggattgc	15	11	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.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			Somatic				FUT2_ENST00000391876.4_Silent_p.L327L	p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	WXS	Illumina GAIIx	Phase_I	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	18	97	---	---	---	---	T	49207194	G	T	49207194	2	4	200	1	0	0	0	0	0	0	0	1	6104	1306	46	3		3	FUT2	19	49207194	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	33620246	49207194	9921789	39	8640										
PPFIA3	8541	broad.mit.edu	37	chr19	49633700	49633700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.205128205128205	8	0.344550140721541	2.82352941176471	5	1.63636363636364	0.659442724458204	1	0	acagcagagctggaggaggcCctggagcggcagcgcgccga	18	12	0	1	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			Somatic				PPFIA3_ENST00000602351.1_Silent_p.A241A	p.A241A	NM_003660.2	NP_003651.1	WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	T	49633700	C	T	49633700	2	4	200	1	0	0	0	0	0	0	0	1	12311	610	22	2		2	PPFIA3	19	49633700	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	426506	49633700	9495283	40	8641										
DNAJC16	23341	broad.mit.edu	37	chr1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ctgatcttctctgccctcttCatcctcttcggcactgtcat	5	16	6	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.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000483270.1_3'UTR	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		Somatic				DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L	p.F548L	NM_015291.2	NP_056106.1	WXS	Illumina GAIIx	Phase_I	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	74	258	---	---	---	---	G	15892459	C	G	15892459	3	3	201	1	0	0	0	0	1	0	0	0	4635	825	29	4	1686	4	DNAJC16	1	15892459	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		15892459	233358162	1	8642										
UBAP2L	9898	broad.mit.edu	37	chr1	154224082	154224082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	gagtccacccccaccacgagCgcctcttcaagccaggctcc	8	20	2	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.chr1:154224082C>A	ENST00000361546.2	+	13	1659	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S539R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	539					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACCACGAGCGCCTCTTCAA	0.493																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1615-1617)agC>agA		ubiquitin associated protein 2-like							87	88	88					1																	154224082		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154224082C>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1617C>A	1.37:g.154224082C>A	ENSP00000355343:p.Ser539Arg		Somatic				UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S539R	p.S539R	NM_014847.3	NP_055662.3	WXS	Illumina GAIIx	Phase_I	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		14	1784	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		539					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1617C>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558949	0.65538	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.13196	2.61;2.62;2.61;2.62	5.09	4.16	0.48862	.	0.092877	0.85682	D	0.000000	T	0.05686	0.0149	N	0.22421	0.69	0.33283	D	0.562511	P;P;P;P;P	0.41748	0.649;0.761;0.761;0.761;0.649	B;B;B;B;B	0.40901	0.171;0.343;0.257;0.257;0.185	T	0.09228	-1.0684	10	0.72032	D	0.01	-3.27	15.2968	0.73916	0.0:0.8599:0.1401:0.0	.	453;550;532;539;539	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	R	539;539;35;35;550;539	ENSP00000345308:S539R;ENSP00000389445:S539R;ENSP00000271877:S550R;ENSP00000355343:S539R	ENSP00000271877:S550R	S	+	3	2	UBAP2L	152490706	0.578000	0.26717	1.000000	0.80357	0.999000	0.98932	-0.195000	0.09546	1.492000	0.48499	0.650000	0.86243	AGC		0.493	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		3	98	3	98	---	---	---	---	A	154224082	C	A	154224082	3	1	201	1	0	0	0	0	1	0	0	0	16835	767	27	3	1667	3	UBAP2L	1	154224082	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	138331623	154224082	95026539	2	8643										
NUP210	23225	broad.mit.edu	37	chr3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ccagggcctggatcttcagcTccaggggggagtcctccagg	15	13	2	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.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		Somatic					p.E136G	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	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	19	41	---	---	---	---	C	13438886	T	C	13438886	3	2	201	1	0	0	0	0	1	0	0	0	10760	1551	54	2	5408	2	NUP210	3	13438886	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		13438886	184583544	3	8644										
COL7A1	1294	broad.mit.edu	37	chr3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	gacactcaccgggaggccagGgtcgccaggaggcccaactt	14	14	1	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.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		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	p.P1274T	NM_000094.3	NP_000085.1	WXS	Illumina GAIIx	Phase_I	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	53	123	---	---	---	---	T	48623134	G	T	48623134	3	4	201	1	0	0	0	0	1	0	0	0	3704	1232	43	1	5370	1	COL7A1	3	48623134	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	35184248	48623134	149399296	4	8645										
RASSF1	11186	broad.mit.edu	37	chr3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tgctgttgatctgggcattgTactccttgatcttctgctca	9	10	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.chr3:50369518T>C	ENST00000357043.2	-	3	472	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000359365.4_Missense_Mutation_p.Y142C|RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C					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		Somatic				RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|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	WXS	Illumina GAIIx	Phase_I	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	3	103	---	---	---	---	C	50369518	T	C	50369518	3	2	201	1	0	0	0	0	1	0	0	0	13084	1638	57	2	613	2	RASSF1	3	50369518	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	1746384	50369518	147652912	5	8646										
GRXCR1	389207	broad.mit.edu	37	chr4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tggccacatagagtcagaagGtgatgagaatgagaatgacc	13	6	1	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.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		Somatic					p.G70D	NM_001080476.2	NP_001073945.1	WXS	Illumina GAIIx	Phase_I	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	4	154	---	---	---	---	A	42895492	G	A	42895492	3	1	201	1	0	0	0	0	1	0	0	0	6812	1261	44	2	211	2	GRXCR1	4	42895492	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		42895492	148258784	6	8647										
SPATA18	132671	broad.mit.edu	37	chr4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tgagaaaatcgttgacaccaTcttatgtggggtcgaatgac	11	7	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.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		Somatic				SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	p.S364T	NM_145263.2	NP_660306.1	WXS	Illumina GAIIx	Phase_I	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	6	111	---	---	---	---	A	52944970	T	A	52944970	3	1	201	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	7	8648										
UGT2B11	10720	broad.mit.edu	37	chr4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ggctcctttgtggggcatgaCaaattcaatccagaagactg	11	9	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.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		Somatic				RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.V467F	NM_001073.1	NP_001064.1	WXS	Illumina GAIIx	Phase_I	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	27	99	---	---	---	---	A	70066349	C	A	70066349	3	1	201	1	0	0	0	0	1	0	0	0	16954	478	17	3	194	3	UGT2B11	4	70066349	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	17121379	70066349	121087927	8	8649										
HELQ	113510	broad.mit.edu	37	chr4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tttcttttcccttcttttagTtggaggaaatcttcctttgc	6	9	3	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.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		Somatic				HELQ_ENST00000510985.1_Intron	p.T425A	NM_133636.2	NP_598375	WXS	Illumina GAIIx	Phase_I	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	12	48	---	---	---	---	C	84368107	T	C	84368107	3	2	201	1	0	0	0	0	1	0	0	0	7047	1725	60	2	2092	2	HELQ	4	84368107	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	14301758	84368107	106786169	9	8650										
ODZ3	55714	broad.mit.edu	37	chr4	183675933	183675933	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tacgccaaggatgccaaactCagtgccccatcctccctggc	8	17	1	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.chr4:183675933C>T	ENST00000511685.1	+	22	4536	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR			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			Somatic				TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR	p.L1471L			WXS	Illumina GAIIx	Phase_I					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	14	46	---	---	---	---	T	183675933	C	T	183675933	2	4	201	1	0	0	0	0	0	0	0	1	10836	813	29	2		2	ODZ3	4	183675933	Silent	SNP	C	TCGA-HI-7170-01A-11D-2114-08	99307826	183675933	7478343	10	8651										
TAS2R5	54429	broad.mit.edu	37	chr7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	caccttcctcagtgtcttctAttgcaagaagatcacgacct	6	13	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.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		Somatic					p.Y103C	NM_018980.2	NP_061853.1	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	G	141490469	A	G	141490469	3	3	201	1	0	0	0	0	1	0	0	0	15580	449	16	2	310	2	TAS2R5	7	141490469	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		141490469	17648194	11	8652										
MLL3	58508	broad.mit.edu	37	chr7	151970814	151970814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ttcaggagcttggtcaatgtGttctggacaaagcaggaaga	13	6	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.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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N	p.H330N			WXS	Illumina GAIIx	Phase_I					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	4	196	---	---	---	---	T	151970814	G	T	151970814	3	4	201	1	0	0	0	0	1	0	0	0	9622	1377	48	3	13959	3	MLL3	7	151970814	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	10480345	151970814	7167849	12	8653										
EN2	2020	broad.mit.edu	37	chr7	155255151	155255151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tttaccgccgagcagctgcaGaggctcaaggccgagttcca	12	13	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.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			Somatic					p.Q257Q	NM_001427.3	NP_001418.2	WXS	Illumina GAIIx	Phase_I	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	12	52	---	---	---	---	A	155255151	G	A	155255151	2	1	201	1	0	0	0	0	0	0	0	1	5110	933	33	2		2	EN2	7	155255151	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08	3284337	155255151	3883512	13	8654										
LPPR1	54886	broad.mit.edu	37	chr9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	gtttgctccacagaatcactCtgcgtccatgaccgaagtta	8	12	2	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	54886					integral to membrane	catalytic activity	g.chr9:104086314C>A																												ENST00000374874.3:c.953C>A	9.37:g.104086314C>A	ENSP00000364008:p.Ser318Tyr		Somatic				LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	p.S318Y	NM_207299.1	NP_997182.1	WXS	Illumina GAIIx	Phase_I	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	4	47	---	---	---	---	A	104086314	C	A	104086314	3	1	201	1	0	0	0	0	1	0	0	0	8924	913	32	3	979	3	LPPR1	9	104086314	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		104086314	37127117	14	8655										
PLCE1	51196	broad.mit.edu	37	chr10	95849072	95849072	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ttggctcttcccgctctctgAggtacccaattttaccttgt	7	13	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.chr10:95849072A>T	ENST00000371380.3	+	2	1441				RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.E74V|PLCE1_ENST00000371385.3_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			Somatic				PLCE1_ENST00000371380.3_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V	p.E74V			WXS	Illumina GAIIx	Phase_I	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	6	79	---	---	---	---	T	95849072	A	T	95849072	1	4	201	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	15	8656										
ADAM12	8038	broad.mit.edu	37	chr10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	cactgacaacttcatcagctCttccttggttccataagctc	5	14	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.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		Somatic				ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	p.R38T	NM_003474.4	NP_003465.3	WXS	Illumina GAIIx	Phase_I	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	20	89	---	---	---	---	G	128019054	C	G	128019054	3	3	201	1	0	0	0	0	1	0	0	0	236	913	32	4	2812	4	ADAM12	10	128019054	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	32169982	128019054	7515693	16	8657										
CPSF7	79869	broad.mit.edu	37	chr11	61196740	61196740	+	5'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	aagatcgcgagtccggaggaTggacaaagtaaggaagatgc	15	6	0	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.chr11:61196740T>C	ENST00000394888.4	-	0	140				CPSF7_ENST00000541963.1_5'UTR|SDHAF2_ENST00000534878.1_5'Flank|SDHAF2_ENST00000537782.1_5'Flank|CPSF7_ENST00000448745.1_5'UTR|SDHAF2_ENST00000542074.1_5'Flank|SDHAF2_ENST00000543265.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|RP11-286N22.8_ENST00000543044.1_5'Flank|CPSF7_ENST00000340437.4_Missense_Mutation_p.I33V|CPSF7_ENST00000439958.3_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			Somatic				CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000439958.3_5'UTR	p.I33V	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	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	18	61	---	---	---	---	C	61196740	T	C	61196740	1	2	201	0	1	0	0	0	0	0	0	0	3830	1464	51	2		2	CPSF7	11	61196740	5'UTR	SNP	T	TCGA-HI-7170-01A-11D-2114-08		61196740	73809776	17	8658										
PRKAG1	5571	broad.mit.edu	37	chr12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ttaccaaggctgatttatagTagcggtgcaggatattgatg	12	5	0	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.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_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		Somatic				RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C	p.Y98C			WXS	Illumina GAIIx	Phase_I	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	26	80	---	---	---	---	C	49399105	T	C	49399105	3	2	201	1	0	0	0	0	1	0	0	0	12500	1638	57	2	734	2	PRKAG1	12	49399105	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		49399105	84452790	18	8659										
MLL2	8085	broad.mit.edu	37	chr12	49437439	49437440	+	Frame_Shift_Ins	INS	-	-	A													0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	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)aaggaafs		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		Somatic	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.E1816fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	201	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	19	8660										
RPGRIP1	57096	broad.mit.edu	37	chr14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ataaccgtatcaagcagctgGaaggtattttaagaagccat	9	7	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.chr14:21790127G>T	ENST00000400017.2	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000556336.1_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*		Somatic				RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*	p.E576*			WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	T	21790127	G	T	21790127	4	4	201	1	0	0	0	0	0	1	0	0	13549	1175	41	3	1776	3	RPGRIP1	14	21790127	Nonsense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		21790127	85559413	20	8661										
ANKRD11	29123	broad.mit.edu	37	chr16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-													0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	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)aagdel		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		Somatic				ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina GAIIx	Phase_I	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	201	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	21	8662										
RICH2	9912	broad.mit.edu	37	chr17	12847399	12847399	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	ccctcagaggcctgggtagaGaagccttccttcgggaagcc	13	13	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.chr17:12847399G>A	ENST00000379672.5	+	10	1047	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_ENST00000262444.9_Silent_p.E249E|ARHGAP44_ENST00000340825.3_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			Somatic				ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E	p.E249E	NM_014859.4	NP_055674.4	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	A	12847399	G	A	12847399	2	1	201	1	0	0	0	0	0	0	0	1	13357	933	33	2		2	RICH2	17	12847399	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08		12847399	68347811	22	8663										
CENPB	1059	broad.mit.edu	37	chr20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tctgctggaaccaggcgatgAgcaagccctcgagcttgtcg	13	12	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.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		Somatic					p.L81H	NM_001810.5	NP_001801.1	WXS	Illumina GAIIx	Phase_I	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	21	44	---	---	---	---	T	3766889	A	T	3766889	3	4	201	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	23	8664										
ZRSR2	8233	broad.mit.edu	37	chrX	15809137	15809137	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.208333333333333	5	0.234657135360454	5.05411255411255	6.06493506493506	4.5487012987013	1	1	0	tgctcgactgagagactcagGtgatggactctttattctgt	11	8	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.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			Somatic				ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site		NM_005089.3	NP_005080.1	WXS	Illumina GAIIx	Phase_I	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	6	13	---	---	---	---	T	15809137	G	T	15809137	5	4	201	1	0	0	0	0	0	0	1	0	18222	1275	44	3	128	3	ZRSR2	23	15809137	Splice_Site	SNP	G	TCGA-HI-7170-01A-11D-2114-08		15809137	139461423	24	8665										
SELE	6401	broad.mit.edu	37	chr1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	atgtccgagctgcagagccaTtgagcgtccatccttcagga	11	12	1	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_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S	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		Somatic				SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S	p.N527S	NM_000450.2	NP_000441.2	WXS	Illumina GAIIx	Phase_I	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	6	69	---	---	---	---	C	169696555	T	C	169696555	3	2	202	1	0	0	0	0	1	0	0	0	14013	1493	52	2	268	2	SELE	1	169696555	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08		169696555	79554066	1	8666										
PXDN	7837	broad.mit.edu	37	chr2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cctgtgtgttctggatcatcAgggtcccatcgtccagcaag	11	12	3	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.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		Somatic				PXDN_ENST00000483018.1_5'UTR	p.L302P	NM_012293.1	NP_036425.1	WXS	Illumina GAIIx	Phase_I	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	3	137	---	---	---	---	G	1677528	A	G	1677528	3	3	202	1	0	0	0	0	1	0	0	0	12847	188	7	2	3594	2	PXDN	2	1677528	Missense_Mutation	SNP	A	TCGA-HI-7171-01A-12D-2114-08		1677528	241521845	2	8667										
C2orf42	54980	broad.mit.edu	37	chr2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	ctctgaaaccccgagctccaCaaagcatcggtaatcagggc	9	14	2	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_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M	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		Somatic				C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M|C2orf42_ENST00000470096.1_5'UTR	p.V90M	NM_017880.1	NP_060350.1	WXS	Illumina GAIIx	Phase_I	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	8	75	---	---	---	---	T	70408850	C	T	70408850	3	4	202	1	0	0	0	0	1	0	0	0	2166	478	17	2	1488	2	C2orf42	2	70408850	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	68731322	70408850	172790523	3	8668										
TNS1	7145	broad.mit.edu	37	chr2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cagtgttgagagggtagtggCgtctgaaaaagagcctgcag	16	6	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.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	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		Somatic				TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	p.R1659H	NM_022648.4	NP_072174.3	WXS	Illumina GAIIx	Phase_I	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	21	105	---	---	---	---	T	218673380	C	T	218673380	3	4	202	1	0	0	0	0	1	0	0	0	16340	768	27	2	243	2	TNS1	2	218673380	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	148264530	218673380	24525993	4	8669										
IL7R	3575	broad.mit.edu	37	chr5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tgcacgatgtagcttaccgcCaggaaaaggatgaaaacaaa	10	8	0	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.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_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		Somatic				IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	p.Q171K	NM_002185.3	NP_002176.2	WXS	Illumina GAIIx	Phase_I	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	5	44	---	---	---	---	A	35871289	C	A	35871289	3	1	202	1	0	0	0	0	1	0	0	0	7705	595	21	1	525	1	IL7R	5	35871289	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		35871289	145043971	5	8670										
EFNA5	1946	broad.mit.edu	37	chr5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	aggaccttcttccattatctGggattgcagaggctgtgggt	13	8	2	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.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		Somatic				EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L	p.P144L	NM_001962.2	NP_001953.1	WXS	Illumina GAIIx	Phase_I	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	15	80	---	---	---	---	A	106723460	G	A	106723460	3	1	202	1	0	0	0	0	1	0	0	0	4954	1348	47	2	267	2	EFNA5	5	106723460	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	70852171	106723460	74191800	6	8671										
TBCC	6903	broad.mit.edu	37	chr6	42713803	42713803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gcagcagcggagcaactgacGgactccatattggcttcaag	12	11	1	1	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			Somatic				TBCC_ENST00000372876.1_Silent_p.S3S	p.S3S			WXS	Illumina GAIIx	Phase_I	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	19	44	---	---	---	---	A	42713803	G	A	42713803	2	1	202	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	7	8672										
GCM1	8521	broad.mit.edu	37	chr6	53010374	53010374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	acctgtggcagtttcacatcAttaatatcccagcttaatat	5	10	2	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.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			Somatic					p.N19N	NM_003643.3	NP_003634.2	WXS	Illumina GAIIx	Phase_I	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	3	112	---	---	---	---	G	53010374	A	G	53010374	2	3	202	1	0	0	0	0	0	0	0	1	6297	214	8	2		2	GCM1	6	53010374	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08	10296571	53010374	118104693	8	8673										
NEUROD6	63974	broad.mit.edu	37	chr7	31378577	31378577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	ccgtgcatcctgttcctctcGcgcgcgttcgcttcctgtct	9	17	2	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.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			Somatic					p.R102R	NM_022728.2	NP_073565.2	WXS	Illumina GAIIx	Phase_I	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	14	137	---	---	---	---	A	31378577	G	A	31378577	2	1	202	1	0	0	0	0	0	0	0	1	10351	1074	38	2		2	NEUROD6	7	31378577	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		31378577	127760086	9	8674										
ABCA13	154664	broad.mit.edu	37	chr7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	ggaaagcctccatcagcagcCtcatatctgggattttctac	8	12	4	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.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		Somatic					p.P176L	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	14	103	---	---	---	---	T	48266917	C	T	48266917	3	4	202	1	0	0	0	0	1	0	0	0	31	681	24	2	378	2	ABCA13	7	48266917	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	16888340	48266917	110871746	10	8675										
PRDM14	63978	broad.mit.edu	37	chr8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	ggctgctgctcaggaagggcGgcacttccctggggacgtgg	18	11	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.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		Somatic					p.P112L	NM_024504.3	NP_078780.1	WXS	Illumina GAIIx	Phase_I	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	11	8	---	---	---	---	A	70981761	G	A	70981761	3	1	202	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	11	8676										
A1CF	29974	broad.mit.edu	37	chr10	52595833	52595833	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tttgaggaggggattgctaaCctggtagcagtttcctcctc	12	9	0	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.chr10:52595833C>A	ENST00000373993.1	-	4	649		c.e4+1		A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000374001.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000395495.1_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																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.e5+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			Somatic				A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			5	744	-								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	29	49	---	---	---	---	A	52595833	C	A	52595833	5	1	202	1	0	0	0	0	0	0	1	0	2	521	18	3	1211	3	A1CF	10	52595833	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		52595833	82938914	12	8677										
MKI67	4288	broad.mit.edu	37	chr10	129905901	129905901	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	ttcagggctgagagctccttCtgtacgtcccttttctccaa	8	13	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.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			Somatic				MKI67_ENST00000368653.3_Silent_p.Q1041Q	p.Q1401Q	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	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	4	205	---	---	---	---	T	129905901	C	T	129905901	2	4	202	1	0	0	0	0	0	0	0	1	9598	912	32	2		2	MKI67	10	129905901	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	77310068	129905901	5628846	13	8678										
OR51G1	79324	broad.mit.edu	37	chr11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gaggagagcacttctaagcaCtgagcttagccccatcttga	10	11	2	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.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_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		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V151L	NM_001005237.1	NP_001005237.1	WXS	Illumina GAIIx	Phase_I	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	34	35	---	---	---	---	A	4945119	C	A	4945119	3	1	202	1	0	0	0	0	1	0	0	0	11098	565	20	3	516	3	OR51G1	11	4945119	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		4945119	130061397	14	8679										
AHNAK	79026	broad.mit.edu	37	chr11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	aaatcctggcatgctgaattTgggcattttcaccttgggca	10	9	1	1	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_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_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*		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4067*	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	31	265	---	---	---	---	A	62289690	T	A	62289690	4	1	202	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	15	8680										
OR6C76	390326	broad.mit.edu	37	chr12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	agtagctatactcaatacctCtgtcgctcctatgctgaatc	6	12	2	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.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		Somatic					p.S277C	NM_001005183.1	NP_001005183.1	WXS	Illumina GAIIx	Phase_I	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	22	29	---	---	---	---	G	55820867	C	G	55820867	3	3	202	1	0	0	0	0	1	0	0	0	11200	913	32	4	832	4	OR6C76	12	55820867	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		55820867	78031028	16	8681										
MYF5	4617	broad.mit.edu	37	chr12	81110950	81110950	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gacgagtttgtgccgcgagtGgctgccttcggagcgcacaa	15	11	0	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.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			Somatic					p.V36V	NM_005593.2	NP_005584.2	WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	T	81110950	G	T	81110950	2	4	202	1	0	0	0	0	0	0	0	1	10027	1335	47	1		1	MYF5	12	81110950	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	25290083	81110950	52740945	17	8682										
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	12	12	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.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000541395.1_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			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			Somatic				HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G	p.G338G			WXS	Illumina GAIIx	Phase_I	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	29	118	---	---	---	---	T	121434123	C	T	121434123	2	4	202	1	0	0	0	0	0	0	0	1	7251	755	27	2		2	HNF1A	12	121434123	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	40323173	121434123	12417772	18	8683										
ATP6V0A2	23545	broad.mit.edu	37	chr12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tgacaccacctatggcgtctTgctactgctcccggttatcg	9	14	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.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W|ATP6V0A2_ENST00000543687.1_3'UTR	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		Somatic				ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W	p.L788W	NM_012463.3	NP_036595.2	WXS	Illumina GAIIx	Phase_I	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	9	127	---	---	---	---	G	124241431	T	G	124241431	3	3	202	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	19	8684										
JPH4	84502	broad.mit.edu	37	chr14	24040359	24040359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cctccgaggagtggggaaccGtctctgggccctggcccttg	15	14	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.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			Somatic				JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	p.D527D	NM_032452.2	NP_115828.2	WXS	Illumina GAIIx	Phase_I	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	72	173	---	---	---	---	A	24040359	G	A	24040359	2	1	202	1	0	0	0	0	0	0	0	1	7963	1136	40	2		2	JPH4	14	24040359	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		24040359	83309181	20	8685										
SAV1	60485	broad.mit.edu	37	chr14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gaccatgccggatgaatgaaGgcataagatctacaataaaa	9	7	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.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		Somatic					p.P35L	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	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	5	16	---	---	---	---	A	51132328	G	A	51132328	3	1	202	1	0	0	0	0	1	0	0	0	13856	1000	35	2	1063	2	SAV1	14	51132328	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	27091969	51132328	56217212	21	8686										
KIAA1024	23251	broad.mit.edu	37	chr15	79748639	79748639	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gccaaactgagaagtgtgctCttctacacagcttgtctcga	9	11	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.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			Somatic					p.L50L	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	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	49	60	---	---	---	---	G	79748639	C	G	79748639	2	3	202	1	0	0	0	0	0	0	0	1	8205	900	32	4		4	KIAA1024	15	79748639	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08		79748639	22782753	22	8687										
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770148	66770148	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gtcttgaaaatctttcacaaCtgggggaaaaagaggaaaaa	10	5	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.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|RP11-63M22.1_ENST00000565082.1_lincRNA	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			Somatic				DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site		NM_006141.2	NP_006132.1	WXS	Illumina GAIIx	Phase_I	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	17	4	---	---	---	---	T	66770148	C	T	66770148	5	4	202	1	0	0	0	0	0	0	1	0	4845	579	20	2	985	2	DYNC1LI2	16	66770148	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		66770148	23584605	23	8688										
OR3A2	4995	broad.mit.edu	37	chr17	3181633	3181633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	agctcattgagttgggtgctGgagcaggagagctggaagag	18	5	1	3	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			Somatic					p.S199S	NM_002551.3	NP_002542.3	WXS	Illumina GAIIx	Phase_I	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	21	68	---	---	---	---	A	3181633	G	A	3181633	2	1	202	1	0	0	0	0	0	0	0	1	11038	1335	47	2		2	OR3A2	17	3181633	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		3181633	78013577	24	8689										
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	12	9	0	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.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_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)	Somatic				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|TP53_ENST00000359597.4_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	37	43	---	---	---	---	C	7577566	T	C	7577566	3	2	202	1	0	0	0	0	1	0	0	0	16378	1754	61	2	575	2	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	4395933	7577566	73617644	25	8690										
KCNJ12	3768	broad.mit.edu	37	chr17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tgtggaggcccatgtgcgcgCgcagctcatcaagccgcggg	16	13	2	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)	Somatic				KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	p.A230V	NM_021012.4	NP_066292.2	WXS	Illumina GAIIx	Phase_I				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	4	64	---	---	---	---	T	21319343	C	T	21319343	3	4	202	1	0	0	0	0	1	0	0	0	8046	768	27	2	691	2	KCNJ12	17	21319343	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	13741777	21319343	59875867	26	8691										
C17orf78	284099	broad.mit.edu	37	chr17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tattgtggtcaaaattctgaTtgctgtcaccctgttgctca	8	9	4	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.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	RP11-378E13.3_ENST00000592238.1_RNA|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|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		Somatic				ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000589665.1_Intron	p.I189N	NM_173625.3	NP_775896.3	WXS	Illumina GAIIx	Phase_I	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	13	12	---	---	---	---	A	35745662	T	A	35745662	3	1	202	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	27	8692										
CDH2	1000	broad.mit.edu	37	chr18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	acatcccattgagggcattgGgatcgtcagcatcaattgct	10	10	2	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.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		Somatic				CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	p.P297H	NM_001792.3	NP_001783.2	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	T	25583091	G	T	25583091	3	4	202	1	0	0	0	0	1	0	0	0	3105	1232	43	1	1870	1	CDH2	18	25583091	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		25583091	52494157	28	8693										
SHC2	25759	broad.mit.edu	37	chr19	438989	438989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cctttttcttccaggatcccCggacgccaggcacggcctca	9	17	2	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.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		Somatic					p.R194Q	NM_012435.2	NP_036567.2	WXS	Illumina GAIIx	Phase_I	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	9	12	---	---	---	---	T	438989	C	T	438989	3	4	202	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	29	8694										
PRKACA	5566	broad.mit.edu	37	chr19	14204548	14204548	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cgcttggtgagatctacctgCaggaggttccgcagcaggtc	14	11	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.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000590853.1_Intron|SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.L266L	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			Somatic				PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.L266L	p.L274L	NM_002730.3	NP_002721.1	WXS	Illumina GAIIx	Phase_I	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	3	66	---	---	---	---	A	14204548	C	A	14204548	2	1	202	1	0	0	0	0	0	0	0	1	12497	697	25	3		3	PRKACA	19	14204548	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	13765559	14204548	44924435	30	8695										
RAC2	5880	broad.mit.edu	37	chr22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	cctagaggaggctgcaggcgCgcttctgctgccgcgtgggc	17	13	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.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		Somatic				RAC2_ENST00000406508.1_Missense_Mutation_p.R143H|RAC2_ENST00000405484.1_Missense_Mutation_p.R180H	p.R187H	NM_002872.3	NP_002863.1	WXS	Illumina GAIIx	Phase_I	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	7	15	---	---	---	---	T	37622732	C	T	37622732	3	4	202	1	0	0	0	0	1	0	0	0	12975	768	27	2	22	2	RAC2	22	37622732	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		37622732	13681834	31	8696										
NSDHL	50814	broad.mit.edu	37	chrX	152037459	152037459	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	3	1	1.42570281124498	8.55421686746988	0.534638554216867	1	1	0	tactacctggccctcctgctAtccctgctggtgatggtgat	10	13	0	2	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			Somatic				NSDHL_ENST00000440023.1_Silent_p.L307L	p.L307L	NM_015922.2	NP_057006.1	WXS	Illumina GAIIx	Phase_I	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	38	5	---	---	---	---	G	152037459	A	G	152037459	2	3	202	1	0	0	0	0	0	0	0	1	10670	436	16	2		2	NSDHL	23	152037459	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08		152037459	3233101	32	8697										
KIAA1614	57710	broad.mit.edu	37	chr1	180907822	180907822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	gcctgcagaggacagggtcaGgatctggaggacatgtgctg	17	8	2	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.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		Somatic				KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	p.G965R	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	A	180907822	G	A	180907822	3	1	203	1	0	0	0	0	1	0	0	0	8248	1001	35	2	2915	2	KIAA1614	1	180907822	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		180907822	68342799	1	8698										
IARS2	55699	broad.mit.edu	37	chr1	220273972	220273972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	gaagctcagaatctttcagcTatggaaattagaaagaaagg	10	5	3	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			Somatic				IARS2_ENST00000302637.5_Silent_p.A177A	p.A105A			WXS	Illumina GAIIx	Phase_I	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	19	28	---	---	---	---	C	220273972	T	C	220273972	2	2	203	1	0	0	0	0	0	0	0	1	7474	1509	53	2		2	IARS2	1	220273972	Silent	SNP	T	TCGA-J4-8198-01A-11D-2260-08	39366150	220273972	28976649	2	8699										
CNTNAP5	129684	broad.mit.edu	37	chr2	125547651	125547651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	cacaacgggggcaagtgtgtGgagaagcacaatggctacct	14	9	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.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			Somatic					p.V974V	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	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	16	22	---	---	---	---	A	125547651	G	A	125547651	2	1	203	1	0	0	0	0	0	0	0	1	3650	1335	47	2		2	CNTNAP5	2	125547651	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08		125547651	117651722	3	8700										
RIF1	55183	broad.mit.edu	37	chr2	152322042	152322042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	tggggaactagatggaggaaAtgatgtatctgatctacact	12	5	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.chr2:152322042A>C	ENST00000243326.5	+	29	6491	c.6008A>C	c.(6007-6009)aAt>aCt	p.N2003T	RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_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																																						ENST00000243326.5																			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		Somatic				RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T	p.N2003T			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6491	+						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	8	15	---	---	---	---	C	152322042	A	C	152322042	3	2	203	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	4	8701										
CLASP2	23122	broad.mit.edu	37	chr3	33686339	33686339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	tgcaggaaccttgaaggctgAtgcagctgatgatggcctat	13	8	0	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.chr3:33686339A>G	ENST00000468888.2	-	8	818	c.772T>C	c.(772-774)Tca>Cca	p.S258P	CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000399362.4_Missense_Mutation_p.S258P|CLASP2_ENST00000482896.1_5'UTR			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		Somatic				CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P	p.S258P	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	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	2	10	---	---	---	---	G	33686339	A	G	33686339	3	3	203	1	0	0	0	0	1	0	0	0	3455	333	12	2	3872	2	CLASP2	3	33686339	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08		33686339	164336091	5	8702										
HELQ	113510	broad.mit.edu	37	chr4	84375053	84375060	+	Frame_Shift_Del	DEL	TAAAGCTA	TAAAGCTA	-													0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	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_ENST00000295491.4_5'Flank|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs	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)gatagctttactfs	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		Somatic				HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs|HELQ_ENST00000440639.2_5'UTR	p.SFT113fs	NM_133636.2	NP_598375	WXS	Illumina GAIIx	Phase_I	Q8TDG4	HELQ_HUMAN			2	498_505	-			113					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	203	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	6	8703										
C6	729	broad.mit.edu	37	chr5	41154017	41154017	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	gcctttggggcaagttagctCaatggattcaccaattctat	9	9	3	0	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		Somatic				C6_ENST00000337836.5_Missense_Mutation_p.E729K	p.E729K	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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	17	48	---	---	---	---	T	41154017	C	T	41154017	3	4	203	1	0	0	0	0	1	0	0	0	2315	835	29	2	635	2	C6	5	41154017	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		41154017	139761243	7	8704										
GTF2E2	2961	broad.mit.edu	37	chr8	30437879	30437879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	attttctcctcgtccatggaAtctacagtgacactcctcca	5	14	2	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.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		Somatic					p.D226E	NM_002095.4	NP_002086.1	WXS	Illumina GAIIx	Phase_I	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	28	59	---	---	---	---	C	30437879	A	C	30437879	3	2	203	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		30437879	115926143	8	8705										
MTDH	92140	broad.mit.edu	37	chr8	98657100	98657100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	aagaagaaccggaagaaactGtccgagaagcccaaagtgag	12	8	0	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.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			Somatic				MTDH_ENST00000519934.1_Silent_p.L99L	p.L122L	NM_178812.3	NP_848927.2	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	A	98657100	G	A	98657100	2	1	203	1	0	0	0	0	0	0	0	1	9917	1364	48	2		2	MTDH	8	98657100	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08	68219221	98657100	47706922	9	8706										
POLD3	10714	broad.mit.edu	37	chr11	74303721	74303721	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	accatggcggaccagctttaTctggaaaatatagacgagtt	10	8	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.chr11:74303721T>G	ENST00000263681.2	+	1	147	c.18T>G	c.(16-18)taT>taG	p.Y6*	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame	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*		Somatic				POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame	p.Y6*	NM_006591.2	NP_006582.1	WXS	Illumina GAIIx	Phase_I	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	9	11	---	---	---	---	G	74303721	T	G	74303721	4	3	203	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		74303721	60702795	10	8707										
BIRC2	329	broad.mit.edu	37	chr11	102248361	102248361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	atattattaaacaaaaaacaCagatacctttacaagcgaga	4	7	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.chr11:102248361C>G	ENST00000227758.2	+	7	2900	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E	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		Somatic				BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E	p.Q501E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	WXS	Illumina GAIIx	Phase_I	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	12	19	---	---	---	---	G	102248361	C	G	102248361	3	3	203	1	0	0	0	0	1	0	0	0	1435	479	17	4	1523	4	BIRC2	11	102248361	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08	27944640	102248361	32758155	11	8708										
NAV3	89795	broad.mit.edu	37	chr12	78593154	78593155	+	Frame_Shift_Ins	INS	-	-	T													0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	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_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs			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.(6559-6561)tttfs		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)	Somatic				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs	p.F2187fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			37	6731_6732	+			2187					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	203	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	12	8709										
ISLR	3671	broad.mit.edu	37	chr15	74467265	74467265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	gctcaggcctgccctgagccCtgcgactgtggggaaaagta	14	12	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.chr15:74467265C>T	ENST00000249842.3	+	2	423	c.66C>T	c.(64-66)ccC>ccT	p.P22P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P22P	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			Somatic				RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P22P	p.P22P	NM_005545.3	NP_005536.1	WXS	Illumina GAIIx	Phase_I	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	13	34	---	---	---	---	T	74467265	C	T	74467265	2	4	203	1	0	0	0	0	0	0	0	1	7858	668	24	2		2	ISLR	15	74467265	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08		74467265	28064127	13	8710										
MYO15A	51168	broad.mit.edu	37	chr17	18023607	18023607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	gaagctggaggtgcccctgcCaccctctctggacattcctc	10	16	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.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		Somatic					p.P498L	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	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	17	37	---	---	---	---	T	18023607	C	T	18023607	3	4	203	1	0	0	0	0	1	0	0	0	10063	594	21	2	1495	2	MYO15A	17	18023607	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		18023607	63171603	14	8711										
MED13	9969	broad.mit.edu	37	chr17	60060259	60060259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	tacaagtctgaattttcataTttgactgaaccttgagcact	6	8	2	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.chr17:60060259T>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		Somatic					p.K1035N	NM_005121.2	NP_005112.2	WXS	Illumina GAIIx	Phase_I	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	17	37	---	---	---	---	A	60060259	T	A	60060259	3	1	203	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	42036652	60060259	21134951	15	8712										
EPB41L3	23136	broad.mit.edu	37	chr18	5416266	5416266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	tctggacggctcataacctgGcagtttgcagtcattctcct	9	12	4	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.chr18:5416266G>T	ENST00000341928.2	-	13	1958	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_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	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		Somatic				EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	p.P540T	NM_012307.2	NP_036439.2	WXS	Illumina GAIIx	Phase_I	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	25	73	---	---	---	---	T	5416266	G	T	5416266	3	4	203	1	0	0	0	0	1	0	0	0	5154	1203	42	3	1685	3	EPB41L3	18	5416266	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		5416266	72660982	16	8713										
ATP5A1	498	broad.mit.edu	37	chr18	43666432	43666432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	taattgcagggcggatacctTtgtagaacaattctgtttcc	9	8	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.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_ENST00000590665.1_Missense_Mutation_p.K380R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R	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		Somatic				ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R|ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R	p.K352R	NM_001257335.1	NP_001244264.1	WXS	Illumina GAIIx	Phase_I	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	10	20	---	---	---	---	C	43666432	T	C	43666432	3	2	203	1	0	0	0	0	1	0	0	0	1147	1841	64	2	472	2	ATP5A1	18	43666432	Missense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	38250166	43666432	34410816	17	8714										
C19orf44	84167	broad.mit.edu	37	chr19	16620545	16620545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	atctgaagcccccatggtgaAcacagtcagctcagcttatt	8	12	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	C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	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		Somatic				C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	p.N462S	NM_032207.2	NP_115583.1	WXS	Illumina GAIIx	Phase_I	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	20	33	---	---	---	---	G	16620545	A	G	16620545	3	3	203	1	0	0	0	0	1	0	0	0	1927	43	2	2	1399	2	C19orf44	19	16620545	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08		16620545	42508438	18	8715										
RSPH6A	81492	broad.mit.edu	37	chr19	46303813	46303813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.734649122807018	0	0.839598997493734	1	1	0	ggtggtccagggtgccaggtGcatgatttctgtggtggaga	18	6	1	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.chr19:46303813G>A	ENST00000221538.3	-	5	1949	c.1807C>T	c.(1807-1809)Cac>Tac	p.H603Y	RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y	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		Somatic				RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y|RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y	p.H603Y	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	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	12	36	---	---	---	---	A	46303813	G	A	46303813	3	1	203	1	0	0	0	0	1	0	0	0	13707	1319	46	2	354	2	RSPH6A	19	46303813	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	29683268	46303813	12825170	19	8716										
DIRAS3	9077	broad.mit.edu	37	chr1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttggctgaaatctccatgaAggcgcaattccactccatcg	8	13	1	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	DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000413628.1_RNA|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		Somatic				GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA	p.F177V			WXS	Illumina GAIIx	Phase_I	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	14	116	---	---	---	---	C	68512452	A	C	68512452	3	2	204	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		68512452	180738169	1	8717										
NPHS2	7827	broad.mit.edu	37	chr1	179526351	179526351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctatctccattataaacatGtctttggtcacgatctaggc	6	10	5	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.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			Somatic				NPHS2_ENST00000367616.4_Intron	p.D183D	NM_014625.2	NP_055440.1	WXS	Illumina GAIIx	Phase_I	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	12	35	---	---	---	---	A	179526351	G	A	179526351	2	1	204	1	0	0	0	0	0	0	0	1	10583	1368	48	2		2	NPHS2	1	179526351	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	111013899	179526351	69724270	2	8718										
OBSCN	84033	broad.mit.edu	37	chr1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgcgaggccgggggccagcGgctctccttcagcctggacg	16	15	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.chr1:228437915G>A	ENST00000422127.1	+	14	4327	c.4283G>A	c.(4282-4284)cGg>cAg	p.R1428Q	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1520Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q	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		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q	p.R1520Q	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	9	161	---	---	---	---	A	228437915	G	A	228437915	3	1	204	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	48911564	228437915	20812706	3	8719										
MGAT5	4249	broad.mit.edu	37	chr2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcttcctcttcaggtacaagGtgacctgccaaagctcagag	9	12	4	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.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		Somatic				MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L	p.V679L			WXS	Illumina GAIIx	Phase_I	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	5	223	---	---	---	---	T	135206227	G	T	135206227	3	4	204	1	0	0	0	0	1	0	0	0	9548	1261	44	3	2097	3	MGAT5	2	135206227	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		135206227	107993146	4	8720										
CNTN6	27255	broad.mit.edu	37	chr3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atattaccaggtcagatgctGgatcatatacatgcatagcc	8	9	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.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*			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*		Somatic				CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*	p.G475*			WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---	T	1394066	G	T	1394066	4	4	204	1	0	0	0	0	0	1	0	0	3645	1349	47	1	1465	1	CNTN6	3	1394066	Nonsense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		1394066	196628364	5	8721										
ST8SIA4	7903	broad.mit.edu	37	chr5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	NA	0	1	1	0	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_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs	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)aacattfs		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		Somatic				ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.I120fs	p.I120fs	NM_005668.4	NP_005659.1	WXS	Illumina GAIIx	Phase_I	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)	120					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	204	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	6	8722										
MMP16	4325	broad.mit.edu	37	chr8	89128918	89128918	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggcactgtcggtagaggtcTtgtaggtggaggaatcttgt	17	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.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			Somatic				MMP16_ENST00000544227.1_5'UTR	p.R301R	NM_005941.4	NP_005932.2	WXS	Illumina GAIIx	Phase_I	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	6	167	---	---	---	---	G	89128918	T	G	89128918	2	3	204	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	7	8723										
ANKRD26	22852	broad.mit.edu	37	chr10	27381415	27381415	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgcttttttccacttacTgcaagtaaaagtggtgtgag	10	7	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.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			Somatic				ANKRD26_ENST00000436985.2_Silent_p.A186A	p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	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	7	30	---	---	---	---	A	27381415	T	A	27381415	2	1	204	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	8	8724										
BBOX1	8424	broad.mit.edu	37	chr11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctctacccagctgtatggtTgagagacaactgtccgtgct	10	11	1	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.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_ENST00000528583.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_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*		Somatic				BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|RP11-1L12.3_ENST00000526061.1_RNA	p.L34*	NM_003986.2	NP_003977.1	WXS	Illumina GAIIx	Phase_I	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	15	50	---	---	---	---	A	27077078	T	A	27077078	4	1	204	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	9	8725										
USP28	57646	broad.mit.edu	37	chr11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA													0	0	1	0	NA	0	1	1	0	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_ENST00000545540.1_In_Frame_Ins_p.505_506insI|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI	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>aTTCga		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		Somatic				USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insI|USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insI|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insI	p.630_631insI	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	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	204	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	10	8726										
DNAJC22	79962	broad.mit.edu	37	chr12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagctatgtggcagaaacctTtggctccttcttgaattggt	10	9	1	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.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		Somatic				DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S	p.F215S			WXS	Illumina GAIIx	Phase_I	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	5	184	---	---	---	---	C	49743299	T	C	49743299	3	2	204	1	0	0	0	0	1	0	0	0	4641	1841	64	2	646	2	DNAJC22	12	49743299	Missense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		49743299	84108596	11	8727										
SH2B3	10019	broad.mit.edu	37	chr12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agggccctgatgctcatggaGtgttcctggtgcggcagagc	16	10	1	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.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		Somatic				SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	p.V388M	NM_005475.2	NP_005466.1	WXS	Illumina GAIIx	Phase_I	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	31	126	---	---	---	---	A	111885274	G	A	111885274	3	1	204	1	0	0	0	0	1	0	0	0	14229	1029	36	2	1180	2	SH2B3	12	111885274	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	62141975	111885274	21966621	12	8728										
C12orf51	283450	broad.mit.edu	37	chr12	112632752	112632752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgctccagggtaatgtcccGgatggcagggatgtggaaga	17	7	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.chr12:112632752G>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		Somatic				HECTD4_ENST00000377560.5_Missense_Mutation_p.R2724W|HECTD4_ENST00000430131.2_Missense_Mutation_p.R2474W	p.R2750W	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					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	4	14	---	---	---	---	A	112632752	G	A	112632752	3	1	204	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	13	8729										
GPR132	29933	broad.mit.edu	37	chr14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacgaagcggtcgcaggagaTgcagcacaggaagaggatgc	16	9	0	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.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		Somatic				GPR132_ENST00000392585.2_Missense_Mutation_p.I127F|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F	p.I136F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	WXS	Illumina GAIIx	Phase_I	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	21	166	---	---	---	---	A	105518068	T	A	105518068	3	1	204	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		105518068	1831472	14	8730										
SLFN11	91607	broad.mit.edu	37	chr17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatcactgagctgcaccacCcttttcttcctcattgcttt	5	15	3	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.chr17:33679579C>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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	134	---	---	---	---	A	33679579	C	A	33679579	3	1	204	1	0	0	0	0	1	0	0	0	14733	622	22	1	207	1	SLFN11	17	33679579	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08		33679579	47515631	15	8731										
LIMD2	80774	broad.mit.edu	37	chr17	61776290	61776290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccttcacctgggcccgcagGctgaaggactgtgcgggaag	15	12	1	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_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000582055.1_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			Somatic				LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578061.1_Silent_p.S31S	p.S31S	NM_030576.3	NP_085053.1	WXS	Illumina GAIIx	Phase_I	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	5	93	---	---	---	---	A	61776290	G	A	61776290	2	1	204	1	0	0	0	0	0	0	0	1	8799	1194	42	2		2	LIMD2	17	61776290	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	28096711	61776290	19418920	16	8732										
F5	2153	broad.mit.edu	37	chr1	169511343	169511343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	ggaaactttgggtggccactCtgctttccaggcttgttggc	13	10	1	0			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		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.Q995H	p.Q1000H			WXS	Illumina GAIIx	Phase_I	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	34	130	---	---	---	---	A	169511343	C	A	169511343	3	1	205	1	0	0	0	0	1	0	0	0	5348	912	32	3	3741	3	F5	1	169511343	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		169511343	79739278	1	8733										
PTH2R	5746	broad.mit.edu	37	chr2	209307106	209307106	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	cagcaagaattctttgaacgCctctatgtaatgtataccgt	7	9	2	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.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			Somatic				PTH2R_ENST00000413482.1_3'UTR	p.R143R	NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	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	18	116	---	---	---	---	T	209307106	C	T	209307106	2	4	205	1	0	0	0	0	0	0	0	1	12760	726	26	2		2	PTH2R	2	209307106	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		209307106	33892267	2	8734										
ROBO1	6091	broad.mit.edu	37	chr3	78666863	78666863	+	Frame_Shift_Del	DEL	C	C	-													0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	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_ENST00000436010.2_Frame_Shift_Del_p.D1363fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs	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)gacfs		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		Somatic				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			WXS	Illumina GAIIx	Phase_I	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	205	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	3	8735										
DPPA4	55211	broad.mit.edu	37	chr3	109050826	109050826	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	aatggagggattggtatcttCttctgaggtctggggttgtc	15	5	4	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.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			Somatic				DPPA4_ENST00000478791.1_5'UTR	p.K77K	NM_018189.3	NP_060659.3	WXS	Illumina GAIIx	Phase_I	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	7	134	---	---	---	---	T	109050826	C	T	109050826	2	4	205	1	0	0	0	0	0	0	0	1	4736	912	32	2		2	DPPA4	3	109050826	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30383963	109050826	88971604	4	8736										
COL25A1	84570	broad.mit.edu	37	chr4	109767343	109767343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	ttttcacctgtcatacctggGtcccccatgtctccctttga	6	15	3	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.chr4:109767343G>A	ENST00000399132.1	-	28	1997	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	COL25A1_ENST00000399126.1_Silent_p.D489D|COL25A1_ENST00000399127.1_Silent_p.D462D	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			Somatic				COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	p.D489D	NM_198721.2	NP_942014.1	WXS	Illumina GAIIx	Phase_I	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	23	69	---	---	---	---	A	109767343	G	A	109767343	2	1	205	1	0	0	0	0	0	0	0	1	3684	1252	44	2		2	COL25A1	4	109767343	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		109767343	81386933	5	8737										
ZFR	51663	broad.mit.edu	37	chr5	32403259	32403259	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	tttcttggcagccatatttgTaggcactgctgatactttag	9	8	1	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.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		Somatic					p.T490S	NM_016107.3	NP_057191.2	WXS	Illumina GAIIx	Phase_I	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	15	83	---	---	---	---	A	32403259	T	A	32403259	3	1	205	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	6	8738										
PCDHB2	56133	broad.mit.edu	37	chr5	140474539	140474539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	aatttgttaaaagacctgggGctggagataggagaacttgc	13	5	0	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.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	56133				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			Somatic					p.G55G	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	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	4	57	---	---	---	---	T	140474539	G	T	140474539	2	4	205	1	0	0	0	0	0	0	0	1	11542	1190	42	3		3	PCDHB2	5	140474539	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08	108071280	140474539	40440721	7	8739										
PPRC1	23082	broad.mit.edu	37	chr10	103906642	103906642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	gggctctggggaccatgactAttgtgtccggagcaggaccc	15	11	1	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.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		Somatic				PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C|PPRC1_ENST00000489648.1_Intron	p.Y1298C	NM_015062.3	NP_055877.3	WXS	Illumina GAIIx	Phase_I	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	9	31	---	---	---	---	G	103906642	A	G	103906642	3	3	205	1	0	0	0	0	1	0	0	0	12410	449	16	2	3927	2	PPRC1	10	103906642	Missense_Mutation	SNP	A	TCGA-J4-A67T-01A-11D-A30X-08		103906642	31628105	8	8740										
C10orf91	170393	broad.mit.edu	37	chr10	134261457	134261457	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	gacctggctgaggcagctccCgtggtagatcaagcctcaca	12	13	2	2	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			Somatic				C10orf91_ENST00000321248.2_Silent_p.P110P	p.P110P	NM_173541.2	NP_775812.1	WXS	Illumina GAIIx	Phase_I	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	8	131	---	---	---	---	G	134261457	C	G	134261457	2	3	205	1	0	0	0	0	0	0	0	1	1624	639	23	4		4	C10orf91	10	134261457	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30354815	134261457	1273290	9	8741										
ADAMTS20	80070	broad.mit.edu	37	chr12	43944936	43944936	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	agtgaagcgatagtgggttcGgaacggcatgggttccagcg	17	7	0	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.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*		Somatic				ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	p.R77*	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	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	24	72	---	---	---	---	A	43944936	G	A	43944936	4	1	205	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	10	8742										
MTUS2	23281	broad.mit.edu	37	chr13	29599579	29599579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	cgtcatcctaaaccatctacCtcagaaagcaagcagagcac	6	14	3	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			Somatic					p.T258T	NM_001033602.2	NP_001028774.2	WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	T	29599579	C	T	29599579	2	4	205	1	0	0	0	0	0	0	0	1	9966	668	24	2		2	MTUS2	13	29599579	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		29599579	85570299	11	8743										
LTBP2	4053	broad.mit.edu	37	chr14	74991895	74991895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.004329004329	0	1.17171717171717	1	1	0	cttcctgtatctctgcaatcCcctgttcaggcattggtggg	10	12	2	0			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		Somatic				LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	p.G821E	NM_000428.2	NP_000419.1	WXS	Illumina GAIIx	Phase_I	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	11	75	---	---	---	---	T	74991895	C	T	74991895	3	4	205	1	0	0	0	0	1	0	0	0	9074	623	22	2	3091	2	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		74991895	32357645	12	8744										
USP48	84196	broad.mit.edu	37	chr1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatttacctgtcaaagacaAaacgcattagctgcaagttc	6	10	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.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000529637.1_Missense_Mutation_p.F299C|USP48_ENST00000400301.1_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		Somatic				USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C|USP48_ENST00000421625.2_Missense_Mutation_p.F299C	p.F299C	NM_032236.5	NP_115612.4	WXS	Illumina GAIIx	Phase_I	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	3	47	---	---	---	---	C	22074643	A	C	22074643	3	2	206	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	8745										
RSPO1	284654	broad.mit.edu	37	chr1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttcatgtcggggttgcggGcgtcgaagtatccaggtggg	18	7	1	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.chr1:38082185G>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_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V	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		Somatic				RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V	p.A86V	NM_001038633.3	NP_001033722.1	WXS	Illumina GAIIx	Phase_I	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	5	68	---	---	---	---	A	38082185	G	A	38082185	3	1	206	1	0	0	0	0	1	0	0	0	13709	1203	42	2	550	2	RSPO1	1	38082185	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	16007542	38082185	211168436	2	8746										
FLG	2312	broad.mit.edu	37	chr1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactgtgagtgtctagagctGtccgcctgagtggaagcttc	14	9	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.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		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.D3514E	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	15	281	---	---	---	---	C	152276820	G	C	152276820	3	2	206	1	0	0	0	0	1	0	0	0	5922	1368	48	4	1647	4	FLG	1	152276820	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	114194635	152276820	96973801	3	8747										
SYT11	23208	broad.mit.edu	37	chr1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgtctactacggcagaaagCgcattgccaagaagaaaacc	9	11	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.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		Somatic				SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	p.R342C	NM_152280.4	NP_689493.3	WXS	Illumina GAIIx	Phase_I	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	26	233	---	---	---	---	T	155851027	C	T	155851027	3	4	206	1	0	0	0	0	1	0	0	0	15464	768	27	2	1038	2	SYT11	1	155851027	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	3574207	155851027	93399594	4	8748										
FCGR2A	2212	broad.mit.edu	37	chr1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccctagtgcccagcatggGcagctcttcaccaatgggga	11	13	2	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.chr1:161480636G>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		Somatic				FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	p.G211V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	WXS	Illumina GAIIx	Phase_I	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	7	114	---	---	---	---	T	161480636	G	T	161480636	3	4	206	1	0	0	0	0	1	0	0	0	5781	1203	42	3	650	3	FCGR2A	1	161480636	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	5629609	161480636	87769985	5	8749										
HMCN1	83872	broad.mit.edu	37	chr1	186106992	186106992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcacaaggagctgtggacgCggcaaccaaaccaggaccag	13	12	0	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			Somatic				HMCN1_ENST00000367492.2_Silent_p.R4604R	p.R4604R	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	5	95	---	---	---	---	T	186106992	C	T	186106992	2	4	206	1	0	0	0	0	0	0	0	1	7220	755	27	2		2	HMCN1	1	186106992	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	24626356	186106992	63143629	6	8750										
NEU2	4759	broad.mit.edu	37	chr2	233899740	233899740	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgttcaccctgaagcaagcCttcccagctgagtacctgcc	8	15	1	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.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			Somatic					p.A372A	NM_005383.2	NP_005374.2	WXS	Illumina GAIIx	Phase_I	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	7	136	---	---	---	---	A	233899740	C	A	233899740	2	1	206	1	0	0	0	0	0	0	0	1	10342	668	24	1		1	NEU2	2	233899740	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		233899740	9299633	7	8751										
HYAL1	3373	broad.mit.edu	37	chr3	50340316	50340316	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccggttgggtagcaagggGcccctaaagccttgggccat	16	11	0	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.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000447605.2_Intron|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			Somatic				HYAL1_ENST00000395144.2_Silent_p.G24G|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron	p.G24G			WXS	Illumina GAIIx	Phase_I	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	4	53	---	---	---	---	T	50340316	G	T	50340316	2	4	206	1	0	0	0	0	0	0	0	1	7463	1190	42	3		3	HYAL1	3	50340316	Silent	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		50340316	147682114	8	8752										
ZCCHC4	29063	broad.mit.edu	37	chr4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggaagctcgggaatggaggTggtgcttcctttggatcctg	17	7	0	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	7	100	---	---	---	---	C	25314511	T	C	25314511	3	2	206	1	0	0	0	0	1	0	0	0	17587	1696	59	2	82	2	ZCCHC4	4	25314511	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		25314511	165839765	9	8753										
PCDHB15	56121	broad.mit.edu	37	chr5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaccgagcagagcataaccGtgctggtgtcggacgtcaat	12	10	1	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	56121				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		Somatic					p.V439M	NM_018935.2	NP_061758.1	WXS	Illumina GAIIx	Phase_I	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	7	133	---	---	---	---	A	140626461	G	A	140626461	3	1	206	1	0	0	0	0	1	0	0	0	11540	1145	40	2	1317	2	PCDHB15	5	140626461	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		140626461	40288799	10	8754										
EPO	2056	broad.mit.edu	37	chr7	100320666	100320666	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgaacaatcactgctgacacTttccgcaaactcttccgagt	6	14	2	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.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			Somatic					p.T164T	NM_000799.2	NP_000790.2	WXS	Illumina GAIIx	Phase_I	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	7	149	---	---	---	---	G	100320666	T	G	100320666	2	3	206	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	11	8755										
TBC1D2	55357	broad.mit.edu	37	chr9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcagtagccgatggtggggTtctgccaggagaaggccagc	18	9	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.chr9:100970983T>G	ENST00000375064.1	-	9	2155	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000375066.5_Missense_Mutation_p.N706T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T|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		Somatic				TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	p.N706T	NM_018421.3	NP_060891.3	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	G	100970983	T	G	100970983	3	3	206	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	12	8756										
RBM17	84991	broad.mit.edu	37	chr10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgatgaagcagtacggataTttttagaatttgagagagtt	11	2	0	5			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		Somatic				RBM17_ENST00000379888.4_Missense_Mutation_p.F356L|RBM17_ENST00000476706.1_3'UTR	p.F356L	NM_001145547.1	NP_001139019.1	WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	C	6157238	T	C	6157238	3	2	206	1	0	0	0	0	1	0	0	0	13119	1493	52	2	1104	2	RBM17	10	6157238	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		6157238	129377509	13	8757										
IFT27	11020	broad.mit.edu	37	chr22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggaagatctgtgccagggCggtcttgcccactgctgggt	16	11	2	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_ENST00000453009.2_5'UTR|IFT27_ENST00000340630.5_Missense_Mutation_p.A19T	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		Somatic				IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T	p.A19T	NM_006860.4	NP_006851.1	WXS	Illumina GAIIx	Phase_I	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	13	218	---	---	---	---	T	37163883	C	T	37163883	3	4	206	1	0	0	0	0	1	0	0	0	7559	768	27	2	526	2	IFT27	22	37163883	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		37163883	14140683	14	8758										
MTOR	2475	broad.mit.edu	37	chr1	11169351	11169351	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	cacatgacacactcaccagtGagcttatctcgaaccctgtt	6	14	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			Somatic				MTOR_ENST00000376838.1_Silent_p.L713L	p.L2508L	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	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	4	87	---	---	---	---	T	11169351	G	T	11169351	2	4	207	1	0	0	0	0	0	0	0	1	9954	1277	45	3		3	MTOR	1	11169351	Silent	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		11169351	238081270	1	8759										
SSX2IP	117178	broad.mit.edu	37	chr1	85127952	85127952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	aagaagagaaatcatttcctTtttcatttgttgaagaacct	6	6	2	4			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_ENST00000437941.2_Missense_Mutation_p.K259E|SSX2IP_ENST00000605755.1_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		Somatic				SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E|SSX2IP_ENST00000342203.3_Missense_Mutation_p.K286E|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E|SSX2IP_ENST00000603677.1_Intron	p.K259E	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	C	85127952	T	C	85127952	3	2	207	1	0	0	0	0	1	0	0	0	15203	1850	64	2	1016	2	SSX2IP	1	85127952	Missense_Mutation	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	73958601	85127952	164122669	2	8760										
IQCG	84223	broad.mit.edu	37	chr3	197665464	197665464	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	tctccgtagtcatgatggtcTgccttgtaggttttttgaag	11	7	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.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		Somatic				IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L	p.Q157L	NM_032263.3	NP_115639.1	WXS	Illumina GAIIx	Phase_I	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	17	198	---	---	---	---	A	197665464	T	A	197665464	3	1	207	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		197665464	356966	3	8761										
FGA	2243	broad.mit.edu	37	chr4	155510000	155510000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	attatattagtggtcaacgaAtgagaatccttattgttctt	7	5	2	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.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			Somatic				FGA_ENST00000403106.3_Silent_p.H103H	p.H103H	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	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	8	100	---	---	---	---	G	155510000	A	G	155510000	2	3	207	1	0	0	0	0	0	0	0	1	5830	98	4	2		2	FGA	4	155510000	Silent	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		155510000	35644276	4	8762										
SHROOM1	134549	broad.mit.edu	37	chr5	132158689	132158689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	agcagggcgcaatagacgcgCagctcctccaccggtagtgc	13	14	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.chr5:132158689C>T	ENST00000378679.3	-	10	3162	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Silent_p.L717L|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			Somatic				SHROOM1_ENST00000378676.1_Silent_p.L717L|SHROOM1_ENST00000319854.3_Silent_p.L781L	p.L786L	NM_001172700.1	NP_001166171.1	WXS	Illumina GAIIx	Phase_I	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	4	39	---	---	---	---	T	132158689	C	T	132158689	2	4	207	1	0	0	0	0	0	0	0	1	14293	697	25	2		2	SHROOM1	5	132158689	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		132158689	48756571	5	8763										
ROS1	6098	broad.mit.edu	37	chr6	117662426	117662426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	gttaaacatttccacagtgaCaggatgactctctgtacacc	7	11	1	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.chr6:117662426C>T	ENST00000368508.3	-	30	5149	c.4951G>A	c.(4951-4953)Gtc>Atc	p.V1651I	ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I|GOPC_ENST00000467125.1_Intron	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		Somatic				GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I	p.V1651I	NM_002944.2	NP_002935.2	WXS	Illumina GAIIx	Phase_I	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	4	71	---	---	---	---	T	117662426	C	T	117662426	3	4	207	1	0	0	0	0	1	0	0	0	13531	478	17	2	2148	2	ROS1	6	117662426	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		117662426	53452641	6	8764										
SAMD9	54809	broad.mit.edu	37	chr7	92734007	92734007	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	gtggttttctgttctacataTacacttggaaagtgaaggtt	10	5	2	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.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			Somatic					p.V468V	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	WXS	Illumina GAIIx	Phase_I	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	7	32	---	---	---	---	C	92734007	T	C	92734007	2	2	207	1	0	0	0	0	0	0	0	1	13826	1393	49	2		2	SAMD9	7	92734007	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08		92734007	66404656	7	8765										
NUP205	23165	broad.mit.edu	37	chr7	135279306	135279306	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	aattcttagagtgaaaatgcTcgcttggcactctgtgaaca	9	8	2	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			Somatic				NUP205_ENST00000440390.2_Intron	p.A614A	NM_015135.2	NP_055950	WXS	Illumina GAIIx	Phase_I	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	5	67	---	---	---	---	C	135279306	T	C	135279306	2	2	207	1	0	0	0	0	0	0	0	1	10759	1538	54	2		2	NUP205	7	135279306	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	42545299	135279306	23859357	8	8766										
PAG1	55824	broad.mit.edu	37	chr8	81897133	81897133	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	tggtggggcctcctcttctgGatcacatgaatttccaagga	11	10	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.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		Somatic					p.P252A	NM_018440.3	NP_060910.3	WXS	Illumina GAIIx	Phase_I	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	7	93	---	---	---	---	C	81897133	G	C	81897133	3	2	207	1	0	0	0	0	1	0	0	0	11388	1174	41	4	556	4	PAG1	8	81897133	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		81897133	64466889	9	8767										
PKHD1L1	93035	broad.mit.edu	37	chr8	110442248	110442248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	acattactcccctagtcttgGcgataagcccttctcaaggt	7	13	2	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.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)	Somatic					p.A1071T	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	A	110442248	G	A	110442248	3	1	207	1	0	0	0	0	1	0	0	0	11972	1203	42	2	3317	2	PKHD1L1	8	110442248	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	28545115	110442248	35921774	10	8768										
CYBASC3	220002	broad.mit.edu	37	chr11	61118523	61118523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	gatgaagccagaaggatgtaGagcaccagcagcccaaaggc	13	10	0	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.chr11:61118523G>A	ENST00000294072.4	-	6	1322	c.645C>T	c.(643-645)ctC>ctT	p.L215L	CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000544118.1_Missense_Mutation_p.S89F|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000426130.2_Silent_p.L232L	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			Somatic				CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000294072.4_Silent_p.L215L|CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000426130.2_Silent_p.L232L	p.S89F			WXS	Illumina GAIIx	Phase_I					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	5	27	---	---	---	---	A	61118523	G	A	61118523	2	1	207	1	0	0	0	0	0	0	0	1	4132	929	33	2		2	CYBASC3	11	61118523	Silent	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		61118523	73887993	11	8769										
CFL1	1072	broad.mit.edu	37	chr11	65623504	65623504	+	Frame_Shift_Del	DEL	A	A	-													0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	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_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs			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)tttfs		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		Somatic				CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs	p.F71fs			WXS	Illumina GAIIx	Phase_I	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	207	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	12	8770										
CCDC87	55231	broad.mit.edu	37	chr11	66358990	66358990	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	tggtcagaagagacatggctCatcaactccttgtagacctc	9	11	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.chr11:66358990C>T	ENST00000333861.3	-	1	1564	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_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		Somatic					p.M499I	NM_018219.2	NP_060689.2	WXS	Illumina GAIIx	Phase_I	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	21	106	---	---	---	---	T	66358990	C	T	66358990	3	4	207	1	0	0	0	0	1	0	0	0	2862	826	29	2	1056	2	CCDC87	11	66358990	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	735486	66358990	68647526	13	8771										
ERBB3	2065	broad.mit.edu	37	chr12	56492616	56492616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	cgattggctgaagtaccagaCctgctagagaagggggagcg	16	8	0	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	RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000415288.2_Silent_p.D863D	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			Somatic				ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000415288.2_Silent_p.D863D	p.D922D	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	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	4	78	---	---	---	---	T	56492616	C	T	56492616	2	4	207	1	0	0	0	0	0	0	0	1	5208	506	18	2		2	ERBB3	12	56492616	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		56492616	77359279	14	8772										
MBNL2	10150	broad.mit.edu	37	chr13	98043657	98043657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	taaacattgttactgtacatActatcctgtttcctcctcaa	3	11	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.chr13:98043657A>G	ENST00000376673.3	+	8	1857	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR			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		Somatic				MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR	p.Y359C			WXS	Illumina GAIIx	Phase_I	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	6	66	---	---	---	---	G	98043657	A	G	98043657	3	3	207	1	0	0	0	0	1	0	0	0	9354	391	14	2	1201	2	MBNL2	13	98043657	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		98043657	17126221	15	8773										
PAX9	5083	broad.mit.edu	37	chr14	37132444	37132444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	cggcgtgtgcgacaagtacaAtgtgccctccgtgagctcca	12	13	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.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		Somatic				PAX9_ENST00000402703.2_Missense_Mutation_p.N116S|PAX9_ENST00000554201.1_5'UTR	p.N116S			WXS	Illumina GAIIx	Phase_I	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	13	117	---	---	---	---	G	37132444	A	G	37132444	3	3	207	1	0	0	0	0	1	0	0	0	11486	101	4	2	353	2	PAX9	14	37132444	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		37132444	70217096	16	8774										
NPC2	10577	broad.mit.edu	37	chr14	74959974	74959974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	gaatgtagctgccaggaaacGcatcgcggataacgaagttc	12	9	0	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.chr14:74959974G>A	ENST00000555619.1	-	1	241	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	ISCA2_ENST00000298818.8_5'Flank|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	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		Somatic				NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000555619.1_Missense_Mutation_p.R2C|NPC2_ENST00000434013.2_Missense_Mutation_p.R2C|NPC2_ENST00000238633.2_Missense_Mutation_p.R2C	p.R2C			WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	A	74959974	G	A	74959974	3	1	207	1	0	0	0	0	1	0	0	0	10572	1087	38	2	471	2	NPC2	14	74959974	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	37827530	74959974	32389566	17	8775										
C14orf49	161176	broad.mit.edu	37	chr14	95921914	95921914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	ctcctcctcccagagggcgcGcagcttctccagaactttcc	8	18	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_ENST00000554873.1_Missense_Mutation_p.R70C|SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C	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		Somatic				SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C|SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R70C	p.R313C	NM_152592.3	NP_689805.3	WXS	Illumina GAIIx	Phase_I					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	6	157	---	---	---	---	A	95921914	G	A	95921914	3	1	207	1	0	0	0	0	1	0	0	0	1776	1087	38	2	2042	2	C14orf49	14	95921914	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	20961940	95921914	11427626	18	8776										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	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.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank|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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	11	105	---	---	---	---	C	47696426	A	C	47696426	3	2	207	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	19	8777										
RAB37	326624	broad.mit.edu	37	chr17	72736966	72736966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	ttcctgatccaattcaaagaCggggccttcctgtccggaac	9	13	1	2	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_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392610.1_Silent_p.D51D	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			Somatic				RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron	p.D51D			WXS	Illumina GAIIx	Phase_I	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	18	190	---	---	---	---	T	72736966	C	T	72736966	2	4	207	1	0	0	0	0	0	0	0	1	12927	535	19	2		2	RAB37	17	72736966	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	25040540	72736966	8458244	20	8778										
PLCB1	23236	broad.mit.edu	37	chr20	8639228	8639228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	2	1	1.06887052341598	0	1.17575757575758	0.4	1	0	ttaccgttgatcagatgatgGattttatcaaccttaagcag	8	7	2	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.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		Somatic				PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D247N	p.D247N	NM_182734.1	NP_877398.1	WXS	Illumina GAIIx	Phase_I	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	9	48	---	---	---	---	A	8639228	G	A	8639228	3	1	207	1	0	0	0	0	1	0	0	0	12027	1174	41	2	773	2	PLCB1	20	8639228	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		8639228	54386292	21	8779										
ALX3	257	broad.mit.edu	37	chr1	110604148	110604148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatcttcccataacgctcgCgcttccgccacttggctctg	9	16	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.chr1:110604148C>T	ENST00000369792.4	-	3	719	c.632G>A	c.(631-633)cGc>cAc	p.R211H	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_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		Somatic				RP4-773N10.4_ENST00000554749.1_RNA	p.R211H	NM_006492.2	NP_006483.2	WXS	Illumina GAIIx	Phase_I	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	23	42	---	---	---	---	T	110604148	C	T	110604148	3	4	208	1	0	0	0	0	1	0	0	0	557	768	27	2	407	2	ALX3	1	110604148	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		110604148	138646473	1	8780										
PTPRC	5788	broad.mit.edu	37	chr1	198721481	198721481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacttatacccttcgtgtctTtgaactgagacattccaagg	7	10	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.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_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	16	26	---	---	---	---	C	198721481	T	C	198721481	3	2	208	1	0	0	0	0	1	0	0	0	12797	1841	64	2	3430	2	PTPRC	1	198721481	Missense_Mutation	SNP	T	TCGA-J4-A6M7-01A-11D-A31L-08	88117333	198721481	50529140	2	8781										
GRID2	2895	broad.mit.edu	37	chr4	94138039	94138039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacattgtgtgatccaaagGatccatttgctcagaatatg	8	8	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.chr4:94138039G>T	ENST00000282020.4	+	6	1198	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y|GRID2_ENST00000505687.1_3'UTR	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		Somatic				GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y	p.D314Y	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	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	50	66	---	---	---	---	T	94138039	G	T	94138039	3	4	208	1	0	0	0	0	1	0	0	0	6772	1174	41	3	962	3	GRID2	4	94138039	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		94138039	97016237	3	8782										
PDZD2	23037	broad.mit.edu	37	chr5	32089674	32089674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggccggtgagtccggcagcGtctaggaacggcatgtccgt	17	11	1	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			Somatic				PDZD2_ENST00000282493.3_Silent_p.A2040A	p.A2040A			WXS	Illumina GAIIx	Phase_I	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	12	248	---	---	---	---	A	32089674	G	A	32089674	2	1	208	1	0	0	0	0	0	0	0	1	11701	1132	40	2		2	PDZD2	5	32089674	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		32089674	148825586	4	8783										
TAB2	23118	broad.mit.edu	37	chr6	149700269	149700269	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcatgcggaatcagcccacActcttcatatccacaaactc	5	15	4	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.chr6:149700269A>G	ENST00000367456.1	+	4	1795	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000538427.1_Silent_p.T406T|TAB2_ENST00000392282.1_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			Somatic				TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T	p.T406T			WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	G	149700269	A	G	149700269	2	3	208	1	0	0	0	0	0	0	0	1	15493	146	6	2		2	TAB2	6	149700269	Silent	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		149700269	21414798	5	8784										
AMZ1	155185	broad.mit.edu	37	chr7	2752278	2752278	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccaggccctgcagcgggaAgtggcagaggaggacctggt	17	10	0	1	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		Somatic				AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	p.E421D	NM_133463.1	NP_597720.1	WXS	Illumina GAIIx	Phase_I	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	16	25	---	---	---	---	C	2752278	A	C	2752278	3	2	208	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	6	8785										
VAV2	7410	broad.mit.edu	37	chr9	136857224	136857224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctgcggccggaagttgatGtccttgaggtcgatggagcc	15	9	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		Somatic				VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E	p.D59E			WXS	Illumina GAIIx	Phase_I	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	8	17	---	---	---	---	T	136857224	G	T	136857224	3	4	208	1	0	0	0	0	1	0	0	0	17129	1368	48	3	2579	3	VAV2	9	136857224	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		136857224	4356207	7	8786										
PDE1B	5153	broad.mit.edu	37	chr12	54966490	54966490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgcagccgatgttacccagAcagtccattgcttcttgctc	8	14	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.chr12:54966490A>G	ENST00000243052.3	+	7	1136	c.700A>G	c.(700-702)Aca>Gca	p.T234A	PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A	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	5153				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		Somatic				PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000394277.3_3'UTR	p.T234A	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	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	32	301	---	---	---	---	G	54966490	A	G	54966490	3	3	208	1	0	0	0	0	1	0	0	0	11634	275	10	2	779	2	PDE1B	12	54966490	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		54966490	78885405	8	8787										
RYR3	6263	broad.mit.edu	37	chr15	33795933	33795933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacacaggtgaaaatggcggCgaaggggtgagtacccgaat	15	7	0	2	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			Somatic				RYR3_ENST00000415757.3_Silent_p.G91G	p.G91G	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	T	33795933	C	T	33795933	2	4	208	1	0	0	0	0	0	0	0	1	13770	755	27	2		2	RYR3	15	33795933	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		33795933	68735459	9	8788										
CNTNAP1	8506	broad.mit.edu	37	chr17	40843294	40843294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccttgtactgcaactgtgaCgctgaccagccccagtggtg	12	13	0	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			Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.D733D	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	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	65	109	---	---	---	---	T	40843294	C	T	40843294	2	4	208	1	0	0	0	0	0	0	0	1	3646	535	19	2		2	CNTNAP1	17	40843294	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		40843294	40351916	10	8789										
MC3R	4159	broad.mit.edu	37	chr20	54823920	54823920	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaatgcttcgtgctgcctGccctctgttcagccaacact	8	14	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.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			Somatic					p.L7L	NM_019888.3	NP_063941.3	WXS	Illumina GAIIx	Phase_I	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	66	117	---	---	---	---	T	54823920	G	T	54823920	2	4	208	1	0	0	0	0	0	0	0	1	9365	1306	46	3		3	MC3R	20	54823920	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		54823920	8201600	11	8790										
CCT8L2	150160	broad.mit.edu	37	chr22	17071981	17071981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccccttcctgggccacaTttattatcccttcagttccc	4	17	1	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.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		Somatic					p.N487I	NM_014406.4	NP_055221.1	WXS	Illumina GAIIx	Phase_I	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	64	92	---	---	---	---	A	17071981	T	A	17071981	3	1	208	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	12	8791										
KCNJ4	3761	broad.mit.edu	37	chr22	38823055	38823055	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagggggcggtggggcgggCagcacggtgatcttactctc	20	9	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.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			Somatic				RP3-434P1.6_ENST00000433230.1_RNA	p.L361L	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	G	38823055	C	G	38823055	2	3	208	1	0	0	0	0	0	0	0	1	8053	697	25	4		4	KCNJ4	22	38823055	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08	21751074	38823055	12481511	13	8792										
PNPLA4	8228	broad.mit.edu	37	chrX	7880088	7880088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgccctttgtattccactAgcttcagtcctgcataaatg	6	13	1	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.chrX:7880088A>G	ENST00000381042.4	-	5	628	c.458T>C	c.(457-459)cTa>cCa	p.L153P	PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P|PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P	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		Somatic				PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P	p.L153P	NM_004650.2	NP_004641.1	WXS	Illumina GAIIx	Phase_I	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	34	5	---	---	---	---	G	7880088	A	G	7880088	3	3	208	1	0	0	0	0	1	0	0	0	12167	420	15	2	315	2	PNPLA4	23	7880088	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		7880088	147390472	14	8793										
EXOSC10	5394	broad.mit.edu	37	chr1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	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)aaagtgfs		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		Somatic				EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs	p.V103fs			WXS	Illumina GAIIx	Phase_I	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)	103					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	209	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	8794										
LRRC8C	84230	broad.mit.edu	37	chr1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctgcaagaaacttaaaaCtctgaagattggaaaaaaca	6	7	2	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	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	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		Somatic				LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.T733S	NM_032270.4	NP_115646	WXS	Illumina GAIIx	Phase_I	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	4	99	---	---	---	---	G	90180327	C	G	90180327	3	3	209	1	0	0	0	0	1	0	0	0	9023	565	20	4	2204	4	LRRC8C	1	90180327	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	79024447	90180327	159070294	2	8795										
COL11A1	1301	broad.mit.edu	37	chr1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtcacagttttcttctccAcgctgattgctacccgatgc	7	13	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.chr1:103540313A>T	ENST00000370096.3	-	4	824	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000358392.2_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		Somatic				COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E	p.V171E	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	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	25	40	---	---	---	---	T	103540313	A	T	103540313	3	4	209	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	8796										
ORMDL1	94101	broad.mit.edu	37	chr2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atacttcgtatagaaacttgCcagaaaatatctgtagagat	7	6	1	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.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T			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		Somatic				ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T	p.A113T			WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	T	190636618	C	T	190636618	3	4	209	1	0	0	0	0	1	0	0	0	11269	739	26	2	128	2	ORMDL1	2	190636618	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		190636618	52562755	4	8797										
PASK	23178	broad.mit.edu	37	chr2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccatcccagaggggctggGggccaagtcctggcttcgcc	15	14	0	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_ENST00000403638.3_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S	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		Somatic				PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S	p.P628S	NM_001252124.1	NP_001239053.1	WXS	Illumina GAIIx	Phase_I	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	53	44	---	---	---	---	A	242066448	G	A	242066448	3	1	209	1	0	0	0	0	1	0	0	0	11472	1232	43	2	2125	2	PASK	2	242066448	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	51429830	242066448	1132925	5	8798										
MFI2	4241	broad.mit.edu	37	chr3	196742335	196742335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccacggccatgtctccacaCttctggatctcgggagtgga	12	13	3	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.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			Somatic					p.K378K	NM_005929.5	NP_005920.2	WXS	Illumina GAIIx	Phase_I	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	6	6	---	---	---	---	T	196742335	C	T	196742335	2	4	209	1	0	0	0	0	0	0	0	1	9522	564	20	2		2	MFI2	3	196742335	Silent	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		196742335	1280095	6	8799										
DCHS2	54798	broad.mit.edu	37	chr4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctctgtcgatggcaaagaCgcctggctgcgggctggcga	17	11	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.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																																						ENST00000357232.4																			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		Somatic				DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	p.V526I	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1575	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	17	29	---	---	---	---	T	155254287	C	T	155254287	3	4	209	1	0	0	0	0	1	0	0	0	4288	536	19	2	7338	2	DCHS2	4	155254287	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		155254287	35899989	7	8800										
DDX46	9879	broad.mit.edu	37	chr5	134152276	134152276	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaatcaatgcccagaagaatTtgggcatcgagtctcaggta	11	8	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.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			Somatic				DDX46_ENST00000354283.4_Silent_p.L865L	p.L865L	NM_014829.2	NP_055644.2	WXS	Illumina GAIIx	Phase_I	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	36	45	---	---	---	---	C	134152276	T	C	134152276	2	2	209	1	0	0	0	0	0	0	0	1	4364	1838	64	2		2	DDX46	5	134152276	Silent	SNP	T	TCGA-J4-A83I-01A-11D-A364-08		134152276	46762984	8	8801										
PCDHB6	56130	broad.mit.edu	37	chr5	140531920	140531920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggtggtggcgttggcctcGgtgtcgtcgctcttcctctt	14	12	2	0	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	56130				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			Somatic				PCDHB6_ENST00000543635.1_Silent_p.S558S	p.S694S	NM_018939.2	NP_061762.1	WXS	Illumina GAIIx	Phase_I	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	77	123	---	---	---	---	A	140531920	G	A	140531920	2	1	209	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	9	8802										
FILIP1	27145	broad.mit.edu	37	chr6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctatttgatttcttcttcTtttttgcatcttctgagaga	5	8	5	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.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		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T	p.K38T			WXS	Illumina GAIIx	Phase_I	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	80	92	---	---	---	---	G	76124576	T	G	76124576	3	3	209	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		76124576	94990491	10	8803										
FZD6	8323	broad.mit.edu	37	chr8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcaaatctggaatgttcacCaaacattgaaactttcctct	5	11	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.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		Somatic				FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L	p.P71L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	WXS	Illumina GAIIx	Phase_I	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	43	50	---	---	---	---	T	104330852	C	T	104330852	3	4	209	1	0	0	0	0	1	0	0	0	6134	594	21	2	218	2	FZD6	8	104330852	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08		104330852	42033170	11	8804										
RNF20	56254	broad.mit.edu	37	chr9	104314097	104314097	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acccttgctgccaatgaacaAgcaggtataatgattctcac	7	11	1	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.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			Somatic					p.Q468Q	NM_019592.5	NP_062538.5	WXS	Illumina GAIIx	Phase_I	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	31	44	---	---	---	---	G	104314097	A	G	104314097	2	3	209	1	0	0	0	0	0	0	0	1	13473	69	3	2		2	RNF20	9	104314097	Silent	SNP	A	TCGA-J4-A83I-01A-11D-A364-08		104314097	36899334	12	8805										
C10orf140	387640	broad.mit.edu	37	chr10	21804625	21804625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctttgtatcattgcactcGcactttagcttatttgtaaa	5	10	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.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			Somatic				SKIDA1_ENST00000444772.3_Silent_p.C630C	p.C709C	NM_207371.3	NP_997254.3	WXS	Illumina GAIIx	Phase_I					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	4	195	---	---	---	---	A	21804625	G	A	21804625	2	1	209	1	0	0	0	0	0	0	0	1	1595	1079	38	2		2	C10orf140	10	21804625	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		21804625	113730122	13	8806										
OR4P4	81300	broad.mit.edu	37	chr11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	0	0	1	1	0	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)gaafs		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		Somatic					p.E2fs	NM_001004124.1	NP_001004124.1	WXS	Illumina GAIIx	Phase_I	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	209	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		55405837	79600679	14	8807										
ZW10	9183	broad.mit.edu	37	chr11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaattcactgtacttcttGctaatcatattgcacacctc	5	11	3	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.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		Somatic					p.S43R	NM_004724.3	NP_004715.1	WXS	Illumina GAIIx	Phase_I	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	35	59	---	---	---	---	C	113639666	G	C	113639666	3	2	209	1	0	0	0	0	1	0	0	0	18244	1310	46	4	2270	4	ZW10	11	113639666	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	58233829	113639666	21366850	15	8808										
NINJ2	4815	broad.mit.edu	37	chr12	772599	772599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggctcctccaggctccgcCgtctgagtctctgctgcttt	11	15	2	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			Somatic				RP11-218M22.1_ENST00000543884.1_RNA	p.T22T	NM_016533.4	NP_057617.2	WXS	Illumina GAIIx	Phase_I	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	4	92	---	---	---	---	T	772599	C	T	772599	2	4	209	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	16	8809										
KIF5A	3798	broad.mit.edu	37	chr12	57957899	57957899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcactcgccagggaaagctGcacgaccctcagctgatggg	12	13	2	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			Somatic				KIF5A_ENST00000286452.5_Intron	p.L100L	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	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	18	31	---	---	---	---	A	57957899	G	A	57957899	2	1	209	1	0	0	0	0	0	0	0	1	8305	1306	46	2		2	KIF5A	12	57957899	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	57185300	57957899	75893996	17	8810										
FAM71C	196472	broad.mit.edu	37	chr12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttgagagcgactttatccAgatcagcaaaagaggagaag	12	6	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.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_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		Somatic				ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	p.Q52R	NM_153364.3	NP_699195.1	WXS	Illumina GAIIx	Phase_I	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	31	64	---	---	---	---	G	100042107	A	G	100042107	3	3	209	1	0	0	0	0	1	0	0	0	5609	188	7	2	157	2	FAM71C	12	100042107	Missense_Mutation	SNP	A	TCGA-J4-A83I-01A-11D-A364-08	42084208	100042107	33809788	18	8811										
SRRM4	84530	broad.mit.edu	37	chr12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagacgtcggtcctactcgCctatgagaaagcgccggaga	14	11	0	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.chr12:119592130C>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		Somatic					p.P492T	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	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	6	16	---	---	---	---	A	119592130	C	A	119592130	3	1	209	1	0	0	0	0	1	0	0	0	15170	739	26	3	1520	3	SRRM4	12	119592130	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	19550023	119592130	14259765	19	8812										
ITGAX	3687	broad.mit.edu	37	chr16	31382406	31382406	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttctctcctctggccagcGgatcgcgggctcccagctct	10	18	3	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.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.(1711-1713)cGg>cAg		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			Somatic				ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	p.R571Q	NM_000887.3	NP_000878.2	WXS	Illumina GAIIx	Phase_I	P20702	ITAX_HUMAN			15	1833	+			571					Q8IVA6	Splice_Site	SNP	ENST00000268296.4	37	c.1712G>A	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	4	117	---	---	---	---	A	31382406	G	A	31382406	5	1	209	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	20	8813										
RABEP1	9135	broad.mit.edu	37	chr17	5264971	5264971	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatctcttgcagaaagagGtgagttacctttctcacgtt	10	8	2	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.chr17:5264971G>C	ENST00000546142.2	+	9	1750		c.e9+1		RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000262477.6_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|NUP88_ENST00000573169.1_5'UTR			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			Somatic				RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR		NM_004703.4	NP_004694.2	WXS	Illumina GAIIx	Phase_I	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	6	9	---	---	---	---	C	5264971	G	C	5264971	5	2	209	1	0	0	0	0	0	0	1	0	12961	1275	44	4	1598	4	RABEP1	17	5264971	Splice_Site	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		5264971	75930239	21	8814										
CYP4F3	4051	broad.mit.edu	37	chr19	15763396	15763396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggatgaagatgggaagaaGttgtccgatgaggacataag	15	4	0	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.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																																						ENST00000221307.8																			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			Somatic				CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	p.K312K	NM_000896.2	NP_000887.2	WXS	Illumina GAIIx	Phase_I	Q08477	CP4F3_HUMAN			8	983	+								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	5	119	---	---	---	---	A	15763396	G	A	15763396	2	1	209	1	0	0	0	0	0	0	0	1	4190	1020	36	2		2	CYP4F3	19	15763396	Silent	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		15763396	43365587	22	8815										
EPB41L1	2036	broad.mit.edu	37	chr20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	acggtcagaggctgaggaggGagaggtcaggactccaacca	16	9	2	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.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E	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		Somatic				EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E	p.G471E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	A	34782245	G	A	34782245	3	1	209	1	0	0	0	0	1	0	0	0	5152	1174	41	2	1454	2	EPB41L1	20	34782245	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		34782245	28243275	23	8816										
SLC12A5	57468	broad.mit.edu	37	chr20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctcctacctgaccaagggcGtgattgtggagaggagtggg	17	8	0	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.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																																						ENST00000243964.3																			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.(1099-1101)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		Somatic				SLC12A5_ENST00000454036.2_Missense_Mutation_p.V390M	p.V367M	NM_020708.4	NP_065759.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			9	1197	+		Myeloproliferative disorder(115;0.0122)	390					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1099G>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	77	105	---	---	---	---	A	44671824	G	A	44671824	3	1	209	1	0	0	0	0	1	0	0	0	14386	1145	40	2	1258	2	SLC12A5	20	44671824	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08	9889579	44671824	18353696	24	8817										
MXRA5	25878	broad.mit.edu	37	chrX	3235405	3235405	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgaggttgcggatgtagagcGtcccgttggggaaaacaaac	15	8	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.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		Somatic					p.T2106R	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	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	10	2	---	---	---	---	C	3235405	G	C	3235405	3	2	209	1	0	0	0	0	1	0	0	0	10003	1145	40	4	2177	4	MXRA5	23	3235405	Missense_Mutation	SNP	G	TCGA-J4-A83I-01A-11D-A364-08		3235405	152035155	25	8818										
FANCB	2187	broad.mit.edu	37	chrX	14883152	14883152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagttacctgacacactaaCaactttgccagtttgagaag	7	9	0	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.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		Somatic				FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	p.V161F	NM_001018113.1	NP_001018123.1	WXS	Illumina GAIIx	Phase_I	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	35	8	---	---	---	---	A	14883152	C	A	14883152	3	1	209	1	0	0	0	0	1	0	0	0	5663	478	17	3	2130	3	FANCB	23	14883152	Missense_Mutation	SNP	C	TCGA-J4-A83I-01A-11D-A364-08	11647747	14883152	140387408	26	8819										
CPNE9	151835	broad.mit.edu	37	chr3	9754692	9754692	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	cacaagacagaggttgtgaaAaacacgctgaatcctgtgtg	11	8	0	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.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		Somatic				CPNE9_ENST00000383831.3_Missense_Mutation_p.K193N	p.K193N	NM_153635.2	NP_705899.2	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	C	9754692	A	C	9754692	3	2	210	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	1	8820										
BCHE	590	broad.mit.edu	37	chr3	165491285	165491285	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	tccactcccattctgcttcaTcaatatttcctgtaaaatat	2	12	3	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.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		Somatic				BCHE_ENST00000540653.1_Missense_Mutation_p.D27V	p.D565V	NM_000055.2	NP_000046.1	WXS	Illumina GAIIx	Phase_I	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	20	52	---	---	---	---	A	165491285	T	A	165491285	3	1	210	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	2	8821										
C6	729	broad.mit.edu	37	chr5	41172406	41172406	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gcaaataaaacgcgtttcttTgtttcaatcctgacacagtg	7	9	2	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.chr5:41172406T>A	ENST00000263413.3	-	9	1476	c.1212A>T	c.(1210-1212)acA>acT	p.T404T	C6_ENST00000337836.5_Silent_p.T404T|C6_ENST00000475349.1_5'UTR	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			Somatic				C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T404T	p.T404T	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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	5	53	---	---	---	---	A	41172406	T	A	41172406	2	1	210	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	3	8822										
AGGF1	55109	broad.mit.edu	37	chr5	76332448	76332448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	atcattagctgaaagtttgaGagctgcagcagaagcggctg	13	7	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.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		Somatic					p.R195K	NM_018046.4	NP_060516.2	WXS	Illumina GAIIx	Phase_I	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	4	141	---	---	---	---	A	76332448	G	A	76332448	3	1	210	1	0	0	0	0	1	0	0	0	382	942	33	2	598	2	AGGF1	5	76332448	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	35160042	76332448	104582812	4	8823										
SH3TC2	79628	broad.mit.edu	37	chr5	148407722	148407722	+	Frame_Shift_Del	DEL	A	A	-													0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	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_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000538184.1_Frame_Shift_Del_p.W72fs	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)tggfs		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		Somatic				SH3TC2_ENST00000394358.2_Frame_Shift_Del_p.W410fs|SH3TC2_ENST00000512049.1_Frame_Shift_Del_p.W518fs|SH3TC2_ENST00000515425.1_Frame_Shift_Del_p.W525fs	p.W72fs			WXS	Illumina GAIIx	Phase_I	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	210	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	72075274	148407722	32507538	5	8824										
ZSCAN16	80345	broad.mit.edu	37	chr6	28097612	28097612	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gcacaggtcttattcagcatCagagaatccacacaggtgaa	9	10	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_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_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*		Somatic				ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	p.Q311*	NM_025231.1	NP_079507.1	WXS	Illumina GAIIx	Phase_I	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	5	48	---	---	---	---	T	28097612	C	T	28097612	4	4	210	1	0	0	0	0	0	1	0	0	18226	827	29	2	941	2	ZSCAN16	6	28097612	Nonsense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		28097612	143017455	6	8825										
BACH2	60468	broad.mit.edu	37	chr6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gtaggcctgcgagctggggaGggactggccggctcccaccc	17	14	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.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|BACH2_ENST00000343122.3_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		Somatic				BACH2_ENST00000343122.3_Missense_Mutation_p.L474F|BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	p.L474F	NM_021813.2	NP_068585.1	WXS	Illumina GAIIx	Phase_I	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	17	31	---	---	---	---	A	90660405	G	A	90660405	3	1	210	1	0	0	0	0	1	0	0	0	1284	1000	35	2	1117	2	BACH2	6	90660405	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	62562793	90660405	80454662	7	8826										
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215999	123215999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	tcagttcatcatgtggcttgGaaaatgagttggtttggaca	12	5	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.chr9:123215999G>A	ENST00000349780.4	-	21	2707	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F	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		Somatic				CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S843F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S811F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S843F	p.S843F	NM_018249.4	NP_060719.4	WXS	Illumina GAIIx	Phase_I	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	5	127	---	---	---	---	A	123215999	G	A	123215999	3	1	210	1	0	0	0	0	1	0	0	0	3146	1174	41	2	3225	2	CDK5RAP2	9	123215999	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		123215999	17997432	8	8827										
SORCS1	114815	broad.mit.edu	37	chr10	108431072	108431072	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	tttccttgcatacacttccgCtctgattttcgcttcttata	4	12	2	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.chr10:108431072C>G	ENST00000263054.6	-	16	2119	c.2112G>C	c.(2110-2112)gaG>gaC	p.E704D	SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D|SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D	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		Somatic				SORCS1_ENST00000344440.6_Missense_Mutation_p.E704D|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239D	p.E704D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	G	108431072	C	G	108431072	3	3	210	1	0	0	0	0	1	0	0	0	14930	796	28	4	1672	4	SORCS1	10	108431072	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		108431072	27103675	9	8828										
FGFR2	2263	broad.mit.edu	37	chr10	123325040	123325040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	ccggagtctctaggcgtggcGccctttatctgcaagtactc	11	13	2	0	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_ENST00000356226.4_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000351936.6_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			Somatic				FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G	p.G96G	NM_000141.4	NP_000132.3	WXS	Illumina GAIIx	Phase_I	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	6	123	---	---	---	---	A	123325040	G	A	123325040	2	1	210	1	0	0	0	0	0	0	0	1	5866	1074	38	2		2	FGFR2	10	123325040	Silent	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08	14893968	123325040	12209707	10	8829										
LGR5	8549	broad.mit.edu	37	chr12	71978097	71978097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	tctatggtaaaacacattgcCctgttgctcttcaccaactg	6	12	3	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.chr12:71978097C>A	ENST00000266674.5	+	18	2618	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A|RP11-186F10.2_ENST00000546601.1_RNA			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			Somatic				LGR5_ENST00000540815.2_Silent_p.A745A|LGR5_ENST00000536515.1_Silent_p.A697A	p.A769A			WXS	Illumina GAIIx	Phase_I	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	24	85	---	---	---	---	A	71978097	C	A	71978097	2	1	210	1	0	0	0	0	0	0	0	1	8757	610	22	1		1	LGR5	12	71978097	Silent	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		71978097	61873798	11	8830										
VPS29	51699	broad.mit.edu	37	chr12	110930973	110930973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	ccatggaataacttgatgtcCatggatcagaccaattttga	8	8	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.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_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000447578.2_5'UTR	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		Somatic				VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G119R|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G91R	p.G87R	NM_016226.3	NP_057310.1	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	T	110930973	C	T	110930973	3	4	210	1	0	0	0	0	1	0	0	0	17197	603	21	2	297	2	VPS29	12	110930973	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	38952876	110930973	22920922	12	8831										
THSD1	55901	broad.mit.edu	37	chr13	52951824	52951824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gtgactgggggacggtccccGacgagctctgtggggctctg	18	11	2	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.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		Somatic				THSD1_ENST00000258613.4_Missense_Mutation_p.R761W|THSD1_ENST00000544466.1_Missense_Mutation_p.R382W	p.R708W	NM_199263.2	NP_954872.1	WXS	Illumina GAIIx	Phase_I	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	13	106	---	---	---	---	A	52951824	G	A	52951824	3	1	210	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	13	8832										
ARNT2	9915	broad.mit.edu	37	chr15	80806707	80806707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gagaagcccaatatgctgtgGtccactgtacaggatacatc	10	10	0	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.chr15:80806707G>C	ENST00000303329.4	+	8	1003	c.838G>C	c.(838-840)Gtc>Ctc	p.V280L	ARNT2_ENST00000533983.1_Missense_Mutation_p.V269L|ARNT2_ENST00000527771.1_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		Somatic				ARNT2_ENST00000527771.1_Missense_Mutation_p.V269L|ARNT2_ENST00000303329.4_Missense_Mutation_p.V280L	p.V269L			WXS	Illumina GAIIx	Phase_I	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	55	121	---	---	---	---	C	80806707	G	C	80806707	3	2	210	1	0	0	0	0	1	0	0	0	966	1261	44	4	868	4	ARNT2	15	80806707	Missense_Mutation	SNP	G	TCGA-J4-A83K-01A-11D-A34U-08		80806707	21724685	14	8833										
CREBBP	1387	broad.mit.edu	37	chr16	3817735	3817735	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gcctactttttttgcgcggcTgcgaaggagatgttgactga	13	8	0	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.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		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1041R	p.Q1079R	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	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	5	110	---	---	---	---	C	3817735	T	C	3817735	3	2	210	1	0	0	0	0	1	0	0	0	3861	1580	55	2	4156	2	CREBBP	16	3817735	Missense_Mutation	SNP	T	TCGA-J4-A83K-01A-11D-A34U-08		3817735	86537018	15	8834										
COIL	8161	broad.mit.edu	37	chr17	55028138	55028138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	ttttttttgctgacagtctgAtctgtgacagcttttggttc	9	7	2	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.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		Somatic					p.D155E	NM_004645.2	NP_004636.1	WXS	Illumina GAIIx	Phase_I	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	4	165	---	---	---	---	C	55028138	A	C	55028138	3	2	210	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		55028138	26167072	16	8835										
POU2F2	5452	broad.mit.edu	37	chr19	42597984	42597985	+	Missense_Mutation	DNP	TT	TT	GC													0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	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.chr19:42597984_42597985TT>GC	ENST00000526816.2	-	12	1209_1210	c.1194_1195AA>GC	c.(1192-1197)acAAca>acGCca	p.T399P	POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|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)	CCCTGACCTGTTGTGCTCAGAC	0.609																																						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|c.(1144-1146)acA>acG		POU class 2 homeobox 2																																				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|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.1194_1195delinsGC	19.37:g.42597984_42597985delinsGC	ENSP00000431603:p.Thr399Pro		Somatic				POU2F2_ENST00000533720.1_Missense_Mutation_p.T383P|POU2F2_ENST00000529952.1_Missense_Mutation_p.T399P|POU2F2_ENST00000529067.1_Missense_Mutation_p.T383P|POU2F2_ENST00000560398.1_Missense_Mutation_p.T405P|POU2F2_ENST00000526816.2_Missense_Mutation_p.T399P|POU2F2_ENST00000342301.4_Missense_Mutation_p.T399P|POU2F2_ENST00000560558.1_Missense_Mutation_p.T344P|POU2F2_ENST00000533720.1_Silent_p.T382T|POU2F2_ENST00000529952.1_Silent_p.T398T|POU2F2_ENST00000529067.1_Silent_p.T382T|POU2F2_ENST00000560398.1_Silent_p.T404T|POU2F2_ENST00000526816.2_Silent_p.T398T|POU2F2_ENST00000342301.4_Silent_p.T398T|POU2F2_ENST00000560558.1_Silent_p.T343T	p.T383P|p.T382T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			12	1213|1212	-		Prostate(69;0.059)	399|398					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation|Silent	SNP	ENST00000526816.2	37	c.1147A>C|c.1146A>G	CCDS56095.1																																																																																				0.609	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			5	142|141	5	141	---	---	---	---	GC	42597985	TT	GC	42597984	3	3	210	1	0	0	0	0	1	0	0	0	12272	1725	60	5	256	5	POU2F2	19	42597984	Missense_Mutation	DNP	TT	TCGA-J4-A83K-01A-11D-A34U-08		42597984	16530999	17	8836										
PNMAL2	57469	broad.mit.edu	37	chr19	46997772	46997772	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	gtttcttggtccccactttcCtgcgagtcgctctccgaagt	9	14	2	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.chr19:46997772C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'UTR|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			Somatic				AC011484.1_ENST00000377652.3_5'UTR|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.Q317Q	NM_020709.1	NP_065760.1	WXS	Illumina GAIIx	Phase_I	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	10	86	---	---	---	---	T	46997772	C	T	46997772	1	4	210	0	1	0	0	0	0	0	0	0	12158	680	24	2		2	PNMAL2	19	46997772	Intron	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08	4399788	46997772	12131211	18	8837										
DEFB118	117285	broad.mit.edu	37	chr20	29960700	29960700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.18531468531469	0	1.62980769230769	0.333333333333333	1	0	tgctggaacagatcagggcaCtgcaggaaacaatgcaaaga	12	8	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.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		Somatic					p.H33Q	NM_054112.2	NP_473453.1	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	G	29960700	C	G	29960700	3	3	210	1	0	0	0	0	1	0	0	0	4406	564	20	4	105	4	DEFB118	20	29960700	Missense_Mutation	SNP	C	TCGA-J4-A83K-01A-11D-A34U-08		29960700	33064820	19	8838										
MEGF6	1953	broad.mit.edu	37	chr1	3422030	3422030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agccagccttgcaggagcagCtgccatccctcttgtcacag	10	15	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.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		Somatic				MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	p.S670N	NM_001409.3	NP_001400.3	WXS	Illumina GAIIx	Phase_I	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	3	17	---	---	---	---	T	3422030	C	T	3422030	3	4	211	1	0	0	0	0	1	0	0	0	9462	797	28	2	2704	2	MEGF6	1	3422030	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		3422030	245828591	1	8839										
UBR4	23352	broad.mit.edu	37	chr1	19480294	19480294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggaagagtcttaatctcctGgataagaaaagtgtctggtt	11	5	3	2	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_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_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*		Somatic				UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*	p.Q2200*			WXS	Illumina GAIIx	Phase_I	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	27	66	---	---	---	---	A	19480294	G	A	19480294	4	1	211	1	0	0	0	0	0	1	0	0	16901	1357	47	2	9201	2	UBR4	1	19480294	Nonsense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	16058264	19480294	229770327	2	8840										
DOCK7	85440	broad.mit.edu	37	chr1	63048923	63048923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagctagatttaccaaagatTacctgaaacaaataacagca	5	9	0	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.chr1:63048923T>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			Somatic				DOCK7_ENST00000340370.5_Silent_p.V601V	p.V601V	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	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	4	124	---	---	---	---	C	63048923	T	C	63048923	2	2	211	1	0	0	0	0	0	0	0	1	4692	1741	61	2		2	DOCK7	1	63048923	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	43568629	63048923	186201698	3	8841										
IFI16	3428	broad.mit.edu	37	chr1	159002391	159002391	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaacagcgtcagcttccataTccttcagaggccagcacaac	8	14	2	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.chr1:159002391T>A	ENST00000295809.7	+	7	1494	c.1239T>A	c.(1237-1239)taT>taA	p.Y413*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368131.4_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*		Somatic				IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*	p.Y413*			WXS	Illumina GAIIx	Phase_I	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	8	35	---	---	---	---	A	159002391	T	A	159002391	4	1	211	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	95953468	159002391	90248230	4	8842										
TTN	7273	broad.mit.edu	37	chr2	179635207	179635207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cataaacagactcatccacgAtggcacagtttttaatcctc	5	12	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.chr2:179635207A>G	ENST00000591111.1	-	35	8536	c.8312T>C	c.(8311-8313)aTc>aCc	p.I2771T	TTN_ENST00000589042.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T			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		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T	p.I2771T	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	G	179635207	A	G	179635207	3	3	211	1	0	0	0	0	1	0	0	0	16732	333	12	2	102988	2	TTN	2	179635207	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		179635207	63564166	5	8843										
CAPN7	23473	broad.mit.edu	37	chr3	15292459	15292459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caatatagcgttggatttgaGgttgtaacagtttctactct	9	6	2	1	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		Somatic					p.E742D	NM_014296.2	NP_055111.1	WXS	Illumina GAIIx	Phase_I	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	3	78	---	---	---	---	T	15292459	G	T	15292459	3	4	211	1	0	0	0	0	1	0	0	0	2631	991	35	1	2304	1	CAPN7	3	15292459	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08		15292459	182729971	6	8844										
ABHD6	57406	broad.mit.edu	37	chr3	58279458	58279458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatcgactttttagcttctgTgcacaacacagacaacaaca	5	11	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.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		Somatic				ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G	p.V327G			WXS	Illumina GAIIx	Phase_I	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	10	36	---	---	---	---	G	58279458	T	G	58279458	3	3	211	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	7	8845										
ADAMTS12	81792	broad.mit.edu	37	chr5	33658389	33658389	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acacattcctgaaaggtgagAcaggcccagggtctcgcagg	13	11	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.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)	Somatic				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T|ADAMTS12_ENST00000504582.1_5'UTR	p.S364T	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	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	30	50	---	---	---	---	T	33658389	A	T	33658389	3	4	211	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	8	8846										
CCDC146	57639	broad.mit.edu	37	chr7	76885704	76885704	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcactgaagaattacgtaaaGaaataatgcagaagaaatta	8	4	0	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.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*		Somatic				CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	p.E188*	NM_020879.2	NP_065930.2	WXS	Illumina GAIIx	Phase_I	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	6	26	---	---	---	---	T	76885704	G	T	76885704	4	4	211	1	0	0	0	0	0	1	0	0	2780	943	33	3	580	3	CCDC146	7	76885704	Nonsense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08		76885704	82252959	9	8847										
PON3	5446	broad.mit.edu	37	chr7	94996690	94996690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ataccttttgagaagttcatGttttatagttttcaggtata	7	4	2	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.chr7:94996690G>T	ENST00000265627.5	-	5	488	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON3_ENST00000451904.1_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		Somatic				PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron	p.H160N	NM_000940.2	NP_000931.1	WXS	Illumina GAIIx	Phase_I			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	5	94	---	---	---	---	T	94996690	G	T	94996690	3	4	211	1	0	0	0	0	1	0	0	0	12250	1377	48	3	606	3	PON3	7	94996690	Missense_Mutation	SNP	G	TCGA-J4-A83M-01A-11D-A34U-08	18110986	94996690	64141973	10	8848										
TP53INP1	94241	broad.mit.edu	37	chr8	95952206	95952206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcaatgagaaggttttccaTaggacttgtttccaccttga	8	8	1	2	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	94241				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		Somatic				TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V	p.M119V	NM_033285.3	NP_150601.1	WXS	Illumina GAIIx	Phase_I	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	10	45	---	---	---	---	C	95952206	T	C	95952206	3	2	211	1	0	0	0	0	1	0	0	0	16385	1406	49	2	401	2	TP53INP1	8	95952206	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		95952206	50411816	11	8849										
NPDC1	56654	broad.mit.edu	37	chr9	139935547	139935547	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	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)ctafs		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		Somatic				NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs|NPDC1_ENST00000488145.1_5'UTR	p.L196fs			WXS	Illumina GAIIx	Phase_I	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	211	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		139935547	1277884	12	8850										
ZEB1	6935	broad.mit.edu	37	chr10	31815612	31815612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttgcaggtaaaagacctcAtgagtgtggaatctgtaaaa	10	5	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.chr10:31815612A>G	ENST00000320985.10	+	9	2905	c.2795A>G	c.(2794-2796)cAt>cGt	p.H932R	ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000446923.2_Missense_Mutation_p.H916R|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		Somatic				ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R	p.H916R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	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	9	27	---	---	---	---	G	31815612	A	G	31815612	3	3	211	1	0	0	0	0	1	0	0	0	17620	217	8	2	2843	2	ZEB1	10	31815612	Missense_Mutation	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08		31815612	103719135	13	8851										
TSG101	7251	broad.mit.edu	37	chr11	18541081	18541081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcaccatatgaatccaaaaCaggtttgagatctttgtata	6	8	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.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		Somatic				TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I	p.V38I			WXS	Illumina GAIIx	Phase_I	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	53	110	---	---	---	---	T	18541081	C	T	18541081	3	4	211	1	0	0	0	0	1	0	0	0	16613	478	17	2	1096	2	TSG101	11	18541081	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		18541081	116465435	14	8852										
MUC15	143662	broad.mit.edu	37	chr11	26586956	26586956	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgtcattgaccaaagaccaAgtgaagttttctgaagacag	10	7	2	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.chr11:26586956A>G	ENST00000455601.2	-	2	568	c.450T>C	c.(448-450)acT>acC	p.T150T	MUC15_ENST00000436318.2_Silent_p.T177T|MUC15_ENST00000529533.1_Silent_p.T177T|MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron	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			Somatic				MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000537978.1_Intron	p.T177T			WXS	Illumina GAIIx	Phase_I	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	24	87	---	---	---	---	G	26586956	A	G	26586956	2	3	211	1	0	0	0	0	0	0	0	1	9972	59	3	2		2	MUC15	11	26586956	Silent	SNP	A	TCGA-J4-A83M-01A-11D-A34U-08	8045875	26586956	108419560	15	8853										
PAMR1	25891	broad.mit.edu	37	chr11	35515649	35515649	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccattccacactcacctgggTggatcaggcaggagtcacac	10	14	3	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.chr11:35515649T>A	ENST00000378880.2	-	2	690	c.245A>T	c.(244-246)cAc>cTc	p.H82L	PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L	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		Somatic				PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L	p.H82L	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	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	8	69	---	---	---	---	A	35515649	T	A	35515649	3	1	211	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	16	8854										
AHNAK	79026	broad.mit.edu	37	chr11	62296740	62296740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggcatactgaacttgggcaTtttcatcttgggcattttca	9	8	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.chr11:62296740T>A	ENST00000378024.4	-	5	5423	c.5149A>T	c.(5149-5151)Atg>Ttg	p.M1717L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_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		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.M1717L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	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	8	299	---	---	---	---	A	62296740	T	A	62296740	3	1	211	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	17	8855										
C11orf30	56946	broad.mit.edu	37	chr11	76257110	76257110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttgccactagcatgctcacTggtgaagcaggatcattacc	9	12	2	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.chr11:76257110T>C	ENST00000529032.1	+	19	3543	c.3543T>C	c.(3541-3543)acT>acC	p.T1181T	C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000533248.1_Silent_p.T1090T|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			Somatic				C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525919.1_Silent_p.T1182T	p.T1181T			WXS	Illumina GAIIx	Phase_I	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	29	30	---	---	---	---	C	76257110	T	C	76257110	2	2	211	1	0	0	0	0	0	0	0	1	1636	1567	55	2		2	C11orf30	11	76257110	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	13960370	76257110	58749406	18	8856										
DSCAML1	57453	broad.mit.edu	37	chr11	117301609	117301609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtcatctggtcagaggaacTgtcagagatgaagcactcgg	14	8	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.chr11:117301609T>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		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	p.S1899G	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	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	5	155	---	---	---	---	C	117301609	T	C	117301609	3	2	211	1	0	0	0	0	1	0	0	0	4769	1580	55	2	654	2	DSCAML1	11	117301609	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08	41044499	117301609	17704907	19	8857										
OR10G8	219869	broad.mit.edu	37	chr11	123900402	123900402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccccagcgctggacgcccccCtctttggagtcttcctggtg	11	17	2	0	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		Somatic					p.L25F	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	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	38	108	---	---	---	---	T	123900402	C	T	123900402	3	4	211	1	0	0	0	0	1	0	0	0	10903	681	24	2	75	2	OR10G8	11	123900402	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	6598793	123900402	11106114	20	8858										
CS	1431	broad.mit.edu	37	chr12	56679800	56679800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcaggtcagccaatatgtctTtcaaattctaaaaagaaaag	6	7	5	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.chr12:56679800T>C	ENST00000351328.3	-	3	291	c.101A>G	c.(100-102)aAa>aGa	p.K34R	CS_ENST00000542324.2_Missense_Mutation_p.K21R|CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	81	---	---	---	---	C	56679800	T	C	56679800	3	2	211	1	0	0	0	0	1	0	0	0	3924	1841	64	2	1335	2	CS	12	56679800	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		56679800	77172095	21	8859										
PLXNC1	10154	broad.mit.edu	37	chr12	94641683	94641683	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttctttttgtccaggtctCtgaatattgtgtggcgactt	9	7	2	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.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		Somatic					p.S798Y	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	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	6	106	---	---	---	---	A	94641683	C	A	94641683	3	1	211	1	0	0	0	0	1	0	0	0	12126	913	32	3	2443	3	PLXNC1	12	94641683	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08	37961883	94641683	39210212	22	8860										
F7	2155	broad.mit.edu	37	chr13	113772752	113772752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacgacctcagcgagcacgaCggggatgagcagagccggcg	16	13	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.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			Somatic				F7_ENST00000346342.3_Silent_p.D255D|F7_ENST00000541084.1_Silent_p.D208D	p.D277D	NM_000131.4	NP_000122.1	WXS	Illumina GAIIx	Phase_I	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	13	38	---	---	---	---	T	113772752	C	T	113772752	2	4	211	1	0	0	0	0	0	0	0	1	5349	535	19	2		2	F7	13	113772752	Silent	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		113772752	1397126	23	8861										
AKT1	207	broad.mit.edu	37	chr14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcacggccgtagtcattgtCctccagcacctgcacgggtg	12	14	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.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y			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		Somatic				AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y	p.D323Y			WXS	Illumina GAIIx	Phase_I	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	5	48	---	---	---	---	A	105239420	C	A	105239420	3	1	211	1	0	0	0	0	1	0	0	0	478	855	30	3	491	3	AKT1	14	105239420	Missense_Mutation	SNP	C	TCGA-J4-A83M-01A-11D-A34U-08		105239420	2110120	24	8862										
PALB2	79728	broad.mit.edu	37	chr16	23632759	23632759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacctcagcaaaagttagtaTagtctcctcagggggcatca	10	10	4	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.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		Somatic				CTD-2196E14.3_ENST00000561764.1_RNA	p.I1013V	NM_024675.3	NP_078951.2	WXS	Illumina GAIIx	Phase_I	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	5	56	---	---	---	---	C	23632759	T	C	23632759	3	2	211	1	0	0	0	0	1	0	0	0	11406	1406	49	2	539	2	PALB2	16	23632759	Missense_Mutation	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		23632759	66721994	25	8863										
ACACA	31	broad.mit.edu	37	chr17	35536315	35536315	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggagatggaagaaatgcttgAgtggacatagactcccagag	14	6	0	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.chr17:35536315A>T	ENST00000394406.2	-	41	5044	c.4854T>A	c.(4852-4854)acT>acA	p.T1618T	ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000353139.5_Silent_p.T1655T|ACACA_ENST00000335166.5_Silent_p.T1540T	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			Somatic				ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000394406.2_Silent_p.T1618T	p.T1655T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	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	9	34	---	---	---	---	T	35536315	A	T	35536315	2	4	211	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		35536315	45658895	26	8864										
LAMA3	3909	broad.mit.edu	37	chr18	21330980	21330980	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcaacaaacatccgcttgcgTtttcttagaaccaatacgct	6	12	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.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			Somatic				LAMA3_ENST00000399516.3_Silent_p.R261R	p.R261R	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	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	4	98	---	---	---	---	C	21330980	T	C	21330980	2	2	211	1	0	0	0	0	0	0	0	1	8607	1712	60	2		2	LAMA3	18	21330980	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		21330980	56746268	27	8865										
DUS3L	56931	broad.mit.edu	37	chr19	5790154	5790154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgggccctcttctgagtctgTagctgctccccgggctctgc	12	16	4	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.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			Somatic				DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L97L	NM_020175.2	NP_064560.2	WXS	Illumina GAIIx	Phase_I	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	15	37	---	---	---	---	C	5790154	T	C	5790154	2	2	211	1	0	0	0	0	0	0	0	1	4807	1625	57	2		2	DUS3L	19	5790154	Silent	SNP	T	TCGA-J4-A83M-01A-11D-A34U-08		5790154	53338829	28	8866										
MED15	51586	broad.mit.edu	37	chr22	20937036	20937036	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcccaactccaacgtcaggTaggcctggcctggggtgccc	13	15	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.chr22:20937036T>A	ENST00000263205.7	+	10	1478		c.e10+2		MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_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			Somatic				MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000292733.7_Splice_Site		NM_001003891.1	NP_001003891.1	WXS	Illumina GAIIx	Phase_I	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	4	38	---	---	---	---	A	20937036	T	A	20937036	5	1	211	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	29	8867										
LRRC7	57554	broad.mit.edu	37	chr1	70484494	70484494	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	tttccccagcagcctcgtggTgatgaaggtaaattgtcagt	11	9	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.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			Somatic				RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.G433G	p.G438G			WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	C	70484494	T	C	70484494	2	2	212	1	0	0	0	0	0	0	0	1	9020	1683	59	2		2	LRRC7	1	70484494	Silent	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		70484494	178766127	1	8868										
XDH	7498	broad.mit.edu	37	chr2	31604515	31604515	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	tcacctctggacacaagtgtCagcttggccccactggccat	9	15	3	0			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			Somatic					p.L372L	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	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	4	18	---	---	---	---	T	31604515	C	T	31604515	2	4	212	1	0	0	0	0	0	0	0	1	17423	813	29	2		2	XDH	2	31604515	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		31604515	211594858	2	8869										
KIAA1486	57624	broad.mit.edu	37	chr2	226378223	226378223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	gcttttctgtgagatcacagTccctgcactcggttgggggc	13	11	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.chr2:226378223T>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		Somatic				NYAP2_ENST00000409269.2_Intron	p.S120P	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	C	226378223	T	C	226378223	3	2	212	1	0	0	0	0	1	0	0	0	8237	1667	58	2	364	2	KIAA1486	2	226378223	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08	194773708	226378223	16821150	3	8870										
KIF1A	547	broad.mit.edu	37	chr2	241658545	241658545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	ataggggcgccgcaccaccaCgaagcgcctggcccagcctg	13	17	0	0			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		Somatic				KIF1A_ENST00000320389.7_Missense_Mutation_p.V1597M	p.V1698M	NM_001244008.1	NP_001230937.1	WXS	Illumina GAIIx	Phase_I	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	39	109	---	---	---	---	T	241658545	C	T	241658545	3	4	212	1	0	0	0	0	1	0	0	0	8283	536	19	2	295	2	KIF1A	2	241658545	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	15280322	241658545	1540828	4	8871										
ATP2B2	491	broad.mit.edu	37	chr3	10443891	10443891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	cgatgcggctctgcaggcccCggaactgtttctctttgctc	11	14	2	0			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_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000360273.2_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		Somatic				ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q	p.R180Q			WXS	Illumina GAIIx	Phase_I	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	5	139	---	---	---	---	T	10443891	C	T	10443891	3	4	212	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	5	8872										
RBM46	166863	broad.mit.edu	37	chr4	155719382	155719382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	gtggttttgcatttgtggaaTatgaatctcacagagctgct	11	6	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.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		Somatic				RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D|RBM46_ENST00000281722.3_Missense_Mutation_p.Y191D	p.Y191D	NM_001277173.1	NP_001264102.1	WXS	Illumina GAIIx	Phase_I	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	15	34	---	---	---	---	G	155719382	T	G	155719382	3	3	212	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	6	8873										
CTNNA1	1495	broad.mit.edu	37	chr5	138163328	138163328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	ctcgtcctgcacgcgtgatgAccgtcgtgagcgaattgtgg	14	11	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.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		Somatic				CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G	p.D328G	NM_001903.2	NP_001894.2	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	G	138163328	A	G	138163328	3	3	212	1	0	0	0	0	1	0	0	0	4012	275	10	2	1005	2	CTNNA1	5	138163328	Missense_Mutation	SNP	A	TCGA-J4-A83N-01A-11D-A34U-08		138163328	42751932	7	8874										
C6orf170	221322	broad.mit.edu	37	chr6	121604993	121604993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	cagctgatgtcatctttggaCaacttggtgagtaatagata	10	6	2	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.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		Somatic				TBC1D32_ENST00000398212.2_Missense_Mutation_p.C479Y	p.C479Y			WXS	Illumina GAIIx	Phase_I					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	5	26	---	---	---	---	T	121604993	C	T	121604993	3	4	212	1	0	0	0	0	1	0	0	0	2344	478	17	2	2417	2	C6orf170	6	121604993	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		121604993	49510074	8	8875										
TMEM181	57583	broad.mit.edu	37	chr6	159046201	159046201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	tacctcttgttcttgatagtGcgggcgtgttccgagctacg	12	10	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.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			Somatic					p.V477V	NM_020823.1	NP_065874.1	WXS	Illumina GAIIx	Phase_I	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	5	99	---	---	---	---	A	159046201	G	A	159046201	2	1	212	1	0	0	0	0	0	0	0	1	16097	1306	46	2		2	TMEM181	6	159046201	Silent	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	37441208	159046201	12068866	9	8876										
CSPP1	79848	broad.mit.edu	37	chr8	68087551	68087551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	attcagaaacacgagttgatCtgaaatttatgtacctggat	8	6	2	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.chr8:68087551C>T	ENST00000262210.5	+	24	3005	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	CSPP1_ENST00000412460.1_Silent_p.L647L|ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_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			Somatic				ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.L647L	p.L992L	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	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	12	54	---	---	---	---	T	68087551	C	T	68087551	2	4	212	1	0	0	0	0	0	0	0	1	3962	912	32	2		2	CSPP1	8	68087551	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		68087551	78276471	10	8877										
SEC31B	25956	broad.mit.edu	37	chr10	102257878	102257878	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	ctgggccaggataatggcatCagcaaagcgctcctccttca	10	13	2	0	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		Somatic				SEC31B_ENST00000494350.1_5'UTR	p.D591Y	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	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	13	33	---	---	---	---	A	102257878	C	A	102257878	3	1	212	1	0	0	0	0	1	0	0	0	13999	826	29	3	1816	3	SEC31B	10	102257878	Missense_Mutation	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08		102257878	33276869	11	8878										
MGMT	4255	broad.mit.edu	37	chr10	131506294	131506294	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	gtgccggctcttcaccatccCgttttccagcaaggtcggta	10	14	2	0	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			Somatic				MGMT_ENST00000462672.1_3'UTR	p.P118P	NM_002412.3	NP_002403.2	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	A	131506294	C	A	131506294	2	1	212	1	0	0	0	0	0	0	0	1	9557	639	23	1		1	MGMT	10	131506294	Silent	SNP	C	TCGA-J4-A83N-01A-11D-A34U-08	29248416	131506294	4028453	12	8879										
CCDC73	493860	broad.mit.edu	37	chr11	32697164	32697164	+	Frame_Shift_Del	DEL	T	T	-													0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	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)agafs		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		Somatic				CCDC73_ENST00000534415.1_5'UTR	p.R198fs	NM_001008391.2	NP_001008392.2	WXS	Illumina GAIIx	Phase_I	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	212	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	13	8880										
OR5M10	390167	broad.mit.edu	37	chr11	56344294	56344294	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	ttttcccctaatcatttgttGtatggcaaggattacatctc	6	9	2	0			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		Somatic					p.Q302E	NM_001004741.1	NP_001004741.1	WXS	Illumina GAIIx	Phase_I	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	5	169	---	---	---	---	C	56344294	G	C	56344294	3	2	212	1	0	0	0	0	1	0	0	0	11173	1386	48	4	47	4	OR5M10	11	56344294	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	23647130	56344294	78662222	14	8881										
TBK1	29110	broad.mit.edu	37	chr12	64890177	64890177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	taatgaagaacaaatccacaAatttgataagtaagtatcca	5	6	0	3	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		Somatic					p.K584R	NM_013254.3	NP_037386.1	WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	G	64890177	A	G	64890177	3	3	212	1	0	0	0	0	1	0	0	0	15634	14	1	2	1809	2	TBK1	12	64890177	Missense_Mutation	SNP	A	TCGA-J4-A83N-01A-11D-A34U-08		64890177	68961718	15	8882										
MAP3K3	4215	broad.mit.edu	37	chr17	61744336	61744336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	actctggggtgtccagacagGtgcggatcaaggcttcccag	14	11	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.chr17:61744336G>T	ENST00000361733.3	+	6	738	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361357.3_Missense_Mutation_p.V171L	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		Somatic				MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.V140L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L	p.V171L	NM_203351.1	NP_976226.1	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	T	61744336	G	T	61744336	3	4	212	1	0	0	0	0	1	0	0	0	9251	1261	44	3	537	3	MAP3K3	17	61744336	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08		61744336	19450874	16	8883										
SLC35E1	79939	broad.mit.edu	37	chr19	16664533	16664533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	tgtacgagtttgggtagctcTgccggctgtattggaagtgg	16	6	1	0			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-3222D19.2_ENST00000409035.1_Intron|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	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		Somatic				CTD-3222D19.2_ENST00000409035.1_Intron	p.Q397R	NM_024881.4	NP_079157.3	WXS	Illumina GAIIx	Phase_I	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	5	103	---	---	---	---	C	16664533	T	C	16664533	3	2	212	1	0	0	0	0	1	0	0	0	14584	1580	55	2	46	2	SLC35E1	19	16664533	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		16664533	42464450	17	8884										
GPCPD1	56261	broad.mit.edu	37	chr20	5556578	5556578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	agagacaagctgtacccacaTgtccaggaagggcatcaccc	10	13	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.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		Somatic				GPCPD1_ENST00000481038.1_5'UTR	p.H251R	NM_019593.3	NP_062539.1	WXS	Illumina GAIIx	Phase_I	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	12	28	---	---	---	---	C	5556578	T	C	5556578	3	2	212	1	0	0	0	0	1	0	0	0	6603	1464	51	2	1314	2	GPCPD1	20	5556578	Missense_Mutation	SNP	T	TCGA-J4-A83N-01A-11D-A34U-08		5556578	57468942	18	8885										
HCK	3055	broad.mit.edu	37	chr20	30681780	30681780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	1.95408163265306	0	2.2332361516035	0.4	1	0	agattgctgactttggcctgGcccgggtcattgaggacaac	13	10	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_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000534862.1_Missense_Mutation_p.A383T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T	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		Somatic				HCK_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000520553.1_Missense_Mutation_p.A382T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T	p.A383T	NM_001172132.1	NP_001165603.1	WXS	Illumina GAIIx	Phase_I	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	25	36	---	---	---	---	A	30681780	G	A	30681780	3	1	212	1	0	0	0	0	1	0	0	0	6994	1203	42	2	1255	2	HCK	20	30681780	Missense_Mutation	SNP	G	TCGA-J4-A83N-01A-11D-A34U-08	25125202	30681780	32343740	19	8886										
LRRIQ3	127255	broad.mit.edu	37	chr1	74649266	74649266	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	ctttaaatgaaggccattgaActtcacaaaaacaaaatctt	4	8	2	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.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		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V	p.F35V	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	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	5	12	---	---	---	---	C	74649266	A	C	74649266	3	2	213	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		74649266	174601355	1	8887										
OBSCN	84033	broad.mit.edu	37	chr1	228433234	228433234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gacagaggtgacgtggtacaAggacgggaagaagctgagct	17	6	0	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.chr1:228433234A>G	ENST00000422127.1	+	12	3646	c.3602A>G	c.(3601-3603)aAg>aGg	p.K1201R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1293R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R	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		Somatic				OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R	p.K1293R	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	36	99	---	---	---	---	G	228433234	A	G	228433234	3	3	213	1	0	0	0	0	1	0	0	0	10812	72	3	2	3644	2	OBSCN	1	228433234	Missense_Mutation	SNP	A	TCGA-J9-A52B-01A-11D-A26M-08	153783968	228433234	20817387	2	8888										
DRD3	1814	broad.mit.edu	37	chr3	113850057	113850057	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gcttcaaagatgtcgataatCtgccattgctgagttttcga	9	8	2	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.chr3:113850057C>G	ENST00000460779.1	-	7	1203	c.914G>C	c.(913-915)aGa>aCa	p.R305T	DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Missense_Mutation_p.R305T	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		Somatic				DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Missense_Mutation_p.R305T	p.R305T	NM_000796.3	NP_000787.2	WXS	Illumina GAIIx	Phase_I	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	18	169	---	---	---	---	G	113850057	C	G	113850057	3	3	213	1	0	0	0	0	1	0	0	0	4758	913	32	4	296	4	DRD3	3	113850057	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113850057	84172373	3	8889										
ANKRD37	353322	broad.mit.edu	37	chr4	186318457	186318458	+	Splice_Site	INS	-	-	T													0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	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		ANKRD37_ENST00000507479.1_Splice_Site|LRP2BP_ENST00000505916.1_5'Flank	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			Somatic				ANKRD37_ENST00000507479.1_Splice_Site		NM_181726.2	NP_859077.1	WXS	Illumina GAIIx	Phase_I	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	213	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		186318457	4835819	4	8890										
PPAP2A	8611	broad.mit.edu	37	chr5	54771251	54771251	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gttggaagggggtatgccttGaagtaagaattgcaaaaggc	15	4	0	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.chr5:54771251G>T	ENST00000307259.8	-	2	506	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PPAP2A_ENST00000264775.5_Intron|PPAP2A_ENST00000515132.1_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*		Somatic				PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	p.S29*	NM_003711.2	NP_003702.2	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	54771251	G	T	54771251	4	4	213	1	0	0	0	0	0	1	0	0	12290	1294	45	3	788	3	PPAP2A	5	54771251	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		54771251	126144009	5	8891										
NOTCH4	4855	broad.mit.edu	37	chr6	32180925	32180925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	tgctcacctgtctgcacagcTggggcggagctttccctcac	11	15	3	0	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		Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.S809G	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	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	4	64	---	---	---	---	C	32180925	T	C	32180925	3	2	213	1	0	0	0	0	1	0	0	0	10551	1580	55	2	3650	2	NOTCH4	6	32180925	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08		32180925	138934142	6	8892										
SYNE1	23345	broad.mit.edu	37	chr6	152651002	152651002	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gtgactcagcgcattcatgaTtctcaagctggactggacct	10	11	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.chr6:152651002T>G	ENST00000367255.5	-	78	15419	c.14818A>C	c.(14818-14820)Atc>Ctc	p.I4940L	SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L	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)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L	p.I4940L	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	68	137	---	---	---	---	G	152651002	T	G	152651002	3	3	213	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	120470077	152651002	18464065	7	8893										
AGPAT4	56895	broad.mit.edu	37	chr6	161560578	161560578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	aacagccagttcacgagggtCcagggccgccgggggggcac	17	13	1	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.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		Somatic				AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	p.W306C	NM_020133.2	NP_064518.1	WXS	Illumina GAIIx	Phase_I	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	24	92	---	---	---	---	G	161560578	C	G	161560578	3	3	213	1	0	0	0	0	1	0	0	0	389	856	30	4	226	4	AGPAT4	6	161560578	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	8909576	161560578	9554489	8	8894										
PEX2	5828	broad.mit.edu	37	chr8	77895775	77895775	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	cagcttggctttcaacttctGgacattgataagtggtaaga	10	7	2	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.chr8:77895775G>A	ENST00000419564.2	-	4	1104	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	13	96	---	---	---	---	A	77895775	G	A	77895775	4	1	213	1	0	0	0	0	0	1	0	0	11745	1357	47	2	281	2	PEX2	8	77895775	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		77895775	68468247	9	8895										
SVEP1	79987	broad.mit.edu	37	chr9	113312165	113312165	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gcgagctaaagcctcaaattCttcaaaactgtgtagcaggt	9	9	3	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.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*		Somatic				SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*	p.E251*	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	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	6	22	---	---	---	---	A	113312165	C	A	113312165	4	1	213	1	0	0	0	0	0	1	0	0	15417	922	32	3	10152	3	SVEP1	9	113312165	Nonsense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113312165	27901266	10	8896										
ANKRD30A	91074	broad.mit.edu	37	chr10	37422959	37422959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gagtaactgcagaacattatGctgttacttgtggatttcat	9	6	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.chr10:37422959G>T	ENST00000602533.1	+	5	664	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A189S|RNU6-811P_ENST00000384069.1_RNA			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		Somatic				ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S	p.A189S			WXS	Illumina GAIIx	Phase_I	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	53	104	---	---	---	---	T	37422959	G	T	37422959	3	4	213	1	0	0	0	0	1	0	0	0	658	1319	46	3	583	3	ANKRD30A	10	37422959	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		37422959	98111788	11	8897										
FAT3	120114	broad.mit.edu	37	chr11	92577145	92577145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	aagtttctcacacttacatcCgcgtgcgagtcattgaggaa	9	10	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.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)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C	p.R3538C			WXS	Illumina GAIIx	Phase_I	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	11	284	---	---	---	---	T	92577145	C	T	92577145	3	4	213	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	12	8898										
MTNR1B	4544	broad.mit.edu	37	chr11	92702949	92702949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	cgggcgggtgggcagtgcgcCcgggctggtcgggggctggc	24	11	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		Somatic					p.P20S	NM_005959.3	NP_005950.1	WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---	T	92702949	C	T	92702949	3	4	213	1	0	0	0	0	1	0	0	0	9952	623	22	2	60	2	MTNR1B	11	92702949	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	125804	92702949	42303567	13	8899										
LYSMD4	145748	broad.mit.edu	37	chr15	100269696	100269696	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	cactgcacgctcaatatcctGgtcaatccccttaaagaagc	6	14	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.chr15:100269696G>A	ENST00000409796.1	-	3	585	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	LYSMD4_ENST00000545021.1_Nonsense_Mutation_p.Q49*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*	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*		Somatic				LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron	p.Q49*			WXS	Illumina GAIIx	Phase_I	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	35	100	---	---	---	---	A	100269696	G	A	100269696	4	1	213	1	0	0	0	0	0	1	0	0	9127	1357	47	2	371	2	LYSMD4	15	100269696	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		100269696	2261696	14	8900										
KIAA1609	57707	broad.mit.edu	37	chr16	84516283	84516283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gtgtgtacacagccatgctgGggcagatggagaacaggaag	16	7	0	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.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		Somatic				TLDC1_ENST00000535580.1_Missense_Mutation_p.P304L	p.P331L	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					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	3	43	---	---	---	---	A	84516283	G	A	84516283	3	1	213	1	0	0	0	0	1	0	0	0	8247	1232	43	2	390	2	KIAA1609	16	84516283	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		84516283	5838470	15	8901										
CHD3	1107	broad.mit.edu	37	chr17	7811746	7811746	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	acacactgtggcagaatgagGaacgggcagctatttcctcg	12	10	0	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*		Somatic				CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*	p.E1786*	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	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	4	8	---	---	---	---	T	7811746	G	T	7811746	4	4	213	1	0	0	0	0	0	1	0	0	3326	1175	41	3	5598	3	CHD3	17	7811746	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		7811746	73383464	16	8902										
MYH10	4628	broad.mit.edu	37	chr17	8480573	8480573	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	caggaatattatggtcctttCttcctttatgtgaagaagca	8	7	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.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_ENST00000379980.4_Missense_Mutation_p.R205K|MYH10_ENST00000396239.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	30	23	---	---	---	---	T	8480573	C	T	8480573	3	4	213	1	0	0	0	0	1	0	0	0	10030	913	32	2	5464	2	MYH10	17	8480573	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	668827	8480573	72714637	17	8903										
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843654	16843654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	actcaccctgggaagacttgGccggactttgacggggcctt	13	12	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.chr17:16843654G>A	ENST00000261652.2	-	4	629	c.617C>T	c.(616-618)gCc>gTc	p.A206V	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.A160V	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		Somatic				TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V	p.A160V			WXS	Illumina GAIIx	Phase_I	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	57	106	---	---	---	---	A	16843654	G	A	16843654	3	1	213	1	0	0	0	0	1	0	0	0	16284	1203	42	2	272	2	TNFRSF13B	17	16843654	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8363081	16843654	64351556	18	8904										
FAM83G	644815	broad.mit.edu	37	chr17	18875037	18875037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	cctagtccctgaggcagggaCcctgtgatgatgaaactgct	12	11	0	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.chr17:18875037C>A	ENST00000388995.6	-	6	2330	c.2107G>T	c.(2107-2109)Gtc>Ttc	p.V703F	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F			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		Somatic				SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F	p.V703F			WXS	Illumina GAIIx	Phase_I	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	27	53	---	---	---	---	A	18875037	C	A	18875037	3	1	213	1	0	0	0	0	1	0	0	0	5639	507	18	3	368	3	FAM83G	17	18875037	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	2031383	18875037	62320173	19	8905										
PLIN3	10226	broad.mit.edu	37	chr19	4852140	4852141	+	Frame_Shift_Del	DEL	TT	TT	-													0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	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_ENST00000585479.1_Frame_Shift_Del_p.Q174fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs	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)caafs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	213	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	20	8906										
MAST1	22983	broad.mit.edu	37	chr19	12954360	12954360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	cagggcggacggacgccggtGgtctctggcctcgctccctt	15	15	1	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.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		Somatic				MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	p.W89S	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	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	46	67	---	---	---	---	C	12954360	G	C	12954360	3	2	213	1	0	0	0	0	1	0	0	0	9324	1357	47	4	280	4	MAST1	19	12954360	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8102220	12954360	46174623	21	8907										
ATF4	468	broad.mit.edu	37	chr22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-													0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	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)cccfs		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		Somatic				ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	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	213	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	22	8908										
TCF20	6942	broad.mit.edu	37	chr22	42608481	42608481	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	agtggtctccagatttcttgTtgttgaaactagcttgagat	10	6	2	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.chr22:42608481T>A	ENST00000359486.3	-	1	2967	c.2831A>T	c.(2830-2832)aAc>aTc	p.N944I	TCF20_ENST00000335626.4_Missense_Mutation_p.N944I|TCF20_ENST00000404876.1_5'Flank	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		Somatic				TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	p.N944I	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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	24	83	---	---	---	---	A	42608481	T	A	42608481	3	1	213	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	23	8909										
DCAF12L1	139170	broad.mit.edu	37	chrX	125685925	125685925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	2	1	1.39291217257319	1.91525423728814	1.09443099273608	1	1	0	gtcatcgaacttgtccgggtCcatccgccacagcgccacag	10	16	1	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.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		Somatic					p.D223H	NM_178470.4	NP_848565.2	WXS	Illumina GAIIx	Phase_I	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	6	40	---	---	---	---	G	125685925	C	G	125685925	3	3	213	1	0	0	0	0	1	0	0	0	4264	855	30	4	728	4	DCAF12L1	23	125685925	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		125685925	29584635	24	8910										
PRAMEF11	440560	broad.mit.edu	37	chr1	12887308	12887308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	tggcccaggtatggggtaaaCtgtgtcaggatgggcagtat	16	6	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.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			Somatic					p.Q183Q	NM_001146344.1	NP_001139816.1	WXS	Illumina GAIIx	Phase_I	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	9	324	---	---	---	---	T	12887308	C	T	12887308	2	4	214	1	0	0	0	0	0	0	0	1	12427	564	20	2		2	PRAMEF11	1	12887308	Silent	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		12887308	236363313	1	8911										
NEK4	6787	broad.mit.edu	37	chr3	52786023	52786023	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	ttcttttccccagtgacaatGtcagaggaccacatgggaat	9	10	2	2	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_ENST00000383721.4_Missense_Mutation_p.D431E|NEK4_ENST00000535191.1_Missense_Mutation_p.D342E	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		Somatic				NEK4_ENST00000535191.1_Missense_Mutation_p.D342E|NEK4_ENST00000383721.4_Missense_Mutation_p.D431E	p.D431E	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	WXS	Illumina GAIIx	Phase_I	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	63	149	---	---	---	---	C	52786023	G	C	52786023	3	2	214	1	0	0	0	0	1	0	0	0	10326	1368	48	4	1272	4	NEK4	3	52786023	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		52786023	145236407	2	8912										
DZIP1L	199221	broad.mit.edu	37	chr3	137802957	137802957	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	aaggaagggcagacctaccaTctcctcctgggaggcaatga	12	11	1	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.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		Somatic				DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.M401L	p.M401L	NM_173543.2	NP_775814.2	WXS	Illumina GAIIx	Phase_I	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	20	65	---	---	---	---	A	137802957	T	A	137802957	3	1	214	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	85016934	137802957	60219473	3	8913										
LIMCH1	22998	broad.mit.edu	37	chr4	41682030	41682030	+	Frame_Shift_Del	DEL	A	A	-													0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	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_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs	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)tacfs		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		Somatic				LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.Y792fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.Y637fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.Y715fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.Y645fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.Y625fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.Y804fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.Y632fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.Y791fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.Y1176fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.Y632fs	p.Y792fs	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	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	214	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	4	8914										
SMARCAD1	56916	broad.mit.edu	37	chr4	95204449	95204449	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	agatgccatagagtaggccaGactaagtaagtgtttttagt	11	5	0	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.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		Somatic				SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q538H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q970H	p.Q968H			WXS	Illumina GAIIx	Phase_I	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	3	36	---	---	---	---	T	95204449	G	T	95204449	3	4	214	1	0	0	0	0	1	0	0	0	14772	933	33	3	2992	3	SMARCAD1	4	95204449	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08	53522419	95204449	95949827	5	8915										
CREB3L2	64764	broad.mit.edu	37	chr7	137569752	137569752	+	Frame_Shift_Del	DEL	G	G	-													0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	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)acafs		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		Somatic				CREB3L2_ENST00000456390.1_Frame_Shift_Del_p.T420fs	p.T420fs	NM_194071.3	NP_919047.2	WXS	Illumina GAIIx	Phase_I	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	214	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	6	8916										
SUSD1	64420	broad.mit.edu	37	chr9	114820961	114820961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	ggggaagcactaacacctgaTatgaactggaagaaaaaagg	12	6	0	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.chr9:114820961T>C	ENST00000374270.3	-	14	2028	c.1856A>G	c.(1855-1857)tAt>tGt	p.Y619C	SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C|SUSD1_ENST00000374264.2_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		Somatic				SUSD1_ENST00000374264.2_Missense_Mutation_p.Y619C|SUSD1_ENST00000374263.3_Missense_Mutation_p.Y619C	p.Y619C	NM_022486.3	NP_071931.2	WXS	Illumina GAIIx	Phase_I	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	8	50	---	---	---	---	C	114820961	T	C	114820961	3	2	214	1	0	0	0	0	1	0	0	0	15404	1406	49	2	403	2	SUSD1	9	114820961	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08		114820961	26392470	7	8917										
ZNF408	79797	broad.mit.edu	37	chr11	46727386	46727386	+	Frame_Shift_Del	DEL	G	G	-													0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	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)gagfs		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		Somatic					p.E712fs	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	WXS	Illumina GAIIx	Phase_I	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	214	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	8	8918										
ETV6	2120	broad.mit.edu	37	chr12	12038866	12038866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	ctttgaacaaacagaacagaAcaaacatgacctatgagaaa	6	8	0	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.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		Somatic					p.T387A	NM_001987.4	NP_001978.1	WXS	Illumina GAIIx	Phase_I	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	7	74	---	---	---	---	G	12038866	A	G	12038866	3	3	214	1	0	0	0	0	1	0	0	0	5283	43	2	2	1185	2	ETV6	12	12038866	Missense_Mutation	SNP	A	TCGA-J9-A8CK-01A-11D-A34U-08		12038866	121813029	9	8919										
TMEM5	10329	broad.mit.edu	37	chr12	64174844	64174844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	atggaatccttgggaaggagAtgaaaaaaatgagcaacaac	11	5	0	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.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		Somatic				RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR	p.D72G	NM_014254.1	NP_055069.1	WXS	Illumina GAIIx	Phase_I	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	19	51	---	---	---	---	G	64174844	A	G	64174844	3	3	214	1	0	0	0	0	1	0	0	0	16171	333	12	2	221	2	TMEM5	12	64174844	Missense_Mutation	SNP	A	TCGA-J9-A8CK-01A-11D-A34U-08	52135978	64174844	69677051	10	8920										
VSIG10	54621	broad.mit.edu	37	chr12	118533490	118533490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	cagctggccggaggctagagTtggacgagagaaggaagaca	17	7	0	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.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		Somatic				VSIG10_ENST00000536905.1_5'UTR	p.N70S	NM_019086.5	NP_061959.2	WXS	Illumina GAIIx	Phase_I	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	10	24	---	---	---	---	C	118533490	T	C	118533490	3	2	214	1	0	0	0	0	1	0	0	0	17220	1725	60	2	1445	2	VSIG10	12	118533490	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08	54358646	118533490	15318405	11	8921										
PACS2	23241	broad.mit.edu	37	chr14	105818770	105818770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	gctgccccccagtggacaagTggagacagacctggccctga	13	14	0	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.chr14:105818770T>C	ENST00000325438.8	+	3	767	c.263T>C	c.(262-264)gTg>gCg	p.V88A	PACS2_ENST00000447393.1_Missense_Mutation_p.V88A|PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A			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		Somatic	OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000325438.8_Missense_Mutation_p.V88A|PACS2_ENST00000458164.2_Missense_Mutation_p.V88A|PACS2_ENST00000430725.2_Missense_Mutation_p.V21A|PACS2_ENST00000547217.1_Intron	p.V88A	NM_015197.3	NP_056012.2	WXS	Illumina GAIIx	Phase_I	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	23	93	---	---	---	---	C	105818770	T	C	105818770	3	2	214	1	0	0	0	0	1	0	0	0	11373	1696	59	2	273	2	PACS2	14	105818770	Missense_Mutation	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08		105818770	1530770	12	8922										
ADAM10	102	broad.mit.edu	37	chr15	58925526	58925526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	cttcttaccatctgaatagaGtttacttttttcacatattc	3	9	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.chr15:58925526G>A	ENST00000260408.3	-	9	1488	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F	ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F	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		Somatic				ADAM10_ENST00000402627.1_Missense_Mutation_p.L48F|ADAM10_ENST00000396140.2_Missense_Mutation_p.L48F|ADAM10_ENST00000561288.1_Intron	p.L349F	NM_001110.2	NP_001101.1	WXS	Illumina GAIIx	Phase_I	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	17	46	---	---	---	---	A	58925526	G	A	58925526	3	1	214	1	0	0	0	0	1	0	0	0	234	1029	36	2	1233	2	ADAM10	15	58925526	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		58925526	43605866	13	8923										
TP53	7157	broad.mit.edu	37	chr17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	cctctgtgcgccggtctctcCcaggacaggcacaaacacgc	10	17	2	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_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000420246.2_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)	Somatic				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E	p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	7	7	---	---	---	---	T	7577102	C	T	7577102	3	4	214	1	0	0	0	0	1	0	0	0	16378	623	22	2	450	2	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-J9-A8CK-01A-11D-A34U-08		7577102	73618108	14	8924										
MUC16	94025	broad.mit.edu	37	chr19	9049442	9049442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	ccagatcttctgcaccaggtGagacagtcataattggaata	9	9	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.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		Somatic					p.S10730L	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	58	157	---	---	---	---	A	9049442	G	A	9049442	3	1	214	1	0	0	0	0	1	0	0	0	9973	1294	45	2	11654	2	MUC16	19	9049442	Missense_Mutation	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		9049442	50079541	15	8925										
CLCN5	1184	broad.mit.edu	37	chrX	49689925	49689925	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	caagatggccatgtggcaggGtaagaaattagcacttattc	11	7	0	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.chrX:49689925G>T	ENST00000376088.3	+	3	657		c.e3+1		CLCN5_ENST00000376091.3_Splice_Site|CLCN5_ENST00000482218.2_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			Somatic				CLCN5_ENST00000376091.3_Splice_Site|CLCN5_ENST00000482218.2_Splice_Site		NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	WXS	Illumina GAIIx	Phase_I	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	19	25	---	---	---	---	T	49689925	G	T	49689925	5	4	214	1	0	0	0	0	0	0	1	0	3466	1275	44	3	19	3	CLCN5	23	49689925	Splice_Site	SNP	G	TCGA-J9-A8CK-01A-11D-A34U-08		49689925	105580635	16	8926										
SPANXN1	494118	broad.mit.edu	37	chrX	144337277	144337277	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.21818181818182	0	1.52272727272727	1	1	0	tattcaacagtattagcgttTtgctacaggaaagctaagaa	8	6	1	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.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			Somatic					p.F54F	NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	C	144337277	T	C	144337277	2	2	214	1	0	0	0	0	0	0	0	1	14990	1838	64	2		2	SPANXN1	23	144337277	Silent	SNP	T	TCGA-J9-A8CK-01A-11D-A34U-08	94647352	144337277	10933283	17	8927										
VAV3	10451	broad.mit.edu	37	chr1	108231002	108231002	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tatttaaaatgttaatcttaCctctggtagtttgagtgtcc	7	6	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.chr1:108231002C>T	ENST00000370056.4	-	18	2006		c.e18+1		VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000527011.1_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			Somatic				VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000415432.2_Splice_Site		NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	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	14	28	---	---	---	---	T	108231002	C	T	108231002	5	4	215	1	0	0	0	0	0	0	1	0	17130	521	18	2	851	2	VAV3	1	108231002	Splice_Site	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		108231002	141019619	1	8928										
CA14	23632	broad.mit.edu	37	chr1	150234607	150234607	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tgggtggacttccccgaaaaTatgtagctgcccagctccac	10	13	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.chr1:150234607T>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		Somatic					p.Y103N	NM_012113.1	NP_036245.1	WXS	Illumina GAIIx	Phase_I	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	5	96	---	---	---	---	A	150234607	T	A	150234607	3	1	215	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	8929										
CD1C	911	broad.mit.edu	37	chr1	158262542	158262542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	taaacatggtgatattcttcCtaatgctgatgggacatggt	10	6	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.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		Somatic					p.P256L	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	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	25	57	---	---	---	---	T	158262542	C	T	158262542	3	4	215	1	0	0	0	0	1	0	0	0	2976	681	24	2	781	2	CD1C	1	158262542	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	8027935	158262542	90988079	3	8930										
IFI16	3428	broad.mit.edu	37	chr1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	caaagccatttgaatatgagAccccagaaatggagaaaaaa	8	7	0	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.chr1:158988127A>G	ENST00000295809.7	+	5	913	c.658A>G	c.(658-660)Acc>Gcc	p.T220A	IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000340979.6_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		Somatic				IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A	p.T220A			WXS	Illumina GAIIx	Phase_I	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	28	29	---	---	---	---	G	158988127	A	G	158988127	3	3	215	1	0	0	0	0	1	0	0	0	7511	275	10	2	672	2	IFI16	1	158988127	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	725585	158988127	90262494	4	8931										
OR10J3	441911	broad.mit.edu	37	chr1	159284004	159284004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tgccaaggccaatccccagtGatccagaggccagttggata	11	12	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.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		Somatic					p.S149L	NM_001004467.1	NP_001004467.1	WXS	Illumina GAIIx	Phase_I	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	7	50	---	---	---	---	A	159284004	G	A	159284004	3	1	215	1	0	0	0	0	1	0	0	0	10911	1294	45	2	545	2	OR10J3	1	159284004	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	295877	159284004	89966617	5	8932										
KCNJ10	3766	broad.mit.edu	37	chr1	160012031	160012031	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gttggccggggggtccagctCcagcaggtccccatgtgcca	15	14	0	0	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		Somatic				KCNJ10_ENST00000509700.1_5'UTR	p.E98Q	NM_002241.4	NP_002232.2	WXS	Illumina GAIIx	Phase_I	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	26	56	---	---	---	---	G	160012031	C	G	160012031	3	3	215	1	0	0	0	0	1	0	0	0	8044	864	30	4	851	4	KCNJ10	1	160012031	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	728027	160012031	89238590	6	8933										
NDUFS2	4720	broad.mit.edu	37	chr1	161179951	161179951	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tatcagttttctaagaacttCtctcttcggcttgatgagtt	7	8	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.chr1:161179951C>G	ENST00000367993.3	+	8	1201	c.753C>G	c.(751-753)ttC>ttG	p.F251L	NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L|NDUFS2_ENST00000465923.1_3'UTR|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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	35	23	---	---	---	---	G	161179951	C	G	161179951	3	3	215	1	0	0	0	0	1	0	0	0	10292	912	32	4	779	4	NDUFS2	1	161179951	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	1167920	161179951	88070670	7	8934										
MFSD9	84804	broad.mit.edu	37	chr2	103353178	103353178	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cggagtcggcagcctccgccTcggttcctgtcttctgctcc	11	17	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.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		Somatic					p.E31V	NM_032718.3	NP_116107.3	WXS	Illumina GAIIx	Phase_I	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	6	26	---	---	---	---	A	103353178	T	A	103353178	3	1	215	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	8	8935										
MYO7B	4648	broad.mit.edu	37	chr2	128335737	128335737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	acttcctgtgaggggctcaaCgacgccaaggactacgccca	11	14	1	1	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_ENST00000428314.1_Silent_p.N293N|MYO7B_ENST00000389524.4_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			Somatic				MYO7B_ENST00000428314.1_Silent_p.N293N|MYO7B_ENST00000409816.2_Silent_p.N293N	p.N293N			WXS	Illumina GAIIx	Phase_I	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	9	16	---	---	---	---	T	128335737	C	T	128335737	2	4	215	1	0	0	0	0	0	0	0	1	10083	535	19	2		2	MYO7B	2	128335737	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	24982559	128335737	114863636	9	8936										
XIRP2	129446	broad.mit.edu	37	chr2	168115485	168115485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	aggccttatggtaaagggggGaagttcaatcatctctcctg	12	8	3	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.chr2:168115485G>T	ENST00000409728.1	+	11	2617	c.2528G>T	c.(2527-2529)gGa>gTa	p.G843V	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000295237.9_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		Somatic				XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V	p.G843V	NM_001199143.1	NP_001186072.1	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	T	168115485	G	T	168115485	3	4	215	1	0	0	0	0	1	0	0	0	17427	1174	41	3	11846	3	XIRP2	2	168115485	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	39779748	168115485	75083888	10	8937										
TLK1	9874	broad.mit.edu	37	chr2	171884862	171884862	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cacatacctttttgagatgtCctagtctaagtttgaaaatt	6	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.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		Somatic				TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A|TLK1_ENST00000360843.3_Missense_Mutation_p.G429A|TLK1_ENST00000431350.2_Missense_Mutation_p.G408A	p.G360A	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	G	171884862	C	G	171884862	3	3	215	1	0	0	0	0	1	0	0	0	15940	855	30	4	1117	4	TLK1	2	171884862	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	3769377	171884862	71314511	11	8938										
TTN	7273	broad.mit.edu	37	chr2	179485645	179485645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ctttggcaccttcagtattgActtcacagttgaagacaact	7	10	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.chr2:179485645A>G	ENST00000591111.1	-	197	40993	c.40769T>C	c.(40768-40770)gTc>gCc	p.V13590A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000589042.1_Missense_Mutation_p.V15231A|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_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		Somatic				TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13590A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000589830.1_RNA	p.V15231A	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	10	55	---	---	---	---	G	179485645	A	G	179485645	3	3	215	1	0	0	0	0	1	0	0	0	16732	275	10	2	62465	2	TTN	2	179485645	Missense_Mutation	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	7600783	179485645	63713728	12	8939										
ZNF804A	91752	broad.mit.edu	37	chr2	185802145	185802145	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	agtgacaatgaagaaatgtgTaaaacatggaatactgaata	9	3	0	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.chr2:185802145T>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*		Somatic					p.C674*	NM_194250.1	NP_919226.1	WXS	Illumina GAIIx	Phase_I	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	6	93	---	---	---	---	A	185802145	T	A	185802145	4	1	215	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	13	8940										
FAM134A	79137	broad.mit.edu	37	chr2	220046151	220046151	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	actggcagagacagagagtgAaagcgaggcagagctggctg	17	7	0	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.chr2:220046151A>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		Somatic					p.E282V	NM_024293.4	NP_077269.3	WXS	Illumina GAIIx	Phase_I	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	14	45	---	---	---	---	T	220046151	A	T	220046151	3	4	215	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	14	8941										
KALRN	8997	broad.mit.edu	37	chr3	124374511	124374511	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	aaggatctgggcattgtggtGgaggtaagtagagggttcca	17	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.chr3:124374511G>T	ENST00000291478.5	+	6	928	c.765G>T	c.(763-765)gtG>gtT	p.V255V	KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000393496.1_Silent_p.V293V|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																																						ENST00000291478.5																			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.(763-765)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			Somatic				KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000393496.1_Silent_p.V293V|KALRN_ENST00000360013.3_Silent_p.V1952V	p.V255V	NM_007064.3	NP_008995.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			6	928	+								A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.765G>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	8	62	---	---	---	---	T	124374511	G	T	124374511	2	4	215	1	0	0	0	0	0	0	0	1	7975	1335	47	1		1	KALRN	3	124374511	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		124374511	73647919	15	8942										
ZNF148	7707	broad.mit.edu	37	chr3	124951540	124951540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gtgaatcaccaactattagtCcaaagtgggacttatctgga	9	8	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.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|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V|ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V	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		Somatic				ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V	p.G677V	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	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	52	87	---	---	---	---	A	124951540	C	A	124951540	3	1	215	1	0	0	0	0	1	0	0	0	17731	855	30	3	358	3	ZNF148	3	124951540	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	577029	124951540	73070890	16	8943										
ASTE1	28990	broad.mit.edu	37	chr3	130743334	130743334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gtatttcagaacattatctaGtgcttcggtagggttggcaa	11	6	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.chr3:130743334G>A	ENST00000264992.3	-	3	1258	c.817C>T	c.(817-819)Cta>Tta	p.L273L	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Silent_p.L273L|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_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			Somatic				ASTE1_ENST00000514044.1_Silent_p.L273L	p.L273L	NM_014065.2	NP_054784.2	WXS	Illumina GAIIx	Phase_I	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	20	49	---	---	---	---	A	130743334	G	A	130743334	2	1	215	1	0	0	0	0	0	0	0	1	1062	1020	36	2		2	ASTE1	3	130743334	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	5791794	130743334	67279096	17	8944										
PIK3CA	5290	broad.mit.edu	37	chr3	178928235	178928235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ttaggaaactccatgcttagAgttggagtttgactggttca	11	6	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.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)	Somatic					p.E474A	NM_006218.2	NP_006209.2	WXS	Illumina GAIIx	Phase_I	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	37	53	---	---	---	---	C	178928235	A	C	178928235	3	2	215	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	18	8945										
TRIM60	166655	broad.mit.edu	37	chr4	165962535	165962535	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	atgaatgataggtctattctCtatacttttaacgattgttt	6	5	2	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.chr4:165962535C>G	ENST00000512596.1	+	3	1527	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_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			Somatic				TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_Silent_p.L437L	p.L437L	NM_152620.2	NP_689833.1	WXS	Illumina GAIIx	Phase_I	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	36	88	---	---	---	---	G	165962535	C	G	165962535	2	3	215	1	0	0	0	0	0	0	0	1	16532	900	32	4		4	TRIM60	4	165962535	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		165962535	25191741	19	8946										
EDIL3	10085	broad.mit.edu	37	chr5	83476237	83476237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gacagtgaatcccattaaatCctcggggacatttacaaaca	7	10	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.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		Somatic				EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	p.G110V	NM_005711.3	NP_005702.3	WXS	Illumina GAIIx	Phase_I	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	7	51	---	---	---	---	A	83476237	C	A	83476237	3	1	215	1	0	0	0	0	1	0	0	0	4915	855	30	3	1145	3	EDIL3	5	83476237	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		83476237	97439023	20	8947										
PCDHGA9	56107	broad.mit.edu	37	chr5	140783471	140783471	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	aatgttcattttatgaaatgGaaatacaagctgaagatggt	9	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.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|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_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	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	56107							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		Somatic				PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E318Q	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	WXS	Illumina GAIIx	Phase_I			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	79	67	---	---	---	---	C	140783471	G	C	140783471	3	2	215	1	0	0	0	0	1	0	0	0	11561	1175	41	4	954	4	PCDHGA9	5	140783471	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	57307234	140783471	40131789	21	8948										
PPARGC1B	133522	broad.mit.edu	37	chr5	149212575	149212575	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cagacccctgagccactcccCaaggcctgcagcaacccctc	7	21	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.chr5:149212575C>G	ENST00000309241.5	+	5	971	c.939C>G	c.(937-939)ccC>ccG	p.P313P	PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000394320.3_Silent_p.P313P	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			Somatic				PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000403750.1_Silent_p.P249P	p.P313P	NM_133263.3	NP_573570.3	WXS	Illumina GAIIx	Phase_I	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	8	73	---	---	---	---	G	149212575	C	G	149212575	2	3	215	1	0	0	0	0	0	0	0	1	12301	581	21	4		4	PPARGC1B	5	149212575	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	8429104	149212575	31702685	22	8949										
DPPA5	340168	broad.mit.edu	37	chr6	74063588	74063588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cctctcacctcgctcctggcGctggcggtgccactcagcca	10	19	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.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		Somatic					p.R94C	NM_001025290.2	NP_001020461.1	WXS	Illumina GAIIx	Phase_I	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	5	21	---	---	---	---	A	74063588	G	A	74063588	3	1	215	1	0	0	0	0	1	0	0	0	4737	1087	38	2	78	2	DPPA5	6	74063588	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		74063588	97051479	23	8950										
CACNA2D1	781	broad.mit.edu	37	chr7	81714091	81714091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cactaagcacctacctggatAatatcgagctaggccagtgg	10	11	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.chr7:81714091A>C	ENST00000356253.5	-	7	907	c.652T>G	c.(652-654)Tat>Gat	p.Y218D	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356860.3_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		Somatic				CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y218D	p.Y218D	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	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	19	35	---	---	---	---	C	81714091	A	C	81714091	3	2	215	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	24	8951										
GRM8	2918	broad.mit.edu	37	chr7	126086370	126086370	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ggcatatagagcatgcccagAgatactgaagcacttaaact	9	9	0	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.chr7:126086370A>T	ENST00000339582.2	-	10	3295	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	GRM8_ENST00000358373.3_Silent_p.S829S|GRM8_ENST00000444921.2_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	2918				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)	Somatic				GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S	p.S829S			WXS	Illumina GAIIx	Phase_I	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	30	49	---	---	---	---	T	126086370	A	T	126086370	2	4	215	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	44372279	126086370	33052293	25	8952										
MLL3	58508	broad.mit.edu	37	chr7	151855999	151855999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gagtacatagcttgtttctcCtcttcgtcctttttcctttt	5	11	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.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			Somatic				KMT2C_ENST00000262189.6_Silent_p.E3873E	p.E3873E			WXS	Illumina GAIIx	Phase_I					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	55	227	---	---	---	---	T	151855999	C	T	151855999	2	4	215	1	0	0	0	0	0	0	0	1	9622	680	24	2		2	MLL3	7	151855999	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	25769629	151855999	7282664	26	8953										
PKHD1L1	93035	broad.mit.edu	37	chr8	110412425	110412425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cagttgggtagattcagcttCctatatttggctcatggaac	10	8	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.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)	Somatic					p.S378Y	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	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	19	350	---	---	---	---	A	110412425	C	A	110412425	3	1	215	1	0	0	0	0	1	0	0	0	11972	855	30	3	1183	3	PKHD1L1	8	110412425	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		110412425	35951597	27	8954										
PBX3	5090	broad.mit.edu	37	chr9	128724390	128724390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ttcctttccaggttcttctgGttcttttaacctcccaaatt	4	12	3	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.chr9:128724390G>A	ENST00000373489.5	+	7	1035	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	PBX3_ENST00000342287.5_Intron|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	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		Somatic				PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000373489.5_Missense_Mutation_p.G340D|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000447726.2_Missense_Mutation_p.G265D	p.G361D			WXS	Illumina GAIIx	Phase_I	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	7	23	---	---	---	---	A	128724390	G	A	128724390	3	1	215	1	0	0	0	0	1	0	0	0	11494	1261	44	2	1045	2	PBX3	9	128724390	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		128724390	12489041	28	8955										
CARD9	64170	broad.mit.edu	37	chr9	139265071	139265071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ggctgggccgctgctccatgGcgtgcctgagcttcagcgtg	16	13	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.chr9:139265071G>C	ENST00000371732.5	-	5	875	c.710C>G	c.(709-711)gCc>gGc	p.A237G	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G|CARD9_ENST00000371734.3_Missense_Mutation_p.A237G	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		Somatic				CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G	p.A237G	NM_052813.4	NP_434700.2	WXS	Illumina GAIIx	Phase_I	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	7	40	---	---	---	---	C	139265071	G	C	139265071	3	2	215	1	0	0	0	0	1	0	0	0	2652	1203	42	4	989	4	CARD9	9	139265071	Missense_Mutation	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	10540681	139265071	1948360	29	8956										
GRIN1	2902	broad.mit.edu	37	chr9	140051399	140051399	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cgtggtggcccaggccgtgcAcgagctcctcgagaaggaga	16	12	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.chr9:140051399A>T	ENST00000371561.3	+	6	1975	c.878A>T	c.(877-879)cAc>cTc	p.H293L	GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|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		Somatic				GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000471122.1_3'UTR	p.H293L	NM_007327.3	NP_015566.1	WXS	Illumina GAIIx	Phase_I	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	12	18	---	---	---	---	T	140051399	A	T	140051399	3	4	215	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	30	8957										
GIF	2694	broad.mit.edu	37	chr11	59611368	59611368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tcaccgttgttgtcgctggaCatgagctggtaagtcaggag	14	8	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.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		Somatic				GIF_ENST00000257248.2_Missense_Mutation_p.M80I	p.M55I			WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	T	59611368	C	T	59611368	3	4	215	1	0	0	0	0	1	0	0	0	6376	478	17	2	1045	2	GIF	11	59611368	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		59611368	75395148	31	8958										
KDM2A	22992	broad.mit.edu	37	chr11	66985327	66985327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tgtcagcgcattgagctcaaGcagggctataccttcgtcat	10	11	3	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.chr11:66985327G>A	ENST00000529006.2	+	9	1259	c.813G>A	c.(811-813)aaG>aaA	p.K271K	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K	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			Somatic				KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K	p.K271K	NM_012308.2	NP_036440.1	WXS	Illumina GAIIx	Phase_I	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	5	50	---	---	---	---	A	66985327	G	A	66985327	2	1	215	1	0	0	0	0	0	0	0	1	8124	962	34	2		2	KDM2A	11	66985327	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	7373959	66985327	68021189	32	8959										
PKNOX2	63876	broad.mit.edu	37	chr11	125255503	125255503	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gaaatgtgaacaggccacccAgggctctgagtgcatcacct	11	12	2	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.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		Somatic				PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	p.Q95L	NM_022062.2	NP_071345.2	WXS	Illumina GAIIx	Phase_I	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	22	51	---	---	---	---	T	125255503	A	T	125255503	3	4	215	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	33	8960										
SUOX	6821	broad.mit.edu	37	chr12	56397664	56397664	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tggggagctgaatcctgaagAcaaggtagcccccaccgtgg	14	11	0	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.chr12:56397664A>T	ENST00000394109.3	+	3	1215	c.491A>T	c.(490-492)gAc>gTc	p.D164V	SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|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		Somatic				SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V	p.D164V			WXS	Illumina GAIIx	Phase_I	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	7	59	---	---	---	---	T	56397664	A	T	56397664	3	4	215	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	34	8961										
MYH6	4624	broad.mit.edu	37	chr14	23851721	23851721	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	cgctcctctgcctcatccagCtcatgctgcaccttgcggaa	8	17	3	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.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		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.E1904D	p.E1904D	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	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	28	63	---	---	---	---	G	23851721	C	G	23851721	3	3	215	1	0	0	0	0	1	0	0	0	10038	796	28	4	115	4	MYH6	14	23851721	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		23851721	83497819	35	8962										
ADAM20	8748	broad.mit.edu	37	chr14	70989610	70989610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	ccatactggcacacttcttaCggatgcagatcttttctgga	8	11	3	1	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		Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA	p.R672H	NM_003814.4	NP_003805.3	WXS	Illumina GAIIx	Phase_I	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	73	150	---	---	---	---	T	70989610	C	T	70989610	3	4	215	1	0	0	0	0	1	0	0	0	242	536	19	2	319	2	ADAM20	14	70989610	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08	47137889	70989610	36359930	36	8963										
ALDH6A1	4329	broad.mit.edu	37	chr14	74537998	74537998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	gctccagggactcgctcagaTggtttcattaggaaggtatt	12	8	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.chr14:74537998T>C	ENST00000553458.1	-	6	728	c.630A>G	c.(628-630)ccA>ccG	p.P210P	ALDH6A1_ENST00000556852.1_5'Flank|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.P197P|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_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			Somatic				CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.P197P	p.P210P	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	WXS	Illumina GAIIx	Phase_I	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	22	36	---	---	---	---	C	74537998	T	C	74537998	2	2	215	1	0	0	0	0	0	0	0	1	503	1451	51	2		2	ALDH6A1	14	74537998	Silent	SNP	T	TCGA-J9-A8CL-01A-11D-A34U-08	3548388	74537998	32811542	37	8964										
E4F1	1877	broad.mit.edu	37	chr16	2284613	2284613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	caggtgcacttcaggacacaCctggaggagaagccgcacgt	13	12	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_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000320700.5_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.H541H	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			Somatic				E4F1_ENST00000564139.1_Silent_p.H541H|E4F1_ENST00000565090.1_Intron	p.H541H	NM_004424.3	NP_004415.2	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	T	2284613	C	T	2284613	2	4	215	1	0	0	0	0	0	0	0	1	4874	506	18	2		2	E4F1	16	2284613	Silent	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		2284613	88070140	38	8965										
ITGAD	3681	broad.mit.edu	37	chr16	31409184	31409184	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	aagggttcctgcctcctgctGggctcgcgctgggagatcat	14	12	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			Somatic					p.L127L	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	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	5	17	---	---	---	---	T	31409184	G	T	31409184	2	4	215	1	0	0	0	0	0	0	0	1	7884	1335	47	1		1	ITGAD	16	31409184	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08	29124571	31409184	58945569	39	8966										
COG1	9382	broad.mit.edu	37	chr17	71189377	71189377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	agatggtgggcgaacggtacCgcgacctgatcgaggcggcc	17	11	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.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		Somatic				RP11-143K11.5_ENST00000580671.1_RNA	p.R57C	NM_018714.2	NP_061184.1	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	T	71189377	C	T	71189377	3	4	215	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		71189377	10005833	40	8967										
ACSS1	84532	broad.mit.edu	37	chr20	24993264	24993264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tttgatgtcgtgggggtagcCaatgacagcactttctggta	13	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.chr20:24993264C>T	ENST00000323482.4	-	12	1823	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	ACSS1_ENST00000537502.1_Missense_Mutation_p.G499S|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000432802.2_Intron	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		Somatic				ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000323482.4_Missense_Mutation_p.G582S	p.G499S			WXS	Illumina GAIIx	Phase_I	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	29	61	---	---	---	---	T	24993264	C	T	24993264	3	4	215	1	0	0	0	0	1	0	0	0	188	594	21	2	337	2	ACSS1	20	24993264	Missense_Mutation	SNP	C	TCGA-J9-A8CL-01A-11D-A34U-08		24993264	38032256	41	8968										
BRD1	23774	broad.mit.edu	37	chr22	50217771	50217771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tcactcatctcttgagcagtGaggtcatcttccaatatgat	7	10	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.chr22:50217771G>A	ENST00000216267.8	-	1	681	c.195C>T	c.(193-195)ctC>ctT	p.L65L	BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000542442.1_5'Flank	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			Somatic				BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	p.L65L	NM_014577.1	NP_055392.1	WXS	Illumina GAIIx	Phase_I	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	35	48	---	---	---	---	A	50217771	G	A	50217771	2	1	215	1	0	0	0	0	0	0	0	1	1501	1277	45	2		2	BRD1	22	50217771	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		50217771	1086795	42	8969										
DRP2	1821	broad.mit.edu	37	chrX	100511155	100511155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	tccagccccatcacagaccgGgagccagcctttggacagca	10	16	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.chrX:100511155G>A	ENST00000395209.3	+	21	2822	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R|DRP2_ENST00000538510.1_Silent_p.R765R	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			Somatic				DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	p.R765R	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	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	40	21	---	---	---	---	A	100511155	G	A	100511155	2	1	215	1	0	0	0	0	0	0	0	1	4764	1219	43	2		2	DRP2	23	100511155	Silent	SNP	G	TCGA-J9-A8CL-01A-11D-A34U-08		100511155	54759405	43	8970										
DOCK11	139818	broad.mit.edu	37	chrX	117742298	117742298	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	4	1	1.1745406824147	1.76181102362205	0.880905511811024	1	1	0	aaacagtctgcagattttttAtcaataaacaaattgctaaa	4	6	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.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			Somatic				DOCK11_ENST00000276202.7_Silent_p.L952L	p.L952L			WXS	Illumina GAIIx	Phase_I	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	27	99	---	---	---	---	G	117742298	A	G	117742298	2	3	215	1	0	0	0	0	0	0	0	1	4686	446	16	2		2	DOCK11	23	117742298	Silent	SNP	A	TCGA-J9-A8CL-01A-11D-A34U-08	17231143	117742298	37528262	44	8971										
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907854	12907854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ctccgctgctgatcgtttcaCacctgcgtttcctcggttca	8	15	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.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		Somatic					p.V97M	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina GAIIx	Phase_I					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	13	127	---	---	---	---	T	12907854	C	T	12907854	3	4	216	1	0	0	0	0	1	0	0	0	7263	478	17	2	594	2	HNRNPCL1	1	12907854	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		12907854	236342767	1	8972										
SDHC	6391	broad.mit.edu	37	chr1	161326632	161326632	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gaatgggatccgacacttggTaagttaattcgggatttgca	12	6	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.chr1:161326632T>C	ENST00000367975.2	+	5	554		c.e5+2		SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000342751.4_Intron|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			Somatic				SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site|SDHC_ENST00000342751.4_Intron		NM_003001.3	NP_002992.1	WXS	Illumina GAIIx	Phase_I	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	26	77	---	---	---	---	C	161326632	T	C	161326632	5	2	216	1	0	0	0	0	0	0	1	0	13966	1652	57	2	425	2	SDHC	1	161326632	Splice_Site	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	148418778	161326632	87923989	2	8973										
PTPRC	5788	broad.mit.edu	37	chr1	198711451	198711451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aaagtggatgtttatggttaTgttgtcaagctaaggcgaca	12	4	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.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			Somatic				PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y	p.Y882Y	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	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	17	91	---	---	---	---	C	198711451	T	C	198711451	2	2	216	1	0	0	0	0	0	0	0	1	12797	1471	51	2		2	PTPRC	1	198711451	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08	37384819	198711451	50539170	3	8974										
USH2A	7399	broad.mit.edu	37	chr1	216256915	216256915	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ccatgaaacatatatggatgAagttccaggaaccctttaaa	7	8	0	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.chr1:216256915A>T	ENST00000307340.3	-	26	5567	c.5181T>A	c.(5179-5181)ctT>ctA	p.L1727L	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.L1727L|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_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)	Somatic				RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L	p.L1727L			WXS	Illumina GAIIx	Phase_I	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	22	113	---	---	---	---	T	216256915	A	T	216256915	2	4	216	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	17545464	216256915	32993706	4	8975										
ACTA1	58	broad.mit.edu	37	chr1	229568583	229568583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cctctcttgctctgagcctcGtcgcccacgtaggaatcttt	8	15	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.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			Somatic				ACTA1_ENST00000366683.2_Silent_p.D58D	p.D58D	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	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	11	65	---	---	---	---	A	229568583	G	A	229568583	2	1	216	1	0	0	0	0	0	0	0	1	191	1136	40	2		2	ACTA1	1	229568583	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	13311668	229568583	19682038	5	8976										
MFSD2B	388931	broad.mit.edu	37	chr2	24239744	24239744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ctgcacccccttcatcgcccTggcctacttcttcctgtggt	7	18	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.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		Somatic				MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P	p.L126P			WXS	Illumina GAIIx	Phase_I	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	11	27	---	---	---	---	C	24239744	T	C	24239744	3	2	216	1	0	0	0	0	1	0	0	0	9531	1580	55	2	391	2	MFSD2B	2	24239744	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		24239744	218959629	6	8977										
DPP10	57628	broad.mit.edu	37	chr2	116534830	116534830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gcatctgacatcaggaaactGggaagtgataaagatcttgg	12	6	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.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		Somatic				DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L	p.W423L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	T	116534830	G	T	116534830	3	4	216	1	0	0	0	0	1	0	0	0	4727	1357	47	1	1493	1	DPP10	2	116534830	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	92295086	116534830	126664543	7	8978										
EOMES	8320	broad.mit.edu	37	chr3	27760935	27760935	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tgtctcatccagtgggaaccAgtattaggagactctgggtg	13	8	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.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			Somatic				EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000537516.1_Silent_p.T63T	p.T358T			WXS	Illumina GAIIx	Phase_I	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	22	75	---	---	---	---	T	27760935	A	T	27760935	2	4	216	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	8	8979										
TRANK1	9881	broad.mit.edu	37	chr3	36872850	36872850	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cctgacacgctccatctgggTgcccactcttctcctccaac	6	19	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.chr3:36872850T>A	ENST00000429976.2	-	21	8339	c.8092A>T	c.(8092-8094)Acc>Tcc	p.T2698S	TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S|TRANK1_ENST00000428977.2_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		Somatic				TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	p.T2698S	NM_014831.2	NP_055646.2	WXS	Illumina GAIIx	Phase_I	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	5	18	---	---	---	---	A	36872850	T	A	36872850	3	1	216	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	9	8980										
ITIH4	3700	broad.mit.edu	37	chr3	52858573	52858573	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tccaggatcttgattagggcTtcccgggtctggtcagggag	15	9	3	1	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_ENST00000346281.5_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	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		Somatic				ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	p.E295D	NM_002218.4	NP_002209.2	WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	G	52858573	T	G	52858573	3	3	216	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	15985723	52858573	145163857	10	8981										
EPHB1	2047	broad.mit.edu	37	chr3	134920475	134920475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tgtgcaaggtgtccgactttGgcctctcccgctacctccag	10	15	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.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		Somatic				EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	p.G764C	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	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	15	45	---	---	---	---	T	134920475	G	T	134920475	3	4	216	1	0	0	0	0	1	0	0	0	5174	1348	47	1	2336	1	EPHB1	3	134920475	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	82061902	134920475	63101955	11	8982										
ATP13A5	344905	broad.mit.edu	37	chr3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cggatgcgacaaggcagaagGctttccgtacattgtggtcc	13	10	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.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		Somatic					p.A34V	NM_198505.2	NP_940907.2	WXS	Illumina GAIIx	Phase_I	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	35	61	---	---	---	---	A	193082032	G	A	193082032	3	1	216	1	0	0	0	0	1	0	0	0	1127	1203	42	2	3669	2	ATP13A5	3	193082032	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	58161557	193082032	4940398	12	8983										
ATP10D	57205	broad.mit.edu	37	chr4	47538814	47538814	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aaaaaatggattctattgttCagtgccgagccctgaacatc	8	9	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.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		Somatic				ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	p.Q419K	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	A	47538814	C	A	47538814	3	1	216	1	0	0	0	0	1	0	0	0	1118	827	29	3	1285	3	ATP10D	4	47538814	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		47538814	143615462	13	8984										
USP53	54532	broad.mit.edu	37	chr4	120214179	120214179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cgattttcaggcaaactcagGtgccattgatgcattttgcc	9	10	2	1	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		Somatic				USP53_ENST00000274030.6_Missense_Mutation_p.G1012V	p.G1012V			WXS	Illumina GAIIx	Phase_I	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	33	74	---	---	---	---	T	120214179	G	T	120214179	3	4	216	1	0	0	0	0	1	0	0	0	17081	1261	44	3	3093	3	USP53	4	120214179	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	72675365	120214179	70940097	14	8985										
MGC42105	167359	broad.mit.edu	37	chr5	43280301	43280301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tctgggccttgggggtgcttTtgtacttcatggtgactggc	15	8	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.chr5:43280301T>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	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280301T>C																												ENST00000512796.1:c.781T>C	5.37:g.43280301T>C			Somatic				NIM1_ENST00000326035.2_Silent_p.L261L	p.L261L			WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	C	43280301	T	C	43280301	2	2	216	1	0	0	0	0	0	0	0	1	9552	1838	64	2		2	MGC42105	5	43280301	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		43280301	137634959	15	8986										
MSH3	4437	broad.mit.edu	37	chr5	79965959	79965959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tcagtttggatcatcaaataCaagtcatgaaaatttacaga	6	6	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.chr5:79965959C>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		Somatic					p.T208I	NM_002439.4	NP_002430.3	WXS	Illumina GAIIx	Phase_I	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	3	38	---	---	---	---	T	79965959	C	T	79965959	3	4	216	1	0	0	0	0	1	0	0	0	9871	478	17	2	637	2	MSH3	5	79965959	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	36685658	79965959	100949301	16	8987										
SNCAIP	9627	broad.mit.edu	37	chr5	121786541	121786541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gggaactgaagttagccaggCtgagacagctgatgcagagg	16	7	0	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.chr5:121786541C>A	ENST00000261368.8	+	10	2261	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	SNCAIP_ENST00000261367.7_Missense_Mutation_p.L714M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA	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		Somatic				SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M	p.L714M			WXS	Illumina GAIIx	Phase_I	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	9	20	---	---	---	---	A	121786541	C	A	121786541	3	1	216	1	0	0	0	0	1	0	0	0	14841	796	28	3	2033	3	SNCAIP	5	121786541	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	41820582	121786541	59128719	17	8988										
PCDHGB6	56100	broad.mit.edu	37	chr5	140788913	140788913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	atttcggaggaaatggagaaGtcaggtgtaatatagaaaca	12	3	1	2	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	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|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|PCDHGA5_ENST00000518069.1_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	56100							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		Somatic				PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_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|PCDHGA6_ENST00000517434.1_Intron	p.V382I	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	WXS	Illumina GAIIx	Phase_I			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	10	19	---	---	---	---	A	140788913	G	A	140788913	3	1	216	1	0	0	0	0	1	0	0	0	11567	1029	36	2	1146	2	PCDHGB6	5	140788913	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	19002372	140788913	40126347	18	8989										
ADAM19	8728	broad.mit.edu	37	chr5	156915452	156915452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ataatctggagggggccgggGaggaggctgggagggcttcc	21	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.chr5:156915452G>A	ENST00000517905.1	-	21	2415	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000257527.4_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	14	38	---	---	---	---	A	156915452	G	A	156915452	3	1	216	1	0	0	0	0	1	0	0	0	240	1174	41	2	397	2	ADAM19	5	156915452	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	16126539	156915452	23999808	19	8990										
BTNL3	10917	broad.mit.edu	37	chr5	180432567	180432567	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gggatgacgtagacagggggAagaacaatgtgactttgtct	15	5	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.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		Somatic					p.K366E	NM_197975.2	NP_932079.1	WXS	Illumina GAIIx	Phase_I	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	3	57	---	---	---	---	G	180432567	A	G	180432567	3	3	216	1	0	0	0	0	1	0	0	0	1566	247	9	2	1126	2	BTNL3	5	180432567	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	23517115	180432567	482693	20	8991										
LRRC16A	55604	broad.mit.edu	37	chr6	25551235	25551235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cttgattcatgccagcaccgAaaagatttctattccacgta	6	11	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.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		Somatic					p.E809G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	WXS	Illumina GAIIx	Phase_I	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	15	84	---	---	---	---	G	25551235	A	G	25551235	3	3	216	1	0	0	0	0	1	0	0	0	8971	246	9	2	2532	2	LRRC16A	6	25551235	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		25551235	145563832	21	8992										
BAT1	7919	broad.mit.edu	37	chr6	31499163	31499163	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aggcaatgcaccgctgcacaGacttcacaaagatcaccacc	7	15	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.chr6:31499163G>C	ENST00000396172.1	-	8	1517	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.S311C	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		Somatic				ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C	p.S311C			WXS	Illumina GAIIx	Phase_I	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	6	25	---	---	---	---	C	31499163	G	C	31499163	3	2	216	1	0	0	0	0	1	0	0	0	1318	942	33	4	415	4	BAT1	6	31499163	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	5947928	31499163	139615904	22	8993										
B3GALT4	8705	broad.mit.edu	37	chr6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	actgccccatggcccgatacGtcctcaagacggacgatgat	10	14	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.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		Somatic					p.V171I	NM_003782.3	NP_003773.1	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	A	33245707	G	A	33245707	3	1	216	1	0	0	0	0	1	0	0	0	1249	1145	40	2	513	2	B3GALT4	6	33245707	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	1746544	33245707	137869360	23	8994										
PEX6	5190	broad.mit.edu	37	chr6	42936629	42936629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	caccttcagtaagtggagccCaaggtgactacaggcagcag	12	11	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.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		Somatic				PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	p.G488R	NM_000287.3	NP_000278.3	WXS	Illumina GAIIx	Phase_I	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	10	55	---	---	---	---	T	42936629	C	T	42936629	3	4	216	1	0	0	0	0	1	0	0	0	11750	594	21	2	1528	2	PEX6	6	42936629	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	9690922	42936629	128178438	24	8995										
COL21A1	81578	broad.mit.edu	37	chr6	56035506	56035506	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	attaattacgctggttgttgTaaataataagattttgtcca	7	4	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.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	81578				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		Somatic				COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S	p.T323S	NM_030820.3	NP_110447.2	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	A	56035506	T	A	56035506	3	1	216	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	25	8996										
NOD1	10392	broad.mit.edu	37	chr7	30491972	30491972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cataggcgcgcaggtggctgGgggagaagccccggagaagc	19	10	0	2	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		Somatic				NOD1_ENST00000423334.2_3'UTR	p.P354L	NM_006092.2	NP_006083.1	WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	A	30491972	G	A	30491972	3	1	216	1	0	0	0	0	1	0	0	0	10516	1232	43	2	1836	2	NOD1	7	30491972	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		30491972	128646691	26	8997										
POU6F2	11281	broad.mit.edu	37	chr7	39500237	39500237	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aaaatccggcgcctgtccctTggcctgacccagactcaggt	10	15	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.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			Somatic				POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L	p.L498L			WXS	Illumina GAIIx	Phase_I	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	4	6	---	---	---	---	A	39500237	T	A	39500237	2	1	216	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	27	8998										
TAF6	6878	broad.mit.edu	37	chr7	99704994	99704994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aagggcactgccgctgagtgGggacggggacgatgccgggg	21	9	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.chr7:99704994G>T	ENST00000344095.4	-	15	2434	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|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		Somatic				TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T|AP4M1_ENST00000421755.1_Intron	p.P637T	NM_005641.3	NP_005632.1	WXS	Illumina GAIIx	Phase_I	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	24	50	---	---	---	---	T	99704994	G	T	99704994	3	4	216	1	0	0	0	0	1	0	0	0	15527	1232	43	1	128	1	TAF6	7	99704994	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	60204757	99704994	59433669	28	8999										
LMOD2	442721	broad.mit.edu	37	chr7	123296111	123296111	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tgtcagccgaggagctgaagGagctagagagagagttggaa	17	5	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.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		Somatic				LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	p.E32Q	NM_207163.1	NP_997046.1	WXS	Illumina GAIIx	Phase_I	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	9	6	---	---	---	---	C	123296111	G	C	123296111	3	2	216	1	0	0	0	0	1	0	0	0	8857	1175	41	4	96	4	LMOD2	7	123296111	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	23591117	123296111	35842552	29	9000										
CDK5	1020	broad.mit.edu	37	chr7	150754243	150754243	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gccttgaacacagttccgtaGgtgcctaggggaaggaggtc	15	9	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.chr7:150754243G>C	ENST00000485972.1	-	2	723	c.42C>G	c.(40-42)acC>acG	p.T14T	SLC4A2_ENST00000485713.1_5'Flank|SLC4A2_ENST00000413384.2_5'Flank|CDK5_ENST00000297518.4_Silent_p.T14T	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			Somatic				CDK5_ENST00000297518.4_Silent_p.T14T	p.T14T	NM_004935.3	NP_004926.1	WXS	Illumina GAIIx	Phase_I	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	33	69	---	---	---	---	C	150754243	G	C	150754243	2	2	216	1	0	0	0	0	0	0	0	1	3142	987	35	4		4	CDK5	7	150754243	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	27458132	150754243	8384420	30	9001										
FREM1	158326	broad.mit.edu	37	chr9	14846021	14846021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tagccggacagcaccaatgtCgtcattgtcgacaacctgaa	9	12	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.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		Somatic				FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N	p.D445N			WXS	Illumina GAIIx	Phase_I	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	8	10	---	---	---	---	T	14846021	C	T	14846021	3	4	216	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	31	9002										
NTNG2	84628	broad.mit.edu	37	chr9	135073943	135073943	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ggcggcacctatgtgcagcgGgagaacctctacaagtactt	12	11	1	1	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_ENST00000372179.3_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000393228.4_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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	15	27	---	---	---	---	T	135073943	G	T	135073943	2	4	216	1	0	0	0	0	0	0	0	1	10705	1219	43	1		1	NTNG2	9	135073943	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	120227922	135073943	6139488	32	9003										
ANKRD26	22852	broad.mit.edu	37	chr10	27323868	27323868	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tttttgcacaatagcatgaaActggtcttggatattaatca	7	6	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.chr10:27323868A>C	ENST00000376087.4	-	24	3676	c.3511T>G	c.(3511-3513)Ttt>Gtt	p.F1171V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V	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		Somatic				ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V	p.F1171V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	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	38	87	---	---	---	---	C	27323868	A	C	27323868	3	2	216	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		27323868	108210879	33	9004										
PI4K2A	55361	broad.mit.edu	37	chr10	99426205	99426205	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ctcttttcagatcctttttaCtgggcctggttgccccaggc	9	13	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.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*		Somatic				PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	p.Y365*	NM_018425.2	NP_060895.1	WXS	Illumina GAIIx	Phase_I	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	16	36	---	---	---	---	G	99426205	C	G	99426205	4	3	216	1	0	0	0	0	0	1	0	0	11871	576	20	4	1121	4	PI4K2A	10	99426205	Nonsense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	72102337	99426205	36108542	34	9005										
OR5D13	390142	broad.mit.edu	37	chr11	55541529	55541529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ggctatgctttattattgccAtattcaatgaggtgagcagc	10	7	1	2	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		Somatic					p.I206V	NM_001001967.1	NP_001001967.1	WXS	Illumina GAIIx	Phase_I	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	24	66	---	---	---	---	G	55541529	A	G	55541529	3	3	216	1	0	0	0	0	1	0	0	0	11154	217	8	2	618	2	OR5D13	11	55541529	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		55541529	79464987	35	9006										
SAPS3	55291	broad.mit.edu	37	chr11	68359047	68359047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ctctcatttttatttagggaAatattgccttgtttgaagca	7	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.chr11:68359047A>G	ENST00000393800.2	+	18	2043	c.1789A>G	c.(1789-1791)Aat>Gat	p.N597D	PPP6R3_ENST00000393799.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D	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		Somatic				PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D	p.N597D			WXS	Illumina GAIIx	Phase_I	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	4	30	---	---	---	---	G	68359047	A	G	68359047	3	3	216	1	0	0	0	0	1	0	0	0	13838	14	1	2	1851	2	SAPS3	11	68359047	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	12817518	68359047	66647469	36	9007										
CCDC81	60494	broad.mit.edu	37	chr11	86131085	86131085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	agcgagacctggaggacaagGcttttgaacggtaatgcctg	14	8	0	2	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_ENST00000354755.1_Missense_Mutation_p.A513T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T	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		Somatic				CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T	p.A338T			WXS	Illumina GAIIx	Phase_I	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	12	29	---	---	---	---	A	86131085	G	A	86131085	3	1	216	1	0	0	0	0	1	0	0	0	2855	1203	42	2	1861	2	CCDC81	11	86131085	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	17772038	86131085	48875431	37	9008										
SRRM4	84530	broad.mit.edu	37	chr12	119583327	119583327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aaaccagctcagccaggtctCggggccaggagaaggggagc	16	11	2	1	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		Somatic					p.R305W	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---	T	119583327	C	T	119583327	3	4	216	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		119583327	14268568	38	9009										
BRCA2	675	broad.mit.edu	37	chr13	32911237	32911237	+	Frame_Shift_Del	DEL	T	T	-													0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	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)actfs	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)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs	p.T915fs	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	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	216	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	39	9010										
C13orf16	121793	broad.mit.edu	37	chr13	111973280	111973280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	agaactctccgcggcacctcCtgaagcaattcacaggtatg	9	13	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.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			Somatic					p.L15L	NM_152324.1	NP_689537.1	WXS	Illumina GAIIx	Phase_I	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	10	71	---	---	---	---	T	111973280	C	T	111973280	2	4	216	1	0	0	0	0	0	0	0	1	1719	680	24	2		2	C13orf16	13	111973280	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	79062043	111973280	3196598	40	9011										
C14orf105	55195	broad.mit.edu	37	chr14	57960372	57960372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ccgagggagtctctacctctTtgttttgcaaaggtgctact	10	10	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.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_ENST00000534126.1_Missense_Mutation_p.K21R|C14orf105_ENST00000526336.1_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		Somatic				C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R	p.K21R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	C	57960372	T	C	57960372	3	2	216	1	0	0	0	0	1	0	0	0	1737	1841	64	2	852	2	C14orf105	14	57960372	Missense_Mutation	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		57960372	49389168	41	9012										
PPM1A	5494	broad.mit.edu	37	chr14	60749576	60749576	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tttgccaagtggacttgaatCgtggtcattctttgctgtgt	11	7	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.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_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*	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*		Somatic				PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*	p.S52*	NM_021003.4	NP_066283.1	WXS	Illumina GAIIx	Phase_I	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	13	244	---	---	---	---	A	60749576	C	A	60749576	4	1	216	1	0	0	0	0	0	1	0	0	12335	893	31	3	380	3	PPM1A	14	60749576	Nonsense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	2789204	60749576	46599964	42	9013										
SMOC1	64093	broad.mit.edu	37	chr14	70480116	70480116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cttttaggctgtccagaaggGaagaaaatggagtttatcac	11	6	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	15	25	---	---	---	---	A	70480116	G	A	70480116	2	1	216	1	0	0	0	0	0	0	0	1	14801	1161	41	2		2	SMOC1	14	70480116	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	9730540	70480116	36869424	43	9014										
PPP1R13B	23368	broad.mit.edu	37	chr14	104251154	104251154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tgttcactgttctcagttggGgagtcctcgtgtcgaaggaa	13	8	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.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			Somatic					p.S85S	NM_015316.2	NP_056131.2	WXS	Illumina GAIIx	Phase_I	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	4	40	---	---	---	---	A	104251154	G	A	104251154	2	1	216	1	0	0	0	0	0	0	0	1	12357	1219	43	2		2	PPP1R13B	14	104251154	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	33771038	104251154	3098386	44	9015										
C15orf23	90417	broad.mit.edu	37	chr15	40675138	40675138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ccgcctagctaccggaagttTctatttgaaacccaggcggc	10	13	1	1	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_ENST00000416151.2_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F|KNSTRN_ENST00000608100.1_5'Flank	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			Somatic				KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F	p.F34F	NM_001142761.1	NP_001136233.1	WXS	Illumina GAIIx	Phase_I					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	13	46	---	---	---	---	C	40675138	T	C	40675138	2	2	216	1	0	0	0	0	0	0	0	1	1785	1780	62	2		2	C15orf23	15	40675138	Silent	SNP	T	TCGA-J9-A8CM-01A-11D-A34U-08		40675138	61856254	45	9016										
ISLR	3671	broad.mit.edu	37	chr15	74467974	74467974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tgctggcactgcactgtgatGtggacgggcagccggcccct	15	13	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.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		Somatic				RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M	p.V259M	NM_005545.3	NP_005536.1	WXS	Illumina GAIIx	Phase_I	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	13	45	---	---	---	---	A	74467974	G	A	74467974	3	1	216	1	0	0	0	0	1	0	0	0	7858	1377	48	2	777	2	ISLR	15	74467974	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	33792836	74467974	28063418	46	9017										
LINGO1	84894	broad.mit.edu	37	chr15	77907021	77907021	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gggcagtagcacatcagggaAgtccttgaactccttgccct	11	12	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.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		Somatic				LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	p.F410I	NM_032808.5	NP_116197.4	WXS	Illumina GAIIx	Phase_I	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	5	10	---	---	---	---	T	77907021	A	T	77907021	3	4	216	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	47	9018										
PDE8A	5151	broad.mit.edu	37	chr15	85626866	85626866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	tggagaggtgcgatcacaacTgaaactcaggtaattctacc	10	9	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.chr15:85626866T>A	ENST00000310298.4	+	7	878	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_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		Somatic				PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q	p.L209Q			WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	A	85626866	T	A	85626866	3	1	216	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	48	9019										
MMP25	64386	broad.mit.edu	37	chr16	3100525	3100525	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	actcactttgacgatgaggaGacctggacttttgggtcaaa	11	8	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.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		Somatic				MMP25_ENST00000570755.1_3'UTR	p.E213D	NM_022468.4	NP_071913.1	WXS	Illumina GAIIx	Phase_I	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	11	30	---	---	---	---	T	3100525	G	T	3100525	3	4	216	1	0	0	0	0	1	0	0	0	9662	933	33	3	653	3	MMP25	16	3100525	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		3100525	87254228	49	9020										
PARN	5073	broad.mit.edu	37	chr16	14540829	14540829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gggctctgcacaggaatcggTctgctcaagctcagtgtcgg	14	11	4	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_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000539279.1_Missense_Mutation_p.T419S	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		Somatic				PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000539279.1_Missense_Mutation_p.T419S	p.T594S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	WXS	Illumina GAIIx	Phase_I	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	15	42	---	---	---	---	A	14540829	T	A	14540829	3	1	216	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	50	9021										
GPR97	222487	broad.mit.edu	37	chr16	57718006	57718006	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ggggctgtcttccactacttCctgctctgtgccttcacctg	9	15	3	0	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_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F	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			Somatic				GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F	p.F348F	NM_170776.4	NP_740746.4	WXS	Illumina GAIIx	Phase_I	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	14	40	---	---	---	---	T	57718006	C	T	57718006	2	4	216	1	0	0	0	0	0	0	0	1	6720	854	30	2		2	GPR97	16	57718006	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	43177177	57718006	32636747	51	9022										
ADAMTS18	170692	broad.mit.edu	37	chr16	77396062	77396062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	aaatcctgttagtaagatggCatgatcatgtctcttgccat	8	8	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.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		Somatic					p.A386S	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	A	77396062	C	A	77396062	3	1	216	1	0	0	0	0	1	0	0	0	263	710	25	3	2577	3	ADAMTS18	16	77396062	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	19678056	77396062	12958691	52	9023										
CA5A	763	broad.mit.edu	37	chr16	87960438	87960438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gcaggatgccgcttcataggAgaccctgagtggcttcagct	13	11	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.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		Somatic				CA5A_ENST00000568801.1_5'UTR	p.S86P	NM_001739.1	NP_001730.1	WXS	Illumina GAIIx	Phase_I	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	11	17	---	---	---	---	G	87960438	A	G	87960438	3	3	216	1	0	0	0	0	1	0	0	0	2519	304	11	2	685	2	CA5A	16	87960438	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08	10564376	87960438	2394315	53	9024										
NDEL1	81565	broad.mit.edu	37	chr17	8350176	8350176	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gagcagttgcataagtatgtGagagagctggagcaggccaa	15	6	0	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.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			Somatic				NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V	p.V115V	NM_030808.4	NP_110435.1	WXS	Illumina GAIIx	Phase_I	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	9	26	---	---	---	---	T	8350176	G	T	8350176	2	4	216	1	0	0	0	0	0	0	0	1	10244	1277	45	3		3	NDEL1	17	8350176	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		8350176	72845034	54	9025										
AOC3	8639	broad.mit.edu	37	chr17	41004623	41004623	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ttccttttggagtcccaggcCcccaagacaatacgtgatgc	9	13	0	2	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			Somatic					p.A421A	NM_003734.2	NP_003725.1	WXS	Illumina GAIIx	Phase_I	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	7	32	---	---	---	---	G	41004623	C	G	41004623	2	3	216	1	0	0	0	0	0	0	0	1	728	610	22	4		4	AOC3	17	41004623	Silent	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	32654447	41004623	40190587	55	9026										
PDK2	5164	broad.mit.edu	37	chr17	48182745	48182745	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ccccacacaggtatgtccagAgcctcctggacatcatggag	10	14	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		Somatic				PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	p.S91R	NM_002611.4	NP_002602.2	WXS	Illumina GAIIx	Phase_I	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	7	17	---	---	---	---	C	48182745	A	C	48182745	3	2	216	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	56	9027										
MRC2	9902	broad.mit.edu	37	chr17	60765674	60765674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ttcaggtccagggccaggaaCcccagagccgggtgaagtgg	16	11	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.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		Somatic				MRC2_ENST00000446119.2_5'UTR	p.P991S	NM_006039.4	NP_006030.2	WXS	Illumina GAIIx	Phase_I	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	8	23	---	---	---	---	T	60765674	C	T	60765674	3	4	216	1	0	0	0	0	1	0	0	0	9758	507	18	2	3053	2	MRC2	17	60765674	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	12582929	60765674	20429536	57	9028										
EXOSC5	56915	broad.mit.edu	37	chr19	41897754	41897754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cagaaaggatacagagccggCatcgctgacaacctgcagca	11	12	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.chr19:41897754C>T	ENST00000221233.4	-	3	526	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_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		Somatic				EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A126T	NM_020158.3	NP_064543.3	WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---	T	41897754	C	T	41897754	3	4	216	1	0	0	0	0	1	0	0	0	5318	710	25	2	347	2	EXOSC5	19	41897754	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08		41897754	17231229	58	9029										
SIGLEC8	27181	broad.mit.edu	37	chr19	51958791	51958791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ctcgaggcagctccagcagcCcagggtttgaggaccgtgag	15	12	0	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.chr19:51958791C>T	ENST00000321424.3	-	4	998	c.932G>A	c.(931-933)gGg>gAg	p.G311E	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	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		Somatic				SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	p.G311E	NM_014442.2	NP_055257.2	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	T	51958791	C	T	51958791	3	4	216	1	0	0	0	0	1	0	0	0	14314	623	22	2	583	2	SIGLEC8	19	51958791	Missense_Mutation	SNP	C	TCGA-J9-A8CM-01A-11D-A34U-08	10061037	51958791	7170192	59	9030										
MYLK2	85366	broad.mit.edu	37	chr20	30418922	30418922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ataagacagacatgtggagtAtgggggtgatcacctacatg	13	6	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.chr20:30418922A>G	ENST00000375994.2	+	9	1675	c.1402A>G	c.(1402-1404)Atg>Gtg	p.M468V	MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V|MYLK2_ENST00000468730.1_3'UTR			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		Somatic				MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V	p.M468V			WXS	Illumina GAIIx	Phase_I	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	23	42	---	---	---	---	G	30418922	A	G	30418922	3	3	216	1	0	0	0	0	1	0	0	0	10057	449	16	2	1436	2	MYLK2	20	30418922	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		30418922	32606598	60	9031										
FAM83C	128876	broad.mit.edu	37	chr20	33875275	33875275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	accccactgccaaggttaagGggctggtactattatggttg	12	9	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.chr20:33875275G>T	ENST00000374408.3	-	4	1403	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|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	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		Somatic					p.P436H	NM_178468.5	NP_848563.1	WXS	Illumina GAIIx	Phase_I	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	8	20	---	---	---	---	T	33875275	G	T	33875275	3	4	216	1	0	0	0	0	1	0	0	0	5635	1232	43	1	940	1	FAM83C	20	33875275	Missense_Mutation	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	3456353	33875275	29150245	61	9032										
RPRD1B	58490	broad.mit.edu	37	chr20	36686047	36686047	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	cttctgcaggacccctcttgGtaggtcttgacccccagaga	10	14	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	T	36686047	G	T	36686047	5	4	216	1	0	0	0	0	0	0	1	0	13616	1275	44	3	543	3	RPRD1B	20	36686047	Splice_Site	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08	2810772	36686047	26339473	62	9033										
BAIAP2L2	80115	broad.mit.edu	37	chr22	38494424	38494424	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	gaggccagactcactttgatGaactgcatgtccagcttggt	11	10	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.chr22:38494424G>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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	8	39	---	---	---	---	A	38494424	G	A	38494424	2	1	216	1	0	0	0	0	0	0	0	1	1303	1281	45	2		2	BAIAP2L2	22	38494424	Silent	SNP	G	TCGA-J9-A8CM-01A-11D-A34U-08		38494424	12810142	63	9034										
DACH2	117154	broad.mit.edu	37	chrX	85769329	85769329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	2	1	0.582541054451167	1.51460674157303	0.360620652755484	1	1	0	ttctttgggagtgttgcaggAaaatgcccgccttctgaccc	11	11	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.chrX:85769329A>G	ENST00000373125.4	+	3	575	c.575A>G	c.(574-576)gAa>gGa	p.E192G	DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373131.1_Missense_Mutation_p.E179G|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	2	---	---	---	---	G	85769329	A	G	85769329	3	3	216	1	0	0	0	0	1	0	0	0	4221	246	9	2	585	2	DACH2	23	85769329	Missense_Mutation	SNP	A	TCGA-J9-A8CM-01A-11D-A34U-08		85769329	69501231	64	9035										
MACF1	23499	broad.mit.edu	37	chr1	39908220	39908220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacccaaaagtcattgaagTtgagctcgcaaagcaccatg	9	10	1	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.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_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_ENST00000564288.1_Missense_Mutation_p.V6362A|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		Somatic				MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A	p.V6362A			WXS	Illumina GAIIx	Phase_I	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	7	68	---	---	---	---	C	39908220	T	C	39908220	3	2	217	1	0	0	0	0	1	0	0	0	9144	1725	60	2	19349	2	MACF1	1	39908220	Missense_Mutation	SNP	T	TCGA-J9-A8CN-01A-11D-A34U-08		39908220	209342401	1	9036										
FLG	2312	broad.mit.edu	37	chr1	152280616	152280616	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcttctgagtgtccctcaCtgtcactgtcctggctaaca	7	13	4	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.chr1:152280616C>G	ENST00000368799.1	-	3	6781	c.6746G>C	c.(6745-6747)aGt>aCt	p.S2249T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_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		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2249T	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	6	325	---	---	---	---	G	152280616	C	G	152280616	3	3	217	1	0	0	0	0	1	0	0	0	5922	565	20	4	5443	4	FLG	1	152280616	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	112372396	152280616	96970005	2	9037										
LHX9	56956	broad.mit.edu	37	chr1	197887072	197887072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catggaggagatggagcgcaGatccaagactgaggcccgtc	15	10	0	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.chr1:197887072G>T	ENST00000367387.4	+	1	544	c.119G>T	c.(118-120)aGa>aTa	p.R40I	LHX9_ENST00000337020.2_Missense_Mutation_p.R40I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367390.3_Missense_Mutation_p.R31I|LHX9_ENST00000367391.1_Missense_Mutation_p.R31I	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		Somatic				LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I	p.R31I	NM_001014434.1	NP_001014434.1	WXS	Illumina GAIIx	Phase_I	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	8	94	---	---	---	---	T	197887072	G	T	197887072	3	4	217	1	0	0	0	0	1	0	0	0	8777	942	33	3	153	3	LHX9	1	197887072	Missense_Mutation	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08	45606456	197887072	51363549	3	9038										
TPO	7173	broad.mit.edu	37	chr2	1480927	1480927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgctcttcggccgcctgcGgcaccggggaccaaggcgcg	15	17	1	0	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_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_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		Somatic				TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_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	p.G297S	NM_000547.5	NP_000538.3	WXS	Illumina GAIIx	Phase_I	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	3	8	---	---	---	---	A	1480927	G	A	1480927	3	1	217	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	4	9039										
DDR1	780	broad.mit.edu	37	chr6	30859877	30859877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtctggccaggctatgactAtgtgggatggagcaaccaca	14	9	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.chr6:30859877A>G	ENST00000324771.8	+	9	1312	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V			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		Somatic				DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|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_ENST00000508312.1_Missense_Mutation_p.Y273C	p.Y255C			WXS	Illumina GAIIx	Phase_I	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	8	129	---	---	---	---	G	30859877	A	G	30859877	3	3	217	1	0	0	0	0	1	0	0	0	4336	449	16	2	786	2	DDR1	6	30859877	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		30859877	140255190	5	9040										
NDUFB9	4715	broad.mit.edu	37	chr8	125555467	125555467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcagcatccacagccatacAtcttccctgactctcctggg	7	16	3	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.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		Somatic				NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V	p.I81V			WXS	Illumina GAIIx	Phase_I	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	5	60	---	---	---	---	G	125555467	A	G	125555467	3	3	217	1	0	0	0	0	1	0	0	0	10288	217	8	2	247	2	NDUFB9	8	125555467	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		125555467	20808555	6	9041										
DENND1A	57706	broad.mit.edu	37	chr9	126146148	126146148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggactctctgcctcgtcgCcttccgcgctgtctgactcc	9	18	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.chr9:126146148C>T	ENST00000373624.2	-	21	1823	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	100	---	---	---	---	T	126146148	C	T	126146148	3	4	217	1	0	0	0	0	1	0	0	0	4426	739	26	2	1415	2	DENND1A	9	126146148	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		126146148	15067283	7	9042										
RALGDS	5900	broad.mit.edu	37	chr9	135979208	135979208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccaggtagggaacggtgcCctggatgatgccctgtgaca	15	11	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.chr9:135979208C>T	ENST00000372050.3	-	11	1705	c.1684G>A	c.(1684-1686)Ggc>Agc	p.G562S	RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393160.3_Missense_Mutation_p.G507S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|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		Somatic	OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S	p.G507S	NM_001042368.1	NP_001035827.1	WXS	Illumina GAIIx	Phase_I	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	24	51	---	---	---	---	T	135979208	C	T	135979208	3	4	217	1	0	0	0	0	1	0	0	0	13016	623	22	2	1092	2	RALGDS	9	135979208	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08	9833060	135979208	5234223	8	9043										
OR5AS1	219447	broad.mit.edu	37	chr11	55798756	55798756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatttcccatgtttaatccaAtaatttatagtttcagaaac	3	7	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.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		Somatic					p.I288V	NM_001001921.1	NP_001001921.1	WXS	Illumina GAIIx	Phase_I	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	3	68	---	---	---	---	G	55798756	A	G	55798756	3	3	217	1	0	0	0	0	1	0	0	0	11146	101	4	2	864	2	OR5AS1	11	55798756	Missense_Mutation	SNP	A	TCGA-J9-A8CN-01A-11D-A34U-08		55798756	79207760	9	9044										
KSR2	283455	broad.mit.edu	37	chr12	118199016	118199016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacgatgttgggggtgcgCggcggggtgcggaccgcgtg	23	8	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			Somatic				KSR2_ENST00000339824.5_Silent_p.P262P	p.P233P	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	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	6	229	---	---	---	---	T	118199016	C	T	118199016	2	4	217	1	0	0	0	0	0	0	0	1	8582	755	27	2		2	KSR2	12	118199016	Silent	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		118199016	15652879	10	9045										
MYH7	4625	broad.mit.edu	37	chr14	23885342	23885342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaccctcagggcctcgttGcggctgcgtgtctctgcgtc	12	15	3	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.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			Somatic					p.R1608R	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	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	11	96	---	---	---	---	T	23885342	G	T	23885342	2	4	217	1	0	0	0	0	0	0	0	1	10039	1306	46	3		3	MYH7	14	23885342	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		23885342	83464198	11	9046										
LRRK1	79705	broad.mit.edu	37	chr15	101595338	101595338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgactacgggatttcgagGcagtcattccatgagggcgc	13	10	2	2	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			Somatic				LRRK1_ENST00000388948.3_Silent_p.R1414R|RP11-505E24.2_ENST00000559857.1_RNA	p.R1411R			WXS	Illumina GAIIx	Phase_I	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	24	43	---	---	---	---	A	101595338	G	A	101595338	2	1	217	1	0	0	0	0	0	0	0	1	9032	1194	42	2		2	LRRK1	15	101595338	Silent	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		101595338	936054	12	9047										
MBTPS1	8720	broad.mit.edu	37	chr16	84121008	84121008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcgggcgatgttatcttcAaagtcaatgccgcctactcc	9	12	3	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.chr16:84121008A>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		Somatic				MBTPS1_ENST00000569770.1_5'UTR	p.F363L	NM_003791.2	NP_003782.1	WXS	Illumina GAIIx	Phase_I	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	15	84	---	---	---	---	C	84121008	A	C	84121008	3	2	217	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		84121008	6233745	13	9048										
C19orf44	84167	broad.mit.edu	37	chr19	16611793	16611793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagatgagaaacacttactcCtgaaagagaaccctgtgctc	8	10	0	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.chr19:16611793C>A	ENST00000221671.3	+	2	346	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	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		Somatic				C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron	p.L64M	NM_032207.2	NP_115583.1	WXS	Illumina GAIIx	Phase_I	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	63	96	---	---	---	---	A	16611793	C	A	16611793	3	1	217	1	0	0	0	0	1	0	0	0	1927	680	24	1	192	1	C19orf44	19	16611793	Missense_Mutation	SNP	C	TCGA-J9-A8CN-01A-11D-A34U-08		16611793	42517190	14	9049										
ZNF91	7644	broad.mit.edu	37	chr19	23544860	23544860	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcttatgtttagcaagggtTgaagaatggctaaaagcttt	10	5	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.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			Somatic				ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S	p.S307S	NM_003430.2	NP_003421.2	WXS	Illumina GAIIx	Phase_I	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	53	81	---	---	---	---	A	23544860	T	A	23544860	2	1	217	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	15	9050										
PFKL	5211	broad.mit.edu	37	chr21	45745845	45745845	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcctcacctgtttccaggGtggcgctccaaccccctttg	11	16	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.chr21:45745845G>A	ENST00000349048.4	+	20	2046	c.1991G>A	c.(1990-1992)gGt>gAt	p.G664D	PFKL_ENST00000403390.1_Splice_Site_p.G711D|AP001062.8_ENST00000422357.1_RNA	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.(2131-2133)gGt>gAt		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			Somatic				PFKL_ENST00000349048.4_Splice_Site_p.G664D	p.G711D			WXS	Illumina GAIIx	Phase_I	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	21	2132	+			664					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.2132G>A	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	7	8	---	---	---	---	A	45745845	G	A	45745845	5	1	217	1	0	0	0	0	0	0	1	0	11764	1275	44	2	2069	2	PFKL	21	45745845	Splice_Site	SNP	G	TCGA-J9-A8CN-01A-11D-A34U-08		45745845	2384050	16	9051										
PPOX	5498	broad.mit.edu	37	chr1	161140216	161140216	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	cagggatttggacatttggtGccatcttcagaagatccagg	12	8	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.chr1:161140216G>A	ENST00000367999.4	+	10	1271	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Silent_p.V335V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000544598.1_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			Somatic				PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Silent_p.V80V|PPOX_ENST00000352210.5_Silent_p.V335V|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.V335V	NM_001122764.1	NP_001116236.1	WXS	Illumina GAIIx	Phase_I	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	23	42	---	---	---	---	A	161140216	G	A	161140216	2	1	218	1	0	0	0	0	0	0	0	1	12348	1306	46	2		2	PPOX	1	161140216	Silent	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		161140216	88110405	1	9052										
USH2A	7399	broad.mit.edu	37	chr1	216243582	216243582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tcatcccaggtcacctcaatGctgtatccatttaagctgcg	7	13	3	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.chr1:216243582G>C	ENST00000307340.3	-	30	6296	c.5910C>G	c.(5908-5910)agC>agG	p.S1970R	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1970R|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)	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)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.S1970R	p.S1970R			WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	C	216243582	G	C	216243582	3	2	218	1	0	0	0	0	1	0	0	0	17033	1310	46	4	9870	4	USH2A	1	216243582	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	55103366	216243582	33007039	2	9053										
NBAS	51594	broad.mit.edu	37	chr2	15415631	15415631	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ggtcacagcttttggagaaaAtgtaactgcatctaccacag	9	9	2	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.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		Somatic				NBAS_ENST00000441750.1_Missense_Mutation_p.F1781V	p.F1901V	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	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	14	45	---	---	---	---	C	15415631	A	C	15415631	3	2	218	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	9054										
DNAH7	56171	broad.mit.edu	37	chr2	196737041	196737041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ctggtcttgacaaacaaacaCcttgaatgacacgggagaaa	9	9	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.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		Somatic					p.G2189V	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	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	9	109	---	---	---	---	A	196737041	C	A	196737041	3	1	218	1	0	0	0	0	1	0	0	0	4606	507	18	3	5612	3	DNAH7	2	196737041	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	181321410	196737041	46462332	4	9055										
FAM194A	131831	broad.mit.edu	37	chr3	150404109	150404109	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	taacttagatgccagacattCaggttcagctttctctttag	7	9	3	2	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		Somatic				FAM194A_ENST00000491361.1_Missense_Mutation_p.E50Q	p.E196Q	NM_152394.3	NP_689607.2	WXS	Illumina GAIIx	Phase_I	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	19	78	---	---	---	---	G	150404109	C	G	150404109	3	3	218	1	0	0	0	0	1	0	0	0	5526	835	29	4	1449	4	FAM194A	3	150404109	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		150404109	47618321	5	9056										
CLOCK	9575	broad.mit.edu	37	chr4	56304467	56304467	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	acctgtaaaaattgttgcggTggctgggtcagctgagcctg	14	8	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.chr4:56304467T>G	ENST00000309964.4	-	21	2593	c.2343A>C	c.(2341-2343)ccA>ccC	p.P781P	CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_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			Somatic				CLOCK_ENST00000513440.1_Silent_p.P781P|CLOCK_ENST00000381322.1_Silent_p.P781P	p.P781P	NM_004898.3	NP_004889.1	WXS	Illumina GAIIx	Phase_I	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	25	44	---	---	---	---	G	56304467	T	G	56304467	2	3	218	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	6	9057										
DCHS2	54798	broad.mit.edu	37	chr4	155219735	155219735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tattacagagctcctaggtgGatctcccaggtcagagcaca	10	11	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.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																																						ENST00000357232.4																			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		Somatic					p.P1456T	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4365	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	49	97	---	---	---	---	T	155219735	G	T	155219735	3	4	218	1	0	0	0	0	1	0	0	0	4288	1174	41	3	4416	3	DCHS2	4	155219735	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	98915268	155219735	35934541	7	9058										
CDH10	1008	broad.mit.edu	37	chr5	24535310	24535310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	agcctcccatctggccgcccAtgtctttggcctggatgacc	10	16	2	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)	Somatic					p.M242T	NM_006727.3	NP_006718.2	WXS	Illumina GAIIx	Phase_I	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	23	58	---	---	---	---	G	24535310	A	G	24535310	3	3	218	1	0	0	0	0	1	0	0	0	3096	217	8	2	1673	2	CDH10	5	24535310	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08		24535310	156379950	8	9059										
NIPBL	25836	broad.mit.edu	37	chr5	36976330	36976330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tgcctgttttacaacagaacActtcagttgctgcaaaacaa	6	10	1	1	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		Somatic				NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T441P	p.T441P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina GAIIx	Phase_I	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	27	59	---	---	---	---	C	36976330	A	C	36976330	3	2	218	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	9	9060										
C6	729	broad.mit.edu	37	chr5	41161838	41161838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tttccttcactgattctaacCactcagaaaatgtcttctcc	3	13	5	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.chr5:41161838C>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		Somatic				C6_ENST00000337836.5_Missense_Mutation_p.W472L|C6_ENST00000475349.1_5'UTR	p.W472L	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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	5	111	---	---	---	---	A	41161838	C	A	41161838	3	1	218	1	0	0	0	0	1	0	0	0	2315	595	21	1	1425	1	C6	5	41161838	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	4185508	41161838	139753422	10	9061										
ANKRD55	79722	broad.mit.edu	37	chr5	55407577	55407577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ccttcttctggggccgactgCtctgggagggagggggtcga	18	10	3	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.chr5:55407577C>T	ENST00000341048.4	-	10	1149	c.998G>A	c.(997-999)aGc>aAc	p.S333N	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N	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		Somatic				ANKRD55_ENST00000504958.2_Missense_Mutation_p.S290N|ANKRD55_ENST00000434982.2_Missense_Mutation_p.S45N|ANKRD55_ENST00000505970.2_5'UTR	p.S333N	NM_024669.2	NP_078945.2	WXS	Illumina GAIIx	Phase_I	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	11	207	---	---	---	---	T	55407577	C	T	55407577	3	4	218	1	0	0	0	0	1	0	0	0	681	797	28	2	858	2	ANKRD55	5	55407577	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	14245739	55407577	125507683	11	9062										
POU5F2	134187	broad.mit.edu	37	chr5	93077212	93077212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gggcatcggccctctggggcCgcccccaccactgcctggaa	13	18	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	RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_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		Somatic				FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	p.G20S	NM_153216.1	NP_694948.1	WXS	Illumina GAIIx	Phase_I	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	14	9	---	---	---	---	T	93077212	C	T	93077212	3	4	218	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	12	9063										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	accagttatccctcctaaagCgctgccttcactagtcaaat	5	14	2	0	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		Somatic					p.A609T	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	15	131	---	---	---	---	T	113519322	C	T	113519322	3	4	218	1	0	0	0	0	1	0	0	0	12371	768	27	2	1547	2	PPP1R3A	7	113519322	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		113519322	45619341	13	9064										
SUPV3L1	6832	broad.mit.edu	37	chr10	70940179	70940179	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gttctggggcaagtttctgtCcttgccaccgcctcctcctc	9	16	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.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			Somatic				SUPV3L1_ENST00000483572.1_3'UTR	p.V44V	NM_003171.3	NP_003162.2	WXS	Illumina GAIIx	Phase_I	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	28	77	---	---	---	---	T	70940179	C	T	70940179	2	4	218	1	0	0	0	0	0	0	0	1	15399	842	30	2		2	SUPV3L1	10	70940179	Silent	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08		70940179	64594568	14	9065										
KCNK18	338567	broad.mit.edu	37	chr10	118969534	118969534	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gcccttattgtttttgcctaCatttcctgtgcagctgccat	7	12	0	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.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*		Somatic					p.Y293*	NM_181840.1	NP_862823.1	WXS	Illumina GAIIx	Phase_I	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	9	152	---	---	---	---	A	118969534	C	A	118969534	4	1	218	1	0	0	0	0	0	1	0	0	8065	489	17	3	889	3	KCNK18	10	118969534	Nonsense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	48029355	118969534	16565213	15	9066										
PDZD8	118987	broad.mit.edu	37	chr10	119078421	119078421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ctgtttttcttcccaaacacTactgcttaactcaagtgtgc	5	12	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.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		Somatic					p.S354G	NM_173791.3	NP_776152.1	WXS	Illumina GAIIx	Phase_I	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	22	38	---	---	---	---	C	119078421	T	C	119078421	3	2	218	1	0	0	0	0	1	0	0	0	11705	1522	53	2	2416	2	PDZD8	10	119078421	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08	108887	119078421	16456326	16	9067										
TNKS1BP1	85456	broad.mit.edu	37	chr11	57069307	57069307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ggctgaggggctcaggccagGaaagaggttgactttcagcc	16	9	2	3	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		Somatic				TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1649S	p.P1649S			WXS	Illumina GAIIx	Phase_I	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	15	34	---	---	---	---	A	57069307	G	A	57069307	3	1	218	1	0	0	0	0	1	0	0	0	16317	1174	41	2	256	2	TNKS1BP1	11	57069307	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		57069307	77937209	17	9068										
CHD4	1108	broad.mit.edu	37	chr12	6711128	6711128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ggatggaggtccaggcacctTtgaatcatcatcatcatcct	9	11	4	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		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.K146E|CHD4_ENST00000544484.1_Missense_Mutation_p.K143E|CHD4_ENST00000544040.1_Missense_Mutation_p.K139E	p.K146E			WXS	Illumina GAIIx	Phase_I	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	9	31	---	---	---	---	C	6711128	T	C	6711128	3	2	218	1	0	0	0	0	1	0	0	0	3327	1850	64	2	5450	2	CHD4	12	6711128	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		6711128	127140767	18	9069										
ADAMTS20	80070	broad.mit.edu	37	chr12	43821152	43821152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ccactgtggacaaggccctgGaccacattgctgtaactctg	10	13	1	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.chr12:43821152G>T	ENST00000389420.3	-	27	4065	c.4066C>A	c.(4066-4068)Cca>Aca	p.P1356T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T	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		Somatic				ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1356T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P474T	p.P1356T	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	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	12	41	---	---	---	---	T	43821152	G	T	43821152	3	4	218	1	0	0	0	0	1	0	0	0	266	1174	41	3	1717	3	ADAMTS20	12	43821152	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	37110024	43821152	90030743	19	9070										
PAN2	9924	broad.mit.edu	37	chr12	56720445	56720445	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gcaggccaatcagagagaagTgtgtcagtggtgagtgggac	17	6	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.chr12:56720445T>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			Somatic				PAN2_ENST00000440411.3_Silent_p.T406T|PAN2_ENST00000257931.5_Silent_p.T406T|PAN2_ENST00000548043.1_Silent_p.T406T	p.T406T	NM_001127460.2	NP_001120932	WXS	Illumina GAIIx	Phase_I	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	11	25	---	---	---	---	C	56720445	T	C	56720445	2	2	218	1	0	0	0	0	0	0	0	1	11414	1683	59	2		2	PAN2	12	56720445	Silent	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08	12899293	56720445	77131450	20	9071										
IL22	50616	broad.mit.edu	37	chr12	68642636	68642636	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tccagttctccaattgctttGatctctccactctctccaag	4	15	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.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		Somatic				IL22_ENST00000328087.4_Missense_Mutation_p.I161M	p.I161M			WXS	Illumina GAIIx	Phase_I	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	7	205	---	---	---	---	C	68642636	G	C	68642636	3	2	218	1	0	0	0	0	1	0	0	0	7672	1280	45	4	60	4	IL22	12	68642636	Missense_Mutation	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08	11922191	68642636	65209259	21	9072										
FOXA1	3169	broad.mit.edu	37	chr14	38061202	38061208	+	Frame_Shift_Del	DEL	GGCGGCG	GGCGGCG	-													0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	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_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|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)		AAGCGCTTCTGGCGGCGCAAGTAGCAG	0.71																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(781-789)cgccgccagfs		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		Somatic				FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RRQ228fs|FOXA1_ENST00000545425.2_5'UTR	p.RRQ261fs	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	218	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	22	9073										
ZFP106	64397	broad.mit.edu	37	chr15	42720231	42720231	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ctaacctttatgttgaaggtGaccacagtgccatttgccag	9	10	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.chr15:42720231G>T	ENST00000263805.4	-	12	5240	c.4914C>A	c.(4912-4914)gtC>gtA	p.V1638V	ZNF106_ENST00000565380.1_Silent_p.V866V|RNU6-188P_ENST00000364207.1_RNA|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			Somatic				ZNF106_ENST00000565380.1_Silent_p.V866V|ZNF106_ENST00000565611.1_Silent_p.V823V	p.V1638V	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	WXS	Illumina GAIIx	Phase_I					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	4	146	---	---	---	---	T	42720231	G	T	42720231	2	4	218	1	0	0	0	0	0	0	0	1	17634	1277	45	3		3	ZFP106	15	42720231	Silent	SNP	G	TCGA-J9-A8CP-01A-11D-A34U-08		42720231	59811161	23	9074										
USP8	9101	broad.mit.edu	37	chr15	50782019	50782019	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	ctcaacgagaacctttgacaAgagcacgaagtgaagaaatg	10	8	1	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.chr15:50782019A>G	ENST00000396444.3	+	13	2250	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	USP8_ENST00000433963.1_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G	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		Somatic				USP8_ENST00000396444.3_Missense_Mutation_p.R638G|USP8_ENST00000425032.3_Missense_Mutation_p.R532G|USP8_ENST00000307179.4_Missense_Mutation_p.R638G	p.R638G			WXS	Illumina GAIIx	Phase_I	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	10	23	---	---	---	---	G	50782019	A	G	50782019	3	3	218	1	0	0	0	0	1	0	0	0	17086	64	3	2	1958	2	USP8	15	50782019	Missense_Mutation	SNP	A	TCGA-J9-A8CP-01A-11D-A34U-08	8061788	50782019	51749373	24	9075										
MED13	9969	broad.mit.edu	37	chr17	60061727	60061727	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gcttatagacataagaaaaaTcctacaatataaagatggta	6	5	0	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.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.(2692-2694)gAt>gGt		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			Somatic					p.D898G	NM_005121.2	NP_005112.2	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			15	2769	-			898					B2RU05|O60334	Splice_Site	SNP	ENST00000397786.2	37	c.2693A>G	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	15	31	---	---	---	---	C	60061727	T	C	60061727	5	2	218	1	0	0	0	0	0	0	1	0	9430	1449	50	2	3895	2	MED13	17	60061727	Splice_Site	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		60061727	21133483	25	9076										
KIAA0195	9772	broad.mit.edu	37	chr17	73487841	73487841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	acctttccaatgagcaggagCgtggcgactggcctggcgag	15	11	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.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		Somatic				KIAA0195_ENST00000579208.1_Missense_Mutation_p.R137C|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R496C	p.R486C	NM_014738.4	NP_055553.3	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	T	73487841	C	T	73487841	3	4	218	1	0	0	0	0	1	0	0	0	8160	768	27	2	1506	2	KIAA0195	17	73487841	Missense_Mutation	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	13426114	73487841	7707369	26	9077										
LPHN1	22859	broad.mit.edu	37	chr19	14268133	14268133	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	agaggttgatgcacaggttcTtgtggatggtgttgcggtcg	17	5	1	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.chr19:14268133T>C	ENST00000340736.6	-	15	2987	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_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		Somatic				LPHN1_ENST00000361434.3_Missense_Mutation_p.K892R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.K897R	NM_001008701.2	NP_001008701.1	WXS	Illumina GAIIx	Phase_I	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	30	92	---	---	---	---	C	14268133	T	C	14268133	3	2	218	1	0	0	0	0	1	0	0	0	8915	1609	56	2	1774	2	LPHN1	19	14268133	Missense_Mutation	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		14268133	44860850	27	9078										
ITCH	83737	broad.mit.edu	37	chr20	33068460	33068460	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tctttaccattctataagcgTatcttgaacaaaccagttgg	6	9	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.chr20:33068460T>A	ENST00000262650.6	+	20	2134	c.1998T>A	c.(1996-1998)cgT>cgA	p.R666R	ITCH_ENST00000535650.1_Silent_p.R515R|ITCH_ENST00000374864.4_Silent_p.R625R|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			Somatic				ITCH_ENST00000262650.6_Silent_p.R666R|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R515R	p.R625R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	WXS	Illumina GAIIx	Phase_I	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	48	119	---	---	---	---	A	33068460	T	A	33068460	2	1	218	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	28	9079										
THOC5	8563	broad.mit.edu	37	chr22	29924168	29924168	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	gtgtgggtctccggcgcttcTggacaaaggaaagtgccaag	15	9	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.chr22:29924168T>C	ENST00000490103.1	-	11	1089		c.e11-2		THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	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			Somatic				THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	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	23	44	---	---	---	---	C	29924168	T	C	29924168	5	2	218	1	0	0	0	0	0	0	1	0	15865	1594	55	2	1126	2	THOC5	22	29924168	Splice_Site	SNP	T	TCGA-J9-A8CP-01A-11D-A34U-08		29924168	21380398	29	9080										
PLXNB2	23654	broad.mit.edu	37	chr22	50720454	50720454	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19169960474308	3.27717391304348	0	0.4	1	0	tctggctcctcaggcacagcCggggacaggaagacgacctt	13	13	2	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_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.P1058P			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			Somatic				PLXNB2_ENST00000359337.4_Silent_p.P1058P	p.P1058P			WXS	Illumina GAIIx	Phase_I	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	13	26	---	---	---	---	G	50720454	C	G	50720454	2	3	218	1	0	0	0	0	0	0	0	1	12124	639	23	4		4	PLXNB2	22	50720454	Silent	SNP	C	TCGA-J9-A8CP-01A-11D-A34U-08	20796286	50720454	584112	30	9081										
ZBTB40	9923	broad.mit.edu	37	chr1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cagctgagacctattatggaGtccctggaaacagccaagga	11	10	0	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.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		Somatic				ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	p.E373D	NM_001083621.1	NP_001077090.1	WXS	Illumina GAIIx	Phase_I	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	6	122	---	---	---	---	T	22828886	G	T	22828886	3	4	219	1	0	0	0	0	1	0	0	0	17539	1020	36	3	1133	3	ZBTB40	1	22828886	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		22828886	226421735	1	9082										
ARID1A	8289	broad.mit.edu	37	chr1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	gttcagcaaggtgtctagtcCagctcccatggagggtgggg	16	9	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.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		Somatic				ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R	p.P1756R	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	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	11	134	---	---	---	---	G	27105656	C	G	27105656	3	3	219	1	0	0	0	0	1	0	0	0	913	594	21	4	5345	4	ARID1A	1	27105656	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	4276770	27105656	222144965	2	9083										
NBPF10	100132406	broad.mit.edu	37	chr1	145302833	145302833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	acagctggctgaggggtgtaGactggcacagcaccttgtcc	14	11	0	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	NBPF10_ENST00000342960.5_Missense_Mutation_p.R424I|RP11-458D21.5_ENST00000468030.1_3'UTR|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		Somatic				NBPF10_ENST00000369339.3_Missense_Mutation_p.R153I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R424I	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	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	5	249	---	---	---	---	T	145302833	G	T	145302833	3	4	219	1	0	0	0	0	1	0	0	0	10193	942	33	3	1301	3	NBPF10	1	145302833	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	118197177	145302833	103947788	3	9084										
EPRS	2058	broad.mit.edu	37	chr1	220213574	220213574	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	ccttcttcaacggaaatgctGacatcgtctttcacgtgttc	7	12	4	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.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			Somatic					p.V28V	NM_004446.2	NP_004437.2	WXS	Illumina GAIIx	Phase_I	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	7	150	---	---	---	---	A	220213574	G	A	220213574	2	1	219	1	0	0	0	0	0	0	0	1	5191	1277	45	2		2	EPRS	1	220213574	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	74910741	220213574	29037047	4	9085										
NCL	4691	broad.mit.edu	37	chr2	232320221	232320221	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cgacccccgaagccaccttcAcccttaggtttggcccagtc	8	18	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.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_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			Somatic					p.G649G	NM_005381.2	NP_005372.2	WXS	Illumina GAIIx	Phase_I	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	39	413	---	---	---	---	G	232320221	A	G	232320221	2	3	219	1	0	0	0	0	0	0	0	1	10226	146	6	2		2	NCL	2	232320221	Silent	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		232320221	10879152	5	9086										
GPR171	29909	broad.mit.edu	37	chr3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	taagcaggaaatcggctgtaAgcaaattaattaagtagatg	10	4	0	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.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		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.L57R	NM_013308.3	NP_037440.3	WXS	Illumina GAIIx	Phase_I	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	4	124	---	---	---	---	C	150917004	A	C	150917004	3	2	219	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	6	9087										
MECOM	2122	broad.mit.edu	37	chr3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	aaggtactcacctcactgggGatgtcttgcaactcatctcc	8	13	5	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.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000433243.2_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		Somatic				MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y	p.S934Y	NM_001164000.1	NP_001157472.1	WXS	Illumina GAIIx	Phase_I	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	5	122	---	---	---	---	T	168807797	G	T	168807797	3	4	219	1	0	0	0	0	1	0	0	0	9422	1174	41	3	339	3	MECOM	3	168807797	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	17890793	168807797	29214633	7	9088										
SFRP2	6423	broad.mit.edu	37	chr4	154709577	154709577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cggtcgcactcaagcatgtcGggccaggggaagccgaaggc	16	12	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.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			Somatic					p.P137P	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	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	8	162	---	---	---	---	A	154709577	G	A	154709577	2	1	219	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	8	9089										
HSD17B4	3295	broad.mit.edu	37	chr5	118837734	118837734	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	aattttgtttaccctaacatAggttcttcatggagagcagt	8	7	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.chr5:118837734A>G	ENST00000256216.6	+	14	1342		c.e14-1		HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000513628.1_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			Somatic				HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site		NM_001199291.1	NP_001186220.1	WXS	Illumina GAIIx	Phase_I	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	9	143	---	---	---	---	G	118837734	A	G	118837734	5	3	219	1	0	0	0	0	0	0	1	0	7386	434	15	2	1262	2	HSD17B4	5	118837734	Splice_Site	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		118837734	62077526	9	9090										
FUCA2	2519	broad.mit.edu	37	chr6	143828561	143828561	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	ttttccttttgccaataccaCctaaggggaggaaaggaaag	10	8	0	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.chr6:143828561C>T	ENST00000002165.6	-	2	280	c.225G>A	c.(223-225)tgG>tgA	p.W75*	RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Splice_Site_p.W75*|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_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																																						ENST00000002165.6																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(223-225)tgG>tgA		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			Somatic				FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Splice_Site_p.W75*	p.W75*	NM_032020.4	NP_114409.2	WXS	Illumina GAIIx	Phase_I	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	2	280	-								E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Splice_Site	SNP	ENST00000002165.6	37	c.225G>A	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	8	117	---	---	---	---	T	143828561	C	T	143828561	5	4	219	1	0	0	0	0	0	0	1	0	6095	521	18	2	1202	2	FUCA2	6	143828561	Splice_Site	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		143828561	27286506	10	9091										
VPS13B	157680	broad.mit.edu	37	chr8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	aatatattcctactcgacatAcaagtgttactctcctcaaa	3	11	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.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_ENST00000355155.1_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_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		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A	p.T641A			WXS	Illumina GAIIx	Phase_I	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	4	239	---	---	---	---	G	100160146	A	G	100160146	3	3	219	1	0	0	0	0	1	0	0	0	17187	391	14	2	2013	2	VPS13B	8	100160146	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		100160146	46203876	11	9092										
SPATC1	375686	broad.mit.edu	37	chr8	145094892	145094892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	atggccttggcacccctggcCgagatgctaaccagcttgca	11	14	0	1	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			Somatic				SPATC1_ENST00000447830.2_Silent_p.A98A	p.A98A	NM_198572.2	NP_940974.2	WXS	Illumina GAIIx	Phase_I	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	4	129	---	---	---	---	T	145094892	C	T	145094892	2	4	219	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	12	9093										
PRPF19	27339	broad.mit.edu	37	chr11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	ggccaggatcccaggaatgcTggcactgtgcaacccctttg	12	13	0	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.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		Somatic					p.S220G	NM_014502.4	NP_055317.1	WXS	Illumina GAIIx	Phase_I	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	8	79	---	---	---	---	C	60668386	T	C	60668386	3	2	219	1	0	0	0	0	1	0	0	0	12564	1580	55	2	888	2	PRPF19	11	60668386	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		60668386	74338130	13	9094										
RELA	5970	broad.mit.edu	37	chr11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cctcctgatgtatacctttcTgcaccttgtcacacagtagg	7	13	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.chr11:65426194T>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		Somatic				RELA_ENST00000406246.3_Missense_Mutation_p.Q220R|RELA_ENST00000308639.9_Missense_Mutation_p.Q217R	p.Q220R			WXS	Illumina GAIIx	Phase_I	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	16	146	---	---	---	---	C	65426194	T	C	65426194	3	2	219	1	0	0	0	0	1	0	0	0	13216	1580	55	2	1016	2	RELA	11	65426194	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08	4757808	65426194	69580322	14	9095										
ERC1	23085	broad.mit.edu	37	chr12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	ctgacagaggagaactttcaGaggcttcatgctgagcatga	12	8	2	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.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_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_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		Somatic				ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H	p.Q268H			WXS	Illumina GAIIx	Phase_I	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	10	74	---	---	---	---	T	1192464	G	T	1192464	3	4	219	1	0	0	0	0	1	0	0	0	5210	933	33	3	810	3	ERC1	12	1192464	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		1192464	132659431	15	9096										
TFDP1	7027	broad.mit.edu	37	chr13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cagatttgagtatctgtttaAttttgacaacacatttgaaa	6	5	1	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.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)	Somatic				TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	p.N286S	NM_007111.4	NP_009042.1	WXS	Illumina GAIIx	Phase_I	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	6	128	---	---	---	---	G	114290866	A	G	114290866	3	3	219	1	0	0	0	0	1	0	0	0	15794	101	4	2	891	2	TFDP1	13	114290866	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		114290866	879012	16	9097										
AHNAK2	113146	broad.mit.edu	37	chr14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	gaggtccccctgcatggagaGgaggctcacgtcggcctcca	14	14	1	1	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		Somatic				AHNAK2_ENST00000557457.1_Intron	p.L712F	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	5	328	---	---	---	---	A	105419654	G	A	105419654	3	1	219	1	0	0	0	0	1	0	0	0	415	1000	35	2	15257	2	AHNAK2	14	105419654	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		105419654	1929886	17	9098										
MGA	23269	broad.mit.edu	37	chr15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-													0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	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_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.D2061fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs			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)caagatfs		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		Somatic				MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.D2061fs	p.D2061fs	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	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)	2022					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	219	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	18	9099										
NLRC5	84166	broad.mit.edu	37	chr16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	gttaacctctgtgaggacgaTgatgccagttccctgctgct	11	11	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		Somatic				NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E	p.D1479E			WXS	Illumina GAIIx	Phase_I	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	4	159	---	---	---	---	A	57101678	T	A	57101678	3	1	219	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		57101678	33253075	19	9100										
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383026	39383026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	agcacaccctgctgccagccCgcctgctgtgtgtccagctg	11	17	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			Somatic				KRTAP9-2_ENST00000455970.2_Silent_p.P40P	p.P40P	NM_031961.2	NP_114167.2	WXS	Illumina GAIIx	Phase_I	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	10	183	---	---	---	---	T	39383026	C	T	39383026	2	4	219	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		39383026	41812184	20	9101										
CBX4	8535	broad.mit.edu	37	chr17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	aagtaacggtgaggcagttcGcggtgacgtcggtgataatt	15	6	0	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.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		Somatic					p.A547V	NM_003655.2	NP_003646.2	WXS	Illumina GAIIx	Phase_I	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	7	141	---	---	---	---	A	77807801	G	A	77807801	3	1	219	1	0	0	0	0	1	0	0	0	2720	1087	38	2	46	2	CBX4	17	77807801	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	38424775	77807801	3387409	21	9102										
LILRA5	353514	broad.mit.edu	37	chr19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cctggaactgcccactggggGtcagctgtgagtccaaggtc	14	12	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.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_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		Somatic				LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I	p.T190I	NM_021250.2	NP_067073.1	WXS	Illumina GAIIx	Phase_I	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	4	71	---	---	---	---	A	54822827	G	A	54822827	3	1	219	1	0	0	0	0	1	0	0	0	8788	1261	44	2	428	2	LILRA5	19	54822827	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		54822827	4306156	22	9103										
ZMYND8	23613	broad.mit.edu	37	chr20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0869565217391304	2	1	1.78490566037736	4.4622641509434	1.11556603773585	1	1	0	cggtgacaaacccagcagtaGaaatcattccgtccatcctg	8	13	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.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_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		Somatic				ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L	p.F89L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	WXS	Illumina GAIIx	Phase_I	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	4	85	---	---	---	---	C	45927599	G	C	45927599	3	2	219	1	0	0	0	0	1	0	0	0	17708	933	33	4	3319	4	ZMYND8	20	45927599	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		45927599	17097921	23	9104										
NEGR1	257194	broad.mit.edu	37	chr1	72241872	72241872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tacctgatggggagatgtgtCgccaagaaatggaaggctct	14	7	1	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.chr1:72241872C>T	ENST00000357731.5	-	3	757	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q	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																																						ENST00000357731.5																			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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)				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	3	38	---	---	---	---	T	72241872	C	T	72241872	3	4	220	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	9105										
GNAT2	2780	broad.mit.edu	37	chr1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caaacacaaatttgacattcTgtgtatctgtagcacaggtc	7	9	2	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.chr1:110146052T>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		Somatic					p.Q330L	NM_005272.3	NP_005263.1	WXS	Illumina GAIIx	Phase_I	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	4	61	---	---	---	---	A	110146052	T	A	110146052	3	1	220	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	9106										
NBPF15	284565	broad.mit.edu	37	chr1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccttttccaggctctacggcGtgctgatggaagtggaagag	14	9	1	2	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		Somatic				NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	p.V594M	NM_001170755.1	NP_001164226.1	WXS	Illumina GAIIx	Phase_I	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	13	286	---	---	---	---	A	148594407	G	A	148594407	3	1	220	1	0	0	0	0	1	0	0	0	10195	1145	40	2	1838	2	NBPF15	1	148594407	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	38448355	148594407	100656214	3	9107										
VCAN	1462	broad.mit.edu	37	chr5	82833276	82833276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agttacatggaagcctgagaCttaccctgaaacatcagaac	8	10	1	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.chr5:82833276C>T	ENST00000265077.3	+	8	5019	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	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		Somatic				VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	p.T1485I	NM_004385.4	NP_004376.2	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	T	82833276	C	T	82833276	3	4	220	1	0	0	0	0	1	0	0	0	17135	565	20	2	4480	2	VCAN	5	82833276	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		82833276	98081984	4	9108										
FAM65B	9750	broad.mit.edu	37	chr6	24848254	24848254	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaattacactgaacttacaAagaaggagtggtctttgaag	10	5	1	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_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C|FAM65B_ENST00000510784.2_Splice_Site_p.F393C	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.(1075-1077)tTt>tGt		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			Somatic				FAM65B_ENST00000510784.2_Splice_Site_p.F393C|FAM65B_ENST00000540914.1_Splice_Site_p.F359C|FAM65B_ENST00000538035.1_Splice_Site_p.F388C|FAM65B_ENST00000378023.4_Splice_Site_p.F359C	p.F359C	NM_014722.2	NP_055537.2	WXS	Illumina GAIIx	Phase_I	Q9Y4F9	FA65B_HUMAN			12	1251	-			359					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Splice_Site	SNP	ENST00000259698.4	37	c.1076T>G	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	16	44	---	---	---	---	C	24848254	A	C	24848254	5	2	220	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	5	9109										
BRAF	673	broad.mit.edu	37	chr7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcgagatttcactgtagctAgaccaaaatcacctattttt	5	9	2	2	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		Somatic					p.L597R	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	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	5	92	---	---	---	---	C	140453145	A	C	140453145	3	2	220	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		140453145	18685518	6	9110										
RIMS2	9699	broad.mit.edu	37	chr8	104934014	104934014	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttatcaggacaactttcagTatgtagtcattacgtttact	6	8	3	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.chr8:104934014T>A	ENST00000436393.2	+	8	1771		c.e8+2		RIMS2_ENST00000507740.1_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_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)	Somatic				RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site		NM_014677.4	NP_055492.3	WXS	Illumina GAIIx	Phase_I	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	7	47	---	---	---	---	A	104934014	T	A	104934014	5	1	220	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		104934014	41430008	7	9111										
TUBB8	347688	broad.mit.edu	37	chr10	93834	93835	+	Frame_Shift_Del	DEL	TG	TG	-													0	0	1	0	NA	0	1	1	0	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_ENST00000447903.2_Frame_Shift_Del_p.T94fs|TUBB8_ENST00000332708.5_3'UTR	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)acafs		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		Somatic				TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR	p.T94fs			WXS	Illumina GAIIx	Phase_I	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	220	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	8	9112										
MYO3A	53904	broad.mit.edu	37	chr10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acgagtttcttctcagcagtGcctctcaggtaaaaatcagt	8	10	4	0	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		Somatic				MYO3A_ENST00000543632.1_Intron	p.C1477F	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	T	26465766	G	T	26465766	3	4	220	1	0	0	0	0	1	0	0	0	10076	1319	46	3	4544	3	MYO3A	10	26465766	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	26371932	26465766	109068981	9	9113										
PDHX	8050	broad.mit.edu	37	chr11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacattcactgaaatccccgCcagcaatattcgaagagtta	6	12	1	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.chr11:34991708C>T	ENST00000227868.4	+	7	923	c.839C>T	c.(838-840)gCc>gTc	p.A280V	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.A265V			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		Somatic				PDHX_ENST00000227868.4_Missense_Mutation_p.A280V|PDHX_ENST00000430469.2_Intron	p.A265V	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	WXS	Illumina GAIIx	Phase_I	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	12	44	---	---	---	---	T	34991708	C	T	34991708	3	4	220	1	0	0	0	0	1	0	0	0	11667	739	26	2	984	2	PDHX	11	34991708	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		34991708	100014808	10	9114										
OR4Q3	441669	broad.mit.edu	37	chr14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcttgcctgctggtgtgggGgttttatccactctatcatg	11	9	3	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.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		Somatic					p.G153S	NM_172194.1	NP_751944.1	WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	A	20216043	G	A	20216043	3	1	220	1	0	0	0	0	1	0	0	0	11081	1232	43	2	459	2	OR4Q3	14	20216043	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		20216043	87133497	11	9115										
BAHD1	22893	broad.mit.edu	37	chr15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgcctgacctgcccaagcccCccagcccggccccatccagt	8	23	0	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.chr15:40750961C>T	ENST00000416165.1	+	2	369	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000561234.1_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		Somatic				BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S	p.P100S			WXS	Illumina GAIIx	Phase_I	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	9	73	---	---	---	---	T	40750961	C	T	40750961	3	4	220	1	0	0	0	0	1	0	0	0	1297	623	22	2	300	2	BAHD1	15	40750961	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		40750961	61780431	12	9116										
SLC30A4	7782	broad.mit.edu	37	chr15	45777429	45777429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctgtaactctgaagctgaaTagtacatctatacatgccaa	6	10	2	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.chr15:45777429T>C	ENST00000261867.4	-	8	1536	c.1222A>G	c.(1222-1224)Att>Gtt	p.I408V	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_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		Somatic				RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	p.I408V	NM_013309.4	NP_037441.2	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	C	45777429	T	C	45777429	3	2	220	1	0	0	0	0	1	0	0	0	14557	1406	49	2	71	2	SLC30A4	15	45777429	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	5026468	45777429	56753963	13	9117										
ESF1	51575	broad.mit.edu	37	chr20	13695683	13695683	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtaagttcttgttctttccgTtctctttgccgggccttctc	8	12	4	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.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			Somatic					p.E798E	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	WXS	Illumina GAIIx	Phase_I	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	29	121	---	---	---	---	C	13695683	T	C	13695683	2	2	220	1	0	0	0	0	0	0	0	1	5251	1722	60	2		2	ESF1	20	13695683	Silent	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08		13695683	49329837	14	9118										
SPATA21	374955	broad.mit.edu	37	chr1	16727315	16727315	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	ttgtagggaagcttctgcaaCcgcagccggcctacggccgc	13	14	1	0			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			Somatic				SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R335R	p.R358R	NM_198546.1	NP_940948.1	WXS	Illumina GAIIx	Phase_I	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	8	180	---	---	---	---	A	16727315	C	A	16727315	2	1	221	1	0	0	0	0	0	0	0	1	15006	494	18	3		3	SPATA21	1	16727315	Silent	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08		16727315	232523306	1	9119										
LRP1B	53353	broad.mit.edu	37	chr2	141092024	141092024	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	gtgtgtcagaaatcatacctGtgggtctctgtaagttcttt	10	7	4	1			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)	Somatic					p.T4074K	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	T	141092024	G	T	141092024	3	4	221	1	0	0	0	0	1	0	0	0	8955	1377	48	3	1630	3	LRP1B	2	141092024	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		141092024	102107349	2	9120										
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216864	26216864	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	caggagctgacttagctggtTcaggcatgctgtcagaaaac	12	9	2	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		Somatic					p.E3V	NM_003518.3	NP_003509.1	WXS	Illumina GAIIx	Phase_I	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	7	75	---	---	---	---	A	26216864	T	A	26216864	3	1	221	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	3	9121										
SERPINB3	6317	broad.mit.edu	37	chr18	61328408	61328408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	NA	NA	NA	1	1	0	ttttctgaactgttggaacaGgtcgaacatgaacttggtgt	11	6	1	2	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		Somatic				SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA	p.L15M	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	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	8	153	---	---	---	---	T	61328408	G	T	61328408	3	4	221	1	0	0	0	0	1	0	0	0	14102	991	35	1	1157	1	SERPINB3	18	61328408	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		61328408	16748840	4	9122										
C1orf87	127795	broad.mit.edu	37	chr1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	cggaatctgcgcaaggcctgGtcgattttctgagggctcag	14	10	3	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.chr1:60456420G>C	ENST00000371201.3	-	12	1673	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E	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		Somatic				C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000486478.1_5'UTR	p.D522E	NM_152377.2	NP_689590.1	WXS	Illumina GAIIx	Phase_I	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	50	158	---	---	---	---	C	60456420	G	C	60456420	3	2	222	1	0	0	0	0	1	0	0	0	2064	1252	44	4	78	4	C1orf87	1	60456420	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		60456420	188794201	1	9123										
UBQLN4	56893	broad.mit.edu	37	chr1	156011291	156011292	+	Frame_Shift_Ins	INS	-	-	A													0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	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)ggafs		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		Somatic					p.G546fs	NM_020131.3	NP_064516.2	WXS	Illumina GAIIx	Phase_I	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	222	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	95554871	156011291	93239330	2	9124										
KIAA1614	57710	broad.mit.edu	37	chr1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	tcctgaccatgacagaggtcCgctgctggggcccagctctt	12	14	1	3	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		Somatic					p.P201L	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	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	6	105	---	---	---	---	T	180885841	C	T	180885841	3	4	222	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	3	9125										
TATDN3	128387	broad.mit.edu	37	chr1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	aacaattgcctttaacttctAtatgcttagaaacagattca	4	8	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.chr1:212985626A>G	ENST00000366974.4	+	9	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V	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		Somatic				TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V	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	WXS	Illumina GAIIx	Phase_I	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	11	21	---	---	---	---	G	212985626	A	G	212985626	3	3	222	1	0	0	0	0	1	0	0	0	15590	449	16	2	692	2	TATDN3	1	212985626	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	32099785	212985626	36264995	4	9126										
ETAA1	54465	broad.mit.edu	37	chr2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	atttgactatgtattctaagAtctcaaactgtcagataaat	5	6	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.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		Somatic				ETAA1_ENST00000462772.1_Intron	p.I742L	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	C	67632038	A	C	67632038	3	2	222	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	5	9127										
SCN5A	6331	broad.mit.edu	37	chr3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	tcatgtagatcttccctgcgGacctgagggtctgggggagc	15	10	3	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_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000413689.1_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		Somatic				SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_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	WXS	Illumina GAIIx	Phase_I	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	7	33	---	---	---	---	T	38647629	G	T	38647629	3	4	222	1	0	0	0	0	1	0	0	0	13922	1174	41	3	4975	3	SCN5A	3	38647629	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		38647629	159374801	6	9128										
STAG1	10274	broad.mit.edu	37	chr3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	cgtttctgaagtagtaactcCaacctttcattggctctctt	6	11	3	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.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		Somatic				STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F	p.L267F	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	G	136221497	C	G	136221497	3	3	222	1	0	0	0	0	1	0	0	0	15241	593	21	4	3083	4	STAG1	3	136221497	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	97573868	136221497	61800933	7	9129										
GPR98	84059	broad.mit.edu	37	chr5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ctgcctatgaggtgcctccaCccttgaacgttcttcaagtt	8	13	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.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		Somatic					p.P3933S	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	6	35	---	---	---	---	T	90052835	C	T	90052835	3	4	222	1	0	0	0	0	1	0	0	0	6721	507	18	2	12023	2	GPR98	5	90052835	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		90052835	90862425	8	9130										
PCDHB1	29930	broad.mit.edu	37	chr5	140432441	140432441	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	tcctatatcttgactgttcgAgaaaacaacagtcctgcggt	8	10	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.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	29930				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			Somatic					p.R462R	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	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	17	31	---	---	---	---	C	140432441	A	C	140432441	2	2	222	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	9	9131										
PHIP	55023	broad.mit.edu	37	chr6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ctctaccttgtcatatttgcTactggacccaaagccaaaaa	5	12	2	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.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		Somatic					p.S547G	NM_017934.5	NP_060404	WXS	Illumina GAIIx	Phase_I	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	6	14	---	---	---	---	C	79713461	T	C	79713461	3	2	222	1	0	0	0	0	1	0	0	0	11842	1522	53	2	3926	2	PHIP	6	79713461	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		79713461	91401606	10	9132										
SEMA3E	9723	broad.mit.edu	37	chr7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	attaccaacaaactgttgtcCaaagcactgctgagctgcat	7	11	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.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		Somatic				SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	p.G574R	NM_012431.2	NP_036563.1	WXS	Illumina GAIIx	Phase_I	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	7	9	---	---	---	---	G	83016314	C	G	83016314	3	3	222	1	0	0	0	0	1	0	0	0	14028	603	21	4	619	4	SEMA3E	7	83016314	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		83016314	76122349	11	9133										
SPAM1	6677	broad.mit.edu	37	chr7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	aattgggaaaattacttcggCcaaatcacttgtggggttat	10	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.chr7:123594258C>A	ENST00000439500.1	+	4	1247	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000340011.5_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	6677				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		Somatic				SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T	p.P212T	NM_003117.4	NP_003108.2	WXS	Illumina GAIIx	Phase_I	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	4	26	---	---	---	---	A	123594258	C	A	123594258	3	1	222	1	0	0	0	0	1	0	0	0	14986	739	26	3	636	3	SPAM1	7	123594258	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	40577944	123594258	35544405	12	9134										
RP1	6101	broad.mit.edu	37	chr8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	atacacaagacctcagcggtCagacaaatgaaatctttaaa	6	9	3	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		Somatic					p.Q2057E	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	10	34	---	---	---	---	G	55542611	C	G	55542611	3	3	222	1	0	0	0	0	1	0	0	0	13532	827	29	4	6179	4	RP1	8	55542611	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		55542611	90821411	13	9135										
ZWINT	11130	broad.mit.edu	37	chr10	58118485	58118485	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	agctggaggaaggtctgataCctacaaagaggaggtaagtg	15	5	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.chr10:58118485C>A	ENST00000373944.3	-	7	662	c.624G>T	c.(622-624)agG>agT	p.R208S	ZWINT_ENST00000318387.2_Splice_Site_p.R88S|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000361148.6_Intron			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.(622-624)agG>agT		ZW10 interacting kinetochore protein							81	75	77					10																	58118485		2203	4300	6503	SO:0001630	splice_region_variant	11130				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			Somatic				ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88S	p.R208S			WXS	Illumina GAIIx	Phase_I	O95229	ZWINT_HUMAN			7	662	-			208					A6NNV6|Q0D2I3|Q9BWD0	Splice_Site	SNP	ENST00000373944.3	37	c.624G>T	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	15	25	---	---	---	---	A	58118485	C	A	58118485	5	1	222	1	0	0	0	0	0	0	1	0	18246	521	18	3	217	3	ZWINT	10	58118485	Splice_Site	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		58118485	77416262	14	9136										
PTEN	5728	broad.mit.edu	37	chr10	89711886	89711887	+	Frame_Shift_Ins	INS	-	-	C													0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	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.(505-507)cccfs		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)	Somatic					p.P169fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	222	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	15	9137										
IFIT2	3433	broad.mit.edu	37	chr10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	tgcttaaaaaggctttagaaTacataccaaacaatgcctac	5	9	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.chr10:91066539T>A	ENST00000371826.3	+	2	995	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_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		Somatic				LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	p.Y276N	NM_001547.4	NP_001538.4	WXS	Illumina GAIIx	Phase_I	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	12	45	---	---	---	---	A	91066539	T	A	91066539	3	1	222	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	16	9138										
C10orf118	55088	broad.mit.edu	37	chr10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ctttttctgaacaaatgtctAcgaagagctcctgatgcttc	7	10	2	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.chr10:115917401A>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		Somatic					p.V224A	NM_018017.2	NP_060487.2	WXS	Illumina GAIIx	Phase_I	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	7	10	---	---	---	---	G	115917401	A	G	115917401	3	3	222	1	0	0	0	0	1	0	0	0	1587	391	14	2	2081	2	C10orf118	10	115917401	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	24850862	115917401	19617346	17	9139										
C11orf57	55216	broad.mit.edu	37	chr11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	actggaaaaacagatggaagAtgcttaccgggggaccaaaa	12	7	0	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.chr11:111948994A>G	ENST00000280352.9	+	3	761	c.125A>G	c.(124-126)gAt>gGt	p.D42G	C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000532163.1_Missense_Mutation_p.D13G	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		Somatic				C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G	p.D13G			WXS	Illumina GAIIx	Phase_I	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	6	16	---	---	---	---	G	111948994	A	G	111948994	3	3	222	1	0	0	0	0	1	0	0	0	1650	333	12	2	131	2	C11orf57	11	111948994	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08		111948994	23057522	18	9140										
OASL	8638	broad.mit.edu	37	chr12	121476763	121476764	+	Frame_Shift_Ins	INS	-	-	A													0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	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)atgfs		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		Somatic				OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs	p.M4fs	NM_003733.3	NP_003724.1	WXS	Illumina GAIIx	Phase_I	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	222	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	19	9141										
PSMC6	5706	broad.mit.edu	37	chr14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	accgcaagaagttgcttgaaCacaaggagatcgacggccgt	12	10	0	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.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		Somatic				PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y	p.H33Y			WXS	Illumina GAIIx	Phase_I	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	16	29	---	---	---	---	T	53173992	C	T	53173992	3	4	222	1	0	0	0	0	1	0	0	0	12691	478	17	2	99	2	PSMC6	14	53173992	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		53173992	54175548	20	9142										
PLA2G4F	255189	broad.mit.edu	37	chr15	42439840	42439840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ttaccaggtagacccagagaCcccactcaggtaggtcacag	10	13	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.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		Somatic				PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I	p.V396I	NM_213600.3	NP_998765.3	WXS	Illumina GAIIx	Phase_I	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	8	188	---	---	---	---	T	42439840	C	T	42439840	3	4	222	1	0	0	0	0	1	0	0	0	12006	507	18	2	1405	2	PLA2G4F	15	42439840	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		42439840	60091552	21	9143										
DUOX1	53905	broad.mit.edu	37	chr15	45433155	45433155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	tggctagagctgctccctggGggactcctggagagccaccg	15	13	0	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.chr15:45433155G>A	ENST00000321429.4	+	14	1859	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_ENST00000561166.1_Silent_p.G130G|DUOX1_ENST00000389037.3_Silent_p.G484G	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			Somatic				DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G	p.G484G	NM_017434.3	NP_059130.2	WXS	Illumina GAIIx	Phase_I	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	33	50	---	---	---	---	A	45433155	G	A	45433155	2	1	222	1	0	0	0	0	0	0	0	1	4800	1219	43	2		2	DUOX1	15	45433155	Silent	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	2993315	45433155	57098237	22	9144										
MYO9A	4649	broad.mit.edu	37	chr15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	aaattgcacatggcgctgtaTcatcatgtccttaggaagca	9	9	2	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.chr15:72244228T>C	ENST00000356056.5	-	15	2664	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000563542.1_5'UTR	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		Somatic				MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR	p.D731G	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	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	20	37	---	---	---	---	C	72244228	T	C	72244228	3	2	222	1	0	0	0	0	1	0	0	0	10084	1435	50	2	5566	2	MYO9A	15	72244228	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08	26811073	72244228	30287164	23	9145										
PDPR	55066	broad.mit.edu	37	chr16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	atctcctcaacgtgcacgacCtggtgggggccatgcatgtt	12	12	2	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.chr16:70162938C>A	ENST00000288050.4	+	6	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	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		Somatic				PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M	p.L174M	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	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	37	241	---	---	---	---	A	70162938	C	A	70162938	3	1	222	1	0	0	0	0	1	0	0	0	11689	680	24	1	534	1	PDPR	16	70162938	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		70162938	20191815	24	9146										
DNAH9	1770	broad.mit.edu	37	chr17	11687706	11687706	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ctcactcagcatctgaagctCggaaacttcccggcgtccct	8	16	3	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					ENST00000262442.4																			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			Somatic				DNAH9_ENST00000454412.2_Silent_p.L2637L	p.L2637L	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				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	7	140	---	---	---	---	T	11687706	C	T	11687706	2	4	222	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	25	9147										
SMOX	54498	broad.mit.edu	37	chr20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ttgtgaatccagtggtgacaGtgcggatgaccctctcagtc	12	10	1	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.chr20:4155731G>T	ENST00000305958.4	+	2	254	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_ENST00000346595.2_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000484515.1_3'UTR	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		Somatic				SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I	p.S10I	NM_175839.2	NP_787033.1	WXS	Illumina GAIIx	Phase_I	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	38	134	---	---	---	---	T	4155731	G	T	4155731	3	4	222	1	0	0	0	0	1	0	0	0	14803	1029	36	3	31	3	SMOX	20	4155731	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		4155731	58869789	26	9148										
GRPR	2925	broad.mit.edu	37	chrX	16142274	16142274	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	actttgatcaagatcttctgTacagtcaagtccatgcgaaa	7	9	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.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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	12	57	---	---	---	---	C	16142274	T	C	16142274	2	2	222	1	0	0	0	0	0	0	0	1	6808	1644	57	2		2	GRPR	23	16142274	Silent	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		16142274	139128286	27	9149										
ZMYM3	9203	broad.mit.edu	37	chrX	70462164	70462164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	ctcagctgtctgcagcccaaAaaacttagtgttgaagaaca	8	10	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.chrX:70462164A>C	ENST00000353904.2	-	23	3845	c.3658T>G	c.(3658-3660)Ttt>Gtt	p.F1220V	ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373998.1_Missense_Mutation_p.F1208V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V	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		Somatic				ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000489332.1_5'UTR	p.F1208V	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	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	11	6	---	---	---	---	C	70462164	A	C	70462164	3	2	222	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	28	9150										
KLHL4	56062	broad.mit.edu	37	chrX	86919798	86919798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.505494505494505	1.11208791208791	0	1	1	0	gtgattcatggtcaactgtgGcacctctgagtgttcctcga	11	10	3	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	56062					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		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	p.A654P	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	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	10	7	---	---	---	---	C	86919798	G	C	86919798	3	2	222	1	0	0	0	0	1	0	0	0	8391	1203	42	4	1998	4	KLHL4	23	86919798	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	16457634	86919798	68350762	29	9151										
HNRNPR	10236	broad.mit.edu	37	chr1	23637361	23637361	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	cctcttcctcttactgcataGccatcatcatagccgtagta	5	14	4	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.chr1:23637361G>C	ENST00000374612.1	-	11	1611	c.1488C>G	c.(1486-1488)ggC>ggG	p.G496G	HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000427764.2_Silent_p.G458G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000478691.1_Silent_p.G398G	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			Somatic				HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Silent_p.G496G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000427764.2_Silent_p.G458G	p.G398G	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	WXS	Illumina GAIIx	Phase_I	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	27	67	---	---	---	---	C	23637361	G	C	23637361	2	2	223	1	0	0	0	0	0	0	0	1	7272	958	34	4		4	HNRNPR	1	23637361	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		23637361	225613260	1	9152										
ZEB2	9839	broad.mit.edu	37	chr2	145157536	145157536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ctagtgccactaaacccgtgTgtagccataagaactttata	7	10	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.chr2:145157536T>C	ENST00000558170.2	-	8	2402	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	ZEB2_ENST00000303660.4_Silent_p.T406T|ZEB2_ENST00000539609.3_Silent_p.T382T|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			Somatic				ZEB2_ENST00000539609.3_Silent_p.T382T|ZEB2_ENST00000409487.3_Silent_p.T406T|ZEB2_ENST00000303660.4_Silent_p.T406T	p.T406T	NM_014795.3	NP_055610.1	WXS	Illumina GAIIx	Phase_I	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	5	87	---	---	---	---	C	145157536	T	C	145157536	2	2	223	1	0	0	0	0	0	0	0	1	17621	1683	59	2		2	ZEB2	2	145157536	Silent	SNP	T	TCGA-KC-A7F3-01A-21D-A33T-08		145157536	98041837	2	9153										
FIGN	55137	broad.mit.edu	37	chr2	164466569	164466569	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tcctcattcacttgagaggaGagaagcatgtcaatgtcact	9	9	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.chr2:164466569G>C	ENST00000333129.3	-	3	2087	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	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			Somatic				FIGN_ENST00000409634.1_Intron	p.L591L	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	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	7	57	---	---	---	---	C	164466569	G	C	164466569	2	2	223	1	0	0	0	0	0	0	0	1	5891	929	33	4		4	FIGN	2	164466569	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	19309033	164466569	78732804	3	9154										
NOSTRIN	115677	broad.mit.edu	37	chr2	169716116	169716116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	acctcaacccagccatccttGtagtaattccatcttcaggt	5	14	3	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.chr2:169716116G>T	ENST00000317647.7	+	13	1377	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F	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		Somatic				NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.C383F	p.C440F			WXS	Illumina GAIIx	Phase_I	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	4	98	---	---	---	---	T	169716116	G	T	169716116	3	4	223	1	0	0	0	0	1	0	0	0	10546	1377	48	3	1373	3	NOSTRIN	2	169716116	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	5249547	169716116	73483257	4	9155										
NCKAP1	10787	broad.mit.edu	37	chr2	183847593	183847593	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ttctttggcatgttatctgcAtgacgaagtagccagatgat	10	7	2	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.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																																						ENST00000361354.4																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1162-1164)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			Somatic				NCKAP1_ENST00000360982.2_Silent_p.H394H	p.H388H	NM_013436.3	NP_038464.1	WXS	Illumina GAIIx	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		12	1536	-								O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1164T>C	CCDS2287.1																																																																																				0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		12	56	12	56	---	---	---	---	G	183847593	A	G	183847593	2	3	223	1	0	0	0	0	0	0	0	1	10221	214	8	2		2	NCKAP1	2	183847593	Silent	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08	14131477	183847593	59351780	5	9156										
BRPF1	7862	broad.mit.edu	37	chr3	9780727	9780727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gctggacgaggaagtagagtAtgacatggacgaggaggact	17	5	0	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_ENST00000383829.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_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		Somatic				BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000457855.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C	p.Y215C	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	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	8	43	---	---	---	---	G	9780727	A	G	9780727	3	3	223	1	0	0	0	0	1	0	0	0	1520	449	16	2	650	2	BRPF1	3	9780727	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08		9780727	188241703	6	9157										
RPL15	6138	broad.mit.edu	37	chr3	23960791	23960791	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gttatcctcattgatccattCcataaagctatcagaagaaa	5	9	2	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.chr3:23960791C>T	ENST00000307839.5	+	4	1053	c.414C>T	c.(412-414)ttC>ttT	p.F138F	NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank|RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000354811.5_Silent_p.F138F|RPL15_ENST00000435882.1_Silent_p.F138F|NKIRAS1_ENST00000415901.2_5'Flank	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			Somatic				RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|RPL15_ENST00000354811.5_Silent_p.F138F|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Silent_p.F138F	p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	WXS	Illumina GAIIx	Phase_I	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	10	48	---	---	---	---	T	23960791	C	T	23960791	2	4	223	1	0	0	0	0	0	0	0	1	13562	854	30	2		2	RPL15	3	23960791	Silent	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	14180064	23960791	174061639	7	9158										
PCDH18	54510	broad.mit.edu	37	chr4	138452902	138452902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	aaagctgcagatgctctgtgGgtagagtgatcacatcaaac	11	8	3	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.chr4:138452902G>A	ENST00000344876.4	-	1	727	c.341C>T	c.(340-342)cCc>cTc	p.P114L	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|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		Somatic				PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron	p.P114L	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	4	136	---	---	---	---	A	138452902	G	A	138452902	3	1	223	1	0	0	0	0	1	0	0	0	11513	1232	43	2	3082	2	PCDH18	4	138452902	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		138452902	52701374	8	9159										
KIAA1712	80817	broad.mit.edu	37	chr4	175225405	175225405	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	cctttttttttagattccatCacaacaaagaaagaaaatca	3	8	2	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.chr4:175225405C>T	ENST00000503780.1	+	6	806	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_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		Somatic				CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_Missense_Mutation_p.S131L	p.S131L	NM_001040157.2	NP_001035247.1	WXS	Illumina GAIIx	Phase_I	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	9	51	---	---	---	---	T	175225405	C	T	175225405	3	4	223	1	0	0	0	0	1	0	0	0	8253	838	29	2	406	2	KIAA1712	4	175225405	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	36772503	175225405	15928871	9	9160										
ANKHD1	54882	broad.mit.edu	37	chr5	139905804	139905804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	atgtctttagcccaacaaaaGgcagataaaaataaaataaa	5	6	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.chr5:139905804G>A	ENST00000360839.2	+	26	4870	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	ANKHD1_ENST00000544120.1_5'UTR|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Silent_p.K1572K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K	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			Somatic				ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|ANKHD1_ENST00000544120.1_5'UTR|ANKHD1_ENST00000360839.2_Silent_p.K1572K	p.K1572K	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			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	4	190	---	---	---	---	A	139905804	G	A	139905804	2	1	223	1	0	0	0	0	0	0	0	1	628	991	35	2		2	ANKHD1	5	139905804	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		139905804	41009456	10	9161										
TAAR6	319100	broad.mit.edu	37	chr6	132891765	132891765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gagctgctggtattttgggaGgagtttttgtactttccaca	12	6	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.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		Somatic					p.R102K	NM_175067.1	NP_778237.1	WXS	Illumina GAIIx	Phase_I	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	23	92	---	---	---	---	A	132891765	G	A	132891765	3	1	223	1	0	0	0	0	1	0	0	0	15489	1000	35	2	307	2	TAAR6	6	132891765	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		132891765	38223302	11	9162										
HECA	51696	broad.mit.edu	37	chr6	139487664	139487664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	aaagaagggctacgacctggCcttccgcttctgctcttgcc	10	14	2	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.chr6:139487664C>T	ENST00000367658.2	+	2	800	c.515C>T	c.(514-516)gCc>gTc	p.A172V	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_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		Somatic				RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	p.A172V	NM_016217.2	NP_057301.1	WXS	Illumina GAIIx	Phase_I	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	22	70	---	---	---	---	T	139487664	C	T	139487664	3	4	223	1	0	0	0	0	1	0	0	0	7038	739	26	2	521	2	HECA	6	139487664	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	6595899	139487664	31627403	12	9163										
MLLT4	4301	broad.mit.edu	37	chr6	168352505	168352505	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tcattcgggagctgcagcctCagcagcagccccgcacgatc	11	16	2	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.chr6:168352505C>T	ENST00000447894.2	+	29	4450	c.4450C>T	c.(4450-4452)Cag>Tag	p.Q1484*	MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Q1484*|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*		Somatic				MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*	p.Q1484*			WXS	Illumina GAIIx	Phase_I	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	19	106	---	---	---	---	T	168352505	C	T	168352505	4	4	223	1	0	0	0	0	0	1	0	0	9629	827	29	2	4564	2	MLLT4	6	168352505	Nonsense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	28864841	168352505	2762562	13	9164										
RADIL	55698	broad.mit.edu	37	chr7	4874799	4874799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tcgggggctgagaggctgatGctgggcttgctggagggggt	22	6	0	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.chr7:4874799G>A	ENST00000399583.3	-	4	1042	c.855C>T	c.(853-855)agC>agT	p.S285S	RADIL_ENST00000538469.1_Silent_p.S45S|RADIL_ENST00000536091.1_Silent_p.S285S	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			Somatic				RADIL_ENST00000538469.1_Silent_p.S45S|RADIL_ENST00000536091.1_Silent_p.S285S	p.S285S	NM_018059.4	NP_060529.4	WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	A	4874799	G	A	4874799	2	1	223	1	0	0	0	0	0	0	0	1	12997	1310	46	2		2	RADIL	7	4874799	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		4874799	154263864	14	9165										
FAM188B	84182	broad.mit.edu	37	chr7	30818114	30818114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ctgacctcagcataaacaacAgaaatgatcttcgaaaggtt	7	9	2	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		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR	p.R44G	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	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	17	61	---	---	---	---	G	30818114	A	G	30818114	3	3	223	1	0	0	0	0	1	0	0	0	5515	180	7	2	136	2	FAM188B	7	30818114	Missense_Mutation	SNP	A	TCGA-KC-A7F3-01A-21D-A33T-08	25943315	30818114	128320549	15	9166										
PAX4	5078	broad.mit.edu	37	chr7	127253123	127253123	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tctcttgccgacgccatttgGctcttctgttggaaaaccag	9	12	3	0	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_ENST00000463946.1_Missense_Mutation_p.A213G|PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G	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		Somatic				PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G	p.A215G	NM_006193.2	NP_006184.2	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	C	127253123	G	C	127253123	3	2	223	1	0	0	0	0	1	0	0	0	11481	1203	42	4	403	4	PAX4	7	127253123	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	96435009	127253123	31885540	16	9167										
VPS28	51160	broad.mit.edu	37	chr8	145649503	145649503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ggtctccatcagctctcgcaGgtcgggctggatctgagaca	13	12	4	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.chr8:145649503G>A	ENST00000526054.1	-	8	506	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L|VPS28_ENST00000292510.4_Silent_p.L157L			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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	54	---	---	---	---	A	145649503	G	A	145649503	2	1	223	1	0	0	0	0	0	0	0	1	17196	991	35	2		2	VPS28	8	145649503	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		145649503	714519	17	9168										
FLJ46321	389763	broad.mit.edu	37	chr9	84606322	84606322	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	cggaagattgcactgtgactCagtctaaatcaagtctcacc	8	11	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		Somatic					p.Q313E	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					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	82	169	---	---	---	---	G	84606322	C	G	84606322	3	3	223	1	0	0	0	0	1	0	0	0	5932	827	29	4	951	4	FLJ46321	9	84606322	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08		84606322	56607109	18	9169										
FAM107B	83641	broad.mit.edu	37	chr10	14563937	14563938	+	Frame_Shift_Ins	INS	-	-	G													0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	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_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000181796.2_Frame_Shift_Ins_p.E245fs|FAM107B_ENST00000378458.2_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)gaafs		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		Somatic				FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378470.1_Frame_Shift_Ins_p.E70fs	p.E245fs	NM_031453.2	NP_113641.2	WXS	Illumina GAIIx	Phase_I	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	223	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	19	9170										
TMEM72	643236	broad.mit.edu	37	chr10	45430339	45430339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	atcctgaaggggactaagaaGcccagtgccctccagccccc	10	16	0	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.chr10:45430339G>T	ENST00000544540.1	+	4	715	c.231G>T	c.(229-231)aaG>aaT	p.K77N	TMEM72-AS1_ENST00000450287.2_RNA|RP11-285G1.9_ENST00000425541.2_lincRNA			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		Somatic				TMEM72-AS1_ENST00000450287.2_RNA	p.K77N			WXS	Illumina GAIIx	Phase_I	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	5	171	---	---	---	---	T	45430339	G	T	45430339	3	4	223	1	0	0	0	0	1	0	0	0	16198	962	34	3	603	3	TMEM72	10	45430339	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	30866402	45430339	90104408	20	9171										
NLRP14	338323	broad.mit.edu	37	chr11	7060028	7060028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	aatattatccaggagagaaaGcctggagtgtgtctctcaaa	10	7	2	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.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		Somatic					p.A71T	NM_176822.3	NP_789792.1	WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	A	7060028	G	A	7060028	3	1	223	1	0	0	0	0	1	0	0	0	10476	971	34	2	213	2	NLRP14	11	7060028	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		7060028	127946488	21	9172										
FGF4	2249	broad.mit.edu	37	chr11	69588217	69588217	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gttgtagttgttgggaaggaGaatctccttgaacgtgcact	13	6	1	2	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	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_5'UTR	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		Somatic				FGF4_ENST00000538040.1_5'UTR	p.L161I	NM_002007.2	NP_001998.1	WXS	Illumina GAIIx	Phase_I	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	5	116	---	---	---	---	T	69588217	G	T	69588217	3	4	223	1	0	0	0	0	1	0	0	0	5854	942	33	3	143	3	FGF4	11	69588217	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	62528189	69588217	65418299	22	9173										
GPR83	10888	broad.mit.edu	37	chr11	94113908	94113908	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gtcagctggctcagggaagtCtggcaggcagagggagcgca	18	9	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.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		Somatic				GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	p.D227Y	NM_016540.3	NP_057624.3	WXS	Illumina GAIIx	Phase_I	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	12	36	---	---	---	---	A	94113908	C	A	94113908	3	1	223	1	0	0	0	0	1	0	0	0	6713	913	32	3	596	3	GPR83	11	94113908	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08	24525691	94113908	40892608	23	9174										
SLC38A6	145389	broad.mit.edu	37	chr14	61503802	61503802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ggtatcttgatggacaaacaCtactaataatcatatgtgtt	7	6	2	1	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_ENST00000456840.2_Silent_p.L147L|SLC38A6_ENST00000354886.2_Silent_p.L170L	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			Somatic				SLC38A6_ENST00000267488.4_Silent_p.L170L|SLC38A6_ENST00000456840.2_Silent_p.L147L	p.L170L	NM_001172702.1	NP_001166173.1	WXS	Illumina GAIIx	Phase_I	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	6	62	---	---	---	---	T	61503802	C	T	61503802	2	4	223	1	0	0	0	0	0	0	0	1	14608	564	20	2		2	SLC38A6	14	61503802	Silent	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08		61503802	45845738	24	9175										
TTLL5	23093	broad.mit.edu	37	chr14	76349085	76349085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tatggacaatgaataatggtGcaggttgtagaatttccagt	11	4	0	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.chr14:76349085G>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		Somatic				TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T	p.A1194T	NM_015072.4	NP_055887.3	WXS	Illumina GAIIx	Phase_I	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	17	60	---	---	---	---	A	76349085	G	A	76349085	3	1	223	1	0	0	0	0	1	0	0	0	16727	1319	46	2	3694	2	TTLL5	14	76349085	Missense_Mutation	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	14845283	76349085	31000455	25	9176										
C14orf102	55051	broad.mit.edu	37	chr14	90770672	90770672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	gtggaagtcccttcccaagaTatgcactgcttcttagggtt	10	10	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.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		Somatic				NRDE2_ENST00000357904.3_De_novo_Start_InFrame	p.I204M	NM_017970.3	NP_060440.2	WXS	Illumina GAIIx	Phase_I					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	11	46	---	---	---	---	C	90770672	T	C	90770672	3	2	223	1	0	0	0	0	1	0	0	0	1735	1396	49	2	2922	2	C14orf102	14	90770672	Missense_Mutation	SNP	T	TCGA-KC-A7F3-01A-21D-A33T-08	14421587	90770672	16578868	26	9177										
WIPI1	55062	broad.mit.edu	37	chr17	66440641	66440641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ttttggagctcacctgttggGtttgcaggaatatccaggag	13	7	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.chr17:66440641G>A	ENST00000262139.5	-	4	422	c.423C>T	c.(421-423)aaC>aaT	p.N141N	WIPI1_ENST00000546360.1_Silent_p.N59N|WIPI1_ENST00000589459.1_5'UTR	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			Somatic				WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	p.N141N	NM_017983.5	NP_060453.3	WXS	Illumina GAIIx	Phase_I	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	19	53	---	---	---	---	A	66440641	G	A	66440641	2	1	223	1	0	0	0	0	0	0	0	1	17367	1252	44	2		2	WIPI1	17	66440641	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08		66440641	14754569	27	9178										
ABCA10	10349	broad.mit.edu	37	chr17	67210954	67210959	+	In_Frame_Del	DEL	AAAAAT	AAAAAT	-													0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	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)atttttdel		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		Somatic				ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del	p.IF298del	NM_080282.3	NP_525021.3	WXS	Illumina GAIIx	Phase_I	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	223	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	28	9179										
C17orf80	55028	broad.mit.edu	37	chr17	71232290	71232291	+	Missense_Mutation	DNP	GC	GC	TT													0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	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.chr17:71232290_71232291GC>TT	ENST00000535032.2	+	2	782_783	c.669_670GC>TT	c.(667-672)gtGCct>gtTTct	p.P224S	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S|C17orf80_ENST00000359042.2_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)			TACTAGATGTGCCTACTGGTGA	0.386																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(667-669)gtG>gtT|c.(670-672)Cct>Tct		chromosome 17 open reading frame 80																																				SO:0001583	missense	55028					integral to membrane		g.chr17:71232290G>T|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		Exception_encountered	17.37:g.71232290_71232291delinsTT	ENSP00000440551:p.Pro224Ser		Somatic				C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000255557.4_Silent_p.V223V|C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S	p.V223V|p.P224S	NM_017941.4	NP_060411	WXS	Illumina GAIIx	Phase_I	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	863|864	+			223|224					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent|Missense_Mutation	SNP	ENST00000535032.2	37	c.669G>T|c.670C>T	CCDS11694.1																																																																																				0.386	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		9	53|54	9	53	---	---	---	---	TT	71232291	GC	TT	71232290	3	4	223	1	0	0	0	0	1	0	0	0	1885	1306	46	3	671	3	C17orf80	17	71232290	Missense_Mutation	DNP	GC	TCGA-KC-A7F3-01A-21D-A33T-08	4021336	71232290	9962920	29	9180										
LONP1	9361	broad.mit.edu	37	chr19	5711843	5711843	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tctctacctccaccatgagcAcctcagccgggagctcaggg	10	16	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.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_ENST00000540670.2_Missense_Mutation_p.V74G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G	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		Somatic				LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000540670.2_Missense_Mutation_p.V74G	p.V270G	NM_004793.2	NP_004784.2	WXS	Illumina GAIIx	Phase_I	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	7	69	---	---	---	---	C	5711843	A	C	5711843	3	2	223	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	30	9181										
OR7D4	125958	broad.mit.edu	37	chr19	9325026	9325026	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	tggagaaggtcaacctcttcAtcagtagaatatgaaccagg	10	8	4	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		Somatic					p.M163R	NM_001005191.2	NP_001005191.1	WXS	Illumina GAIIx	Phase_I	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	20	52	---	---	---	---	C	9325026	A	C	9325026	3	2	223	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	31	9182										
NLRP5	126206	broad.mit.edu	37	chr19	56515211	56515211	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	ctcaccttttccagctacggGctgcaatggtgtctctatga	9	12	2	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.chr19:56515211G>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			Somatic					p.G64G	NM_153447.4	NP_703148.4	WXS	Illumina GAIIx	Phase_I	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	17	67	---	---	---	---	C	56515211	G	C	56515211	2	2	223	1	0	0	0	0	0	0	0	1	10480	1190	42	4		4	NLRP5	19	56515211	Silent	SNP	G	TCGA-KC-A7F3-01A-21D-A33T-08	47190185	56515211	2613772	32	9183										
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.151515151515152	5	1	1.54210526315789	2.344	1.25571428571429	1	1	0	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	12	7	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.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000333646.6_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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	3	26	---	---	---	---	T	70349258	C	T	70349258	3	4	223	1	0	0	0	0	1	0	0	0	9428	913	32	2	3772	2	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-KC-A7F3-01A-21D-A33T-08		70349258	84921302	33	9184										
UBXN10	127733	broad.mit.edu	37	chr1	20517106	20517106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	cacctgagtgtagcactgttGtcagcacagcagttgacagc	11	11	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.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		Somatic					p.V18I	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	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	18	76	---	---	---	---	A	20517106	G	A	20517106	3	1	224	1	0	0	0	0	1	0	0	0	16909	1377	48	2	54	2	UBXN10	1	20517106	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		20517106	228733515	1	9185										
COL8A2	1296	broad.mit.edu	37	chr1	36563588	36563588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	gggcagacagctcgcccagcCcaaactgtggcttgcccccc	11	18	0	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		Somatic				COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E	p.G565E			WXS	Illumina GAIIx	Phase_I	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	7	15	---	---	---	---	T	36563588	C	T	36563588	3	4	224	1	0	0	0	0	1	0	0	0	3706	623	22	2	421	2	COL8A2	1	36563588	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	16046482	36563588	212687033	2	9186										
AGL	178	broad.mit.edu	37	chr1	100382037	100382037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	caatcttgctaaaggtttcaAttatcaccaaggacctgtaa	6	9	3	0	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_ENST00000370161.2_Missense_Mutation_p.N1428S|AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_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		Somatic				AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|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	WXS	Illumina GAIIx	Phase_I	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	7	30	---	---	---	---	G	100382037	A	G	100382037	3	3	224	1	0	0	0	0	1	0	0	0	384	101	4	2	4522	2	AGL	1	100382037	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	63818449	100382037	148868584	3	9187										
DTX3L	151636	broad.mit.edu	37	chr3	122283293	122283293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	catggcctcccacctgcgccCgccgtccccgctcctcgtgc	9	23	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	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000462315.1_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		Somatic				PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L	p.P7L	NM_138287.3	NP_612144.1	WXS	Illumina GAIIx	Phase_I	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	5	20	---	---	---	---	T	122283293	C	T	122283293	3	4	224	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	4	9188										
PRLR	5618	broad.mit.edu	37	chr5	35084650	35084650	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	ggcattgaccatcatgatgtAtgtcctccacatggaggtgt	11	9	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_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N	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		Somatic				PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N	p.Y99N	NM_000949.5	NP_000940.1	WXS	Illumina GAIIx	Phase_I	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	4	128	---	---	---	---	T	35084650	A	T	35084650	3	4	224	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	5	9189										
CCNH	902	broad.mit.edu	37	chr5	86707138	86707138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	tcatttcttcatgaggctcaAgaaagactggatcattcgga	9	8	5	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		Somatic				CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	p.L48P	NM_001239.3	NP_001230.1	WXS	Illumina GAIIx	Phase_I	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	6	45	---	---	---	---	G	86707138	A	G	86707138	3	3	224	1	0	0	0	0	1	0	0	0	2925	72	3	2	860	2	CCNH	5	86707138	Missense_Mutation	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	51622488	86707138	94208122	6	9190										
ADAMTS2	9509	broad.mit.edu	37	chr5	178585819	178585819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	ctggcttctgctggaggtagGcccagcggcagacattctcc	13	13	2	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.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		Somatic				ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	p.A346V	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	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	7	59	---	---	---	---	A	178585819	G	A	178585819	3	1	224	1	0	0	0	0	1	0	0	0	265	1203	42	2	2741	2	ADAMTS2	5	178585819	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	91878681	178585819	2329441	7	9191										
MYO6	4646	broad.mit.edu	37	chr6	76576719	76576719	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	cttaatatgtgaatccagagAtaagtttatacgggaattat	8	4	0	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.chr6:76576719A>T	ENST00000369977.3	+	18	1980	c.1841A>T	c.(1840-1842)gAt>gTt	p.D614V	MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|RNA5SP209_ENST00000411237.1_RNA|snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369981.3_Missense_Mutation_p.D614V	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		Somatic				MYO6_ENST00000369977.3_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V	p.D614V			WXS	Illumina GAIIx	Phase_I	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	12	24	---	---	---	---	T	76576719	A	T	76576719	3	4	224	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		76576719	94538348	8	9192										
CSMD3	114788	broad.mit.edu	37	chr8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	tatgcagtgaggtgatgaacCactccaagtgccatctgctt	10	10	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.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_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C	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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	19	52	---	---	---	---	A	113267504	C	A	113267504	3	1	224	1	0	0	0	0	1	0	0	0	3946	594	21	1	1148	1	CSMD3	8	113267504	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		113267504	33096518	9	9193										
GRID1	2894	broad.mit.edu	37	chr10	87362425	87362425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	atccatgaggctgttcatgcGccggtggacctgctccaagt	12	12	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	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|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)	Somatic				GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450S	p.R879S	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	T	87362425	G	T	87362425	3	4	224	1	0	0	0	0	1	0	0	0	6771	1087	38	3	398	3	GRID1	10	87362425	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		87362425	48172322	10	9194										
OR10G4	390264	broad.mit.edu	37	chr11	123886347	123886347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	ccccatgccccagggctggaCgccctcctctttggaatctt	9	17	2	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.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			Somatic					p.D22D	NM_001004462.1	NP_001004462.1	WXS	Illumina GAIIx	Phase_I	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	41	77	---	---	---	---	T	123886347	C	T	123886347	2	4	224	1	0	0	0	0	0	0	0	1	10901	535	19	2		2	OR10G4	11	123886347	Silent	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08		123886347	11120169	11	9195										
TP53	7157	broad.mit.edu	37	chr17	7579402	7579418	+	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	AGATGACAGGGGCCAGG	-													0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	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_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs	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)tcctggcccctgtcatctfs	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)	Somatic				TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs	p.SWPLSS90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	224	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	12	9196										
CNTNAP1	8506	broad.mit.edu	37	chr17	40849769	40849769	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	attgcggagctatgccacgtCttgtttcagaggtgccacct	11	11	2	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.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		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.L1256F	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	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	5	123	---	---	---	---	T	40849769	C	T	40849769	3	4	224	1	0	0	0	0	1	0	0	0	3646	913	32	2	3852	2	CNTNAP1	17	40849769	Missense_Mutation	SNP	C	TCGA-KC-A7F6-01A-11D-A33T-08	33270367	40849769	40345441	13	9197										
MUC16	94025	broad.mit.edu	37	chr19	9085096	9085096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	tactctcagccccatctgaaGgtgtgtcaattacatctgat	7	11	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		Somatic					p.P2240H	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	11	19	---	---	---	---	T	9085096	G	T	9085096	3	4	224	1	0	0	0	0	1	0	0	0	9973	1000	35	1	37140	1	MUC16	19	9085096	Missense_Mutation	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08		9085096	50043887	14	9198										
MUC16	94025	broad.mit.edu	37	chr19	9086805	9086805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	atagagacagtggctgtagaActtcttctttccagtgccat	9	9	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.chr19:9086805A>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			Somatic					p.S1670S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	5	79	---	---	---	---	G	9086805	A	G	9086805	2	3	224	1	0	0	0	0	0	0	0	1	9973	40	2	2		2	MUC16	19	9086805	Silent	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08	1709	9086805	50042178	15	9199										
ZNF229	7772	broad.mit.edu	37	chr19	44933129	44933129	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	aggaggtcggagctgtagatGaaacccttcccacacacgtc	11	12	0	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_ENST00000291187.4_Silent_p.F603F|ZNF229_ENST00000591289.1_Intron	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			Somatic				ZNF229_ENST00000588931.1_Silent_p.F609F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.F603F	NM_001278510.1	NP_001265439.1	WXS	Illumina GAIIx	Phase_I	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	14	65	---	---	---	---	A	44933129	G	A	44933129	2	1	224	1	0	0	0	0	0	0	0	1	17779	1281	45	2		2	ZNF229	19	44933129	Silent	SNP	G	TCGA-KC-A7F6-01A-11D-A33T-08	35846324	44933129	14195854	16	9200										
FLRT3	23767	broad.mit.edu	37	chr20	14306920	14306920	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.93142857142857	NA	1.93142857142857	0.333333333333333	1	0	acagacttcacagtaattgtAattgtttttcttgagggact	8	6	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.chr20:14306920A>G	ENST00000378053.3	-	2	1489	c.1233T>C	c.(1231-1233)atT>atC	p.I411I	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000217246.4_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			Somatic				MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron	p.I411I	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	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	50	143	---	---	---	---	G	14306920	A	G	14306920	2	3	224	1	0	0	0	0	0	0	0	1	5940	358	13	2		2	FLRT3	20	14306920	Silent	SNP	A	TCGA-KC-A7F6-01A-11D-A33T-08		14306920	48718600	17	9201										
C1orf159	54991	broad.mit.edu	37	chr1	1021259	1021259	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gtgctggtccgggagataccTttgtttcttctgtagcaggc	13	9	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.chr1:1021259T>G	ENST00000379339.1	-	9	762	c.552A>C	c.(550-552)aaA>aaC	p.K184N	C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000448924.1_Splice_Site_p.K184N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_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.(550-552)aaA>aaC		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			Somatic				C1orf159_ENST00000379320.1_Splice_Site_p.K148N|C1orf159_ENST00000437760.1_Splice_Site_p.K148N|C1orf159_ENST00000421241.2_Splice_Site_p.K148N|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.K184N|C1orf159_ENST00000294576.5_Splice_Site_p.K148N|C1orf159_ENST00000379319.1_Splice_Site_p.K148N	p.K184N			WXS	Illumina GAIIx	Phase_I	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.552A>C		.	.	.	.	.	.	.	.	.	.	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	4	23	---	---	---	---	G	1021259	T	G	1021259	5	3	225	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	9202										
LY9	4063	broad.mit.edu	37	chr1	160771695	160771695	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gctgagccacgtgtgagcgtGcgggagggctaggccctcgc	18	12	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.chr1:160771695G>A	ENST00000263285.6	+	2	484				LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368039.2_Silent_p.V190V			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			Somatic				LY9_ENST00000368037.5_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000263285.6_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000341032.4_Intron	p.V190V	NM_001033667.2	NP_001028839.1	WXS	Illumina GAIIx	Phase_I	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	10	79	---	---	---	---	A	160771695	G	A	160771695	1	1	225	0	1	0	0	0	0	0	0	0	9101	1306	46	2		2	LY9	1	160771695	Intron	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	159750436	160771695	88478926	2	9203										
F13B	2165	broad.mit.edu	37	chr1	197008543	197008543	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	ttcttgataagacagagtgcTtgaggggaaaaagagagatt	13	3	1	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.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			Somatic						NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	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	4	151	---	---	---	---	A	197008543	T	A	197008543	5	1	225	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	3	9204										
SRGAP2	23380	broad.mit.edu	37	chr1	206610382	206610382	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gtgaatgacatcaaaaatgcCtttgagagaggtaaggaaac	11	5	1	4	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			Somatic				SRGAP2_ENST00000419187.2_5'UTR	p.A401A			WXS	Illumina GAIIx	Phase_I	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	6	93	---	---	---	---	G	206610382	C	G	206610382	2	3	225	1	0	0	0	0	0	0	0	1	15145	668	24	4		4	SRGAP2	1	206610382	Silent	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	9601839	206610382	42640239	4	9205										
RYR2	6262	broad.mit.edu	37	chr1	237787069	237787069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tttttcaaactttcagatcaAtatgcttctcaattttaagg	4	7	4	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.chr1:237787069A>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		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.N1972S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1958S	p.N1974S	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	11	12	---	---	---	---	G	237787069	A	G	237787069	3	3	225	1	0	0	0	0	1	0	0	0	13769	101	4	2	6075	2	RYR2	1	237787069	Missense_Mutation	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	31176687	237787069	11463552	5	9206										
EPT1	85465	broad.mit.edu	37	chr2	26609300	26609300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tggttcctctcttcttggttGtcttagtggtaaacctagga	10	8	3	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.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		Somatic					p.V331I	NM_033505.2	NP_277040.1	WXS	Illumina GAIIx	Phase_I	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	22	44	---	---	---	---	A	26609300	G	A	26609300	3	1	225	1	0	0	0	0	1	0	0	0	5199	1377	48	2	1025	2	EPT1	2	26609300	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		26609300	216590073	6	9207										
RAB6C	84084	broad.mit.edu	37	chr2	130738003	130738003	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	aactcattccagcaaactacAaagtggattgatgatgtcag	8	8	2	2	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			Somatic				AC079776.7_ENST00000412425.1_RNA	p.T105T	NM_032144.2	NP_115520.2	WXS	Illumina GAIIx	Phase_I	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	6	121	---	---	---	---	G	130738003	A	G	130738003	2	3	225	1	0	0	0	0	0	0	0	1	12953	117	5	2		2	RAB6C	2	130738003	Silent	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	104128703	130738003	112461370	7	9208										
ITGB6	3694	broad.mit.edu	37	chr2	161030498	161030498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	agcataccttacacacagcaGcttgcataattgcatcaaat	5	11	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.chr2:161030498G>A	ENST00000283249.2	-	5	983	c.746C>T	c.(745-747)gCt>gTt	p.A249V	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.A249V|ITGB6_ENST00000409967.2_Missense_Mutation_p.A249V|ITGB6_ENST00000428609.2_Missense_Mutation_p.A207V	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		Somatic				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	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	WXS	Illumina GAIIx	Phase_I	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	8	50	---	---	---	---	A	161030498	G	A	161030498	3	1	225	1	0	0	0	0	1	0	0	0	7899	971	34	2	1664	2	ITGB6	2	161030498	Missense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	30292495	161030498	82168875	8	9209										
ADAMTS9	56999	broad.mit.edu	37	chr3	64526848	64526848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	cggccgtgtaatccttccgaCattggcagtcatcgcgccgg	12	14	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.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		Somatic				ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1787F	p.C1815F	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	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	36	47	---	---	---	---	A	64526848	C	A	64526848	3	1	225	1	0	0	0	0	1	0	0	0	273	478	17	3	379	3	ADAMTS9	3	64526848	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		64526848	133495582	9	9210										
LRIG1	26018	broad.mit.edu	37	chr3	66502033	66502033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gcgcccagggatggtaccgcTgtcaactcattattattgag	11	10	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.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			Somatic				LRIG1_ENST00000273261.3_Silent_p.T105T	p.T105T			WXS	Illumina GAIIx	Phase_I	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	41	50	---	---	---	---	C	66502033	T	C	66502033	2	2	225	1	0	0	0	0	0	0	0	1	8944	1567	55	2		2	LRIG1	3	66502033	Silent	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08	1975185	66502033	131520397	10	9211										
MAP3K13	9175	broad.mit.edu	37	chr3	185146622	185146622	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	accagtttgagaacagcgttCttcagctaagggaacacgat	10	9	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.chr3:185146622C>T	ENST00000265026.3	+	2	587	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F	MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F|MAP3K13_ENST00000446828.1_Intron|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		Somatic				MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.L85F	p.L85F	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	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	15	22	---	---	---	---	T	185146622	C	T	185146622	3	4	225	1	0	0	0	0	1	0	0	0	9247	913	32	2	255	2	MAP3K13	3	185146622	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	118644589	185146622	12875808	11	9212										
SFRP2	6423	broad.mit.edu	37	chr4	154709764	154709764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gcgggatccaagcgccggccTgctccagcacctccttcatg	11	17	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.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		Somatic					p.Q75R	NM_003013.2	NP_003004.1	WXS	Illumina GAIIx	Phase_I	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	21	75	---	---	---	---	C	154709764	T	C	154709764	3	2	225	1	0	0	0	0	1	0	0	0	14162	1580	55	2	675	2	SFRP2	4	154709764	Missense_Mutation	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08		154709764	36444512	12	9213										
PPAP2A	8611	broad.mit.edu	37	chr5	54786858	54786858	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	cggtactgtcatggtacggaTagttgatgctgttgtcttta	12	6	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.chr5:54786858T>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			Somatic				PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron	p.Y48C	NM_176895.1	NP_795714.1	WXS	Illumina GAIIx	Phase_I	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	3	38	---	---	---	---	C	54786858	T	C	54786858	1	2	225	0	1	0	0	0	0	0	0	0	12290	1406	49	2		2	PPAP2A	5	54786858	Intron	SNP	T	TCGA-KC-A7FA-01A-21D-A33T-08		54786858	126128402	13	9214										
TIMD4	91937	broad.mit.edu	37	chr5	156381616	156381616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gtcaccctcattccatcagtGcggatgagcgcctccttgca	9	15	3	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.chr5:156381616G>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			Somatic				TIMD4_ENST00000407087.3_Silent_p.R70R	p.R70R	NM_138379.2	NP_612388.2	WXS	Illumina GAIIx	Phase_I	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	14	32	---	---	---	---	A	156381616	G	A	156381616	2	1	225	1	0	0	0	0	0	0	0	1	15900	1306	46	2		2	TIMD4	5	156381616	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	101594758	156381616	24533644	14	9215										
FILIP1	27145	broad.mit.edu	37	chr6	76022274	76022274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tgtcacgtttactggtcggaCagtaataactggactgactc	10	9	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.chr6:76022274C>A	ENST00000237172.7	-	5	3604	c.3274G>T	c.(3274-3276)Gtc>Ttc	p.V1092F	FILIP1_ENST00000393004.2_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F	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		Somatic				FILIP1_ENST00000370020.1_Missense_Mutation_p.V993F|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1092F|FILIP1_ENST00000498523.1_5'UTR	p.V1092F			WXS	Illumina GAIIx	Phase_I	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	30	79	---	---	---	---	A	76022274	C	A	76022274	3	1	225	1	0	0	0	0	1	0	0	0	5894	478	17	3	375	3	FILIP1	6	76022274	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		76022274	95092793	15	9216										
RSPH3	83861	broad.mit.edu	37	chr6	159420666	159420667	+	Frame_Shift_Ins	INS	-	-	T													0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	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_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000449822.1_5'UTR|RP1-111C20.4_ENST00000607796.1_RNA|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)ttacatfs		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		Somatic				RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.H115fs|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR	p.H115fs	NM_031924.4	NP_114130.3	WXS	Illumina GAIIx	Phase_I	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	225	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	16	9217										
AUTS2	26053	broad.mit.edu	37	chr7	70228266	70228266	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tgcaggcccacccctctgctCagagcctctcccagccattg	8	19	3	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*		Somatic				AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q385*	p.Q385*	NM_015570.2	NP_056385.1	WXS	Illumina GAIIx	Phase_I	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	21	36	---	---	---	---	T	70228266	C	T	70228266	4	4	225	1	0	0	0	0	0	1	0	0	1225	827	29	2	1324	2	AUTS2	7	70228266	Nonsense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		70228266	88910397	17	9218										
LRP12	29967	broad.mit.edu	37	chr8	105509980	105509980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tgggagaattaaaagtaccaTaaaaatattttagccattgc	7	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.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		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.Y248S	p.Y267S	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	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	17	35	---	---	---	---	G	105509980	T	G	105509980	3	3	225	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		105509980	40854042	18	9219										
APBA1	320	broad.mit.edu	37	chr9	72131766	72131766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	ctcggcctcgggccggtactGcacagcataggcgctctcgt	13	15	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.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*		Somatic					p.Q121*	NM_001163.3	NP_001154.2	WXS	Illumina GAIIx	Phase_I	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	11	11	---	---	---	---	A	72131766	G	A	72131766	4	1	225	1	0	0	0	0	0	1	0	0	756	1328	46	2	2200	2	APBA1	9	72131766	Nonsense_Mutation	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		72131766	69081665	19	9220										
PTPDC1	138639	broad.mit.edu	37	chr9	96860386	96860386	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	actttctttctggagtcagtCaaagtttggaggcctggaag	12	7	4	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.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*		Somatic				PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.S511*	p.S459*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	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	7	29	---	---	---	---	G	96860386	C	G	96860386	4	3	225	1	0	0	0	0	0	1	0	0	12773	838	29	4	1640	4	PTPDC1	9	96860386	Nonsense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	24728620	96860386	44353045	20	9221										
SMC2	10592	broad.mit.edu	37	chr9	106882359	106882359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	caagtttcaagaactcaaagAtgttcaggatgaactgagaa	9	6	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.chr9:106882359A>G	ENST00000286398.7	+	16	2336	c.2048A>G	c.(2047-2049)gAt>gGt	p.D683G	SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_Missense_Mutation_p.D683G|SMC2_ENST00000374793.3_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		Somatic				SMC2_ENST00000374787.3_Missense_Mutation_p.D683G|SMC2_ENST00000303219.8_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	WXS	Illumina GAIIx	Phase_I	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	8	110	---	---	---	---	G	106882359	A	G	106882359	3	3	225	1	0	0	0	0	1	0	0	0	14783	333	12	2	2106	2	SMC2	9	106882359	Missense_Mutation	SNP	A	TCGA-KC-A7FA-01A-21D-A33T-08	10021973	106882359	34331072	21	9222										
SPAG6	9576	broad.mit.edu	37	chr10	22657474	22657474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	ttacgagcagttggtaaacaTtctccccagctagctcaggc	9	12	2	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.chr10:22657474T>G	ENST00000376624.3	+	4	481	c.339T>G	c.(337-339)caT>caG	p.H113Q	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.H189Q|SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q	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		Somatic				SPAG6_ENST00000313311.6_Missense_Mutation_p.H113Q|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H88Q|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.H113Q	p.H189Q			WXS	Illumina GAIIx	Phase_I	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	30	42	---	---	---	---	G	22657474	T	G	22657474	3	3	225	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		22657474	112877273	22	9223										
JMJD1C	221037	broad.mit.edu	37	chr10	64968481	64968481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	aatcttttccagtctgtgacCtatttagatccaggtcattt	6	9	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.chr10:64968481C>G	ENST00000399262.2	-	10	3166	c.2948G>C	c.(2947-2949)aGg>aCg	p.R983T	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T	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		Somatic				JMJD1C_ENST00000399251.1_Missense_Mutation_p.R764T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R801T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R764T	p.R983T	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	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	33	45	---	---	---	---	G	64968481	C	G	64968481	3	3	225	1	0	0	0	0	1	0	0	0	7950	681	24	4	4742	4	JMJD1C	10	64968481	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08	42311007	64968481	70566266	23	9224										
ECD	11319	broad.mit.edu	37	chr10	74916082	74916082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tatagattctgaagcaagtaTtttttctgaatgtgctgtga	9	4	2	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.chr10:74916082T>G	ENST00000372979.4	-	5	747	c.541A>C	c.(541-543)Ata>Cta	p.I181L	ECD_ENST00000430082.2_Missense_Mutation_p.I181L|ECD_ENST00000610256.1_5'Flank|ECD_ENST00000454759.2_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		Somatic				ECD_ENST00000454759.2_Missense_Mutation_p.I181L|ECD_ENST00000430082.2_Missense_Mutation_p.I181L	p.I181L	NM_007265.2	NP_009196.1	WXS	Illumina GAIIx	Phase_I	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	11	72	---	---	---	---	G	74916082	T	G	74916082	3	3	225	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	24	9225										
DPYSL4	10570	broad.mit.edu	37	chr10	134016313	134016313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	ggactttgtctacaagaggaTcaaagctcgcaacagggtag	12	8	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.chr10:134016313T>G	ENST00000338492.4	+	12	1609	c.1445T>G	c.(1444-1446)aTc>aGc	p.I482S	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_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		Somatic				DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	p.I482S	NM_006426.2	NP_006417.2	WXS	Illumina GAIIx	Phase_I	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	22	45	---	---	---	---	G	134016313	T	G	134016313	3	3	225	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	25	9226										
OVCH1	341350	broad.mit.edu	37	chr12	29649132	29649132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	actcactgaggctgtccaggCagtgtgctgctgtaacaacc	11	12	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.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		Somatic					p.C88F	NM_183378.2	NP_899234.2	WXS	Illumina GAIIx	Phase_I	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	3	2	---	---	---	---	A	29649132	C	A	29649132	3	1	225	1	0	0	0	0	1	0	0	0	11323	710	25	3	3245	3	OVCH1	12	29649132	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		29649132	104202763	26	9227										
MLL2	8085	broad.mit.edu	37	chr12	49431090	49431105	+	Frame_Shift_Del	DEL	ACCATAGCCATGGATG	ACCATAGCCATGGATG	-													0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	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)ccatccatggctatggtgfs		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		Somatic					p.PSMAMV3345fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	225	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	27	9228										
FREM2	341640	broad.mit.edu	37	chr13	39264479	39264479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	aaatcttggtcaatggcattCcagcagagcagtttactcaa	8	9	3	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.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		Somatic					p.P1000S	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	T	39264479	C	T	39264479	3	4	225	1	0	0	0	0	1	0	0	0	6045	855	30	2	3000	2	FREM2	13	39264479	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		39264479	75905399	28	9229										
PYGL	5836	broad.mit.edu	37	chr14	51383369	51383369	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	actatccagaccttggaccaGggcagtttttcaatatccac	7	12	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.chr14:51383369G>C	ENST00000216392.7	-	9	1415	c.1083C>G	c.(1081-1083)ccC>ccG	p.P361P	PYGL_ENST00000532462.1_Silent_p.P361P|PYGL_ENST00000544180.2_Silent_p.P327P	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			Somatic				PYGL_ENST00000544180.2_Silent_p.P327P|PYGL_ENST00000532462.1_Silent_p.P361P	p.P361P	NM_002863.4	NP_002854.3	WXS	Illumina GAIIx	Phase_I	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	11	32	---	---	---	---	C	51383369	G	C	51383369	2	2	225	1	0	0	0	0	0	0	0	1	12861	987	35	4		4	PYGL	14	51383369	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08		51383369	55966171	29	9230										
MEIS2	4212	broad.mit.edu	37	chr15	37388558	37388558	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	gacgtctccgccagccactcCaggttcccggggagtgcagg	14	15	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.chr15:37388558C>G	ENST00000561208.1	-	3	737	c.319G>C	c.(319-321)Gga>Cga	p.G107R	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_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R			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		Somatic				MEIS2_ENST00000561208.1_Missense_Mutation_p.G107R|MEIS2_ENST00000444725.1_Missense_Mutation_p.G107R|MEIS2_ENST00000397620.2_Missense_Mutation_p.G19R|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.G94R|MEIS2_ENST00000382766.2_Missense_Mutation_p.G107R|MEIS2_ENST00000397624.3_Missense_Mutation_p.G19R|MEIS2_ENST00000424352.2_Missense_Mutation_p.G107R|MEIS2_ENST00000559085.1_Missense_Mutation_p.G94R|MEIS2_ENST00000559561.1_Missense_Mutation_p.G107R|MEIS2_ENST00000340545.5_Missense_Mutation_p.G94R	p.G107R	NM_001220482.1	NP_001207411.1	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	G	37388558	C	G	37388558	3	3	225	1	0	0	0	0	1	0	0	0	9468	603	21	4	1217	4	MEIS2	15	37388558	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		37388558	65142834	30	9231										
TP53	7157	broad.mit.edu	37	chr17	7576851	7576851	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	aagaggtcccaagacttagtAcctgaagggtgaaatattct	10	7	1	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_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_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.?(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)	Somatic				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	13	13	---	---	---	---	C	7576851	A	C	7576851	5	2	225	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	31	9232										
SIN3B	23309	broad.mit.edu	37	chr19	16962337	16962337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	tcctccgccccgtgtctgcaCccgccaaggtacctgtgagc	10	18	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.chr19:16962337C>T	ENST00000248054.5	+	6	862	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000379803.1_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		Somatic				SIN3B_ENST00000596802.1_Missense_Mutation_p.P281S|SIN3B_ENST00000248054.5_Missense_Mutation_p.P281S	p.P281S	NM_015260.2	NP_056075.1	WXS	Illumina GAIIx	Phase_I	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	13	31	---	---	---	---	T	16962337	C	T	16962337	3	4	225	1	0	0	0	0	1	0	0	0	14326	507	18	2	863	2	SIN3B	19	16962337	Missense_Mutation	SNP	C	TCGA-KC-A7FA-01A-21D-A33T-08		16962337	42166646	32	9233										
AKT2	208	broad.mit.edu	37	chr19	40745988	40745988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	3	1	1.258	1.258	1.258	1	1	0	ctggtgttctggaggacccgGctctcggtgactgtgtgagc	16	10	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.chr19:40745988G>A	ENST00000392038.2	-	7	901	c.603C>T	c.(601-603)agC>agT	p.S201S	AKT2_ENST00000424901.1_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000311278.6_Silent_p.S201S	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			Somatic				AKT2_ENST00000311278.6_Silent_p.S201S|AKT2_ENST00000579047.1_Silent_p.S139S|AKT2_ENST00000424901.1_Silent_p.S201S	p.S201S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	WXS	Illumina GAIIx	Phase_I	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	7	169	---	---	---	---	A	40745988	G	A	40745988	2	1	225	1	0	0	0	0	0	0	0	1	480	1194	42	2		2	AKT2	19	40745988	Silent	SNP	G	TCGA-KC-A7FA-01A-21D-A33T-08	23783651	40745988	18382995	33	9234										
PRAMEF1	65121	broad.mit.edu	37	chr1	12854346	12854346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	aagctggtcaattatctaacGccgattaaatatctcagaaa	6	8	3	1	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			Somatic					p.T190T	NM_023013.2	NP_075389.1	WXS	Illumina GAIIx	Phase_I	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	9	576	---	---	---	---	A	12854346	G	A	12854346	2	1	226	1	0	0	0	0	0	0	0	1	12425	1074	38	2		2	PRAMEF1	1	12854346	Silent	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		12854346	236396275	1	9235										
KAZ	23254	broad.mit.edu	37	chr1	15386729	15386729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	atctccgacgcatctgccgcCgaaggcgaccggtcgtccac	11	17	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.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A|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			Somatic				KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A|KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000400797.3_Silent_p.A232A	p.A326A	NM_201628.2	NP_963922.2	WXS	Illumina GAIIx	Phase_I	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	8	102	---	---	---	---	T	15386729	C	T	15386729	2	4	226	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	2	9236										
ARHGEF2	9181	broad.mit.edu	37	chr1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ccatcgtggatgagtttgcgCctcagaagttcctctcggcc	11	13	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.chr1:155931510C>G	ENST00000361247.4	-	11	1509	c.1410G>C	c.(1408-1410)agG>agC	p.R470S	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|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)	ENST00000462460.2																			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.(1543-1545)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		Somatic				ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R442S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S	p.R515S			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			15	1799	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					PH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1545G>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	23	33	---	---	---	---	G	155931510	C	G	155931510	3	3	226	1	0	0	0	0	1	0	0	0	903	738	26	4	1598	4	ARHGEF2	1	155931510	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	140544781	155931510	93319111	3	9237										
OR10K2	391107	broad.mit.edu	37	chr1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	cagagaggatgtgaacatagGacaccaagatcaacaataag	10	7	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.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		Somatic					p.S217Y	NM_001004476.1	NP_001004476.1	WXS	Illumina GAIIx	Phase_I	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	24	39	---	---	---	---	T	158390007	G	T	158390007	3	4	226	1	0	0	0	0	1	0	0	0	10914	1174	41	3	290	3	OR10K2	1	158390007	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	2458497	158390007	90860614	4	9238										
SPTA1	6708	broad.mit.edu	37	chr1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	tcatcatctgccaactttttCttcttgttgatccagttctt	4	11	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.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																																						ENST00000368147.4																			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		Somatic					p.K601N	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			14	1983	-	all_hematologic(112;0.0378)							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	79	140	---	---	---	---	G	158639228	C	G	158639228	3	3	226	1	0	0	0	0	1	0	0	0	15115	912	32	4	5612	4	SPTA1	1	158639228	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	249221	158639228	90611393	5	9239										
OR2T10	127069	broad.mit.edu	37	chr1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	gatagtgtagaaaaaggatgAcatcatatctttctcaggag	10	5	3	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.chr1:248756250A>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		Somatic					p.S274P	NM_001004693.1	NP_001004693.1	WXS	Illumina GAIIx	Phase_I	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	20	41	---	---	---	---	G	248756250	A	G	248756250	3	3	226	1	0	0	0	0	1	0	0	0	11017	275	10	2	121	2	OR2T10	1	248756250	Missense_Mutation	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	90117022	248756250	494371	6	9240										
TTN	7273	broad.mit.edu	37	chr2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	agttgggtatagtttactccCttttcaatttggaccttatc	7	8	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.chr2:179430936C>A	ENST00000591111.1	-	276	75224	c.75000G>T	c.(74998-75000)aaG>aaT	p.K25000N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26641N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN-AS1_ENST00000590807.1_RNA			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		Somatic				TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN-AS1_ENST00000592600.1_RNA	p.K26641N	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	4	151	---	---	---	---	A	179430936	C	A	179430936	3	1	226	1	0	0	0	0	1	0	0	0	16732	680	24	1	28204	1	TTN	2	179430936	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		179430936	63768437	7	9241										
PLCL2	23228	broad.mit.edu	37	chr3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	agtgattgtattaattcaatGgttgagggttcagaactcaa	10	4	3	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.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_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		Somatic				PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000460467.1_3'UTR	p.M17I	NM_001144382.1	NP_001137854.1	WXS	Illumina GAIIx	Phase_I	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	24	36	---	---	---	---	C	17051267	G	C	17051267	3	2	226	1	0	0	0	0	1	0	0	0	12040	1348	47	4	429	4	PLCL2	3	17051267	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		17051267	180971163	8	9242										
KLHL18	23276	broad.mit.edu	37	chr3	47364056	47364056	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	cagctttccctctttcctctAgtgccctggaggctctgatc	8	15	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.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			Somatic				KLHL18_ENST00000455924.2_Splice_Site		NM_025010.4	NP_079286.2	WXS	Illumina GAIIx	Phase_I	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	20	22	---	---	---	---	G	47364056	A	G	47364056	5	3	226	1	0	0	0	0	0	0	1	0	8373	434	15	2	269	2	KLHL18	3	47364056	Splice_Site	SNP	A	TCGA-KC-A7FD-01A-11D-A33T-08	30312789	47364056	150658374	9	9243										
PIK3R4	30849	broad.mit.edu	37	chr3	130452642	130452642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ggagccaaatgaagaatcagTtccaaagcagctagtttgga	11	7	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.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			Somatic					p.E400E	NM_014602.2	NP_055417.1	WXS	Illumina GAIIx	Phase_I	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	9	98	---	---	---	---	C	130452642	T	C	130452642	2	2	226	1	0	0	0	0	0	0	0	1	11921	1722	60	2		2	PIK3R4	3	130452642	Silent	SNP	T	TCGA-KC-A7FD-01A-11D-A33T-08	83088586	130452642	67569788	10	9244										
UBXN7	26043	broad.mit.edu	37	chr3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ctcactgccagaaaaaagttCagattcagattcttcatctg	6	10	6	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.chr3:196089432C>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*		Somatic				UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*|UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*	p.E321*	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	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	49	84	---	---	---	---	A	196089432	C	A	196089432	4	1	226	1	0	0	0	0	0	1	0	0	16915	835	29	3	520	3	UBXN7	3	196089432	Nonsense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08	65636790	196089432	1932998	11	9245										
C4orf51	646603	broad.mit.edu	37	chr4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	attttcttttagagcaggacAgcatgagcctgagtgtaaac	10	7	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.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		Somatic					p.Q71L	NM_001080531.1	NP_001074000.1	WXS	Illumina GAIIx	Phase_I	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	6	33	---	---	---	---	T	146601567	A	T	146601567	3	4	226	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		146601567	44552709	12	9246										
WDR17	116966	broad.mit.edu	37	chr4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	gagacaggtttgcatattgtGcgaccctggctatctatatt	10	8	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.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		Somatic				WDR17_ENST00000508596.1_Missense_Mutation_p.A33T|WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T	p.A33T	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	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	23	44	---	---	---	---	A	177032828	G	A	177032828	3	1	226	1	0	0	0	0	1	0	0	0	17274	1319	46	2	175	2	WDR17	4	177032828	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08	30431261	177032828	14121448	13	9247										
AGA	175	broad.mit.edu	37	chr4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	actttttcctcagttggctgAtttttttcggaattataaac	6	7	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.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		Somatic					p.N336K	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	T	178352895	A	T	178352895	3	4	226	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	14	9248										
GPR98	84059	broad.mit.edu	37	chr5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	gaggaagatgttgggctgatCatgatcccagtggtgaggct	16	6	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.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		Somatic				GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	p.I4418M	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	63	112	---	---	---	---	G	90078963	C	G	90078963	3	3	226	1	0	0	0	0	1	0	0	0	6721	816	29	4	13516	4	GPR98	5	90078963	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		90078963	90836297	15	9249										
COL10A1	1300	broad.mit.edu	37	chr6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ctgttgtccaggttttcctgGcacagaaattccagccggtc	10	12	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.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		Somatic				NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S	p.P155S			WXS	Illumina GAIIx	Phase_I	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	17	16	---	---	---	---	A	116442816	G	A	116442816	3	1	226	1	0	0	0	0	1	0	0	0	3666	1203	42	2	1583	2	COL10A1	6	116442816	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		116442816	54672251	16	9250										
XPO7	23039	broad.mit.edu	37	chr8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	taaacttgaatgatgaaagtCagcatggcttgctcatgcaa	9	7	2	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*		Somatic				XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*|XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*	p.Q221*			WXS	Illumina GAIIx	Phase_I	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	5	106	---	---	---	---	T	21833903	C	T	21833903	4	4	226	1	0	0	0	0	0	1	0	0	17446	827	29	2	712	2	XPO7	8	21833903	Nonsense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		21833903	124530119	17	9251										
XPO7	23039	broad.mit.edu	37	chr8	21842352	21842352	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	gacattgcagtgcaggagggTgagtgtgcagcgtgctggga	19	6	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			Somatic				XPO7_ENST00000433566.4_Splice_Site|XPO7_ENST00000252512.9_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	18	21	---	---	---	---	A	21842352	T	A	21842352	5	1	226	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	18	9252										
NFX1	4799	broad.mit.edu	37	chr9	33313652	33313653	+	Splice_Site	DNP	GC	GC	TT													0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	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.chr9:33313652_33313653GC>TT	ENST00000379540.3	+	7	1511_1512	c.1449_1450GC>TT	c.(1447-1452)agGCac>agTTac	p.483_484RH>SY	NFX1_ENST00000379521.4_Splice_Site_p.483_484RH>SY|NFX1_ENST00000318524.6_Splice_Site_p.483_484RH>SY	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)		GTCTTTACAGGCACACAGTTCG	0.48																																						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.(1447-1449)agG>agT|c.(1450-1452)Cac>Tac		nuclear transcription factor, X-box binding 1																																				SO:0001630	splice_region_variant	4799				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|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	Exception_encountered	9.37:g.33313652_33313653delinsTT			Somatic				NFX1_ENST00000318524.6_Splice_Site_p.R483S|NFX1_ENST00000379521.4_Splice_Site_p.R483S|NFX1_ENST00000318524.6_Splice_Site_p.H484Y|NFX1_ENST00000379521.4_Splice_Site_p.H484Y	p.R483S|p.H484Y	NM_002504.4	NP_002495.2	WXS	Illumina GAIIx	Phase_I	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1511|1512	+			483|484					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Splice_Site	SNP	ENST00000379540.3	37	c.1449G>T|c.1450C>T	CCDS6538.1																																																																																				0.48	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		Missense_Mutation	32|33	56|57	32	56	---	---	---	---	TT	33313653	GC	TT	33313652	5	4	226	1	0	0	0	0	0	0	1	0	10387	1217	42	3	1475	3	NFX1	9	33313652	Splice_Site	DNP	GC	TCGA-KC-A7FD-01A-11D-A33T-08		33313652	107899779	19	9253										
VCP	7415	broad.mit.edu	37	chr9	35062992	35062993	+	Missense_Mutation	DNP	AA	AA	GC													0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	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.chr9:35062992_35062993AA>GC	ENST00000358901.6	-	7	1688_1689	c.793_794TT>GC	c.(793-795)TTc>GCc	p.F265A		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)			CAAGAAGAAGAAGGCTCCAGTC	0.465																																						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|c.(793-795)Ttc>Gtc		valosin containing protein																																				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|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.793_794delinsGC	9.37:g.35062992_35062993delinsGC	ENSP00000351777:p.Phe265Ala		Somatic					p.F265S|p.F265V	NM_007126.3	NP_009057.1	WXS	Illumina GAIIx	Phase_I	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1689|1688	-			265					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.794T>C|c.793T>G	CCDS6573.1																																																																																				0.465	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		29|27	86	27	86	---	---	---	---	GC	35062993	AA	GC	35062992	3	3	226	1	0	0	0	0	1	0	0	0	17137	246	9	2	1670	2	VCP	9	35062992	Missense_Mutation	DNP	AA	TCGA-KC-A7FD-01A-11D-A33T-08	1749340	35062992	106150439	20	9254										
MTG1	92170	broad.mit.edu	37	chr10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ggacactcctggcgtgctggCtcctcggattgaaagtgtgg	15	10	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.chr10:135215702C>T	ENST00000317502.6	+	8	673	c.623C>T	c.(622-624)gCt>gTt	p.A208V	MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.A213V	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	92170							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		Somatic				MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V	p.A213V			WXS	Illumina GAIIx	Phase_I					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	60	90	---	---	---	---	T	135215702	C	T	135215702	3	4	226	1	0	0	0	0	1	0	0	0	9926	797	28	2	653	2	MTG1	10	135215702	Missense_Mutation	SNP	C	TCGA-KC-A7FD-01A-11D-A33T-08		135215702	319045	21	9255										
SLC17A6	57084	broad.mit.edu	37	chr11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	atcttttctatttcagggttTtcggagctgccatacttctt	7	9	4	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.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		Somatic					p.F155I	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	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	13	25	---	---	---	---	A	22380963	T	A	22380963	3	1	226	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		22380963	112625553	22	9256										
ATF7	11016	broad.mit.edu	37	chr12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	caggcatggtctgtccattaGcaagatgcatgacaagaggg	13	8	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.chr12:53927005G>C	ENST00000548446.2	-	7	744	c.632C>G	c.(631-633)gCt>gGt	p.A211G	ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000420353.2_Missense_Mutation_p.A200G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G			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		Somatic				RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G	p.A200G	NM_006856.2	NP_006847.1	WXS	Illumina GAIIx	Phase_I	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	20	31	---	---	---	---	C	53927005	G	C	53927005	3	2	226	1	0	0	0	0	1	0	0	0	1086	971	34	4	876	4	ATF7	12	53927005	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		53927005	79924890	23	9257										
BTG1	694	broad.mit.edu	37	chr12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-													0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	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	RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000499685.2_RNA|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)aacfs		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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	226	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	24	9258										
PCDH17	27253	broad.mit.edu	37	chr13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ccctgagccctctcctccaaGaggtcccctcagcatcaagc	7	19	3	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.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		Somatic					p.E1031K	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	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	4	87	---	---	---	---	A	58299039	G	A	58299039	3	1	226	1	0	0	0	0	1	0	0	0	11512	943	33	2	3105	2	PCDH17	13	58299039	Missense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		58299039	56870839	25	9259										
ZFHX3	463	broad.mit.edu	37	chr16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	gaggtgggtgaggtgcagctGgaggtggatcttgttgttga	20	3	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.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*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	p.Q1268*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	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	12	19	---	---	---	---	A	72845538	G	A	72845538	4	1	226	1	0	0	0	0	0	1	0	0	17631	1357	47	2	7325	2	ZFHX3	16	72845538	Nonsense_Mutation	SNP	G	TCGA-KC-A7FD-01A-11D-A33T-08		72845538	17509215	26	9260										
ZNF317	57693	broad.mit.edu	37	chr19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	1	1.52597402597403	2.13636363636364	1.18686868686869	1	1	0	ctggcaagaggccctatcacCgccgcgactatggggtagcg	14	13	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.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		Somatic				ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	p.R196C	NM_020933.4	NP_065984.3	WXS	Illumina GAIIx	Phase_I	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	9	13	---	---	---	---	T	9270907	C	T	9270907	3	4	226	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	27	9261										
CD48	962	broad.mit.edu	37	chr1	160651208	160651208	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	1	1	1.47058823529412	0	2.20588235294118	1	1	0	cagtttcagataacagttgtCatccatgtcttctatcttct	5	10	6	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.chr1:160651208C>T	ENST00000368046.3	-	3	523	c.436G>A	c.(436-438)Gac>Aac	p.D146N	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_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		Somatic				RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	p.D146N	NM_001778.3	NP_001769.2	WXS	Illumina GAIIx	Phase_I	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	21	100	---	---	---	---	T	160651208	C	T	160651208	3	4	227	1	0	0	0	0	1	0	0	0	3020	826	29	2	303	2	CD48	1	160651208	Missense_Mutation	SNP	C	TCGA-KC-A7FE-01A-12D-A33T-08		160651208	88599413	1	9262										
C3orf54	7318	broad.mit.edu	37	chr3	49842264	49842264	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	1	1	1.47058823529412	0	2.20588235294118	1	1	0	tctgagcagcttcggcgccgGctggccagggctcggcggac	17	14	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.chr3:49842264G>A	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Silent_p.R236R|MIR5193_ENST00000584510.1_RNA	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			Somatic					p.R236R	NM_203370.1	NP_976248.1	WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	A	49842264	G	A	49842264	1	1	227	0	1	0	0	0	0	0	0	0	2233	1190	42	2		2	C3orf54	3	49842264	IGR	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		49842264	148180166	2	9263										
SFRS18	25957	broad.mit.edu	37	chr6	99852521	99852521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1	1	1.47058823529412	0	2.20588235294118	1	1	0	atctttggctacgtaataaaTttcttcatctgtgacatcca	5	9	4	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.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		Somatic				PNISR_ENST00000438806.1_Missense_Mutation_p.I354L	p.I354L	NM_032870.2	NP_116259.2	WXS	Illumina GAIIx	Phase_I	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	7	45	---	---	---	---	G	99852521	T	G	99852521	3	3	227	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	3	9264										
METTL4	64863	broad.mit.edu	37	chr18	2539121	2539121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.25	1	1	1.47058823529412	0	2.20588235294118	1	1	0	ctccaaatattccccatctgGcttgatgtagtcttttaaaa	5	10	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.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		Somatic				METTL4_ENST00000574538.1_Missense_Mutation_p.P433A	p.A402G			WXS	Illumina GAIIx	Phase_I	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	7	74	---	---	---	---	C	2539121	G	C	2539121	3	2	227	1	0	0	0	0	1	0	0	0	9502	1203	42	4	125	4	METTL4	18	2539121	Missense_Mutation	SNP	G	TCGA-KC-A7FE-01A-12D-A33T-08		2539121	75538127	4	9265										
USP24	23358	broad.mit.edu	37	chr1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-													0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	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)tgtfs		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		Somatic				USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs	p.C2510fs	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	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	228	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	9266										
TGFBR3	7049	broad.mit.edu	37	chr1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	tttgggttgaaggtactcagCaaggtaattgagtgagagaa	14	3	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	53	101	---	---	---	---	T	92195471	C	T	92195471	3	4	228	1	0	0	0	0	1	0	0	0	15820	710	25	2	1975	2	TGFBR3	1	92195471	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	36656940	92195471	157055150	2	9267										
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	accaaagaaaaccgaaagccAcaaagccaaaagcaaataaa	5	10	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.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_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		Somatic					p.H124R	NM_003517.2	NP_003508.1	WXS	Illumina GAIIx	Phase_I	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	5	170	---	---	---	---	G	149858895	A	G	149858895	3	3	228	1	0	0	0	0	1	0	0	0	7178	159	6	2	373	2	HIST2H2AC	1	149858895	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	57663424	149858895	99391726	3	9268										
ROBO1	6091	broad.mit.edu	37	chr3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	catcaggtctacttttccgtCcatgtactatacgtaagaaa	6	10	2	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.chr3:78987846C>T	ENST00000464233.1	-	4	517	c.404G>A	c.(403-405)gGa>gAa	p.G135E	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000467549.1_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		Somatic				ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E	p.G96E			WXS	Illumina GAIIx	Phase_I	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	19	26	---	---	---	---	T	78987846	C	T	78987846	3	4	228	1	0	0	0	0	1	0	0	0	13513	855	30	2	4676	2	ROBO1	3	78987846	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		78987846	119034584	4	9269										
LEF1	51176	broad.mit.edu	37	chr4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	acattcgctctcatttctttCatgtataacataaaagcatt	3	9	3	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.chr4:108999454C>T	ENST00000265165.1	-	8	1584	c.930G>A	c.(928-930)atG>atA	p.M310I	LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000379951.2_Missense_Mutation_p.M282I	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	195	266	---	---	---	---	T	108999454	C	T	108999454	3	4	228	1	0	0	0	0	1	0	0	0	8714	826	29	2	369	2	LEF1	4	108999454	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		108999454	82154822	5	9270										
CAMK2D	817	broad.mit.edu	37	chr4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gaactatgccatttaggtgaCaatgattaacactttctaga	7	7	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.chr4:114469847C>A	ENST00000342666.5	-	6	379	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000454265.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron			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		Somatic				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_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F	p.C127F			WXS	Illumina GAIIx	Phase_I	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	28	39	---	---	---	---	A	114469847	C	A	114469847	3	1	228	1	0	0	0	0	1	0	0	0	2601	478	17	3	1266	3	CAMK2D	4	114469847	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	5470393	114469847	76684429	6	9271										
DAB2	1601	broad.mit.edu	37	chr5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	actggagatgtccttgggagGgccagctctgggaggtggct	18	8	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.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_ENST00000509337.1_Missense_Mutation_p.P607S|DAB2_ENST00000545653.1_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		Somatic	OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S	p.P607S	NM_001244871.1	NP_001231800.1	WXS	Illumina GAIIx	Phase_I	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	7	182	---	---	---	---	A	39377007	G	A	39377007	3	1	228	1	0	0	0	0	1	0	0	0	4218	1232	43	2	442	2	DAB2	5	39377007	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		39377007	141538253	7	9272										
IL6ST	3572	broad.mit.edu	37	chr5	55259975	55259975	+	Splice_Site	DEL	T	T	-													0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	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_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|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	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.(655-657)aaa>aa		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			Somatic				IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron	p.K219fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	WXS	Illumina GAIIx	Phase_I	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.657delA	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	228	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	8	9273										
YTHDC2	64848	broad.mit.edu	37	chr5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	caaatatgcaaacatccgatCaaaagaaagtattaaaaaac	4	7	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.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*		Somatic				YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	p.Q670*	NM_022828.3	NP_073739.3	WXS	Illumina GAIIx	Phase_I	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	19	26	---	---	---	---	T	112889507	C	T	112889507	4	4	228	1	0	0	0	0	0	1	0	0	17494	827	29	2	2066	2	YTHDC2	5	112889507	Nonsense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	57629532	112889507	68025753	9	9274										
IRF4	3662	broad.mit.edu	37	chr6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA													0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	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)caafs		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		Somatic				IRF4_ENST00000495137.1_3'UTR	p.Q193fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	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	228	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	10	9275										
KIF13A	63971	broad.mit.edu	37	chr6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	attatgaacatttggtgtacTgaggctcctccgaatgtgcc	10	9	0	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.chr6:17777528T>C	ENST00000259711.6	-	34	4255	c.4150A>G	c.(4150-4152)Agt>Ggt	p.S1384G	KIF13A_ENST00000378814.5_Missense_Mutation_p.S1371G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G	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		Somatic				KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G	p.S1371G	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	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	9	17	---	---	---	---	C	17777528	T	C	17777528	3	2	228	1	0	0	0	0	1	0	0	0	8274	1580	55	2	1316	2	KIF13A	6	17777528	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	17380336	17777528	153337539	11	9276										
DEF6	50619	broad.mit.edu	37	chr6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	aaagcgctgcatgttctgtgTgaagacagccaaccgcacgt	11	11	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.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.V28G	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		Somatic				DEF6_ENST00000542066.1_Missense_Mutation_p.V28G|DEF6_ENST00000468102.1_3'UTR	p.V283G	NM_022047.3	NP_071330.3	WXS	Illumina GAIIx	Phase_I	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	20	26	---	---	---	---	G	35285708	T	G	35285708	3	3	228	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	12	9277										
DNAH8	1769	broad.mit.edu	37	chr6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	tcaaaagagaattacaaataTtatcgagtacctgacatatg	6	6	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.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T			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		Somatic				RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T	p.I3736T			WXS	Illumina GAIIx	Phase_I					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	24	33	---	---	---	---	C	38906615	T	C	38906615	3	2	228	1	0	0	0	0	1	0	0	0	4607	1493	52	2	11505	2	DNAH8	6	38906615	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	3620907	38906615	132208452	13	9278										
KIAA1244	57221	broad.mit.edu	37	chr6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	tcttgtgcatggaggccatcCtcagcgtaggcctggagatg	14	10	2	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.chr6:138611047C>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		Somatic					p.L997V	NM_020340.4	NP_065073.3	WXS	Illumina GAIIx	Phase_I	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	39	59	---	---	---	---	G	138611047	C	G	138611047	3	3	228	1	0	0	0	0	1	0	0	0	8217	681	24	4	3059	4	KIAA1244	6	138611047	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	99704432	138611047	32504020	14	9279										
UTRN	7402	broad.mit.edu	37	chr6	144837472	144837472	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ttagaaaatgacatagaaaaTatgttaaaatttgtggaaaa	7	1	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.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			Somatic					p.N1784N	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	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	45	63	---	---	---	---	C	144837472	T	C	144837472	2	2	228	1	0	0	0	0	0	0	0	1	17100	1403	49	2		2	UTRN	6	144837472	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	6226425	144837472	26277595	15	9280										
RUNX1T1	862	broad.mit.edu	37	chr8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	aggcaggccattgggctggtAggataagccgttatttggac	15	7	0	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.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H	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		Somatic				RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_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	WXS	Illumina GAIIx	Phase_I	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	41	82	---	---	---	---	G	93004008	A	G	93004008	3	3	228	1	0	0	0	0	1	0	0	0	13747	420	15	2	988	2	RUNX1T1	8	93004008	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		93004008	53360014	16	9281										
VLDLR	7436	broad.mit.edu	37	chr9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-													0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	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	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	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																																						ENST00000382100.3																			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)tgtfs		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		Somatic				VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	p.C285fs	NM_003383.3	NP_003374.3	WXS	Illumina GAIIx	Phase_I	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	6	1209_1210	+						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	228	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	17	9282										
SEPHS1	22929	broad.mit.edu	37	chr10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gggttttgtcagcaccagcaCgtcccctggcactgcattgt	11	13	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.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M|SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M	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		Somatic				SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M	p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	WXS	Illumina GAIIx	Phase_I	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	8	15	---	---	---	---	T	13371763	C	T	13371763	3	4	228	1	0	0	0	0	1	0	0	0	14054	536	19	2	608	2	SEPHS1	10	13371763	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		13371763	122162984	18	9283										
C1S	716	broad.mit.edu	37	chr12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	agcagctgactcagcgggaaActgccttgacagtttagttg	12	9	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.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S			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		Somatic				C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S	p.N233S			WXS	Illumina GAIIx	Phase_I	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	45	88	---	---	---	---	G	7172584	A	G	7172584	3	3	228	1	0	0	0	0	1	0	0	0	1974	43	2	2	716	2	C1S	12	7172584	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		7172584	126679311	19	9284										
WSB2	55884	broad.mit.edu	37	chr12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	cttggtaagttgttaggaaaCttcgaagggctttccggcat	12	7	0	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.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T|WSB2_ENST00000536738.1_5'Flank|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		Somatic				WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|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	WXS	Illumina GAIIx	Phase_I	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	91	165	---	---	---	---	G	118472080	C	G	118472080	3	3	228	1	0	0	0	0	1	0	0	0	17402	565	20	4	82	4	WSB2	12	118472080	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	111299496	118472080	15379815	20	9285										
TRPC4	7223	broad.mit.edu	37	chr13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ccctttcgtttcttcataatAgaagtacaattgatttaggc	6	8	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.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H			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		Somatic				TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H	p.Y540H			WXS	Illumina GAIIx	Phase_I	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	3	74	---	---	---	---	G	38237623	A	G	38237623	3	3	228	1	0	0	0	0	1	0	0	0	16577	420	15	2	1354	2	TRPC4	13	38237623	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		38237623	76932255	21	9286										
NALCN	259232	broad.mit.edu	37	chr13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ccgcatttgcttcactttgcTttaactaaagaaaaattgga	6	8	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.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		Somatic					p.K615T	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	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	8	250	---	---	---	---	G	101797243	T	G	101797243	3	3	228	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	22	9287										
EDDM3A	10876	broad.mit.edu	37	chr14	21215868	21215868	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	cattacttaagtccaagtcgAgaattcaaagagtacaaatg	7	7	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.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			Somatic					p.R43R	NM_006683.4	NP_006674.2	WXS	Illumina GAIIx	Phase_I	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	44	87	---	---	---	---	G	21215868	A	G	21215868	2	3	228	1	0	0	0	0	0	0	0	1	4909	291	11	2		2	EDDM3A	14	21215868	Silent	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		21215868	86133672	23	9288										
CCPG1	9236	broad.mit.edu	37	chr15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	catatggaggggaaaaagtgTgaccaaagaagtgtctatat	12	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.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|DYX1C1-CCPG1_ENST00000565113.1_RNA	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		Somatic				DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R	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	WXS	Illumina GAIIx	Phase_I	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	23	3	---	---	---	---	C	55651764	T	C	55651764	3	2	228	1	0	0	0	0	1	0	0	0	2938	1696	59	2	70	2	CCPG1	15	55651764	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		55651764	46879628	24	9289										
ISLR2	57611	broad.mit.edu	37	chr15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	actgcctgccaacgtgacgaCgcttagtctgtccgcgaaca	10	14	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.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_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		Somatic				ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M	p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina GAIIx	Phase_I	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	70	80	---	---	---	---	T	74425259	C	T	74425259	3	4	228	1	0	0	0	0	1	0	0	0	7859	536	19	2	166	2	ISLR2	15	74425259	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	18773495	74425259	28106133	25	9290										
CHRNB4	1143	broad.mit.edu	37	chr15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	cgctggtgacgatggagaagGtgaccagcaccatggtgaac	15	9	0	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.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|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		Somatic				CHRNB4_ENST00000412074.2_Intron	p.T307I	NM_000750.3	NP_000741.1	WXS	Illumina GAIIx	Phase_I	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	37	55	---	---	---	---	A	78921727	G	A	78921727	3	1	228	1	0	0	0	0	1	0	0	0	3393	1261	44	2	584	2	CHRNB4	15	78921727	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4496468	78921727	23609665	26	9291										
CCDC135	84229	broad.mit.edu	37	chr16	57738847	57738847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	accatcaaaccccccagggaCctgtgcagcaggtttgagca	10	14	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			Somatic				CCDC135_ENST00000336825.8_Silent_p.D188D|CCDC135_ENST00000394337.4_Silent_p.D253D	p.D253D			WXS	Illumina GAIIx	Phase_I	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	28	63	---	---	---	---	T	57738847	C	T	57738847	2	4	228	1	0	0	0	0	0	0	0	1	2769	506	18	2		2	CCDC135	16	57738847	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		57738847	32615906	27	9292										
ZZEF1	23140	broad.mit.edu	37	chr17	3959636	3959636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	agctcatcttcttcactccaTtggctgaaagaaggacataa	7	10	4	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.chr17:3959636T>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			Somatic					p.Q1723Q	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	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	31	48	---	---	---	---	C	3959636	T	C	3959636	2	2	228	1	0	0	0	0	0	0	0	1	18252	1490	52	2		2	ZZEF1	17	3959636	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		3959636	77235574	28	9293										
CDK12	51755	broad.mit.edu	37	chr17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	agccacctccatccaaaactTctcgaaaagaaactacctca	3	15	2	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.chr17:37681027T>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)	Somatic				CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	71	135	---	---	---	---	C	37681027	T	C	37681027	3	2	228	1	0	0	0	0	1	0	0	0	3128	1783	62	2	3242	2	CDK12	17	37681027	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	33721391	37681027	43514183	29	9294										
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	cattcaggatggagaatttgAattttgcccgaacttcactc	8	9	2	2	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_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000513080.1_5'Flank|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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	53	58	---	---	---	---	C	47696643	A	C	47696643	3	2	228	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	10015616	47696643	33498567	30	9295										
HAUS1	115106	broad.mit.edu	37	chr18	43685267	43685267	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ctttcagaacgcaacagggtCcgggacagggatgtctacct	12	11	2	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.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Silent_p.V46V	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			Somatic				HAUS1_ENST00000585518.1_Silent_p.V46V	p.V46V	NM_138443.3	NP_612452.1	WXS	Illumina GAIIx	Phase_I	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	23	13	---	---	---	---	T	43685267	C	T	43685267	2	4	228	1	0	0	0	0	0	0	0	1	6965	842	30	2		2	HAUS1	18	43685267	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		43685267	34391981	31	9296										
SMAD4	4089	broad.mit.edu	37	chr18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gctgccctattgttactgttGatggatacgtggacccttct	10	10	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.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		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y	p.D351Y	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	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	4	62	---	---	---	---	T	48591888	G	T	48591888	3	4	228	1	0	0	0	0	1	0	0	0	14760	1290	45	3	1081	3	SMAD4	18	48591888	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4906621	48591888	29485360	32	9297			1	17		2	2	14	N	G_A	1.637755e-05
SMAD4	4089	broad.mit.edu	37	chr18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	tactgttgatggatacgtggAcccttctggaggagatcgct	13	8	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.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		Somatic				SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V	p.D355V	NM_005359.5	NP_005350.1	WXS	Illumina GAIIx	Phase_I	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	37	25	---	---	---	---	T	48591901	A	T	48591901	3	4	228	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	33	9298			1	17		2	2	14	N	G_A	1.637755e-05
CEACAM16	388551	broad.mit.edu	37	chr19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gcgccttatgtgcagcagccCcagccccaccgccgaggtcc	11	19	0	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.chr19:45207372C>G	ENST00000405314.2	+	3	564	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CEACAM16_ENST00000587331.1_Missense_Mutation_p.P156R|CTB-171A8.1_ENST00000590796.1_RNA			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		Somatic				CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R	p.P156R	NM_001039213.2	NP_001034302.2	WXS	Illumina GAIIx	Phase_I	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	7	16	---	---	---	---	G	45207372	C	G	45207372	3	3	228	1	0	0	0	0	1	0	0	0	3188	623	22	4	477	4	CEACAM16	19	45207372	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		45207372	13921611	34	9299										
OPA3	7408	broad.mit.edu	37	chr19	46032604	46032604	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gatgaagatgatgccctcgcCcagcagctccgcgcccagct	11	16	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.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			Somatic					p.G85C	NM_001017989.2	NP_001017989.2	WXS	Illumina GAIIx	Phase_I	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	111	118	---	---	---	---	A	46032604	C	A	46032604	1	1	228	0	1	0	0	0	0	0	0	0	10872	623	22	1		1	OPA3	19	46032604	IGR	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	825232	46032604	13096379	35	9300										
KLK3	354	broad.mit.edu	37	chr19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	cccaaccctggcaggtgcttGtggcctctcgtggcagggca	14	14	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.chr19:51359573G>C	ENST00000326003.2	+	2	165	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000360617.3_Missense_Mutation_p.V42L|KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_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		Somatic				KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L	p.V42L			WXS	Illumina GAIIx	Phase_I	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	7	224	---	---	---	---	C	51359573	G	C	51359573	3	2	228	1	0	0	0	0	1	0	0	0	8405	1377	48	4	130	4	KLK3	19	51359573	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	5326969	51359573	7769410	36	9301										
SIGLEC1	6614	broad.mit.edu	37	chr20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ggtgacagagcgagcagggtCctggccttgccactgcagtc	15	12	0	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.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		Somatic				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	p.D179N	NM_023068.3	NP_075556.1	WXS	Illumina GAIIx	Phase_I	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	77	117	---	---	---	---	T	3686562	C	T	3686562	3	4	228	1	0	0	0	0	1	0	0	0	14305	855	30	2	4670	2	SIGLEC1	20	3686562	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		3686562	59338958	37	9302										
MMP9	4318	broad.mit.edu	37	chr20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	ccctcctcctgcagtggttcCaactcggtttggaaacgcag	10	14	0	0	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		Somatic					p.P219Q	NM_004994.2	NP_004985.2	WXS	Illumina GAIIx	Phase_I	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	176	308	---	---	---	---	A	44639788	C	A	44639788	3	1	228	1	0	0	0	0	1	0	0	0	9669	594	21	1	674	1	MMP9	20	44639788	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	40953226	44639788	18385732	38	9303										
DDX17	10521	broad.mit.edu	37	chr22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	1.03484848484848	0	1.41115702479339	0.4	1	0	gttttggattgatagcctgaTtggcctcttccagcactttg	10	9	1	2	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_ENST00000381633.3_Missense_Mutation_p.N464S|DDX17_ENST00000444597.1_5'UTR|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		Somatic				DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	p.N541S	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	WXS	Illumina GAIIx	Phase_I	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	77	103	---	---	---	---	C	38883946	T	C	38883946	3	2	228	1	0	0	0	0	1	0	0	0	4344	1493	52	2	581	2	DDX17	22	38883946	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		38883946	12420620	39	9304										
CLCNKB	1188	broad.mit.edu	37	chr1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaatcttctttggcttcatcAggaacaataggttcagctcc	8	10	5	0			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		Somatic				CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	p.R311W	NM_000085.4	NP_000076.2	WXS	Illumina GAIIx	Phase_I				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	38	79	---	---	---	---	T	16376374	A	T	16376374	3	4	229	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	9305										
EGFR	1956	broad.mit.edu	37	chr7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcgtgcgtccgagcctgtGgggccgacagctatgagatg	16	11	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.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W	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)	Somatic				EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W	p.G312W	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	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	65	61	---	---	---	---	T	55223567	G	T	55223567	3	4	229	1	0	0	0	0	1	0	0	0	4967	1348	47	1	964	1	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		55223567	103915096	2	9306										
DHTKD1	55526	broad.mit.edu	37	chr10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggacatctggtgaacatggCctctgctactgcggcagcag	14	11	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		Somatic					p.A2V	NM_018706.5	NP_061176	WXS	Illumina GAIIx	Phase_I	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	11	11	---	---	---	---	T	12111037	C	T	12111037	3	4	229	1	0	0	0	0	1	0	0	0	4500	739	26	2	7	2	DHTKD1	10	12111037	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		12111037	123423710	3	9307										
MYOF	26509	broad.mit.edu	37	chr10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tgtctgtgagaaggcatcatCcactggaaggtaatagttat	11	6	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.chr10:95159250C>T	ENST00000359263.4	-	13	1119	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000371502.4_Missense_Mutation_p.D374N|MYOF_ENST00000371501.4_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000371489.1_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		Somatic				MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N	p.D374N			WXS	Illumina GAIIx	Phase_I	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	4	8	---	---	---	---	T	95159250	C	T	95159250	3	4	229	1	0	0	0	0	1	0	0	0	10089	855	30	2	5233	2	MYOF	10	95159250	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	83048213	95159250	40375497	4	9308										
GRIN2B	2904	broad.mit.edu	37	chr12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tctcgtcaaactccctgcggGacttggccgaggcaggccgc	13	15	2	0			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																																						ENST00000609686.1																			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		Somatic					p.S1098F	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	3502	-								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	13	38	---	---	---	---	A	13716879	G	A	13716879	3	1	229	1	0	0	0	0	1	0	0	0	6780	1174	41	2	1165	2	GRIN2B	12	13716879	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		13716879	120135016	5	9309										
ALKBH1	8846	broad.mit.edu	37	chr14	78174327	78174327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agagtcgccacagagcccacGgccgctgccatcttccccat	9	18	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.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557431.1_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			Somatic					p.A7A	NM_006020.2	NP_006011.2	WXS	Illumina GAIIx	Phase_I	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	23	28	---	---	---	---	A	78174327	G	A	78174327	2	1	229	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	6	9310										
MTMR15	22909	broad.mit.edu	37	chr15	31197979	31197979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtcctggtcaaacaaccggTcatccttactaccttcggag	9	13	2	0			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_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G|FAN1_ENST00000561594.1_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			Somatic				FAN1_ENST00000561594.1_Silent_p.G371G|FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G	p.G371G	NM_014967.4	NP_055782.3	WXS	Illumina GAIIx	Phase_I	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	8	86	---	---	---	---	C	31197979	T	C	31197979	2	2	229	1	0	0	0	0	0	0	0	1	9943	1654	58	2		2	MTMR15	15	31197979	Silent	SNP	T	TCGA-KK-A59Y-01A-11D-A26M-08		31197979	71333413	7	9311										
NTN5	126147	broad.mit.edu	37	chr19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ataggctggctagggtccctCcagaacccaggttggcagta	13	11	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.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		Somatic				SEC1P_ENST00000430145.2_RNA	p.W259C	NM_145807.1	NP_665806.1	WXS	Illumina GAIIx	Phase_I	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	3	25	---	---	---	---	A	49167879	C	A	49167879	3	1	229	1	0	0	0	0	1	0	0	0	10703	856	30	3	712	3	NTN5	19	49167879	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		49167879	9961104	8	9312										
CHD6	84181	broad.mit.edu	37	chr20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA													0	0	1	0	NA	0	1	1	0	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_ENST00000309279.7_In_Frame_Ins_p.243_244insLK|CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK	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)cgc>cTAAAGCgc		chromodomain helicase DNA binding protein 6																																				SO:0001652	inframe_insertion	84181				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		Somatic				CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244insLK|CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK	p.243_244insLK	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	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	229	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	9	9313										
PLEKHA6	22874	broad.mit.edu	37	chr1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gcagcgatccaccaggacgaAccagcgcttgttccactgct	10	15	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.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		Somatic				PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	p.F82L	NM_014935.4	NP_055750.2	WXS	Illumina GAIIx	Phase_I	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	17	55	---	---	---	---	G	204236639	A	G	204236639	3	3	230	1	0	0	0	0	1	0	0	0	12060	43	2	2	2974	2	PLEKHA6	1	204236639	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		204236639	45013982	1	9314										
OR2T35	403244	broad.mit.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	17	4	0	4	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			Somatic					p.V216V	NM_001001827.1	NP_001001827.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	G	248801912	C	G	248801912	2	3	230	1	0	0	0	0	0	0	0	1	11026	465	17	4		4	OR2T35	1	248801912	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	44565273	248801912	448709	2	9315										
LRRFIP1	9208	broad.mit.edu	37	chr2	238668784	238668784	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ctcaataatgttggataccaAggtcctaccaagatgacaaa	7	9	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.chr2:238668784A>G	ENST00000392000.4	+	10	942	c.825A>G	c.(823-825)caA>caG	p.Q275Q	LRRFIP1_ENST00000244815.5_Silent_p.Q251Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q	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			Somatic				LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q	p.Q251Q	NM_004735.3	NP_004726.2	WXS	Illumina GAIIx	Phase_I	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	20	45	---	---	---	---	G	238668784	A	G	238668784	2	3	230	1	0	0	0	0	0	0	0	1	9027	69	3	2		2	LRRFIP1	2	238668784	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		238668784	4530589	3	9316										
METTL6	131965	broad.mit.edu	37	chr3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tacctctctacatgatcttaGctcctcaaactctctggtgg	6	13	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.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|EAF1_ENST00000432764.2_5'Flank|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V			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		Somatic				METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V	p.L70V			WXS	Illumina GAIIx	Phase_I	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	9	51	---	---	---	---	C	15467811	G	C	15467811	3	2	230	1	0	0	0	0	1	0	0	0	9504	962	34	4	666	4	METTL6	3	15467811	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		15467811	182554619	4	9317										
C3orf17	25871	broad.mit.edu	37	chr3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gaccacttacttacttggaaGaaaacaactcaaacaggtct	6	10	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.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F|C3orf17_ENST00000472762.1_5'Flank	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		Somatic				C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	p.S112F	NM_015412.3	NP_056227.2	WXS	Illumina GAIIx	Phase_I	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	84	133	---	---	---	---	A	112732806	G	A	112732806	3	1	230	1	0	0	0	0	1	0	0	0	2210	942	33	2	1396	2	C3orf17	3	112732806	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	97264995	112732806	85289624	5	9318										
TF	7018	broad.mit.edu	37	chr3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gagccctgctggtctgcgccGtcctgggtgagtgcgggcac	17	13	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.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		Somatic				TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	p.V13I	NM_001063.3	NP_001054	WXS	Illumina GAIIx	Phase_I	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	3	25	---	---	---	---	A	133465321	G	A	133465321	3	1	230	1	0	0	0	0	1	0	0	0	15782	1145	40	2	39	2	TF	3	133465321	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	20732515	133465321	64557109	6	9319										
TFDP2	7029	broad.mit.edu	37	chr3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gttgctaaggccacttctgcAtccaagcataacccttggtt	8	12	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.chr3:141671514A>T	ENST00000489671.1	-	13	1612	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000499676.2_Missense_Mutation_p.D334E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E			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		Somatic				TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E	p.D334E	NM_001178139.1	NP_001171610.1	WXS	Illumina GAIIx	Phase_I	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	4	53	---	---	---	---	T	141671514	A	T	141671514	3	4	230	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	7	9320										
POU4F2	5458	broad.mit.edu	37	chr4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gtcccacaataatatgatcgCgctcaaacccatcctgcagg	7	14	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.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		Somatic					p.A314G	NM_004575.2	NP_004566.2	WXS	Illumina GAIIx	Phase_I	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	18	71	---	---	---	---	G	147561671	C	G	147561671	3	3	230	1	0	0	0	0	1	0	0	0	12279	768	27	4	947	4	POU4F2	4	147561671	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		147561671	43592605	8	9321										
PCDHGA9	56107	broad.mit.edu	37	chr5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acctggtcctcacggcctcgGatggcggcgagccgcgtcgc	15	16	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.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_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	56107							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		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D216Y	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	WXS	Illumina GAIIx	Phase_I			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	10	52	---	---	---	---	T	140783165	G	T	140783165	3	4	230	1	0	0	0	0	1	0	0	0	11561	1174	41	3	648	3	PCDHGA9	5	140783165	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		140783165	40132095	9	9322										
SYNE1	23345	broad.mit.edu	37	chr6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ttccaggatcttctcctggtCctgggccacagctcgaaggc	11	14	2	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.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	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	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)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H	p.D5201H	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	78	79	---	---	---	---	G	152646275	C	G	152646275	3	3	230	1	0	0	0	0	1	0	0	0	15442	855	30	4	11129	4	SYNE1	6	152646275	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		152646275	18468792	10	9323										
EPDR1	54749	broad.mit.edu	37	chr7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acagccgcgccctgctctccTacgacgggctcaaccagcgc	10	19	2	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.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N	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		Somatic				EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	p.Y69N	NM_017549.4	NP_060019.2	WXS	Illumina GAIIx	Phase_I	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	14	38	---	---	---	---	A	37960746	T	A	37960746	3	1	230	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	11	9324										
TARP	6966	broad.mit.edu	37	chr7	38299789	38299789	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tgaggagcaggaggaggtacAtgtaatatgcagaggtgttt	16	3	0	2	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			6966							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			Somatic						NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	WXS	Illumina GAIIx	Phase_I					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	3	21	---	---	---	---	G	38299789	A	G	38299789	1	3	230	0	1	0	0	0	0	0	0	0	15555	217	8	2		2	TARP	7	38299789	RNA	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	339043	38299789	120838874	12	9325										
CCDC136	64753	broad.mit.edu	37	chr7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gatccacgaagagctgcgacGtttcaaagagtctcatttcc	9	11	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		Somatic				CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	p.R648H	NM_022742.4	NP_073579	WXS	Illumina GAIIx	Phase_I	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	8	46	---	---	---	---	A	128450335	G	A	128450335	3	1	230	1	0	0	0	0	1	0	0	0	2770	1145	40	2	1989	2	CCDC136	7	128450335	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	90150546	128450335	30688328	13	9326										
SLC7A2	6542	broad.mit.edu	37	chr8	17418005	17418005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tcccttctgccaacacagcaGtcagcttctctcgtgagctt	7	15	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.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_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q	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			Somatic				SLC7A2_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q	p.Q528Q			WXS	Illumina GAIIx	Phase_I	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	59	42	---	---	---	---	A	17418005	G	A	17418005	2	1	230	1	0	0	0	0	0	0	0	1	14697	1020	36	2		2	SLC7A2	8	17418005	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		17418005	128946017	14	9327										
XPO7	23039	broad.mit.edu	37	chr8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ctgcatcattggtgtcacaaTtttatctcagctaaccaatg	6	10	3	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.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		Somatic				XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S	p.I154S			WXS	Illumina GAIIx	Phase_I	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	42	30	---	---	---	---	G	21829421	T	G	21829421	3	3	230	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	15	9328										
ADAM28	10863	broad.mit.edu	37	chr8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-													0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	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_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	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)tatcctataagacttcatccactgcat>tat		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		Somatic				ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.PIRLHPLH33del	NM_014265.4	NP_055080.2	WXS	Illumina GAIIx	Phase_I	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)	33					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	230	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	16	9329										
CUL2	8453	broad.mit.edu	37	chr10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tagaacatatatttgaaaacTaattcccaaatctattactg	3	7	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.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374751.3_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		Somatic				CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R	p.S506R			WXS	Illumina GAIIx	Phase_I	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	8	15	---	---	---	---	G	35318439	T	G	35318439	3	3	230	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	17	9330										
CYP2C8	1558	broad.mit.edu	37	chr10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gtgaacacaggaccatagacTtttgagaactgggaaaggaa	12	6	0	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_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	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		Somatic				CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	p.K59N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	WXS	Illumina GAIIx	Phase_I	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	12	16	---	---	---	---	G	96827440	T	G	96827440	3	3	230	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	18	9331										
OR4A15	81328	broad.mit.edu	37	chr11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	cttcctgtgtgatttgtatcCcttattgaaacttgcttgca	7	9	0	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.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		Somatic					p.P211H	NM_001005275.1	NP_001005275.1	WXS	Illumina GAIIx	Phase_I	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	16	85	---	---	---	---	A	55135991	C	A	55135991	3	1	230	1	0	0	0	0	1	0	0	0	11040	623	22	1	634	1	OR4A15	11	55135991	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		55135991	79870525	19	9332										
OR5D13	390142	broad.mit.edu	37	chr11	55541087	55541087	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	agactcaattcaaaactccaTacaatcatgtgctttttcct	3	11	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.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			Somatic					p.H58H	NM_001001967.1	NP_001001967.1	WXS	Illumina GAIIx	Phase_I	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	5	92	---	---	---	---	C	55541087	T	C	55541087	2	2	230	1	0	0	0	0	0	0	0	1	11154	1403	49	2		2	OR5D13	11	55541087	Silent	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	405096	55541087	79465429	20	9333										
SYT7	9066	broad.mit.edu	37	chr11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ccagtggcagaggccgcagaGgacgacagtgacgctaaggc	16	11	0	3	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_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_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		Somatic				SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	p.L34V	NM_004200.3	NP_004191.2	WXS	Illumina GAIIx	Phase_I	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	13	23	---	---	---	---	C	61323611	G	C	61323611	3	2	230	1	0	0	0	0	1	0	0	0	15476	1000	35	4	1143	4	SYT7	11	61323611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5782524	61323611	73682905	21	9334										
PPFIBP1	8496	broad.mit.edu	37	chr12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tgatgaaggacgggttgatgGtcgaatgctacattacatga	13	5	0	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.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V	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		Somatic				PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V	p.G747V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	WXS	Illumina GAIIx	Phase_I	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	35	77	---	---	---	---	T	27835611	G	T	27835611	3	4	230	1	0	0	0	0	1	0	0	0	12313	1261	44	3	2350	3	PPFIBP1	12	27835611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		27835611	106016284	22	9335										
SYT10	341359	broad.mit.edu	37	chr12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acgtgcatgtttaattaaatGttcttttaaagcagtttgga	8	4	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.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		Somatic				SYT10_ENST00000535526.1_5'UTR	p.H151Y	NM_198992.3	NP_945343.1	WXS	Illumina GAIIx	Phase_I	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	64	68	---	---	---	---	A	33579131	G	A	33579131	3	1	230	1	0	0	0	0	1	0	0	0	15463	1377	48	2	1144	2	SYT10	12	33579131	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5743520	33579131	100272764	23	9336										
WIF1	11197	broad.mit.edu	37	chr12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tttctcacagtgaggtccgtGgaacccatcaggacactcgc	10	13	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.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		Somatic					p.H205N	NM_007191.4	NP_009122.2	WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	T	65461496	G	T	65461496	3	4	230	1	0	0	0	0	1	0	0	0	17363	1348	47	1	550	1	WIF1	12	65461496	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	31882365	65461496	68390399	24	9337										
C12orf24	29902	broad.mit.edu	37	chr12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acagcattacccttgcactaCatggcgacatcaactggaga	8	12	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.chr12:110924408C>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		Somatic					p.T169I	NM_013300.2	NP_037432.2	WXS	Illumina GAIIx	Phase_I	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	66	93	---	---	---	---	T	110924408	C	T	110924408	3	4	230	1	0	0	0	0	1	0	0	0	1678	478	17	2	524	2	C12orf24	12	110924408	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	45462912	110924408	22927487	25	9338										
TUBA3C	7278	broad.mit.edu	37	chr13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	aggtcctcgcgggcctcagaGaactccccctcctccatgcc	9	19	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.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		Somatic					p.F418L	NM_006001.2	NP_005992.1	WXS	Illumina GAIIx	Phase_I	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	16	211	---	---	---	---	T	19748102	G	T	19748102	3	4	230	1	0	0	0	0	1	0	0	0	16743	933	33	3	102	3	TUBA3C	13	19748102	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		19748102	95421776	26	9339										
SACS	26278	broad.mit.edu	37	chr13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-													0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	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)gtccttfs		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		Somatic				SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	p.VL1016fs	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	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	230	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	4166862	23914964	91254914	27	9340										
PIBF1	10464	broad.mit.edu	37	chr13	73396007	73396007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acatatgaggaagatcgaaaAaactactctgaagttcaaat	7	6	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.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			Somatic					p.K231K	NM_006346.2	NP_006337.2	WXS	Illumina GAIIx	Phase_I	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	11	7	---	---	---	---	G	73396007	A	G	73396007	2	3	230	1	0	0	0	0	0	0	0	1	11879	11	1	2		2	PIBF1	13	73396007	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	49481043	73396007	41773871	28	9341										
DACT1	51339	broad.mit.edu	37	chr14	59112126	59112126	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gtgtgatctggtgtctaaaaAcgggaatgatgtatatcgct	12	5	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.chr14:59112126A>T	ENST00000335867.4	+	4	809	c.785A>T	c.(784-786)aAc>aTc	p.N262I	DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000555845.1_3'UTR			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																																						ENST00000541264.2																			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		Somatic				DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I				WXS	Illumina GAIIx	Phase_I	Q9NYF0	DACT1_HUMAN			0	755	+								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	9	66	---	---	---	---	T	59112126	A	T	59112126	3	4	230	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	29	9342										
MTA1	9112	broad.mit.edu	37	chr14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	aaaccaagcgtgctgcccgcCggccctacaagcccatcgcc	9	19	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.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	MTA1_ENST00000405646.1_Missense_Mutation_p.R666W|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|CRIP2_ENST00000483017.3_5'Flank|RP11-521B24.5_ENST00000552675.1_RNA	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		Somatic				MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W	p.R683W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	WXS	Illumina GAIIx	Phase_I	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	5	106	---	---	---	---	T	105936451	C	T	105936451	3	4	230	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	30	9343										
SLC24A5	283652	broad.mit.edu	37	chr15	48431347	48431347	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	atatccgcatttacatatatCctggtttggatggtcacaat	7	8	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.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			Somatic				SLC24A5_ENST00000449382.2_Silent_p.I291I	p.I351I	NM_205850.2	NP_995322.1	WXS	Illumina GAIIx	Phase_I	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	17	13	---	---	---	---	A	48431347	C	A	48431347	2	1	230	1	0	0	0	0	0	0	0	1	14469	845	30	3		3	SLC24A5	15	48431347	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		48431347	54100045	31	9344										
ITGAM	3684	broad.mit.edu	37	chr16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gctctgcttcctgtttggatCcaacctacggcagcagcccc	9	16	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.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		Somatic				ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	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	17	46	---	---	---	---	T	31277424	C	T	31277424	3	4	230	1	0	0	0	0	1	0	0	0	7887	855	30	2	401	2	ITGAM	16	31277424	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		31277424	59077329	32	9345										
SLC7A5	8140	broad.mit.edu	37	chr16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	gctgtgctcacctggaggatGtgaacagggacccattgacg	14	10	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.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	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		Somatic				SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	p.T345I	NM_003486.5	NP_003477.4	WXS	Illumina GAIIx	Phase_I	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	19	64	---	---	---	---	A	87872329	G	A	87872329	3	1	230	1	0	0	0	0	1	0	0	0	14700	1377	48	2	509	2	SLC7A5	16	87872329	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	56594905	87872329	2482424	33	9346										
KRT16	3868	broad.mit.edu	37	chr17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tctgcatctccaggtcagtcCtggccagggtcagctcatcc	10	15	5	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		Somatic					p.R234T	NM_005557.3	NP_005548.2	WXS	Illumina GAIIx	Phase_I	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	44	68	---	---	---	---	G	39767667	C	G	39767667	3	3	230	1	0	0	0	0	1	0	0	0	8453	681	24	4	744	4	KRT16	17	39767667	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		39767667	41427543	34	9347										
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	12	3	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.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	48	84	---	---	---	---	C	47696425	A	C	47696425	3	2	230	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	35	9348										
KIF19	124602	broad.mit.edu	37	chr17	72340364	72340364	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ccccacctgtcccgtcagatCtacaatgagatgatccggga	9	14	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.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			Somatic					p.I153I	NM_153209.3	NP_694941.2	WXS	Illumina GAIIx	Phase_I	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	32	39	---	---	---	---	A	72340364	C	A	72340364	2	1	230	1	0	0	0	0	0	0	0	1	8282	903	32	3		3	KIF19	17	72340364	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	24643939	72340364	8854846	36	9349										
KDSR	2531	broad.mit.edu	37	chr18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tgaacctagaagccttacctCatttcgtgcaaccagagtta	7	11	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.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		Somatic				KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	p.E66K	NM_002035.2	NP_002026.1	WXS	Illumina GAIIx	Phase_I	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	18	24	---	---	---	---	T	61030014	C	T	61030014	3	4	230	1	0	0	0	0	1	0	0	0	8140	835	29	2	838	2	KDSR	18	61030014	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		61030014	17047234	37	9350										
CAPN12	147968	broad.mit.edu	37	chr19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	acgtctgtgcggctcatgtcTtcacagatgaacttcggctc	10	12	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.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		Somatic				CAPN12_ENST00000601953.1_Intron	p.E90D	NM_144691.3	NP_653292.2	WXS	Illumina GAIIx	Phase_I	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	9	68	---	---	---	---	A	39233710	T	A	39233710	3	1	230	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		39233710	19895273	38	9351										
ARFGEF2	10564	broad.mit.edu	37	chr20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	cattttagaaacatcaacaaGttcttttgagcacaggtgga	8	7	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.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		Somatic					p.S491I	NM_006420.2	NP_006411.2	WXS	Illumina GAIIx	Phase_I	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	12	22	---	---	---	---	T	47588909	G	T	47588909	3	4	230	1	0	0	0	0	1	0	0	0	853	1029	36	3	1514	3	ARFGEF2	20	47588909	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		47588909	15436611	39	9352										
RTDR1	27156	broad.mit.edu	37	chr22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	ggccttgcggccctcgggggCctctgccagcatggtaaggg	17	13	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.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		Somatic					p.A302S	NM_014433.2	NP_055248.1	WXS	Illumina GAIIx	Phase_I	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	32	136	---	---	---	---	A	23401783	C	A	23401783	3	1	230	1	0	0	0	0	1	0	0	0	13719	739	26	3	146	3	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		23401783	27902783	40	9353										
MAP7D2	256714	broad.mit.edu	37	chrX	20060693	20060693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0487804878048781	2	1	0.889254385964912	0	1.42280701754386	0.428571428571429	1	0	tcttctcagaggggacccgaAgttcacaacaggaagagaag	12	9	3	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_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|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		Somatic				MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L	p.F271L	NM_152780.3	NP_689993.2	WXS	Illumina GAIIx	Phase_I	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	6	132	---	---	---	---	G	20060693	A	G	20060693	3	3	230	1	0	0	0	0	1	0	0	0	9268	72	3	2	1423	2	MAP7D2	23	20060693	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		20060693	135209867	41	9354										
CSMD2	114784	broad.mit.edu	37	chr1	34003036	34003036	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tgctccagatgacctctcacCtatgcagctgggctgggtgc	12	13	1	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.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.(9805-9807)Gat>Aat		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			Somatic					p.D3269N	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	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.9805G>A		.	.	.	.	.	.	.	.	.	.	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	5	152	---	---	---	---	T	34003036	C	T	34003036	5	4	231	1	0	0	0	0	0	0	1	0	3945	695	24	2	1130	2	CSMD2	1	34003036	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		34003036	215247585	1	9355										
COL9A2	1298	broad.mit.edu	37	chr1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	acccagaatcccgcgtttgcCcgcatgcccctgaagggaag	11	15	0	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.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		Somatic					p.G196C	NM_001852.3	NP_001843.1	WXS	Illumina GAIIx	Phase_I	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	14	58	---	---	---	---	A	40776809	C	A	40776809	3	1	231	1	0	0	0	0	1	0	0	0	3708	623	22	1	1567	1	COL9A2	1	40776809	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	6773773	40776809	208473812	2	9356										
PIK3R3	8503	broad.mit.edu	37	chr1	46527681	46527681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tgttcttgtgtgtgacactgCtcttcaaatattttaattgt	7	6	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.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000420542.1_Silent_p.E228E	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			Somatic				PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000423209.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000420542.1_Silent_p.E228E	p.E228E	NM_003629.3	NP_003620.3	WXS	Illumina GAIIx	Phase_I	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	17	123	---	---	---	---	T	46527681	C	T	46527681	2	4	231	1	0	0	0	0	0	0	0	1	11920	796	28	2		2	PIK3R3	1	46527681	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	5750872	46527681	202722940	3	9357										
STIL	6491	broad.mit.edu	37	chr1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	aagtcaggtatcttgccatcAcaagggaagcattcataaaa	8	8	4	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.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_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*		Somatic				STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*	p.C319*	NM_001282936.1	NP_001269865.1	WXS	Illumina GAIIx	Phase_I	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	9	32	---	---	---	---	T	47755173	A	T	47755173	4	4	231	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	9358										
FCRL4	83417	broad.mit.edu	37	chr1	157559034	157559034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	acagggttacttcgtggggaGccccgggcctggcatctgta	15	11	1	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.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			Somatic				FCRL4_ENST00000448509.2_5'UTR	p.G89G	NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	A	157559034	G	A	157559034	2	1	231	1	0	0	0	0	0	0	0	1	5797	958	34	2		2	FCRL4	1	157559034	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	109803861	157559034	91691587	5	9359										
ITSN2	50618	broad.mit.edu	37	chr2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	aagaggaatccgtgcagttcCttgttgctcttggtcttgta	11	8	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.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		Somatic				ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	p.K1448N	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	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	4	192	---	---	---	---	A	24432816	C	A	24432816	3	1	231	1	0	0	0	0	1	0	0	0	7927	680	24	1	773	1	ITSN2	2	24432816	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		24432816	218766557	6	9360										
NRXN1	9378	broad.mit.edu	37	chr2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-													0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	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_ENST00000404971.1_Frame_Shift_Del_p.Q692fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs	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)caafs		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		Somatic				NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs	p.Q692fs	NM_001135659.1	NP_001129131.1	WXS	Illumina GAIIx	Phase_I	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	231	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	7	9361										
CTNNB1	1499	broad.mit.edu	37	chr3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	actactgtggaccacaagcaGagtgctgaaggtgctatctg	12	9	1	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_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396185.3_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		Somatic				CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K	p.R342K	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	9	70	---	---	---	---	A	41268787	G	A	41268787	3	1	231	1	0	0	0	0	1	0	0	0	4016	942	33	2	1047	2	CTNNB1	3	41268787	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		41268787	156753643	8	9362										
SFMBT1	51460	broad.mit.edu	37	chr3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	ggcaaactgctcataaaaagCaaacttgatcctctctatgt	6	10	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.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T	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		Somatic				SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	p.A859T	NM_016329.3	NP_057413.2	WXS	Illumina GAIIx	Phase_I	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	11	52	---	---	---	---	T	52939178	C	T	52939178	3	4	231	1	0	0	0	0	1	0	0	0	14157	710	25	2	29	2	SFMBT1	3	52939178	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	11670391	52939178	145083252	9	9363										
GPR87	53836	broad.mit.edu	37	chr3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	gctcctgttgcctgaattgtGactctcttggccgtgcagct	11	12	1	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.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_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	53836					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		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.H21N	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	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	15	64	---	---	---	---	T	151012973	G	T	151012973	3	4	231	1	0	0	0	0	1	0	0	0	6716	1290	45	3	1019	3	GPR87	3	151012973	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	98073795	151012973	47009457	10	9364										
FGFRL1	53834	broad.mit.edu	37	chr4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	gagccgcttccgcgtgctgcCgcaggggctgaaggtgaagc	17	12	0	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.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_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_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		Somatic				FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L	p.P81L			WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	T	1016153	C	T	1016153	3	4	231	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	11	9365										
PCDHB12	56124	broad.mit.edu	37	chr5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	acataaccgtgctggtctccGacgtcaatgacaacgccccc	8	16	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.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	56124				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		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	p.D443N	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	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	15	123	---	---	---	---	A	140589806	G	A	140589806	3	1	231	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	12	9366										
LHFPL5	222662	broad.mit.edu	37	chr6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tgaaattgctgccggcccagGaggcagccaagatctaccat	11	12	1	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		Somatic				LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	p.E9K	NM_182548.3	NP_872354.1	WXS	Illumina GAIIx	Phase_I	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	13	75	---	---	---	---	A	35773472	G	A	35773472	3	1	231	1	0	0	0	0	1	0	0	0	8768	1175	41	2	27	2	LHFPL5	6	35773472	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		35773472	135341595	13	9367										
MOCS1	4337	broad.mit.edu	37	chr6	39877613	39877613	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	ttcttcctgcccacagcagcCccaatgattctcagcagctc	6	17	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.chr6:39877613C>A	ENST00000340692.5	-	9	1071	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000432280.2_Silent_p.G327G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373186.4_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000308559.7_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			Somatic				MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000432280.2_Silent_p.G327G	p.G356G	NM_005943.5	NP_005934.2	WXS	Illumina GAIIx	Phase_I	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	30	108	---	---	---	---	A	39877613	C	A	39877613	2	1	231	1	0	0	0	0	0	0	0	1	9690	610	22	1		1	MOCS1	6	39877613	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	4104141	39877613	131237454	14	9368										
CSMD1	64478	broad.mit.edu	37	chr8	2832109	2832109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	aacagctctccagtgaggacGgcgttggcagggacccctgg	15	12	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_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|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			Somatic				CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000602557.1_Silent_p.A2869A	p.A2869A			WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	A	2832109	G	A	2832109	2	1	231	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	15	9369										
ZNF623	9831	broad.mit.edu	37	chr8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	ttccccctctcaggacagggGctgcaagcaggtgacagtga	13	12	1	2	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_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_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		Somatic				ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	p.G77V	NM_014789.3	NP_055604	WXS	Illumina GAIIx	Phase_I	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	33	73	---	---	---	---	T	144732272	G	T	144732272	3	4	231	1	0	0	0	0	1	0	0	0	18044	1203	42	3	232	3	ZNF623	8	144732272	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	141900163	144732272	1631750	16	9370										
PLEKHA5	54477	broad.mit.edu	37	chr12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	ggcagctctacgaatggcagCagcgtcagttttataacaaa	10	9	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.chr12:19436440C>T	ENST00000299275.6	+	11	1528	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_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*		Somatic				PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*	p.Q508*	NM_001143821.2	NP_001137293.2	WXS	Illumina GAIIx	Phase_I	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	26	93	---	---	---	---	T	19436440	C	T	19436440	4	4	231	1	0	0	0	0	0	1	0	0	12059	711	25	2	1564	2	PLEKHA5	12	19436440	Nonsense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		19436440	114415455	17	9371										
FLT3	2322	broad.mit.edu	37	chr13	28608023	28608023	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tgtccttccactatactgtaCctttcagcattttgacggca	6	12	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.chr13:28608023C>G	ENST00000241453.7	-	15	2024		c.e15+1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_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			Somatic				FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	31	101	---	---	---	---	G	28608023	C	G	28608023	5	3	231	1	0	0	0	0	0	0	1	0	5942	521	18	4	1078	4	FLT3	13	28608023	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		28608023	86561855	18	9372										
PRKD1	5587	broad.mit.edu	37	chr14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	cttttcacttgacaagatcaTttccagcatgtctccatgga	6	11	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.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		Somatic				PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	p.M669V	NM_002742.2	NP_002733.2	WXS	Illumina GAIIx	Phase_I	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	5	76	---	---	---	---	C	30068924	T	C	30068924	3	2	231	1	0	0	0	0	1	0	0	0	12518	1493	52	2	753	2	PRKD1	14	30068924	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		30068924	77280616	19	9373										
DUOX2	50506	broad.mit.edu	37	chr15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	ggcactggggtcaatgttgaTaacagcgaccagcacgtccc	12	12	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.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		Somatic				DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V	p.I548V			WXS	Illumina GAIIx	Phase_I	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	34	100	---	---	---	---	C	45399594	T	C	45399594	3	2	231	1	0	0	0	0	1	0	0	0	4801	1406	49	2	3088	2	DUOX2	15	45399594	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		45399594	57131798	20	9374										
TRIP4	9325	broad.mit.edu	37	chr15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tggatagatcttctgaagagCctttgggagttctggtaaat	12	5	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.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		Somatic					p.P375S	NM_016213.4	NP_057297.2	WXS	Illumina GAIIx	Phase_I	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	8	67	---	---	---	---	T	64706363	C	T	64706363	3	4	231	1	0	0	0	0	1	0	0	0	16555	739	26	2	1153	2	TRIP4	15	64706363	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	19306769	64706363	37825029	21	9375										
CEACAM7	1087	broad.mit.edu	37	chr19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	tgagtagaacgagggtcctgTtgtcagtggagagcagcagc	16	7	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.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_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank	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		Somatic				CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000602225.1_Intron	p.N198S	NM_006890.3	NP_008821.1	WXS	Illumina GAIIx	Phase_I	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	15	144	---	---	---	---	C	42187829	T	C	42187829	3	2	231	1	0	0	0	0	1	0	0	0	3197	1725	60	2	212	2	CEACAM7	19	42187829	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		42187829	16941154	22	9376										
DPRX	503834	broad.mit.edu	37	chr19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	cttgttcaatgagaacccatAcccaaaccccagccttcaga	5	15	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.chr19:54137875A>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		Somatic					p.Y40C	NM_001012728.1	NP_001012746.1	WXS	Illumina GAIIx	Phase_I	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	15	90	---	---	---	---	G	54137875	A	G	54137875	3	3	231	1	0	0	0	0	1	0	0	0	4738	391	14	2	125	2	DPRX	19	54137875	Missense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	11950046	54137875	4991108	23	9377										
MCM5	4174	broad.mit.edu	37	chr22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.567873303167421	0	0.615196078431373	1	1	0	gggcggagccatggtcctggCcgatggtggggtcgtctgta	19	9	1	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.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	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		Somatic				MCM5_ENST00000382011.5_Missense_Mutation_p.A394V|MCM5_ENST00000465557.1_3'UTR	p.A437V	NM_006739.3	NP_006730.2	WXS	Illumina GAIIx	Phase_I	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	5	380	---	---	---	---	T	35811928	C	T	35811928	3	4	231	1	0	0	0	0	1	0	0	0	9390	739	26	2	1344	2	MCM5	22	35811928	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		35811928	15492638	24	9378										
APOBEC4	403314	broad.mit.edu	37	chr1	183617689	183617689	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	tggcccttttgcaccaggctAccagaagaagtttttagttc	9	10	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.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			Somatic				RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	p.G76G	NM_203454.2	NP_982279.1	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	T	183617689	A	T	183617689	2	4	232	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	9379										
HMCN1	83872	broad.mit.edu	37	chr1	186064439	186064439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	gttctcaaaggtagttccacCtctatggcatgcattactga	8	10	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.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			Somatic				HMCN1_ENST00000367492.2_Silent_p.T3453T	p.T3453T	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	9	38	---	---	---	---	T	186064439	C	T	186064439	2	4	232	1	0	0	0	0	0	0	0	1	7220	668	24	2		2	HMCN1	1	186064439	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	2446750	186064439	63186182	2	9380										
PUM2	23369	broad.mit.edu	37	chr2	20463106	20463106	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	ttataccgaagccgggaaggAggaaagagctggctgctgga	16	7	0	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.chr2:20463106A>C	ENST00000361078.2	-	13	2095	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000338086.5_Silent_p.P691P			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			Somatic				PUM2_ENST00000403432.1_Silent_p.P691P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000319801.5_Silent_p.P612P	p.P691P			WXS	Illumina GAIIx	Phase_I	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	15	30	---	---	---	---	C	20463106	A	C	20463106	2	2	232	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	3	9381										
TMEM87B	84910	broad.mit.edu	37	chr2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	gctctggttagagacagtcaAcgacgtaagtggagtgtcgg	15	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.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		Somatic					p.N54S	NM_032824.2	NP_116213.1	WXS	Illumina GAIIx	Phase_I	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	11	23	---	---	---	---	G	112813329	A	G	112813329	3	3	232	1	0	0	0	0	1	0	0	0	16208	43	2	2	163	2	TMEM87B	2	112813329	Missense_Mutation	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08	92350223	112813329	130386044	4	9382										
ASB1	51665	broad.mit.edu	37	chr2	239353281	239353281	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	aatttggagccaacctgaatCtagtgaagtgggaatcgctg	12	7	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.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			Somatic				ASB1_ENST00000409297.1_Silent_p.L164L	p.L265L	NM_001040445.1	NP_001035535.1	WXS	Illumina GAIIx	Phase_I	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	24	49	---	---	---	---	T	239353281	C	T	239353281	2	4	232	1	0	0	0	0	0	0	0	1	1013	912	32	2		2	ASB1	2	239353281	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	126539952	239353281	3846092	5	9383										
C3orf72	401089	broad.mit.edu	37	chr3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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)cctgagcgg>ccg		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		Somatic					p.ER147del	NM_001040061.2	NP_001035150.1	WXS	Illumina GAIIx	Phase_I	Q6ZUU3	CC072_HUMAN			3	563_568	+			147					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	232	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	6	9384										
ATP13A5	344905	broad.mit.edu	37	chr3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	acagtgtggtggtctcaaaaCttaaaattgaaccaggaatc	9	7	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.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		Somatic				ATP13A5_ENST00000495496.1_5'UTR	p.S1041I	NM_198505.2	NP_940907.2	WXS	Illumina GAIIx	Phase_I	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	13	31	---	---	---	---	A	193002807	C	A	193002807	3	1	232	1	0	0	0	0	1	0	0	0	1127	565	20	3	548	3	ATP13A5	3	193002807	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	54333489	193002807	5019623	7	9385										
ARHGAP26	23092	broad.mit.edu	37	chr5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	ccaaaaagaagtatgacaaaGagacagaaaagtattgtggc	10	5	0	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.chr5:142264887G>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		Somatic				ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q	p.E137Q	NM_001135608.1	NP_001129080.1	WXS	Illumina GAIIx	Phase_I	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	13	42	---	---	---	---	C	142264887	G	C	142264887	3	2	232	1	0	0	0	0	1	0	0	0	875	943	33	4	427	4	ARHGAP26	5	142264887	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		142264887	38650373	8	9386										
FAM71B	153745	broad.mit.edu	37	chr5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	ctaataccctctgaggatatGttggcagcacctgccatgga	10	11	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.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		Somatic					p.N335K	NM_130899.2	NP_570969.2	WXS	Illumina GAIIx	Phase_I	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	28	69	---	---	---	---	T	156590271	G	T	156590271	3	4	232	1	0	0	0	0	1	0	0	0	5608	1368	48	3	816	3	FAM71B	5	156590271	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	14325384	156590271	24324989	9	9387										
C7orf58	79974	broad.mit.edu	37	chr7	120768459	120768459	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	gaaaactatcaaaaggaactAaatcagtgtctgtccttaga	7	7	3	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.chr7:120768459A>C	ENST00000310396.5	+	11	1793	c.1326A>C	c.(1324-1326)ctA>ctC	p.L442L	CPED1_ENST00000450913.2_Silent_p.L442L|CPED1_ENST00000423795.1_Silent_p.L222L	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			Somatic				CPED1_ENST00000423795.1_Silent_p.L222L|CPED1_ENST00000450913.2_Silent_p.L442L	p.L442L	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					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	13	29	---	---	---	---	C	120768459	A	C	120768459	2	2	232	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	10	9388										
SLC5A12	159963	broad.mit.edu	37	chr11	26725366	26725366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	atatgtagtcgagatccattTgttgattgctctaatacatt	7	6	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.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			Somatic				SLC5A12_ENST00000280467.6_Silent_p.T218T	p.T218T	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	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	40	73	---	---	---	---	C	26725366	T	C	26725366	2	2	232	1	0	0	0	0	0	0	0	1	14664	1799	63	2		2	SLC5A12	11	26725366	Silent	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08		26725366	108281150	11	9389										
TMEM132A	54972	broad.mit.edu	37	chr11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	ggcacagtcagcccttcccgCcccaaagcaggtgacagttg	11	15	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.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		Somatic				TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D	p.A674D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	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	3	5	---	---	---	---	A	60702905	C	A	60702905	3	1	232	1	0	0	0	0	1	0	0	0	16042	739	26	3	2059	3	TMEM132A	11	60702905	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	33977539	60702905	74303611	12	9390										
BICD1	636	broad.mit.edu	37	chr12	32369195	32369195	+	Silent	SNP	C	C	G													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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			Somatic				BICD1_ENST00000281474.5_Silent_p.S76S	p.S76S	NM_001003398.1	NP_001003398.1	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	G	32369195	C	G	32369195	2	3	232	1	0	0	0	0	0	0	0	1	1428	668	24	4		4	BICD1	12	32369195	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		32369195	101482700	13	9391	15	2								
BICD1	636	broad.mit.edu	37	chr12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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		Somatic				BICD1_ENST00000281474.5_Missense_Mutation_p.F77S	p.F77S	NM_001003398.1	NP_001003398.1	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	C	32369197	T	C	32369197	3	2	232	1	0	0	0	0	1	0	0	0	1428	1783	62	2	236	2	BICD1	12	32369197	Missense_Mutation	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08	2	32369197	101482698	14	9392	15	2								
IFT81	28981	broad.mit.edu	37	chr12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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)gtgfs		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		Somatic				IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	p.V490fs	NM_014055.3	NP_054774.2	WXS	Illumina GAIIx	Phase_I	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	232	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	78261227	110630424	23221471	15	9393										
RFC3	5983	broad.mit.edu	37	chr13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	gtatcggccctgctccttggGacggctggactatcacaagg	13	12	1	0	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		Somatic				RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	p.G14E	NM_002915.3	NP_002906.1	WXS	Illumina GAIIx	Phase_I	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	10	37	---	---	---	---	A	34392356	G	A	34392356	3	1	232	1	0	0	0	0	1	0	0	0	13246	1174	41	2	43	2	RFC3	13	34392356	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		34392356	80777522	16	9394										
MIS12	79003	broad.mit.edu	37	chr17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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)actfs		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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	232	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	17	9395										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	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.chr17:47696426A>T	ENST00000393328.2	-	6	762	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000393331.3_Missense_Mutation_p.F133I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I	p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	31	79	---	---	---	---	T	47696426	A	T	47696426	3	4	232	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	42303773	47696426	33498784	18	9396										
ZNF841	284371	broad.mit.edu	37	chr19	52580282	52580282	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	ctttctgaacagggtccaggCatttccactcctcctgagag	9	13	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				ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.C24Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y			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			Somatic				ZNF841_ENST00000426391.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.C24Y	p.C24Y	NM_001136499.1	NP_001129971.1	WXS	Illumina GAIIx	Phase_I	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	15	41	---	---	---	---	T	52580282	C	T	52580282	1	4	232	0	1	0	0	0	0	0	0	0	18186	710	25	2		2	ZNF841	19	52580282	Intron	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		52580282	6548701	19	9397										
BCL2L13	23786	broad.mit.edu	37	chr22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-													0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	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_ENST00000337612.5_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_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)gttfs		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		Somatic				BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron	p.V145fs	NM_015367.3	NP_056182.2	WXS	Illumina GAIIx	Phase_I	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	232	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		18178954	33125612	20	9398										
MKL1	57591	broad.mit.edu	37	chr22	40816928	40816928	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.15	3	0.853525798085268	3.6875	7.375	1.84375	1	1	0	aggatctgcagctggaggaaGagctgctgctgctgcaggat	16	8	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.chr22:40816928G>C	ENST00000355630.3	-	10	1394	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000396617.3_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			Somatic				MKL1_ENST00000407029.1_Silent_p.L268L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000402042.1_Silent_p.L218L	p.L268L	NM_001282662.1	NP_001269591.1	WXS	Illumina GAIIx	Phase_I	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	16	36	---	---	---	---	C	40816928	G	C	40816928	2	2	232	1	0	0	0	0	0	0	0	1	9601	929	33	4		4	MKL1	22	40816928	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	22637974	40816928	10487638	21	9399										
CYP4Z1	199974	broad.mit.edu	37	chr1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	tgatcagagccctgcacctgTttcctgcaccccctgcccac	7	19	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.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		Somatic					p.F46L	NM_178134.2	NP_835235.1	WXS	Illumina GAIIx	Phase_I	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	31	43	---	---	---	---	C	47533298	T	C	47533298	3	2	233	1	0	0	0	0	1	0	0	0	4194	1725	60	2	138	2	CYP4Z1	1	47533298	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		47533298	201717323	1	9400										
SPTA1	6708	broad.mit.edu	37	chr1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	cttgaaactttgataccgagTcaacacttcctgacgcctct	6	13	2	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.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																																						ENST00000368147.4																			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		Somatic					p.T33S	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			2	277	-	all_hematologic(112;0.0378)							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	40	81	---	---	---	---	A	158655065	T	A	158655065	3	1	233	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	9401										
GCC2	9648	broad.mit.edu	37	chr2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	ggaaactgtgtccaaagaggCggaactccgggaaaagtaag	14	7	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.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		Somatic					p.A1405V	NM_181453.3	NP_852118	WXS	Illumina GAIIx	Phase_I	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	10	20	---	---	---	---	T	109106455	C	T	109106455	3	4	233	1	0	0	0	0	1	0	0	0	6286	768	27	2	4284	2	GCC2	2	109106455	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		109106455	134092918	3	9402										
DNER	92737	broad.mit.edu	37	chr2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	cacgtgccattcaggccgtcGctgtcacaggtggctccgtt	12	14	2	0	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		Somatic					p.S560R	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	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	6	121	---	---	---	---	T	230271991	G	T	230271991	3	4	233	1	0	0	0	0	1	0	0	0	4667	1078	38	3	549	3	DNER	2	230271991	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	121165536	230271991	12927382	4	9403										
NBEAL2	23218	broad.mit.edu	37	chr3	47038461	47038461	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	taggcttgtaagaacaacatCtgcctggacctgtcccccag	9	13	1	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.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR	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			Somatic				NBEAL2_ENST00000292309.5_Silent_p.I858I|NBEAL2_ENST00000383740.2_5'UTR	p.I858I	NM_015175.2	NP_055990.1	WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	A	47038461	C	A	47038461	2	1	233	1	0	0	0	0	0	0	0	1	10189	903	32	3		3	NBEAL2	3	47038461	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		47038461	150983969	5	9404										
PARP9	83666	broad.mit.edu	37	chr3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	caatggccctctgcagctttCcagtacatccctgtttatcc	6	15	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.chr3:122274491C>T	ENST00000360356.2	-	4	859	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000462315.1_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000492382.1_Intron	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		Somatic				PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000492382.1_Intron	p.G176E	NM_001146106.1	NP_001139578.1	WXS	Illumina GAIIx	Phase_I	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	7	35	---	---	---	---	T	122274491	C	T	122274491	3	4	233	1	0	0	0	0	1	0	0	0	11466	855	30	2	2017	2	PARP9	3	122274491	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	75236030	122274491	75747939	6	9405										
RGMB	285704	broad.mit.edu	37	chr5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	gactgccaacagccagcccaAtgtcgaatccagaaatgcac	8	14	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.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		Somatic				RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H	p.Q94H	NM_001012761.2	NP_001012779.2	WXS	Illumina GAIIx	Phase_I	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	88	108	---	---	---	---	C	98115306	A	C	98115306	3	2	233	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	7	9406										
PCDHGB7	56099	broad.mit.edu	37	chr5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	atgcctggctgtcctaccacGtggtgcaggccagtgagccc	13	14	0	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	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_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	56099							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		Somatic				PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.V608M	NM_018927.3	NP_061750.1	WXS	Illumina GAIIx	Phase_I			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	4	105	---	---	---	---	A	140799248	G	A	140799248	3	1	233	1	0	0	0	0	1	0	0	0	11568	1145	40	2	1824	2	PCDHGB7	5	140799248	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	42683942	140799248	40116012	8	9407										
PCDH12	51294	broad.mit.edu	37	chr5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	tttcagcctgaagtggcccaGctcttggctcagccagcagt	11	13	3	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.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		Somatic					p.L397V	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	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	5	96	---	---	---	---	C	141336228	G	C	141336228	3	2	233	1	0	0	0	0	1	0	0	0	11510	962	34	4	2381	4	PCDH12	5	141336228	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	536980	141336228	39579032	9	9408										
TEX15	56154	broad.mit.edu	37	chr8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	tgtcaagtcagactgcgagtCtttactaactttaatttccc	6	10	3	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.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		Somatic					p.D1550N	NM_031271.3	NP_112561.2	WXS	Illumina GAIIx	Phase_I	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	38	70	---	---	---	---	T	30701886	C	T	30701886	3	4	233	1	0	0	0	0	1	0	0	0	15776	913	32	2	3737	2	TEX15	8	30701886	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		30701886	115662136	10	9409										
A1CF	29974	broad.mit.edu	37	chr10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	ataatcggcagttgtccacaCtggcacaaacccctaagagg	9	12	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.chr10:52596043C>T	ENST00000373993.1	-	4	439	c.395G>A	c.(394-396)aGt>aAt	p.S132N	A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000374001.2_Missense_Mutation_p.S132N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N			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																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(394-396)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		Somatic				A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000395489.2_Missense_Mutation_p.S125N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N	p.S132N			WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			5	534	-						RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.395G>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	31	39	---	---	---	---	T	52596043	C	T	52596043	3	4	233	1	0	0	0	0	1	0	0	0	2	565	20	2	1421	2	A1CF	10	52596043	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		52596043	82938704	11	9410										
CCDC70	83446	broad.mit.edu	37	chr13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	aggacttcagggaagagatgTggactttccgaggcaagatc	14	7	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.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		Somatic					p.W70R	NM_031290.2	NP_112580.2	WXS	Illumina GAIIx	Phase_I	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	32	52	---	---	---	---	C	52439722	T	C	52439722	3	2	233	1	0	0	0	0	1	0	0	0	2843	1696	59	2	210	2	CCDC70	13	52439722	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		52439722	62730156	12	9411										
STK24	8428	broad.mit.edu	37	chr13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	tccttttgatctgggtgtctGtcagctggccagccacgcca	11	13	3	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.chr13:99127163G>T	ENST00000376547.3	-	5	690	c.545C>A	c.(544-546)aCa>aAa	p.T182K	STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000397517.2_Missense_Mutation_p.T170K	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		Somatic				STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K	p.T170K	NM_001032296.2	NP_001027467.2	WXS	Illumina GAIIx	Phase_I	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	13	33	---	---	---	---	T	99127163	G	T	99127163	3	4	233	1	0	0	0	0	1	0	0	0	15292	1377	48	3	814	3	STK24	13	99127163	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	46687441	99127163	16042715	13	9412										
CTSG	1511	broad.mit.edu	37	chr14	25043658	25043658	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	agtccctcctgggctctaggCagagccactgggttcacgtt	12	13	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.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			Somatic					p.L129L	NM_001911.2	NP_001902.1	WXS	Illumina GAIIx	Phase_I	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	21	107	---	---	---	---	A	25043658	C	A	25043658	2	1	233	1	0	0	0	0	0	0	0	1	4035	697	25	3		3	CTSG	14	25043658	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		25043658	82305882	14	9413										
SCG3	29106	broad.mit.edu	37	chr15	51975311	51975311	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	gaagacaagattaaaaaaacAtatcctccaggtaaaaagaa	6	6	0	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			Somatic				SCG3_ENST00000542355.2_5'UTR	p.T57T	NM_013243.3	NP_037375.2	WXS	Illumina GAIIx	Phase_I	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	39	42	---	---	---	---	G	51975311	A	G	51975311	2	3	233	1	0	0	0	0	0	0	0	1	13892	204	8	2		2	SCG3	15	51975311	Silent	SNP	A	TCGA-KK-A6E1-01A-11D-A30X-08		51975311	50556081	15	9414										
SULT4A1	25830	broad.mit.edu	37	chr22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	aaaggtgcctcggtagctcaTggtccgcagagagcggtgga	16	9	1	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		Somatic				SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L|SULT4A1_ENST00000540422.1_Intron	p.M152L	NM_014351.3	NP_055166.1	WXS	Illumina GAIIx	Phase_I	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	25	48	---	---	---	---	A	44234801	T	A	44234801	3	1	233	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		44234801	7069765	16	9415										
DOCK11	139818	broad.mit.edu	37	chrX	117775256	117775256	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.38636363636364	0	1.66363636363636	1	1	0	gacaccatatcatttttcacTcagtgcttcaaggtaaaaat	5	9	4	0	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			Somatic				DOCK11_ENST00000276202.7_Silent_p.T1416T	p.T1416T			WXS	Illumina GAIIx	Phase_I	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	18	22	---	---	---	---	C	117775256	T	C	117775256	2	2	233	1	0	0	0	0	0	0	0	1	4686	1538	54	2		2	DOCK11	23	117775256	Silent	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		117775256	37495304	17	9416										
C1orf66	51093	broad.mit.edu	37	chr1	156704062	156704062	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	ctggcggctacccactgagtCagtgggtggctgggctgcct	16	12	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*		Somatic				RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.Q300*	NM_015997.3	NP_057081.3	WXS	Illumina GAIIx	Phase_I	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	8	43	---	---	---	---	T	156704062	C	T	156704062	4	4	234	1	0	0	0	0	0	1	0	0	2056	827	29	2	920	2	C1orf66	1	156704062	Nonsense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		156704062	92546559	1	9417										
COL6A6	131873	broad.mit.edu	37	chr3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	cactgaagcccggggcagccGcctgaacaagggggtccccc	14	16	0	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.chr3:130289977G>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		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	p.R906H	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	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	5	18	---	---	---	---	A	130289977	G	A	130289977	3	1	234	1	0	0	0	0	1	0	0	0	3703	1087	38	2	2739	2	COL6A6	3	130289977	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		130289977	67732453	2	9418										
PCDHB15	56121	broad.mit.edu	37	chr5	140627360	140627360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tttccagggcatctggtggaCgtgagcggcaccgggaccct	15	12	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.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	56121				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			Somatic					p.D738D	NM_018935.2	NP_061758.1	WXS	Illumina GAIIx	Phase_I	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	5	180	---	---	---	---	T	140627360	C	T	140627360	2	4	234	1	0	0	0	0	0	0	0	1	11540	535	19	2		2	PCDHB15	5	140627360	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		140627360	40287900	3	9419										
MIOS	54468	broad.mit.edu	37	chr7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tatcaaggtatggacttgatAcagagcaggtgtggaggaac	14	5	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.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		Somatic				MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	p.T406A	NM_019005.3	NP_061878.3	WXS	Illumina GAIIx	Phase_I	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	5	81	---	---	---	---	G	7613322	A	G	7613322	3	3	234	1	0	0	0	0	1	0	0	0	9589	391	14	2	1218	2	MIOS	7	7613322	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		7613322	151525341	4	9420										
RP1	6101	broad.mit.edu	37	chr8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	aagtgcaataagtgctggtgTtatagaaattacaagtcaga	10	4	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.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		Somatic					p.V549A	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	19	33	---	---	---	---	C	55538088	T	C	55538088	3	2	234	1	0	0	0	0	1	0	0	0	13532	1725	60	2	1656	2	RP1	8	55538088	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08		55538088	90825934	5	9421										
RALYL	138046	broad.mit.edu	37	chr8	85441793	85441793	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gctggagaaaatgccagagtCatcgccggccaaccacttgg	12	12	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.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V	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			Somatic				RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V	p.V79V	NM_173848.5	NP_776247.3	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	G	85441793	C	G	85441793	2	3	234	1	0	0	0	0	0	0	0	1	13020	813	29	4		4	RALYL	8	85441793	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	29903705	85441793	60922229	6	9422										
RCL1	10171	broad.mit.edu	37	chr9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	aagtggttttctcatgtcctGtgaggaaggtcttgaagccc	12	8	2	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.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		Somatic					p.V173M	NM_005772.3	NP_005763.3	WXS	Illumina GAIIx	Phase_I	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	17	18	---	---	---	---	A	4834198	G	A	4834198	3	1	234	1	0	0	0	0	1	0	0	0	13178	1377	48	2	535	2	RCL1	9	4834198	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		4834198	136379233	7	9423										
DCHS1	8642	broad.mit.edu	37	chr11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	cccattggctcccacatctgGatcagaggcccgaagcatgg	11	14	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.chr11:6649894G>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		Somatic					p.P1777A	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	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	23	42	---	---	---	---	C	6649894	G	C	6649894	3	2	234	1	0	0	0	0	1	0	0	0	4287	1174	41	4	4603	4	DCHS1	11	6649894	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		6649894	128356622	8	9424										
ODZ4	26011	broad.mit.edu	37	chr11	78381219	78381219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	atcaggggcccaatctgacgGtagcggatggtgcaggtgaa	16	8	2	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.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			Somatic					p.Y2057Y	NM_001098816.2	NP_001092286.2	WXS	Illumina GAIIx	Phase_I					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	3	32	---	---	---	---	A	78381219	G	A	78381219	2	1	234	1	0	0	0	0	0	0	0	1	10837	1256	44	2		2	ODZ4	11	78381219	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	71731325	78381219	56625297	9	9425										
KDM4DL	390245	broad.mit.edu	37	chr11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tctcaaggaaaatgggattcCcttcaattgcatgactcagg	9	9	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.chr11:94759491C>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		Somatic					p.P257L	NM_001161630.1	NP_001155102.1	WXS	Illumina GAIIx	Phase_I	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	10	30	---	---	---	---	T	94759491	C	T	94759491	3	4	234	1	0	0	0	0	1	0	0	0	8132	623	22	2	772	2	KDM4DL	11	94759491	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	16378272	94759491	40247025	10	9426										
PTPRO	5800	broad.mit.edu	37	chr12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gacggacaggaacattcattGccctggacaggctcttgcag	12	11	2	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.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|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		Somatic				PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T	p.A1148T	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	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	47	105	---	---	---	---	A	15742420	G	A	15742420	3	1	234	1	0	0	0	0	1	0	0	0	12809	1319	46	2	3540	2	PTPRO	12	15742420	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		15742420	118109475	11	9427										
PAN2	9924	broad.mit.edu	37	chr12	56722258	56722258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	agctgagaagccacttacagGtaatcaaatataatgaggcc	9	8	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.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000440411.3_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			Somatic				PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y	p.Y150Y	NM_001127460.2	NP_001120932	WXS	Illumina GAIIx	Phase_I	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	4	155	---	---	---	---	A	56722258	G	A	56722258	2	1	234	1	0	0	0	0	0	0	0	1	11414	1256	44	2		2	PAN2	12	56722258	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	40979838	56722258	77129637	12	9428										
RNASE7	84659	broad.mit.edu	37	chr14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gcatccgaactgcaggtacaAagagaagcgacagaacaagt	11	9	0	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.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		Somatic				NDRG2_ENST00000403829.3_Intron	p.K122R	NM_032572.3	NP_115961	WXS	Illumina GAIIx	Phase_I	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	15	134	---	---	---	---	G	21511516	A	G	21511516	3	3	234	1	0	0	0	0	1	0	0	0	13408	14	1	2	367	2	RNASE7	14	21511516	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		21511516	85838024	13	9429										
OIP5	11339	broad.mit.edu	37	chr15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gagcggcgaggaccccttcaCcacctgcgtatcccactcca	9	18	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.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000450318.1_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		Somatic					p.V44M	NM_007280.1	NP_009211.1	WXS	Illumina GAIIx	Phase_I	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	5	142	---	---	---	---	T	41624630	C	T	41624630	3	4	234	1	0	0	0	0	1	0	0	0	10848	507	18	2	579	2	OIP5	15	41624630	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		41624630	60906762	14	9430										
TCF12	6938	broad.mit.edu	37	chr15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tattttctagcagtactaatGaagatgaggatttgaaccct	8	6	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.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K	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		Somatic				TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K	p.E562K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	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	8	18	---	---	---	---	A	57565238	G	A	57565238	3	1	234	1	0	0	0	0	1	0	0	0	15684	1291	45	2	1899	2	TCF12	15	57565238	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	15940608	57565238	44966154	15	9431										
VWA3A	146177	broad.mit.edu	37	chr16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	taaacccccaaagcatgacgCtcctctcaccattgagtttc	5	15	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.chr16:22132353C>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		Somatic				VWA3A_ENST00000389397.4_5'UTR	p.A394D	NM_173615.3	NP_775886.3	WXS	Illumina GAIIx	Phase_I	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	5	61	---	---	---	---	A	22132353	C	A	22132353	3	1	234	1	0	0	0	0	1	0	0	0	17237	797	28	3	1231	3	VWA3A	16	22132353	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		22132353	68222400	16	9432										
CIAPIN1	57019	broad.mit.edu	37	chr16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	aacaaacagcaggttgtcacTttcatgaccaaggtgttctc	8	10	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.chr16:57468061T>A	ENST00000569979.1	-	4	497	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000394391.4_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_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		Somatic				CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C	p.S151C	NM_020313.2	NP_064709.2	WXS	Illumina GAIIx	Phase_I	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	16	96	---	---	---	---	A	57468061	T	A	57468061	3	1	234	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	17	9433										
C16orf80	29105	broad.mit.edu	37	chr16	58149203	58149203	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	agggtctcgatgtaattggtGccgtatgctcgccgtgtgaa	14	8	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.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			Somatic				C16orf80_ENST00000562443.1_5'UTR	p.G145G	NM_013242.2	NP_037374.1	WXS	Illumina GAIIx	Phase_I	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	54	91	---	---	---	---	C	58149203	G	C	58149203	2	2	234	1	0	0	0	0	0	0	0	1	1837	1306	46	4		4	C16orf80	16	58149203	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	681142	58149203	32205550	18	9434										
MYH10	4628	broad.mit.edu	37	chr17	8526221	8526221	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	atttggaagaaatacttacaTagattagtcctgaatagtag	8	4	0	3	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_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000360416.3_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_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.(343-345)tAt>tCt		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			Somatic				MYH10_ENST00000269243.4_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S	p.Y115S	NM_001256012.1	NP_001242941.1	WXS	Illumina GAIIx	Phase_I	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.344A>C	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	12	24	---	---	---	---	G	8526221	T	G	8526221	5	3	234	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	19	9435										
UNK	85451	broad.mit.edu	37	chr17	73780852	73780852	+	5'UTR	DEL	G	G	-													0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	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				MIR4738_ENST00000579134.1_RNA|H3F3B_ENST00000586607.1_Intron|UNK_ENST00000293218.3_Frame_Shift_Del_p.W40fs	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)tggfs		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			Somatic				H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.W40fs			WXS	Illumina GAIIx	Phase_I	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	234	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	20	9436										
DNAH17	8632	broad.mit.edu	37	chr17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	ggaccccggccgcgtaccttGtagtccatctgctcggagca	12	15	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.chr17:76496390G>T	ENST00000585328.1	-	36	5746	c.5622C>A	c.(5620-5622)taC>taA	p.Y1874*	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Y1865*	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*		Somatic				DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L	p.Y1865*			WXS	Illumina GAIIx	Phase_I			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	4	19	---	---	---	---	T	76496390	G	T	76496390	4	4	234	1	0	0	0	0	0	1	0	0	4601	1372	48	3	7935	3	DNAH17	17	76496390	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	2715538	76496390	4698820	21	9437										
ACAA2	10449	broad.mit.edu	37	chr18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tatttctagcaaataccttaAttcgtgaaccaggtgtgcag	8	8	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.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		Somatic				ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V	p.L369V	NM_006111.2	NP_006102.2	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	C	47311571	A	C	47311571	3	2	234	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	22	9438										
CYP4F22	126410	broad.mit.edu	37	chr19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gacagagcttcgccatggccGagttgcgcgtggttgtggca	16	10	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.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																																						ENST00000269703.3																			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*		Somatic				CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	p.E484*	NM_173483.3	NP_775754.2	WXS	Illumina GAIIx	Phase_I	Q6NT55	CP4FN_HUMAN			14	1649	+								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	14	15	---	---	---	---	T	15662136	G	T	15662136	4	4	234	1	0	0	0	0	0	1	0	0	4189	1059	37	3	1496	3	CYP4F22	19	15662136	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		15662136	43466847	23	9439										
CYP4F12	66002	broad.mit.edu	37	chr19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	agacgctgtcatccgggagcGgcgtcgcaccctccccactc	11	18	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.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		Somatic				CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q	p.R274Q	NM_023944.3	NP_076433	WXS	Illumina GAIIx	Phase_I					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	33	99	---	---	---	---	A	15794476	G	A	15794476	3	1	234	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	24	9440										
SF4	57794	broad.mit.edu	37	chr19	19431287	19431287	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	gttacctgcaacatcccggtTgtccatcttgagactcatcc	7	14	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.chr19:19431287T>A	ENST00000247001.5	-	1	366	c.19A>T	c.(19-21)Aac>Tac	p.N7Y	MAU2_ENST00000392313.6_5'Flank|SUGP1_ENST00000585763.1_5'UTR|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		Somatic				SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR	p.N7Y	NM_172231.3	NP_757386.2	WXS	Illumina GAIIx	Phase_I	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	28	81	---	---	---	---	A	19431287	T	A	19431287	3	1	234	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	25	9441										
BCAT2	587	broad.mit.edu	37	chr19	49299745	49299745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.115384615384615	3	1	1.64545454545455	2.74242424242424	1.37121212121212	1	1	0	tcaggcccattttccatggtGggaatgtggaggttctggga	15	7	2	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.chr19:49299745G>A	ENST00000316273.6	-	10	1092	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	BCAT2_ENST00000402551.1_Silent_p.P320P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|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			Somatic				BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000599246.1_Silent_p.P268P	p.P320P	NM_001284325.1	NP_001271254.1	WXS	Illumina GAIIx	Phase_I	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	33	78	---	---	---	---	A	49299745	G	A	49299745	2	1	234	1	0	0	0	0	0	0	0	1	1355	1335	47	2		2	BCAT2	19	49299745	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	29868458	49299745	9829238	26	9442										
SESN2	83667	broad.mit.edu	37	chr1	28598206	28598206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	tccttcgggagggggctgagAgcctcgagcagcacctgggg	18	11	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		Somatic					p.S60R	NM_031459.4	NP_113647.1	WXS	Illumina GAIIx	Phase_I	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	5	61	---	---	---	---	C	28598206	A	C	28598206	3	2	235	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	9443										
ELOVL1	64834	broad.mit.edu	37	chr1	43830879	43830879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	catagacaatgtagagggagAgtgccaccagtgagaagttg	14	6	0	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.chr1:43830879A>T	ENST00000372458.3	-	3	332	c.215T>A	c.(214-216)cTc>cAc	p.L72H	ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H|ELOVL1_ENST00000470769.1_5'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	12	24	---	---	---	---	T	43830879	A	T	43830879	3	4	235	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	9444										
SCYL3	57147	broad.mit.edu	37	chr1	169839411	169839411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ctcaccctgttcatttaagaTtgtgagcaaactttccacca	5	12	2	2	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_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367771.6_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR			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																																						ENST00000367771.6																			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		Somatic				SCYL3_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR	p.I204L	NM_020423.6	NP_065156.5	WXS	Illumina GAIIx	Phase_I	Q8IZE3	PACE1_HUMAN			6	824	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					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	9	63	---	---	---	---	G	169839411	T	G	169839411	3	3	235	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	9445										
FAM179A	165186	broad.mit.edu	37	chr2	29268261	29268261	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	gccgtgcggtgctggatgtcAcagatcgcctggcaggtgag	17	10	1	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.chr2:29268261A>T	ENST00000379558.4	+	19	3058	c.2707A>T	c.(2707-2709)Aca>Tca	p.T903S	FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S|FAM179A_ENST00000465300.1_3'UTR	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		Somatic				FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	p.T903S	NM_199280.2	NP_954974.2	WXS	Illumina GAIIx	Phase_I	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	11	80	---	---	---	---	T	29268261	A	T	29268261	3	4	235	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	9446										
GIGYF2	26058	broad.mit.edu	37	chr2	233655777	233655777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	gacttccggcctgtggacgaAggggaggagtgctctgactc	16	10	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_ENST00000409196.3_Missense_Mutation_p.E324D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D	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		Somatic				GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D	p.E352D			WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	T	233655777	A	T	233655777	3	4	235	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	204387516	233655777	9543596	5	9447										
FILIP1L	11259	broad.mit.edu	37	chr3	99569210	99569210	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	gagagtagcattcttgtttgCttttgttgaaagcgtcttct	10	6	3	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.chr3:99569210C>G	ENST00000354552.3	-	5	1780	c.1310G>C	c.(1309-1311)aGc>aCc	p.S437T	FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000331335.5_Missense_Mutation_p.S437T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T	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		Somatic				CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000476723.1_Intron	p.S437T	NM_001042459.1	NP_001035924.1	WXS	Illumina GAIIx	Phase_I	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	5	53	---	---	---	---	G	99569210	C	G	99569210	3	3	235	1	0	0	0	0	1	0	0	0	5895	797	28	4	2126	4	FILIP1L	3	99569210	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		99569210	98453220	6	9448										
FILIP1L	11259	broad.mit.edu	37	chr3	99649664	99649664	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	aataacaggtcatctcttgaGaggtcttctgcttggtggcc	11	9	4	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.chr3:99649664G>C	ENST00000354552.3	-	2	671	c.201C>G	c.(199-201)ctC>ctG	p.L67L	FILIP1L_ENST00000398326.2_Silent_p.L67L|FILIP1L_ENST00000331335.5_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_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			Somatic				CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|FILIP1L_ENST00000398326.2_Silent_p.L67L	p.L67L	NM_001042459.1	NP_001035924.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	C	99649664	G	C	99649664	2	2	235	1	0	0	0	0	0	0	0	1	5895	929	33	4		4	FILIP1L	3	99649664	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	80454	99649664	98372766	7	9449										
G3BP2	9908	broad.mit.edu	37	chr4	76571629	76571629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	attgatgcgaagttccacaaCgtttccaaaacctgtgaaaa	7	9	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.chr4:76571629C>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		Somatic				G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I	p.V357I	NM_203505.2	NP_987101.1	WXS	Illumina GAIIx	Phase_I	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	7	191	---	---	---	---	T	76571629	C	T	76571629	3	4	235	1	0	0	0	0	1	0	0	0	6142	536	19	2	387	2	G3BP2	4	76571629	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		76571629	114582647	8	9450										
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199817	26199817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ctgctaagtccgctcctgctCcaaaaaagggctccaaaaag	8	13	0	0	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	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_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		Somatic					p.P11S	NM_003522.3	NP_003513.1	WXS	Illumina GAIIx	Phase_I	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	9	89	---	---	---	---	T	26199817	C	T	26199817	3	4	235	1	0	0	0	0	1	0	0	0	7145	855	30	2	33	2	HIST1H2BF	6	26199817	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		26199817	144915250	9	9451										
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824168	34824168	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ggcaccttggagtagactctCtctttcggagaaaagcaggt	12	9	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.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		Somatic				UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	p.L425F	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	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	17	87	---	---	---	---	T	34824168	C	T	34824168	3	4	235	1	0	0	0	0	1	0	0	0	16965	913	32	2	1311	2	UHRF1BP1	6	34824168	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	8624351	34824168	136290899	10	9452										
PGK2	5232	broad.mit.edu	37	chr6	49754653	49754653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ccagcaaggatttgagctcaAcagcaacaggtgctaaggaa	11	9	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.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		Somatic					p.V83A	NM_138733.4	NP_620061.2	WXS	Illumina GAIIx	Phase_I	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	15	90	---	---	---	---	G	49754653	A	G	49754653	3	3	235	1	0	0	0	0	1	0	0	0	11791	43	2	2	1009	2	PGK2	6	49754653	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	14930485	49754653	121360414	11	9453										
KCNQ5	56479	broad.mit.edu	37	chr6	73830210	73830210	+	Frame_Shift_Del	DEL	T	T	-													0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	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_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_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)gttfs		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		Somatic				KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_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	p.V377fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	WXS	Illumina GAIIx	Phase_I	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	235	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	12	9454										
VTA1	51534	broad.mit.edu	37	chr6	142490757	142490757	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ctgtgcccatttggagaattAtgctttgaaaatgtttttgt	9	5	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.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		Somatic				VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	p.Y93F	NM_016485.3	NP_057569.2	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	T	142490757	A	T	142490757	3	4	235	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	13	9455										
KCNT1	57582	broad.mit.edu	37	chr9	138657479	138657479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ctggccggcaggactattacGtggtcatcctgtgccccacg	12	14	1	0	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_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000298480.5_Missense_Mutation_p.V404M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M			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		Somatic				KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M	p.V404M			WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	A	138657479	G	A	138657479	3	1	235	1	0	0	0	0	1	0	0	0	8091	1145	40	2	1260	2	KCNT1	9	138657479	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		138657479	2555952	14	9456										
MLL2	8085	broad.mit.edu	37	chr12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ctgggagctggactgggactGaggactggcaggcactcggg	19	9	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.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*		Somatic					p.Q2416*	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	4	31	---	---	---	---	A	49434307	G	A	49434307	4	1	235	1	0	0	0	0	0	1	0	0	9621	1299	45	2	9463	2	MLL2	12	49434307	Nonsense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		49434307	84417588	15	9457										
FRS2	10818	broad.mit.edu	37	chr12	69968695	69968695	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	gccacgagatgatggtacatCtaggaaaactagacacaata	9	8	1	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.chr12:69968695C>G	ENST00000550389.1	+	7	1733	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000299293.2_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	16	77	---	---	---	---	G	69968695	C	G	69968695	3	3	235	1	0	0	0	0	1	0	0	0	6061	913	32	4	1505	4	FRS2	12	69968695	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	20534388	69968695	63883200	16	9458										
KERA	11081	broad.mit.edu	37	chr12	91449954	91449954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	cactcgaagtcatgaatagtCcaatcatctgaatcatgtac	6	10	4	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		Somatic					p.W35C	NM_007035.3	NP_008966.1	WXS	Illumina GAIIx	Phase_I	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	10	48	---	---	---	---	A	91449954	C	A	91449954	3	1	235	1	0	0	0	0	1	0	0	0	8143	856	30	3	961	3	KERA	12	91449954	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	21481259	91449954	42401941	17	9459										
UTP20	27340	broad.mit.edu	37	chr12	101720875	101720875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	tcagaattttgtatgggcgaAtgaagaataagactgggagt	13	3	1	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		Somatic					p.M1020V	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	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	30	49	---	---	---	---	G	101720875	A	G	101720875	3	3	235	1	0	0	0	0	1	0	0	0	17096	101	4	2	3160	2	UTP20	12	101720875	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	10270921	101720875	32131020	18	9460										
HEATR6	63897	broad.mit.edu	37	chr17	58134531	58134531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.210526315789474	4	0.853525798085268	2.96031746031746	4.44047619047619	2.2202380952381	1	1	0	ggaaatgcagagtcgaatgaGccagcagggctctgaagacc	14	9	1	4	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		Somatic				HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	p.L653F	NM_022070.4	NP_071353.4	WXS	Illumina GAIIx	Phase_I	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	7	110	---	---	---	---	A	58134531	G	A	58134531	3	1	235	1	0	0	0	0	1	0	0	0	7033	971	34	2	1624	2	HEATR6	17	58134531	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		58134531	23060679	19	9461										
PER3	8863	broad.mit.edu	37	chr1	7848219	7848219	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tggcgtcttctcactttgttGacctgcttgcacctcaagac	8	13	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.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		Somatic				PER3_ENST00000377541.1_Missense_Mutation_p.D169H|PER3_ENST00000361923.2_Missense_Mutation_p.D169H	p.D169H			WXS	Illumina GAIIx	Phase_I	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	14	54	---	---	---	---	C	7848219	G	C	7848219	3	2	236	1	0	0	0	0	1	0	0	0	11731	1290	45	4	519	4	PER3	1	7848219	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7848219	241402402	1	9462			1	18		2	2	50	G		5.223279e-05
PER3	8863	broad.mit.edu	37	chr1	7848268	7848268	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	attctacgcgcacactgccaGagctcagcttcctttctgga	8	14	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.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		Somatic				PER3_ENST00000377541.1_Missense_Mutation_p.R185T|PER3_ENST00000361923.2_Missense_Mutation_p.R185T	p.R185T			WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	C	7848268	G	C	7848268	3	2	236	1	0	0	0	0	1	0	0	0	11731	942	33	4	568	4	PER3	1	7848268	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	49	7848268	241402353	2	9463			1	18		2	2	50	G		5.223279e-05
UBE4B	10277	broad.mit.edu	37	chr1	10186877	10186877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tatccccattttacaaggccTggctcttgctgccaaagagt	8	12	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.chr1:10186877T>C	ENST00000253251.8	+	10	2032	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000377157.3_Missense_Mutation_p.L282P|UBE4B_ENST00000475795.1_3'UTR					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		Somatic				UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P	p.L282P	NM_006048.4	NP_006039.2	WXS	Illumina GAIIx	Phase_I	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	8	66	---	---	---	---	C	10186877	T	C	10186877	3	2	236	1	0	0	0	0	1	0	0	0	16880	1580	55	2	1622	2	UBE4B	1	10186877	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	2338609	10186877	239063744	3	9464										
KIAA0319L	79932	broad.mit.edu	37	chr1	35921839	35921839	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	ccatcagagtctactacagtCaagctatcagggcagagaga	10	10	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_ENST00000373266.4_5'Flank|KIAA0319L_ENST00000485551.1_5'UTR	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		Somatic				KIAA0319L_ENST00000485551.1_5'UTR	p.L477F	NM_024874.4	NP_079150.3	WXS	Illumina GAIIx	Phase_I	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	17	33	---	---	---	---	G	35921839	C	G	35921839	3	3	236	1	0	0	0	0	1	0	0	0	8169	825	29	4	1766	4	KIAA0319L	1	35921839	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	25734962	35921839	213328782	4	9465										
TIE1	7075	broad.mit.edu	37	chr1	43779603	43779603	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tgcatccgcagaagctgcctGcatcggagacgcaccttcac	10	15	1	2	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_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.L436L	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	37	---	---	---	---	T	43779603	G	T	43779603	2	4	236	1	0	0	0	0	0	0	0	1	15890	1306	46	3		3	TIE1	1	43779603	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	7857764	43779603	205471018	5	9466										
FAM151A	338094	broad.mit.edu	37	chr1	55077406	55077406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tccgaggcagcctgccacagCgtcaggctgtacctggggac	14	14	1	0	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	FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	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			Somatic				FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	p.T271T	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	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	8	59	---	---	---	---	T	55077406	C	T	55077406	2	4	236	1	0	0	0	0	0	0	0	1	5458	755	27	2		2	FAM151A	1	55077406	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	11297803	55077406	194173215	6	9467										
OR10R2	343406	broad.mit.edu	37	chr1	158450409	158450409	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	ttctgaggactatcctgaagAttccctcagctgagggcaga	11	10	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.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		Somatic				RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.I248L	NM_001004472.1	NP_001004472.1	WXS	Illumina GAIIx	Phase_I	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	10	75	---	---	---	---	C	158450409	A	C	158450409	3	2	236	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	9468										
SLC9A11	284525	broad.mit.edu	37	chr1	173556842	173556842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tcacagaacgaagaggatctAtaatgccaagggtgatgcta	11	7	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.chr1:173556842A>G	ENST00000367714.3	-	5	907	c.485T>C	c.(484-486)aTa>aCa	p.I162T	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T	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		Somatic				SLC9C2_ENST00000536496.1_Missense_Mutation_p.I60T|RP3-436N22.3_ENST00000431459.1_RNA	p.I162T	NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	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	6	66	---	---	---	---	G	173556842	A	G	173556842	3	3	236	1	0	0	0	0	1	0	0	0	14711	449	16	2	2985	2	SLC9A11	1	173556842	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	15106433	173556842	75693779	8	9469										
PTPRC	5788	broad.mit.edu	37	chr1	198703477	198703477	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gtcccagggatgaaactgttGatgatttctggaggatgatt	13	5	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.chr1:198703477G>C	ENST00000367376.2	+	22	2365	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H	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		Somatic				PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H	p.D732H	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	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	14	401	---	---	---	---	C	198703477	G	C	198703477	3	2	236	1	0	0	0	0	1	0	0	0	12797	1290	45	4	2287	4	PTPRC	1	198703477	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	25146635	198703477	50547144	9	9470										
RBBP5	5929	broad.mit.edu	37	chr1	205068139	205068144	+	In_Frame_Del	DEL	ATCTTC	ATCTTC	-													0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	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)gaagatdel		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		Somatic				RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	WXS	Illumina GAIIx	Phase_I	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	236	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	9471										
LAMB3	3914	broad.mit.edu	37	chr1	209804013	209804013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gtctccagggccggttgttgTagaagggtgcacagcgctca	15	10	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.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		Somatic				LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S|LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S	p.Y297S	NM_001017402.1	NP_001017402.1	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	G	209804013	T	G	209804013	3	3	236	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	9472										
SCN10A	6336	broad.mit.edu	37	chr3	38793972	38793972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	acacactgccatgactagccCggcgttttccagaggcgagg	12	13	0	2	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		Somatic					p.R498Q	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	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	7	25	---	---	---	---	T	38793972	C	T	38793972	3	4	236	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	12	9473										
ZNF518B	85460	broad.mit.edu	37	chr4	10447770	10447770	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	ttgtgaacacttttgcacttTgcacatgtagcaatggtcat	8	8	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.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			Somatic					p.A61A	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	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	16	131	---	---	---	---	A	10447770	T	A	10447770	2	1	236	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	13	9474										
TBC1D19	55296	broad.mit.edu	37	chr4	26622238	26622238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	cctctttttgctcctaggttTcctttacctagtcatcctgc	5	14	2	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.chr4:26622238T>C	ENST00000264866.4	+	4	500	c.222T>C	c.(220-222)ttT>ttC	p.F74F	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	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			Somatic				TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	p.F74F	NM_018317.2	NP_060787.2	WXS	Illumina GAIIx	Phase_I	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	15	51	---	---	---	---	C	26622238	T	C	26622238	2	2	236	1	0	0	0	0	0	0	0	1	15604	1780	62	2		2	TBC1D19	4	26622238	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	16174468	26622238	164532038	14	9475										
XPO5	57510	broad.mit.edu	37	chr6	43519114	43519114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	agacattagtaaggacgcagGacaggatgaggggatccttg	15	6	0	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.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		Somatic				XPO5_ENST00000424378.2_5'UTR	p.S550F	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	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	24	56	---	---	---	---	A	43519114	G	A	43519114	3	1	236	1	0	0	0	0	1	0	0	0	17444	1174	41	2	2037	2	XPO5	6	43519114	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		43519114	127595953	15	9476										
TFAP2B	7021	broad.mit.edu	37	chr6	50791238	50791238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	cccgtcgtcggacttccagcCgccctacttcccacccccct	6	23	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.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		Somatic				TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L|TFAP2B_ENST00000489228.1_3'UTR	p.P76L			WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	T	50791238	C	T	50791238	3	4	236	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	16	9477										
PCLO	27445	broad.mit.edu	37	chr7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	cagtttggccagcggtaggtCgtgggccagggggtgttggt	20	7	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.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																																						ENST00000333891.9																			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		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.R882L	p.R882L	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			3	2982	-						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	6	264	---	---	---	---	A	82764221	C	A	82764221	3	1	236	1	0	0	0	0	1	0	0	0	11583	884	31	3	12892	3	PCLO	7	82764221	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		82764221	76374442	17	9478										
TMEM209	84928	broad.mit.edu	37	chr7	129818271	129818271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tttcaaacaagtattcctgaTttggagtaaggtctagatac	8	6	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.chr7:129818271T>C	ENST00000397622.2	-	10	1339	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Intron	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		Somatic				TMEM209_ENST00000473456.1_Intron|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S|TMEM209_ENST00000336804.8_Intron	p.N406S	NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	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	5	20	---	---	---	---	C	129818271	T	C	129818271	3	2	236	1	0	0	0	0	1	0	0	0	16131	1493	52	2	492	2	TMEM209	7	129818271	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	47054050	129818271	29320392	18	9479										
ZNF707	286075	broad.mit.edu	37	chr8	144776071	144776071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gttgtgggcggcggccgggcCgcagagagcgccggaagcag	21	11	0	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_ENST00000418203.2_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C			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		Somatic				ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C	p.R163C			WXS	Illumina GAIIx	Phase_I	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	4	19	---	---	---	---	T	144776071	C	T	144776071	3	4	236	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		144776071	1587951	19	9480										
C10orf53	282966	broad.mit.edu	37	chr10	50901903	50901903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	aactcatggtgaatgaagaaGtcatcttccactgcaacatt	7	9	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.chr10:50901903G>A	ENST00000374111.3	+	2	193	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I|C10orf53_ENST00000374112.3_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		Somatic				C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I	p.V61I			WXS	Illumina GAIIx	Phase_I	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	20	48	---	---	---	---	A	50901903	G	A	50901903	3	1	236	1	0	0	0	0	1	0	0	0	1606	1029	36	2	187	2	C10orf53	10	50901903	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		50901903	84632844	20	9481										
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643191	1643191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	cacacagcagctggagccacAgcccccacagccggagccac	10	19	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		Somatic					p.C45R	NM_001012709.1	NP_001012727	WXS	Illumina GAIIx	Phase_I	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	4	105	---	---	---	---	G	1643191	A	G	1643191	3	3	236	1	0	0	0	0	1	0	0	0	8563	188	7	2	557	2	KRTAP5-4	11	1643191	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08		1643191	133363325	21	9482										
SERPING1	710	broad.mit.edu	37	chr11	57367489	57367489	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gaacccatcctggaggtttcCagcttgccgacaaccaactc	8	15	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.chr11:57367489C>A	ENST00000278407.4	+	3	416	c.189C>A	c.(187-189)tcC>tcA	p.S63S	SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000340687.6_Silent_p.S63S|SERPING1_ENST00000378324.2_Silent_p.S11S|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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	36	---	---	---	---	A	57367489	C	A	57367489	2	1	236	1	0	0	0	0	0	0	0	1	14116	581	21	1		1	SERPING1	11	57367489	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	55724298	57367489	77639027	22	9483										
WNT1	7471	broad.mit.edu	37	chr12	49374247	49374247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	atcttcgctatcacctccgcCggggtcacccattcggtggc	10	16	3	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.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			Somatic					p.A133A	NM_005430.3	NP_005421.1	WXS	Illumina GAIIx	Phase_I	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	11	36	---	---	---	---	T	49374247	C	T	49374247	2	4	236	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	23	9484										
C14orf135	64430	broad.mit.edu	37	chr14	60591204	60591204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gtggatacttgttcaatactGctccaaaaggcctggcatga	10	9	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.chr14:60591204G>T	ENST00000406854.1	+	9	2869	c.2315G>T	c.(2314-2316)tGc>tTc	p.C772F	PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000535349.1_5'UTR|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		Somatic				PCNXL4_ENST00000406949.1_Missense_Mutation_p.C538F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C772F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C538F|PCNXL4_ENST00000535349.1_5'UTR	p.C772F			WXS	Illumina GAIIx	Phase_I					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	14	97	---	---	---	---	T	60591204	G	T	60591204	3	4	236	1	0	0	0	0	1	0	0	0	1745	1319	46	3	1639	3	C14orf135	14	60591204	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		60591204	46758336	24	9485										
C16orf89	146556	broad.mit.edu	37	chr16	5110422	5110422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gcttccaaaacccgggctggAgggtcagctggaactctggc	14	12	2	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.chr16:5110422A>G	ENST00000315997.5	-	3	575	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P|C16orf89_ENST00000474471.3_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		Somatic				C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P	p.L125P	NM_152459.4	NP_689672.4	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	G	5110422	A	G	5110422	3	3	236	1	0	0	0	0	1	0	0	0	1842	304	11	2	993	2	C16orf89	16	5110422	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08		5110422	85244331	25	9486										
COG7	91949	broad.mit.edu	37	chr16	23417460	23417460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gggttatctttctggaggtaAttatattcttgccatgggtt	11	5	3	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.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			Somatic					p.N533N	NM_153603.3	NP_705831.1	WXS	Illumina GAIIx	Phase_I	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	30	113	---	---	---	---	G	23417460	A	G	23417460	2	3	236	1	0	0	0	0	0	0	0	1	3663	98	4	2		2	COG7	16	23417460	Silent	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	18307038	23417460	66937293	26	9487										
SALL1	6299	broad.mit.edu	37	chr16	51175110	51175110	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	actgccgctgccaatatgttCatattgggagaagagccgct	11	10	1	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.chr16:51175110C>A	ENST00000251020.4	-	2	1056	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	SALL1_ENST00000440970.1_Missense_Mutation_p.M244I|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	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		Somatic				SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I|SALL1_ENST00000566102.1_Intron	p.M244I	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	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	9	92	---	---	---	---	A	51175110	C	A	51175110	3	1	236	1	0	0	0	0	1	0	0	0	13810	826	29	3	2959	3	SALL1	16	51175110	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	27757650	51175110	39179643	27	9488										
KLHDC4	54758	broad.mit.edu	37	chr16	87760499	87760499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tgtgaaggtgtccagattaaAggcatacacgtcgttgtagt	12	6	0	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.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_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	29	---	---	---	---	G	87760499	A	G	87760499	3	3	236	1	0	0	0	0	1	0	0	0	8358	72	3	2	951	2	KLHDC4	16	87760499	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	36585389	87760499	2594254	28	9489										
NEURL4	84461	broad.mit.edu	37	chr17	7222513	7222513	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gatgtccactgtcggtttagGaaatctatccgcacctgggg	12	10	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.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_ENST00000570460.1_Silent_p.F1156F|NEURL4_ENST00000574120.1_5'Flank	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			Somatic				NEURL4_ENST00000570460.1_Silent_p.F1156F|NEURL4_ENST00000315614.7_Silent_p.F1178F	p.F1180F	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					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	9	34	---	---	---	---	A	7222513	G	A	7222513	2	1	236	1	0	0	0	0	0	0	0	1	10347	1165	41	2		2	NEURL4	17	7222513	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7222513	73972697	29	9490										
TXNDC2	84203	broad.mit.edu	37	chr18	9888099	9888099	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	gatgaactttgcggcgccctTaaggaaaaacttgaagcagt	11	8	0	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.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																																						ENST00000357775.5																			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.(1420-1422)ctT>ctG		thioredoxin domain containing 2 (spermatozoa)							29	30	29					18																	9888099		2203	4300	6503	SO:0001819	synonymous_variant	84203				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			Somatic				TXNDC2_ENST00000306084.6_Silent_p.L541L|TXNDC2_ENST00000536353.2_3'UTR	p.L474L	NM_032243.5	NP_115619.4	WXS	Illumina GAIIx	Phase_I	Q86VQ3	TXND2_HUMAN			2	1657	+						Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1422T>G	CCDS42414.1																																																																																				0.393	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	15	8	15	---	---	---	---	G	9888099	T	G	9888099	2	3	236	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	30	9491										
SUPT5H	6829	broad.mit.edu	37	chr19	39964093	39964093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tacggctcacagacgcccctGcatgatggcagccgcactcc	10	17	1	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.chr19:39964093G>A	ENST00000599117.1	+	26	2791	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	SUPT5H_ENST00000598725.1_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000402194.2_Silent_p.L804L			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			Somatic				SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000598725.1_Silent_p.L808L	p.L808L			WXS	Illumina GAIIx	Phase_I	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	20	72	---	---	---	---	A	39964093	G	A	39964093	2	1	236	1	0	0	0	0	0	0	0	1	15396	1306	46	2		2	SUPT5H	19	39964093	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		39964093	19164890	31	9492										
KIF16B	55614	broad.mit.edu	37	chr20	16360454	16360454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	tctttttccttttggagctgGtccagttcttgaaatatctg	8	8	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.chr20:16360454G>A	ENST00000354981.2	-	19	2350	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.D731D	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			Somatic				KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000408042.1_Silent_p.D731D	p.D731D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	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	15	64	---	---	---	---	A	16360454	G	A	16360454	2	1	236	1	0	0	0	0	0	0	0	1	8278	1252	44	2		2	KIF16B	20	16360454	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		16360454	46665066	32	9493										
LPAR4	2846	broad.mit.edu	37	chrX	78010846	78010846	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.930579858446434	2.26948051948052	7.94318181818182	0	0.0476190476190476	1	0	aattctgccattgtgtgtgcTggtgtctggatcctagtcct	11	9	2	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.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																																						ENST00000435339.3																			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			Somatic					p.A160A	NM_005296.2	NP_005287.1	WXS	Illumina GAIIx	Phase_I	Q99677	LPAR4_HUMAN			2	866	+								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	7	21	---	---	---	---	C	78010846	T	C	78010846	2	2	236	1	0	0	0	0	0	0	0	1	8907	1567	55	2		2	LPAR4	23	78010846	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08		78010846	77259714	33	9494										
SPTA1	6708	broad.mit.edu	37	chr1	158606500	158606500	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	ttcttcagcaagttctgaacCccctgaagatctctcccata	5	14	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.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																																						ENST00000368147.4																			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			Somatic					p.G1747G	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			37	5421	-	all_hematologic(112;0.0378)							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	24	118	---	---	---	---	A	158606500	C	A	158606500	2	1	237	1	0	0	0	0	0	0	0	1	15115	610	22	1		1	SPTA1	1	158606500	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		158606500	90644121	1	9495										
ASTN1	460	broad.mit.edu	37	chr1	176927554	176927554	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	tggattgatggccagttcggCtggtggaatcacaaagctct	13	8	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.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_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P|ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P	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																																						ENST00000367654.3																			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		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P	p.A563P	NM_004319.1	NP_004310.1	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			10	1898	-								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	18	22	---	---	---	---	G	176927554	C	G	176927554	3	3	237	1	0	0	0	0	1	0	0	0	1064	797	28	4	2281	4	ASTN1	1	176927554	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	18321054	176927554	72323067	2	9496										
MAP2	4133	broad.mit.edu	37	chr2	210561313	210561313	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	agttagaaactattcctaaaGaggagaaagctgaaaaggaa	10	4	0	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_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q	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		Somatic				MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron	p.E1410Q	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	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	17	38	---	---	---	---	C	210561313	G	C	210561313	3	2	237	1	0	0	0	0	1	0	0	0	9235	943	33	4	4246	4	MAP2	2	210561313	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		210561313	32638060	3	9497										
MFF	56947	broad.mit.edu	37	chr2	228197187	228197187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gcagatcttgaccttattcaGtcaactccctttaaacccct	4	14	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.chr2:228197187G>T	ENST00000353339.3	+	5	753	c.312G>T	c.(310-312)caG>caT	p.Q104H	MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_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		Somatic				MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000524634.1_5'UTR	p.Q104H	NM_001277061.1	NP_001263990.1	WXS	Illumina GAIIx	Phase_I	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	6	223	---	---	---	---	T	228197187	G	T	228197187	3	4	237	1	0	0	0	0	1	0	0	0	9519	1020	36	3	322	3	MFF	2	228197187	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	17635874	228197187	15002186	4	9498										
FAT4	79633	broad.mit.edu	37	chr4	126319977	126319977	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gatatcaatgacaatccaccAgtatttccaacggacatgct	6	11	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.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			Somatic				FAT4_ENST00000335110.5_Silent_p.P36P	p.P1738P	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	50	79	---	---	---	---	T	126319977	A	T	126319977	2	4	237	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		126319977	64834299	5	9499										
DCHS2	54798	broad.mit.edu	37	chr4	155254133	155254133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	tccaggatgggctgtgttcgCgtttctcgataacgactgtc	12	10	1	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.chr4:155254133C>T	ENST00000357232.4	-	9	1729	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	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																																						ENST00000357232.4																			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		Somatic				DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H	p.R577H	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1729	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	27	44	---	---	---	---	T	155254133	C	T	155254133	3	4	237	1	0	0	0	0	1	0	0	0	4288	768	27	2	7184	2	DCHS2	4	155254133	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	28934156	155254133	35900143	6	9500										
GPR126	57211	broad.mit.edu	37	chr6	142630689	142630689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	ctttctttgcaggatgtttcGctcagatcgaatgtggagct	11	8	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.chr6:142630689G>A	ENST00000230173.6	+	2	487	c.11G>A	c.(10-12)cGc>cAc	p.R4H	GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000545477.1_3'UTR	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	57211				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		Somatic				GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000545477.1_3'UTR	p.R4H	NM_020455.5	NP_065188	WXS	Illumina GAIIx	Phase_I	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	3	6	---	---	---	---	A	142630689	G	A	142630689	3	1	237	1	0	0	0	0	1	0	0	0	6640	1087	38	2	17	2	GPR126	6	142630689	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		142630689	28484378	7	9501										
EPPK1	83481	broad.mit.edu	37	chr8	144940884	144940884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gagttcagaagctgtgatctGtcgtctaattccttggaacc	10	9	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.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		Somatic					p.Q2180E			WXS	Illumina GAIIx	Phase_I	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	93	262	---	---	---	---	C	144940884	G	C	144940884	3	2	237	1	0	0	0	0	1	0	0	0	5190	1386	48	4	728	4	EPPK1	8	144940884	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		144940884	1423138	8	9502										
PLEC	5339	broad.mit.edu	37	chr8	144990642	144990642	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	tccaccatgctgcggtccagCgcgtccttataggagatctt	10	13	1	1	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_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000357649.2_Silent_p.A4453A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000345136.3_Silent_p.A4449A	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			Somatic				PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000357649.2_Silent_p.A4453A	p.A4586A	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	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	4	246	---	---	---	---	G	144990642	C	G	144990642	2	3	237	1	0	0	0	0	0	0	0	1	12052	755	27	4		4	PLEC	8	144990642	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08	49758	144990642	1373380	9	9503										
GBF1	8729	broad.mit.edu	37	chr10	104140384	104140384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	ctgggagatcacctgggaacGcattgactgttttctccctc	10	12	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.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		Somatic					p.R1704H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	WXS	Illumina GAIIx	Phase_I	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	5	329	---	---	---	---	A	104140384	G	A	104140384	3	1	237	1	0	0	0	0	1	0	0	0	6271	1087	38	2	5257	2	GBF1	10	104140384	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		104140384	31394363	10	9504										
C10orf137	26098	broad.mit.edu	37	chr10	127431798	127431798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	taacattagaaatgaaattgGtgtgttttacatgaatcagg	9	3	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.chr10:127431798G>T	ENST00000356792.4	+	18	2775	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.G814V|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_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		Somatic				C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V	p.G814V	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	T	127431798	G	T	127431798	3	4	237	1	0	0	0	0	1	0	0	0	1594	1261	44	3	2507	3	C10orf137	10	127431798	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	23291414	127431798	8102949	11	9505										
SERGEF	26297	broad.mit.edu	37	chr11	18026082	18026082	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	atgatagaacttgaccatttTctgcaaaatacaaatactta	4	7	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.chr11:18026082T>C	ENST00000265965.5	-	4	504	c.353A>G	c.(352-354)gAa>gGa	p.E118G	SERGEF_ENST00000532265.1_Splice_Site_p.E4G|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000528200.1_Splice_Site_p.E118G	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.(352-354)gAa>gGa		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			Somatic				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	p.E118G	NM_012139.2	NP_036271.1	WXS	Illumina GAIIx	Phase_I	Q9UGK8	SRGEF_HUMAN			4	504	-			118					Q9UGK9	Splice_Site	SNP	ENST00000265965.5	37	c.353A>G	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	7	9	---	---	---	---	C	18026082	T	C	18026082	5	2	237	1	0	0	0	0	0	0	1	0	14077	1797	62	2	1055	2	SERGEF	11	18026082	Splice_Site	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08		18026082	116980434	12	9506										
LRRC4C	57689	broad.mit.edu	37	chr11	40136892	40136892	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gtgttcgagggggccatgtcTtttatccaccagctgagcca	12	11	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.chr11:40136892T>A	ENST00000278198.2	-	2	2914	c.951A>T	c.(949-951)aaA>aaT	p.K317N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_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		Somatic				LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N	p.K317N			WXS	Illumina GAIIx	Phase_I	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	27	28	---	---	---	---	A	40136892	T	A	40136892	3	1	237	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	22110810	40136892	94869624	13	9507										
CACNA1C	775	broad.mit.edu	37	chr12	2676868	2676868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gtcgtgtgtggcggcatcctGgagaccatcctggtggagac	16	10	0	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.chr12:2676868G>A	ENST00000347598.4	+	13	1803	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000399655.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_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			Somatic				CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000327702.7_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	WXS	Illumina GAIIx	Phase_I	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	14	18	---	---	---	---	A	2676868	G	A	2676868	2	1	237	1	0	0	0	0	0	0	0	1	2540	1335	47	2		2	CACNA1C	12	2676868	Silent	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		2676868	131175027	14	9508										
MLL2	8085	broad.mit.edu	37	chr12	49427537	49427537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	caggcgaagacctccggcttGcccacccggaggcccctgtg	13	17	0	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		Somatic					p.Q3651K	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	3	23	---	---	---	---	T	49427537	G	T	49427537	3	4	237	1	0	0	0	0	1	0	0	0	9621	1328	46	3	5726	3	MLL2	12	49427537	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	46750669	49427537	84424358	15	9509										
ACACB	32	broad.mit.edu	37	chr12	109703025	109703025	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	caggccagcggggagctgagTcacgtgcatatccagtccat	13	12	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			Somatic				ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000543201.1_3'UTR	p.S2351S			WXS	Illumina GAIIx	Phase_I	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	10	74	---	---	---	---	C	109703025	T	C	109703025	2	2	237	1	0	0	0	0	0	0	0	1	107	1664	58	2		2	ACACB	12	109703025	Silent	SNP	T	TCGA-KK-A7AP-01A-12D-A33T-08	60275488	109703025	24148870	16	9510										
C14orf79	122616	broad.mit.edu	37	chr14	105461072	105461072	+	Frame_Shift_Del	DEL	A	A	-													0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	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_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000549240.1_Frame_Shift_Del_p.T76fs	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)acafs		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		Somatic				C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs	p.T76fs			WXS	Illumina GAIIx	Phase_I	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	237	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	17	9511										
MGA	23269	broad.mit.edu	37	chr15	41961930	41961930	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	aaaagaacagctctgaccaaGaagggaataatatttccagt	8	7	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.chr15:41961930G>T	ENST00000570161.1	+	1	838	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_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*		Somatic				MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron	p.E280*	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	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	3	3	---	---	---	---	T	41961930	G	T	41961930	4	4	237	1	0	0	0	0	0	1	0	0	9540	943	33	3	840	3	MGA	15	41961930	Nonsense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08		41961930	60569462	18	9512										
FGF7	2252	broad.mit.edu	37	chr15	49716687	49716687	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	acatggaaggaggggatataAgagtgagaagactcttctgt	14	4	2	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*	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*	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*		Somatic				FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65*	p.R65*	NM_002009.3	NP_002000.1	WXS	Illumina GAIIx	Phase_I	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	3	47	---	---	---	---	T	49716687	A	T	49716687	4	4	237	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	19	9513										
MYLK3	91807	broad.mit.edu	37	chr16	46772020	46772020	+	Frame_Shift_Del	DEL	C	C	-													0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	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)gagfs		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		Somatic				MYLK3_ENST00000536476.1_Intron	p.E202fs	NM_182493.2	NP_872299.2	WXS	Illumina GAIIx	Phase_I	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	237	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	20	9514										
MYO15A	51168	broad.mit.edu	37	chr17	18052096	18052096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gggctggcagatggctggcgCggctggaccgtggccatgaa	19	10	0	2	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			Somatic					p.R2262R	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	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	10	10	---	---	---	---	T	18052096	C	T	18052096	2	4	237	1	0	0	0	0	0	0	0	1	10063	755	27	2		2	MYO15A	17	18052096	Silent	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		18052096	63143114	21	9515										
SMCR8	140775	broad.mit.edu	37	chr17	18220605	18220605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	agtaccattgagcccccaggTggtccggagcaaagcagtca	12	12	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.chr17:18220605T>G	ENST00000406438.3	+	1	1982	c.1502T>G	c.(1501-1503)gTg>gGg	p.V501G	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_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		Somatic					p.V501G	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	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	65	58	---	---	---	---	G	18220605	T	G	18220605	3	3	237	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	22	9516										
PTPRM	5797	broad.mit.edu	37	chr18	8143703	8143703	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	cagacagaccatacagttaaAattgctggagtcatcgcggg	11	9	1	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.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		Somatic				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	p.K742N	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	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	51	54	---	---	---	---	C	8143703	A	C	8143703	3	2	237	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	23	9517										
VAV1	7409	broad.mit.edu	37	chr19	6850726	6850726	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	aaaatcatgacagcagaaggActgtaccggatcacagagaa	10	8	2	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.chr19:6850726A>C	ENST00000602142.1	+	24	2257	c.2175A>C	c.(2173-2175)ggA>ggC	p.G725G	VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000304076.2_Silent_p.G703G|VAV1_ENST00000596764.1_Silent_p.G693G	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			Somatic				VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G	p.G703G	NM_001258206.1	NP_001245135.1	WXS	Illumina GAIIx	Phase_I	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	27	31	---	---	---	---	C	6850726	A	C	6850726	2	2	237	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	24	9518										
POU2F2	5452	broad.mit.edu	37	chr19	42599443	42599443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gcgggctcttggtaccatatGggggctgtagctggccggct	17	10	1	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.chr19:42599443G>T	ENST00000526816.2	-	11	1141	c.1126C>A	c.(1126-1128)Cat>Aat	p.H376N	POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000389341.5_Missense_Mutation_p.H360N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N			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		Somatic				POU2F2_ENST00000526816.2_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_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N	p.H360N	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	WXS	Illumina GAIIx	Phase_I	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	7	11	---	---	---	---	T	42599443	G	T	42599443	3	4	237	1	0	0	0	0	1	0	0	0	12272	1348	47	1	329	1	POU2F2	19	42599443	Missense_Mutation	SNP	G	TCGA-KK-A7AP-01A-12D-A33T-08	35748717	42599443	16529540	25	9519										
SLC12A5	57468	broad.mit.edu	37	chr20	44674562	44674562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	gagagccgacctgggccctgCtcctgactgcctgcatctgc	12	16	1	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.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																																						ENST00000243964.3																			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.(1615-1617)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		Somatic				SLC12A5_ENST00000454036.2_Missense_Mutation_p.L562F	p.L539F	NM_020708.4	NP_065759.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			13	1713	+		Myeloproliferative disorder(115;0.0122)	562					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1615C>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	5	81	---	---	---	---	T	44674562	C	T	44674562	3	4	237	1	0	0	0	0	1	0	0	0	14386	797	28	2	1790	2	SLC12A5	20	44674562	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		44674562	18350958	26	9520										
XPNPEP3	63929	broad.mit.edu	37	chr22	41318452	41318452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	tctacagcatgatgctgaccCtgataggacagaagcttaaa	9	9	1	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.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		Somatic				XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M	p.L391M	NM_022098.3	NP_071381.1	WXS	Illumina GAIIx	Phase_I	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	5	209	---	---	---	---	A	41318452	C	A	41318452	3	1	237	1	0	0	0	0	1	0	0	0	17441	680	24	1	1201	1	XPNPEP3	22	41318452	Missense_Mutation	SNP	C	TCGA-KK-A7AP-01A-12D-A33T-08		41318452	9986114	27	9521										
ZMYM3	9203	broad.mit.edu	37	chrX	70470452	70470480	+	Frame_Shift_Del	DEL	CCCGGCCCTTTGTGACACACTTGAGCGTA	CCCGGCCCTTTGTGACACACTTGAGCGTA	-													0.0357142857142857	1	1	0.639506172839506	1.59876543209877	0	1	1	0	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_ENST00000373998.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Intron	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)ctacgctcaagtgtgtcacaaagggccgggfs		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		Somatic				ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs	p.LRSSVSQRAG292fs	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	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	237	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	28	9522										
SV2A	9900	broad.mit.edu	37	chr1	149884966	149884966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ggccagttcttctcgttcttTccgtcgttgtgcctcccccc	8	17	3	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.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	9900				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		Somatic				SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	WXS	Illumina GAIIx	Phase_I	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	23	45	---	---	---	---	C	149884966	T	C	149884966	3	2	238	1	0	0	0	0	1	0	0	0	15414	1792	62	2	1849	2	SV2A	1	149884966	Missense_Mutation	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08		149884966	99365655	1	9523										
ZNF648	127665	broad.mit.edu	37	chr1	182025561	182025561	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctcacactggtagggcctctCtccgttgtgcattcgtatgt	10	12	2	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.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*		Somatic					p.E529*	NM_001009992.1	NP_001009992.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	A	182025561	C	A	182025561	4	1	238	1	0	0	0	0	0	1	0	0	18060	922	32	3	125	3	ZNF648	1	182025561	Nonsense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	32140595	182025561	67225060	2	9524										
LCT	3938	broad.mit.edu	37	chr2	136570301	136570301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctgttggatctgggtcctcaGggtggctgggtagtctccat	15	9	3	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.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			Somatic					p.L645L	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	A	136570301	G	A	136570301	2	1	238	1	0	0	0	0	0	0	0	1	8693	991	35	2		2	LCT	2	136570301	Silent	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		136570301	106629072	3	9525										
ILDR1	286676	broad.mit.edu	37	chr3	121724129	121724129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	tgcgctgccggtaatctaccCccagcacgggctcattctgc	10	16	3	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.chr3:121724129C>T	ENST00000344209.5	-	3	467	c.341G>A	c.(340-342)gGg>gAg	p.G114E	ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|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		Somatic				ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E	p.G114E	NM_175924.3	NP_787120.1	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	T	121724129	C	T	121724129	3	4	238	1	0	0	0	0	1	0	0	0	7709	623	22	2	1187	2	ILDR1	3	121724129	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		121724129	76298301	4	9526										
LAMP3	27074	broad.mit.edu	37	chr3	182853620	182853620	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctcacgcacttgaaggaatgCccgactgctgtctggaacat	10	12	2	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			Somatic				LAMP3_ENST00000466939.1_Silent_p.G310G	p.G334G	NM_014398.3	NP_055213.2	WXS	Illumina GAIIx	Phase_I	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	5	383	---	---	---	---	T	182853620	C	T	182853620	2	4	238	1	0	0	0	0	0	0	0	1	8619	726	26	2		2	LAMP3	3	182853620	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	61129491	182853620	15168810	5	9527										
FAT4	79633	broad.mit.edu	37	chr4	126372407	126372407	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctaaacatctacagtgtgcaGatcagtgaaggggtcccaat	10	9	2	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		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	p.Q3412H	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	83	90	---	---	---	---	C	126372407	G	C	126372407	3	2	238	1	0	0	0	0	1	0	0	0	5692	933	33	4	10270	4	FAT4	4	126372407	Missense_Mutation	SNP	G	TCGA-KK-A7AU-01A-11D-A32B-08		126372407	64781869	6	9528										
PCDHGB1	56104	broad.mit.edu	37	chr5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctcagtgctctttctcctcgCggtgattctagcgatcgccc	9	15	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.chr5:140731932C>T	ENST00000523390.1	+	1	2105	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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	56104							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		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A702V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	WXS	Illumina GAIIx	Phase_I			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	8	184	---	---	---	---	T	140731932	C	T	140731932	3	4	238	1	0	0	0	0	1	0	0	0	11562	768	27	2	2107	2	PCDHGB1	5	140731932	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		140731932	40183328	7	9529										
HLA-DQA2	3118	broad.mit.edu	37	chr6	32712958	32712958	+	Frame_Shift_Del	DEL	T	T	-													0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	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)ggtfs		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		Somatic					p.G35fs	NM_020056.4	NP_064440.1	WXS	Illumina GAIIx	Phase_I	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	238	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	8	9530										
MUC17	140453	broad.mit.edu	37	chr7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	gtatgtctgtcagcaccatgCcggtggccagttctgaggct	13	11	3	1	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		Somatic					p.P2998S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	5	572	---	---	---	---	T	100683689	C	T	100683689	3	4	238	1	0	0	0	0	1	0	0	0	9974	739	26	2	9002	2	MUC17	7	100683689	Missense_Mutation	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08		100683689	58454974	9	9531										
PDP1	54704	broad.mit.edu	37	chr8	94934399	94934399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	atctctgttgttcctcatcgTacattcctcagagtcgactg	7	12	3	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.chr8:94934399T>C	ENST00000297598.4	+	2	381	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H|PDP1_ENST00000396200.3_Missense_Mutation_p.Y63H|PDP1_ENST00000520728.1_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		Somatic				PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H	p.Y63H	NM_001161779.1	NP_001155251.1	WXS	Illumina GAIIx	Phase_I	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	32	85	---	---	---	---	C	94934399	T	C	94934399	3	2	238	1	0	0	0	0	1	0	0	0	11685	1638	57	2	295	2	PDP1	8	94934399	Missense_Mutation	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08		94934399	51429623	10	9532										
KIAA1429	25962	broad.mit.edu	37	chr8	95538772	95538772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ctaaatggtcaccaagtcttTtaatctctgacaagacttca	5	10	4	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.chr8:95538772T>G	ENST00000297591.5	-	8	1775	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_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		Somatic				KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T	p.K567T	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	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	202	123	---	---	---	---	G	95538772	T	G	95538772	3	3	238	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	11	9533										
DBH	1621	broad.mit.edu	37	chr9	136513016	136513016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	gtactacacagccaagctgcGgcgcttcaacgcggggatca	12	13	2	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.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		Somatic					p.R358Q	NM_000787.3	NP_000778.3	WXS	Illumina GAIIx	Phase_I	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	21	33	---	---	---	---	A	136513016	G	A	136513016	3	1	238	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	12	9534										
RECQL	5965	broad.mit.edu	37	chr12	21626537	21626537	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	ttacatgcttctgagttccaTacttcatcaaaatgttgagc	6	9	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.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			Somatic				RECQL_ENST00000421138.2_Silent_p.V465V	p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	WXS	Illumina GAIIx	Phase_I	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	4	49	---	---	---	---	C	21626537	T	C	21626537	2	2	238	1	0	0	0	0	0	0	0	1	13201	1393	49	2		2	RECQL	12	21626537	Silent	SNP	T	TCGA-KK-A7AU-01A-11D-A32B-08		21626537	112225358	13	9535										
C15orf57	90416	broad.mit.edu	37	chr15	40855084	40855084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	caccttcagggcaagaatccAcaaaggagtctgagaatgca	10	10	2	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.chr15:40855084A>C	ENST00000358005.3	-	2	404	c.131T>G	c.(130-132)gTg>gGg	p.V44G	C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G	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		Somatic				C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G	p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	WXS	Illumina GAIIx	Phase_I	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	24	233	---	---	---	---	C	40855084	A	C	40855084	3	2	238	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	14	9536										
CAPN3	825	broad.mit.edu	37	chr15	42681285	42681285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	agaggctccctcatgggctgCtccattgatgtaagtctggg	13	10	2	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	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000318023.7_Silent_p.C264C|CAPN3_ENST00000349748.3_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			Somatic				CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C	p.C264C	NM_000070.2	NP_000061.1	WXS	Illumina GAIIx	Phase_I	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	24	65	---	---	---	---	T	42681285	C	T	42681285	2	4	238	1	0	0	0	0	0	0	0	1	2628	805	28	2		2	CAPN3	15	42681285	Silent	SNP	C	TCGA-KK-A7AU-01A-11D-A32B-08	1826201	42681285	59850107	15	9537										
MLL4	9757	broad.mit.edu	37	chr19	36211883	36211883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	1	1	0.633528265107212	5.70175438596491	0	1	1	0	tgtcatcaagacaccccggcGatttatggatgaagaccccc	9	13	2	3	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_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q	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					ENST00000222270.7																			0											c.(1633-1635)cGa>cAa		lysine (K)-specific methyltransferase 2B							32	36	35					19																	36211883		1925	4134	6059	SO:0001583	missense	9757							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		Somatic				KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000341701.1_Intron	p.R545Q	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					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	7	8	---	---	---	---	A	36211883	G	A	36211883	3	1	238	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	16	9538										
NCDN	23154	broad.mit.edu	37	chr1	36026232	36026232	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gacacctaccagtgcctgacGgctgtagcaggcacacccag	11	15	0	1	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_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.T143T|NCDN_ENST00000356090.4_Silent_p.T160T	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			Somatic				NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000373253.3_Silent_p.T143T	p.T160T	NM_014284.2	NP_055099.1	WXS	Illumina GAIIx	Phase_I	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	4	78	---	---	---	---	T	36026232	G	T	36026232	2	4	239	1	0	0	0	0	0	0	0	1	10214	1103	39	1		1	NCDN	1	36026232	Silent	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		36026232	213224389	1	9539										
COL11A1	1301	broad.mit.edu	37	chr1	103400616	103400616	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gaacaatgtggaatactcacAgcaattccaggggcaccaac	9	11	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.chr1:103400616A>T	ENST00000370096.3	-	45	3804	c.3492T>A	c.(3490-3492)gcT>gcA	p.A1164A	COL11A1_ENST00000353414.4_Splice_Site_p.A1125A|COL11A1_ENST00000512756.1_Splice_Site_p.A1048A|COL11A1_ENST00000358392.2_Splice_Site_p.A1176A	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.(3526-3528)gcT>gcA		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			Somatic				COL11A1_ENST00000353414.4_Splice_Site_p.A1125A|COL11A1_ENST00000370096.3_Splice_Site_p.A1164A|COL11A1_ENST00000512756.1_Splice_Site_p.A1048A	p.A1176A	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	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.3528T>A	CCDS778.1																																																																																				0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent	3	31	3	31	---	---	---	---	T	103400616	A	T	103400616	5	4	239	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	2	9540										
LYST	1130	broad.mit.edu	37	chr1	235973754	235973754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	ggcacttccttctaaatgtaAtttttcctgagtggatcttt	7	8	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.chr1:235973754A>T	ENST00000389794.3	-	5	538	c.364T>A	c.(364-366)Tta>Ata	p.L122I	LYST_ENST00000389793.2_Missense_Mutation_p.L122I|LYST_ENST00000536965.1_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		Somatic				LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I	p.L122I			WXS	Illumina GAIIx	Phase_I	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	28	61	---	---	---	---	T	235973754	A	T	235973754	3	4	239	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	132573138	235973754	13276867	3	9541										
PLXNB1	5364	broad.mit.edu	37	chr3	48463187	48463187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	ccactgctctgggccctggcCcctcgagcactcagaacggc	11	18	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.chr3:48463187C>A	ENST00000358536.4	-	7	1818	c.1549G>T	c.(1549-1551)Ggc>Tgc	p.G517C	PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000448774.2_Intron	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	A	48463187	C	A	48463187	3	1	239	1	0	0	0	0	1	0	0	0	12123	623	22	1	4986	1	PLXNB1	3	48463187	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		48463187	149559243	4	9542										
PAQR9	344838	broad.mit.edu	37	chr3	142681313	142681313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	ggatcttgctcacgttgaagAaggcggccaccaccagccag	12	13	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_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_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		Somatic					p.F289C	NM_198504.2	NP_940906.1	WXS	Illumina GAIIx	Phase_I	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	7	45	---	---	---	---	C	142681313	A	C	142681313	3	2	239	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	5	9543										
GPR125	166647	broad.mit.edu	37	chr4	22415404	22415404	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	ctttggtgagaaaagggaagGaggaagctgaatagaagcct	15	4	0	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.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		Somatic				GPR125_ENST00000282943.5_Intron	p.P615A	NM_145290.3	NP_660333.2	WXS	Illumina GAIIx	Phase_I	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	11	41	---	---	---	---	C	22415404	G	C	22415404	3	2	239	1	0	0	0	0	1	0	0	0	6639	1174	41	4	2150	4	GPR125	4	22415404	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		22415404	168738872	6	9544										
PCDHB1	29930	broad.mit.edu	37	chr5	140432292	140432292	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	ctgacagaagcttggatcggGaggaggtctcaggctataat	14	7	1	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.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	29930				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*		Somatic					p.E413*	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	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	29	104	---	---	---	---	T	140432292	G	T	140432292	4	4	239	1	0	0	0	0	0	1	0	0	11534	1175	41	3	1239	3	PCDHB1	5	140432292	Nonsense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		140432292	40482968	7	9545										
SND1	27044	broad.mit.edu	37	chr7	127343360	127343360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gccacaaccagaacattctgGgtaccatccttcatccagtg	7	14	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.chr7:127343360G>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		Somatic					p.G275C	NM_014390.2	NP_055205.2	WXS	Illumina GAIIx	Phase_I	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	7	35	---	---	---	---	T	127343360	G	T	127343360	3	4	239	1	0	0	0	0	1	0	0	0	14844	1232	43	1	849	1	SND1	7	127343360	Missense_Mutation	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		127343360	31795303	8	9546										
FAM135B	51059	broad.mit.edu	37	chr8	139144959	139144959	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gtgttgggcagggcgtggaaCacgttgtgtcggattaaagt	17	5	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.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)	Somatic					p.V1366V	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	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		10	275	10	275	---	---	---	---	A	139144959	C	A	139144959	2	1	239	1	0	0	0	0	0	0	0	1	5449	465	17	3		3	FAM135B	8	139144959	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		139144959	7219063	9	9547										
RAB38	23682	broad.mit.edu	37	chr11	87847227	87847227	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gggcttcacgacgtccggctCaatagactccattaggtcac	10	13	3	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.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		Somatic				RP11-164N3.3_ENST00000528458.1_RNA	p.E189K	NM_022337.2	NP_071732.1	WXS	Illumina GAIIx	Phase_I	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	12	104	---	---	---	---	T	87847227	C	T	87847227	3	4	239	1	0	0	0	0	1	0	0	0	12928	835	29	2	74	2	RAB38	11	87847227	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		87847227	47159289	10	9548										
ACAD10	80724	broad.mit.edu	37	chr12	112153743	112153743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gggacactccttccatctgcCcatgccatagagagggagtt	11	12	1	1	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_ENST00000455480.2_Silent_p.A354A|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A	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			Somatic				ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000313698.4_Silent_p.A323A	p.A354A	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	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	6	132	---	---	---	---	T	112153743	C	T	112153743	2	4	239	1	0	0	0	0	0	0	0	1	108	610	22	2		2	ACAD10	12	112153743	Silent	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		112153743	21698152	11	9549										
MUC16	94025	broad.mit.edu	37	chr19	9061807	9061807	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	gggaaggctcggccatggcaCatctccaggagttctactca	12	12	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.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		Somatic					p.V8547L	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	7	29	---	---	---	---	G	9061807	C	G	9061807	3	3	239	1	0	0	0	0	1	0	0	0	9973	478	17	4	18212	4	MUC16	19	9061807	Missense_Mutation	SNP	C	TCGA-KK-A7AV-01A-11D-A32B-08		9061807	50067176	12	9550										
SPTBN4	57731	broad.mit.edu	37	chr19	41078060	41078060	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	aaggccaccagcgaggtggcTagtgactacaagaaaaagaa	12	8	0	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.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			Somatic				SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000598249.1_Silent_p.A2485A	p.A2485A			WXS	Illumina GAIIx	Phase_I	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	6	121	---	---	---	---	C	41078060	T	C	41078060	2	2	239	1	0	0	0	0	0	0	0	1	15120	1509	53	2		2	SPTBN4	19	41078060	Silent	SNP	T	TCGA-KK-A7AV-01A-11D-A32B-08	32016253	41078060	18050923	13	9551										
SIM2	6493	broad.mit.edu	37	chr21	38098585	38098585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	acatgttcatgttcagggccAgccttgacctgaagctgata	10	10	2	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.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		Somatic				SIM2_ENST00000430056.3_Missense_Mutation_p.S237G	p.S237G	NM_005069.3	NP_005060.1	WXS	Illumina GAIIx	Phase_I	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	26	4	26	---	---	---	---	G	38098585	A	G	38098585	3	3	239	1	0	0	0	0	1	0	0	0	14324	188	7	2	731	2	SIM2	21	38098585	Missense_Mutation	SNP	A	TCGA-KK-A7AV-01A-11D-A32B-08		38098585	10031310	14	9552										
SSX5	6758	broad.mit.edu	37	chrX	48054447	48054447	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	aacatggggcacctaccctaGcttctcccctgccacacagt	7	17	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.chrX:48054447G>A	ENST00000376923.1	-	2	69				SSX5_ENST00000311798.1_Missense_Mutation_p.A63V|SSX5_ENST00000347757.1_Intron			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			Somatic				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	p.A63V	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	A	48054447	G	A	48054447	1	1	239	0	1	0	0	0	0	0	0	0	15207	971	34	2		2	SSX5	23	48054447	Intron	SNP	G	TCGA-KK-A7AV-01A-11D-A32B-08		48054447	107216113	15	9553										
HCFC1	3054	broad.mit.edu	37	chrX	153216820	153216820	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.64186046511628	0	2.73643410852713	1	1	0	cgtctgatgggacagcatcaTctggtggcaggaaatagtgt	14	7	3	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		Somatic				HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G|HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G	p.D1833G	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	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	5	128	---	---	---	---	C	153216820	T	C	153216820	3	2	239	1	0	0	0	0	1	0	0	0	6991	1435	50	2	629	2	HCFC1	23	153216820	Missense_Mutation	SNP	T	TCGA-KK-A7AV-01A-11D-A32B-08	105162373	153216820	2053740	16	9554										
MACF1	23499	broad.mit.edu	37	chr1	39750842	39750842	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	ggggaaagctcatcatagagAtgctggaacgagagaaatca	13	6	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.chr1:39750842A>T	ENST00000372915.3	+	11	1321	c.1234A>T	c.(1234-1236)Atg>Ttg	p.M412L	MACF1_ENST00000567887.1_Missense_Mutation_p.M444L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000545844.1_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_Missense_Mutation_p.M412L|MACF1_ENST00000361689.2_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		Somatic				MACF1_ENST00000372915.3_Missense_Mutation_p.M412L|MACF1_ENST00000539005.1_Missense_Mutation_p.M412L|MACF1_ENST00000317713.7_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	p.M407L			WXS	Illumina GAIIx	Phase_I	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	26	82	---	---	---	---	T	39750842	A	T	39750842	3	4	240	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		39750842	209499779	1	9555										
USP33	23032	broad.mit.edu	37	chr1	78187835	78187835	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	tagcaaggtcttccttgccaGgaattggcaaggacagatct	11	9	2	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.chr1:78187835G>T	ENST00000370793.1	-	14	1875	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	USP33_ENST00000370792.3_Missense_Mutation_p.P510H|USP33_ENST00000370794.3_Missense_Mutation_p.P479H|USP33_ENST00000357428.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	92	---	---	---	---	T	78187835	G	T	78187835	3	4	240	1	0	0	0	0	1	0	0	0	17061	1000	35	1	1359	1	USP33	1	78187835	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	38436993	78187835	171062786	2	9556										
ALK	238	broad.mit.edu	37	chr2	29498076	29498076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	gggtgctgtattctgcaggaTcttgtcctctccgctaactg	11	11	3	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.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		Somatic				ALK_ENST00000431873.1_Intron	p.I644V	NM_004304.4	NP_004295.2	WXS	Illumina GAIIx	Phase_I	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	11	52	---	---	---	---	C	29498076	T	C	29498076	3	2	240	1	0	0	0	0	1	0	0	0	525	1435	50	2	3008	2	ALK	2	29498076	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08		29498076	213701297	3	9557										
LPHN3	23284	broad.mit.edu	37	chr4	62800613	62800613	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	acaagctttgaatgcatggaGagacctgactacgagtgatc	11	8	0	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.chr4:62800613G>A	ENST00000514591.1	+	13	2293	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K	LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000512091.2_Missense_Mutation_p.R655K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507164.1_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																																						ENST00000512091.2																			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		Somatic				LPHN3_ENST00000511324.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506746.1_Missense_Mutation_p.R723K|LPHN3_ENST00000504896.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508946.1_Missense_Mutation_p.R655K|LPHN3_ENST00000508693.1_Missense_Mutation_p.R723K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Missense_Mutation_p.R723K|LPHN3_ENST00000506700.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514591.1_Missense_Mutation_p.R655K|LPHN3_ENST00000545650.1_Missense_Mutation_p.R655K|LPHN3_ENST00000507164.1_Missense_Mutation_p.R723K|LPHN3_ENST00000514996.1_Missense_Mutation_p.R655K|LPHN3_ENST00000514157.1_Missense_Mutation_p.R655K|LPHN3_ENST00000506720.1_Missense_Mutation_p.R723K|LPHN3_ENST00000507625.1_Missense_Mutation_p.R723K	p.R655K			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			13	2711	+								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	5	35	---	---	---	---	A	62800613	G	A	62800613	3	1	240	1	0	0	0	0	1	0	0	0	8917	942	33	2	2006	2	LPHN3	4	62800613	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		62800613	128353663	4	9558										
BMPR1B	658	broad.mit.edu	37	chr4	96046274	96046275	+	Splice_Site	INS	-	-	A													0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	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			Somatic				BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site		NM_001203.2	NP_001194.1	WXS	Illumina GAIIx	Phase_I	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	240	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	5	9559										
AADAT	51166	broad.mit.edu	37	chr4	170988533	170988533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	ttcgtgtagaagctgtgataTcatgagctaaaagagataaa	10	4	1	4	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_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V|AADAT_ENST00000509167.1_Missense_Mutation_p.I307V	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		Somatic				AADAT_ENST00000509167.1_Missense_Mutation_p.I307V|AADAT_ENST00000353187.2_Missense_Mutation_p.I303V|AADAT_ENST00000515480.1_Missense_Mutation_p.I303V	p.I303V	NM_016228.3	NP_057312.1	WXS	Illumina GAIIx	Phase_I	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	14	35	---	---	---	---	C	170988533	T	C	170988533	3	2	240	1	0	0	0	0	1	0	0	0	14	1435	50	2	390	2	AADAT	4	170988533	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08	74942259	170988533	20165743	6	9560										
RBM27	54439	broad.mit.edu	37	chr5	145641086	145641086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	cttcaaggttgcttttaaggGtgacccagaagcagccctaa	10	10	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.chr5:145641086G>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		Somatic				RBM27_ENST00000506502.1_Missense_Mutation_p.G581V	p.G636V	NM_018989.1	NP_061862.1	WXS	Illumina GAIIx	Phase_I	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	4	65	---	---	---	---	T	145641086	G	T	145641086	3	4	240	1	0	0	0	0	1	0	0	0	13127	1261	44	3	1957	3	RBM27	5	145641086	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		145641086	35274174	7	9561										
RPL10A	4736	broad.mit.edu	37	chr6	35437258	35437258	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	atatcccccacatggacatcGaggcgctgaaaaaactcaac	7	13	1	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*		Somatic				RPL10A_ENST00000467020.1_3'UTR	p.E88*	NM_007104.4	NP_009035.3	WXS	Illumina GAIIx	Phase_I	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	9	22	---	---	---	---	T	35437258	G	T	35437258	4	4	240	1	0	0	0	0	0	1	0	0	13555	1059	37	3	276	3	RPL10A	6	35437258	Nonsense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08		35437258	135677809	8	9562										
PHF14	9678	broad.mit.edu	37	chr7	11075358	11075358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	aaactacttggctctacagtCctattgtaaaatgtctttgc	6	9	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.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		Somatic				PHF14_ENST00000445996.2_Missense_Mutation_p.S231F	p.S516F	NM_014660.3	NP_055475.2	WXS	Illumina GAIIx	Phase_I	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	37	135	---	---	---	---	T	11075358	C	T	11075358	3	4	240	1	0	0	0	0	1	0	0	0	11825	855	30	2	1577	2	PHF14	7	11075358	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		11075358	148063305	9	9563										
MTMR6	9107	broad.mit.edu	37	chr13	25848214	25848214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	tgcggtcctccttacccaggTttctttttgatgagagtcga	10	10	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.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		Somatic				MTMR6_ENST00000540661.1_Missense_Mutation_p.T46A	p.T46A	NM_004685.3	NP_004676.3	WXS	Illumina GAIIx	Phase_I	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	27	73	---	---	---	---	C	25848214	T	C	25848214	3	2	240	1	0	0	0	0	1	0	0	0	9947	1725	60	2	1781	2	MTMR6	13	25848214	Missense_Mutation	SNP	T	TCGA-KK-A7B1-01A-11D-A32B-08		25848214	89321664	10	9564										
RTF1	23168	broad.mit.edu	37	chr15	41769659	41769659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	tccctcttaccccacagttaCatcaaccagcggaaccggga	7	16	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.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			Somatic					p.Y562Y	NM_015138.4	NP_055953.3	WXS	Illumina GAIIx	Phase_I	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	22	64	---	---	---	---	T	41769659	C	T	41769659	2	4	240	1	0	0	0	0	0	0	0	1	13721	489	17	2		2	RTF1	15	41769659	Silent	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		41769659	60761733	11	9565										
KRT12	3859	broad.mit.edu	37	chr17	39021060	39021060	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	ctgccctgtctgactcacatCctcgtggttcttcttcatgt	7	14	5	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.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		Somatic					p.D269Y	NM_000223.3	NP_000214.1	WXS	Illumina GAIIx	Phase_I	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	18	106	---	---	---	---	A	39021060	C	A	39021060	3	1	240	1	0	0	0	0	1	0	0	0	8449	855	30	3	703	3	KRT12	17	39021060	Missense_Mutation	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08		39021060	42174150	12	9566										
JUP	3728	broad.mit.edu	37	chr17	39915087	39915087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	agcggggcatggttggctggGcacagggccagattcctgat	17	9	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_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.C511C	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			Somatic				JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.C511C|JUP_ENST00000310706.5_Silent_p.C511C	p.C511C	NM_002230.2	NP_002221.1	WXS	Illumina GAIIx	Phase_I	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	3	11	---	---	---	---	A	39915087	G	A	39915087	2	1	240	1	0	0	0	0	0	0	0	1	7972	1195	42	2		2	JUP	17	39915087	Silent	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	894027	39915087	41280123	13	9567										
C17orf47	284083	broad.mit.edu	37	chr17	56620062	56620062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	ctgtggcacttcactcagtgGtgcccaacttggaaactcct	9	13	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.chr17:56620062G>A	ENST00000321691.3	-	1	1667	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank	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		Somatic				RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.P496S	NM_001038704.2	NP_001033793	WXS	Illumina GAIIx	Phase_I	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	17	330	---	---	---	---	A	56620062	G	A	56620062	3	1	240	1	0	0	0	0	1	0	0	0	1858	1261	44	2	234	2	C17orf47	17	56620062	Missense_Mutation	SNP	G	TCGA-KK-A7B1-01A-11D-A32B-08	16704975	56620062	24575148	14	9568										
HEATR6	63897	broad.mit.edu	37	chr17	58143748	58143748	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.01851851851852	NA	1.01851851851852	1	1	0	gaactttagcttggtaagacCtttcataaccaagagaaaaa	7	7	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.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			Somatic				HEATR6_ENST00000585976.1_Splice_Site		NM_022070.4	NP_071353.4	WXS	Illumina GAIIx	Phase_I	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	5	19	---	---	---	---	T	58143748	C	T	58143748	5	4	240	1	0	0	0	0	0	0	1	0	7033	695	24	2	2355	2	HEATR6	17	58143748	Splice_Site	SNP	C	TCGA-KK-A7B1-01A-11D-A32B-08	1523686	58143748	23051462	15	9569										
NTRK1	4914	broad.mit.edu	37	chr1	156849931	156849936	+	In_Frame_Del	DEL	CCAGCT	CCAGCT	-													0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	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_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del|NTRK1_ENST00000368196.3_In_Frame_Del_p.QL724del	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)taccagctc>tac		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)	Somatic				NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000524377.1_In_Frame_Del_p.QL730del|NTRK1_ENST00000392302.2_In_Frame_Del_p.QL694del|NTRK1_ENST00000358660.3_In_Frame_Del_p.QL727del	p.QL724del	NM_001012331.1	NP_001012331.1	WXS	Illumina GAIIx	Phase_I	P04629	NTRK1_HUMAN			15	2289_2294	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		730			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	241	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	9570										
KIAA1614	57710	broad.mit.edu	37	chr1	180904874	180904874	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	gtgccctgcggaggtggactCtgccctggacagcacagaca	14	13	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.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		Somatic				KIAA1614_ENST00000367587.1_Missense_Mutation_p.S231C	p.S610C	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	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	11	21	---	---	---	---	G	180904874	C	G	180904874	3	3	241	1	0	0	0	0	1	0	0	0	8248	913	32	4	1847	4	KIAA1614	1	180904874	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	24054943	180904874	68345747	2	9571										
KIAA1614	57710	broad.mit.edu	37	chr1	180905490	180905490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	acccctcccccttcgaggaaAaccacctcgccagtgtctca	6	19	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.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		Somatic				KIAA1614_ENST00000367587.1_Missense_Mutation_p.K436N	p.K815N	NM_020950.1	NP_066001.1	WXS	Illumina GAIIx	Phase_I	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	14	28	---	---	---	---	C	180905490	A	C	180905490	3	2	241	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	9572										
SULT1C3	442038	broad.mit.edu	37	chr2	108869816	108869816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	gctagatttggagttcgttcTtgaaatgtcctcaccacaac	8	10	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.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		Somatic				SULT1C3_ENST00000376700.1_Missense_Mutation_p.L106P	p.L106P	NM_001008743.1	NP_001008743.1	WXS	Illumina GAIIx	Phase_I	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	12	45	---	---	---	---	C	108869816	T	C	108869816	3	2	241	1	0	0	0	0	1	0	0	0	15375	1609	56	2	327	2	SULT1C3	2	108869816	Missense_Mutation	SNP	T	TCGA-KK-A7B3-01A-11D-A33T-08		108869816	134329557	4	9573										
HS6ST1	9394	broad.mit.edu	37	chr2	129075918	129075918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	gcgcagcgagcgctccagctCgcggaccgggaagtagtact	15	13	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.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		Somatic				HS6ST1_ENST00000494089.1_5'UTR	p.E74K	NM_004807.2	NP_004798.3	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	T	129075918	C	T	129075918	3	4	241	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	5	9574										
PIKFYVE	200576	broad.mit.edu	37	chr2	209190015	209190015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	acaaaccaagacactgatgtTttttgaaggttgtccacagc	8	9	0	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.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		Somatic					p.F827C	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	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	12	27	---	---	---	---	G	209190015	T	G	209190015	3	3	241	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	6	9575										
QRICH1	54870	broad.mit.edu	37	chr3	49069649	49069649	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	agaaatcatagagcttgatgGgacatctcaatggattctct	9	7	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	RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R|IMPDH2_ENST00000326739.4_5'Flank|QRICH1_ENST00000479449.1_5'Flank	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		Somatic				QRICH1_ENST00000424300.1_Missense_Mutation_p.P702R|QRICH1_ENST00000357496.2_Missense_Mutation_p.P702R	p.P702R	NM_198880.1	NP_942581.1	WXS	Illumina GAIIx	Phase_I	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	9	62	---	---	---	---	C	49069649	G	C	49069649	3	2	241	1	0	0	0	0	1	0	0	0	12879	1232	43	4	233	4	QRICH1	3	49069649	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		49069649	148952781	7	9576										
ANKRD50	57182	broad.mit.edu	37	chr4	125631656	125631656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	tgcagactttctcttcccaaGgattagtcataacgggtttt	8	9	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.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		Somatic				ANKRD50_ENST00000515641.1_Intron	p.P4H	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	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	4	168	---	---	---	---	T	125631656	G	T	125631656	3	4	241	1	0	0	0	0	1	0	0	0	677	1000	35	1	4290	1	ANKRD50	4	125631656	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		125631656	65522620	8	9577										
UGT3A1	133688	broad.mit.edu	37	chr5	35968133	35968133	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	gaagttacctgccatccaatGctgtttctatgtagctatca	7	10	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.chr5:35968133G>T	ENST00000274278.3	-	3	656	c.299C>A	c.(298-300)gCa>gAa	p.A100E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|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		Somatic				UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A100E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A66E|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A46E	p.A100E	NM_152404.3	NP_689617.3	WXS	Illumina GAIIx	Phase_I	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	10	21	---	---	---	---	T	35968133	G	T	35968133	3	4	241	1	0	0	0	0	1	0	0	0	16960	1319	46	3	1374	3	UGT3A1	5	35968133	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		35968133	144947127	9	9578										
SLIT3	6586	broad.mit.edu	37	chr5	168176626	168176626	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	ggcagttgcagttgaaggggTtggacaggaggtttctagga	18	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	28	62	---	---	---	---	C	168176626	T	C	168176626	3	2	241	1	0	0	0	0	1	0	0	0	14741	1725	60	2	2655	2	SLIT3	5	168176626	Missense_Mutation	SNP	T	TCGA-KK-A7B3-01A-11D-A33T-08	132208493	168176626	12738634	10	9579										
MGAM	8972	broad.mit.edu	37	chr7	141758013	141758013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	tattttctagttgattggccGgcctgtgatggtaccttact	10	8	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.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		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.R1235Q	p.R1235Q			WXS	Illumina GAIIx	Phase_I	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	4	262	---	---	---	---	A	141758013	G	A	141758013	3	1	241	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		141758013	17380650	11	9580										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18474243	18474243	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	atccaagcatggaatgctgcCgtcgggcaactcctggcaca	11	13	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.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_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_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		Somatic				ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R5G|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R5G	p.R5G	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	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	39	52	---	---	---	---	G	18474243	C	G	18474243	3	3	241	1	0	0	0	0	1	0	0	0	274	652	23	4	15	4	ADAMTSL1	9	18474243	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		18474243	122739188	12	9581										
MUSK	4593	broad.mit.edu	37	chr9	113431241	113431241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	cttactctggttgccttcagCggaactgagaaacttccaaa	8	11	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.chr9:113431241C>A	ENST00000374448.4	+	1	191	c.57C>A	c.(55-57)agC>agA	p.S19R	MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000416899.2_Missense_Mutation_p.S19R|MUSK_ENST00000374440.3_5'UTR	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		Somatic				MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.S19R|MUSK_ENST00000374448.4_Missense_Mutation_p.S19R	p.S19R			WXS	Illumina GAIIx	Phase_I	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	46	147	---	---	---	---	A	113431241	C	A	113431241	3	1	241	1	0	0	0	0	1	0	0	0	9989	767	27	3	59	3	MUSK	9	113431241	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	94956998	113431241	27782190	13	9582										
DKK1	22943	broad.mit.edu	37	chr10	54074801	54074801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	caggaagcgccgaaaacgctGcatgcgtcacgctatgtgct	12	12	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	A	54074801	G	A	54074801	3	1	241	1	0	0	0	0	1	0	0	0	4544	1319	46	2	368	2	DKK1	10	54074801	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		54074801	81459946	14	9583										
KL	9365	broad.mit.edu	37	chr13	33635172	33635172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	ggactgccgcgcctcctggcCaggcagggcgcctgggagaa	17	14	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.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			Somatic				KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.A652A	NM_004795.3	NP_004786.2	WXS	Illumina GAIIx	Phase_I	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	10	48	---	---	---	---	A	33635172	C	A	33635172	2	1	241	1	0	0	0	0	0	0	0	1	8331	581	21	1		1	KL	13	33635172	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		33635172	81534706	15	9584										
ZNF828	283489	broad.mit.edu	37	chr13	115089515	115089515	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	aagttatttcactgccataaAtgcttcttcaccagcaagat	5	10	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.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		Somatic					p.K66N	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina GAIIx	Phase_I	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	12	21	---	---	---	---	T	115089515	A	T	115089515	3	4	241	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	16	9585										
PDZD9	255762	broad.mit.edu	37	chr16	21995951	21995951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	tcactgcttgtgaaagattcAtcttttgccagctcaatttt	6	9	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.chr16:21995951A>T	ENST00000424898.2	-	4	494	c.432T>A	c.(430-432)gaT>gaA	p.D144E	PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E|PDZD9_ENST00000286143.6_Missense_Mutation_p.D82E			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		Somatic				PDZD9_ENST00000537222.2_Missense_Mutation_p.D84E|PDZD9_ENST00000424898.2_Missense_Mutation_p.D144E	p.D82E			WXS	Illumina GAIIx	Phase_I	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	7	36	---	---	---	---	T	21995951	A	T	21995951	3	4	241	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	17	9586										
DEF8	54849	broad.mit.edu	37	chr16	90027430	90027430	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	caccaagctgaatacgaactGaacatctgccctgagacagg	9	12	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.chr16:90027430G>C	ENST00000268676.7	+	7	878	c.789G>C	c.(787-789)ctG>ctC	p.L263L	DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Silent_p.L202L|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000563594.1_Silent_p.L202L|DEF8_ENST00000567874.1_Silent_p.L142L	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			Somatic				DEF8_ENST00000567874.1_Silent_p.L142L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.L202L|DEF8_ENST00000268676.7_Silent_p.L263L|DEF8_ENST00000570182.1_Silent_p.L192L|DEF8_ENST00000569453.1_Silent_p.L202L	p.L202L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	WXS	Illumina GAIIx	Phase_I	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	43	104	---	---	---	---	C	90027430	G	C	90027430	2	2	241	1	0	0	0	0	0	0	0	1	4387	1277	45	4		4	DEF8	16	90027430	Silent	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08	68031479	90027430	327323	18	9587										
C17orf85	55421	broad.mit.edu	37	chr17	3716470	3716470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	agagccccccatgccctttgCagctcagagtcgtcttcctc	8	17	2	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			Somatic				C17orf85_ENST00000389005.4_Silent_p.L577L	p.L297L			WXS	Illumina GAIIx	Phase_I	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	4	126	---	---	---	---	T	3716470	C	T	3716470	2	4	241	1	0	0	0	0	0	0	0	1	1888	697	25	2		2	C17orf85	17	3716470	Silent	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08		3716470	77478740	19	9588										
TMEM132E	124842	broad.mit.edu	37	chr17	32961959	32961959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	acatcatccgagggcactgaCcaggtggtcaccatgttagg	12	11	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.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		Somatic					p.D520E	NM_207313.1	NP_997196.1	WXS	Illumina GAIIx	Phase_I	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	15	47	---	---	---	---	G	32961959	C	G	32961959	3	3	241	1	0	0	0	0	1	0	0	0	16045	506	18	4	1590	4	TMEM132E	17	32961959	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	29245489	32961959	48233251	20	9589										
MPO	4353	broad.mit.edu	37	chr17	56348167	56348167	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	atgatccggggcaatgagatCtgggccagggcctgtcgctg	16	10	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.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		Somatic				MPO_ENST00000225275.3_Missense_Mutation_p.Q696H	p.Q728H			WXS	Illumina GAIIx	Phase_I	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	14	44	---	---	---	---	A	56348167	C	A	56348167	3	1	241	1	0	0	0	0	1	0	0	0	9732	912	32	3	153	3	MPO	17	56348167	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	23386208	56348167	24847043	21	9590										
MBD1	4152	broad.mit.edu	37	chr18	47806261	47806262	+	Frame_Shift_Del	DEL	AT	AT	-													0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	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_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_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)tatfs		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		Somatic				MBD1_ENST00000398495.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.Y35fs	p.Y35fs			WXS	Illumina GAIIx	Phase_I	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	241	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	22	9591										
BRWD1	54014	broad.mit.edu	37	chr21	40596364	40596364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	aattggttccatgtcccatgGgctaagtttttcaatttcag	8	8	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.chr21:40596364G>A	ENST00000333229.2	-	29	3679	c.3352C>T	c.(3352-3354)Cca>Tca	p.P1118S	BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000342449.3_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		Somatic				BRWD1_ENST00000380800.3_Missense_Mutation_p.P1118S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P1118S	p.P1118S	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	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	33	53	---	---	---	---	A	40596364	G	A	40596364	3	1	241	1	0	0	0	0	1	0	0	0	1525	1232	43	2	3905	2	BRWD1	21	40596364	Missense_Mutation	SNP	G	TCGA-KK-A7B3-01A-11D-A33T-08		40596364	7533531	23	9592										
TCEAL6	158931	broad.mit.edu	37	chrX	101396002	101396002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	ggggcacataatctccagccGggcgcttttcggcggcccgc	14	15	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.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		Somatic				TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	p.P101L	NM_001006938.2	NP_001006939.2	WXS	Illumina GAIIx	Phase_I	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	16	79	---	---	---	---	A	101396002	G	A	101396002	3	1	241	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	24	9593										
MBNL3	55796	broad.mit.edu	37	chrX	131516262	131516262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.52850539291217	3.36271186440678	0	0.4	1	0	ggtggcaggtgttgttgctgCagacacagtggtaggtgtag	18	5	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.chrX:131516262C>A	ENST00000370853.3	-	7	1075	c.997G>T	c.(997-999)Gca>Tca	p.A333S	MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000538204.1_Missense_Mutation_p.A271S	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		Somatic				RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.A283S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A321S|MBNL3_ENST00000370839.3_Missense_Mutation_p.A298S|MBNL3_ENST00000370844.1_Missense_Mutation_p.A237S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A333S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A237S	p.A271S	NM_001170702.1	NP_001164173.1	WXS	Illumina GAIIx	Phase_I	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	44	30	---	---	---	---	A	131516262	C	A	131516262	3	1	241	1	0	0	0	0	1	0	0	0	9355	710	25	3	136	3	MBNL3	23	131516262	Missense_Mutation	SNP	C	TCGA-KK-A7B3-01A-11D-A33T-08	30120260	131516262	23754298	25	9594										
TFAP2E	339488	broad.mit.edu	37	chr1	36055549	36055549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	agggccaagtccaaaaatggGggccggtgtttgcgggaacg	17	8	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.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			Somatic					p.G268G	NM_178548.3	NP_848643.2	WXS	Illumina GAIIx	Phase_I	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	7	51	---	---	---	---	A	36055549	G	A	36055549	2	1	242	1	0	0	0	0	0	0	0	1	15788	1219	43	2		2	TFAP2E	1	36055549	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		36055549	213195072	1	9595										
FAM102B	284611	broad.mit.edu	37	chr1	109170825	109170825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	tgcctctgttccagacgaacTtggtgcctgtggacattcta	10	11	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.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		Somatic				FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	p.L198R	NM_001010883.2	NP_001010883.2	WXS	Illumina GAIIx	Phase_I	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	30	41	---	---	---	---	G	109170825	T	G	109170825	3	3	242	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	73115276	109170825	140079796	2	9596										
IER5	51278	broad.mit.edu	37	chr1	181058365	181058365	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	gagcgctcctccgtctcagaCgcgccgcgggtaggggacga	16	14	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		Somatic					p.D109E	NM_016545.4	NP_057629.2	WXS	Illumina GAIIx	Phase_I	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	4	13	---	---	---	---	G	181058365	C	G	181058365	3	3	242	1	0	0	0	0	1	0	0	0	7508	535	19	4	329	4	IER5	1	181058365	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	71887540	181058365	68192256	3	9597										
C2orf24	27013	broad.mit.edu	37	chr2	220038176	220038176	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ccagcctcgccaccgtccctGctgctcagccacactggggg	11	19	1	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*		Somatic				CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*	p.Q196*			WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---	A	220038176	G	A	220038176	4	1	242	1	0	0	0	0	0	1	0	0	2159	1328	46	2	654	2	C2orf24	2	220038176	Nonsense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		220038176	23161197	4	9598										
LMTK2	22853	broad.mit.edu	37	chr7	97788717	97788720	+	Frame_Shift_Del	DEL	GTGT	GTGT	-													0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	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)gtgtttfs		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		Somatic					p.VF213fs	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	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	242	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		97788717	61349946	5	9599										
TRIM35	23087	broad.mit.edu	37	chr8	27151801	27151801	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ttatcaaactcctgccggatCcggccttccagccatgcagc	8	16	1	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.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			Somatic				TRIM35_ENST00000521253.1_Silent_p.R154R	p.R186R	NM_171982.3	NP_741983.2	WXS	Illumina GAIIx	Phase_I	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	19	3	19	---	---	---	---	A	27151801	C	A	27151801	2	1	242	1	0	0	0	0	0	0	0	1	16506	842	30	3		3	TRIM35	8	27151801	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		27151801	119212221	6	9600										
OR13C3	138803	broad.mit.edu	37	chr9	107298274	107298274	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	atatgatcaccacagtcaggTgagctgagcacgtggaaaat	11	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.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		Somatic					p.H274L	NM_001001961.1	NP_001001961.1	WXS	Illumina GAIIx	Phase_I	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	54	108	---	---	---	---	A	107298274	T	A	107298274	3	1	242	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	7	9601										
SLC39A12	221074	broad.mit.edu	37	chr10	18250534	18250534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ttgaaccagatgcactattaCtaatagctggaggaaatttt	8	6	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.chr10:18250534C>A	ENST00000377369.2	+	3	559	c.286C>A	c.(286-288)Cta>Ata	p.L96I	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|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		Somatic				SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I	p.L96I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	WXS	Illumina GAIIx	Phase_I	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	36	61	---	---	---	---	A	18250534	C	A	18250534	3	1	242	1	0	0	0	0	1	0	0	0	14615	564	20	3	292	3	SLC39A12	10	18250534	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08		18250534	117284213	8	9602										
RET	5979	broad.mit.edu	37	chr10	43622119	43622119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	cgctggtggactgtaataatGcccccctccctcgagccctc	9	17	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.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		Somatic				RET_ENST00000340058.5_Missense_Mutation_p.A1046S	p.A1046S	NM_020975.4	NP_066124.1	WXS	Illumina GAIIx	Phase_I	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	36	55	---	---	---	---	T	43622119	G	T	43622119	3	4	242	1	0	0	0	0	1	0	0	0	13235	1319	46	3	3210	3	RET	10	43622119	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	25371585	43622119	91912628	9	9603										
SLC22A10	387775	broad.mit.edu	37	chr11	63065162	63065162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ggcaaaccctgcacgtggtgGcgtctgtacctttctttgtc	11	12	2	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.chr11:63065162G>A	ENST00000332793.6	+	4	795	c.793G>A	c.(793-795)Gcg>Acg	p.A265T	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.A110T|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		Somatic				SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T	p.A110T			WXS	Illumina GAIIx	Phase_I	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	40	75	---	---	---	---	A	63065162	G	A	63065162	3	1	242	1	0	0	0	0	1	0	0	0	14441	1203	42	2	807	2	SLC22A10	11	63065162	Missense_Mutation	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		63065162	71941354	10	9604										
GUCY2C	2984	broad.mit.edu	37	chr12	14798210	14798210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	cttaaactcccaatccatgaAtgtgccatcagggtaggaaa	8	10	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.chr12:14798210A>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		Somatic					p.F584V	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	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	34	78	---	---	---	---	C	14798210	A	C	14798210	3	2	242	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	11	9605										
C12orf71	728858	broad.mit.edu	37	chr12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ctgtgtgtgtgaaggagtgtCatccttctctggctgctctg	13	9	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.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		Somatic					p.D200N	NM_001080406.1	NP_001073875.1	WXS	Illumina GAIIx	Phase_I	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	11	74	---	---	---	---	T	27234319	C	T	27234319	3	4	242	1	0	0	0	0	1	0	0	0	1712	826	29	2	215	2	C12orf71	12	27234319	Missense_Mutation	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	12436109	27234319	106617576	12	9606										
ANKRD52	283373	broad.mit.edu	37	chr12	56638934	56638934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	tttccttccaggtacgaaaaCgggctgtgttcaagtaacaa	9	9	1	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.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			Somatic					p.P815P	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	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	6	141	---	---	---	---	T	56638934	C	T	56638934	2	4	242	1	0	0	0	0	0	0	0	1	678	523	19	2		2	ANKRD52	12	56638934	Silent	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	29404615	56638934	77212961	13	9607										
CS	1431	broad.mit.edu	37	chr12	56667436	56667436	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	cttggctttaccctgctctaAgaggacattgggcacaatct	9	11	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.chr12:56667436A>C	ENST00000351328.3	-	10	1355	c.1165T>G	c.(1165-1167)Tta>Gta	p.L389V	CS_ENST00000548567.1_Missense_Mutation_p.L323V|CS_ENST00000542324.2_Missense_Mutation_p.L376V	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		Somatic				CS_ENST00000351328.3_Missense_Mutation_p.L389V|CS_ENST00000542324.2_Missense_Mutation_p.L376V	p.L323V			WXS	Illumina GAIIx	Phase_I	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	4	66	---	---	---	---	C	56667436	A	C	56667436	3	2	242	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	14	9608										
DYNC1H1	1778	broad.mit.edu	37	chr14	102442099	102442099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	aagaattcatttcctataacAtcaacatagacattcattat	2	8	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.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		Somatic					p.I103V	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	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	28	45	---	---	---	---	G	102442099	A	G	102442099	3	3	242	1	0	0	0	0	1	0	0	0	4841	217	8	2	313	2	DYNC1H1	14	102442099	Missense_Mutation	SNP	A	TCGA-KK-A7B4-01A-11D-A32B-08		102442099	4907441	15	9609										
TPSG1	8912	broad.mit.edu	37	chr16	1271955	1271955	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ccctgatgctgtgatgtggcGgcggatccagttcacgtagg	15	10	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			Somatic					p.R267C	NM_012467.3	NP_036599	WXS	Illumina GAIIx	Phase_I	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	11	16	---	---	---	---	A	1271955	G	A	1271955	1	1	242	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	16	9610										
ACSM2B	348158	broad.mit.edu	37	chr16	20563466	20563466	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	caaactggatcctctcttacCtttagaataaccagtgggtc	7	11	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.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_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K	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.(892-894)aaG>aaA		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			Somatic				ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K	p.K298K	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			6	1062	-			298					Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.894G>A	CCDS10586.1																																																																																				0.393	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Silent	16	151	16	151	---	---	---	---	T	20563466	C	T	20563466	5	4	242	1	0	0	0	0	0	0	1	0	184	695	24	2	875	2	ACSM2B	16	20563466	Splice_Site	SNP	C	TCGA-KK-A7B4-01A-11D-A32B-08	19291511	20563466	69791287	17	9611										
TP53	7157	broad.mit.edu	37	chr17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C													0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	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_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|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)tgcfs	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)	Somatic				TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs	p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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		25	29	25	29	---	---	---	---	C	7579316	-	C	7579315	7	5	242	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	18	9612										
COG1	9382	broad.mit.edu	37	chr17	71193480	71193480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ctgctgccagatccagccctGccatgtggcttgctcttctc	9	16	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.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			Somatic					p.L286L	NM_018714.2	NP_061184.1	WXS	Illumina GAIIx	Phase_I	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	24	105	---	---	---	---	T	71193480	G	T	71193480	2	4	242	1	0	0	0	0	0	0	0	1	3657	1306	46	3		3	COG1	17	71193480	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08	63614165	71193480	10001730	19	9613										
ZNF337	26152	broad.mit.edu	37	chr20	25657357	25657357	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	attaccatcatcttccggctGaagtcttgcccacgctctgc	7	15	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.chr20:25657357G>A	ENST00000376436.1	-	4	1106	c.567C>T	c.(565-567)ttC>ttT	p.F189F	ZNF337_ENST00000538750.1_Silent_p.F157F|ZNF337_ENST00000252979.5_Silent_p.F189F|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_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			Somatic				RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F	p.F189F			WXS	Illumina GAIIx	Phase_I					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	5	219	---	---	---	---	A	25657357	G	A	25657357	2	1	242	1	0	0	0	0	0	0	0	1	17850	1281	45	2		2	ZNF337	20	25657357	Silent	SNP	G	TCGA-KK-A7B4-01A-11D-A32B-08		25657357	37368163	20	9614										
HTR2C	3358	broad.mit.edu	37	chrX	113965814	113965814	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.9951690821256	0	2.2445652173913	0.333333333333333	1	0	ggtggacgcttcaaattcccAgacggggtacaaaactggcc	12	11	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.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			Somatic				HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P	p.P49P	NM_000868.2	NP_000859.1	WXS	Illumina GAIIx	Phase_I	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	8	73	---	---	---	---	C	113965814	A	C	113965814	2	2	242	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		113965814	41304746	21	9615										
HSD3B2	3284	broad.mit.edu	37	chr1	119964584	119964584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaacacatggcccactccaTacccgtacagcaaaaagctt	5	14	0	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.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		Somatic				HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	p.Y154H	NM_001166120.1	NP_001159592.1	WXS	Illumina GAIIx	Phase_I	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	59	110	---	---	---	---	C	119964584	T	C	119964584	3	2	243	1	0	0	0	0	1	0	0	0	7391	1406	49	2	470	2	HSD3B2	1	119964584	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		119964584	129286037	1	9616										
TTL	150465	broad.mit.edu	37	chr2	113260504	113260504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcagaagctgggtcttggtGgatcatcagtataatatcta	11	6	4	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.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																																	ENST00000233336.6				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			Somatic					p.V207V	NM_153712.4	NP_714923.1	WXS	Illumina GAIIx	Phase_I	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	812	+		Ovarian(717;0.024)				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	13	39	---	---	---	---	A	113260504	G	A	113260504	2	1	243	1	0	0	0	0	0	0	0	1	16718	1335	47	2		2	TTL	2	113260504	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		113260504	129938869	2	9617										
HMGCS1	3157	broad.mit.edu	37	chr5	43296014	43296014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caaggtaaaatctttatcatTtccctctgaaagagaagtcc	6	9	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.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		Somatic				HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	p.N249Y	NM_001098272.2	NP_001091742.1	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	A	43296014	T	A	43296014	3	1	243	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	3	9618										
PRIM2	5558	broad.mit.edu	37	chr6	57372333	57372333	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcagtctgatgaaagacttCagcctctgctcaatcacctc	7	13	5	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.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		Somatic				PRIM2_ENST00000389488.2_3'UTR	p.Q247K	NM_000947.3	NP_000938.2	WXS	Illumina GAIIx	Phase_I	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	4	41	---	---	---	---	A	57372333	C	A	57372333	3	1	243	1	0	0	0	0	1	0	0	0	12491	827	29	3	765	3	PRIM2	6	57372333	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		57372333	113742734	4	9619										
FEZF1	389549	broad.mit.edu	37	chr7	121942294	121942294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caggtgaaaggcttcttgtcGttgtgggtgtgcatgtggaa	16	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.chr7:121942294G>A	ENST00000442488.2	-	4	1252	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N|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			Somatic				FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1_ENST00000427185.2_Silent_p.N345N	p.N395N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	WXS	Illumina GAIIx	Phase_I	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	5	113	---	---	---	---	A	121942294	G	A	121942294	2	1	243	1	0	0	0	0	0	0	0	1	5825	1136	40	2		2	FEZF1	7	121942294	Silent	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08		121942294	37196369	5	9620										
IFNB1	3456	broad.mit.edu	37	chr9	21077860	21077860	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	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)aacfs		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		Somatic					p.N3fs	NM_002176.2	NP_002167.1	WXS	Illumina GAIIx	Phase_I	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	243	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	6	9621										
HSPA5	3309	broad.mit.edu	37	chr9	128003114	128003115	+	Frame_Shift_Del	DEL	AT	AT	-													0	0	1	0	NA	0	1	1	0	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)tatfs		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)	Somatic					p.Y65fs	NM_005347.4	NP_005338.1	WXS	Illumina GAIIx	Phase_I	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	243	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	7	9622										
SIPA1	6494	broad.mit.edu	37	chr11	65413798	65413798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgctcgcacttccagcacgTgttcctagtggtgcgggcac	12	15	0	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.chr11:65413798T>C	ENST00000394224.3	+	7	1666	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000534313.1_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		Somatic				SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A	p.V457A	NM_153253.29	NP_694985.29	WXS	Illumina GAIIx	Phase_I	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	8	44	---	---	---	---	C	65413798	T	C	65413798	3	2	243	1	0	0	0	0	1	0	0	0	14328	1696	59	2	1392	2	SIPA1	11	65413798	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		65413798	69592718	8	9623										
CAPN5	726	broad.mit.edu	37	chr11	76823690	76823690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgaaaagcccaacgcctacgCgggcatcttccacttccact	7	17	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.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		Somatic				CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V	p.A118V	NM_004055.4	NP_004046.2	WXS	Illumina GAIIx	Phase_I	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	8	52	---	---	---	---	T	76823690	C	T	76823690	3	4	243	1	0	0	0	0	1	0	0	0	2629	768	27	2	363	2	CAPN5	11	76823690	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08	11409892	76823690	58182826	9	9624										
FAM55D	54827	broad.mit.edu	37	chr11	114450926	114450926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cattaggtatatgagttttcCtctcaggcattccttcattt	6	9	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.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		Somatic				NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	p.G343R	NM_001077639.1	NP_001071107.1	WXS	Illumina GAIIx	Phase_I					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	17	83	---	---	---	---	T	114450926	C	T	114450926	3	4	243	1	0	0	0	0	1	0	0	0	5587	690	24	2	615	2	FAM55D	11	114450926	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08	37627236	114450926	20555590	10	9625										
AVPR1A	552	broad.mit.edu	37	chr12	63544328	63544328	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaagaatgccacggccaggtCggccaggctgaggtgtcgga	17	10	0	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.chr12:63544328C>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	552				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		Somatic					p.D97Y	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	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	8	20	---	---	---	---	A	63544328	C	A	63544328	3	1	243	1	0	0	0	0	1	0	0	0	1231	884	31	3	975	3	AVPR1A	12	63544328	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		63544328	70307567	11	9626										
RASSF9	9182	broad.mit.edu	37	chr12	86198925	86198925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaacactttttacctcttttTctatttcagcagagagctta	4	9	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.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		Somatic					p.E288G	NM_005447.3	NP_005438.2	WXS	Illumina GAIIx	Phase_I	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	21	97	---	---	---	---	C	86198925	T	C	86198925	3	2	243	1	0	0	0	0	1	0	0	0	13093	1783	62	2	448	2	RASSF9	12	86198925	Missense_Mutation	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08	22654597	86198925	47652970	12	9627										
STAB2	55576	broad.mit.edu	37	chr12	104056648	104056648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agattctggcaaatgatgtgGcaatggaagaaattgagatc	12	4	1	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.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		Somatic					p.A632T	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	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	10	74	---	---	---	---	A	104056648	G	A	104056648	3	1	243	1	0	0	0	0	1	0	0	0	15237	1203	42	2	1964	2	STAB2	12	104056648	Missense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	17857723	104056648	29795247	13	9628										
BMP4	652	broad.mit.edu	37	chr14	54416914	54416914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaccagggtctgcacaatggCatggttggttgagttgaggt	16	6	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.chr14:54416914C>T	ENST00000245451.4	-	4	1456	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	BMP4_ENST00000417573.1_Missense_Mutation_p.A355T|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	37	54	---	---	---	---	T	54416914	C	T	54416914	3	4	243	1	0	0	0	0	1	0	0	0	1462	710	25	2	167	2	BMP4	14	54416914	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		54416914	52932626	14	9629										
KRT27	342574	broad.mit.edu	37	chr17	38936677	38936677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accattgatgtccgcctccaCgctctggtgaagcgctagct	10	14	1	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		Somatic					p.V187M	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	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	7	20	---	---	---	---	T	38936677	C	T	38936677	3	4	243	1	0	0	0	0	1	0	0	0	8464	536	19	2	844	2	KRT27	17	38936677	Missense_Mutation	SNP	C	TCGA-KK-A8I4-01A-11D-A364-08		38936677	42258533	15	9630										
AXL	558	broad.mit.edu	37	chr19	41758339	41758339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgaccatcccaacgtcatgAggctcatcggtgagagaggg	13	10	2	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	36	---	---	---	---	G	41758339	A	G	41758339	3	3	243	1	0	0	0	0	1	0	0	0	1238	295	11	2	1853	2	AXL	19	41758339	Missense_Mutation	SNP	A	TCGA-KK-A8I4-01A-11D-A364-08		41758339	17370644	16	9631										
KLK12	43849	broad.mit.edu	37	chr19	51534119	51534119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcccgggatacacaccatgGcaggtggcatgggagacgat	14	11	0	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*	KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250352.11_Nonsense_Mutation_p.C62*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000391804.3_5'Flank|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*			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*		Somatic				KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172*	p.C62*			WXS	Illumina GAIIx	Phase_I	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	8	121	---	---	---	---	T	51534119	G	T	51534119	4	4	243	1	0	0	0	0	0	1	0	0	8400	1204	42	3	300	3	KLK12	19	51534119	Nonsense_Mutation	SNP	G	TCGA-KK-A8I4-01A-11D-A364-08	9775780	51534119	7594864	17	9632										
C20orf26	26074	broad.mit.edu	37	chr20	20232251	20232251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctttgcagccactgttttaaTgataaagattatgcactgat	7	7	0	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.chr20:20232251T>C	ENST00000245957.5	+	20	2248	c.2172T>C	c.(2170-2172)aaT>aaC	p.N724N	C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000377293.1_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			Somatic				C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N|C20orf26_ENST00000377293.1_Silent_p.N80N	p.N724N	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	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	17	170	---	---	---	---	C	20232251	T	C	20232251	2	2	243	1	0	0	0	0	0	0	0	1	2106	1461	51	2		2	C20orf26	20	20232251	Silent	SNP	T	TCGA-KK-A8I4-01A-11D-A364-08		20232251	42793269	18	9633										
GRIK3	2899	broad.mit.edu	37	chr1	37346388	37346388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	gtgcttccaacgcagctggaTgtggggcacctccagggcat	14	12	0	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.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		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L	p.I133L	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	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	20	38	---	---	---	---	G	37346388	T	G	37346388	3	3	244	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	9634										
NRD1	4898	broad.mit.edu	37	chr1	52280418	52280418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	tgtaatagaaatgctgaacaCtgaataagtagaattttgct	8	4	0	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.chr1:52280418C>T	ENST00000354831.7	-	14	1900	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M	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		Somatic				NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000544028.1_Missense_Mutation_p.V371M	p.V571M	NM_002525.2	NP_002516.2	WXS	Illumina GAIIx	Phase_I	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	12	18	---	---	---	---	T	52280418	C	T	52280418	3	4	244	1	0	0	0	0	1	0	0	0	10645	565	20	2	2028	2	NRD1	1	52280418	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	14934030	52280418	196970203	2	9635										
SLC8A1	6546	broad.mit.edu	37	chr2	40657386	40657386	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	gatgaaatcccattgaaaagGtgggtgaaagacttaatcgc	11	6	0	4	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_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_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																																						ENST00000406785.2																			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		Somatic				SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_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_ENST00000542024.1_Missense_Mutation_p.T12S	p.T12S			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			2	224	-								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	9	30	---	---	---	---	C	40657386	G	C	40657386	3	2	244	1	0	0	0	0	1	0	0	0	14706	1261	44	4	3034	4	SLC8A1	2	40657386	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		40657386	202541987	3	9636										
CNTNAP5	129684	broad.mit.edu	37	chr2	125281979	125281979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	tgaagcagcacccccggctcCagacagcacttgggtgcaga	12	14	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.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		Somatic					p.P475L	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	T	125281979	C	T	125281979	3	4	244	1	0	0	0	0	1	0	0	0	3650	594	21	2	1458	2	CNTNAP5	2	125281979	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	84624593	125281979	117917394	4	9637										
UBXN4	23190	broad.mit.edu	37	chr2	136527363	136527363	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	acaaaaaaacttgaagaaagGagagaagagaaaagaaaaga	10	2	0	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.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			Somatic				UBXN4_ENST00000490163.1_3'UTR	p.R209R	NM_014607.3	NP_055422.1	WXS	Illumina GAIIx	Phase_I	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	6	32	---	---	---	---	A	136527363	G	A	136527363	2	1	244	1	0	0	0	0	0	0	0	1	16913	1165	41	2		2	UBXN4	2	136527363	Silent	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	11245384	136527363	106672010	5	9638										
GIGYF2	26058	broad.mit.edu	37	chr2	233677165	233677165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ccgtgccagatactggctctAtctgggagcttcagccaaca	10	13	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.chr2:233677165A>G	ENST00000409547.1	+	20	2382	c.2071A>G	c.(2071-2073)Atc>Gtc	p.I691V	GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.I713V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V	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		Somatic				GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V	p.I713V			WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	G	233677165	A	G	233677165	3	3	244	1	0	0	0	0	1	0	0	0	6378	449	16	2	2203	2	GIGYF2	2	233677165	Missense_Mutation	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08	97149802	233677165	9522208	6	9639										
XIRP1	165904	broad.mit.edu	37	chr3	39225934	39225934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	tggagataaatgttggggagGagggagaatctcggctggaa	18	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.chr3:39225934G>A	ENST00000340369.3	-	2	5231	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F	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		Somatic				XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR	p.S1668F	NM_194293.2	NP_919269.2	WXS	Illumina GAIIx	Phase_I	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	13	61	---	---	---	---	A	39225934	G	A	39225934	3	1	244	1	0	0	0	0	1	0	0	0	17426	1174	41	2	532	2	XIRP1	3	39225934	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		39225934	158796496	7	9640										
PRSS48	345062	broad.mit.edu	37	chr4	152212552	152212552	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ctgtagctgaagctgttgctTgcatacagggctgggaagag	15	7	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.chr4:152212552T>G	ENST00000455694.2	+	5	936	c.934T>G	c.(934-936)Tgc>Ggc	p.C312G	PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	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		Somatic				PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron	p.C312G	NM_183375.2	NP_899231.2	WXS	Illumina GAIIx	Phase_I	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	13	23	---	---	---	---	G	152212552	T	G	152212552	3	3	244	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		152212552	38941724	8	9641										
TCERG1	10915	broad.mit.edu	37	chr5	145890149	145890149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	atgttgatgacctggatcgcCggggtccacccccacctccc	10	17	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.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		Somatic				TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G	p.R1081G	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	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	6	30	---	---	---	---	G	145890149	C	G	145890149	3	3	244	1	0	0	0	0	1	0	0	0	15682	643	23	4	3327	4	TCERG1	5	145890149	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		145890149	35025111	9	9642										
USP42	84132	broad.mit.edu	37	chr7	6187373	6187373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	gctctccttgtttccaggtcCcatgatgtgaaaaatggagg	11	9	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.chr7:6187373C>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			Somatic					p.S412S	NM_032172.2	NP_115548.1	WXS	Illumina GAIIx	Phase_I	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	6	26	---	---	---	---	T	6187373	C	T	6187373	2	4	244	1	0	0	0	0	0	0	0	1	17070	610	22	2		2	USP42	7	6187373	Silent	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		6187373	152951290	10	9643										
ZAN	7455	broad.mit.edu	37	chr7	100371059	100371059	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ggccacatcttgagtggaacCtcctgcgtgccccttggcca	11	15	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.chr7:100371059C>A	ENST00000348028.3	+	0	5742				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_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			Somatic				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	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	13	16	---	---	---	---	A	100371059	C	A	100371059	1	1	244	0	1	0	0	0	0	0	0	0	17510	668	24	1		1	ZAN	7	100371059	RNA	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	94183686	100371059	58767604	11	9644										
GRM8	2918	broad.mit.edu	37	chr7	126746596	126746596	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	gcctccacaccgctctcaccAtagttcccctcagaagccag	6	19	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.chr7:126746596A>T	ENST00000339582.2	-	3	1489	c.681T>A	c.(679-681)taT>taA	p.Y227*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*|GRM8_ENST00000480995.1_5'UTR|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	2918				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)	Somatic				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227*	p.Y227*			WXS	Illumina GAIIx	Phase_I	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	12	26	---	---	---	---	T	126746596	A	T	126746596	4	4	244	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	12	9645										
PIWIL2	55124	broad.mit.edu	37	chr8	22137065	22137065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	atgtatttggaaagccagagGaaccaagcacacagaggggg	14	7	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.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		Somatic				PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K	p.E56K	NM_018068.3	NP_060538.2	WXS	Illumina GAIIx	Phase_I	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	11	21	---	---	---	---	A	22137065	G	A	22137065	3	1	244	1	0	0	0	0	1	0	0	0	11958	1175	41	2	168	2	PIWIL2	8	22137065	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		22137065	124226957	13	9646										
MYOF	26509	broad.mit.edu	37	chr10	95072931	95072931	+	Frame_Shift_Del	DEL	G	G	-													0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	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_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000371501.4_Frame_Shift_Del_p.P1912fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs	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)cctfs		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		Somatic				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			WXS	Illumina GAIIx	Phase_I	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	244	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	14	9647										
YPEL4	219539	broad.mit.edu	37	chr11	57413471	57413471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ccctcagtcccagccgttgtCcttcaccatgtgtgacattt	7	15	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.chr11:57413471C>T	ENST00000524669.1	-	5	3089	c.367G>A	c.(367-369)Gac>Aac	p.D123N	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000534711.1_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		Somatic				AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N	p.D123N			WXS	Illumina GAIIx	Phase_I	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	22	33	---	---	---	---	T	57413471	C	T	57413471	3	4	244	1	0	0	0	0	1	0	0	0	17489	855	30	2	20	2	YPEL4	11	57413471	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08		57413471	77593045	15	9648										
ARHGEF17	9828	broad.mit.edu	37	chr11	73020726	73020726	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ccgggagtggggtagtggctCtccgccctgcgtcccaggtc	16	14	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.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		Somatic					p.S348F	NM_014786.3	NP_055601.2	WXS	Illumina GAIIx	Phase_I	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	21	39	---	---	---	---	T	73020726	C	T	73020726	3	4	244	1	0	0	0	0	1	0	0	0	900	913	32	2	1045	2	ARHGEF17	11	73020726	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	15607255	73020726	61985790	16	9649										
TM7SF3	51768	broad.mit.edu	37	chr12	27143491	27143491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	gtcccaaacaatgacattgtAtatgacaccttgtcccggga	8	11	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.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		Somatic				TM7SF3_ENST00000542667.1_Intron	p.Y254H	NM_016551.2	NP_057635.1	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	G	27143491	A	G	27143491	3	3	244	1	0	0	0	0	1	0	0	0	15972	449	16	2	980	2	TM7SF3	12	27143491	Missense_Mutation	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08		27143491	106708404	17	9650										
SLC16A7	9194	broad.mit.edu	37	chr12	60173227	60173227	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	aattggtggatttaactggaGaatataaatacatgtacatg	9	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.chr12:60173227G>A	ENST00000261187.4	+	5	1368	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_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		Somatic				SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K	p.E402K	NM_004731.4	NP_004722.2	WXS	Illumina GAIIx	Phase_I	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	13	30	---	---	---	---	A	60173227	G	A	60173227	3	1	244	1	0	0	0	0	1	0	0	0	14413	943	33	2	1218	2	SLC16A7	12	60173227	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	33029736	60173227	73678668	18	9651										
ANKRD13A	88455	broad.mit.edu	37	chr12	110475354	110475354	+	Frame_Shift_Del	DEL	A	A	-													0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	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)aaafs		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		Somatic				C12orf76_ENST00000546651.2_Intron	p.K590fs	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	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	244	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	19	9652										
SOX1	6656	broad.mit.edu	37	chr13	112722311	112722311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ctgcgcgcgctgcacatgaaGgagcacccggattacaagta	12	12	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.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			Somatic					p.K113K	NM_005986.2	NP_005977.2	WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	A	112722311	G	A	112722311	2	1	244	1	0	0	0	0	0	0	0	1	14940	991	35	2		2	SOX1	13	112722311	Silent	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		112722311	2447567	20	9653										
PLA2G4E	123745	broad.mit.edu	37	chr15	42279575	42279575	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ggcaggatcggctcgtcttcTgcaggggagggagggatgaa	19	7	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.chr15:42279575T>G	ENST00000399518.3	-	17	2318		c.e17-2		CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Splice_Site	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			Somatic				PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA		NM_001206670.1	NP_001193599.1	WXS	Illumina GAIIx	Phase_I	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	4	12	---	---	---	---	G	42279575	T	G	42279575	5	3	244	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	21	9654										
RGS9BP	388531	broad.mit.edu	37	chr19	33167292	33167292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	aacctgcggcaggagctgcaAaagacgcgccagaaggcgca	14	12	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.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			Somatic					p.Q41Q	NM_207391.2	NP_997274.2	WXS	Illumina GAIIx	Phase_I	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	7	13	---	---	---	---	G	33167292	A	G	33167292	2	3	244	1	0	0	0	0	0	0	0	1	13314	11	1	2		2	RGS9BP	19	33167292	Silent	SNP	A	TCGA-KK-A8I5-01A-11D-A364-08		33167292	25961691	22	9655										
CYP2B6	1555	broad.mit.edu	37	chr19	41510021	41510021	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	ggacaaggctgaggccttctCtggccggggaaaaatcgcca	14	11	1	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_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y	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		Somatic				CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y|CYP2B6_ENST00000598834.1_3'UTR	p.S96Y	NM_000767.4	NP_000758.1	WXS	Illumina GAIIx	Phase_I	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	10	49	---	---	---	---	A	41510021	C	A	41510021	3	1	244	1	0	0	0	0	1	0	0	0	4164	913	32	3	293	3	CYP2B6	19	41510021	Missense_Mutation	SNP	C	TCGA-KK-A8I5-01A-11D-A364-08	8342729	41510021	17618962	23	9656										
PCSK2	5126	broad.mit.edu	37	chr20	17207956	17207956	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	cactcccaaagaaggatgaaGggtggttgtgtctcccagtg	13	9	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.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		Somatic				PCSK2_ENST00000377899.1_Intron|PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N	p.K2N	NM_002594.3	NP_002585.2	WXS	Illumina GAIIx	Phase_I	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	9	38	---	---	---	---	C	17207956	G	C	17207956	3	2	244	1	0	0	0	0	1	0	0	0	11601	991	35	4	8	4	PCSK2	20	17207956	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08		17207956	45817564	24	9657										
C20orf186	149954	broad.mit.edu	37	chr20	31680313	31680313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	catcgactacccattggggtGgccagctgtgtctcccaagc	11	14	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.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		Somatic					p.W398L	NM_182519.2	NP_872325.2	WXS	Illumina GAIIx	Phase_I	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	9	17	---	---	---	---	T	31680313	G	T	31680313	3	4	244	1	0	0	0	0	1	0	0	0	2098	1357	47	1	1227	1	C20orf186	20	31680313	Missense_Mutation	SNP	G	TCGA-KK-A8I5-01A-11D-A364-08	14472357	31680313	31345207	25	9658										
TMEM31	203562	broad.mit.edu	37	chrX	102968708	102968708	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.29280397022333	0	1.68064516129032	0.4	1	0	tttttgagctttatcctgaaTttcttctggtgtttaaagaa	7	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.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		Somatic				GLRA4_ENST00000372617.4_Intron	p.F97I	NM_182541.2	NP_872347.2	WXS	Illumina GAIIx	Phase_I	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	18	34	---	---	---	---	A	102968708	T	A	102968708	3	1	244	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	26	9659										
CLCA2	9635	broad.mit.edu	37	chr1	86898058	86898058	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	ctttccatttttaggtgttcAtctgacatcacaggcatttt	6	9	3	1	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			Somatic					p.S197S	NM_006536.5	NP_006527.1	WXS	Illumina GAIIx	Phase_I	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	7	87	---	---	---	---	G	86898058	A	G	86898058	2	3	245	1	0	0	0	0	0	0	0	1	3458	204	8	2		2	CLCA2	1	86898058	Silent	SNP	A	TCGA-KK-A8I6-01A-11D-A364-08		86898058	162352563	1	9660										
SPR	6697	broad.mit.edu	37	chr2	73115592	73115592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gtcctggcctcaacagaaccGtggttaacatctcgtccctc	8	15	2	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	A	73115592	G	A	73115592	3	1	245	1	0	0	0	0	1	0	0	0	15090	1145	40	2	460	2	SPR	2	73115592	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		73115592	170083781	2	9661										
LRP1B	53353	broad.mit.edu	37	chr2	141232707	141232707	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	atttatgttactggaccaacCtttgtgtctatgagatccat	7	8	1	1	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.(9625-9627)Gtc>Atc		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)	Somatic					p.V3209I	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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.9625G>A	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	13	89	---	---	---	---	T	141232707	C	T	141232707	5	4	245	1	0	0	0	0	0	0	1	0	8955	695	24	2	4302	2	LRP1B	2	141232707	Splice_Site	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	68117115	141232707	101966666	3	9662										
NEB	4703	broad.mit.edu	37	chr2	152381049	152381049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	ctcactggcctgtttggctgCctgtgtggccttcttgatgt	12	11	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.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_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T|NEB_ENST00000397345.3_Missense_Mutation_p.A7452T|NEB_ENST00000427231.2_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																																						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.(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		Somatic				NEB_ENST00000427231.2_Missense_Mutation_p.A7452T|NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000409198.1_Missense_Mutation_p.A5751T|NEB_ENST00000172853.10_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T	p.A7452T	NM_001164508.1	NP_001157980	WXS	Illumina GAIIx	Phase_I	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	4	129	---	---	---	---	T	152381049	C	T	152381049	3	4	245	1	0	0	0	0	1	0	0	0	10302	739	26	2	3347	2	NEB	2	152381049	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	11148342	152381049	90818324	4	9663										
ABCB11	8647	broad.mit.edu	37	chr2	169826554	169826554	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tggactaagacttccacaaaCcttactcagcacttcttgca	5	13	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.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			Somatic						NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	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	4	87	---	---	---	---	A	169826554	C	A	169826554	5	1	245	1	0	0	0	0	0	0	1	0	42	521	18	3	2211	3	ABCB11	2	169826554	Splice_Site	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	17445505	169826554	73372819	5	9664										
AOX1	316	broad.mit.edu	37	chr2	201515849	201515849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gaaaagttcaatgcagagaaTtattggaagaagaaaggact	11	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.chr2:201515849T>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		Somatic				AOX1_ENST00000485106.1_3'UTR	p.N1000K	NM_001159.3	NP_001150.3	WXS	Illumina GAIIx	Phase_I	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	10	110	---	---	---	---	G	201515849	T	G	201515849	3	3	245	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	9665										
SPHKAP	80309	broad.mit.edu	37	chr2	228860280	228860280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tgtgtcatctgggttgtcttCctcattggcaagctgggtcc	12	10	4	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.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		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K	p.E1527K	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	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	4	133	---	---	---	---	T	228860280	C	T	228860280	3	4	245	1	0	0	0	0	1	0	0	0	15047	864	30	2	543	2	SPHKAP	2	228860280	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	27344431	228860280	14339093	7	9666										
GMPPB	29925	broad.mit.edu	37	chr3	49760869	49760869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	cttctccagcacctgcgacaTgtagctcacggccaggatca	9	15	3	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.chr3:49760869T>G	ENST00000480687.1	-	3	282	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR			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		Somatic				GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR	p.M56L			WXS	Illumina GAIIx	Phase_I	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	10	64	---	---	---	---	G	49760869	T	G	49760869	3	3	245	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	9667										
FRAS1	80144	broad.mit.edu	37	chr4	79254489	79254489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	taactgcacagactgtgggcCttcccatgtgctgttggatg	12	10	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.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		Somatic				FRAS1_ENST00000325942.6_Missense_Mutation_p.P734L	p.P734L	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	T	79254489	C	T	79254489	3	4	245	1	0	0	0	0	1	0	0	0	6042	681	24	2	2275	2	FRAS1	4	79254489	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		79254489	111899787	9	9668										
TAAR8	83551	broad.mit.edu	37	chr6	132874168	132874168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	ttcacagttgctgtgatgtgGcattttgttactcttctgtc	9	8	3	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.chr6:132874168G>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		Somatic					p.A113S	NM_053278.1	NP_444508.1	WXS	Illumina GAIIx	Phase_I	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	6	193	---	---	---	---	T	132874168	G	T	132874168	3	4	245	1	0	0	0	0	1	0	0	0	15490	1203	42	3	339	3	TAAR8	6	132874168	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		132874168	38240899	10	9669										
RAD54B	25788	broad.mit.edu	37	chr8	95416419	95416419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	caagagggaaacagttcttaTtgaatacccactggtgattc	9	8	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.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		Somatic					p.N277S	NM_012415.3	NP_036547.1	WXS	Illumina GAIIx	Phase_I	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	28	58	---	---	---	---	C	95416419	T	C	95416419	3	2	245	1	0	0	0	0	1	0	0	0	12992	1493	52	2	1942	2	RAD54B	8	95416419	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		95416419	50947603	11	9670										
CSMD3	114788	broad.mit.edu	37	chr8	113237027	113237027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	attgtgcaaaccgtgttcaaGttgggatcaaatcgtaccgc	10	9	2	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.chr8:113237027G>T	ENST00000297405.5	-	71	11341	c.11097C>A	c.(11095-11097)aaC>aaA	p.N3699K	CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K	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)	Somatic				CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K	p.N3699K	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	54	122	---	---	---	---	T	113237027	G	T	113237027	3	4	245	1	0	0	0	0	1	0	0	0	3946	1020	36	3	30	3	CSMD3	8	113237027	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	17820608	113237027	33126995	12	9671										
PTGS1	5742	broad.mit.edu	37	chr9	125154632	125154632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tcaagggtctcctagggaatCccatctgttctccggagtac	10	12	4	0	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_ENST00000540753.1_Missense_Mutation_p.P475S|PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S	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		Somatic				PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S	p.P537S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	WXS	Illumina GAIIx	Phase_I	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	6	94	---	---	---	---	T	125154632	C	T	125154632	3	4	245	1	0	0	0	0	1	0	0	0	12755	855	30	2	1651	2	PTGS1	9	125154632	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08		125154632	16058799	13	9672										
GPR158	57512	broad.mit.edu	37	chr10	25464746	25464746	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tggacacactgacacacgccAccaacttcctcaacgtgatg	7	15	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.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		Somatic				GPR158-AS1_ENST00000449643.1_RNA	p.T133P	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	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	5	78	---	---	---	---	C	25464746	A	C	25464746	3	2	245	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	14	9673										
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	4	0	1	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)	Somatic					p.G132V	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	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	14	51	---	---	---	---	T	89692911	G	T	89692911	3	4	245	1	0	0	0	0	1	0	0	0	12738	1261	44	3	413	3	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	64228165	89692911	45841836	15	9674										
TACC2	10579	broad.mit.edu	37	chr10	123970988	123970988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	atgaccccaattttaaccctTtttcttccacctcaaaaatg	2	13	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.chr10:123970988T>G	ENST00000369005.1	+	9	7388	c.7048T>G	c.(7048-7050)Ttt>Gtt	p.F2350V	TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V	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		Somatic				TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V	p.F2350V	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	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	22	152	---	---	---	---	G	123970988	T	G	123970988	3	3	245	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	16	9675										
UBQLNL	143630	broad.mit.edu	37	chr11	5537357	5537357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gaatgggctagagatctggaGccctgcttggacttgatgac	14	8	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.chr11:5537357G>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			Somatic				HBG2_ENST00000380259.2_Intron	p.G105G	NM_145053.4	NP_659490.4	WXS	Illumina GAIIx	Phase_I	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	6	82	---	---	---	---	A	5537357	G	A	5537357	2	1	245	1	0	0	0	0	0	0	0	1	16897	958	34	2		2	UBQLNL	11	5537357	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08		5537357	129469159	17	9676										
RAG1	5896	broad.mit.edu	37	chr11	36597054	36597054	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tctacatttgtactctttgtGatgccacccgtctggaagcc	8	12	3	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.chr11:36597054G>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		Somatic					p.D734H	NM_000448.2	NP_000439	WXS	Illumina GAIIx	Phase_I	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	10	80	---	---	---	---	C	36597054	G	C	36597054	3	2	245	1	0	0	0	0	1	0	0	0	13003	1290	45	4	2202	4	RAG1	11	36597054	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	31059697	36597054	98409462	18	9677										
PEX16	9409	broad.mit.edu	37	chr11	45937359	45937359	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	cgcactccagcacgctcagcCatgtcagcagcttctgctgg	10	16	3	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.chr11:45937359C>T	ENST00000378750.5	-	4	497	c.254G>A	c.(253-255)tGg>tAg	p.W85*	PEX16_ENST00000241041.3_Nonsense_Mutation_p.W85*|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000532681.1_5'UTR			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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	10	128	---	---	---	---	T	45937359	C	T	45937359	4	4	245	1	0	0	0	0	0	1	0	0	11743	595	21	2	881	2	PEX16	11	45937359	Nonsense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	9340305	45937359	89069157	19	9678										
OR4A5	81318	broad.mit.edu	37	chr11	51412102	51412102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	aagaaatggtctataaatagCtggcccatgcaaccttggaa	9	8	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.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		Somatic					p.Q98H	NM_001005272.3	NP_001005272.3	WXS	Illumina GAIIx	Phase_I	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	21	38	---	---	---	---	A	51412102	C	A	51412102	3	1	245	1	0	0	0	0	1	0	0	0	11043	796	28	3	657	3	OR4A5	11	51412102	Missense_Mutation	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	5474743	51412102	83594414	20	9679										
CATSPER1	117144	broad.mit.edu	37	chr11	65793293	65793293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tggtggaaggactcactgtaGggattgggtccatgggggag	19	5	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.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			Somatic					p.P186P	NM_053054.3	NP_444282.3	WXS	Illumina GAIIx	Phase_I	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	5	55	---	---	---	---	A	65793293	G	A	65793293	2	1	245	1	0	0	0	0	0	0	0	1	2687	987	35	2		2	CATSPER1	11	65793293	Silent	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	14381191	65793293	69213223	21	9680										
TMEM136	219902	broad.mit.edu	37	chr11	120198157	120198157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	cttttcatcacaggatggcaTtagctctgtgtctgcaggtg	11	9	4	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.chr11:120198157T>C	ENST00000375095.2	+	2	248	c.7T>C	c.(7-9)Tta>Cta	p.L3L	TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Silent_p.L25L	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	68	---	---	---	---	C	120198157	T	C	120198157	2	2	245	1	0	0	0	0	0	0	0	1	16049	1490	52	2		2	TMEM136	11	120198157	Silent	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	54404864	120198157	14808359	22	9681										
CHD4	1108	broad.mit.edu	37	chr12	6711235	6711235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tcttcttcttgccaggagtaTagtcgctgccctcactgtct	8	13	5	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.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		Somatic				CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C|CHD4_ENST00000357008.2_Missense_Mutation_p.Y110C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C	p.Y110C			WXS	Illumina GAIIx	Phase_I	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	9	39	---	---	---	---	C	6711235	T	C	6711235	3	2	245	1	0	0	0	0	1	0	0	0	3327	1406	49	2	5557	2	CHD4	12	6711235	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		6711235	127140660	23	9682										
C12orf26	84190	broad.mit.edu	37	chr12	82796857	82796857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gaaatcaagggagtttgcagTgtgggttgttgctaccacct	13	7	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.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			Somatic				METTL25_ENST00000547357.1_3'UTR	p.S409S	NM_032230.2	NP_115606.2	WXS	Illumina GAIIx	Phase_I					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	7	45	---	---	---	---	C	82796857	T	C	82796857	2	2	245	1	0	0	0	0	0	0	0	1	1679	1693	59	2		2	C12orf26	12	82796857	Silent	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08	76085622	82796857	51055038	24	9683										
MDGA2	161357	broad.mit.edu	37	chr14	47600938	47600938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	tgttttattggacagtctaaAcgacaccatcttatcaggaa	7	8	3	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.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_ENST00000426342.1_Missense_Mutation_p.F4V|MDGA2_ENST00000357362.3_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		Somatic				MDGA2_ENST00000439988.3_Missense_Mutation_p.F302V|MDGA2_ENST00000399232.2_Missense_Mutation_p.F233V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V	p.F4V	NM_182830.3	NP_878250.2	WXS	Illumina GAIIx	Phase_I	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	32	99	---	---	---	---	C	47600938	A	C	47600938	3	2	245	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	25	9684										
GPR114	221188	broad.mit.edu	37	chr16	57608859	57608859	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	ctgcgggagcgggcggatgcAccaagtgtcagggcctgcca	17	12	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_ENST00000349457.3_Silent_p.A447A|GPR114_ENST00000394361.4_3'UTR	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			Somatic				GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A	p.A447A	NM_153837.1	NP_722579.1	WXS	Illumina GAIIx	Phase_I	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	4	29	---	---	---	---	T	57608859	A	T	57608859	2	4	245	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		57608859	32745894	26	9685										
MUC16	94025	broad.mit.edu	37	chr19	9085673	9085673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gtcccatagccaggaagtgaTtgcattcctcctactgattg	9	11	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.chr19:9085673T>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		Somatic					p.I2048V	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	4	115	---	---	---	---	C	9085673	T	C	9085673	3	2	245	1	0	0	0	0	1	0	0	0	9973	1493	52	2	37717	2	MUC16	19	9085673	Missense_Mutation	SNP	T	TCGA-KK-A8I6-01A-11D-A364-08		9085673	50043310	27	9686										
OR10H3	26532	broad.mit.edu	37	chr19	15852463	15852463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	cgcatgctggctgatctgctCttcacccatcgttccatcac	7	16	4	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.chr19:15852463C>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			Somatic					p.L87L	NM_013938.1	NP_039226.1	WXS	Illumina GAIIx	Phase_I	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	11	294	---	---	---	---	T	15852463	C	T	15852463	2	4	245	1	0	0	0	0	0	0	0	1	10907	900	32	2		2	OR10H3	19	15852463	Silent	SNP	C	TCGA-KK-A8I6-01A-11D-A364-08	6766790	15852463	43276520	28	9687										
NDUFA13	51079	broad.mit.edu	37	chr19	19627082	19627082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	ggtgaagcaggacatgcctcCgccggggggctatgggccca	17	12	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.chr19:19627082C>T	ENST00000507754.4	+	1	519	c.35C>T	c.(34-36)cCg>cTg	p.P12L	NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|TSSK6_ENST00000585580.3_5'Flank|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P12L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|TSSK6_ENST00000360913.3_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L			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		Somatic				NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000507754.4_Missense_Mutation_p.P12L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L	p.P12L			WXS	Illumina GAIIx	Phase_I					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	16	36	---	---	---	---	T	19627082	C	T	19627082	3	4	245	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	29	9688										
DYRK1B	9149	broad.mit.edu	37	chr19	40316880	40316880	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.12820512820513	3.66666666666667	0.666666666666667	1	1	0	gggcccccacaatatcggttGctgtagcggtaggtccggtt	14	11	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.chr19:40316880G>C	ENST00000593685.1	-	10	1926	c.1458C>G	c.(1456-1458)agC>agG	p.S486R	DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R|DYRK1B_ENST00000597639.1_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		Somatic				DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R	p.S486R			WXS	Illumina GAIIx	Phase_I	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	25	42	---	---	---	---	C	40316880	G	C	40316880	3	2	245	1	0	0	0	0	1	0	0	0	4855	1310	46	4	439	4	DYRK1B	19	40316880	Missense_Mutation	SNP	G	TCGA-KK-A8I6-01A-11D-A364-08	20689798	40316880	18812103	30	9689										
AGPS	8540	broad.mit.edu	37	chr2	178386036	178386036	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	gcaggtgcttgtatctacttCtattttgcctttaactacag	7	9	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.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			Somatic				AGPS_ENST00000409888.1_Intron	p.F579F	NM_003659.3	NP_003650.1	WXS	Illumina GAIIx	Phase_I	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	33	75	---	---	---	---	T	178386036	C	T	178386036	2	4	246	1	0	0	0	0	0	0	0	1	394	912	32	2		2	AGPS	2	178386036	Silent	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		178386036	64813337	1	9690										
FAM190A	401145	broad.mit.edu	37	chr4	91229784	91229784	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	agaccaggggaagacattctGttggttttagtagttcacga	12	6	2	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.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		Somatic				CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F	p.V117F	NM_001145065.1	NP_001138537.1	WXS	Illumina GAIIx	Phase_I					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	3	46	---	---	---	---	T	91229784	G	T	91229784	3	4	246	1	0	0	0	0	1	0	0	0	5521	1377	48	3	351	3	FAM190A	4	91229784	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		91229784	99924492	2	9691										
SAMD9	54809	broad.mit.edu	37	chr7	92735120	92735120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	ttttgagacacagtttggtcTttaggagcatttttactggg	11	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.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			Somatic					p.K97K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	WXS	Illumina GAIIx	Phase_I	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	68	166	---	---	---	---	C	92735120	T	C	92735120	2	2	246	1	0	0	0	0	0	0	0	1	13826	1606	56	2		2	SAMD9	7	92735120	Silent	SNP	T	TCGA-KK-A8I8-01A-11D-A364-08		92735120	66403543	3	9692										
CDH23	64072	broad.mit.edu	37	chr10	73437354	73437354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	cgggtcaggatcaatgtgttGgatgtcaacgacaacgtgcc	13	9	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.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		Somatic				CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	p.L557F	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	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	9	7	---	---	---	---	T	73437354	G	T	73437354	3	4	246	1	0	0	0	0	1	0	0	0	3108	1339	47	1	1941	1	CDH23	10	73437354	Missense_Mutation	SNP	G	TCGA-KK-A8I8-01A-11D-A364-08		73437354	62097393	4	9693										
TIGD3	220359	broad.mit.edu	37	chr11	65123573	65123573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	gccaaggcctgggacgtgacGgggcccatgctgctccacaa	14	14	0	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.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			Somatic					p.T98T	NM_145719.2	NP_663771.1	WXS	Illumina GAIIx	Phase_I	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	25	39	---	---	---	---	A	65123573	G	A	65123573	2	1	246	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		65123573	69882943	5	9694										
ANKRD52	283373	broad.mit.edu	37	chr12	56646642	56646642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	caaacccagctgaaagcacaTgctcattgctgagtgaagac	9	11	1	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.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		Somatic					p.H408R	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	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	13	19	---	---	---	---	C	56646642	T	C	56646642	3	2	246	1	0	0	0	0	1	0	0	0	678	1464	51	2	2075	2	ANKRD52	12	56646642	Missense_Mutation	SNP	T	TCGA-KK-A8I8-01A-11D-A364-08		56646642	77205253	6	9695										
NID2	22795	broad.mit.edu	37	chr14	52508861	52508861	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	tctcagagccaggtttttctAaagcaaagagccagccaaac	8	11	2	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.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*		Somatic				NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	p.L596*	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	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	37	69	---	---	---	---	T	52508861	A	T	52508861	4	4	246	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	7	9696										
HSP90AA1	3320	broad.mit.edu	37	chr14	102548543	102548543	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	ggagcgcagtttcataaagcAagatgaccagatccttcaca	9	10	2	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*		Somatic				HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.L665*	p.L787*	NM_001017963.2	NP_001017963.2	WXS	Illumina GAIIx	Phase_I	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	42	115	---	---	---	---	T	102548543	A	T	102548543	4	4	246	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	8	9697										
MATN4	8785	broad.mit.edu	37	chr20	43929859	43929859	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.111111111111111	1	1	3.35185185185185	NA	3.35185185185185	1	1	0	gttcccaaagctgcagtagtCaatggctggcaggagggaag	15	8	1	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.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_ENST00000372756.1_Missense_Mutation_p.D258Y|MATN4_ENST00000537548.1_Missense_Mutation_p.D258Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y			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		Somatic	OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.D299Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y	p.D258Y			WXS	Illumina GAIIx	Phase_I	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	4	86	---	---	---	---	A	43929859	C	A	43929859	3	1	246	1	0	0	0	0	1	0	0	0	9336	826	29	3	997	3	MATN4	20	43929859	Missense_Mutation	SNP	C	TCGA-KK-A8I8-01A-11D-A364-08		43929859	19095661	9	9698										
TFAP2E	339488	broad.mit.edu	37	chr1	36054078	36054078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacgtccaagtacaaggtgaCggtgggggaggtgcagcggc	18	8	0	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		Somatic					p.T237M	NM_178548.3	NP_848643.2	WXS	Illumina GAIIx	Phase_I	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	8	79	---	---	---	---	T	36054078	C	T	36054078	3	4	247	1	0	0	0	0	1	0	0	0	15788	536	19	2	724	2	TFAP2E	1	36054078	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		36054078	213196543	1	9699										
ADORA3	140	broad.mit.edu	37	chr1	112042982	112042982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggatgaaaatccaggtgaGgaagctgaagtataccatgt	14	5	0	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.chr1:112042982G>A	ENST00000241356.4	-	2	952	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	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	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		Somatic				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.L183F	NM_000677.3	NP_000668.1	WXS	Illumina GAIIx	Phase_I	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	32	79	---	---	---	---	A	112042982	G	A	112042982	3	1	247	1	0	0	0	0	1	0	0	0	329	1000	35	2	1127	2	ADORA3	1	112042982	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	75988904	112042982	137207639	2	9700										
ITGA10	8515	broad.mit.edu	37	chr1	145532146	145532146	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagtcagtcccatgggggcCgacccgaggctgccaggcta	14	14	2	0			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*		Somatic				ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*	p.R264*	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	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	10	64	---	---	---	---	T	145532146	C	T	145532146	4	4	247	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	9701										
CD1D	912	broad.mit.edu	37	chr1	158151249	158151249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcattctctcccagtcccGcaaaggcttttccccctccg	5	19	2	0			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			Somatic					p.P22P	NM_001766.3	NP_001757.1	WXS	Illumina GAIIx	Phase_I	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	4	270	---	---	---	---	A	158151249	G	A	158151249	2	1	247	1	0	0	0	0	0	0	0	1	2977	1074	38	2		2	CD1D	1	158151249	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	12619103	158151249	91099372	4	9702										
GLUL	2752	broad.mit.edu	37	chr1	182355539	182355539	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtgcctcaaattggtctcTagaaaaaagagtcaataata	8	6	3	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.chr1:182355539T>C	ENST00000331872.6	-	4	869		c.e4-2		GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000311223.5_Splice_Site|GLUL_ENST00000339526.4_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			Somatic				GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000491322.1_5'UTR		NM_002065.5	NP_002056.2	WXS	Illumina GAIIx	Phase_I	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	22	90	---	---	---	---	C	182355539	T	C	182355539	5	2	247	1	0	0	0	0	0	0	1	0	6478	1536	53	2	810	2	GLUL	1	182355539	Splice_Site	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	24204290	182355539	66895082	5	9703										
PLXNA2	5362	broad.mit.edu	37	chr1	208218421	208218421	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctcactcaccatgaccttGtgctgcccggtgaggttggg	14	12	2	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		Somatic					p.H1210Q	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	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	12	30	---	---	---	---	C	208218421	G	C	208218421	3	2	247	1	0	0	0	0	1	0	0	0	12120	1368	48	4	2110	4	PLXNA2	1	208218421	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	25862882	208218421	41032200	6	9704										
GOLGB1	2804	broad.mit.edu	37	chr3	121417402	121417402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagcatcatttaaagatatTtcctcagatgttctactttg	5	9	3	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.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		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D	p.E656D	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	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	22	79	---	---	---	---	G	121417402	T	G	121417402	3	3	247	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	7	9705										
EPHB3	2049	broad.mit.edu	37	chr3	184294719	184294719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccccgggacctgggtggcCgggatgacctcctgtacaat	14	13	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.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		Somatic				EIF2B5_ENST00000444495.1_Intron	p.R368W	NM_004443.3	NP_004434.2	WXS	Illumina GAIIx	Phase_I	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	4	122	---	---	---	---	T	184294719	C	T	184294719	3	4	247	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	8	9706										
SH3BP2	6452	broad.mit.edu	37	chr4	2822436	2822436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggggcgtggccaaggctgGctacctgcacaagaagggcg	18	10	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.chr4:2822436G>C	ENST00000356331.5	+	2	353	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000511747.1_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																													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.(91-93)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		Somatic				SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A	p.G31A	NM_003023.4	NP_003014.3	WXS	Illumina GAIIx	Phase_I	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	353	+			31			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.92G>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	5	47	---	---	---	---	C	2822436	G	C	2822436	3	2	247	1	0	0	0	0	1	0	0	0	14245	1203	42	4	353	4	SH3BP2	4	2822436	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		2822436	188331840	9	9707										
NIPAL1	152519	broad.mit.edu	37	chr4	48027157	48027157	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacaaatgtgtcacagctgcTggcttctcctgtgctctaca	8	13	3	0	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		Somatic				NIPAL1_ENST00000508180.1_3'UTR	p.L40Q	NM_207330.1	NP_997213.1	WXS	Illumina GAIIx	Phase_I	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	8	69	---	---	---	---	A	48027157	T	A	48027157	3	1	247	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	10	9708										
C5orf51	285636	broad.mit.edu	37	chr5	41909968	41909968	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcagaaccagaaattttaGtaaaggaaaataatatgcat	6	4	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.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		Somatic				C5orf51_ENST00000505931.2_3'UTR	p.V110L	NM_175921.4	NP_787117.3	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	C	41909968	G	C	41909968	3	2	247	1	0	0	0	0	1	0	0	0	2308	1029	36	4	338	4	C5orf51	5	41909968	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		41909968	139005292	11	9709										
PCDHA5	56143	broad.mit.edu	37	chr5	140202850	140202850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctactcgctggtggagcggcGggtgggcgagcgcccgctgt	19	12	0	0			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	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_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	56143							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		Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q	p.R497Q	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			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	6	80	---	---	---	---	A	140202850	G	A	140202850	3	1	247	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	12	9710										
PCDHA5	56143	broad.mit.edu	37	chr5	140202971	140202971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttccaggtgagcgcgcgCgacgcgggcgtgccgcctct	16	15	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.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_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	56143							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			Somatic				PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R	p.R537R	NM_018908.2	NP_061731.1	WXS	Illumina GAIIx	Phase_I			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	4	122	---	---	---	---	T	140202971	C	T	140202971	2	4	247	1	0	0	0	0	0	0	0	1	11527	755	27	2		2	PCDHA5	5	140202971	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	121	140202971	40712289	13	9711										
PHF3	23469	broad.mit.edu	37	chr6	64422100	64422100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctacagataagtcagcagAaatagaaacatcagtagtag	8	6	3	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.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		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G	p.E1539G			WXS	Illumina GAIIx	Phase_I	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	14	64	---	---	---	---	G	64422100	A	G	64422100	3	3	247	1	0	0	0	0	1	0	0	0	11836	246	9	2	4674	2	PHF3	6	64422100	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08		64422100	106692967	14	9712										
PGM3	112611	broad.mit.edu	37	chr6	83900533	83900533	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cactaaacccattacctcagGattgtgggacgctgttacca	8	12	1	0			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_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S|RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000513973.1_Missense_Mutation_p.P67S	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		Somatic				PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S	p.P67S	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	WXS	Illumina GAIIx	Phase_I	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	6	42	---	---	---	---	A	83900533	G	A	83900533	1	1	247	0	1	0	0	0	0	0	0	0	11800	1174	41	2		2	PGM3	6	83900533	5'Flank	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	19478433	83900533	87214534	15	9713										
TAGAP	117289	broad.mit.edu	37	chr6	159463110	159463110	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgagagaatgcacgcctacCtggatgggtctggggagtgt	16	7	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.chr6:159463110C>G	ENST00000367066.3	-	5	646	c.315G>C	c.(313-315)caG>caC	p.Q105H	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|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	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.(313-315)caG>caC		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			Somatic				RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	p.Q105H	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	WXS	Illumina GAIIx	Phase_I	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.315G>C	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	4	141	---	---	---	---	G	159463110	C	G	159463110	5	3	247	1	0	0	0	0	0	0	1	0	15534	695	24	4	1922	4	TAGAP	6	159463110	Splice_Site	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	75562577	159463110	11651957	16	9714										
PCLO	27445	broad.mit.edu	37	chr7	82451834	82451834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgaatgcggagttgttgcAcggcagcttcggcagcagct	15	9	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.chr7:82451834A>T	ENST00000333891.9	-	20	15105	c.14768T>A	c.(14767-14769)gTg>gAg	p.V4923E	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E	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																																						ENST00000333891.9																			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		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR	p.V4923E	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			20	15105	-									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	4	148	---	---	---	---	T	82451834	A	T	82451834	3	4	247	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	17	9715										
NOS3	4846	broad.mit.edu	37	chr7	150704213	150704213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgtgttcgggctcggctCccgggcatacccccacttct	11	16	1	0			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		Somatic				NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	p.S654F	NM_000603.4	NP_000594.2	WXS	Illumina GAIIx	Phase_I	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	5	177	---	---	---	---	T	150704213	C	T	150704213	3	4	247	1	0	0	0	0	1	0	0	0	10544	855	30	2	2305	2	NOS3	7	150704213	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	68252379	150704213	8434450	18	9716										
MLL3	58508	broad.mit.edu	37	chr7	151836271	151836271	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggttcctcgctgtctcacCttgcgggccctcctgtgagc	11	16	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.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.(14704-14706)aGg>aCg		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			Somatic				KMT2C_ENST00000262189.6_Splice_Site_p.R4845T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T	p.R4902T			WXS	Illumina GAIIx	Phase_I					58	14923	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.14705G>C	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	11	48	---	---	---	---	G	151836271	C	G	151836271	5	3	247	1	0	0	0	0	0	0	1	0	9622	695	24	4	213	4	MLL3	7	151836271	Splice_Site	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	1132058	151836271	7302392	19	9717										
RRAGA	10670	broad.mit.edu	37	chr9	19050073	19050073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggaggatcagcgtgaccTgatttttaaagagcgagagg	14	6	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.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		Somatic					p.L139Q	NM_006570.4	NP_006561.1	WXS	Illumina GAIIx	Phase_I	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	7	31	---	---	---	---	A	19050073	T	A	19050073	3	1	247	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	20	9718										
IFNA17	3451	broad.mit.edu	37	chr9	21227906	21227906	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtcctctgtgctgaagagAttgaaggtctgctggatcat	13	7	3	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.chr9:21227906A>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		Somatic					p.N89K	NM_021268.2	NP_067091.1	WXS	Illumina GAIIx	Phase_I	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	12	87	---	---	---	---	T	21227906	A	T	21227906	3	4	247	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	21	9719										
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130670786	130670786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcggggcgcctgctcgtgtGccaggtacatctgacactca	12	13	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.chr9:130670786G>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		Somatic				ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR	p.A265V	NM_175039.3	NP_778204.1	WXS	Illumina GAIIx	Phase_I	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	4	62	---	---	---	---	A	130670786	G	A	130670786	3	1	247	1	0	0	0	0	1	0	0	0	15225	1319	46	2	118	2	ST6GALNAC4	9	130670786	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	109442880	130670786	10542645	22	9720										
CUL2	8453	broad.mit.edu	37	chr10	35305223	35305223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcctgaagctctttataaCtgacagtttcactgttgtta	7	8	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.chr10:35305223C>G	ENST00000374748.1	-	19	2097	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T			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		Somatic				CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T	p.S595T			WXS	Illumina GAIIx	Phase_I	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	22	48	---	---	---	---	G	35305223	C	G	35305223	3	3	247	1	0	0	0	0	1	0	0	0	4055	565	20	4	469	4	CUL2	10	35305223	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		35305223	100229524	23	9721										
PKD2L1	9033	broad.mit.edu	37	chr10	102050257	102050257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagatcggcctagtttctcaAtctcagtgttgagggccacc	10	11	2	2	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_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	G	102050257	A	G	102050257	3	3	247	1	0	0	0	0	1	0	0	0	11967	101	4	2	406	2	PKD2L1	10	102050257	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	66745034	102050257	33484490	24	9722										
PPFIBP2	8495	broad.mit.edu	37	chr11	7662824	7662824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accagatggtaaacggaatcCcaaaggcattaagaagttct	9	8	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.chr11:7662824C>G	ENST00000299492.4	+	16	1878	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR	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		Somatic				PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R	p.P497R	NM_003621.3	NP_003612	WXS	Illumina GAIIx	Phase_I	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	10	91	---	---	---	---	G	7662824	C	G	7662824	3	3	247	1	0	0	0	0	1	0	0	0	12314	623	22	4	1548	4	PPFIBP2	11	7662824	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		7662824	127343692	25	9723										
INTS5	80789	broad.mit.edu	37	chr11	62414787	62414787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgcatattacccagggccGgaggcaggaggcttccctca	12	13	1	0	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_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_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		Somatic					p.P922L	NM_030628.1	NP_085131.1	WXS	Illumina GAIIx	Phase_I	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	5	138	---	---	---	---	A	62414787	G	A	62414787	3	1	247	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	26	9724										
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260209	71260209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgtgctaccagtgcaagaTctgaggctctagtgggaaac	13	8	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.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		Somatic					p.I169S	NM_005553.3	NP_005544.4	WXS	Illumina GAIIx	Phase_I	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	35	88	---	---	---	---	G	71260209	T	G	71260209	3	3	247	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	27	9725										
MTMR2	8898	broad.mit.edu	37	chr11	95595463	95595463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgcttttgaaatataacctAtaattcgtgacagtcagagt	7	6	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.chr11:95595463A>G	ENST00000346299.5	-	4	670	c.330T>C	c.(328-330)taT>taC	p.Y110Y	MTMR2_ENST00000352297.7_Silent_p.Y38Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000484818.1_5'UTR|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			Somatic				MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000352297.7_Silent_p.Y38Y	p.Y38Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	WXS	Illumina GAIIx	Phase_I	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	8	35	---	---	---	---	G	95595463	A	G	95595463	2	3	247	1	0	0	0	0	0	0	0	1	9944	456	16	2		2	MTMR2	11	95595463	Silent	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	24335254	95595463	39411053	28	9726										
KDELC2	143888	broad.mit.edu	37	chr11	108357013	108357013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacctctctcatccccaaaCcttttggggacttcttttag	6	14	3	0			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_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Missense_Mutation_p.R129S|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		Somatic				KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S	p.R129S			WXS	Illumina GAIIx	Phase_I	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	6	95	---	---	---	---	A	108357013	C	A	108357013	3	1	247	1	0	0	0	0	1	0	0	0	8118	506	18	3	992	3	KDELC2	11	108357013	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	12761550	108357013	26649503	29	9727										
SP1	6667	broad.mit.edu	37	chr12	53776771	53776771	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttactaccagtggatcatCagggaccaactctcaaggcc	8	13	3	0			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	6667				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*		Somatic				SP1_ENST00000327443.4_Nonsense_Mutation_p.S347*	p.S340*	NM_003109.1	NP_003100.1	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	A	53776771	C	A	53776771	4	1	247	1	0	0	0	0	0	1	0	0	14959	838	29	3	1050	3	SP1	12	53776771	Nonsense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		53776771	80075124	30	9728										
TPH2	121278	broad.mit.edu	37	chr12	72372850	72372850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccggcatggctcagatccCctctacaccccagaaccgtg	8	17	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.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			Somatic					p.P308P	NM_173353.3	NP_775489.2	WXS	Illumina GAIIx	Phase_I	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	10	123	---	---	---	---	T	72372850	C	T	72372850	2	4	247	1	0	0	0	0	0	0	0	1	16399	610	22	2		2	TPH2	12	72372850	Silent	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08	18596079	72372850	61479045	31	9729										
IFT81	28981	broad.mit.edu	37	chr12	110618302	110618302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcagataatagctgaacttAaagctgaattcggtcttttg	8	6	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.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		Somatic				IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	p.K422E	NM_014055.3	NP_054774.2	WXS	Illumina GAIIx	Phase_I	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	8	26	---	---	---	---	G	110618302	A	G	110618302	3	3	247	1	0	0	0	0	1	0	0	0	7565	363	13	2	1418	2	IFT81	12	110618302	Missense_Mutation	SNP	A	TCGA-KK-A8I9-01A-11D-A364-08	38245452	110618302	23233593	32	9730										
ACADS	35	broad.mit.edu	37	chr12	121164962	121164962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcccattgcagcccaggtGgataaggaacatctcttccc	8	13	1	0			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			Somatic				ACADS_ENST00000411593.2_Silent_p.V60V	p.V60V	NM_000017.2	NP_000008.1	WXS	Illumina GAIIx	Phase_I	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	20	121	---	---	---	---	A	121164962	G	A	121164962	2	1	247	1	0	0	0	0	0	0	0	1	114	1335	47	2		2	ACADS	12	121164962	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	10546660	121164962	12686933	33	9731										
KIAA1370	56204	broad.mit.edu	37	chr15	52902265	52902265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacttgggccactttttgcAtgtaacacactttcaggtgc	10	10	1	0			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		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	p.H282Q	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	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	10	36	---	---	---	---	C	52902265	A	C	52902265	3	2	247	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	34	9732										
ST8SIA2	8128	broad.mit.edu	37	chr15	92977487	92977487	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccttccagagctgaagttGtaataaacggctcctcatca	7	12	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.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		Somatic				ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	p.V58L	NM_006011.3	NP_006002.1	WXS	Illumina GAIIx	Phase_I	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	24	88	---	---	---	---	T	92977487	G	T	92977487	3	4	247	1	0	0	0	0	1	0	0	0	15231	1377	48	3	182	3	ST8SIA2	15	92977487	Missense_Mutation	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08	40075222	92977487	9553905	35	9733										
SRCAP	10847	broad.mit.edu	37	chr16	30750172	30750173	+	Silent	DNP	AA	AA	GC													0	0	1	0	0	0	1	1	0	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.chr16:30750172_30750173AA>GC	ENST00000262518.4	+	34	9196_9197	c.8811_8812AA>GC	c.(8809-8814)agAAgg>agGCgg	p.2937_2938RR>RR	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Silent_p.2875_2876RR>RR|SRCAP_ENST00000344771.4_Silent_p.2779_2780RR>RR	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)			TGGAGAAAAGAAGGCGAGGACG	0.589																																						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|c.(8812-8814)Agg>Cgg		Snf2-related CREBBP activator protein																																				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|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	Exception_encountered	16.37:g.30750172_30750173delinsGC			Somatic				SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R|SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	p.R2937R|p.R2938R	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9196|9197	+			2937|2938			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.8811A>G|c.8812A>C	CCDS10689.2																																																																																				0.589	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	46|45	9	45	---	---	---	---	GC	30750173	AA	GC	30750172	2	3	247	1	0	0	0	0	0	0	0	1	15134	243	9	2		2	SRCAP	16	30750172	Silent	DNP	AA	TCGA-KK-A8I9-01A-11D-A364-08		30750172	59604581	36	9734										
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	7	11	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.chr17:47696431C>A	ENST00000393328.2	-	6	757	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000393331.3_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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L	p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	35	101	---	---	---	---	A	47696431	C	A	47696431	3	1	247	1	0	0	0	0	1	0	0	0	15083	595	21	1	756	1	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-KK-A8I9-01A-11D-A364-08		47696431	33498779	37	9735										
SFRS1	6426	broad.mit.edu	37	chr17	56084419	56084419	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcaatgtccttggttcggAtgtctggaggtaagttaccc	11	10	2	0			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_ENST00000581497.1_5'Flank|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000582730.2_Missense_Mutation_p.I27N|SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N	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		Somatic				SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N	p.I27N	NM_001078166.1	NP_001071634.1	WXS	Illumina GAIIx	Phase_I	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	5	54	---	---	---	---	T	56084419	A	T	56084419	3	4	247	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	38	9736										
C18orf8	29919	broad.mit.edu	37	chr18	21083629	21083629	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtgcgagcggccggtgcAgttcgagaaggcgaaccctg	17	11	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.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		Somatic				C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	p.Q16P	NM_013326.3	NP_037458.3	WXS	Illumina GAIIx	Phase_I	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	4	46	---	---	---	---	C	21083629	A	C	21083629	3	2	247	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	39	9737										
ZNF606	80095	broad.mit.edu	37	chr19	58499976	58499976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccttacccacagagagcagGtgaccataggtctccagcat	10	13	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.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			Somatic				ZNF606_ENST00000536132.1_Silent_p.H7H	p.H97H	NM_025027.3	NP_079303.2	WXS	Illumina GAIIx	Phase_I	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	36	127	---	---	---	---	A	58499976	G	A	58499976	2	1	247	1	0	0	0	0	0	0	0	1	18029	1252	44	2		2	ZNF606	19	58499976	Silent	SNP	G	TCGA-KK-A8I9-01A-11D-A364-08		58499976	629007	40	9738										
ZFP64	55734	broad.mit.edu	37	chr20	50769705	50769705	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcattccgagcacttctcAggatgctccgactggtgcac	10	14	1	0			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_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000346617.4_Silent_p.P288P	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			Somatic				ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000477786.1_Intron	p.P342P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	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	20	75	---	---	---	---	T	50769705	A	T	50769705	2	4	247	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		50769705	12255815	41	9739										
CTCFL	140690	broad.mit.edu	37	chr20	56099166	56099166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctctctgcacactccgtcTttttcctcctccttcaggcc	4	18	4	0			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_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.3_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000481655.2_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																																						ENST00000608263.1																			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			Somatic				CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K	p.K32K	NM_001269041.1	NP_001255970.1	WXS	Illumina GAIIx	Phase_I	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)							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	4	247	---	---	---	---	C	56099166	T	C	56099166	2	2	247	1	0	0	0	0	0	0	0	1	4001	1606	56	2		2	CTCFL	20	56099166	Silent	SNP	T	TCGA-KK-A8I9-01A-11D-A364-08	5329461	56099166	6926354	42	9740										
FCRL6	343413	broad.mit.edu	37	chr1	159778953	159778953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ccgggagccaaggagggagaCtctgggctttactggtgtga	17	8	1	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_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E	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		Somatic				FCRL6_ENST00000339348.5_Missense_Mutation_p.D174E|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.D174E	p.D181E	NM_001284217.1	NP_001271146.1	WXS	Illumina GAIIx	Phase_I	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	22	28	---	---	---	---	A	159778953	C	A	159778953	3	1	248	1	0	0	0	0	1	0	0	0	5799	564	20	3	536	3	FCRL6	1	159778953	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		159778953	89471668	1	9741										
ACP1	52	broad.mit.edu	37	chr2	271876	271876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ttttttaaaggtaacatttgTcgatcacccattgcagaagc	7	8	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.chr2:271876T>G	ENST00000272065.5	+	2	147	c.54T>G	c.(52-54)tgT>tgG	p.C18W	ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000272067.6_Missense_Mutation_p.C18W|ACP1_ENST00000405233.1_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W	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		Somatic				ACP1_ENST00000405233.1_Missense_Mutation_p.C18W|ACP1_ENST00000439645.2_Missense_Mutation_p.C18W|ACP1_ENST00000272065.5_Missense_Mutation_p.C18W|ACP1_ENST00000407983.3_Missense_Mutation_p.C18W|ACP1_ENST00000484464.1_3'UTR	p.C18W	NM_007099.3	NP_009030.1	WXS	Illumina GAIIx	Phase_I	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	34	37	---	---	---	---	G	271876	T	G	271876	3	3	248	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	2	9742										
MPHOSPH10	10199	broad.mit.edu	37	chr2	71361867	71361867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	gaaactgaagatacaggtgtTttaaatgtaaagaaaaattc	8	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.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			Somatic				MPHOSPH10_ENST00000498451.2_Silent_p.V346V	p.V346V	NM_005791.2	NP_005782.1	WXS	Illumina GAIIx	Phase_I	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	6	89	---	---	---	---	C	71361867	T	C	71361867	2	2	248	1	0	0	0	0	0	0	0	1	9725	1828	64	2		2	MPHOSPH10	2	71361867	Silent	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08	71089991	71361867	171837506	3	9743										
TTN	7273	broad.mit.edu	37	chr2	179432010	179432010	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ggaggtcctggtctatctaaTacttttacatttactgggaa	9	7	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.chr2:179432010T>G	ENST00000591111.1	-	276	74150	c.73926A>C	c.(73924-73926)gtA>gtC	p.V24642V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V17343V|TTN_ENST00000460472.2_Silent_p.V17218V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.V26283V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_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			Somatic				TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.V24642V|TTN_ENST00000342175.6_Silent_p.V17410V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V23715V|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.V17343V|TTN_ENST00000460472.2_Silent_p.V17218V|TTN-AS1_ENST00000585451.1_RNA	p.V26283V	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	4	102	---	---	---	---	G	179432010	T	G	179432010	2	3	248	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	108070143	179432010	63767363	4	9744										
TTC21A	199223	broad.mit.edu	37	chr3	39174617	39174617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	atgattccctcccagaagcaActggcagcctctatctgcat	7	14	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.chr3:39174617A>G	ENST00000431162.2	+	20	2792	c.2658A>G	c.(2656-2658)caA>caG	p.Q886Q	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Silent_p.Q887Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q			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			Somatic				TTC21A_ENST00000431162.2_Silent_p.Q886Q|TTC21A_ENST00000440121.1_Silent_p.Q838Q|TTC21A_ENST00000493856.1_3'UTR	p.Q887Q	NM_145755.2	NP_665698.2	WXS	Illumina GAIIx	Phase_I	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	12	27	---	---	---	---	G	39174617	A	G	39174617	2	3	248	1	0	0	0	0	0	0	0	1	16684	40	2	2		2	TTC21A	3	39174617	Silent	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		39174617	158847813	5	9745										
CACNA1D	776	broad.mit.edu	37	chr3	53809970	53809970	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	gcctgtctcccagggaagctCtgtgaccctgagtcagatta	11	12	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.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																																						ENST00000288139.4																			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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	+						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	50	76	---	---	---	---	T	53809970	C	T	53809970	2	4	248	1	0	0	0	0	0	0	0	1	2541	900	32	2		2	CACNA1D	3	53809970	Silent	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	14635353	53809970	144212460	6	9746										
ZIC1	7545	broad.mit.edu	37	chr3	147128235	147128235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ggttttggcgacgcggcggcGgcagccagcgcacagcacag	17	13	0	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.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			Somatic					p.A112A	NM_003412.3	NP_003403.2	WXS	Illumina GAIIx	Phase_I	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	10	14	---	---	---	---	A	147128235	G	A	147128235	2	1	248	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	93318265	147128235	50894195	7	9747										
EIF4G1	1981	broad.mit.edu	37	chr3	184046495	184046496	+	Frame_Shift_Ins	INS	-	-	T													0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	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_ENST00000342981.4_Frame_Shift_Ins_p.V1345fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.V1257fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.V1258fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.V1180fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.V1304fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.V1305fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.V1148fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.V1181fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.V1149fs|SNORD66_ENST00000390856.1_RNA	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)gtafs		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		Somatic				EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.V1258fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.V1304fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.V1180fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.V1149fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.V1351fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.V1344fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.V1181fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.V1148fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.V1257fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.V1305fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.V1351fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.V1351fs	p.V1345fs	NM_182917.4	NP_886553	WXS	Illumina GAIIx	Phase_I	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	248	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	8	9748										
NAA15	80155	broad.mit.edu	37	chr4	140265373	140265373	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	aggtggattatgaatatagtGaactactcttatatcagaat	8	4	2	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.chr4:140265373G>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		Somatic				NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.E191K	p.E191K	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	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	19	82	---	---	---	---	A	140265373	G	A	140265373	3	1	248	1	0	0	0	0	1	0	0	0	10118	1291	45	2	593	2	NAA15	4	140265373	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		140265373	50888903	9	9749										
CTNND2	1501	broad.mit.edu	37	chr5	11023079	11023079	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	gcctgtggactaggtctcgcAtggcgtatttgcctggaaaa	13	9	1	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.chr5:11023079A>C	ENST00000304623.8	-	17	2990	c.2801T>G	c.(2800-2802)aTg>aGg	p.M934R	CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R	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		Somatic				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.M501R|CTNND2_ENST00000359640.2_Missense_Mutation_p.M876R|CTNND2_ENST00000511377.1_Missense_Mutation_p.M843R|CTNND2_ENST00000503622.1_Missense_Mutation_p.M597R	p.M934R	NM_001332.2	NP_001323.1	WXS	Illumina GAIIx	Phase_I	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	18	35	---	---	---	---	C	11023079	A	C	11023079	3	2	248	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	10	9750										
PECI	10455	broad.mit.edu	37	chr6	4130794	4130794	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	atagttctgcctggcagcttCctgaacggacgatgacaaac	10	11	1	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.chr6:4130794C>A	ENST00000380118.3	-	4	349	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.E75*|ECI2_ENST00000465828.1_Splice_Site_p.E75*|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75*			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.(223-225)Gaa>Taa		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			Somatic				ECI2_ENST00000380118.3_Splice_Site_p.E105*|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000361538.2_Splice_Site_p.E75*|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000333388.5_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.E75*	p.E75*			WXS	Illumina GAIIx	Phase_I	O75521	ECI2_HUMAN			4	508	-			105			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Splice_Site	SNP	ENST00000380118.3	37	c.223G>T	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	20	35	---	---	---	---	A	4130794	C	A	4130794	5	1	248	1	0	0	0	0	0	0	1	0	11716	869	30	3	899	3	PECI	6	4130794	Splice_Site	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		4130794	166984273	11	9751										
FILIP1	27145	broad.mit.edu	37	chr6	76023240	76023240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	caactctttggtcagattgaGaacctcctgccccatgtttt	7	12	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.chr6:76023240G>A	ENST00000237172.7	-	5	2638	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.L770F|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		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.L770F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.L671F	p.L770F			WXS	Illumina GAIIx	Phase_I	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	35	58	---	---	---	---	A	76023240	G	A	76023240	3	1	248	1	0	0	0	0	1	0	0	0	5894	942	33	2	1341	2	FILIP1	6	76023240	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08	71892446	76023240	95091827	12	9752										
LIMK1	3984	broad.mit.edu	37	chr7	73520433	73520433	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ctgctgattcaggaaaccagCcgcctgctccagctgaccct	9	16	1	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.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		Somatic				LIMK1_ENST00000336180.2_Missense_Mutation_p.S247R|LIMK1_ENST00000538333.3_Missense_Mutation_p.S213R	p.S277R			WXS	Illumina GAIIx	Phase_I	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	41	62	---	---	---	---	G	73520433	C	G	73520433	3	3	248	1	0	0	0	0	1	0	0	0	8801	738	26	4	767	4	LIMK1	7	73520433	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		73520433	85618230	13	9753										
LONRF1	91694	broad.mit.edu	37	chr8	12600768	12600768	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	atatgattccgctctgtaaaTttttacaatcaagtcactgg	6	8	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.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		Somatic				LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	p.I249L	NM_152271.3	NP_689484.3	WXS	Illumina GAIIx	Phase_I	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	17	5	---	---	---	---	G	12600768	T	G	12600768	3	3	248	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	14	9754										
NSMAF	8439	broad.mit.edu	37	chr8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	tagccaaatattagatcaatCcactcgtgaaggtgttcaga	8	8	2	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.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		Somatic				NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	p.W509C	NM_003580.3	NP_003571.2	WXS	Illumina GAIIx	Phase_I	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	4	204	---	---	---	---	G	59511849	C	G	59511849	3	3	248	1	0	0	0	0	1	0	0	0	10674	856	30	4	1278	4	NSMAF	8	59511849	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08	46911081	59511849	86852173	15	9755										
FRMPD2	143162	broad.mit.edu	37	chr10	49430493	49430493	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ctggtgccttgtcaggctgtGcctggaaaagaagtagcaat	13	8	1	1	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.(1318-1320)Cac>Aac		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			Somatic				FRMPD2_ENST00000407470.4_Splice_Site_p.H409N|FRMPD2_ENST00000305531.3_Splice_Site_p.H416N	p.H440N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	WXS	Illumina GAIIx	Phase_I	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.1318C>A	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	3	52	---	---	---	---	T	49430493	G	T	49430493	5	4	248	1	0	0	0	0	0	0	1	0	6058	1333	46	3	2683	3	FRMPD2	10	49430493	Splice_Site	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		49430493	86104254	16	9756										
MYST4	23522	broad.mit.edu	37	chr10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	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_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|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)agacaafs		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		Somatic				KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina GAIIx	Phase_I	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	248	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	17	9757										
OR5P3	120066	broad.mit.edu	37	chr11	7846597	7846597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	agtttcatcaagaaaatattTttattctaagctctctcttc	3	8	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.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		Somatic				RP11-35J10.5_ENST00000527565.1_lincRNA	p.K308R	NM_153445.1	NP_703146.1	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	C	7846597	T	C	7846597	3	2	248	1	0	0	0	0	1	0	0	0	11179	1841	64	2	15	2	OR5P3	11	7846597	Missense_Mutation	SNP	T	TCGA-KK-A8IA-01A-11D-A364-08		7846597	127159919	18	9758										
SRRM4	84530	broad.mit.edu	37	chr12	119583287	119583287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	tacgactcaggaaatgacacGtcctcgccaccctccacgca	7	17	1	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			Somatic					p.T291T	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	A	119583287	G	A	119583287	2	1	248	1	0	0	0	0	0	0	0	1	15170	1132	40	2		2	SRRM4	12	119583287	Silent	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		119583287	14268608	19	9759										
LTBP2	4053	broad.mit.edu	37	chr14	74995318	74995318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	gggccttgccagttcctcctCctcggctttcctcatggaca	9	16	1	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.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		Somatic				LTBP2_ENST00000556690.1_Missense_Mutation_p.E746K	p.E746K	NM_000428.2	NP_000419.1	WXS	Illumina GAIIx	Phase_I	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	20	15	---	---	---	---	T	74995318	C	T	74995318	3	4	248	1	0	0	0	0	1	0	0	0	9074	864	30	2	3329	2	LTBP2	14	74995318	Missense_Mutation	SNP	C	TCGA-KK-A8IA-01A-11D-A364-08		74995318	32354222	20	9760										
NLRC5	84166	broad.mit.edu	37	chr16	57099144	57099144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	ggtgcaggagccgtgggcggAcagagccagggttctctccc	17	12	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.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		Somatic				NLRC5_ENST00000262510.6_Missense_Mutation_p.D1392G|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1363G|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1363G	p.D1392G			WXS	Illumina GAIIx	Phase_I	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	6	12	---	---	---	---	G	57099144	A	G	57099144	3	3	248	1	0	0	0	0	1	0	0	0	10470	275	10	2	4297	2	NLRC5	16	57099144	Missense_Mutation	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		57099144	33255609	21	9761										
RAC3	5881	broad.mit.edu	37	chr17	79990859	79990859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	gcttctctctggtgagcccgGcctccttcgagaatgttcgt	11	13	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.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		Somatic					p.A88T	NM_005052.2	NP_005043.1	WXS	Illumina GAIIx	Phase_I	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	20	32	---	---	---	---	A	79990859	G	A	79990859	3	1	248	1	0	0	0	0	1	0	0	0	12976	1203	42	2	276	2	RAC3	17	79990859	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		79990859	1204351	22	9762										
ATP9B	374868	broad.mit.edu	37	chr18	76873307	76873307	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	taatatcctgctcacagtttGtaccagcattgaaaataggc	7	9	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.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_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L	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		Somatic				ATP9B_ENST00000458297.2_Missense_Mutation_p.V119L|ATP9B_ENST00000307671.7_Missense_Mutation_p.V171L|ATP9B_ENST00000586722.1_Missense_Mutation_p.V171L|ATP9B_ENST00000591464.1_Intron	p.V171L	NM_198531.3	NP_940933.3	WXS	Illumina GAIIx	Phase_I	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	3	54	---	---	---	---	C	76873307	G	C	76873307	3	2	248	1	0	0	0	0	1	0	0	0	1199	1377	48	4	525	4	ATP9B	18	76873307	Missense_Mutation	SNP	G	TCGA-KK-A8IA-01A-11D-A364-08		76873307	1203941	23	9763										
ZNF831	128611	broad.mit.edu	37	chr20	57767047	57767047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	agcaggcgacggcagcggagAagccctgggatgccaaggcc	17	12	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.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		Somatic					p.K325E	NM_178457.1	NP_848552.1	WXS	Illumina GAIIx	Phase_I	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	13	24	---	---	---	---	G	57767047	A	G	57767047	3	3	248	1	0	0	0	0	1	0	0	0	18182	247	9	2	975	2	ZNF831	20	57767047	Missense_Mutation	SNP	A	TCGA-KK-A8IA-01A-11D-A364-08		57767047	5258473	24	9764										
MAGEA4	4103	broad.mit.edu	37	chrX	151093031	151093031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.12	3	1	1.88903743315508	0	2.59742647058824	0.1	1	0	tcagggtcaatgcaagagttCgcattgcctacccatccctg	9	13	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.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370335.1_Missense_Mutation_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_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																																						ENST00000360243.2																			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		Somatic				MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C	p.R299C	NM_001011550.1	NP_001011550.1	WXS	Illumina GAIIx	Phase_I	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	8	85	---	---	---	---	T	151093031	C	T	151093031	3	4	248	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	25	9765										
SDHB	6390	broad.mit.edu	37	chr1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cattgatgttcattgcacaaGagccacagatgcctgaaaga	9	9	1	5	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		Somatic					p.S100F	NM_003000.2	NP_002991.2	WXS	Illumina GAIIx	Phase_I	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	8	100	---	---	---	---	A	17355219	G	A	17355219	3	1	249	1	0	0	0	0	1	0	0	0	13965	942	33	2	563	2	SDHB	1	17355219	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		17355219	231895402	1	9766										
UBR4	23352	broad.mit.edu	37	chr1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	accattactctggctcagggCattcgtgacatcagccaagt	9	12	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.chr1:19489045C>T	ENST00000375254.3	-	35	4852	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375267.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_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		Somatic				UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T	p.A1609T			WXS	Illumina GAIIx	Phase_I	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	6	89	---	---	---	---	T	19489045	C	T	19489045	3	4	249	1	0	0	0	0	1	0	0	0	16901	710	25	2	11014	2	UBR4	1	19489045	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	2133826	19489045	229761576	2	9767										
C1orf38	9473	broad.mit.edu	37	chr1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	acatgattatgaagaaatacTtgagcaatttcagaaaacca	6	6	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.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373927.3_3'UTR|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		Somatic				THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR	p.L636R	NM_001105556.1	NP_001099026.1	WXS	Illumina GAIIx	Phase_I					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	13	53	---	---	---	---	G	28212408	T	G	28212408	3	3	249	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	9768										
PRKAA2	5563	broad.mit.edu	37	chr1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gcatgtacctacgttatttaAgaagatccgagggggtgtct	12	7	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.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		Somatic					p.K224R	NM_006252.3	NP_006243.2	WXS	Illumina GAIIx	Phase_I	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	11	275	---	---	---	---	G	57161715	A	G	57161715	3	3	249	1	0	0	0	0	1	0	0	0	12494	72	3	2	693	2	PRKAA2	1	57161715	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	28949307	57161715	192088906	4	9769										
FLG	2312	broad.mit.edu	37	chr1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	atgtctttctcctgcacttgAtcttgcctgttcatgggatg	9	10	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.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_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		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1999P	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	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	97	519	---	---	---	---	G	152281367	A	G	152281367	3	3	249	1	0	0	0	0	1	0	0	0	5922	333	12	2	6194	2	FLG	1	152281367	Missense_Mutation	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	95119652	152281367	96969254	5	9770										
OR10T2	128360	broad.mit.edu	37	chr1	158369196	158369196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cagcagctggagctcccccaGgctggagaaacccaccagga	12	15	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.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			Somatic					p.L21L	NM_001004475.1	NP_001004475.1	WXS	Illumina GAIIx	Phase_I	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	4	27	---	---	---	---	A	158369196	G	A	158369196	2	1	249	1	0	0	0	0	0	0	0	1	10919	991	35	2		2	OR10T2	1	158369196	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	6087829	158369196	90881425	6	9771										
KLHDC9	126823	broad.mit.edu	37	chr1	161069373	161069373	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	aggtctcttcggacagtcctTtctttctccccaaggaggaa	9	12	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.chr1:161069373T>A	ENST00000368011.4	+	3	829				PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.F231Y|KLHDC9_ENST00000490724.2_Intron	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			Somatic				KLHDC9_ENST00000368011.4_Intron|KLHDC9_ENST00000490724.2_Intron	p.F231Y	NM_001007255.2	NP_001007256.1	WXS	Illumina GAIIx	Phase_I	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	19	309	---	---	---	---	A	161069373	T	A	161069373	1	1	249	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	7	9772										
IL18RAP	8807	broad.mit.edu	37	chr2	103063567	103063567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ctgcttggcaccatcgggacCctggtggccgtgctggcggc	16	14	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.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			Somatic				IL18RAP_ENST00000409369.1_Silent_p.T228T	p.T370T	NM_003853.2	NP_003844.1	WXS	Illumina GAIIx	Phase_I	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	5	167	---	---	---	---	T	103063567	C	T	103063567	2	4	249	1	0	0	0	0	0	0	0	1	7648	610	22	2		2	IL18RAP	2	103063567	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		103063567	140135806	8	9773										
TRIP12	9320	broad.mit.edu	37	chr2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-													0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	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)gaafs		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		Somatic				TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	p.E1375fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	WXS	Illumina GAIIx	Phase_I	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	249	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	127593081	230656648	12542725	9	9774										
GALNTL2	117248	broad.mit.edu	37	chr3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tccaaaacactggagcgtatGactctcttatgtcgctgcga	9	11	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.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		Somatic				GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	p.D383N	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					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	17	59	---	---	---	---	A	16252698	G	A	16252698	3	1	249	1	0	0	0	0	1	0	0	0	6222	1290	45	2	1165	2	GALNTL2	3	16252698	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		16252698	181769732	10	9775										
IGSF10	285313	broad.mit.edu	37	chr3	151165279	151165279	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tttatgtttgtcataggactAtcagatattgttctggagtc	9	5	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.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			Somatic					p.D830D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	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	6	119	---	---	---	---	G	151165279	A	G	151165279	2	3	249	1	0	0	0	0	0	0	0	1	7597	446	16	2		2	IGSF10	3	151165279	Silent	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	134912581	151165279	46857151	11	9776										
HCN1	348980	broad.mit.edu	37	chr5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cgggctgcagcatggaggtgAactgcctctgcatgaagccg	15	11	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.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		Somatic					p.F98C	NM_021072.3	NP_066550.2	WXS	Illumina GAIIx	Phase_I	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	9	38	---	---	---	---	C	45695903	A	C	45695903	3	2	249	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	12	9777										
CHD1	1105	broad.mit.edu	37	chr5	98216807	98216807	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tgggaaagcaattcatctccTacagttaaaggacctggttc	9	9	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.chr5:98216807T>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			Somatic					p.V1011V	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	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	14	40	---	---	---	---	G	98216807	T	G	98216807	2	3	249	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	13	9778										
PCDHGA9	56107	broad.mit.edu	37	chr5	140783254	140783254	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gccccggtttttgctcaacgGatttaccgagttaaagtcct	9	11	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.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	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|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_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	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	56107							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			Somatic				PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R245R	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	WXS	Illumina GAIIx	Phase_I			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	12	72	---	---	---	---	T	140783254	G	T	140783254	2	4	249	1	0	0	0	0	0	0	0	1	11561	1161	41	3		3	PCDHGA9	5	140783254	Silent	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08	42566447	140783254	40132006	14	9779										
KCNK17	89822	broad.mit.edu	37	chr6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gttgagcaccacgaggttgaGtgggatccccacaagggcaa	14	10	0	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		Somatic				KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	p.L143F	NM_001135111.1	NP_001128583.1	WXS	Illumina GAIIx	Phase_I	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	15	102	---	---	---	---	A	39272357	G	A	39272357	3	1	249	1	0	0	0	0	1	0	0	0	8064	1029	36	2	715	2	KCNK17	6	39272357	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		39272357	131842710	15	9780										
SYNE1	23345	broad.mit.edu	37	chr6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	catcctctctggtgtgcagcActgagttcaacagggcctgc	11	13	2	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_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E	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)	Somatic				SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E	p.V3552E	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	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	7	92	---	---	---	---	T	152676065	A	T	152676065	3	4	249	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	16	9781										
TYW1	55253	broad.mit.edu	37	chr7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ttttgaagctactccaccagTgtaaaatttccagcttcctg	6	11	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.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		Somatic					p.C504R	NM_018264.2	NP_060734.2	WXS	Illumina GAIIx	Phase_I	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	4	70	---	---	---	---	C	66563653	T	C	66563653	3	2	249	1	0	0	0	0	1	0	0	0	16815	1696	59	2	1556	2	TYW1	7	66563653	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08		66563653	92575010	17	9782										
ASB15	142685	broad.mit.edu	37	chr7	123269122	123269122	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	actgcgctgtattttggcgtTtctaataatgacgttcattg	9	7	2	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.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000451215.1_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			Somatic				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			WXS	Illumina GAIIx	Phase_I	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	46	73	---	---	---	---	C	123269122	T	C	123269122	2	2	249	1	0	0	0	0	0	0	0	1	1019	1828	64	2		2	ASB15	7	123269122	Silent	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	56705469	123269122	35869541	18	9783										
UBXN2B	137886	broad.mit.edu	37	chr8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ttgtgaatgaacttttcaaaGaggcaagggaacatggggct	13	5	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.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*		Somatic				UBXN2B_ENST00000522978.1_3'UTR	p.E91*	NM_001077619.1	NP_001071087.1	WXS	Illumina GAIIx	Phase_I	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	15	39	---	---	---	---	T	59343160	G	T	59343160	4	4	249	1	0	0	0	0	0	1	0	0	16912	943	33	3	281	3	UBXN2B	8	59343160	Nonsense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		59343160	87020862	19	9784										
OSGIN2	734	broad.mit.edu	37	chr8	90933337	90933337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ggctccatgttgacaatcagCtttggaagttggatggaact	12	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.chr8:90933337C>T	ENST00000297438.2	+	5	781	c.426C>T	c.(424-426)agC>agT	p.S142S	OSGIN2_ENST00000520659.1_Silent_p.S186S|OSGIN2_ENST00000451899.2_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			Somatic				OSGIN2_ENST00000520659.1_Silent_p.S186S|OSGIN2_ENST00000297438.2_Silent_p.S142S	p.S186S	NM_001126111.1	NP_001119583.1	WXS	Illumina GAIIx	Phase_I	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	6	156	---	---	---	---	T	90933337	C	T	90933337	2	4	249	1	0	0	0	0	0	0	0	1	11290	796	28	2		2	OSGIN2	8	90933337	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	31590177	90933337	55430685	20	9785										
TBC1D2	55357	broad.mit.edu	37	chr9	100962536	100962536	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gggggtgggggttcctcaccGgctgttggagatggtcttgg	20	7	2	1	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_ENST00000342112.5_Splice_Site_p.R642W|TBC1D2_ENST00000375066.5_Splice_Site_p.R849W|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W	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.(2545-2547)Cgg>Tgg		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			Somatic				TBC1D2_ENST00000375064.1_Splice_Site_p.R860C|TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W	p.R849W	NM_018421.3	NP_060891.3	WXS	Illumina GAIIx	Phase_I	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.2545C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	8	18	---	---	---	---	A	100962536	G	A	100962536	5	1	249	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	21	9786										
ZBTB34	403341	broad.mit.edu	37	chr9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gctgccagctccccatatttCcgggaccattcagcgttaag	9	14	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.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		Somatic				ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	p.F61L	NM_001099270.1	NP_001092740.1	WXS	Illumina GAIIx	Phase_I	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	6	97	---	---	---	---	G	129641861	C	G	129641861	3	3	249	1	0	0	0	0	1	0	0	0	17534	854	30	4	173	4	ZBTB34	9	129641861	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	28679325	129641861	11571570	22	9787										
TCF7L2	6934	broad.mit.edu	37	chr10	114925329	114925329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tctaggagaaaaaaaaagtgCgttcgctacatacaaggtga	10	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.chr10:114925329C>T	ENST00000355995.4	+	15	1965	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000355717.4_Missense_Mutation_p.A469V|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000352065.5_3'UTR			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			Somatic				TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V	p.A469V	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	WXS	Illumina GAIIx	Phase_I	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	5	112	---	---	---	---	T	114925329	C	T	114925329	2	4	249	1	0	0	0	0	0	0	0	1	15695	777	27	2		2	TCF7L2	10	114925329	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		114925329	20609418	23	9788										
ZRANB1	54764	broad.mit.edu	37	chr10	126672053	126672053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tatctgcctttgttgtgggaAcagagtttttgttggaaaag	12	4	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.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			Somatic				ZRANB1_ENST00000471421.1_3'UTR	p.E568E	NM_017580.2	NP_060050.2	WXS	Illumina GAIIx	Phase_I	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	17	86	---	---	---	---	G	126672053	A	G	126672053	2	3	249	1	0	0	0	0	0	0	0	1	18219	40	2	2		2	ZRANB1	10	126672053	Silent	SNP	A	TCGA-KK-A8IB-01A-11D-A364-08	11746724	126672053	8862694	24	9789										
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	aacagcaacacacgggcacaCcgcagccggagccacagccc	10	18	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.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_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		Somatic				KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G209D	NM_001005922.1	NP_001005922.1	WXS	Illumina GAIIx	Phase_I	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	10	72	---	---	---	---	T	1605854	C	T	1605854	3	4	249	1	0	0	0	0	1	0	0	0	8558	507	18	2	214	2	KRTAP5-1	11	1605854	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		1605854	133400662	25	9790										
FOLR3	2352	broad.mit.edu	37	chr11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cactccttcaaggtcagcaaCtatagtcgagggagcggccg	12	12	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.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K			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		Somatic				FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K|FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K	p.N241K			WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	G	71850740	C	G	71850740	3	3	249	1	0	0	0	0	1	0	0	0	5983	564	20	4	615	4	FOLR3	11	71850740	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	70244886	71850740	63155776	26	9791										
TM7SF3	51768	broad.mit.edu	37	chr12	27152541	27152541	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	aagtaccaagtgcatgtactCtgctctggtctaaggatgaa	10	8	3	1	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			Somatic				TM7SF3_ENST00000542667.1_5'UTR	p.Q105Q	NM_016551.2	NP_057635.1	WXS	Illumina GAIIx	Phase_I	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	12	30	---	---	---	---	T	27152541	C	T	27152541	2	4	249	1	0	0	0	0	0	0	0	1	15972	912	32	2		2	TM7SF3	12	27152541	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		27152541	106699354	27	9792										
MORN3	283385	broad.mit.edu	37	chr12	122107369	122107369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cacagggactccgactttttTgggcacttagagactggcat	11	10	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.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			Somatic					p.P7P	NM_173855.4	NP_776254.3	WXS	Illumina GAIIx	Phase_I	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	7	89	---	---	---	---	C	122107369	T	C	122107369	2	2	249	1	0	0	0	0	0	0	0	1	9709	1799	63	2		2	MORN3	12	122107369	Silent	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	94954828	122107369	11744526	28	9793										
ZC3H13	23091	broad.mit.edu	37	chr13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cccattctctctgcctcgtaTctctcctctctctctcgcgc	4	20	5	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.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V			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		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V	p.D1317V			WXS	Illumina GAIIx	Phase_I	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	17	58	---	---	---	---	A	46542010	T	A	46542010	3	1	249	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		46542010	68627868	29	9794										
FOXA1	3169	broad.mit.edu	37	chr14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	agtagcagccgttctcgaacAtgttgccggagtccgggtgc	14	11	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.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		Somatic				FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K	p.M253K	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	4	34	---	---	---	---	T	38061231	A	T	38061231	3	4	249	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	30	9795										
LTBP2	4053	broad.mit.edu	37	chr14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	cccagggggatgaggggtgcTccagaggtaccgcctgttgg	18	10	0	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	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G|CTD-2207P18.1_ENST00000554552.1_lincRNA	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	10	62	---	---	---	---	C	75022226	T	C	75022226	3	2	249	1	0	0	0	0	1	0	0	0	9074	1551	54	2	4596	2	LTBP2	14	75022226	Missense_Mutation	SNP	T	TCGA-KK-A8IB-01A-11D-A364-08	36960995	75022226	32327314	31	9796										
DYNC1H1	1778	broad.mit.edu	37	chr14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tccctttttaatagcgatatCtggtttatgccatactctgg	7	9	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.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		Somatic					p.L2494V	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	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	6	49	---	---	---	---	G	102482692	C	G	102482692	3	3	249	1	0	0	0	0	1	0	0	0	4841	912	32	4	7626	4	DYNC1H1	14	102482692	Missense_Mutation	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08	27460466	102482692	4866848	32	9797										
LMAN1L	79748	broad.mit.edu	37	chr15	75114226	75114226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gggaggggtggccacctctcCatgtcactcaataaggtagg	14	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.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			Somatic				LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	p.S372S	NM_021819.2	NP_068591.2	WXS	Illumina GAIIx	Phase_I	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	8	41	---	---	---	---	T	75114226	C	T	75114226	2	4	249	1	0	0	0	0	0	0	0	1	8837	581	21	2		2	LMAN1L	15	75114226	Silent	SNP	C	TCGA-KK-A8IB-01A-11D-A364-08		75114226	27417166	33	9798										
VPS35	55737	broad.mit.edu	37	chr16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	tgctctgtttcttcactggaTtcaagattcgggaggtcttc	10	9	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.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		Somatic					p.E758D	NM_018206.4	NP_060676.2	WXS	Illumina GAIIx	Phase_I	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	15	69	---	---	---	---	G	46694501	T	G	46694501	3	3	249	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	34	9799										
ZNF521	25925	broad.mit.edu	37	chr18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	aagtttccatagtgtaggctGccccacaaatgtcgcagccg	10	12	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.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000579111.1_5'Flank	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		Somatic				ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	p.A893V	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	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	4	51	---	---	---	---	A	22805204	G	A	22805204	3	1	249	1	0	0	0	0	1	0	0	0	17962	1319	46	2	1277	2	ZNF521	18	22805204	Missense_Mutation	SNP	G	TCGA-KK-A8IB-01A-11D-A364-08		22805204	55272044	35	9800										
PLCB4	5332	broad.mit.edu	37	chr20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ttttttttgtttttaaaggaTgtaattcaagccatcaagga	7	4	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.chr20:9370528T>G	ENST00000378493.1	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000378501.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR			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		Somatic				PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR	p.D387E	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	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	12	72	---	---	---	---	G	9370528	T	G	9370528	3	3	249	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		9370528	53654992	36	9801										
KIAA2022	340533	broad.mit.edu	37	chrX	73963818	73963818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	ctgctctccatatttcatatTttctccagcattaatacact	2	12	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.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																																						ENST00000055682.6																			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		Somatic					p.N192Y	NM_001008537.2	NP_001008537.1	WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	1185	-								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	5	36	---	---	---	---	A	73963818	T	A	73963818	3	1	249	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	37	9802										
GPC4	2239	broad.mit.edu	37	chrX	132437323	132437323	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	0.968713181754189	1.9639175257732	2.61855670103093	1.81284694686757	0.523809523809524	1	0	gtcaacctggacctctgggtTgttgccctggttggctaatc	12	11	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.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		Somatic				GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	p.N447Y	NM_001448.2	NP_001439.2	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	A	132437323	T	A	132437323	3	1	249	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	58473505	132437323	22833237	38	9803										
FCRL1	115350	broad.mit.edu	37	chr1	157773734	157773734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	gtcttctttccacatggcagCgatctggagcttgggggagc	14	10	3	0	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_ENST00000491942.1_Missense_Mutation_p.A74T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_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		Somatic				FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T	p.A74T	NM_001159397.1	NP_001152869.1	WXS	Illumina GAIIx	Phase_I	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	8	71	---	---	---	---	T	157773734	C	T	157773734	3	4	250	1	0	0	0	0	1	0	0	0	5794	768	27	2	1171	2	FCRL1	1	157773734	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		157773734	91476887	1	9804										
OR2M7	391196	broad.mit.edu	37	chr1	248487019	248487019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	ctataaatgagaggattcagCatgggagtgacgatggtgta	14	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.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		Somatic					p.M284I	NM_001004691.1	NP_001004691.1	WXS	Illumina GAIIx	Phase_I	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	7	46	---	---	---	---	T	248487019	C	T	248487019	3	4	250	1	0	0	0	0	1	0	0	0	11014	710	25	2	89	2	OR2M7	1	248487019	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	90713285	248487019	763602	2	9805										
CDS1	1040	broad.mit.edu	37	chr4	85569757	85569757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	gcagttgttggtgcttcaacCtgaacagcagttaaatatat	9	7	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.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		Somatic					p.P435L	NM_001263.3	NP_001254.2	WXS	Illumina GAIIx	Phase_I	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	11	39	---	---	---	---	T	85569757	C	T	85569757	3	4	250	1	0	0	0	0	1	0	0	0	3177	681	24	2	1354	2	CDS1	4	85569757	Missense_Mutation	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		85569757	105584519	3	9806										
PHIP	55023	broad.mit.edu	37	chr6	79672824	79672824	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	ctttacttacctagtgtcatCaactggtttattcctgccac	5	12	2	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.chr6:79672824C>T	ENST00000275034.4	-	30	3692	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	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			Somatic				PHIP_ENST00000479165.1_5'UTR	p.L1175L	NM_017934.5	NP_060404	WXS	Illumina GAIIx	Phase_I	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	7	172	---	---	---	---	T	79672824	C	T	79672824	2	4	250	1	0	0	0	0	0	0	0	1	11842	825	29	2		2	PHIP	6	79672824	Silent	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08		79672824	91442243	4	9807										
TMEM184A	202915	broad.mit.edu	37	chr7	1594921	1594922	+	Frame_Shift_Del	DEL	AG	AG	-													0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	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)ctgfs		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		Somatic					p.L67fs	NM_001097620.1	NP_001091089.1	WXS	Illumina GAIIx	Phase_I	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	250	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	5	9808										
CSPP1	79848	broad.mit.edu	37	chr8	68084687	68084687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	cccatggatatatttgatatGgctagacatcggttgcaagc	10	8	0	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.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		Somatic				CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I	p.M950I	NM_024790.6	NP_079066.5	WXS	Illumina GAIIx	Phase_I	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	12	65	---	---	---	---	A	68084687	G	A	68084687	3	1	250	1	0	0	0	0	1	0	0	0	3962	1348	47	2	3053	2	CSPP1	8	68084687	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		68084687	78279335	6	9809										
RPL7	6129	broad.mit.edu	37	chr8	74205006	74205006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	ttttcttaagggtttctggcAcagcaggaacctccttcttc	8	11	3	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.chr8:74205006A>C	ENST00000352983.2	-	2	326	c.41T>G	c.(40-42)gTg>gGg	p.V14G	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396465.1_5'UTR|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396467.1_5'UTR			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		Somatic				RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396466.1_5'UTR	p.V14G			WXS	Illumina GAIIx	Phase_I	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	7	41	---	---	---	---	C	74205006	A	C	74205006	3	2	250	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	7	9810										
ZFPM2	23414	broad.mit.edu	37	chr8	106814523	106814523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	aaccatgcgcacacgcaagcGcagaaagatgtatgagatgt	11	9	0	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.chr8:106814523G>A	ENST00000407775.2	+	8	2463	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000509144.2_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		Somatic				RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.R738H	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	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	5	20	---	---	---	---	A	106814523	G	A	106814523	3	1	250	1	0	0	0	0	1	0	0	0	17655	1087	38	2	2243	2	ZFPM2	8	106814523	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08	32609517	106814523	39549499	8	9811										
BTBD16	118663	broad.mit.edu	37	chr10	124050622	124050622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	cacggccctgaagaacctctAcatgagtgaggtggagatta	12	9	1	5			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		Somatic				BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C	p.Y169C			WXS	Illumina GAIIx	Phase_I	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	25	85	---	---	---	---	G	124050622	A	G	124050622	3	3	250	1	0	0	0	0	1	0	0	0	1541	391	14	2	525	2	BTBD16	10	124050622	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08		124050622	11484125	9	9812										
PTPRE	5791	broad.mit.edu	37	chr10	129854464	129854464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	agagaaaaaaacagatatccCaacatccttcccagtaagat	5	10	0	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_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000430713.2_Intron	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			Somatic				PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000430713.2_Intron	p.P166P	NM_006504.4	NP_006495.1	WXS	Illumina GAIIx	Phase_I	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	21	121	---	---	---	---	T	129854464	C	T	129854464	2	4	250	1	0	0	0	0	0	0	0	1	12800	581	21	2		2	PTPRE	10	129854464	Silent	SNP	C	TCGA-KK-A8IC-01A-11D-A364-08	5803842	129854464	5680283	10	9813										
OR4C11	219429	broad.mit.edu	37	chr11	55371196	55371196	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	tttctcagtgaatgcaagatGacaatatatgaaattatcaa	6	5	2	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			Somatic					p.V218V	NM_001004700.2	NP_001004700.2	WXS	Illumina GAIIx	Phase_I	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	25	77	---	---	---	---	A	55371196	G	A	55371196	2	1	250	1	0	0	0	0	0	0	0	1	11045	1277	45	2		2	OR4C11	11	55371196	Silent	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		55371196	79635320	11	9814										
STRN3	29966	broad.mit.edu	37	chr14	31416396	31416396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	atttggttctgaattagataGtccaagtaatgaccttaccc	7	8	1	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.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		Somatic				STRN3_ENST00000357479.5_Missense_Mutation_p.L206I	p.L206I	NM_014574.3	NP_055389.3	WXS	Illumina GAIIx	Phase_I	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	4	134	---	---	---	---	T	31416396	G	T	31416396	3	4	250	1	0	0	0	0	1	0	0	0	15329	1020	36	3	1833	3	STRN3	14	31416396	Missense_Mutation	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		31416396	75933144	12	9815										
ZNF521	25925	broad.mit.edu	37	chr18	22806306	22806306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	aatatgctcttccagggaagAgtcagtgagaaaccccatat	9	9	2	2	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_ENST00000584787.1_Missense_Mutation_p.S306P|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000579111.1_5'Flank	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		Somatic				ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P	p.S526P	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	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	14	45	---	---	---	---	G	22806306	A	G	22806306	3	3	250	1	0	0	0	0	1	0	0	0	17962	304	11	2	2379	2	ZNF521	18	22806306	Missense_Mutation	SNP	A	TCGA-KK-A8IC-01A-11D-A364-08		22806306	55270942	13	9816										
MUC16	94025	broad.mit.edu	37	chr19	9045763	9045763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	ctcactccttctccatgactGgttttaggtggtgttggcat	10	10	2	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.chr19:9045763G>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			Somatic					p.T11956T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	13	54	---	---	---	---	A	9045763	G	A	9045763	2	1	250	1	0	0	0	0	0	0	0	1	9973	1335	47	2		2	MUC16	19	9045763	Silent	SNP	G	TCGA-KK-A8IC-01A-11D-A364-08		9045763	50083220	14	9817										
TRIM28	10155	broad.mit.edu	37	chr19	59060418	59060418	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	2	1	1.21985815602837	NA	1.21985815602837	0.333333333333333	1	0	gtgccacgagtgagccttgaAcgcctggacctggacctcac	12	14	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.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		Somatic				TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	p.E491D	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	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	4	15	---	---	---	---	T	59060418	A	T	59060418	3	4	250	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	15	9818										
CAMTA1	23261	broad.mit.edu	37	chr1	7724777	7724777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	actacctgcagccggagaccAacggggtaatccgaagcgcc	12	14	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.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		Somatic				CAMTA1_ENST00000439411.2_Missense_Mutation_p.N724Y	p.N724Y	NM_015215.2	NP_056030.1	WXS	Illumina GAIIx	Phase_I	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	17	61	---	---	---	---	T	7724777	A	T	7724777	3	4	251	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	9819										
KIF1B	23095	broad.mit.edu	37	chr1	10364565	10364566	+	Intron	INS	-	-	A													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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_ENST00000377093.4_Frame_Shift_Ins_p.Q1108fs|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs			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)cagfs		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			Somatic				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Frame_Shift_Ins_p.Q1108fs|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	p.Q1108fs	NM_183416.3	NP_904325.2	WXS	Illumina GAIIx	Phase_I	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	251	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	9820										
ECE1	1889	broad.mit.edu	37	chr1	21548284	21548284	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ctggttattggtgaggcccaGggtggggagcgagtgctcag	19	7	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.chr1:21548284G>C	ENST00000374893.6	-	18	2166	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	ECE1_ENST00000415912.2_Missense_Mutation_p.L682V|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V	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		Somatic				ECE1_ENST00000374893.6_Missense_Mutation_p.L698V|ECE1_ENST00000357071.4_Missense_Mutation_p.L686V|ECE1_ENST00000264205.6_Missense_Mutation_p.L695V|ECE1_ENST00000436918.2_Intron	p.L682V	NM_001113348.1	NP_001106819.1	WXS	Illumina GAIIx	Phase_I	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	8	215	---	---	---	---	C	21548284	G	C	21548284	3	2	251	1	0	0	0	0	1	0	0	0	4889	991	35	4	228	4	ECE1	1	21548284	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11183719	21548284	227702337	3	9821										
GPATCH3	63906	broad.mit.edu	37	chr1	27226496	27226496	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ctcttacctgatgcctccgtAggtagccgaagtctgcggat	11	12	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.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			Somatic					p.P146P	NM_022078.2	NP_071361.2	WXS	Illumina GAIIx	Phase_I	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	13	23	---	---	---	---	T	27226496	A	T	27226496	2	4	251	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	5678212	27226496	222024125	4	9822										
CCDC28B	79140	broad.mit.edu	37	chr1	32669948	32669948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	aggagcagaagaagacaatgGctgaccgtaacctggaccag	13	9	0	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.chr1:32669948G>A	ENST00000373602.5	+	4	840	c.493G>A	c.(493-495)Gct>Act	p.A165T	CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.A165T|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	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		Somatic				CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Missense_Mutation_p.A165T	p.A165T			WXS	Illumina GAIIx	Phase_I	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	10	46	---	---	---	---	A	32669948	G	A	32669948	3	1	251	1	0	0	0	0	1	0	0	0	2803	1203	42	2	503	2	CCDC28B	1	32669948	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	5443452	32669948	216580673	5	9823										
FMN2	56776	broad.mit.edu	37	chr1	240256589	240256591	+	In_Frame_Del	DEL	GCC	GCC	-													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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)gccdel		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		Somatic					p.A395del	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	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	251	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	207586641	240256589	8994032	6	9824										
CPS1	1373	broad.mit.edu	37	chr2	211504743	211504743	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	catgatgtcaattttgatgaCcatggaatgatggtgctagg	12	5	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.chr2:211504743C>G	ENST00000233072.5	+	24	3115	c.2919C>G	c.(2917-2919)gaC>gaG	p.D973E	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E	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		Somatic				CPS1_ENST00000451903.2_Missense_Mutation_p.D522E|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.D979E	p.D973E	NM_001875.4	NP_001866.2	WXS	Illumina GAIIx	Phase_I	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	37	62	---	---	---	---	G	211504743	C	G	211504743	3	3	251	1	0	0	0	0	1	0	0	0	3823	506	18	4	3035	4	CPS1	2	211504743	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		211504743	31694630	7	9825										
PAX3	5077	broad.mit.edu	37	chr2	223085952	223085952	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cctcggtaccttgtggaataGatgtgggctggtaagaggtc	15	7	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.chr2:223085952G>T	ENST00000350526.4	-	6	1083	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y|PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_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		Somatic				PAX3_ENST00000336840.6_Missense_Mutation_p.S316Y|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Missense_Mutation_p.S316Y|PAX3_ENST00000344493.4_Missense_Mutation_p.S316Y|PAX3_ENST00000409551.3_Missense_Mutation_p.S315Y|PAX3_ENST00000392069.2_Missense_Mutation_p.S316Y	p.S316Y	NM_181457.3	NP_852122.1	WXS	Illumina GAIIx	Phase_I	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	74	179	---	---	---	---	T	223085952	G	T	223085952	3	4	251	1	0	0	0	0	1	0	0	0	11480	942	33	3	618	3	PAX3	2	223085952	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11581209	223085952	20113421	8	9826										
IRAK2	3656	broad.mit.edu	37	chr3	10264445	10264445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cctgctccggacgtcagccgCgtatctgccagaggatttca	11	14	3	1	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		Somatic					p.A380V	NM_001570.3	NP_001561.3	WXS	Illumina GAIIx	Phase_I	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	6	88	---	---	---	---	T	10264445	C	T	10264445	3	4	251	1	0	0	0	0	1	0	0	0	7823	768	27	2	1173	2	IRAK2	3	10264445	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		10264445	187757985	9	9827										
SCN11A	11280	broad.mit.edu	37	chr3	38924808	38924808	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	atttggtagcaggttttccgCaggttccaccaaatgaccca	9	11	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.chr3:38924808C>A	ENST00000302328.3	-	18	3333	c.3135G>T	c.(3133-3135)ctG>ctT	p.L1045L	SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000450244.1_Silent_p.L1045L	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			Somatic				SCN11A_ENST00000456224.3_Silent_p.L1007L|SCN11A_ENST00000444237.2_Silent_p.L1045L|SCN11A_ENST00000302328.3_Silent_p.L1045L	p.L1045L			WXS	Illumina GAIIx	Phase_I	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	21	38	---	---	---	---	A	38924808	C	A	38924808	2	1	251	1	0	0	0	0	0	0	0	1	13913	697	25	3		3	SCN11A	3	38924808	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	28660363	38924808	159097622	10	9828										
GABRG1	2565	broad.mit.edu	37	chr4	46067500	46067500	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	gtgtcaggaatccaaattttTccaaccatattactgttaag	6	8	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.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			Somatic					p.G141G	NM_173536.3	NP_775807.2	WXS	Illumina GAIIx	Phase_I	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	21	43	---	---	---	---	C	46067500	T	C	46067500	2	2	251	1	0	0	0	0	0	0	0	1	6171	1770	62	2		2	GABRG1	4	46067500	Silent	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08		46067500	145086776	11	9829										
GABRB1	2560	broad.mit.edu	37	chr4	47405709	47405709	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tggatcaactatgatgcatcTgcagccagagtcgcactagg	11	10	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.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			Somatic				GABRB1_ENST00000538619.1_Silent_p.S202S	p.S272S	NM_000812.3	NP_000803.2	WXS	Illumina GAIIx	Phase_I	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	34	68	---	---	---	---	G	47405709	T	G	47405709	2	3	251	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	12	9830										
CTSO	1519	broad.mit.edu	37	chr4	156863585	156863585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tgagtatctgggaaacttggAaggtttgcttcttaaataaa	10	4	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.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		Somatic					p.S90A	NM_001334.2	NP_001325.1	WXS	Illumina GAIIx	Phase_I	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	33	57	---	---	---	---	C	156863585	A	C	156863585	3	2	251	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	13	9831										
SSBP2	23635	broad.mit.edu	37	chr5	80809507	80809507	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tctcctgggggaatgtttccTagcactggactgggagctgc	14	10	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.chr5:80809507T>G	ENST00000320672.4	-	5	522	c.312A>C	c.(310-312)ctA>ctC	p.L104L	SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000514493.1_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			Somatic				SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Silent_p.L104L	p.L104L	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	WXS	Illumina GAIIx	Phase_I	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	64	67	---	---	---	---	G	80809507	T	G	80809507	2	3	251	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	14	9832										
GPR98	84059	broad.mit.edu	37	chr5	89986832	89986832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ccttgttgttagaggtcctgGctgacgacgttccggagatt	13	9	0	3	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		Somatic					p.A2309T	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	23	109	---	---	---	---	A	89986832	G	A	89986832	3	1	251	1	0	0	0	0	1	0	0	0	6721	1203	42	2	7047	2	GPR98	5	89986832	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	9177325	89986832	90928428	15	9833										
MCTP1	79772	broad.mit.edu	37	chr5	94046594	94046594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	acacacagagggctacaatgGccagccagcttaagaatggg	12	10	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.chr5:94046594G>T	ENST00000515393.1	-	21	2758	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D	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		Somatic				MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.A613D|MCTP1_ENST00000312216.8_Missense_Mutation_p.A699D|MCTP1_ENST00000505078.1_Missense_Mutation_p.A436D|ANKRD32_ENST00000493934.1_Intron	p.A920D	NM_024717.4	NP_078993.4	WXS	Illumina GAIIx	Phase_I	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	12	22	---	---	---	---	T	94046594	G	T	94046594	3	4	251	1	0	0	0	0	1	0	0	0	9400	1203	42	3	252	3	MCTP1	5	94046594	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	4059762	94046594	86868666	16	9834										
TRIM10	10107	broad.mit.edu	37	chr6	30124743	30124743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	catcttcatctccctctgcaGcgggagggcctgctggggaa	13	13	4	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.chr6:30124743G>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			Somatic				TRIM10_ENST00000376704.3_Silent_p.L290L	p.L290L	NM_006778.3	NP_006769.2	WXS	Illumina GAIIx	Phase_I	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	22	19	---	---	---	---	A	30124743	G	A	30124743	2	1	251	1	0	0	0	0	0	0	0	1	16483	962	34	2		2	TRIM10	6	30124743	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		30124743	140990324	17	9835										
RPL10A	4736	broad.mit.edu	37	chr6	35438405	35438405	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	acgtgaagatgacagacgatGagcttgtgtataacattcac	10	7	1	5	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		Somatic				RPL10A_ENST00000467020.1_3'UTR	p.E178K	NM_007104.4	NP_009035.3	WXS	Illumina GAIIx	Phase_I	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	28	39	---	---	---	---	A	35438405	G	A	35438405	3	1	251	1	0	0	0	0	1	0	0	0	13555	1291	45	2	554	2	RPL10A	6	35438405	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	5313662	35438405	135676662	18	9836										
KIF6	221458	broad.mit.edu	37	chr6	39581087	39581087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	atcaggatcctccagtattgTcactttcctaagcaaatggg	8	10	2	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.chr6:39581087T>C	ENST00000287152.7	-	6	611	c.517A>G	c.(517-519)Aca>Gca	p.T173A	KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A|KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A	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		Somatic				KIF6_ENST00000373216.3_Missense_Mutation_p.T173A|KIF6_ENST00000538893.1_Missense_Mutation_p.T173A|KIF6_ENST00000373213.4_Missense_Mutation_p.T12A|KIF6_ENST00000373215.3_Missense_Mutation_p.T173A	p.T173A	NM_145027.4	NP_659464.3	WXS	Illumina GAIIx	Phase_I	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	28	66	---	---	---	---	C	39581087	T	C	39581087	3	2	251	1	0	0	0	0	1	0	0	0	8308	1667	58	2	1999	2	KIF6	6	39581087	Missense_Mutation	SNP	T	TCGA-KK-A8ID-01A-11D-A364-08	4142682	39581087	131533980	19	9837										
ORC3L	23595	broad.mit.edu	37	chr6	88375537	88375537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tctgcaacctcagaagaaatGaatgaaattatccagtatcc	6	9	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.chr6:88375537G>A	ENST00000392844.3	+	19	2064	c.2016G>A	c.(2014-2016)atG>atA	p.M672I	ORC3_ENST00000257789.4_Missense_Mutation_p.M673I|ORC3_ENST00000546266.1_Missense_Mutation_p.M529I	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		Somatic				ORC3_ENST00000546266.1_Missense_Mutation_p.M529I|ORC3_ENST00000257789.4_Missense_Mutation_p.M673I	p.M672I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	A	88375537	G	A	88375537	3	1	251	1	0	0	0	0	1	0	0	0	11263	1290	45	2	2093	2	ORC3L	6	88375537	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	48794450	88375537	82739530	20	9838										
HIPK2	28996	broad.mit.edu	37	chr7	139416759	139416759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ttcagtttcttcacactacaGaaggcacttgattgaagggt	9	8	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.chr7:139416759G>A	ENST00000406875.3	-	2	169	c.75C>T	c.(73-75)ttC>ttT	p.F25F	HIPK2_ENST00000342645.6_Silent_p.F25F|HIPK2_ENST00000428878.2_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			Somatic				HIPK2_ENST00000428878.2_Silent_p.F25F|HIPK2_ENST00000342645.6_Silent_p.F25F	p.F25F	NM_022740.4	NP_073577.3	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	A	139416759	G	A	139416759	2	1	251	1	0	0	0	0	0	0	0	1	7117	933	33	2		2	HIPK2	7	139416759	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		139416759	19721904	21	9839										
SNTG1	54212	broad.mit.edu	37	chr8	51314884	51314884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	aggatgtgatatgtgtgtctGgtgagcctttctattctggt	13	5	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.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		Somatic				SNTG1_ENST00000276467.5_Missense_Mutation_p.G48S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G48S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G48S	p.G48S	NM_018967.2	NP_061840.1	WXS	Illumina GAIIx	Phase_I	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	57	89	---	---	---	---	A	51314884	G	A	51314884	3	1	251	1	0	0	0	0	1	0	0	0	14874	1348	47	2	148	2	SNTG1	8	51314884	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		51314884	95049138	22	9840										
ARFGEF1	10565	broad.mit.edu	37	chr8	68255450	68255453	+	Frame_Shift_Del	DEL	CTTC	CTTC	-													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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)gaagtgfs		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		Somatic					p.EV24fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	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	251	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	23	9841										
FAM122A	116224	broad.mit.edu	37	chr9	71395528	71395528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	caccagcaccgtcacccactCggggaattgggaagcagtgt	12	13	1	0	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_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_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		Somatic				PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	p.R150G	NM_138333.3	NP_612206.3	WXS	Illumina GAIIx	Phase_I	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	39	32	---	---	---	---	G	71395528	C	G	71395528	3	3	251	1	0	0	0	0	1	0	0	0	5419	875	31	4	450	4	FAM122A	9	71395528	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		71395528	69817903	24	9842										
GAD2	2572	broad.mit.edu	37	chr10	26581461	26581462	+	Frame_Shift_Ins	INS	-	-	A													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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.(1453-1458)ataaaafs		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		Somatic				GAD2_ENST00000259271.3_Frame_Shift_Ins_p.IK485fs	p.IK485fs	NM_001134366.1	NP_001127838.1	WXS	Illumina GAIIx	Phase_I	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	251	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	25	9843										
NXF1	10482	broad.mit.edu	37	chr11	62569242	62569242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ctacttgttctggcttcagtTcattcagtatagtgtggggt	11	7	4	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.chr11:62569242T>A	ENST00000532297.1	-	7	1237	c.608A>T	c.(607-609)gAa>gTa	p.E203V	NXF1_ENST00000531709.2_Missense_Mutation_p.E203V|NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V|NXF1_ENST00000294172.2_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		Somatic				NXF1_ENST00000531131.1_Missense_Mutation_p.E66V|NXF1_ENST00000532297.1_Missense_Mutation_p.E203V|NXF1_ENST00000294172.2_Missense_Mutation_p.E203V|NXF1_ENST00000439713.2_Missense_Mutation_p.E203V	p.E203V	NM_001081491.1	NP_001074960.1	WXS	Illumina GAIIx	Phase_I	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	56	86	---	---	---	---	A	62569242	T	A	62569242	3	1	251	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		62569242	72437274	26	9844										
ANKK1	255239	broad.mit.edu	37	chr11	113265773	113265773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	atgttcctggagagtaacaaGgccccaggacctaaatatga	10	9	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.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		Somatic					p.K201N	NM_178510.1	NP_848605.1	WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	T	113265773	G	T	113265773	3	4	251	1	0	0	0	0	1	0	0	0	631	991	35	1	613	1	ANKK1	11	113265773	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	50696531	113265773	21740743	27	9845										
ROBO4	54538	broad.mit.edu	37	chr11	124755084	124755084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tggcctccactcccacagggGcagggagaggttgggggtca	17	11	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.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		Somatic				RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P807T	p.P952T	NM_019055.5	NP_061928.4	WXS	Illumina GAIIx	Phase_I	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	28	55	---	---	---	---	T	124755084	G	T	124755084	3	4	251	1	0	0	0	0	1	0	0	0	13516	1203	42	3	177	3	ROBO4	11	124755084	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	11489311	124755084	10251432	28	9846										
GRIN2B	2904	broad.mit.edu	37	chr12	13724776	13724776	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	aatgcatcatctacacccctCtggttgaactttcccatgta	5	13	3	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.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																																						ENST00000609686.1																			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		Somatic					p.Q711H	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			10	2342	-								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	4	127	---	---	---	---	A	13724776	C	A	13724776	3	1	251	1	0	0	0	0	1	0	0	0	6780	912	32	3	2337	3	GRIN2B	12	13724776	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		13724776	120127119	29	9847										
SRGAP1	57522	broad.mit.edu	37	chr12	64502788	64502788	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cccaggtcggtccttatagtGatgaggtacctctttgcctt	10	11	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.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			Somatic				SRGAP1_ENST00000357825.3_Silent_p.V607V|SRGAP1_ENST00000543397.1_Silent_p.V567V|RP11-196H14.4_ENST00000535806.1_RNA	p.V630V	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	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	49	70	---	---	---	---	A	64502788	G	A	64502788	2	1	251	1	0	0	0	0	0	0	0	1	15144	1277	45	2		2	SRGAP1	12	64502788	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	50778012	64502788	69349107	30	9848										
TMTC2	160335	broad.mit.edu	37	chr12	83424606	83424606	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	agtgaggctgaaaagctcttCttgaaggctattgagctgga	13	6	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.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			Somatic				TMTC2_ENST00000321196.3_Silent_p.F700F	p.F694F			WXS	Illumina GAIIx	Phase_I	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	33	61	---	---	---	---	T	83424606	C	T	83424606	2	4	251	1	0	0	0	0	0	0	0	1	16258	912	32	2		2	TMTC2	12	83424606	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	18921818	83424606	50427289	31	9849										
WASF3	10810	broad.mit.edu	37	chr13	27256890	27256890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	gttccctgcatcagccagctCcacgcacgcagctcctcctc	7	20	1	0	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		Somatic				WASF3_ENST00000335327.5_Missense_Mutation_p.S377F	p.S374F			WXS	Illumina GAIIx	Phase_I	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	23	37	---	---	---	---	T	27256890	C	T	27256890	3	4	251	1	0	0	0	0	1	0	0	0	17251	855	30	2	1156	2	WASF3	13	27256890	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		27256890	87912988	32	9850										
BCL11B	64919	broad.mit.edu	37	chr14	99642454	99642454	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ggaagccgtgcgtgttctgcGcgtgctgcagcaggaaccac	15	12	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.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		Somatic				BCL11B_ENST00000443726.2_Missense_Mutation_p.A46E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A240E	p.A169E	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	WXS	Illumina GAIIx	Phase_I	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	6	25	---	---	---	---	T	99642454	G	T	99642454	3	4	251	1	0	0	0	0	1	0	0	0	1364	1087	38	3	1969	3	BCL11B	14	99642454	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		99642454	7707086	33	9851										
UBE3A	7337	broad.mit.edu	37	chr15	25605555	25605555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tctggattgaagatttcctcCacaaccagctgaaaaaattc	6	10	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.chr15:25605555C>T	ENST00000397954.2	-	5	1736	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000232165.3_Silent_p.V576V|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000438097.1_Silent_p.V556V			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			Somatic				UBE3A_ENST00000428984.2_Silent_p.V556V|UBE3A_ENST00000566215.1_Silent_p.V556V|UBE3A_ENST00000397954.2_Silent_p.V579V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.V556V	p.V576V	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	WXS	Illumina GAIIx	Phase_I	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	34	31	---	---	---	---	T	25605555	C	T	25605555	2	4	251	1	0	0	0	0	0	0	0	1	16876	581	21	2		2	UBE3A	15	25605555	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		25605555	76925837	34	9852										
XYLT1	64131	broad.mit.edu	37	chr16	17292238	17292238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	attgctgtactgcctggagaCctggagcacttgccgatgca	12	11	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.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		Somatic					p.V374I	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	T	17292238	C	T	17292238	3	4	251	1	0	0	0	0	1	0	0	0	17460	507	18	2	1791	2	XYLT1	16	17292238	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		17292238	73062515	35	9853										
FAM57B	83723	broad.mit.edu	37	chr16	30036752	30036752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	gctgagcagcatcagggcccCgttcaccttgtgcagcagtg	13	13	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.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		Somatic				FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.G143R	p.G193R	NM_031478.4	NP_113666.2	WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	T	30036752	C	T	30036752	3	4	251	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	36	9854										
CCDC113	29070	broad.mit.edu	37	chr16	58301442	58301468	+	In_Frame_Del	DEL	AAAAGAGCTACTTGAAAAAATTGAAAA	AAAAGAGCTACTTGAAAAAATTGAAAA	-													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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)agaaaagagctacttgaaaaaattgaaaaa>aga		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		Somatic				CCDC113_ENST00000443128.2_In_Frame_Del_p.KELLEKIEK228del	p.KELLEKIEK282del	NM_014157.3	NP_054876.2	WXS	Illumina GAIIx	Phase_I	Q9H0I3	CC113_HUMAN			7	922_948	+			282					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	251	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	37	9855										
CMIP	80790	broad.mit.edu	37	chr16	81685832	81685832	+	Missense_Mutation	SNP	G	G	C													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000539778.2_Missense_Mutation_p.V74L	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		Somatic				CMIP_ENST00000539778.2_Missense_Mutation_p.V74L|CMIP_ENST00000398040.4_Missense_Mutation_p.V15L|CMIP_ENST00000566513.1_3'UTR	p.V168L	NM_198390.2	NP_938204.2	WXS	Illumina GAIIx	Phase_I	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	12	27	---	---	---	---	C	81685832	G	C	81685832	3	2	251	1	0	0	0	0	1	0	0	0	3578	1029	36	4	538	4	CMIP	16	81685832	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	23384390	81685832	8668921	38	9856	16	2								
CMIP	80790	broad.mit.edu	37	chr16	81685842	81685842	+	Missense_Mutation	SNP	A	A	C													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000539778.2_Missense_Mutation_p.N77T	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		Somatic				CMIP_ENST00000539778.2_Missense_Mutation_p.N77T|CMIP_ENST00000398040.4_Missense_Mutation_p.N18T|CMIP_ENST00000566513.1_3'UTR	p.N171T	NM_198390.2	NP_938204.2	WXS	Illumina GAIIx	Phase_I	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	12	27	---	---	---	---	C	81685842	A	C	81685842	3	2	251	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	39	9857	16	2								
CDK12	51755	broad.mit.edu	37	chr17	37650848	37650848	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tcccaatcacagccattcgtGaaatcaaaatccttcgtcag	5	13	3	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.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)	Somatic				CDK12_ENST00000430627.2_Missense_Mutation_p.E774K	p.E774K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	12	21	---	---	---	---	A	37650848	G	A	37650848	3	1	251	1	0	0	0	0	1	0	0	0	3128	1291	45	2	2338	2	CDK12	17	37650848	Missense_Mutation	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		37650848	43544362	40	9858										
CDK12	51755	broad.mit.edu	37	chr17	37676253	37676254	+	Frame_Shift_Del	DEL	TA	TA	-													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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)ctafs		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)	Somatic				CDK12_ENST00000430627.2_Frame_Shift_Del_p.L1003fs	p.L1003fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	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	251	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	41	9859										
CDC27	996	broad.mit.edu	37	chr17	45234690	45234706	+	Frame_Shift_Del	DEL	CAGTTGCTAAAGTTCTG	CAGTTGCTAAAGTTCTG	-													0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	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_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR	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)cagaactttagcaactgtfs		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		Somatic				CDC27_ENST00000527547.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.QNFSNC174fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.QNFSNC113fs	p.QNFSNC174fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	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	251	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	42	9860										
SPATA20	64847	broad.mit.edu	37	chr17	48626526	48626526	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cgagtcggcttccgcacagtGttgctgagaatacgagaaca	12	10	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.chr17:48626526G>C	ENST00000356488.4	+	5	674	c.591G>C	c.(589-591)gtG>gtC	p.V197V	SPATA20_ENST00000006658.6_Silent_p.V213V|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.V153V	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			Somatic				SPATA20_ENST00000356488.4_Silent_p.V197V|SPATA20_ENST00000393244.3_Silent_p.V153V|SPATA20_ENST00000511937.1_3'UTR	p.V213V	NM_022827.3	NP_073738.2	WXS	Illumina GAIIx	Phase_I	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	3	75	---	---	---	---	C	48626526	G	C	48626526	2	2	251	1	0	0	0	0	0	0	0	1	15005	1364	48	4		4	SPATA20	17	48626526	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08	3391836	48626526	32568684	43	9861										
SETBP1	26040	broad.mit.edu	37	chr18	42532187	42532187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ggcagacctggaggagctaaTcaccaagttccaagtgttca	11	10	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.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		Somatic					p.I961S	NM_015559.2	NP_056374.2	WXS	Illumina GAIIx	Phase_I	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	36	49	---	---	---	---	G	42532187	T	G	42532187	3	3	251	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	44	9862										
PTBP1	5725	broad.mit.edu	37	chr19	804112	804112	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tctagagtgatccacatccgGaagctccccatcgacgtcac	8	15	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.chr19:804112G>T	ENST00000349038.4	+	4	265	c.192G>T	c.(190-192)cgG>cgT	p.R64R	PTBP1_ENST00000394601.4_Silent_p.R64R|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Silent_p.R64R	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			Somatic				PTBP1_ENST00000394601.4_Silent_p.R64R|PTBP1_ENST00000349038.4_Silent_p.R64R|PTBP1_ENST00000350092.4_Intron	p.R64R	NM_002819.4	NP_002810.1	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	T	804112	G	T	804112	2	4	251	1	0	0	0	0	0	0	0	1	12725	1161	41	3		3	PTBP1	19	804112	Silent	SNP	G	TCGA-KK-A8ID-01A-11D-A364-08		804112	58324871	45	9863										
TMPRSS9	360200	broad.mit.edu	37	chr19	2410386	2410386	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	ctggacgggaaggtggactcCtgccaggtgagcccccgatg	16	12	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.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			Somatic					p.S382S	NM_182973.1	NP_892018.1	WXS	Illumina GAIIx	Phase_I	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	24	22	---	---	---	---	A	2410386	C	A	2410386	2	1	251	1	0	0	0	0	0	0	0	1	16250	668	24	1		1	TMPRSS9	19	2410386	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	1606274	2410386	56718597	46	9864										
SLC25A23	79085	broad.mit.edu	37	chr19	6458224	6458224	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cttaccatcctggttccggtCaagactgtgaaacatgagca	9	11	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.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		Somatic				SLC25A23_ENST00000334510.5_Missense_Mutation_p.D90H	p.D90H	NM_024103.2	NP_077008.2	WXS	Illumina GAIIx	Phase_I	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	10	46	---	---	---	---	G	6458224	C	G	6458224	3	3	251	1	0	0	0	0	1	0	0	0	14486	826	29	4	1174	4	SLC25A23	19	6458224	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	4047838	6458224	52670759	47	9865										
DHPS	1725	broad.mit.edu	37	chr19	12790632	12790632	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	cacctattgatcccgttctcCcggagctccttccccctgag	7	18	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.chr19:12790632C>A	ENST00000210060.7	-	3	612	c.477G>T	c.(475-477)cgG>cgT	p.R159R	CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000594424.1_Silent_p.R117R|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			Somatic				DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.R159R|DHPS_ENST00000594424.1_Silent_p.R117R	p.R159R	NM_001930.3	NP_001921.1	WXS	Illumina GAIIx	Phase_I	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	18	56	---	---	---	---	A	12790632	C	A	12790632	2	1	251	1	0	0	0	0	0	0	0	1	4485	610	22	1		1	DHPS	19	12790632	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	6332408	12790632	46338351	48	9866										
SAPS2	9701	broad.mit.edu	37	chr22	50875995	50875995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	tcgtggatcagtttggcttcAatgatgaggagtttgccgac	13	7	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.chr22:50875995A>G	ENST00000216061.5	+	17	2114	c.1744A>G	c.(1744-1746)Aat>Gat	p.N582D	PPP6R2_ENST00000395741.3_Missense_Mutation_p.N556D|PPP6R2_ENST00000359139.3_Missense_Mutation_p.N555D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.N555D			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	17	25	---	---	---	---	G	50875995	A	G	50875995	3	3	251	1	0	0	0	0	1	0	0	0	13837	130	5	2	1713	2	SAPS2	22	50875995	Missense_Mutation	SNP	A	TCGA-KK-A8ID-01A-11D-A364-08		50875995	428571	49	9867										
FAM47A	158724	broad.mit.edu	37	chrX	34148192	34148192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	aatccttaaaggcaattggtCcataaagatcgtcaagaacg	8	8	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.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		Somatic					p.G735V	NM_203408.3	NP_981953.2	WXS	Illumina GAIIx	Phase_I	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	9	69	---	---	---	---	A	34148192	C	A	34148192	3	1	251	1	0	0	0	0	1	0	0	0	5569	855	30	3	175	3	FAM47A	23	34148192	Missense_Mutation	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08		34148192	121122368	50	9868										
CHRDL1	91851	broad.mit.edu	37	chrX	109963154	109963154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.14	7	0.853525798085268	2.31510416666667	1.3890625	2.6044921875	0.0497737556561086	1	0	agaccacaatacacgtttccCtcctgccaaggagaaacaga	7	13	0	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:109963154C>T	ENST00000372045.1	-	6	560	c.429G>A	c.(427-429)gaG>gaA	p.E143E	CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000218054.4_Silent_p.E149E|CHRDL1_ENST00000444321.2_Silent_p.E149E			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			Somatic				CHRDL1_ENST00000372042.1_Silent_p.E150E|CHRDL1_ENST00000394797.4_Silent_p.E149E|CHRDL1_ENST00000372045.1_Silent_p.E143E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Silent_p.E149E|CHRDL1_ENST00000482160.1_Intron	p.E149E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	WXS	Illumina GAIIx	Phase_I	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	22	6	---	---	---	---	T	109963154	C	T	109963154	2	4	251	1	0	0	0	0	0	0	0	1	3373	680	24	2		2	CHRDL1	23	109963154	Silent	SNP	C	TCGA-KK-A8ID-01A-11D-A364-08	75814962	109963154	45307406	51	9869										
TNFRSF18	8784	broad.mit.edu	37	chr1	1139318	1139318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	agcttctggcgtcttcggtcGacggcggcacctccagcagc	13	15	2	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.chr1:1139318G>A	ENST00000379268.2	-	5	751	c.632C>T	c.(631-633)tCg>tTg	p.S211L	TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S204L|TNFRSF18_ENST00000328596.6_Nonsense_Mutation_p.R141*|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S139L	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	6	---	---	---	---	A	1139318	G	A	1139318	3	1	252	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	9870										
TYW3	127253	broad.mit.edu	37	chr1	75229587	75229589	+	In_Frame_Del	DEL	CTG	CTG	-													0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	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_ENST00000421739.2_In_Frame_Del_p.C107del|TYW3_ENST00000467646.1_3'UTR|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)aactgc>aac		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		Somatic				TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000479111.1_In_Frame_Del_p.C71del|TYW3_ENST00000457880.2_In_Frame_Del_p.C158del|TYW3_ENST00000421739.2_In_Frame_Del_p.C107del	p.C191del	NM_138467.2	NP_612476.1	WXS	Illumina GAIIx	Phase_I	Q6IPR3	TYW3_HUMAN			6	659_661	+			191					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	252	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	74090269	75229587	174021034	2	9871										
HMCN1	83872	broad.mit.edu	37	chr1	185959539	185959539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tccacccataattacttgggCcaaagaaacccagctcatct	5	14	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.chr1:185959539C>A	ENST00000271588.4	+	22	3570	c.3341C>A	c.(3340-3342)gCc>gAc	p.A1114D	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D	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		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.A1114D|HMCN1_ENST00000485744.1_3'UTR	p.A1114D	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	31	50	---	---	---	---	A	185959539	C	A	185959539	3	1	252	1	0	0	0	0	1	0	0	0	7220	739	26	3	3427	3	HMCN1	1	185959539	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	110729952	185959539	63291082	3	9872										
ATP13A5	344905	broad.mit.edu	37	chr3	193032862	193032862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tgatgagaagtcccagaaatGttaactctgactccactttt	7	9	1	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.chr3:193032862G>A	ENST00000342358.4	-	18	2174	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I	ATP13A5_ENST00000495496.1_5'Flank|ATP13A5-AS1_ENST00000414634.1_RNA	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		Somatic					p.T686I	NM_198505.2	NP_940907.2	WXS	Illumina GAIIx	Phase_I	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	9	180	---	---	---	---	A	193032862	G	A	193032862	3	1	252	1	0	0	0	0	1	0	0	0	1127	1377	48	2	1649	2	ATP13A5	3	193032862	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		193032862	4989568	4	9873										
FLNC	2318	broad.mit.edu	37	chr7	128481581	128481581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	cgctgagttcaccattgatgCtcgtgcagctggcaagggag	14	10	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		Somatic				FLNC_ENST00000346177.6_Missense_Mutation_p.A694G	p.A694G	NM_001458.4	NP_001449.3	WXS	Illumina GAIIx	Phase_I	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	105	62	---	---	---	---	G	128481581	C	G	128481581	3	3	252	1	0	0	0	0	1	0	0	0	5935	797	28	4	2131	4	FLNC	7	128481581	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08		128481581	30657082	5	9874										
MLL3	58508	broad.mit.edu	37	chr7	151878020	151878020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tgttccaaaagagtcagactGagatcttggagtcattggag	12	6	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.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*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q2309*	p.Q2309*			WXS	Illumina GAIIx	Phase_I					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	50	18	---	---	---	---	A	151878020	G	A	151878020	4	1	252	1	0	0	0	0	0	1	0	0	9622	1299	45	2	7906	2	MLL3	7	151878020	Nonsense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	23396439	151878020	7260643	6	9875										
GALNT12	79695	broad.mit.edu	37	chr9	101608342	101608342	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gctgtggaagcaggaatggaTacccttatcatgcatctctg	11	9	2	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.chr9:101608342T>C	ENST00000375011.3	+	9	1542	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	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	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			Somatic					p.D514D	NM_024642.4	NP_078918.3	WXS	Illumina GAIIx	Phase_I	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	22	38	---	---	---	---	C	101608342	T	C	101608342	2	2	252	1	0	0	0	0	0	0	0	1	6210	1403	49	2		2	GALNT12	9	101608342	Silent	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08		101608342	39605089	7	9876										
ADAMTS14	140766	broad.mit.edu	37	chr10	72511348	72511348	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tgctcctggaggagatggacAcctatgagtgggcgctcaag	15	9	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.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		Somatic				ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T848S	p.T851S	NM_139155.2	NP_631894.2	WXS	Illumina GAIIx	Phase_I	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	16	23	---	---	---	---	T	72511348	A	T	72511348	3	4	252	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	8	9877										
DCHS1	8642	broad.mit.edu	37	chr11	6643327	6643327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gtcgatacggggagctggggGacatggccgagcttcatcct	16	10	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.chr11:6643327G>A	ENST00000299441.3	-	21	9991	c.9580C>T	c.(9580-9582)Ccc>Tcc	p.P3194S	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000528657.1_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		Somatic				RP11-732A19.5_ENST00000526456.1_RNA	p.P3194S	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	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	3	24	---	---	---	---	A	6643327	G	A	6643327	3	1	252	1	0	0	0	0	1	0	0	0	4287	1174	41	2	320	2	DCHS1	11	6643327	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		6643327	128363189	9	9878										
TCN1	6947	broad.mit.edu	37	chr11	59620781	59620781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	atagggcccccatgagcgctCctccattgtgaaactgtggg	12	12	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.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		Somatic					p.E379K	NM_001062.3	NP_001053.2	WXS	Illumina GAIIx	Phase_I	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	32	49	---	---	---	---	T	59620781	C	T	59620781	3	4	252	1	0	0	0	0	1	0	0	0	15703	864	30	2	174	2	TCN1	11	59620781	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	52977454	59620781	75385735	10	9879										
DYNC2H1	79659	broad.mit.edu	37	chr11	103124075	103124075	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tacaatgaagaattccgcctCtttttgtcaacaagaaaccc	5	11	2	3	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_ENST00000398093.3_Silent_p.L3375L|DYNC2H1_ENST00000334267.7_Intron	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			Somatic				DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	p.L3368L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	WXS	Illumina GAIIx	Phase_I	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	36	5	---	---	---	---	G	103124075	C	G	103124075	2	3	252	1	0	0	0	0	0	0	0	1	4846	900	32	4		4	DYNC2H1	11	103124075	Silent	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	43503294	103124075	31882441	11	9880										
OR8D2	283160	broad.mit.edu	37	chr11	124189196	124189196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	cctagtcatcttcttcagtgCatttttcacatccttgttcc	4	13	5	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.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		Somatic					p.A300T	NM_001002918.1	NP_001002918.1	WXS	Illumina GAIIx	Phase_I	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	37	50	---	---	---	---	T	124189196	C	T	124189196	3	4	252	1	0	0	0	0	1	0	0	0	11232	710	25	2	40	2	OR8D2	11	124189196	Missense_Mutation	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08	21065121	124189196	10817320	12	9881										
PANX3	116337	broad.mit.edu	37	chr11	124489288	124489288	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gtggctacctacctcctgagGaactccctcttgctcatctt	7	15	3	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.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			Somatic					p.R212R	NM_052959.2	NP_443191.1	WXS	Illumina GAIIx	Phase_I	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	18	16	---	---	---	---	A	124489288	G	A	124489288	2	1	252	1	0	0	0	0	0	0	0	1	11422	1165	41	2		2	PANX3	11	124489288	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	300092	124489288	10517228	13	9882			1	19		5	4	349	N	G	4.619125e-12
PANX3	116337	broad.mit.edu	37	chr11	124489568	124489568	+	Missense_Mutation	SNP	G	G	A													0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	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		Somatic					p.E306K	NM_052959.2	NP_443191.1	WXS	Illumina GAIIx	Phase_I	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	21	45	---	---	---	---	A	124489568	G	A	124489568	3	1	252	1	0	0	0	0	1	0	0	0	11422	1291	45	2	930	2	PANX3	11	124489568	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	280	124489568	10516948	14	9883	17	2	1	19		5	4	349	N	G	4.619125e-12
PANX3	116337	broad.mit.edu	37	chr11	124489570	124489570	+	Silent	SNP	G	G	A													0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	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			Somatic					p.E306E	NM_052959.2	NP_443191.1	WXS	Illumina GAIIx	Phase_I	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	22	46	---	---	---	---	A	124489570	G	A	124489570	2	1	252	1	0	0	0	0	0	0	0	1	11422	933	33	2		2	PANX3	11	124489570	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	2	124489570	10516946	15	9884	17	2	1	19		5	4	349	N	G	4.619125e-12
PANX3	116337	broad.mit.edu	37	chr11	124489586	124489586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	atgagatgctcccagcttttGatctcctcagcagaaagatg	9	10	2	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.chr11:124489586G>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		Somatic					p.D312H	NM_052959.2	NP_443191.1	WXS	Illumina GAIIx	Phase_I	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	17	47	---	---	---	---	C	124489586	G	C	124489586	3	2	252	1	0	0	0	0	1	0	0	0	11422	1290	45	4	948	4	PANX3	11	124489586	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	16	124489586	10516930	16	9885			1	19		5	4	349	N	G	4.619125e-12
PANX3	116337	broad.mit.edu	37	chr11	124489636	124489636	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	cccatcaatgacctcaatgtGatccttcttttcctccgagc	5	15	3	2	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			Somatic					p.V328V	NM_052959.2	NP_443191.1	WXS	Illumina GAIIx	Phase_I	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	31	40	---	---	---	---	C	124489636	G	C	124489636	2	2	252	1	0	0	0	0	0	0	0	1	11422	1277	45	4		4	PANX3	11	124489636	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	50	124489636	10516880	17	9886			1	19		5	4	349	N	G	4.619125e-12
KERA	11081	broad.mit.edu	37	chr12	91449367	91449367	+	Frame_Shift_Del	DEL	T	T	-													0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	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)aatfs		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		Somatic					p.N231fs	NM_007035.3	NP_008966.1	WXS	Illumina GAIIx	Phase_I	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	252	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		91449367	42402528	18	9887										
KL	9365	broad.mit.edu	37	chr13	33628320	33628320	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	aaccatcctcaaatatttatTgtggaaaatggctggtttgt	8	6	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.chr13:33628320T>A	ENST00000380099.3	+	2	1244	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	KL_ENST00000426690.2_Silent_p.I105I|KL_ENST00000487852.1_3'UTR	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			Somatic				KL_ENST00000426690.2_Silent_p.I105I|KL_ENST00000487852.1_3'UTR	p.I412I	NM_004795.3	NP_004786.2	WXS	Illumina GAIIx	Phase_I	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	7	73	---	---	---	---	A	33628320	T	A	33628320	2	1	252	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	19	9888										
LCP1	3936	broad.mit.edu	37	chr13	46701744	46701744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	cctcacaccctcttcattccTttccccatgaggcaggcaaa	5	17	3	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.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			Somatic				LCP1_ENST00000323076.2_Silent_p.K622K|LCP1_ENST00000435666.2_Silent_p.K191K	p.K622K			WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	C	46701744	T	C	46701744	2	2	252	1	0	0	0	0	0	0	0	1	8691	1606	56	2		2	LCP1	13	46701744	Silent	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08	13073424	46701744	68468134	20	9889										
FOXA1	3169	broad.mit.edu	37	chr14	38061312	38061312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gtgccaccttgacgaagcagTcattgaaggacagcgagtgg	14	9	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.chr14:38061312T>C	ENST00000250448.2	-	2	738	c.677A>G	c.(676-678)gAc>gGc	p.D226G	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G	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		Somatic				FOXA1_ENST00000540786.1_Missense_Mutation_p.D193G|FOXA1_ENST00000545425.2_5'UTR	p.D226G	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	11	12	---	---	---	---	C	38061312	T	C	38061312	3	2	252	1	0	0	0	0	1	0	0	0	5989	1667	58	2	745	2	FOXA1	14	38061312	Missense_Mutation	SNP	T	TCGA-KK-A8IF-01A-11D-A364-08		38061312	69288228	21	9890										
TMC7	79905	broad.mit.edu	37	chr16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	attatgcactgaacatctctGagaagcggagactaaggttt	10	7	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.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*		Somatic				TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*|TMC7_ENST00000421369.3_5'UTR	p.E99*	NM_024847.3	NP_079123.3	WXS	Illumina GAIIx	Phase_I	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	4	152	---	---	---	---	T	19020721	G	T	19020721	4	4	252	1	0	0	0	0	0	1	0	0	15987	1291	45	3	301	3	TMC7	16	19020721	Nonsense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		19020721	71334032	22	9891										
CMIP	80790	broad.mit.edu	37	chr16	81735396	81735396	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	tgtgaccggcagcgggagctGaaggagctggtgagtccccg	18	10	0	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.chr16:81735396G>A	ENST00000537098.3	+	16	1959	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	CMIP_ENST00000398040.4_Silent_p.L476L|CMIP_ENST00000539778.2_Silent_p.L535L|CMIP_ENST00000566513.1_3'UTR	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	A	81735396	G	A	81735396	2	1	252	1	0	0	0	0	0	0	0	1	3578	1277	45	2		2	CMIP	16	81735396	Silent	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	62714675	81735396	8619357	23	9892										
SPOP	8405	broad.mit.edu	37	chr17	47696433	47696433	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	atgaatttcttgaatccccaGtctttgccttgcacaaacct	5	12	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.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_ENST00000504102.1_Missense_Mutation_p.D130E|SPOP_ENST00000513080.1_5'Flank|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)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.D130E|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	47	70	---	---	---	---	C	47696433	G	C	47696433	3	2	252	1	0	0	0	0	1	0	0	0	15083	1020	36	4	758	4	SPOP	17	47696433	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		47696433	33498777	24	9893										
SMCHD1	23347	broad.mit.edu	37	chr18	2770030	2770030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gcagcacttacaaaagaaaaGgaccaattatctcagtctat	6	9	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.chr18:2770030G>T	ENST00000320876.6	+	39	5228	c.4890G>T	c.(4888-4890)aaG>aaT	p.K1630N	SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N|RP11-703M24.5_ENST00000583546.1_RNA	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		Somatic				RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1630N	p.K1630N	NM_015295.2	NP_056110.2	WXS	Illumina GAIIx	Phase_I	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	17	34	---	---	---	---	T	2770030	G	T	2770030	3	4	252	1	0	0	0	0	1	0	0	0	14788	991	35	1	5044	1	SMCHD1	18	2770030	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08		2770030	75307218	25	9894										
TFAP2C	7022	broad.mit.edu	37	chr20	55208584	55208594	+	Frame_Shift_Del	DEL	TGAATGCTTAA	TGAATGCTTAA	-													0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	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)cctgaatgcttaaatfs		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		Somatic				TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.ECLN86fs	p.ECLN255fs	NM_003222.3	NP_003213.1	WXS	Illumina GAIIx	Phase_I	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		4	1005_1015	+			255					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	252	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	26	9895										
BIRC7	79444	broad.mit.edu	37	chr20	61870925	61870925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	gccccatctgcagagcccccGtccgcagccgcgtgcgcacc	11	21	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.chr20:61870925G>A	ENST00000217169.3	+	6	1079	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	MIR3196_ENST00000579556.1_RNA|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|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		Somatic				BIRC7_ENST00000342412.6_Missense_Mutation_p.V271I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V184I	p.V289I	NM_139317.1	NP_647478.1	WXS	Illumina GAIIx	Phase_I	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	21	11	---	---	---	---	A	61870925	G	A	61870925	3	1	252	1	0	0	0	0	1	0	0	0	1439	1145	40	2	887	2	BIRC7	20	61870925	Missense_Mutation	SNP	G	TCGA-KK-A8IF-01A-11D-A364-08	6662341	61870925	1154595	27	9896										
TBX1	6899	broad.mit.edu	37	chr22	19754359	19754359	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.185185185185185	5	0.930579858446434	2.15350877192982	3.23026315789474	1.43567251461988	1	1	0	ctcgtcggccggagccgcgcCgcccggctcctacgactatt	12	18	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.chr22:19754359C>G	ENST00000329705.7	+	8	1138				TBX1_ENST00000332710.4_Missense_Mutation_p.P486R|TBX1_ENST00000359500.3_Intron	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			Somatic				TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	p.P486R	NM_080647.1	NP_542378.1	WXS	Illumina GAIIx	Phase_I	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	4	8	---	---	---	---	G	19754359	C	G	19754359	1	3	252	0	1	0	0	0	0	0	0	0	15647	652	23	4		4	TBX1	22	19754359	Intron	SNP	C	TCGA-KK-A8IF-01A-11D-A364-08		19754359	31550207	28	9897										
C2orf79	391356	broad.mit.edu	37	chr2	25013322	25013322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	ttcaaatactggcccacttcTtccttggggtagggccggag	12	11	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.chr2:25013322T>G	ENST00000328379.5	-	2	385	c.381A>C	c.(379-381)gaA>gaC	p.E127D	PTRHD1_ENST00000487316.1_5'UTR|CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000473706.1_5'Flank	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																																						ENST00000328379.5																			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		Somatic				PTRHD1_ENST00000487316.1_5'UTR	p.E127D	NM_001013663.1	NP_001013685.1	WXS	Illumina GAIIx	Phase_I	Q6GMV3	PTRD1_HUMAN			2	385	-									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	23	43	---	---	---	---	G	25013322	T	G	25013322	3	3	253	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	1	9898										
SLC4A1AP	22950	broad.mit.edu	37	chr2	27907927	27907927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	ttaccccccaagcgtccagaActccctccaactctaatgag	5	17	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.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			Somatic					p.E633E	NM_018158.2	NP_060628.2	WXS	Illumina GAIIx	Phase_I	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	4	72	---	---	---	---	G	27907927	A	G	27907927	2	3	253	1	0	0	0	0	0	0	0	1	14653	40	2	2		2	SLC4A1AP	2	27907927	Silent	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08	2894605	27907927	215291446	2	9899										
SLC25A38	54977	broad.mit.edu	37	chr3	39436020	39436020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	aaactcatatgcagctttatCcactgaagtttcaatggatt	6	8	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.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		Somatic					p.P249S	NM_017875.2	NP_060345.2	WXS	Illumina GAIIx	Phase_I	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	38	79	---	---	---	---	T	39436020	C	T	39436020	3	4	253	1	0	0	0	0	1	0	0	0	14502	855	30	2	767	2	SLC25A38	3	39436020	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		39436020	158586410	3	9900										
DIRC2	84925	broad.mit.edu	37	chr3	122545901	122545901	+	Missense_Mutation	SNP	T	T	C													0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	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		Somatic					p.V231A	NM_032839.2	NP_116228.1	WXS	Illumina GAIIx	Phase_I	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	28	82	---	---	---	---	C	122545901	T	C	122545901	3	2	253	1	0	0	0	0	1	0	0	0	4534	1696	59	2	702	2	DIRC2	3	122545901	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08	83109881	122545901	75476529	4	9901	18	2								
DIRC2	84925	broad.mit.edu	37	chr3	122545904	122545904	+	Missense_Mutation	SNP	T	T	C													0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	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		Somatic					p.L232S	NM_032839.2	NP_116228.1	WXS	Illumina GAIIx	Phase_I	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	27	79	---	---	---	---	C	122545904	T	C	122545904	3	2	253	1	0	0	0	0	1	0	0	0	4534	1764	61	2	705	2	DIRC2	3	122545904	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08	3	122545904	75476526	5	9902	18	2								
LRRC66	339977	broad.mit.edu	37	chr4	52860765	52860765	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	ctaagggactattccctggtGacctgggccagggtgacagg	15	10	0	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.chr4:52860765G>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*		Somatic					p.S808*	NM_001024611.1	NP_001019782.1	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	C	52860765	G	C	52860765	4	2	253	1	0	0	0	0	0	1	0	0	9018	1294	45	4	223	4	LRRC66	4	52860765	Nonsense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		52860765	138293511	6	9903										
METTL14	57721	broad.mit.edu	37	chr4	119609163	119609163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	tgctgaaacaagagaaacttGcaggtcagtcagataattct	9	7	3	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																																						ENST00000388822.5																			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		Somatic				METTL14_ENST00000506780.1_Missense_Mutation_p.A13S	p.C51F			WXS	Illumina GAIIx	Phase_I	Q9HCE5	MTL14_HUMAN			2	319	+								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	10	12	---	---	---	---	T	119609163	G	T	119609163	3	4	253	1	0	0	0	0	1	0	0	0	9498	1319	46	3	158	3	METTL14	4	119609163	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	66748398	119609163	71545113	7	9904										
PHF17	79960	broad.mit.edu	37	chr4	129782991	129782991	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	gcccaaagcacagctcacatAggaaacccgaggagagtctt	10	12	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.chr4:129782991A>T	ENST00000226319.6	+	9	1394	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	PHF17_ENST00000511647.1_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_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	79960				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		Somatic				PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W	p.R372W	NM_199320.2	NP_955352.1	WXS	Illumina GAIIx	Phase_I	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	8	135	---	---	---	---	T	129782991	A	T	129782991	3	4	253	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	8	9905										
PCDH18	54510	broad.mit.edu	37	chr4	138452054	138452054	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	accatgtccatgaagcttacAaactatttctccattcagcc	4	13	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.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_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000511115.1_Intron|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		Somatic				PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron	p.C397G	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	3	70	---	---	---	---	C	138452054	A	C	138452054	3	2	253	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	9	9906										
CD180	4064	broad.mit.edu	37	chr5	66479763	66479763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	agtgagttgctgtcagatccAattcttggagttgggtgaag	14	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.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		Somatic					p.L303S	NM_005582.2	NP_005573.2	WXS	Illumina GAIIx	Phase_I	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	25	55	---	---	---	---	G	66479763	A	G	66479763	3	3	253	1	0	0	0	0	1	0	0	0	2972	131	5	2	1081	2	CD180	5	66479763	Missense_Mutation	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08		66479763	114435497	10	9907										
DOPEY1	23033	broad.mit.edu	37	chr6	83850061	83850061	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	actgcatcaagctgattcttCagaaaagatgactattgccg	8	9	3	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_ENST00000369739.3_Nonsense_Mutation_p.S1776*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR	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*		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	84	---	---	---	---	A	83850061	C	A	83850061	4	1	253	1	0	0	0	0	0	1	0	0	4707	838	29	3	5436	3	DOPEY1	6	83850061	Nonsense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		83850061	87265006	11	9908										
C7orf42	55069	broad.mit.edu	37	chr7	66413640	66413640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	caggtggtattcacagcctgCatgaccctcacggccagccc	10	16	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.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			Somatic					p.C185C	NM_017994.4	NP_060464.1	WXS	Illumina GAIIx	Phase_I					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	3	36	---	---	---	---	T	66413640	C	T	66413640	2	4	253	1	0	0	0	0	0	0	0	1	2392	718	25	2		2	C7orf42	7	66413640	Silent	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		66413640	92725023	12	9909										
CSMD3	114788	broad.mit.edu	37	chr8	113240989	113240989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	aaatcaatgagcttacctttGtttataaagataaaatccaa	4	6	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.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_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K	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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	63	---	---	---	---	T	113240989	G	T	113240989	3	4	253	1	0	0	0	0	1	0	0	0	3946	1386	48	3	171	3	CSMD3	8	113240989	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		113240989	33123033	13	9910										
PNPLA7	375775	broad.mit.edu	37	chr9	140444626	140444626	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	cccgagttacatacctgtggGctgtcatctttctcttcctc	7	14	3	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.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		Somatic				PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R	p.S8R	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	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	25	47	---	---	---	---	C	140444626	G	C	140444626	3	2	253	1	0	0	0	0	1	0	0	0	12170	1194	42	4	4144	4	PNPLA7	9	140444626	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08		140444626	768805	14	9911										
ZNF518A	9849	broad.mit.edu	37	chr10	97917472	97917472	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	taaaattggtgcctatcaaaCaaaatgtatgttcaccaggc	7	8	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.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			Somatic								WXS	Illumina GAIIx	Phase_I	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	27	56	---	---	---	---	G	97917472	C	G	97917472	1	3	253	0	1	0	0	0	0	0	0	0	17959	479	17	4		4	ZNF518A	10	97917472	RNA	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		97917472	37617275	15	9912										
TACC2	10579	broad.mit.edu	37	chr10	123844789	123844789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	cactgacatggtttgggagaGttctctgacagaagagtcag	13	7	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.chr10:123844789G>T	ENST00000369005.1	+	4	3114	c.2774G>T	c.(2773-2775)aGt>aTt	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|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron	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		Somatic				TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I	p.S925I	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	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	25	50	---	---	---	---	T	123844789	G	T	123844789	3	4	253	1	0	0	0	0	1	0	0	0	15499	1029	36	3	2784	3	TACC2	10	123844789	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	25927317	123844789	11689958	16	9913										
KBTBD3	143879	broad.mit.edu	37	chr11	105929646	105929646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	gatgacacgggattatttcaTctttcataattattttgaaa	6	5	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.chr11:105929646T>C	ENST00000531482.2	-	1	192	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KBTBD3_ENST00000526793.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000531837.1_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		Somatic				KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G	p.D60G	NM_152433.3	NP_689646.2	WXS	Illumina GAIIx	Phase_I	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	16	38	---	---	---	---	C	105929646	T	C	105929646	3	2	253	1	0	0	0	0	1	0	0	0	7994	1435	50	2	1667	2	KBTBD3	11	105929646	Missense_Mutation	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08		105929646	29076870	17	9914										
THY1	7070	broad.mit.edu	37	chr11	119291595	119291595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	gtacctgttagcaggagagcGatgctgatggccaggttcat	14	8	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.chr11:119291595G>A	ENST00000284240.5	-	2	1060	c.21C>T	c.(19-21)atC>atT	p.I7I	USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_Intron|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000528522.1_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			Somatic				USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA	p.I7I	NM_006288.3	NP_006279.2	WXS	Illumina GAIIx	Phase_I	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	17	143	---	---	---	---	A	119291595	G	A	119291595	2	1	253	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	13361949	119291595	15714921	18	9915										
ARHGAP32	9743	broad.mit.edu	37	chr11	128993409	128993409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	agccatcttcggaaagtgacCtttagtgaagggtaacctga	11	8	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.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		Somatic				ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	p.G112S	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	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	7	15	---	---	---	---	T	128993409	C	T	128993409	3	4	253	1	0	0	0	0	1	0	0	0	881	681	24	2	6005	2	ARHGAP32	11	128993409	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	9701814	128993409	6013107	19	9916										
ARHGAP5	394	broad.mit.edu	37	chr14	32562152	32562152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	gtattggaatcagttaaacaCaatttggatgtggtgagccc	11	6	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.chr14:32562152C>A	ENST00000345122.3	+	2	2592	c.2277C>A	c.(2275-2277)caC>caA	p.H759Q	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000433497.1_Intron	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		Somatic				ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q	p.H759Q	NM_001030055.1	NP_001025226.1	WXS	Illumina GAIIx	Phase_I	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	19	77	---	---	---	---	A	32562152	C	A	32562152	3	1	253	1	0	0	0	0	1	0	0	0	886	477	17	3	2279	3	ARHGAP5	14	32562152	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08		32562152	74787388	20	9917										
FOXA1	3169	broad.mit.edu	37	chr14	38061202	38061203	+	Frame_Shift_Ins	INS	-	-	GCGGC													0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	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_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs|FOXA1_ENST00000545425.2_5'UTR	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)cgccagfs		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		Somatic				FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs|FOXA1_ENST00000545425.2_5'UTR	p.Q263fs	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	253	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	21	9918										
SSTR1	6751	broad.mit.edu	37	chr14	38679570	38679570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	accccatcctctatggctttCtctcagacaacttcaagcgc	5	16	4	1	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	6751				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		Somatic					p.L326F	NM_001049.2	NP_001040.1	WXS	Illumina GAIIx	Phase_I	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	28	58	---	---	---	---	T	38679570	C	T	38679570	3	4	253	1	0	0	0	0	1	0	0	0	15196	913	32	2	978	2	SSTR1	14	38679570	Missense_Mutation	SNP	C	TCGA-KK-A8IG-01A-11D-A364-08	618368	38679570	68669970	22	9919										
WDR73	84942	broad.mit.edu	37	chr15	85189499	85189499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	atggaggactccgggtgccaAtgtggagaagacggccaccc	15	11	0	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.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			Somatic				WDR73_ENST00000398528.3_5'UTR	p.L145L	NM_032856.2	NP_116245.2	WXS	Illumina GAIIx	Phase_I	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	6	32	---	---	---	---	G	85189499	A	G	85189499	2	3	253	1	0	0	0	0	0	0	0	1	17320	98	4	2		2	WDR73	15	85189499	Silent	SNP	A	TCGA-KK-A8IG-01A-11D-A364-08		85189499	17341893	23	9920										
ACAN	176	broad.mit.edu	37	chr15	89392695	89392695	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	tgttcttcgccacacgccttGagcagttcaccttccaggaa	8	14	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.chr15:89392695G>C	ENST00000561243.1	+	9	1759	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E587Q|ACAN_ENST00000559004.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	12	---	---	---	---	C	89392695	G	C	89392695	3	2	253	1	0	0	0	0	1	0	0	0	117	1291	45	4	1793	4	ACAN	15	89392695	Missense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	4203196	89392695	13138697	24	9921										
EVPLL	645027	broad.mit.edu	37	chr17	18286659	18286659	+	Frame_Shift_Del	DEL	G	G	-													0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	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)gtgfs		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		Somatic				RP1-37N7.1_ENST00000579352.1_RNA	p.V249fs	NM_001145127.1	NP_001138599.1	WXS	Illumina GAIIx	Phase_I	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	253	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		18286659	62908551	25	9922										
OTOP2	92736	broad.mit.edu	37	chr17	72926516	72926516	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	accatgctgtatgtcatgtgGaagaatgtgggtagattcct	12	6	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.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*		Somatic				OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262*	p.W262*	NM_178160.2	NP_835454.1	WXS	Illumina GAIIx	Phase_I	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	121	123	---	---	---	---	A	72926516	G	A	72926516	4	1	253	1	0	0	0	0	0	1	0	0	11306	1183	41	2	804	2	OTOP2	17	72926516	Nonsense_Mutation	SNP	G	TCGA-KK-A8IG-01A-11D-A364-08	54639857	72926516	8268694	26	9923										
NCCRP1	342897	broad.mit.edu	37	chr19	39691043	39691043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	ctgcatgtctggctgctggcGgccgaccgccgcacggtcat	14	15	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.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			Somatic					p.A202A	NM_001001414.1	NP_001001414.1	WXS	Illumina GAIIx	Phase_I	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	10	136	---	---	---	---	A	39691043	G	A	39691043	2	1	253	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		39691043	19437940	27	9924										
TOP1	7150	broad.mit.edu	37	chr20	39725936	39725936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.54988913525499	2.84146341463415	0.81184668989547	1	1	0	atgctcgaccatgaatatacTaccaaggaaatatttaggaa	7	7	0	1	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			Somatic					p.T269T	NM_003286.2	NP_003277.1	WXS	Illumina GAIIx	Phase_I	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	28	62	---	---	---	---	C	39725936	T	C	39725936	2	2	253	1	0	0	0	0	0	0	0	1	16360	1509	53	2		2	TOP1	20	39725936	Silent	SNP	T	TCGA-KK-A8IG-01A-11D-A364-08		39725936	23299584	28	9925										
HMGCL	3155	broad.mit.edu	37	chr1	24130988	24130988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagcctccaagtcctgccaCagaagagtccacgacactca	7	16	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.chr1:24130988C>T	ENST00000374490.3	-	8	821	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M|HMGCL_ENST00000374483.4_Missense_Mutation_p.V235M	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		Somatic				HMGCL_ENST00000374490.3_Missense_Mutation_p.V260M|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M	p.V235M			WXS	Illumina GAIIx	Phase_I	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	15	44	---	---	---	---	T	24130988	C	T	24130988	3	4	254	1	0	0	0	0	1	0	0	0	7229	478	17	2	207	2	HMGCL	1	24130988	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		24130988	225119633	1	9926										
KCNK2	3776	broad.mit.edu	37	chr1	215408426	215408426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagactgagagtatctatCtgaatggtttgacgccacac	10	8	2	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.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		Somatic				KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M|KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M	p.L407M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	WXS	Illumina GAIIx	Phase_I	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	10	68	---	---	---	---	A	215408426	C	A	215408426	3	1	254	1	0	0	0	0	1	0	0	0	8066	912	32	3	1288	3	KCNK2	1	215408426	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	191277438	215408426	33842195	2	9927										
C2orf34	79823	broad.mit.edu	37	chr2	44599960	44599960	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	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_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000402247.1_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)gaafs		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		Somatic				CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs	p.E84fs	NM_024766.4	NP_079042.1	WXS	Illumina GAIIx	Phase_I	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	254	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	3	9928										
BAZ2B	29994	broad.mit.edu	37	chr2	160285752	160285754	+	In_Frame_Del	DEL	TCT	TCT	-													0	0	1	0	0	0	1	1	0	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_ENST00000392782.1_In_Frame_Del_p.R736del|BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del	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)agadel		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		Somatic				BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del|BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del	p.R738del	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	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	254	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	115685792	160285752	82913621	4	9929										
PIK3CB	5291	broad.mit.edu	37	chr3	138376590	138376590	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgacatggatgaaatcatAggtaagaataaaaggcactc	9	5	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.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		Somatic				PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N	p.Y962N			WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	T	138376590	A	T	138376590	3	4	254	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	5	9930										
FAM13A	10144	broad.mit.edu	37	chr4	89668954	89668954	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggagtgtgttgcttcgcTgccgcatcctgggagttagg	17	8	0	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.chr4:89668954T>C	ENST00000264344.5	-	18	2417	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R	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		Somatic				FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R	p.Q737R	NM_014883.3	NP_055698.2	WXS	Illumina GAIIx	Phase_I	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	17	69	---	---	---	---	C	89668954	T	C	89668954	3	2	254	1	0	0	0	0	1	0	0	0	5452	1580	55	2	889	2	FAM13A	4	89668954	Missense_Mutation	SNP	T	TCGA-KK-A8IH-01A-11D-A364-08		89668954	101485322	6	9931										
MARCH1	55016	broad.mit.edu	37	chr4	164534558	164534558	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcttgcctggagaaacaaGttagataatttggcatcttg	10	7	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.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			Somatic				MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	p.N33K	NM_017923.3	NP_060393.1	WXS	Illumina GAIIx	Phase_I	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	17	36	---	---	---	---	C	164534558	G	C	164534558	1	2	254	0	1	0	0	0	0	0	0	0	9298	1020	36	4		4	MARCH1	4	164534558	Intron	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	74865604	164534558	26619718	7	9932										
KCNK5	8645	broad.mit.edu	37	chr6	39159466	39159466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagggacagccaggccagccCcaagtagatccagagctcca	11	14	0	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.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		Somatic					p.G234R	NM_003740.3	NP_003731.1	WXS	Illumina GAIIx	Phase_I	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	17	62	---	---	---	---	T	39159466	C	T	39159466	3	4	254	1	0	0	0	0	1	0	0	0	8069	623	22	2	803	2	KCNK5	6	39159466	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		39159466	131955601	8	9933										
CYP2W1	54905	broad.mit.edu	37	chr7	1027017	1027017	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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)ggcfs		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		Somatic				CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.G331fs	p.G275fs			WXS	Illumina GAIIx	Phase_I	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	254	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	9	9934										
MTMR7	9108	broad.mit.edu	37	chr8	17188685	17188685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcattttctgcagactgttcCtcatgacatggatgttctct	8	10	3	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.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		Somatic				MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	p.R280K	NM_004686.4	NP_004677.3	WXS	Illumina GAIIx	Phase_I	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	7	45	---	---	---	---	T	17188685	C	T	17188685	3	4	254	1	0	0	0	0	1	0	0	0	9948	681	24	2	1175	2	MTMR7	8	17188685	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		17188685	129175337	10	9935										
BAI1	575	broad.mit.edu	37	chr8	143565394	143565394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagaatcgggacaagtgggaGgaggcccagctggtagggcc	19	8	0	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			Somatic				BAI1_ENST00000323289.5_Silent_p.E729E	p.E729E			WXS	Illumina GAIIx	Phase_I	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	5	95	---	---	---	---	A	143565394	G	A	143565394	2	1	254	1	0	0	0	0	0	0	0	1	1298	991	35	2		2	BAI1	8	143565394	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	126376709	143565394	2798628	11	9936										
TTC18	118491	broad.mit.edu	37	chr10	75029417	75029417	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccatacttcagcattgtaGttgttcaatgcattggcttc	8	10	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.chr10:75029417G>C	ENST00000310715.3	-	26	3312	c.3192C>G	c.(3190-3192)aaC>aaG	p.N1064K	TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000493787.1_Intron|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																																						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.(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		Somatic				TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K|TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K	p.N1064K	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	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	5	37	---	---	---	---	C	75029417	G	C	75029417	3	2	254	1	0	0	0	0	1	0	0	0	16682	1020	36	4	185	4	TTC18	10	75029417	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		75029417	60505330	12	9937										
SNX19	399979	broad.mit.edu	37	chr11	130775905	130775905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tgcatctgacacgcaactgtCcacacgtcctttgggaggtt	10	12	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.chr11:130775905C>T	ENST00000265909.4	-	7	2955	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000530356.1_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		Somatic				SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000530356.1_Missense_Mutation_p.D176N	p.D796N	NM_014758.2	NP_055573	WXS	Illumina GAIIx	Phase_I	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	9	40	---	---	---	---	T	130775905	C	T	130775905	3	4	254	1	0	0	0	0	1	0	0	0	14890	855	30	2	612	2	SNX19	11	130775905	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		130775905	4230611	13	9938										
GUCY2C	2984	broad.mit.edu	37	chr12	14766078	14766078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggtgctctccttgtctgtGgtattcagctgcaagtattc	10	9	3	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.chr12:14766078G>A	ENST00000261170.3	-	27	3331	c.3195C>T	c.(3193-3195)acC>acT	p.T1065T	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_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			Somatic				RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.T1065T	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	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	58	98	---	---	---	---	A	14766078	G	A	14766078	2	1	254	1	0	0	0	0	0	0	0	1	6896	1335	47	2		2	GUCY2C	12	14766078	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		14766078	119085817	14	9939										
PRKAB1	5564	broad.mit.edu	37	chr12	120110138	120110138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggaattcctggcctggcaGcatgatctggaagtgaatga	14	7	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.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			Somatic				PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.Q64Q	p.Q64Q	NM_006253.4	NP_006244.2	WXS	Illumina GAIIx	Phase_I	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	4	121	---	---	---	---	A	120110138	G	A	120110138	2	1	254	1	0	0	0	0	0	0	0	1	12495	962	34	2		2	PRKAB1	12	120110138	Silent	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	105344060	120110138	13741757	15	9940										
CIT	11113	broad.mit.edu	37	chr12	120214536	120214536	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattcttcagcagcaagccgAgactctctcagctcagattc	7	13	5	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.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			Somatic				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S592S	p.S592S	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	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	7	73	---	---	---	---	C	120214536	A	C	120214536	2	2	254	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	16	9941										
CES1	1066	broad.mit.edu	37	chr16	55866955	55866955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagagtggccaggataaaggCacggagccacatcgtggaag	16	8	0	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_ENST00000360526.3_Missense_Mutation_p.A5S|CES1_ENST00000422046.2_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		Somatic				CES1_ENST00000360526.3_Missense_Mutation_p.A5S|CES1_ENST00000361503.4_Missense_Mutation_p.A5S	p.A5S			WXS	Illumina GAIIx	Phase_I	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	5	11	---	---	---	---	A	55866955	C	A	55866955	3	1	254	1	0	0	0	0	1	0	0	0	3269	710	25	3	1749	3	CES1	16	55866955	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08		55866955	34487798	17	9942										
GOT2	2806	broad.mit.edu	37	chr16	58752108	58752108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcgtcctcaccttcaccaCtgttgctatttccttccact	3	17	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.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		Somatic				GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	p.V232M	NM_002080.2	NP_002071.2	WXS	Illumina GAIIx	Phase_I	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	9	55	---	---	---	---	T	58752108	C	T	58752108	3	4	254	1	0	0	0	0	1	0	0	0	6581	565	20	2	618	2	GOT2	16	58752108	Missense_Mutation	SNP	C	TCGA-KK-A8IH-01A-11D-A364-08	2885153	58752108	31602645	18	9943										
TRIM37	4591	broad.mit.edu	37	chr17	57140009	57140009	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgctctctgacgcaaagtGctaacgaaaaagaaaaccaa	7	10	2	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.chr17:57140009G>C	ENST00000262294.7	-	11	1120	c.861C>G	c.(859-861)agC>agG	p.S287R	TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000376149.3_Splice_Site_p.S165R|TRIM37_ENST00000393065.2_Splice_Site_p.S253R	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.(493-495)agC>agG		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			Somatic				TRIM37_ENST00000262294.7_Splice_Site_p.S287R|TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000393065.2_Splice_Site_p.S253R	p.S165R			WXS	Illumina GAIIx	Phase_I	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.495C>G	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	3	19	---	---	---	---	C	57140009	G	C	57140009	5	2	254	1	0	0	0	0	0	0	1	0	16508	1333	46	4	2097	4	TRIM37	17	57140009	Splice_Site	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		57140009	24055201	19	9944										
BIRC5	332	broad.mit.edu	37	chr17	76212836	76212836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggtgaatttttgaaactgGacagagaaagagccaagaac	11	5	0	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.chr17:76212836G>T	ENST00000350051.3	+	3	432	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000301633.4_Missense_Mutation_p.D128Y|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000589892.1_3'UTR	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		Somatic				AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.D105Y|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR	p.D128Y	NM_001012271.1	NP_001012271.1	WXS	Illumina GAIIx	Phase_I	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	19	40	---	---	---	---	T	76212836	G	T	76212836	3	4	254	1	0	0	0	0	1	0	0	0	1437	1174	41	3	396	3	BIRC5	17	76212836	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08	19072827	76212836	4982374	20	9945										
VAPA	9218	broad.mit.edu	37	chr18	9954142	9954143	+	Frame_Shift_Del	DEL	TC	TC	-													0	0	1	0	0	0	1	1	0	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)cttcctfs		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		Somatic				VAPA_ENST00000340541.4_Frame_Shift_Del_p.P274fs	p.P229fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	WXS	Illumina GAIIx	Phase_I	Q9P0L0	VAPA_HUMAN			6	939_940	+			229					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	254	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	21	9946										
SIGLEC12	89858	broad.mit.edu	37	chr19	52001535	52001535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgagccattcctcaaggttGtggatgctgtagagaaagag	13	8	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.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		Somatic				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	p.T381K	NM_053003.2	NP_443729.1	WXS	Illumina GAIIx	Phase_I	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	5	1	---	---	---	---	T	52001535	G	T	52001535	3	4	254	1	0	0	0	0	1	0	0	0	14308	1377	48	3	661	3	SIGLEC12	19	52001535	Missense_Mutation	SNP	G	TCGA-KK-A8IH-01A-11D-A364-08		52001535	7127448	22	9947										
MCM8	84515	broad.mit.edu	37	chr20	5965634	5965639	+	In_Frame_Del	DEL	AGAAAG	AGAAAG	-													0	0	1	0	0	0	1	1	0	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_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del|MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del	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)tcagaaaga>tca		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		Somatic				MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del|MCM8_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del	p.ER648del	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	WXS	Illumina GAIIx	Phase_I	Q9UJA3	MCM8_HUMAN			15	2318_2323	+			648					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	254	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	23	9948										
IL3RA	3563	broad.mit.edu	37	chrX	1499970	1499970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cctcacatgaaagaccccatCggtgacagcttccaaaacga	7	14	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.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			Somatic				IL3RA_ENST00000381469.2_Silent_p.I267I	p.I345I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	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	89	159	---	---	---	---	T	1499970	C	T	1499970	2	4	254	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	24	9949										
KLHL15	80311	broad.mit.edu	37	chrX	24007025	24007025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagtttgcggttttgcagaAcggatgcggcttgacttcat	13	7	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.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			Somatic					p.R276R	NM_030624.2	NP_085127.2	WXS	Illumina GAIIx	Phase_I	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	5	86	---	---	---	---	G	24007025	A	G	24007025	2	3	254	1	0	0	0	0	0	0	0	1	8371	30	2	2		2	KLHL15	23	24007025	Silent	SNP	A	TCGA-KK-A8IH-01A-11D-A364-08	22507055	24007025	131263535	25	9950										
KLHL20	27252	broad.mit.edu	37	chr1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	aatacagtattcaggaaagaCgtcctcaattaccccaggta	7	10	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.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		Somatic				KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	p.R247S	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	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	13	26	---	---	---	---	A	173721044	C	A	173721044	3	1	255	1	0	0	0	0	1	0	0	0	8375	536	19	3	749	3	KLHL20	1	173721044	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		173721044	75529577	1	9951										
CD34	947	broad.mit.edu	37	chr1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	ctgtggggctccagctgcggCgattcatcaggaaatagcca	13	11	2	0	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_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000356522.4_Missense_Mutation_p.R314H	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		Somatic				CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H	p.R314H	NM_001773.2	NP_001764.1	WXS	Illumina GAIIx	Phase_I	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	85	104	---	---	---	---	T	208062058	C	T	208062058	3	4	255	1	0	0	0	0	1	0	0	0	3006	768	27	2	243	2	CD34	1	208062058	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	34341014	208062058	41188563	2	9952										
RAB4A	5867	broad.mit.edu	37	chr1	229431652	229431652	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gctctcctcgtctatgatatCaccaggtaatgccagctccc	7	15	3	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.chr1:229431652C>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			Somatic				RAB4A_ENST00000473894.1_3'UTR	p.I95I	NM_004578.2	NP_004569.2	WXS	Illumina GAIIx	Phase_I	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	16	25	---	---	---	---	T	229431652	C	T	229431652	2	4	255	1	0	0	0	0	0	0	0	1	12946	816	29	2		2	RAB4A	1	229431652	Silent	SNP	C	TCGA-KK-A8II-01A-11D-A364-08	21369594	229431652	19818969	3	9953										
GOLGA4	2803	broad.mit.edu	37	chr3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	aaactaatgccattctttctAggatttctcattgtcagcac	5	10	4	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.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron	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		Somatic				GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron	p.R1249G	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	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	30	46	---	---	---	---	G	37367122	A	G	37367122	3	3	255	1	0	0	0	0	1	0	0	0	6555	411	15	2	3869	2	GOLGA4	3	37367122	Missense_Mutation	SNP	A	TCGA-KK-A8II-01A-11D-A364-08		37367122	160655308	4	9954										
TFG	10342	broad.mit.edu	37	chr3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gccaagaccccttgaatcaaGtcaggtgaaatatctccgtc	8	12	3	3	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_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_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		Somatic				TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T	p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	WXS	Illumina GAIIx	Phase_I	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	45	40	---	---	---	---	C	100447586	G	C	100447586	3	2	255	1	0	0	0	0	1	0	0	0	15803	1029	36	4	309	4	TFG	3	100447586	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	63080464	100447586	97574844	5	9955										
CDH9	1007	broad.mit.edu	37	chr5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gccctcctttacatcttcatCtacttctatcaagtaagaga	4	12	5	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.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		Somatic					p.D393Y	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	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	5	70	---	---	---	---	A	26902661	C	A	26902661	3	1	255	1	0	0	0	0	1	0	0	0	3117	913	32	3	1216	3	CDH9	5	26902661	Missense_Mutation	SNP	C	TCGA-KK-A8II-01A-11D-A364-08		26902661	154012599	6	9956										
EYS	346007	broad.mit.edu	37	chr6	66115238	66115238	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	agcagagaaacacaaggtttTgctgacacctcacagaatgg	10	9	1	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.chr6:66115238T>G	ENST00000370621.3	-	6	1411	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000503581.1_Silent_p.A295A|EYS_ENST00000370618.3_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			Somatic				EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A	p.A295A	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	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	56	65	---	---	---	---	G	66115238	T	G	66115238	2	3	255	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	7	9957										
DDX56	54606	broad.mit.edu	37	chr7	44611159	44611159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	aactgttccaagaacaggcgTagccggtaactccgttctag	10	11	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.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L	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			Somatic				DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L	p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	WXS	Illumina GAIIx	Phase_I	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	17	35	---	---	---	---	C	44611159	T	C	44611159	2	2	255	1	0	0	0	0	0	0	0	1	4374	1625	57	2		2	DDX56	7	44611159	Silent	SNP	T	TCGA-KK-A8II-01A-11D-A364-08		44611159	114527504	8	9958										
MLL3	58508	broad.mit.edu	37	chr7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gctggagaatgatttcacgtAacttctgccgctaaatggga	11	8	2	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.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*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*	p.L2387*			WXS	Illumina GAIIx	Phase_I					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	55	69	---	---	---	---	C	151877201	A	C	151877201	4	2	255	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	9	9959										
TTC39B	158219	broad.mit.edu	37	chr9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gcagataccagggcaggtaaGatgagcttcacaggtgcagg	15	8	1	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_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M			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																																						ENST00000512701.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1600-1602)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		Somatic				TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M	p.I534M			WXS	Illumina GAIIx	Phase_I	Q5VTQ0	TT39B_HUMAN			16	1638	-								A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1602C>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	5	82	---	---	---	---	C	15185290	G	C	15185290	3	2	255	1	0	0	0	0	1	0	0	0	16705	932	33	4	466	4	TTC39B	9	15185290	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		15185290	126028141	10	9960										
FANK1	92565	broad.mit.edu	37	chr10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	ggggatatgcaacgaagcatGttgttgaaggtctggaacca	14	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.chr10:127677139G>C	ENST00000368693.1	+	3	315	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L	FANK1_ENST00000368695.1_Missense_Mutation_p.V65L|FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_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		Somatic				FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L	p.V65L	NM_145235.3	NP_660278.3	WXS	Illumina GAIIx	Phase_I	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	6	113	---	---	---	---	C	127677139	G	C	127677139	3	2	255	1	0	0	0	0	1	0	0	0	5672	1377	48	4	221	4	FANK1	10	127677139	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		127677139	7857608	11	9961										
ZNF143	7702	broad.mit.edu	37	chr11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	ggctgatgggacagtggcagGtctgcacactggggatgcta	17	8	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_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D	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		Somatic				ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D	p.G168D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	WXS	Illumina GAIIx	Phase_I	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	35	41	---	---	---	---	A	9500066	G	A	9500066	3	1	255	1	0	0	0	0	1	0	0	0	17729	1261	44	2	521	2	ZNF143	11	9500066	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		9500066	125506450	12	9962										
OR4C3	256144	broad.mit.edu	37	chr11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gaagaggtaaaaaatgccatGagaaagctctttacatggta	10	5	1	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.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		Somatic					p.M323I	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	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	14	24	---	---	---	---	A	48347461	G	A	48347461	3	1	255	1	0	0	0	0	1	0	0	0	11050	1290	45	2	971	2	OR4C3	11	48347461	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	38847395	48347461	86659055	13	9963										
C13orf26	122046	broad.mit.edu	37	chr13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	agtttatttcccttactaagAgagactttgtggacagatca	8	7	1	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.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*		Somatic				TEX26_ENST00000530916.1_3'UTR	p.R149*	NM_152325.1	NP_689538.1	WXS	Illumina GAIIx	Phase_I	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	24	72	---	---	---	---	T	31531142	A	T	31531142	4	4	255	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	14	9964										
ISM2	145501	broad.mit.edu	37	chr14	77948909	77948909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	cagaggaaggaccagagggcGggcagccagctaagggtatc	17	9	0	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_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Silent_p.P155P	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			Somatic				ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Silent_p.P162P	p.P155P			WXS	Illumina GAIIx	Phase_I	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	27	37	---	---	---	---	A	77948909	G	A	77948909	2	1	255	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		77948909	29400631	15	9965										
ONECUT1	3175	broad.mit.edu	37	chr15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	gttgtggatgctgcccagacCggagctggagaggggcgaga	19	8	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.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		Somatic				ONECUT1_ENST00000561401.2_Intron	p.G186S	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	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	27	32	---	---	---	---	T	53081526	C	T	53081526	3	4	255	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	16	9966										
ACSBG1	23205	broad.mit.edu	37	chr15	78526789	78526789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	tggggtctctctgctgtccaGcatgctggggtccccgtgtg	15	12	2	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_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron	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			Somatic				ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron	p.L19L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	WXS	Illumina GAIIx	Phase_I	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	76	105	---	---	---	---	A	78526789	G	A	78526789	2	1	255	1	0	0	0	0	0	0	0	1	173	962	34	2		2	ACSBG1	15	78526789	Silent	SNP	G	TCGA-KK-A8II-01A-11D-A364-08	25445263	78526789	24004603	17	9967										
TP53	7157	broad.mit.edu	37	chr17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-													0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	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_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_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)	Somatic				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	255	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		7578555	73616655	18	9968										
ITSN1	6453	broad.mit.edu	37	chr21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	caaaaaagacaaccacttaaAttttaacaaaaatgatgtca	3	7	1	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.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|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_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T	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		Somatic				ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T	p.N933T	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	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	6	59	---	---	---	---	C	35190641	A	C	35190641	3	2	255	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	19	9969										
GLUD2	2747	broad.mit.edu	37	chrX	120182329	120182329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.15	3	1	1.68475073313783	2.05913978494624	1.54435483870968	1	1	0	taaacccatcagccaaggggGaatccatggacgcatctctg	10	12	2	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.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		Somatic					p.G264E	NM_012084.3	NP_036216.2	WXS	Illumina GAIIx	Phase_I	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	32	4	---	---	---	---	A	120182329	G	A	120182329	3	1	255	1	0	0	0	0	1	0	0	0	6477	1174	41	2	793	2	GLUD2	23	120182329	Missense_Mutation	SNP	G	TCGA-KK-A8II-01A-11D-A364-08		120182329	35088231	20	9970										
CSMD2	114784	broad.mit.edu	37	chr1	34006159	34006159	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	agctctccggtccaggacccAtttccctcacaggtgaacac	8	16	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.chr1:34006159A>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		Somatic					p.N3199K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	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	12	42	---	---	---	---	C	34006159	A	C	34006159	3	2	256	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	9971										
PTCH2	8643	broad.mit.edu	37	chr1	45295346	45295346	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	gcctgctcctcactccagccAatgtcatgtgtctgatagtc	8	14	3	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			Somatic				PTCH2_ENST00000372192.3_Silent_p.I341I	p.I341I	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	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	7	71	---	---	---	---	T	45295346	A	T	45295346	2	4	256	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	9972										
CD160	11126	broad.mit.edu	37	chr1	145699056	145699056	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	ctgaactcaaggtgttgtctTtgtttcaatcccgtcactgt	8	10	4	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.chr1:145699056T>G	ENST00000369288.2	-	5	652	c.435A>C	c.(433-435)caA>caC	p.Q145H	CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000369290.1_Missense_Mutation_p.Q36H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H	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		Somatic				CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H	p.Q36H			WXS	Illumina GAIIx	Phase_I	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	15	71	---	---	---	---	G	145699056	T	G	145699056	3	3	256	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	100403710	145699056	103551565	3	9973										
HMCN1	83872	broad.mit.edu	37	chr1	186056778	186056778	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	tacacattaagaaagctgagGtgcatcttttattcttgttt	7	6	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.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			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	24	64	---	---	---	---	A	186056778	G	A	186056778	5	1	256	1	0	0	0	0	0	0	1	0	7220	1275	44	2	9602	2	HMCN1	1	186056778	Splice_Site	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08	40357722	186056778	63193843	4	9974										
URB2	9816	broad.mit.edu	37	chr1	229773318	229773318	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	agagctagtagtaggttcctTattgagatggatgatcccgc	12	7	0	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.chr1:229773318T>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			Somatic					p.L986L	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	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	14	125	---	---	---	---	A	229773318	T	A	229773318	2	1	256	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	5	9975										
DNAH7	56171	broad.mit.edu	37	chr2	196852857	196852857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	gtgctcagtaggtgccacacTctctttcataataacttcct	6	12	3	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.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		Somatic					p.S484C	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	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	4	80	---	---	---	---	A	196852857	T	A	196852857	3	1	256	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		196852857	46346516	6	9976										
SLITRK3	22865	broad.mit.edu	37	chr3	164907134	164907134	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	aggctgaaggctgcaggctgGatttcccggatgacattgaa	14	8	0	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.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)	Somatic				SLITRK3_ENST00000241274.3_Silent_p.I495I	p.I495I			WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	A	164907134	G	A	164907134	2	1	256	1	0	0	0	0	0	0	0	1	14744	1164	41	2		2	SLITRK3	3	164907134	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		164907134	33115296	7	9977										
LPHN3	23284	broad.mit.edu	37	chr4	62813885	62813885	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	caagcgtacaatgacaggttAttggtcaacacaaggctgtc	10	9	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.chr4:62813885A>T	ENST00000514591.1	+	16	2821	c.2492A>T	c.(2491-2493)tAt>tTt	p.Y831F	LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y831F|LPHN3_ENST00000514996.1_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																																						ENST00000512091.2																			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		Somatic				LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_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_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F	p.Y831F			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			16	3239	+						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	3	38	---	---	---	---	T	62813885	A	T	62813885	3	4	256	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	8	9978										
BANK1	55024	broad.mit.edu	37	chr4	102981540	102981540	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	aaaagtggcctggaaatgatTcagcaggtaatattggccca	11	7	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.chr4:102981540T>G	ENST00000322953.4	+	12	2416	c.2142T>G	c.(2140-2142)atT>atG	p.I714M	BANK1_ENST00000508653.1_Missense_Mutation_p.I581M|BANK1_ENST00000504592.1_Missense_Mutation_p.I699M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000444316.2_Missense_Mutation_p.I684M	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		Somatic				BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M	p.I699M			WXS	Illumina GAIIx	Phase_I	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	13	47	---	---	---	---	G	102981540	T	G	102981540	3	3	256	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	9	9979										
KIAA1109	84162	broad.mit.edu	37	chr4	123249427	123249427	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	agggccgacgggatgacagtTtgtcttctaccagtgaagat	13	8	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		Somatic				KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V	p.L3722V			WXS	Illumina GAIIx	Phase_I	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	4	79	---	---	---	---	G	123249427	T	G	123249427	3	3	256	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	10	9980										
PCDHA1	56147	broad.mit.edu	37	chr5	140167805	140167805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	tggacgaggctgacttgtcgCgctaccgccttctggtgcta	13	12	1	1	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	56147							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		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	p.R644C	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			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	13	61	---	---	---	---	T	140167805	C	T	140167805	3	4	256	1	0	0	0	0	1	0	0	0	11519	768	27	2	1932	2	PCDHA1	5	140167805	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		140167805	40747455	11	9981										
BYSL	705	broad.mit.edu	37	chr6	41889339	41889339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	gcccgtggggtggggggtcaGgaaaaacatgcgcccctggc	18	11	1	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_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank|MED20_ENST00000409312.1_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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	7	24	---	---	---	---	A	41889339	G	A	41889339	2	1	256	1	0	0	0	0	0	0	0	1	1576	991	35	2		2	BYSL	6	41889339	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		41889339	129225728	12	9982										
IQUB	154865	broad.mit.edu	37	chr7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	atgttgcggagtatatgaaaCttgtcttggtgatataacct	10	5	1	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.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	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		Somatic				IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	p.V88F	NM_001282855.1	NP_001269784.1	WXS	Illumina GAIIx	Phase_I	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	11	147	---	---	---	---	A	123152133	C	A	123152133	3	1	256	1	0	0	0	0	1	0	0	0	7820	565	20	3	2161	3	IQUB	7	123152133	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		123152133	35986530	13	9983										
NUMA1	4926	broad.mit.edu	37	chr11	71719830	71719830	+	Frame_Shift_Del	DEL	A	A	-													0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	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_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	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)ttafs		nuclear mitotic apparatus protein 1							78	81	80					11																	71719830		2200	4293	6493	SO:0001589	frameshift_variant	4926				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		Somatic				NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	p.L1707fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	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	256	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	14	9984										
CCDC82	79780	broad.mit.edu	37	chr11	96117466	96117466	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	cttgacttaaatgtttttccTgatcatcctctattatttgt	4	8	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.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		Somatic				CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P	p.Q149P			WXS	Illumina GAIIx	Phase_I	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	14	118	---	---	---	---	G	96117466	T	G	96117466	3	3	256	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	15	9985										
CASC1	55259	broad.mit.edu	37	chr12	25274826	25274826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	aatctggcttttcagaagaaTtctctaccagcaacaactgt	6	10	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.chr12:25274826T>C	ENST00000320267.9	-	10	1163	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S|CASC1_ENST00000354189.5_Missense_Mutation_p.N425S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S	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		Somatic				CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S	p.N425S	NM_001082972.1	NP_001076441.1	WXS	Illumina GAIIx	Phase_I	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	24	134	---	---	---	---	C	25274826	T	C	25274826	3	2	256	1	0	0	0	0	1	0	0	0	2660	1493	52	2	1092	2	CASC1	12	25274826	Missense_Mutation	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		25274826	108577069	16	9986										
FAM123A	219287	broad.mit.edu	37	chr13	25743973	25743973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	aagctgcctggtgttcgcagTggacaggtgatggtgcctgg	17	8	0	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-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000357816.2_Silent_p.P476P			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			Somatic				AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000515384.1_Silent_p.P595P	p.P476P			WXS	Illumina GAIIx	Phase_I					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	4	88	---	---	---	---	C	25743973	T	C	25743973	2	2	256	1	0	0	0	0	0	0	0	1	5422	1683	59	2		2	FAM123A	13	25743973	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		25743973	89425905	17	9987										
EML5	161436	broad.mit.edu	37	chr14	89148373	89148373	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	cacacctctccttccatgtgTccctataaagaaaacatagg	5	13	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.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			Somatic				EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G	p.G995G	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	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	9	72	---	---	---	---	C	89148373	T	C	89148373	2	2	256	1	0	0	0	0	0	0	0	1	5100	1654	58	2		2	EML5	14	89148373	Silent	SNP	T	TCGA-KK-A8IJ-01A-11D-A34U-08		89148373	18201167	18	9988										
RYR3	6263	broad.mit.edu	37	chr15	33954430	33954430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	acacgctgaggctctacagcGcggtgtgcgccctgggaaac	14	13	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.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		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	p.A1567T	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	3	12	---	---	---	---	A	33954430	G	A	33954430	3	1	256	1	0	0	0	0	1	0	0	0	13770	1087	38	2	4837	2	RYR3	15	33954430	Missense_Mutation	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		33954430	68576962	19	9989										
NARG2	79664	broad.mit.edu	37	chr15	60741602	60741602	+	Frame_Shift_Del	DEL	T	T	-													0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	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)attfs		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		Somatic				NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	p.I522fs	NM_024611.4	NP_078887.2	WXS	Illumina GAIIx	Phase_I	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	256	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	20	9990										
FTO	79068	broad.mit.edu	37	chr16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	ggttctgtctcaacagtgctCaacaggaaccttggattata	9	9	3	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.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*		Somatic				FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	p.S327*	NM_001080432.2	NP_001073901.1	WXS	Illumina GAIIx	Phase_I	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	3	79	---	---	---	---	G	53913760	C	G	53913760	4	3	256	1	0	0	0	0	0	1	0	0	6086	838	29	4	1002	4	FTO	16	53913760	Nonsense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		53913760	36440993	21	9991										
SMURF2	64750	broad.mit.edu	37	chr17	62589625	62589625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	caaccgagaaatccagcaccTtgtttcttatggatcttctt	6	11	3	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.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		Somatic				SMURF2_ENST00000578200.1_Intron	p.Q89H	NM_022739.3	NP_073576.1	WXS	Illumina GAIIx	Phase_I	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	14	75	---	---	---	---	G	62589625	T	G	62589625	3	3	256	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	22	9992										
ZNF823	55552	broad.mit.edu	37	chr19	11832823	11832823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	cttttaagttactgaaatgaCtgaaggcttttctacatgtt	7	6	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.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)	Somatic				ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	p.S509I	NM_001080493.2	NP_001073962.1	WXS	Illumina GAIIx	Phase_I	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	9	76	---	---	---	---	A	11832823	C	A	11832823	3	1	256	1	0	0	0	0	1	0	0	0	18176	565	20	3	310	3	ZNF823	19	11832823	Missense_Mutation	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08		11832823	47296160	23	9993										
SFRS14	10147	broad.mit.edu	37	chr19	19115404	19115404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	attgatggacatagttcaaaCactttctttcgatagaattt	6	6	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.chr19:19115404C>T	ENST00000601879.1	-	7	2799	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V			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			Somatic				SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V	p.V834V			WXS	Illumina GAIIx	Phase_I	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	24	58	---	---	---	---	T	19115404	C	T	19115404	2	4	256	1	0	0	0	0	0	0	0	1	14170	465	17	2		2	SFRS14	19	19115404	Silent	SNP	C	TCGA-KK-A8IJ-01A-11D-A34U-08	7282581	19115404	40013579	24	9994										
ZNF615	284370	broad.mit.edu	37	chr19	52496378	52496378	+	Frame_Shift_Del	DEL	A	A	-													0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	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_ENST00000598071.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs			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)tccfs		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		Somatic				ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs	p.S651fs			WXS	Illumina GAIIx	Phase_I	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	256	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	25	9995										
NLRP4	147945	broad.mit.edu	37	chr19	56369968	56369968	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	aaggccctgtgctccctggcTgcagagggtatgtggacaga	15	10	0	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.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			Somatic				NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A	p.A403A	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	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	5	63	---	---	---	---	A	56369968	T	A	56369968	2	1	256	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	26	9996										
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145297	3145297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	gtactcgatcaccttctcctTctcctccagccacacgcggc	6	19	3	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.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	9762							g.chr20:3145297T>G																												ENST00000329152.3:c.1825A>C	20.37:g.3145297T>G	ENSP00000332123:p.Lys609Gln		Somatic				LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q	p.K609Q			WXS	Illumina GAIIx	Phase_I					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	10	14	---	---	---	---	G	3145297	T	G	3145297	3	3	256	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	27	9997										
TMPRSS6	164656	broad.mit.edu	37	chr22	37485725	37485725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.815789473684211	6.52631578947368	0	1	1	0	agtttgagcatgaggtccttGgggccctgcaggtgccacag	15	10	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_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P|TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000381792.2_Silent_p.P243P	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			Somatic				TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P	p.P243P			WXS	Illumina GAIIx	Phase_I	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	3	10	---	---	---	---	A	37485725	G	A	37485725	2	1	256	1	0	0	0	0	0	0	0	1	16248	1335	47	2		2	TMPRSS6	22	37485725	Silent	SNP	G	TCGA-KK-A8IJ-01A-11D-A34U-08		37485725	13818841	28	9998										
EPHB2	2048	broad.mit.edu	37	chr1	23111211	23111211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	gagagcttctcccaggtggaCctgggtggccgcgtcatgaa	15	11	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.chr1:23111211C>T	ENST00000400191.3	+	3	471	c.453C>T	c.(451-453)gaC>gaT	p.D151D	EPHB2_ENST00000374630.3_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|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			Somatic				EPHB2_ENST00000544305.1_Silent_p.D151D|EPHB2_ENST00000374632.3_Silent_p.D151D|EPHB2_ENST00000374627.1_Silent_p.D145D|EPHB2_ENST00000374630.3_Silent_p.D151D	p.D151D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	WXS	Illumina GAIIx	Phase_I	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	12	11	---	---	---	---	T	23111211	C	T	23111211	2	4	257	1	0	0	0	0	0	0	0	1	5175	506	18	2		2	EPHB2	1	23111211	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		23111211	226139410	1	9999										
RPRD2	23248	broad.mit.edu	37	chr1	150444279	150444279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	tagcttgtctcaatctaccaCtgggcatctcagtttgccac	7	13	3	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.chr1:150444279C>G	ENST00000369068.4	+	11	2859	c.2855C>G	c.(2854-2856)aCt>aGt	p.T952S	RPRD2_ENST00000401000.4_Missense_Mutation_p.T926S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR	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		Somatic				RPRD2_ENST00000369068.4_Missense_Mutation_p.T952S|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR	p.T926S			WXS	Illumina GAIIx	Phase_I	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	128	134	---	---	---	---	G	150444279	C	G	150444279	3	3	257	1	0	0	0	0	1	0	0	0	13617	565	20	4	2897	4	RPRD2	1	150444279	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	127333068	150444279	98806342	2	10000										
GPR125	166647	broad.mit.edu	37	chr4	22389479	22389479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	tttgctgattttcaagttcaAccacagctggcttccttaac	6	11	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.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		Somatic				GPR125_ENST00000282943.5_5'UTR	p.V1272A	NM_145290.3	NP_660333.2	WXS	Illumina GAIIx	Phase_I	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	14	21	---	---	---	---	G	22389479	A	G	22389479	3	3	257	1	0	0	0	0	1	0	0	0	6639	43	2	2	154	2	GPR125	4	22389479	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08		22389479	168764797	3	10001										
PDE10A	10846	broad.mit.edu	37	chr6	165829699	165829699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	gttaaagcgtgggtctgcatAggcatctggaatgttcagga	14	6	3	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.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		Somatic				PDE10A_ENST00000539869.2_Missense_Mutation_p.Y357N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y347N	p.Y347N			WXS	Illumina GAIIx	Phase_I	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	48	66	---	---	---	---	T	165829699	A	T	165829699	3	4	257	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		165829699	5285368	4	10002										
ABCA13	154664	broad.mit.edu	37	chr7	48318265	48318265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	caagtgaagaaagtcacgtcCtgaaacccctcttagaaatg	8	10	2	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.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			Somatic					p.L2492L	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	6	205	---	---	---	---	T	48318265	C	T	48318265	2	4	257	1	0	0	0	0	0	0	0	1	31	680	24	2		2	ABCA13	7	48318265	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		48318265	110820398	5	10003										
ZNF398	57541	broad.mit.edu	37	chr7	148851149	148851149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	agctatctctctgtggacagTggtggccgccgtgcaggcta	14	11	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.chr7:148851149T>C	ENST00000475153.1	+	2	404	c.137T>C	c.(136-138)gTg>gCg	p.V46A	ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'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	57541				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		Somatic				ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.V51A|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR	p.V46A			WXS	Illumina GAIIx	Phase_I	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	37	23	---	---	---	---	C	148851149	T	C	148851149	3	2	257	1	0	0	0	0	1	0	0	0	17882	1696	59	2	143	2	ZNF398	7	148851149	Missense_Mutation	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08	100532884	148851149	10287514	6	10004										
PNOC	5368	broad.mit.edu	37	chr8	28186778	28186778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	ccaggagaagctccacccagCcctggacagcttcgacctgg	11	16	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.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		Somatic				RP11-380I10.4_ENST00000521731.1_RNA	p.A35D	NM_006228.3	NP_006219.1	WXS	Illumina GAIIx	Phase_I	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	3	23	---	---	---	---	A	28186778	C	A	28186778	3	1	257	1	0	0	0	0	1	0	0	0	12162	739	26	3	106	3	PNOC	8	28186778	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		28186778	118177244	7	10005										
PHF2	5253	broad.mit.edu	37	chr9	96420442	96420442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	cccaggctctcacaaatctgGgaagcagctgccccctcatc	8	17	3	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		Somatic				PHF2_ENST00000375376.4_Intron	p.G388A	NM_005392.3	NP_005383.3	WXS	Illumina GAIIx	Phase_I	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	19	19	---	---	---	---	C	96420442	G	C	96420442	3	2	257	1	0	0	0	0	1	0	0	0	11830	1232	43	4	1201	4	PHF2	9	96420442	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		96420442	44792989	8	10006										
FAM22A	728118	broad.mit.edu	37	chr10	88988143	88988143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	gccgctccttgtgactgcagGggctcctccaggcggccctc	13	17	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_ENST00000381689.4_Missense_Mutation_p.G169E|NUTM2A-AS1_ENST00000451940.2_RNA	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		Somatic				NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G169E	p.G169E			WXS	Illumina GAIIx	Phase_I					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	12	38	---	---	---	---	A	88988143	G	A	88988143	3	1	257	1	0	0	0	0	1	0	0	0	5543	1232	43	2	512	2	FAM22A	10	88988143	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		88988143	46546604	9	10007										
EXT2	2132	broad.mit.edu	37	chr11	44146380	44146380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	gtcatctcaggtgggtctccAtcctgagtacagagaggacc	12	11	3	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.chr11:44146380A>C	ENST00000343631.3	+	5	914	c.785A>C	c.(784-786)cAt>cCt	p.H262P	EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000395673.3_Missense_Mutation_p.H295P|EXT2_ENST00000358681.4_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		Somatic				EXT2_ENST00000343631.3_Missense_Mutation_p.H262P|EXT2_ENST00000533608.1_Missense_Mutation_p.H262P|EXT2_ENST00000358681.4_Missense_Mutation_p.H262P	p.H295P	NM_000401.3	NP_000392.3	WXS	Illumina GAIIx	Phase_I	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	14	2	---	---	---	---	C	44146380	A	C	44146380	3	2	257	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	10	10008										
C12orf10	60314	broad.mit.edu	37	chr12	53693739	53693739	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	cctcctgccggagtaccgggTacggtccgcgaaaagtgacc	13	14	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.chr12:53693739T>C	ENST00000267103.5	+	1	268		c.e1+2		C12orf10_ENST00000549488.1_5'Flank|RP11-680A11.5_ENST00000550263.1_RNA|C12orf10_ENST00000548632.1_Splice_Site	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			Somatic	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	WXS	Illumina GAIIx	Phase_I	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	13	15	---	---	---	---	C	53693739	T	C	53693739	5	2	257	1	0	0	0	0	0	0	1	0	1674	1652	57	2	220	2	C12orf10	12	53693739	Splice_Site	SNP	T	TCGA-KK-A8IK-01A-11D-A364-08		53693739	80158156	11	10009										
TCTN2	79867	broad.mit.edu	37	chr12	124163788	124163788	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	cagccccttggcccttgtccTtgtaatttaacagctggagc	9	13	0	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.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			Somatic				TCTN2_ENST00000426174.2_Silent_p.P171P	p.P172P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	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	39	4	---	---	---	---	G	124163788	T	G	124163788	2	3	257	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	12	10010										
FOXA1	3169	broad.mit.edu	37	chr14	38061200	38061202	+	In_Frame_Del	DEL	CTG	CTG	-													0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	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_ENST00000540786.1_In_Frame_Del_p.Q230del|FOXA1_ENST00000545425.2_5'UTR	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)cagdel		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		Somatic				FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.Q230del	p.Q263del	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	257	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		38061200	69288340	13	10011										
ISM2	145501	broad.mit.edu	37	chr14	77950790	77950790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	cattccctggggtcagggctGctggctcagtgacagtccaa	13	12	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.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		Somatic				ISM2_ENST00000493585.1_Missense_Mutation_p.A168V|ISM2_ENST00000342219.4_Missense_Mutation_p.A168V|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.A87V	p.A80V			WXS	Illumina GAIIx	Phase_I	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	28	39	---	---	---	---	A	77950790	G	A	77950790	3	1	257	1	0	0	0	0	1	0	0	0	7861	1319	46	2	1232	2	ISM2	14	77950790	Missense_Mutation	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08	39889590	77950790	29398750	14	10012										
BLM	641	broad.mit.edu	37	chr15	91346839	91346839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	gaaagactttttaaaaagctGatacttgacaagattttgga	8	4	0	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.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			Somatic				BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR	p.L1149L	NM_000057.2	NP_000048.1	WXS	Illumina GAIIx	Phase_I	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	21	71	---	---	---	---	A	91346839	G	A	91346839	2	1	257	1	0	0	0	0	0	0	0	1	1445	1277	45	2		2	BLM	15	91346839	Silent	SNP	G	TCGA-KK-A8IK-01A-11D-A364-08		91346839	11184553	15	10013										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	3	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.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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	39	62	---	---	---	---	C	47696426	A	C	47696426	3	2	257	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	16	10014										
CACNA1A	773	broad.mit.edu	37	chr19	13323529	13323529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	ttggggacgggggctccatgCgctggaacatgaggggtgtc	19	8	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	8	4	---	---	---	---	T	13323529	C	T	13323529	3	4	257	1	0	0	0	0	1	0	0	0	2538	768	27	2	1582	2	CACNA1A	19	13323529	Missense_Mutation	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08		13323529	45805454	17	10015										
ZNF230	7773	broad.mit.edu	37	chr19	44515050	44515050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	tcaaatgtgaaatatgtggtAagagcttctgccttaggtca	10	6	3	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.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		Somatic					p.K287E	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	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	54	63	---	---	---	---	G	44515050	A	G	44515050	3	3	257	1	0	0	0	0	1	0	0	0	17781	363	13	2	873	2	ZNF230	19	44515050	Missense_Mutation	SNP	A	TCGA-KK-A8IK-01A-11D-A364-08	31191521	44515050	14613933	18	10016										
CDH22	64405	broad.mit.edu	37	chr20	44869670	44869670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	agcggggctcactgtcattgAtgtcctgcaccttgatgatg	12	10	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.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		Somatic				CDH22_ENST00000537909.1_Missense_Mutation_p.I161S	p.I161S	NM_021248.1	NP_067071.1	WXS	Illumina GAIIx	Phase_I	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	14	74	---	---	---	---	C	44869670	A	C	44869670	3	2	257	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	19	10017										
GTPBP5	26164	broad.mit.edu	37	chr20	60775813	60775813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	ccgccttcctcaggcacatcGagcgctgccgctttctcttg	9	17	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.chr20:60775813G>A	ENST00000370823.3	+	7	919	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MTG2_ENST00000436421.2_Missense_Mutation_p.E143K|MTG2_ENST00000536470.1_Missense_Mutation_p.E73K	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		Somatic				MTG2_ENST00000536470.1_Missense_Mutation_p.E73K|MTG2_ENST00000436421.2_Missense_Mutation_p.E143K	p.E301K	NM_015666.3	NP_056481.1	WXS	Illumina GAIIx	Phase_I					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	119	195	---	---	---	---	A	60775813	G	A	60775813	3	1	257	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	20	10018										
TLR8	51311	broad.mit.edu	37	chrX	12939904	12939904	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	cgagacaaaaacgttctcctTtgtctagaggagagggattg	12	7	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: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			Somatic				TLR8_ENST00000311912.5_Silent_p.L933L	p.L915L	NM_138636.4	NP_619542.1	WXS	Illumina GAIIx	Phase_I	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	50	2	---	---	---	---	G	12939904	T	G	12939904	2	3	257	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	21	10019										
MAOA	4128	broad.mit.edu	37	chrX	43591988	43591988	+	Frame_Shift_Del	DEL	T	T	-													0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	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)attfs		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		Somatic				MAOA_ENST00000542639.1_Frame_Shift_Del_p.I200fs	p.I333fs	NM_000240.3	NP_000231.1	WXS	Illumina GAIIx	Phase_I	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	257	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	22	10020										
PASD1	139135	broad.mit.edu	37	chrX	150791530	150791530	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0434782608695652	1	1	0.7296875	0	0.912109375	1	1	0	tgcattctcaggactcagctCctgcaggtgggtatactgtg	12	10	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.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			Somatic					p.L180L	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	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	5	47	---	---	---	---	T	150791530	C	T	150791530	2	4	257	1	0	0	0	0	0	0	0	1	11471	842	30	2		2	PASD1	23	150791530	Silent	SNP	C	TCGA-KK-A8IK-01A-11D-A364-08	107199542	150791530	4479030	23	10021										
PYHIN1	149628	broad.mit.edu	37	chr1	158913599	158913599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	gaaaattgtaaataggaagaCgacaatctatgaaattcagg	9	4	2	2	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_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T332M	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		Somatic				PYHIN1_ENST00000392254.2_Missense_Mutation_p.T341M|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T332M|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	WXS	Illumina GAIIx	Phase_I	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	8	28	---	---	---	---	T	158913599	C	T	158913599	3	4	258	1	0	0	0	0	1	0	0	0	12865	536	19	2	1040	2	PYHIN1	1	158913599	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		158913599	90337022	1	10022										
HMCN1	83872	broad.mit.edu	37	chr1	186063456	186063456	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	gctgtgtatacttgtgtggcCtccaacagagctggggtgga	15	8	0	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.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			Somatic				HMCN1_ENST00000367492.2_Silent_p.A3415A	p.A3415A	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	8	29	---	---	---	---	A	186063456	C	A	186063456	2	1	258	1	0	0	0	0	0	0	0	1	7220	668	24	1		1	HMCN1	1	186063456	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	27149857	186063456	63187165	2	10023										
DGUOK	1716	broad.mit.edu	37	chr2	74154094	74154094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	gcacccttcagttccatggcCaagagcccactcgagggcgt	11	15	1	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.chr2:74154094C>T	ENST00000264093.4	+	1	142	c.57C>T	c.(55-57)gcC>gcT	p.A19A	DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000348222.1_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			Somatic				DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Silent_p.A19A|DGUOK_ENST00000348222.1_Silent_p.A19A	p.A19A	NM_080916.2	NP_550438.1	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	T	74154094	C	T	74154094	2	4	258	1	0	0	0	0	0	0	0	1	4475	581	21	2		2	DGUOK	2	74154094	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		74154094	169045279	3	10024										
NCKAP5	344148	broad.mit.edu	37	chr2	133538654	133538654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ttttggtacttccatatcggCtttgattttcatgtttttct	6	7	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.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		Somatic				NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1674S	p.A1674S	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	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	4	16	---	---	---	---	A	133538654	C	A	133538654	3	1	258	1	0	0	0	0	1	0	0	0	10223	797	28	3	733	3	NCKAP5	2	133538654	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	59384560	133538654	109660719	4	10025			1	20		2	2	101	N	C_A	9.367467e-05
NCKAP5	344148	broad.mit.edu	37	chr2	133538754	133538754	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tttaacacattcctgcaggaAgcattacttgatccactttc	5	11	0	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.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			Somatic				NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1640A	p.A1640A	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	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	8	35	---	---	---	---	G	133538754	A	G	133538754	2	3	258	1	0	0	0	0	0	0	0	1	10223	59	3	2		2	NCKAP5	2	133538754	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	100	133538754	109660619	5	10026			1	20		2	2	101	N	C_A	9.367467e-05
SEPT2	4735	broad.mit.edu	37	chr2	242289493	242289493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tgtgtgtgttcacagctccgCcgcatgcaagagatgattgc	12	10	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	AC005104.3_ENST00000414896.1_RNA|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000407971.1_Silent_p.R290R|SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000402092.2_Silent_p.R330R	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			Somatic				SEPT2_ENST00000360051.3_Silent_p.R330R|SEPT2_ENST00000401990.1_Silent_p.R340R|SEPT2_ENST00000402092.2_Silent_p.R330R|SEPT2_ENST00000391971.2_Silent_p.R330R|SEPT2_ENST00000407971.1_Silent_p.R290R	p.R330R	NM_006155.1	NP_006146.1	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	T	242289493	C	T	242289493	2	4	258	1	0	0	0	0	0	0	0	1	14064	726	26	2		2	SEPT2	2	242289493	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	108750739	242289493	909880	6	10027										
KCNH8	131096	broad.mit.edu	37	chr3	19498330	19498330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	aagaccaatgcagatgtaaaGgctttaacctactgtgatct	8	8	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.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		Somatic					p.K632N	NM_144633.2	NP_653234.2	WXS	Illumina GAIIx	Phase_I	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	24	41	---	---	---	---	T	19498330	G	T	19498330	3	4	258	1	0	0	0	0	1	0	0	0	8038	991	35	1	1938	1	KCNH8	3	19498330	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		19498330	178524100	7	10028										
PNRC1	10957	broad.mit.edu	37	chr6	89793533	89793533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tccccatggccagcttgttcAtggtatacacttgtatgagc	9	11	1	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.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)	Somatic				PNRC1_ENST00000369472.1_Missense_Mutation_p.H16R|PNRC1_ENST00000354922.3_Missense_Mutation_p.H16R	p.H201R	NM_006813.2	NP_006804.1	WXS	Illumina GAIIx	Phase_I	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	20	45	---	---	---	---	G	89793533	A	G	89793533	3	3	258	1	0	0	0	0	1	0	0	0	12174	217	8	2	608	2	PNRC1	6	89793533	Missense_Mutation	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		89793533	81321534	8	10029										
ZNF804B	219578	broad.mit.edu	37	chr7	88963984	88963984	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	cagtgattctgagccaaataAgagtgaatatactttcagtg	9	6	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.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)	Somatic					p.K563T	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	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	14	43	---	---	---	---	C	88963984	A	C	88963984	3	2	258	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	9	10030										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519341	113519341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	gcgctgccttcactagtcaaAtgatgatgctctggggttaa	11	9	3	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.chr7:113519341A>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			Somatic					p.H602H	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	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	6	104	---	---	---	---	G	113519341	A	G	113519341	2	3	258	1	0	0	0	0	0	0	0	1	12371	98	4	2		2	PPP1R3A	7	113519341	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	24555357	113519341	45619322	10	10031										
MLL3	58508	broad.mit.edu	37	chr7	151845543	151845555	+	Frame_Shift_Del	DEL	TTAATGGCGCAAG	TTAATGGCGCAAG	-													0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	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)acttgcgccattaaafs		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		Somatic				KMT2C_ENST00000262189.6_Frame_Shift_Del_p.TCAIK4486fs	p.TCAIK4543fs			WXS	Illumina GAIIx	Phase_I					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	258	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	38326202	151845543	7293120	11	10032										
RP1L1	94137	broad.mit.edu	37	chr8	10468857	10468857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tcggacagcccccgagacccCgcaccctggctggcactgct	11	19	0	1	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			Somatic					p.A917A	NM_178857.5	NP_849188.4	WXS	Illumina GAIIx	Phase_I	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	3	17	---	---	---	---	T	10468857	C	T	10468857	2	4	258	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	12	10033										
CA2	760	broad.mit.edu	37	chr8	86386565	86386565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ggccttagcttcacttggttCactggaacaccaaatatggg	10	10	2	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.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		Somatic					p.H122Y	NM_000067.2	NP_000058.1	WXS	Illumina GAIIx	Phase_I	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	25	56	---	---	---	---	T	86386565	C	T	86386565	3	4	258	1	0	0	0	0	1	0	0	0	2516	826	29	2	378	2	CA2	8	86386565	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	75917708	86386565	59977457	13	10034										
MCM10	55388	broad.mit.edu	37	chr10	13240783	13240783	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	aaaatcctaaaagcaaaatcAaaacacacaggcatcctgaa	4	10	1	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_ENST00000378694.1_Silent_p.S738S|MCM10_ENST00000378714.3_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			Somatic				MCM10_ENST00000484800.2_Silent_p.S739S|MCM10_ENST00000378714.3_Silent_p.S738S	p.S738S			WXS	Illumina GAIIx	Phase_I	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	12	28	---	---	---	---	G	13240783	A	G	13240783	2	3	258	1	0	0	0	0	0	0	0	1	9385	117	5	2		2	MCM10	10	13240783	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		13240783	122293964	14	10035										
CUBN	8029	broad.mit.edu	37	chr10	16946102	16946102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	aaagtctccacatcaggggcCcatcagcatcacctgaacaa	7	14	4	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.chr10:16946102C>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		Somatic					p.G2642E	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	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	16	39	---	---	---	---	T	16946102	C	T	16946102	3	4	258	1	0	0	0	0	1	0	0	0	4051	623	22	2	3014	2	CUBN	10	16946102	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	3705319	16946102	118588645	15	10036										
MMRN2	79812	broad.mit.edu	37	chr10	88702686	88702686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ctgctcagacatctcctccaGcacctcctccccgaagagcg	7	19	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.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																																						ENST00000372027.5																			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		Somatic					p.L619V	NM_024756.2	NP_079032.2	WXS	Illumina GAIIx	Phase_I	Q9H8L6	MMRN2_HUMAN			6	2176	-								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	3	12	---	---	---	---	C	88702686	G	C	88702686	3	2	258	1	0	0	0	0	1	0	0	0	9671	962	34	4	1002	4	MMRN2	10	88702686	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08	71756584	88702686	46832061	16	10037										
ACCS	84680	broad.mit.edu	37	chr11	44092838	44092838	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ttgggcaccagtgagaacaaActctgctttgacctgctgtc	10	11	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.chr11:44092838A>G	ENST00000263776.8	+	3	755	c.321A>G	c.(319-321)aaA>aaG	p.K107K	ACCS_ENST00000533208.1_3'UTR|CTD-2609K8.3_ENST00000531268.1_RNA|ACCS_ENST00000432284.2_Silent_p.K107K	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			Somatic				ACCS_ENST00000432284.2_Silent_p.K107K|ACCS_ENST00000533208.1_3'UTR	p.K107K	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	WXS	Illumina GAIIx	Phase_I	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	4	81	---	---	---	---	G	44092838	A	G	44092838	2	3	258	1	0	0	0	0	0	0	0	1	133	40	2	2		2	ACCS	11	44092838	Silent	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08		44092838	90913678	17	10038										
ZBTB44	29068	broad.mit.edu	37	chr11	130109742	130109742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ggaggagcattagtgctagaCgtgctttgaagtgtaggcaa	15	5	0	2	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_ENST00000397753.1_Silent_p.T356T|ZBTB44_ENST00000530205.1_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			Somatic				ZBTB44_ENST00000357899.4_Silent_p.T356T|ZBTB44_ENST00000530205.1_Silent_p.T356T|ZBTB44_ENST00000397753.1_Silent_p.T356T	p.T356T	NM_014155.4	NP_054874.3	WXS	Illumina GAIIx	Phase_I	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	3	15	---	---	---	---	T	130109742	C	T	130109742	2	4	258	1	0	0	0	0	0	0	0	1	17542	523	19	2		2	ZBTB44	11	130109742	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	86016904	130109742	4896774	18	10039										
KRT78	196374	broad.mit.edu	37	chr12	53242526	53242526	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ctccactccccaaaccgcacCcccagcctaccccctgaccc	3	26	0	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			Somatic					p.G63G	NM_173352.2	NP_775487.2	WXS	Illumina GAIIx	Phase_I	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	6	11	---	---	---	---	A	53242526	C	A	53242526	2	1	258	1	0	0	0	0	0	0	0	1	8491	610	22	1		1	KRT78	12	53242526	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		53242526	80609369	19	10040										
RIMBP2	23504	broad.mit.edu	37	chr12	130897244	130897244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tctcctcatcatctgcttgtAtctcagagaccatgttacaa	5	12	5	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.chr12:130897244A>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		Somatic					p.I914T	NM_015347.4	NP_056162.4	WXS	Illumina GAIIx	Phase_I	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	4	45	---	---	---	---	G	130897244	A	G	130897244	3	3	258	1	0	0	0	0	1	0	0	0	13363	449	16	2	437	2	RIMBP2	12	130897244	Missense_Mutation	SNP	A	TCGA-KK-A8IL-01A-11D-A364-08	77654718	130897244	2954651	20	10041										
NALCN	259232	broad.mit.edu	37	chr13	101944385	101944385	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	gctgcttctcgatccccacaTttgttgaaactgtactctga	7	12	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.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		Somatic				NALCN_ENST00000376196.3_Missense_Mutation_p.M335L|NALCN_ENST00000470333.1_5'UTR	p.M335L	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	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	9	34	---	---	---	---	A	101944385	T	A	101944385	3	1	258	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	21	10042										
CCNB1IP1	57820	broad.mit.edu	37	chr14	20781932	20781932	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	cctcagccttgctgaaattgTattcttgatagagacgttcc	8	10	2	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.chr14:20781932T>C	ENST00000398169.3	-	6	942	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_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		Somatic				CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.Y109C|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.Y109C	p.Y109C			WXS	Illumina GAIIx	Phase_I	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	13	38	---	---	---	---	C	20781932	T	C	20781932	3	2	258	1	0	0	0	0	1	0	0	0	2912	1638	57	2	515	2	CCNB1IP1	14	20781932	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08		20781932	86567608	22	10043										
SNRPA1	6627	broad.mit.edu	37	chr15	101832175	101832175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tgtgcaacttaccagttccaCgagactattattggtgagaa	9	8	0	2	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		Somatic				SNRPA1_ENST00000560856.1_5'UTR	p.V101M	NM_003090.2	NP_003081.2	WXS	Illumina GAIIx	Phase_I	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	48	128	---	---	---	---	T	101832175	C	T	101832175	3	4	258	1	0	0	0	0	1	0	0	0	14860	536	19	2	494	2	SNRPA1	15	101832175	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		101832175	699217	23	10044										
NPIP	9284	broad.mit.edu	37	chr16	15045869	15045869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	ccaccctcagcggatgataaTctcaagaaactaaggaagaa	8	10	2	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.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		Somatic				NPIPA1_ENST00000472413.1_3'UTR	p.I347T	NM_006985.2	NP_008916.2	WXS	Illumina GAIIx	Phase_I					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	7	66	---	---	---	---	C	15045869	T	C	15045869	3	2	258	1	0	0	0	0	1	0	0	0	10584	1435	50	2	1070	2	NPIP	16	15045869	Missense_Mutation	SNP	T	TCGA-KK-A8IL-01A-11D-A364-08		15045869	75308884	24	10045										
PIH1D1	55011	broad.mit.edu	37	chr19	49949879	49949879	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	cgggatataagcgtctagatGatacagctgctgggggcccc	14	10	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.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		Somatic				PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.H254Y	p.H254Y	NM_017916.2	NP_060386.1	WXS	Illumina GAIIx	Phase_I	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	33	75	---	---	---	---	A	49949879	G	A	49949879	3	1	258	1	0	0	0	0	1	0	0	0	11906	1290	45	2	120	2	PIH1D1	19	49949879	Missense_Mutation	SNP	G	TCGA-KK-A8IL-01A-11D-A364-08		49949879	9179104	25	10046										
KIR3DL1	3811	broad.mit.edu	37	chr19	55340907	55340907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tttctccttcatctctggtgCtccaacaaaaaaagtaagtc	5	11	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.chr19:55340907C>T	ENST00000391728.4	+	7	1125	c.1092C>T	c.(1090-1092)tgC>tgT	p.C364C	KIR3DL1_ENST00000538269.1_Silent_p.C364C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron	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			Somatic				KIR3DL1_ENST00000358178.4_Silent_p.C269C|KIR3DL1_ENST00000326542.7_Silent_p.C347C|KIR3DL1_ENST00000541392.1_Silent_p.C347C|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.C364C	p.C364C	NM_013289.2	NP_037421.2	WXS	Illumina GAIIx	Phase_I				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	6	47	---	---	---	---	T	55340907	C	T	55340907	2	4	258	1	0	0	0	0	0	0	0	1	8320	805	28	2		2	KIR3DL1	19	55340907	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08	5391028	55340907	3788076	26	10047										
PLCB4	5332	broad.mit.edu	37	chr20	9365016	9365016	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	cagacagttcggcgggaagtCttcggtagaaatgtacagac	13	8	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.chr20:9365016C>A	ENST00000378493.1	+	11	1037	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000378501.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_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		Somatic				PLCB4_ENST00000334005.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.S341Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.S341Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.S341Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.S341Y	p.S341Y	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	A	9365016	C	A	9365016	3	1	258	1	0	0	0	0	1	0	0	0	12030	913	32	3	1064	3	PLCB4	20	9365016	Missense_Mutation	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		9365016	53660504	27	10048										
KIF16B	55614	broad.mit.edu	37	chr20	16485058	16485059	+	Missense_Mutation	DNP	CA	CA	TG													0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	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.chr20:16485058_16485059CA>TG	ENST00000354981.2	-	10	1291_1292	c.1134_1135TG>CA	c.(1132-1137)gcTGaa>gcCAaa	p.E379K	KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR	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						CTGGCTATTTCAGCTCGCAGCT	0.411																																						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|c.(1132-1134)gcT>gcC		kinesin family member 16B																																				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|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.1134_1135delinsTG	20.37:g.16485058_16485059delinsTG	ENSP00000347076:p.Glu379Lys		Somatic				KIF16B_ENST00000408042.1_Missense_Mutation_p.E379K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E379K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.A378A|KIF16B_ENST00000355755.3_Silent_p.A378A|KIF16B_ENST00000378003.2_5'UTR	p.E379K|p.A378A	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			10	1292|1291	-			379|378					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|Silent	SNP	ENST00000354981.2	37	c.1135G>A|c.1134T>C	CCDS13122.1																																																																																				0.411	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		56	108|107	56	107	---	---	---	---	TG	16485059	CA	TG	16485058	3	4	258	1	0	0	0	0	1	0	0	0	8278	835	29	2	2886	2	KIF16B	20	16485058	Missense_Mutation	DNP	CA	TCGA-KK-A8IL-01A-11D-A364-08	7120042	16485058	46540462	28	10049										
DIP2A	23181	broad.mit.edu	37	chr21	47961679	47961679	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.103448275862069	3	1	1.54022988505747	0	1.68025078369906	0.142857142857143	1	0	tattttctaggccacctgatCtgggaggaccacctccaaga	9	12	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.chr21:47961679C>T	ENST00000417564.2	+	18	2068	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	DIP2A_ENST00000435722.3_Silent_p.L683L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000318711.7_Silent_p.L684L			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			Somatic				DIP2A_ENST00000417564.2_Silent_p.L683L|DIP2A_ENST00000466639.1_Silent_p.L640L|DIP2A_ENST00000427143.2_Silent_p.L619L|DIP2A_ENST00000400274.1_Silent_p.L679L|DIP2A_ENST00000457905.3_Silent_p.L683L|DIP2A_ENST00000435722.3_Silent_p.L683L	p.L684L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina GAIIx	Phase_I	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	4	34	---	---	---	---	T	47961679	C	T	47961679	2	4	258	1	0	0	0	0	0	0	0	1	4527	912	32	2		2	DIP2A	21	47961679	Silent	SNP	C	TCGA-KK-A8IL-01A-11D-A364-08		47961679	168216	29	10050										
NES	10763	broad.mit.edu	37	chr1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	tctctagattaccttcaagaGatttcattagttcttgattc	5	8	4	3	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		Somatic					p.S638Y	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	T	156642067	G	T	156642067	3	4	259	1	0	0	0	0	1	0	0	0	10337	942	33	3	2956	3	NES	1	156642067	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08		156642067	92608554	1	10051										
DNER	92737	broad.mit.edu	37	chr2	230272041	230272041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	gacgttagcgcagggatcctTgtacaattcacagtgtgttc	11	9	1	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.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		Somatic					p.K544Q	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	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	4	69	---	---	---	---	G	230272041	T	G	230272041	3	3	259	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		230272041	12927332	2	10052										
CCNL1	57018	broad.mit.edu	37	chr3	156866322	156866322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	ggctttcactgtgactgcggGacctgcttcttgatctcgag	12	11	3	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.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		Somatic				CCNL1_ENST00000461804.1_Intron	p.S430F	NM_020307.2	NP_064703.1	WXS	Illumina GAIIx	Phase_I	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	4	111	---	---	---	---	A	156866322	G	A	156866322	3	1	259	1	0	0	0	0	1	0	0	0	2931	1174	41	2	295	2	CCNL1	3	156866322	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08		156866322	41156108	3	10053										
MASP1	5648	broad.mit.edu	37	chr3	186954037	186954037	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	ggatgttgaagtctgggtggAgcaccactcgggcagctgag	17	8	1	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.chr3:186954037A>G	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000495249.1_5'UTR|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			Somatic				MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR	p.L541P	NM_139125.3	NP_624302.1	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	G	186954037	A	G	186954037	1	3	259	0	1	0	0	0	0	0	0	0	9322	304	11	2		2	MASP1	3	186954037	Intron	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08	30087715	186954037	11068393	4	10054										
DNAH5	1767	broad.mit.edu	37	chr5	13700934	13700934	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	atttggtgacttcattgcaaAgcaccatattgtccagagcc	8	10	1	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.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		Somatic					p.L4513R	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	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	20	136	---	---	---	---	C	13700934	A	C	13700934	3	2	259	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	5	10055										
SYNCRIP	10492	broad.mit.edu	37	chr6	86333756	86333756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	ttactcttaggaatagagccCacaaaaagcctattgttggc	8	9	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	70	---	---	---	---	A	86333756	C	A	86333756	2	1	259	1	0	0	0	0	0	0	0	1	15441	581	21	1		1	SYNCRIP	6	86333756	Silent	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		86333756	84781311	6	10056										
NPC1L1	29881	broad.mit.edu	37	chr7	44553094	44553094	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	aagttgctgatggcaccagcAcctttgatagaaccttcaaa	8	10	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.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			Somatic				NPC1L1_ENST00000546276.1_Silent_p.G1271G|NPC1L1_ENST00000381160.3_Silent_p.G1317G	p.G1344G	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	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	16	70	---	---	---	---	C	44553094	A	C	44553094	2	2	259	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	7	10057										
PCLO	27445	broad.mit.edu	37	chr7	82430883	82430883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	cctggctgttttacaggctcTtgtccattctgtcccatctt	7	13	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.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																																						ENST00000333891.9																			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			Somatic					p.Q4986Q	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			22	15295	-						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	4	70	---	---	---	---	C	82430883	T	C	82430883	2	2	259	1	0	0	0	0	0	0	0	1	11583	1606	56	2		2	PCLO	7	82430883	Silent	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08	37877789	82430883	76707780	8	10058										
RP1	6101	broad.mit.edu	37	chr8	55533943	55533943	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	attagcgcgcactcaccgccCcaccccgtagccgtcgctgc	9	20	1	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.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			Somatic					p.P139P	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	5	58	---	---	---	---	G	55533943	C	G	55533943	2	3	259	1	0	0	0	0	0	0	0	1	13532	610	22	4		4	RP1	8	55533943	Silent	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		55533943	90830079	9	10059										
DNAJB5	25822	broad.mit.edu	37	chr9	34993218	34993218	+	5'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	aacaaggagaccagtgctggTccagtggctgtgatgggaaa	15	7	0	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.chr9:34993218T>C	ENST00000541010.1	+	0	3000				DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_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			Somatic				DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G|DNAJB5_ENST00000541010.1_5'UTR	p.G68G	NM_001135005.2	NP_001128477.1	WXS	Illumina GAIIx	Phase_I	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	6	31	---	---	---	---	C	34993218	T	C	34993218	1	2	259	0	1	0	0	0	0	0	0	0	4623	1654	58	2		2	DNAJB5	9	34993218	5'UTR	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08		34993218	106220213	10	10060										
VAV2	7410	broad.mit.edu	37	chr9	136642579	136642579	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	tgacttcctggtttgtaccaGacgaccctggcagaggaaag	12	10	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.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		Somatic				VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V	p.L623V			WXS	Illumina GAIIx	Phase_I	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	15	88	---	---	---	---	C	136642579	G	C	136642579	3	2	259	1	0	0	0	0	1	0	0	0	17129	933	33	4	771	4	VAV2	9	136642579	Missense_Mutation	SNP	G	TCGA-M7-A71Y-01A-22D-A32B-08	101649361	136642579	4570852	11	10061										
OR6C76	390326	broad.mit.edu	37	chr12	55820588	55820588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	ctctgctcctttgctgcaaaTctcttgcacagacacaagta	6	13	2	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.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		Somatic					p.I184T	NM_001005183.1	NP_001005183.1	WXS	Illumina GAIIx	Phase_I	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	6	70	---	---	---	---	C	55820588	T	C	55820588	3	2	259	1	0	0	0	0	1	0	0	0	11200	1435	50	2	553	2	OR6C76	12	55820588	Missense_Mutation	SNP	T	TCGA-M7-A71Y-01A-22D-A32B-08		55820588	78031307	12	10062										
RSL1D1	26156	broad.mit.edu	37	chr16	11941663	11941663	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	cgaatactatgaggcaaggtCctacaaaatacgtgaaaaga	9	7	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.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.(244-246)ttG>ttT		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			Somatic				RSL1D1_ENST00000542106.1_5'UTR	p.L82F	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			3	318	-			82					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Splice_Site	SNP	ENST00000571133.1	37	c.246G>T	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	6	57	---	---	---	---	A	11941663	C	A	11941663	5	1	259	1	0	0	0	0	0	0	1	0	13700	869	30	3	1254	3	RSL1D1	16	11941663	Splice_Site	SNP	C	TCGA-M7-A71Y-01A-22D-A32B-08		11941663	78413090	13	10063										
C17orf57	124989	broad.mit.edu	37	chr17	45455257	45455257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	tccagaagattgtgacagacActagtagaaatggtgagaga	12	5	0	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.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		Somatic				EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A	p.T500A	NM_152347.4	NP_689560.3	WXS	Illumina GAIIx	Phase_I					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	3	55	---	---	---	---	G	45455257	A	G	45455257	3	3	259	1	0	0	0	0	1	0	0	0	1865	159	6	2	1536	2	C17orf57	17	45455257	Missense_Mutation	SNP	A	TCGA-M7-A71Y-01A-22D-A32B-08		45455257	35739953	14	10064										
ZNF347	84671	broad.mit.edu	37	chr19	53645401	53645401	+	Frame_Shift_Del	DEL	G	G	-													0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	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)cctfs		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		Somatic				ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs	p.P228fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	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	259	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		53645401	5483582	15	10065										
STX16	8675	broad.mit.edu	37	chr20	57251292	57251292	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	1.90196078431373	2.85294117647059	0	1	1	0	gatgcttgtgattttaatatTatttgtcatcatcattgtgc	7	5	3	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.chr20:57251292T>A	ENST00000371141.4	+	9	1647	c.923T>A	c.(922-924)tTa>tAa	p.L308*	STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*	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*		Somatic				STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291*	p.L308*	NM_001001433.2	NP_001001433.1	WXS	Illumina GAIIx	Phase_I	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	4	181	---	---	---	---	A	57251292	T	A	57251292	4	1	259	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	16	10066										
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924087	105924087	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	tcacccagccctccggggccCgccagcaggaactcctgtct	10	19	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.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			Somatic				TGFBRAP1_ENST00000258449.1_Silent_p.A224A	p.A224A			WXS	Illumina GAIIx	Phase_I	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	4	212	---	---	---	---	A	105924087	C	A	105924087	2	1	260	1	0	0	0	0	0	0	0	1	15821	639	23	1		1	TGFBRAP1	2	105924087	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		105924087	137275286	1	10067										
GPR17	2840	broad.mit.edu	37	chr2	128408704	128408704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	cagcgccgaccgtttcctggCcattgtgcacccggtcaagt	11	15	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.chr2:128408704C>T	ENST00000272644.3	+	3	553	c.479C>T	c.(478-480)gCc>gTc	p.A160V	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.A160V|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_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	2840					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		Somatic				LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.A160V|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron	p.A160V	NM_001161415.1	NP_001154887.1	WXS	Illumina GAIIx	Phase_I	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	5	160	---	---	---	---	T	128408704	C	T	128408704	3	4	260	1	0	0	0	0	1	0	0	0	6667	739	26	2	485	2	GPR17	2	128408704	Missense_Mutation	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	22484617	128408704	114790669	2	10068										
MAP4	4134	broad.mit.edu	37	chr3	47951176	47951176	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	gctctggtcttctactggcaCtccaggaaggaggtgacctt	12	11	3	1			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			Somatic				MAP4_ENST00000360240.6_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M|MAP4_ENST00000383737.4_Intron	p.V1596M			WXS	Illumina GAIIx	Phase_I	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	4	112	---	---	---	---	T	47951176	C	T	47951176	1	4	260	0	1	0	0	0	0	0	0	0	9258	565	20	2		2	MAP4	3	47951176	Intron	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		47951176	150071254	3	10069										
SLC9A10	285335	broad.mit.edu	37	chr3	111918172	111918172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	aaatattttgccttaccttaTtaattccagcaccttcagtt	3	10	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.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		Somatic				SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S	p.N840S	NM_183061.1	NP_898884.1	WXS	Illumina GAIIx	Phase_I	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	11	127	---	---	---	---	C	111918172	T	C	111918172	3	2	260	1	0	0	0	0	1	0	0	0	14710	1493	52	2	1054	2	SLC9A10	3	111918172	Missense_Mutation	SNP	T	TCGA-M7-A720-01A-12D-A32B-08	63966996	111918172	86104258	4	10070										
WASF1	8936	broad.mit.edu	37	chr6	110422901	110422901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	cttgtgatggaggagatggaGgcattaatggaacatgggga	17	3	0	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_ENST00000392588.1_Missense_Mutation_p.P471L|WASF1_ENST00000359451.2_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		Somatic				WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L	p.P471L	NM_003931.2	NP_003922.1	WXS	Illumina GAIIx	Phase_I	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	8	160	---	---	---	---	A	110422901	G	A	110422901	3	1	260	1	0	0	0	0	1	0	0	0	17249	1000	35	2	275	2	WASF1	6	110422901	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08		110422901	60692166	5	10071										
ASB15	142685	broad.mit.edu	37	chr7	123269330	123269330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	tcattcaatatgctctaaacGacgaggtaatgctgaggcta	9	8	3	1			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_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_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		Somatic				ASB15_ENST00000451215.1_Missense_Mutation_p.D428N|ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N	p.D428N			WXS	Illumina GAIIx	Phase_I	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	4	280	---	---	---	---	A	123269330	G	A	123269330	3	1	260	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		123269330	35869333	6	10072										
MORN4	118812	broad.mit.edu	37	chr10	99376044	99376044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	gcagtgagatttctggctgaCttggaggcgctctgggcccg	16	10	2	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|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	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			Somatic				PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000307450.6_Silent_p.K139K|MORN4_ENST00000478953.1_3'UTR	p.K197K			WXS	Illumina GAIIx	Phase_I	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	7	54	---	---	---	---	T	99376044	C	T	99376044	2	4	260	1	0	0	0	0	0	0	0	1	9710	564	20	2		2	MORN4	10	99376044	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		99376044	36158703	7	10073										
FEN1	2237	broad.mit.edu	37	chr11	61563274	61563274	+	Silent	SNP	C	C	T													0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	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			Somatic				FADS2_ENST00000574708.1_Intron	p.L147L	NM_004111.5	NP_004102.1	WXS	Illumina GAIIx	Phase_I	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	8	101	---	---	---	---	T	61563274	C	T	61563274	2	4	260	1	0	0	0	0	0	0	0	1	5812	813	29	2		2	FEN1	11	61563274	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		61563274	73443242	8	10074	19	2								
FEN1	2237	broad.mit.edu	37	chr11	61563280	61563280	+	Silent	SNP	C	C	A													0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	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			Somatic				FADS2_ENST00000574708.1_Intron	p.G149G	NM_004111.5	NP_004102.1	WXS	Illumina GAIIx	Phase_I	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	9	95	---	---	---	---	A	61563280	C	A	61563280	2	1	260	1	0	0	0	0	0	0	0	1	5812	697	25	3		3	FEN1	11	61563280	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08	6	61563280	73443236	9	10075	19	2								
OR5AU1	390445	broad.mit.edu	37	chr14	21624014	21624014	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	tcaaactccatcccttggctCaggtttgcccctttcatcct	5	16	3	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.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			Somatic					p.L57L	NM_001004731.1	NP_001004731.1	WXS	Illumina GAIIx	Phase_I	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	4	99	---	---	---	---	G	21624014	C	G	21624014	2	3	260	1	0	0	0	0	0	0	0	1	11147	813	29	4		4	OR5AU1	14	21624014	Silent	SNP	C	TCGA-M7-A720-01A-12D-A32B-08		21624014	85725526	10	10076										
AURKB	9212	broad.mit.edu	37	chr17	8110638	8110638	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	acacgtttccaaacttgcctTtgcccagaggacgcccaatc	7	15	0	1			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_ENST00000535053.1_Missense_Mutation_p.K86T|AURKB_ENST00000316199.6_Missense_Mutation_p.K86T|AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T	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		Somatic				AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000585124.1_Missense_Mutation_p.K85T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T	p.K86T	NM_001284526.1	NP_001271455.1	WXS	Illumina GAIIx	Phase_I	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	5	50	---	---	---	---	G	8110638	T	G	8110638	3	3	260	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		8110638	73084572	11	10077										
MEOX1	4222	broad.mit.edu	37	chr17	41720986	41720986	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	aggccgtcctctccttgcggGctttgctgctgccctccggc	12	17	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.chr17:41720986G>C	ENST00000318579.4	-	2	931	c.512C>G	c.(511-513)gCc>gGc	p.A171G	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G	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		Somatic				MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G|MEOX1_ENST00000329168.3_Intron	p.A171G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	WXS	Illumina GAIIx	Phase_I	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	4	24	---	---	---	---	C	41720986	G	C	41720986	3	2	260	1	0	0	0	0	1	0	0	0	9473	1203	42	4	260	4	MEOX1	17	41720986	Missense_Mutation	SNP	G	TCGA-M7-A720-01A-12D-A32B-08	33610348	41720986	39474224	12	10078										
TRIP10	9322	broad.mit.edu	37	chr19	6743220	6743221	+	Frame_Shift_Ins	INS	-	-	G													0.0833333333333333	1	1	1.40372670807453	4.91304347826087	0	1	1	0	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)cggfs		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		Somatic				TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000313244.9_Frame_Shift_Ins_p.R121fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.R121fs	p.R13fs			WXS	Illumina GAIIx	Phase_I	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	260	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	13	10079										
LCE2D	353141	broad.mit.edu	37	chr1	152636831	152636831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	ggccccgtctcttccaccggCgccggcaccagagccccgat	11	20	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.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		Somatic					p.R84C	NM_178430.2	NP_848517.1	WXS	Illumina GAIIx	Phase_I	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	86	8	86	---	---	---	---	T	152636831	C	T	152636831	3	4	261	1	0	0	0	0	1	0	0	0	8668	768	27	2	252	2	LCE2D	1	152636831	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		152636831	96613790	1	10080										
NFASC	23114	broad.mit.edu	37	chr1	204985658	204985658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	cctgtcaatgctatctactcTctggcctaacggagcccacc	7	16	3	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.chr1:204985658T>C	ENST00000401399.1	+	29	3913	c.3714T>C	c.(3712-3714)tcT>tcC	p.S1238S	NFASC_ENST00000367172.4_Silent_p.S1345S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Silent_p.S1238S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|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			Somatic				NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000339876.6_Silent_p.S1238S	p.S1345S			WXS	Illumina GAIIx	Phase_I	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	8	29	---	---	---	---	C	204985658	T	C	204985658	2	2	261	1	0	0	0	0	0	0	0	1	10359	1538	54	2		2	NFASC	1	204985658	Silent	SNP	T	TCGA-M7-A721-01A-12D-A32B-08	52348827	204985658	44264963	2	10081										
LY75	4065	broad.mit.edu	37	chr2	160737746	160737746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gcctatccacacttcttcttTgatatctaaaagaaaaatgt	4	9	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.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_ENST00000554112.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_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		Somatic				LY75_ENST00000554112.1_Missense_Mutation_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	p.K418E	NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				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	6	79	---	---	---	---	C	160737746	T	C	160737746	3	2	261	1	0	0	0	0	1	0	0	0	9099	1821	63	2	4028	2	LY75	2	160737746	Missense_Mutation	SNP	T	TCGA-M7-A721-01A-12D-A32B-08		160737746	82461627	3	10082										
ITGAV	3685	broad.mit.edu	37	chr2	187495563	187495563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	acagggattttgtcaaggagGattcagcattgattttacta	10	5	2	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.chr2:187495563G>A	ENST00000261023.3	+	5	837	c.563G>A	c.(562-564)gGa>gAa	p.G188E	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E	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		Somatic				ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E	p.G188E	NM_002210.3	NP_002201	WXS	Illumina GAIIx	Phase_I	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	16	169	---	---	---	---	A	187495563	G	A	187495563	3	1	261	1	0	0	0	0	1	0	0	0	7888	1174	41	2	632	2	ITGAV	2	187495563	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	26757817	187495563	55703810	4	10083										
HEMK1	51409	broad.mit.edu	37	chr3	50615277	50615277	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gcttcggttgcaggacaggaTttggatcatccacctcgaca	11	11	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.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		Somatic				HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	p.I212S	NM_016173.3	NP_057257.1	WXS	Illumina GAIIx	Phase_I	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	5	103	---	---	---	---	G	50615277	T	G	50615277	3	3	261	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	5	10084										
FAT4	79633	broad.mit.edu	37	chr4	126241810	126241810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	tcacgtgagggactttaatgAcaatcctcctagctttcctc	7	12	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.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		Somatic					p.D1415A	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	4	188	---	---	---	---	C	126241810	A	C	126241810	3	2	261	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		126241810	64912466	6	10085										
ADAM29	11086	broad.mit.edu	37	chr4	175896818	175896818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gcaccaccagaggcatgacaCctccaggctggctctcctat	9	16	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.chr4:175896818C>A	ENST00000359240.3	+	5	812	c.142C>A	c.(142-144)Cct>Act	p.P48T	ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T|ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|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	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		Somatic				ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T	p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	A	175896818	C	A	175896818	3	1	261	1	0	0	0	0	1	0	0	0	247	507	18	3	144	3	ADAM29	4	175896818	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	49655008	175896818	15257458	7	10086										
HEXB	3074	broad.mit.edu	37	chr5	74014787	74014787	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	actataaagtggaacctcttGattttggcggtaagtgaagc	11	6	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.chr5:74014787G>A	ENST00000261416.7	+	11	1525	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	HEXB_ENST00000509579.1_5'Flank|GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000511181.1_Missense_Mutation_p.D245N	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		Somatic				HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR	p.D245N			WXS	Illumina GAIIx	Phase_I	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	7	95	---	---	---	---	A	74014787	G	A	74014787	3	1	261	1	0	0	0	0	1	0	0	0	7074	1290	45	2	1450	2	HEXB	5	74014787	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		74014787	106900473	8	10087										
FBXW11	23291	broad.mit.edu	37	chr5	171299876	171299876	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gcacaccaacttctacccacCtaatggtattatctgatgat	5	12	2	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.chr5:171299876C>A	ENST00000265094.5	-	9	1414	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	FBXW11_ENST00000393802.2_Splice_Site_p.R392M|FBXW11_ENST00000296933.6_Splice_Site_p.R413M|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.(1237-1239)aGg>aTg		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			Somatic				FBXW11_ENST00000425623.2_Splice_Site_p.R394M|FBXW11_ENST00000265094.5_Splice_Site_p.R426M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M	p.R413M	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	WXS	Illumina GAIIx	Phase_I	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.1238G>T	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	4	30	---	---	---	---	A	171299876	C	A	171299876	5	1	261	1	0	0	0	0	0	0	1	0	5764	695	24	1	367	1	FBXW11	5	171299876	Splice_Site	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	97285089	171299876	9615384	9	10088										
MUC17	140453	broad.mit.edu	37	chr7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	ctgctgaaggtagcagcatgCcaacctcaactcctggtgaa	10	12	1	2	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		Somatic					p.P2683S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	6	351	---	---	---	---	T	100682744	C	T	100682744	3	4	261	1	0	0	0	0	1	0	0	0	9974	739	26	2	8057	2	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		100682744	58455919	10	10089										
PROSC	11212	broad.mit.edu	37	chr8	37632949	37632949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	agtttgtggggctgatgaccAtaggaagctttgggcatgat	15	5	0	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		Somatic					p.I183V	NM_007198.3	NP_009129.1	WXS	Illumina GAIIx	Phase_I	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	13	183	---	---	---	---	G	37632949	A	G	37632949	3	3	261	1	0	0	0	0	1	0	0	0	12559	217	8	2	569	2	PROSC	8	37632949	Missense_Mutation	SNP	A	TCGA-M7-A721-01A-12D-A32B-08		37632949	108731073	11	10090										
EFCAB1	79645	broad.mit.edu	37	chr8	49641689	49641689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	agtctgcaaaagacagcttcCcatcatggtcatgatcctag	8	11	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_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	3	50	---	---	---	---	G	49641689	C	G	49641689	3	3	261	1	0	0	0	0	1	0	0	0	4933	623	22	4	155	4	EFCAB1	8	49641689	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	12008740	49641689	96722333	12	10091										
KIAA2026	158358	broad.mit.edu	37	chr9	5919991	5919991	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	acttaattactgaagtcagtGatactgttggtacaggaggt	11	5	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.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*		Somatic				KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	p.S2002*	NM_001017969.2	NP_001017969.2	WXS	Illumina GAIIx	Phase_I	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	7	103	---	---	---	---	C	5919991	G	C	5919991	4	2	261	1	0	0	0	0	0	1	0	0	8270	1294	45	4	310	4	KIAA2026	9	5919991	Nonsense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		5919991	135293440	13	10092										
ASTN2	23245	broad.mit.edu	37	chr9	119202943	119202943	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gtcgccaaacttttcatagtGagagttgtagtggtgctgga	13	6	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.chr9:119202943G>T	ENST00000313400.4	-	22	3827	c.3727C>A	c.(3727-3729)Cac>Aac	p.H1243N	ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N|ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N			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		Somatic				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	p.H1243N			WXS	Illumina GAIIx	Phase_I	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	58	7	58	---	---	---	---	T	119202943	G	T	119202943	3	4	261	1	0	0	0	0	1	0	0	0	1065	1290	45	3	341	3	ASTN2	9	119202943	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	113282952	119202943	22010488	14	10093										
CRAT	1384	broad.mit.edu	37	chr9	131860406	131860406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	agggaggcactttcataggtGgcacatgcctgtccgtagat	13	9	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.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			Somatic				RP11-247A12.1_ENST00000434250.1_RNA	p.A450A	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	WXS	Illumina GAIIx	Phase_I	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	7	139	---	---	---	---	A	131860406	G	A	131860406	2	1	261	1	0	0	0	0	0	0	0	1	3847	1335	47	2		2	CRAT	9	131860406	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	12657463	131860406	9353025	15	10094										
DDX6	1656	broad.mit.edu	37	chr11	118636057	118636057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gttctctagtgggaacaatcAccattgctgaaacagtatca	8	9	3	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.chr11:118636057A>C	ENST00000526070.2	-	6	866	c.506T>G	c.(505-507)gTg>gGg	p.V169G	DDX6_ENST00000264018.4_Missense_Mutation_p.V169G|DDX6_ENST00000534980.1_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		Somatic				DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G	p.V169G	NM_004397.4	NP_004388.2	WXS	Illumina GAIIx	Phase_I	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	27	142	---	---	---	---	C	118636057	A	C	118636057	3	2	261	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		118636057	16370459	16	10095										
FREM2	341640	broad.mit.edu	37	chr13	39265100	39265100	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	tgatggaaggcatgagtctgGtaattgatacacccattctc	10	8	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.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		Somatic					p.V1207L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	46	293	---	---	---	---	C	39265100	G	C	39265100	3	2	261	1	0	0	0	0	1	0	0	0	6045	1261	44	4	3621	4	FREM2	13	39265100	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		39265100	75904778	17	10096										
ARHGAP5	394	broad.mit.edu	37	chr14	32560879	32560879	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	ggaacatataagaaaaaggaGagaagagtatataaatactt	9	2	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.chr14:32560879G>A	ENST00000345122.3	+	2	1319	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000396582.2_Intron	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		Somatic				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	p.R335K	NM_001030055.1	NP_001025226.1	WXS	Illumina GAIIx	Phase_I	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	11	88	---	---	---	---	A	32560879	G	A	32560879	3	1	261	1	0	0	0	0	1	0	0	0	886	942	33	2	1006	2	ARHGAP5	14	32560879	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08		32560879	74788661	18	10097										
SPTB	6710	broad.mit.edu	37	chr14	65270402	65270402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	tacaatgtcgtgggagcccaTgttctccaggtgtacacgct	11	11	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.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_ENST00000389722.3_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	A	65270402	T	A	65270402	3	1	261	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	19	10098										
AQR	9716	broad.mit.edu	37	chr15	35207358	35207358	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	agagtcaaaaactgcaaattCaatttgggaagagcaagaca	9	6	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.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			Somatic					p.L455L	NM_014691.2	NP_055506.1	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	T	35207358	C	T	35207358	2	4	261	1	0	0	0	0	0	0	0	1	835	825	29	2		2	AQR	15	35207358	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		35207358	67324034	20	10099										
SNX22	79856	broad.mit.edu	37	chr15	64445496	64445496	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	ggagttactggaattcctgaGacttcggcacttccccacag	10	12	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.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		Somatic					p.R106I	NM_024798.2	NP_079074.2	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	T	64445496	G	T	64445496	3	4	261	1	0	0	0	0	1	0	0	0	14894	942	33	3	331	3	SNX22	15	64445496	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	29238138	64445496	38085896	21	10100										
ASPA	443	broad.mit.edu	37	chr17	3386885	3386885	+	Splice_Site	DEL	G	G	-													0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	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.(523-525)gtg>gt		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			Somatic				ASPA_ENST00000456349.2_Splice_Site_p.V175fs|SPATA22_ENST00000541913.1_Intron	p.V175fs	NM_000049.2	NP_000040.1	WXS	Illumina GAIIx	Phase_I	P45381	ACY2_HUMAN			3	683	+			175						Splice_Site	DEL	ENST00000263080.2	37	c.525delG	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	261	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	22	10101										
CD68	968	broad.mit.edu	37	chr17	7484694	7484694	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	acctgccctatccttccgccAggtttctcctgccccagtga	7	18	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.chr17:7484694A>T	ENST00000250092.6	+	6	1142		c.e6-1		SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000423172.2_5'Flank|MPDU1_ENST00000250124.6_5'Flank|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000573187.1_RNA|MPDU1_ENST00000396501.4_5'Flank|CD68_ENST00000380498.6_Splice_Site	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			Somatic				CD68_ENST00000380498.6_Splice_Site		NM_001251.2	NP_001242.2	WXS	Illumina GAIIx	Phase_I	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	4	160	---	---	---	---	T	7484694	A	T	7484694	5	4	261	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	23	10102										
MYH4	4622	broad.mit.edu	37	chr17	10355471	10355471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	aggtccctgcgcattttctgGaactcagcctcccgcttctt	8	15	3	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.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_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_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			Somatic				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.F1175F	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	5	161	---	---	---	---	A	10355471	G	A	10355471	2	1	261	1	0	0	0	0	0	0	0	1	10037	1165	41	2		2	MYH4	17	10355471	Silent	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	2870777	10355471	70839739	24	10103										
TMEM132E	124842	broad.mit.edu	37	chr17	32964623	32964623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	cgccagccccgtcgtgccacCcacagaagacttcctgccgc	9	20	0	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.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		Somatic					p.P776H	NM_207313.1	NP_997196.1	WXS	Illumina GAIIx	Phase_I	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	4	27	---	---	---	---	A	32964623	C	A	32964623	3	1	261	1	0	0	0	0	1	0	0	0	16045	623	22	1	2365	1	TMEM132E	17	32964623	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	22609152	32964623	48230587	25	10104										
FBN3	84467	broad.mit.edu	37	chr19	8130923	8130923	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	acctccagccggtaggttccAggccccggccgcctccgccc	11	21	0	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.chr19:8130923A>C	ENST00000600128.1	-	64	8724	c.8310T>G	c.(8308-8310)ccT>ccG	p.P2770P	FBN3_ENST00000270509.2_Silent_p.P2770P|FBN3_ENST00000601739.1_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			Somatic				FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P	p.P2770P			WXS	Illumina GAIIx	Phase_I	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	14	51	---	---	---	---	C	8130923	A	C	8130923	2	2	261	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	26	10105										
SLC44A2	57153	broad.mit.edu	37	chr19	10747165	10747165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	gctggcgctgggccaggtcaCgctggccggggcctttgcct	17	14	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.chr19:10747165C>T	ENST00000335757.5	+	15	1776	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M|SLC44A2_ENST00000586078.1_Missense_Mutation_p.T467M			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		Somatic				SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M	p.T467M	NM_020428.3	NP_065161.3	WXS	Illumina GAIIx	Phase_I	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	9	82	---	---	---	---	T	10747165	C	T	10747165	3	4	261	1	0	0	0	0	1	0	0	0	14636	536	19	2	1493	2	SLC44A2	19	10747165	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	2616242	10747165	48381818	27	10106										
ZFP112	7771	broad.mit.edu	37	chr19	44832431	44832431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	acatttgaatggtttttctcCagtgtggactctctgatggc	10	8	2	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.chr19:44832431C>G	ENST00000337401.4	-	5	1985	c.1897G>C	c.(1897-1899)Gga>Cga	p.G633R	ZNF112_ENST00000354340.4_Missense_Mutation_p.G627R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	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		Somatic				ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	p.G627R	NM_013380.3	NP_037512.3	WXS	Illumina GAIIx	Phase_I					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	11	232	---	---	---	---	G	44832431	C	G	44832431	3	3	261	1	0	0	0	0	1	0	0	0	17635	603	21	4	848	4	ZFP112	19	44832431	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	34085266	44832431	14296552	28	10107										
ZNF417	147687	broad.mit.edu	37	chr19	58420529	58420529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	aggcctttctccagtgtgaaCacgctgatggttaataaagc	10	9	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.chr19:58420529C>A	ENST00000312026.5	-	3	1281	c.1117G>T	c.(1117-1119)Gtt>Ttt	p.V373F	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F|ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F	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		Somatic				ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F	p.V373F	NM_152475.2	NP_689688.2	WXS	Illumina GAIIx	Phase_I	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	10	192	---	---	---	---	A	58420529	C	A	58420529	3	1	261	1	0	0	0	0	1	0	0	0	17891	478	17	3	614	3	ZNF417	19	58420529	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	13588098	58420529	708454	29	10108										
MYH9	4627	broad.mit.edu	37	chr22	36708179	36708179	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	tggggtgggtgccctgctccTgcatcaccttctccacgaag	12	14	2	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.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		Somatic					p.Q548L	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	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	8	64	---	---	---	---	A	36708179	T	A	36708179	3	1	261	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	30	10109										
TLR8	51311	broad.mit.edu	37	chrX	12938245	12938245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	catattaatatttccagaaaCttctctaaacttttgtctct	2	9	2	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: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			Somatic				TLR8_ENST00000311912.5_Silent_p.N380N	p.N362N	NM_138636.4	NP_619542.1	WXS	Illumina GAIIx	Phase_I	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	11	106	---	---	---	---	T	12938245	C	T	12938245	2	4	261	1	0	0	0	0	0	0	0	1	15954	564	20	2		2	TLR8	23	12938245	Silent	SNP	C	TCGA-M7-A721-01A-12D-A32B-08		12938245	142332315	31	10110										
DDX53	168400	broad.mit.edu	37	chrX	23018291	23018291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	agtggccccttcggccatcaGggaccgagagcagcaggctc	14	14	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.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		Somatic				RP11-40F8.2_ENST00000455399.1_lincRNA	p.Q39H	NM_182699.3	NP_874358.2	WXS	Illumina GAIIx	Phase_I	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	4	13	---	---	---	---	T	23018291	G	T	23018291	3	4	261	1	0	0	0	0	1	0	0	0	4371	991	35	1	119	1	DDX53	23	23018291	Missense_Mutation	SNP	G	TCGA-M7-A721-01A-12D-A32B-08	10080046	23018291	132252269	32	10111										
ERCC6L	54821	broad.mit.edu	37	chrX	71425375	71425375	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.121212121212121	4	0.968713181754189	1.95555555555556	1.46666666666667	2.2	0.545454545454546	1	0	tcatagacttatttacactaCtgggtatttgagatgaaaag	8	5	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.chrX:71425375C>G	ENST00000334463.3	-	2	3377	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S958T|PIN4_ENST00000423432.2_Intron	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		Somatic				ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T|PIN4_ENST00000423432.2_Intron	p.S958T			WXS	Illumina GAIIx	Phase_I	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	9	60	---	---	---	---	G	71425375	C	G	71425375	3	3	261	1	0	0	0	0	1	0	0	0	5218	565	20	4	514	4	ERCC6L	23	71425375	Missense_Mutation	SNP	C	TCGA-M7-A721-01A-12D-A32B-08	48407084	71425375	83845185	33	10112										
VPS13D	55187	broad.mit.edu	37	chr1	12333082	12333082	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	ggagagtaaacgatggaccgTgcggctggatatttctgccc	14	9	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.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		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.V709E	p.V709E	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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	18	66	---	---	---	---	A	12333082	T	A	12333082	3	1	262	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	10113										
TTN	7273	broad.mit.edu	37	chr2	179594623	179594623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	tcaaatgttgttgactgtccAttcctcagcactaagactgg	8	10	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.chr2:179594623A>T	ENST00000591111.1	-	61	17630	c.17406T>A	c.(17404-17406)aaT>aaA	p.N5802K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N6119K|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K|TTN_ENST00000342175.6_Intron			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		Somatic				TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5802K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4875K	p.N6119K	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	10	9	---	---	---	---	T	179594623	A	T	179594623	3	4	262	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		179594623	63604750	2	10114										
SATB2	23314	broad.mit.edu	37	chr2	200233398	200233398	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gttgctgacacattggcataAtatgtgctatttacaatgga	9	6	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.chr2:200233398A>T	ENST00000417098.1	-	6	1446	c.630T>A	c.(628-630)taT>taA	p.Y210*	SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000443023.1_Nonsense_Mutation_p.Y151*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*	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*		Somatic				SATB2_ENST00000417098.1_Nonsense_Mutation_p.Y210*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Y210*|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Y210*	p.Y151*			WXS	Illumina GAIIx	Phase_I	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	31	41	---	---	---	---	T	200233398	A	T	200233398	4	4	262	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	3	10115										
WDR49	151790	broad.mit.edu	37	chr3	167249006	167249006	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	cggactcccgtggtagaatgGtctgccatggggtgggaggg	19	8	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.chr3:167249006G>C	ENST00000308378.3	-	9	1364	c.1059C>G	c.(1057-1059)gaC>gaG	p.D353E	WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E|WDR49_ENST00000479765.1_Intron	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		Somatic				WDR49_ENST00000453925.2_Missense_Mutation_p.D417E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D178E	p.D353E	NM_178824.3	NP_849146.1	WXS	Illumina GAIIx	Phase_I	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	75	4	75	---	---	---	---	C	167249006	G	C	167249006	3	2	262	1	0	0	0	0	1	0	0	0	17299	1252	44	4	1062	4	WDR49	3	167249006	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		167249006	30773424	4	10116										
PROM1	8842	broad.mit.edu	37	chr4	16019994	16019994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	tggcttagagacaatctgatGctgttgcaggtttcacttga	11	7	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.chr4:16019994G>A	ENST00000510224.1	-	9	1202	c.954C>T	c.(952-954)agC>agT	p.S318S	PROM1_ENST00000505450.1_Silent_p.S309S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_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			Somatic				PROM1_ENST00000510224.1_Silent_p.S318S|PROM1_ENST00000539194.1_Silent_p.S318S|PROM1_ENST00000508167.1_Silent_p.S309S|PROM1_ENST00000540805.1_Silent_p.S318S|PROM1_ENST00000543373.1_Silent_p.S309S|PROM1_ENST00000447510.2_Silent_p.S318S|PROM1_ENST00000502943.1_5'UTR	p.S309S	NM_001145848.1	NP_001139320.1	WXS	Illumina GAIIx	Phase_I	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	17	29	---	---	---	---	A	16019994	G	A	16019994	2	1	262	1	0	0	0	0	0	0	0	1	12555	1310	46	2		2	PROM1	4	16019994	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		16019994	175134282	5	10117										
IRF4	3662	broad.mit.edu	37	chr6	397164	397164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	agctggagggactacgtcccGgatcagccacacccggaaat	12	13	1	0	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			Somatic				IRF4_ENST00000495137.1_3'UTR	p.P183P	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	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	50	60	---	---	---	---	A	397164	G	A	397164	2	1	262	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	6	10118										
CSMD3	114788	broad.mit.edu	37	chr8	113358324	113358324	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	cacgtgtttttaatacacatAccaaaacctatgggtagatt	6	8	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.chr8:113358324A>G	ENST00000297405.5	-	41	6687		c.e41+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_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						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)	Somatic				CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site		NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	27	102	---	---	---	---	G	113358324	A	G	113358324	5	3	262	1	0	0	0	0	0	0	1	0	3946	405	14	2	4803	2	CSMD3	8	113358324	Splice_Site	SNP	A	TCGA-M7-A725-01A-12D-A32B-08		113358324	33005698	7	10119										
TAF2	6873	broad.mit.edu	37	chr8	120756627	120756627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	ctcctcctcatcttgagaacTggaaaactaaaacacacaca	4	13	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.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		Somatic					p.S1039G	NM_003184.3	NP_003175	WXS	Illumina GAIIx	Phase_I	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	5	193	---	---	---	---	C	120756627	T	C	120756627	3	2	262	1	0	0	0	0	1	0	0	0	15521	1580	55	2	496	2	TAF2	8	120756627	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	7398303	120756627	25607395	8	10120										
TAF1L	138474	broad.mit.edu	37	chr9	32634331	32634333	+	In_Frame_Del	DEL	AGA	AGA	-													0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	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)cttctg>ctg		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		Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.415_416LL>L	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	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	262	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	9	10121										
NTNG2	84628	broad.mit.edu	37	chr9	135102298	135102298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gggcagcctgcagtgcgagtGcgagcacaacaccaccggcc	14	15	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.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		Somatic				NTNG2_ENST00000372179.3_Missense_Mutation_p.C307F|NTNG2_ENST00000393228.4_Missense_Mutation_p.C307F|NTNG2_ENST00000360670.3_Missense_Mutation_p.C307F	p.C307F	NM_032536.2	NP_115925.2	WXS	Illumina GAIIx	Phase_I	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	5	10	---	---	---	---	T	135102298	G	T	135102298	3	4	262	1	0	0	0	0	1	0	0	0	10705	1319	46	3	930	3	NTNG2	9	135102298	Missense_Mutation	SNP	G	TCGA-M7-A725-01A-12D-A32B-08	102467967	135102298	6111133	10	10122										
ADAMTS13	11093	broad.mit.edu	37	chr9	136323143	136323143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	cattaatgtggctccgcacgCacggattgccatccatgccc	9	15	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.chr9:136323143C>T	ENST00000371929.3	+	28	4448	c.4004C>T	c.(4003-4005)gCa>gTa	p.A1335V	CACFD1_ENST00000316948.4_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000485925.1_Intron|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|CACFD1_ENST00000542192.1_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000371916.1_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	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		Somatic				ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279V	p.A1335V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina GAIIx	Phase_I	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	12	27	---	---	---	---	T	136323143	C	T	136323143	3	4	262	1	0	0	0	0	1	0	0	0	258	710	25	2	4114	2	ADAMTS13	9	136323143	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	1220845	136323143	4890288	11	10123										
JMJD1C	221037	broad.mit.edu	37	chr10	64958388	64958388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	atatctagttcatcatcttcAaaattttcatgtgtccacaa	3	9	6	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.chr10:64958388A>G	ENST00000399262.2	-	12	5594	c.5376T>C	c.(5374-5376)ttT>ttC	p.F1792F	JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F|JMJD1C_ENST00000399251.1_3'UTR	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			Somatic				JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Silent_p.F1610F|JMJD1C_ENST00000402544.1_Silent_p.F1573F	p.F1792F	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	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	5	119	---	---	---	---	G	64958388	A	G	64958388	2	3	262	1	0	0	0	0	0	0	0	1	7950	127	5	2		2	JMJD1C	10	64958388	Silent	SNP	A	TCGA-M7-A725-01A-12D-A32B-08		64958388	70576359	12	10124										
C10orf118	55088	broad.mit.edu	37	chr10	115922869	115922869	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	ttatgctcattaggttgacaTaaagttttatcagtgtttaa	7	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.chr10:115922869T>A	ENST00000369287.3	-	2	425	c.159A>T	c.(157-159)ttA>ttT	p.L53F	C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F|C10orf118_ENST00000369286.1_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		Somatic				C10orf118_ENST00000369286.1_Missense_Mutation_p.L53F|C10orf118_ENST00000369285.3_Missense_Mutation_p.L53F	p.L53F	NM_018017.2	NP_060487.2	WXS	Illumina GAIIx	Phase_I	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	45	69	---	---	---	---	A	115922869	T	A	115922869	3	1	262	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	13	10125										
LRP4	4038	broad.mit.edu	37	chr11	46898339	46898339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gtgagccatccagattggcaCgactgatcctgtgcagtgtg	13	10	0	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.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		Somatic					p.R1107H	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	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	8	115	---	---	---	---	T	46898339	C	T	46898339	3	4	262	1	0	0	0	0	1	0	0	0	8959	536	19	2	2457	2	LRP4	11	46898339	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		46898339	88108177	14	10126										
ATM	472	broad.mit.edu	37	chr11	108175442	108175442	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gactgtacttccatacttgaTtcatgatattttactccaag	5	9	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.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)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.I1846N	p.I1846N	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	17	24	---	---	---	---	A	108175442	T	A	108175442	3	1	262	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	15	10127										
SLC37A4	2542	broad.mit.edu	37	chr11	118899962	118899962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	cttgtccaaagggatctcttCcaccaatgatggcatgacaa	8	11	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.chr11:118899962C>T	ENST00000545985.1	-	3	874	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|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	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		Somatic				SLC37A4_ENST00000357590.5_Missense_Mutation_p.E40K|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000330775.7_Missense_Mutation_p.E40K|SLC37A4_ENST00000525102.1_5'UTR	p.E40K	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	WXS	Illumina GAIIx	Phase_I	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	9	15	---	---	---	---	T	118899962	C	T	118899962	3	4	262	1	0	0	0	0	1	0	0	0	14600	864	30	2	1274	2	SLC37A4	11	118899962	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	10724520	118899962	16106554	16	10128										
MAP3K9	4293	broad.mit.edu	37	chr14	71267477	71267477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	aatctgcacagcccaattcaCcaggatgtctgggggaatcc	10	12	3	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.chr14:71267477C>T	ENST00000554752.2	-	2	726	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M|MAP3K9_ENST00000381250.4_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		Somatic				MAP3K9_ENST00000381250.4_Missense_Mutation_p.V243M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.V243M	p.V243M	NM_001284230.1	NP_001271159.1	WXS	Illumina GAIIx	Phase_I	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	31	34	---	---	---	---	T	71267477	C	T	71267477	3	4	262	1	0	0	0	0	1	0	0	0	9257	507	18	2	2677	2	MAP3K9	14	71267477	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		71267477	36082063	17	10129										
ABCA9	10350	broad.mit.edu	37	chr17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	ttcttactttgtagtcaccaAtgctgctcattgcaatgtat	6	9	3	0	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_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	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		Somatic				ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA	p.I1045T	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	G	67008130	A	G	67008130	3	3	262	1	0	0	0	0	1	0	0	0	39	101	4	2	1808	2	ABCA9	17	67008130	Missense_Mutation	SNP	A	TCGA-M7-A725-01A-12D-A32B-08		67008130	14187080	18	10130										
ABHD8	79575	broad.mit.edu	37	chr19	17405642	17405642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	tactcatgtgccaggaatgtGcagaaagagacactgcccgg	12	10	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.chr19:17405642G>A	ENST00000247706.3	-	3	1013	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_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			Somatic				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.C258C	NM_024527.4	NP_078803.4	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	A	17405642	G	A	17405642	2	1	262	1	0	0	0	0	0	0	0	1	87	1311	46	2		2	ABHD8	19	17405642	Silent	SNP	G	TCGA-M7-A725-01A-12D-A32B-08		17405642	41723341	19	10131										
ZNF285	26974	broad.mit.edu	37	chr19	44891888	44891888	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	tgagcacgtctgtacaatttCtcttccatgtaaattccctt	5	11	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.chr19:44891888C>A	ENST00000330997.4	-	4	583	c.519G>T	c.(517-519)gaG>gaT	p.E173D	ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D	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		Somatic				ZNF285_ENST00000591679.1_Missense_Mutation_p.E180D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E173D	p.E173D	NM_152354.3	NP_689567.3	WXS	Illumina GAIIx	Phase_I					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	5	132	---	---	---	---	A	44891888	C	A	44891888	3	1	262	1	0	0	0	0	1	0	0	0	17819	912	32	3	1257	3	ZNF285	19	44891888	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	27486246	44891888	14237095	20	10132										
LIG1	3978	broad.mit.edu	37	chr19	48636261	48636261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gtgccctctgcccgtcatatTtgtattcgcaggtgaaagct	10	11	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.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		Somatic				LIG1_ENST00000536218.1_Missense_Mutation_p.K500R|LIG1_ENST00000427526.2_Missense_Mutation_p.K537R	p.K568R	NM_000234.1	NP_000225.1	WXS	Illumina GAIIx	Phase_I	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	7	197	---	---	---	---	C	48636261	T	C	48636261	3	2	262	1	0	0	0	0	1	0	0	0	8781	1841	64	2	1100	2	LIG1	19	48636261	Missense_Mutation	SNP	T	TCGA-M7-A725-01A-12D-A32B-08	3744373	48636261	10492722	21	10133										
ZNF548	147694	broad.mit.edu	37	chr19	57908537	57908537	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gaatttggcccttttgtcctCactaggtaaggccctcacac	8	13	2	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.chr19:57908537C>T	ENST00000366197.5	+	2	387	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR	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		Somatic				AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_Missense_Mutation_p.S58L|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.S58L|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.S58L	p.S46L	NM_152909.3	NP_690873.2	WXS	Illumina GAIIx	Phase_I	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	129	219	---	---	---	---	T	57908537	C	T	57908537	3	4	262	1	0	0	0	0	1	0	0	0	17977	838	29	2	183	2	ZNF548	19	57908537	Missense_Mutation	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	9272276	57908537	1220446	22	10134										
ADAMTS5	11096	broad.mit.edu	37	chr21	28338099	28338099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	gtttcgcagctggcgcgcggCggcagggcctcgaagctgaa	17	12	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.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			Somatic					p.P204P	NM_007038.3	NP_008969.2	WXS	Illumina GAIIx	Phase_I	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	4	6	---	---	---	---	T	28338099	C	T	28338099	2	4	262	1	0	0	0	0	0	0	0	1	269	755	27	2		2	ADAMTS5	21	28338099	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08		28338099	19791796	23	10135										
C21orf63	59271	broad.mit.edu	37	chr21	33887452	33887452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	attcaggaaatatggatgaaCagtggtttggacacctcgct	11	7	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.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			Somatic				EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Silent_p.N378N|EVA1C_ENST00000382699.3_Silent_p.N423N	p.N426N	NM_058187.3	NP_478067.2	WXS	Illumina GAIIx	Phase_I					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	5	89	---	---	---	---	T	33887452	C	T	33887452	2	4	262	1	0	0	0	0	0	0	0	1	2131	477	17	2		2	C21orf63	21	33887452	Silent	SNP	C	TCGA-M7-A725-01A-12D-A32B-08	5549353	33887452	14242443	24	10136										
YY2	404281	broad.mit.edu	37	chrX	21875524	21875524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.04	1	1	0.675141242937853	0	0.736517719568567	1	1	0	accagctggtccacaccggcGagaagccctttcagtgcaca	10	15	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_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	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		Somatic				MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	p.E308K	NM_206923.3	NP_996806.2	WXS	Illumina GAIIx	Phase_I	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	121	19	---	---	---	---	A	21875524	G	A	21875524	3	1	262	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	25	10137										
FAF1	11124	broad.mit.edu	37	chr1	51049325	51049325	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttaatgtcctaaccctaccTtgaagaaaactctgctgtaa	6	10	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.chr1:51049325T>C	ENST00000396153.2	-	11	1481	c.1030A>G	c.(1030-1032)Aga>Gga	p.R344G	RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000371778.4_Splice_Site_p.R344G|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000472808.1_5'UTR	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.(1030-1032)Aga>Gga		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			Somatic				FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000371778.4_Splice_Site_p.R344G	p.R344G	NM_007051.2	NP_008982.1	WXS	Illumina GAIIx	Phase_I	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.1030A>G	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	10	31	---	---	---	---	C	51049325	T	C	51049325	5	2	263	1	0	0	0	0	0	0	1	0	5369	1623	56	2	958	2	FAF1	1	51049325	Splice_Site	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		51049325	198201296	1	10138										
PPM1G	5496	broad.mit.edu	37	chr2	27608655	27608655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctttttcatcttcatccTcagtgggtcgccctgcaatc	6	13	5	0			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		Somatic				PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	p.E123G	NM_177983.2	NP_817092.1	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	C	27608655	T	C	27608655	3	2	263	1	0	0	0	0	1	0	0	0	12340	1551	54	2	1300	2	PPM1G	2	27608655	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27608655	215590718	2	10139										
GUF1	60558	broad.mit.edu	37	chr4	44682800	44682800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcactgttaaagcacagacaGcatctctcttttacaattgt	5	10	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.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		Somatic				GUF1_ENST00000506793.1_3'UTR	p.A123T	NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	A	44682800	G	A	44682800	3	1	263	1	0	0	0	0	1	0	0	0	6899	971	34	2	377	2	GUF1	4	44682800	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		44682800	146471476	3	10140										
CARD6	84674	broad.mit.edu	37	chr5	40854090	40854090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaagcaactggaaaactgAtaagaacatcccatattgga	8	8	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.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		Somatic				CARD6_ENST00000381677.3_Intron	p.I886V	NM_032587.3	NP_115976.2	WXS	Illumina GAIIx	Phase_I	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	32	85	---	---	---	---	G	40854090	A	G	40854090	3	3	263	1	0	0	0	0	1	0	0	0	2650	333	12	2	2666	2	CARD6	5	40854090	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		40854090	140061170	4	10141										
CUX1	1523	broad.mit.edu	37	chr7	101916637	101916637	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtcttcctttggccacagGacgctgtgcagagctgcaag	12	11	1	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.chr7:101916637G>T	ENST00000437600.4	+	15	1602	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V	CUX1_ENST00000292538.4_Splice_Site_p.G419V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000425244.2_Splice_Site_p.G373V|CUX1_ENST00000393824.3_Splice_Site_p.G380V	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.(1249-1251)gGa>gTa		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			Somatic				CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000292538.4_Splice_Site_p.G419V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.G373V	p.G417V	NM_181500.2	NP_852477.1	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			15	1602	+			408					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000437600.4	37	c.1250G>T	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	3	12	---	---	---	---	T	101916637	G	T	101916637	5	4	263	1	0	0	0	0	0	0	1	0	4064	1188	41	3	4684	3	CUX1	7	101916637	Splice_Site	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		101916637	57222026	5	10142										
MTUS1	57509	broad.mit.edu	37	chr8	17612416	17612416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taatgcagaatcattggggaCttccatgccatcagaaactg	9	9	2	2	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		Somatic				MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L	p.V301L	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	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	4	144	---	---	---	---	G	17612416	C	G	17612416	3	3	263	1	0	0	0	0	1	0	0	0	9965	565	20	4	3286	4	MTUS1	8	17612416	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		17612416	128751606	6	10143										
GOLGA2	2801	broad.mit.edu	37	chr9	131019398	131019398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcagcccggtaaaaaaaaGgaatgcaggggttgctgccc	13	10	1	0			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	GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L|AL590708.1_ENST00000408370.1_RNA	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		Somatic				GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L	p.P986L	NM_004486.4	NP_004477.3	WXS	Illumina GAIIx	Phase_I	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	4	170	---	---	---	---	A	131019398	G	A	131019398	3	1	263	1	0	0	0	0	1	0	0	0	6552	1000	35	2	55	2	GOLGA2	9	131019398	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		131019398	10194033	7	10144										
ATE1	11101	broad.mit.edu	37	chr10	123659394	123659395	+	Frame_Shift_Ins	INS	-	-	GC													0	0	1	0	0	0	1	1	0	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_ENST00000535655.1_Frame_Shift_Ins_p.P11fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000481784.1_Intron	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)ccafs		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		Somatic				ATE1_ENST00000369040.3_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.P310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron	p.P11fs			WXS	Illumina GAIIx	Phase_I	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	263	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		123659394	11875353	8	10145										
OR10G4	390264	broad.mit.edu	37	chr11	123886915	123886915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcctcaggctgctttgtcCtgatagtgctgtcctatgtg	12	10	1	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.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			Somatic					p.L212L	NM_001004462.1	NP_001004462.1	WXS	Illumina GAIIx	Phase_I	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	24	95	---	---	---	---	T	123886915	C	T	123886915	2	4	263	1	0	0	0	0	0	0	0	1	10901	680	24	2		2	OR10G4	11	123886915	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		123886915	11119601	9	10146										
PRB4	5545	broad.mit.edu	37	chr12	11461248	11461248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggaggtggcccctggggCtttccagcaggaggtgcctg	19	10	0	0			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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	43	132	---	---	---	---	T	11461248	C	T	11461248	2	4	263	1	0	0	0	0	0	0	0	1	12445	796	28	2		2	PRB4	12	11461248	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		11461248	122390647	10	10147										
PTGR2	145482	broad.mit.edu	37	chr14	74346776	74346776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatgaatgagaacagccacAtcatcctgtgtggtcaaatt	9	8	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.chr14:74346776A>G	ENST00000555661.1	+	7	893	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V			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		Somatic				RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V	p.I250V			WXS	Illumina GAIIx	Phase_I	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	14	33	---	---	---	---	G	74346776	A	G	74346776	3	3	263	1	0	0	0	0	1	0	0	0	12754	217	8	2	770	2	PTGR2	14	74346776	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		74346776	33002764	11	10148										
RYR3	6263	broad.mit.edu	37	chr15	34015067	34015067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgagaacccagcgctcgaCctcccctctcaaggatacaa	7	16	2	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	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Silent_p.D2257D	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			Somatic				RYR3_ENST00000415757.3_Silent_p.D2257D	p.D2257D	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	38	88	---	---	---	---	T	34015067	C	T	34015067	2	4	263	1	0	0	0	0	0	0	0	1	13770	506	18	2		2	RYR3	15	34015067	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		34015067	68516325	12	10149										
ARMC5	79798	broad.mit.edu	37	chr16	31473879	31473881	+	In_Frame_Del	DEL	TAA	TAA	-													0	0	1	0	0	0	1	1	0	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_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000412665.2_Intron|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000457010.2_In_Frame_Del_p.N338del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del			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)cctaat>cct		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		Somatic				ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000563544.1_In_Frame_Del_p.N338del|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|ARMC5_ENST00000412665.2_Intron	p.N338del	NM_024742.2	NP_079018.1	WXS	Illumina GAIIx	Phase_I	Q96C12	ARMC5_HUMAN			3	1712_1714	+			338					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	263	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	13	10150										
SSH2	85464	broad.mit.edu	37	chr17	27963447	27963447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccaggctgaattaaggcttTggatgcatggcaattgtcaa	11	7	1	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.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		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	p.K574E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	C	27963447	T	C	27963447	3	2	263	1	0	0	0	0	1	0	0	0	15184	1821	63	2	2559	2	SSH2	17	27963447	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27963447	53231763	14	10151										
RFX1	5989	broad.mit.edu	37	chr19	14083867	14083867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctgggtggccgtgcctgcGgcctcgtagtagctggtgct	16	12	0	0			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			Somatic					p.A334A	NM_002918.4	NP_002909.4	WXS	Illumina GAIIx	Phase_I	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	12	37	---	---	---	---	A	14083867	G	A	14083867	2	1	263	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	15	10152										
NXF3	56000	broad.mit.edu	37	chrX	102337986	102337986	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcctgggagacatcacactGttggttcatggccagctgca	11	11	2	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.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*		Somatic				NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	p.Q213*	NM_022052.1	NP_071335.1	WXS	Illumina GAIIx	Phase_I	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	71	71	---	---	---	---	A	102337986	G	A	102337986	4	1	263	1	0	0	0	0	0	1	0	0	10785	1386	48	2	1010	2	NXF3	23	102337986	Nonsense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		102337986	52932574	16	10153										
ACTRT1	139741	broad.mit.edu	37	chrX	127185962	127185963	+	Missense_Mutation	DNP	TC	TC	GA													0	0	1	0	0	0	1	1	0	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:127185962_127185963TC>GA	ENST00000371124.3	-	1	419_420	c.223_224GA>TC	c.(223-225)GAg>TCg	p.E75S		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						CAGTCCACGCTCAATGGGGTAG	0.465																																						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|c.(223-225)Gag>Tag		actin-related protein T1																																				SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185962T>G|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.223_224delinsGA	X.37:g.127185962_127185963delinsGA	ENSP00000360165:p.Glu75Ser		Somatic					p.E75A|p.E75*	NM_138289.3	NP_612146.1	WXS	Illumina GAIIx	Phase_I	Q8TDG2	ACTT1_HUMAN			1	420|419	-			75					Q6X7C1|Q96L10	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000371124.3	37	c.224A>C|c.223G>T	CCDS14611.1																																																																																				0.465	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5|4	121|115	4	115	---	---	---	---	GA	127185963	TC	GA	127185962	3	3	263	1	0	0	0	0	1	0	0	0	218	1551	54	5	910	5	ACTRT1	23	127185962	Missense_Mutation	DNP	TC	TCGA-QU-A6IP-01A-11D-A31L-08	24847976	127185962	28084598	17	10154										
DISP1	84976	broad.mit.edu	37	chr1	223116655	223116655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	ttcagcatcagcctgtgcaaCagcacatagccaacataagg	8	12	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.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		Somatic				DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K	p.Q164K	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	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	10	87	---	---	---	---	A	223116655	C	A	223116655	3	1	264	1	0	0	0	0	1	0	0	0	4539	479	17	3	492	3	DISP1	1	223116655	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08		223116655	26133966	1	10155										
TTN	7273	broad.mit.edu	37	chr2	179480436	179480436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	cagggccacatttgttacgaGcacaaactttaaataagtac	7	9	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.chr2:179480436G>T	ENST00000591111.1	-	208	43693	c.43469C>A	c.(43468-43470)gCt>gAt	p.A14490D	TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16131D|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D			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		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.A16131D	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	13	83	---	---	---	---	T	179480436	G	T	179480436	3	4	264	1	0	0	0	0	1	0	0	0	16732	971	34	3	59721	3	TTN	2	179480436	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		179480436	63718937	2	10156										
F11	2160	broad.mit.edu	37	chr4	187201675	187201675	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	aaacggatctccaactaaaaTacttcacgggagaggaggca	10	9	2	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.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		Somatic				F11_ENST00000403665.2_Missense_Mutation_p.I359T	p.I307T			WXS	Illumina GAIIx	Phase_I	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	11	50	---	---	---	---	C	187201675	T	C	187201675	3	2	264	1	0	0	0	0	1	0	0	0	5337	1406	49	2	1110	2	F11	4	187201675	Missense_Mutation	SNP	T	TCGA-SU-A7E7-01A-22D-A33T-08		187201675	3952601	3	10157										
C5orf22	55322	broad.mit.edu	37	chr5	31534435	31534435	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	catcttcctgccagtaatgtAagttttttacatttcgactc	5	10	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.chr5:31534435A>T	ENST00000325366.9	+	2	265	c.138A>T	c.(136-138)gtA>gtT	p.V46V	DROSHA_ENST00000504361.1_5'Flank|C5orf22_ENST00000355907.3_De_novo_Start_OutOfFrame|DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000513349.1_5'Flank	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			Somatic				C5orf22_ENST00000325366.9_Silent_p.V46V				WXS	Illumina GAIIx	Phase_I	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	27	127	---	---	---	---	T	31534435	A	T	31534435	2	4	264	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	4	10158										
ZNF608	57507	broad.mit.edu	37	chr5	124036776	124036776	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	aggttcacagggcccaagacActctggctctgtcactactc	9	14	4	1	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		Somatic				ZNF608_ENST00000504926.1_5'UTR	p.C365S	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	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	9	73	---	---	---	---	T	124036776	A	T	124036776	3	4	264	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	5	10159										
HSP90AB1	3326	broad.mit.edu	37	chr6	44216408	44216409	+	Frame_Shift_Del	DEL	TT	TT	-													0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	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)acttttfs		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		Somatic				HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs	p.F15fs			WXS	Illumina GAIIx	Phase_I	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)		15					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	264	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	6	10160										
CA8	767	broad.mit.edu	37	chr8	61137094	61137094	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	atgcaatcaggtaaatactcAcctggtaataaagtgttagg	9	6	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.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			Somatic				CA8_ENST00000528666.1_Splice_Site		NM_004056.4	NP_004047.3	WXS	Illumina GAIIx	Phase_I	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	11	101	---	---	---	---	C	61137094	A	C	61137094	5	2	264	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		61137094	85226928	7	10161										
C9orf68	55064	broad.mit.edu	37	chr9	4604231	4604231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	ttcttcagagggtagcttggTctttcaatgatataatttac	8	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.chr9:4604231T>G	ENST00000454239.2	-	12	1373	c.1128A>C	c.(1126-1128)agA>agC	p.R376S	SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S			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		Somatic				SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S	p.R376S			WXS	Illumina GAIIx	Phase_I	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	5	44	---	---	---	---	G	4604231	T	G	4604231	3	3	264	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	8	10162										
TRIM8	81603	broad.mit.edu	37	chr10	104414839	104414839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	tgccctctgtactcgcaggaGaaagtgaaccaactgaagga	11	10	1	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.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																																						ENST00000302424.7																			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			Somatic				TRIM8_ENST00000487927.1_3'UTR	p.E223E	NM_030912.2	NP_112174.2	WXS	Illumina GAIIx	Phase_I	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)						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	5	38	---	---	---	---	A	104414839	G	A	104414839	2	1	264	1	0	0	0	0	0	0	0	1	16545	933	33	2		2	TRIM8	10	104414839	Silent	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		104414839	31119908	9	10163										
CCNK	8812	broad.mit.edu	37	chr14	99961911	99961911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	atgtaaagatatcatcaaaaCagctcgtagtttattaaatg	6	5	2	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.chr14:99961911C>T	ENST00000389879.5	+	4	479	c.356C>T	c.(355-357)aCa>aTa	p.T119I	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.T119I	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		Somatic				CCNK_ENST00000555049.1_Missense_Mutation_p.T119I|CCNK_ENST00000557165.1_3'UTR	p.T119I	NM_001099402.1	NP_001092872.1	WXS	Illumina GAIIx	Phase_I	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	11	79	---	---	---	---	T	99961911	C	T	99961911	3	4	264	1	0	0	0	0	1	0	0	0	2930	478	17	2	366	2	CCNK	14	99961911	Missense_Mutation	SNP	C	TCGA-SU-A7E7-01A-22D-A33T-08		99961911	7387629	10	10164										
CNTROB	116840	broad.mit.edu	37	chr17	7852810	7852810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	ccgagtagcatgaggagccgGgggggagtctggagatgagc	20	7	1	3	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_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Silent_p.R920R|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			Somatic				CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.R899R|CNTROB_ENST00000563694.1_Silent_p.R898R	p.R920R	NM_001037144.5	NP_001032221.1	WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	T	7852810	G	T	7852810	2	4	264	1	0	0	0	0	0	0	0	1	3651	1219	43	1		1	CNTROB	17	7852810	Silent	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		7852810	73342400	11	10165										
EPN2	22905	broad.mit.edu	37	chr17	19215386	19215386	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	aagaacgcctcaggcggggtGatgacctcagattacagatg	13	9	2	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.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_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|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		Somatic				EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|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	WXS	Illumina GAIIx	Phase_I	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	8	105	---	---	---	---	A	19215386	G	A	19215386	3	1	264	1	0	0	0	0	1	0	0	0	5186	1290	45	2	915	2	EPN2	17	19215386	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	11362576	19215386	61979824	12	10166										
CYTSB	92521	broad.mit.edu	37	chr17	20109180	20109180	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	gagctcagacaagaattactAaaggcaaacggtgaaattaa	9	6	1	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_ENST00000395530.2_Silent_p.L525L|SPECC1_ENST00000395525.3_Silent_p.L525L|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395522.2_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000536879.1_Intron	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			Somatic				SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA	p.L525L	NM_001033555.2	NP_001028727.1	WXS	Illumina GAIIx	Phase_I	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	12	93	---	---	---	---	G	20109180	A	G	20109180	2	3	264	1	0	0	0	0	0	0	0	1	4210	349	13	2		2	CYTSB	17	20109180	Silent	SNP	A	TCGA-SU-A7E7-01A-22D-A33T-08	893794	20109180	61086030	13	10167										
ZNF823	55552	broad.mit.edu	37	chr19	11832577	11832577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	aggaacggagagaactcaatGctttcccacattccttacat	7	11	1	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.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)	Somatic				ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	p.A591E	NM_001080493.2	NP_001073962.1	WXS	Illumina GAIIx	Phase_I	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	4	75	---	---	---	---	T	11832577	G	T	11832577	3	4	264	1	0	0	0	0	1	0	0	0	18176	1319	46	3	64	3	ZNF823	19	11832577	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08		11832577	47296406	14	10168										
DMRTC2	63946	broad.mit.edu	37	chr19	42351581	42351581	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	ccagagacccccagagcacaGagctgatccccaggagagcc	11	16	0	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.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		Somatic				DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q	p.E29Q	NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	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	15	138	---	---	---	---	C	42351581	G	C	42351581	3	2	264	1	0	0	0	0	1	0	0	0	4591	943	33	4	87	4	DMRTC2	19	42351581	Missense_Mutation	SNP	G	TCGA-SU-A7E7-01A-22D-A33T-08	30519004	42351581	16777402	15	10169										
FAM47B	170062	broad.mit.edu	37	chrX	34960974	34960974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	0.853525798085268	3.65	6.08333333333333	3.04166666666667	1	1	0	ggaccggaggccacaggaccGgccaaggtcccaaggcatgg	16	13	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.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		Somatic					p.R9Q	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	A	34960974	G	A	34960974	3	1	264	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	16	10170										
INADL	10207	broad.mit.edu	37	chr1	62257043	62257043	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	agttctctttttgaaacttaTaatgttgagcttgtgagaaa	8	4	1	3	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			Somatic				INADL_ENST00000316485.6_Silent_p.Y364Y	p.Y364Y	NM_176877.2	NP_795352	WXS	Illumina GAIIx	Phase_I	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	19	34	---	---	---	---	C	62257043	T	C	62257043	2	2	265	1	0	0	0	0	0	0	0	1	7731	1413	49	2		2	INADL	1	62257043	Silent	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08		62257043	186993578	1	10171										
HMCN1	83872	broad.mit.edu	37	chr1	186024595	186024595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	acccgagggaagagtatctcCttggagtgtgaggtgcaggg	17	7	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.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			Somatic				HMCN1_ENST00000367492.2_Silent_p.S2311S	p.S2311S	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	10	37	---	---	---	---	T	186024595	C	T	186024595	2	4	265	1	0	0	0	0	0	0	0	1	7220	668	24	2		2	HMCN1	1	186024595	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	123767552	186024595	63226026	2	10172										
CFHR1	3078	broad.mit.edu	37	chr1	196794779	196794779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	acatgcacagaagaaggatgGtcaccaacaccaaagtgtct	9	10	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.chr1:196794779G>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		Somatic				CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.W77C	p.W77C	NM_002113.2	NP_002104.2	WXS	Illumina GAIIx	Phase_I	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	13	50	---	---	---	---	T	196794779	G	T	196794779	3	4	265	1	0	0	0	0	1	0	0	0	3284	1270	44	3	237	3	CFHR1	1	196794779	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	10770184	196794779	52455842	3	10173										
OBSCN	84033	broad.mit.edu	37	chr1	228444396	228444396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	agcagccagtgcacagggagGtgcaggcccaggcgggggcc	19	12	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_ENST00000570156.2_Missense_Mutation_p.V1544L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L	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		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.V1452L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1452L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V16L|OBSCN_ENST00000366707.4_5'UTR	p.V1544L	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	15	45	---	---	---	---	T	228444396	G	T	228444396	3	4	265	1	0	0	0	0	1	0	0	0	10812	1261	44	3	4408	3	OBSCN	1	228444396	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	31649617	228444396	20806225	4	10174										
KCNS3	3790	broad.mit.edu	37	chr2	18112559	18112559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	gcatgtcatggaggagctgtGcgtattctcattctgccagg	13	9	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.chr2:18112559G>A	ENST00000403915.1	+	3	735	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	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		Somatic				KCNS3_ENST00000304101.4_Missense_Mutation_p.C95Y|KCNS3_ENST00000465292.1_Intron	p.C95Y	NM_001282428.1	NP_001269357.1	WXS	Illumina GAIIx	Phase_I	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	33	84	---	---	---	---	A	18112559	G	A	18112559	3	1	265	1	0	0	0	0	1	0	0	0	8090	1319	46	2	286	2	KCNS3	2	18112559	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		18112559	225086814	5	10175										
PSD4	23550	broad.mit.edu	37	chr2	113958986	113958986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	cctaagcggaaccgcaatcaGctgtgaagccagcaccacct	9	15	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.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																																						ENST00000441564.3																			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.(3076-3078)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			Somatic				PSD4_ENST00000245796.6_Silent_p.Q1055Q	p.Q1026Q			WXS	Illumina GAIIx	Phase_I	Q8NDX1	PSD4_HUMAN			17	3247	+								A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.3078G>A	CCDS33276.1																																																																																				0.562	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		12	24	12	24	---	---	---	---	A	113958986	G	A	113958986	2	1	265	1	0	0	0	0	0	0	0	1	12649	962	34	2		2	PSD4	2	113958986	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	95846427	113958986	129240387	6	10176										
CD14	929	broad.mit.edu	37	chr5	140012472	140012472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ggagaagttgcagacgcagcGgaaatcttcatcgtccagct	12	10	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		Somatic				CD14_ENST00000401743.2_Missense_Mutation_p.R33C	p.R33C	NM_000591.3	NP_000582.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	A	140012472	G	A	140012472	3	1	265	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	7	10177										
PCDHA4	56144	broad.mit.edu	37	chr5	140187407	140187407	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tccggagatttttttagtgcTcacagccactgatggaggca	11	9	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.chr5:140187407T>C	ENST00000530339.1	+	1	635	c.635T>C	c.(634-636)cTc>cCc	p.L212P	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA3_ENST00000522353.2_Intron|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	56144							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		Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L212P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L212P	p.L212P	NM_018907.2	NP_061730.1	WXS	Illumina GAIIx	Phase_I			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	24	62	---	---	---	---	C	140187407	T	C	140187407	3	2	265	1	0	0	0	0	1	0	0	0	11526	1551	54	2	637	2	PCDHA4	5	140187407	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	174935	140187407	40727853	8	10178										
PCDHGA12	26025	broad.mit.edu	37	chr5	140811043	140811043	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ctggatgcgaacgacaacgcAccagcgtttgctcagcccga	11	14	1	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.chr5:140811043A>G	ENST00000252085.3	+	1	859	c.717A>G	c.(715-717)gcA>gcG	p.A239A	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_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	26025							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			Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_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|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A239A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	WXS	Illumina GAIIx	Phase_I			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	14	41	---	---	---	---	G	140811043	A	G	140811043	2	3	265	1	0	0	0	0	0	0	0	1	11553	146	6	2		2	PCDHGA12	5	140811043	Silent	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	623636	140811043	40104217	9	10179										
ABCC10	89845	broad.mit.edu	37	chr6	43403887	43403887	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tctgttcagatccccctgcaGagccatctacagtattggag	9	12	3	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.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		Somatic				ABCC10_ENST00000372530.4_Missense_Mutation_p.E593Q	p.E565Q	NM_033450.2	NP_258261.2	WXS	Illumina GAIIx	Phase_I	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	42	116	---	---	---	---	C	43403887	G	C	43403887	3	2	265	1	0	0	0	0	1	0	0	0	50	943	33	4	1707	4	ABCC10	6	43403887	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		43403887	127711180	10	10180										
PKHD1	5314	broad.mit.edu	37	chr6	51935833	51935833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	cgccttccacatggcactgcAgagtcccaagaccatggtcc	9	16	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.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		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.L213P	p.L213P	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	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	18	62	---	---	---	---	G	51935833	A	G	51935833	3	3	265	1	0	0	0	0	1	0	0	0	11971	188	7	2	11861	2	PKHD1	6	51935833	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	8531946	51935833	119179234	11	10181										
PHF3	23469	broad.mit.edu	37	chr6	64422424	64422424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	gaggtctccacagtttatcaAcctgaaaagggatcctaggc	10	10	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.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		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.N1647S	p.N1647S			WXS	Illumina GAIIx	Phase_I	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	5	19	---	---	---	---	G	64422424	A	G	64422424	3	3	265	1	0	0	0	0	1	0	0	0	11836	43	2	2	4998	2	PHF3	6	64422424	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	12486591	64422424	106692643	12	10182										
SLC17A5	26503	broad.mit.edu	37	chr6	74351528	74351537	+	Frame_Shift_Del	DEL	CATTTTCCCC	CATTTTCCCC	-													0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	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_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs	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)ggggggaaaatgfs		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		Somatic				SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.GGKM134fs	p.GGKM134fs	NM_012434.4	NP_036566.1	WXS	Illumina GAIIx	Phase_I	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	265	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	13	10183										
RAET1E	135250	broad.mit.edu	37	chr6	150211114	150211114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ggtcaattctccccaagtgcTggtggcatataccttcttcc	8	13	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.chr6:150211114T>A	ENST00000357183.4	-	2	385	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E_ENST00000532335.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RAET1E-AS1_ENST00000446954.2_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		Somatic				RAET1E_ENST00000357183.4_Missense_Mutation_p.S85C|RAET1E_ENST00000367363.3_Missense_Mutation_p.S49C|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Missense_Mutation_p.S85C|RP11-244K5.8_ENST00000606915.1_RNA	p.S85C	NM_001243328.1	NP_001230257.1	WXS	Illumina GAIIx	Phase_I	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	6	47	---	---	---	---	A	150211114	T	A	150211114	3	1	265	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	14	10184										
FAM83H	286077	broad.mit.edu	37	chr8	144810218	144810218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ccgcgaagcttctcgaacagGccttgcgggcgcgccggcgt	15	15	1	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.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			Somatic					p.G471G	NM_198488.3	NP_940890	WXS	Illumina GAIIx	Phase_I	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	3	5	---	---	---	---	A	144810218	G	A	144810218	2	1	265	1	0	0	0	0	0	0	0	1	5640	1190	42	2		2	FAM83H	8	144810218	Silent	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08		144810218	1553804	15	10185										
LGI1	9211	broad.mit.edu	37	chr10	95557115	95557115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tagttcccagcgtcctgtaaTttatcagtggaacaaagcaa	8	9	1	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.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		Somatic				LGI1_ENST00000542308.1_Missense_Mutation_p.I362T|LGI1_ENST00000371413.3_Intron	p.I410T	NM_005097.2	NP_005088.1	WXS	Illumina GAIIx	Phase_I	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	22	60	---	---	---	---	C	95557115	T	C	95557115	3	2	265	1	0	0	0	0	1	0	0	0	8751	1493	52	2	1259	2	LGI1	10	95557115	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08		95557115	39977632	16	10186										
PRG2	5553	broad.mit.edu	37	chr11	57154994	57154994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ttctgaggcagtgggctcgaCgccagtggcctcctgtgaag	15	11	1	2	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_ENST00000533605.1_Missense_Mutation_p.R197H|PRG2_ENST00000525955.1_Missense_Mutation_p.R208H	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		Somatic				PRG2_ENST00000533605.1_Missense_Mutation_p.R197H|PRG2_ENST00000525955.1_Missense_Mutation_p.R208H	p.R208H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	WXS	Illumina GAIIx	Phase_I				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	12	36	---	---	---	---	T	57154994	C	T	57154994	3	4	265	1	0	0	0	0	1	0	0	0	12479	536	19	2	49	2	PRG2	11	57154994	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		57154994	77851522	17	10187										
C11orf24	53838	broad.mit.edu	37	chr11	68029279	68029279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ggagagttttgtctaccacgGcctgggtgaggggctcagtg	17	8	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.chr11:68029279G>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		Somatic				C11orf24_ENST00000533310.1_Intron	p.A395V	NM_022338.3	NP_071733.1	WXS	Illumina GAIIx	Phase_I	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	16	42	---	---	---	---	A	68029279	G	A	68029279	3	1	265	1	0	0	0	0	1	0	0	0	1635	1203	42	2	169	2	C11orf24	11	68029279	Missense_Mutation	SNP	G	TCGA-TK-A8OK-01A-22D-A364-08	10874285	68029279	66977237	18	10188										
FLI1	2313	broad.mit.edu	37	chr11	128680406	128680406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ctggagctgctctccgacagCgccaacgccagctgtatcac	10	16	2	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.chr11:128680406C>T	ENST00000527786.2	+	9	1371	c.882C>T	c.(880-882)agC>agT	p.S294S	FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000344954.6_Silent_p.S261S	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																																	ENST00000527786.2				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.(880-882)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			Somatic				FLI1_ENST00000281428.8_Silent_p.S228S|FLI1_ENST00000534087.2_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000344954.6_Silent_p.S261S	p.S294S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	WXS	Illumina GAIIx	Phase_I	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1371	+	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)						B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	c.882C>T	CCDS44768.1																																																																																				0.627	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	12	3	12	---	---	---	---	T	128680406	C	T	128680406	2	4	265	1	0	0	0	0	0	0	0	1	5924	767	27	2		2	FLI1	11	128680406	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	60651127	128680406	6326110	19	10189										
NTM	50863	broad.mit.edu	37	chr11	132016375	132016375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	cggtgcagacagacaaccacCcaaagacctctagggtccac	9	15	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.chr11:132016375C>T	ENST00000374786.1	+	2	846	c.367C>T	c.(367-369)Cca>Tca	p.P123S	NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_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		Somatic				NTM_ENST00000374784.1_Missense_Mutation_p.P123S|NTM_ENST00000374791.3_Missense_Mutation_p.P123S|NTM_ENST00000425719.2_Missense_Mutation_p.P123S|NTM_ENST00000539799.1_Missense_Mutation_p.P123S|NTM_ENST00000427481.2_Missense_Mutation_p.P114S	p.P123S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	WXS	Illumina GAIIx	Phase_I	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	11	35	---	---	---	---	T	132016375	C	T	132016375	3	4	265	1	0	0	0	0	1	0	0	0	10699	623	22	2	459	2	NTM	11	132016375	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08	3335969	132016375	2990141	20	10190										
ARID2	196528	broad.mit.edu	37	chr12	46245717	46245717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	aagtcatggagaacccgtccTgccgacgaggagccacaaac	11	13	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.chr12:46245717T>G	ENST00000334344.6	+	15	3983	c.3811T>G	c.(3811-3813)Tgc>Ggc	p.C1271G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000457135.1_5'Flank	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		Somatic				ARID2_ENST00000422737.1_Missense_Mutation_p.C1122G|ARID2_ENST00000444670.1_Missense_Mutation_p.C881G|ARID2_ENST00000479608.1_3'UTR	p.C1271G	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	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	15	21	---	---	---	---	G	46245717	T	G	46245717	3	3	265	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	21	10191										
LETMD1	25875	broad.mit.edu	37	chr12	51442945	51442945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tcatttcccccgcttctatgTcctgtacacaatcttcatga	4	14	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.chr12:51442945T>C	ENST00000262055.4	+	2	290	c.251T>C	c.(250-252)gTc>gCc	p.V84A	LETMD1_ENST00000418425.2_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000380123.2_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		Somatic				LETMD1_ENST00000262055.4_Missense_Mutation_p.V84A|LETMD1_ENST00000550929.1_Missense_Mutation_p.V28A|LETMD1_ENST00000547008.1_Missense_Mutation_p.V84A|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Missense_Mutation_p.V84A|LETMD1_ENST00000548516.1_3'UTR	p.V84A	NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	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	12	48	---	---	---	---	C	51442945	T	C	51442945	3	2	265	1	0	0	0	0	1	0	0	0	8736	1667	58	2	257	2	LETMD1	12	51442945	Missense_Mutation	SNP	T	TCGA-TK-A8OK-01A-22D-A364-08	5197228	51442945	82408950	22	10192										
STAB2	55576	broad.mit.edu	37	chr12	104136330	104136330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	gagattcgggcctgattgtcTgcgtatgtggcgccgcttct	14	10	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.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		Somatic					p.L2010R	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	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	42	115	---	---	---	---	G	104136330	T	G	104136330	3	3	265	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	23	10193										
C14orf159	80017	broad.mit.edu	37	chr14	91639708	91639708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tgaggcccattcccaaggacAagctggaagggctggtgcgg	16	10	0	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_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q|C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000518868.1_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q			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		Somatic	OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000522322.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523771.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000520328.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000523816.1_Missense_Mutation_p.K173Q|C14orf159_ENST00000412671.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000256324.10_Missense_Mutation_p.K178Q|C14orf159_ENST00000521077.2_Missense_Mutation_p.K178Q|C14orf159_ENST00000428926.2_Missense_Mutation_p.K173Q|C14orf159_ENST00000525393.2_Missense_Mutation_p.K49Q	p.K178Q			WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	C	91639708	A	C	91639708	3	2	265	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	24	10194										
ITGB4	3691	broad.mit.edu	37	chr17	73728052	73728052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	gtgatgtgtgcacctgcgagCtggtacaacgcagccccgca	13	13	0	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_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000584558.1_3'UTR	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			Somatic				ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Silent_p.L459L|ITGB4_ENST00000450894.3_Silent_p.L459L|ITGB4_ENST00000579662.1_Silent_p.L459L|ITGB4_ENST00000339591.3_Silent_p.L459L	p.L459L	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	T	73728052	C	T	73728052	2	4	265	1	0	0	0	0	0	0	0	1	7897	796	28	2		2	ITGB4	17	73728052	Silent	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		73728052	7467158	25	10195										
RANBP3	8498	broad.mit.edu	37	chr19	5923895	5923895	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tgcattttccctgttggcatCtgaactgacctcgtttaatt	7	10	1	2	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_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000591092.1_Missense_Mutation_p.D270H|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		Somatic				RANBP3_ENST00000541471.1_Missense_Mutation_p.D215H|RANBP3_ENST00000034275.8_Missense_Mutation_p.D275H|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	WXS	Illumina GAIIx	Phase_I	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	8	69	---	---	---	---	G	5923895	C	G	5923895	3	3	265	1	0	0	0	0	1	0	0	0	13029	913	32	4	700	4	RANBP3	19	5923895	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		5923895	53205088	26	10196										
NCOA6	23054	broad.mit.edu	37	chr20	33329897	33329897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	cactgttgttaggaaagctcCcaggtacagggggattggcc	14	9	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.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		Somatic				NCOA6_ENST00000359003.2_Missense_Mutation_p.G1388E	p.G1388E			WXS	Illumina GAIIx	Phase_I	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	14	40	---	---	---	---	T	33329897	C	T	33329897	3	4	265	1	0	0	0	0	1	0	0	0	10233	623	22	2	2048	2	NCOA6	20	33329897	Missense_Mutation	SNP	C	TCGA-TK-A8OK-01A-22D-A364-08		33329897	29695623	27	10197										
CHD6	84181	broad.mit.edu	37	chr20	40127969	40127969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tagatgccaggatcttctcaAtgatgtttgcatcatcttct	7	9	5	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.chr20:40127969A>G	ENST00000373233.3	-	6	1058	c.881T>C	c.(880-882)aTt>aCt	p.I294T	CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	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	84181				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		Somatic				CHD6_ENST00000309279.7_Missense_Mutation_p.I294T|CHD6_ENST00000373222.3_Missense_Mutation_p.I329T	p.I294T	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	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	8	11	---	---	---	---	G	40127969	A	G	40127969	3	3	265	1	0	0	0	0	1	0	0	0	3329	101	4	2	7394	2	CHD6	20	40127969	Missense_Mutation	SNP	A	TCGA-TK-A8OK-01A-22D-A364-08	6798072	40127969	22897551	28	10198										
ATP5J	522	broad.mit.edu	37	chr21	27101953	27101953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	ttcacttactgtcgcttagaTttgtattctctaatcttgtc	5	9	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.chr21:27101953T>G	ENST00000400093.3	-	2	844	c.153A>C	c.(151-153)aaA>aaC	p.K51N	ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000284971.3_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		Somatic				ATP5J_ENST00000400099.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400094.1_Missense_Mutation_p.K51N|ATP5J_ENST00000400090.3_Missense_Mutation_p.K51N|ATP5J_ENST00000457143.2_Missense_Mutation_p.K59N|ATP5J_ENST00000284971.3_Missense_Mutation_p.K51N|ATP5J_ENST00000400087.3_Missense_Mutation_p.K51N	p.K51N	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	WXS	Illumina GAIIx	Phase_I	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	11	29	---	---	---	---	G	27101953	T	G	27101953	3	3	265	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	29	10199										
XBP1	7494	broad.mit.edu	37	chr22	29195090	29195090	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.19184430027804	7.74698795180723	0	0.333333333333333	1	0	tgttccagctcactcattcgAgccttctttcgatctctggc	7	14	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.chr22:29195090A>C	ENST00000216037.6	-	2	351	c.279T>G	c.(277-279)gcT>gcG	p.A93A	CTA-292E10.6_ENST00000418292.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000403532.3_Silent_p.A93A|XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A	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			Somatic				XBP1_ENST00000405219.3_Silent_p.A43A|XBP1_ENST00000344347.5_Silent_p.A93A|XBP1_ENST00000403532.3_Silent_p.A93A	p.A93A	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	WXS	Illumina GAIIx	Phase_I	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	15	49	---	---	---	---	C	29195090	A	C	29195090	2	2	265	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		29195090	22109476	30	10200										
TMEM50A	23585	broad.mit.edu	37	chr1	25679432	25679432	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	ttggatctctgattgcatctAtgtggattctttttggaggt	11	5	3	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.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		Somatic				TMEM50A_ENST00000480937.1_Intron	p.M112V	NM_014313.3	NP_055128.1	WXS	Illumina GAIIx	Phase_I	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	28	51	---	---	---	---	G	25679432	A	G	25679432	3	3	266	1	0	0	0	0	1	0	0	0	16172	449	16	2	348	2	TMEM50A	1	25679432	Missense_Mutation	SNP	A	TCGA-V1-A8MF-01A-11D-A364-08		25679432	223571189	1	10201										
CD5L	922	broad.mit.edu	37	chr1	157805768	157805768	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	tttctgctggtggctcatacAaaataccactaggggttccg	10	10	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.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*		Somatic				CD5L_ENST00000484609.1_5'UTR	p.L78*	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	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	18	141	---	---	---	---	T	157805768	A	T	157805768	4	4	266	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	132126336	157805768	91444853	2	10202										
BCL11A	53335	broad.mit.edu	37	chr2	60688671	60688671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	cggacttgagcgcgctgctgGcgctgcccaccaagtcgctg	14	15	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.chr2:60688671G>A	ENST00000335712.6	-	4	1603	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V	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		Somatic				BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000359629.5_Intron	p.A459V	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	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	13	18	---	---	---	---	A	60688671	G	A	60688671	3	1	266	1	0	0	0	0	1	0	0	0	1363	1203	42	2	1241	2	BCL11A	2	60688671	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		60688671	182510702	3	10203										
LRP1B	53353	broad.mit.edu	37	chr2	141458086	141458086	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	cctcaggcaagtaactccatCttctgccaaatatccatggg	7	13	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.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)	Somatic					p.D2178Y	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	32	89	---	---	---	---	A	141458086	C	A	141458086	3	1	266	1	0	0	0	0	1	0	0	0	8955	913	32	3	7471	3	LRP1B	2	141458086	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	80769415	141458086	101741287	4	10204										
G6PC2	57818	broad.mit.edu	37	chr2	169758016	169758016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	cagttggaaccaagatgataTgggtagcagtcattggggat	14	5	1	2	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_ENST00000421979.1_Missense_Mutation_p.W59R|G6PC2_ENST00000429379.2_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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	25	36	---	---	---	---	C	169758016	T	C	169758016	3	2	266	1	0	0	0	0	1	0	0	0	6144	1464	51	2	177	2	G6PC2	2	169758016	Missense_Mutation	SNP	T	TCGA-V1-A8MF-01A-11D-A364-08	28299930	169758016	73441357	5	10205										
TTN	7273	broad.mit.edu	37	chr2	179539084	179539086	+	In_Frame_Del	DEL	TTC	TTC	-													0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	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_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_In_Frame_Del_p.E11555del			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)gaadel		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		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.E11555del	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	266	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	6	10206										
COL4A4	1286	broad.mit.edu	37	chr2	227973563	227973563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	gcctaccttcaaacctggacGccctggttggcccggaggtc	12	15	1	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.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		Somatic				COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	p.R227C	NM_000092.4	NP_000083.3	WXS	Illumina GAIIx	Phase_I	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	9	24	---	---	---	---	A	227973563	G	A	227973563	3	1	266	1	0	0	0	0	1	0	0	0	3693	1087	38	2	4545	2	COL4A4	2	227973563	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	48434479	227973563	15225810	7	10207										
LRRFIP1	9208	broad.mit.edu	37	chr2	238683013	238683013	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	ccttttaggtaataaggttaGagagtcaagtatcacgttac	9	6	2	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.chr2:238683013G>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		Somatic					p.E574Q	NM_001137550.1	NP_001131022.1	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	C	238683013	G	C	238683013	3	2	266	1	0	0	0	0	1	0	0	0	9027	943	33	4	3422	4	LRRFIP1	2	238683013	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08	10709450	238683013	4516360	8	10208										
ANAPC4	29945	broad.mit.edu	37	chr4	25393993	25393993	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	tgttgtactctttcttacctGaagtaactcggatggccaga	9	9	2	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.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*		Somatic				ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	p.E247*	NM_013367.2	NP_037499.2	WXS	Illumina GAIIx	Phase_I	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	15	72	---	---	---	---	T	25393993	G	T	25393993	4	4	266	1	0	0	0	0	0	1	0	0	604	1291	45	3	773	3	ANAPC4	4	25393993	Nonsense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		25393993	165760283	9	10209										
RGS7BP	401190	broad.mit.edu	37	chr5	63890653	63890653	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	atagtcagcaacattcctggCaggtttccacagacattgag	9	10	1	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.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*		Somatic					p.Q194*	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	WXS	Illumina GAIIx	Phase_I	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	13	33	---	---	---	---	T	63890653	C	T	63890653	4	4	266	1	0	0	0	0	0	1	0	0	13311	711	25	2	594	2	RGS7BP	5	63890653	Nonsense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		63890653	117024607	10	10210										
PCDHAC1	56135	broad.mit.edu	37	chr5	140308857	140308857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	taggactgaatttgccaataTcctgtattcagattcggaat	8	7	1	2	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	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_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	56135							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		Somatic				PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.S794T	NM_018898.3	NP_061721.2	WXS	Illumina GAIIx	Phase_I			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	24	64	---	---	---	---	A	140308857	T	A	140308857	3	1	266	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	11	10211										
LINGO2	158038	broad.mit.edu	37	chr9	27948877	27948877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	ttttcatgttgaacctcctgGgtccagctacctccccttcc	6	16	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.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		Somatic				LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	p.P598H	NM_152570.2	NP_689783.1	WXS	Illumina GAIIx	Phase_I	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	27	70	---	---	---	---	T	27948877	G	T	27948877	3	4	266	1	0	0	0	0	1	0	0	0	8815	1232	43	1	31	1	LINGO2	9	27948877	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		27948877	113264554	12	10212										
SVEP1	79987	broad.mit.edu	37	chr9	113208175	113208175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	gttatcaactgcataggagaTtggtgttccatagttcatgt	10	6	2	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.chr9:113208175T>C	ENST00000401783.2	-	26	4741	c.4405A>G	c.(4405-4407)Atc>Gtc	p.I1469V	SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V|SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR	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		Somatic				SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	p.I1469V	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	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	18	49	---	---	---	---	C	113208175	T	C	113208175	3	2	266	1	0	0	0	0	1	0	0	0	15417	1493	52	2	6402	2	SVEP1	9	113208175	Missense_Mutation	SNP	T	TCGA-V1-A8MF-01A-11D-A364-08	85259298	113208175	28005256	13	10213										
DNA2	1763	broad.mit.edu	37	chr10	70231685	70231685	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	aaccgggggtaacacagaaaGcttagaaaagggaaaaaggc	13	6	0	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		Somatic				DNA2_ENST00000399179.2_5'UTR	p.S65S			WXS	Illumina GAIIx	Phase_I	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	6	20	---	---	---	---	A	70231685	G	A	70231685	1	1	266	0	1	0	0	0	0	0	0	0	4596	962	34	2		2	DNA2	10	70231685	5'Flank	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		70231685	65303062	14	10214										
OR51S1	119692	broad.mit.edu	37	chr11	4870309	4870309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	atttcccagtgcagagagaaGgtagacagcaatgaggggca	14	7	0	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.chr11:4870309G>A	ENST00000322101.2	-	1	205	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_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		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L44F	NM_001004758.1	NP_001004758.1	WXS	Illumina GAIIx	Phase_I	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	7	41	---	---	---	---	A	4870309	G	A	4870309	3	1	266	1	0	0	0	0	1	0	0	0	11105	1000	35	2	844	2	OR51S1	11	4870309	Missense_Mutation	SNP	G	TCGA-V1-A8MF-01A-11D-A364-08		4870309	130136207	15	10215										
OR51A7	119687	broad.mit.edu	37	chr11	4928816	4928816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	tggctgtctctgacatgggcCtgtccctctcctcccttcct	8	17	2	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_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_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			Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L73L	NM_001004749.1	NP_001004749.1	WXS	Illumina GAIIx	Phase_I	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	30	58	---	---	---	---	T	4928816	C	T	4928816	2	4	266	1	0	0	0	0	0	0	0	1	11088	680	24	2		2	OR51A7	11	4928816	Silent	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08	58507	4928816	130077700	16	10216										
OR52H1	390067	broad.mit.edu	37	chr11	5566336	5566336	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	gggagtcaagatggtggtatAtctcaagggagaacagatag	15	4	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.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		Somatic				HBG2_ENST00000380259.2_Intron	p.Y140N	NM_001005289.1	NP_001005289.1	WXS	Illumina GAIIx	Phase_I	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	14	27	---	---	---	---	T	5566336	A	T	5566336	3	4	266	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	17	10217										
LTBP2	4053	broad.mit.edu	37	chr14	74989505	74989505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	gtgaatacctgtgcagtaggCctggctggggtgcagctggt	17	8	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.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		Somatic				LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	p.A883T	NM_000428.2	NP_000419.1	WXS	Illumina GAIIx	Phase_I	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	8	25	---	---	---	---	T	74989505	C	T	74989505	3	4	266	1	0	0	0	0	1	0	0	0	9074	739	26	2	2902	2	LTBP2	14	74989505	Missense_Mutation	SNP	C	TCGA-V1-A8MF-01A-11D-A364-08		74989505	32360035	18	10218										
HDAC10	83933	broad.mit.edu	37	chr22	50684778	50684779	+	Frame_Shift_Ins	INS	-	-	C													0.0526315789473684	1	1	0.917553191489362	7.34042553191489	0	1	1	0	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	HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	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)ggcfs		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		Somatic				HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.G533fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	WXS	Illumina GAIIx	Phase_I	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	266	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	19	10219										
KDM1A	23028	broad.mit.edu	37	chr1	23376958	23376958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	agcagcctgttttccagataTtatcagtggaccacaacaga	8	10	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.chr1:23376958T>C	ENST00000356634.3	+	3	745	c.596T>C	c.(595-597)aTt>aCt	p.I199T	KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T|KDM1A_ENST00000400181.4_Missense_Mutation_p.I219T|RP1-184J9.2_ENST00000427154.1_RNA	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		Somatic				KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|RP1-184J9.2_ENST00000427154.1_RNA	p.I219T	NM_001009999.2	NP_001009999.1	WXS	Illumina GAIIx	Phase_I	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	5	44	---	---	---	---	C	23376958	T	C	23376958	3	2	267	1	0	0	0	0	1	0	0	0	8122	1493	52	2	670	2	KDM1A	1	23376958	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08		23376958	225873663	1	10220										
CDC7	8317	broad.mit.edu	37	chr1	91977213	91977213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	gaagaatgatcatgtagttaTtgctatgccatatctggagc	10	6	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.chr1:91977213T>C	ENST00000428239.1	+	5	654	c.395T>C	c.(394-396)aTt>aCt	p.I132T	CDC7_ENST00000430031.2_Missense_Mutation_p.I104T|CDC7_ENST00000234626.6_Missense_Mutation_p.I132T	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		Somatic				CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T	p.I132T	NM_001134420.1	NP_001127892.1	WXS	Illumina GAIIx	Phase_I	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	5	82	---	---	---	---	C	91977213	T	C	91977213	3	2	267	1	0	0	0	0	1	0	0	0	3084	1493	52	2	409	2	CDC7	1	91977213	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08	68600255	91977213	157273408	2	10221										
APOB	338	broad.mit.edu	37	chr2	21249774	21249774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	ttgttgacactgtctgggaaAaatccttgcttcccaaaaag	8	9	1	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.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			Somatic				APOB_ENST00000399256.4_Silent_p.F710F	p.F710F	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	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	9	42	---	---	---	---	G	21249774	A	G	21249774	2	3	267	1	0	0	0	0	0	0	0	1	785	11	1	2		2	APOB	2	21249774	Silent	SNP	A	TCGA-V1-A8MG-01A-11D-A364-08		21249774	221949599	3	10222										
IMP4	92856	broad.mit.edu	37	chr2	131103658	131103658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	ccaccgggtcatcaccttcgCaaaccaggacgactacatat	7	15	2	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.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		Somatic				IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	p.A221V	NM_033416.1	NP_219484.1	WXS	Illumina GAIIx	Phase_I	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	7	22	---	---	---	---	T	131103658	C	T	131103658	3	4	267	1	0	0	0	0	1	0	0	0	7720	710	25	2	688	2	IMP4	2	131103658	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	109853884	131103658	112095715	4	10223										
LRP1B	53353	broad.mit.edu	37	chr2	141571318	141571318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	ccaggttgcatctatttatgGttccattccctgaactgatc	7	11	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.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)	Somatic					p.T1756I	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	A	141571318	G	A	141571318	3	1	267	1	0	0	0	0	1	0	0	0	8955	1261	44	2	8772	2	LRP1B	2	141571318	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08	10467660	141571318	101628055	5	10224										
PER2	8864	broad.mit.edu	37	chr2	239157852	239157852	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cttcaaaaccgcttctaaatTtcttcgcaagatatttagaa	4	9	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.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.(3469-3471)Aat>Cat		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			Somatic				PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	p.N1157H	NM_022817.2	NP_073728.1	WXS	Illumina GAIIx	Phase_I	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.3469A>C	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	3	71	---	---	---	---	G	239157852	T	G	239157852	5	3	267	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	6	10225										
IGSF10	285313	broad.mit.edu	37	chr3	151164494	151164494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	atgggactctagcaatgtcaGctttggggaaggtgatggga	16	5	2	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.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		Somatic					p.A1092V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina GAIIx	Phase_I	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	10	81	---	---	---	---	A	151164494	G	A	151164494	3	1	267	1	0	0	0	0	1	0	0	0	7597	971	34	2	4656	2	IGSF10	3	151164494	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		151164494	46857936	7	10226										
PRDM5	11107	broad.mit.edu	37	chr4	121702371	121702371	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cacacctatacttcttgtgtCtttcatgaaccacctggaca	5	13	3	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.chr4:121702371C>T	ENST00000264808.3	-	12	1610	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_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		Somatic				PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K	p.R457K	NM_018699.2	NP_061169.2	WXS	Illumina GAIIx	Phase_I	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	11	41	---	---	---	---	T	121702371	C	T	121702371	3	4	267	1	0	0	0	0	1	0	0	0	12460	913	32	2	542	2	PRDM5	4	121702371	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		121702371	69451905	8	10227										
C6	729	broad.mit.edu	37	chr5	41201771	41201771	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	gtctcctgcttgctgcaaatCtgttcacaaaagttttcctg	7	11	3	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.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		Somatic				C6_ENST00000337836.5_Missense_Mutation_p.Q63H	p.Q63H	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	G	41201771	C	G	41201771	3	3	267	1	0	0	0	0	1	0	0	0	2315	912	32	4	2679	4	C6	5	41201771	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		41201771	139713489	9	10228										
GPR98	84059	broad.mit.edu	37	chr5	89981695	89981695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	gaactcttcagctctcagcaCcaattgtccgagtggcagaa	9	12	3	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.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		Somatic					p.P2125S	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	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	3	16	---	---	---	---	T	89981695	C	T	89981695	3	4	267	1	0	0	0	0	1	0	0	0	6721	507	18	2	6487	2	GPR98	5	89981695	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	48779924	89981695	90933565	10	10229										
FAM71B	153745	broad.mit.edu	37	chr5	156590508	156590508	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	gctgctcctccttcagcagcCcctggagtgctcgtggatgg	13	14	1	0	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			Somatic					p.G256G	NM_130899.2	NP_570969.2	WXS	Illumina GAIIx	Phase_I	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	7	48	---	---	---	---	G	156590508	C	G	156590508	2	3	267	1	0	0	0	0	0	0	0	1	5608	610	22	4		4	FAM71B	5	156590508	Silent	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	66608813	156590508	24324752	11	10230										
RSPO3	84870	broad.mit.edu	37	chr6	127471649	127471649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	tggattttacttacaccttgGaaagtgccttgacaattgcc	8	9	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.chr6:127471649G>A	ENST00000356698.4	+	3	957	c.368G>A	c.(367-369)gGa>gAa	p.G123E	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E	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		Somatic				RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR	p.G123E	NM_032784.3	NP_116173.2	WXS	Illumina GAIIx	Phase_I	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	4	51	---	---	---	---	A	127471649	G	A	127471649	3	1	267	1	0	0	0	0	1	0	0	0	13711	1174	41	2	378	2	RSPO3	6	127471649	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		127471649	43643418	12	10231										
HAS2	3037	broad.mit.edu	37	chr8	122626638	122626638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cccacccagctttgtttattGttgcaattgcaaacatcttg	6	11	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.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		Somatic					p.T457I	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	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	9	216	---	---	---	---	A	122626638	G	A	122626638	3	1	267	1	0	0	0	0	1	0	0	0	6962	1377	48	2	292	2	HAS2	8	122626638	Missense_Mutation	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		122626638	23737384	13	10232										
TOPORS	10210	broad.mit.edu	37	chr9	32541842	32541842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cattatctccatggtgtttcTtatgcttcttcttatgtttc	5	9	4	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.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		Somatic				TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	p.K894R	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	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	19	94	---	---	---	---	C	32541842	T	C	32541842	3	2	267	1	0	0	0	0	1	0	0	0	16367	1609	56	2	460	2	TOPORS	9	32541842	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08		32541842	108671589	14	10233										
SEMA4D	10507	broad.mit.edu	37	chr9	91994252	91994252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	gacaaggtgggggccactacGggctttggaaccaccttcac	13	12	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.chr9:91994252G>A	ENST00000450295.1	-	16	2732	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000422704.2_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			Somatic				SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron	p.P652P			WXS	Illumina GAIIx	Phase_I	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	8	137	---	---	---	---	A	91994252	G	A	91994252	2	1	267	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	15	10234										
ABCA1	19	broad.mit.edu	37	chr9	107547843	107547843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cacttccaggaaatgcaagtCcaaagaaatcctggacaggc	9	11	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.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		Somatic					p.G2160E	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	T	107547843	C	T	107547843	3	4	267	1	0	0	0	0	1	0	0	0	28	855	30	2	314	2	ABCA1	9	107547843	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	15553591	107547843	33665588	16	10235										
KCNC1	3746	broad.mit.edu	37	chr11	17793787	17793787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	cccagcgccagtgagcacacGcactttaagaacatccccat	7	16	0	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			Somatic				KCNC1_ENST00000265969.6_Silent_p.T382T	p.T382T	NM_004976.4	NP_004967.1	WXS	Illumina GAIIx	Phase_I	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	3	37	---	---	---	---	A	17793787	G	A	17793787	2	1	267	1	0	0	0	0	0	0	0	1	8014	1074	38	2		2	KCNC1	11	17793787	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		17793787	117212729	17	10236										
MTMR2	8898	broad.mit.edu	37	chr11	95571268	95571268	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	catattttacctcttttcctCtctgttgttcactattacag	3	11	3	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.chr11:95571268C>G	ENST00000346299.5	-	13	1923	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	RNA5SP345_ENST00000410646.1_RNA|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000393223.3_Missense_Mutation_p.R456T|MTMR2_ENST00000352297.7_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		Somatic				MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T	p.R456T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	WXS	Illumina GAIIx	Phase_I	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	6	53	---	---	---	---	G	95571268	C	G	95571268	3	3	267	1	0	0	0	0	1	0	0	0	9944	913	32	4	360	4	MTMR2	11	95571268	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08	77777481	95571268	39435248	18	10237										
FAM155A	728215	broad.mit.edu	37	chr13	108518235	108518235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	aagtgttgggactggacaacCccgagaacaactcccaaagt	10	11	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.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		Somatic					p.G237E	NM_001080396.2	NP_001073865.1	WXS	Illumina GAIIx	Phase_I	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	3	49	---	---	---	---	T	108518235	C	T	108518235	3	4	267	1	0	0	0	0	1	0	0	0	5465	623	22	2	678	2	FAM155A	13	108518235	Missense_Mutation	SNP	C	TCGA-V1-A8MG-01A-11D-A364-08		108518235	6651643	19	10238										
DAPK3	1613	broad.mit.edu	37	chr19	3964647	3964647	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	accttcaggtcaaagtgtgcGatgcgcttagagtgcaggta	13	8	2	1	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			Somatic				DAPK3_ENST00000301264.3_Silent_p.I135I	p.I135I			WXS	Illumina GAIIx	Phase_I	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	13	74	---	---	---	---	T	3964647	G	T	3964647	2	4	267	1	0	0	0	0	0	0	0	1	4237	1048	37	3		3	DAPK3	19	3964647	Silent	SNP	G	TCGA-V1-A8MG-01A-11D-A364-08		3964647	55164336	20	10239										
ZNF558	148156	broad.mit.edu	37	chr19	8931882	8931882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	aggccaggttcctgcagttcTccagcatcacatccctgtac	8	15	2	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.chr19:8931882T>C	ENST00000601372.1	-	7	932	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G|CTD-2529P6.3_ENST00000594006.1_RNA			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		Somatic				ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G	p.E74G			WXS	Illumina GAIIx	Phase_I	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	4	28	---	---	---	---	C	8931882	T	C	8931882	3	2	267	1	0	0	0	0	1	0	0	0	17986	1551	54	2	1003	2	ZNF558	19	8931882	Missense_Mutation	SNP	T	TCGA-V1-A8MG-01A-11D-A364-08	4967235	8931882	50197101	21	10240										
TLR8	51311	broad.mit.edu	37	chrX	12937492	12937492	+	Frame_Shift_Del	DEL	A	A	-													0.136363636363636	3	1	1.63342318059299	5.08176100628931	0.692967409948542	1	1	0	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)tcafs		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		Somatic				TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	p.S111fs	NM_138636.4	NP_619542.1	WXS	Illumina GAIIx	Phase_I	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	267	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		12937492	142333068	22	10241										
SYNC	81493	broad.mit.edu	37	chr1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	tcttctgttgctggagttgcAccccatttcttaactgcctc	7	13	3	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.chr1:33149934A>G	ENST00000409190.3	-	3	1741	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	SYNC_ENST00000373484.3_Missense_Mutation_p.V428A|RBBP4_ENST00000373493.5_3'UTR	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		Somatic				SYNC_ENST00000409190.3_Missense_Mutation_p.V428A|RBBP4_ENST00000373493.5_3'UTR	p.V428A	NM_001161708.1	NP_001155180	WXS	Illumina GAIIx	Phase_I	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	6	81	---	---	---	---	G	33149934	A	G	33149934	3	3	268	1	0	0	0	0	1	0	0	0	15440	159	6	2	239	2	SYNC	1	33149934	Missense_Mutation	SNP	A	TCGA-V1-A8MJ-01A-11D-A364-08		33149934	216100687	1	10242										
TOR3A	64222	broad.mit.edu	37	chr1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	ccagggctgcaagtctatttCccagaggattaactacttcc	8	12	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.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		Somatic				TOR3A_ENST00000352445.6_Intron	p.S389F	NM_022371.3	NP_071766.2	WXS	Illumina GAIIx	Phase_I	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	8	131	---	---	---	---	T	179064325	C	T	179064325	3	4	268	1	0	0	0	0	1	0	0	0	16373	855	30	2	1188	2	TOR3A	1	179064325	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	145914391	179064325	70186296	2	10243										
SP3	6670	broad.mit.edu	37	chr2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gcctgtgaaaccaatttgaaCctgctgaccatctgctgact	8	12	1	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.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F|SP3_ENST00000483084.1_5'Flank	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	29	159	---	---	---	---	A	174820690	C	A	174820690	3	1	268	1	0	0	0	0	1	0	0	0	14965	507	18	3	1811	3	SP3	2	174820690	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		174820690	68378683	3	10244										
TTN	7273	broad.mit.edu	37	chr2	179403722	179403722	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gaagcagggctggtctcactCaggccaacatcattctgtgc	11	12	4	0	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_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.L32980L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_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			Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.L32980L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	7	31	---	---	---	---	T	179403722	C	T	179403722	2	4	268	1	0	0	0	0	0	0	0	1	16732	813	29	2		2	TTN	2	179403722	Silent	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	4583032	179403722	63795651	4	10245										
C4orf19	55286	broad.mit.edu	37	chr4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gatccatgggagccctgctgGcctcaccaagggccgctccc	12	17	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	C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C	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		Somatic				C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	p.W78C	NM_018302.2	NP_060772.2	WXS	Illumina GAIIx	Phase_I	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	6	27	---	---	---	---	C	37591911	G	C	37591911	3	2	268	1	0	0	0	0	1	0	0	0	2253	1212	42	4	240	4	C4orf19	4	37591911	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08		37591911	153562365	5	10246										
EMCN	51705	broad.mit.edu	37	chr4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	taactggtattgaggttaatGtaccagttttagaaggtgat	11	3	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.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		Somatic				EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	p.T153R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	C	101344519	G	C	101344519	3	2	268	1	0	0	0	0	1	0	0	0	5086	1377	48	4	351	4	EMCN	4	101344519	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	63752608	101344519	89809757	6	10247										
FAT4	79633	broad.mit.edu	37	chr4	126411435	126411435	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	aaagctggaagtcctgcgggGcatgtctgtgttctgagtca	14	8	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.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			Somatic				FAT4_ENST00000335110.5_Silent_p.G2727G	p.G4486G	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	C	126411435	G	C	126411435	2	2	268	1	0	0	0	0	0	0	0	1	5692	1190	42	4		4	FAT4	4	126411435	Silent	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	25066916	126411435	64742841	7	10248										
SLC30A8	169026	broad.mit.edu	37	chr8	118169934	118169934	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gtgtttgaattcctagagatCcttggtgccctgctctccat	9	11	1	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.chr8:118169934C>T	ENST00000456015.2	+	4	423	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000427715.2_Silent_p.I92I|SLC30A8_ENST00000521243.1_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			Somatic				SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I|SLC30A8_ENST00000519688.1_Silent_p.I92I	p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	WXS	Illumina GAIIx	Phase_I	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	13	103	---	---	---	---	T	118169934	C	T	118169934	2	4	268	1	0	0	0	0	0	0	0	1	14561	845	30	2		2	SLC30A8	8	118169934	Silent	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		118169934	28194088	8	10249										
OR8H2	390151	broad.mit.edu	37	chr11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	ctgggccttatgtgattggcTttatagactcctttgtcaac	9	9	1	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.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)	Somatic					p.F153L	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	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	14	97	---	---	---	---	C	55872975	T	C	55872975	3	2	268	1	0	0	0	0	1	0	0	0	11238	1609	56	2	459	2	OR8H2	11	55872975	Missense_Mutation	SNP	T	TCGA-V1-A8MJ-01A-11D-A364-08		55872975	79133541	9	10250										
OR5M1	390168	broad.mit.edu	37	chr11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	cgatgaagagaagacactgtGtgaagcatccagcgtaggag	14	7	0	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.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		Somatic					p.T99I	NM_001004740.1	NP_001004740.1	WXS	Illumina GAIIx	Phase_I	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	4	42	---	---	---	---	A	56380683	G	A	56380683	3	1	268	1	0	0	0	0	1	0	0	0	11172	1377	48	2	655	2	OR5M1	11	56380683	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	507708	56380683	78625833	10	10251										
RPH3A	22895	broad.mit.edu	37	chr12	113307699	113307699	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	ttcatgctcttctttccaggCcctgacccagcctctgctcc	6	18	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.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G	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.(649-651)ggC>ggA		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			Somatic				RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000549913.2_3'UTR	p.G217G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	WXS	Illumina GAIIx	Phase_I	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1148	+			217			Pro-rich.		B7Z3C3|Q96AE0	Splice_Site	SNP	ENST00000389385.4	37	c.651C>A	CCDS44979.1																																																																																				0.547	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	Silent	7	38	7	38	---	---	---	---	A	113307699	C	A	113307699	5	1	268	1	0	0	0	0	0	0	1	0	13551	753	26	3	681	3	RPH3A	12	113307699	Splice_Site	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08		113307699	20544196	11	10252										
DNAH3	55567	broad.mit.edu	37	chr16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	caatgaactcccggaccgctGgcaccattttgtcaggccgc	10	15	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.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		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.P3486L	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	A	20974749	G	A	20974749	3	1	268	1	0	0	0	0	1	0	0	0	4603	1348	47	2	1932	2	DNAH3	16	20974749	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08		20974749	69380004	12	10253										
ITGAX	3687	broad.mit.edu	37	chr16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	caaggaaatgatggaggaggCaaatggacaaattgccccag	13	7	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.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		Somatic				ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	p.A1144E	NM_000887.3	NP_000878.2	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	A	31393167	C	A	31393167	3	1	268	1	0	0	0	0	1	0	0	0	7889	710	25	3	3549	3	ITGAX	16	31393167	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	10418418	31393167	58961586	13	10254										
MUC16	94025	broad.mit.edu	37	chr19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gtgacttcagtgatggccagTatttcagctgaggtgctgct	13	8	2	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		Somatic					p.I9210M	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	3	42	---	---	---	---	C	9059816	T	C	9059816	3	2	268	1	0	0	0	0	1	0	0	0	9973	1628	57	2	16221	2	MUC16	19	9059816	Missense_Mutation	SNP	T	TCGA-V1-A8MJ-01A-11D-A364-08		9059816	50069167	14	10255										
C19orf39	126074	broad.mit.edu	37	chr19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	tttccggctcctgtgctctgCccatgaggccccggggccag	13	16	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.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		Somatic					p.A82D	NM_175871.3	NP_787067.2	WXS	Illumina GAIIx	Phase_I	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	4	108	---	---	---	---	A	11486247	C	A	11486247	3	1	268	1	0	0	0	0	1	0	0	0	1922	739	26	3	251	3	C19orf39	19	11486247	Missense_Mutation	SNP	C	TCGA-V1-A8MJ-01A-11D-A364-08	2426431	11486247	47642736	15	10256										
NLRP12	91662	broad.mit.edu	37	chr19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	gttgacacattcccctaggcGcgcattgcggtcttccatga	10	13	1	2	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_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_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		Somatic				NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C	p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina GAIIx	Phase_I	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	13	77	---	---	---	---	A	54314477	G	A	54314477	3	1	268	1	0	0	0	0	1	0	0	0	10474	1087	38	2	2877	2	NLRP12	19	54314477	Missense_Mutation	SNP	G	TCGA-V1-A8MJ-01A-11D-A364-08	42828230	54314477	4814506	16	10257										
CECR2	27443	broad.mit.edu	37	chr22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831111111111111	0	1.24666666666667	1	1	0	atcccctgcattgtggtgggAcacccagccaggcacccttt	10	15	0	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.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																																						ENST00000400573.5																			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.(1786-1788)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		Somatic				CECR2_ENST00000262608.8_Missense_Mutation_p.T597A|CECR2_ENST00000400585.2_Missense_Mutation_p.T455A	p.T596A			WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	14	1793	+		all_epithelial(15;0.139)						A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1786A>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	4	36	---	---	---	---	G	18020457	A	G	18020457	3	3	268	1	0	0	0	0	1	0	0	0	3206	275	10	2	1838	2	CECR2	22	18020457	Missense_Mutation	SNP	A	TCGA-V1-A8MJ-01A-11D-A364-08		18020457	33284109	17	10258										
MANEAL	149175	broad.mit.edu	37	chr1	38261411	38261411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	ctctgtgttgcgtctcaggcGtcctggtcctgtcctggtac	12	13	2	0	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_ENST00000397631.3_Missense_Mutation_p.V185I|MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR	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		Somatic				MANEAL_ENST00000525897.1_5'UTR|MANEAL_ENST00000329006.5_5'UTR|MANEAL_ENST00000397631.3_Missense_Mutation_p.V185I	p.V185I	NM_001113482.1	NP_001106954.1	WXS	Illumina GAIIx	Phase_I	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	17	64	---	---	---	---	A	38261411	G	A	38261411	3	1	269	1	0	0	0	0	1	0	0	0	9222	1145	40	2	559	2	MANEAL	1	38261411	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		38261411	210989210	1	10259										
ASH1L	55870	broad.mit.edu	37	chr1	155349888	155349889	+	Frame_Shift_Ins	INS	-	-	T													0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	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		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.K2041fs	p.K2046fs			WXS	Illumina GAIIx	Phase_I	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	269	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	10260										
CAD	790	broad.mit.edu	37	chr2	27445189	27445189	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	aatgcccgccccctggtaccAgaggtctccattaaggtaca	9	14	1	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.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			Somatic				CAD_ENST00000403525.1_Silent_p.P160P	p.P160P	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	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	10	53	---	---	---	---	G	27445189	A	G	27445189	2	3	269	1	0	0	0	0	0	0	0	1	2565	175	7	2		2	CAD	2	27445189	Silent	SNP	A	TCGA-V1-A8ML-01A-11D-A377-08		27445189	215754184	3	10261										
FSIP2	401024	broad.mit.edu	37	chr2	186671327	186671327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	agaggagattaaaagtgaacCcagtaaaccagatgatcctc	9	8	0	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.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		Somatic				FSIP2_ENST00000424728.1_Missense_Mutation_p.P5765L	p.P5854L	NM_173651.2	NP_775922.2	WXS	Illumina GAIIx	Phase_I					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	3	62	---	---	---	---	T	186671327	C	T	186671327	3	4	269	1	0	0	0	0	1	0	0	0	6075	623	22	2	17627	2	FSIP2	2	186671327	Missense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	159226138	186671327	56528046	4	10262										
FRYL	285527	broad.mit.edu	37	chr4	48567706	48567706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	aaaaatacttcttctctggtGcactgtgaataaaaaaagat	6	6	2	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.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_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.H1058Y			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		Somatic				FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000503238.1_Missense_Mutation_p.H1058Y|FRYL_ENST00000358350.4_Missense_Mutation_p.H1058Y	p.H1058Y			WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	A	48567706	G	A	48567706	3	1	269	1	0	0	0	0	1	0	0	0	6064	1319	46	2	6013	2	FRYL	4	48567706	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		48567706	142586570	5	10263										
PRPS1L1	221823	broad.mit.edu	37	chr7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	tgcaacaagcttggcagagaTtggggaccggctcttatcct	12	10	1	1	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		Somatic					p.I107V	NM_175886.2	NP_787082	WXS	Illumina GAIIx	Phase_I	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	4	118	---	---	---	---	C	18067087	T	C	18067087	3	2	269	1	0	0	0	0	1	0	0	0	12579	1493	52	2	641	2	PRPS1L1	7	18067087	Missense_Mutation	SNP	T	TCGA-V1-A8ML-01A-11D-A377-08		18067087	141071576	6	10264										
NCOA4	8031	broad.mit.edu	37	chr10	51584630	51584630	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	gtgtagacttcttccagagcCtgcaatttcttcaataatgt	7	9	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.chr10:51584630C>G	ENST00000443446.1	+	8	958	c.729C>G	c.(727-729)gcC>gcG	p.A243A	NCOA4_ENST00000452682.1_Silent_p.A259A|NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A	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			Somatic				NCOA4_ENST00000414907.2_Silent_p.A77A|NCOA4_ENST00000374082.1_Silent_p.A243A|NCOA4_ENST00000374087.4_Silent_p.A243A|NCOA4_ENST00000430396.2_Silent_p.A143A|NCOA4_ENST00000438493.1_Silent_p.A259A|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Silent_p.A243A|NCOA4_ENST00000344348.6_Silent_p.A243A	p.A259A	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	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	9	92	---	---	---	---	G	51584630	C	G	51584630	2	3	269	1	0	0	0	0	0	0	0	1	10231	668	24	4		4	NCOA4	10	51584630	Silent	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08		51584630	83950117	7	10265			1	21		2	2	72	C		3.210878e-05
NCOA4	8031	broad.mit.edu	37	chr10	51584701	51584701	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	gctcctcaagagtgaaaaatCaagttatcaaaagtgtaaca	7	7	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.chr10:51584701C>G	ENST00000443446.1	+	8	1029	c.800C>G	c.(799-801)tCa>tGa	p.S267*	NCOA4_ENST00000452682.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*	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*		Somatic				NCOA4_ENST00000414907.2_Nonsense_Mutation_p.S101*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.S267*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.S167*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.S283*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.S267*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.S267*	p.S283*	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	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	13	119	---	---	---	---	G	51584701	C	G	51584701	4	3	269	1	0	0	0	0	0	1	0	0	10231	838	29	4	878	4	NCOA4	10	51584701	Nonsense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	71	51584701	83950046	8	10266			1	21		2	2	72	C		3.210878e-05
FAM13C	220965	broad.mit.edu	37	chr10	61011334	61011334	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	aatctctctgccgacacataCcttcctgtttgtttaaaaaa	4	11	2	0	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_ENST00000435852.2_Silent_p.R545R|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000373867.3_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000442566.3_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			Somatic				FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000277705.6_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site|FAM13C_ENST00000442566.3_Splice_Site|FAM13C_ENST00000435852.2_Silent_p.R545R		NM_001166698.1	NP_001160170.1	WXS	Illumina GAIIx	Phase_I	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	6	149	---	---	---	---	T	61011334	C	T	61011334	5	4	269	1	0	0	0	0	0	0	1	0	5454	521	18	2	130	2	FAM13C	10	61011334	Splice_Site	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08	9426633	61011334	74523413	9	10267										
RIC3	79608	broad.mit.edu	37	chr11	8159870	8159870	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	agtatagcatttcccatcctCtgcagttgttttcccctttg	6	12	1	0			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_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E126K|RIC3_ENST00000425599.2_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		Somatic				RIC3_ENST00000539720.1_Missense_Mutation_p.E77K|RIC3_ENST00000309737.6_Missense_Mutation_p.E126K|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Missense_Mutation_p.E126K	p.E126K	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	WXS	Illumina GAIIx	Phase_I	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	38	159	---	---	---	---	T	8159870	C	T	8159870	3	4	269	1	0	0	0	0	1	0	0	0	13354	922	32	2	746	2	RIC3	11	8159870	Missense_Mutation	SNP	C	TCGA-V1-A8ML-01A-11D-A377-08		8159870	126846646	10	10268										
EML3	256364	broad.mit.edu	37	chr11	62375178	62375178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	gggtaagggtcccattcccaGgaacccctactccaccactc	8	17	0	0			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	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000438258.1_Intron|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000531557.1_Missense_Mutation_p.P224L|EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L	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		Somatic				EML3_ENST00000278845.4_Missense_Mutation_p.P442L|EML3_ENST00000494176.2_Missense_Mutation_p.P413L|EML3_ENST00000529309.1_Missense_Mutation_p.P441L|EML3_ENST00000438258.1_Intron|EML3_ENST00000531557.1_Missense_Mutation_p.P224L	p.P441L	NM_153265.2	NP_694997.2	WXS	Illumina GAIIx	Phase_I	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	5	84	---	---	---	---	A	62375178	G	A	62375178	3	1	269	1	0	0	0	0	1	0	0	0	5098	1000	35	2	1416	2	EML3	11	62375178	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08	54215308	62375178	72631338	11	10269										
ANO4	121601	broad.mit.edu	37	chr12	101436230	101436230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	tgtatggcgtcaccactctgGatcacagccaagtcaggtac	10	12	4	0			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_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.D345Y			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)	Somatic				ANO4_ENST00000392977.3_Missense_Mutation_p.D380Y|ANO4_ENST00000299222.9_5'UTR	p.D345Y	NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	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	12	93	---	---	---	---	T	101436230	G	T	101436230	3	4	269	1	0	0	0	0	1	0	0	0	699	1174	41	3	1071	3	ANO4	12	101436230	Missense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		101436230	32415665	12	10270										
DAAM1	23002	broad.mit.edu	37	chr14	59730213	59730213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	gccatggccccaagaaagagAggtggacgaggtatttcatt	13	8	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	9	36	---	---	---	---	C	59730213	A	C	59730213	3	2	269	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	13	10271										
KDM6A	7403	broad.mit.edu	37	chrX	44938585	44938585	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.142857142857143	2	1	1.63157894736842	3.26315789473684	1.08771929824561	1	1	0	accaggcctcctcattccagGaatcattgagagtaagtatt	8	10	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:44938585G>T	ENST00000377967.4	+	20	3174	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*	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*		Somatic				KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E966*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1052*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1000*	p.E1045*	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	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	10	17	---	---	---	---	T	44938585	G	T	44938585	4	4	269	1	0	0	0	0	0	1	0	0	8137	1175	41	3	3211	3	KDM6A	23	44938585	Nonsense_Mutation	SNP	G	TCGA-V1-A8ML-01A-11D-A377-08		44938585	110331975	14	10272										
BNIPL	149428	broad.mit.edu	37	chr1	151011474	151011474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	ccttcagactcggagcagctGgacagtggacatgaatttga	12	9	1	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.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			Somatic				BNIPL_ENST00000368931.3_Silent_p.L135L	p.L53L	NM_001159642.1	NP_001153114.1	WXS	Illumina GAIIx	Phase_I	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	3	17	---	---	---	---	A	151011474	G	A	151011474	2	1	270	1	0	0	0	0	0	0	0	1	1480	1335	47	2		2	BNIPL	1	151011474	Silent	SNP	G	TCGA-V1-A8MU-01A-11D-A377-08		151011474	98239147	1	10273										
NR1I3	9970	broad.mit.edu	37	chr1	161203129	161203129	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	ggcttctgccgacagtatcaCtgtgccaggcaagagatcat	11	11	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.chr1:161203129C>A	ENST00000367982.4	-	4	394		c.e4-1		NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000367983.4_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000442691.2_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	9970				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			Somatic				NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000515452.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000511944.1_Intron				WXS	Illumina GAIIx	Phase_I	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	20	51	---	---	---	---	A	161203129	C	A	161203129	5	1	270	1	0	0	0	0	0	0	1	0	10621	579	20	3	954	3	NR1I3	1	161203129	Splice_Site	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	10191655	161203129	88047492	2	10274										
ARL13B	200894	broad.mit.edu	37	chr3	93769715	93769715	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gacttccaaaacttgagcctCttggtgaaacacatcataat	6	10	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.chr3:93769715C>G	ENST00000394222.3	+	9	1464	c.1189C>G	c.(1189-1191)Ctt>Gtt	p.L397V	ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000535334.1_Missense_Mutation_p.L294V|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V	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		Somatic				ARL13B_ENST00000539730.1_Missense_Mutation_p.L118V|ARL13B_ENST00000394222.3_Missense_Mutation_p.L397V|ARL13B_ENST00000303097.7_Missense_Mutation_p.L290V|ARL13B_ENST00000471138.1_Missense_Mutation_p.L397V|DHFRL1_ENST00000481631.1_Intron	p.L294V	NM_001174151.1	NP_001167622.1	WXS	Illumina GAIIx	Phase_I	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	9	36	---	---	---	---	G	93769715	C	G	93769715	3	3	270	1	0	0	0	0	1	0	0	0	929	913	32	4	1223	4	ARL13B	3	93769715	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		93769715	104252715	3	10275										
TRIM42	287015	broad.mit.edu	37	chr3	140397286	140397286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gtgttgctgctcttgggccaAtgatcccaactgtaagtgct	11	10	1	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.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		Somatic					p.N72S	NM_152616.4	NP_689829.3	WXS	Illumina GAIIx	Phase_I	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	17	53	---	---	---	---	G	140397286	A	G	140397286	3	3	270	1	0	0	0	0	1	0	0	0	16514	101	4	2	217	2	TRIM42	3	140397286	Missense_Mutation	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	46627571	140397286	57625144	4	10276										
EHHADH	1962	broad.mit.edu	37	chr3	184922509	184922509	+	Frame_Shift_Del	DEL	G	G	-													0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	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)ccafs		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		Somatic				EHHADH_ENST00000456310.1_Frame_Shift_Del_p.P106fs	p.P202fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	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	270	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	5	10277										
ADAMTS19	171019	broad.mit.edu	37	chr5	128994429	128994429	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tttaatcacaccagaggagcAggtaatttttctttattttt	6	6	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.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.(2404-2406)gcA>gcG		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			Somatic				CTC-575N7.1_ENST00000503616.1_RNA	p.A802A	NM_133638.3	NP_598377.3	WXS	Illumina GAIIx	Phase_I	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.2406A>G	CCDS4146.1																																																																																				0.313	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	Silent	13	38	13	38	---	---	---	---	G	128994429	A	G	128994429	5	3	270	1	0	0	0	0	0	0	1	0	264	202	7	2	2464	2	ADAMTS19	5	128994429	Splice_Site	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08		128994429	51920831	6	10278										
PCDHA7	56141	broad.mit.edu	37	chr5	140215501	140215501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tcgagctacgtgtcagtgcaCgcggagagcggcaaggtgta	16	9	1	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.chr5:140215501C>T	ENST00000525929.1	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_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|PCDHA5_ENST00000529619.1_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	56141							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			Somatic				PCDHA7_ENST00000378125.3_Silent_p.H511H|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.H511H	NM_018910.2	NP_061733.1	WXS	Illumina GAIIx	Phase_I			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	36	97	---	---	---	---	T	140215501	C	T	140215501	2	4	270	1	0	0	0	0	0	0	0	1	11529	535	19	2		2	PCDHA7	5	140215501	Silent	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	11221072	140215501	40699759	7	10279										
PCDHA8	56140	broad.mit.edu	37	chr5	140222414	140222414	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gcggcgggtgggcgagcgctCgctgtcgagctacatttcgg	18	11	0	0	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|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_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|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_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	56140							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*		Somatic				PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.S503*|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.S503*	NM_018911.2	NP_061734.1	WXS	Illumina GAIIx	Phase_I			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	18	61	---	---	---	---	A	140222414	C	A	140222414	4	1	270	1	0	0	0	0	0	1	0	0	11530	893	31	3	1510	3	PCDHA8	5	140222414	Nonsense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	6913	140222414	40692846	8	10280										
PCDHB7	56129	broad.mit.edu	37	chr5	140554104	140554104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	caactcgcccttcgtgctgtAcccgctgcagaacagctccg	9	17	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.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	56129				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		Somatic					p.Y563C	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	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	14	32	---	---	---	---	G	140554104	A	G	140554104	3	3	270	1	0	0	0	0	1	0	0	0	11547	391	14	2	1690	2	PCDHB7	5	140554104	Missense_Mutation	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	331690	140554104	40361156	9	10281										
OR12D3	81797	broad.mit.edu	37	chr6	29342301	29342301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	caggacgaatatatgtgaagCccacaggtccatagaaaaga	10	8	0	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		Somatic				OR5V1_ENST00000377154.1_Intron	p.G255V	NM_030959.2	NP_112221.1	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	A	29342301	C	A	29342301	3	1	270	1	0	0	0	0	1	0	0	0	10932	739	26	3	190	3	OR12D3	6	29342301	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		29342301	141772766	10	10282										
KIAA0240	23506	broad.mit.edu	37	chr6	42832986	42832986	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gaaaccacatttaagaacatCttggaactcaaaaaggcggg	9	8	2	1	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		Somatic				GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.I1014M	p.I1014M			WXS	Illumina GAIIx	Phase_I					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	11	31	---	---	---	---	G	42832986	C	G	42832986	3	3	270	1	0	0	0	0	1	0	0	0	8164	903	32	4	3084	4	KIAA0240	6	42832986	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	13490685	42832986	128282081	11	10283										
BRAF	673	broad.mit.edu	37	chr7	140453134	140453134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	ggacccactccatcgagattTcactgtagctagaccaaaat	7	12	1	2	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		Somatic					p.K601E	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	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	11	40	---	---	---	---	C	140453134	T	C	140453134	3	2	270	1	0	0	0	0	1	0	0	0	1496	1792	62	2	515	2	BRAF	7	140453134	Missense_Mutation	SNP	T	TCGA-V1-A8MU-01A-11D-A377-08		140453134	18685529	12	10284										
MUC2	4583	broad.mit.edu	37	chr11	1075772	1075772	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gactacaacttcgcctccgaCtgccgaggctcctacaagga	9	15	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.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		Somatic				MUC2_ENST00000359061.5_Missense_Mutation_p.D66E	p.D66E	NM_002457.2	NP_002448.2	WXS	Illumina GAIIx	Phase_I	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	7	9	---	---	---	---	G	1075772	C	G	1075772	3	3	270	1	0	0	0	0	1	0	0	0	9975	564	20	4	204	4	MUC2	11	1075772	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		1075772	133930744	13	10285										
MOGAT2	80168	broad.mit.edu	37	chr11	75442268	75442268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tatatcaaagagctgtgcaaCctcttcgaggcccacaaact	7	12	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.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		Somatic				MOGAT2_ENST00000198801.5_Missense_Mutation_p.N314K	p.N232K			WXS	Illumina GAIIx	Phase_I	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	16	44	---	---	---	---	A	75442268	C	A	75442268	3	1	270	1	0	0	0	0	1	0	0	0	9695	506	18	3	964	3	MOGAT2	11	75442268	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08	74366496	75442268	59564248	14	10286										
HSPB2	3316	broad.mit.edu	37	chr11	111784196	111784196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	gaagagatcctgacccccacActctaccatggctactatgt	7	14	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.chr11:111784196A>G	ENST00000304298.3	+	2	714	c.126A>G	c.(124-126)acA>acG	p.T42T	CRYAB_ENST00000227251.3_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank|HSPB2_ENST00000537382.1_Silent_p.T42T|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533971.1_5'Flank	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			Somatic				CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Silent_p.T42T|CRYAB_ENST00000533475.1_Intron	p.T42T	NM_001541.3	NP_001532.1	WXS	Illumina GAIIx	Phase_I	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	30	108	---	---	---	---	G	111784196	A	G	111784196	2	3	270	1	0	0	0	0	0	0	0	1	7420	146	6	2		2	HSPB2	11	111784196	Silent	SNP	A	TCGA-V1-A8MU-01A-11D-A377-08	36341928	111784196	23222320	15	10287										
IKBIP	121457	broad.mit.edu	37	chr12	99007629	99007635	+	Frame_Shift_Del	DEL	AGCTTAG	AGCTTAG	-													0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	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)ctaagcttafs		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		Somatic				IKBIP_ENST00000420861.1_Frame_Shift_Del_p.LSL155fs|IKBIP_ENST00000393042.3_3'UTR	p.LSL261fs	NM_201612.2	NP_963906.1	WXS	Illumina GAIIx	Phase_I	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	270	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		99007629	34844266	16	10288										
OR4K2	390431	broad.mit.edu	37	chr14	20344905	20344905	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tatgcattcaatgagtcaggTcatatttgccctcacgttac	7	10	4	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.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		Somatic					p.V160G	NM_001005501.1	NP_001005501.1	WXS	Illumina GAIIx	Phase_I	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	50	237	---	---	---	---	G	20344905	T	G	20344905	3	3	270	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	17	10289										
ITGAX	3687	broad.mit.edu	37	chr16	31382413	31382413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tcctctggccagcggatcgcGggctcccagctctcctccag	11	18	2	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			Somatic				ITGAX_ENST00000562522.1_Silent_p.A573A	p.A573A	NM_000887.3	NP_000878.2	WXS	Illumina GAIIx	Phase_I	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	14	50	---	---	---	---	A	31382413	G	A	31382413	2	1	270	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	18	10290										
ZNF536	9745	broad.mit.edu	37	chr19	31038939	31038939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	2	1	2.37012987012987	5.53030303030303	0	0.333333333333333	1	0	tagagcgacaccatcgggagCggcagaacggggctgggccg	18	11	0	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.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		Somatic					p.R805W	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	T	31038939	C	T	31038939	3	4	270	1	0	0	0	0	1	0	0	0	17971	759	27	2	2423	2	ZNF536	19	31038939	Missense_Mutation	SNP	C	TCGA-V1-A8MU-01A-11D-A377-08		31038939	28090044	19	10291										
CYP2J2	1573	broad.mit.edu	37	chr1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)actfs		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		Somatic				CYP2J2_ENST00000492633.1_5'UTR	p.T141fs	NM_000775.2	NP_000766.2	WXS	Illumina GAIIx	Phase_I	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	271	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	10292										
FLG2	388698	broad.mit.edu	37	chr1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattgacttgatgtagactcAtgctggccacaagtttgacc	10	9	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.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_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		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.H456Q	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	4	154	---	---	---	---	T	152328894	A	T	152328894	3	4	271	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	10293										
C1orf26	54823	broad.mit.edu	37	chr1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattgagtgatgagaacaatGatgatcgagtactaaaatgc	11	4	0	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.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		Somatic				SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	p.D485Y	NM_017673.6	NP_060143.4	WXS	Illumina GAIIx	Phase_I	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	10	30	---	---	---	---	T	185159704	G	T	185159704	3	4	271	1	0	0	0	0	1	0	0	0	2035	1290	45	3	1487	3	C1orf26	1	185159704	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	32830810	185159704	64090917	3	10294										
SPAG16	79582	broad.mit.edu	37	chr2	215274874	215274874	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccctcaggtcgagttttAgctcaggcaagtggcaatgg	12	10	3	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.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	VWC2L_ENST00000427124.1_5'Flank|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|VWC2L_ENST00000312504.5_5'Flank	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			Somatic				AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|AC107218.3_ENST00000437883.1_RNA	p.L577L	NM_024532.4	NP_078808.3	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	G	215274874	A	G	215274874	2	3	271	1	0	0	0	0	0	0	0	1	14978	417	15	2		2	SPAG16	2	215274874	Silent	SNP	A	TCGA-V1-A8WL-01A-11D-A377-08		215274874	27924499	4	10295										
ST3GAL6	10402	broad.mit.edu	37	chr3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgctgtcttcctctattatGtactgcattgcatattatgg	8	8	2	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.chr3:98487336G>T	ENST00000483910.1	+	2	341	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000462152.1_Intron	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		Somatic				ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	p.V18L	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	WXS	Illumina GAIIx	Phase_I	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	41	88	---	---	---	---	T	98487336	G	T	98487336	3	4	271	1	0	0	0	0	1	0	0	0	15218	1377	48	3	54	3	ST3GAL6	3	98487336	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		98487336	99535094	5	10296										
SPATA5	166378	broad.mit.edu	37	chr4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atatatgtataggtcgaccaGtgttgcttactagtttgaac	9	6	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.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																																						ENST00000274008.4																			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		Somatic				SPATA5_ENST00000422835.2_3'UTR	p.V86L	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			2	325	+								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	34	55	---	---	---	---	C	123848881	G	C	123848881	3	2	271	1	0	0	0	0	1	0	0	0	15010	1029	36	4	262	4	SPATA5	4	123848881	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		123848881	67305395	6	10297										
GCNT2	2651	broad.mit.edu	37	chr6	10556756	10556756	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggggagatccaagcttcCaaaggctaaatatctcagac	10	9	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.chr6:10556756C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Nonsense_Mutation_p.Q34*			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			Somatic				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	p.Q34*	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	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	36	70	---	---	---	---	T	10556756	C	T	10556756	1	4	271	0	1	0	0	0	0	0	0	0	6301	595	21	2		2	GCNT2	6	10556756	Intron	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		10556756	160558311	7	10298										
CNR1	1268	broad.mit.edu	37	chr6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cgcagtgccttcacaagaggGaaacatgctccggaaagcgt	12	11	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.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	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	1268				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		Somatic				CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	WXS	Illumina GAIIx	Phase_I	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	33	75	---	---	---	---	A	88853757	G	A	88853757	3	1	271	1	0	0	0	0	1	0	0	0	3631	1174	41	2	185	2	CNR1	6	88853757	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08	78297001	88853757	82261310	8	10299										
PRKDC	5591	broad.mit.edu	37	chr8	48776073	48776073	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggaaggcgagaatacatCacgtctagaatcttatagta	10	6	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.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	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			Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	p.V1878V	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	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	35	70	---	---	---	---	A	48776073	C	A	48776073	2	1	271	1	0	0	0	0	0	0	0	1	12521	813	29	3		3	PRKDC	8	48776073	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		48776073	97587949	9	10300										
ASB6	140459	broad.mit.edu	37	chr9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcgctgcaggcagggcaggCgctcaggctcctcgctggcc	17	15	1	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		Somatic				ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron	p.R150H	NM_017873.3	NP_060343.1	WXS	Illumina GAIIx	Phase_I	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	25	69	---	---	---	---	T	132401543	C	T	132401543	3	4	271	1	0	0	0	0	1	0	0	0	1027	768	27	2	828	2	ASB6	9	132401543	Missense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		132401543	8811888	10	10301										
ATM	472	broad.mit.edu	37	chr11	108199783	108199783	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaattatgatggagaaagTagtgatgagctaagaaatgg	14	1	0	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.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)	Somatic				ATM_ENST00000452508.2_Silent_p.S2375S|C11orf65_ENST00000525729.1_Intron	p.S2375S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	17	27	---	---	---	---	C	108199783	T	C	108199783	2	2	271	1	0	0	0	0	0	0	0	1	1109	1635	57	2		2	ATM	11	108199783	Silent	SNP	T	TCGA-V1-A8WL-01A-11D-A377-08		108199783	26806733	11	10302										
CUL4A	8451	broad.mit.edu	37	chr13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggcgaggccgtggaccggAgcctgttgcggagcctcctg	18	13	0	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.chr13:113887612A>C	ENST00000375440.4	+	6	718	c.634A>C	c.(634-636)Agc>Cgc	p.S212R	CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000451881.1_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		Somatic				CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R	p.S112R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	WXS	Illumina GAIIx	Phase_I	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	13	41	---	---	---	---	C	113887612	A	C	113887612	3	2	271	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	12	10303										
LAIR1	3903	broad.mit.edu	37	chr19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtagtcactctgctcagaCcatttagggggcttataata	10	8	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.chr19:54872560C>T	ENST00000391742.2	-	3	479	c.327G>A	c.(325-327)tgG>tgA	p.W109*	LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391743.3_Nonsense_Mutation_p.W91*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*			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*		Somatic				LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*	p.W91*			WXS	Illumina GAIIx	Phase_I	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	32	95	---	---	---	---	T	54872560	C	T	54872560	4	4	271	1	0	0	0	0	0	1	0	0	8602	508	18	2	568	2	LAIR1	19	54872560	Nonsense_Mutation	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08		54872560	4256423	13	10304										
NLRP9	338321	broad.mit.edu	37	chr19	56223890	56223890	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtttcagggtcttcagtttCccattgcaaataagaacagc	8	9	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.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			Somatic					p.G856G	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	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	10	25	---	---	---	---	A	56223890	C	A	56223890	2	1	271	1	0	0	0	0	0	0	0	1	10484	842	30	3		3	NLRP9	19	56223890	Silent	SNP	C	TCGA-V1-A8WL-01A-11D-A377-08	1351330	56223890	2905093	14	10305										
DIDO1	11083	broad.mit.edu	37	chr20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgttcctatacttgtacaaTcggtgccatcagcatctcca	6	12	2	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.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000370371.4_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_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_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		Somatic				DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G	p.D349G	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	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	30	68	---	---	---	---	C	61541166	T	C	61541166	3	2	271	1	0	0	0	0	1	0	0	0	4522	1435	50	2	5858	2	DIDO1	20	61541166	Missense_Mutation	SNP	T	TCGA-V1-A8WL-01A-11D-A377-08		61541166	1484354	15	10306										
ALAS2	212	broad.mit.edu	37	chrX	55039950	55039950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccatcatctgagggctgtgGtggggggagggtgccaagcg	19	8	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.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		Somatic				ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q	p.H523Q	NM_000032.4	NP_000023.2	WXS	Illumina GAIIx	Phase_I	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	12	7	---	---	---	---	T	55039950	G	T	55039950	3	4	271	1	0	0	0	0	1	0	0	0	485	1252	44	3	202	3	ALAS2	23	55039950	Missense_Mutation	SNP	G	TCGA-V1-A8WL-01A-11D-A377-08		55039950	100230610	16	10307										
TCHH	7062	broad.mit.edu	37	chr1	152081869	152081869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttgctcacgatctcgctctTgctgttcacccagcaggtgc	9	15	4	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.chr1:152081869T>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		Somatic					p.Q1275P	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	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	4	74	---	---	---	---	G	152081869	T	G	152081869	3	3	272	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		152081869	97168752	1	10308										
ADCY10	55811	broad.mit.edu	37	chr1	167871270	167871270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atacctgcaaatttcaggatGtctcctccaaaaatcaacac	4	12	3	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.chr1:167871270G>A	ENST00000367851.4	-	4	460	c.276C>T	c.(274-276)gaC>gaT	p.D92D	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_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			Somatic				ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_5'UTR	p.D92D	NM_018417.4	NP_060887.2	WXS	Illumina GAIIx	Phase_I	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	40	205	---	---	---	---	A	167871270	G	A	167871270	2	1	272	1	0	0	0	0	0	0	0	1	293	1368	48	2		2	ADCY10	1	167871270	Silent	SNP	G	TCGA-V1-A8WN-01A-11D-A377-08	15789401	167871270	81379351	2	10309										
DHX30	22907	broad.mit.edu	37	chr3	47889987	47889987	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gttcctgtccaaggctgtggAcagtccaaacatcaaggcag	11	11	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.chr3:47889987A>T	ENST00000445061.1	+	16	2929	c.2522A>T	c.(2521-2523)gAc>gTc	p.D841V	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000446256.2_Missense_Mutation_p.D802V	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		Somatic				DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V	p.D802V	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	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	18	95	---	---	---	---	T	47889987	A	T	47889987	3	4	272	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	3	10310										
MXD4	10608	broad.mit.edu	37	chr4	2263671	2263671	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	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)gccfs		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		Somatic				MXD4_ENST00000515378.1_5'UTR	p.A13fs	NM_006454.2	NP_006445.1	WXS	Illumina GAIIx	Phase_I	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	272	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	4	10311										
S100Z	170591	broad.mit.edu	37	chr5	76171233	76171233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acaccatgattagaatcttcCaccgctattctggcaaggaa	7	11	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.chr5:76171233C>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		Somatic				S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	p.H17Y	NM_130772.3	NP_570128.2	WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	T	76171233	C	T	76171233	3	4	272	1	0	0	0	0	1	0	0	0	13792	594	21	2	51	2	S100Z	5	76171233	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		76171233	104744027	5	10312										
C6orf105	84830	broad.mit.edu	37	chr6	11714718	11714718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaatggtgtgcaattacttcCtcttcttccgtggctgcctc	8	12	2	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.chr6:11714718C>T	ENST00000414691.3	-	6	1096	c.686G>A	c.(685-687)aGg>aAg	p.R229K	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K	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		Somatic				ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	p.R229K	NM_032744.3	NP_116133.1	WXS	Illumina GAIIx	Phase_I	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	3	63	---	---	---	---	T	11714718	C	T	11714718	3	4	272	1	0	0	0	0	1	0	0	0	2318	681	24	2	10	2	C6orf105	6	11714718	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		11714718	159400349	6	10313										
KIAA1586	57691	broad.mit.edu	37	chr6	56917924	56917924	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctacgaaaaaaaattagggaAcatgatgtttctaaagccca	7	7	1	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.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			Somatic				KIAA1586_ENST00000545356.1_Silent_p.E182E	p.E209E	NM_020931.2	NP_065982.1	WXS	Illumina GAIIx	Phase_I	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	16	41	---	---	---	---	G	56917924	A	G	56917924	2	3	272	1	0	0	0	0	0	0	0	1	8245	40	2	2		2	KIAA1586	6	56917924	Silent	SNP	A	TCGA-V1-A8WN-01A-11D-A377-08	45203206	56917924	114197143	7	10314										
RALGAPA1	253959	broad.mit.edu	37	chr14	36064859	36064859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttttttggtcaaagaatcaTcagaatcagaaggcattctt	7	7	5	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.chr14:36064859T>C	ENST00000389698.3	-	36	6062	c.5672A>G	c.(5671-5673)gAt>gGt	p.D1891G	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1938G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G	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		Somatic				RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G	p.D1938G	NM_001283044.1	NP_001269973.1	WXS	Illumina GAIIx	Phase_I	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	20	104	---	---	---	---	C	36064859	T	C	36064859	3	2	272	1	0	0	0	0	1	0	0	0	13013	1435	50	2	611	2	RALGAPA1	14	36064859	Missense_Mutation	SNP	T	TCGA-V1-A8WN-01A-11D-A377-08		36064859	71284681	8	10315										
TRPM7	54822	broad.mit.edu	37	chr15	50920444	50920444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcaaatgcagatgcattagTacctaatcgaataaagaaaa	7	6	1	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.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		Somatic				TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	p.T403A	NM_017672.4	NP_060142.3	WXS	Illumina GAIIx	Phase_I	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	19	123	---	---	---	---	C	50920444	T	C	50920444	3	2	272	1	0	0	0	0	1	0	0	0	16588	1638	57	2	4506	2	TRPM7	15	50920444	Missense_Mutation	SNP	T	TCGA-V1-A8WN-01A-11D-A377-08		50920444	51610948	9	10316										
CYSLTR1	10800	broad.mit.edu	37	chrX	77529210	77529210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatagtgtcatggcatgtggCagaagatactgtcagatttc	11	6	2	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	10800				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		Somatic					p.A12S	NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	WXS	Illumina GAIIx	Phase_I	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	4	73	---	---	---	---	A	77529210	C	A	77529210	3	1	272	1	0	0	0	0	1	0	0	0	4201	710	25	3	983	3	CYSLTR1	23	77529210	Missense_Mutation	SNP	C	TCGA-V1-A8WN-01A-11D-A377-08		77529210	77741350	10	10317										
AJAP1	55966	broad.mit.edu	37	chr1	4772288	4772288	+	Frame_Shift_Del	DEL	C	C	-													0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	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)cccfs		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		Somatic				AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs	p.P121fs	NM_018836.3	NP_061324.1	WXS	Illumina GAIIx	Phase_I	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	273	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	10318										
RPL11	6135	broad.mit.edu	37	chr1	24020353	24020353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	atgaaaagattgctgtccacTgcacagttcgaggggccaag	12	9	0	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		Somatic				RPL11_ENST00000482370.1_3'UTR	p.C72R	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	WXS	Illumina GAIIx	Phase_I	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	15	19	---	---	---	---	C	24020353	T	C	24020353	3	2	273	1	0	0	0	0	1	0	0	0	13557	1580	55	2	224	2	RPL11	1	24020353	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08	19248065	24020353	225230268	2	10319										
SPTA1	6708	broad.mit.edu	37	chr1	158648191	158648191	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	agcagtggccagatccatacCttttgaatcgttgtaagttt	9	8	0	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.chr1:158648191C>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																																						ENST00000368147.4																			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.(811-813)aGg>aTg		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			Somatic					p.R271M	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			6	992	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.812G>T	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	4	72	---	---	---	---	A	158648191	C	A	158648191	5	1	273	1	0	0	0	0	0	0	1	0	15115	695	24	1	6635	1	SPTA1	1	158648191	Splice_Site	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	134627838	158648191	90602430	3	10320										
C4orf17	84103	broad.mit.edu	37	chr4	100434271	100434271	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	cccccgacatctgctcttcaGatcgagggcaaaggcagcca	10	15	3	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			Somatic				C4orf17_ENST00000326581.4_Silent_p.Q11Q	p.Q11Q			WXS	Illumina GAIIx	Phase_I	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	8	51	---	---	---	---	A	100434271	G	A	100434271	2	1	273	1	0	0	0	0	0	0	0	1	2252	933	33	2		2	C4orf17	4	100434271	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		100434271	90720005	4	10321										
PROP1	5626	broad.mit.edu	37	chr5	177419968	177419968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	ggcaagaagctggaaaaggcGgcaggagacagatgggccag	18	7	0	3	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			Somatic					p.A141A	NM_006261.4	NP_006252	WXS	Illumina GAIIx	Phase_I	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	3	14	---	---	---	---	A	177419968	G	A	177419968	2	1	273	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		177419968	3495292	5	10322										
C6orf165	154313	broad.mit.edu	37	chr6	88120351	88120351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	atggctttaacatggatagaAccctcatgaaaagtgatgtg	10	6	1	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		Somatic				C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A	p.T53A			WXS	Illumina GAIIx	Phase_I	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	3	44	---	---	---	---	G	88120351	A	G	88120351	3	3	273	1	0	0	0	0	1	0	0	0	2341	43	2	2	163	2	C6orf165	6	88120351	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08		88120351	82994716	6	10323										
PON2	5445	broad.mit.edu	37	chr7	95039375	95039375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	agtagtggtcatttgtggcaTagaaatgtgccggtccaaca	12	7	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.chr7:95039375T>C	ENST00000222572.3	-	6	779	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Missense_Mutation_p.Y199C|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C			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		Somatic				PON2_ENST00000222572.3_Missense_Mutation_p.Y178C|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000483292.1_5'UTR	p.Y199C	NM_000305.2	NP_000296.2	WXS	Illumina GAIIx	Phase_I	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	16	21	---	---	---	---	C	95039375	T	C	95039375	3	2	273	1	0	0	0	0	1	0	0	0	12249	1406	49	2	547	2	PON2	7	95039375	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08		95039375	64099288	7	10324										
C9orf93	203238	broad.mit.edu	37	chr9	15678826	15678826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	aggaacagaagaaagtaattAtagacctttcaaagagactc	8	6	1	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		Somatic				CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V	p.I383V	NM_173550.2	NP_775821.2	WXS	Illumina GAIIx	Phase_I	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	6	37	---	---	---	---	G	15678826	A	G	15678826	3	3	273	1	0	0	0	0	1	0	0	0	2506	449	16	2	1181	2	C9orf93	9	15678826	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08		15678826	125534605	8	10325										
RALGPS1	9649	broad.mit.edu	37	chr9	129977092	129977092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	tactgtggcacaagcatttgGatgatgcatgtaaaagcaac	10	7	0	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.chr9:129977092G>T	ENST00000259351.5	+	18	1882	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y|RP13-225O21.2_ENST00000453199.1_RNA	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	23	54	---	---	---	---	T	129977092	G	T	129977092	3	4	273	1	0	0	0	0	1	0	0	0	13017	1174	41	3	1681	3	RALGPS1	9	129977092	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08	114298266	129977092	11236339	9	10326										
GRIA4	2893	broad.mit.edu	37	chr11	105623908	105623908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	gagtttgctggatcactacgAatggaactgttttgtcttcc	10	8	2	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.chr11:105623908A>G	ENST00000530497.1	+	3	449	c.449A>G	c.(448-450)gAa>gGa	p.E150G	GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000393127.2_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	2893				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		Somatic				GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G	p.E150G	NM_001077243.2	NP_001070711	WXS	Illumina GAIIx	Phase_I	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	9	76	---	---	---	---	G	105623908	A	G	105623908	3	3	273	1	0	0	0	0	1	0	0	0	6770	246	9	2	459	2	GRIA4	11	105623908	Missense_Mutation	SNP	A	TCGA-V1-A8WS-01A-11D-A377-08		105623908	29382608	10	10327										
ZNF770	54989	broad.mit.edu	37	chr15	35273990	35273990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	tatagttaacattattacctGaatgattagaaagattgttg	7	3	0	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.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		Somatic					p.S549L	NM_014106.3	NP_054825.2	WXS	Illumina GAIIx	Phase_I	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	8	96	---	---	---	---	A	35273990	G	A	35273990	3	1	273	1	0	0	0	0	1	0	0	0	18140	1294	45	2	433	2	ZNF770	15	35273990	Missense_Mutation	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		35273990	67257402	11	10328										
ATF7IP2	80063	broad.mit.edu	37	chr16	10575982	10575982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	accactccccatggcctgtaCtttatctcagtttttagctt	5	13	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.chr16:10575982C>T	ENST00000396560.2	+	12	2152	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I	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		Somatic				ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I	p.T642I	NM_024997.3	NP_079273.2	WXS	Illumina GAIIx	Phase_I	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	49	80	---	---	---	---	T	10575982	C	T	10575982	3	4	273	1	0	0	0	0	1	0	0	0	1088	565	20	2	1963	2	ATF7IP2	16	10575982	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		10575982	79778771	12	10329										
SLC38A7	55238	broad.mit.edu	37	chr16	58713793	58713793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	gatgcctgctgccacgccccCcgcagtgctgaaggctgctg	13	16	0	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.chr16:58713793C>T	ENST00000570101.1	-	2	1121	c.238G>A	c.(238-240)Ggg>Agg	p.G80R	SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_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		Somatic				SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron	p.G80R			WXS	Illumina GAIIx	Phase_I	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	8	10	---	---	---	---	T	58713793	C	T	58713793	3	4	273	1	0	0	0	0	1	0	0	0	14609	623	22	2	1190	2	SLC38A7	16	58713793	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	48137811	58713793	31640960	13	10330										
ZNF468	90333	broad.mit.edu	37	chr19	53343985	53343985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	actcattacactattaaggcTtctctccactatgaagccta	4	12	2	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.chr19:53343985T>G	ENST00000595646.1	-	4	1682	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T|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		Somatic				ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T	p.K521T			WXS	Illumina GAIIx	Phase_I	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	31	79	---	---	---	---	G	53343985	T	G	53343985	3	3	273	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		53343985	5784998	14	10331										
SLC12A5	57468	broad.mit.edu	37	chr20	44670163	44670163	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	cagggcatccctggtgctgcCagtggcctcatcaaaggtct	12	13	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.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																																						ENST00000243964.3																			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.(1048-1050)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			Somatic				SLC12A5_ENST00000454036.2_Silent_p.A373A	p.A350A	NM_020708.4	NP_065759.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			8	1148	+		Myeloproliferative disorder(115;0.0122)	373					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1050C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			20	41	20	41	---	---	---	---	A	44670163	C	A	44670163	2	1	273	1	0	0	0	0	0	0	0	1	14386	581	21	1		1	SLC12A5	20	44670163	Silent	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08		44670163	18355357	15	10332										
ZNFX1	57169	broad.mit.edu	37	chr20	47887616	47887616	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	gaggagggagatgatgttgcTtatgtgctctggatactggt	16	4	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.chr20:47887616T>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		Somatic				ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R	p.S245R	NM_021035.2	NP_066363.1	WXS	Illumina GAIIx	Phase_I	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	4	52	---	---	---	---	G	47887616	T	G	47887616	3	3	273	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	16	10333										
OPRL1	4987	broad.mit.edu	37	chr20	62730046	62730046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	cttccgcaagttctgctgtgCatctgccctgcgccgggacg	12	15	2	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.chr20:62730046C>T	ENST00000349451.3	+	6	1419	c.1007C>T	c.(1006-1008)gCa>gTa	p.A336V	OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_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		Somatic				OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V	p.A336V	NM_001200019.1	NP_001186948.1	WXS	Illumina GAIIx	Phase_I	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	14	30	---	---	---	---	T	62730046	C	T	62730046	3	4	273	1	0	0	0	0	1	0	0	0	10886	710	25	2	1017	2	OPRL1	20	62730046	Missense_Mutation	SNP	C	TCGA-V1-A8WS-01A-11D-A377-08	14842430	62730046	295474	17	10334										
CPT1B	1375	broad.mit.edu	37	chr22	51009403	51009403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	cctgtcgatccctgccccggTcatggccaggcggtacatat	11	15	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.chr22:51009403T>C	ENST00000360719.2	-	16	2082	c.1945A>G	c.(1945-1947)Acc>Gcc	p.T649A	CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A	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		Somatic				CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A	p.T649A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	WXS	Illumina GAIIx	Phase_I	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	4	156	---	---	---	---	C	51009403	T	C	51009403	3	2	273	1	0	0	0	0	1	0	0	0	3832	1667	58	2	389	2	CPT1B	22	51009403	Missense_Mutation	SNP	T	TCGA-V1-A8WS-01A-11D-A377-08		51009403	295163	18	10335										
CXorf38	159013	broad.mit.edu	37	chrX	40506743	40506743	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	3	0.853525798085268	3.51428571428571	NA	3.51428571428571	0.1	1	0	ttcttgtactcggcgcagttGaggcgcgccgctagctccga	13	13	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.chrX:40506743G>A	ENST00000327877.5	-	1	56	c.30C>T	c.(28-30)ctC>ctT	p.L10L	CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_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			Somatic				CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L	p.L10L	NM_144970.2	NP_659407.1	WXS	Illumina GAIIx	Phase_I	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	13	7	---	---	---	---	A	40506743	G	A	40506743	2	1	273	1	0	0	0	0	0	0	0	1	4107	1277	45	2		2	CXorf38	23	40506743	Silent	SNP	G	TCGA-V1-A8WS-01A-11D-A377-08		40506743	114763817	19	10336										
MACF1	23499	broad.mit.edu	37	chr1	39853372	39853372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ggctatgctgaatgaggtggAgaagcgccgctccctgctgg	16	10	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.chr1:39853372A>G	ENST00000372915.3	+	57	14960	c.14873A>G	c.(14872-14874)gAg>gGg	p.E4958G	MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000564288.1_Missense_Mutation_p.E4953G			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		Somatic				MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000372915.3_Missense_Mutation_p.E4958G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G	p.E4953G			WXS	Illumina GAIIx	Phase_I	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	7	24	---	---	---	---	G	39853372	A	G	39853372	3	3	274	1	0	0	0	0	1	0	0	0	9144	304	11	2	15033	2	MACF1	1	39853372	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		39853372	209397249	1	10337										
ZCCHC11	23318	broad.mit.edu	37	chr1	52947299	52947319	+	Splice_Site	DEL	GCCTTCAATCTATATAAAAAG	GCCTTCAATCTATATAAAAAG	-													0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	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.(1636-1644)ctttttatadel		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			Somatic				ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR	p.LFI546del	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			11	1898_1906	-			546					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	DEL	ENST00000371544.3	37	c.1636_1644delCTTTTTATATAGATTGAAGGC	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	274	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	10338										
DOCK7	85440	broad.mit.edu	37	chr1	63027353	63027353	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	acctttgtgattatctacccAtttcatgccaggtagaggaa	8	9	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.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		Somatic				DOCK7_ENST00000340370.5_Missense_Mutation_p.W712R	p.W712R	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	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	14	59	---	---	---	---	T	63027353	A	T	63027353	3	4	274	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	10339										
DEPDC1	55635	broad.mit.edu	37	chr1	68947142	68947142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ccagtgacctcgtacccattGcatcatgaagtttgggcata	9	11	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.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		Somatic				DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V|RP4-694A7.2_ENST00000425820.1_RNA	p.A639V	NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	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	3	55	---	---	---	---	A	68947142	G	A	68947142	3	1	274	1	0	0	0	0	1	0	0	0	4439	1319	46	2	535	2	DEPDC1	1	68947142	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08	5919789	68947142	180303479	4	10340										
ZRANB3	84083	broad.mit.edu	37	chr2	135965348	135965348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	agagggcttcacagtgagatCtgcctggactgtgtatggat	14	7	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.chr2:135965348C>A	ENST00000264159.6	-	19	2781	c.2665G>T	c.(2665-2667)Gat>Tat	p.D889Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_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		Somatic				ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D889Y	p.D887Y			WXS	Illumina GAIIx	Phase_I	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	4	47	---	---	---	---	A	135965348	C	A	135965348	3	1	274	1	0	0	0	0	1	0	0	0	18221	913	32	3	586	3	ZRANB3	2	135965348	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		135965348	107234025	5	10341										
VGLL3	389136	broad.mit.edu	37	chr3	87018025	87018025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gtcatgcatatggctgtaggAtgggctcacctgagatgtca	13	8	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.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		Somatic				VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	p.S218P	NM_016206.2	NP_057290.2	WXS	Illumina GAIIx	Phase_I	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	8	48	---	---	---	---	G	87018025	A	G	87018025	3	3	274	1	0	0	0	0	1	0	0	0	17157	333	12	2	336	2	VGLL3	3	87018025	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		87018025	111004405	6	10342										
ERBB2IP	55914	broad.mit.edu	37	chr5	65322164	65322164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aaatataactgtgctgtttcTccattccaataaacttgaga	5	8	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.chr5:65322164T>C	ENST00000284037.5	+	13	1444	c.1055T>C	c.(1054-1056)cTc>cCc	p.L352P	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_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		Somatic				ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P	p.L352P	NM_001253697.1	NP_001240626.1	WXS	Illumina GAIIx	Phase_I	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	12	46	---	---	---	---	C	65322164	T	C	65322164	3	2	274	1	0	0	0	0	1	0	0	0	5207	1551	54	2	1097	2	ERBB2IP	5	65322164	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08		65322164	115593096	7	10343										
PCDHGA3	56112	broad.mit.edu	37	chr5	140723618	140723618	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gaaatgaccaattgcctgagTttccgaaatggcagaggact	11	8	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.chr5:140723618T>A	ENST00000253812.6	+	1	18	c.18T>A	c.(16-18)agT>agA	p.S6R	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	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	56112							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		Somatic	OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.S6R	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina GAIIx	Phase_I			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	33	86	---	---	---	---	A	140723618	T	A	140723618	3	1	274	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	8	10344										
SLC26A2	1836	broad.mit.edu	37	chr5	149357907	149357907	+	Frame_Shift_Del	DEL	T	T	-													0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	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)gttfs		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		Somatic					p.V231fs	NM_000112.3	NP_000103.2	WXS	Illumina GAIIx	Phase_I	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	274	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	9	10345										
HCRTR2	3062	broad.mit.edu	37	chr6	55120018	55120018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	tctgtcaccctttgatgtttAagagcacagcaaagcgggcc	10	11	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.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		Somatic					p.K163E	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	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	9	51	---	---	---	---	G	55120018	A	G	55120018	3	3	274	1	0	0	0	0	1	0	0	0	7002	363	13	2	497	2	HCRTR2	6	55120018	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		55120018	115995049	10	10346										
AMD1	262	broad.mit.edu	37	chr6	111210071	111210071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	caactgcagtgagagtagcaTgtttgtctccaagagacgtt	11	8	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.chr6:111210071T>G	ENST00000368885.3	+	3	545	c.209T>G	c.(208-210)aTg>aGg	p.M70R	AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000451850.2_Intron	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		Somatic				AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000451850.2_Intron	p.M70R	NM_001634.4	NP_001625.2	WXS	Illumina GAIIx	Phase_I	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	18	57	---	---	---	---	G	111210071	T	G	111210071	3	3	274	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	11	10347										
SHPRH	257218	broad.mit.edu	37	chr6	146242326	146242326	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	atattccttcttccatgcttCaaagagatccattgaagtgc	6	10	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.chr6:146242326C>T	ENST00000367505.2	-	21	4249	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|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		Somatic				SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1329K	p.E1333K	NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	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	4	17	---	---	---	---	T	146242326	C	T	146242326	3	4	274	1	0	0	0	0	1	0	0	0	14291	835	29	2	1123	2	SHPRH	6	146242326	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	35032255	146242326	24872741	12	10348										
POM121L12	285877	broad.mit.edu	37	chr7	53103908	53103908	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gggagactctgctgggggcgCtcagccagtgccccaaggga	17	12	2	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.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		Somatic					p.L182I	NM_182595.3	NP_872401.3	WXS	Illumina GAIIx	Phase_I	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	9	23	---	---	---	---	A	53103908	C	A	53103908	3	1	274	1	0	0	0	0	1	0	0	0	12241	797	28	3	546	3	POM121L12	7	53103908	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		53103908	106034755	13	10349										
MAGI2	9863	broad.mit.edu	37	chr7	79082369	79082369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	cttgagccggagggggtcctTgcagtgtttgatcacggcca	15	10	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.chr7:79082369T>C	ENST00000354212.4	-	1	521	c.268A>G	c.(268-270)Aag>Gag	p.K90E	MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_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		Somatic				MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E	p.K90E	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	C	79082369	T	C	79082369	3	2	274	1	0	0	0	0	1	0	0	0	9191	1821	63	2	4187	2	MAGI2	7	79082369	Missense_Mutation	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	25978461	79082369	80056294	14	10350										
CSMD3	114788	broad.mit.edu	37	chr8	113267582	113267582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aaaattgcagctgaatgaaaCctctgactggtatataaagc	8	7	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.chr8:113267582C>A	ENST00000297405.5	-	62	10181	c.9937G>T	c.(9937-9939)Gtt>Ttt	p.V3313F	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F	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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	33	36	---	---	---	---	A	113267582	C	A	113267582	3	1	274	1	0	0	0	0	1	0	0	0	3946	507	18	3	1226	3	CSMD3	8	113267582	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		113267582	33096440	15	10351										
DSCC1	79075	broad.mit.edu	37	chr8	120865380	120865380	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	agcaacatattggaagtgtcTgctatcttcaagtcgtatgt	9	7	3	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.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			Somatic					p.A86A	NM_024094.2	NP_076999.2	WXS	Illumina GAIIx	Phase_I	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	13	92	---	---	---	---	C	120865380	T	C	120865380	2	2	274	1	0	0	0	0	0	0	0	1	4770	1567	55	2		2	DSCC1	8	120865380	Silent	SNP	T	TCGA-V1-A8WV-01A-11D-A377-08	7597798	120865380	25498642	16	10352										
GPR107	57720	broad.mit.edu	37	chr9	132853235	132853235	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	tgccttggaaaagaattgccAagtgacaagtttacattcag	9	7	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.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	57720					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			Somatic				GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P	p.P234P	NM_001136557.1	NP_001130029.1	WXS	Illumina GAIIx	Phase_I	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	7	30	---	---	---	---	C	132853235	A	C	132853235	2	2	274	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	17	10353										
C9orf139	401563	broad.mit.edu	37	chr9	139929144	139929144	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ggaaggaggctgtcctgccaCgcctgcgggtgacccggcct	16	14	0	1	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	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	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		Somatic					p.R71S	NM_207511.1	NP_997394.1	WXS	Illumina GAIIx	Phase_I	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	21	67	---	---	---	---	A	139929144	C	A	139929144	3	1	274	1	0	0	0	0	1	0	0	0	2459	536	19	3	217	3	C9orf139	9	139929144	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	7075909	139929144	1284287	18	10354										
NEBL	10529	broad.mit.edu	37	chr10	21169734	21169734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	cttccttacattactctggtGtttattgacctccatggcat	6	11	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.chr10:21169734G>A	ENST00000377122.4	-	5	865	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000377159.4_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		Somatic				NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000417816.2_Intron	p.H157Y	NM_006393.2	NP_006384.1	WXS	Illumina GAIIx	Phase_I	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	7	59	---	---	---	---	A	21169734	G	A	21169734	3	1	274	1	0	0	0	0	1	0	0	0	10303	1377	48	2	2671	2	NEBL	10	21169734	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		21169734	114365013	19	10355										
C10orf11	83938	broad.mit.edu	37	chr10	77806998	77806998	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gtacctcagtctgctgggcaAcgtggcctgtcccaacgagc	12	14	2	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.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		Somatic				C10orf11_ENST00000593699.1_3'UTR	p.N84T	NM_032024.3	NP_114413.1	WXS	Illumina GAIIx	Phase_I	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	9	55	---	---	---	---	C	77806998	A	C	77806998	3	2	274	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	20	10356										
MMP26	56547	broad.mit.edu	37	chr11	5013446	5013446	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ttttttctgtttccataggaGaaaaatgttcatctgacata	6	6	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.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		Somatic				MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q	p.E254Q			WXS	Illumina GAIIx	Phase_I	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	8	35	---	---	---	---	C	5013446	G	C	5013446	3	2	274	1	0	0	0	0	1	0	0	0	9663	943	33	4	782	4	MMP26	11	5013446	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		5013446	129993070	21	10357										
PRMT3	10196	broad.mit.edu	37	chr11	20424497	20424497	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	acagaaagctaccgagatttCatataccaaaatccacatat	4	10	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.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			Somatic				PRMT3_ENST00000437750.2_Silent_p.F184F	p.F246F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	WXS	Illumina GAIIx	Phase_I	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	24	53	---	---	---	---	T	20424497	C	T	20424497	2	4	274	1	0	0	0	0	0	0	0	1	12538	825	29	2		2	PRMT3	11	20424497	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	15411051	20424497	114582019	22	10358										
TCIRG1	10312	broad.mit.edu	37	chr11	67818000	67818000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gtgatgcgcataggcctgggCctgggccgggaggtgggcgt	21	9	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.chr11:67818000C>T	ENST00000265686.3	+	19	2391	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	TCIRG1_ENST00000530802.1_Intron|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000532635.1_Silent_p.G545G|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	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			Somatic				TCIRG1_ENST00000532635.1_Silent_p.G545G|TCIRG1_ENST00000530802.1_Intron	p.G761G	NM_006019.3	NP_006010.2	WXS	Illumina GAIIx	Phase_I	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	17	126	---	---	---	---	T	67818000	C	T	67818000	2	4	274	1	0	0	0	0	0	0	0	1	15700	726	26	2		2	TCIRG1	11	67818000	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	47393503	67818000	67188516	23	10359										
PHLDB1	23187	broad.mit.edu	37	chr11	118514553	118514553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	atggatggcgaggccaccagCccccttccccggacccgcag	12	18	0	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.chr11:118514553C>T	ENST00000361417.2	+	15	3324	c.2913C>T	c.(2911-2913)agC>agT	p.S971S	PHLDB1_ENST00000524713.1_Silent_p.S114S|PHLDB1_ENST00000356063.5_Silent_p.S924S|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			Somatic				PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000524713.1_Silent_p.S114S	p.S971S	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	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	13	26	---	---	---	---	T	118514553	C	T	118514553	2	4	274	1	0	0	0	0	0	0	0	1	11851	738	26	2		2	PHLDB1	11	118514553	Silent	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	50696553	118514553	16491963	24	10360										
KIAA1467	57613	broad.mit.edu	37	chr12	13215818	13215818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aaacccaaactacttgtccaAcggtaccttggctgccccag	7	15	0	0	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		Somatic					p.N254T	NM_020853.1	NP_065904.1	WXS	Illumina GAIIx	Phase_I	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	5	143	---	---	---	---	C	13215818	A	C	13215818	3	2	274	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	25	10361										
TMTC3	160418	broad.mit.edu	37	chr12	88560143	88560143	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gctgtaagcccaactcctacAaggcaactaacttttaacta	5	12	0	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.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			Somatic					p.T278T	NM_181783.3	NP_861448.2	WXS	Illumina GAIIx	Phase_I	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	4	56	---	---	---	---	G	88560143	A	G	88560143	2	3	274	1	0	0	0	0	0	0	0	1	16259	117	5	2		2	TMTC3	12	88560143	Silent	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08	75344325	88560143	45291752	26	10362										
ACTR6	64431	broad.mit.edu	37	chr12	100617651	100617657	+	Frame_Shift_Del	DEL	AGAAAAT	AGAAAAT	-													0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	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_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	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)gaagaaaatfs		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		Somatic				ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	p.EEN383fs	NM_022496.4	NP_071941.1	WXS	Illumina GAIIx	Phase_I	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	274	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	27	10363										
CIT	11113	broad.mit.edu	37	chr12	120288024	120288024	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aggcatactgtaattgggggAtccacgggcttgtgcttcga	14	8	0	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.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		Somatic				CIT_ENST00000261833.7_Missense_Mutation_p.I157N	p.I157N	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	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	6	176	---	---	---	---	T	120288024	A	T	120288024	3	4	274	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	28	10364										
SALL1	6299	broad.mit.edu	37	chr16	51174514	51174514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ctggtttggtgtctagccagCtggtgactggcttctctgga	14	9	2	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.chr16:51174514C>T	ENST00000251020.4	-	2	1652	c.1619G>A	c.(1618-1620)aGc>aAc	p.S540N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S443N|SALL1_ENST00000562674.1_5'Flank|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		Somatic				SALL1_ENST00000251020.4_Missense_Mutation_p.S540N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.S443N	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	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	11	31	---	---	---	---	T	51174514	C	T	51174514	3	4	274	1	0	0	0	0	1	0	0	0	13810	797	28	2	2363	2	SALL1	16	51174514	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08		51174514	39180239	29	10365										
ACTG1	71	broad.mit.edu	37	chr17	79479005	79479005	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	ctgggtgctcctccggggccAcgcgcagctcgttgtagaag	15	13	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.chr17:79479005A>T	ENST00000575842.1	-	2	713	c.287T>A	c.(286-288)gTg>gAg	p.V96E	ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E|ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|RP13-766D20.2_ENST00000430912.1_RNA			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		Somatic				ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E	p.V96E			WXS	Illumina GAIIx	Phase_I	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	9	33	---	---	---	---	T	79479005	A	T	79479005	3	4	274	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	30	10366										
MBD1	4152	broad.mit.edu	37	chr18	47806259	47806260	+	Frame_Shift_Ins	INS	-	-	A													0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	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_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_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|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_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)tacfs		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		Somatic				MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_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|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|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_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs	p.Y35fs			WXS	Illumina GAIIx	Phase_I	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	274	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	31	10367										
DSEL	92126	broad.mit.edu	37	chr18	65180992	65180992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aaacatactgtgtgacggatTtagctgtgtagcttccatag	10	7	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.chr18:65180992T>G	ENST00000310045.7	-	2	2357	c.884A>C	c.(883-885)aAa>aCa	p.K295T	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	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		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.K295T	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	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	4	76	---	---	---	---	G	65180992	T	G	65180992	3	3	274	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	32	10368										
ZNF816A	125893	broad.mit.edu	37	chr19	53453374	53453374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	aactctcgtatggtttgcaaGgcatgaatcactccggaaag	10	9	2	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.chr19:53453374G>A	ENST00000357666.4	-	5	1954	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F|ZNF816_ENST00000434371.2_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		Somatic				ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F	p.L552F	NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	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	14	88	---	---	---	---	A	53453374	G	A	53453374	3	1	274	1	0	0	0	0	1	0	0	0	18174	1000	35	2	305	2	ZNF816A	19	53453374	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		53453374	5675609	33	10369										
MMP9	4318	broad.mit.edu	37	chr20	44644994	44644994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	gacctatgacatcctgcagtGccctgaggactagggctccc	11	14	0	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		Somatic				RP11-465L10.10_ENST00000535913.1_RNA	p.C704F	NM_004994.2	NP_004985.2	WXS	Illumina GAIIx	Phase_I	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	9	33	---	---	---	---	T	44644994	G	T	44644994	3	4	274	1	0	0	0	0	1	0	0	0	9669	1319	46	3	2161	3	MMP9	20	44644994	Missense_Mutation	SNP	G	TCGA-V1-A8WV-01A-11D-A377-08		44644994	18380526	34	10370										
NCOA5	57727	broad.mit.edu	37	chr20	44693760	44693760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	caaaaggagaacctcccctgCtaacatcctccaaggcttgt	7	14	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.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		Somatic					p.S246N	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	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	21	75	---	---	---	---	T	44693760	C	T	44693760	3	4	274	1	0	0	0	0	1	0	0	0	10232	797	28	2	1014	2	NCOA5	20	44693760	Missense_Mutation	SNP	C	TCGA-V1-A8WV-01A-11D-A377-08	48766	44693760	18331760	35	10371										
DONSON	29980	broad.mit.edu	37	chr21	34951736	34951736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	atacagtactgcagagaaagAtccactctgtgaagatttga	9	7	1	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.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		Somatic				DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron	p.S495P	NM_017613.3	NP_060083.1	WXS	Illumina GAIIx	Phase_I	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	43	82	---	---	---	---	G	34951736	A	G	34951736	3	3	274	1	0	0	0	0	1	0	0	0	4706	333	12	2	225	2	DONSON	21	34951736	Missense_Mutation	SNP	A	TCGA-V1-A8WV-01A-11D-A377-08		34951736	13178159	36	10372										
IL17REL	400935	broad.mit.edu	37	chr22	50437763	50437763	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0810810810810811	3	0.968713181754189	2.27382256297919	8.33734939759036	1.66746987951807	1	1	0	atccgcaccgcgtcaggggtCgcagaccagccctgtgggag	15	14	1	1	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			Somatic				IL17REL_ENST00000341280.5_Silent_p.A186A	p.A186A	NM_001001694.2	NP_001001694.2	WXS	Illumina GAIIx	Phase_I	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	10	61	---	---	---	---	T	50437763	C	T	50437763	2	4	274	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	37	10373										
MTOR	2475	broad.mit.edu	37	chr1	11189830	11189830	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	aggttgttgcctcgtgacaaGgagatggaacggaagaagcc	15	7	0	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.chr1:11189830G>C	ENST00000361445.4	-	40	5755	c.5679C>G	c.(5677-5679)tcC>tcG	p.S1893S	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Silent_p.S98S	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			Somatic				MTOR_ENST00000376838.1_Silent_p.S98S	p.S1893S	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	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	7	15	---	---	---	---	C	11189830	G	C	11189830	2	2	275	1	0	0	0	0	0	0	0	1	9954	987	35	4		4	MTOR	1	11189830	Silent	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		11189830	238060791	1	10374										
OBSCN	84033	broad.mit.edu	37	chr1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tgagctgagcaaggcggcacCggtggagtggaggaaggggc	21	7	0	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.chr1:228481946C>T	ENST00000422127.1	+	42	11269	c.11225C>T	c.(11224-11226)cCg>cTg	p.P3742L	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L|OBSCN_ENST00000570156.2_Missense_Mutation_p.P4171L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L	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		Somatic				OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L	p.P4171L	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	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	71	92	---	---	---	---	T	228481946	C	T	228481946	3	4	275	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	10375										
GIGYF2	26058	broad.mit.edu	37	chr2	233655742	233655742	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tacagaaagagcctattccaGaagagcaggagatggacttc	11	8	0	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.chr2:233655742G>T	ENST00000409547.1	+	13	1266	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|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*		Somatic				GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*	p.E341*			WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	T	233655742	G	T	233655742	4	4	275	1	0	0	0	0	0	1	0	0	6378	943	33	3	1059	3	GIGYF2	2	233655742	Nonsense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		233655742	9543631	3	10376										
DGKD	8527	broad.mit.edu	37	chr2	234368918	234368918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ctccatcctgttccctgcacCcggagatgctgtccgaggag	11	15	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		Somatic				DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	p.P970S	NM_152879.2	NP_690618.2	WXS	Illumina GAIIx	Phase_I	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	11	18	---	---	---	---	T	234368918	C	T	234368918	3	4	275	1	0	0	0	0	1	0	0	0	4467	623	22	2	3026	2	DGKD	2	234368918	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	713176	234368918	8830455	4	10377										
ITGA1	3672	broad.mit.edu	37	chr5	52211329	52211329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ggggatggtaagacactgaaAttttttggccagtctatcca	11	7	1	2	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		Somatic					p.K631N	NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	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	9	91	---	---	---	---	T	52211329	A	T	52211329	3	4	275	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	5	10378										
CD83	9308	broad.mit.edu	37	chr6	14131839	14131839	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tcagaaggggcaaaatggttCtttcgacgcccccaatgaaa	10	10	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.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		Somatic					p.S81Y	NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	WXS	Illumina GAIIx	Phase_I	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	16	31	---	---	---	---	A	14131839	C	A	14131839	3	1	275	1	0	0	0	0	1	0	0	0	3041	913	32	3	252	3	CD83	6	14131839	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		14131839	156983228	6	10379										
UHRF1BP1	54887	broad.mit.edu	37	chr6	34835110	34835110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tggccaggggtcaccagcagCcaacagttcagtttcaccca	10	14	3	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.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		Somatic				UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	p.A1174V	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	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	8	65	---	---	---	---	T	34835110	C	T	34835110	3	4	275	1	0	0	0	0	1	0	0	0	16965	739	26	2	3583	2	UHRF1BP1	6	34835110	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	20703271	34835110	136279957	7	10380										
MUC17	140453	broad.mit.edu	37	chr7	100678493	100678493	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ctcctacaaccgctgaaggtAccagcttgccaacctcaact	6	16	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.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		Somatic					p.T1266S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	112	311	---	---	---	---	T	100678493	A	T	100678493	3	4	275	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	8	10381										
C9orf85	138241	broad.mit.edu	37	chr9	74587611	74587611	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ttttctttcatctttaggttGaataaagaaacagaaaaaat	5	4	3	3	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			Somatic				C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	p.L109F	NM_182505.3	NP_872311.2	WXS	Illumina GAIIx	Phase_I	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	3	52	---	---	---	---	T	74587611	G	T	74587611	1	4	275	0	1	0	0	0	0	0	0	0	2501	1281	45	3		3	C9orf85	9	74587611	Intron	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		74587611	66625820	9	10382										
SLC27A4	10999	broad.mit.edu	37	chr9	131112789	131112789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ccgcatggctgccctggtgtActatggattccgcatgcggc	13	13	0	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.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)	ENST00000300456.4																			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		Somatic				SLC27A4_ENST00000372870.1_Intron	p.Y271C	NM_005094.3	NP_005085.2	WXS	Illumina GAIIx	Phase_I	Q6P1M0	S27A4_HUMAN			6	929	+								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	10	16	---	---	---	---	G	131112789	A	G	131112789	3	3	275	1	0	0	0	0	1	0	0	0	14528	391	14	2	830	2	SLC27A4	9	131112789	Missense_Mutation	SNP	A	TCGA-V1-A8WW-01A-11D-A377-08	56525178	131112789	10100642	10	10383										
SIRT1	23411	broad.mit.edu	37	chr10	69666644	69666644	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tcgcaactatacccagaacaTagacacgctggaacaggttg	9	11	0	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.chr10:69666644T>A	ENST00000212015.6	+	5	1093	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000403579.1_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		Somatic				SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K	p.I347K	NM_012238.4	NP_036370.2	WXS	Illumina GAIIx	Phase_I	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	13	21	---	---	---	---	A	69666644	T	A	69666644	3	1	275	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	11	10384										
OR4C11	219429	broad.mit.edu	37	chr11	55371422	55371422	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	accctatccaggcaagaacaAtcaggatgatgcagacctgc	9	12	1	3	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		Somatic					p.I143N	NM_001004700.2	NP_001004700.2	WXS	Illumina GAIIx	Phase_I	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	4	52	---	---	---	---	T	55371422	A	T	55371422	3	4	275	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		55371422	79635094	12	10385										
OR5AN1	390195	broad.mit.edu	37	chr11	59132469	59132469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	atgtcatcagacatttcttcTgtgacatgccccaactgtta	6	11	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.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		Somatic					p.C180G	NM_001004729.1	NP_001004729.1	WXS	Illumina GAIIx	Phase_I	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	4	180	---	---	---	---	G	59132469	T	G	59132469	3	3	275	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	13	10386										
ATF7IP	55729	broad.mit.edu	37	chr12	14589075	14589075	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	gaaaacgttctaaatcagaaGacatggacaatgtacagtct	8	7	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.chr12:14589075G>A	ENST00000540793.1	+	3	1836	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	ATF7IP_ENST00000544627.1_Missense_Mutation_p.D569N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N			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		Somatic				ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N	p.D569N			WXS	Illumina GAIIx	Phase_I	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	71	31	---	---	---	---	A	14589075	G	A	14589075	3	1	275	1	0	0	0	0	1	0	0	0	1087	942	33	2	1691	2	ATF7IP	12	14589075	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08		14589075	119262820	14	10387			1	22		2	2	88	G		7.587715e-05
ATF7IP	55729	broad.mit.edu	37	chr12	14589162	14589162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	taaagattacagccaaaggaGacattaaccagaaacttcaa	6	8	1	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.chr12:14589162G>C	ENST00000540793.1	+	3	1923	c.1768G>C	c.(1768-1770)Gac>Cac	p.D590H	ATF7IP_ENST00000544627.1_Missense_Mutation_p.D598H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H			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		Somatic				ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H	p.D598H			WXS	Illumina GAIIx	Phase_I	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	101	59	---	---	---	---	C	14589162	G	C	14589162	3	2	275	1	0	0	0	0	1	0	0	0	1087	942	33	4	1778	4	ATF7IP	12	14589162	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	87	14589162	119262733	15	10388			1	22		2	2	88	G		7.587715e-05
KRT79	338785	broad.mit.edu	37	chr12	53217008	53217008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	cgcttccgcaatggccgtctGcagctgctgacactgcccag	11	16	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*		Somatic					p.Q387*	NM_175834.2	NP_787028.1	WXS	Illumina GAIIx	Phase_I	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	6	12	---	---	---	---	A	53217008	G	A	53217008	4	1	275	1	0	0	0	0	0	1	0	0	8492	1328	46	2	460	2	KRT79	12	53217008	Nonsense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	38627846	53217008	80634887	16	10389										
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	13	13	1	2	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_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank			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		Somatic				AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_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	p.E17K			WXS	Illumina GAIIx	Phase_I	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	20	10	---	---	---	---	T	105246551	C	T	105246551	3	4	275	1	0	0	0	0	1	0	0	0	478	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		105246551	2102989	17	10390										
TTBK2	146057	broad.mit.edu	37	chr15	43038000	43038000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tgcagcctggctcctatctgCtgagtttactggctggctta	11	11	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.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		Somatic					p.S1243N	NM_173500.3	NP_775771.3	WXS	Illumina GAIIx	Phase_I	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	29	56	---	---	---	---	T	43038000	C	T	43038000	3	4	275	1	0	0	0	0	1	0	0	0	16674	797	28	2	10	2	TTBK2	15	43038000	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		43038000	59493392	18	10391										
STRC	161497	broad.mit.edu	37	chr15	43901532	43901532	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	cttcttccagagaaactgtgCctacaagagaaagaaagacg	9	9	1	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.chr15:43901532C>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.(3499-3501)Gca>Tca		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			Somatic				STRC_ENST00000541030.1_Splice_Site_p.A394S	p.A1167S	NM_153700.2	NP_714544.1	WXS	Illumina GAIIx	Phase_I	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.3499G>T	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	4	68	---	---	---	---	A	43901532	C	A	43901532	5	1	275	1	0	0	0	0	0	0	1	0	15327	753	26	3	1884	3	STRC	15	43901532	Splice_Site	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08	863532	43901532	58629860	19	10392										
SLC28A1	9154	broad.mit.edu	37	chr15	85461836	85461836	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	tgcagtgggtgatcctgaagGtaagttcccagtgcccatgg	14	9	0	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_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000394573.1_Splice_Site|SLC28A1_ENST00000537216.1_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			Somatic				SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site		NM_004213.3	NP_004204.3	WXS	Illumina GAIIx	Phase_I	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	26	34	---	---	---	---	T	85461836	G	T	85461836	5	4	275	1	0	0	0	0	0	0	1	0	14531	1275	44	3	978	3	SLC28A1	15	85461836	Splice_Site	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	41560304	85461836	17069556	20	10393										
ITGAL	3683	broad.mit.edu	37	chr16	30500700	30500700	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	acaccagaagtgagagcaggCtatttgggtgagtacttctc	12	8	1	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.chr16:30500700C>A	ENST00000356798.6	+	11	1386	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G	ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_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	3683				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			Somatic				ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron	p.G402G	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	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	7	31	---	---	---	---	A	30500700	C	A	30500700	2	1	275	1	0	0	0	0	0	0	0	1	7886	784	28	3		3	ITGAL	16	30500700	Silent	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		30500700	59854053	21	10394										
TYMS	7298	broad.mit.edu	37	chr18	670815	670815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	cctcggtgtgcctttcaacaTcgccagctacgccctgctca	8	17	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.chr18:670815T>A	ENST00000323274.10	+	5	819	c.680T>A	c.(679-681)aTc>aAc	p.I227N	TYMS_ENST00000323224.7_Missense_Mutation_p.I193N|TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR	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		Somatic				TYMS_ENST00000323224.7_Missense_Mutation_p.I193N|TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR	p.I227N	NM_001071.2	NP_001062.1	WXS	Illumina GAIIx	Phase_I	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	38	31	---	---	---	---	A	670815	T	A	670815	3	1	275	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	22	10395										
MAN2B1	4125	broad.mit.edu	37	chr19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	gaactggtgggggccatccgCgtaagggaagaagtcgtcat	16	8	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.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T|MAN2B1_ENST00000495617.1_Intron	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	21	45	---	---	---	---	T	12769127	C	T	12769127	3	4	275	1	0	0	0	0	1	0	0	0	9216	768	27	2	1958	2	MAN2B1	19	12769127	Missense_Mutation	SNP	C	TCGA-V1-A8WW-01A-11D-A377-08		12769127	46359856	23	10396										
NLRP13	126204	broad.mit.edu	37	chr19	56421986	56421986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	caagacagagacccttcacaGaggaagcatgaagtttgctg	11	9	1	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.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		Somatic				NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F	p.S742F			WXS	Illumina GAIIx	Phase_I	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	8	111	---	---	---	---	A	56421986	G	A	56421986	3	1	275	1	0	0	0	0	1	0	0	0	10475	942	33	2	928	2	NLRP13	19	56421986	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	43652859	56421986	2706997	24	10397										
SLC23A2	9962	broad.mit.edu	37	chr20	4880337	4880337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	gaagggcactgcgatcgtgcCgctgaagcatgtcaggtagt	15	9	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.chr20:4880337C>T	ENST00000379333.1	-	6	738	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S	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		Somatic				SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	p.G116S	NM_203327.1	NP_976072.1	WXS	Illumina GAIIx	Phase_I	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	35	39	---	---	---	---	T	4880337	C	T	4880337	3	4	275	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	25	10398										
STAU1	6780	broad.mit.edu	37	chr20	47734393	47734393	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	catggggtacgtggcctgaaGagatgttattctttaaaatg	12	5	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.chr20:47734393G>C	ENST00000371856.2	-	11	1840	c.1430C>G	c.(1429-1431)tCt>tGt	p.S477C	STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000371828.3_Missense_Mutation_p.S402C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C	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		Somatic				STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C	p.S402C	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	C	47734393	G	C	47734393	3	2	275	1	0	0	0	0	1	0	0	0	15271	942	33	4	319	4	STAU1	20	47734393	Missense_Mutation	SNP	G	TCGA-V1-A8WW-01A-11D-A377-08	42854056	47734393	15291127	26	10399										
FANCB	2187	broad.mit.edu	37	chrX	14863074	14863074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.148148148148148	4	0.968713181754189	2.06227106227106	4.46825396825397	1.34047619047619	1	1	0	acacacaacataacgatcttTaggacagttaccactttctc	4	12	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.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		Somatic				FANCB_ENST00000324138.3_Missense_Mutation_p.K611E	p.K611E	NM_001018113.1	NP_001018123.1	WXS	Illumina GAIIx	Phase_I	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	74	12	---	---	---	---	C	14863074	T	C	14863074	3	2	275	1	0	0	0	0	1	0	0	0	5663	1763	61	2	760	2	FANCB	23	14863074	Missense_Mutation	SNP	T	TCGA-V1-A8WW-01A-11D-A377-08		14863074	140407486	27	10400										
STK39	27347	broad.mit.edu	37	chr2	169038559	169038559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctacacgttcttgcctggGtttgcatagggctgcctgaa	12	10	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.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		Somatic					p.P84T	NM_013233.2	NP_037365.2	WXS	Illumina GAIIx	Phase_I	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	10	55	---	---	---	---	T	169038559	G	T	169038559	3	4	276	1	0	0	0	0	1	0	0	0	15304	1261	44	3	1455	3	STK39	2	169038559	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		169038559	74160814	1	10401										
TMEM40	55287	broad.mit.edu	37	chr3	12785418	12785418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgggtgagccgttcccgtgGgggtatccagcccccaggct	15	15	0	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.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_ENST00000435218.2_Intron|TMEM40_ENST00000431022.2_Silent_p.P110P	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			Somatic				TMEM40_ENST00000264728.8_Silent_p.P94P|TMEM40_ENST00000431022.2_Silent_p.P110P|TMEM40_ENST00000435218.2_Intron|TMEM40_ENST00000435575.1_Intron	p.P94P	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	A	12785418	G	A	12785418	2	1	276	1	0	0	0	0	0	0	0	1	16160	1219	43	2		2	TMEM40	3	12785418	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		12785418	185237012	2	10402										
HTT	3064	broad.mit.edu	37	chr4	3205828	3205828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccaaacttggaatgtgcaatAgagaaatagtacgaagaggg	12	5	0	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.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		Somatic					p.R1891G	NM_002111.6	NP_002102	WXS	Illumina GAIIx	Phase_I	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	30	47	---	---	---	---	G	3205828	A	G	3205828	3	3	276	1	0	0	0	0	1	0	0	0	7457	412	15	2	5837	2	HTT	4	3205828	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		3205828	187948448	3	10403										
FBXO38	81545	broad.mit.edu	37	chr5	147781593	147781593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	attaaagaagatgccagatgTtgaacagctatatggccttc	9	7	0	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.chr5:147781593T>C	ENST00000340253.5	+	4	479	c.311T>C	c.(310-312)gTt>gCt	p.V104A	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A			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		Somatic				FBXO38_ENST00000296701.6_Missense_Mutation_p.V104A|FBXO38_ENST00000394370.3_Missense_Mutation_p.V104A|FBXO38_ENST00000513826.1_Missense_Mutation_p.V104A|FBXO38_ENST00000509699.2_3'UTR	p.V104A			WXS	Illumina GAIIx	Phase_I	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	20	79	---	---	---	---	C	147781593	T	C	147781593	3	2	276	1	0	0	0	0	1	0	0	0	5746	1725	60	2	321	2	FBXO38	5	147781593	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		147781593	33133667	4	10404										
NEDD9	4739	broad.mit.edu	37	chr6	11213711	11213711	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacttgatagagcttctgttGgccaaaggtctgctgcatca	10	10	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.chr6:11213711G>A	ENST00000379446.5	-	2	428	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000379433.5_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*		Somatic				RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.Q88*|NEDD9_ENST00000379433.5_Nonsense_Mutation_p.Q88*	p.Q88*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	WXS	Illumina GAIIx	Phase_I	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	3	71	---	---	---	---	A	11213711	G	A	11213711	4	1	276	1	0	0	0	0	0	1	0	0	10313	1357	47	2	2336	2	NEDD9	6	11213711	Nonsense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		11213711	159901356	5	10405										
CITED2	10370	broad.mit.edu	37	chr6	139694303	139694303	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgggctgctgtttgcacAcgaagtccgtcataaaatca	10	10	2	0			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_ENST00000537332.1_Missense_Mutation_p.V260E|CITED2_ENST00000536159.1_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		Somatic				CITED2_ENST00000537332.1_Missense_Mutation_p.V260E|CITED2_ENST00000536159.1_Missense_Mutation_p.V260E	p.V260E	NM_006079.4	NP_006070.2	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	T	139694303	A	T	139694303	3	4	276	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	6	10406										
MAP3K4	4216	broad.mit.edu	37	chr6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaaatattcgaaggcatcaAacaccccaatctggttcggt	8	10	2	0			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_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	7	165	---	---	---	---	G	161529848	A	G	161529848	3	3	276	1	0	0	0	0	1	0	0	0	9252	14	1	2	4279	2	MAP3K4	6	161529848	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08	21835545	161529848	9585219	7	10407										
UNC5D	137970	broad.mit.edu	37	chr8	35406946	35406946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggtgcaaagcgaggccagcCatgcagatattcttcaaatg	11	9	2	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.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			Somatic				UNC5D_ENST00000404895.2_Silent_p.A80A|UNC5D_ENST00000420357.1_Silent_p.A80A|UNC5D_ENST00000416672.1_Silent_p.A80A|UNC5D_ENST00000453357.2_Silent_p.A75A	p.A80A			WXS	Illumina GAIIx	Phase_I	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	11	43	---	---	---	---	T	35406946	C	T	35406946	2	4	276	1	0	0	0	0	0	0	0	1	16992	581	21	2		2	UNC5D	8	35406946	Silent	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		35406946	110957076	8	10408										
PDE7A	5150	broad.mit.edu	37	chr8	66701169	66701169	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagacaccagatcaatgtaAttcccattggatcaatcaaa	5	11	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.chr8:66701169A>C	ENST00000401827.3	-	2	582				PDE7A_ENST00000379419.4_Missense_Mutation_p.I3S|PDE7A_ENST00000396642.3_Intron	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			Somatic				PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron	p.I3S	NM_002603.3	NP_002594.1	WXS	Illumina GAIIx	Phase_I	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	38	87	---	---	---	---	C	66701169	A	C	66701169	1	2	276	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	9	10409										
UAP1L1	91373	broad.mit.edu	37	chr9	139975261	139975261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgctcacccagcactaccgGtgggctctgcgggccggggc	15	16	2	0			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			Somatic				UAP1L1_ENST00000360271.3_Silent_p.R310R	p.R433R	NM_207309.2	NP_997192.2	WXS	Illumina GAIIx	Phase_I	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	10	33	---	---	---	---	A	139975261	G	A	139975261	2	1	276	1	0	0	0	0	0	0	0	1	16823	1248	44	2		2	UAP1L1	9	139975261	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		139975261	1238170	10	10410										
RBP3	5949	broad.mit.edu	37	chr10	48388029	48388029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcggcagaggcatagttaTcagccaccagcttcccggcc	11	15	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.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		Somatic					p.D950G	NM_002900.2	NP_002891.1	WXS	Illumina GAIIx	Phase_I	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	20	38	---	---	---	---	C	48388029	T	C	48388029	3	2	276	1	0	0	0	0	1	0	0	0	13157	1435	50	2	910	2	RBP3	10	48388029	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		48388029	87146718	11	10411										
CDH23	64072	broad.mit.edu	37	chr10	73326638	73326638	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgcggtatcgtcacagtgaTccgggagctggactacgaga	14	11	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.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		Somatic				CDH23_ENST00000398809.4_Missense_Mutation_p.I190N|CDH23_ENST00000461841.3_Missense_Mutation_p.I235N|CDH23_ENST00000398842.3_Missense_Mutation_p.I190N|CDH23_ENST00000299366.7_Missense_Mutation_p.I235N	p.I195N	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	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	5	36	---	---	---	---	A	73326638	T	A	73326638	3	1	276	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	12	10412										
HBD	3045	broad.mit.edu	37	chr11	5255334	5255334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcactaaaggcacctagcaCcttcttgccatgagccttca	6	14	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.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		Somatic				HBD_ENST00000292901.3_Missense_Mutation_p.V68M	p.V68M	NM_000519.3	NP_000510.1	WXS	Illumina GAIIx	Phase_I	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	4	102	---	---	---	---	T	5255334	C	T	5255334	3	4	276	1	0	0	0	0	1	0	0	0	6979	507	18	2	249	2	HBD	11	5255334	Missense_Mutation	SNP	C	TCGA-V1-A8X3-01A-11D-A377-08		5255334	129751182	13	10413										
NOX4	50507	broad.mit.edu	37	chr11	89070616	89070616	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gataacatcaaccacataccTgtatcccatctgtttgactg	5	12	2	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.chr11:89070616T>A	ENST00000263317.4	-	16	1752	c.1514A>T	c.(1513-1515)cAg>cTg	p.Q505L	NOX4_ENST00000534731.1_Splice_Site_p.Q465L|NOX4_ENST00000535633.1_Splice_Site_p.Q481L|NOX4_ENST00000532825.1_Splice_Site_p.Q441L|NOX4_ENST00000528341.1_Splice_Site_p.Q480L|NOX4_ENST00000531342.1_Splice_Site_p.Q158L|NOX4_ENST00000542487.1_Splice_Site_p.Q481L|NOX4_ENST00000413594.2_Splice_Site_p.Q526L|NOX4_ENST00000527626.1_Splice_Site_p.Q318L|NOX4_ENST00000375979.3_Splice_Site_p.Q198L|NOX4_ENST00000525196.1_Splice_Site_p.Q269L|NOX4_ENST00000424319.1_Splice_Site_p.Q481L|NOX4_ENST00000527956.1_Splice_Site_p.Q481L|NOX4_ENST00000343727.5_Splice_Site_p.Q481L			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.(1441-1443)cAg>cTg		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			Somatic				NOX4_ENST00000343727.5_Splice_Site_p.Q481L|NOX4_ENST00000532825.1_Splice_Site_p.Q441L|NOX4_ENST00000534731.1_Splice_Site_p.Q465L|NOX4_ENST00000527956.1_Splice_Site_p.Q481L|NOX4_ENST00000531342.1_Splice_Site_p.Q158L|NOX4_ENST00000413594.2_Splice_Site_p.Q526L|NOX4_ENST00000375979.3_Splice_Site_p.Q198L|NOX4_ENST00000424319.1_Splice_Site_p.Q481L|NOX4_ENST00000525196.1_Splice_Site_p.Q269L|NOX4_ENST00000527626.1_Splice_Site_p.Q318L|NOX4_ENST00000542487.1_Splice_Site_p.Q481L|NOX4_ENST00000263317.4_Splice_Site_p.Q505L|NOX4_ENST00000528341.1_Splice_Site_p.Q480L	p.Q481L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina GAIIx	Phase_I	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.1442A>T	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	3	49	---	---	---	---	A	89070616	T	A	89070616	5	1	276	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	14	10414										
ACVRL1	94	broad.mit.edu	37	chr12	52306277	52306277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccatgaccttgggctcccccAggaaaggccttctgatgctg	11	14	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		Somatic				ACVRL1_ENST00000419526.2_Missense_Mutation_p.R21G|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R7G	p.R21G	NM_001077401.1	NP_001070869.1	WXS	Illumina GAIIx	Phase_I	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	5	26	---	---	---	---	G	52306277	A	G	52306277	3	3	276	1	0	0	0	0	1	0	0	0	225	179	7	2	21	2	ACVRL1	12	52306277	Missense_Mutation	SNP	A	TCGA-V1-A8X3-01A-11D-A377-08		52306277	81545618	15	10415										
ADCY4	196883	broad.mit.edu	37	chr14	24791404	24791404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ctcagcttcttcttccacagGaagtccaggcggcagtagta	10	12	3	0			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			Somatic				ADCY4_ENST00000554068.2_Silent_p.F818F|ADCY4_ENST00000418030.2_Silent_p.F818F	p.F818F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina GAIIx	Phase_I	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	6	107	---	---	---	---	A	24791404	G	A	24791404	2	1	276	1	0	0	0	0	0	0	0	1	296	1165	41	2		2	ADCY4	14	24791404	Silent	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08		24791404	82558136	16	10416										
KIAA0391	9692	broad.mit.edu	37	chr14	35592719	35592719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atttttttttagctggagcaGctaaggagagatcacagatg	11	5	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.chr14:35592719G>A	ENST00000557565.1	+	2	649	c.268G>A	c.(268-270)Gct>Act	p.A90T	KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000604948.1_5'UTR|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000603588.1_Intron	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		Somatic				KIAA0391_ENST00000321130.10_Missense_Mutation_p.A90T|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.A90T|KIAA0391_ENST00000604948.1_5'UTR|KIAA0391_ENST00000534898.4_Missense_Mutation_p.A90T|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron	p.A90T	NM_001282234.1	NP_001269163.1	WXS	Illumina GAIIx	Phase_I	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	3	41	---	---	---	---	A	35592719	G	A	35592719	3	1	276	1	0	0	0	0	1	0	0	0	8172	971	34	2	270	2	KIAA0391	14	35592719	Missense_Mutation	SNP	G	TCGA-V1-A8X3-01A-11D-A377-08	10801315	35592719	71756821	17	10417										
RYR3	6263	broad.mit.edu	37	chr15	34157424	34157424	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caatatgaagatcagcttggAtaaatctgaatcaaagaagc	8	6	3	4	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	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Silent_p.G4865G|AVEN_ENST00000558136.1_5'Flank	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			Somatic				RYR3_ENST00000415757.3_Silent_p.G4865G	p.G4870G	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	C	34157424	A	C	34157424	2	2	276	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		34157424	68373968	18	10418										
MXRA5	25878	broad.mit.edu	37	chrX	3240659	3240659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgggacacctggttcccctaTagtagaatcctcaaataact	7	11	1	1	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		Somatic					p.I1023V	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	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	45	26	---	---	---	---	C	3240659	T	C	3240659	3	2	276	1	0	0	0	0	1	0	0	0	10003	1406	49	2	5431	2	MXRA5	23	3240659	Missense_Mutation	SNP	T	TCGA-V1-A8X3-01A-11D-A377-08		3240659	152029901	19	10419										
HFM1	164045	broad.mit.edu	37	chr1	91859787	91859787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	tgagaagcatatgtcagcttGccagcaatatgtgataagtc	10	7	1	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.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			Somatic				HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.G119G	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	8	70	---	---	---	---	A	91859787	G	A	91859787	2	1	277	1	0	0	0	0	0	0	0	1	7083	1306	46	2		2	HFM1	1	91859787	Silent	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		91859787	157390834	1	10420										
GON4L	54856	broad.mit.edu	37	chr1	155732049	155732049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	tggatctcgctcgagaatgtCctcatcatacagcaacagca	8	12	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_ENST00000437809.1_Missense_Mutation_p.D1615N|GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000471341.1_5'Flank	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		Somatic				GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N	p.D1615N	NM_001282856.1	NP_001269785.1	WXS	Illumina GAIIx	Phase_I	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	3	25	---	---	---	---	T	155732049	C	T	155732049	3	4	277	1	0	0	0	0	1	0	0	0	6572	855	30	2	1919	2	GON4L	1	155732049	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08	63872262	155732049	93518572	2	10421										
TM4SF4	7104	broad.mit.edu	37	chr3	149192703	149192703	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	gccagatgcctgggggggacCctcattccccttgctttttt	11	13	1	1	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			Somatic					p.T13T	NM_004617.3	NP_004608.1	WXS	Illumina GAIIx	Phase_I	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	3	36	---	---	---	---	G	149192703	C	G	149192703	2	3	277	1	0	0	0	0	0	0	0	1	15967	610	22	4		4	TM4SF4	3	149192703	Silent	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		149192703	48829727	3	10422										
PDS5A	23244	broad.mit.edu	37	chr4	39978175	39978175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	cacagagggcagtggcaggcTtgggctgcgcggtgaagtcc	18	10	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	6	68	---	---	---	---	C	39978175	T	C	39978175	3	2	277	1	0	0	0	0	1	0	0	0	11691	1609	56	2	4151	2	PDS5A	4	39978175	Missense_Mutation	SNP	T	TCGA-VN-A88I-01A-11D-A34U-08		39978175	151176101	4	10423										
HDAC3	8841	broad.mit.edu	37	chr5	141005259	141005259	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	ctgagctgctgacctggcgtGagttctgattctcgatgcgg	14	10	2	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.chr5:141005259G>A	ENST00000305264.3	-	13	1131	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	HDAC3_ENST00000469207.1_Intron|AC008781.7_ENST00000422040.2_RNA	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		Somatic				AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_Intron	p.S351L	NM_003883.3	NP_003874.2	WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	A	141005259	G	A	141005259	3	1	277	1	0	0	0	0	1	0	0	0	7008	1294	45	2	246	2	HDAC3	5	141005259	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		141005259	39910001	5	10424										
GNL1	2794	broad.mit.edu	37	chr6	30515194	30515194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	gtcacagagcttcacagaggGggtaagaaagtaggtctgaa	14	6	3	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.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		Somatic					p.P405S	NM_005275.3	NP_005266.2	WXS	Illumina GAIIx	Phase_I	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	21	197	---	---	---	---	A	30515194	G	A	30515194	3	1	277	1	0	0	0	0	1	0	0	0	6535	1232	43	2	626	2	GNL1	6	30515194	Missense_Mutation	SNP	G	TCGA-VN-A88I-01A-11D-A34U-08		30515194	140599873	6	10425										
C9orf9	11092	broad.mit.edu	37	chr9	135765348	135765348	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	gtttttcccttcacaggggaCgacttagcttctgtattatt	8	9	2	0	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_ENST00000350499.6_Missense_Mutation_p.T167M|C9orf9_ENST00000356311.5_3'UTR			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			Somatic				C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR	p.T167M	NM_018956.3	NP_061829.3	WXS	Illumina GAIIx	Phase_I	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	21	303	---	---	---	---	T	135765348	C	T	135765348	1	4	277	0	1	0	0	0	0	0	0	0	2504	536	19	2		2	C9orf9	9	135765348	3'UTR	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		135765348	5448083	7	10426										
GLI1	2735	broad.mit.edu	37	chr12	57864213	57864213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	gccgctcctccctggcctctCctttcccccctggctcccca	6	24	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.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		Somatic				GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S	p.P564S	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	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	5	42	---	---	---	---	T	57864213	C	T	57864213	3	4	277	1	0	0	0	0	1	0	0	0	6437	855	30	2	1732	2	GLI1	12	57864213	Missense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		57864213	75987682	8	10427										
TMEM5	10329	broad.mit.edu	37	chr12	64199185	64199186	+	Splice_Site	INS	-	-	T													0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	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			Somatic				TMEM5_ENST00000261234.6_Splice_Site		NM_001278237.1	NP_001265166.1	WXS	Illumina GAIIx	Phase_I	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	277	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	9	10428										
ZC3H13	23091	broad.mit.edu	37	chr13	46554093	46554093	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	cagctgtcatgatagttgctAttactactgtgactatcaat	7	8	2	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.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		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K	p.N589K			WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	C	46554093	A	C	46554093	3	2	277	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	10	10429										
MGA	23269	broad.mit.edu	37	chr15	42003250	42003250	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	gtttcaccaaagcagaaataCtctcatgtgattctaggaga	8	8	3	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.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_ENST00000545763.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000219905.7_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*		Somatic				MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*	p.Y929*	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	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	12	100	---	---	---	---	G	42003250	C	G	42003250	4	3	277	1	0	0	0	0	0	1	0	0	9540	576	20	4	2813	4	MGA	15	42003250	Nonsense_Mutation	SNP	C	TCGA-VN-A88I-01A-11D-A34U-08		42003250	60528142	11	10430										
ZNF585B	92285	broad.mit.edu	37	chr19	37677872	37677873	+	Frame_Shift_Ins	INS	-	-	T													0.0833333333333333	1	1	0.712837837837838	0	0.95045045045045	1	1	0	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_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_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)aatfs		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		Somatic				ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.N134fs|CTC-454I21.3_ENST00000585860.2_Intron	p.N189fs	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	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	277	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		37677872	21451111	12	10431										
NMNAT1	64802	broad.mit.edu	37	chr1	10032159	10032159	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	attccgagaagactgaagtgGttctccttgcttgtggttca	11	8	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.chr1:10032159G>C	ENST00000377205.1	+	2	172	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L|NMNAT1_ENST00000492735.1_3'UTR	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		Somatic				NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L|NMNAT1_ENST00000492735.1_3'UTR	p.V10L	NM_022787.3	NP_073624.2	WXS	Illumina GAIIx	Phase_I	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	79	140	---	---	---	---	C	10032159	G	C	10032159	3	2	278	1	0	0	0	0	1	0	0	0	10498	1261	44	4	30	4	NMNAT1	1	10032159	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		10032159	239218462	1	10432										
C1orf129	80133	broad.mit.edu	37	chr1	170965648	170965648	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gctctcttttggggctttagGtatgcccaggatgccctgag	13	10	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.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.(1336-1338)ttG>ttC		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			Somatic				MROH9_ENST00000367758.3_Splice_Site_p.L446F	p.L446F	NM_001163629.1	NP_001157101.1	WXS	Illumina GAIIx	Phase_I					14	1492	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	ENST00000367758.3	37	c.1338G>C	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	4	122	---	---	---	---	C	170965648	G	C	170965648	5	2	278	1	0	0	0	0	0	0	1	0	1996	1275	44	4	1388	4	C1orf129	1	170965648	Splice_Site	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	160933489	170965648	78284973	2	10433										
ZNF131	7690	broad.mit.edu	37	chr5	43175082	43175082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gtgaccccagaaatcatgaaCcaagaggagagagagtctag	12	8	2	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.chr5:43175082C>T	ENST00000399534.1	+	7	1763	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000509634.1_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Silent_p.N539N			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			Somatic				ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron	p.N539N			WXS	Illumina GAIIx	Phase_I	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	24	34	---	---	---	---	T	43175082	C	T	43175082	2	4	278	1	0	0	0	0	0	0	0	1	17718	506	18	2		2	ZNF131	5	43175082	Silent	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		43175082	137740178	3	10434										
GRM1	2911	broad.mit.edu	37	chr6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	cttccatggtggtgcacaggCgcgtgccaagcgcggcgacc	15	14	0	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.chr6:146755288C>T	ENST00000282753.1	+	8	3176	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R981C|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_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		Somatic				GRM1_ENST00000282753.1_Missense_Mutation_p.R981C|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.R981C	NM_001278064.1	NP_001264993.1	WXS	Illumina GAIIx	Phase_I	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	48	79	---	---	---	---	T	146755288	C	T	146755288	3	4	278	1	0	0	0	0	1	0	0	0	6796	768	27	2	3036	2	GRM1	6	146755288	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		146755288	24359779	4	10435										
ANKIB1	54467	broad.mit.edu	37	chr7	92027931	92027931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	tcatggcttggtttcatgacAtgaaccctcagagtattgcc	9	10	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.chr7:92027931A>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		Somatic					p.M980V	NM_019004.1	NP_061877.1	WXS	Illumina GAIIx	Phase_I	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	31	47	---	---	---	---	G	92027931	A	G	92027931	3	3	278	1	0	0	0	0	1	0	0	0	630	217	8	2	3012	2	ANKIB1	7	92027931	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08		92027931	67110732	5	10436										
FBXO24	26261	broad.mit.edu	37	chr7	100190516	100190516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	agcagccgggcctgtgactgTgttgaggtctatctgcagtc	14	10	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.chr7:100190516T>C	ENST00000241071.6	+	5	991	c.669T>C	c.(667-669)tgT>tgC	p.C223C	FBXO24_ENST00000360609.2_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Silent_p.C209C|FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C	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			Somatic				FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|FBXO24_ENST00000427939.2_Silent_p.C261C	p.C223C	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	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	21	24	---	---	---	---	C	100190516	T	C	100190516	2	2	278	1	0	0	0	0	0	0	0	1	5735	1702	59	2		2	FBXO24	7	100190516	Silent	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08	8162585	100190516	58948147	6	10437										
OR6V1	346517	broad.mit.edu	37	chr7	142750093	142750093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	cctcatctcctatggctacaTagtgaccactgtgctgcgga	9	13	2	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.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		Somatic					p.I219T	NM_001001667.1	NP_001001667.1	WXS	Illumina GAIIx	Phase_I	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	4	169	---	---	---	---	C	142750093	T	C	142750093	3	2	278	1	0	0	0	0	1	0	0	0	11211	1406	49	2	658	2	OR6V1	7	142750093	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08	42559577	142750093	16388570	7	10438										
ARFGEF1	10565	broad.mit.edu	37	chr8	68139818	68139818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	aaaaatagctacatcttcatTaggattacacccaacctgta	4	10	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.chr8:68139818T>C	ENST00000262215.3	-	26	3996	c.3607A>G	c.(3607-3609)Aat>Gat	p.N1203D	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D	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		Somatic				ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	p.N1203D	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	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	46	52	---	---	---	---	C	68139818	T	C	68139818	3	2	278	1	0	0	0	0	1	0	0	0	852	1754	61	2	1998	2	ARFGEF1	8	68139818	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08		68139818	78224204	8	10439										
SH2D3C	10044	broad.mit.edu	37	chr9	130507029	130507029	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gggactgtgaaggtcttgccCcagtccccttcaggggcccc	13	15	2	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.chr9:130507029C>T	ENST00000314830.8	-	7	1727	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*	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*		Somatic				SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*	p.W538*	NM_170600.2	NP_733745.1	WXS	Illumina GAIIx	Phase_I	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	69	129	---	---	---	---	T	130507029	C	T	130507029	4	4	278	1	0	0	0	0	0	1	0	0	14234	624	22	2	992	2	SH2D3C	9	130507029	Nonsense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		130507029	10706402	9	10440										
INPP5E	56623	broad.mit.edu	37	chr9	139329254	139329254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gttccggtctgggaagtagcGggccagctcatccgccccca	13	15	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.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		Somatic					p.R292C	NM_019892.4	NP_063945.2	WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	A	139329254	G	A	139329254	3	1	278	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	10	10441										
OR52A1	23538	broad.mit.edu	37	chr11	5173454	5173454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	tgcgctcagatttgatgatgCtcagaagcaaggaatttcca	10	8	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.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		Somatic				OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N	p.S49N			WXS	Illumina GAIIx	Phase_I	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	26	40	---	---	---	---	T	5173454	C	T	5173454	3	4	278	1	0	0	0	0	1	0	0	0	11108	797	28	2	794	2	OR52A1	11	5173454	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		5173454	129833062	11	10442										
UBQLN3	50613	broad.mit.edu	37	chr11	5529067	5529067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gggaacacctcaggaggtggAtttgggagaggatcctcaga	16	7	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.chr11:5529067A>C	ENST00000311659.4	-	2	1869	c.1722T>G	c.(1720-1722)aaT>aaG	p.N574K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	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		Somatic				HBG2_ENST00000380259.2_Intron	p.N574K	NM_017481.2	NP_059509.1	WXS	Illumina GAIIx	Phase_I	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	22	26	---	---	---	---	C	5529067	A	C	5529067	3	2	278	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	12	10443										
CLEC6A	93978	broad.mit.edu	37	chr12	8618186	8618186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	gagcagaactgtgttgagatGggagcacatttggttgtgtt	15	4	0	2	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		Somatic					p.M110I	NM_001007033.1	NP_001007034.1	WXS	Illumina GAIIx	Phase_I	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	8	69	---	---	---	---	T	8618186	G	T	8618186	3	4	278	1	0	0	0	0	1	0	0	0	3520	1348	47	1	344	1	CLEC6A	12	8618186	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08		8618186	125233709	13	10444										
STAB2	55576	broad.mit.edu	37	chr12	104048409	104048409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	aggggacatcattgcttccaAtgggcttctgcacatccttg	10	11	2	0	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		Somatic					p.N495S	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	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	32	44	---	---	---	---	G	104048409	A	G	104048409	3	3	278	1	0	0	0	0	1	0	0	0	15237	101	4	2	1534	2	STAB2	12	104048409	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08	95430223	104048409	29803486	14	10445										
GLT8D2	83468	broad.mit.edu	37	chr12	104387275	104387275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	tcccagggagctgctatagaGgttttccctaagaaatgaaa	10	8	0	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.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		Somatic				GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	p.L259I	NM_031302.3	NP_112592.1	WXS	Illumina GAIIx	Phase_I	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	3	18	---	---	---	---	T	104387275	G	T	104387275	3	4	278	1	0	0	0	0	1	0	0	0	6470	1000	35	1	282	1	GLT8D2	12	104387275	Missense_Mutation	SNP	G	TCGA-VN-A88K-01A-11D-A34U-08	338866	104387275	29464620	15	10446										
PHKB	5257	broad.mit.edu	37	chr16	47697603	47697603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	tctaggtaccgtttctgatcAcattgagagagtctatagaa	9	7	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.chr16:47697603A>G	ENST00000323584.5	+	24	2318	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R	PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R|PHKB_ENST00000455779.1_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		Somatic				PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R	p.H758R			WXS	Illumina GAIIx	Phase_I	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	36	49	---	---	---	---	G	47697603	A	G	47697603	3	3	278	1	0	0	0	0	1	0	0	0	11845	159	6	2	2447	2	PHKB	16	47697603	Missense_Mutation	SNP	A	TCGA-VN-A88K-01A-11D-A34U-08		47697603	42657150	16	10447										
MBTPS1	8720	broad.mit.edu	37	chr16	84124506	84124506	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	agaggtccgtcattgccaatAgcagaaaccatgattacatt	8	9	1	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.chr16:84124506A>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			Somatic				MBTPS1_ENST00000569770.1_5'UTR	p.A335A	NM_003791.2	NP_003782.1	WXS	Illumina GAIIx	Phase_I	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	11	72	---	---	---	---	T	84124506	A	T	84124506	2	4	278	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	17	10448										
CACNA1A	773	broad.mit.edu	37	chr19	13366064	13366064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	ggcgctgatggcgaaatcaaTgcaggccctctgcgggagag	16	10	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.chr19:13366064T>C	ENST00000360228.5	-	29	4599	c.4600A>G	c.(4600-4602)Att>Gtt	p.I1534V	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	10	13	---	---	---	---	C	13366064	T	C	13366064	3	2	278	1	0	0	0	0	1	0	0	0	2538	1464	51	2	3098	2	CACNA1A	19	13366064	Missense_Mutation	SNP	T	TCGA-VN-A88K-01A-11D-A34U-08		13366064	45762919	18	10449										
RNF113A	7737	broad.mit.edu	37	chrX	119005303	119005303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	1	1	0.698630136986301	0	0.931506849315068	1	1	0	cacgccgagactctcgggctCattttcctcttcctcttcgc	7	17	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.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		Somatic					p.E92K	NM_006978.2	NP_008909.1	WXS	Illumina GAIIx	Phase_I	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	116	26	---	---	---	---	T	119005303	C	T	119005303	3	4	278	1	0	0	0	0	1	0	0	0	13427	835	29	2	761	2	RNF113A	23	119005303	Missense_Mutation	SNP	C	TCGA-VN-A88K-01A-11D-A34U-08		119005303	36265257	19	10450										
C1orf173	127254	broad.mit.edu	37	chr1	75037029	75037029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ccactcccagtggctgcctcCtggccctctgacccttcctc	7	21	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.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			Somatic				C1orf173_ENST00000433746.2_5'UTR	p.Q1455Q	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	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	8	72	---	---	---	---	T	75037029	C	T	75037029	2	4	279	1	0	0	0	0	0	0	0	1	2014	680	24	2		2	C1orf173	1	75037029	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		75037029	174213592	1	10451										
HHAT	55733	broad.mit.edu	37	chr1	210637880	210637880	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ttagcccaggtgctctttttCtacgtgaagtacttggtgct	10	9	2	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.chr1:210637880C>T	ENST00000367010.1	+	8	1115	c.888C>T	c.(886-888)ttC>ttT	p.F296F	HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.F159F	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			Somatic				HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F|HHAT_ENST00000367009.1_5'UTR	p.F296F	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	33	148	---	---	---	---	T	210637880	C	T	210637880	2	4	279	1	0	0	0	0	0	0	0	1	7089	912	32	2		2	HHAT	1	210637880	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	135600851	210637880	38612741	2	10452			1	23		2	2	36	C		2.261193e-05
HHAT	55733	broad.mit.edu	37	chr1	210637915	210637915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ggtgctctttggcgtgcctgCtctgctcatgcgcctggatg	14	12	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.chr1:210637915C>T	ENST00000367010.1	+	8	1150	c.923C>T	c.(922-924)gCt>gTt	p.A308V	HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V	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		Somatic				HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V|HHAT_ENST00000367009.1_5'UTR	p.A308V	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	24	121	---	---	---	---	T	210637915	C	T	210637915	3	4	279	1	0	0	0	0	1	0	0	0	7089	797	28	2	1047	2	HHAT	1	210637915	Missense_Mutation	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08	35	210637915	38612706	3	10453			1	23		2	2	36	C		2.261193e-05
RYR2	6262	broad.mit.edu	37	chr1	237923150	237923150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gccggcctgatgcagtcatgTaggtaaggactcacttcctt	11	11	2	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.chr1:237923150T>C	ENST00000366574.2	+	83	11717	c.11400T>C	c.(11398-11400)tgT>tgC	p.C3800C	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C	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			Somatic				RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.C3806C|RYR2_ENST00000542537.1_Silent_p.C3784C	p.C3800C	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---	C	237923150	T	C	237923150	2	2	279	1	0	0	0	0	0	0	0	1	13769	1644	57	2		2	RYR2	1	237923150	Silent	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08	27285235	237923150	11327471	4	10454										
ANK2	287	broad.mit.edu	37	chr4	114274943	114274943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gaaggtttacaagctagtgcAgagaaagctgaacttaaaaa	10	5	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.chr4:114274943A>G	ENST00000357077.4	+	38	5222	c.5169A>G	c.(5167-5169)gcA>gcG	p.A1723A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	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			Somatic				ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	p.A1723A	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	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	13	209	---	---	---	---	G	114274943	A	G	114274943	2	3	279	1	0	0	0	0	0	0	0	1	621	175	7	2		2	ANK2	4	114274943	Silent	SNP	A	TCGA-VN-A88L-01A-11D-A34U-08		114274943	76879333	5	10455										
HHIP	64399	broad.mit.edu	37	chr4	145580946	145580946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ctgaaggagaaattttcaagGagccttatttggacattcac	9	7	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.chr4:145580946G>A	ENST00000296575.3	+	4	1442	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K	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		Somatic				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP_ENST00000511314.1_3'UTR	p.E263K	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	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	6	112	---	---	---	---	A	145580946	G	A	145580946	3	1	279	1	0	0	0	0	1	0	0	0	7092	1175	41	2	801	2	HHIP	4	145580946	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	31306003	145580946	45573330	6	10456										
GRM1	2911	broad.mit.edu	37	chr6	146350830	146350830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gtccatcaccagcctccggcCgagaaagtgcccgagaggaa	12	14	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.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			Somatic				GRM1_ENST00000355289.4_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000361719.2_Silent_p.A59A	p.A59A			WXS	Illumina GAIIx	Phase_I	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	5	65	---	---	---	---	T	146350830	C	T	146350830	2	4	279	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	7	10457										
RUNDC3B	154661	broad.mit.edu	37	chr7	87369182	87369182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ggcatgcttctaggactcaaTgctattgatttcaggtactt	9	8	3	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.chr7:87369182T>C	ENST00000338056.3	+	6	996	c.585T>C	c.(583-585)aaT>aaC	p.N195N	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000394654.3_Silent_p.N178N	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	4	43	---	---	---	---	C	87369182	T	C	87369182	2	2	279	1	0	0	0	0	0	0	0	1	13745	1461	51	2		2	RUNDC3B	7	87369182	Silent	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		87369182	71769481	8	10458										
MLL3	58508	broad.mit.edu	37	chr7	151962178	151962178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ccaacctgcacgttttaatgGagtaaccgctatatccaggc	8	12	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.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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T	p.P377T			WXS	Illumina GAIIx	Phase_I					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	28	528	---	---	---	---	T	151962178	G	T	151962178	3	4	279	1	0	0	0	0	1	0	0	0	9622	1174	41	3	13814	3	MLL3	7	151962178	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	64592996	151962178	7176485	9	10459										
MTFR1	9650	broad.mit.edu	37	chr8	66619384	66619384	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gaacgaagagagaaaagagcCaatgctggaaagactttggt	13	5	0	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.chr8:66619384C>A	ENST00000262146.4	+	6	783	c.657C>A	c.(655-657)gcC>gcA	p.A219A	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A186A	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			Somatic				MTFR1_ENST00000458689.2_Silent_p.A186A|MTFR1_ENST00000517944.1_3'UTR	p.A219A	NM_014637.3	NP_055452.3	WXS	Illumina GAIIx	Phase_I	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	4	73	---	---	---	---	A	66619384	C	A	66619384	2	1	279	1	0	0	0	0	0	0	0	1	9925	581	21	1		1	MTFR1	8	66619384	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		66619384	79744638	10	10460										
ZFPM2	23414	broad.mit.edu	37	chr8	106456601	106456601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	agttgagacagacgactgggAtggaccaggtaggggagaat	17	5	0	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.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		Somatic				ZFPM2_ENST00000520492.1_5'UTR	p.D98A	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	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	3	12	---	---	---	---	C	106456601	A	C	106456601	3	2	279	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	11	10461										
DCAF10	79269	broad.mit.edu	37	chr9	37801316	37801316	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	tttcgcaccatgactagcctCtacggttccatccaccccgc	6	18	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.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			Somatic				RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L	p.L151L			WXS	Illumina GAIIx	Phase_I	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	4	9	---	---	---	---	G	37801316	C	G	37801316	2	3	279	1	0	0	0	0	0	0	0	1	4261	900	32	4		4	DCAF10	9	37801316	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		37801316	103412115	12	10462										
CATSPER1	117144	broad.mit.edu	37	chr11	65789325	65789325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	acgtagatgcagaagaatatGgagtccaaggccatgaagta	12	6	0	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.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			Somatic					p.S485S	NM_053054.3	NP_444282.3	WXS	Illumina GAIIx	Phase_I	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	22	50	---	---	---	---	A	65789325	G	A	65789325	2	1	279	1	0	0	0	0	0	0	0	1	2687	1335	47	2		2	CATSPER1	11	65789325	Silent	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08		65789325	69217191	13	10463										
NCKAP1L	3071	broad.mit.edu	37	chr12	54925128	54925128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gtggcatgtgacctctcagaTtgtggagctgaaggtactat	13	7	1	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		Somatic				NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T	p.I864T	NM_005337.4	NP_005328.2	WXS	Illumina GAIIx	Phase_I	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	4	217	---	---	---	---	C	54925128	T	C	54925128	3	2	279	1	0	0	0	0	1	0	0	0	10222	1493	52	2	2681	2	NCKAP1L	12	54925128	Missense_Mutation	SNP	T	TCGA-VN-A88L-01A-11D-A34U-08		54925128	78926767	14	10464										
AP1G2	8906	broad.mit.edu	37	chr14	24035556	24035556	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ggggccaggtctcggcacatCtcagcagagcccatggtgct	14	13	2	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.chr14:24035556C>T	ENST00000308724.5	-	3	1157	c.402G>A	c.(400-402)gaG>gaA	p.E134E	AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	21	44	---	---	---	---	T	24035556	C	T	24035556	2	4	279	1	0	0	0	0	0	0	0	1	733	912	32	2		2	AP1G2	14	24035556	Silent	SNP	C	TCGA-VN-A88L-01A-11D-A34U-08		24035556	83313984	15	10465										
HYDIN	54768	broad.mit.edu	37	chr16	70902478	70902478	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	gatgtccccacttacttttcGttttgtagtgaaagtcccag	8	10	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.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*		Somatic					p.R3769*	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	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	8	21	---	---	---	---	A	70902478	G	A	70902478	4	1	279	1	0	0	0	0	0	1	0	0	7467	1153	40	2	4144	2	HYDIN	16	70902478	Nonsense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08		70902478	19452275	16	10466										
AP1G1	164	broad.mit.edu	37	chr16	71779049	71779049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	agctccagactgcctcacctGtaaggttgatgtctcccagc	9	14	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.chr16:71779049G>A	ENST00000299980.4	-	19	2438	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I	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		Somatic				AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I	p.T666I	NM_001128.5	NP_001119.3	WXS	Illumina GAIIx	Phase_I	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	8	88	---	---	---	---	A	71779049	G	A	71779049	3	1	279	1	0	0	0	0	1	0	0	0	732	1377	48	2	491	2	AP1G1	16	71779049	Missense_Mutation	SNP	G	TCGA-VN-A88L-01A-11D-A34U-08	876571	71779049	18575704	17	10467										
RASD1	51655	broad.mit.edu	37	chr17	17398953	17398953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	tgagccgctgcacctcctcgAaggagtcgcggttgtccaga	13	13	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.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		Somatic				RASD1_ENST00000579152.1_Intron	p.F111S	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---	G	17398953	A	G	17398953	3	3	279	1	0	0	0	0	1	0	0	0	13066	246	9	2	517	2	RASD1	17	17398953	Missense_Mutation	SNP	A	TCGA-VN-A88L-01A-11D-A34U-08		17398953	63796257	18	10468										
LAMA5	3911	broad.mit.edu	37	chr20	60887497	60887497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	ggcgctcacgcctgtcgtgtTcagccgcttgaggtccacat	12	14	2	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.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		Somatic					p.N3107H	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	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	4	9	---	---	---	---	G	60887497	T	G	60887497	3	3	279	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	19	10469										
TNRC6B	23112	broad.mit.edu	37	chr22	40708548	40708548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.15	3	0.968713181754189	2.21896551724138	7.39655172413793	1.64367816091954	1	1	0	atggaaaggtatccaaaacaTtgaccctgaatctgacccct	7	11	1	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.chr22:40708548T>G	ENST00000454349.2	+	18	4686	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S	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		Somatic				TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S	p.I1492S	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	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	5	93	---	---	---	---	G	40708548	T	G	40708548	3	3	279	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	20	10470										
IFI16	3428	broad.mit.edu	37	chr1	159021837	159021837	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	actcctaaaatcaatcagctTtgctcacaaactaaaggaag	5	10	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.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000359709.3_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			Somatic				IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L	p.L678L			WXS	Illumina GAIIx	Phase_I	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	35	53	---	---	---	---	G	159021837	T	G	159021837	2	3	280	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	10471			1	24		2	2	12	N	T_C	6.751329e-06
IFI16	3428	broad.mit.edu	37	chr1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	caatcagctttgctcacaaaCtaaaggaagttttgtgaatg	8	7	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.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000359709.3_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		Somatic				IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N	p.T682N			WXS	Illumina GAIIx	Phase_I	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	36	54	---	---	---	---	A	159021848	C	A	159021848	3	1	280	1	0	0	0	0	1	0	0	0	7511	565	20	3	1907	3	IFI16	1	159021848	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	11	159021848	90228773	2	10472			1	24		2	2	12	N	T_C	6.751329e-06
SELP	6403	broad.mit.edu	37	chr1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	cactctgtagccgggctggcActcaaatttacagctggagc	11	12	2	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.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_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		Somatic				SELP_ENST00000367794.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron	p.C354R	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	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	4	104	---	---	---	---	G	169580817	A	G	169580817	3	3	280	1	0	0	0	0	1	0	0	0	14019	159	6	2	1472	2	SELP	1	169580817	Missense_Mutation	SNP	A	TCGA-VN-A88N-01A-11D-A364-08	10558969	169580817	79669804	3	10473										
LAMC1	3915	broad.mit.edu	37	chr1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	ccctgggtagaaacggccctGtgagactttgccgcctgtgc	13	13	0	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		Somatic					p.V822M	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	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	36	61	---	---	---	---	A	183093828	G	A	183093828	3	1	280	1	0	0	0	0	1	0	0	0	8614	1377	48	2	2518	2	LAMC1	1	183093828	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	13513011	183093828	66156793	4	10474										
CRB1	23418	broad.mit.edu	37	chr1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	cagcccttgccaaaatggggCcgtgtgccaggatggaattg	14	10	0	0	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_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	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		Somatic				CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V	p.A161V	NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	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	7	26	---	---	---	---	T	197297963	C	T	197297963	3	4	280	1	0	0	0	0	1	0	0	0	3848	739	26	2	488	2	CRB1	1	197297963	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	14204135	197297963	51952658	5	10475										
IQCA1	79781	broad.mit.edu	37	chr2	237285745	237285745	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	tattattctctgtgtactcaCcaatgtaatcagagaggttg	8	7	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.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_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			Somatic				IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site		NM_024726.4	NP_079002.3	WXS	Illumina GAIIx	Phase_I	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	22	28	---	---	---	---	A	237285745	C	A	237285745	5	1	280	1	0	0	0	0	0	0	1	0	7802	521	18	3	934	3	IQCA1	2	237285745	Splice_Site	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		237285745	5913628	6	10476										
RP1	6101	broad.mit.edu	37	chr8	55540777	55540777	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	atggaagaaccacggacttcTgaagaaccaggctcaataac	9	10	2	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.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			Somatic					p.S1445S	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	22	51	---	---	---	---	A	55540777	T	A	55540777	2	1	280	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		55540777	90823245	7	10477										
GPR158	57512	broad.mit.edu	37	chr10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	cagcacttatgaccacgtgaGagaccaaacggaagagtcca	10	11	0	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.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		Somatic				GPR158_ENST00000490549.1_3'UTR	p.R825K	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	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	16	61	---	---	---	---	A	25887029	G	A	25887029	3	1	280	1	0	0	0	0	1	0	0	0	6663	942	33	2	2516	2	GPR158	10	25887029	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08		25887029	109647718	8	10478										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	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_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	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)	Somatic				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	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	26	54	---	---	---	---	C	533874	T	C	533874	3	2	280	1	0	0	0	0	1	0	0	0	7348	1580	55	2	466	2	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		533874	134472642	9	10479										
SPRYD5	84767	broad.mit.edu	37	chr11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	gcagcctgaaagagccaataGtcatatcttcctgtgtggag	11	9	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.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		Somatic				TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	p.S298T	NM_032681.3	NP_116070.2	WXS	Illumina GAIIx	Phase_I	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	28	45	---	---	---	---	C	55658642	G	C	55658642	3	2	280	1	0	0	0	0	1	0	0	0	15110	1029	36	4	915	4	SPRYD5	11	55658642	Missense_Mutation	SNP	G	TCGA-VN-A88N-01A-11D-A364-08	55124768	55658642	79347874	10	10480										
CACNA1C	775	broad.mit.edu	37	chr12	2566835	2566835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	aaggcgctgagggccttccgCgtgctgcgccccctgcggct	15	16	0	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_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399655.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_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			Somatic				CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R	p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	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	20	217	---	---	---	---	T	2566835	C	T	2566835	2	4	280	1	0	0	0	0	0	0	0	1	2540	755	27	2		2	CACNA1C	12	2566835	Silent	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		2566835	131285060	11	10481										
DNAH9	1770	broad.mit.edu	37	chr17	11532900	11532900	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	ctgcctgtacctccaaagcaCggtagggttgggaagggctg	15	10	0	0	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					ENST00000262442.4																			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.(1516-1518)aCg>aTg		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			Somatic				DNAH9_ENST00000454412.2_Splice_Site_p.T506M	p.T506M	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Splice_Site	SNP	ENST00000262442.4	37	c.1517C>T	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	4	43	---	---	---	---	T	11532900	C	T	11532900	5	4	280	1	0	0	0	0	0	0	1	0	4608	550	19	2	1543	2	DNAH9	17	11532900	Splice_Site	SNP	C	TCGA-VN-A88N-01A-11D-A364-08		11532900	69662310	12	10482										
ALDOC	230	broad.mit.edu	37	chr17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	ctacagatgtccacttacctAcagactcatccgcagccaga	6	15	1	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_ENST00000395319.3_Missense_Mutation_p.V37A|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	8	41	---	---	---	---	G	26902441	A	G	26902441	3	3	280	1	0	0	0	0	1	0	0	0	509	391	14	2	1016	2	ALDOC	17	26902441	Missense_Mutation	SNP	A	TCGA-VN-A88N-01A-11D-A364-08	15369541	26902441	54292769	13	10483										
CCDC40	55036	broad.mit.edu	37	chr17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	agcagaaggagatcgagcacCacatgaaggacctggacaac	12	10	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.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		Somatic				CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	p.H832D	NM_017950.3	NP_060420.2	WXS	Illumina GAIIx	Phase_I	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	6	19	---	---	---	---	G	78061450	C	G	78061450	3	3	280	1	0	0	0	0	1	0	0	0	2812	594	21	4	2552	4	CCDC40	17	78061450	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	51159009	78061450	3133760	14	10484										
CCBE1	147372	broad.mit.edu	37	chr18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	acttgccctacttaccagtgTcattgggatatttgtctccc	7	12	2	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.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		Somatic				CCBE1_ENST00000398179.2_5'UTR	p.D183G	NM_133459.3	NP_597716.1	WXS	Illumina GAIIx	Phase_I	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	30	114	---	---	---	---	C	57133976	T	C	57133976	3	2	280	1	0	0	0	0	1	0	0	0	2731	1667	58	2	700	2	CCBE1	18	57133976	Missense_Mutation	SNP	T	TCGA-VN-A88N-01A-11D-A364-08		57133976	20943272	15	10485										
PVRL2	5819	broad.mit.edu	37	chr19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	atgacaactggtacctcggcCgtactgatgccaccctgagc	10	14	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.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		Somatic				PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	p.R276C	NM_001042724.1	NP_001036189.1	WXS	Illumina GAIIx	Phase_I	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	30	51	---	---	---	---	T	45377223	C	T	45377223	3	4	280	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	16	10486										
SON	6651	broad.mit.edu	37	chr21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	gctccatggactcccagatgTtagcaaccagcaccatggat	9	13	0	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_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000300278.4_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		Somatic				SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000290239.6_Missense_Mutation_p.L836V	p.L836V	NM_138927.1	NP_620305	WXS	Illumina GAIIx	Phase_I	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	89	169	---	---	---	---	G	34924043	T	G	34924043	3	3	280	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	17	10487										
BCOR	54880	broad.mit.edu	37	chrX	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-													0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	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)aagttacatccafs		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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	280	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	18	10488										
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984612	104984612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.13081395348837	0	1.5077519379845	1	1	0	actcagttgtggaagctgacCtggcgaattatacctgccat	10	10	1	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.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		Somatic				IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	p.L326M	NM_017416.1	NP_059112.1	WXS	Illumina GAIIx	Phase_I	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	48	19	---	---	---	---	A	104984612	C	A	104984612	3	1	280	1	0	0	0	0	1	0	0	0	7662	680	24	1	1002	1	IL1RAPL2	23	104984612	Missense_Mutation	SNP	C	TCGA-VN-A88N-01A-11D-A364-08	65052342	104984612	50285948	19	10489										
KIF1B	23095	broad.mit.edu	37	chr1	10364265	10364265	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	aagaagagagccaagaaaaaGggggtaaaggagcttttaag	14	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.chr1:10364265G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Missense_Mutation_p.G1008R|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|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)		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			Somatic				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron	p.G1008R	NM_183416.3	NP_904325.2	WXS	Illumina GAIIx	Phase_I	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	7	151	---	---	---	---	A	10364265	G	A	10364265	1	1	281	0	1	0	0	0	0	0	0	0	8284	1000	35	2		2	KIF1B	1	10364265	Intron	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		10364265	238886356	1	10490										
OMA1	115209	broad.mit.edu	37	chr1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	tactatatggttaacttgtaCttgatgacagccccgtgagg	10	8	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.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|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		Somatic				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	p.V41L	NM_145243.3	NP_660286.1	WXS	Illumina GAIIx	Phase_I	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	13	149	---	---	---	---	G	59004846	C	G	59004846	3	3	281	1	0	0	0	0	1	0	0	0	10864	565	20	4	1485	4	OMA1	1	59004846	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	48640581	59004846	190245775	2	10491										
ANAPC1	64682	broad.mit.edu	37	chr2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	agtacaatcctcattatagaGagaatcatgaagttttgaag	8	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.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		Somatic					p.L570F	NM_022662.3	NP_073153.1	WXS	Illumina GAIIx	Phase_I	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	8	168	---	---	---	---	A	112605385	G	A	112605385	3	1	281	1	0	0	0	0	1	0	0	0	598	942	33	2	4262	2	ANAPC1	2	112605385	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		112605385	130593988	3	10492										
PTPN4	5775	broad.mit.edu	37	chr2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	gacctcacgtttccgattgcCtgctggcagaacctacaatg	9	13	1	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.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		Somatic				PTPN4_ENST00000460162.1_3'UTR	p.P8R	NM_002830.3	NP_002821.1	WXS	Illumina GAIIx	Phase_I	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	36	54	---	---	---	---	G	120567452	C	G	120567452	3	3	281	1	0	0	0	0	1	0	0	0	12790	681	24	4	25	4	PTPN4	2	120567452	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	7962067	120567452	122631921	4	10493										
LY75	4065	broad.mit.edu	37	chr2	160665083	160665083	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	aacgatagttgcagagtgatCtgttgaaagaaaacacattc	9	6	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.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000554112.1_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			Somatic				LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site		NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				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	10	39	---	---	---	---	A	160665083	C	A	160665083	5	1	281	1	0	0	0	0	0	0	1	0	9099	927	32	3	481	3	LY75	2	160665083	Splice_Site	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	40097631	160665083	82534290	5	10494										
SLC38A11	151258	broad.mit.edu	37	chr2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	gtgttgtctgctgaacatgaGactctgaggtatttgtgaga	13	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.chr2:165755002G>C	ENST00000409149.3	-	11	1457	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	SLC38A11_ENST00000303735.4_Missense_Mutation_p.S367C|RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C	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		Somatic				SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	p.S367C	NM_173512.2	NP_775783.1	WXS	Illumina GAIIx	Phase_I	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	3	53	---	---	---	---	C	165755002	G	C	165755002	3	2	281	1	0	0	0	0	1	0	0	0	14603	942	33	4	58	4	SLC38A11	2	165755002	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	5089919	165755002	77444371	6	10495										
SLC39A10	57181	broad.mit.edu	37	chr2	196545261	196545261	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	acagttgaagtgtctgtaaaAtctgatgataaacatatgca	8	5	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.chr2:196545261A>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			Somatic				SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	p.K165K	NM_001127257.1	NP_001120729.1	WXS	Illumina GAIIx	Phase_I	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	14	89	---	---	---	---	G	196545261	A	G	196545261	2	3	281	1	0	0	0	0	0	0	0	1	14613	98	4	2		2	SLC39A10	2	196545261	Silent	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08	30790259	196545261	46654112	7	10496										
CLK1	1195	broad.mit.edu	37	chr2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	atcatcctctacactcctggTtcttttccttcggtgactct	5	14	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.chr2:201724917T>C	ENST00000321356.4	-	4	547	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	CLK1_ENST00000409769.2_5'Flank|CLK1_ENST00000492793.1_5'Flank|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000434813.2_Missense_Mutation_p.T180A	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		Somatic				CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	p.T180A	NM_001162407.1	NP_001155879.1	WXS	Illumina GAIIx	Phase_I	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	6	83	---	---	---	---	C	201724917	T	C	201724917	3	2	281	1	0	0	0	0	1	0	0	0	3536	1725	60	2	1082	2	CLK1	2	201724917	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08	5179656	201724917	41474456	8	10497										
SPEG	10290	broad.mit.edu	37	chr2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	cctaccccaccatcagctggTtccacaatggccaccgcatc	6	19	1	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.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		Somatic				SPEG_ENST00000485813.1_3'UTR	p.F1222L	NM_005876.4	NP_005867.3	WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	C	220334050	T	C	220334050	3	2	281	1	0	0	0	0	1	0	0	0	15035	1725	60	2	3726	2	SPEG	2	220334050	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08	18609133	220334050	22865323	9	10498										
TBC1D1	23216	broad.mit.edu	37	chr4	38097623	38097623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	actccctgtcttaaagaagtAactacagtgtgggaaaagat	9	7	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	116	---	---	---	---	G	38097623	A	G	38097623	2	3	281	1	0	0	0	0	0	0	0	1	15594	349	13	2		2	TBC1D1	4	38097623	Silent	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08		38097623	153056653	10	10499										
FILIP1	27145	broad.mit.edu	37	chr6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	atgtagtaattgtgactgggGacatggctcgttctgggcca	14	7	1	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.chr6:76022612G>A	ENST00000237172.7	-	5	3266	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.S979F	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		Somatic				FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F	p.S979F			WXS	Illumina GAIIx	Phase_I	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	8	171	---	---	---	---	A	76022612	G	A	76022612	3	1	281	1	0	0	0	0	1	0	0	0	5894	1174	41	2	713	2	FILIP1	6	76022612	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		76022612	95092455	11	10500										
FNDC1	84624	broad.mit.edu	37	chr6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	atgttcaacagagcacagacGcggacacggagggtcattct	12	10	3	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		Somatic				FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	p.A958T	NM_032532.2	NP_115921.2	WXS	Illumina GAIIx	Phase_I	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	4	27	---	---	---	---	A	159654416	G	A	159654416	3	1	281	1	0	0	0	0	1	0	0	0	5968	1087	38	2	2914	2	FNDC1	6	159654416	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	83631804	159654416	11460651	12	10501										
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	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_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_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		Somatic				POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	WXS	Illumina GAIIx	Phase_I	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	7	208	---	---	---	---	G	72398976	A	G	72398976	3	3	281	1	0	0	0	0	1	0	0	0	12239	101	4	2	291	2	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-VN-A88O-01A-11D-A34U-08		72398976	86739687	13	10502										
UBR5	51366	broad.mit.edu	37	chr8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	agaataaagaccctgacttgGacggccaaaaagatcctcct	8	11	0	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.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		Somatic				UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	p.P2070T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	WXS	Illumina GAIIx	Phase_I	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	5	146	---	---	---	---	T	103291134	G	T	103291134	3	4	281	1	0	0	0	0	1	0	0	0	16902	1174	41	3	2255	3	UBR5	8	103291134	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		103291134	43072888	14	10503										
MRPL13	28998	broad.mit.edu	37	chr8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	cctctactaaattcttaagaAtatcttctggaatatactac	3	9	4	1	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		Somatic					p.I137S	NM_014078.5	NP_054797.2	WXS	Illumina GAIIx	Phase_I	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	8	23	---	---	---	---	C	121426335	A	C	121426335	3	2	281	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	15	10504										
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	gacctcttactctgaattggTtggattctggagtgtagaat	11	6	3	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.chr9:107528754T>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		Somatic				NIPSNAP3B_ENST00000461177.1_Intron	p.V70A	NM_018376.2	NP_060846.2	WXS	Illumina GAIIx	Phase_I	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	10	111	---	---	---	---	C	107528754	T	C	107528754	3	2	281	1	0	0	0	0	1	0	0	0	10431	1725	60	2	215	2	NIPSNAP3B	9	107528754	Missense_Mutation	SNP	T	TCGA-VN-A88O-01A-11D-A34U-08		107528754	33684677	16	10505										
PAPPA	5069	broad.mit.edu	37	chr9	119106933	119106933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	ggtgcccagtgtactgtgagCtgccggacaggctacgtgct	15	11	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.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			Somatic				PAPPA_ENST00000534838.1_Silent_p.S279S	p.S1241S	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	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	4	83	---	---	---	---	T	119106933	C	T	119106933	2	4	281	1	0	0	0	0	0	0	0	1	11432	796	28	2		2	PAPPA	9	119106933	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	11578179	119106933	22106498	17	10506										
C10orf10	11067	broad.mit.edu	37	chr10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	gtgcggtgatgtctcgcaggGacacagcagggcggcccttc	16	12	1	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	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_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		Somatic				RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	p.S81Y	NM_007021.3	NP_008952.1	WXS	Illumina GAIIx	Phase_I	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	10	66	---	---	---	---	T	45473237	G	T	45473237	3	4	281	1	0	0	0	0	1	0	0	0	1580	1174	41	3	400	3	C10orf10	10	45473237	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		45473237	90061510	18	10507										
OR52E2	119678	broad.mit.edu	37	chr11	5080816	5080816	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	cctgggatccccagcaacagGaaggaggaggggtgaaactg	16	9	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.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			Somatic					p.F14F	NM_001005164.2	NP_001005164.2	WXS	Illumina GAIIx	Phase_I	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	4	44	---	---	---	---	A	5080816	G	A	5080816	2	1	281	1	0	0	0	0	0	0	0	1	11115	1165	41	2		2	OR52E2	11	5080816	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		5080816	129925700	19	10508										
APOA4	337	broad.mit.edu	37	chr11	116692051	116692051	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	ttcttcttcatctggaaggtCaggccctcaagctggtggtt	11	10	6	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.chr11:116692051C>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			Somatic					p.L241L	NM_000482.3	NP_000473.2	WXS	Illumina GAIIx	Phase_I				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	21	133	---	---	---	---	T	116692051	C	T	116692051	2	4	281	1	0	0	0	0	0	0	0	1	783	813	29	2		2	APOA4	11	116692051	Silent	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	111611235	116692051	18314465	20	10509										
ZNF830	91603	broad.mit.edu	37	chr17	33289179	33289179	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	cactcagtttcctcttcacgGgaggtaacaagtagtgtgct	10	10	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.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_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			Somatic					p.R198R	NM_052857.3	NP_443089.3	WXS	Illumina GAIIx	Phase_I	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	3	36	---	---	---	---	T	33289179	G	T	33289179	2	4	281	1	0	0	0	0	0	0	0	1	18181	1219	43	1		1	ZNF830	17	33289179	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		33289179	47906031	21	10510										
SPOP	8405	broad.mit.edu	37	chr17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	ccagtctttgccttgcacaaAcctatatgcccgttgactct	6	14	2	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.chr17:47696450A>T	ENST00000393328.2	-	6	738	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000393331.3_Missense_Mutation_p.F125I|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>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)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000393328.2_Missense_Mutation_p.F125I	p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	46	88	---	---	---	---	T	47696450	A	T	47696450	3	4	281	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	22	10511										
MUC16	94025	broad.mit.edu	37	chr19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	taaggtctcacctgagcaagGtcagtctgcagccagaatac	10	11	3	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		Somatic					p.T13222N	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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	4	122	---	---	---	---	T	9006353	G	T	9006353	3	4	281	1	0	0	0	0	1	0	0	0	9973	1261	44	3	4018	3	MUC16	19	9006353	Missense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		9006353	50122630	23	10512										
PGLYRP2	114770	broad.mit.edu	37	chr19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	tggagcaatggccacaacatCtggaaaggtatctccagtct	10	10	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.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		Somatic				PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y	p.D157Y			WXS	Illumina GAIIx	Phase_I	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	10	54	---	---	---	---	A	15587012	C	A	15587012	3	1	281	1	0	0	0	0	1	0	0	0	11794	913	32	3	1277	3	PGLYRP2	19	15587012	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	6580659	15587012	43541971	24	10513										
ARHGEF1	9138	broad.mit.edu	37	chr19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	ttctctctcttgagcaggttCtccgggtgccggtccctccc	10	16	3	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.chr19:42396405C>A	ENST00000354532.3	+	6	476	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I	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	9138				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		Somatic				ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I	p.L110I			WXS	Illumina GAIIx	Phase_I	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	5	134	---	---	---	---	A	42396405	C	A	42396405	3	1	281	1	0	0	0	0	1	0	0	0	893	913	32	3	395	3	ARHGEF1	19	42396405	Missense_Mutation	SNP	C	TCGA-VN-A88O-01A-11D-A34U-08	26809393	42396405	16732578	25	10514										
SNPH	9751	broad.mit.edu	37	chr20	1281299	1281299	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	cccctgcagcagaaggaggtGtgcatccggcacctgaaagc	13	13	0	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.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			Somatic				SNPH_ENST00000381873.3_Silent_p.V84V	p.V128V			WXS	Illumina GAIIx	Phase_I	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	7	36	---	---	---	---	T	1281299	G	T	1281299	2	4	281	1	0	0	0	0	0	0	0	1	14850	1364	48	3		3	SNPH	20	1281299	Silent	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08		1281299	61744221	26	10515										
PROKR2	128674	broad.mit.edu	37	chr20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	3	1	1.75161290322581	1.94623655913978	1.66820276497696	1	1	0	aggaccgtttctgttgcaaaGtaagccgatgggatggcaat	13	7	1	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.chr20:5283271G>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)	Somatic				PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*	p.Y190*			WXS	Illumina GAIIx	Phase_I	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	6	123	---	---	---	---	T	5283271	G	T	5283271	4	4	281	1	0	0	0	0	0	1	0	0	12553	1024	36	3	587	3	PROKR2	20	5283271	Nonsense_Mutation	SNP	G	TCGA-VN-A88O-01A-11D-A34U-08	4001972	5283271	57742249	27	10516										
VAV3	10451	broad.mit.edu	37	chr1	108417551	108417551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	agtcacgaacatcaaacaagTcaaatgcctcgaaaagttca	6	10	4	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.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		Somatic				VAV3_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V	p.D98V	NM_006113.4	NP_006104.4	WXS	Illumina GAIIx	Phase_I	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	20	30	---	---	---	---	A	108417551	T	A	108417551	3	1	282	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	10517										
PLEKHH2	130271	broad.mit.edu	37	chr2	43926933	43926933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tggtggcatctcccagaattCtggggctcctgtgagtgact	13	10	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.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		Somatic					p.S279F	NM_172069.3	NP_742066.2	WXS	Illumina GAIIx	Phase_I	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	15	56	---	---	---	---	T	43926933	C	T	43926933	3	4	282	1	0	0	0	0	1	0	0	0	12077	913	32	2	862	2	PLEKHH2	2	43926933	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		43926933	199272440	2	10518										
CNTNAP5	129684	broad.mit.edu	37	chr2	125192103	125192103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tggccgaagctcacttctgtAcaggttcaatcagaagttga	10	9	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.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		Somatic					p.Y191C	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	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	13	63	---	---	---	---	G	125192103	A	G	125192103	3	3	282	1	0	0	0	0	1	0	0	0	3650	391	14	2	590	2	CNTNAP5	2	125192103	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08	81265170	125192103	118007270	3	10519										
RAPGEF4	11069	broad.mit.edu	37	chr2	173832003	173832003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ccatagtggaccaggagcacCatttccaagacaaatattta	7	10	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.chr2:173832003C>T	ENST00000397081.3	+	10	978	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR|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	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		Somatic				RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y	p.H278Y			WXS	Illumina GAIIx	Phase_I	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	7	13	---	---	---	---	T	173832003	C	T	173832003	3	4	282	1	0	0	0	0	1	0	0	0	13046	594	21	2	889	2	RAPGEF4	2	173832003	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	48639900	173832003	69367370	4	10520										
TMF1	7110	broad.mit.edu	37	chr3	69087802	69087802	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tcttctttagctttcatttcAcggctcagagcagcttcctg	7	12	5	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.chr3:69087802A>C	ENST00000398559.2	-	8	2280	c.2064T>G	c.(2062-2064)cgT>cgG	p.R688R	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000543976.1_Silent_p.R691R|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_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			Somatic				CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	p.R691R	NM_007114.2	NP_009045.2	WXS	Illumina GAIIx	Phase_I	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	52	64	---	---	---	---	C	69087802	A	C	69087802	2	2	282	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		69087802	128934628	5	10521										
PDZRN3	23024	broad.mit.edu	37	chr3	73657756	73657756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	gtaattaacataccacactcGgccggccaccaataatattg	6	12	0	0	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		Somatic				PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L	p.P268L	NM_015009.1	NP_055824.1	WXS	Illumina GAIIx	Phase_I	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	6	12	---	---	---	---	A	73657756	G	A	73657756	3	1	282	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	6	10522										
ZBTB20	26137	broad.mit.edu	37	chr3	114069639	114069639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ttctctccggagaggaagcaCctgtttctagctggtttgtc	11	10	2	1	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-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_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		Somatic				ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V	p.G356V	NM_001164343.1	NP_001157815.1	WXS	Illumina GAIIx	Phase_I	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	31	60	---	---	---	---	A	114069639	C	A	114069639	3	1	282	1	0	0	0	0	1	0	0	0	17526	507	18	3	947	3	ZBTB20	3	114069639	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	40411883	114069639	83952791	7	10523										
ZNF518B	85460	broad.mit.edu	37	chr4	10447287	10447287	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tccagcttggcaacagctttGactggccgtttcgcacctgc	10	14	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.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			Somatic					p.V222V	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	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	9	261	---	---	---	---	C	10447287	G	C	10447287	2	2	282	1	0	0	0	0	0	0	0	1	17960	1277	45	4		4	ZNF518B	4	10447287	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		10447287	180706989	8	10524										
PPP2R2B	5521	broad.mit.edu	37	chr5	146080619	146080619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	accacttacctcctgctctcGttgaaatattacaacccgac	4	15	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.chr5:146080619G>A	ENST00000394413.3	-	2	727	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*			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*		Somatic				PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000530902.1_5'UTR	p.R53*			WXS	Illumina GAIIx	Phase_I	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	97	313	---	---	---	---	A	146080619	G	A	146080619	4	1	282	1	0	0	0	0	0	1	0	0	12385	1153	40	2	1206	2	PPP2R2B	5	146080619	Nonsense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		146080619	34834641	9	10525										
FAM71B	153745	broad.mit.edu	37	chr5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	cattgctgcccctgctattgCcacatctgttctaggtcctg	8	14	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.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		Somatic					p.A283T	NM_130899.2	NP_570969.2	WXS	Illumina GAIIx	Phase_I	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	24	97	---	---	---	---	T	156590429	C	T	156590429	3	4	282	1	0	0	0	0	1	0	0	0	5608	739	26	2	974	2	FAM71B	5	156590429	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	10509810	156590429	24324831	10	10526										
PTK7	5754	broad.mit.edu	37	chr6	43112201	43112201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	cttcccaggtgggcctttgcAgaacgggcagccctcagcag	13	14	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.chr6:43112201A>G	ENST00000230419.4	+	15	2485	c.2264A>G	c.(2263-2265)cAg>cGg	p.Q755R	PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R	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	5754				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		Somatic				PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R	p.Q755R	NM_002821.4	NP_002812.2	WXS	Illumina GAIIx	Phase_I	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	11	62	---	---	---	---	G	43112201	A	G	43112201	3	3	282	1	0	0	0	0	1	0	0	0	12765	188	7	2	2322	2	PTK7	6	43112201	Missense_Mutation	SNP	A	TCGA-VN-A88P-01A-11D-A34U-08		43112201	128002866	11	10527										
NT5E	4907	broad.mit.edu	37	chr6	86195049	86195049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tgtagtccaggcctatgcttTtggcaaatacctaggctatc	9	10	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.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		Somatic				NT5E_ENST00000369651.3_Missense_Mutation_p.F283C	p.F283C	NM_002526.3	NP_002517.1	WXS	Illumina GAIIx	Phase_I	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	43	45	---	---	---	---	G	86195049	T	G	86195049	3	3	282	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	12	10528										
SDK1	221935	broad.mit.edu	37	chr7	4119141	4119141	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	gtcatttccaacatcagcccTcgctccgccacccttcagtt	5	18	3	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.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			Somatic				SDK1_ENST00000389531.3_Silent_p.P1083P	p.P1083P	NM_152744.3	NP_689957.3	WXS	Illumina GAIIx	Phase_I	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	27	123	---	---	---	---	G	4119141	T	G	4119141	2	3	282	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	13	10529										
SEMA3A	10371	broad.mit.edu	37	chr7	83590830	83590830	+	Frame_Shift_Del	DEL	C	C	-													0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	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																																						ENST00000265362.4																			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)gttfs		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		Somatic				SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs	p.V725fs	NM_006080.2	NP_006071.1	WXS	Illumina GAIIx	Phase_I	Q14563	SEM3A_HUMAN			17	2487	-									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	282	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	14	10530										
PI15	51050	broad.mit.edu	37	chr8	75761482	75761485	+	Frame_Shift_Del	DEL	TAAA	TAAA	-													0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	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|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|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)tttaaafs		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		Somatic				PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	p.FK257fs	NM_015886.3	NP_056970.1	WXS	Illumina GAIIx	Phase_I	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	282	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		75761482	70602540	15	10531										
RANBP6	26953	broad.mit.edu	37	chr9	6013360	6013361	+	Nonsense_Mutation	DNP	GA	GA	AT													0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	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.chr9:6013360_6013361GA>AT	ENST00000259569.5	-	1	2257_2258	c.2247_2248TC>AT	c.(2245-2250)taTCtt>taATtt	p.749_750YL>*F	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)		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)		ATCTGTGCAAGATACTCTGGGC	0.411																																						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|c.(2245-2247)taT>taA		RAN binding protein 6																																				SO:0001587	stop_gained	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013360G>A|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.2247_2248delinsAT	9.37:g.6013360_6013361delinsAT	ENSP00000259569:p.Y749_L750delins*F		Somatic					p.L750F|p.Y749*	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	WXS	Illumina GAIIx	Phase_I	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2258|2257	-		Acute lymphoblastic leukemia(23;0.158)	750|749					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000259569.5	37	c.2248C>T|c.2247T>A	CCDS6467.1																																																																																				0.411	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	86|87	11	86	---	---	---	---	AT	6013361	GA	AT	6013360	4	1	282	1	0	0	0	0	0	1	0	0	13031	942	33	2	1073	2	RANBP6	9	6013360	Nonsense_Mutation	DNP	GA	TCGA-VN-A88P-01A-11D-A34U-08		6013360	135200071	16	10532										
IPPK	64768	broad.mit.edu	37	chr9	95378253	95378253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tatactgatggggaatgctcTcgtagggcttgaggtcaagg	15	6	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.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		Somatic				CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR	p.E446G	NM_022755.5	NP_073592.1	WXS	Illumina GAIIx	Phase_I	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	6	39	---	---	---	---	C	95378253	T	C	95378253	3	2	282	1	0	0	0	0	1	0	0	0	7801	1551	54	2	142	2	IPPK	9	95378253	Missense_Mutation	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08	89364893	95378253	45835178	17	10533										
DBC1	1620	broad.mit.edu	37	chr9	121930373	121930373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ccgcctatcacgcaggggatGgggcgctggcacagcgtggt	17	12	1	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.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											c.(1273-1275)ccC>ccT		bone morphogenetic protein/retinoic acid inducible neural-specific 1							23	23	23					9																	121930373		2203	4300	6503	SO:0001819	synonymous_variant	1620							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			Somatic				BRINP1_ENST00000482797.1_Intron	p.P425P	NM_014618.2	NP_055433.2	WXS	Illumina GAIIx	Phase_I					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	7	13	---	---	---	---	A	121930373	G	A	121930373	2	1	282	1	0	0	0	0	0	0	0	1	4247	1335	47	2		2	DBC1	9	121930373	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	26552120	121930373	19283058	18	10534										
ANGPTL2	23452	broad.mit.edu	37	chr9	129870588	129870588	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ttgcggatgatctcgtgcagGagctgcatgtagagctgcgt	15	8	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_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|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			Somatic				RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron	p.L141L	NM_012098.2	NP_036230.1	WXS	Illumina GAIIx	Phase_I	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	28	28	---	---	---	---	T	129870588	G	T	129870588	2	4	282	1	0	0	0	0	0	0	0	1	614	1161	41	3		3	ANGPTL2	9	129870588	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	7940215	129870588	11342843	19	10535										
KIAA1462	57608	broad.mit.edu	37	chr10	30306821	30306821	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ccggcatttcatcacaccctCtccactctgctagggtcata	6	16	5	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.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		Somatic					p.E1357D	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	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	11	32	---	---	---	---	G	30306821	C	G	30306821	3	3	282	1	0	0	0	0	1	0	0	0	8234	912	32	4	12	4	KIAA1462	10	30306821	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		30306821	105227926	20	10536										
SORBS1	10580	broad.mit.edu	37	chr10	97074853	97074853	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ttacatagttgcctggaaaaGtaccaaactgctttgtcctt	7	9	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.chr10:97074853G>C	ENST00000361941.3	-	31	3868	c.3842C>G	c.(3841-3843)aCt>aGt	p.T1281S	SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000371247.2_Missense_Mutation_p.T1281S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S	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		Somatic				SORBS1_ENST00000361941.3_Missense_Mutation_p.T1281S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S	p.T1281S			WXS	Illumina GAIIx	Phase_I	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	19	36	---	---	---	---	C	97074853	G	C	97074853	3	2	282	1	0	0	0	0	1	0	0	0	14927	1029	36	4	40	4	SORBS1	10	97074853	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	66768032	97074853	38459894	21	10537										
RNF214	257160	broad.mit.edu	37	chr11	117152031	117152031	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	cctgttggtttcttgaaaggTcaactcccccaacactggag	9	12	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.chr11:117152031T>C	ENST00000531452.1	+	9	1193	c.1147T>C	c.(1147-1149)Tca>Cca	p.S383P	RNF214_ENST00000531287.1_Splice_Site_p.S228P|RNF214_ENST00000300650.4_Splice_Site_p.S383P|RNF214_ENST00000530849.1_Splice_Site_p.S228P	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.(682-684)Tca>Cca		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			Somatic				RNF214_ENST00000300650.4_Splice_Site_p.S383P|RNF214_ENST00000531452.1_Splice_Site_p.S383P|RNF214_ENST00000531287.1_Splice_Site_p.S228P	p.S228P			WXS	Illumina GAIIx	Phase_I	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.682T>C	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	7	33	---	---	---	---	C	117152031	T	C	117152031	5	2	282	1	0	0	0	0	0	0	1	0	13478	1681	58	2	1177	2	RNF214	11	117152031	Splice_Site	SNP	T	TCGA-VN-A88P-01A-11D-A34U-08		117152031	17854485	22	10538										
ITPR2	3709	broad.mit.edu	37	chr12	26640135	26640135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ttcgatcatagagaactttaAagaatttttctgactttttt	5	5	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.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		Somatic					p.F1807Y	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	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	7	69	---	---	---	---	T	26640135	A	T	26640135	3	4	282	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	23	10539										
MLL2	8085	broad.mit.edu	37	chr12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-													0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	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)ccafs		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		Somatic					p.P1460fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					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	282	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	24	10540										
AVPR1A	552	broad.mit.edu	37	chr12	63543962	63543962	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	aaagatgccgcccgtcatccAggtcacgtaggcacgagaac	11	13	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.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	552				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		Somatic					p.W219R	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	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	4	142	---	---	---	---	T	63543962	A	T	63543962	3	4	282	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	14103531	63543962	70307933	25	10541										
DNAH10	196385	broad.mit.edu	37	chr12	124297927	124297927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	atcgacctctctggaaattgGacaaagctattgtgatggag	11	7	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.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		Somatic					p.D1003N	NM_207437.3	NP_997320.2	WXS	Illumina GAIIx	Phase_I	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	19	122	---	---	---	---	A	124297927	G	A	124297927	3	1	282	1	0	0	0	0	1	0	0	0	4598	1174	41	2	3081	2	DNAH10	12	124297927	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	60753965	124297927	9553968	26	10542										
PIWIL1	9271	broad.mit.edu	37	chr12	130840152	130840152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ggtttgagctttgattccaaCttactgtccttctcaggaag	9	9	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.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		Somatic					p.N448K	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina GAIIx	Phase_I	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	57	114	---	---	---	---	A	130840152	C	A	130840152	3	1	282	1	0	0	0	0	1	0	0	0	11957	564	20	3	1386	3	PIWIL1	12	130840152	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08	6542225	130840152	3011743	27	10543										
KIAA1409	57578	broad.mit.edu	37	chr14	93994973	93994973	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	cgttgtatctctgtgaagaaTgcagcgagaggattgcaggg	15	6	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.chr14:93994973T>A	ENST00000393151.2	+	9	1033	c.1033T>A	c.(1033-1035)Tgc>Agc	p.C345S	UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000553484.1_Missense_Mutation_p.C345S|UNC79_ENST00000555664.1_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		Somatic				UNC79_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_Missense_Mutation_p.C345S	p.C345S			WXS	Illumina GAIIx	Phase_I	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	44	58	---	---	---	---	A	93994973	T	A	93994973	3	1	282	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	28	10544										
UNC13C	440279	broad.mit.edu	37	chr15	54847665	54847665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	gaggatgccaggggtctgacGccaagacaatgcgctataat	13	9	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.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			Somatic				UNC13C_ENST00000260323.11_Silent_p.T1971T|UNC13C_ENST00000537900.1_Silent_p.T1969T	p.T1971T			WXS	Illumina GAIIx	Phase_I	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	7	2	---	---	---	---	A	54847665	G	A	54847665	2	1	282	1	0	0	0	0	0	0	0	1	16983	1074	38	2		2	UNC13C	15	54847665	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		54847665	47683727	29	10545										
SLC26A11	284129	broad.mit.edu	37	chr17	78222020	78222020	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	ggggccctggtgtctctgctCatgctcctgcactctgcagc	12	15	3	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_ENST00000546047.2_Silent_p.L462L|SLC26A11_ENST00000572725.1_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			Somatic				SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000546047.2_Silent_p.L462L	p.L462L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	WXS	Illumina GAIIx	Phase_I	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	8	11	---	---	---	---	T	78222020	C	T	78222020	2	4	282	1	0	0	0	0	0	0	0	1	14516	813	29	2		2	SLC26A11	17	78222020	Silent	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		78222020	2973190	30	10546										
RNMT	8731	broad.mit.edu	37	chr18	13759951	13759951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	tcttctttaggtatttacttGgtgtttgcctttgagaaaca	8	6	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.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		Somatic				RNMT_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron	p.L468F			WXS	Illumina GAIIx	Phase_I	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	17	17	---	---	---	---	C	13759951	G	C	13759951	3	2	282	1	0	0	0	0	1	0	0	0	13506	1339	47	4	1442	4	RNMT	18	13759951	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		13759951	64317297	31	10547										
SERPINB8	5271	broad.mit.edu	37	chr18	61652428	61652428	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	gagctgccctatgtggaagaGgagctgagcatggtcattct	14	8	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_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000397988.3_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		Somatic				SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D	p.E223D	NM_001276490.1	NP_001263419.1	WXS	Illumina GAIIx	Phase_I	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	11	27	---	---	---	---	C	61652428	G	C	61652428	3	2	282	1	0	0	0	0	1	0	0	0	14107	991	35	4	687	4	SERPINB8	18	61652428	Missense_Mutation	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08	47892477	61652428	16424820	32	10548										
ZBTB7A	51341	broad.mit.edu	37	chr19	4054211	4054211	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	cccttgtcgtcggcccgcgaCtcctcgtcgctgtcccccgc	10	21	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.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		Somatic				ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D	p.E340D	NM_015898.2	NP_056982.1	WXS	Illumina GAIIx	Phase_I	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	9	20	---	---	---	---	A	4054211	C	A	4054211	3	1	282	1	0	0	0	0	1	0	0	0	17550	564	20	3	742	3	ZBTB7A	19	4054211	Missense_Mutation	SNP	C	TCGA-VN-A88P-01A-11D-A34U-08		4054211	55074772	33	10549										
CD37	951	broad.mit.edu	37	chr19	49842112	49842114	+	In_Frame_Del	DEL	CAG	CAG	-													0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	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_ENST00000426897.2_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_In_Frame_Del_p.S202del|CD37_ENST00000598095.1_In_Frame_Del_p.S134del	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)ctcagc>ctc		CD37 molecule																																				SO:0001651	inframe_deletion	951					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		Somatic				CD37_ENST00000323906.4_In_Frame_Del_p.S202del|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_In_Frame_Del_p.S134del	p.S202del			WXS	Illumina GAIIx	Phase_I	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)	202					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	282	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	34	10550										
CT47B1	643311	broad.mit.edu	37	chrX	120009180	120009180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.114285714285714	4	0.968713181754189	2.07154471544715	3.10731707317073	1.55365853658537	1	1	0	aagccaatgcccgccgccggGtaccgacgggtggccaccgc	14	17	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.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			Somatic					p.Y115Y	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	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	10	6	---	---	---	---	A	120009180	G	A	120009180	2	1	282	1	0	0	0	0	0	0	0	1	3989	1256	44	2		2	CT47B1	23	120009180	Silent	SNP	G	TCGA-VN-A88P-01A-11D-A34U-08		120009180	35261380	35	10551										
TROVE2	6738	broad.mit.edu	37	chr1	193045706	193045706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gaaagatgactgctaattcaGtacttgaaccaggaaattca	8	7	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.chr1:193045706G>A	ENST00000367446.3	+	4	1087	c.877G>A	c.(877-879)Gta>Ata	p.V293I	TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000432079.1_Missense_Mutation_p.V18I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I	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		Somatic				TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I	p.V18I			WXS	Illumina GAIIx	Phase_I	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	61	176	---	---	---	---	A	193045706	G	A	193045706	3	1	283	1	0	0	0	0	1	0	0	0	16573	1029	36	2	887	2	TROVE2	1	193045706	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		193045706	56204915	1	10552										
SLC41A1	254428	broad.mit.edu	37	chr1	205767940	205767940	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	tgatgactccaatcatgatcAtacctggtgagcaagtggga	11	8	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.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		Somatic				SLC41A1_ENST00000468057.1_5'UTR	p.M234T	NM_173854.4	NP_776253.3	WXS	Illumina GAIIx	Phase_I	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	48	48	---	---	---	---	G	205767940	A	G	205767940	3	3	283	1	0	0	0	0	1	0	0	0	14629	217	8	2	864	2	SLC41A1	1	205767940	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08	12722234	205767940	43482681	2	10553										
PARP1	142	broad.mit.edu	37	chr1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ccgaggctgtggagggcggaGgcgtggccgccacggaggcg	22	11	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		Somatic					p.P369L	NM_001618.3	NP_001609.2	WXS	Illumina GAIIx	Phase_I	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	67	193	---	---	---	---	A	226570790	G	A	226570790	3	1	283	1	0	0	0	0	1	0	0	0	11454	1000	35	2	2002	2	PARP1	1	226570790	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	20802850	226570790	22679831	3	10554										
IL1RL1	9173	broad.mit.edu	37	chr2	102968056	102968056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gcggcacattttcatcctgaCccctcagatcactcacaata	5	15	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.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		Somatic					p.T449I	NM_016232.4	NP_057316.3	WXS	Illumina GAIIx	Phase_I	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	22	46	---	---	---	---	T	102968056	C	T	102968056	3	4	283	1	0	0	0	0	1	0	0	0	7663	507	18	2	1401	2	IL1RL1	2	102968056	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		102968056	140231317	4	10555										
LRP1B	53353	broad.mit.edu	37	chr2	141108609	141108609	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	agaacttgatcttcagagccTggagattattataataaaat	7	5	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.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)	Somatic						NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	21	77	---	---	---	---	A	141108609	T	A	141108609	5	1	283	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	38140553	141108609	102090764	5	10556										
USP37	57695	broad.mit.edu	37	chr2	219418330	219418330	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	aaacaacctcatttcctctgCatccttacttggtactttgt	4	12	2	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.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_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P	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		Somatic				USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P|USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P	p.A92P	NM_020935.2	NP_065986	WXS	Illumina GAIIx	Phase_I	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	3	67	---	---	---	---	G	219418330	C	G	219418330	3	3	283	1	0	0	0	0	1	0	0	0	17065	710	25	4	2753	4	USP37	2	219418330	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	78309721	219418330	23781043	6	10557										
ALS2CL	259173	broad.mit.edu	37	chr3	46721979	46721979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	acctgcctgggtgaccatgaCccctgggccgtggcgctgac	14	15	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.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		Somatic				ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	p.V497I	NM_147129.3	NP_667340.2	WXS	Illumina GAIIx	Phase_I	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	10	47	---	---	---	---	T	46721979	C	T	46721979	3	4	283	1	0	0	0	0	1	0	0	0	551	507	18	2	1424	2	ALS2CL	3	46721979	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		46721979	151300451	7	10558										
GABRA4	2557	broad.mit.edu	37	chr4	46976285	46976285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ggtttcacttgatacggtttGcccaatcaaatcatattgaa	7	8	3	2	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		Somatic					p.Q229K	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	WXS	Illumina GAIIx	Phase_I	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	12	122	---	---	---	---	T	46976285	G	T	46976285	3	4	283	1	0	0	0	0	1	0	0	0	6163	1328	46	3	995	3	GABRA4	4	46976285	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		46976285	144177991	8	10559										
SH3RF1	57630	broad.mit.edu	37	chr4	170043369	170043369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gcctggtggtgtggaggcaaGgacagtggcagccaggagag	20	7	0	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.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		Somatic				SH3RF1_ENST00000508685.1_5'UTR	p.L410F	NM_020870.3	NP_065921.2	WXS	Illumina GAIIx	Phase_I	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	6	8	---	---	---	---	A	170043369	G	A	170043369	3	1	283	1	0	0	0	0	1	0	0	0	14258	1000	35	2	1462	2	SH3RF1	4	170043369	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	123067084	170043369	21110907	9	10560										
MSH3	4437	broad.mit.edu	37	chr5	80088578	80088578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	tgtacaagaagaaagaaaaaTtgtaataaaaaatggaaggc	9	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.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		Somatic					p.I857S	NM_002439.4	NP_002430.3	WXS	Illumina GAIIx	Phase_I	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	3	69	---	---	---	---	G	80088578	T	G	80088578	3	3	283	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	10	10561										
ARRDC3	57561	broad.mit.edu	37	chr5	90670917	90670917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ctttggcatagaaggcctgtGtttggtaaatggctgccttt	12	7	0	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.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		Somatic					p.T231I	NM_020801.2	NP_065852.1	WXS	Illumina GAIIx	Phase_I	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	39	58	---	---	---	---	A	90670917	G	A	90670917	3	1	283	1	0	0	0	0	1	0	0	0	984	1377	48	2	568	2	ARRDC3	5	90670917	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	10582339	90670917	90244343	11	10562										
ZMIZ2	83637	broad.mit.edu	37	chr7	44807185	44807185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	acccgacctccctacgaacaAcaatgacgacctgctttctc	5	17	1	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.chr7:44807185A>G	ENST00000309315.4	+	19	2849	c.2726A>G	c.(2725-2727)aAc>aGc	p.N909S	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S|ZMIZ2_ENST00000463931.1_3'UTR	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		Somatic				ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S	p.N909S	NM_031449.3	NP_113637.3	WXS	Illumina GAIIx	Phase_I	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	16	36	---	---	---	---	G	44807185	A	G	44807185	3	3	283	1	0	0	0	0	1	0	0	0	17694	43	2	2	2796	2	ZMIZ2	7	44807185	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		44807185	114331478	12	10563										
SLC7A2	6542	broad.mit.edu	37	chr8	17396401	17396401	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	agggtttattggaacacctgCcccaccggtttgcgacagca	11	12	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.chr8:17396401C>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000470360.1_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			Somatic				SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron	p.A23V			WXS	Illumina GAIIx	Phase_I	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	35	101	---	---	---	---	T	17396401	C	T	17396401	1	4	283	0	1	0	0	0	0	0	0	0	14697	739	26	2		2	SLC7A2	8	17396401	Intron	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		17396401	128967621	13	10564										
DAPK1	1612	broad.mit.edu	37	chr9	90262289	90262289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ccttgaaatttctcagtgagAacaaatgccctttggatgtg	9	8	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.chr9:90262289A>G	ENST00000408954.3	+	14	1635	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D|DAPK1_ENST00000469640.2_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000491893.1_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		Somatic				DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D	p.N434D			WXS	Illumina GAIIx	Phase_I	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	20	50	---	---	---	---	G	90262289	A	G	90262289	3	3	283	1	0	0	0	0	1	0	0	0	4235	246	9	2	1350	2	DAPK1	9	90262289	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		90262289	50951142	14	10565										
ZNF365	22891	broad.mit.edu	37	chr10	64136573	64136573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	tttgtgcagctgactcagaaAaagcaggaagttcagagacg	12	7	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.chr10:64136573A>G	ENST00000395254.3	+	2	901	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF365_ENST00000395255.3_Silent_p.K207K|ZNF365_ENST00000410046.3_Silent_p.K207K|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)					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			Somatic				ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.K207K	p.K207K	NM_014951.2	NP_055766.2	WXS	Illumina GAIIx	Phase_I	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	32	91	---	---	---	---	G	64136573	A	G	64136573	2	3	283	1	0	0	0	0	0	0	0	1	17866	11	1	2		2	ZNF365	10	64136573	Silent	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		64136573	71398174	15	10566										
MUC5B	727897	broad.mit.edu	37	chr11	1248357	1248357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gtgctgacattcctgtggaaCggagaggacagtgccctggt	15	9	0	2	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			Somatic				MUC5B_ENST00000529681.1_Silent_p.N186N	p.N186N			WXS	Illumina GAIIx	Phase_I	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	8	25	---	---	---	---	T	1248357	C	T	1248357	2	4	283	1	0	0	0	0	0	0	0	1	9979	535	19	2		2	MUC5B	11	1248357	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		1248357	133758159	16	10567										
NUP160	23279	broad.mit.edu	37	chr11	47861461	47861461	+	Frame_Shift_Del	DEL	G	G	-													0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	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_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron	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)ctgfs		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		Somatic				NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR	p.L228fs	NM_015231.1	NP_056046.1	WXS	Illumina GAIIx	Phase_I	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	283	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	46613104	47861461	87145055	17	10568										
KCNK4	50801	broad.mit.edu	37	chr11	64064397	64064397	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gcggacccagaaaccaactcGaccagcaacagcagccactc	8	17	0	1	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_ENST00000539651.1_3'UTR|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.R13Q|KCNK4_ENST00000394525.2_Silent_p.S79S			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			Somatic				KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.S79S	p.R13Q			WXS	Illumina GAIIx	Phase_I	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	12	35	---	---	---	---	A	64064397	G	A	64064397	2	1	283	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	18	10569										
SFRS2B	10929	broad.mit.edu	37	chr11	94800909	94800909	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	cggtcgcgctacagcgctctCcctacagcagatctcgctac	9	17	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.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			Somatic						NM_032102.3	NP_115285.1	WXS	Illumina GAIIx	Phase_I	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	7	54	---	---	---	---	A	94800909	C	A	94800909	1	1	283	0	1	0	0	0	0	0	0	0	14176	842	30	3		3	SFRS2B	11	94800909	RNA	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08	30736512	94800909	40205607	19	10570										
TMEM132D	121256	broad.mit.edu	37	chr12	129559089	129559089	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	tcgctggggatggtctgcaaGtggctgttgtcatctaaaag	14	7	3	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.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		Somatic				TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	p.H877Q	NM_133448.2	NP_597705.2	WXS	Illumina GAIIx	Phase_I	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	18	69	---	---	---	---	C	129559089	G	C	129559089	3	2	283	1	0	0	0	0	1	0	0	0	16044	1020	36	4	672	4	TMEM132D	12	129559089	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08		129559089	4292806	20	10571										
TPTE2	93492	broad.mit.edu	37	chr13	20039450	20039450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	cttgtgtatcgccttttgttTtctgaaacctgagagtttaa	8	7	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.chr13:20039450T>G	ENST00000400230.2	-	9	665	c.621A>C	c.(619-621)gaA>gaC	p.E207D	TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D			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		Somatic				TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D	p.E207D			WXS	Illumina GAIIx	Phase_I	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	45	108	---	---	---	---	G	20039450	T	G	20039450	3	3	283	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	21	10572										
TOX4	9878	broad.mit.edu	37	chr14	21945674	21945674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gtttcccggaggaaatgacaAttacctgacgatcacagggc	11	10	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.chr14:21945674A>G	ENST00000405508.1	+	3	302	c.26A>G	c.(25-27)aAt>aGt	p.N9S	TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|RAB2B_ENST00000397762.1_5'Flank|TOX4_ENST00000448790.2_Intron|TOX4_ENST00000494242.1_3'UTR|RAB2B_ENST00000461909.1_5'Flank			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		Somatic	OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752	TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Intron	p.N9S			WXS	Illumina GAIIx	Phase_I	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	29	82	---	---	---	---	G	21945674	A	G	21945674	3	3	283	1	0	0	0	0	1	0	0	0	16377	101	4	2	32	2	TOX4	14	21945674	Missense_Mutation	SNP	A	TCGA-VN-A88Q-01A-11D-A34U-08		21945674	85403866	22	10573										
NEUROD2	4761	broad.mit.edu	37	chr17	37762553	37762553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ttgggcccgcgcttcttgggCcgctcgccctccgcctcgtc	12	19	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.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			Somatic					p.R100R	NM_006160.3	NP_006151.3	WXS	Illumina GAIIx	Phase_I	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	6	5	---	---	---	---	A	37762553	C	A	37762553	2	1	283	1	0	0	0	0	0	0	0	1	10349	726	26	3		3	NEUROD2	17	37762553	Silent	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		37762553	43432657	23	10574										
KLHL10	317719	broad.mit.edu	37	chr17	40001966	40001966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	ccatgcacgaacagaggagtGatgcaagcgccacaacactt	10	12	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.chr17:40001966G>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		Somatic					p.D425N	NM_152467.3	NP_689680.2	WXS	Illumina GAIIx	Phase_I	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	34	39	---	---	---	---	A	40001966	G	A	40001966	3	1	283	1	0	0	0	0	1	0	0	0	8366	1290	45	2	1283	2	KLHL10	17	40001966	Missense_Mutation	SNP	G	TCGA-VN-A88Q-01A-11D-A34U-08	2239413	40001966	41193244	24	10575										
EFTUD2	9343	broad.mit.edu	37	chr17	42953449	42953449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gcaccgcatgcttgatcagcCgctctgtgttcagcatcacc	9	15	4	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.chr17:42953449C>T	ENST00000426333.2	-	10	1019	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q	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		Somatic				EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q	p.R241Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	WXS	Illumina GAIIx	Phase_I	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	4	136	---	---	---	---	T	42953449	C	T	42953449	3	4	283	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	25	10576										
WDR7	23335	broad.mit.edu	37	chr18	54547218	54547218	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	atgaaaaaaatttctacatcTtacgaggaaagacggaagca	8	6	2	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.chr18:54547218T>C	ENST00000254442.3	+	21	3559	c.3348T>C	c.(3346-3348)tcT>tcC	p.S1116S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1083S	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			Somatic				WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1083S	p.S1116S	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	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	19	38	---	---	---	---	C	54547218	T	C	54547218	2	2	283	1	0	0	0	0	0	0	0	1	17317	1596	56	2		2	WDR7	18	54547218	Silent	SNP	T	TCGA-VN-A88Q-01A-11D-A34U-08		54547218	23530030	26	10577										
CYTH4	27128	broad.mit.edu	37	chr22	37707052	37707052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.493670886075949	0	0.575949367088608	1	1	0	gccgcgtgaagacgtggaaaCggcgctggttcatcctgacc	14	12	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.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		Somatic					p.R278W	NM_013385.3	NP_037517.1	WXS	Illumina GAIIx	Phase_I	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	24	94	---	---	---	---	T	37707052	C	T	37707052	3	4	283	1	0	0	0	0	1	0	0	0	4206	527	19	2	870	2	CYTH4	22	37707052	Missense_Mutation	SNP	C	TCGA-VN-A88Q-01A-11D-A34U-08		37707052	13597514	27	10578										
GPR37L1	9283	broad.mit.edu	37	chr1	202092723	202092723	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccgtgcccttcatggaggTgagtgtgtgttctgtttgag	15	7	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.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																																						ENST00000367282.5																			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			Somatic						NM_004767.3	NP_004758.3	WXS	Illumina GAIIx	Phase_I	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	17	28	---	---	---	---	C	202092723	T	C	202092723	5	2	284	1	0	0	0	0	0	0	1	0	6692	1710	59	2	634	2	GPR37L1	1	202092723	Splice_Site	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		202092723	47157898	1	10579										
CEP170	9859	broad.mit.edu	37	chr1	243362462	243362462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccaccatgacggctgcccAtataatggagtaccacgggg	11	14	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.chr1:243362462A>G	ENST00000366542.1	-	7	582	c.531T>C	c.(529-531)taT>taC	p.Y177Y	CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_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			Somatic				CEP170_ENST00000366544.1_Silent_p.Y177Y|CEP170_ENST00000366543.1_Silent_p.Y177Y	p.Y177Y	NM_014812.2	NP_055627.2	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	G	243362462	A	G	243362462	2	3	284	1	0	0	0	0	0	0	0	1	3250	224	8	2		2	CEP170	1	243362462	Silent	SNP	A	TCGA-VN-A88R-01A-11D-A364-08	41269739	243362462	5888159	2	10580										
GPAT2	150763	broad.mit.edu	37	chr2	96689180	96689180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtcacaggctggccgggaGcctggggtctaggggccgtg	20	10	2	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.chr2:96689180G>A	ENST00000434632.1	-	19	2364	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	GPAT2_ENST00000377137.3_Intron|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000359548.4_Silent_p.G635G			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			Somatic				GPAT2_ENST00000359548.4_Silent_p.G635G|GPAT2_ENST00000453542.1_Silent_p.G564G|GPAT2_ENST00000377137.3_Intron	p.G635G			WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---	A	96689180	G	A	96689180	2	1	284	1	0	0	0	0	0	0	0	1	6589	958	34	2		2	GPAT2	2	96689180	Silent	SNP	G	TCGA-VN-A88R-01A-11D-A364-08		96689180	146510193	3	10581										
IL1F8	27177	broad.mit.edu	37	chr2	113783764	113783764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatgtgtgaattccaactaGtttccagcaagtgtccttcc	8	11	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.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		Somatic					p.L103I	NM_014438.3	NP_055253.2	WXS	Illumina GAIIx	Phase_I	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	18	29	---	---	---	---	T	113783764	G	T	113783764	3	4	284	1	0	0	0	0	1	0	0	0	7656	1020	36	3	195	3	IL1F8	2	113783764	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	17094584	113783764	129415609	4	10582										
ZNF713	349075	broad.mit.edu	37	chr7	56007346	56007346	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaagccttccgtcagcatTcatcctttactcaacatctg	6	13	4	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.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		Somatic				MRPS17_ENST00000426595.1_Intron	p.S314A	NM_182633.1	NP_872439.1	WXS	Illumina GAIIx	Phase_I	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	40	62	---	---	---	---	G	56007346	T	G	56007346	3	3	284	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	5	10583										
RP1	6101	broad.mit.edu	37	chr8	55537905	55537905	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagttttcatatagtgaagAaagggaaagtggggaaaaca	12	3	1	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.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		Somatic					p.E488A	NM_006269.1	NP_006260.1	WXS	Illumina GAIIx	Phase_I	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	16	28	---	---	---	---	C	55537905	A	C	55537905	3	2	284	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	6	10584										
CDH23	64072	broad.mit.edu	37	chr10	73558936	73558937	+	Missense_Mutation	DNP	TC	TC	CA													0	0	1	0	0	0	1	1	0	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.chr10:73558936_73558937TC>CA	ENST00000224721.6	+	50	7143_7144	c.7138_7139TC>CA	c.(7138-7140)TCa>CAa	p.S2380Q	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135Q	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						CGTGAGGGCCTCAGACAACGGG	0.574																																						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|c.(7138-7140)tCa>tAa		cadherin-related 23																																				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|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	Exception_encountered	10.37:g.73558936_73558937delinsCA	ENSP00000224721:p.Ser2380Gln		Somatic				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S135P|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Nonsense_Mutation_p.S135*	p.S2380P|p.S2380*	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			50	7143|7144	+			2375		P -> L (in dbSNP:rs4747195).	Cadherin 22.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000224721.6	37	c.7138T>C|c.7139C>A																																																																																					0.574	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		15	18	15	18	---	---	---	---	CA	73558937	TC	CA	73558936	3	2	284	1	0	0	0	0	1	0	0	0	3108	1551	54	2	7666	2	CDH23	10	73558936	Missense_Mutation	DNP	TC	TCGA-VN-A88R-01A-11D-A364-08		73558936	61975811	7	10585										
BMPR1A	657	broad.mit.edu	37	chr10	88676986	88676986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaaatggcgtggcgaaaaAgtggcggtgaaagtattctt	15	5	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.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)	ENST00000372037.3			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		Somatic					p.K257N	NM_004329.2	NP_004320.2	WXS	Illumina GAIIx	Phase_I	P36894	BMR1A_HUMAN			9	1308	+						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	8	20	---	---	---	---	T	88676986	A	T	88676986	3	4	284	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	15118050	88676986	46857761	8	10586										
COL17A1	1308	broad.mit.edu	37	chr10	105832989	105832989	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtgtttgactccgtcctcTggttgaagaagatgctgaga	12	8	1	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.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*		Somatic				COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R132*|COL17A1_ENST00000393211.3_Nonsense_Mutation_p.R132*	p.R132*	NM_000494.3	NP_000485.3	WXS	Illumina GAIIx	Phase_I	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	7	159	---	---	---	---	A	105832989	T	A	105832989	4	1	284	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	9	10587										
BEST1	7439	broad.mit.edu	37	chr11	61730330	61730330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacatacacactacactcaaAgatcacatggatccttattg	4	11	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.chr11:61730330A>C	ENST00000378043.4	+	10	2347	c.1704A>C	c.(1702-1704)aaA>aaC	p.K568N	BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.K508N|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.K481N	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		Somatic				BEST1_ENST00000378042.3_Missense_Mutation_p.K481N|BEST1_ENST00000378043.4_Missense_Mutation_p.K568N|BEST1_ENST00000301774.9_Missense_Mutation_p.K196N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron	p.K508N	NM_001139443.1	NP_001132915.1	WXS	Illumina GAIIx	Phase_I	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	10	22	---	---	---	---	C	61730330	A	C	61730330	3	2	284	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	10	10588										
PACS1	55690	broad.mit.edu	37	chr11	65838130	65838130	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	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)tcgfs		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		Somatic					p.S59fs	NM_018026.3	NP_060496.2	WXS	Illumina GAIIx	Phase_I	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	284	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	4107800	65838130	69168386	11	10589										
ADAMTS8	11095	broad.mit.edu	37	chr11	130278687	130278687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcgaacactttgaactcGctcctcccccgggctcggca	9	18	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.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		Somatic					p.S633R	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	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	30	72	---	---	---	---	T	130278687	G	T	130278687	3	4	284	1	0	0	0	0	1	0	0	0	272	1078	38	3	782	3	ADAMTS8	11	130278687	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08	64440557	130278687	4727829	12	10590										
NOS1	4842	broad.mit.edu	37	chr12	117696254	117696254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catttccatcaaagcacagcCgaatttctggaagccaaaac	6	12	2	0	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	17	---	---	---	---	T	117696254	C	T	117696254	3	4	284	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	13	10591										
USP12	219333	broad.mit.edu	37	chr13	27745742	27745742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cacctaccatggtacagatgGaggcgaatttggagactgtc	12	9	0	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.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		Somatic					p.S12F	NM_182488.3	NP_872294.2	WXS	Illumina GAIIx	Phase_I	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	8	7	---	---	---	---	A	27745742	G	A	27745742	3	1	284	1	0	0	0	0	1	0	0	0	17040	1174	41	2	1113	2	USP12	13	27745742	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08		27745742	87424136	14	10592										
DAAM1	23002	broad.mit.edu	37	chr14	59797408	59797408	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctccatgagctcagcagggTgaggtcttccgctcagctca	12	13	4	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.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			Somatic				DAAM1_ENST00000360909.3_Splice_Site|DAAM1_ENST00000351081.1_Splice_Site		NM_014992.2	NP_055807.1	WXS	Illumina GAIIx	Phase_I	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	9	10	---	---	---	---	C	59797408	T	C	59797408	5	2	284	1	0	0	0	0	0	0	1	0	4215	1710	59	2	1608	2	DAAM1	14	59797408	Splice_Site	SNP	T	TCGA-VN-A88R-01A-11D-A364-08		59797408	47552132	15	10593										
C14orf149	112849	broad.mit.edu	37	chr14	59942682	59942682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctttgtgatactgtaaggCaattcgggctgtcactcctg	10	11	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.chr14:59942682C>T	ENST00000247194.4	-	4	957	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T|L3HYPDH_ENST00000543619.1_5'Flank	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		Somatic				L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A111T	p.A282T	NM_144581.1	NP_653182.1	WXS	Illumina GAIIx	Phase_I					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	19	25	---	---	---	---	T	59942682	C	T	59942682	3	4	284	1	0	0	0	0	1	0	0	0	1752	710	25	2	228	2	C14orf149	14	59942682	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08	145274	59942682	47406858	16	10594										
PDPR	55066	broad.mit.edu	37	chr16	70187414	70187414	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttgccttctggggtcagGatataaataacctcaccacg	8	10	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.chr16:70187414G>C	ENST00000288050.4	+	18	3130	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.D725H	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		Somatic				PDPR_ENST00000568530.1_Missense_Mutation_p.D725H|PDPR_ENST00000567046.1_Missense_Mutation_p.D83H|PDPR_ENST00000542659.1_Missense_Mutation_p.D70H|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000398122.3_Missense_Mutation_p.D625H	p.D725H	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	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	5	8	---	---	---	---	C	70187414	G	C	70187414	3	2	284	1	0	0	0	0	1	0	0	0	11689	1174	41	4	2235	4	PDPR	16	70187414	Missense_Mutation	SNP	G	TCGA-VN-A88R-01A-11D-A364-08		70187414	20167339	17	10595										
ZFHX3	463	broad.mit.edu	37	chr16	72828649	72828650	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	0	0	1	1	0	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)ttgfs		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		Somatic				ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L1730fs	p.L2644fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	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	284	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	18	10596										
SPOP	8405	broad.mit.edu	37	chr17	47696450	47696450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtctttgccttgcacaaAcctatatgcccgttgactct	6	14	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.chr17:47696450A>G	ENST00000393328.2	-	6	738	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L	SPOP_ENST00000393331.3_Missense_Mutation_p.F125L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L	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)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.F125L|SPOP_ENST00000347630.2_Missense_Mutation_p.F125L|SPOP_ENST00000503676.1_Missense_Mutation_p.F125L|SPOP_ENST00000393328.2_Missense_Mutation_p.F125L	p.F125L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	36	46	---	---	---	---	G	47696450	A	G	47696450	3	3	284	1	0	0	0	0	1	0	0	0	15083	43	2	2	775	2	SPOP	17	47696450	Missense_Mutation	SNP	A	TCGA-VN-A88R-01A-11D-A364-08		47696450	33498760	19	10597										
HIPK4	147746	broad.mit.edu	37	chr19	40890039	40890039	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatgctggcggatccgaagTcaatcacctgtcgggggtgg	15	9	2	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		Somatic					p.D158A	NM_144685.3	NP_653286.2	WXS	Illumina GAIIx	Phase_I	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	15	26	---	---	---	---	G	40890039	T	G	40890039	3	3	284	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	20	10598										
PSG3	5671	broad.mit.edu	37	chr19	43237164	43237164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	taagctcacagcctccatgtCctccctggggtataagttgc	9	13	1	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.chr19:43237164C>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		Somatic				PSG3_ENST00000595140.1_Missense_Mutation_p.D161N	p.D161N	NM_021016.3	NP_066296.2	WXS	Illumina GAIIx	Phase_I	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	4	126	---	---	---	---	T	43237164	C	T	43237164	3	4	284	1	0	0	0	0	1	0	0	0	12656	855	30	2	821	2	PSG3	19	43237164	Missense_Mutation	SNP	C	TCGA-VN-A88R-01A-11D-A364-08	2347125	43237164	15891819	21	10599										
ELF4	2000	broad.mit.edu	37	chrX	129208569	129208569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacagacctgtcagcaaaaaActgccttccaggatctgatc	7	12	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.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		Somatic				ELF4_ENST00000335997.7_Missense_Mutation_p.S78R	p.S78R	NM_001421.3	NP_001412.1	WXS	Illumina GAIIx	Phase_I	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	23	5	---	---	---	---	C	129208569	A	C	129208569	3	2	284	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	22	10600										
POLR1B	84172	broad.mit.edu	37	chr2	113300244	113300244	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgagggtctcggcctcgcggTgcaggtgagcgcggcgtccg	19	13	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.chr2:113300244T>A	ENST00000263331.5	+	1	753	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E	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		Somatic				POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E	p.V58E	NM_019014.4	NP_061887.2	WXS	Illumina GAIIx	Phase_I	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	4	7	---	---	---	---	A	113300244	T	A	113300244	3	1	285	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		113300244	129899129	1	10601										
FARP2	9855	broad.mit.edu	37	chr2	242373718	242373718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agccgtcttcttcagccgggGctcctccttcagatacaggt	10	14	4	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.chr2:242373718G>A	ENST00000264042.3	+	10	1183	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	FARP2_ENST00000373287.4_Missense_Mutation_p.G338D|FARP2_ENST00000545004.1_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		Somatic				FARP2_ENST00000373287.4_Missense_Mutation_p.G338D|FARP2_ENST00000545004.1_Missense_Mutation_p.G338D	p.G338D	NM_014808.2	NP_055623.1	WXS	Illumina GAIIx	Phase_I	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	4	41	---	---	---	---	A	242373718	G	A	242373718	3	1	285	1	0	0	0	0	1	0	0	0	5677	1203	42	2	1047	2	FARP2	2	242373718	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	129073474	242373718	825655	2	10602										
DCHS2	54798	broad.mit.edu	37	chr4	155157233	155157233	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaggaggcagttgcatcaccTttgtctttggcttggactgt	12	8	2	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.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																																						ENST00000357232.4																			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		Somatic					p.K2402N	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7205	-	all_hematologic(180;0.208)	Renal(120;0.0854)				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	6	95	---	---	---	---	A	155157233	T	A	155157233	3	1	285	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	3	10603										
TCERG1	10915	broad.mit.edu	37	chr5	145849150	145849151	+	Frame_Shift_Ins	INS	-	-	CC													0	0	1	0	NA	0	1	1	0	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.(1243-1245)cccfs		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		Somatic				TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs	p.P415fs	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	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)	415					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	285	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		145849150	35066110	4	10604										
TNXB	7148	broad.mit.edu	37	chr6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcgggtggcacaggtagggcCggtgtagcctgggtcgcaca	19	10	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.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		Somatic				TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S	p.G644S			WXS	Illumina GAIIx	Phase_I	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	8	11	---	---	---	---	T	32063700	C	T	32063700	3	4	285	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	5	10605										
MOGAT2	80168	broad.mit.edu	37	chr11	75438518	75438518	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctggacccctctcggaactaCattgcgggcttccaccccca	8	18	1	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.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*		Somatic				MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103*	p.Y21*			WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	A	75438518	C	A	75438518	4	1	285	1	0	0	0	0	0	1	0	0	9695	489	17	3	319	3	MOGAT2	11	75438518	Nonsense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		75438518	59567998	6	10606										
HSPA8	3312	broad.mit.edu	37	chr11	122930969	122930969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcactgtgaccacagcattgGtaacagtctaggaataagga	11	8	1	1	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	HSPA8_ENST00000534319.1_5'UTR|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|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000534624.1_Missense_Mutation_p.T140N|SNORD14E_ENST00000364009.1_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		Somatic				HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N	p.T140N	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	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	8	77	---	---	---	---	T	122930969	G	T	122930969	3	4	285	1	0	0	0	0	1	0	0	0	7416	1261	44	3	1545	3	HSPA8	11	122930969	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08	47492451	122930969	12075547	7	10607										
PRPF40B	25766	broad.mit.edu	37	chr12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aatgcttccaccaatgggggCgccaccaccactcacacagg	9	16	1	0	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		Somatic				PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V	p.A42V			WXS	Illumina GAIIx	Phase_I	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	14	50	---	---	---	---	T	50025308	C	T	50025308	3	4	285	1	0	0	0	0	1	0	0	0	12572	768	27	2	149	2	PRPF40B	12	50025308	Missense_Mutation	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		50025308	83826587	8	10608										
IVD	3712	broad.mit.edu	37	chr15	40707600	40707600	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcctttctcctttctgacagGctcatgcaagcggtcctgga	10	13	3	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.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.(877-879)ggG>ggA		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			Somatic				IVD_ENST00000479013.2_Splice_Site_p.G266G|IVD_ENST00000487418.2_Splice_Site_p.G296G	p.G293G	NM_002225.3	NP_002216.2	WXS	Illumina GAIIx	Phase_I	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.879G>A		.	.	.	.	.	.	.	.	.	.	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	3	28	---	---	---	---	A	40707600	G	A	40707600	5	1	285	1	0	0	0	0	0	0	1	0	7928	1217	42	2	922	2	IVD	15	40707600	Splice_Site	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		40707600	61823792	9	10609										
MYH4	4622	broad.mit.edu	37	chr17	10369613	10369613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gatcatccaggctgcgtaacGctctttgaggttatacagca	10	10	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.chr17:10369613G>A	ENST00000255381.2	-	4	435	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	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	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		Somatic				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.R109C	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	A	10369613	G	A	10369613	3	1	285	1	0	0	0	0	1	0	0	0	10037	1087	38	2	5642	2	MYH4	17	10369613	Missense_Mutation	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		10369613	70825597	10	10610										
ABCA7	10347	broad.mit.edu	37	chr19	1043361	1043361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctcggagctgattggagcCctggacagccacccgctgtc	13	14	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			Somatic				ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	p.A273A	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	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	12	37	---	---	---	---	T	1043361	C	T	1043361	2	4	285	1	0	0	0	0	0	0	0	1	37	610	22	2		2	ABCA7	19	1043361	Silent	SNP	C	TCGA-VP-A872-01A-11D-A34U-08		1043361	58085622	11	10611										
C20orf177	63939	broad.mit.edu	37	chr20	58519366	58519366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcttcgagctgaagaaattgAtccagtttactttgatcttc	7	8	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.chr20:58519366A>G	ENST00000358293.3	+	5	783	c.368A>G	c.(367-369)gAt>gGt	p.D123G	FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	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		Somatic				FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	p.D123G	NM_001190826.1	NP_001177755.1	WXS	Illumina GAIIx	Phase_I	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	27	46	---	---	---	---	G	58519366	A	G	58519366	3	3	285	1	0	0	0	0	1	0	0	0	2096	333	12	2	370	2	C20orf177	20	58519366	Missense_Mutation	SNP	A	TCGA-VP-A872-01A-11D-A34U-08		58519366	4506154	12	10612										
TCF20	6942	broad.mit.edu	37	chr22	42605693	42605694	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	NA	0	1	1	0	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_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs|TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs	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)tatfs		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		Somatic				TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs	p.Y1873fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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	285	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	13	10613										
ARSE	415	broad.mit.edu	37	chrX	2856153	2856153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tacctgtcctggggcacctcGccgcccgccagccggaccac	11	20	0	0	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_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000545496.1_Silent_p.G449G	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			Somatic				ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G	p.G449G	NM_001282628.1	NP_001269557.1	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	A	2856153	G	A	2856153	2	1	285	1	0	0	0	0	0	0	0	1	990	1074	38	2		2	ARSE	23	2856153	Silent	SNP	G	TCGA-VP-A872-01A-11D-A34U-08		2856153	152414407	14	10614										
OR6N1	128372	broad.mit.edu	37	chr1	158735834	158735834	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tgcacataggagcagaggatCagcaggaaggtggctaggat	16	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.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			Somatic					p.L213L	NM_001005185.1	NP_001005185.1	WXS	Illumina GAIIx	Phase_I	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	7	108	---	---	---	---	A	158735834	C	A	158735834	2	1	286	1	0	0	0	0	0	0	0	1	11206	813	29	3		3	OR6N1	1	158735834	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		158735834	90514787	1	10615										
CACNA1S	779	broad.mit.edu	37	chr1	201044699	201044699	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gacggcccgccgtaggccatGatcccattgtacatcattga	10	13	1	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.chr1:201044699G>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		Somatic				CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M	p.I624M	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	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	18	61	---	---	---	---	C	201044699	G	C	201044699	3	2	286	1	0	0	0	0	1	0	0	0	2547	1280	45	4	3877	4	CACNA1S	1	201044699	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	42308865	201044699	48205922	2	10616			1	25		3	3	1524	G		9.473074e-07
CACNA1S	779	broad.mit.edu	37	chr1	201046060	201046060	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gagcctacctggaagacgctGatgagggcttggggaaagtt	16	7	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.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			Somatic				CACNA1S_ENST00000367338.3_Silent_p.I605I	p.I605I	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	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	26	34	---	---	---	---	A	201046060	G	A	201046060	2	1	286	1	0	0	0	0	0	0	0	1	2547	1280	45	2		2	CACNA1S	1	201046060	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	1361	201046060	48204561	3	10617			1	25		3	3	1524	G		9.473074e-07
CACNA1S	779	broad.mit.edu	37	chr1	201046222	201046222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gagcggatggagttgagcagGgatgccaccaggttgctcag	17	8	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.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			Somatic				CACNA1S_ENST00000367338.3_Silent_p.S551S	p.S551S	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	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	13	33	---	---	---	---	A	201046222	G	A	201046222	2	1	286	1	0	0	0	0	0	0	0	1	2547	1219	43	2		2	CACNA1S	1	201046222	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	162	201046222	48204399	4	10618			1	25		3	3	1524	G		9.473074e-07
ABHD1	84696	broad.mit.edu	37	chr2	27351917	27351917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tacccagcccattgtgctgcTgcttcctggcatcactggca	9	15	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.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		Somatic					p.L127R	NM_032604.3	NP_115993	WXS	Illumina GAIIx	Phase_I	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	11	28	---	---	---	---	G	27351917	T	G	27351917	3	3	286	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	10619										
KIAA1486	57624	broad.mit.edu	37	chr2	226447087	226447087	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	ccatgcccccccaaggggctGctttgcgacatccctccgcc	9	20	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.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			Somatic				NYAP2_ENST00000409269.2_Intron	p.L318L	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	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	9	32	---	---	---	---	T	226447087	G	T	226447087	2	4	286	1	0	0	0	0	0	0	0	1	8237	1306	46	3		3	KIAA1486	2	226447087	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	199095170	226447087	16752286	6	10620										
NT5DC2	64943	broad.mit.edu	37	chr3	52559262	52559262	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	ggtggtccccgaagtagagcAcgcgggggccacgccattcc	15	14	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.chr3:52559262A>T	ENST00000307076.4	-	11	1458	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E	NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|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		Somatic				NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E	p.V353E	NM_022908.2	NP_075059.1	WXS	Illumina GAIIx	Phase_I	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	4	28	---	---	---	---	T	52559262	A	T	52559262	3	4	286	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	7	10621										
IMPG2	50939	broad.mit.edu	37	chr3	101023020	101023020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	aagcttctatgttccacagaTtcactaaaatttgtgcccat	5	10	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.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			Somatic					p.E157E	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	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	15	76	---	---	---	---	C	101023020	T	C	101023020	2	2	286	1	0	0	0	0	0	0	0	1	7729	1490	52	2		2	IMPG2	3	101023020	Silent	SNP	T	TCGA-VP-A875-01A-31D-A34U-08	48463758	101023020	96999410	8	10622										
FNDC3B	64778	broad.mit.edu	37	chr3	172096070	172096070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	cttcttctaggtttatttcaAtctacagaggacccagccac	6	12	4	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.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		Somatic				FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V	p.I1007V	NM_001135095.1	NP_001128567.1	WXS	Illumina GAIIx	Phase_I	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	19	23	---	---	---	---	G	172096070	A	G	172096070	3	3	286	1	0	0	0	0	1	0	0	0	5970	101	4	2	3109	2	FNDC3B	3	172096070	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	71073050	172096070	25926360	9	10623										
PEX5L	51555	broad.mit.edu	37	chr3	179605498	179605498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	actggccttgctattgcttcCgatttggtttcacagagaaa	9	9	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.chr3:179605498C>T	ENST00000467460.1	-	4	603	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S	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			Somatic				PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000468741.1_5'UTR|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	p.S91S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	WXS	Illumina GAIIx	Phase_I	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	22	80	---	---	---	---	T	179605498	C	T	179605498	2	4	286	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	10	10624										
F11	2160	broad.mit.edu	37	chr4	187201491	187201491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gtgcaccaatgccgtccgctGccagttttttacctataccc	7	15	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.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		Somatic				F11_ENST00000403665.2_Missense_Mutation_p.C327Y	p.C275Y			WXS	Illumina GAIIx	Phase_I	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	12	101	---	---	---	---	A	187201491	G	A	187201491	3	1	286	1	0	0	0	0	1	0	0	0	5337	1319	46	2	1010	2	F11	4	187201491	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		187201491	3952785	11	10625										
SLC25A46	91137	broad.mit.edu	37	chr5	110097084	110097084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	cagttattcagaagtttgtcCtactaattctaaagagaaag	7	6	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.chr5:110097084C>T	ENST00000355943.3	+	8	985	c.859C>T	c.(859-861)Cta>Tta	p.L287L	SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L	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			Somatic				SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L	p.L287L	NM_138773.1	NP_620128.1	WXS	Illumina GAIIx	Phase_I	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	14	78	---	---	---	---	T	110097084	C	T	110097084	2	4	286	1	0	0	0	0	0	0	0	1	14511	680	24	2		2	SLC25A46	5	110097084	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		110097084	70818176	12	10626										
PCDHB2	56133	broad.mit.edu	37	chr5	140475876	140475876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gccccaggacccgcacctgcCcctcgcctccctggtctcca	8	23	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.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	56133				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		Somatic					p.P501L	NM_018936.2	NP_061759.1	WXS	Illumina GAIIx	Phase_I	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	8	122	---	---	---	---	T	140475876	C	T	140475876	3	4	286	1	0	0	0	0	1	0	0	0	11542	623	22	2	1504	2	PCDHB2	5	140475876	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	30378792	140475876	40439384	13	10627										
ACTB	60	broad.mit.edu	37	chr7	5568828	5568828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	cggttggccttggggttcagGggggcctcggtcagcagcac	18	11	2	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.chr7:5568828G>A	ENST00000331789.5	-	3	518	c.327C>T	c.(325-327)ccC>ccT	p.P109P	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	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			Somatic					p.P109P	NM_001101.3	NP_001092.1	WXS	Illumina GAIIx	Phase_I	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	10	38	---	---	---	---	A	5568828	G	A	5568828	2	1	286	1	0	0	0	0	0	0	0	1	193	1219	43	2		2	ACTB	7	5568828	Silent	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		5568828	153569835	14	10628										
THSD7A	221981	broad.mit.edu	37	chr7	11676141	11676141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gacgcgtccggtgctggagcCcgctgccgcaggtcttggag	17	13	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.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)																												ENST00000423059.4																			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)	Somatic					p.G213E	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	889	-						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	23	19	---	---	---	---	T	11676141	C	T	11676141	3	4	286	1	0	0	0	0	1	0	0	0	15876	623	22	2	4439	2	THSD7A	7	11676141	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08	6107313	11676141	147462522	15	10629										
KRIT1	889	broad.mit.edu	37	chr7	91830634	91830634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tacttacctgttttgtatgtActataaagctcattttattt	4	6	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.chr7:91830634A>C	ENST00000340022.2	-	18	3147	c.2129T>G	c.(2128-2130)gTa>gGa	p.V710G	KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|MIR1285-1_ENST00000408593.1_RNA|KRIT1_ENST00000394507.1_Missense_Mutation_p.V710G	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		Somatic				KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G	p.V710G	NM_194456.1	NP_919438.1	WXS	Illumina GAIIx	Phase_I	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	5	134	---	---	---	---	C	91830634	A	C	91830634	3	2	286	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	16	10630										
MLL3	58508	broad.mit.edu	37	chr7	151884803	151884803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gaaaataaggcttgtacctgGcatcaggataagaggattgt	12	5	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.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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V	p.A1597V			WXS	Illumina GAIIx	Phase_I					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	4	73	---	---	---	---	A	151884803	G	A	151884803	3	1	286	1	0	0	0	0	1	0	0	0	9622	1203	42	2	10057	2	MLL3	7	151884803	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08	60054169	151884803	7253860	17	10631										
VPS13B	157680	broad.mit.edu	37	chr8	100789020	100789020	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tagctctgcaagtgagtctgGttctcaaagcacttgtgatc	10	9	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.chr8:100789020G>C	ENST00000358544.2	+	41	7451	c.7340G>C	c.(7339-7341)gGt>gCt	p.G2447A	VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR	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		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR	p.G2447A	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	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	39	45	---	---	---	---	C	100789020	G	C	100789020	3	2	286	1	0	0	0	0	1	0	0	0	17187	1261	44	4	7692	4	VPS13B	8	100789020	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		100789020	45575002	18	10632										
CPN1	1369	broad.mit.edu	37	chr10	101802208	101802208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gcagggcctctctgcagctgCctcatctccatttctttctt	7	15	5	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.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			Somatic					p.R451R	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	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	9	55	---	---	---	---	T	101802208	C	T	101802208	2	4	286	1	0	0	0	0	0	0	0	1	3809	738	26	2		2	CPN1	10	101802208	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		101802208	33732539	19	10633										
GPR84	53831	broad.mit.edu	37	chr12	54756711	54756711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	cccaaattccgatgaagaatCcggagctcttctggctcctt	8	13	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.chr12:54756711C>A	ENST00000551809.1	-	1	1560	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			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	53831					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		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.3_ENST00000550474.1_RNA	p.D309Y			WXS	Illumina GAIIx	Phase_I	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	19	94	---	---	---	---	A	54756711	C	A	54756711	3	1	286	1	0	0	0	0	1	0	0	0	6714	855	30	3	269	3	GPR84	12	54756711	Missense_Mutation	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		54756711	79095184	20	10634										
COG3	83548	broad.mit.edu	37	chr13	46050413	46050413	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tcagtagtgcctgaatctacAgaagacattctcttgaaggg	10	8	3	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			Somatic					p.T84T	NM_031431.3	NP_113619	WXS	Illumina GAIIx	Phase_I	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	3	32	---	---	---	---	G	46050413	A	G	46050413	2	3	286	1	0	0	0	0	0	0	0	1	3659	175	7	2		2	COG3	13	46050413	Silent	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		46050413	69119465	21	10635										
BTBD1	53339	broad.mit.edu	37	chr15	83710528	83710528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	tgggaaccggattaaggaaaGtgcttttcctagaacttttt	10	6	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.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		Somatic				BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	p.L272F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	WXS	Illumina GAIIx	Phase_I	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	23	93	---	---	---	---	A	83710528	G	A	83710528	3	1	286	1	0	0	0	0	1	0	0	0	1537	1029	36	2	654	2	BTBD1	15	83710528	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		83710528	18820864	22	10636										
C16orf59	80178	broad.mit.edu	37	chr16	2512433	2512433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	cagtcaggcgggccccagccCaggctcagtgctgtggaggt	16	13	2	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	RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000569496.1_Silent_p.P256P|C16orf59_ENST00000563531.1_Silent_p.P256P|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000483320.1_Silent_p.P89P	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			Somatic				C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000361837.4_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P	p.P256P			WXS	Illumina GAIIx	Phase_I	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	3	22	---	---	---	---	T	2512433	C	T	2512433	2	4	286	1	0	0	0	0	0	0	0	1	1823	581	21	2		2	C16orf59	16	2512433	Silent	SNP	C	TCGA-VP-A875-01A-31D-A34U-08		2512433	87842320	23	10637										
SF3B3	23450	broad.mit.edu	37	chr16	70569246	70569246	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	atggtccaagtggagtactgAtctgctctgaaaactatatt	9	7	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.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		Somatic					p.I250F	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	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	6	190	---	---	---	---	T	70569246	A	T	70569246	3	4	286	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	68056813	70569246	19785507	24	10638										
PER1	5187	broad.mit.edu	37	chr17	8045265	8045265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gatcctgcttcagcacagagGtcatgtccctgcccaagaag	10	13	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.chr17:8045265G>A	ENST00000317276.4	-	22	3695	c.3458C>T	c.(3457-3459)aCc>aTc	p.T1153I	PER1_ENST00000581082.1_Missense_Mutation_p.T1130I|PER1_ENST00000578089.1_5'Flank	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		Somatic				PER1_ENST00000581082.1_Missense_Mutation_p.T1130I	p.T1153I	NM_002616.2	NP_002607.2	WXS	Illumina GAIIx	Phase_I	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	5	40	---	---	---	---	A	8045265	G	A	8045265	3	1	286	1	0	0	0	0	1	0	0	0	11729	1261	44	2	422	2	PER1	17	8045265	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		8045265	73149945	25	10639										
AKAP1	8165	broad.mit.edu	37	chr17	55197639	55197639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gataaaccggtccctggtggAgcgaggccttgcccagtggg	16	11	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.chr17:55197639A>G	ENST00000337714.3	+	11	2899	c.2666A>G	c.(2665-2667)gAg>gGg	p.E889G	AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G|AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_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		Somatic				AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G	p.E889G	NM_003488.3	NP_003479.1	WXS	Illumina GAIIx	Phase_I	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	19	16	---	---	---	---	G	55197639	A	G	55197639	3	3	286	1	0	0	0	0	1	0	0	0	445	304	11	2	2704	2	AKAP1	17	55197639	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08	47152374	55197639	25997571	26	10640										
AFG3L2	10939	broad.mit.edu	37	chr18	12360038	12360038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	gtccacactgccaatattaaAccaaacgtattgctataaaa	4	10	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.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		Somatic					p.F214L	NM_006796.2	NP_006787.2	WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	G	12360038	A	G	12360038	3	3	286	1	0	0	0	0	1	0	0	0	360	43	2	2	1797	2	AFG3L2	18	12360038	Missense_Mutation	SNP	A	TCGA-VP-A875-01A-31D-A34U-08		12360038	65717210	27	10641										
NAGA	4668	broad.mit.edu	37	chr22	42461779	42461779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.175	4.7	0.671428571428571	1	1	0	agtgcccagggccggccactGgctgcagtatgtcctggtgc	15	13	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.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		Somatic				NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L	p.P241L	NM_000262.2	NP_000253.1	WXS	Illumina GAIIx	Phase_I	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	4	37	---	---	---	---	A	42461779	G	A	42461779	3	1	286	1	0	0	0	0	1	0	0	0	10141	1348	47	2	529	2	NAGA	22	42461779	Missense_Mutation	SNP	G	TCGA-VP-A875-01A-31D-A34U-08		42461779	8842787	28	10642										
VPS13D	55187	broad.mit.edu	37	chr1	12446347	12446347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	aatcaatgtgcactatacacAgctggcaaccagtcacatgc	7	12	2	0	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_ENST00000356315.4_Missense_Mutation_p.Q3838R|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)		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		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR	p.Q3863R	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	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	27	51	---	---	---	---	G	12446347	A	G	12446347	3	3	287	1	0	0	0	0	1	0	0	0	17189	188	7	2	11822	2	VPS13D	1	12446347	Missense_Mutation	SNP	A	TCGA-VP-A876-01A-11D-A34U-08		12446347	236804274	1	10643										
RETSAT	54884	broad.mit.edu	37	chr2	85570403	85570403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	tgcccggatcctagaatcaaGattcttaaggtctgagtaca	9	9	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.chr2:85570403G>A	ENST00000295802.4	-	11	1907	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F	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		Somatic				RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F	p.L599F	NM_017750.3	NP_060220.3	WXS	Illumina GAIIx	Phase_I	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	4	88	---	---	---	---	A	85570403	G	A	85570403	3	1	287	1	0	0	0	0	1	0	0	0	13238	942	33	2	41	2	RETSAT	2	85570403	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		85570403	157628970	2	10644										
SCN5A	6331	broad.mit.edu	37	chr3	38591846	38591846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	cacggtccctgtccggagaaGgggggaagtcggcgagatct	17	10	1	2	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_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000413689.1_Missense_Mutation_p.P2006H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000451551.2_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		Somatic				SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H	p.P2006H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina GAIIx	Phase_I	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	5	43	---	---	---	---	T	38591846	G	T	38591846	3	4	287	1	0	0	0	0	1	0	0	0	13922	1000	35	1	37	1	SCN5A	3	38591846	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		38591846	159430584	3	10645										
HSPA1L	3305	broad.mit.edu	37	chr6	31778218	31778218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	caatctcctccttgctcaggCggcccttgtcattggtgatg	10	13	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.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	3305				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		Somatic				HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	p.R511H	NM_005527.3	NP_005518.3	WXS	Illumina GAIIx	Phase_I	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	5	171	---	---	---	---	T	31778218	C	T	31778218	3	4	287	1	0	0	0	0	1	0	0	0	7410	768	27	2	397	2	HSPA1L	6	31778218	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		31778218	139336849	4	10646										
C7orf36	57002	broad.mit.edu	37	chr7	39606042	39606042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	cgtgggttcaagcagcctccTtgatccagggccctggagac	13	13	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			Somatic				YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L	p.L9L	NM_001282446.1	NP_001269375.1	WXS	Illumina GAIIx	Phase_I	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	8	33	---	---	---	---	C	39606042	T	C	39606042	2	2	287	1	0	0	0	0	0	0	0	1	2390	1606	56	2		2	C7orf36	7	39606042	Silent	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		39606042	119532621	5	10647										
COL14A1	7373	broad.mit.edu	37	chr8	121237425	121237425	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	atctatgatgaaggacagtcAgagcctctgactggagtttt	11	7	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.chr8:121237425A>T	ENST00000297848.3	+	15	2106	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_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			Somatic				COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S	p.S612S	NM_021110.1	NP_066933.1	WXS	Illumina GAIIx	Phase_I	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	37	38	---	---	---	---	T	121237425	A	T	121237425	2	4	287	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	6	10648										
DMRT2	10655	broad.mit.edu	37	chr9	1057164	1057164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	tagatgtgcaaaagacctttTtgtagccaaacaagttggaa	9	6	0	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.chr9:1057164T>C	ENST00000358146.2	+	3	1577	c.1577T>C	c.(1576-1578)tTt>tCt	p.F526S	DMRT2_ENST00000382251.3_Missense_Mutation_p.F526S|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_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		Somatic				DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S|DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR	p.F526S			WXS	Illumina GAIIx	Phase_I	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	52	57	---	---	---	---	C	1057164	T	C	1057164	3	2	287	1	0	0	0	0	1	0	0	0	4586	1841	64	2	1644	2	DMRT2	9	1057164	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08		1057164	140156267	7	10649										
GABBR2	9568	broad.mit.edu	37	chr9	101133846	101133846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	agcccacggtgagaatccagGtcctgacctagaggccatga	12	12	0	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.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		Somatic					p.T557I	NM_005458.7	NP_005449.5	WXS	Illumina GAIIx	Phase_I	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	10	17	---	---	---	---	A	101133846	G	A	101133846	3	1	287	1	0	0	0	0	1	0	0	0	6156	1261	44	2	1187	2	GABBR2	9	101133846	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08	100076682	101133846	40079585	8	10650										
BMI1	648	broad.mit.edu	37	chr10	22615874	22615874	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	agcaagtattgtcctatttgTgatgtccaagttcacaagac	8	8	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.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*		Somatic				COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	p.C56*	NM_005180.8	NP_005171.4	WXS	Illumina GAIIx	Phase_I					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	73	127	---	---	---	---	A	22615874	T	A	22615874	4	1	287	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	9	10651										
TMEM180	79847	broad.mit.edu	37	chr10	104232673	104232673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	ctggagcatctgttgtccgaCcatatctccctttccacggg	9	14	2	0			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			Somatic				TMEM180_ENST00000366277.2_Silent_p.D26D	p.D297D	NM_024789.3	NP_079065.2	WXS	Illumina GAIIx	Phase_I	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	8	112	---	---	---	---	T	104232673	C	T	104232673	2	4	287	1	0	0	0	0	0	0	0	1	16096	506	18	2		2	TMEM180	10	104232673	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	81616799	104232673	31302074	10	10652										
OR5A1	219982	broad.mit.edu	37	chr11	59211176	59211176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	gcggacccaacatcatcaacCacttcttctgcgacctccca	5	18	4	0			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		Somatic					p.H179Y	NM_001004728.1	NP_001004728.1	WXS	Illumina GAIIx	Phase_I	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	89	156	---	---	---	---	T	59211176	C	T	59211176	3	4	287	1	0	0	0	0	1	0	0	0	11139	594	21	2	537	2	OR5A1	11	59211176	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		59211176	75795340	11	10653										
NALCN	259232	broad.mit.edu	37	chr13	101890183	101890183	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	aattacgagtagtagttcgaAtttgtggagagatgagctaa	12	3	0	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.chr13:101890183A>T	ENST00000251127.6	-	12	1438	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F453I	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		Somatic				NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F453I	p.F453I	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	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	4	172	---	---	---	---	T	101890183	A	T	101890183	3	4	287	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	12	10654										
TGFB1I1	7041	broad.mit.edu	37	chr16	31485243	31485243	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	ggtgtcttgggtaccgggctCtgtgagctagatcggttgct	16	8	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.chr16:31485243C>T	ENST00000394863.3	+	4	400	c.270C>T	c.(268-270)ctC>ctT	p.L90L	TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000394858.2_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			Somatic				TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000394858.2_Silent_p.L73L	p.L90L	NM_001042454.2	NP_001035919.1	WXS	Illumina GAIIx	Phase_I	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	7	87	---	---	---	---	T	31485243	C	T	31485243	2	4	287	1	0	0	0	0	0	0	0	1	15814	900	32	2		2	TGFB1I1	16	31485243	Silent	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		31485243	58869510	13	10655										
TP53	7157	broad.mit.edu	37	chr17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	gacaggcacaaacacgcaccTcaaagctgttccgtcccagt	8	15	1	0			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_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000420246.2_Missense_Mutation_p.E271V|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)	Somatic				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V	p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	12	3	---	---	---	---	A	7577126	T	A	7577126	3	1	287	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	14	10656										
KRT19	3880	broad.mit.edu	37	chr17	39680513	39680513	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	cagcgacctcccggttcaatTcttcagtctgcagagagagg	11	12	4	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.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		Somatic					p.E277V	NM_002276.4	NP_002267.2	WXS	Illumina GAIIx	Phase_I					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	4	45	---	---	---	---	A	39680513	T	A	39680513	3	1	287	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	15	10657										
PLCB4	5332	broad.mit.edu	37	chr20	9402051	9402051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	aaggaattccgaactcgcatGgttatgaataatggactcaa	9	7	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.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_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR			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		Somatic				PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I	p.M742I	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	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	6	91	---	---	---	---	C	9402051	G	C	9402051	3	2	287	1	0	0	0	0	1	0	0	0	12030	1348	47	4	2356	4	PLCB4	20	9402051	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		9402051	53623469	16	10658										
CYTSA	23384	broad.mit.edu	37	chr22	24761555	24761555	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	tccacagctttccctgtcctCttctccaacggcatctgtga	6	16	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.chr22:24761555C>T	ENST00000314328.9	+	13	3224	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L_ENST00000437398.1_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		Somatic				SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F	p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	WXS	Illumina GAIIx	Phase_I	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	10	85	---	---	---	---	T	24761555	C	T	24761555	3	4	287	1	0	0	0	0	1	0	0	0	4209	913	32	2	2981	2	CYTSA	22	24761555	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08		24761555	26543011	17	10659										
LARGE	9215	broad.mit.edu	37	chr22	34046652	34046652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	tgacagagacacgggctttcCatctggggagcgaaacacca	12	11	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.chr22:34046652C>T	ENST00000354992.2	-	4	680	c.109G>A	c.(109-111)Gga>Aga	p.G37R	LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_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		Somatic				LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R	p.G37R	NM_004737.4	NP_004728.1	WXS	Illumina GAIIx	Phase_I	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	5	28	---	---	---	---	T	34046652	C	T	34046652	3	4	287	1	0	0	0	0	1	0	0	0	8627	603	21	2	2213	2	LARGE	22	34046652	Missense_Mutation	SNP	C	TCGA-VP-A876-01A-11D-A34U-08	9285097	34046652	17257914	18	10660										
FIGF	2277	broad.mit.edu	37	chrX	15373392	15373392	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	caggcactaattcaggtactGatgtcaaaggcactgatatc	9	9	2	2	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		Somatic					p.S174L	NM_004469.4	NP_004460.1	WXS	Illumina GAIIx	Phase_I	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	5	46	---	---	---	---	A	15373392	G	A	15373392	3	1	287	1	0	0	0	0	1	0	0	0	5889	1294	45	2	559	2	FIGF	23	15373392	Missense_Mutation	SNP	G	TCGA-VP-A876-01A-11D-A34U-08		15373392	139897168	19	10661										
ZNF182	7569	broad.mit.edu	37	chrX	47835730	47835730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	4	0.930579858446434	2.28333333333333	0	2.53703703703704	0.0285714285714286	1	0	atgagttctttgatgtacagTgaatgttgacttttctcgga	10	5	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.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		Somatic				ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A	p.T586A	NM_001178099.1	NP_001171570.1	WXS	Illumina GAIIx	Phase_I	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	13	54	---	---	---	---	C	47835730	T	C	47835730	3	2	287	1	0	0	0	0	1	0	0	0	17747	1696	59	2	167	2	ZNF182	23	47835730	Missense_Mutation	SNP	T	TCGA-VP-A876-01A-11D-A34U-08	32462338	47835730	107434830	20	10662										
NPHP4	261734	broad.mit.edu	37	chr1	5940290	5940290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	aacctctcactttctgttcaCacgggtgacctacatgaaaa	6	12	3	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.chr1:5940290C>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		Somatic				NPHP4_ENST00000478423.2_5'UTR	p.C832Y	NM_015102.3	NP_055917.1	WXS	Illumina GAIIx	Phase_I	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	5	23	---	---	---	---	T	5940290	C	T	5940290	3	4	288	1	0	0	0	0	1	0	0	0	10581	478	17	2	1833	2	NPHP4	1	5940290	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		5940290	243310331	1	10663										
CDC20	991	broad.mit.edu	37	chr1	43828701	43828701	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	gcagcagcagatgagaccctGaggctatggcgctgttttga	14	9	0	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.chr1:43828701G>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			Somatic				CDC20_ENST00000310955.6_Silent_p.L467L	p.L467L			WXS	Illumina GAIIx	Phase_I	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	22	58	---	---	---	---	A	43828701	G	A	43828701	2	1	288	1	0	0	0	0	0	0	0	1	3059	1277	45	2		2	CDC20	1	43828701	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	37888411	43828701	205421920	2	10664										
DPYD	1806	broad.mit.edu	37	chr1	97700433	97700433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ggacggaagcaccactatggAgaaactgaagaccactttca	10	10	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.chr1:97700433A>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		Somatic				DPYD-AS1_ENST00000422980.1_RNA	p.L806P	NM_000110.3	NP_000101	WXS	Illumina GAIIx	Phase_I	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	6	15	---	---	---	---	G	97700433	A	G	97700433	3	3	288	1	0	0	0	0	1	0	0	0	4745	304	11	2	680	2	DPYD	1	97700433	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	53871732	97700433	151550188	3	10665										
SPTA1	6708	broad.mit.edu	37	chr1	158606472	158606472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	caccagctccccctctaggcGtttgtgcttcttcagcaagt	8	15	3	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.chr1:158606472G>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																																						ENST00000368147.4																			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		Somatic					p.R1757C	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			37	5449	-	all_hematologic(112;0.0378)							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	21	83	---	---	---	---	A	158606472	G	A	158606472	3	1	288	1	0	0	0	0	1	0	0	0	15115	1145	40	2	2054	2	SPTA1	1	158606472	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	60906039	158606472	90644149	4	10666										
HMCN1	83872	broad.mit.edu	37	chr1	186097410	186097410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ttaacatggaccttcaataaCaatattattccaggttggtc	6	8	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.chr1:186097410C>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		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.N4297K	p.N4297K	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	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	9	37	---	---	---	---	A	186097410	C	A	186097410	3	1	288	1	0	0	0	0	1	0	0	0	7220	477	17	3	13221	3	HMCN1	1	186097410	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	27490938	186097410	63153211	5	10667										
AGPS	8540	broad.mit.edu	37	chr2	178402827	178402827	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	aagttacggaagcaatggctAaaggaaagtatctctgatgt	11	5	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.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			Somatic				AGPS_ENST00000409888.1_Silent_p.L158L	p.L627L	NM_003659.3	NP_003650.1	WXS	Illumina GAIIx	Phase_I	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	20	79	---	---	---	---	G	178402827	A	G	178402827	2	3	288	1	0	0	0	0	0	0	0	1	394	349	13	2		2	AGPS	2	178402827	Silent	SNP	A	TCGA-VP-A878-01A-31D-A34U-08		178402827	64796546	6	10668										
TTN	7273	broad.mit.edu	37	chr2	179629396	179629396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	tgaagaaatttgcacttgaaGccagtggaaagcagctgctc	11	8	0	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.chr2:179629396G>A	ENST00000591111.1	-	42	10070	c.9846C>T	c.(9844-9846)ggC>ggT	p.G3282G	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Silent_p.G3282G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Silent_p.G3282G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000460472.2_Silent_p.G3236G			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			Somatic				TTN_ENST00000360870.5_Silent_p.G3282G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G3282G|TTN_ENST00000342175.6_Silent_p.G3236G|TTN_ENST00000359218.5_Silent_p.G3236G|TTN_ENST00000591111.1_Silent_p.G3282G|TTN_ENST00000460472.2_Silent_p.G3236G	p.G3282G	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	27	124	---	---	---	---	A	179629396	G	A	179629396	2	1	288	1	0	0	0	0	0	0	0	1	16732	958	34	2		2	TTN	2	179629396	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	1226569	179629396	63569977	7	10669										
ARAP2	116984	broad.mit.edu	37	chr4	36130197	36130197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	gtagagctccttagtaagcaGtgcatcatcaatgtcagaga	10	8	3	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.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			Somatic					p.L1200L	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	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	13	44	---	---	---	---	A	36130197	G	A	36130197	2	1	288	1	0	0	0	0	0	0	0	1	839	1020	36	2		2	ARAP2	4	36130197	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		36130197	155024079	8	10670										
TTC29	83894	broad.mit.edu	37	chr4	147628687	147628687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	tgagatacagcttccactgtGgatcctctaaactcttctaa	6	11	3	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.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			Somatic				TTC29_ENST00000398886.4_Silent_p.S475S|TTC29_ENST00000325106.4_Silent_p.S449S	p.S475S			WXS	Illumina GAIIx	Phase_I	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	3	30	---	---	---	---	A	147628687	G	A	147628687	2	1	288	1	0	0	0	0	0	0	0	1	16693	1335	47	2		2	TTC29	4	147628687	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	111498490	147628687	43525589	9	10671										
IL6ST	3572	broad.mit.edu	37	chr5	55248076	55248076	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	aaagaagtgagtttggacttAcgagcttgtttaaggtatgc	12	4	0	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.chr5:55248076A>C	ENST00000381298.2	-	12	1865		c.e12+1		IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site	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			Somatic				IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Splice_Site		NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	WXS	Illumina GAIIx	Phase_I	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	14	43	---	---	---	---	C	55248076	A	C	55248076	5	2	288	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		55248076	125667184	10	10672										
BPHL	670	broad.mit.edu	37	chr6	3127486	3127486	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ctgtttttaggaagtggagaGactgattttggacctcagct	12	6	1	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.chr6:3127486G>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		Somatic				BPHL_ENST00000434640.1_Missense_Mutation_p.E57D|BPHL_ENST00000380375.3_Missense_Mutation_p.E57D|BPHL_ENST00000380379.5_Missense_Mutation_p.E74D	p.E57D			WXS	Illumina GAIIx	Phase_I	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	10	39	---	---	---	---	T	3127486	G	T	3127486	3	4	288	1	0	0	0	0	1	0	0	0	1489	933	33	3	232	3	BPHL	6	3127486	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		3127486	167987581	11	10673										
HIVEP1	3096	broad.mit.edu	37	chr6	12120756	12120756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	aaaaaacagttcaatggatgCcccaaatcagacttcacagg	7	10	3	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.chr6:12120756C>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		Somatic					p.A243V	NM_002114.2	NP_002105.2	WXS	Illumina GAIIx	Phase_I	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	5	167	---	---	---	---	T	12120756	C	T	12120756	3	4	288	1	0	0	0	0	1	0	0	0	7186	739	26	2	738	2	HIVEP1	6	12120756	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	8993270	12120756	158994311	12	10674										
TRRAP	8295	broad.mit.edu	37	chr7	98515241	98515241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	gacgctggagctgtgtgtggAcaacctgcagcccgacttcc	13	13	0	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.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		Somatic				TRRAP_ENST00000446306.3_Missense_Mutation_p.D853G|TRRAP_ENST00000355540.3_Missense_Mutation_p.D854G	p.D854G	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	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	10	40	---	---	---	---	G	98515241	A	G	98515241	3	3	288	1	0	0	0	0	1	0	0	0	16598	275	10	2	2635	2	TRRAP	7	98515241	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08		98515241	60623422	13	10675										
MUC17	140453	broad.mit.edu	37	chr7	100677794	100677794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	8	13	1	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		Somatic					p.P1033S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	5	508	---	---	---	---	T	100677794	C	T	100677794	3	4	288	1	0	0	0	0	1	0	0	0	9974	739	26	2	3107	2	MUC17	7	100677794	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	2162553	100677794	58460869	14	10676										
MLL5	55904	broad.mit.edu	37	chr7	104747889	104747890	+	Frame_Shift_Del	DEL	AA	AA	-													0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	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	KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.K996fs|CTB-152G17.6_ENST00000607968.1_RNA	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)ataaagfs		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		Somatic				KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.K996fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.K51fs	p.K996fs			WXS	Illumina GAIIx	Phase_I					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	288	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	15	10677										
SLC26A3	1811	broad.mit.edu	37	chr7	107431510	107431510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	cacctggatgattccagaaaGcactgtgactgatgccgccg	11	12	0	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.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		Somatic				SLC26A3_ENST00000422236.2_Missense_Mutation_p.L150F	p.L185F	NM_000111.2	NP_000102.1	WXS	Illumina GAIIx	Phase_I	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	6	28	---	---	---	---	A	107431510	G	A	107431510	3	1	288	1	0	0	0	0	1	0	0	0	14518	971	34	2	1809	2	SLC26A3	7	107431510	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08	2683621	107431510	51707153	16	10678										
ZMYND11	10771	broad.mit.edu	37	chr10	288038	288041	+	Frame_Shift_Del	DEL	CAAT	CAAT	-													0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	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_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs			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																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(907-912)gacaatfs		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		Somatic				ZMYND11_ENST00000602682.1_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000545619.1_Frame_Shift_Del_p.DN183fs|ZMYND11_ENST00000509513.2_Frame_Shift_Del_p.DN302fs|ZMYND11_ENST00000381591.1_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000397959.3_Frame_Shift_Del_p.DN218fs|ZMYND11_ENST00000381584.1_Frame_Shift_Del_p.DN286fs|ZMYND11_ENST00000381602.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000403354.1_Frame_Shift_Del_p.DN223fs|ZMYND11_ENST00000309776.4_Frame_Shift_Del_p.DN263fs|ZMYND11_ENST00000558098.2_Frame_Shift_Del_p.DN303fs|ZMYND11_ENST00000402736.1_Frame_Shift_Del_p.DN272fs|ZMYND11_ENST00000381607.4_Frame_Shift_Del_p.DN209fs|ZMYND11_ENST00000535374.1_Frame_Shift_Del_p.DN98fs|ZMYND11_ENST00000381604.4_Frame_Shift_Del_p.DN263fs	p.DN303fs			WXS	Illumina GAIIx	Phase_I	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					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Frame_Shift_Del	DEL	ENST00000397962.3	37	c.909_912delCAAT	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	288	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	17	10679										
PCDH15	65217	broad.mit.edu	37	chr10	55591154	55591154	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ggccagagccaacaaggcccCttctgtgtatcctagacttt	9	13	1	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.chr10:55591154C>G	ENST00000320301.6	-	30	4517	c.4123G>C	c.(4123-4125)Ggg>Cgg	p.G1375R	PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1382R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395440.1_Intron	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)	Somatic				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R	p.G1382R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	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	5	82	---	---	---	---	G	55591154	C	G	55591154	3	3	288	1	0	0	0	0	1	0	0	0	11511	681	24	4	3379	4	PCDH15	10	55591154	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	55303116	55591154	79943593	18	10680										
DNTT	1791	broad.mit.edu	37	chr10	98078274	98078274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	gtggaaatgacaggaaaacaCcagcttgttgtaagtgtcat	11	6	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.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		Somatic				DNTT_ENST00000371174.2_Missense_Mutation_p.H123Q	p.H123Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	WXS	Illumina GAIIx	Phase_I	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	10	55	---	---	---	---	A	98078274	C	A	98078274	3	1	288	1	0	0	0	0	1	0	0	0	4680	506	18	3	375	3	DNTT	10	98078274	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	42487120	98078274	37456473	19	10681										
CHID1	66005	broad.mit.edu	37	chr11	884111	884111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ggtcatgaggctgaaaccatCcagcacgggggccagctgct	14	12	1	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.chr11:884111C>A	ENST00000449825.1	-	9	1116	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000526714.1_Intron|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000336845.5_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		Somatic				CHID1_ENST00000436108.2_Missense_Mutation_p.D254Y|CHID1_ENST00000528581.1_Missense_Mutation_p.D279Y|CHID1_ENST00000454838.2_Missense_Mutation_p.D279Y|CHID1_ENST00000336845.5_Missense_Mutation_p.D279Y|CHID1_ENST00000323578.8_Missense_Mutation_p.D254Y|CHID1_ENST00000323541.7_Missense_Mutation_p.D284Y|CHID1_ENST00000429789.2_Missense_Mutation_p.D223Y|CHID1_ENST00000526714.1_Intron	p.D254Y	NM_001142675.1	NP_001136147.1	WXS	Illumina GAIIx	Phase_I	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	12	50	---	---	---	---	A	884111	C	A	884111	3	1	288	1	0	0	0	0	1	0	0	0	3345	855	30	3	441	3	CHID1	11	884111	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08		884111	134122405	20	10682										
OR5D13	390142	broad.mit.edu	37	chr11	55541365	55541365	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	tcttctggtggctgggtcctAtacatgggggatagtgtgct	15	7	2	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.chr11:55541365A>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		Somatic					p.Y151F	NM_001001967.1	NP_001001967.1	WXS	Illumina GAIIx	Phase_I	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	33	140	---	---	---	---	T	55541365	A	T	55541365	3	4	288	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	21	10683										
PKD1	5310	broad.mit.edu	37	chr16	2161025	2161025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	tctggctgcagggtgacgttGcccacctctggctccacgca	12	15	2	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	PKD1_ENST00000423118.1_Silent_p.G1381G|RP11-304L19.4_ENST00000568795.1_RNA	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			Somatic				PKD1_ENST00000423118.1_Silent_p.G1381G	p.G1381G	NM_001009944.2	NP_001009944	WXS	Illumina GAIIx	Phase_I	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	9	49	---	---	---	---	A	2161025	G	A	2161025	2	1	288	1	0	0	0	0	0	0	0	1	11963	1306	46	2		2	PKD1	16	2161025	Silent	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		2161025	88193728	22	10684										
MYH8	4626	broad.mit.edu	37	chr17	10302114	10302114	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	ttcctctagttgatgtttcaGctcttcaatctgctgagtag	8	9	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.chr17:10302114G>C	ENST00000403437.2	-	29	4046	c.3952C>G	c.(3952-3954)Ctg>Gtg	p.L1318V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_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		Somatic				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.L1318V	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	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	13	56	---	---	---	---	C	10302114	G	C	10302114	3	2	288	1	0	0	0	0	1	0	0	0	10041	962	34	4	1909	4	MYH8	17	10302114	Missense_Mutation	SNP	G	TCGA-VP-A878-01A-31D-A34U-08		10302114	70893096	23	10685										
DNAH9	1770	broad.mit.edu	37	chr17	11522871	11522871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	tgtttgtataccaggcctctAattatctcagcccagaagac	7	11	2	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.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																																						ENST00000262442.4																			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		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.N375D	p.N375D	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	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)				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	18	81	---	---	---	---	G	11522871	A	G	11522871	3	3	288	1	0	0	0	0	1	0	0	0	4608	362	13	2	1145	2	DNAH9	17	11522871	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08	1220757	11522871	69672339	24	10686										
ATPAF2	91647	broad.mit.edu	37	chr17	17921927	17921927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	agagatggatgaagagggtgCcggcggcggtgcgggcccgc	21	9	0	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.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		Somatic				ATPAF2_ENST00000585101.1_Intron	p.G269D	NM_145691.3	NP_663729.1	WXS	Illumina GAIIx	Phase_I	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	19	77	---	---	---	---	T	17921927	C	T	17921927	3	4	288	1	0	0	0	0	1	0	0	0	1201	739	26	2	67	2	ATPAF2	17	17921927	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	6399056	17921927	63273283	25	10687										
SPOP	8405	broad.mit.edu	37	chr17	47699392	47699392	+	Frame_Shift_Del	DEL	T	T	-													0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	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_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393331.3_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR	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)aatfs		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)	Somatic				SPOP_ENST00000503676.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Frame_Shift_Del_p.N40fs|SPOP_ENST00000504102.1_Frame_Shift_Del_p.N40fs|SPOP_ENST00000393328.2_Frame_Shift_Del_p.N40fs	p.N40fs	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	288	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	26	10688										
ARSF	416	broad.mit.edu	37	chrX	3002434	3002434	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	taacacggaattagcctttgAgagtcagctctggctctgtg	11	9	3	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.chrX:3002434A>G	ENST00000381127.1	+	6	778	c.557A>G	c.(556-558)gAg>gGg	p.E186G	ARSF_ENST00000537104.1_Missense_Mutation_p.E186G|ARSF_ENST00000359361.2_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		Somatic				ARSF_ENST00000359361.2_Missense_Mutation_p.E186G|ARSF_ENST00000537104.1_Missense_Mutation_p.E186G	p.E186G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	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	5	34	---	---	---	---	G	3002434	A	G	3002434	3	3	288	1	0	0	0	0	1	0	0	0	991	304	11	2	575	2	ARSF	23	3002434	Missense_Mutation	SNP	A	TCGA-VP-A878-01A-31D-A34U-08		3002434	152268126	27	10689										
ATRX	546	broad.mit.edu	37	chrX	76855227	76855227	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.467099165894347	0	0.552026286966046	1	1	0	taatcatcggagcttaaactCatggaggtttcatcagaatc	8	8	4	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.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		Somatic				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M1882I	p.M1920I	NM_000489.3	NP_000480.3	WXS	Illumina GAIIx	Phase_I	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	11	15	---	---	---	---	A	76855227	C	A	76855227	3	1	288	1	0	0	0	0	1	0	0	0	1208	826	29	3	1766	3	ATRX	23	76855227	Missense_Mutation	SNP	C	TCGA-VP-A878-01A-31D-A34U-08	73852793	76855227	78415333	28	10690										
C1QC	714	broad.mit.edu	37	chr1	22973820	22973820	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ggccccatgggaccccctggGatgccaggggtgcccggccc	16	17	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			Somatic				C1QC_ENST00000374640.4_Silent_p.G94G|C1QC_ENST00000374637.1_Silent_p.G94G	p.G94G	NM_001114101.1	NP_001107573.1	WXS	Illumina GAIIx	Phase_I	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	11	40	---	---	---	---	A	22973820	G	A	22973820	2	1	289	1	0	0	0	0	0	0	0	1	1957	1161	41	2		2	C1QC	1	22973820	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		22973820	226276801	1	10691										
ASAP3	55616	broad.mit.edu	37	chr1	23782631	23782631	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ttaccaaggccggagctatgGattgcccgcacagccttctt	10	13	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.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			Somatic				ASAP3_ENST00000437606.2_Silent_p.I62I|ASAP3_ENST00000449467.2_5'UTR	p.I62I	NM_017707.3	NP_060177.2	WXS	Illumina GAIIx	Phase_I	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	9	28	---	---	---	---	A	23782631	G	A	23782631	2	1	289	1	0	0	0	0	0	0	0	1	1012	1164	41	2		2	ASAP3	1	23782631	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	808811	23782631	225467990	2	10692										
CACNA1E	777	broad.mit.edu	37	chr1	181725150	181725150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tgaagggccgggaatggaagCgccatgaattccactacgac	13	10	0	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_ENST00000526775.1_Missense_Mutation_p.R1331C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C	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		Somatic				CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1350C	p.R1331C	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	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	4	38	---	---	---	---	T	181725150	C	T	181725150	3	4	289	1	0	0	0	0	1	0	0	0	2542	768	27	2	4162	2	CACNA1E	1	181725150	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	157942519	181725150	67525471	3	10693										
ASPM	259266	broad.mit.edu	37	chr1	197111887	197111887	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ggtacaggtggccttcctttTagtaacagtggcagaaagta	12	7	0	1	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*		Somatic				ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499*	p.K499*	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	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	5	163	---	---	---	---	A	197111887	T	A	197111887	4	1	289	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	4	10694										
TARBP1	6894	broad.mit.edu	37	chr1	234536985	234536985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	aaaagaaatgctcctgaatgCgttgccaattcttcttggca	8	9	2	2	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		Somatic				TARBP1_ENST00000483404.1_5'UTR	p.R1338H	NM_005646.3	NP_005637.3	WXS	Illumina GAIIx	Phase_I	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	6	23	---	---	---	---	T	234536985	C	T	234536985	3	4	289	1	0	0	0	0	1	0	0	0	15552	768	27	2	876	2	TARBP1	1	234536985	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	37425098	234536985	14713636	5	10695										
LRP1B	53353	broad.mit.edu	37	chr2	141072599	141072599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	aataactgggccaacagtgaCacctcaaatcacctttctca	5	13	3	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.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)	Somatic					p.C4237F	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	4	77	---	---	---	---	A	141072599	C	A	141072599	3	1	289	1	0	0	0	0	1	0	0	0	8955	478	17	3	1125	3	LRP1B	2	141072599	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		141072599	102126774	6	10696										
YEATS2	55689	broad.mit.edu	37	chr3	183490196	183490196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	caaggccagctcttctgtctCcaaagcagttgggccaaagc	10	13	3	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.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		Somatic					p.S684F	NM_018023.4	NP_060493.3	WXS	Illumina GAIIx	Phase_I	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	20	73	---	---	---	---	T	183490196	C	T	183490196	3	4	289	1	0	0	0	0	1	0	0	0	17469	855	30	2	2109	2	YEATS2	3	183490196	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		183490196	14532234	7	10697										
SLC30A9	10463	broad.mit.edu	37	chr4	42024869	42024869	+	Frame_Shift_Del	DEL	T	T	-													0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	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																																						ENST00000264451.7																			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)cttfs		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		Somatic					p.L150fs	NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			5	629	+								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	289	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	8	10698										
CNOT6L	246175	broad.mit.edu	37	chr4	78641641	78641641	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	aggcaggagtggagggtggaGttcaagttgtgttaacagtg	18	3	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.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		Somatic				CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V	p.L538V			WXS	Illumina GAIIx	Phase_I	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	7	157	---	---	---	---	C	78641641	G	C	78641641	3	2	289	1	0	0	0	0	1	0	0	0	3623	1029	36	4	59	4	CNOT6L	4	78641641	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	36616772	78641641	112512635	9	10699										
KIAA1109	84162	broad.mit.edu	37	chr4	123237982	123237982	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	cgtatagtggatatcagagaActgaatgaacaggccaaagt	11	6	1	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			Somatic				KIAA1109_ENST00000388738.3_Silent_p.E3545E|KIAA1109_ENST00000455637.1_Silent_p.E3545E	p.E3545E			WXS	Illumina GAIIx	Phase_I	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	4	48	---	---	---	---	G	123237982	A	G	123237982	2	3	289	1	0	0	0	0	0	0	0	1	8208	40	2	2		2	KIAA1109	4	123237982	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	44596341	123237982	67916294	10	10700										
HIST1H3B	8358	broad.mit.edu	37	chr6	26031999	26031999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gccctaccaagtaggcctcaCaagcctcctgcagcgccatc	8	18	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.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		Somatic					p.C97Y	NM_003537.3	NP_003528.1	WXS	Illumina GAIIx	Phase_I	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	5	70	---	---	---	---	T	26031999	C	T	26031999	3	4	289	1	0	0	0	0	1	0	0	0	7156	478	17	2	124	2	HIST1H3B	6	26031999	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		26031999	145083068	11	10701										
GSTA3	2940	broad.mit.edu	37	chr6	52761716	52761716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tgggcaggttgctgattctgGttttcagggcctgtaattca	13	7	3	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.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		Somatic				GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S	p.T186S	NM_000847.4	NP_000838.3	WXS	Illumina GAIIx	Phase_I	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	13	104	---	---	---	---	C	52761716	G	C	52761716	3	2	289	1	0	0	0	0	1	0	0	0	6832	1261	44	4	115	4	GSTA3	6	52761716	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	26729717	52761716	118353351	12	10702										
SNAP91	9892	broad.mit.edu	37	chr6	84290295	84290295	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tggtgccatggttggcatcaAaagatcacctagaccatcaa	9	10	3	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_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000428679.2_Silent_p.L725L|SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000519133.1_5'Flank|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			Somatic				SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000439399.2_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000520213.1_Silent_p.L418L	p.L725L			WXS	Illumina GAIIx	Phase_I	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	8	46	---	---	---	---	G	84290295	A	G	84290295	2	3	289	1	0	0	0	0	0	0	0	1	14833	11	1	2		2	SNAP91	6	84290295	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	31528579	84290295	86824772	13	10703										
C6orf204	387119	broad.mit.edu	37	chr6	118790275	118790275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gaaagattaggctccttgccCtgagcacgctgattaagaat	10	9	0	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.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			Somatic				CEP85L_ENST00000368488.5_Silent_p.Q741Q	p.Q738Q	NM_001042475.2	NP_001035940.1	WXS	Illumina GAIIx	Phase_I	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	10	64	---	---	---	---	T	118790275	C	T	118790275	2	4	289	1	0	0	0	0	0	0	0	1	2353	680	24	2		2	C6orf204	6	118790275	Silent	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	34499980	118790275	52324792	14	10704										
PKD1L1	168507	broad.mit.edu	37	chr7	47944821	47944821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	cactggtggatcctctccaaAataccactcaaattccaggg	7	13	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.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		Somatic					p.F542V	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	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	20	89	---	---	---	---	C	47944821	A	C	47944821	3	2	289	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	15	10705										
ABCA13	154664	broad.mit.edu	37	chr7	48315425	48315425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	aaaagtgaaacaccttacaaCtttgaagaactatggcccaa	6	9	0	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		Somatic					p.N2054K	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	4	32	---	---	---	---	A	48315425	C	A	48315425	3	1	289	1	0	0	0	0	1	0	0	0	31	564	20	3	6057	3	ABCA13	7	48315425	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	370604	48315425	110823238	16	10706										
COBL	23242	broad.mit.edu	37	chr7	51096535	51096535	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ctgcttcaggcacagacgaaGacagggaaatgatcctgatg	12	9	1	4	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		Somatic				COBL_ENST00000265136.7_Missense_Mutation_p.S753C	p.S835C			WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---	C	51096535	G	C	51096535	3	2	289	1	0	0	0	0	1	0	0	0	3653	942	33	4	1543	4	COBL	7	51096535	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	2781110	51096535	108042128	17	10707										
MUC17	140453	broad.mit.edu	37	chr7	100681373	100681373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gcactccattcacaagtatgCctgtcagcaccatgccggta	8	14	2	0	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		Somatic					p.P2226S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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	5	636	---	---	---	---	T	100681373	C	T	100681373	3	4	289	1	0	0	0	0	1	0	0	0	9974	739	26	2	6686	2	MUC17	7	100681373	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	49584838	100681373	58457290	18	10708										
TG	7038	broad.mit.edu	37	chr8	134030207	134030207	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ttccaggcaccagagcccttGaactggacaggctcctggga	12	13	0	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_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.L2192F|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000542445.1_Missense_Mutation_p.L619F	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		Somatic				TG_ENST00000542445.1_Missense_Mutation_p.L619F|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.L2192F	p.L2249F	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	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	14	30	---	---	---	---	C	134030207	G	C	134030207	3	2	289	1	0	0	0	0	1	0	0	0	15810	1281	45	4	6897	4	TG	8	134030207	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		134030207	12333815	19	10709										
PTPRD	5789	broad.mit.edu	37	chr9	8636728	8636728	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ctgattgctgactttctttcCttttttgttccagacaattt	5	9	1	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.chr9:8636728C>A	ENST00000381196.4	-	10	724	c.181G>T	c.(181-183)Gga>Tga	p.G61*	PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_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*	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)	Somatic				PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_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_ENST00000463477.1_Nonsense_Mutation_p.G61*	p.G61*	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	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	12	109	---	---	---	---	A	8636728	C	A	8636728	4	1	289	1	0	0	0	0	0	1	0	0	12799	690	24	1	5761	1	PTPRD	9	8636728	Nonsense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		8636728	132576703	20	10710										
CYLC2	1539	broad.mit.edu	37	chr9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	aagaggagatcgtagacaacCattatggatgtaccgttctt	10	7	1	3	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		Somatic				CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	p.P74Q	NM_001340.3	NP_001331.1	WXS	Illumina GAIIx	Phase_I	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	17	50	---	---	---	---	A	105767017	C	A	105767017	3	1	289	1	0	0	0	0	1	0	0	0	4142	594	21	1	235	1	CYLC2	9	105767017	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	97130289	105767017	35446414	21	10711										
EDF1	8721	broad.mit.edu	37	chr9	139760662	139760662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tttggcctgggcggccgtagGgcccttcttgcgcagcaccg	15	14	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.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		Somatic				EDF1_ENST00000224073.1_Missense_Mutation_p.P17T|EDF1_ENST00000371649.1_Missense_Mutation_p.P17T	p.P17T	NM_153200.1	NP_694880.1	WXS	Illumina GAIIx	Phase_I	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	5	22	---	---	---	---	T	139760662	G	T	139760662	3	4	289	1	0	0	0	0	1	0	0	0	4914	1232	43	1	452	1	EDF1	9	139760662	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	33993645	139760662	1452769	22	10712										
DOCK1	1793	broad.mit.edu	37	chr10	129207655	129207655	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	agtgtcagagcagattgtaaGgtaataatcccatttttctt	8	6	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.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.(4279-4281)aGt>aAt		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			Somatic					p.S1427N	NM_001380.3	NP_001371.1	WXS	Illumina GAIIx	Phase_I	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.4280G>A		.	.	.	.	.	.	.	.	.	.	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	6	56	---	---	---	---	A	129207655	G	A	129207655	5	1	289	1	0	0	0	0	0	0	1	0	4684	1014	35	2	4446	2	DOCK1	10	129207655	Splice_Site	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		129207655	6327092	23	10713										
OR5A1	219982	broad.mit.edu	37	chr11	59210893	59210893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tctgctgtggctcccaatatGctcactgacttcttctggga	9	12	4	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.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		Somatic					p.M84I	NM_001004728.1	NP_001004728.1	WXS	Illumina GAIIx	Phase_I	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	5	104	---	---	---	---	T	59210893	G	T	59210893	3	4	289	1	0	0	0	0	1	0	0	0	11139	1319	46	3	254	3	OR5A1	11	59210893	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		59210893	75795623	24	10714										
HNRNPUL2	221092	broad.mit.edu	37	chr11	62484484	62484486	+	In_Frame_Del	DEL	TTC	TTC	-													0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	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)cagaac>cac		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		Somatic				HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.652_653QN>H	p.652_653QN>H	NM_001079559.2	NP_001073027.1	WXS	Illumina GAIIx	Phase_I	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	289	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	25	10715										
KIAA0528	9847	broad.mit.edu	37	chr12	22637658	22637658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gaataagacaaccttttccaAtaactgttgcatctgttggg	8	8	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.chr12:22637658A>G	ENST00000333957.4	-	13	1778	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T|C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T	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		Somatic				C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T	p.I508T	NM_014802.1	NP_055617.1	WXS	Illumina GAIIx	Phase_I					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	4	109	---	---	---	---	G	22637658	A	G	22637658	3	3	289	1	0	0	0	0	1	0	0	0	8182	101	4	2	1531	2	KIAA0528	12	22637658	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		22637658	111214237	26	10716										
XPO4	64328	broad.mit.edu	37	chr13	21373356	21373356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ccatatgtgcaaaacctcctAagactagagccttcatcaat	5	12	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.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		Somatic				XPO4_ENST00000255305.6_Missense_Mutation_p.L757S	p.L757S	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	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	14	364	---	---	---	---	G	21373356	A	G	21373356	3	3	289	1	0	0	0	0	1	0	0	0	17443	372	13	2	1217	2	XPO4	13	21373356	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		21373356	93796522	27	10717										
SLITRK5	26050	broad.mit.edu	37	chr13	88329858	88329858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	atcaccgcgggcccgcgctgCccaaggtgaagacgcccgcg	14	17	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.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		Somatic				SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S	p.P739S	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	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	19	98	---	---	---	---	T	88329858	C	T	88329858	3	4	289	1	0	0	0	0	1	0	0	0	14746	739	26	2	2217	2	SLITRK5	13	88329858	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08	66956502	88329858	26840020	28	10718										
MCF2L	23263	broad.mit.edu	37	chr13	113738343	113738343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gggagctggaaaactacactGactgcccagaactggttgga	13	9	0	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_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y			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		Somatic				MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D705Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y	p.D708Y			WXS	Illumina GAIIx	Phase_I	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	4	78	---	---	---	---	T	113738343	G	T	113738343	3	4	289	1	0	0	0	0	1	0	0	0	9379	1290	45	3	2359	3	MCF2L	13	113738343	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	25408485	113738343	1431535	29	10719										
CDC16	8881	broad.mit.edu	37	chr13	115027372	115027372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tatgttttaggtaacagttgAcaaatgggaacctttgttga	10	4	0	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.chr13:115027372A>G	ENST00000356221.3	+	15	1433	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	CDC16_ENST00000360383.3_Missense_Mutation_p.D442G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000252458.6_Missense_Mutation_p.D297G|CDC16_ENST00000375310.1_Missense_Mutation_p.D348G			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		Somatic				CDC16_ENST00000252458.6_Missense_Mutation_p.D297G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000356221.3_Missense_Mutation_p.D442G	p.D442G	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	WXS	Illumina GAIIx	Phase_I	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	5	80	---	---	---	---	G	115027372	A	G	115027372	3	3	289	1	0	0	0	0	1	0	0	0	3058	275	10	2	1383	2	CDC16	13	115027372	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	1289029	115027372	142506	30	10720										
THSD4	79875	broad.mit.edu	37	chr15	72037466	72037466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	atcgcagtaccctattttccGctgtgtgcacagaagcactc	8	13	0	1	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_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|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		Somatic				THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000357769.4_Missense_Mutation_p.R283H	p.R643H			WXS	Illumina GAIIx	Phase_I	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	92	321	---	---	---	---	A	72037466	G	A	72037466	3	1	289	1	0	0	0	0	1	0	0	0	15875	1087	38	2	1970	2	THSD4	15	72037466	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08		72037466	30493926	31	10721										
GOLGA6A	342096	broad.mit.edu	37	chr15	74368249	74368249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	caaagcctcacctgtgtcacGtgtgcgttcagcagcgcccg	11	15	3	0	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			Somatic					p.H214H	NM_001038640.2	NP_001033729.2	WXS	Illumina GAIIx	Phase_I	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	4	134	---	---	---	---	A	74368249	G	A	74368249	2	1	289	1	0	0	0	0	0	0	0	1	6557	1136	40	2		2	GOLGA6A	15	74368249	Silent	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	2330783	74368249	28163143	32	10722										
TLK2	11011	broad.mit.edu	37	chr17	60685506	60685506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ccagtagtaacacctgaagcAaaggtaagttttgtttgacc	9	8	0	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.chr17:60685506A>G	ENST00000326270.9	+	22	2410	c.2142A>G	c.(2140-2142)gcA>gcG	p.A714A	TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000582809.1_Silent_p.A543A|TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000542523.1_Silent_p.A660A	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			Somatic				TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000326270.9_Silent_p.A714A	p.A543A			WXS	Illumina GAIIx	Phase_I	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	6	33	---	---	---	---	G	60685506	A	G	60685506	2	3	289	1	0	0	0	0	0	0	0	1	15941	117	5	2		2	TLK2	17	60685506	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		60685506	20509704	33	10723										
UNC13D	201294	broad.mit.edu	37	chr17	73827403	73827403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	cctccaccagcactgtgagtGtgtgggtccagagcagggtc	14	12	0	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.chr17:73827403G>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		Somatic				UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I	p.T825I	NM_199242.2	NP_954712.1	WXS	Illumina GAIIx	Phase_I	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	13	26	---	---	---	---	A	73827403	G	A	73827403	3	1	289	1	0	0	0	0	1	0	0	0	16984	1377	48	2	826	2	UNC13D	17	73827403	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	13141897	73827403	7367807	34	10724										
PGLYRP2	114770	broad.mit.edu	37	chr19	15582860	15582860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gctgcagcagcttcgggcggCcccgataaggcgccgctccc	14	17	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.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		Somatic				PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G395D	p.G395D			WXS	Illumina GAIIx	Phase_I	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	6	38	---	---	---	---	T	15582860	C	T	15582860	3	4	289	1	0	0	0	0	1	0	0	0	11794	739	26	2	558	2	PGLYRP2	19	15582860	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		15582860	43546123	35	10725										
IL17RA	23765	broad.mit.edu	37	chr22	17586829	17586829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tcctgctcatcgtctgcatgAcctggaggctagctggtaag	12	11	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.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		Somatic					p.T344A	NM_014339.5	NP_055154.3	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---	G	17586829	A	G	17586829	3	3	289	1	0	0	0	0	1	0	0	0	7639	275	10	2	1072	2	IL17RA	22	17586829	Missense_Mutation	SNP	A	TCGA-VP-A879-01A-11D-A34U-08		17586829	33717737	36	10726										
PIWIL3	440822	broad.mit.edu	37	chr22	25147435	25147435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	ggattctgcttccaatcaatAtcatctactctgtaggtttt	6	9	5	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.chr22:25147435A>G	ENST00000332271.5	-	9	1424	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000533313.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR	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			Somatic				PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.D227D	p.D336D	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	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	43	123	---	---	---	---	G	25147435	A	G	25147435	2	3	289	1	0	0	0	0	0	0	0	1	11959	446	16	2		2	PIWIL3	22	25147435	Silent	SNP	A	TCGA-VP-A879-01A-11D-A34U-08	7560606	25147435	26157131	37	10727										
FOXR2	139628	broad.mit.edu	37	chrX	55650284	55650284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	tttagctgagcaaatccttgCcaaatacagagtcggagtaa	9	8	0	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: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		Somatic					p.A47V	NM_198451.3	NP_940853.1	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	T	55650284	C	T	55650284	3	4	289	1	0	0	0	0	1	0	0	0	6032	739	26	2	142	2	FOXR2	23	55650284	Missense_Mutation	SNP	C	TCGA-VP-A879-01A-11D-A34U-08		55650284	99620276	38	10728										
MAGEA10	4109	broad.mit.edu	37	chrX	151303840	151303840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	2	1	0.80667014069828	3.83168316831683	0	0.4	1	0	gcaggctatctgagcactctGgggaggatttggtgtctcat	14	8	3	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.chrX:151303840G>T	ENST00000370323.4	-	4	569	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	101	---	---	---	---	T	151303840	G	T	151303840	3	4	289	1	0	0	0	0	1	0	0	0	9164	1357	47	1	860	1	MAGEA10	23	151303840	Missense_Mutation	SNP	G	TCGA-VP-A879-01A-11D-A34U-08	95653556	151303840	3966720	39	10729										
KIF17	57576	broad.mit.edu	37	chr1	21009257	21009257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tcctcatccgagttctgcagGgcagccaccagctgcttcct	9	16	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.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A			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			Somatic				KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A	p.A784A			WXS	Illumina GAIIx	Phase_I	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	14	42	---	---	---	---	A	21009257	G	A	21009257	2	1	290	1	0	0	0	0	0	0	0	1	8279	1219	43	2		2	KIF17	1	21009257	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		21009257	228241364	1	10730										
HSPG2	3339	broad.mit.edu	37	chr1	22168751	22168751	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cggtaggaagacccctcactGggcgggacggtgactgtgaa	16	10	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.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			Somatic					p.P3011P	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	T	22168751	G	T	22168751	2	4	290	1	0	0	0	0	0	0	0	1	7430	1335	47	1		1	HSPG2	1	22168751	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	1159494	22168751	227081870	2	10731										
KCNA3	3738	broad.mit.edu	37	chr1	111217006	111217006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	aagaagtactcgttgcggagCgggtcgaagtacctcatgcg	14	9	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.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			Somatic					p.P142P	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	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	6	110	---	---	---	---	T	111217006	C	T	111217006	2	4	290	1	0	0	0	0	0	0	0	1	8004	755	27	2		2	KCNA3	1	111217006	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	89048255	111217006	138033615	3	10732										
AP4B1	10717	broad.mit.edu	37	chr1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cagacacatccgtgcagtacCctcgaagctcctctagcacc	7	17	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.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1_ENST00000462591.1_5'Flank|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	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		Somatic				AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E	p.G354E	NM_001253852.1	NP_001240781.1	WXS	Illumina GAIIx	Phase_I	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	145	208	---	---	---	---	T	114442579	C	T	114442579	3	4	290	1	0	0	0	0	1	0	0	0	751	623	22	2	1182	2	AP4B1	1	114442579	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	3225573	114442579	134808042	4	10733										
ILDR2	387597	broad.mit.edu	37	chr1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tcagcgaaggccgccagctcGtccatggaaacggccggcac	13	15	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.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E	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		Somatic				ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E	p.D428E	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	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	5	10	---	---	---	---	C	166890544	G	C	166890544	3	2	290	1	0	0	0	0	1	0	0	0	7710	1136	40	4	643	4	ILDR2	1	166890544	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	52447965	166890544	82360077	5	10734										
C1orf129	80133	broad.mit.edu	37	chr1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ttgtatgaaggatgttatgtTgcaggttatcactttgttga	11	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.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		Somatic				MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	p.L316S	NM_001163629.1	NP_001157101.1	WXS	Illumina GAIIx	Phase_I					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	41	49	---	---	---	---	C	170959063	T	C	170959063	3	2	290	1	0	0	0	0	1	0	0	0	1996	1821	63	2	985	2	C1orf129	1	170959063	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	4068519	170959063	78291558	6	10735										
USH2A	7399	broad.mit.edu	37	chr1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ttcaggctcagtccaggagaCattaaaggagtcaggtgaat	12	7	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)	Somatic	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			WXS	Illumina GAIIx	Phase_I	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	107	181	---	---	---	---	T	216166392	C	T	216166392	3	4	290	1	0	0	0	0	1	0	0	0	17033	478	17	2	8985	2	USH2A	1	216166392	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	45207329	216166392	33084229	7	10736										
DLEC1	9940	broad.mit.edu	37	chr3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ggagctgctggtgttttatgGgccacctttcccgctgcggg	15	11	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.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		Somatic				DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A	p.G1311A			WXS	Illumina GAIIx	Phase_I	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	31	27	---	---	---	---	C	38158019	G	C	38158019	3	2	290	1	0	0	0	0	1	0	0	0	4552	1232	43	4	4042	4	DLEC1	3	38158019	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		38158019	159864411	8	10737										
SCAND3	114821	broad.mit.edu	37	chr6	28554185	28554185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	agactggagctcctcaggcaGgatggtcaggaactgctcca	13	11	2	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.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			Somatic				SCAND3_ENST00000530247.1_Intron	p.L104L	NM_052923.1	NP_443155.1	WXS	Illumina GAIIx	Phase_I	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	5	132	---	---	---	---	A	28554185	G	A	28554185	2	1	290	1	0	0	0	0	0	0	0	1	13876	991	35	2		2	SCAND3	6	28554185	Silent	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		28554185	142560882	9	10738										
EYS	346007	broad.mit.edu	37	chr6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cagtgtgcattccttttagtCtgcagccaaaaagtaactga	8	9	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.chr6:66204918C>T	ENST00000370621.3	-	4	912	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000503581.1_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_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		Somatic				EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	p.R129K	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	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	12	16	---	---	---	---	T	66204918	C	T	66204918	3	4	290	1	0	0	0	0	1	0	0	0	5332	913	32	2	9170	2	EYS	6	66204918	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08	37650733	66204918	104910149	10	10739										
ZNF292	23036	broad.mit.edu	37	chr6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cgttttcctcctttataagtGtcatgccaacaaaaagtaac	5	10	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.chr6:87968799G>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		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	p.V1818F	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	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	5	13	---	---	---	---	T	87968799	G	T	87968799	3	4	290	1	0	0	0	0	1	0	0	0	17823	1377	48	3	5482	3	ZNF292	6	87968799	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	21763881	87968799	83146268	11	10740										
DDO	8528	broad.mit.edu	37	chr6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tctccaaccacgggaggtagGcagggcattcacatttcagg	12	11	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.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		Somatic				DDO_ENST00000368923.3_Intron	p.A173V	NM_003649.2	NP_003640.2	WXS	Illumina GAIIx	Phase_I	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	20	3	---	---	---	---	A	110726001	G	A	110726001	3	1	290	1	0	0	0	0	1	0	0	0	4334	1203	42	2	599	2	DDO	6	110726001	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	22757202	110726001	60389066	12	10741										
OSBPL3	26031	broad.mit.edu	37	chr7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tattaaaagctgaccttaaaGtgaagtaaactatagagata	7	4	0	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.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I	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		Somatic				OSBPL3_ENST00000396429.1_Missense_Mutation_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	p.T346I	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	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	10	57	---	---	---	---	A	24892244	G	A	24892244	3	1	290	1	0	0	0	0	1	0	0	0	11279	1029	36	2	1678	2	OSBPL3	7	24892244	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		24892244	134246419	13	10742										
GHRHR	2692	broad.mit.edu	37	chr7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cagacaatgctggcctgggcAtccgcctccccctggagctg	12	16	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.chr7:31016135A>G	ENST00000326139.2	+	11	1112	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.I292V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R	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		Somatic				GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R	p.I292V			WXS	Illumina GAIIx	Phase_I	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	11	21	---	---	---	---	G	31016135	A	G	31016135	3	3	290	1	0	0	0	0	1	0	0	0	6373	217	8	2	1148	2	GHRHR	7	31016135	Missense_Mutation	SNP	A	TCGA-VP-A87B-01A-11D-A34U-08	6123891	31016135	128122528	14	10743										
BBS9	27241	broad.mit.edu	37	chr7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ggagagctatgcttttggaaGatttctccctggctttcttc	10	9	2	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.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|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		Somatic				BBS9_ENST00000350941.3_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I	p.R173I	NM_198428.2	NP_940820.1	WXS	Illumina GAIIx	Phase_I	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	39	69	---	---	---	---	T	33296923	G	T	33296923	3	4	290	1	0	0	0	0	1	0	0	0	1342	942	33	3	536	3	BBS9	7	33296923	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	2280788	33296923	125841740	15	10744										
DOCK4	9732	broad.mit.edu	37	chr7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	aagccgggcagtaatgtggcGcttcacgtccttcatccggt	12	12	2	0	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		Somatic				DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C	p.R144C			WXS	Illumina GAIIx	Phase_I	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	13	17	---	---	---	---	A	111629104	G	A	111629104	3	1	290	1	0	0	0	0	1	0	0	0	4689	1087	38	2	5658	2	DOCK4	7	111629104	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	78332181	111629104	47509559	16	10745										
WBP11	51729	broad.mit.edu	37	chr12	14940329	14940329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ttgggtggggcacttaaaacCccagggtttggcaagggagc	16	8	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.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			Somatic					p.G532G	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	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	129	156	---	---	---	---	A	14940329	C	A	14940329	2	1	290	1	0	0	0	0	0	0	0	1	17255	610	22	1		1	WBP11	12	14940329	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		14940329	118911566	17	10746										
ART4	420	broad.mit.edu	37	chr12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	gtctttcctcagcagctggaTtgctgaggtgaggtagtagt	14	7	2	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.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	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		Somatic				C12orf60_ENST00000527783.1_Intron	p.I167V	NM_021071.2	NP_066549.2	WXS	Illumina GAIIx	Phase_I	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	29	56	---	---	---	---	C	14993733	T	C	14993733	3	2	290	1	0	0	0	0	1	0	0	0	999	1493	52	2	453	2	ART4	12	14993733	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	53404	14993733	118858162	18	10747										
OR10P1	121130	broad.mit.edu	37	chr12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ggcaagtgctgggaagcacaGgagcgagatctccgtgatga	16	8	1	3	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		Somatic					p.R195K	NM_206899.1	NP_996782.1	WXS	Illumina GAIIx	Phase_I	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	28	60	---	---	---	---	A	56031259	G	A	56031259	3	1	290	1	0	0	0	0	1	0	0	0	10915	1000	35	2	586	2	OR10P1	12	56031259	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	41037526	56031259	77820636	19	10748										
HAUS4	54930	broad.mit.edu	37	chr14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	cttctgctggctcttggcatCctggcactgctgctgctcac	10	15	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.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|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		Somatic				RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA	p.D215Y			WXS	Illumina GAIIx	Phase_I	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	27	38	---	---	---	---	A	23417142	C	A	23417142	3	1	290	1	0	0	0	0	1	0	0	0	6968	855	30	3	464	3	HAUS4	14	23417142	Missense_Mutation	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		23417142	83932398	20	10749										
SLC28A2	9153	broad.mit.edu	37	chr15	45555257	45555257	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	actctgcttcttctctttttAgcctatgctgcctatctcct	4	14	4	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.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_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			Somatic				CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA		NM_004212.3	NP_004203.2	WXS	Illumina GAIIx	Phase_I	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	13	52	---	---	---	---	T	45555257	A	T	45555257	5	4	290	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	21	10750										
CNOT1	23019	broad.mit.edu	37	chr16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	acttacatgctgtatttcctGctggctggctcggtaatttt	9	9	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.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000569240.1_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*		Somatic				CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*	p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	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	6	99	---	---	---	---	A	58633154	G	A	58633154	4	1	290	1	0	0	0	0	0	1	0	0	3617	1328	46	2	7456	2	CNOT1	16	58633154	Nonsense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		58633154	31721599	22	10751										
EXOC3L	283849	broad.mit.edu	37	chr16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	gccagacgggtctgtgttggGcccatgctcccggccccact	13	16	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.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_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		Somatic					p.P410S	NM_178516.3	NP_848611.2	WXS	Illumina GAIIx	Phase_I	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	36	51	---	---	---	---	A	67220718	G	A	67220718	3	1	290	1	0	0	0	0	1	0	0	0	5304	1203	42	2	1044	2	EXOC3L	16	67220718	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08	8587564	67220718	23134035	23	10752										
HPR	3250	broad.mit.edu	37	chr16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tggctatgtggagcacttgtTtcgctaccagtgtaagaact	11	8	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.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000228226.8_Missense_Mutation_p.F86S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S	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		Somatic				HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S	p.F49S	NM_020995.3	NP_066275.3	WXS	Illumina GAIIx	Phase_I	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	31	33	---	---	---	---	C	72108237	T	C	72108237	3	2	290	1	0	0	0	0	1	0	0	0	7337	1841	64	2	156	2	HPR	16	72108237	Missense_Mutation	SNP	T	TCGA-VP-A87B-01A-11D-A34U-08	4887519	72108237	18246516	24	10753										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	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.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_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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	69	93	---	---	---	---	C	47696426	A	C	47696426	3	2	290	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		47696426	33498784	25	10754										
LILRB5	10990	broad.mit.edu	37	chr19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	gtgggttctgtctcttccggGcccatgggagtccctcctta	12	13	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.chr19:54760504G>A	ENST00000316219.5	-	3	310	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000450632.1_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_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	10990				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		Somatic				LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V	p.A68V			WXS	Illumina GAIIx	Phase_I	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	39	156	---	---	---	---	A	54760504	G	A	54760504	3	1	290	1	0	0	0	0	1	0	0	0	8794	1203	42	2	1616	2	LILRB5	19	54760504	Missense_Mutation	SNP	G	TCGA-VP-A87B-01A-11D-A34U-08		54760504	4368479	26	10755										
ZDHHC9	51114	broad.mit.edu	37	chrX	128944944	128944944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.584325396825397	0	0.667800453514739	1	1	0	ggaggtcgacttccactttcCtccagtggcaaaatacccct	8	14	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.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			Somatic				ZDHHC9_ENST00000371064.3_Silent_p.E305E	p.E305E	NM_016032.3	NP_057116.2	WXS	Illumina GAIIx	Phase_I	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	10	4	---	---	---	---	T	128944944	C	T	128944944	2	4	290	1	0	0	0	0	0	0	0	1	17619	680	24	2		2	ZDHHC9	23	128944944	Silent	SNP	C	TCGA-VP-A87B-01A-11D-A34U-08		128944944	26325616	27	10756										
CD5L	922	broad.mit.edu	37	chr1	157804497	157804497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	atgcccagggccgtcagccaGcctgacaccctctgggactg	12	16	2	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.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		Somatic					p.L140M	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	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	10	43	---	---	---	---	T	157804497	G	T	157804497	3	4	291	1	0	0	0	0	1	0	0	0	3027	962	34	3	637	3	CD5L	1	157804497	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		157804497	91446124	1	10757										
SLC19A2	10560	broad.mit.edu	37	chr1	169438005	169438005	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	caatcaggagagaaaagagaGataatgtcatttctccccaa	8	8	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.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		Somatic				SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	p.S367F	NM_006996.2	NP_008927.1	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	A	169438005	G	A	169438005	3	1	291	1	0	0	0	0	1	0	0	0	14429	942	33	2	405	2	SLC19A2	1	169438005	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08	11633508	169438005	79812616	2	10758										
C2orf16	84226	broad.mit.edu	37	chr2	27802537	27802537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	cctggtaaagtcagagtcttCcctcagcatattttacgata	7	10	3	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.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		Somatic					p.S1033F	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	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	18	74	---	---	---	---	T	27802537	C	T	27802537	3	4	291	1	0	0	0	0	1	0	0	0	2157	855	30	2	3100	2	C2orf16	2	27802537	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08		27802537	215396836	3	10759										
SF3B1	23451	broad.mit.edu	37	chr2	198266711	198266711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	ggtaattggtggatttacctTtcctctgtgttggcggatac	12	7	1	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.chr2:198266711T>C	ENST00000335508.6	-	15	2312	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	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																																	ENST00000335508.6				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		Somatic					p.K741E	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2312	-								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	21	48	---	---	---	---	C	198266711	T	C	198266711	3	2	291	1	0	0	0	0	1	0	0	0	14149	1850	64	2	1737	2	SF3B1	2	198266711	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08	170464174	198266711	44932662	4	10760										
ADAMTS3	9508	broad.mit.edu	37	chr4	73186558	73186558	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	acattctccaagcttctggaTgggtttcccctttctatgag	8	11	3	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.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			Somatic					p.P325P	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	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	13	48	---	---	---	---	A	73186558	T	A	73186558	2	1	291	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	5	10761										
CCNI	10983	broad.mit.edu	37	chr4	77969728	77969728	+	Frame_Shift_Del	DEL	A	A	-													0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	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)tatfs		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		Somatic				CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	p.Y260fs	NM_006835.2	NP_006826.1	WXS	Illumina GAIIx	Phase_I	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	291	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	6	10762										
LIFR	3977	broad.mit.edu	37	chr5	38482128	38482129	+	Frame_Shift_Ins	INS	-	-	A													0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	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)attgagfs		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		Somatic				LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	p.E955fs	NM_002310.5	NP_002301.1	WXS	Illumina GAIIx	Phase_I	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	291	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	7	10763										
SLC25A27	9481	broad.mit.edu	37	chr6	46637938	46637938	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	gtcatcaaaagcagaataatGaatcaaccacgagataaaca	6	8	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.chr6:46637938G>T	ENST00000371347.5	+	7	1023	c.771G>T	c.(769-771)atG>atT	p.M257I	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000411689.2_Intron	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		Somatic				SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000604908.1_3'UTR	p.M257I	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	WXS	Illumina GAIIx	Phase_I	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	4	58	---	---	---	---	T	46637938	G	T	46637938	3	4	291	1	0	0	0	0	1	0	0	0	14490	1290	45	3	797	3	SLC25A27	6	46637938	Missense_Mutation	SNP	G	TCGA-VP-A87C-01A-11D-A34U-08		46637938	124477129	8	10764										
GSTA2	2939	broad.mit.edu	37	chr6	52619834	52619834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	gcaccagcttcatcccatcaAtctcaaccattggcacttgc	5	16	3	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.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		Somatic					p.I60T	NM_000846.4	NP_000837.3	WXS	Illumina GAIIx	Phase_I	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	10	182	---	---	---	---	G	52619834	A	G	52619834	3	3	291	1	0	0	0	0	1	0	0	0	6831	101	4	2	505	2	GSTA2	6	52619834	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08	5981896	52619834	118495233	9	10765										
PLOD3	8985	broad.mit.edu	37	chr7	100859736	100859736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	cctcccggtcagcgtatttcTccatttccttctttaaccac	4	16	3	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.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		Somatic					p.E98G	NM_001084.4	NP_001075.1	WXS	Illumina GAIIx	Phase_I	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	11	38	---	---	---	---	C	100859736	T	C	100859736	3	2	291	1	0	0	0	0	1	0	0	0	12103	1551	54	2	1991	2	PLOD3	7	100859736	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		100859736	58278927	10	10766										
OR56A3	390083	broad.mit.edu	37	chr11	5969418	5969418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	tgatgtgccagtcttgctcaAtgttctccaccatgtcattc	7	12	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.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		Somatic					p.N281S	NM_001003443.2	NP_001003443.2	WXS	Illumina GAIIx	Phase_I	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	27	93	---	---	---	---	G	5969418	A	G	5969418	3	3	291	1	0	0	0	0	1	0	0	0	11134	101	4	2	844	2	OR56A3	11	5969418	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08		5969418	129037098	11	10767										
ARNTL2	56938	broad.mit.edu	37	chr12	27553667	27553667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	aaccaactgaatttataaccCggtttgcagtgaatggaaaa	8	7	0	2	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	ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R340G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G			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		Somatic				ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G	p.R340G	NM_020183.4	NP_064568.3	WXS	Illumina GAIIx	Phase_I	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	15	62	---	---	---	---	G	27553667	C	G	27553667	3	3	291	1	0	0	0	0	1	0	0	0	968	643	23	4	1158	4	ARNTL2	12	27553667	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08		27553667	106298228	12	10768										
KTN1	3895	broad.mit.edu	37	chr14	56079014	56079014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	ctctgagagtgtacctcgagActttaaattatcagatgctt	8	8	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.chr14:56079014A>G	ENST00000395314.3	+	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000416613.1_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_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	3895				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		Somatic				KTN1_ENST00000395314.3_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G	p.D83G			WXS	Illumina GAIIx	Phase_I	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	14	53	---	---	---	---	G	56079014	A	G	56079014	3	3	291	1	0	0	0	0	1	0	0	0	8585	275	10	2	250	2	KTN1	14	56079014	Missense_Mutation	SNP	A	TCGA-VP-A87C-01A-11D-A34U-08		56079014	51270526	13	10769										
TELO2	9894	broad.mit.edu	37	chr16	1556991	1556991	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	cctcttgggagaagaccagcTggttctcggaaggctggcgc	15	11	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		Somatic					p.L722P	NM_016111.3	NP_057195.2	WXS	Illumina GAIIx	Phase_I	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	4	9	---	---	---	---	C	1556991	T	C	1556991	3	2	291	1	0	0	0	0	1	0	0	0	15754	1580	55	2	2231	2	TELO2	16	1556991	Missense_Mutation	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		1556991	88797762	14	10770										
GPR142	350383	broad.mit.edu	37	chr17	72363725	72363725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	gacatcactgctgtcctgggTacagaagcatatactgagga	11	9	1	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.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			Somatic					p.G27G	NM_181790.1	NP_861455.1	WXS	Illumina GAIIx	Phase_I	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	12	40	---	---	---	---	C	72363725	T	C	72363725	2	2	291	1	0	0	0	0	0	0	0	1	6650	1625	57	2		2	GPR142	17	72363725	Silent	SNP	T	TCGA-VP-A87C-01A-11D-A34U-08		72363725	8831485	15	10771										
ICT1	3396	broad.mit.edu	37	chr17	73016712	73016712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	ctgaggccagccagacaccgAaggagccaacaaaagaagat	11	11	0	4			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		Somatic					p.K166Q	NM_001545.1	NP_001536.1	WXS	Illumina GAIIx	Phase_I	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	3	56	---	---	---	---	C	73016712	A	C	73016712	3	2	291	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	16	10772										
ILF3	3609	broad.mit.edu	37	chr19	10781285	10781286	+	Splice_Site	INS	-	-	T													0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	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_ENST00000318511.3_Splice_Site|ILF3_ENST00000449870.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000407004.3_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			Somatic				ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site		NM_017620.2	NP_060090.2	WXS	Illumina GAIIx	Phase_I	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	291	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	17	10773										
HOOK2	29911	broad.mit.edu	37	chr19	12875684	12875684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	ctccatggcccgcaagtccgCgtccttcttctgcaagttat	8	15	2	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.chr19:12875684C>T	ENST00000397668.3	-	20	1844	c.1771G>A	c.(1771-1773)Gcg>Acg	p.A591T	HOOK2_ENST00000264827.5_Missense_Mutation_p.A589T|HOOK2_ENST00000589965.1_5'Flank	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	7	104	---	---	---	---	T	12875684	C	T	12875684	3	4	291	1	0	0	0	0	1	0	0	0	7283	768	27	2	404	2	HOOK2	19	12875684	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	2094399	12875684	46253299	18	10774										
ZNF155	7711	broad.mit.edu	37	chr19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	1.11034482758621	0	1.85057471264368	1	1	0	tggtcttcactgaggaggagCtggggctgctggaccctgcc	16	11	2	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		Somatic				ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	p.L22V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	WXS	Illumina GAIIx	Phase_I	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	5	178	---	---	---	---	G	44495748	C	G	44495748	3	3	291	1	0	0	0	0	1	0	0	0	17733	796	28	4	70	4	ZNF155	19	44495748	Missense_Mutation	SNP	C	TCGA-VP-A87C-01A-11D-A34U-08	31620064	44495748	14633235	19	10775										
DPH2	1802	broad.mit.edu	37	chr1	44435899	44435899	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	cggcgctgcagcgagagaccGgggtgccaggactgcttact	16	12	0	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_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000412950.2_5'UTR	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	6	59	---	---	---	---	C	44435899	G	C	44435899	3	2	292	1	0	0	0	0	1	0	0	0	4720	1116	39	4	54	4	DPH2	1	44435899	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		44435899	204814722	1	10776										
COL11A1	1301	broad.mit.edu	37	chr1	103488491	103488491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tatcctcagaatttttcctcTgggaatcataatcctctccc	4	13	4	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.chr1:103488491T>C	ENST00000370096.3	-	8	1364	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q363R|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	55	---	---	---	---	C	103488491	T	C	103488491	3	2	292	1	0	0	0	0	1	0	0	0	3667	1580	55	2	4608	2	COL11A1	1	103488491	Missense_Mutation	SNP	T	TCGA-VP-A87D-01A-11D-A34U-08	59052592	103488491	145762130	2	10777										
BCAN	63827	broad.mit.edu	37	chr1	156618650	156618650	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gcttcaacgtctactgcttcCgaggtgagcccacctccctg	9	16	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.chr1:156618650C>T	ENST00000329117.5	+	6	1396	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*|RP11-284F21.7_ENST00000448869.1_RNA	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																																						ENST00000329117.5																			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*		Somatic				RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*	p.R354*	NM_021948.4	NP_068767.3	WXS	Illumina GAIIx	Phase_I	Q96GW7	PGCB_HUMAN			6	1396	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					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	9	74	---	---	---	---	T	156618650	C	T	156618650	4	4	292	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	53130159	156618650	92631971	3	10778										
SLC9A11	284525	broad.mit.edu	37	chr1	173495815	173495815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tacctacctaattctttgacAgcatcctgtttgttggtttc	6	10	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.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			Somatic				SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	p.A784A	NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	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	10	62	---	---	---	---	G	173495815	A	G	173495815	2	3	292	1	0	0	0	0	0	0	0	1	14711	175	7	2		2	SLC9A11	1	173495815	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	16877165	173495815	75754806	4	10779										
XPR1	9213	broad.mit.edu	37	chr1	180833005	180833005	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gggaagagattgtataccccCaaaaagtatgtataaagagt	10	5	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.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		Somatic				XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	p.Q555K	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	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	4	82	---	---	---	---	A	180833005	C	A	180833005	3	1	292	1	0	0	0	0	1	0	0	0	17448	595	21	1	1709	1	XPR1	1	180833005	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	7337190	180833005	68417616	5	10780										
C4BPA	722	broad.mit.edu	37	chr1	207317225	207317225	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tggataaggatcagtatgttGagcctgaaaatgtcaccatc	10	7	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.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		Somatic					p.E503K	NM_000715.3	NP_000706.1	WXS	Illumina GAIIx	Phase_I	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	4	53	---	---	---	---	A	207317225	G	A	207317225	3	1	292	1	0	0	0	0	1	0	0	0	2249	1291	45	2	1545	2	C4BPA	1	207317225	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	26484220	207317225	41933396	6	10781										
TTC30A	92104	broad.mit.edu	37	chr2	178481831	178481831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	attttccgatttgggtcatcAtaagagagctgctcttcctc	8	10	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.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																																						ENST00000355689.5																			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			Somatic				AC073834.3_ENST00000357045.4_RNA	p.Y533Y	NM_152275.3	NP_689488.3	WXS	Illumina GAIIx	Phase_I	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1863	-								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	101	172	---	---	---	---	G	178481831	A	G	178481831	2	3	292	1	0	0	0	0	0	0	0	1	16695	224	8	2		2	TTC30A	2	178481831	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08		178481831	64717542	7	10782										
SENP7	57337	broad.mit.edu	37	chr3	101086791	101086800	+	Frame_Shift_Del	DEL	TTTAACATCC	TTTAACATCC	-													0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	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_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs	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)aaggatgttaaafs		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		Somatic				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|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs	p.KDVK284fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	WXS	Illumina GAIIx	Phase_I	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	292	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		101086791	96935639	8	10783										
MYLK	4638	broad.mit.edu	37	chr3	123452701	123452701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	caggctgcctggtggggaagGtggctggacggggaggagct	22	7	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.chr3:123452701G>A	ENST00000475616.1	-	7	1141	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360772.3_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_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		Somatic				MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I	p.T381I			WXS	Illumina GAIIx	Phase_I	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	5	74	---	---	---	---	A	123452701	G	A	123452701	3	1	292	1	0	0	0	0	1	0	0	0	10056	1261	44	2	4702	2	MYLK	3	123452701	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	22365910	123452701	74569729	9	10784										
EPHB1	2047	broad.mit.edu	37	chr3	134885817	134885817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	agcaaagaggctgtgtacagCgataagctccagcattacag	11	9	0	1	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			Somatic				EPHB1_ENST00000493838.1_Silent_p.S137S	p.S576S	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	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	7	178	---	---	---	---	T	134885817	C	T	134885817	2	4	292	1	0	0	0	0	0	0	0	1	5174	767	27	2		2	EPHB1	3	134885817	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	11433116	134885817	63136613	10	10785										
PPEF2	5470	broad.mit.edu	37	chr4	76811139	76811139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tctgaatgcttctaccagggCagttgcatggtcaggcagga	13	9	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.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		Somatic					p.A130S	NM_006239.2	NP_006230.2	WXS	Illumina GAIIx	Phase_I	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	7	120	---	---	---	---	A	76811139	C	A	76811139	3	1	292	1	0	0	0	0	1	0	0	0	12308	710	25	3	1925	3	PPEF2	4	76811139	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		76811139	114343137	11	10786										
PCDHA12	56137	broad.mit.edu	37	chr5	140256502	140256502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	cacggtgtcggcatgggacgCggacgcgcagaagaacgcgc	17	12	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.chr5:140256502C>T	ENST00000398631.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_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	56137							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		Somatic				PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.A482V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			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	5	98	---	---	---	---	T	140256502	C	T	140256502	3	4	292	1	0	0	0	0	1	0	0	0	11522	768	27	2	1447	2	PCDHA12	5	140256502	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		140256502	40658758	12	10787										
HDAC3	8841	broad.mit.edu	37	chr5	141005788	141005788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gggcaacatttcggacagtaTaaccaccaccacccagcacg	8	15	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.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		Somatic				AC008781.7_ENST00000422040.2_RNA	p.Y298S	NM_003883.3	NP_003874.2	WXS	Illumina GAIIx	Phase_I	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	15	24	---	---	---	---	G	141005788	T	G	141005788	3	3	292	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	13	10788										
KIF13A	63971	broad.mit.edu	37	chr6	17779890	17779890	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	atatatttttcagggatattCtcctcttcaaactctgcgtg	6	9	5	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.chr6:17779890C>T	ENST00000259711.6	-	32	3977	c.3872G>A	c.(3871-3873)aGa>aAa	p.R1291K	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1278K	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		Somatic				KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K	p.R1278K	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	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	13	30	---	---	---	---	T	17779890	C	T	17779890	3	4	292	1	0	0	0	0	1	0	0	0	8274	913	32	2	1602	2	KIF13A	6	17779890	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		17779890	153335177	14	10789										
HIST1H4A	8359	broad.mit.edu	37	chr6	26022184	26022184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	cgtggtctacgcgcttaagcGccagggacgcaccctttatg	12	13	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.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		Somatic					p.R93L	NM_003538.3	NP_003529.1	WXS	Illumina GAIIx	Phase_I	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	5	71	---	---	---	---	T	26022184	G	T	26022184	3	4	292	1	0	0	0	0	1	0	0	0	7165	1087	38	3	280	3	HIST1H4A	6	26022184	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	8242294	26022184	145092883	15	10790										
UTRN	7402	broad.mit.edu	37	chr6	145157535	145157535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gattatatctccccatcacaCgtctgaggattcagaactta	6	11	4	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.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		Somatic				UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	p.T3308M	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	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	13	153	---	---	---	---	T	145157535	C	T	145157535	3	4	292	1	0	0	0	0	1	0	0	0	17100	536	19	2	10201	2	UTRN	6	145157535	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	119135351	145157535	25957532	16	10791										
TIAM2	26230	broad.mit.edu	37	chr6	155500568	155500568	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tatgacgtgcagctcacgaaGactgggagtgtgtgtgactt	14	7	1	3	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_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000360366.4_Silent_p.K919K			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			Somatic				TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K	p.K895K			WXS	Illumina GAIIx	Phase_I	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	34	79	---	---	---	---	A	155500568	G	A	155500568	2	1	292	1	0	0	0	0	0	0	0	1	15888	933	33	2		2	TIAM2	6	155500568	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	10343033	155500568	15614499	17	10792										
ELN	2006	broad.mit.edu	37	chr7	73456962	73456962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	agggctcggcgccttccccgCagttacctttccgggggctc	13	16	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.chr7:73456962C>A	ENST00000252034.7	+	6	650	c.251C>A	c.(250-252)gCa>gAa	p.A84E	ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|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	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		Somatic				ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E	p.A84E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	WXS	Illumina GAIIx	Phase_I	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	10	52	---	---	---	---	A	73456962	C	A	73456962	3	1	292	1	0	0	0	0	1	0	0	0	5071	710	25	3	273	3	ELN	7	73456962	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		73456962	85681701	18	10793										
OR5M8	219484	broad.mit.edu	37	chr11	56257968	56257968	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	aatgcttcttttacatttttAtttctaaggctataaattat	3	5	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.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		Somatic					p.N293K	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	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	17	30	---	---	---	---	C	56257968	A	C	56257968	3	2	292	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	19	10794										
OR5M8	219484	broad.mit.edu	37	chr11	56258436	56258436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	atgaggaaggagcacacactCttggacattctgctgccata	10	10	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.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		Somatic					p.K137N	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	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	21	34	---	---	---	---	A	56258436	C	A	56258436	3	1	292	1	0	0	0	0	1	0	0	0	11176	912	32	3	528	3	OR5M8	11	56258436	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	468	56258436	78748080	20	10795										
SLC12A6	9990	broad.mit.edu	37	chr15	34528968	34528968	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gagcatctgggacctttgttCcatcatcaaagtgcgctcgt	10	11	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.chr15:34528968C>A	ENST00000354181.3	-	23	3475	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*			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*		Somatic				SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*	p.E995*			WXS	Illumina GAIIx	Phase_I	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	13	71	---	---	---	---	A	34528968	C	A	34528968	4	1	292	1	0	0	0	0	0	1	0	0	14387	864	30	3	485	3	SLC12A6	15	34528968	Nonsense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		34528968	68002424	21	10796										
BNC1	646	broad.mit.edu	37	chr15	83935780	83935780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	ttggactggacaatctccacCtggcttgttggatacatggg	12	9	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.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			Somatic				BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA	p.Q81Q	NM_001717.3	NP_001708.3	WXS	Illumina GAIIx	Phase_I	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	5	41	---	---	---	---	T	83935780	C	T	83935780	2	4	292	1	0	0	0	0	0	0	0	1	1474	680	24	2		2	BNC1	15	83935780	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	49406812	83935780	18595612	22	10797										
NUPR1	26471	broad.mit.edu	37	chr16	28549403	28549403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	ttggtcaccagtttcctctcGtgcccgccagggctggggcg	14	14	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.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			Somatic				NUPR1_ENST00000395641.2_Silent_p.H80H	p.H62H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	WXS	Illumina GAIIx	Phase_I	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	49	73	---	---	---	---	A	28549403	G	A	28549403	2	1	292	1	0	0	0	0	0	0	0	1	10776	1136	40	2		2	NUPR1	16	28549403	Silent	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		28549403	61805350	23	10798										
TMEM199	147007	broad.mit.edu	37	chr17	26687568	26687568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	ccaggatacaagacatggtgGgactctcagcgacctgggaa	13	10	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.chr17:26687568G>A	ENST00000292114.3	+	4	482	c.392G>A	c.(391-393)gGg>gAg	p.G131E	TMEM199_ENST00000395404.3_5'UTR|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|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		Somatic				TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR	p.G131E	NM_152464.1	NP_689677.1	WXS	Illumina GAIIx	Phase_I	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	7	26	---	---	---	---	A	26687568	G	A	26687568	3	1	292	1	0	0	0	0	1	0	0	0	16117	1232	43	2	406	2	TMEM199	17	26687568	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		26687568	54507642	24	10799										
CPD	1362	broad.mit.edu	37	chr17	28748781	28748781	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gtattaatcataatatcacaAcaggcagatttggtgatttc	7	6	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.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		Somatic				CPD_ENST00000543464.2_Missense_Mutation_p.T166P	p.T413P	NM_001304.4	NP_001295.2	WXS	Illumina GAIIx	Phase_I	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	41	63	---	---	---	---	C	28748781	A	C	28748781	3	2	292	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	25	10800										
MYO1D	4642	broad.mit.edu	37	chr17	31099824	31099824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	aacctgatagaaagaatgaaAgcttctttctcctggctgtt	8	8	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.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		Somatic				MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	p.F201V	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	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	5	207	---	---	---	---	C	31099824	A	C	31099824	3	2	292	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	26	10801										
KIAA0802	23255	broad.mit.edu	37	chr18	8793060	8793060	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	ggagctacagggtcagctcgTgcaggcggccagactgcatc	15	12	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_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_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		Somatic				SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	p.V651E	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	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	39	83	---	---	---	---	A	8793060	T	A	8793060	3	1	292	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	27	10802										
HDGFRP2	84717	broad.mit.edu	37	chr19	4491627	4491627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tcaggccagcgtgtccccatCcgaagaggagaactcggaaa	12	12	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.chr19:4491627C>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	84717				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		Somatic				HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	WXS	Illumina GAIIx	Phase_I	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	9	52	---	---	---	---	T	4491627	C	T	4491627	3	4	292	1	0	0	0	0	1	0	0	0	7020	855	30	2	572	2	HDGFRP2	19	4491627	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		4491627	54637356	28	10803										
C3	718	broad.mit.edu	37	chr19	6707507	6707507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tcgcttctccgtgagctgcaCggaacggcgtcggcgggcgg	17	13	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		Somatic					p.V673M	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	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	5	64	---	---	---	---	T	6707507	C	T	6707507	3	4	292	1	0	0	0	0	1	0	0	0	2204	536	19	2	3078	2	C3	19	6707507	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	2215880	6707507	52421476	29	10804										
ADAMTS10	81794	broad.mit.edu	37	chr19	8654353	8654353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	caccttgcattcgccactgaCgcaaatgtccaccgtgtctg	8	15	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.chr19:8654353C>T	ENST00000597188.1	-	17	2287	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	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		Somatic				ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	p.V673I			WXS	Illumina GAIIx	Phase_I	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	6	67	---	---	---	---	T	8654353	C	T	8654353	3	4	292	1	0	0	0	0	1	0	0	0	256	536	19	2	1334	2	ADAMTS10	19	8654353	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	1946846	8654353	50474630	30	10805										
CD22	933	broad.mit.edu	37	chr19	35831815	35831815	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	aaggtgaccacagtgattcaAaaccccatgccgattcgaga	9	11	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.chr19:35831815A>G	ENST00000085219.5	+	7	1347	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q	CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000341773.6_Silent_p.Q250Q|CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q	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			Somatic				CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q	p.Q427Q	NM_001771.3	NP_001762.2	WXS	Illumina GAIIx	Phase_I	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	3	83	---	---	---	---	G	35831815	A	G	35831815	2	3	292	1	0	0	0	0	0	0	0	1	2985	11	1	2		2	CD22	19	35831815	Silent	SNP	A	TCGA-VP-A87D-01A-11D-A34U-08	27177462	35831815	23297168	31	10806										
PSG7	5676	broad.mit.edu	37	chr19	43430713	43430713	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gaggatcctgttttcaatgcGtcgctttaccctgggactga	11	10	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.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			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	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	109	226	---	---	---	---	A	43430713	G	A	43430713	1	1	292	0	1	0	0	0	0	0	0	0	12660	1145	40	2		2	PSG7	19	43430713	RNA	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	7598898	43430713	15698270	32	10807										
PVRL2	5819	broad.mit.edu	37	chr19	45381839	45381839	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	atgacatggagtcccagctgGacggctccctcatctcacgg	11	14	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.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			Somatic				PVRL2_ENST00000252483.5_Intron	p.D468N	NM_002856.2	NP_002847.1	WXS	Illumina GAIIx	Phase_I	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	3	34	---	---	---	---	A	45381839	G	A	45381839	1	1	292	0	1	0	0	0	0	0	0	0	12840	1174	41	2		2	PVRL2	19	45381839	Intron	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08	1951126	45381839	13747144	33	10808										
ZNF256	10172	broad.mit.edu	37	chr19	58453386	58453386	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tccacatgtataaggcttttCtgaagtgtgaactctcaaat	7	8	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.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		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.E264K	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	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	67	360	---	---	---	---	T	58453386	C	T	58453386	3	4	292	1	0	0	0	0	1	0	0	0	17796	922	32	2	1097	2	ZNF256	19	58453386	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08	13071547	58453386	675597	34	10809										
C20orf117	140710	broad.mit.edu	37	chr20	35425294	35425294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	catgcaagcacctctttaaaCcatttcctccaagctcaact	3	15	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.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		Somatic				SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A	p.G1158A	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	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	11	43	---	---	---	---	G	35425294	C	G	35425294	3	3	292	1	0	0	0	0	1	0	0	0	2083	507	18	4	1586	4	C20orf117	20	35425294	Missense_Mutation	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		35425294	27600226	35	10810										
RBM11	54033	broad.mit.edu	37	chr21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	gaccaattaacgtgcagtatCgatttggtaggtcctgtcac	10	9	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.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*		Somatic				RBM11_ENST00000468643.1_3'UTR	p.R85*	NM_144770.3	NP_658983.3	WXS	Illumina GAIIx	Phase_I	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	3	13	---	---	---	---	T	15592040	C	T	15592040	4	4	292	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	36	10811										
SEZ6L	23544	broad.mit.edu	37	chr22	26707841	26707841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	tggagttcacctgcgaccccGgccactccctggagcagggc	13	16	1	0	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_ENST00000529632.2_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C			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		Somatic				SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C	p.G597C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	WXS	Illumina GAIIx	Phase_I	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	4	187	---	---	---	---	T	26707841	G	T	26707841	3	4	292	1	0	0	0	0	1	0	0	0	14143	1116	39	1	1819	1	SEZ6L	22	26707841	Missense_Mutation	SNP	G	TCGA-VP-A87D-01A-11D-A34U-08		26707841	24596725	37	10812										
FAM47C	442444	broad.mit.edu	37	chrX	37028160	37028160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.105263157894737	4	1	1.5734126984127	0	1.7390350877193	0.0476190476190476	1	0	actggagtgtcccatctccgCccagagcctcccaagactcg	9	17	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.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			Somatic					p.R559R	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	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	36	12	---	---	---	---	T	37028160	C	T	37028160	2	4	292	1	0	0	0	0	0	0	0	1	5571	726	26	2		2	FAM47C	23	37028160	Silent	SNP	C	TCGA-VP-A87D-01A-11D-A34U-08		37028160	118242400	38	10813										
HHAT	55733	broad.mit.edu	37	chr1	210577932	210577932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	gctgcctgctgcatcgacctCctactcctttccctggatgc	8	17	0	0			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_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F	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		Somatic				HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F	p.S198F	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	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	16	92	---	---	---	---	T	210577932	C	T	210577932	3	4	293	1	0	0	0	0	1	0	0	0	7089	855	30	2	709	2	HHAT	1	210577932	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		210577932	38672689	1	10814										
NEB	4703	broad.mit.edu	37	chr2	152359340	152359340	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tcttgattgcgtttgactctCtccatctctggagtgatagg	10	9	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.chr2:152359340C>T	ENST00000172853.10	-	139	18939	c.18792G>A	c.(18790-18792)gaG>gaA	p.E6264E	NEB_ENST00000509223.2_Intron|NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000397345.3_Silent_p.E7965E|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000498015.2_Intron			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																																						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.(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			Somatic				NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000172853.10_Silent_p.E6264E|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000509223.2_Intron	p.E7965E	NM_001164508.1	NP_001157980	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---	T	152359340	C	T	152359340	2	4	293	1	0	0	0	0	0	0	0	1	10302	912	32	2		2	NEB	2	152359340	Silent	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		152359340	90840033	2	10815										
LGSN	51557	broad.mit.edu	37	chr6	63990019	63990019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	gcaacaaaatatcgaataaaGgtttctcctagagcctgtct	7	9	2	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.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			Somatic				LGSN_ENST00000370658.5_3'UTR	p.T479T			WXS	Illumina GAIIx	Phase_I	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	5	110	---	---	---	---	A	63990019	G	A	63990019	2	1	293	1	0	0	0	0	0	0	0	1	8759	987	35	2		2	LGSN	6	63990019	Silent	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		63990019	107125048	3	10816										
GPNMB	10457	broad.mit.edu	37	chr7	23286530	23286530	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	ctcctggctgcaagattgccActtgatgccgccaaacgtga	10	13	0	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.chr7:23286530A>C	ENST00000381990.2	+	1	215	c.54A>C	c.(52-54)ccA>ccC	p.P18P	GPNMB_ENST00000258733.4_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000409458.3_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			Somatic				GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000381990.2_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000409458.3_Silent_p.P18P	p.P18P			WXS	Illumina GAIIx	Phase_I	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	4	90	---	---	---	---	C	23286530	A	C	23286530	2	2	293	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	4	10817										
PPP1R9A	55607	broad.mit.edu	37	chr7	94898588	94898588	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	ctaagggtttgagaacgtctTctccagaatcagattctggt	10	8	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.chr7:94898588T>C	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S925P|PPP1R9A_ENST00000340694.4_Intron			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)	Somatic				PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P	p.S925P	NM_001166161.1	NP_001159633.1	WXS	Illumina GAIIx	Phase_I	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	6	34	---	---	---	---	C	94898588	T	C	94898588	1	2	293	0	1	0	0	0	0	0	0	0	12378	1783	62	2		2	PPP1R9A	7	94898588	Intron	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	71612058	94898588	64240075	5	10818										
MATN2	4147	broad.mit.edu	37	chr8	99030231	99030231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	cctgtcttcagggaaagatgTctgccaagctatagaccatg	10	10	3	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.chr8:99030231T>G	ENST00000520016.1	+	11	1830	c.1706T>G	c.(1705-1707)gTc>gGc	p.V569G	MATN2_ENST00000521689.1_Missense_Mutation_p.V569G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000254898.5_Missense_Mutation_p.V569G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G			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		Somatic				MATN2_ENST00000520016.1_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	p.V569G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	WXS	Illumina GAIIx	Phase_I	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	9	251	---	---	---	---	G	99030231	T	G	99030231	3	3	293	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	6	10819										
OR2S2	56656	broad.mit.edu	37	chr9	35957215	35957215	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tcctcaggctatagatgatgGggttgagcatcggggtcacc	14	9	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		Somatic					p.P294R	NM_019897.2	NP_063950.2	WXS	Illumina GAIIx	Phase_I	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	4	115	---	---	---	---	C	35957215	G	C	35957215	3	2	293	1	0	0	0	0	1	0	0	0	11015	1232	43	4	82	4	OR2S2	9	35957215	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		35957215	105256216	7	10820										
ITGA8	8516	broad.mit.edu	37	chr10	15655705	15655705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	aacctggcaagttttattttCaagattgataatcattgggt	8	5	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.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		Somatic					p.E503K	NM_003638.1	NP_003629	WXS	Illumina GAIIx	Phase_I	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	5	129	---	---	---	---	T	15655705	C	T	15655705	3	4	293	1	0	0	0	0	1	0	0	0	7882	835	29	2	1748	2	ITGA8	10	15655705	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		15655705	119879042	8	10821										
ANKRD26	22852	broad.mit.edu	37	chr10	27324083	27324083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	actgtgtttggcttaggtccTtttgtacccgttctaaaccc	8	11	1	0			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_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R	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		Somatic				ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R	p.K1099R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	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	4	181	---	---	---	---	C	27324083	T	C	27324083	3	2	293	1	0	0	0	0	1	0	0	0	654	1609	56	2	1880	2	ANKRD26	10	27324083	Missense_Mutation	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	11668378	27324083	108210664	9	10822										
FAM13C	220965	broad.mit.edu	37	chr10	61083780	61083780	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	cgcactgtttcttggcacttGaaggcattgttttgtggact	11	8	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.chr10:61083780G>T	ENST00000373868.2	-	4	498	c.411C>A	c.(409-411)ttC>ttA	p.F137L	FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000373867.3_Missense_Mutation_p.F54L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_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		Somatic				FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000373868.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L	p.F54L	NM_001166698.1	NP_001160170.1	WXS	Illumina GAIIx	Phase_I	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	7	193	---	---	---	---	T	61083780	G	T	61083780	3	4	293	1	0	0	0	0	1	0	0	0	5454	1281	45	3	1390	3	FAM13C	10	61083780	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	33759697	61083780	74450967	10	10823										
STOX1	219736	broad.mit.edu	37	chr10	70645938	70645938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	ttgagtctcaggtgcttaaaAgaaatgaatgctacaaaccc	8	8	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.chr10:70645938A>G	ENST00000298596.6	+	3	2469	c.2386A>G	c.(2386-2388)Aga>Gga	p.R796G	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686G	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		Somatic				STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	p.R796G	NM_152709.4	NP_689922.3	WXS	Illumina GAIIx	Phase_I	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	4	68	---	---	---	---	G	70645938	A	G	70645938	3	3	293	1	0	0	0	0	1	0	0	0	15318	64	3	2	2396	2	STOX1	10	70645938	Missense_Mutation	SNP	A	TCGA-VP-A87E-01A-31D-A34U-08	9562158	70645938	64888809	11	10824										
AKAP11	11215	broad.mit.edu	37	chr13	42875269	42875269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tctcccatatcatatttcatCtactgcatgtcaggccaagg	6	12	5	0			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		Somatic					p.S796Y	NM_016248.3	NP_057332.1	WXS	Illumina GAIIx	Phase_I	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	7	86	---	---	---	---	A	42875269	C	A	42875269	3	1	293	1	0	0	0	0	1	0	0	0	447	913	32	3	2409	3	AKAP11	13	42875269	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08		42875269	72294609	12	10825										
MLH3	27030	broad.mit.edu	37	chr14	75514215	75514215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	gtctataccaggggaaagagGgggatgtatcagataatatg	14	4	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.chr14:75514215G>A	ENST00000556740.1	-	1	2179	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.P715L|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L			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		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L	p.P715L	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	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	11	112	---	---	---	---	A	75514215	G	A	75514215	3	1	293	1	0	0	0	0	1	0	0	0	9618	1232	43	2	2265	2	MLH3	14	75514215	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		75514215	31835325	13	10826										
DLL4	54567	broad.mit.edu	37	chr15	41227101	41227101	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	atggtctctctccaggaccaGgaggatggctaccactgcct	11	13	2	0			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		Somatic					p.Q342H	NM_019074.3	NP_061947.1	WXS	Illumina GAIIx	Phase_I	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	4	100	---	---	---	---	C	41227101	G	C	41227101	3	2	293	1	0	0	0	0	1	0	0	0	4568	991	35	4	1056	4	DLL4	15	41227101	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		41227101	61304291	14	10827										
ZFHX3	463	broad.mit.edu	37	chr16	72845836	72845836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	gatctcctcagctgtttttgGtcgcttcgaagagaggggag	14	8	2	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.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		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T	p.P1211T	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	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	8	134	---	---	---	---	T	72845836	G	T	72845836	3	4	293	1	0	0	0	0	1	0	0	0	17631	1261	44	3	7500	3	ZFHX3	16	72845836	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		72845836	17508917	15	10828										
ZNF18	7566	broad.mit.edu	37	chr17	11881383	11881383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tataaggtttctctccagtgTgaaccctctgatgtctatta	7	9	3	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.chr17:11881383T>C	ENST00000322748.3	-	9	2145	c.1541A>G	c.(1540-1542)cAc>cGc	p.H514R	ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R	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		Somatic				ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R	p.H514R	NM_144680.2	NP_653281.2	WXS	Illumina GAIIx	Phase_I	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	7	96	---	---	---	---	C	11881383	T	C	11881383	3	2	293	1	0	0	0	0	1	0	0	0	17744	1696	59	2	112	2	ZNF18	17	11881383	Missense_Mutation	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08		11881383	69313827	16	10829										
AP2B1	163	broad.mit.edu	37	chr17	33977804	33977805	+	Missense_Mutation	DNP	GG	GG	AA													0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	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.chr17:33977804_33977805GG>AA	ENST00000262325.7	+	13	2345_2346	c.1792_1793GG>AA	c.(1792-1794)GGg>AAg	p.G598K	AP2B1_ENST00000312678.8_Missense_Mutation_p.G598K|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560K|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541K|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598K	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)		AATTCATCATGGGAGGTAAGAA	0.421																																						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|c.(1792-1794)gGg>gAg		adaptor-related protein complex 2, beta 1 subunit																																				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|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		Exception_encountered	17.37:g.33977804_33977805delinsAA	ENSP00000262325:p.Gly598Lys		Somatic				AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000545922.2_3'UTR	p.G598R|p.G598E	NM_001282.2	NP_001273.1	WXS	Illumina GAIIx	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2345|2346	+		Ovarian(249;0.17)	598			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1792G>A|c.1793G>A	CCDS32622.1																																																																																				0.421	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			5|4	86	4	86	---	---	---	---	AA	33977805	GG	AA	33977804	3	1	293	1	0	0	0	0	1	0	0	0	741	1348	47	2	1838	2	AP2B1	17	33977804	Missense_Mutation	DNP	GG	TCGA-VP-A87E-01A-31D-A34U-08	22096421	33977804	47217406	17	10830										
PTPRS	5802	broad.mit.edu	37	chr19	5210793	5210793	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tctccgccagcggcccctgtGtcgcgatgtaggccttctgc	12	16	2	0			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_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1754R|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R			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		Somatic				PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1753R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R	p.T1754R			WXS	Illumina GAIIx	Phase_I	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	3	33	---	---	---	---	C	5210793	G	C	5210793	3	2	293	1	0	0	0	0	1	0	0	0	12811	1377	48	4	608	4	PTPRS	19	5210793	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		5210793	53918190	18	10831										
CYP4F3	4051	broad.mit.edu	37	chr19	15757912	15757912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	acagcttcctgaagccctggCtgggtgagtatctgtaggtg	14	9	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.chr19:15757912C>A	ENST00000221307.8	+	4	441	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_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																																						ENST00000221307.8																			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		Somatic				CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M	p.L132M	NM_000896.2	NP_000887.2	WXS	Illumina GAIIx	Phase_I	Q08477	CP4F3_HUMAN			4	441	+								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	5	114	---	---	---	---	A	15757912	C	A	15757912	3	1	293	1	0	0	0	0	1	0	0	0	4190	796	28	3	404	3	CYP4F3	19	15757912	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	10547119	15757912	43371071	19	10832										
PLCB1	23236	broad.mit.edu	37	chr20	8862290	8862290	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	tgcaggtggagctggagcaaGaataccaagacaaattcaaa	11	7	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.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		Somatic				PLCB1_ENST00000378641.3_3'UTR	p.E1149Q	NM_015192.2	NP_056007.1	WXS	Illumina GAIIx	Phase_I	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	5	163	---	---	---	---	C	8862290	G	C	8862290	3	2	293	1	0	0	0	0	1	0	0	0	12027	943	33	4	3674	4	PLCB1	20	8862290	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		8862290	54163230	20	10833										
UBE2L3	7332	broad.mit.edu	37	chr22	21947210	21947210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	gtaacatccaggttgatgaaGctaatttattgacttggcaa	9	6	0	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.chr22:21947210G>C	ENST00000342192.4	+	2	286	c.88G>C	c.(88-90)Gct>Cct	p.A30P	UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P	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		Somatic				UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P	p.A30P	NM_003347.3	NP_003338.1	WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	C	21947210	G	C	21947210	3	2	293	1	0	0	0	0	1	0	0	0	16860	971	34	4	94	4	UBE2L3	22	21947210	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08		21947210	29357356	21	10834										
ARSD	414	broad.mit.edu	37	chrX	2838677	2838677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	catagccatgctgctgcaagAttcttgcaaaagtggtttcg	10	9	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.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		Somatic				ARSD_ENST00000217890.6_5'UTR	p.I135S	NM_001669.3	NP_001660.2	WXS	Illumina GAIIx	Phase_I	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	4	23	---	---	---	---	C	2838677	A	C	2838677	3	2	293	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	22	10835										
HDHD1A	8226	broad.mit.edu	37	chrX	7023871	7023871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	aaacaccactgaatacagccGttcagtatctgcaggaaaaa	7	10	2	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.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_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000498474.2_5'UTR|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		Somatic				HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W	p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	WXS	Illumina GAIIx	Phase_I	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	3	10	---	---	---	---	A	7023871	G	A	7023871	3	1	293	1	0	0	0	0	1	0	0	0	7022	1144	40	2	749	2	HDHD1A	23	7023871	Missense_Mutation	SNP	G	TCGA-VP-A87E-01A-31D-A34U-08	4185194	7023871	148246689	23	10836										
STAG2	10735	broad.mit.edu	37	chrX	123179076	123179076	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	aagaagttcaaatccagtttTtgtgaattcattggcgtgtt	9	5	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.chrX:123179076T>C	ENST00000371160.1	+	8	815	c.525T>C	c.(523-525)ttT>ttC	p.F175F	STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F|STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_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			Somatic				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_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F	p.F175F	NM_001282418.1	NP_001269347.1	WXS	Illumina GAIIx	Phase_I	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	18	157	---	---	---	---	C	123179076	T	C	123179076	2	2	293	1	0	0	0	0	0	0	0	1	15242	1838	64	2		2	STAG2	23	123179076	Silent	SNP	T	TCGA-VP-A87E-01A-31D-A34U-08	116155205	123179076	32091484	24	10837										
MAMLD1	10046	broad.mit.edu	37	chrX	149639452	149639452	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.12	3	1	1.4746835443038	0.983122362869198	1.9662447257384	1	1	0	cagcccaggagccacggagcCatttacttttggcaacacca	9	14	0	0			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_ENST00000426613.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|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		Somatic				MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R	p.P536R			WXS	Illumina GAIIx	Phase_I	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	13	32	---	---	---	---	G	149639452	C	G	149639452	3	3	293	1	0	0	0	0	1	0	0	0	9208	594	21	4	1617	4	MAMLD1	23	149639452	Missense_Mutation	SNP	C	TCGA-VP-A87E-01A-31D-A34U-08	26460376	149639452	5631108	25	10838										
MACF1	23499	broad.mit.edu	37	chr1	39798764	39798764	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	cctctaagaaacacttccttTacatgtcagaatgaacaagc	5	11	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.chr1:39798764T>C	ENST00000372915.3	+	36	6606	c.6519T>C	c.(6517-6519)ttT>ttC	p.F2173F	MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Silent_p.F2168F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.F608F			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			Somatic				MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron	p.F2168F			WXS	Illumina GAIIx	Phase_I	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	15	38	---	---	---	---	C	39798764	T	C	39798764	2	2	294	1	0	0	0	0	0	0	0	1	9144	1751	61	2		2	MACF1	1	39798764	Silent	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08		39798764	209451857	1	10839										
COBLL1	22837	broad.mit.edu	37	chr2	165551962	165551962	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	aggtatttacagaatcttgtGaacttaagcatgagtgttga	10	4	1	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.chr2:165551962G>A	ENST00000392717.2	-	13	2172	c.2168C>T	c.(2167-2169)tCa>tTa	p.S723L	COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000375458.2_Missense_Mutation_p.S647L			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		Somatic				COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L	p.S647L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina GAIIx	Phase_I	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	31	81	---	---	---	---	A	165551962	G	A	165551962	3	1	294	1	0	0	0	0	1	0	0	0	3654	1294	45	2	1458	2	COBLL1	2	165551962	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		165551962	77647411	2	10840										
CYP27A1	1593	broad.mit.edu	37	chr2	219677083	219677083	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	ctggaccagctgcgggcagaGagtgcttcggggaaccaggt	17	10	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.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			Somatic					p.E195E	NM_000784.3	NP_000775.1	WXS	Illumina GAIIx	Phase_I	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	21	97	---	---	---	---	A	219677083	G	A	219677083	2	1	294	1	0	0	0	0	0	0	0	1	4158	933	33	2		2	CYP27A1	2	219677083	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	54125121	219677083	23522290	3	10841										
CTNNB1	1499	broad.mit.edu	37	chr3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	gcaacagtcttacctggactCtggaatccattctggtgcca	9	12	3	0	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_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y|CTNNB1_ENST00000396183.3_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		Somatic				CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y	p.S33Y	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	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	9	39	---	---	---	---	A	41266101	C	A	41266101	3	1	294	1	0	0	0	0	1	0	0	0	4016	913	32	3	104	3	CTNNB1	3	41266101	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		41266101	156756329	4	10842										
TAGLN3	29114	broad.mit.edu	37	chr3	111719684	111719684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	cccatacccaagatctcagaGtcaaagatggcttttaagca	7	11	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.chr3:111719684G>C	ENST00000393917.2	+	3	798	c.246G>C	c.(244-246)gaG>gaC	p.E82D	TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_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		Somatic				TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D	p.E82D	NM_013259.2	NP_037391.2	WXS	Illumina GAIIx	Phase_I	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	4	243	---	---	---	---	C	111719684	G	C	111719684	3	2	294	1	0	0	0	0	1	0	0	0	15537	1020	36	4	252	4	TAGLN3	3	111719684	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	70453583	111719684	86302746	5	10843										
ZNF148	7707	broad.mit.edu	37	chr3	124997998	124997998	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	gaagacatgtctctgtaagtGatagttcgttctaaaggcag	11	6	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.chr3:124997998G>T	ENST00000360647.4	-	6	1038	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000468369.1_Intron	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		Somatic				ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	p.H185N	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	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	40	57	---	---	---	---	T	124997998	G	T	124997998	3	4	294	1	0	0	0	0	1	0	0	0	17731	1290	45	3	1847	3	ZNF148	3	124997998	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08	13278314	124997998	73024432	6	10844										
FAT1	2195	broad.mit.edu	37	chr4	187525553	187525554	+	Frame_Shift_Del	DEL	TC	TC	-													0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	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)gatfs		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)	Somatic					p.D3509fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	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	294	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		187525553	3628723	7	10845										
OR2V2	285659	broad.mit.edu	37	chr5	180582423	180582423	+	Frame_Shift_Del	DEL	A	A	-													0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	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)atgfs		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		Somatic					p.M161fs	NM_206880.1	NP_996763.1	WXS	Illumina GAIIx	Phase_I	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	294	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	8	10846										
LONRF1	91694	broad.mit.edu	37	chr8	12586450	12586450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	caatgtcggcagtgcaatatCcatctttcattcctcttttt	5	11	3	0			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	LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|MIR3926-2_ENST00000578598.1_RNA|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		Somatic				LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	p.G657V	NM_152271.3	NP_689484.3	WXS	Illumina GAIIx	Phase_I	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	26	46	---	---	---	---	A	12586450	C	A	12586450	3	1	294	1	0	0	0	0	1	0	0	0	8894	855	30	3	363	3	LONRF1	8	12586450	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		12586450	133777572	9	10847										
FAM82B	51115	broad.mit.edu	37	chr8	87487083	87487083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	ctgtgtgtgctggatagtccTtggctttcattagccagaaa	11	8	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.chr8:87487083T>C	ENST00000406452.3	-	9	1019	c.860A>G	c.(859-861)aAg>aGg	p.K287R	RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R	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		Somatic				RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R	p.K287R	NM_016033.2	NP_057117.2	WXS	Illumina GAIIx	Phase_I					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	49	96	---	---	---	---	C	87487083	T	C	87487083	3	2	294	1	0	0	0	0	1	0	0	0	5632	1609	56	2	92	2	FAM82B	8	87487083	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08	74900633	87487083	58876939	10	10848										
SORCS3	22986	broad.mit.edu	37	chr10	106802875	106802876	+	Missense_Mutation	DNP	CA	CA	AG													0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	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.chr10:106802875_106802876CA>AG	ENST00000369701.3	+	5	1244_1245	c.1017_1018CA>AG	c.(1015-1020)aaCAgg>aaAGgg	p.339_340NR>KG		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)		TCACACCCAACAGGTTTTATTG	0.431																																					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|c.(1018-1020)Agg>Ggg		sortilin-related VPS10 domain containing receptor 3																																				SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106802875C>A|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	Exception_encountered	10.37:g.106802875_106802876delinsAG	ENSP00000358715:p.N339_R340delinsKG		Somatic					p.N339K|p.R340G	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	5	1244|1245	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	339|340					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1017C>A|c.1018A>G	CCDS7558.1																																																																																				0.431	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		5|6	71|68	5	68	---	---	---	---	AG	106802876	CA	AG	106802875	3	1	294	1	0	0	0	0	1	0	0	0	14932	477	17	3	1035	3	SORCS3	10	106802875	Missense_Mutation	DNP	CA	TCGA-VP-A87H-01A-11D-A34U-08		106802875	28731872	11	10849	20	2								
SORCS3	22986	broad.mit.edu	37	chr10	106802882	106802882	+	Missense_Mutation	SNP	T	T	A													0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	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		Somatic					p.Y342N	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	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	7	69	---	---	---	---	A	106802882	T	A	106802882	3	1	294	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	7	106802882	28731865	12	10850	20	2								
MUC6	4588	broad.mit.edu	37	chr11	1023628	1023628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	catggccgtcctgcgtgtgcGtgttgtagaagccgcagtag	15	10	0	1	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		Somatic					p.T1136M	NM_005961.2	NP_005952.2	WXS	Illumina GAIIx	Phase_I	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	4	25	---	---	---	---	A	1023628	G	A	1023628	3	1	294	1	0	0	0	0	1	0	0	0	9980	1145	40	2	3944	2	MUC6	11	1023628	Missense_Mutation	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		1023628	133982888	13	10851										
NPAT	4863	broad.mit.edu	37	chr11	108056136	108056136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	catatatagcttacctagttAaaaatttatttatgttttct	3	5	1	0			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		Somatic				NPAT_ENST00000610253.1_5'UTR	p.L271S	NM_002519.2	NP_002510.2	WXS	Illumina GAIIx	Phase_I	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	6	16	---	---	---	---	G	108056136	A	G	108056136	3	3	294	1	0	0	0	0	1	0	0	0	10566	372	13	2	3511	2	NPAT	11	108056136	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	107032508	108056136	26950380	14	10852										
TAS2R19	259294	broad.mit.edu	37	chr12	11175140	11175140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	aaatgcaaacactaccagaaTtgatgaaatgatgagcagaa	8	6	0	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.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		Somatic				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I11V	NM_176888.1	NP_795369.1	WXS	Illumina GAIIx	Phase_I	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	4	26	---	---	---	---	C	11175140	T	C	11175140	3	2	294	1	0	0	0	0	1	0	0	0	15567	1493	52	2	871	2	TAS2R19	12	11175140	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08		11175140	122676755	15	10853										
HNF1A	6927	broad.mit.edu	37	chr12	121416600	121416600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	taaactgagccagctgcagaCggagctcctggcggccctgc	13	14	0	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.chr12:121416600C>T	ENST00000257555.6	+	1	255	c.29C>T	c.(28-30)aCg>aTg	p.T10M	HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|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|HNF1A-AS1_ENST00000535301.1_RNA			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		Somatic				HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M	p.T10M			WXS	Illumina GAIIx	Phase_I	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	12	62	---	---	---	---	T	121416600	C	T	121416600	3	4	294	1	0	0	0	0	1	0	0	0	7251	536	19	2	31	2	HNF1A	12	121416600	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	110241460	121416600	12435295	16	10854										
EP400	57634	broad.mit.edu	37	chr12	132445686	132445686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	gggggcttcgtggatgccagCgtgctggtgaggcagatcag	19	8	1	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.chr12:132445686C>T	ENST00000333577.4	+	2	631	c.522C>T	c.(520-522)agC>agT	p.S174S	EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_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			Somatic				EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S	p.S174S			WXS	Illumina GAIIx	Phase_I	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	5	18	---	---	---	---	T	132445686	C	T	132445686	2	4	294	1	0	0	0	0	0	0	0	1	5149	767	27	2		2	EP400	12	132445686	Silent	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	11029086	132445686	1406209	17	10855										
MYO9A	4649	broad.mit.edu	37	chr15	72300187	72300187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	ctctaataattctgagacaaTaggcagaacttcaggattac	7	8	3	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.chr15:72300187T>C	ENST00000356056.5	-	8	1832	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V	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		Somatic				MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|RP11-390D11.1_ENST00000568391.1_RNA	p.I454V	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	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	18	35	---	---	---	---	C	72300187	T	C	72300187	3	2	294	1	0	0	0	0	1	0	0	0	10084	1406	49	2	6426	2	MYO9A	15	72300187	Missense_Mutation	SNP	T	TCGA-VP-A87H-01A-11D-A34U-08		72300187	30231205	18	10856										
SEZ6L2	26470	broad.mit.edu	37	chr16	29891286	29891286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	ccagggcatatcctgggaggCacgagaaggttgccagtgcc	15	11	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.chr16:29891286C>T	ENST00000308713.5	-	9	1999	c.1472G>A	c.(1471-1473)tGc>tAc	p.C491Y	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y	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		Somatic				SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	p.C491Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina GAIIx	Phase_I	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	15	93	---	---	---	---	T	29891286	C	T	29891286	3	4	294	1	0	0	0	0	1	0	0	0	14144	710	25	2	1339	2	SEZ6L2	16	29891286	Missense_Mutation	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08		29891286	60463467	19	10857										
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	7	11	3	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.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|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	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)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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	37	88	---	---	---	---	C	47696426	A	C	47696426	3	2	294	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		47696426	33498784	20	10858										
FAM100B	283991	broad.mit.edu	37	chr17	74266281	74266281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	gttctctcccgcagatgtgcActcccagcaacacccctgcc	7	19	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		Somatic				UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	p.T64A	NM_182565.3	NP_872371.1	WXS	Illumina GAIIx	Phase_I					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	4	19	---	---	---	---	G	74266281	A	G	74266281	3	3	294	1	0	0	0	0	1	0	0	0	5379	159	6	2	200	2	FAM100B	17	74266281	Missense_Mutation	SNP	A	TCGA-VP-A87H-01A-11D-A34U-08	26569855	74266281	6928929	21	10859										
LSM14A	26065	broad.mit.edu	37	chr19	34685513	34685514	+	Frame_Shift_Ins	INS	-	-	T													0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	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.(253-255)tgtfs		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		Somatic				LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.C85fs	p.C85fs	NM_015578.2	NP_056393.2	WXS	Illumina GAIIx	Phase_I	Q8ND56	LS14A_HUMAN			2	329_330	+	Esophageal squamous(110;0.162)		85					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	294	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	22	10860										
SLC17A7	57030	broad.mit.edu	37	chr19	49935776	49935776	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	ccaggccccgccccactcacCtccgcagttcatcaacttgc	6	21	3	0	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.(1150-1152)Ggc>Agc		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			Somatic				SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S	p.G384S	NM_020309.3	NP_064705.1	WXS	Illumina GAIIx	Phase_I	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.1150G>A	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	3	8	---	---	---	---	T	49935776	C	T	49935776	5	4	294	1	0	0	0	0	0	0	1	0	14422	695	24	2	548	2	SLC17A7	19	49935776	Splice_Site	SNP	C	TCGA-VP-A87H-01A-11D-A34U-08	15250263	49935776	9193207	23	10861										
DOPEY2	9980	broad.mit.edu	37	chr21	37605187	37605187	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.44632768361582	0	1.85956416464891	0.428571428571429	1	0	gactgctacctccagaacgtGgccatttccactctgctgga	9	14	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.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			Somatic					p.V812V	NM_005128.2	NP_005119.2	WXS	Illumina GAIIx	Phase_I	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	16	116	---	---	---	---	C	37605187	G	C	37605187	2	2	294	1	0	0	0	0	0	0	0	1	4708	1335	47	4		4	DOPEY2	21	37605187	Silent	SNP	G	TCGA-VP-A87H-01A-11D-A34U-08		37605187	10524708	24	10862										
ARID1A	8289	broad.mit.edu	37	chr1	27100117	27100117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaacatgagcactggggccCcacagccgaatctcatgcct	10	14	1	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.chr1:27100117C>T	ENST00000324856.7	+	16	4284	c.3913C>T	c.(3913-3915)Cca>Tca	p.P1305S	ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S	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		Somatic				ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	p.P1305S	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	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	11	61	---	---	---	---	T	27100117	C	T	27100117	3	4	295	1	0	0	0	0	1	0	0	0	913	623	22	2	3975	2	ARID1A	1	27100117	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		27100117	222150504	1	10863										
LRRC7	57554	broad.mit.edu	37	chr1	70482159	70482159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttgcagattgaagaattTaccattctcatttaccaaac	4	8	1	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.chr1:70482159T>C	ENST00000035383.5	+	12	1178	c.1148T>C	c.(1147-1149)tTa>tCa	p.L383S	LRRC7_ENST00000310961.5_Missense_Mutation_p.L388S|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	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		Somatic				LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S	p.L388S			WXS	Illumina GAIIx	Phase_I	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	8	98	---	---	---	---	C	70482159	T	C	70482159	3	2	295	1	0	0	0	0	1	0	0	0	9020	1764	61	2	1194	2	LRRC7	1	70482159	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08	43382042	70482159	178768462	2	10864										
HRNR	388697	broad.mit.edu	37	chr1	152192453	152192453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctggaagactgcctggaaCcagactcatgtcggccacgg	13	12	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.chr1:152192453C>G	ENST00000368801.2	-	3	1727	c.1652G>C	c.(1651-1653)gGt>gCt	p.G551A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_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		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G551A	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	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	6	216	---	---	---	---	G	152192453	C	G	152192453	3	3	295	1	0	0	0	0	1	0	0	0	7359	507	18	4	6904	4	HRNR	1	152192453	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	81710294	152192453	97058168	3	10865										
TMCC2	9911	broad.mit.edu	37	chr1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggccctgagcctccccgccGgccatggtgacaccgacggc	13	18	0	2	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_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S	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		Somatic				TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S	p.G263S	NM_014858.3	NP_055673.2	WXS	Illumina GAIIx	Phase_I	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	9	74	---	---	---	---	A	205238117	G	A	205238117	3	1	295	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	53045664	205238117	44012504	4	10866										
TTN	7273	broad.mit.edu	37	chr2	179476287	179476287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgcctactggacacattTcaacatggtatcctatgata	7	10	1	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.chr2:179476287T>G	ENST00000591111.1	-	219	45970	c.45746A>C	c.(45745-45747)gAa>gCa	p.E15249A	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16890A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_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		Somatic				TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000589487.1_RNA	p.E16890A	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	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	53	78	---	---	---	---	G	179476287	T	G	179476287	3	3	295	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		179476287	63723086	5	10867										
EIF4E	1977	broad.mit.edu	37	chr4	99823091	99823091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcctgattagattccgtttTctcctcttctgtagtcgggg	9	11	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.chr4:99823091T>G	ENST00000450253.2	-	2	1585	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q	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		Somatic				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	p.K21Q	NM_001968.3	NP_001959.1	WXS	Illumina GAIIx	Phase_I	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	55	90	---	---	---	---	G	99823091	T	G	99823091	3	3	295	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		99823091	91331185	6	10868										
HSPB3	8988	broad.mit.edu	37	chr5	53751722	53751722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggctggatcatgctttaTatgcactgcctgggccaacc	11	12	1	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.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		Somatic					p.Y35H	NM_006308.2	NP_006299.1	WXS	Illumina GAIIx	Phase_I	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	29	65	---	---	---	---	C	53751722	T	C	53751722	3	2	295	1	0	0	0	0	1	0	0	0	7421	1406	49	2	105	2	HSPB3	5	53751722	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		53751722	127163538	7	10869										
UBAP2	55833	broad.mit.edu	37	chr9	33943522	33943522	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgacccaaattccagagcCccaaactgcacatttaatcc	4	15	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.chr9:33943522C>A	ENST00000379238.1	-	15	1728	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|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			Somatic				UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G	p.G537G			WXS	Illumina GAIIx	Phase_I	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	29	57	---	---	---	---	A	33943522	C	A	33943522	2	1	295	1	0	0	0	0	0	0	0	1	16834	610	22	1		1	UBAP2	9	33943522	Silent	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		33943522	107269909	8	10870										
DNAJC25	548645	broad.mit.edu	37	chr9	114412196	114412196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagctctggatcaaggagaAttatgaggtgagtagtcacc	13	6	3	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.chr9:114412196A>G	ENST00000313525.3	+	3	1009	c.953A>G	c.(952-954)aAt>aGt	p.N318S	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_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		Somatic				DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	p.N318S	NM_001015882.2	NP_001015882.2	WXS	Illumina GAIIx	Phase_I	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	14	13	---	---	---	---	G	114412196	A	G	114412196	3	3	295	1	0	0	0	0	1	0	0	0	4643	101	4	2	963	2	DNAJC25	9	114412196	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	80468674	114412196	26801235	9	10871										
DHDPSL	112817	broad.mit.edu	37	chr10	99358577	99358577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgagtttcctttcctgaccaGcagtgagcgcctcgaggtgg	13	12	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	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_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		Somatic				PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	p.S86I	NM_138413.3	NP_612422.2	WXS	Illumina GAIIx	Phase_I					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	4	97	---	---	---	---	T	99358577	G	T	99358577	3	4	295	1	0	0	0	0	1	0	0	0	4480	971	34	3	263	3	DHDPSL	10	99358577	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		99358577	36176170	10	10872										
PGR	5241	broad.mit.edu	37	chr11	100998642	100998642	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccttcctcctcctcctttAtctttagagcgggcggctgg	10	15	1	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.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		Somatic				PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I387T	p.I387T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	WXS	Illumina GAIIx	Phase_I	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	14	14	---	---	---	---	G	100998642	A	G	100998642	3	3	295	1	0	0	0	0	1	0	0	0	11805	449	16	2	1673	2	PGR	11	100998642	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08		100998642	34007874	11	10873										
CDKN1B	1027	broad.mit.edu	37	chr12	12871204	12871204	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcggacagccagacggggtTagcggagcaatgcgcaggaa	17	9	0	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_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	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*		Somatic				CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	p.L144*	NM_004064.3	NP_004055.1	WXS	Illumina GAIIx	Phase_I	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	4	16	---	---	---	---	G	12871204	T	G	12871204	4	3	295	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	12	10874										
UTP14C	9724	broad.mit.edu	37	chr13	52603570	52603571	+	Missense_Mutation	DNP	TC	TC	CT													0	0	1	0	0	0	1	1	0	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.chr13:52603570_52603571TC>CT	ENST00000521776.2	+	2	1363_1364	c.630_631TC>CT	c.(628-633)tcTCtc>tcCTtc	p.L211F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_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)		AAAAGGCCTCTCTCCAAGCCAT	0.525																																						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|c.(631-633)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)																																				SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603570T>C|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	Exception_encountered	13.37:g.52603570_52603571delinsCT	ENSP00000428619:p.Leu211Phe		Somatic				ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.S210S|p.L211F	NM_021645.5	NP_067677.4	WXS	Illumina GAIIx	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1363|1364	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	210|211					Q5FWG3|Q92555	Silent|Missense_Mutation	SNP	ENST00000521776.2	37	c.630T>C|c.631C>T	CCDS31978.1																																																																																				0.525	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	80|78	8	78	---	---	---	---	CT	52603571	TC	CT	52603570	3	2	295	1	0	0	0	0	1	0	0	0	17093	1538	54	2	632	2	UTP14C	13	52603570	Missense_Mutation	DNP	TC	TCGA-VP-A87J-01A-11D-A34U-08		52603570	62566308	13	10875										
UACA	55075	broad.mit.edu	37	chr15	70960750	70960750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagatcatcaataattgcaTcatgtgactttttcatgtct	5	7	5	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.chr15:70960750T>C	ENST00000322954.6	-	16	2458	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G|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		Somatic				UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G	p.D758G	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	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	5	51	---	---	---	---	C	70960750	T	C	70960750	3	2	295	1	0	0	0	0	1	0	0	0	16821	1435	50	2	1993	2	UACA	15	70960750	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		70960750	31570642	14	10876										
USP10	9100	broad.mit.edu	37	chr16	84793526	84793526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgaatgagttcactaataTgccagtacctccaaaacccc	5	12	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.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		Somatic				USP10_ENST00000570191.1_Missense_Mutation_p.M479T	p.M475T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	WXS	Illumina GAIIx	Phase_I	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	26	17	---	---	---	---	C	84793526	T	C	84793526	3	2	295	1	0	0	0	0	1	0	0	0	17038	1464	51	2	1450	2	USP10	16	84793526	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		84793526	5561227	15	10877										
CNTROB	116840	broad.mit.edu	37	chr17	7836490	7836490	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggctcaaccaagtgtcGtctgaagtgacctcccagct	10	14	2	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.chr17:7836490G>T	ENST00000563694.1	+	1	1018	c.93G>T	c.(91-93)tcG>tcT	p.S31S	CNTROB_ENST00000565740.1_Silent_p.S31S|RP11-1099M24.7_ENST00000573621.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|TRAPPC1_ENST00000540486.1_5'Flank|CNTROB_ENST00000380255.3_Silent_p.S31S|CNTROB_ENST00000380262.3_Silent_p.S31S	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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	50	87	---	---	---	---	T	7836490	G	T	7836490	2	4	295	1	0	0	0	0	0	0	0	1	3651	1132	40	3		3	CNTROB	17	7836490	Silent	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		7836490	73358720	16	10878										
FAM18B2	201158	broad.mit.edu	37	chr17	15406355	15406355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggagaactaaggcggggCgcaggtttccagtaaagagc	17	7	0	2	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-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)	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			Somatic				TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	p.A218A	NM_145301.2	NP_660344.2	WXS	Illumina GAIIx	Phase_I					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	15	26	---	---	---	---	A	15406355	C	A	15406355	2	1	295	1	0	0	0	0	0	0	0	1	5520	755	27	3		3	FAM18B2	17	15406355	Silent	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	7569865	15406355	65788855	17	10879										
NF1	4763	broad.mit.edu	37	chr17	29576014	29576014	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttgtaggttagaaccatcAgagagccttgaggaaaacca	10	7	1	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.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)	Somatic				NF1_ENST00000356175.3_Silent_p.S1329S	p.S1329S	NM_001042492.2	NP_001035957.1	WXS	Illumina GAIIx	Phase_I	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	7	100	---	---	---	---	G	29576014	A	G	29576014	2	3	295	1	0	0	0	0	0	0	0	1	10356	175	7	2		2	NF1	17	29576014	Silent	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	14169659	29576014	51619196	18	10880										
IGF2BP1	10642	broad.mit.edu	37	chr17	47121347	47121347	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaggctcccgagcaggagAtggtgcaggtgtttatcccc	14	11	0	1	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		Somatic				IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	p.M407V	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	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	43	48	---	---	---	---	G	47121347	A	G	47121347	3	3	295	1	0	0	0	0	1	0	0	0	7573	333	12	2	1261	2	IGF2BP1	17	47121347	Missense_Mutation	SNP	A	TCGA-VP-A87J-01A-11D-A34U-08	17545333	47121347	34073863	19	10881										
COLEC12	81035	broad.mit.edu	37	chr18	347050	347050	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatacatttggttctgcagaTtgccctggagcacgctggta	11	9	1	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.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		Somatic					p.N191S	NM_130386.2	NP_569057	WXS	Illumina GAIIx	Phase_I	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	13	119	---	---	---	---	C	347050	T	C	347050	3	2	295	1	0	0	0	0	1	0	0	0	3712	1493	52	2	1680	2	COLEC12	18	347050	Missense_Mutation	SNP	T	TCGA-VP-A87J-01A-11D-A34U-08		347050	77730198	20	10882										
PSMA8	143471	broad.mit.edu	37	chr18	23713978	23713978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcttctccccagacggaCacctttttcaagttgaatat	6	12	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.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		Somatic				PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N	p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	WXS	Illumina GAIIx	Phase_I	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	4	59	---	---	---	---	A	23713978	C	A	23713978	3	1	295	1	0	0	0	0	1	0	0	0	12673	478	17	3	51	3	PSMA8	18	23713978	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	23366928	23713978	54363270	21	10883										
PSG1	5669	broad.mit.edu	37	chr19	43372287	43372287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcatggatttggagctttcCttgccagtggctgagttacg	13	8	1	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.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_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000244296.2_Missense_Mutation_p.K403N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N	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	5669							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		Somatic				PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N	p.K403N	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					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	95	177	---	---	---	---	A	43372287	C	A	43372287	3	1	295	1	0	0	0	0	1	0	0	0	12653	680	24	1	111	1	PSG1	19	43372287	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08		43372287	15756696	22	10884										
NLRP7	199713	broad.mit.edu	37	chr19	55451127	55451127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccagctggaacagggccgCgttgctcctcattagctcaa	11	14	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.chr19:55451127C>T	ENST00000590030.1	-	3	1100	c.1060G>A	c.(1060-1062)Gcg>Acg	p.A354T	NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A382T			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																																						ENST00000446217.1																			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.(1144-1146)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		Somatic				NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T	p.A382T			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1546	-			354			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1144G>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	17	28	---	---	---	---	T	55451127	C	T	55451127	3	4	295	1	0	0	0	0	1	0	0	0	10482	768	27	2	2085	2	NLRP7	19	55451127	Missense_Mutation	SNP	C	TCGA-VP-A87J-01A-11D-A34U-08	12078840	55451127	3677856	23	10885										
APOBEC3F	200316	broad.mit.edu	37	chr22	39439011	39439011	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatagacccatcctttctcgTcggaataccgtctggctgtg	9	12	2	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.chr22:39439011T>G	ENST00000308521.5	+	2	444	c.87T>G	c.(85-87)cgT>cgG	p.R29R	APOBEC3F_ENST00000381565.2_Silent_p.R29R|APOBEC3G_ENST00000452957.2_Intron|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			Somatic				APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R	p.R29R	NM_145298.5	NP_660341.2	WXS	Illumina GAIIx	Phase_I	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	4	54	---	---	---	---	G	39439011	T	G	39439011	2	3	295	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	24	10886										
MED12	9968	broad.mit.edu	37	chrX	70349255	70349255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatggagccgtgtttgctGttctcaaggctgtgtttgta	14	6	1	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.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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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	18	3	---	---	---	---	C	70349255	G	C	70349255	3	2	295	1	0	0	0	0	1	0	0	0	9428	1377	48	4	3769	4	MED12	23	70349255	Missense_Mutation	SNP	G	TCGA-VP-A87J-01A-11D-A34U-08		70349255	84921305	25	10887										
PIK3CD	5293	broad.mit.edu	37	chr1	9775907	9775907	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	cagccctccccaccccgcagGcctccacgagtttgactcct	7	21	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_ENST00000536656.1_Splice_Site_p.G124D|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D|PIK3CD_ENST00000543390.1_5'Flank	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.(370-372)gGc>gAc		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			Somatic				PIK3CD_ENST00000377346.4_Splice_Site_p.G124D|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D	p.G124D			WXS	Illumina GAIIx	Phase_I	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.371G>A	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	3	24	---	---	---	---	A	9775907	G	A	9775907	5	1	296	1	0	0	0	0	0	0	1	0	11915	1217	42	2	381	2	PIK3CD	1	9775907	Splice_Site	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		9775907	239474714	1	10888										
EFCAB7	84455	broad.mit.edu	37	chr1	63991268	63991268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	cgatcagtccacgaagcgatGcaactttctccagtcagaaa	8	12	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_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank|ITGB3BP_ENST00000271002.10_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		Somatic					p.A9T	NM_032437.2	NP_115813.2	WXS	Illumina GAIIx	Phase_I	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	6	100	---	---	---	---	A	63991268	G	A	63991268	3	1	296	1	0	0	0	0	1	0	0	0	4940	1319	46	2	27	2	EFCAB7	1	63991268	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	54215361	63991268	185259353	2	10889										
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	12	7	2	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		Somatic					p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	WXS	Illumina GAIIx	Phase_I	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	4	50	---	---	---	---	A	96260870	G	A	96260870	3	1	296	1	0	0	0	0	1	0	0	0	16515	1233	43	2	490	2	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		96260870	146938503	3	10890										
ZAP70	7535	broad.mit.edu	37	chr2	98355918	98355918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	cctggccagcaaggtggaagGgcccccaggcagcacacaga	14	14	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.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_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000463643.1_3'UTR	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		Somatic				ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000463643.1_3'UTR	p.G606E	NM_001079.3	NP_001070.2	WXS	Illumina GAIIx	Phase_I	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	17	19	---	---	---	---	A	98355918	G	A	98355918	3	1	296	1	0	0	0	0	1	0	0	0	17511	1232	43	2	1863	2	ZAP70	2	98355918	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	2095048	98355918	144843455	4	10891										
XIRP2	129446	broad.mit.edu	37	chr2	168067309	168067309	+	De_novo_Start_InFrame	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	agtgctgctcggggcgagggTgtgtcagacctccacgaagt	16	10	1	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.chr2:168067309T>A	ENST00000409605.1	+	0	314				XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409756.2_Silent_p.G209G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409273.1_De_novo_Start_InFrame	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			Somatic				XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409605.1_De_novo_Start_InFrame|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409756.2_Silent_p.G209G		NM_001199144.1	NP_001186073.1	WXS	Illumina GAIIx	Phase_I	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	60	60	---	---	---	---	A	168067309	T	A	168067309	1	1	296	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	5	10892										
STAT4	6775	broad.mit.edu	37	chr2	191897829	191897829	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tcagcgaatggcagagcagaCaaccggcctttattgtaggg	13	9	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.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		Somatic				STAT4_ENST00000358470.4_Missense_Mutation_p.L633F	p.L633F	NM_003151.3	NP_003142.1	WXS	Illumina GAIIx	Phase_I	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	29	30	---	---	---	---	A	191897829	C	A	191897829	3	1	296	1	0	0	0	0	1	0	0	0	15266	477	17	3	363	3	STAT4	2	191897829	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	23830520	191897829	51301544	6	10893										
POLQ	10721	broad.mit.edu	37	chr3	121248495	121248495	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ttccatccataactcaccctCagcttgatgatgtagattat	5	11	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.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		Somatic				POLQ_ENST00000488282.1_5'UTR	p.E369K	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	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	4	103	---	---	---	---	T	121248495	C	T	121248495	3	4	296	1	0	0	0	0	1	0	0	0	12208	835	29	2	6763	2	POLQ	3	121248495	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		121248495	76773935	7	10894										
SEL1L3	23231	broad.mit.edu	37	chr4	25785888	25785888	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	catcagctctaaggcaagccGtctgttcttttttactcctt	6	12	4	0	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		Somatic				SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G	p.R748G	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	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	93	141	---	---	---	---	C	25785888	G	C	25785888	3	2	296	1	0	0	0	0	1	0	0	0	14012	1144	40	4	1200	4	SEL1L3	4	25785888	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		25785888	165368388	8	10895										
EDNRA	1909	broad.mit.edu	37	chr4	148453712	148453712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ggaattgggattcctttggtAactgccattgaaattgtctc	10	7	1	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.chr4:148453712A>G	ENST00000324300.5	+	4	1118	c.603A>G	c.(601-603)gtA>gtG	p.V201V	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_Missense_Mutation_p.N159D|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000506066.1_Intron	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			Somatic				EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR	p.N159D			WXS	Illumina GAIIx	Phase_I	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	55	90	---	---	---	---	G	148453712	A	G	148453712	2	3	296	1	0	0	0	0	0	0	0	1	4919	349	13	2		2	EDNRA	4	148453712	Silent	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08	122667824	148453712	42700564	9	10896										
SEC63	11231	broad.mit.edu	37	chr6	108214759	108214759	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	atagcacaggtgtaggttttTtttttaaaggtttctttttt	8	3	1	0	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		Somatic					p.K534T	NM_007214.4	NP_009145.1	WXS	Illumina GAIIx	Phase_I	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	73	84	---	---	---	---	G	108214759	T	G	108214759	3	3	296	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		108214759	62900308	10	10897										
ABCA13	154664	broad.mit.edu	37	chr7	48314144	48314144	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tcacctgaaataatgaaagcTacaggtcttggtattcaact	7	8	3	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.chr7:48314144T>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			Somatic					p.A1627A	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	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	68	84	---	---	---	---	C	48314144	T	C	48314144	2	2	296	1	0	0	0	0	0	0	0	1	31	1509	53	2		2	ABCA13	7	48314144	Silent	SNP	T	TCGA-VP-A87K-01A-11D-A34U-08		48314144	110824519	11	10898										
CSMD3	114788	broad.mit.edu	37	chr8	113599319	113599319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	agaacatctccttgtgctaaAtgaaatgttctggctgaaat	8	7	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.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)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q	p.H1287Q	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	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	27	26	---	---	---	---	C	113599319	A	C	113599319	3	2	296	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	12	10899										
KIAA2026	158358	broad.mit.edu	37	chr9	6007388	6007388	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	cagcagacacatgccctgtcCgggctgctgcgggaaggcgc	15	14	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.chr9:6007388C>A	ENST00000399933.3	-	1	399	c.400G>T	c.(400-402)Gga>Tga	p.G134*	MIR4665_ENST00000581132.1_RNA|KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	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*		Somatic				KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134*	p.G134*	NM_001017969.2	NP_001017969.2	WXS	Illumina GAIIx	Phase_I	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	10	14	---	---	---	---	A	6007388	C	A	6007388	4	1	296	1	0	0	0	0	0	1	0	0	8270	661	23	1	5943	1	KIAA2026	9	6007388	Nonsense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		6007388	135206043	13	10900										
CDK20	23552	broad.mit.edu	37	chr9	90585482	90585482	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	gaccacccacaggggtctcaCcacagatcgacgccctggtc	10	17	1	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.chr9:90585482C>G	ENST00000325303.8	-	5	869		c.e5+1		CDK20_ENST00000605159.1_Intron|CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000375883.3_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			Somatic				CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron		NM_001039803.2	NP_001034892.1	WXS	Illumina GAIIx	Phase_I	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	7	21	---	---	---	---	G	90585482	C	G	90585482	5	3	296	1	0	0	0	0	0	0	1	0	3137	521	18	4	492	4	CDK20	9	90585482	Splice_Site	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	84578094	90585482	50627949	14	10901										
KIAA1274	27143	broad.mit.edu	37	chr10	72291081	72291081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tgtgtgcgggaggaacctgtGcttttcctgcgtgcagatga	15	8	0	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			Somatic					p.V168V	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					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	22	46	---	---	---	---	A	72291081	G	A	72291081	2	1	296	1	0	0	0	0	0	0	0	1	8220	1306	46	2		2	KIAA1274	10	72291081	Silent	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		72291081	63243666	15	10902										
ATG2A	23130	broad.mit.edu	37	chr11	64678137	64678137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ggcgcagatgggcgcagggcCgagctgaggcctgggagccc	20	12	0	2	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		Somatic				ATG2A_ENST00000377264.3_Missense_Mutation_p.R553Q	p.R553Q			WXS	Illumina GAIIx	Phase_I	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	5	8	---	---	---	---	T	64678137	C	T	64678137	3	4	296	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		64678137	70328379	16	10903										
UBE3B	89910	broad.mit.edu	37	chr12	109948242	109948242	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ctgccggcggcgcttcacccCcgaggaccactggctgcgaa	13	17	1	0	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_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_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		Somatic				UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR	p.P612R	NM_130466.3	NP_569733.2	WXS	Illumina GAIIx	Phase_I	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	6	10	---	---	---	---	G	109948242	C	G	109948242	3	3	296	1	0	0	0	0	1	0	0	0	16877	623	22	4	1893	4	UBE3B	12	109948242	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		109948242	23903653	17	10904										
FAM101A	144347	broad.mit.edu	37	chr12	124798835	124798835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	cggcctacagcgagaccatcGtggcagcacccaactgcacg	11	16	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.chr12:124798835G>A	ENST00000389727.3	+	3	415	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	FAM101A_ENST00000324038.3_Missense_Mutation_p.V58M|FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_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																																						ENST00000324038.3																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(172-174)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		Somatic				FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000389727.3_Missense_Mutation_p.V139M	p.V58M	NM_181709.4	NP_859060.3	WXS	Illumina GAIIx	Phase_I	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.172G>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	4	99	---	---	---	---	A	124798835	G	A	124798835	3	1	296	1	0	0	0	0	1	0	0	0	5380	1145	40	2	178	2	FAM101A	12	124798835	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	14850593	124798835	9053060	18	10905										
MDGA2	161357	broad.mit.edu	37	chr14	47600972	47600972	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tcaggaatattacatacattCctcactgaagcaatgcagct	6	10	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.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																																						ENST00000399232.2																			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			Somatic				MDGA2_ENST00000439988.3_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR	p.R221R	NM_001113498.2	NP_001106970.3	WXS	Illumina GAIIx	Phase_I	Q7Z553	MDGA2_HUMAN			5	1027	-			152			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	42	50	---	---	---	---	T	47600972	C	T	47600972	2	4	296	1	0	0	0	0	0	0	0	1	9407	854	30	2		2	MDGA2	14	47600972	Silent	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		47600972	59748568	19	10906										
GLDN	342035	broad.mit.edu	37	chr15	51696652	51696652	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	gcattcttgtagcacaactgGatgagaggacattctcagtg	11	8	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.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		Somatic				GLDN_ENST00000396399.2_Missense_Mutation_p.D329H	p.D453H	NM_181789.2	NP_861454.2	WXS	Illumina GAIIx	Phase_I	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	29	87	---	---	---	---	C	51696652	G	C	51696652	3	2	296	1	0	0	0	0	1	0	0	0	6434	1174	41	4	1395	4	GLDN	15	51696652	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08		51696652	50834740	20	10907										
MKL2	57496	broad.mit.edu	37	chr16	14355248	14355248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tcagcaccaccgcgccgagcAtgttctctgctgactttcta	8	15	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.chr16:14355248A>G	ENST00000341243.5	+	15	3214	c.3214A>G	c.(3214-3216)Atg>Gtg	p.M1072V	MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V|MKL2_ENST00000571589.1_Missense_Mutation_p.M1083V|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		Somatic				MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V|MKL2_ENST00000341243.5_Missense_Mutation_p.M1072V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V	p.M1083V	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	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	20	49	---	---	---	---	G	14355248	A	G	14355248	3	3	296	1	0	0	0	0	1	0	0	0	9602	217	8	2	3155	2	MKL2	16	14355248	Missense_Mutation	SNP	A	TCGA-VP-A87K-01A-11D-A34U-08		14355248	75999505	21	10908										
C16orf48	84080	broad.mit.edu	37	chr16	67699024	67699024	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	tctgaagcgcttctgaatctCcctgatccgcctcaggttct	8	14	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.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*		Somatic				ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110*	p.E110*	NM_032140.1	NP_115516.1	WXS	Illumina GAIIx	Phase_I					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	8	102	---	---	---	---	A	67699024	C	A	67699024	4	1	296	1	0	0	0	0	0	1	0	0	1816	864	30	3	732	3	C16orf48	16	67699024	Nonsense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	53343776	67699024	22655729	22	10909										
SGSH	6448	broad.mit.edu	37	chr17	78187632	78187632	+	Frame_Shift_Del	DEL	T	T	-													0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	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_ENST00000534910.1_Frame_Shift_Del_p.Q36fs|SGSH_ENST00000572208.1_5'UTR	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)cagfs		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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	296	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		78187632	3007578	23	10910										
MCM8	84515	broad.mit.edu	37	chr20	5965438	5965438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ccttcatagaatggggagtgCactactatccagatttgatt	9	8	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.chr20:5965438C>A	ENST00000378896.3	+	15	2122	c.1745C>A	c.(1744-1746)gCa>gAa	p.A582E	MCM8_ENST00000378883.1_Missense_Mutation_p.A535E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|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		Somatic				MCM8_ENST00000378886.2_Missense_Mutation_p.A622E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E	p.A582E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	WXS	Illumina GAIIx	Phase_I	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	4	60	---	---	---	---	A	5965438	C	A	5965438	3	1	296	1	0	0	0	0	1	0	0	0	9393	710	25	3	1799	3	MCM8	20	5965438	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		5965438	57060082	24	10911										
PLUNC	51297	broad.mit.edu	37	chr20	31825867	31825867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	acacccatttccagccctcaGcaatggcctgctgtctgggg	10	15	2	0	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_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_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		Somatic				BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N	p.S56N	NM_130852.2	NP_570913.1	WXS	Illumina GAIIx	Phase_I	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	15	22	---	---	---	---	A	31825867	G	A	31825867	3	1	296	1	0	0	0	0	1	0	0	0	12115	971	34	2	173	2	PLUNC	20	31825867	Missense_Mutation	SNP	G	TCGA-VP-A87K-01A-11D-A34U-08	25860429	31825867	31199653	25	10912										
ZBTB46	140685	broad.mit.edu	37	chr20	62421621	62421621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	ccacggggagatgctcctccCagccatcacggccgagatga	12	15	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.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_ENST00000395104.1_Missense_Mutation_p.G164R|ZBTB46_ENST00000480766.1_5'Flank	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		Somatic				ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R	p.G164R	NM_025224.3	NP_079500.2	WXS	Illumina GAIIx	Phase_I	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	11	20	---	---	---	---	T	62421621	C	T	62421621	3	4	296	1	0	0	0	0	1	0	0	0	17544	594	21	2	1295	2	ZBTB46	20	62421621	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08	30595754	62421621	603899	26	10913										
PCNT	5116	broad.mit.edu	37	chr21	47847672	47847672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.037037037037037	1	1	0.456487341772152	0	0.608649789029536	1	1	0	agatctggggggtcacagctCcctgctcgaaaggctggaga	15	10	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.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		Somatic				PCNT_ENST00000480896.1_3'UTR	p.S2486F	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	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	7	23	---	---	---	---	T	47847672	C	T	47847672	3	4	296	1	0	0	0	0	1	0	0	0	11590	855	30	2	7591	2	PCNT	21	47847672	Missense_Mutation	SNP	C	TCGA-VP-A87K-01A-11D-A34U-08		47847672	282223	27	10914										
AJAP1	55966	broad.mit.edu	37	chr1	4772618	4772618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ccaccacggccacccccatgAcgctgcagactaaggggttc	10	17	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.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		Somatic				AJAP1_ENST00000378190.3_Missense_Mutation_p.T230A	p.T230A	NM_018836.3	NP_061324.1	WXS	Illumina GAIIx	Phase_I	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	23	13	---	---	---	---	G	4772618	A	G	4772618	3	3	297	1	0	0	0	0	1	0	0	0	438	275	10	2	694	2	AJAP1	1	4772618	Missense_Mutation	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08		4772618	244478003	1	10915										
METTL13	51603	broad.mit.edu	37	chr1	171761209	171761209	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ggcgggggcagcctccccctCtttgtccacgatcattttcc	10	16	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.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			Somatic				METTL13_ENST00000362019.3_Silent_p.L423L|METTL13_ENST00000458517.1_Silent_p.L508L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Silent_p.L353L	p.L509L	NM_015935.4	NP_057019.3	WXS	Illumina GAIIx	Phase_I	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	48	70	---	---	---	---	T	171761209	C	T	171761209	2	4	297	1	0	0	0	0	0	0	0	1	9497	900	32	2		2	METTL13	1	171761209	Silent	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	166988591	171761209	77489412	2	10916										
IL1B	3553	broad.mit.edu	37	chr2	113593795	113593795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	atttcactggcgagctcaggTacttctgccatggctgcttc	10	12	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.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			Somatic				IL1B_ENST00000491056.1_5'UTR	p.V4V	NM_000576.2	NP_000567.1	WXS	Illumina GAIIx	Phase_I	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	41	54	---	---	---	---	C	113593795	T	C	113593795	2	2	297	1	0	0	0	0	0	0	0	1	7651	1625	57	2		2	IL1B	2	113593795	Silent	SNP	T	TCGA-WW-A8ZI-01A-11D-A377-08		113593795	129605578	3	10917										
THSD7B	80731	broad.mit.edu	37	chr2	138413129	138413129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ttcctgcatggtccacagtgGttcaatatctcatgcagctg	9	11	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.chr2:138413129G>A	ENST00000409968.1	+	22	4182	c.4004G>A	c.(4003-4005)gGt>gAt	p.G1335D	THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000543459.1_Intron			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		Somatic				THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1338D|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1307D	p.G1335D			WXS	Illumina GAIIx	Phase_I				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	9	15	---	---	---	---	A	138413129	G	A	138413129	3	1	297	1	0	0	0	0	1	0	0	0	15877	1261	44	2	3998	2	THSD7B	2	138413129	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	24819334	138413129	104786244	4	10918										
SCN10A	6336	broad.mit.edu	37	chr3	38763822	38763822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	tgtgctccacgatacggtagCaagtcttgcgcacctgccag	11	13	1	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.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		Somatic					p.C1145F	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	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	43	57	---	---	---	---	A	38763822	C	A	38763822	3	1	297	1	0	0	0	0	1	0	0	0	13912	710	25	3	2472	3	SCN10A	3	38763822	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		38763822	159258608	5	10919										
ATP13A3	79572	broad.mit.edu	37	chr3	194146084	194146084	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	aacttacaatttttgtagcaAggttgcctgaagggttttcc	9	7	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.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			Somatic				ATP13A3_ENST00000256031.4_Silent_p.P1100P	p.P1100P			WXS	Illumina GAIIx	Phase_I	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	20	43	---	---	---	---	G	194146084	A	G	194146084	2	3	297	1	0	0	0	0	0	0	0	1	1125	59	3	2		2	ATP13A3	3	194146084	Silent	SNP	A	TCGA-WW-A8ZI-01A-11D-A377-08	155382262	194146084	3876346	6	10920										
EGF	1950	broad.mit.edu	37	chr4	110864507	110864507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	acaggaaggaatcattacagTaacagatatgaaaggaaata	9	4	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.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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	58	76	---	---	---	---	G	110864507	T	G	110864507	3	3	297	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		110864507	80289769	7	10921										
PCDH18	54510	broad.mit.edu	37	chr4	138453022	138453022	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	cgtttactacaagtagaggaGaatttcccctctgcatggct	9	10	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.chr4:138453022G>A	ENST00000344876.4	-	1	607	c.221C>T	c.(220-222)tCt>tTt	p.S74F	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F|PCDH18_ENST00000510305.1_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		Somatic				PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S74F	p.S74F	NM_019035.3	NP_061908.1	WXS	Illumina GAIIx	Phase_I	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	4	146	---	---	---	---	A	138453022	G	A	138453022	3	1	297	1	0	0	0	0	1	0	0	0	11513	942	33	2	3202	2	PCDH18	4	138453022	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	27588515	138453022	52701254	8	10922										
CDH12	1010	broad.mit.edu	37	chr5	21802288	21802288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	tttctcacctaacagcactgCtgcctacatccaggtcttga	6	14	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.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)	Somatic				CDH12_ENST00000504376.2_Missense_Mutation_p.S415N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S375N	p.S415N	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	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	39	32	---	---	---	---	T	21802288	C	T	21802288	3	4	297	1	0	0	0	0	1	0	0	0	3098	797	28	2	1164	2	CDH12	5	21802288	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		21802288	159112972	9	10923										
RAB24	53917	broad.mit.edu	37	chr5	176728925	176728925	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	aaaggctggggaagcacacaCctgtcatcacctggaaggca	12	11	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.chr5:176728925C>G	ENST00000303251.6	-	7	967		c.e7+1		PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site|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			Somatic				RAB24_ENST00000393611.2_Splice_Site|RAB24_ENST00000303251.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	29	44	---	---	---	---	G	176728925	C	G	176728925	5	3	297	1	0	0	0	0	0	0	1	0	12911	521	18	4	71	4	RAB24	5	176728925	Splice_Site	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	154926637	176728925	4186335	10	10924										
BCLAF1	9774	broad.mit.edu	37	chr6	136594312	136594313	+	Frame_Shift_Ins	INS	-	-	TTGAAGTATTGCTCTG													0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	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_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs	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)aagfs		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		Somatic				BCLAF1_ENST00000527759.1_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000392348.2_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000530767.1_Frame_Shift_Ins_p.K449fs|BCLAF1_ENST00000353331.4_Frame_Shift_Ins_p.K620fs|BCLAF1_ENST00000527536.1_Frame_Shift_Ins_p.K622fs	p.K622fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina GAIIx	Phase_I	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	297	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		136594312	34520755	11	10925										
PRSS2	154754	broad.mit.edu	37	chr7	142479980	142479980	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	aggagaattctgtcccctacCaggtgtccttgaattctggc	10	11	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.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			154754							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			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	112	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.552	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		63	131	63	131	---	---	---	---	A	142479980	C	A	142479980	1	1	297	0	1	0	0	0	0	0	0	0	12617	595	21	1		1	PRSS2	7	142479980	RNA	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		142479980	16658683	12	10926										
KIAA1429	25962	broad.mit.edu	37	chr8	95507178	95507178	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	atgacatcagcaagcacataGgcagtcctggaacaagaaaa	9	9	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.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			Somatic				KIAA1429_ENST00000437199.1_3'UTR	p.A1517A	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	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	7	213	---	---	---	---	C	95507178	G	C	95507178	2	2	297	1	0	0	0	0	0	0	0	1	8231	987	35	4		4	KIAA1429	8	95507178	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		95507178	50856844	13	10927										
KANK1	23189	broad.mit.edu	37	chr9	731264	731264	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	cagtttgttggcattaatggAgggtaaggaaagatggtggt	16	2	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.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			Somatic				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	WXS	Illumina GAIIx	Phase_I	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	11	24	---	---	---	---	C	731264	A	C	731264	2	2	297	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	14	10928										
USP20	10868	broad.mit.edu	37	chr9	132630711	132630711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	cccgtcaccacggtcctccaGcccctgccggacgccaggta	10	20	1	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.chr9:132630711G>T	ENST00000315480.4	+	11	1276	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	USP20_ENST00000358355.1_Missense_Mutation_p.S373I|USP20_ENST00000372429.3_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	10868				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		Somatic				USP20_ENST00000372429.3_Missense_Mutation_p.S373I|USP20_ENST00000358355.1_Missense_Mutation_p.S373I	p.S373I			WXS	Illumina GAIIx	Phase_I	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	3	43	---	---	---	---	T	132630711	G	T	132630711	3	4	297	1	0	0	0	0	1	0	0	0	17049	971	34	3	1152	3	USP20	9	132630711	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	131899447	132630711	8582720	15	10929										
CTSC	1075	broad.mit.edu	37	chr11	88068157	88068157	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	acacaatctcaaagccttggTtgtaaatgatggtgaaatgg	10	6	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.chr11:88068157T>A	ENST00000227266.5	-	2	380	c.266A>T	c.(265-267)aAc>aTc	p.N89I	CTSC_ENST00000524463.1_Missense_Mutation_p.N89I|CTSC_ENST00000393301.4_5'UTR|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	29	31	---	---	---	---	A	88068157	T	A	88068157	3	1	297	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		88068157	46938359	16	10930										
GRIN2B	2904	broad.mit.edu	37	chr12	13716213	13716213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	tgtctttcaggcttacgctgCgcggggccagggcggcttct	15	12	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.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																																						ENST00000609686.1																			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		Somatic					p.R1320H	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			13	4168	-								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	49	48	---	---	---	---	T	13716213	C	T	13716213	3	4	297	1	0	0	0	0	1	0	0	0	6780	768	27	2	499	2	GRIN2B	12	13716213	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		13716213	120135682	17	10931										
TWF1	5756	broad.mit.edu	37	chr12	44190803	44190803	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ctaattacatccatttgtagTtgtctttctacaatttctag	4	8	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.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_ENST00000552521.1_Missense_Mutation_p.Q188H|TWF1_ENST00000548315.1_Missense_Mutation_p.Q293H	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	31	36	---	---	---	---	A	44190803	T	A	44190803	3	1	297	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	18	10932										
NAV3	89795	broad.mit.edu	37	chr12	78415542	78415542	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ttcagggcacattcagaaaaTgaaggtaccgctttaccatc	8	10	2	2	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_ENST00000228327.6_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000536525.2_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)	Somatic				NAV3_ENST00000536525.2_Missense_Mutation_p.N641K|NAV3_ENST00000266692.7_Missense_Mutation_p.N641K|NAV3_ENST00000228327.6_Missense_Mutation_p.N641K	p.N641K			WXS	Illumina GAIIx	Phase_I	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	4	91	---	---	---	---	A	78415542	T	A	78415542	3	1	297	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	19	10933										
PSMB11	122706	broad.mit.edu	37	chr14	23511486	23511486	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	cccctgacacccagggaccaTcacctcacctgcctcgggct	8	20	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.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		Somatic					p.S18T	NM_001099780.1	NP_001093250.1	WXS	Illumina GAIIx	Phase_I	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	55	75	---	---	---	---	A	23511486	T	A	23511486	3	1	297	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	20	10934										
MPRIP	23164	broad.mit.edu	37	chr17	17075149	17075149	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	gagaagagaaagaccgcctcCtagccgaggagacagcggcc	14	12	0	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.chr17:17075149C>G	ENST00000341712.4	+	16	2281	c.2281C>G	c.(2281-2283)Cta>Gta	p.L761V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395811.5_Missense_Mutation_p.L761V|MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|RNU6-767P_ENST00000384132.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V			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		Somatic				MPRIP_ENST00000395804.3_Missense_Mutation_p.L761V|MPRIP_ENST00000444976.1_Missense_Mutation_p.L723V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000341712.4_Missense_Mutation_p.L761V	p.L761V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	WXS	Illumina GAIIx	Phase_I	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	21	31	---	---	---	---	G	17075149	C	G	17075149	3	3	297	1	0	0	0	0	1	0	0	0	9743	680	24	4	2343	4	MPRIP	17	17075149	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		17075149	64120061	21	10935										
KRT27	342574	broad.mit.edu	37	chr17	38936652	38936652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	tcagctcatccaggactcttCgcaaaccattgatgtccgcc	7	15	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.chr17:38936652C>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		Somatic					p.R195Q	NM_181537.3	NP_853515.2	WXS	Illumina GAIIx	Phase_I	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	12	31	---	---	---	---	T	38936652	C	T	38936652	3	4	297	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	22	10936										
CDK5RAP3	80279	broad.mit.edu	37	chr17	46054119	46054119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	gtagaggcagtgtctgagggGactgactctggcatctctgc	15	9	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.chr17:46054119G>A	ENST00000338399.4	+	9	946	c.840G>A	c.(838-840)ggG>ggA	p.G280G	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.G305G	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			Somatic				CDK5RAP3_ENST00000338399.4_Silent_p.G280G	p.G305G	NM_001278197.1	NP_001265126.1	WXS	Illumina GAIIx	Phase_I	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	30	7	---	---	---	---	A	46054119	G	A	46054119	2	1	297	1	0	0	0	0	0	0	0	1	3147	1161	41	2		2	CDK5RAP3	17	46054119	Silent	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08	7117467	46054119	35141091	23	10937										
L3MBTL4	91133	broad.mit.edu	37	chr18	6311576	6311576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	gcgtccgtcctgatccaaacGctctttggaatccatattaa	7	12	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.chr18:6311576G>A	ENST00000284898.6	-	3	249	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400104.3_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		Somatic				L3MBTL4_ENST00000284898.6_Missense_Mutation_p.R17C|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R17C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R17C	p.R17C			WXS	Illumina GAIIx	Phase_I	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	18	180	---	---	---	---	A	6311576	G	A	6311576	3	1	297	1	0	0	0	0	1	0	0	0	8594	1087	38	2	1894	2	L3MBTL4	18	6311576	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		6311576	71765672	24	10938										
TCEB3B	51224	broad.mit.edu	37	chr18	44561290	44561290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	tgggctcctgggggccgtcgCgttttctgggaagccccagg	17	12	1	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.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		Somatic				KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A116T	NM_016427.2	NP_057511.2	WXS	Illumina GAIIx	Phase_I	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	4	78	---	---	---	---	T	44561290	C	T	44561290	3	4	297	1	0	0	0	0	1	0	0	0	15679	768	27	2	1919	2	TCEB3B	18	44561290	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08	38249714	44561290	33515958	25	10939										
BRSK1	84446	broad.mit.edu	37	chr19	55805438	55805438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ggatgagaaaaacaacatccGcattgcagacttcggcatgg	11	9	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.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		Somatic				BRSK1_ENST00000590333.1_Missense_Mutation_p.R187H|BRSK1_ENST00000585418.1_Missense_Mutation_p.R171H	p.R171H	NM_032430.1	NP_115806.1	WXS	Illumina GAIIx	Phase_I	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	7	346	---	---	---	---	A	55805438	G	A	55805438	3	1	297	1	0	0	0	0	1	0	0	0	1523	1087	38	2	530	2	BRSK1	19	55805438	Missense_Mutation	SNP	G	TCGA-WW-A8ZI-01A-11D-A377-08		55805438	3323545	26	10940										
PCSK2	5126	broad.mit.edu	37	chr20	17462324	17462324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0740740740740741	2	1	1.16149068322981	0	1.47826086956522	0.333333333333333	1	0	ctacctggagcatgtccaggCtgtcatcacggtcaacgcaa	10	13	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.chr20:17462324C>T	ENST00000262545.2	+	12	1841	c.1526C>T	c.(1525-1527)gCt>gTt	p.A509V	PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V	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		Somatic				PCSK2_ENST00000536609.1_Missense_Mutation_p.A474V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.A490V	p.A509V	NM_002594.3	NP_002585.2	WXS	Illumina GAIIx	Phase_I	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	16	30	---	---	---	---	T	17462324	C	T	17462324	3	4	297	1	0	0	0	0	1	0	0	0	11601	797	28	2	1572	2	PCSK2	20	17462324	Missense_Mutation	SNP	C	TCGA-WW-A8ZI-01A-11D-A377-08		17462324	45563196	27	10941										
MYSM1	114803	broad.mit.edu	37	chr1	59126842	59126842	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	ttaaaatgaagacagcttacTttctgcaaacaagtcaggtc	7	8	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.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.(2326-2328)aaA>aaC		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			Somatic				MYSM1_ENST00000493821.1_5'UTR	p.K776N	NM_001085487.2	NP_001078956.1	WXS	Illumina GAIIx	Phase_I	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.2328A>C	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	5	27	---	---	---	---	G	59126842	T	G	59126842	5	3	298	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	10942										
DISP1	84976	broad.mit.edu	37	chr1	223178296	223178296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	tcccaggggcccaaaatctgAactggagcatgagttttatg	11	9	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.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		Somatic					p.E1186V	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	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	5	59	---	---	---	---	T	223178296	A	T	223178296	3	4	298	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	10943										
LYST	1130	broad.mit.edu	37	chr1	235933474	235933482	+	In_Frame_Del	DEL	AAGTCAGTA	AAGTCAGTA	-													0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	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_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_In_Frame_Del_p.1967_1970LLTC>R			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)ctactgacttgt>cgt		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		Somatic				LYST_ENST00000389793.2_In_Frame_Del_p.1967_1970LLTC>R|LYST_ENST00000536965.1_3'UTR	p.1967_1970LLTC>R			WXS	Illumina GAIIx	Phase_I	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	298	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	10944										
ZNF512	84450	broad.mit.edu	37	chr2	27838080	27838080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	ctaccttcagccaggaagtaCtacataaatggaagacagat	8	9	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.chr2:27838080C>G	ENST00000355467.4	+	11	1260	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V	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		Somatic				ZNF512_ENST00000379717.1_Missense_Mutation_p.L392V|ZNF512_ENST00000416005.2_Missense_Mutation_p.L364V|ZNF512_ENST00000556601.1_Missense_Mutation_p.L262V|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.L316V	p.L393V	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	WXS	Illumina GAIIx	Phase_I	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	3	62	---	---	---	---	G	27838080	C	G	27838080	3	3	298	1	0	0	0	0	1	0	0	0	17953	564	20	4	1219	4	ZNF512	2	27838080	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		27838080	215361293	4	10945										
CDC42EP3	10602	broad.mit.edu	37	chr2	37873410	37873410	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	cctccaatggtcgggagggaGatggcatttttgagcaccgg	15	9	0	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		Somatic				AC006369.2_ENST00000419425.1_RNA	p.I107M	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	WXS	Illumina GAIIx	Phase_I	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	6	53	---	---	---	---	C	37873410	G	C	37873410	3	2	298	1	0	0	0	0	1	0	0	0	3077	932	33	4	447	4	CDC42EP3	2	37873410	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	10035330	37873410	205325963	5	10946										
TSGA10	80705	broad.mit.edu	37	chr2	99681428	99681428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	aacctctctgttgagggaatCtactttttcttttaatctgt	6	8	4	1	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		Somatic				TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y	p.D460Y	NM_025244.2	NP_079520.1	WXS	Illumina GAIIx	Phase_I	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	7	52	---	---	---	---	A	99681428	C	A	99681428	3	1	298	1	0	0	0	0	1	0	0	0	16614	913	32	3	742	3	TSGA10	2	99681428	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	61808018	99681428	143517945	6	10947										
XRN1	54464	broad.mit.edu	37	chr3	142151666	142151666	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	aattctaaagtgaacatcatCatcattaggatgggagcact	8	7	4	1			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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	5	58	---	---	---	---	T	142151666	C	T	142151666	3	4	298	1	0	0	0	0	1	0	0	0	17456	826	29	2	5139	2	XRN1	3	142151666	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		142151666	55870764	7	10948										
CCDC110	256309	broad.mit.edu	37	chr4	186392098	186392098	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	tttacggtctggcgattttaCctgtgtcactgcagccactt	9	11	2	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.chr4:186392098C>G	ENST00000307588.3	-	2	191		c.e2+1		RP11-279O9.4_ENST00000512874.1_5'Flank|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000393540.3_Splice_Site|CCDC110_ENST00000510617.1_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			Somatic				CCDC110_ENST00000393540.3_Splice_Site|CCDC110_ENST00000507501.1_Splice_Site|CCDC110_ENST00000510617.1_Splice_Site		NM_152775.3	NP_689988.1	WXS	Illumina GAIIx	Phase_I	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	35	123	---	---	---	---	G	186392098	C	G	186392098	5	3	298	1	0	0	0	0	0	0	1	0	2747	521	18	4	2409	4	CCDC110	4	186392098	Splice_Site	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		186392098	4762178	8	10949										
RREB1	6239	broad.mit.edu	37	chr6	7240690	7240690	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	ggtcagaaacccttcccttgTcaaaaatgcgatgccttctt	7	12	3	1			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			Somatic				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Nonsense_Mutation_p.C1276*|RREB1_ENST00000349384.6_Intron	p.C1276*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina GAIIx	Phase_I	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	16	77	---	---	---	---	A	7240690	T	A	7240690	1	1	298	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	9	10950										
COL12A1	1303	broad.mit.edu	37	chr6	75884866	75884866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	aatccctgcagcaccgtattGgttgtatctcccctcacagt	7	14	2	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.chr6:75884866G>A	ENST00000322507.8	-	13	2907	c.2598C>T	c.(2596-2598)acC>acT	p.T866T	COL12A1_ENST00000483888.2_Silent_p.T866T|COL12A1_ENST00000416123.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron	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			Somatic				COL12A1_ENST00000483888.2_Silent_p.T866T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T866T	p.T866T	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	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	18	118	---	---	---	---	A	75884866	G	A	75884866	2	1	298	1	0	0	0	0	0	0	0	1	3669	1335	47	2		2	COL12A1	6	75884866	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	68644176	75884866	95230201	10	10951										
CHRM2	1129	broad.mit.edu	37	chr7	136700393	136700393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	gcctggagcacaacaaaatcCagaatggcaaagcccccagg	10	13	0	1			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_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_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		Somatic				hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q261E|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q261E|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA	p.Q261E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	WXS	Illumina GAIIx	Phase_I	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	3	20	---	---	---	---	G	136700393	C	G	136700393	3	3	298	1	0	0	0	0	1	0	0	0	3377	595	21	4	783	4	CHRM2	7	136700393	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08		136700393	22438270	11	10952										
TNNI2	7136	broad.mit.edu	37	chr11	1860932	1860932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	gctcaggacctcaggatgggAgagtaagtggtacccctgta	14	9	2	1			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			Somatic				TNNI2_ENST00000252898.7_Silent_p.G2G|TNNI2_ENST00000381911.1_Silent_p.G2G	p.G2G	NM_001145829.1	NP_001139301.1	WXS	Illumina GAIIx	Phase_I	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	3	21	---	---	---	---	G	1860932	A	G	1860932	2	3	298	1	0	0	0	0	0	0	0	1	16324	291	11	2		2	TNNI2	11	1860932	Silent	SNP	A	TCGA-XA-A8JR-01A-11D-A364-08		1860932	133145584	12	10953										
CD63	967	broad.mit.edu	37	chr12	56120995	56120995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	cagcccacaaaagccaccagGaagaggaagacacccactgc	9	15	0	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.chr12:56120995G>A	ENST00000549117.1	-	3	631	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CD63_ENST00000550776.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000552754.1_Silent_p.F42F|CD63_ENST00000548160.1_5'Flank|CD63_ENST00000420846.3_Silent_p.F65F|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000257857.4_Silent_p.F65F|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552067.1_5'Flank	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	967				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			Somatic				CD63_ENST00000552754.1_Silent_p.F42F|CD63_ENST00000420846.3_Silent_p.F65F|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552692.1_Silent_p.F65F|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000257857.4_Silent_p.F65F	p.F65F	NM_001257389.1	NP_001244318.1	WXS	Illumina GAIIx	Phase_I	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	7	43	---	---	---	---	A	56120995	G	A	56120995	2	1	298	1	0	0	0	0	0	0	0	1	3029	1165	41	2		2	CD63	12	56120995	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		56120995	77730900	13	10954										
MYCBP2	23077	broad.mit.edu	37	chr13	77672530	77672530	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	tttcctgtaccacatggggaGagggagctctattttcagat	11	8	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.chr13:77672530G>C	ENST00000544440.2	-	56	8662	c.8645C>G	c.(8644-8646)tCt>tGt	p.S2882C	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|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		Somatic				MYCBP2_ENST00000360084.5_Missense_Mutation_p.S405C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2882C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2882C|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA	p.S2920C	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	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	9	74	---	---	---	---	C	77672530	G	C	77672530	3	2	298	1	0	0	0	0	1	0	0	0	10018	942	33	4	5389	4	MYCBP2	13	77672530	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		77672530	37497348	14	10955										
CIRH1A	84916	broad.mit.edu	37	chr16	69194305	69194305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	gcagtcagtccagatgggaaTtggctagctgcatcaggtac	13	9	2	1			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_ENST00000563094.1_Silent_p.N497N|CIRH1A_ENST00000352319.4_Silent_p.N382N			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			Somatic				CIRH1A_ENST00000314423.7_Silent_p.N497N|CIRH1A_ENST00000352319.4_Silent_p.N382N	p.N497N			WXS	Illumina GAIIx	Phase_I	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	12	77	---	---	---	---	C	69194305	T	C	69194305	2	2	298	1	0	0	0	0	0	0	0	1	3434	1490	52	2		2	CIRH1A	16	69194305	Silent	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		69194305	21160448	15	10956										
NME1	4830	broad.mit.edu	37	chr17	49239114	49239114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	ttatacatggcagtgattctGtggagagtgcagagaaggag	15	4	1	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|NME2_ENST00000393193.2_Intron|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.V148M	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		Somatic				NME1-NME2_ENST00000393198.3_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.V148M|NME1_ENST00000393196.3_Missense_Mutation_p.V123M|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron	p.V148M	NM_198175.1	NP_937818.1	WXS	Illumina GAIIx	Phase_I			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	9	26	---	---	---	---	A	49239114	G	A	49239114	3	1	298	1	0	0	0	0	1	0	0	0	10489	1377	48	2	460	2	NME1	17	49239114	Missense_Mutation	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08		49239114	31956096	16	10957										
FBN3	84467	broad.mit.edu	37	chr19	8156424	8156424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	gaagctcccagggctgttggTacaggtgccaaagaggcaga	15	9	0	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_ENST00000601739.1_Missense_Mutation_p.T1986A|FBN3_ENST00000270509.2_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		Somatic				FBN3_ENST00000270509.2_Missense_Mutation_p.T1986A|FBN3_ENST00000601739.1_Missense_Mutation_p.T1986A	p.T1986A			WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---	C	8156424	T	C	8156424	3	2	298	1	0	0	0	0	1	0	0	0	5704	1638	57	2	2541	2	FBN3	19	8156424	Missense_Mutation	SNP	T	TCGA-XA-A8JR-01A-11D-A364-08		8156424	50972559	17	10958										
GZF1	64412	broad.mit.edu	37	chr20	23347711	23347711	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	cactcagaaccacatgctgaTttatcataaaaggtgtcaca	6	10	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.chr20:23347711T>A	ENST00000338121.5	+	3	1513	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N	GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000542987.1_Intron			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		Somatic				GZF1_ENST00000461789.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.I479N|GZF1_ENST00000544236.1_Missense_Mutation_p.I3N|GZF1_ENST00000542987.1_Intron	p.I479N			WXS	Illumina GAIIx	Phase_I	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	4	33	---	---	---	---	A	23347711	T	A	23347711	3	1	298	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	18	10959										
RBM12	10137	broad.mit.edu	37	chr20	34242229	34242229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	cattcccattatttcgacctAcatgatctttcaacaaatgc	3	12	2	1			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_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_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		Somatic				RBM12_ENST00000359646.1_Missense_Mutation_p.V339A|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V339A|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_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	WXS	Illumina GAIIx	Phase_I	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	4	83	---	---	---	---	G	34242229	A	G	34242229	3	3	298	1	0	0	0	0	1	0	0	0	13113	391	14	2	1786	2	RBM12	20	34242229	Missense_Mutation	SNP	A	TCGA-XA-A8JR-01A-11D-A364-08	10894518	34242229	28783291	19	10960										
KIAA0406	9675	broad.mit.edu	37	chr20	36640365	36640365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	cagatgttactgttcatggaGcaaatagtgggacttggctt	12	6	1	1			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			Somatic				TTI1_ENST00000373447.3_Silent_p.C618C|TTI1_ENST00000449821.1_Silent_p.C618C|TTI1_ENST00000487362.1_5'UTR	p.C618C	NM_014657.1	NP_055472.1	WXS	Illumina GAIIx	Phase_I	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	4	96	---	---	---	---	A	36640365	G	A	36640365	2	1	298	1	0	0	0	0	0	0	0	1	8173	963	34	2		2	KIAA0406	20	36640365	Silent	SNP	G	TCGA-XA-A8JR-01A-11D-A364-08	2398136	36640365	26385155	20	10961										
KDM6A	7403	broad.mit.edu	37	chrX	44918544	44918545	+	Frame_Shift_Ins	INS	-	-	G													0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	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_ENST00000382899.4_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000536777.1_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)tgtfs		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		Somatic				KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.C343fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.C343fs	p.C343fs	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	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	298	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	21	10962										
SPANXD	64648	broad.mit.edu	37	chrX	140785702	140785702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.65340909090909	2.425	1.01041666666667	1	1	0	gttgattctgttctttcgggCgtggtcattcaccagttcct	10	10	4	1			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		Somatic					p.A72T	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	WXS	Illumina GAIIx	Phase_I					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	5	160	---	---	---	---	T	140785702	C	T	140785702	3	4	298	1	0	0	0	0	1	0	0	0	14988	768	27	2	83	2	SPANXD	23	140785702	Missense_Mutation	SNP	C	TCGA-XA-A8JR-01A-11D-A364-08	95867158	140785702	14484858	22	10963										
PHACTR4	65979	broad.mit.edu	37	chr1	28764899	28764899	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catcagacaatataatcatgGgacaagctgatgtctccaga	8	9	3	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.chr1:28764899G>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			Somatic				PHACTR4_ENST00000493669.1_Intron|PHACTR4_ENST00000373839.3_Intron	p.G2*	NM_023923.3	NP_076412.3	WXS	Illumina GAIIx	Phase_I	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	8	27	---	---	---	---	T	28764899	G	T	28764899	1	4	299	0	1	0	0	0	0	0	0	0	11812	1233	43	1		1	PHACTR4	1	28764899	Intron	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		28764899	220485722	1	10964										
BTBD8	284697	broad.mit.edu	37	chr1	92595245	92595245	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccccctcttccctttaggGccattttgagtgccagatct	7	15	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.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.(664-666)Gcc>Acc		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			Somatic				BTBD8_ENST00000342818.3_Splice_Site_p.A222T|BTBD8_ENST00000540648.1_Splice_Site_p.A222T	p.A222T			WXS	Illumina GAIIx	Phase_I	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.664G>A	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	3	30	---	---	---	---	A	92595245	G	A	92595245	5	1	299	1	0	0	0	0	0	0	1	0	1547	1217	42	2	682	2	BTBD8	1	92595245	Splice_Site	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	63830346	92595245	156655376	2	10965										
FLG2	388698	broad.mit.edu	37	chr1	152324525	152324525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtctcttgtgaactgtggAttctgactctccatgttgag	11	8	3	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_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_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		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1913A	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	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	4	249	---	---	---	---	C	152324525	A	C	152324525	3	2	299	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	3	10966										
VPS24	51652	broad.mit.edu	37	chr2	86790451	86790451	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttgggcggcttctcctgGgtctttccaaacagccccat	9	14	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.chr2:86790451G>C	ENST00000263856.4	-	1	149	c.21C>G	c.(19-21)acC>acG	p.T7T	CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000409225.2_5'UTR	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			Somatic				CHMP3_ENST00000439940.2_Intron|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	p.T7T	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	WXS	Illumina GAIIx	Phase_I					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	5	128	---	---	---	---	C	86790451	G	C	86790451	2	2	299	1	0	0	0	0	0	0	0	1	17192	1219	43	4		4	VPS24	2	86790451	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		86790451	156408922	4	10967										
SLC6A6	6533	broad.mit.edu	37	chr3	14489110	14489110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatcggctatgcctccgttGtaattgtgtccctcctgaat	9	11	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.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		Somatic				SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I	p.V129I			WXS	Illumina GAIIx	Phase_I	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	11	431	---	---	---	---	A	14489110	G	A	14489110	3	1	299	1	0	0	0	0	1	0	0	0	14688	1377	48	2	395	2	SLC6A6	3	14489110	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		14489110	183533320	5	10968										
UGT2B4	7363	broad.mit.edu	37	chr4	70361505	70361505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgtgggccacaccagcacCtttccacaactcccagagct	7	17	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_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000381096.3_Intron	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			Somatic				UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.K25K	p.K25K	NM_021139.2	NP_066962.2	WXS	Illumina GAIIx	Phase_I	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	7	231	---	---	---	---	T	70361505	C	T	70361505	2	4	299	1	0	0	0	0	0	0	0	1	16958	680	24	2		2	UGT2B4	4	70361505	Silent	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		70361505	120792771	6	10969										
HAPLN1	1404	broad.mit.edu	37	chr5	82948496	82948496	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggtaatccgaagttagcTtggtccacttaattcggatt	10	7	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.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		Somatic				HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	p.K83M	NM_001884.3	NP_001875.1	WXS	Illumina GAIIx	Phase_I	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	4	95	---	---	---	---	A	82948496	T	A	82948496	3	1	299	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	7	10970										
PKHD1	5314	broad.mit.edu	37	chr6	51882246	51882251	+	In_Frame_Del	DEL	TGCCCA	TGCCCA	-													0	0	1	0	0	0	1	1	0	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)tgggcadel		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		Somatic				PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	p.WA1853del	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	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	299	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		51882246	119232821	8	10971										
EXT1	2131	broad.mit.edu	37	chr8	118831983	118831983	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	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)ctgfs		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		Somatic					p.L490fs	NM_000127.2	NP_000118.2	WXS	Illumina GAIIx	Phase_I	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	299	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	9	10972										
FCN1	2219	broad.mit.edu	37	chr9	137802991	137802991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acactcacccgcactgccccCgacaaaggctcccagtacca	6	20	1	0	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		Somatic					p.G241R	NM_002003.3	NP_001994.2	WXS	Illumina GAIIx	Phase_I	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	42	136	---	---	---	---	T	137802991	C	T	137802991	3	4	299	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		137802991	3410440	10	10973										
GBF1	8729	broad.mit.edu	37	chr10	104140091	104140091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggacttcatggacaagtAcatgcacgcaggctccagcg	11	12	1	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.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		Somatic					p.Y1654C	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	WXS	Illumina GAIIx	Phase_I	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	20	63	---	---	---	---	G	104140091	A	G	104140091	3	3	299	1	0	0	0	0	1	0	0	0	6271	391	14	2	5103	2	GBF1	10	104140091	Missense_Mutation	SNP	A	TCGA-XJ-A83G-01A-11D-A34U-08		104140091	31394656	11	10974										
C10orf137	26098	broad.mit.edu	37	chr10	127429204	127429204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcattacgatacattaaattAgctttgcaaagccatggtaa	7	7	0	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.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		Somatic				C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F	p.L684F	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	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	30	93	---	---	---	---	C	127429204	A	C	127429204	3	2	299	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	12	10975										
ITPR2	3709	broad.mit.edu	37	chr12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	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)aatfs		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		Somatic					p.N1546fs	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	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	299	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	13	10976										
ACAD10	80724	broad.mit.edu	37	chr12	112186219	112186219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgctcttggttcccatgGataccccagggataaaaatc	9	11	1	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.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		Somatic				ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y	p.D893Y	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	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	17	51	---	---	---	---	T	112186219	G	T	112186219	3	4	299	1	0	0	0	0	1	0	0	0	108	1174	41	3	2743	3	ACAD10	12	112186219	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	85471340	112186219	21665676	14	10977										
AKAP6	9472	broad.mit.edu	37	chr14	33292870	33292870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	attcaaatactgctggcaagGaatttgtttcccaagatgtt	8	7	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.chr14:33292870G>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		Somatic				AKAP6_ENST00000557272.1_Intron	p.E1951K	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	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	15	73	---	---	---	---	A	33292870	G	A	33292870	3	1	299	1	0	0	0	0	1	0	0	0	455	1175	41	2	5897	2	AKAP6	14	33292870	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		33292870	74056670	15	10978										
PAPLN	89932	broad.mit.edu	37	chr14	73719406	73719406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcgaccatgaggcctacccCgaccacatgtgccagcgcca	9	17	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.chr14:73719406C>T	ENST00000554301.1	+	10	1180	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000427855.1_Silent_p.P339P|PAPLN_ENST00000555445.1_Silent_p.P339P|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			Somatic				PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000381166.3_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000555445.1_Silent_p.P339P	p.P339P			WXS	Illumina GAIIx	Phase_I	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	12	50	---	---	---	---	T	73719406	C	T	73719406	2	4	299	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	16	10979										
IGDCC3	9543	broad.mit.edu	37	chr15	65627682	65627682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatactggcgatgtttgagGccacacagtggaagatgcca	14	8	0	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		Somatic					p.A211V	NM_004884.3	NP_004875.2	WXS	Illumina GAIIx	Phase_I	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	8	49	---	---	---	---	A	65627682	G	A	65627682	3	1	299	1	0	0	0	0	1	0	0	0	7568	1203	42	2	1856	2	IGDCC3	15	65627682	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		65627682	36903710	17	10980										
STRA6	64220	broad.mit.edu	37	chr15	74472523	74472523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaccccagcgagccctgccGcggctggccccgggcctagc	14	19	0	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_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000423167.2_Silent_p.R625R|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000395105.4_Silent_p.R634R|STRA6_ENST00000535552.1_Silent_p.R671R	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			Somatic				STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000395105.4_Silent_p.R634R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R	p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	WXS	Illumina GAIIx	Phase_I	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	24	100	---	---	---	---	A	74472523	G	A	74472523	2	1	299	1	0	0	0	0	0	0	0	1	15321	1074	38	2		2	STRA6	15	74472523	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	8844841	74472523	28058869	18	10981										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	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.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_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|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)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_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	WXS	Illumina GAIIx	Phase_I	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	10	136	---	---	---	---	C	47696432	A	C	47696432	3	2	299	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		47696432	33498778	19	10982										
NFKBIB	4793	broad.mit.edu	37	chr19	39395664	39395664	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgtccccagggcactgcaCttggctgtgattcatcagca	10	12	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.chr19:39395664C>G	ENST00000313582.5	+	2	223	c.189C>G	c.(187-189)caC>caG	p.H63Q	NFKBIB_ENST00000392079.3_Intron|NFKBIB_ENST00000572515.1_Missense_Mutation_p.H63Q	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		Somatic				NFKBIB_ENST00000392079.3_Intron|NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q	p.H63Q			WXS	Illumina GAIIx	Phase_I	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	4	212	---	---	---	---	G	39395664	C	G	39395664	3	3	299	1	0	0	0	0	1	0	0	0	10378	564	20	4	195	4	NFKBIB	19	39395664	Missense_Mutation	SNP	C	TCGA-XJ-A83G-01A-11D-A34U-08		39395664	19733319	20	10983										
SUN2	25777	broad.mit.edu	37	chr22	39141779	39141779	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	caggaaaccaaagcagggtgGaatgtctgcagcccataggg	14	9	1	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.chr22:39141779G>A	ENST00000405510.1	-	9	1081	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SUN2_ENST00000216064.4_Silent_p.F241F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Silent_p.F262F|RP3-508I15.22_ENST00000607991.1_RNA	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			Somatic				SUN2_ENST00000216064.4_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.14_ENST00000416406.1_RNA	p.F241F	NM_001199580.1	NP_001186509.1	WXS	Illumina GAIIx	Phase_I	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	4	11	---	---	---	---	A	39141779	G	A	39141779	2	1	299	1	0	0	0	0	0	0	0	1	15389	1165	41	2		2	SUN2	22	39141779	Silent	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08		39141779	12162787	21	10984										
PCDH11X	27328	broad.mit.edu	37	chrX	91090586	91090586	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcgcccaggagaaaaactAcaccatccgagaagaaatgc	10	11	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.chrX:91090586A>T	ENST00000373094.1	+	1	928	c.83A>T	c.(82-84)tAc>tTc	p.Y28F	PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_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		Somatic				PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F	p.Y28F	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	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	15	21	---	---	---	---	T	91090586	A	T	91090586	3	4	299	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		91090586	64179974	22	10985										
MAGEA6	4105	broad.mit.edu	37	chrX	151869898	151869898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggtgacaatcagatcatGcccaagacaggcttcctgat	10	11	2	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.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		Somatic					p.M196I	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	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	43	46	---	---	---	---	T	151869898	G	T	151869898	3	4	299	1	0	0	0	0	1	0	0	0	9170	1319	46	3	590	3	MAGEA6	23	151869898	Missense_Mutation	SNP	G	TCGA-XJ-A83G-01A-11D-A34U-08	60779312	151869898	3400662	23	10986										
CROCC	9696	broad.mit.edu	37	chr1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	cagcggctgcggagcgccaaCgagctcctgagcaggtgccg	16	14	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.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		Somatic				CROCC_ENST00000467938.1_3'UTR	p.N598K	NM_014675.3	NP_055490.3	WXS	Illumina GAIIx	Phase_I	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	3	10	---	---	---	---	A	17266574	C	A	17266574	3	1	300	1	0	0	0	0	1	0	0	0	3893	535	19	3	1844	3	CROCC	1	17266574	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		17266574	231984047	1	10987										
RPL5	6125	broad.mit.edu	37	chr1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-													0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	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)ggcdel		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		Somatic					p.G156del	NM_000969.3	NP_000960.2	WXS	Illumina GAIIx	Phase_I	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	300	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	10988										
ST6GAL2	84620	broad.mit.edu	37	chr2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ccttcatcgccttctgcaggCgcgggttcagcattttggaa	11	12	3	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.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|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		Somatic				ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H	p.R220H	NM_001142351.1	NP_001135823.1	WXS	Illumina GAIIx	Phase_I	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	6	12	---	---	---	---	T	107459775	C	T	107459775	3	4	300	1	0	0	0	0	1	0	0	0	15221	768	27	2	1037	2	ST6GAL2	2	107459775	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		107459775	135739598	3	10989										
SLC25A12	8604	broad.mit.edu	37	chr2	172666119	172666119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ctaacagtaatacttacacaGcctccagcaagaacttctgc	5	13	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.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			Somatic				SLC25A12_ENST00000392592.4_Silent_p.G327G	p.G434G	NM_003705.4	NP_003696.2	WXS	Illumina GAIIx	Phase_I	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	6	126	---	---	---	---	A	172666119	G	A	172666119	2	1	300	1	0	0	0	0	0	0	0	1	14474	958	34	2		2	SLC25A12	2	172666119	Silent	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	65206344	172666119	70533254	4	10990										
IL17RB	55540	broad.mit.edu	37	chr3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ataaaggaacagttgtgctcTgcccacaaacaggcgtccct	9	12	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.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		Somatic					p.C271G	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	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	4	55	---	---	---	---	G	53892809	T	G	53892809	3	3	300	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		53892809	144129621	5	10991										
PRICKLE2	166336	broad.mit.edu	37	chr3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	caggctgcgaactgactctgCgctccggaactgcatggacg	13	13	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.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000476308.1_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		Somatic				PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|PRICKLE2-AS1_ENST00000460946.1_RNA	p.A602T	NM_198859.3	NP_942559.1	WXS	Illumina GAIIx	Phase_I	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	8	106	---	---	---	---	T	64085458	C	T	64085458	3	4	300	1	0	0	0	0	1	0	0	0	12487	768	27	2	734	2	PRICKLE2	3	64085458	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	10192649	64085458	133936972	6	10992										
TXNDC6	347736	broad.mit.edu	37	chr3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	catggttctctcttcatttgTtagaatttcaaacccagctt	5	10	4	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.chr3:138024911T>G	ENST00000333911.3	-	8	598	c.571A>C	c.(571-573)Aca>Cca	p.T191P	NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|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		Somatic				NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P	p.T130P	NM_178130.2	NP_835231.1	WXS	Illumina GAIIx	Phase_I	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	4	69	---	---	---	---	G	138024911	T	G	138024911	3	3	300	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	73939453	138024911	59997519	7	10993										
KIAA0922	23240	broad.mit.edu	37	chr4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	taggaaatcctaattggaatGggagcctttctctggatcaa	10	7	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.chr4:154510059G>A	ENST00000409663.3	+	16	1619	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R|KIAA0922_ENST00000409959.3_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																																						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.(1567-1569)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		Somatic				KIAA0922_ENST00000409959.3_Missense_Mutation_p.G524R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R	p.G523R	NM_015196.3	NP_056011.3	WXS	Illumina GAIIx	Phase_I	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.1567G>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	5	82	---	---	---	---	A	154510059	G	A	154510059	3	1	300	1	0	0	0	0	1	0	0	0	8201	1348	47	2	1632	2	KIAA0922	4	154510059	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		154510059	36644217	8	10994										
HMGCS1	3157	broad.mit.edu	37	chr5	43293008	43293008	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	gcgaagacatctggtgccacAccagttcttgaatcaagcct	9	12	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	CTD-2636A23.2_ENST00000569313.1_RNA|HMGCS1_ENST00000433297.2_Silent_p.G417G	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			Somatic				HMGCS1_ENST00000433297.2_Silent_p.G417G	p.G417G	NM_001098272.2	NP_001091742.1	WXS	Illumina GAIIx	Phase_I	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	13	142	---	---	---	---	T	43293008	A	T	43293008	2	4	300	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	9	10995										
EMB	133418	broad.mit.edu	37	chr5	49706712	49706712	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tcaagttattaatactgaccTttgaaattaaatgttcccct	4	8	1	2	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.(469-471)aaA>aaT		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			Somatic				EMB_ENST00000514111.1_Splice_Site_p.K107N|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103N	p.K157N	NM_198449.2	NP_940851.1	WXS	Illumina GAIIx	Phase_I	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.471A>T	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	3	27	---	---	---	---	A	49706712	T	A	49706712	5	1	300	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	10	10996										
F2R	2149	broad.mit.edu	37	chr5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ccatgcagtccctctcctggCgtactctgggaagggcttcc	11	15	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.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		Somatic					p.R214C	NM_001992.3	NP_001983.2	WXS	Illumina GAIIx	Phase_I	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	6	139	---	---	---	---	T	76028690	C	T	76028690	3	4	300	1	0	0	0	0	1	0	0	0	5343	768	27	2	646	2	F2R	5	76028690	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	26321978	76028690	104886570	11	10997										
CHD1	1105	broad.mit.edu	37	chr5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-													0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	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)ggttatfs		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		Somatic					p.GY405fs	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	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	300	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	12	10998										
FBN2	2201	broad.mit.edu	37	chr5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	gcgtgttgacacataggccaTtgacacagtttataggatct	10	8	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.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		Somatic				FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S	p.N1544S			WXS	Illumina GAIIx	Phase_I	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	11	189	---	---	---	---	C	127653927	T	C	127653927	3	2	300	1	0	0	0	0	1	0	0	0	5703	1493	52	2	4227	2	FBN2	5	127653927	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	29419818	127653927	53261333	13	10999										
RAPGEF6	51735	broad.mit.edu	37	chr5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	gaacagcatgaaaaactactTctttagctgtggtgtcttta	8	7	2	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.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G	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		Somatic				RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G	p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	WXS	Illumina GAIIx	Phase_I	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	15	43	---	---	---	---	C	130799890	T	C	130799890	3	2	300	1	0	0	0	0	1	0	0	0	13048	1783	62	2	2992	2	RAPGEF6	5	130799890	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08	3145963	130799890	50115370	14	11000										
NOTCH4	4855	broad.mit.edu	37	chr6	32180342	32180342	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	cacaagcagtggaaggagggCccagtctggaggcagtggga	18	8	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.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			Somatic				NOTCH4_ENST00000465528.1_5'UTR	p.G863G	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	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	7	67	---	---	---	---	A	32180342	C	A	32180342	2	1	300	1	0	0	0	0	0	0	0	1	10551	726	26	3		3	NOTCH4	6	32180342	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		32180342	138934725	15	11001										
CUL9	23113	broad.mit.edu	37	chr6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	agaagggtccaaatcctcctGgaaccctgggccacactgtt	10	13	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.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R|RP3-330M21.5_ENST00000500590.1_RNA|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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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	31	57	---	---	---	---	C	43182853	G	C	43182853	3	2	300	1	0	0	0	0	1	0	0	0	4061	1349	47	4	5839	4	CUL9	6	43182853	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08	11002511	43182853	127932214	16	11002										
SLC26A4	5172	broad.mit.edu	37	chr7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	agtgaagattcttagattttCcagtcctattttctatggca	7	7	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.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y	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		Somatic				SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y	p.S551Y	NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	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	5	60	---	---	---	---	A	107340565	C	A	107340565	3	1	300	1	0	0	0	0	1	0	0	0	14519	855	30	3	1706	3	SLC26A4	7	107340565	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		107340565	51798098	17	11003										
SULF1	23213	broad.mit.edu	37	chr8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tgatacattcctagtggaaaGagggtaattattggttcctg	11	5	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.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		Somatic				SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T	p.R415T	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	C	70515888	G	C	70515888	3	2	300	1	0	0	0	0	1	0	0	0	15369	942	33	4	1274	4	SULF1	8	70515888	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		70515888	75848134	18	11004										
DKK1	22943	broad.mit.edu	37	chr10	54076405	54076405	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tccaagatctgtaaacctgtCctgaaagaaggtcaagtgtg	10	8	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.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			Somatic					p.V213V	NM_012242.2	NP_036374.1	WXS	Illumina GAIIx	Phase_I	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	4	89	---	---	---	---	A	54076405	C	A	54076405	2	1	300	1	0	0	0	0	0	0	0	1	4544	842	30	3		3	DKK1	10	54076405	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		54076405	81458342	19	11005										
OR5T1	390155	broad.mit.edu	37	chr11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	atttagcctgtccttctgtgGatccaatgaaattaggcatg	9	8	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.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		Somatic					p.G182E	NM_001004745.1	NP_001004745.1	WXS	Illumina GAIIx	Phase_I	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	38	220	---	---	---	---	A	56043659	G	A	56043659	3	1	300	1	0	0	0	0	1	0	0	0	11181	1174	41	2	547	2	OR5T1	11	56043659	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		56043659	78962857	20	11006										
ZNF202	7753	broad.mit.edu	37	chr11	123597404	123597404	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ttctctcctgtgtgagtcctCaggtgtctaacaaggtggga	12	9	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.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			Somatic				ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L	p.L416L			WXS	Illumina GAIIx	Phase_I	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	12	104	---	---	---	---	A	123597404	C	A	123597404	2	1	300	1	0	0	0	0	0	0	0	1	17760	813	29	3		3	ZNF202	11	123597404	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	67553745	123597404	11409112	21	11007										
RILPL2	196383	broad.mit.edu	37	chr12	123915096	123915096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tcctgcaccaccaggagctgCgacttgagtttgttgcgttc	11	12	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.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			Somatic					p.S150S	NM_145058.1	NP_659495.1	WXS	Illumina GAIIx	Phase_I	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	4	99	---	---	---	---	T	123915096	C	T	123915096	2	4	300	1	0	0	0	0	0	0	0	1	13362	755	27	2		2	RILPL2	12	123915096	Silent	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		123915096	9936799	22	11008										
ZNF664	144348	broad.mit.edu	37	chr12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tcatatatcagaacttcataTtcattggagagaccatacag	6	8	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.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_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		Somatic				ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S|ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|FAM101A_ENST00000545615.1_Intron	p.I48S			WXS	Illumina GAIIx	Phase_I	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	13	86	---	---	---	---	G	124496834	T	G	124496834	3	3	300	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	23	11009										
CEBPE	1053	broad.mit.edu	37	chr14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	tgccatgtactccagcacctTctgctgcgtctccagaatgc	8	15	2	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.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		Somatic					p.K235E	NM_001805.3	NP_001796.2	WXS	Illumina GAIIx	Phase_I	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	7	53	---	---	---	---	C	23586839	T	C	23586839	3	2	300	1	0	0	0	0	1	0	0	0	3202	1792	62	2	146	2	CEBPE	14	23586839	Missense_Mutation	SNP	T	TCGA-XJ-A83H-01A-11D-A34U-08		23586839	83762701	24	11010										
IFT140	9742	broad.mit.edu	37	chr16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	cagcagctcccgccgcgactCctcaggcaggtccgaggagt	13	16	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.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		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	p.E1186Q	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	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	7	12	---	---	---	---	G	1570707	C	G	1570707	3	3	300	1	0	0	0	0	1	0	0	0	7556	864	30	4	852	4	IFT140	16	1570707	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08		1570707	88784046	25	11011										
DNAH3	55567	broad.mit.edu	37	chr16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	cagatactgacttgttgagaAgagtctggtgtgcctccagg	13	8	1	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.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		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R|CTC-508F8.1_ENST00000575612.1_RNA	p.L400R	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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	4	97	---	---	---	---	C	21139017	A	C	21139017	3	2	300	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	26	11012										
EFCAB5	374786	broad.mit.edu	37	chr17	28380700	28380700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	agagagtcaactacagaacaAggacagcacaaagggtcaat	10	8	2	2	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_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q|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			Somatic				EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	p.Q576Q	NM_198529.3	NP_940931	WXS	Illumina GAIIx	Phase_I	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	5	101	---	---	---	---	G	28380700	A	G	28380700	2	3	300	1	0	0	0	0	0	0	0	1	4938	69	3	2		2	EFCAB5	17	28380700	Silent	SNP	A	TCGA-XJ-A83H-01A-11D-A34U-08		28380700	52814510	27	11013										
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-													0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	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	CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	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.(439-444)tctgta>tta		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			Somatic				DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	p.SV147fs	NM_004396.3	NP_004387.1	WXS	Illumina GAIIx	Phase_I	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		147			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.440_442delCTGT	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	300	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	34119399	62500099	18695111	28	11014										
CYGB	114757	broad.mit.edu	37	chr17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	cttgaagtacaccggttccaCcttgtgcttgagggcgtggg	14	10	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.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M	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		Somatic				CYGB_ENST00000590175.1_Missense_Mutation_p.V54M|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M	p.V119M	NM_134268.4	NP_599030.1	WXS	Illumina GAIIx	Phase_I	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	16	38	---	---	---	---	T	74527562	C	T	74527562	3	4	300	1	0	0	0	0	1	0	0	0	4139	507	18	2	229	2	CYGB	17	74527562	Missense_Mutation	SNP	C	TCGA-XJ-A83H-01A-11D-A34U-08	12027463	74527562	6667648	29	11015										
WDR7	23335	broad.mit.edu	37	chr18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ctaacctcttggcttctgagGcatctgacaaggtaagtttt	9	9	3	2	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_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A660T	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		Somatic				WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A660T	p.A660T	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	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	4	67	---	---	---	---	A	54398817	G	A	54398817	3	1	300	1	0	0	0	0	1	0	0	0	17317	1203	42	2	2028	2	WDR7	18	54398817	Missense_Mutation	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		54398817	23678431	30	11016										
SMCR7L	54471	broad.mit.edu	37	chr22	39908032	39908032	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.032258064516129	1	1	0.550961538461539	1.790625	0	1	1	0	ctcctccaccttcgacacagGtgagaagggctgctgcccct	10	16	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.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)								c.e4+1		mitochondrial elongation factor 1							58	65	63					22																	39908032		2203	4300	6503	SO:0001630	splice_region_variant	54471							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			Somatic				MIEF1_ENST00000404569.1_Splice_Site|MIEF1_ENST00000402881.1_Splice_Site		NM_019008.4	NP_061881.2	WXS	Illumina GAIIx	Phase_I					4	746	+								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	5	46	---	---	---	---	C	39908032	G	C	39908032	5	2	300	1	0	0	0	0	0	0	1	0	14791	1275	44	4	329	4	SMCR7L	22	39908032	Splice_Site	SNP	G	TCGA-XJ-A83H-01A-11D-A34U-08		39908032	11396534	31	11017										
TAF13	6884	broad.mit.edu	37	chr1	109608797	109608797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	tgacaagatcttcaagaataTccactgactcagtataagga	7	8	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.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		Somatic					p.D55G	NM_005645.3	NP_005636.1	WXS	Illumina GAIIx	Phase_I	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	8	102	---	---	---	---	C	109608797	T	C	109608797	3	2	301	1	0	0	0	0	1	0	0	0	15514	1435	50	2	218	2	TAF13	1	109608797	Missense_Mutation	SNP	T	TCGA-XJ-A9DI-01A-11D-A377-08		109608797	139641824	1	11018										
C1orf9	51430	broad.mit.edu	37	chr1	172555033	172555033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	ctgagaatgccactgccacaGctgcacctaaaatgcctgaa	8	13	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.chr1:172555033G>A	ENST00000263688.3	+	17	1822	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	SUCO_ENST00000367723.4_Missense_Mutation_p.A686T|SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T	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																																						ENST00000367723.4																			0											c.(2056-2058)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		Somatic				SUCO_ENST00000263688.3_Missense_Mutation_p.A535T|SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T	p.A686T	NM_016227.2	NP_057311.3	WXS	Illumina GAIIx	Phase_I					16	2180	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2056G>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	5	127	---	---	---	---	A	172555033	G	A	172555033	3	1	301	1	0	0	0	0	1	0	0	0	2067	971	34	2	1669	2	C1orf9	1	172555033	Missense_Mutation	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08	62946236	172555033	76695588	2	11019										
DOCK2	1794	broad.mit.edu	37	chr5	169504824	169504824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	tctgactgcagcacccccagCaagcctacctcagagaggtc	9	16	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.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		Somatic				DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R|DOCK2_ENST00000523351.1_3'UTR	p.S1659R	NM_004946.2	NP_004937.1	WXS	Illumina GAIIx	Phase_I	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	3	29	---	---	---	---	A	169504824	C	A	169504824	3	1	301	1	0	0	0	0	1	0	0	0	4687	709	25	3	5167	3	DOCK2	5	169504824	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		169504824	11410436	3	11020										
BCLAF1	9774	broad.mit.edu	37	chr6	136599066	136599066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	catcaggataaaacgaggaaCggcccctagactcatctctt	8	12	3	1	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_ENST00000353331.4_Missense_Mutation_p.R316H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H	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		Somatic				BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H	p.R318H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina GAIIx	Phase_I	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	4	159	---	---	---	---	T	136599066	C	T	136599066	3	4	301	1	0	0	0	0	1	0	0	0	1383	536	19	2	1849	2	BCLAF1	6	136599066	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		136599066	34516001	4	11021										
TNS3	64759	broad.mit.edu	37	chr7	47408548	47408548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	actgagggctttctcagcagGggctggggctgcttgggctc	17	10	1	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.chr7:47408548G>A	ENST00000398879.1	-	17	2061	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	TNS3_ENST00000355730.3_Silent_p.P325P|TNS3_ENST00000311160.9_Silent_p.P565P			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			Somatic				TNS3_ENST00000311160.9_Silent_p.P565P|TNS3_ENST00000355730.3_Silent_p.P325P	p.P565P			WXS	Illumina GAIIx	Phase_I	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	5	75	---	---	---	---	A	47408548	G	A	47408548	2	1	301	1	0	0	0	0	0	0	0	1	16341	1219	43	2		2	TNS3	7	47408548	Silent	SNP	G	TCGA-XJ-A9DI-01A-11D-A377-08		47408548	111730115	5	11022										
HSPB1	3315	broad.mit.edu	37	chr7	75933153	75933153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	cggcaggacgagcatggctaCatctcccggtgcttcacgcg	13	14	2	0	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			Somatic				HSPB1_ENST00000429938.1_5'UTR	p.Y133Y	NM_001540.3	NP_001531.1	WXS	Illumina GAIIx	Phase_I	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	4	71	---	---	---	---	T	75933153	C	T	75933153	2	4	301	1	0	0	0	0	0	0	0	1	7418	489	17	2		2	HSPB1	7	75933153	Silent	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	28524605	75933153	83205510	6	11023										
CYP7A1	1581	broad.mit.edu	37	chr8	59412637	59412637	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	gctgctatagcaatcccccaAatcaaagatgtggtcatcat	7	11	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.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			Somatic					p.I7I	NM_000780.3	NP_000771.2	WXS	Illumina GAIIx	Phase_I	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	7	104	---	---	---	---	T	59412637	A	T	59412637	2	4	301	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		59412637	86951385	7	11024										
CHD7	55636	broad.mit.edu	37	chr8	61655594	61655594	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	cacctccacaccctcatcacCagccttgggcacagctccac	5	21	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.chr8:61655594C>T	ENST00000423902.2	+	2	2082	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_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*		Somatic				CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*	p.Q535*	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	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	6	24	---	---	---	---	T	61655594	C	T	61655594	4	4	301	1	0	0	0	0	0	1	0	0	3330	595	21	2	1605	2	CHD7	8	61655594	Nonsense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08	2242957	61655594	84708428	8	11025										
C10orf28	27291	broad.mit.edu	37	chr10	99968462	99968462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	catgaacctgatggggaagcAtttgaagacaaagatttgga	12	5	0	5			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_ENST00000370584.3_Silent_p.A197A|R3HCC1L_ENST00000314594.5_5'UTR	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			Somatic				R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.A197A	p.A197A	NM_014472.4	NP_055287	WXS	Illumina GAIIx	Phase_I					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	8	81	---	---	---	---	G	99968462	A	G	99968462	2	3	301	1	0	0	0	0	0	0	0	1	1601	204	8	2		2	C10orf28	10	99968462	Silent	SNP	A	TCGA-XJ-A9DI-01A-11D-A377-08		99968462	35566285	9	11026										
GTF2H3	2967	broad.mit.edu	37	chr12	124118414	124118414	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	tgctgggacagccatggtttCagacggtgaggaccctgcag	15	10	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.chr12:124118414C>T	ENST00000543341.2	+	1	39	c.8C>T	c.(7-9)tCa>tTa	p.S3L	EIF2B1_ENST00000424014.2_5'Flank|EIF2B1_ENST00000539951.1_5'Flank|EIF2B1_ENST00000543940.1_5'Flank|GTF2H3_ENST00000228955.7_5'UTR|EIF2B1_ENST00000537073.1_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		Somatic				GTF2H3_ENST00000228955.7_5'UTR	p.S3L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	WXS	Illumina GAIIx	Phase_I	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	8	90	---	---	---	---	T	124118414	C	T	124118414	3	4	301	1	0	0	0	0	1	0	0	0	6864	838	29	2	10	2	GTF2H3	12	124118414	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		124118414	9733481	10	11027										
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	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.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'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	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)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	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	4	84	---	---	---	---	T	7578413	C	T	7578413	3	4	301	1	0	0	0	0	1	0	0	0	16378	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		7578413	73616797	11	11028										
WNK4	65266	broad.mit.edu	37	chr17	40937388	40937388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	cgagaagccgggcctcaagcTctggctgcgcatggaggacg	16	12	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.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		Somatic				WNK4_ENST00000587705.1_3'UTR	p.L455P	NM_032387.4	NP_115763.2	WXS	Illumina GAIIx	Phase_I	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	5	11	---	---	---	---	C	40937388	T	C	40937388	3	2	301	1	0	0	0	0	1	0	0	0	17377	1551	54	2	1386	2	WNK4	17	40937388	Missense_Mutation	SNP	T	TCGA-XJ-A9DI-01A-11D-A377-08	33358975	40937388	40257822	12	11029										
MCAT	27349	broad.mit.edu	37	chr22	43529100	43529100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	0.911585365853659	NA	0.911585365853659	1	1	0	acatgttcgagggtctgcagCacatccacggcgctgtagga	13	11	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.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																																						ENST00000290429.6																			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			Somatic				MCAT_ENST00000327555.5_3'UTR	p.V374V	NM_173467.4	NP_775738.3	WXS	Illumina GAIIx	Phase_I	Q8IVS2	FABD_HUMAN			4	1167	-		Ovarian(80;0.0694)						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	14	199	---	---	---	---	T	43529100	C	T	43529100	2	4	301	1	0	0	0	0	0	0	0	1	9372	697	25	2		2	MCAT	22	43529100	Silent	SNP	C	TCGA-XJ-A9DI-01A-11D-A377-08		43529100	7775466	13	11030										
CHCHD6	84303	broad.mit.edu	37	chr3	126445989	126445989	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctgctcccacatcttctacCtttggccttcaagatggcaa	6	15	3	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.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			Somatic				CHCHD6_ENST00000290913.3_Silent_p.T52T	p.T52T			WXS	Illumina GAIIx	Phase_I	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	4	129	---	---	---	---	A	126445989	C	A	126445989	2	1	302	1	0	0	0	0	0	0	0	1	3320	668	24	1		1	CHCHD6	3	126445989	Silent	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		126445989	71576441	1	11031										
HIST1H2AD	3013	broad.mit.edu	37	chr6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctggatgttgggcagaacacCgccctgagcaattgtgactt	12	10	0	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_ENST00000377831.5_5'UTR|HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	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		Somatic				HIST1H3D_ENST00000377831.5_5'UTR	p.G107C	NM_021065.2	NP_066409.1	WXS	Illumina GAIIx	Phase_I	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	4	137	---	---	---	---	A	26199153	C	A	26199153	3	1	302	1	0	0	0	0	1	0	0	0	7131	652	23	1	77	1	HIST1H2AD	6	26199153	Missense_Mutation	SNP	C	TCGA-XJ-A9DK-01A-11D-A377-08		26199153	144915914	2	11032										
ARID1B	57492	broad.mit.edu	37	chr6	157502129	157502129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agctcctccaccactactggGgagaagatcacgaaggtgta	11	11	1	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_ENST00000346085.5_Silent_p.G1054G|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000367148.1_Silent_p.G1094G	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			Somatic				ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G	p.G1054G	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	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	3	46	---	---	---	---	A	157502129	G	A	157502129	2	1	302	1	0	0	0	0	0	0	0	1	914	1219	43	2		2	ARID1B	6	157502129	Silent	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08	131302976	157502129	13612938	3	11033										
MKRN1	23608	broad.mit.edu	37	chr7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcactctcccactgcagcaTaggggcacagctgcttcttt	10	14	2	0			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_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000480552.1_Intron	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		Somatic				MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron	p.Y216C	NM_013446.3	NP_038474.2	WXS	Illumina GAIIx	Phase_I	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	4	146	---	---	---	---	C	140158931	T	C	140158931	3	2	302	1	0	0	0	0	1	0	0	0	9606	1406	49	2	825	2	MKRN1	7	140158931	Missense_Mutation	SNP	T	TCGA-XJ-A9DK-01A-11D-A377-08		140158931	18979732	4	11034										
CTSL1	1514	broad.mit.edu	37	chr9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgaggcccccagatctgtgGattggagagagaaaggctac	14	8	1	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.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|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		Somatic				CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y	p.D119Y			WXS	Illumina GAIIx	Phase_I					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	6	69	---	---	---	---	T	90343270	G	T	90343270	3	4	302	1	0	0	0	0	1	0	0	0	4038	1174	41	3	365	3	CTSL1	9	90343270	Missense_Mutation	SNP	G	TCGA-XJ-A9DK-01A-11D-A377-08		90343270	50870161	5	11035										
SYT10	341359	broad.mit.edu	37	chr12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	attttggaggcattatggtgTggaaggtggtttaggagaag	17	1	0	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.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		Somatic				SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	p.T522S	NM_198992.3	NP_945343.1	WXS	Illumina GAIIx	Phase_I	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	3	40	---	---	---	---	A	33529773	T	A	33529773	3	1	302	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	6	11036										
AHDC1	27245	broad.mit.edu	37	chr1	27874315	27874315	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	caggtgggcctgggctgcagCtgcgtggcccaggctggccc	18	14	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:27874315C>G	ENST00000247087.5	-	5	4908	c.4312G>C	c.(4312-4314)Gct>Cct	p.A1438P	AHDC1_ENST00000374011.2_Missense_Mutation_p.A1438P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1438							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)		TGGGCTGCAGCTGCGTGGCCC	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.(4312-4314)Gct>Cct		AT hook, DNA binding motif, containing 1							9	11	10					1																	27874315		2177	4251	6428	SO:0001583	missense	27245						DNA binding	g.chr1:27874315C>G	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.4312G>C	1.37:g.27874315C>G	ENSP00000247087:p.Ala1438Pro		Somatic				AHDC1_ENST00000247087.5_Missense_Mutation_p.A1438P	p.A1438P	NM_001029882.2	NP_001025053.1	WXS	Illumina GAIIx	Phase_I	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	5280	-		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)	1438					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4312G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424213	0.25639	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.48522	0.81;0.81	4.97	2.98	0.34508	.	0.218410	0.38605	N	0.001631	T	0.20292	0.0488	N	0.03608	-0.345	0.20638	N	0.999878	B	0.12013	0.005	B	0.10450	0.005	T	0.05666	-1.0871	10	0.45353	T	0.12	-6.1228	4.929	0.13907	0.1501:0.6161:0.1461:0.0877	.	1438	Q5TGY3	AHDC1_HUMAN	P	1438	ENSP00000247087:A1438P;ENSP00000363123:A1438P	ENSP00000247087:A1438P	A	-	1	0	AHDC1	27746902	0.076000	0.21285	0.947000	0.38551	0.951000	0.60555	0.321000	0.19558	2.500000	0.84329	0.655000	0.94253	GCT		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			3	19	3	19	---	---	---	---	G	27874315	C	G	27874315	3	3	303	1	0	0	0	0	1	0	0	0	412	797	28	4	503	4	AHDC1	1	27874315	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		27874315	221376306	1	11037										
SCMH1	22955	broad.mit.edu	37	chr1	41512096	41512096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tacctggtaggtacctgtcgTggctgtggctgtactctatg	13	9	1	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:41512096T>C	ENST00000326197.7	-	11	1750	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R|SCMH1_ENST00000402904.2_Missense_Mutation_p.H484R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R					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)				GTACCTGTCGTGGCTGTGGCT	0.582																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1450-1452)cAc>cGc		sex comb on midleg homolog 1 (Drosophila)							99	81	87					1																	41512096		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.chr1:41512096T>C	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.1451A>G	1.37:g.41512096T>C	ENSP00000318094:p.His484Arg		Somatic				SCMH1_ENST00000397174.2_Missense_Mutation_p.H464R|SCMH1_ENST00000372597.1_Missense_Mutation_p.H437R|SCMH1_ENST00000326197.7_Missense_Mutation_p.H484R|SCMH1_ENST00000372596.1_Missense_Mutation_p.H423R|SCMH1_ENST00000456518.2_Missense_Mutation_p.H326R|SCMH1_ENST00000361191.5_Missense_Mutation_p.H423R|SCMH1_ENST00000397171.2_Missense_Mutation_p.H423R|SCMH1_ENST00000337495.5_Missense_Mutation_p.H494R|SCMH1_ENST00000372595.1_Missense_Mutation_p.H423R|SCMH1_ENST00000361705.3_Missense_Mutation_p.H437R	p.H484R	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			12	1819	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	484						Missense_Mutation	SNP	ENST00000326197.7	37	c.1451A>G	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	T	7.222	0.597513	0.13875	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.21191	2.36;2.02;2.38;2.35;2.35;2.35;2.36;2.35;2.35;2.39;2.38	5.03	5.03	0.67393	.	0.312152	0.29737	N	0.011329	T	0.25419	0.0618	N	0.14661	0.345	0.39672	D	0.97076	B;D;B;B	0.53462	0.244;0.96;0.002;0.002	B;D;B;B	0.66979	0.074;0.948;0.004;0.002	T	0.07947	-1.0746	10	0.13470	T	0.59	.	14.0391	0.64663	0.0:0.0:0.0:1.0	.	326;494;437;484	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	R	437;326;484;464;423;423;437;423;494;423;484	ENSP00000354996:H437R;ENSP00000403974:H326R;ENSP00000386079:H484R;ENSP00000380359:H464R;ENSP00000380356:H423R;ENSP00000354656:H423R;ENSP00000361678:H437R;ENSP00000361677:H423R;ENSP00000337352:H494R;ENSP00000361676:H423R;ENSP00000318094:H484R	ENSP00000318094:H484R	H	-	2	0	SCMH1	41284683	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.061000	0.57485	2.246000	0.74042	0.533000	0.62120	CAC		0.582	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			15	22	15	22	---	---	---	---	C	41512096	T	C	41512096	3	2	303	1	0	0	0	0	1	0	0	0	13908	1696	59	2	551	2	SCMH1	1	41512096	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	13637781	41512096	207738525	2	11038										
C1orf156	92342	broad.mit.edu	37	chr1	169762232	169762232	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ctcccttgaatgcagttataCctagtaaacctgatccacaa	5	12	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:169762232C>G	ENST00000310392.4	-	2	958	c.605G>C	c.(604-606)gGt>gCt	p.G202A	C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	202						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TGCAGTTATACCTAGTAAACC	0.393																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(604-606)gGt>gCt		methyltransferase like 18							125	127	126					1																	169762232		2203	4299	6502	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762232C>G	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.605G>C	1.37:g.169762232C>G	ENSP00000307975:p.Gly202Ala		Somatic				C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.G202A	p.G202A	NM_033418.2	NP_219486.1	WXS	Illumina GAIIx	Phase_I	O95568	MET18_HUMAN			2	958	-			202					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.605G>C	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075794	0.76415	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.70986	-0.53;-0.53	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	N	0.21097	0.63	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.72350	-0.4320	10	0.46703	T	0.11	-0.4269	18.9761	0.92736	0.0:1.0:0.0:0.0	.	202	O95568	MET18_HUMAN	A	202	ENSP00000307975:G202A;ENSP00000307077:G202A	ENSP00000307077:G202A	G	-	2	0	METTL18	168028856	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.400000	0.79949	2.824000	0.97209	0.655000	0.94253	GGT		0.393	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		47	59	47	59	---	---	---	---	G	169762232	C	G	169762232	3	3	303	1	0	0	0	0	1	0	0	0	2006	507	18	4	517	4	C1orf156	1	169762232	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	128250136	169762232	79488389	3	11039										
SLC9A11	284525	broad.mit.edu	37	chr1	173556924	173556924	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttttataacgacatatccaaTtatgatgcttgctgtagaaa	6	6	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:173556924T>A	ENST00000367714.3	-	5	825	c.403A>T	c.(403-405)Att>Ttt	p.I135F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	135					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATATCCAATTATGATGCTT	0.348																																						ENST00000367714.3																			0											c.(403-405)Att>Ttt		solute carrier family 9, member C2 (putative)							96	97	97					1																	173556924		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173556924T>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.403A>T	1.37:g.173556924T>A	ENSP00000356687:p.Ile135Phe		Somatic				SLC9C2_ENST00000536496.1_Missense_Mutation_p.I33F|RP3-436N22.3_ENST00000431459.1_RNA	p.I135F	NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	Q5TAH2	S9A11_HUMAN			5	825	-			135					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.403A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065895	0.36470	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06849	3.25;3.25	5.59	-3.23	0.05109	Cation/H+ exchanger (1);	1.215380	0.05835	N	0.618268	T	0.03220	0.0094	L	0.44542	1.39	0.09310	N	1	P	0.34562	0.457	B	0.36989	0.238	T	0.34675	-0.9819	10	0.72032	D	0.01	-2.8421	11.1994	0.48733	0.0:0.0679:0.5431:0.3889	.	135	Q5TAH2	S9A11_HUMAN	F	135;33	ENSP00000356687:I135F;ENSP00000445437:I33F	ENSP00000356687:I135F	I	-	1	0	SLC9A11	171823547	0.339000	0.24784	0.000000	0.03702	0.003000	0.03518	0.338000	0.19858	-1.388000	0.02092	-1.795000	0.00624	ATT		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	115	8	115	---	---	---	---	A	173556924	T	A	173556924	3	1	303	1	0	0	0	0	1	0	0	0	14711	1493	52	5	3067	5	SLC9A11	1	173556924	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	3794692	173556924	75693697	4	11040										
PAPPA2	60676	broad.mit.edu	37	chr1	176564355	176564355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tctgtgatgatgagggcctaAaccccattgtgagtgaggag	14	7	1	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:176564355A>T	ENST00000367662.3	+	3	2779	c.1615A>T	c.(1615-1617)Aac>Tac	p.N539Y	PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	539	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						TGAGGGCCTAAACCCCATTGT	0.542																																						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.(1615-1617)Aac>Tac		pappalysin 2							57	60	59					1																	176564355		2127	4235	6362	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564355A>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.1615A>T	1.37:g.176564355A>T	ENSP00000356634:p.Asn539Tyr		Somatic				PAPPA2_ENST00000367661.3_Missense_Mutation_p.N539Y	p.N539Y	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2779	+			539			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1615A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	2.967	-0.213352	0.06140	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.48201	0.82;0.82	5.1	0.228	0.15364	.	0.697746	0.14372	N	0.323760	T	0.39572	0.1083	M	0.65975	2.015	0.09310	N	1	B;P	0.35923	0.217;0.528	B;B	0.34385	0.181;0.074	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.8341	4.2006	0.10464	0.3805:0.4354:0.0921:0.0919	.	539;539	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Y	539	ENSP00000356634:N539Y;ENSP00000356633:N539Y	ENSP00000356633:N539Y	N	+	1	0	PAPPA2	174830978	0.002000	0.14202	0.013000	0.15412	0.000000	0.00434	0.448000	0.21726	0.031000	0.15407	-1.158000	0.01797	AAC		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	19	14	19	---	---	---	---	T	176564355	A	T	176564355	3	4	303	1	0	0	0	0	1	0	0	0	11433	14	1	5	1621	5	PAPPA2	1	176564355	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	3007431	176564355	72686266	5	11041										
OBSCN	84033	broad.mit.edu	37	chr1	228412361	228412361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	caggctggttgtgcagcaggCaggccaggcggatgccgggg	20	10	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:228412361C>G	ENST00000422127.1	+	9	2899	c.2855C>G	c.(2854-2856)gCa>gGa	p.A952G	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1044G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	952	Ig-like 9.			A -> V (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)				GTGCAGCAGGCAGGCCAGGCG	0.602																																						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.(3130-3132)gCa>gGa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							41	42	42					1																	228412361		2060	4188	6248	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.chr1:228412361C>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.2855C>G	1.37:g.228412361C>G	ENSP00000409493:p.Ala952Gly		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.A952G|OBSCN_ENST00000284548.11_Missense_Mutation_p.A952G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.A1044G	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			10	3205	+		Prostate(94;0.0405)	1044			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.3131C>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.297	1.052023	0.19827	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.70986	-0.53;-0.53	4.51	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098651	0.42821	D	0.000647	T	0.78679	0.4321	M	0.82923	2.615	0.80722	D	1	P;D	0.57257	0.929;0.979	P;P	0.56865	0.808;0.771	T	0.77648	-0.2509	10	0.72032	D	0.01	.	8.3454	0.32270	0.0:0.578:0.0:0.422	.	952;952	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	952	ENSP00000284548:A952G;ENSP00000409493:A952G	ENSP00000284548:A952G	A	+	2	0	OBSCN	226478984	0.099000	0.21834	0.455000	0.27031	0.126000	0.20510	0.395000	0.20850	0.197000	0.20387	-0.137000	0.14449	GCA		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	22	20	22	---	---	---	---	G	228412361	C	G	228412361	3	3	303	1	0	0	0	0	1	0	0	0	10812	710	25	4	2885	4	OBSCN	1	228412361	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	51848006	228412361	20838260	6	11042										
TAF5L	27097	broad.mit.edu	37	chr1	229738306	229738306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	acagctgatagtctgttctcTtggcaggctgcacgtcaaga	11	10	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr1:229738306T>C	ENST00000366676.1	-	3	607	c.608A>G	c.(607-609)aAg>aGg	p.K203R	TAF5L_ENST00000366675.3_Missense_Mutation_p.K203R|TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	203					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)				GTCTGTTCTCTTGGCAGGCTG	0.527																																						ENST00000366675.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(607-609)aAg>aGg		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							130	128	129					1																	229738306		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.chr1:229738306T>C	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.608A>G	1.37:g.229738306T>C	ENSP00000355636:p.Lys203Arg		Somatic				TAF5L_ENST00000258281.2_Missense_Mutation_p.K203R|TAF5L_ENST00000366676.1_Missense_Mutation_p.K203R	p.K203R	NM_001025247.1	NP_001020418.1	WXS	Illumina GAIIx	Phase_I	O75529	TAF5L_HUMAN			4	696	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	203					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.608A>G	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.556051	0.27827	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58652	0.32;0.32;0.91	5.79	5.79	0.91817	.	0.140005	0.64402	D	0.000005	T	0.42426	0.1202	N	0.17082	0.46	0.40020	D	0.97539	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.32640	-0.9899	9	.	.	.	-25.2854	16.1244	0.81382	0.0:0.0:0.0:1.0	.	203;203	O75529-2;O75529	.;TAF5L_HUMAN	R	203	ENSP00000355636:K203R;ENSP00000258281:K203R;ENSP00000355635:K203R	.	K	-	2	0	TAF5L	227804929	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.348000	0.59379	2.210000	0.71456	0.528000	0.53228	AAG		0.527	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		23	33	23	33	---	---	---	---	C	229738306	T	C	229738306	3	2	303	1	0	0	0	0	1	0	0	0	15526	1609	56	2	1175	2	TAF5L	1	229738306	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	1325945	229738306	19512315	7	11043										
ERLEC1	27248	broad.mit.edu	37	chr2	54028677	54028677	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctgaatctaagcatgaaatTctttcagtagctgaagttac	7	8	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:54028677T>G	ENST00000185150.4	+	7	800	c.669T>G	c.(667-669)atT>atG	p.I223M	ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	223					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AGCATGAAATTCTTTCAGTAG	0.383																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(667-669)atT>atG		endoplasmic reticulum lectin 1							91	76	81					2																	54028677		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54028677T>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.669T>G	2.37:g.54028677T>G	ENSP00000185150:p.Ile223Met		Somatic				ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.I223M|ERLEC1_ENST00000405123.3_Missense_Mutation_p.I223M|ASB3_ENST00000498475.2_Intron	p.I223M	NM_015701.4	NP_056516.2	WXS	Illumina GAIIx	Phase_I	Q96DZ1	ERLEC_HUMAN			7	800	+			223					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.669T>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518854	0.64634	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T;T	0.11821	2.74;2.74;2.74	5.95	1.14	0.20703	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	.	.	.	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.02431	-1.1160	9	0.59425	D	0.04	-16.1076	10.0851	0.42412	0.0:0.4964:0.0:0.5036	.	223;223;223	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	M	223	ENSP00000385629:I223M;ENSP00000185150:I223M;ENSP00000367485:I223M	ENSP00000185150:I223M	I	+	3	3	ERLEC1	53882181	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.231000	0.17872	0.181000	0.19994	0.528000	0.53228	ATT		0.383	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		25	30	25	30	---	---	---	---	G	54028677	T	G	54028677	3	3	303	1	0	0	0	0	1	0	0	0	5231	1771	62	5	695	5	ERLEC1	2	54028677	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08		54028677	189170696	8	11044										
AFF3	3899	broad.mit.edu	37	chr2	100623893	100623893	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttgcctaaagtgttctggatCcggttggagagttcatcccc	11	10	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:100623893C>G	ENST00000409236.2	-	4	316	c.204G>C	c.(202-204)cgG>cgC	p.R68R	AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R|AFF3_ENST00000409579.1_Silent_p.R93R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	68					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.R93R(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						TGTTCTGGATCCGGTTGGAGA	0.433																																						ENST00000409236.2																			1	Substitution - coding silent(1)	p.R93R(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.(202-204)cgG>cgC		AF4/FMR2 family, member 3							90	94	93					2																	100623893		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623893C>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.204G>C	2.37:g.100623893C>G			Somatic				AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000409579.1_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R	p.R68R			WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			4	316	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.204G>C	CCDS42723.1																																																																																				0.433	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		45	79	45	79	---	---	---	---	G	100623893	C	G	100623893	2	3	303	1	0	0	0	0	0	0	0	1	358	842	30	4		4	AFF3	2	100623893	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	46595216	100623893	142575480	9	11045										
ACTR3	10096	broad.mit.edu	37	chr2	114709088	114709088	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gactttacacaacctatctcAgaagttgtagatgaagtaat	7	7	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:114709088A>T	ENST00000263238.2	+	9	1211	c.891A>T	c.(889-891)tcA>tcT	p.S297S	ACTR3_ENST00000536059.1_Silent_p.S235S|ACTR3_ENST00000535589.2_Silent_p.S246S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	297					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						AACCTATCTCAGAAGTTGTAG	0.303																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(889-891)tcA>tcT		ARP3 actin-related protein 3 homolog (yeast)							82	79	80					2																	114709088		2202	4291	6493	SO:0001819	synonymous_variant	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114709088A>T	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.891A>T	2.37:g.114709088A>T			Somatic				ACTR3_ENST00000535589.2_Silent_p.S246S|ACTR3_ENST00000536059.1_Silent_p.S235S	p.S297S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	WXS	Illumina GAIIx	Phase_I	P61158	ARP3_HUMAN			9	1211	+			297					P32391|Q53QM2	Silent	SNP	ENST00000263238.2	37	c.891A>T	CCDS33277.1																																																																																				0.303	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		17	20	17	20	---	---	---	---	T	114709088	A	T	114709088	2	4	303	1	0	0	0	0	0	0	0	1	212	175	7	5		5	ACTR3	2	114709088	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	14085195	114709088	128490285	10	11046										
INSIG2	51141	broad.mit.edu	37	chr2	118864346	118864346	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ataacaacatacagttgtctCtcacactggctgcactatcc	5	13	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:118864346C>G	ENST00000245787.4	+	4	609	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	135					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACAGTTGTCTCTCACACTGGC	0.388																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(403-405)Ctc>Gtc		insulin induced gene 2							215	196	203					2																	118864346		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864346C>G	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.403C>G	2.37:g.118864346C>G	ENSP00000245787:p.Leu135Val		Somatic				INSIG2_ENST00000485520.1_3'UTR	p.L135V	NM_016133.2	NP_057217.2	WXS	Illumina GAIIx	Phase_I	Q9Y5U4	INSI2_HUMAN			4	609	+			135					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.403C>G	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905474	0.72868	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.987	T	0.71159	-0.4674	9	0.22706	T	0.39	.	19.4672	0.94948	0.0:1.0:0.0:0.0	.	27;135	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	V	135	.	ENSP00000245787:L135V	L	+	1	0	INSIG2	118580816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.833000	0.97629	0.585000	0.79938	CTC		0.388	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		17	34	17	34	---	---	---	---	G	118864346	C	G	118864346	3	3	303	1	0	0	0	0	1	0	0	0	7766	913	32	4	413	4	INSIG2	2	118864346	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	4155258	118864346	124335027	11	11047										
ZDBF2	57683	broad.mit.edu	37	chr2	207170014	207170014	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tcattttcgtatcagaaacaTaaagaatcaaataggaaatc	5	6	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:207170014T>A	ENST00000374423.3	+	5	1148	c.762T>A	c.(760-762)caT>caA	p.H254Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	254							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						ATCAGAAACATAAAGAATCAA	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.(760-762)caT>caA		zinc finger, DBF-type containing 2							30	29	30					2																	207170014		1830	4087	5917	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170014T>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.762T>A	2.37:g.207170014T>A	ENSP00000363545:p.His254Gln		Somatic					p.H254Q	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	1148	+			254					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.762T>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	4.486	0.090180	0.08632	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	4.71	2.31	0.28768	.	0.465919	0.16082	N	0.230457	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.29852	-0.9998	10	0.34782	T	0.22	.	3.628	0.08120	0.168:0.1659:0.0:0.6661	.	254	Q9HCK1	ZDBF2_HUMAN	Q	254	ENSP00000363545:H254Q	ENSP00000363545:H254Q	H	+	3	2	ZDBF2	206878259	0.023000	0.18921	0.412000	0.26496	0.059000	0.15707	0.255000	0.18333	0.633000	0.30452	-0.341000	0.08007	CAT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	18	6	18	---	---	---	---	A	207170014	T	A	207170014	3	1	303	1	0	0	0	0	1	0	0	0	17596	1403	49	5	772	5	ZDBF2	2	207170014	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	88305668	207170014	36029359	12	11048										
C2orf67	151050	broad.mit.edu	37	chr2	210894539	210894539	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaacctactcgtgatgaattCtggattcttgataaaacgtt	7	7	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:210894539C>G	ENST00000281772.9	-	10	2522	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H|AC007038.7_ENST00000452057.1_RNA|RP11-260M2.1_ENST00000608095.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	753						histone acetyltransferase complex (GO:0000123)											GTGATGAATTCTGGATTCTTG	0.289																																						ENST00000281772.9																			0											c.(2257-2259)caG>caC		KAT8 regulatory NSL complex subunit 1-like							133	133	133					2																	210894539		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210894539C>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.2259G>C	2.37:g.210894539C>G	ENSP00000281772:p.Gln753His		Somatic				KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q711H	p.Q753H	NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			10	2522	-			753					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2259G>C	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375933	0.61735	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	4.61	0.57282	.	0.352303	0.21791	N	0.069069	T	0.55924	0.1951	L	0.46157	1.445	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.57152	0.814;0.814	T	0.56044	-0.8044	9	0.52906	T	0.07	.	7.4174	0.27053	0.0:0.687:0.2238:0.0892	.	711;753	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	753;711	.	ENSP00000281772:Q753H	Q	-	3	2	C2orf67	210602784	0.881000	0.30235	1.000000	0.80357	0.975000	0.68041	-0.189000	0.09629	2.586000	0.87340	0.655000	0.94253	CAG		0.289	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		31	84	31	84	---	---	---	---	G	210894539	C	G	210894539	3	3	303	1	0	0	0	0	1	0	0	0	2186	912	32	4	728	4	C2orf67	2	210894539	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	3724525	210894539	32304834	13	11049										
STK36	27148	broad.mit.edu	37	chr2	219540981	219540981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	accctgtgcgctggccctcaAccatcagtccctgctttaag	8	16	2	0	rs371599500		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:219540981A>G	ENST00000295709.3	+	6	943	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											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		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGGCCCTCAACCATCAGTCC	0.448													A|||	1	0.000199681	0	0	5008	,	,		20183	0.001		0	False		,,,				2504	0					ENST00000295709.3																			0				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.(664-666)Acc>Gcc		serine/threonine kinase 36							70	65	67					2																	219540981		2203	4300	6503	SO:0001583	missense	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.chr2:219540981A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.664A>G	2.37:g.219540981A>G	ENSP00000295709:p.Thr222Ala		Somatic				STK36_ENST00000440309.1_Missense_Mutation_p.T222A|STK36_ENST00000392106.2_Missense_Mutation_p.T222A|STK36_ENST00000392105.3_Missense_Mutation_p.T222A	p.T222A	NM_015690.4	NP_056505.2	WXS	Illumina GAIIx	Phase_I	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)	6	943	+		Renal(207;0.0915)	222			Protein kinase.			Missense_Mutation	SNP	ENST00000295709.3	37	c.664A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	7.608	0.674162	0.14841	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.67523	-0.27;-0.27;-0.1;-0.27;-0.1	5.49	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	0.46758	D	0.000267	T	0.47078	0.1426	N	0.25426	0.745	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.15870	0.008;0.014	T	0.24693	-1.0153	10	0.26408	T	0.33	-18.9502	4.2649	0.10759	0.6941:0.0:0.1475:0.1584	.	222;222	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	222	ENSP00000295709:T222A;ENSP00000375955:T222A;ENSP00000375954:T222A;ENSP00000394095:T222A;ENSP00000403527:T222A	ENSP00000295709:T222A	T	+	1	0	STK36	219249225	0.002000	0.14202	0.940000	0.37924	0.986000	0.74619	1.666000	0.37460	1.065000	0.40693	0.533000	0.62120	ACC		0.448	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	35	20	35	---	---	---	---	G	219540981	A	G	219540981	3	3	303	1	0	0	0	0	1	0	0	0	15301	43	2	2	682	2	STK36	2	219540981	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	8646442	219540981	23658392	14	11050										
COL6A3	1293	broad.mit.edu	37	chr2	238266526	238266526	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ctgtcttgtcctgggttaccCtgaaagcaacatgggaaagg	12	9	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						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.?(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)		CTGGGTTACCCTGAAAGCAAC	0.527																																						ENST00000295550.4																			1	Unknown(1)	p.?(1)	lung(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.e22-1		collagen, type VI, alpha 3							195	175	182					2																	238266526		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266526C>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.6472-1G>T	2.37:g.238266526C>A			Somatic				COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site		NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	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)	22	6924	-		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)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777456	0.49786	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237931265	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	6.981000	0.76166	2.571000	0.86741	0.655000	0.94253	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	92	10	92	10	---	---	---	---	A	238266526	C	A	238266526	5	1	303	1	0	0	0	0	0	0	1	0	3701	695	24	1	3154	1	COL6A3	2	238266526	Splice_Site	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	18725545	238266526	4932847	15	11051										
VHL	7428	broad.mit.edu	37	chr3	10188250	10188250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cacgatgggcttctggttaaCcaaactgaattatttgtgcc	9	9	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:10188250C>G	ENST00000256474.2	+	2	1233	c.393C>G	c.(391-393)aaC>aaG	p.N131K	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		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.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(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)		TTCTGGTTAACCAAACTGAAT	0.453		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"		9	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - frameshift(1)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)	kidney(9)	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	CM042502|CX073799	VHL	M|X		c.(391-393)aaC>aaG		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							207	191	197					3																	10188250		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.chr3:10188250C>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.393C>G	3.37:g.10188250C>G	ENSP00000256474:p.Asn131Lys		Somatic				VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.N131K	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1233	+			131		N -> K (in VHLD; type I).|N -> T (in VHLD; type I).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.393C>G	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396944	0.83120	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99806	-6.84	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.97927	1.0318	10	0.49607	T	0.09	-21.5782	16.3181	0.82935	0.0:1.0:0.0:0.0	.	131	P40337	VHL_HUMAN	K	131;49	ENSP00000256474:N131K	ENSP00000256474:N131K	N	+	3	2	VHL	10163250	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	4.188000	0.58351	2.530000	0.85305	0.563000	0.77884	AAC		0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		15	138	15	138	---	---	---	---	G	10188250	C	G	10188250	3	3	303	1	0	0	0	0	1	0	0	0	17159	506	18	4	399	4	VHL	3	10188250	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		10188250	187834180	16	11052										
NR1D2	9975	broad.mit.edu	37	chr3	24006646	24006646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	caaccttttaaaggctgggaCttttgaggtaggttttattt	10	5	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:24006646C>A	ENST00000312521.4	+	6	1644	c.1325C>A	c.(1324-1326)aCt>aAt	p.T442N	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	442	Interaction with ZNHIT1.|Ligand-binding.				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						AAGGCTGGGACTTTTGAGGTA	0.363																																						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.(1324-1326)aCt>aAt		nuclear receptor subfamily 1, group D, member 2							121	118	119					3																	24006646		2203	4300	6503	SO:0001583	missense	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.chr3:24006646C>A	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.1325C>A	3.37:g.24006646C>A	ENSP00000310006:p.Thr442Asn		Somatic				NR1D2_ENST00000492552.1_3'UTR	p.T442N	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	WXS	Illumina GAIIx	Phase_I	Q14995	NR1D2_HUMAN			6	1644	+			442					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1325C>A	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859330	0.91433	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96587	-4.06	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.044396	0.85682	D	0.000000	D	0.98466	0.9489	M	0.88241	2.94	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98903	1.0777	10	0.72032	D	0.01	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	442	Q14995	NR1D2_HUMAN	N	442	ENSP00000310006:T442N	ENSP00000310006:T442N	T	+	2	0	NR1D2	23981650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.814000	0.96858	0.655000	0.94253	ACT		0.363	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			7	118	7	118	---	---	---	---	A	24006646	C	A	24006646	3	1	303	1	0	0	0	0	1	0	0	0	10616	565	20	3	1347	3	NR1D2	3	24006646	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	13818396	24006646	174015784	17	11053										
TRIM71	131405	broad.mit.edu	37	chr3	32932438	32932438	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ccctttcaaggtggtggtcaAgtcaggccgcagctacgtgg	14	11	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:32932438A>T	ENST00000383763.5	+	4	1805	c.1742A>T	c.(1741-1743)aAg>aTg	p.K581M		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	581					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						GTGGTGGTCAAGTCAGGCCGC	0.602																																						ENST00000383763.5																			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.(1741-1743)aAg>aTg		tripartite motif containing 71, E3 ubiquitin protein ligase							68	71	70					3																	32932438		2153	4253	6406	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932438A>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.1742A>T	3.37:g.32932438A>T	ENSP00000373272:p.Lys581Met		Somatic					p.K581M	NM_001039111.1	NP_001034200.1	WXS	Illumina GAIIx	Phase_I	Q2Q1W2	LIN41_HUMAN			4	1805	+									Missense_Mutation	SNP	ENST00000383763.5	37	c.1742A>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.243520	0.58995	.	.	ENSG00000206557	ENST00000383763	D	0.84442	-1.85	5.71	5.71	0.89125	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89107	0.6621	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	D	0.88876	0.3336	10	0.45353	T	0.12	-40.2911	14.8116	0.70000	1.0:0.0:0.0:0.0	.	581	Q2Q1W2	LIN41_HUMAN	M	581	ENSP00000373272:K581M	ENSP00000373272:K581M	K	+	2	0	TRIM71	32907442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.180000	0.69256	0.528000	0.53228	AAG		0.602	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		24	19	24	19	---	---	---	---	T	32932438	A	T	32932438	3	4	303	1	0	0	0	0	1	0	0	0	16541	72	3	5	1756	5	TRIM71	3	32932438	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	8925792	32932438	165089992	18	11054										
SCN11A	11280	broad.mit.edu	37	chr3	38936400	38936400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctctccttctaagtttccaTttctttcctcattgctaaag	3	13	4	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:38936400T>C	ENST00000302328.3	-	15	2657	c.2459A>G	c.(2458-2460)aAt>aGt	p.N820S	SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	820					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)	TAAGTTTCCATTTCTTTCCTC	0.448																																						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.(2458-2460)aAt>aGt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						85	78	80					3																	38936400		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936400T>C	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.2459A>G	3.37:g.38936400T>C	ENSP00000307599:p.Asn820Ser		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.N820S|SCN11A_ENST00000456224.3_Missense_Mutation_p.N820S|SCN11A_ENST00000450244.1_Missense_Mutation_p.N820S	p.N820S	NM_014139.2	NP_054858.2	WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2657	-			820					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2459A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877390	0.17395	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95588	-3.75;-3.75;-3.72;-3.61	4.86	2.4	0.29515	.	1.035500	0.07535	N	0.912974	D	0.84238	0.5428	N	0.02685	-0.53	0.19575	N	0.999963	B	0.20459	0.045	B	0.14023	0.01	T	0.75001	-0.3471	10	0.06625	T	0.88	.	4.9297	0.13910	0.1354:0.1539:0.0:0.7106	.	820	Q9UI33	SCNBA_HUMAN	S	820	ENSP00000307599:N820S;ENSP00000400945:N820S;ENSP00000416757:N820S;ENSP00000408028:N820S	ENSP00000307599:N820S	N	-	2	0	SCN11A	38911404	0.012000	0.17670	0.277000	0.24703	0.850000	0.48378	1.791000	0.38744	0.411000	0.25702	0.533000	0.62120	AAT		0.448	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	46	4	46	---	---	---	---	C	38936400	T	C	38936400	3	2	303	1	0	0	0	0	1	0	0	0	13913	1493	52	2	2964	2	SCN11A	3	38936400	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	6003962	38936400	159086030	19	11055										
CCBP2	1238	broad.mit.edu	37	chr3	42906763	42906763	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaatagctgcagccttggtgGtggccttcttcgtgctatgg	13	9	1	0	rs368719352		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:42906763G>C	ENST00000422265.1	+	3	944	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	257					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)										AGCCTTGGTGGTGGCCTTCTT	0.532																																						ENST00000422265.1																			0											c.(769-771)Gtg>Ctg		atypical chemokine receptor 2							158	140	146					3																	42906763		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906763G>C	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.769G>C	3.37:g.42906763G>C	ENSP00000416996:p.Val257Leu		Somatic				CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.V257L|ACKR2_ENST00000442925.1_Missense_Mutation_p.V257L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	p.V257L	NM_001296.4	NP_001287.2	WXS	Illumina GAIIx	Phase_I					3	944	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.769G>C	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010765	0.35511	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.34072	1.38;1.38;1.38	4.49	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.336929	0.20591	N	0.089356	T	0.19087	0.0458	N	0.24115	0.695	0.80722	D	1	B	0.21606	0.058	B	0.21360	0.034	T	0.05989	-1.0852	9	.	.	.	.	4.1115	0.10062	0.259:0.0:0.5715:0.1695	.	257	O00590	CCBP2_HUMAN	L	257	ENSP00000396150:V257L;ENSP00000416996:V257L;ENSP00000273145:V257L	.	V	+	1	0	CCBP2	42881767	0.000000	0.05858	1.000000	0.80357	0.655000	0.38815	-0.286000	0.08399	1.083000	0.41159	0.563000	0.77884	GTG		0.532	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		47	70	47	70	---	---	---	---	C	42906763	G	C	42906763	3	2	303	1	0	0	0	0	1	0	0	0	2734	1261	44	4	771	4	CCBP2	3	42906763	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3970363	42906763	155115667	20	11056										
CCR1	1230	broad.mit.edu	37	chr3	46244792	46244792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	agggagatgtggagctgaccCtctccagcctgtccacggag	14	12	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:46244792C>G	ENST00000296140.3	-	2	1138	c.1013G>C	c.(1012-1014)aGg>aCg	p.R338T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	338					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)		GGAGCTGACCCTCTCCAGCCT	0.587																																						ENST00000296140.3																			0				autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17						c.(1012-1014)aGg>aCg		chemokine (C-C motif) receptor 1							64	59	61					3																	46244792		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.chr3:46244792C>G		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.1013G>C	3.37:g.46244792C>G	ENSP00000296140:p.Arg338Thr		Somatic				CCR3_ENST00000357422.2_Intron	p.R338T	NM_001295.2	NP_001286.1	WXS	Illumina GAIIx	Phase_I	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1138	-			338					Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.1013G>C	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781538	0.70222	.	.	ENSG00000163823	ENST00000296140	T	0.65549	-0.16	5.29	5.29	0.74685	.	2.572970	0.01001	N	0.003670	D	0.83289	0.5222	M	0.73598	2.24	0.42354	D	0.992385	D	0.89917	1.0	D	0.91635	0.999	T	0.66204	-0.5982	10	0.49607	T	0.09	.	17.4705	0.87645	0.0:1.0:0.0:0.0	.	338	P32246	CCR1_HUMAN	T	338	ENSP00000296140:R338T	ENSP00000296140:R338T	R	-	2	0	CCR1	46219796	0.708000	0.27876	0.988000	0.46212	0.950000	0.60333	2.843000	0.48238	2.637000	0.89404	0.549000	0.68633	AGG		0.587	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		17	14	17	14	---	---	---	---	G	46244792	C	G	46244792	3	3	303	1	0	0	0	0	1	0	0	0	2939	681	24	4	58	4	CCR1	3	46244792	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	3338029	46244792	151777638	21	11057										
ITIH1	3697	broad.mit.edu	37	chr3	52815957	52815957	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	acactctcgacggttccaggGtcatgtgctgttccgtccca	10	14	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:52815957G>T	ENST00000273283.2	+	7	713	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	230					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGGTTCCAGGGTCATGTGCTG	0.517																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(688-690)gGt>gTt		inter-alpha-trypsin inhibitor heavy chain 1							148	117	127					3																	52815957		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52815957G>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.688-1G>T	3.37:g.52815957G>T			Somatic				ITIH1_ENST00000542827.1_Splice_Site_p.G230V|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.G88V|ITIH1_ENST00000537050.1_5'UTR	p.G230V	NM_002215.3	NP_002206.2	WXS	Illumina GAIIx	Phase_I	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	7	713	+			230					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37	c.689G>T	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093939	0.56075	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02067	4.47;4.97;4.87	5.54	5.54	0.83059	.	0.098173	0.64402	D	0.000001	T	0.07863	0.0197	M	0.67953	2.075	0.80722	D	1	P	0.49783	0.928	P	0.54100	0.742	T	0.00331	-1.1811	10	0.87932	D	0	-18.2956	13.0261	0.58817	0.0:0.1618:0.8382:0.0	.	230	P19827	ITIH1_HUMAN	V	230;230;88	ENSP00000442584:G230V;ENSP00000273283:G230V;ENSP00000443973:G88V	ENSP00000273283:G230V	G	+	2	0	ITIH1	52790997	1.000000	0.71417	0.998000	0.56505	0.243000	0.25628	3.482000	0.53186	2.754000	0.94517	0.655000	0.94253	GGT		0.517	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Missense_Mutation	4	47	4	47	---	---	---	---	T	52815957	G	T	52815957	5	4	303	1	0	0	0	0	0	0	1	0	7903	1275	44	3	715	3	ITIH1	3	52815957	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	6571165	52815957	145206473	22	11058										
OR5K2	402135	broad.mit.edu	37	chr3	98216556	98216556	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaatcataccatgaaaaatgAgtttatcctcacaggattta	5	7	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:98216556A>T	ENST00000427338.1	+	1	109	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	11						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						ATGAAAAATGAGTTTATCCTC	0.383																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(31-33)gAg>gTg		olfactory receptor, family 5, subfamily K, member 2							86	86	86					3																	98216556		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216556A>T	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.32A>T	3.37:g.98216556A>T	ENSP00000393889:p.Glu11Val		Somatic					p.E11V	NM_001004737.1	NP_001004737.1	WXS	Illumina GAIIx	Phase_I	Q8NHB8	OR5K2_HUMAN			1	109	+			11					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.32A>T	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663673	0.29515	.	.	ENSG00000231861	ENST00000427338	T	0.01139	5.28	2.91	1.69	0.24217	.	0.166361	0.28219	N	0.016155	T	0.02807	0.0084	M	0.83603	2.65	0.09310	N	1	P	0.48764	0.915	P	0.49597	0.616	T	0.33979	-0.9847	10	0.59425	D	0.04	-5.2285	3.1691	0.06546	0.6133:0.2517:0.135:0.0	.	11	Q8NHB8	OR5K2_HUMAN	V	11	ENSP00000393889:E11V	ENSP00000393889:E11V	E	+	2	0	OR5K2	99699246	0.000000	0.05858	0.941000	0.38009	0.422000	0.31414	0.949000	0.29109	0.484000	0.27630	0.248000	0.18094	GAG		0.383	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			39	38	39	38	---	---	---	---	T	98216556	A	T	98216556	3	4	303	1	0	0	0	0	1	0	0	0	11167	304	11	5	34	5	OR5K2	3	98216556	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	45400599	98216556	99805874	23	11059										
GPR87	53836	broad.mit.edu	37	chr3	151012739	151012739	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tccaaatcctgcatcatggaCtattcgaaatggaaatgtca	7	9	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:151012739C>G	ENST00000260843.4	-	3	759	c.295G>C	c.(295-297)Gtc>Ctc	p.V99L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	99					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)			GCATCATGGACTATTCGAAAT	0.373																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(295-297)Gtc>Ctc		G protein-coupled receptor 87							139	137	138					3																	151012739		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012739C>G	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.295G>C	3.37:g.151012739C>G	ENSP00000260843:p.Val99Leu		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.V99L	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	759	-			99					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.295G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.337584	0.01287	.	.	ENSG00000138271	ENST00000260843	T	0.29397	1.57	5.31	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.271256	0.32041	N	0.006665	T	0.09642	0.0237	N	0.02213	-0.635	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.29882	-0.9997	10	0.09843	T	0.71	-11.8776	4.8444	0.13507	0.0:0.5737:0.1566:0.2697	.	99	Q9BY21	GPR87_HUMAN	L	99	ENSP00000260843:V99L	ENSP00000260843:V99L	V	-	1	0	GPR87	152495429	0.802000	0.28943	0.831000	0.32960	0.780000	0.44128	0.750000	0.26334	1.369000	0.46134	-0.137000	0.14449	GTC		0.373	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			9	45	9	45	---	---	---	---	G	151012739	C	G	151012739	3	3	303	1	0	0	0	0	1	0	0	0	6716	565	20	4	785	4	GPR87	3	151012739	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	52796183	151012739	47009691	24	11060										
KPNA4	3840	broad.mit.edu	37	chr3	160243734	160243734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaaagtgtttacctcctgaaTggtttccattggtggtggtg	12	6	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:160243734T>C	ENST00000334256.4	-	9	1023	c.718A>G	c.(718-720)Att>Gtt	p.I240V		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	240					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCTCCTGAATGGTTTCCATT	0.303																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(718-720)Att>Gtt		karyopherin alpha 4 (importin alpha 3)							67	71	70					3																	160243734		2200	4298	6498	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160243734T>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.718A>G	3.37:g.160243734T>C	ENSP00000334373:p.Ile240Val		Somatic					p.I240V	NM_002268.4	NP_002259.1	WXS	Illumina GAIIx	Phase_I	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		9	1023	-			240					A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.718A>G	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	6.605	0.480012	0.12581	.	.	ENSG00000186432	ENST00000334256	T	0.69926	-0.44	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	N	0.13235	0.315	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.42899	-0.9424	10	0.02654	T	1	-6.2125	14.8215	0.70077	0.0:0.0:0.0:1.0	.	240	O00629	IMA4_HUMAN	V	240	ENSP00000334373:I240V	ENSP00000334373:I240V	I	-	1	0	KPNA4	161726428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.819000	0.86621	2.084000	0.62774	0.533000	0.62120	ATT		0.303	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		47	40	47	40	---	---	---	---	C	160243734	T	C	160243734	3	2	303	1	0	0	0	0	1	0	0	0	8432	1464	51	2	883	2	KPNA4	3	160243734	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	9230995	160243734	37778696	25	11061										
SLC7A14	57709	broad.mit.edu	37	chr3	170218900	170218900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aggatgtggcagtctcacccAggccattgagggttcccacg	13	12	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr3:170218900A>C	ENST00000231706.5	-	3	854	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	180					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)			AGTCTCACCCAGGCCATTGAG	0.517																																						ENST00000231706.5																			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.(538-540)cTg>cGg		solute carrier family 7, member 14							68	63	65					3																	170218900		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170218900A>C	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.539T>G	3.37:g.170218900A>C	ENSP00000231706:p.Leu180Arg		Somatic				CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.L180R	NM_020949.2	NP_066000.2	WXS	Illumina GAIIx	Phase_I	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		3	854	-	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)							B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.539T>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163213	0.57476	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	5.26	5.26	0.73747	Amino acid permease domain (1);	0.157646	0.45606	D	0.000349	D	0.92087	0.7492	M	0.64997	1.995	0.58432	D	0.999999	D	0.71674	0.998	D	0.66196	0.942	D	0.89763	0.3948	10	0.15499	T	0.54	.	15.4595	0.75342	1.0:0.0:0.0:0.0	.	180	Q8TBB6	S7A14_HUMAN	R	180	ENSP00000231706:L180R	ENSP00000231706:L180R	L	-	2	0	SLC7A14	171701594	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.826000	0.92034	2.108000	0.64289	0.459000	0.35465	CTG		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		18	32	18	32	---	---	---	---	C	170218900	A	C	170218900	3	2	303	1	0	0	0	0	1	0	0	0	14696	188	7	5	1800	5	SLC7A14	3	170218900	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	9975166	170218900	27803530	26	11062										
BOD1L	259282	broad.mit.edu	37	chr4	13604756	13604756	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tcttcagcagctgtgtttttCaaattcttctgtaccctatc	5	11	5	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:13604756C>T	ENST00000040738.5	-	10	3903	c.3768G>A	c.(3766-3768)ttG>ttA	p.L1256L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTGTTTTTCAAATTCTTCT	0.393																																						ENST00000040738.5																			0											c.(3766-3768)ttG>ttA		biorientation of chromosomes in cell division 1-like 1							81	77	78					4																	13604756		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13604756C>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.3768G>A	4.37:g.13604756C>T			Somatic					p.L1256L	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			10	3903	-			1256					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3768G>A	CCDS3411.2																																																																																				0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	21	14	21	---	---	---	---	T	13604756	C	T	13604756	2	4	303	1	0	0	0	0	0	0	0	1	1483	825	29	2		2	BOD1L	4	13604756	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		13604756	177549520	27	11063										
ANTXR2	118429	broad.mit.edu	37	chr4	80954651	80954651	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gtatatgtttcatttacagtGtaagtgcagagaacactgcc	9	7	1	1	rs201698217	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:80954651G>T	ENST00000307333.7	-	9	773	c.771C>A	c.(769-771)taC>taA	p.Y257*	ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000403729.2_Nonsense_Mutation_p.Y257*	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	257					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CATTTACAGTGTAAGTGCAGA	0.378									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(769-771)taC>taA		anthrax toxin receptor 2							101	97	99					4																	80954651		1903	4126	6029	SO:0001587	stop_gained	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80954651G>T	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.771C>A	4.37:g.80954651G>T	ENSP00000306185:p.Tyr257*		Somatic				ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Nonsense_Mutation_p.Y257*|ANTXR2_ENST00000404191.1_Nonsense_Mutation_p.Y180*|ANTXR2_ENST00000295465.4_Nonsense_Mutation_p.Y257*	p.Y257*	NM_058172.5	NP_477520.2	WXS	Illumina GAIIx	Phase_I	P58335	ANTR2_HUMAN			9	1296	-			257					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Nonsense_Mutation	SNP	ENST00000307333.7	37	c.771C>A	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	40	8.219966	0.98712	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	.	.	.	5.71	-0.285	0.12866	.	0.342931	0.34932	N	0.003565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5158	4.4741	0.11726	0.5768:0.0:0.256:0.1671	.	.	.	.	X	257;180;257;257	.	ENSP00000295465:Y257X	Y	-	3	2	ANTXR2	81173675	0.001000	0.12720	0.008000	0.14137	0.444000	0.32077	-0.217000	0.09253	-0.011000	0.14247	0.585000	0.79938	TAC		0.378	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		16	12	16	12	---	---	---	---	T	80954651	G	T	80954651	4	4	303	1	0	0	0	0	0	1	0	0	712	1372	48	3	773	3	ANTXR2	4	80954651	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	67349895	80954651	110199625	28	11064										
PRDM8	56978	broad.mit.edu	37	chr4	81123131	81123131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gtttgagttcccctatgtggCgcatctgcgtttccgctgcc	11	13	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:81123131C>T	ENST00000504452.1	+	8	1354	c.515C>T	c.(514-516)gCg>gTg	p.A172V	PRDM8_ENST00000339711.4_Missense_Mutation_p.A172V|PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	172					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						CCCTATGTGGCGCATCTGCGT	0.597											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.(514-516)gCg>gTg		PR domain containing 8							126	137	133					4																	81123131		2139	4236	6375	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123131C>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.515C>T	4.37:g.81123131C>T	ENSP00000423985:p.Ala172Val		Somatic	OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.A172V|PRDM8_ENST00000504452.1_Missense_Mutation_p.A172V	p.A172V	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	1746	+			172					A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.515C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006288	0.93287	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.67345	-0.26;0.31;-0.26;-0.26	5.05	4.2	0.49525	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	T	0.82174	-0.0588	10	0.72032	D	0.01	.	15.2416	0.73474	0.0:0.8587:0.1413:0.0	.	172	Q9NQV8	PRDM8_HUMAN	V	172	ENSP00000423985:A172V;ENSP00000425149:A172V;ENSP00000339764:A172V;ENSP00000406998:A172V	ENSP00000339764:A172V	A	+	2	0	PRDM8	81342155	1.000000	0.71417	0.994000	0.49952	0.745000	0.42441	7.239000	0.78182	1.336000	0.45506	0.313000	0.20887	GCG		0.597	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			67	86	67	86	---	---	---	---	T	81123131	C	T	81123131	3	4	303	1	0	0	0	0	1	0	0	0	12462	768	27	2	525	2	PRDM8	4	81123131	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	168480	81123131	110031145	29	11065										
RASGEF1B	153020	broad.mit.edu	37	chr4	82355073	82355073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aatggacactccacttgtttCcatgtcataaattcactcac	4	12	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:82355073C>G	ENST00000264400.2	-	12	1396	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.W414C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	415	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CCACTTGTTTCCATGTCATAA	0.378																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1240-1242)tgG>tgC		RasGEF domain family, member 1B							212	191	198					4																	82355073		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82355073C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1245G>C	4.37:g.82355073C>G	ENSP00000264400:p.Trp415Cys		Somatic				RASGEF1B_ENST00000335927.7_Missense_Mutation_p.W373C|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.W415C	p.W414C			WXS	Illumina GAIIx	Phase_I	Q0VAM2	RGF1B_HUMAN			12	1463	-			415			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1242G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764149	0.69878	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.28069	1.63;1.63;1.63	5.05	5.05	0.67936	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.46157	1.445	0.80722	D	1	P;P;P	0.47962	0.903;0.903;0.556	P;P;B	0.52881	0.712;0.712;0.321	T	0.20371	-1.0277	10	0.51188	T	0.08	.	18.1775	0.89766	0.0:1.0:0.0:0.0	.	373;414;415	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	414;415;373	ENSP00000425393:W414C;ENSP00000264400:W415C;ENSP00000338437:W373C	ENSP00000264400:W415C	W	-	3	0	RASGEF1B	82574097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.640000	0.89533	0.585000	0.79938	TGG		0.378	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		11	202	11	202	---	---	---	---	G	82355073	C	G	82355073	3	3	303	1	0	0	0	0	1	0	0	0	13070	856	30	4	188	4	RASGEF1B	4	82355073	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	1231942	82355073	108799203	30	11066										
MMRN1	22915	broad.mit.edu	37	chr4	90816530	90816530	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gaatcagtggtcctttccaaTtctacactgaaatttcttca	5	10	4	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:90816530T>C	ENST00000394980.1	+	2	727	c.408T>C	c.(406-408)aaT>aaC	p.N136N	MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N			Q13201	MMRN1_HUMAN	multimerin 1	136					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)		TCCTTTCCAATTCTACACTGA	0.458																																						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.(406-408)aaT>aaC		multimerin 1							112	109	110					4																	90816530		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816530T>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.408T>C	4.37:g.90816530T>C			Somatic				MMRN1_ENST00000264790.2_Silent_p.N136N|MMRN1_ENST00000394981.1_Silent_p.N102N	p.N136N			WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	727	+		Hepatocellular(203;0.114)	136					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.408T>C	CCDS3635.1																																																																																				0.458	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		47	62	47	62	---	---	---	---	C	90816530	T	C	90816530	2	2	303	1	0	0	0	0	0	0	0	1	9670	1490	52	2		2	MMRN1	4	90816530	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	8461457	90816530	100337746	31	11067										
NDST4	64579	broad.mit.edu	37	chr4	115997694	115997694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tggtaagctgttctcattggCtttatgaaaaccgattatac	8	7	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:115997694C>T	ENST00000264363.2	-	2	1177	c.499G>A	c.(499-501)Gcc>Acc	p.A167T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	167	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)		TTCTCATTGGCTTTATGAAAA	0.353																																						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.(499-501)Gcc>Acc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							69	72	71					4																	115997694		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997694C>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.499G>A	4.37:g.115997694C>T	ENSP00000264363:p.Ala167Thr		Somatic					p.A167T	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1177	-		Ovarian(17;0.156)	167			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.499G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439589	0.43326	.	.	ENSG00000138653	ENST00000264363	T	0.37915	1.17	5.25	5.25	0.73442	.	0.052097	0.85682	D	0.000000	T	0.37679	0.1012	L	0.52206	1.635	0.58432	D	0.999997	B	0.15141	0.012	B	0.24006	0.05	T	0.12372	-1.0550	10	0.27082	T	0.32	.	18.8669	0.92296	0.0:1.0:0.0:0.0	.	167	Q9H3R1	NDST4_HUMAN	T	167	ENSP00000264363:A167T	ENSP00000264363:A167T	A	-	1	0	NDST4	116217143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.923000	0.56469	2.437000	0.82529	0.591000	0.81541	GCC		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		30	32	30	32	---	---	---	---	T	115997694	C	T	115997694	3	4	303	1	0	0	0	0	1	0	0	0	10258	797	28	2	2171	2	NDST4	4	115997694	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	25181164	115997694	75156582	32	11068										
NPY5R	4889	broad.mit.edu	37	chr4	164272284	164272284	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cattcatcaaaaaacacagaAgaagatatagcaagaagaca	6	7	2	5			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr4:164272284A>C	ENST00000515560.1	+	4	2381	c.859A>C	c.(859-861)Aga>Cga	p.R287R	NPY5R_ENST00000338566.3_Silent_p.R287R|NPY5R_ENST00000506953.1_Silent_p.R287R			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	287					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)				AAAACACAGAAGAAGATATAG	0.413																																					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.(859-861)Aga>Cga		neuropeptide Y receptor Y5							92	93	93					4																	164272284		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272284A>C	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.859A>C	4.37:g.164272284A>C			Somatic				NPY5R_ENST00000506953.1_Silent_p.R287R|NPY5R_ENST00000338566.3_Silent_p.R287R	p.R287R			WXS	Illumina GAIIx	Phase_I	Q15761	NPY5R_HUMAN			4	2381	+	all_hematologic(180;0.166)	Prostate(90;0.109)	287					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.859A>C	CCDS3804.1																																																																																				0.413	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		44	43	44	43	---	---	---	---	C	164272284	A	C	164272284	2	2	303	1	0	0	0	0	0	0	0	1	10610	64	3	5		5	NPY5R	4	164272284	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	48274590	164272284	26881992	33	11069										
TRIP13	9319	broad.mit.edu	37	chr5	914586	914586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttctgtctccccagtgtcagAtcatataccctcgccagcag	7	15	4	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:914586A>G	ENST00000166345.3	+	11	1383	c.1027A>G	c.(1027-1029)Atc>Gtc	p.I343V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	343					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)			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)			CCAGTGTCAGATCATATACCC	0.512																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(1027-1029)Atc>Gtc		thyroid hormone receptor interactor 13							154	157	156					5																	914586		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.chr5:914586A>G	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.1027A>G	5.37:g.914586A>G	ENSP00000166345:p.Ile343Val		Somatic					p.I343V	NM_004237.3	NP_004228.1	WXS	Illumina GAIIx	Phase_I	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		11	1383	+			343					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.1027A>G	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481948	0.44147	.	.	ENSG00000071539	ENST00000166345	D	0.95171	-3.63	5.8	4.62	0.57501	.	0.196102	0.50627	D	0.000102	D	0.89114	0.6623	N	0.25201	0.72	0.58432	D	0.999998	B	0.22909	0.077	B	0.19666	0.026	D	0.84119	0.0405	10	0.34782	T	0.22	-27.7761	12.7301	0.57193	0.8623:0.1377:0.0:0.0	.	343	Q15645	PCH2_HUMAN	V	343	ENSP00000166345:I343V	ENSP00000166345:I343V	I	+	1	0	TRIP13	967586	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.284000	0.58983	1.002000	0.39104	0.533000	0.62120	ATC		0.512	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		7	232	7	232	---	---	---	---	G	914586	A	G	914586	3	3	303	1	0	0	0	0	1	0	0	0	16554	333	12	2	1073	2	TRIP13	5	914586	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		914586	180000674	34	11070										
ARSB	411	broad.mit.edu	37	chr5	78251233	78251233	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctgcatagtgatgcctgttCttgtcttggataaagtcata	9	8	3	1	rs575119903	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:78251233C>G	ENST00000264914.4	-	4	1319	c.783G>C	c.(781-783)aaG>aaC	p.K261N	ARSB_ENST00000396151.3_Missense_Mutation_p.K261N|ARSB_ENST00000565165.1_Missense_Mutation_p.K261N	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	261					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)		GATGCCTGTTCTTGTCTTGGA	0.478																																					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.(781-783)aaG>aaC		arylsulfatase B							164	147	153					5																	78251233		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78251233C>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.783G>C	5.37:g.78251233C>G	ENSP00000264914:p.Lys261Asn		Somatic				ARSB_ENST00000396151.3_Missense_Mutation_p.K261N|ARSB_ENST00000565165.1_Missense_Mutation_p.K261N	p.K261N	NM_000046.3	NP_000037.2	WXS	Illumina GAIIx	Phase_I	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	4	1319	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	261					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.783G>C	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.024958	0.19433	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98567	-5.0;-5.0	5.55	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.538750	0.22223	N	0.062929	D	0.94905	0.8353	L	0.49699	1.58	0.35475	D	0.797652	B;B	0.32781	0.384;0.002	B;B	0.29353	0.101;0.009	D	0.93137	0.6538	10	0.19590	T	0.45	.	5.5396	0.17031	0.0:0.5948:0.1526:0.2525	.	261;261	Q8N322;P15848	.;ARSB_HUMAN	N	261	ENSP00000264914:K261N;ENSP00000379455:K261N	ENSP00000264914:K261N	K	-	3	2	ARSB	78286989	0.761000	0.28439	0.999000	0.59377	0.997000	0.91878	0.873000	0.28052	1.346000	0.45694	0.591000	0.81541	AAG		0.478	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		14	3	14	3	---	---	---	---	G	78251233	C	G	78251233	3	3	303	1	0	0	0	0	1	0	0	0	988	912	32	4	871	4	ARSB	5	78251233	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	77336647	78251233	102664027	35	11071										
APC	324	broad.mit.edu	37	chr5	112175856	112175856	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tatacagaaagatgtggaatTaagaataatgcctccagttc	8	6	0	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:112175856T>G	ENST00000457016.1	+	16	4945	c.4565T>G	c.(4564-4566)tTa>tGa	p.L1522*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*			P25054	APC_HUMAN	adenomatous polyposis coli	1522	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.K1454fs*3(1)|p.D1519fs*2(1)|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)		GATGTGGAATTAAGAATAATG	0.398		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	Deletion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)	thyroid(1)|large_intestine(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.(4564-4566)tTa>tGa		adenomatous polyposis coli							76	78	78					5																	112175856		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.chr5:112175856T>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.4565T>G	5.37:g.112175856T>G	ENSP00000413133:p.Leu1522*	TSP Lung(16;0.13)	Somatic				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.L1522*|APC_ENST00000508376.2_Nonsense_Mutation_p.L1522*	p.L1522*			WXS	Illumina GAIIx	Phase_I	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	4945	+		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)	1522			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4565T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	42	9.794623	0.99266	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	6.16	0.99307	.	0.081240	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.2285	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	1522	.	.	L	+	2	0	APC	112203755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TTA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		30	34	30	34	---	---	---	---	G	112175856	T	G	112175856	4	3	303	1	0	0	0	0	0	1	0	0	763	1764	61	5	4623	5	APC	5	112175856	Nonsense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	33924623	112175856	68739404	36	11072										
PCDHB11	56125	broad.mit.edu	37	chr5	140579581	140579581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaacagcgtttgcagctggaCataaacactggggatttgct	11	8	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:140579581C>G	ENST00000354757.3	+	1	234	c.234C>G	c.(232-234)gaC>gaG	p.D78E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	78	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(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTGGACATAAACACTG	0.512																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(232-234)gaC>gaG									108	119	115					5																	140579581		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579581C>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.234C>G	5.37:g.140579581C>G	ENSP00000346802:p.Asp78Glu		Somatic				PCDHB11_ENST00000536699.1_Intron	p.D78E	NM_018931.2	NP_061754.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	234	+			78			Cadherin 1.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.234C>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802591	0.31869	.	.	ENSG00000197479	ENST00000354757	T	0.44881	0.91	2.8	-0.409	0.12378	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34687	0.0906	L	0.56280	1.765	0.27524	N	0.9513	B	0.21147	0.052	B	0.26693	0.072	T	0.37197	-0.9716	9	0.54805	T	0.06	.	4.5867	0.12285	0.0:0.251:0.3294:0.4196	.	78	Q9Y5F2	PCDBB_HUMAN	E	78	ENSP00000346802:D78E	ENSP00000346802:D78E	D	+	3	2	PCDHB11	140559765	0.000000	0.05858	0.014000	0.15608	0.305000	0.27757	-6.119000	0.00080	-0.256000	0.09473	0.467000	0.42956	GAC		0.512	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		38	33	38	33	---	---	---	---	G	140579581	C	G	140579581	3	3	303	1	0	0	0	0	1	0	0	0	11536	477	17	4	236	4	PCDHB11	5	140579581	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	28403725	140579581	40335679	37	11073										
SLIT3	6586	broad.mit.edu	37	chr5	168175430	168175430	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggctcagctggcagctactcTcctcgttgcctgtggagagc	13	13	2	1	rs34681650		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr5:168175430T>A	ENST00000519560.1	-	20	2566	c.2147A>T	c.(2146-2148)gAg>gTg	p.E716V	SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V|SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	716	LRRNT 4.				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)			GCAGCTACTCTCCTCGTTGCC	0.642																																					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.(2146-2148)gAg>gTg		slit homolog 3 (Drosophila)							36	36	36					5																	168175430		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.chr5:168175430T>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.2147A>T	5.37:g.168175430T>A	ENSP00000430333:p.Glu716Val		Somatic				SLIT3_ENST00000404867.3_Missense_Mutation_p.E716V|SLIT3_ENST00000332966.8_Missense_Mutation_p.E716V	p.E716V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	WXS	Illumina GAIIx	Phase_I	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2566	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	716			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2147A>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	t	18.64	3.667951	0.67814	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76839	-1.05;-1.04;-1.04	5.3	5.3	0.74995	.	0.156184	0.56097	D	0.000024	T	0.79592	0.4472	M	0.73598	2.24	0.58432	D	0.999999	B	0.30439	0.279	B	0.34242	0.178	T	0.80439	-0.1382	10	0.66056	D	0.02	.	15.2939	0.73888	0.0:0.0:0.0:1.0	.	716	O75094	SLIT3_HUMAN	V	716	ENSP00000430333:E716V;ENSP00000332164:E716V;ENSP00000384890:E716V	ENSP00000332164:E716V	E	-	2	0	SLIT3	168108008	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	7.695000	0.84257	2.010000	0.58986	0.449000	0.29647	GAG		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	39	9	39	---	---	---	---	A	168175430	T	A	168175430	3	1	303	1	0	0	0	0	1	0	0	0	14741	1551	54	5	2492	5	SLIT3	5	168175430	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	27595849	168175430	12739830	38	11074										
KIAA0319	9856	broad.mit.edu	37	chr6	24601303	24601303	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttgtcaccagcagcagcaatGaagagagcacacctgtgggg	13	10	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:24601303G>T	ENST00000378214.3	-	2	553	c.29C>A	c.(28-30)tCa>tAa	p.S10*	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	10					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						CAGCAGCAATGAAGAGAGCAC	0.532																																						ENST00000378214.3																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(28-30)tCa>tAa		KIAA0319							111	110	110					6																	24601303		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.chr6:24601303G>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.29C>A	6.37:g.24601303G>T	ENSP00000367459:p.Ser10*		Somatic				KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.S10*|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR	p.S10*	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	WXS	Illumina GAIIx	Phase_I	Q5VV43	K0319_HUMAN			2	553	-			10					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Nonsense_Mutation	SNP	ENST00000378214.3	37	c.29C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217295	0.95104	.	.	ENSG00000137261	ENST00000537886;ENST00000378214;ENST00000543707	.	.	.	4.33	1.52	0.23074	.	2.240490	0.02674	N	0.108889	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0027	6.3829	0.21544	0.323:0.0:0.677:0.0	.	.	.	.	X	10	.	ENSP00000367459:S10X	S	-	2	0	KIAA0319	24709282	0.006000	0.16342	0.002000	0.10522	0.462000	0.32619	1.187000	0.32090	0.460000	0.27045	0.563000	0.77884	TCA		0.532	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		5	88	5	88	---	---	---	---	T	24601303	G	T	24601303	4	4	303	1	0	0	0	0	0	1	0	0	8168	1294	45	3	3301	3	KIAA0319	6	24601303	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		24601303	146513764	39	11075										
BAI3	577	broad.mit.edu	37	chr6	69349172	69349172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	atgcacctgccctcagcattTgggagagtgggggatcgacg	15	10	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr6:69349172T>C	ENST00000370598.1	+	3	1426	c.605T>C	c.(604-606)tTg>tCg	p.L202S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	202					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)				CCTCAGCATTTGGGAGAGTGG	0.473																																						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.(604-606)tTg>tCg		brain-specific angiogenesis inhibitor 3							65	64	64					6																	69349172		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.chr6:69349172T>C	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.605T>C	6.37:g.69349172T>C	ENSP00000359630:p.Leu202Ser		Somatic					p.L202S	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			3	1426	+		all_lung(197;0.212)	202					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.605T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208866	0.79240	.	.	ENSG00000135298	ENST00000370598	T	0.20598	2.06	5.12	5.12	0.69794	.	0.000000	0.53938	D	0.000048	T	0.21427	0.0516	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.03750	-1.1007	10	0.15066	T	0.55	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	202	O60242	BAI3_HUMAN	S	202	ENSP00000359630:L202S	ENSP00000359630:L202S	L	+	2	0	BAI3	69405893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.064000	0.61679	0.533000	0.62120	TTG		0.473	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			25	38	25	38	---	---	---	---	C	69349172	T	C	69349172	3	2	303	1	0	0	0	0	1	0	0	0	1300	1821	63	2	607	2	BAI3	6	69349172	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	44747869	69349172	101765895	40	11076										
HECW1	23072	broad.mit.edu	37	chr7	43495935	43495935	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cagccacgggcgggtcttttAtgtggaccacgtgaaccgca	13	12	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:43495935A>T	ENST00000395891.2	+	13	3145	c.2540A>T	c.(2539-2541)tAt>tTt	p.Y847F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	847	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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						CGGGTCTTTTATGTGGACCAC	0.537																																						ENST00000395891.2																			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.(2539-2541)tAt>tTt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							80	77	78					7																	43495935		1924	4134	6058	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43495935A>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.2540A>T	7.37:g.43495935A>T	ENSP00000379228:p.Tyr847Phe		Somatic				HECW1_ENST00000453890.1_Missense_Mutation_p.Y813F	p.Y847F	NM_015052.3	NP_055867.3	WXS	Illumina GAIIx	Phase_I	Q76N89	HECW1_HUMAN			13	3145	+						WW 1.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2540A>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	32	5.129901	0.94473	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.94897	-3.55;-3.55	6.06	6.06	0.98353	WW/Rsp5/WWP (6);	0.071453	0.64402	D	0.000001	D	0.95456	0.8524	L	0.35593	1.075	0.80722	D	1	D;P	0.76494	0.999;0.924	D;P	0.83275	0.996;0.874	D	0.95609	0.8670	10	0.49607	T	0.09	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	813;847	B4DH42;Q76N89	.;HECW1_HUMAN	F	847;813;847	ENSP00000379228:Y847F;ENSP00000407774:Y813F	ENSP00000265522:Y847F	Y	+	2	0	HECW1	43462460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.324000	0.78689	0.533000	0.62120	TAT		0.537	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		26	30	26	30	---	---	---	---	T	43495935	A	T	43495935	3	4	303	1	0	0	0	0	1	0	0	0	7042	449	16	5	2582	5	HECW1	7	43495935	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		43495935	115642728	41	11077										
TSC22D4	81628	broad.mit.edu	37	chr7	100075364	100075364	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gccgaagctgtggggctccaGgtctcgctcataaacatcca	11	13	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100075364G>C	ENST00000300181.2	-	2	1052	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	TSC22D4_ENST00000496728.1_5'Flank|TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	100					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTCCAGGTCTCGCTCA	0.662																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(298-300)Ctg>Gtg		TSC22 domain family, member 4							13	15	14					7																	100075364		2169	4219	6388	SO:0001583	missense	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100075364G>C	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.298C>G	7.37:g.100075364G>C	ENSP00000300181:p.Leu100Val		Somatic				TSC22D4_ENST00000393991.1_Intron	p.L100V	NM_030935.3	NP_112197.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q8	T22D4_HUMAN			2	1052	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		100					A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.298C>G	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477384	0.63849	.	.	ENSG00000166925	ENST00000300181	.	.	.	5.39	3.56	0.40772	.	0.210120	0.23866	N	0.043785	T	0.52468	0.1736	L	0.28274	0.84	0.80722	D	1	B;D	0.58620	0.22;0.983	B;D	0.63381	0.111;0.914	T	0.46911	-0.9157	8	.	.	.	-10.8244	8.7232	0.34454	0.182:0.0:0.818:0.0	.	100;100	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	V	100	.	.	L	-	1	2	TSC22D4	99913300	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.654000	0.24918	1.280000	0.44463	0.449000	0.29647	CTG		0.662	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		4	4	4	4	---	---	---	---	C	100075364	G	C	100075364	3	2	303	1	0	0	0	0	1	0	0	0	16607	991	35	4	905	4	TSC22D4	7	100075364	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	56579429	100075364	59063299	42	11078										
MUC17	140453	broad.mit.edu	37	chr7	100679631	100679631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cagcaccacgccggtggccaGtcctgaggctagcacccttt	11	16	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:100679631G>C	ENST00000306151.4	+	3	4998	c.4934G>C	c.(4933-4935)aGt>aCt	p.S1645T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1645	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)					CCGGTGGCCAGTCCTGAGGCT	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.(4933-4935)aGt>aCt		mucin 17, cell surface associated							236	246	243					7																	100679631		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679631G>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.4934G>C	7.37:g.100679631G>C	ENSP00000302716:p.Ser1645Thr		Somatic					p.S1645T	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	4998	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1645			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4934G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.447	-0.895772	0.02472	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.932	-1.86	0.07760	.	.	.	.	.	T	0.00815	0.0027	N	0.01576	-0.805	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.46247	-0.9205	9	0.07644	T	0.81	.	6.4998	0.22162	0.0:0.4172:0.5828:0.0	.	1645	Q685J3	MUC17_HUMAN	T	1645	ENSP00000302716:S1645T	ENSP00000302716:S1645T	S	+	2	0	MUC17	100466351	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.769000	0.01792	-0.958000	0.03622	0.134000	0.15878	AGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		116	102	116	102	---	---	---	---	C	100679631	G	C	100679631	3	2	303	1	0	0	0	0	1	0	0	0	9974	1029	36	4	4944	4	MUC17	7	100679631	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	604267	100679631	58459032	43	11079										
MET	4233	broad.mit.edu	37	chr7	116409761	116409761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aaagttggaaataagagctgTgagaatatacacttacattc	8	5	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:116409761T>G	ENST00000318493.6	+	12	2887	c.2700T>G	c.(2698-2700)tgT>tgG	p.C900W	MET_ENST00000397752.3_Missense_Mutation_p.C882W			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)			ATAAGAGCTGTGAGAATATAC	0.378			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.(2644-2646)tgT>tgG		met proto-oncogene							117	114	115					7																	116409761		1824	4093	5917	SO:0001583	missense	4233	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.chr7:116409761T>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.2700T>G	7.37:g.116409761T>G	ENSP00000317272:p.Cys900Trp		Somatic				MET_ENST00000318493.6_Missense_Mutation_p.C900W	p.C882W	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	WXS	Illumina GAIIx	Phase_I	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		12	2846	+	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)	882					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2646T>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.540571	0.65085	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097;ENST00000454623	D;D	0.85258	-1.76;-1.96	5.59	1.86	0.25419	Cell surface receptor IPT/TIG (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.89664	0.3879	10	0.87932	D	0	.	9.3407	0.38079	0.0:0.2071:0.0:0.7929	.	900;882	P08581-2;P08581	.;MET_HUMAN	W	882;900;162;14	ENSP00000380860:C882W;ENSP00000317272:C900W	ENSP00000317272:C900W	C	+	3	2	MET	116196997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.917000	0.28665	0.463000	0.27118	0.460000	0.39030	TGT		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			29	20	29	20	---	---	---	---	G	116409761	T	G	116409761	3	3	303	1	0	0	0	0	1	0	0	0	9485	1702	59	5	2742	5	MET	7	116409761	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	15730130	116409761	42728902	44	11080										
FAM71F2	346653	broad.mit.edu	37	chr7	128312528	128312529	+	Missense_Mutation	DNP	TT	TT	GC													0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	acttggggtggaaaatggccTtctttgtcaactgattcatt							TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:128312528_128312529TT>GC	ENST00000480462.1	+	1	183_184	c.77_78TT>GC	c.(76-78)cTT>cGC	p.L26R	FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	26										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GAAAATGGCCTTCTTTGTCAAC	0.5											OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(76-78)cTt>cGt|c.(76-78)ctT>ctC		family with sequence similarity 71, member F2																																				SO:0001583	missense	346653							g.chr7:128312528T>G|g.chr7:128312529T>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	Exception_encountered	7.37:g.128312528_128312529delinsGC	ENSP00000420140:p.Leu26Arg		Somatic	OREG0018296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.L26R|FAM71F2_ENST00000378704.3_Missense_Mutation_p.L26R|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.L26L|FAM71F2_ENST00000378704.3_Silent_p.L26L	p.L26R|p.L26L			WXS	Illumina GAIIx	Phase_I	Q6NXP2	F71F2_HUMAN			1	183|184	+			26					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation|Silent	SNP	ENST00000480462.1	37	c.77T>G|c.78T>C	CCDS47701.1																																																																																				0.5	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			5	6|7	5	6	---	---	---	---	GC	128312529	TT	GC	128312528	3	3	303	1	0	0	0	0	1	0	0	0	5613	1609	56	5	79	5	FAM71F2	7	128312528	Missense_Mutation	DNP	TT	TCGA-XQ-A8TA-01A-11D-A364-08	11902767	128312528	30826135	45	11081										
DGKI	9162	broad.mit.edu	37	chr7	137308251	137308251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctgcttgcaccaggaacagCtgatagccacaatctcttta	7	13	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:137308251C>A	ENST00000288490.5	-	7	854	c.854G>T	c.(853-855)aGc>aTc	p.S285I	DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000424189.2_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	285					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						CCAGGAACAGCTGATAGCCAC	0.423																																						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.(853-855)aGc>aTc		diacylglycerol kinase, iota							197	186	190					7																	137308251		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.chr7:137308251C>A	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.854G>T	7.37:g.137308251C>A	ENSP00000288490:p.Ser285Ile		Somatic				DGKI_ENST00000446122.1_Missense_Mutation_p.S285I|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.S285I	p.S285I			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			7	1083	-			285					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.854G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185414	0.94885	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.93189	-3.18;-3.18	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	10	0.66056	D	0.02	.	19.9596	0.97236	0.0:1.0:0.0:0.0	.	285	O75912	DGKI_HUMAN	I	233;285;285;285	ENSP00000288490:S285I;ENSP00000399131:S285I	ENSP00000288490:S285I	S	-	2	0	DGKI	136958791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	AGC		0.423	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		73	99	73	99	---	---	---	---	A	137308251	C	A	137308251	3	1	303	1	0	0	0	0	1	0	0	0	4471	797	28	3	2455	3	DGKI	7	137308251	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	8995723	137308251	21830412	46	11082										
TRPV6	55503	broad.mit.edu	37	chr7	142583149	142583149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cttacctcttctgctgcagcAggttctgctcatctcggctc	8	15	5	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr7:142583149A>C	ENST00000359396.3	-	1	358	c.113T>G	c.(112-114)cTg>cGg	p.L38R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	38					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)					CTGCTGCAGCAGGTTCTGCTC	0.607																																						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.(112-114)cTg>cGg		transient receptor potential cation channel, subfamily V, member 6							109	110	110					7																	142583149		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142583149A>C	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.113T>G	7.37:g.142583149A>C	ENSP00000352358:p.Leu38Arg		Somatic				RP11-114L10.2_ENST00000438839.1_RNA	p.L38R	NM_018646.3	NP_061116	WXS	Illumina GAIIx	Phase_I	Q9H1D0	TRPV6_HUMAN			1	358	-	Melanoma(164;0.059)		38					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.113T>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.007777	0.35415	.	.	ENSG00000165125	ENST00000359396	T	0.56444	0.46	3.69	3.69	0.42338	.	0.423271	0.21368	N	0.075688	T	0.57431	0.2053	L	0.55481	1.735	0.42626	D	0.99336	D	0.53462	0.96	P	0.55871	0.786	T	0.55418	-0.8144	10	0.34782	T	0.22	-10.6897	8.9646	0.35867	1.0:0.0:0.0:0.0	.	38	Q9H1D0	TRPV6_HUMAN	R	38	ENSP00000352358:L38R	ENSP00000352358:L38R	L	-	2	0	TRPV6	142293271	1.000000	0.71417	0.990000	0.47175	0.074000	0.17049	4.225000	0.58600	1.697000	0.51169	0.317000	0.21355	CTG		0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		30	38	30	38	---	---	---	---	C	142583149	A	C	142583149	3	2	303	1	0	0	0	0	1	0	0	0	16597	188	7	5	2124	5	TRPV6	7	142583149	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	5274898	142583149	16555514	47	11083										
ANK1	286	broad.mit.edu	37	chr8	41559078	41559078	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ccaacgttaccttcatcttcCgagacatccaggatctcatc	5	15	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:41559078C>A	ENST00000347528.4	-	22	2534	c.2451G>T	c.(2449-2451)tcG>tcT	p.S817S	ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S|ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000396942.1_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	817	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)			CTTCATCTTCCGAGACATCCA	0.517											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2449-2451)tcG>tcT		ankyrin 1, erythrocytic							117	106	110					8																	41559078		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.chr8:41559078C>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.2451G>T	8.37:g.41559078C>A			Somatic	OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000352337.4_Silent_p.S817S|ANK1_ENST00000289734.7_Silent_p.S817S|ANK1_ENST00000347528.4_Silent_p.S817S|ANK1_ENST00000265709.8_Silent_p.S850S|ANK1_ENST00000379758.2_Silent_p.S817S|ANK1_ENST00000396945.1_Silent_p.S817S	p.S817S			WXS	Illumina GAIIx	Phase_I	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)		22	2534	-	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)	817			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2451G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.97	-3.93	0.04143	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2854	0.21031	0.1424:0.4673:0.3027:0.0877	.	.	.	.	X	131	.	.	G	-	1	0	ANK1	41678235	0.004000	0.15560	0.975000	0.42487	0.883000	0.51084	-0.933000	0.03959	-0.675000	0.05246	-0.262000	0.10625	GGA		0.517	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		27	2	27	2	---	---	---	---	A	41559078	C	A	41559078	2	1	303	1	0	0	0	0	0	0	0	1	620	639	23	1		1	ANK1	8	41559078	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		41559078	104804944	48	11084										
CSMD3	114788	broad.mit.edu	37	chr8	113960064	113960064	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cattttctggttctcctggaTctgggcataaattggaagct	10	8	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:113960064T>A	ENST00000297405.5	-	9	1707	c.1463A>T	c.(1462-1464)gAt>gTt	p.D488V	CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2. {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						TTCTCCTGGATCTGGGCATAA	0.303										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.(1462-1464)gAt>gTt		CUB and Sushi multiple domains 3							91	92	92					8																	113960064		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960064T>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.1463A>T	8.37:g.113960064T>A	ENSP00000297405:p.Asp488Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.D448V|CSMD3_ENST00000455883.2_Missense_Mutation_p.D384V|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488V	p.D488V	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			9	1707	-			488			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1463A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234859	0.79800	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77267	0.4105	M	0.70842	2.15	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.76942	-0.2772	10	0.37606	T	0.19	.	15.1689	0.72854	0.0:0.0:0.0:1.0	.	384;488;448	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	448;488;384;488	ENSP00000345799:D448V;ENSP00000297405:D488V;ENSP00000412263:D384V;ENSP00000343124:D488V	ENSP00000297405:D488V	D	-	2	0	CSMD3	114029240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.324000	0.79115	2.052000	0.61016	0.454000	0.30748	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	81	32	81	---	---	---	---	A	113960064	T	A	113960064	3	1	303	1	0	0	0	0	1	0	0	0	3946	1435	50	5	9912	5	CSMD3	8	113960064	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	72400986	113960064	32403958	49	11085										
KIAA0196	9897	broad.mit.edu	37	chr8	126049568	126049568	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	agggtaagcgctttgttgttAtgtatatctggaaagagaaa	12	3	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr8:126049568A>T	ENST00000318410.7	-	26	3441	c.3092T>A	c.(3091-3093)aTa>aAa	p.I1031K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					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)			CTTTGTTGTTATGTATATCTG	0.328																																						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.(3091-3093)aTa>aAa		KIAA0196							107	113	111					8																	126049568		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126049568A>T		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.3092T>A	8.37:g.126049568A>T	ENSP00000318016:p.Ile1031Lys		Somatic				KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883K	p.I1031K	NM_014846.3	NP_055661.3	WXS	Illumina GAIIx	Phase_I	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		26	3441	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		1031					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.3092T>A	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.011072|4.011072	0.75046|0.75046	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86694|.	-2.16;-2.16|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74635|.	0.3742|.	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.968;0.991|.	P;D|.	0.75484|.	0.789;0.986|.	T|.	0.74016|.	-0.3800|.	10|.	0.87932|.	D|.	0|.	-24.4094|-24.4094	16.5763|16.5763	0.84648|0.84648	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	883;1031|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	K|K	1031;883|648	ENSP00000318016:I1031K;ENSP00000429676:I883K|.	ENSP00000318016:I1031K|.	I|X	-|-	2|1	0|0	KIAA0196|KIAA0196	126118750|126118750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.785000|8.785000	0.91822|0.91822	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	ATA|TAA		0.328	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		64	125	64	125	---	---	---	---	T	126049568	A	T	126049568	3	4	303	1	0	0	0	0	1	0	0	0	8161	449	16	5	403	5	KIAA0196	8	126049568	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	12089504	126049568	20314454	50	11086										
PIGO	84720	broad.mit.edu	37	chr9	35092294	35092294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ctcttggacccccagccagcCcaggctttccacagaaaagg	9	16	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:35092294C>G	ENST00000378617.3	-	7	1984	c.1590G>C	c.(1588-1590)tgG>tgC	p.W530C	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	530					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)			CCCAGCCAGCCCAGGCTTTCC	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.(1588-1590)tgG>tgC		phosphatidylinositol glycan anchor biosynthesis, class O							40	44	42					9																	35092294		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.chr9:35092294C>G	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.1590G>C	9.37:g.35092294C>G	ENSP00000367880:p.Trp530Cys		Somatic				PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.W530C	p.W530C	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1984	-			530					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1590G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860673	0.17178	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56275	0.47;0.47	5.55	4.62	0.57501	.	0.369227	0.32836	N	0.005600	T	0.47930	0.1472	L	0.56769	1.78	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.40608	-0.9554	10	0.38643	T	0.18	-20.8541	12.3953	0.55380	0.1313:0.7421:0.1266:0.0	.	530	Q8TEQ8	PIGO_HUMAN	C	530	ENSP00000367880:W530C;ENSP00000339382:W530C	ENSP00000339382:W530C	W	-	3	0	PIGO	35082294	0.012000	0.17670	0.997000	0.53966	0.722000	0.41435	0.788000	0.26872	2.894000	0.99253	0.655000	0.94253	TGG		0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	15	13	15	---	---	---	---	G	35092294	C	G	35092294	3	3	303	1	0	0	0	0	1	0	0	0	11894	624	22	4	1699	4	PIGO	9	35092294	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		35092294	106121137	51	11087										
ALDH1B1	219	broad.mit.edu	37	chr9	38396792	38396792	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gcaaagcagaggaaagtgggGaacccctttgagctggacac	14	9	0	2	rs199975848		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:38396792G>A	ENST00000377698.3	+	2	1200	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	349					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)		GGAAAGTGGGGAACCCCTTTG	0.567																																						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.(1045-1047)ggG>ggA		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						53	57	56					9																	38396792		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396792G>A	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.1047G>A	9.37:g.38396792G>A			Somatic					p.G349G	NM_000692.4	NP_000683.3	WXS	Illumina GAIIx	Phase_I	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1200	+			349					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1047G>A	CCDS6615.1																																																																																				0.567	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			14	17	14	17	---	---	---	---	A	38396792	G	A	38396792	2	1	303	1	0	0	0	0	0	0	0	1	493	1161	41	2		2	ALDH1B1	9	38396792	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3304498	38396792	102816639	52	11088										
KIAA0368	23392	broad.mit.edu	37	chr9	114199253	114199253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tcaggtgtccatgggttatcAccaataactcgtttggctgc	10	10	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:114199253A>G	ENST00000338205.5	-	6	894	c.675T>C	c.(673-675)ggT>ggC	p.G225G	KIAA0368_ENST00000259335.4_Silent_p.G403G			Q5VYK3	ECM29_HUMAN	KIAA0368	231					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						ATGGGTTATCACCAATAACTC	0.463																																						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.(1207-1209)ggT>ggC		KIAA0368							107	111	110					9																	114199253		2083	4228	6311	SO:0001819	synonymous_variant	23392							g.chr9:114199253A>G	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.675T>C	9.37:g.114199253A>G			Somatic				KIAA0368_ENST00000338205.5_Silent_p.G225G	p.G403G	NM_001080398.1	NP_001073867.1	WXS	Illumina GAIIx	Phase_I					8	1208	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.1209T>C																																																																																					0.463	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		41	117	41	117	---	---	---	---	G	114199253	A	G	114199253	2	3	303	1	0	0	0	0	0	0	0	1	8171	146	6	2		2	KIAA0368	9	114199253	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	75802461	114199253	27014178	53	11089										
WDR31	114987	broad.mit.edu	37	chr9	116079080	116079080	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ccttggctgtggtccattctGagtaagtgaattcctctgtt	10	9	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:116079080G>C	ENST00000374193.4	-	11	1299	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	WDR31_ENST00000341761.4_Silent_p.L350L|WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	351										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCATTCTGAGTAAGTGAA	0.502																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(1051-1053)ctC>ctG		WD repeat domain 31							159	144	149					9																	116079080		2203	4300	6503	SO:0001819	synonymous_variant	114987							g.chr9:116079080G>C	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.1053C>G	9.37:g.116079080G>C			Somatic				WDR31_ENST00000374195.3_Silent_p.L226L|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.L350L	p.L351L	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	WXS	Illumina GAIIx	Phase_I	Q8NA23	WDR31_HUMAN			11	1299	-			351					Q5W0T9|Q96EG8	Silent	SNP	ENST00000374193.4	37	c.1053C>G	CCDS35110.1																																																																																				0.502	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		48	32	48	32	---	---	---	---	C	116079080	G	C	116079080	2	2	303	1	0	0	0	0	0	0	0	1	17283	1277	45	4		4	WDR31	9	116079080	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	1879827	116079080	25134351	54	11090										
CACNA1B	774	broad.mit.edu	37	chr9	140846798	140846798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tcatcatcggctccttcttcAtgctcaacctggtgctgggc	9	14	5	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr9:140846798A>G	ENST00000371372.1	+	7	1184	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	347					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)	CTCCTTCTTCATGCTCAACCT	0.587																																						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.(1039-1041)Atg>Gtg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						101	108	106					9																	140846798		2155	4268	6423	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.chr9:140846798A>G	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.1039A>G	9.37:g.140846798A>G	ENSP00000360423:p.Met347Val		Somatic				CACNA1B_ENST00000277551.2_Missense_Mutation_p.M347V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M347V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M347V	p.M347V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	7	1184	+	all_cancers(76;0.166)		347					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1039A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690777	0.48097	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.67	5.67	0.87782	.	0.082046	0.85682	D	0.000000	D	0.86594	0.5970	N	0.10837	0.055	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.82303	-0.0524	10	0.05721	T	0.95	.	15.6082	0.76692	1.0:0.0:0.0:0.0	.	347	B1AQK6	.	V	347	ENSP00000360423:M347V;ENSP00000277551:M347V;ENSP00000360414:M347V;ENSP00000360408:M347V;ENSP00000360406:M347V	ENSP00000277551:M347V	M	+	1	0	CACNA1B	139966619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.001000	0.70685	2.179000	0.69175	0.472000	0.43445	ATG		0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	39	3	39	---	---	---	---	G	140846798	A	G	140846798	3	3	303	1	0	0	0	0	1	0	0	0	2539	217	8	2	1065	2	CACNA1B	9	140846798	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	24767718	140846798	366633	55	11091										
PRTFDC1	56952	broad.mit.edu	37	chr10	25160954	25160954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gccagcgttgaaagatcatcGcctccgattatctgcatctc	8	13	3	2	rs201109414	byFrequency	TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:25160954G>A	ENST00000320152.6	-	4	406	c.378C>T	c.(376-378)ggC>ggT	p.G126G	PRTFDC1_ENST00000376378.1_Silent_p.G126G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	126					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						AAAGATCATCGCCTCCGATTA	0.463													G|||	2	0.000399361	0	0	5008	,	,		19130	0.002		0	False		,,,				2504	0					ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(376-378)ggC>ggT		phosphoribosyl transferase domain containing 1							287	245	259					10																	25160954		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:25160954G>A	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.378C>T	10.37:g.25160954G>A			Somatic				PRTFDC1_ENST00000376378.1_Silent_p.G126G	p.G126G	NM_020200.5	NP_064585.1	WXS	Illumina GAIIx	Phase_I	Q9NRG1	PRDC1_HUMAN			4	406	-			126					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Silent	SNP	ENST00000320152.6	37	c.378C>T	CCDS7145.1																																																																																				0.463	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		107	130	107	130	---	---	---	---	A	25160954	G	A	25160954	2	1	303	1	0	0	0	0	0	0	0	1	12637	1074	38	2		2	PRTFDC1	10	25160954	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		25160954	110373793	56	11092										
TLL2	7093	broad.mit.edu	37	chr10	98146717	98146717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gtcccacaccaaccttcacaCatcttcttatcggcggccag	6	17	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:98146717C>T	ENST00000357947.3	-	14	2070	c.1845G>A	c.(1843-1845)atG>atA	p.M615I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	615	EGF-like 1; 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)		AACCTTCACACATCTTCTTAT	0.587																																						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.(1843-1845)atG>atA		tolloid-like 2							134	114	121					10																	98146717		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146717C>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.1845G>A	10.37:g.98146717C>T	ENSP00000350630:p.Met615Ile		Somatic					p.M615I	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	2070	-		Colorectal(252;0.0846)	615			EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1845G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909351	0.33721	.	.	ENSG00000095587	ENST00000357947	D	0.96334	-3.98	4.43	-8.86	0.00795	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.754197	0.11253	N	0.583411	D	0.84669	0.5523	N	0.05383	-0.06	0.24052	N	0.996048	B	0.15719	0.014	B	0.18263	0.021	T	0.77146	-0.2695	10	0.18710	T	0.47	.	3.8406	0.08912	0.0848:0.2003:0.3845:0.3305	.	615	Q9Y6L7	TLL2_HUMAN	I	615	ENSP00000350630:M615I	ENSP00000350630:M615I	M	-	3	0	TLL2	98136707	0.372000	0.25064	0.460000	0.27093	0.493000	0.33554	-0.328000	0.07945	-1.325000	0.02269	-0.339000	0.08088	ATG		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			35	3	35	3	---	---	---	---	T	98146717	C	T	98146717	3	4	303	1	0	0	0	0	1	0	0	0	15943	478	17	2	1234	2	TLL2	10	98146717	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	72985763	98146717	37388030	57	11093										
C10orf81	79949	broad.mit.edu	37	chr10	115535574	115535575	+	Missense_Mutation	DNP	CT	CT	AG													0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	actgaacgttttcctttctcCtcctgatgtcatcaactatc							TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr10:115535574_115535575CT>AG	ENST00000369310.3	+	10	1542_1543	c.980_981CT>AG	c.(979-981)cCT>cAG	p.P327Q	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347Q|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161Q|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.P77Q|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245Q	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	341																	TTCCTTTCTCCTCCTGATGTCA	0.436																																						ENST00000354462.3																			0											c.(229-231)cCt>cAt|c.(229-231)ccT>ccG		pleckstrin homology domain containing, family S member 1																																				SO:0001583	missense	79949							g.chr10:115535574C>A|g.chr10:115535575T>G	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	Exception_encountered	10.37:g.115535574_115535575delinsAG	ENSP00000358316:p.Pro327Gln		Somatic				PLEKHS1_ENST00000369310.3_Missense_Mutation_p.P327H|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.P245H|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.P347H|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.P161H|PLEKHS1_ENST00000369310.3_Silent_p.P327P|PLEKHS1_ENST00000369312.4_Silent_p.P245P|PLEKHS1_ENST00000361048.1_Silent_p.P347P|PLEKHS1_ENST00000369309.1_Silent_p.P161P	p.P77H|p.P77P			WXS	Illumina GAIIx	Phase_I					4	388|389	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation|Silent	SNP	ENST00000369310.3	37	c.230C>A|c.231T>G	CCDS53580.1																																																																																				0.436	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		40	48|47	40	47	---	---	---	---	AG	115535575	CT	AG	115535574	3	1	303	1	0	0	0	0	1	0	0	0	1619	681	24	1	1078	1	C10orf81	10	115535574	Missense_Mutation	DNP	CT	TCGA-XQ-A8TA-01A-11D-A364-08	17388857	115535574	19999173	58	11094										
SSRP1	6749	broad.mit.edu	37	chr11	57095829	57095829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tcttggcctttttgagctgtTtccgcttcttctcatcccgg	8	13	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:57095829T>C	ENST00000278412.2	-	13	1819	c.1553A>G	c.(1552-1554)aAa>aGa	p.K518R	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	518	Arg/Lys-rich (basic).				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						TTTGAGCTGTTTCCGCTTCTT	0.567																																					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.(1552-1554)aAa>aGa		structure specific recognition protein 1							164	145	151					11																	57095829		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.chr11:57095829T>C	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.1553A>G	11.37:g.57095829T>C	ENSP00000278412:p.Lys518Arg		Somatic					p.K518R	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	Q08945	SSRP1_HUMAN			13	1819	-			518			Arg/Lys-rich (basic).		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1553A>G	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607788	0.66558	.	.	ENSG00000149136	ENST00000278412	D	0.93547	-3.24	4.94	4.94	0.65067	.	0.506014	0.19991	N	0.101551	D	0.95020	0.8388	L	0.58302	1.8	0.47698	D	0.999493	D	0.57571	0.98	D	0.70227	0.968	D	0.93223	0.6610	10	0.26408	T	0.33	.	12.5914	0.56445	0.0:0.0:0.0:1.0	.	518	Q08945	SSRP1_HUMAN	R	518	ENSP00000278412:K518R	ENSP00000278412:K518R	K	-	2	0	SSRP1	56852405	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.834000	0.62774	2.071000	0.62044	0.459000	0.35465	AAA		0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		5	60	5	60	---	---	---	---	C	57095829	T	C	57095829	3	2	303	1	0	0	0	0	1	0	0	0	15193	1841	64	2	596	2	SSRP1	11	57095829	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08		57095829	77910687	59	11095										
SORL1	6653	broad.mit.edu	37	chr11	121490558	121490558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	caccccgtcacctgcatgtgGttcatacgggcaaaacctcc	8	16	2	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:121490558G>A	ENST00000260197.7	+	43	5950	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1941	Fibronectin type-III 5. {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)		CCTGCATGTGGTTCATACGGG	0.557																																						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.(5821-5823)Gtt>Att		sortilin-related receptor, L(DLR class) A repeats containing							226	197	206					11																	121490558		2202	4299	6501	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.chr11:121490558G>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.5821G>A	11.37:g.121490558G>A	ENSP00000260197:p.Val1941Ile		Somatic				SORL1_ENST00000527934.1_Missense_Mutation_p.V556I|SORL1_ENST00000532694.1_Missense_Mutation_p.V787I|SORL1_ENST00000534286.1_Missense_Mutation_p.V851I|SORL1_ENST00000525532.1_Missense_Mutation_p.V885I	p.V1941I	NM_003105.5	NP_003096	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	43	5950	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1941			Fibronectin type-III 5.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.5821G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745383	0.30955	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.77	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.38904	0.1058	N	0.20986	0.625	0.45150	D	0.99816	B;B	0.32409	0.37;0.117	B;B	0.34242	0.178;0.106	T	0.28459	-1.0043	10	0.40728	T	0.16	.	10.7821	0.46384	0.1435:0.0:0.8565:0.0	.	556;1941	E9PKB0;Q92673	.;SORL_HUMAN	I	1941;885;787;851;556	ENSP00000260197:V1941I;ENSP00000434634:V885I;ENSP00000432131:V787I;ENSP00000436447:V851I;ENSP00000435405:V556I	ENSP00000260197:V1941I	V	+	1	0	SORL1	120995768	1.000000	0.71417	0.026000	0.17262	0.022000	0.10575	6.536000	0.73842	1.441000	0.47550	0.561000	0.74099	GTT		0.557	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		22	55	22	55	---	---	---	---	A	121490558	G	A	121490558	3	1	303	1	0	0	0	0	1	0	0	0	14934	1261	44	2	5991	2	SORL1	11	121490558	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	64394729	121490558	13515958	60	11096										
HEPACAM	220296	broad.mit.edu	37	chr11	124793827	124793827	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggcttggtgccattctcatgTgagcagttcaaggtgaaggc	14	8	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr11:124793827T>G	ENST00000298251.4	-	3	912	c.507A>C	c.(505-507)tcA>tcC	p.S169S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	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;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTCTCATGTGAGCAGTTCA	0.582																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(505-507)tcA>tcC		hepatic and glial cell adhesion molecule							100	76	84					11																	124793827		2201	4299	6500	SO:0001819	synonymous_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793827T>G	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26361	protein-coding gene	gene with protein product	"glial cell adhesion molecule"	611642	"hepatocyte cell adhesion molecule"			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.507A>C	11.37:g.124793827T>G			Somatic					p.S169S	NM_152722.4	NP_689935.2	WXS	Illumina GAIIx	Phase_I	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	3	912	-	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)	169			Ig-like C2-type.			Silent	SNP	ENST00000298251.4	37	c.507A>C	CCDS8456.1																																																																																				0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		10	6	10	6	---	---	---	---	G	124793827	T	G	124793827	2	3	303	1	0	0	0	0	0	0	0	1	7052	1683	59	5		5	HEPACAM	11	124793827	Silent	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	3303269	124793827	10212689	61	11097										
KRT85	3891	broad.mit.edu	37	chr12	52757020	52757031	+	Splice_Site	DEL	TGCCACTCACCT	TGCCACTCACCT	-													0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cttagcaggcaggtgtcctgTgccactcaccttgctacggt							TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:52757020_52757031delTGCCACTCACCT	ENST00000257901.3	-	5	1025_1027	c.950_952delAGGTGAGTGGCA	c.(949-954)aaggtg>atg	p.317_318KV>M	KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	317	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)		AGGTGTCCTGTGCCACTCACCTTGCTACGGTA	0.547																																						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.(949-954)aaggtg>atg		keratin 85																																				SO:0001630	splice_region_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757020_52757031delTGCCACTCACCT	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.951+1AGGTGAGTGGCA>-	12.37:g.52757020_52757031delTGCCACTCACCT			Somatic				KRT85_ENST00000544265.1_Splice_Site_p.105_106KV>M	p.317_318KV>M	NM_002283.3	NP_002274.1	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	1025_1027	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		317			Coil 2.|Rod.		Q9NSB1	Splice_Site	DEL	ENST00000257901.3	37	c.950_952delAGGTGAGTGGCA	CCDS8824.1																																																																																				0.547	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	In_Frame_Del	8	21	8	21	---	---	---	---	-	52757031	TGCCACTCACCT	-	52757020	8	5	303	1	0	1	0	1	0	0	1	0	8499	1711	59	0		0	KRT85	12	52757020	Splice_Site	DEL	TGCCACTCACCT	TCGA-XQ-A8TA-01A-11D-A364-08		52757020	81094875	62	11098										
KRT78	196374	broad.mit.edu	37	chr12	53237983	53237983	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tgtccccatgaagctgggcaGacacctgaagttcctggtac	11	12	0	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53237983G>A	ENST00000304620.4	-	6	1004	c.941C>T	c.(940-942)tCt>tTt	p.S314F	KRT78_ENST00000359499.4_Missense_Mutation_p.S204F	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	314	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						AAGCTGGGCAGACACCTGAAG	0.517																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)tCt>tTt		keratin 78							153	138	143					12																	53237983		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53237983G>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.941C>T	12.37:g.53237983G>A	ENSP00000306261:p.Ser314Phe		Somatic				KRT78_ENST00000304620.4_Missense_Mutation_p.S314F	p.S204F			WXS	Illumina GAIIx	Phase_I	Q8N1N4	K2C78_HUMAN			6	622	-			314			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.611C>T	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626552	0.46840	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.89617	-2.54;-2.54	4.65	3.74	0.42951	Filament (1);	0.354131	0.16748	N	0.201167	D	0.89959	0.6866	M	0.78801	2.425	0.09310	N	1	P	0.40875	0.731	B	0.43360	0.417	D	0.84060	0.0374	10	0.87932	D	0	.	12.6165	0.56580	0.0:0.1677:0.8323:0.0	.	314	Q8N1N4	K2C78_HUMAN	F	204;314;85	ENSP00000352479:S204F;ENSP00000306261:S314F	ENSP00000306261:S314F	S	-	2	0	KRT78	51524250	0.646000	0.27295	0.006000	0.13384	0.005000	0.04900	4.657000	0.61490	1.266000	0.44231	0.558000	0.71614	TCT		0.517	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		40	32	40	32	---	---	---	---	A	53237983	G	A	53237983	3	1	303	1	0	0	0	0	1	0	0	0	8491	942	33	2	637	2	KRT78	12	53237983	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	480963	53237983	80613912	63	11099										
ESPL1	9700	broad.mit.edu	37	chr12	53676966	53676966	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cccataagctcctccgaagcAtcatcctcctgctgatgggc	8	16	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:53676966A>G	ENST00000257934.4	+	15	2936	c.2845A>G	c.(2845-2847)Atc>Gtc	p.I949V	ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	949					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						CCTCCGAAGCATCATCCTCCT	0.532																																					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.(2845-2847)Atc>Gtc		extra spindle pole bodies homolog 1 (S. cerevisiae)							117	107	110					12																	53676966		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.chr12:53676966A>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.2845A>G	12.37:g.53676966A>G	ENSP00000257934:p.Ile949Val		Somatic				ESPL1_ENST00000552462.1_Missense_Mutation_p.I949V	p.I949V	NM_012291.4	NP_036423.4	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			15	2936	+			949						Missense_Mutation	SNP	ENST00000257934.4	37	c.2845A>G	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604013	0.66445	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.14391	2.51;2.51	5.23	4.09	0.47781	.	0.059132	0.64402	D	0.000001	T	0.32675	0.0837	M	0.72118	2.19	0.32134	N	0.586378	D;P	0.67145	0.996;0.944	D;P	0.77557	0.99;0.523	T	0.42224	-0.9464	10	0.62326	D	0.03	.	9.1335	0.36859	0.9143:0.0:0.0857:0.0	.	160;949	B4DRU1;Q14674	.;ESPL1_HUMAN	V	949;624;949	ENSP00000257934:I949V;ENSP00000449831:I949V	ENSP00000257934:I949V	I	+	1	0	ESPL1	51963233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.563000	0.45922	1.019000	0.39547	-0.256000	0.11100	ATC		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		7	50	7	50	---	---	---	---	G	53676966	A	G	53676966	3	3	303	1	0	0	0	0	1	0	0	0	5253	217	8	2	2899	2	ESPL1	12	53676966	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	438983	53676966	80174929	64	11100										
ANO4	121601	broad.mit.edu	37	chr12	101493355	101493355	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gaaattgatctttttgcccaGgttaattcagaattggtgga	10	5	2	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:101493355G>A	ENST00000392977.3	+	22	2216		c.e22-1		ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000299222.9_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						TTTTTGCCCAGGTTAATTCAG	0.328										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.e21-1		anoctamin 4							100	105	103					12																	101493355		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101493355G>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.2007-1G>A	12.37:g.101493355G>A		HNSCC(74;0.22)	Somatic				ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site		NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			21	2262	+								Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	ENST00000392977.3	37			.	.	.	.	.	.	.	.	.	.	G	22.3	4.270153	0.80469	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO4	100017486	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.096000	0.94182	2.711000	0.92665	0.650000	0.86243	.		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Intron	15	30	15	30	---	---	---	---	A	101493355	G	A	101493355	5	1	303	1	0	0	0	0	0	0	1	0	699	1014	35	2	1979	2	ANO4	12	101493355	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	47816389	101493355	32358540	65	11101										
TMEM132D	121256	broad.mit.edu	37	chr12	129558643	129558643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cacttttctgatctttcccaTcaatgatgatgggtcccaaa	6	11	3	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr12:129558643T>G	ENST00000422113.2	-	9	3403	c.3077A>C	c.(3076-3078)gAt>gCt	p.D1026A	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1026					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)		ATCTTTCCCATCAATGATGAT	0.468																																						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.(3076-3078)gAt>gCt		transmembrane protein 132D							106	106	106					12																	129558643		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558643T>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.3077A>C	12.37:g.129558643T>G	ENSP00000408581:p.Asp1026Ala		Somatic				TMEM132D_ENST00000389441.4_Missense_Mutation_p.D564A	p.D1026A	NM_133448.2	NP_597705.2	WXS	Illumina GAIIx	Phase_I	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3403	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1026					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3077A>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	6.242	0.412714	0.11812	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09073	3.02;3.83	4.33	3.14	0.36123	.	0.477638	0.20381	N	0.093451	T	0.07098	0.0180	L	0.47716	1.5	0.09310	N	1	P;B	0.42692	0.787;0.106	B;B	0.36666	0.23;0.048	T	0.28106	-1.0054	9	.	.	.	-12.8735	7.0173	0.24895	0.1474:0.0:0.1538:0.6988	.	1026;564	Q14C87;Q14C87-2	T132D_HUMAN;.	A	564;1026	ENSP00000374092:D564A;ENSP00000408581:D1026A	.	D	-	2	0	TMEM132D	128124596	0.012000	0.17670	0.005000	0.12908	0.013000	0.08279	0.638000	0.24674	0.584000	0.29591	0.460000	0.39030	GAT		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	67	16	67	---	---	---	---	G	129558643	T	G	129558643	3	3	303	1	0	0	0	0	1	0	0	0	16044	1435	50	5	226	5	TMEM132D	12	129558643	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	28065288	129558643	4293252	66	11102										
CENPJ	55835	broad.mit.edu	37	chr13	25478177	25478177	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ataattttctctctcaaaacCtgggatcgagcattgtcacc	6	11	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:25478177C>G	ENST00000381884.4	-	8	2897	c.2712G>C	c.(2710-2712)caG>caC	p.Q904H	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	904					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)		CTCTCAAAACCTGGGATCGAG	0.368																																						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.(2710-2712)caG>caC		centromere protein J							128	124	125					13																	25478177		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.chr13:25478177C>G	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.2712G>C	13.37:g.25478177C>G	ENSP00000371308:p.Gln904His		Somatic				CENPJ_ENST00000545981.1_Missense_Mutation_p.Q904H	p.Q904H	NM_018451.4	NP_060921.3	WXS	Illumina GAIIx	Phase_I	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	8	2897	-		Lung SC(185;0.0225)|Breast(139;0.0602)	904					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2712G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487518	0.63962	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.37058	1.22;1.79	6.03	3.14	0.36123	.	0.129244	0.53938	D	0.000044	T	0.53932	0.1827	M	0.74881	2.28	0.28584	N	0.90997	D	0.89917	1.0	D	0.68192	0.956	T	0.50189	-0.8857	10	0.66056	D	0.02	.	8.1735	0.31268	0.0:0.7159:0.0:0.2841	.	904	Q9HC77	CENPJ_HUMAN	H	904	ENSP00000371308:Q904H;ENSP00000441090:Q904H	ENSP00000371308:Q904H	Q	-	3	2	CENPJ	24376177	0.670000	0.27512	0.998000	0.56505	0.999000	0.98932	0.866000	0.27954	0.745000	0.32763	0.655000	0.94253	CAG		0.368	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		28	55	28	55	---	---	---	---	G	25478177	C	G	25478177	3	3	303	1	0	0	0	0	1	0	0	0	3234	680	24	4	1344	4	CENPJ	13	25478177	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		25478177	89691701	67	11103										
COL4A1	1282	broad.mit.edu	37	chr13	110814789	110814789	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gacctggaaatcctcttggaCctggaagataggagacaaat	11	8	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr13:110814789C>A	ENST00000375820.4	-	48	4371	c.4250G>T	c.(4249-4251)gGt>gTt	p.G1417V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1417	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)			TCCTCTTGGACCTGGAAGATA	0.468																																						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.(4249-4251)gGt>gTt		collagen, type IV, alpha 1							55	62	60					13																	110814789		2203	4300	6503	SO:0001630	splice_region_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110814789C>A	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.4250-1G>T	13.37:g.110814789C>A			Somatic				COL4A1_ENST00000467182.1_5'UTR	p.G1417V	NM_001845.4	NP_001836.2	WXS	Illumina GAIIx	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		48	4371	-	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)	1417			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Splice_Site	SNP	ENST00000375820.4	37	c.4250G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970640	0.53614	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96738	0.9544	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	1417	P02462	CO4A1_HUMAN	V	1060;1417;1066	ENSP00000364979:G1417V	ENSP00000364973:G1060V	G	-	2	0	COL4A1	109612790	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.470000	0.80973	2.378000	0.81104	0.561000	0.74099	GGT		0.468	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		Missense_Mutation	12	38	12	38	---	---	---	---	A	110814789	C	A	110814789	5	1	303	1	0	0	0	0	0	0	1	0	3689	521	18	3	779	3	COL4A1	13	110814789	Splice_Site	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	85336612	110814789	4355089	68	11104										
SLC22A17	51310	broad.mit.edu	37	chr14	23821250	23821250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggcggggcgaagccgctgcaCgaggggtcggtactggtggc	21	10	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:23821250C>T	ENST00000206544.8	-	1	510	c.174G>A	c.(172-174)tcG>tcA	p.S58S	SLC22A17_ENST00000397260.3_De_novo_Start_OutOfFrame|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.S58S	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	58					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)	p.S58S(1)		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)		AGCCGCTGCACGAGGGGTCGG	0.672																																						ENST00000397260.3																			1	Substitution - coding silent(1)	p.S58S(1)	large_intestine(1)	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								solute carrier family 22, member 17							26	22	24					14																	23821250		2200	4299	6499	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821250C>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.174G>A	14.37:g.23821250C>T			Somatic				SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000354772.3_Silent_p.S58S|SLC22A17_ENST00000397267.1_Silent_p.S58S|SLC22A17_ENST00000206544.8_Silent_p.S58S				WXS	Illumina GAIIx	Phase_I	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	0	625	-	all_cancers(95;7.12e-06)							A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Translation_Start_Site	SNP	ENST00000206544.8	37		CCDS9593.1																																																																																				0.672	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		3	4	3	4	---	---	---	---	T	23821250	C	T	23821250	2	4	303	1	0	0	0	0	0	0	0	1	14448	523	19	2		2	SLC22A17	14	23821250	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		23821250	83528290	69	11105										
PSMA6	5687	broad.mit.edu	37	chr14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gcgggagttaaacaaactgaGtcaaccagcttccttgaaaa	9	9	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|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)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(520-522)gaG>gaC		proteasome (prosome, macropain) subunit, alpha type, 6							116	126	123					14																	35782199		2203	4300	6503	SO:0001583	missense	5687				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 NF-kappaB transcription factor activity|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|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782199G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"Proteasome (prosome, macropain) subunits"	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.522G>C	14.37:g.35782199G>C	ENSP00000261479:p.Glu174Asp		Somatic				PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D	p.E174D	NM_002791.1	NP_002782.1	WXS	Illumina GAIIx	Phase_I	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	642	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		174					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.522G>C	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954378	0.53293	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.57	5.57	0.84162	.	0.043981	0.85682	D	0.000000	T	0.28632	0.0709	M	0.70108	2.13	0.80722	D	1	B	0.19583	0.037	B	0.26416	0.069	T	0.04128	-1.0975	10	0.62326	D	0.03	-9.3541	14.1243	0.65210	0.0722:0.0:0.9278:0.0	.	174	P60900	PSA6_HUMAN	D	155;174;180;95;174	ENSP00000444844:E155D;ENSP00000261479:E174D;ENSP00000452603:E180D;ENSP00000452566:E95D;ENSP00000450528:E174D	ENSP00000261479:E174D	E	+	3	2	PSMA6	34851950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.125000	0.42016	2.767000	0.95098	0.655000	0.94253	GAG		0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			9	134	9	134	---	---	---	---	C	35782199	G	C	35782199	3	2	303	1	0	0	0	0	1	0	0	0	12671	1020	36	4	540	4	PSMA6	14	35782199	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	11960949	35782199	71567341	70	11106										
FLVCR2	55640	broad.mit.edu	37	chr14	76091035	76091035	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctctcctgatgcctcatacTtaggttccatcgcccggctc	7	17	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:76091035T>G	ENST00000238667.4	+	3	1248	c.892T>G	c.(892-894)Tta>Gta	p.L298V	FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	298					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGCCTCATACTTAGGTTCCAT	0.473																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(892-894)Tta>Gta		feline leukemia virus subgroup C cellular receptor family, member 2							122	118	119					14																	76091035		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091035T>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.892T>G	14.37:g.76091035T>G	ENSP00000238667:p.Leu298Val		Somatic				FLVCR2_ENST00000556856.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000539311.1_Missense_Mutation_p.L93V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.L46V|FLVCR2_ENST00000556241.1_3'UTR	p.L298V	NM_017791.2	NP_060261.2	WXS	Illumina GAIIx	Phase_I	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1248	+			298					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.892T>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	T	4.336	0.061832	0.08339	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.60040	0.22;0.22;0.24;0.24;0.24	6.02	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.873539	0.10336	N	0.686881	T	0.31888	0.0811	N	0.11106	0.095	0.51233	D	0.999917	B;B	0.06786	0.001;0.001	B;B	0.15870	0.014;0.004	T	0.19877	-1.0292	10	0.13853	T	0.58	-7.5661	3.1161	0.06375	0.1715:0.2837:0.0:0.5448	.	93;298	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	298;93;46;46;46	ENSP00000238667:L298V;ENSP00000443439:L93V;ENSP00000451104:L46V;ENSP00000451603:L46V;ENSP00000452468:L46V	ENSP00000238667:L298V	L	+	1	2	AC007182.1	75160788	0.077000	0.21312	0.502000	0.27614	0.581000	0.36288	0.463000	0.21972	0.970000	0.38263	0.533000	0.62120	TTA		0.473	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		35	41	35	41	---	---	---	---	G	76091035	T	G	76091035	3	3	303	1	0	0	0	0	1	0	0	0	5946	1606	56	5	902	5	FLVCR2	14	76091035	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	40308836	76091035	31258505	71	11107										
CDC42BPB	9578	broad.mit.edu	37	chr14	103442111	103442111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gctgagggcccgagatgagcCgtggagggactgcacggtct	18	10	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr14:103442111C>A	ENST00000361246.2	-	11	1705	c.1417G>T	c.(1417-1419)Ggc>Tgc	p.G473C		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)		CGAGATGAGCCGTGGAGGGAC	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.(1417-1419)Ggc>Tgc		CDC42 binding protein kinase beta (DMPK-like)							130	141	137					14																	103442111		2203	4300	6503	SO:0001583	missense	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.chr14:103442111C>A	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.1417G>T	14.37:g.103442111C>A	ENSP00000355237:p.Gly473Cys		Somatic					p.G473C	NM_006035.3	NP_006026.3	WXS	Illumina GAIIx	Phase_I	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1705	-		Melanoma(154;0.155)	473						Missense_Mutation	SNP	ENST00000361246.2	37	c.1417G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411207	0.42817	.	.	ENSG00000198752	ENST00000361246	T	0.65178	-0.14	5.34	0.706	0.18133	.	0.303033	0.40385	N	0.001113	T	0.63070	0.2480	L	0.57536	1.79	0.43714	D	0.996188	B	0.34241	0.444	P	0.46110	0.504	T	0.58064	-0.7702	10	0.36615	T	0.2	.	9.9133	0.41419	0.0:0.6038:0.0:0.3962	.	473	Q9Y5S2	MRCKB_HUMAN	C	473	ENSP00000355237:G473C	ENSP00000355237:G473C	G	-	1	0	CDC42BPB	102511864	0.023000	0.18921	0.001000	0.08648	0.429000	0.31625	0.562000	0.23531	0.195000	0.20347	-0.145000	0.13849	GGC		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		10	153	10	153	---	---	---	---	A	103442111	C	A	103442111	3	1	303	1	0	0	0	0	1	0	0	0	3073	652	23	1	3826	1	CDC42BPB	14	103442111	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	27351076	103442111	3907429	72	11108										
HERC2	8924	broad.mit.edu	37	chr15	28437220	28437221	+	Missense_Mutation	DNP	CC	CC	AA													0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	caccatgcgggaccagctgtCcagcagcatgcctggctggc							TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:28437220_28437221CC>AA	ENST00000261609.7	-	53	8445_8446	c.8337_8338GG>TT	c.(8335-8340)ctGGac>ctTTac	p.D2780Y		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)		GACCAGCTGTCCAGCAGCATGC	0.569											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(8338-8340)Gac>Tac|c.(8335-8337)ctG>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				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.chr15:28437220C>A|g.chr15:28437221C>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.8337_8338delinsAA	15.37:g.28437220_28437221delinsAA	ENSP00000261609:p.Asp2780Tyr		Somatic	OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.D2780Y|p.L2779L	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	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)	53	8446|8445	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2780|2779			DOC.			Missense_Mutation|Silent	SNP	ENST00000261609.7	37	c.8338G>T|c.8337G>T	CCDS10021.1																																																																																				0.569	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		60|61	81|80	60	80	---	---	---	---	AA	28437221	CC	AA	28437220	3	1	303	1	0	0	0	0	1	0	0	0	7058	855	30	3	6330	3	HERC2	15	28437220	Missense_Mutation	DNP	CC	TCGA-XQ-A8TA-01A-11D-A364-08		28437220	74094172	73	11109										
AP4E1	23431	broad.mit.edu	37	chr15	51221310	51221310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gtttcggaaagcactttgtgAcagagatgttggggtcatgg	15	5	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:51221310A>C	ENST00000261842.5	+	6	753	c.647A>C	c.(646-648)gAc>gCc	p.D216A	AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	216					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GCACTTTGTGACAGAGATGTT	0.353																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(646-648)gAc>gCc		adaptor-related protein complex 4, epsilon 1 subunit							107	105	106					15																	51221310		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51221310A>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.647A>C	15.37:g.51221310A>C	ENSP00000261842:p.Asp216Ala		Somatic				AP4E1_ENST00000560508.1_Missense_Mutation_p.D141A	p.D216A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	WXS	Illumina GAIIx	Phase_I	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	6	753	+			216					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.647A>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571419	0.86542	.	.	ENSG00000081014	ENST00000261842	T	0.46063	0.88	5.5	5.5	0.81552	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75639	-0.3248	10	0.87932	D	0	-12.3762	14.7863	0.69806	1.0:0.0:0.0:0.0	.	216;216	B4DM48;Q9UPM8	.;AP4E1_HUMAN	A	216	ENSP00000261842:D216A	ENSP00000261842:D216A	D	+	2	0	AP4E1	49008602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.091000	0.63221	0.482000	0.46254	GAC		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			12	81	12	81	---	---	---	---	C	51221310	A	C	51221310	3	2	303	1	0	0	0	0	1	0	0	0	752	275	10	5	669	5	AP4E1	15	51221310	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	22784090	51221310	51310082	74	11110										
WDR72	256764	broad.mit.edu	37	chr15	54025336	54025336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	agagtgccactgcctgcaggGaagtcctcattttgggcgaa	13	10	1	1	rs267604260		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:54025336G>T	ENST00000396328.1	-	2	250	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										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)		TGCCTGCAGGGAAGTCCTCAT	0.473																																						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.(10-12)tCc>tAc		WD repeat domain 72							76	70	72					15																	54025336		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54025336G>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.11C>A	15.37:g.54025336G>T	ENSP00000379619:p.Ser4Tyr		Somatic				WDR72_ENST00000559418.1_Missense_Mutation_p.S4Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S4Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S4Y	p.S4Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	WXS	Illumina GAIIx	Phase_I	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	2	250	-			4					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.11C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913386	0.33815	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.37411	1.2;1.2	4.42	1.54	0.23209	.	0.313976	0.27302	N	0.019988	T	0.21590	0.0520	N	0.22421	0.69	0.09310	N	1	B	0.31054	0.306	B	0.31191	0.125	T	0.14254	-1.0479	10	0.46703	T	0.11	.	7.9398	0.29952	0.2878:0.0:0.7122:0.0	.	4	Q3MJ13	WDR72_HUMAN	Y	4	ENSP00000379619:S4Y;ENSP00000353699:S4Y	ENSP00000353699:S4Y	S	-	2	0	WDR72	51812628	0.168000	0.22989	0.024000	0.17045	0.506000	0.33950	1.875000	0.39578	0.632000	0.30432	-0.136000	0.14681	TCC		0.473	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		24	31	24	31	---	---	---	---	T	54025336	G	T	54025336	3	4	303	1	0	0	0	0	1	0	0	0	17319	1174	41	3	3373	3	WDR72	15	54025336	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	2804026	54025336	48506056	75	11111										
PTPN9	5780	broad.mit.edu	37	chr15	75819591	75819591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttgttaatctcttcgagaaaCtgcttggtagcctgtttgac	9	8	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:75819591C>T	ENST00000306726.2	-	2	587	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	25					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						CTTCGAGAAACTGCTTGGTAG	0.393																																						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.(73-75)caG>caA		protein tyrosine phosphatase, non-receptor type 9							99	86	91					15																	75819591		2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75819591C>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.75G>A	15.37:g.75819591C>T			Somatic				CTD-2323K18.1_ENST00000568707.1_RNA	p.Q25Q	NM_002833.2	NP_002824.1	WXS	Illumina GAIIx	Phase_I	P43378	PTN9_HUMAN			2	587	-			25					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.75G>A	CCDS10280.1																																																																																				0.393	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			22	26	22	26	---	---	---	---	T	75819591	C	T	75819591	2	4	303	1	0	0	0	0	0	0	0	1	12794	564	20	2		2	PTPN9	15	75819591	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	21794255	75819591	26711801	76	11112										
IL16	3603	broad.mit.edu	37	chr15	81598853	81598853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggaagggctccctacacggaGacaagcctctcaccattaac	9	14	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:81598853G>A	ENST00000302987.4	+	17	3772	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.D1257N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N			Q14005	IL16_HUMAN	interleukin 16	1258	PDZ 4. {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						CCTACACGGAGACAAGCCTCT	0.577																																						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.(3769-3771)Gac>Aac		interleukin 16							137	138	137					15																	81598853		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.chr15:81598853G>A	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.3772G>A	15.37:g.81598853G>A	ENSP00000302935:p.Asp1258Asn		Somatic				RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000302987.4_Missense_Mutation_p.D1258N|IL16_ENST00000394652.2_Missense_Mutation_p.D557N	p.D1257N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			18	4129	+			1258			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3769G>A	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.724155|4.724155	0.89298|0.89298	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652|ENST00000394656	T;T;T|.	0.41065|.	1.01;1.01;1.01|.	4.09|4.09	4.09|4.09	0.47781|0.47781	PDZ/DHR/GLGF (4);|.	0.000000|.	0.46442|.	D|.	0.000285|.	T|T	0.61615|0.61615	0.2361|0.2361	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	D;D;D;P;P|.	0.89917|.	0.999;1.0;1.0;0.841;0.791|.	D;D;D;D;P|.	0.91635|.	0.999;0.999;0.996;0.923;0.874|.	T|T	0.67496|0.67496	-0.5656|-0.5656	10|6	0.44086|0.87932	T|D	0.13|0	.|.	16.8389|16.8389	0.85963|0.85963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1089;750;647;1258;1257|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	N|K	1257;1089;1258;647;557|555	ENSP00000378155:D1257N;ENSP00000302935:D1258N;ENSP00000378147:D557N|.	ENSP00000302935:D1258N|ENSP00000378151:R555K	D|R	+|+	1|2	0|0	IL16|IL16	79385908|79385908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.537000|0.537000	0.34900|0.34900	8.841000|8.841000	0.92131|0.92131	2.256000|2.256000	0.74724|0.74724	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		40	56	40	56	---	---	---	---	A	81598853	G	A	81598853	3	1	303	1	0	0	0	0	1	0	0	0	7633	942	33	2	3838	2	IL16	15	81598853	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	5779262	81598853	20932539	77	11113										
FES	2242	broad.mit.edu	37	chr15	91437015	91437015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cagacaagtccccgtgaagtGgaccgcacctgaggccctta	11	14	0	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr15:91437015G>T	ENST00000328850.3	+	17	2319	c.2177G>T	c.(2176-2178)tGg>tTg	p.W726L	FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000444422.2_Missense_Mutation_p.W656L|FES_ENST00000450438.2_Missense_Mutation_p.W598L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CCCGTGAAGTGGACCGCACCT	0.617																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2176-2178)tGg>tTg		feline sarcoma oncogene							65	73	70					15																	91437015		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437015G>T	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.2177G>T	15.37:g.91437015G>T	ENSP00000331504:p.Trp726Leu		Somatic				FES_ENST00000394300.3_Missense_Mutation_p.W668L|FES_ENST00000450438.2_Missense_Mutation_p.W598L|FES_ENST00000394302.1_Missense_Mutation_p.W585L|FES_ENST00000414248.2_Missense_Mutation_p.W598L|FES_ENST00000444422.2_Missense_Mutation_p.W656L	p.W726L	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	P07332	FES_HUMAN	Lung(145;0.229)		17	2319	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		726			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2177G>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364914	0.82463	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.37	5.37	0.77165	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	0.89301	0.6676	H	0.98048	4.135	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;0.999;1.0;1.0;1.0	D	0.93165	0.6561	10	0.87932	D	0	-26.3494	19.1664	0.93559	0.0:0.0:1.0:0.0	.	708;598;585;668;656;726	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	726;598;585;656;668;598	ENSP00000331504:W726L;ENSP00000414629:W598L;ENSP00000377839:W585L;ENSP00000400868:W656L;ENSP00000377837:W668L;ENSP00000409915:W598L	ENSP00000331504:W726L	W	+	2	0	FES	89238019	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	9.860000	0.99555	2.544000	0.85801	0.485000	0.47835	TGG		0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		8	85	8	85	---	---	---	---	T	91437015	G	T	91437015	3	4	303	1	0	0	0	0	1	0	0	0	5820	1357	47	1	2239	1	FES	15	91437015	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	9838162	91437015	11094377	78	11114										
TRIM72	493829	broad.mit.edu	37	chr16	31234164	31234164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ccaggctgcagaagatcctgGcagagtctcccccacccgcc	10	18	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:31234164G>T	ENST00000322122.3	+	6	1041	c.757G>T	c.(757-759)Gca>Tca	p.A253S		NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAAGATCCTGGCAGAGTCTCC	0.612																																						ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(757-759)Gca>Tca		tripartite motif containing 72							38	39	39					16																	31234164		2196	4300	6496	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31234164G>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32671	protein-coding gene	gene with protein product	"mitsugumin 53"	613288	"tripartite motif-containing 72", "tripartite motif containing 72"			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.757G>T	16.37:g.31234164G>T	ENSP00000312675:p.Ala253Ser		Somatic					p.A253S	NM_001008274.3	NP_001008275.2	WXS	Illumina GAIIx	Phase_I	Q6ZMU5	TRI72_HUMAN			6	1041	+			253						Missense_Mutation	SNP	ENST00000322122.3	37	c.757G>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474754	0.26511	.	.	ENSG00000177238	ENST00000322122	T	0.62639	0.01	5.04	3.99	0.46301	.	0.632657	0.14521	N	0.314453	T	0.55178	0.1904	L	0.51422	1.61	0.29930	N	0.821953	B	0.02656	0.0	B	0.04013	0.001	T	0.50074	-0.8870	10	0.22109	T	0.4	.	12.8432	0.57815	0.0:0.0:0.7888:0.2112	.	253	Q6ZMU5	TRI72_HUMAN	S	253	ENSP00000312675:A253S	ENSP00000312675:A253S	A	+	1	0	TRIM72	31141665	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.033000	0.41136	0.877000	0.35895	0.561000	0.74099	GCA		0.612	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		3	25	3	25	---	---	---	---	T	31234164	G	T	31234164	3	4	303	1	0	0	0	0	1	0	0	0	16542	1203	42	3	775	3	TRIM72	16	31234164	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		31234164	59120589	79	11115										
B3GNT9	80262	broad.mit.edu	37	chr16	67183601	67183601	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tgctagcccgcgtgcggatgGgccgcgcatgcacaattacg	14	13	0	0	rs376245125		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:67183601G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.P263L	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)		CGTGCGGATGGGCCGCGCATG	0.657																																						ENST00000449549.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(787-789)cCc>cTc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9							13	15	15					16																	67183601		1995	4137	6132	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67183601G>A	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.67183601G>A			Somatic					p.P263L	NM_033309.2	NP_171608.2	WXS	Illumina GAIIx	Phase_I	Q6UX72	B3GN9_HUMAN			2	1323	-			263					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.788C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525536	0.85600	.	.	ENSG00000237172	ENST00000449549	T	0.43688	0.94	5.02	4.04	0.47022	.	.	.	.	.	T	0.74366	0.3707	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82827	-0.0265	9	0.87932	D	0	-24.1261	13.8381	0.63421	0.0:0.1547:0.8453:0.0	.	263	Q6UX72	B3GN9_HUMAN	L	263	ENSP00000400157:P263L	ENSP00000400157:P263L	P	-	2	0	B3GNT9	65741102	1.000000	0.71417	0.983000	0.44433	0.686000	0.39977	9.861000	0.99562	1.054000	0.40438	0.556000	0.70494	CCC		0.657	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		4	15	4	15	---	---	---	---	A	67183601	G	A	67183601	1	1	303	0	1	0	0	0	0	0	0	0	1264	1232	43	2		2	B3GNT9	16	67183601	IGR	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	35949437	67183601	23171152	80	11116										
SF3B3	23450	broad.mit.edu	37	chr16	70589037	70589037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggaaagaaaacaattgtgaaGtgtgcagtgaaccagcgaca	12	6	0	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:70589037G>A	ENST00000302516.5	+	13	1849	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	546					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)				CAATTGTGAAGTGTGCAGTGA	0.463																																						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.(1636-1638)aaG>aaA		splicing factor 3b, subunit 3, 130kDa							241	230	234					16																	70589037		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70589037G>A	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.1638G>A	16.37:g.70589037G>A			Somatic					p.K546K	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			13	1849	+		Ovarian(137;0.0694)	546					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1638G>A	CCDS10894.1																																																																																				0.463	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		67	49	67	49	---	---	---	---	A	70589037	G	A	70589037	2	1	303	1	0	0	0	0	0	0	0	1	14152	1020	36	2		2	SF3B3	16	70589037	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	3405436	70589037	19765716	81	11117										
FTSJD1	55783	broad.mit.edu	37	chr16	71318227	71318227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tggcctaaacttggaatccaAattaaaagctcctcctaatg	6	10	0	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:71318227A>C	ENST00000338099.5	-	3	1933	c.1597T>G	c.(1597-1599)Ttg>Gtg	p.L533V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	533					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TTGGAATCCAAATTAAAAGCT	0.343																																						ENST00000338099.5																			0											c.(1597-1599)Ttg>Gtg		cap methyltransferase 2							42	44	43					16																	71318227		2197	4298	6495	SO:0001583	missense	55783							g.chr16:71318227A>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1597T>G	16.37:g.71318227A>C	ENSP00000337512:p.Leu533Val		Somatic				CMTR2_ENST00000434935.2_Missense_Mutation_p.L533V	p.L533V			WXS	Illumina GAIIx	Phase_I					3	1933	-			533					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1597T>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	1.665	-0.510570	0.04231	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13901	2.55;2.55	5.22	2.89	0.33648	.	0.663600	0.14612	N	0.309000	T	0.05364	0.0142	N	0.08118	0	0.21553	N	0.999645	B	0.06786	0.001	B	0.04013	0.001	T	0.44360	-0.9333	10	0.08837	T	0.75	-30.5681	5.1567	0.15038	0.655:0.2484:0.0967:0.0	.	533	Q8IYT2	FTSJ1_HUMAN	V	533	ENSP00000337512:L533V;ENSP00000411148:L533V	ENSP00000337512:L533V	L	-	1	2	FTSJD1	69875728	0.016000	0.18221	0.998000	0.56505	0.821000	0.46438	0.049000	0.14099	0.406000	0.25560	0.459000	0.35465	TTG		0.343	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		33	19	33	19	---	---	---	---	C	71318227	A	C	71318227	3	2	303	1	0	0	0	0	1	0	0	0	6090	11	1	5	719	5	FTSJD1	16	71318227	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	729190	71318227	19036526	82	11118										
GAS8	2622	broad.mit.edu	37	chr16	90106851	90106851	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gagaagaaggaggtgcagttCaacgaggtcctggctgcctc	15	9	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr16:90106851C>G	ENST00000268699.4	+	9	1277	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|URAHP_ENST00000517889.1_RNA|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	385					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)		AGGTGCAGTTCAACGAGGTCC	0.622																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1153-1155)ttC>ttG		growth arrest-specific 8							72	61	65					16																	90106851		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.chr16:90106851C>G	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.1155C>G	16.37:g.90106851C>G	ENSP00000268699:p.Phe385Leu		Somatic				GAS8_ENST00000536122.1_Missense_Mutation_p.F360L|GAS8_ENST00000540721.1_3'UTR	p.F385L	NM_001481.2	NP_001472.1	WXS	Illumina GAIIx	Phase_I	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	9	1277	+		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)	385					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1155C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	5.076	0.199612	0.09652	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.18960	2.18;2.18	5.68	2.35	0.29111	.	0.345212	0.34725	N	0.003723	T	0.03178	0.0093	N	0.00114	-2.085	0.28390	N	0.919139	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37150	-0.9718	9	.	.	.	-7.5789	5.4659	0.16642	0.1133:0.6259:0.124:0.1367	.	356;385	B7Z1X3;O95995	.;GAS8_HUMAN	L	360;385;356	ENSP00000440977:F360L;ENSP00000268699:F385L	.	F	+	3	2	GAS8	88634352	0.999000	0.42202	0.991000	0.47740	0.816000	0.46133	0.837000	0.27558	0.727000	0.32360	0.650000	0.86243	TTC		0.622	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			14	2	14	2	---	---	---	---	G	90106851	C	G	90106851	3	3	303	1	0	0	0	0	1	0	0	0	6251	825	29	4	1189	4	GAS8	16	90106851	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	18788624	90106851	247902	83	11119										
MYH2	4620	broad.mit.edu	37	chr17	10446277	10446277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	agctggaaaacaactctagaCttctctagcagatctggaag	9	9	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:10446277C>T	ENST00000245503.5	-	10	1203	c.819G>A	c.(817-819)aaG>aaA	p.K273K	MYH2_ENST00000397183.2_Silent_p.K273K|MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	273	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						CAACTCTAGACTTCTCTAGCA	0.313																																						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.(817-819)aaG>aaA		myosin, heavy chain 2, skeletal muscle, adult							46	48	48					17																	10446277		2202	4295	6497	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.chr17:10446277C>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.819G>A	17.37:g.10446277C>T			Somatic				MYH2_ENST00000532183.2_Silent_p.K273K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K273K	p.K273K	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			10	1203	-			273			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.819G>A	CCDS11156.1																																																																																				0.313	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		3	19	3	19	---	---	---	---	T	10446277	C	T	10446277	2	4	303	1	0	0	0	0	0	0	0	1	10035	564	20	2		2	MYH2	17	10446277	Silent	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08		10446277	70748933	84	11120										
CDK12	51755	broad.mit.edu	37	chr17	37676290	37676290	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tgcacagctgaacagaccctAcagagcgacttccttaaaga	8	12	0	4			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:37676290A>G	ENST00000447079.4	+	11	3078	c.3045A>G	c.(3043-3045)ctA>ctG	p.L1015L	CDK12_ENST00000430627.2_Silent_p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1015	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						AACAGACCCTACAGAGCGACT	0.473			"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.(3043-3045)ctA>ctG		cyclin-dependent kinase 12							181	151	161					17																	37676290		2203	4300	6503	SO:0001819	synonymous_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.chr17:37676290A>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.3045A>G	17.37:g.37676290A>G		TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Silent_p.L1015L	p.L1015L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			11	3078	+			1015			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3045A>G	CCDS11337.1																																																																																				0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		33	9	33	9	---	---	---	---	G	37676290	A	G	37676290	2	3	303	1	0	0	0	0	0	0	0	1	3128	378	14	2		2	CDK12	17	37676290	Silent	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08	27230013	37676290	43518920	85	11121										
BRCA1	672	broad.mit.edu	37	chr17	41251796	41251796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aacctgagacccttacccaaTtcaatgtagacagacgtctt	6	12	2	3	rs397507250		TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:41251796T>G	ENST00000357654.3	-	7	661	c.543A>C	c.(541-543)gaA>gaC	p.E181D	BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	181					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|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)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAATTCAATGTAGA	0.378			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(541-543)gaA>gaC	Homologous recombination	breast cancer 1, early onset							129	126	127					17																	41251796		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41251796T>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.543A>C	17.37:g.41251796T>G	ENSP00000350283:p.Glu181Asp	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.E181D|BRCA1_ENST00000352993.3_Missense_Mutation_p.E181D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E181D|BRCA1_ENST00000354071.3_Missense_Mutation_p.E181D|BRCA1_ENST00000493795.1_Missense_Mutation_p.E134D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E181D|BRCA1_ENST00000491747.2_Missense_Mutation_p.E181D|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.E181D|BRCA1_ENST00000591849.1_Intron	p.E181D	NM_007294.3	NP_009225.1	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	661	-		Breast(137;0.000717)	181					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.543A>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.47|10.47	1.358064|1.358064	0.24598|0.24598	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777|ENST00000473961	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.98028|.	-2.67;-2.74;-2.6;-2.72;-2.39;-2.48;-3.05;-2.67;-2.8;-2.32;-2.05;-2.63;-1.93;-3.19;-4.67;-2.87;-2.37|.	5.16|5.16	-1.03|-1.03	0.10102|0.10102	.|.	0.240850|.	0.30109|.	N|.	0.010381|.	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B;B;B;B;B|.	0.33103|.	0.355;0.397;0.274;0.016;0.016;0.016;0.394;0.274;0.016;0.001;0.004|.	B;B;B;B;B;B;B;B;B;B;B|.	0.33690|.	0.1;0.121;0.081;0.012;0.019;0.012;0.168;0.056;0.012;0.002;0.011|.	T|T	0.20806|0.20806	-1.0264|-1.0264	10|5	0.59425|.	D|.	0.04|.	.|.	1.0776|1.0776	0.01636|0.01636	0.1458:0.1666:0.3023:0.3852|0.1458:0.1666:0.3023:0.3852	.|.	180;134;180;181;181;181;181;181;181;181;181|.	E7EUM2;B4DES0;E7ETR2;E7EMP0;E7ERL4;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;.;.;.;BRCA1_HUMAN;.|.	D|T	181;181;181;181;181;181;181;134;181;134;180;180;96;134;97;181;155;181;180|88	ENSP00000350283:E181D;ENSP00000326002:E181D;ENSP00000312236:E181D;ENSP00000246907:E181D;ENSP00000338007:E181D;ENSP00000417148:E181D;ENSP00000377294:E134D;ENSP00000418960:E181D;ENSP00000418775:E134D;ENSP00000420412:E180D;ENSP00000419481:E96D;ENSP00000418819:E134D;ENSP00000418212:E97D;ENSP00000419274:E181D;ENSP00000419988:E155D;ENSP00000419103:E181D;ENSP00000417554:E180D|.	ENSP00000246907:E181D|.	E|N	-|-	3|2	2|0	BRCA1|BRCA1	38505322|38505322	0.696000|0.696000	0.27757|0.27757	0.243000|0.243000	0.24186|0.24186	0.240000|0.240000	0.25518|0.25518	0.114000|0.114000	0.15520|0.15520	-0.095000|-0.095000	0.12351|0.12351	-0.389000|-0.389000	0.06534|0.06534	GAA|AAT		0.378	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		140	105	140	105	---	---	---	---	G	41251796	T	G	41251796	3	3	303	1	0	0	0	0	1	0	0	0	1498	1490	52	5	5186	5	BRCA1	17	41251796	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	3575506	41251796	39943414	86	11122										
OR4D2	124538	broad.mit.edu	37	chr17	56247778	56247778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tccatgatcttcgttccaagCatttacctctatgcccggcc	6	15	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr17:56247778C>A	ENST00000545221.1	+	1	762	c.762C>A	c.(760-762)agC>agA	p.S254R		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	254						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(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCGTTCCAAGCATTTACCTCT	0.537																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(760-762)agC>agA		olfactory receptor, family 4, subfamily D, member 2							184	136	152					17																	56247778		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247778C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.762C>A	17.37:g.56247778C>A	ENSP00000441354:p.Ser254Arg		Somatic					p.S254R	NM_001004707.3	NP_001004707.1	WXS	Illumina GAIIx	Phase_I	P58180	OR4D2_HUMAN			1	762	+			254					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.762C>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531952	0.27387	.	.	ENSG00000255713	ENST00000545221	T	0.00099	8.73	5.71	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.091972	0.47852	D	0.000219	T	0.00300	0.0009	M	0.62088	1.915	0.29298	N	0.868863	D	0.60160	0.987	P	0.62740	0.906	T	0.43015	-0.9417	10	0.87932	D	0	-27.5663	7.1663	0.25693	0.0:0.5095:0.0:0.4905	.	254	P58180	OR4D2_HUMAN	R	254	ENSP00000441354:S254R	ENSP00000441354:S254R	S	+	3	2	OR4D2	53602777	0.373000	0.25073	1.000000	0.80357	0.068000	0.16541	-0.266000	0.08631	0.377000	0.24735	-0.192000	0.12808	AGC		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			33	3	33	3	---	---	---	---	A	56247778	C	A	56247778	3	1	303	1	0	0	0	0	1	0	0	0	11056	709	25	3	764	3	OR4D2	17	56247778	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	14995982	56247778	24947432	87	11123										
ZNF556	80032	broad.mit.edu	37	chr19	2877442	2877442	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttcacccattcctcatccctGataaggcacaaaagagctca	5	14	3	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:2877442G>A	ENST00000307635.2	+	4	573	c.486G>A	c.(484-486)ctG>ctA	p.L162L	ZNF556_ENST00000586426.1_Silent_p.L161L	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	162					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)|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)		CCTCATCCCTGATAAGGCACA	0.428																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(481-483)ctG>ctA		zinc finger protein 556							118	111	113					19																	2877442		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877442G>A	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.486G>A	19.37:g.2877442G>A			Somatic				ZNF556_ENST00000307635.2_Silent_p.L162L	p.L161L			WXS	Illumina GAIIx	Phase_I	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	570	+			162					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.483G>A	CCDS12097.1																																																																																				0.428	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		40	51	40	51	---	---	---	---	A	2877442	G	A	2877442	2	1	303	1	0	0	0	0	0	0	0	1	17984	1277	45	2		2	ZNF556	19	2877442	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		2877442	56251541	88	11124										
PIK3R2	5296	broad.mit.edu	37	chr19	18273222	18273222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ttggatgttcccacagggagGaggtgaacgagaaactccgg	15	8	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:18273222G>T	ENST00000593731.1	+	9	1575	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	339	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	CCACAGGGAGGAGGTGAACGA	0.617																																						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.(1015-1017)Gag>Tag		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							47	39	42					19																	18273222		2203	4300	6503	SO:0001587	stop_gained	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.chr19:18273222G>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.1015G>T	19.37:g.18273222G>T	ENSP00000471914:p.Glu339*		Somatic				PIK3R2_ENST00000222254.8_Nonsense_Mutation_p.E339*	p.E339*			WXS	Illumina GAIIx	Phase_I	O00459	P85B_HUMAN			9	1575	+			339			SH2 1.		Q5EAT5|Q9UPH9	Nonsense_Mutation	SNP	ENST00000593731.1	37	c.1015G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	44	11.035562	0.99506	.	.	ENSG00000105647	ENST00000222254	.	.	.	4.32	4.32	0.51571	.	0.115488	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.3198	16.178	0.81874	0.0:0.0:1.0:0.0	.	.	.	.	X	339	.	ENSP00000222254:E339X	E	+	1	0	PIK3R2	18134222	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.626000	0.98410	2.143000	0.66587	0.491000	0.48974	GAG		0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		13	19	13	19	---	---	---	---	T	18273222	G	T	18273222	4	4	303	1	0	0	0	0	0	1	0	0	11919	1175	41	3	1045	3	PIK3R2	19	18273222	Nonsense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	15395780	18273222	40855761	89	11125										
GIPR	2696	broad.mit.edu	37	chr19	46184863	46184863	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ccgcgcctcctctgggcaggGcttcctggtcagcgtcctct	12	17	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:46184863G>T	ENST00000590918.1	+	13	1253	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	GIPR_ENST00000263281.3_Splice_Site_p.G385V|GIPR_ENST00000304207.8_Splice_Site_p.G349V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	385					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)		TCTGGGCAGGGCTTCCTGGTC	0.652																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(1153-1155)gGc>gTc		gastric inhibitory polypeptide receptor							31	36	35					19																	46184863		2202	4300	6502	SO:0001630	splice_region_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46184863G>T		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.1153-1G>T	19.37:g.46184863G>T			Somatic				GIPR_ENST00000304207.8_Splice_Site_p.G349V|GIPR_ENST00000263281.3_Splice_Site_p.G385V	p.G385V	NM_000164.2	NP_000155.1	WXS	Illumina GAIIx	Phase_I	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	13	1253	+		Ovarian(192;0.051)|all_neural(266;0.112)	385					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Splice_Site	SNP	ENST00000590918.1	37	c.1154G>T	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629076	0.87560	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	D;D	0.84660	-1.88;-1.88	4.81	4.81	0.61882	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.49916	D	0.000121	D	0.93818	0.8023	M	0.93808	3.46	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	0.94879	0.8037	10	0.87932	D	0	.	13.2605	0.60102	0.0:0.0:1.0:0.0	.	349;385;385	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	385;349	ENSP00000263281:G385V;ENSP00000305321:G349V	ENSP00000263281:G385V	G	+	2	0	GIPR	50876703	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	8.966000	0.93397	2.497000	0.84241	0.561000	0.74099	GGC		0.652	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1		Missense_Mutation	4	23	4	23	---	---	---	---	T	46184863	G	T	46184863	5	4	303	1	0	0	0	0	0	0	1	0	6395	1217	42	3	1200	3	GIPR	19	46184863	Splice_Site	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	27911641	46184863	12944120	90	11126										
ZC3H4	23211	broad.mit.edu	37	chr19	47593282	47593282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	tggttcagctctttggtgaaGtcgtcatagtcctccttgcc	10	11	3	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr19:47593282G>T	ENST00000253048.5	-	5	694	c.657C>A	c.(655-657)gaC>gaA	p.D219E	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	219							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)		CTTTGGTGAAGTCGTCATAGT	0.582																																						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.(655-657)gaC>gaA		zinc finger CCCH-type containing 4							134	136	135					19																	47593282		2158	4247	6405	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47593282G>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.657C>A	19.37:g.47593282G>T	ENSP00000253048:p.Asp219Glu		Somatic				ZC3H4_ENST00000594019.1_5'UTR	p.D219E	NM_015168.1	NP_055983.1	WXS	Illumina GAIIx	Phase_I	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)	5	694	-		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)	219					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.657C>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007743	0.54361	.	.	ENSG00000130749	ENST00000253048	T	0.27557	1.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.68317	2.08	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	T	0.43653	-0.9378	10	0.38643	T	0.18	.	12.7607	0.57363	0.0788:0.0:0.9212:0.0	.	219	Q9UPT8	ZC3H4_HUMAN	E	219	ENSP00000253048:D219E	ENSP00000253048:D219E	D	-	3	2	ZC3H4	52285122	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	5.270000	0.65547	2.710000	0.92621	0.655000	0.94253	GAC		0.582	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			18	23	18	23	---	---	---	---	T	47593282	G	T	47593282	3	4	303	1	0	0	0	0	1	0	0	0	17567	1020	36	3	3298	3	ZC3H4	19	47593282	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	1408419	47593282	11535701	91	11127										
PLCB4	5332	broad.mit.edu	37	chr20	9416222	9416222	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cctagatatcgtggatgcttTatcagatccaaagaaatttc	7	8	1	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:9416222T>G	ENST00000378493.1	+	25	2519	c.2504T>G	c.(2503-2505)tTa>tGa	p.L835*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					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						GTGGATGCTTTATCAGATCCA	0.338																																						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.(2503-2505)tTa>tGa		phospholipase C, beta 4							89	96	94					20																	9416222		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9416222T>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.2504T>G	20.37:g.9416222T>G	ENSP00000367754:p.Leu835*		Somatic				PLCB4_ENST00000378493.1_Nonsense_Mutation_p.L835*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.L835*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.L835*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.L847*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.L847*|PLCB4_ENST00000492632.1_3'UTR	p.L835*	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			25	2519	+			835					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2504T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	44	10.546566	0.99425	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	.	.	.	X	835;847;835;835;835;683	.	ENSP00000278655:L835X	L	+	2	0	PLCB4	9364222	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.513000	0.81739	2.288000	0.76882	0.528000	0.53228	TTA		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			14	27	14	27	---	---	---	---	G	9416222	T	G	9416222	4	3	303	1	0	0	0	0	0	1	0	0	12030	1764	61	5	2642	5	PLCB4	20	9416222	Nonsense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08		9416222	53609298	92	11128										
ACSS2	55902	broad.mit.edu	37	chr20	33509154	33509154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	catagccgggcatccttgcaGgtgttaggcacagtgggtga	15	9	0	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:33509154G>T	ENST00000360596.2	+	11	1510	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	433					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)	CATCCTTGCAGGTGTTAGGCA	0.602																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1297-1299)caG>caT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						68	70	70					20																	33509154		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509154G>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.1299G>T	20.37:g.33509154G>T	ENSP00000353804:p.Gln433His		Somatic				ACSS2_ENST00000253382.5_Missense_Mutation_p.Q446H|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Q383H	p.Q433H	NM_018677.3	NP_061147.1	WXS	Illumina GAIIx	Phase_I	Q9NR19	ACSA_HUMAN			11	1510	+			433					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1299G>T	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937453	0.73557	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41758	0.99;0.99;0.99	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.207904	0.48767	D	0.000163	T	0.44329	0.1288	N	0.21282	0.65	0.48135	D	0.999594	P;P	0.37176	0.586;0.586	P;P	0.46419	0.516;0.516	T	0.43861	-0.9365	10	0.87932	D	0	-13.4273	19.6361	0.95733	0.0:0.0:1.0:0.0	.	446;433	Q5QPH3;Q9NR19	.;ACSA_HUMAN	H	383;433;431;141;446	ENSP00000337190:Q383H;ENSP00000353804:Q433H;ENSP00000253382:Q446H	ENSP00000253382:Q446H	Q	+	3	2	ACSS2	32972815	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.250000	0.43178	2.878000	0.98634	0.650000	0.86243	CAG		0.602	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		7	64	7	64	---	---	---	---	T	33509154	G	T	33509154	3	4	303	1	0	0	0	0	1	0	0	0	189	991	35	1	1384	1	ACSS2	20	33509154	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	24092932	33509154	29516366	93	11129										
CEP250	11190	broad.mit.edu	37	chr20	34099346	34099346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ggcccctgaggccactgtccTggaggcagagacccgcaggc	15	15	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr20:34099346T>A	ENST00000397527.1	+	35	7940	c.7220T>A	c.(7219-7221)cTg>cAg	p.L2407Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2407					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)			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)			GCCACTGTCCTGGAGGCAGAG	0.647																																						ENST00000397527.1																			0				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.(7219-7221)cTg>cAg		centrosomal protein 250kDa							49	48	48					20																	34099346		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.chr20:34099346T>A	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.7220T>A	20.37:g.34099346T>A	ENSP00000380661:p.Leu2407Gln		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.L2351Q	p.L2407Q	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7940	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2407					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7220T>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946986	0.73672	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.77877	0.49;0.41;-1.13	4.75	4.75	0.60458	.	0.000000	0.41097	D	0.000952	D	0.87481	0.6188	M	0.77616	2.38	0.38556	D	0.94957	D	0.89917	1.0	D	0.91635	0.999	D	0.90263	0.4302	10	0.87932	D	0	.	14.0853	0.64951	0.0:0.0:0.0:1.0	.	2407	Q9BV73	CP250_HUMAN	Q	2407;2351;842	ENSP00000380661:L2407Q;ENSP00000341541:L2351Q;ENSP00000395992:L842Q	ENSP00000341541:L2351Q	L	+	2	0	CEP250	33562760	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	5.286000	0.65639	2.006000	0.58801	0.459000	0.35465	CTG		0.647	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		3	41	3	41	---	---	---	---	A	34099346	T	A	34099346	3	1	303	1	0	0	0	0	1	0	0	0	3252	1580	55	5	7346	5	CEP250	20	34099346	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	590192	34099346	28926174	94	11130										
MLC1	23209	broad.mit.edu	37	chr22	50500057	50500057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gctctccaggctttctccttGtcgaactccttcagggggct	10	14	3	0			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chr22:50500057G>A	ENST00000311597.5	-	12	1695	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.D333D	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	363					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)		CTTTCTCCTTGTCGAACTCCT	0.642																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1087-1089)gaC>gaT		megalencephalic leukoencephalopathy with subcortical cysts 1							60	57	58					22																	50500057		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50500057G>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.1089C>T	22.37:g.50500057G>A			Somatic				MLC1_ENST00000450140.2_Silent_p.D311D|MLC1_ENST00000395876.2_Silent_p.D363D|MLC1_ENST00000538737.1_Silent_p.D329D|MLC1_ENST00000431262.2_Silent_p.D333D|MLC1_ENST00000535444.1_Silent_p.D284D|MLC1_ENST00000483836.1_5'UTR	p.D363D	NM_015166.3	NP_055981.1	WXS	Illumina GAIIx	Phase_I	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)	12	1695	-		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)	363					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.1089C>T	CCDS14083.1																																																																																				0.642	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		25	25	25	25	---	---	---	---	A	50500057	G	A	50500057	2	1	303	1	0	0	0	0	0	0	0	1	9612	1368	48	2		2	MLC1	22	50500057	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08		50500057	804509	95	11131										
YIPF6	286451	broad.mit.edu	37	chrX	67731784	67731784	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ctcgcatccgggagtttgacAgctccacattaaatgaatct	8	11	1	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:67731784A>T	ENST00000462683.1	+	2	895	c.151A>T	c.(151-153)Agc>Tgc	p.S51C	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	51					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						GGAGTTTGACAGCTCCACATT	0.408																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(151-153)Agc>Tgc		Yip1 domain family, member 6							153	132	139					X																	67731784		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67731784A>T	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.151A>T	X.37:g.67731784A>T	ENSP00000417573:p.Ser51Cys		Somatic				YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron	p.S51C	NM_173834.3	NP_776195.2	WXS	Illumina GAIIx	Phase_I	Q96EC8	YIPF6_HUMAN			2	895	+			51					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.151A>T	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843631	0.51164	.	.	ENSG00000181704	ENST00000462683	T	0.45668	0.89	5.66	4.45	0.53987	.	0.498482	0.25294	N	0.031705	T	0.25232	0.0613	L	0.36672	1.1	0.80722	D	1	P	0.35077	0.483	B	0.25506	0.061	T	0.11494	-1.0585	10	0.41790	T	0.15	-0.0485	4.4136	0.11445	0.5896:0.1612:0.0:0.2492	.	51	Q96EC8	YIPF6_HUMAN	C	51	ENSP00000417573:S51C	ENSP00000417573:S51C	S	+	1	0	YIPF6	67648509	0.994000	0.37717	0.998000	0.56505	0.925000	0.55904	1.748000	0.38308	1.921000	0.55644	0.427000	0.28365	AGC		0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		99	4	99	4	---	---	---	---	T	67731784	A	T	67731784	3	4	303	1	0	0	0	0	1	0	0	0	17479	188	7	5	157	5	YIPF6	23	67731784	Missense_Mutation	SNP	A	TCGA-XQ-A8TA-01A-11D-A364-08		67731784	87538776	96	11132										
XPNPEP2	7512	broad.mit.edu	37	chrX	128894500	128894500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	cccatcaggaggcatacaccCgtgtgctgataggaaatatt	10	10	1	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:128894500C>T	ENST00000371106.3	+	16	1633	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	481						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						GGCATACACCCGTGTGCTGAT	0.552																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1441-1443)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							297	258	271					X																	128894500		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128894500C>T	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.1441C>T	X.37:g.128894500C>T	ENSP00000360147:p.Arg481Cys		Somatic					p.R481C	NM_003399.5	NP_003390.4	WXS	Illumina GAIIx	Phase_I	O43895	XPP2_HUMAN			16	1633	+			481					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1441C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785108	0.31593	.	.	ENSG00000122121	ENST00000371106	T	0.76968	-1.06	5.25	4.3	0.51218	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.89353	3.025	0.30474	N	0.773055	D	0.89917	1.0	D	0.74674	0.984	D	0.86285	0.1670	10	0.42905	T	0.14	-13.6366	12.6804	0.56918	0.1775:0.8225:0.0:0.0	.	481	O43895	XPP2_HUMAN	C	481	ENSP00000360147:R481C	ENSP00000360147:R481C	R	+	1	0	XPNPEP2	128722181	0.952000	0.32445	0.251000	0.24312	0.160000	0.22226	1.965000	0.40471	2.178000	0.69098	0.513000	0.50165	CGT		0.552	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		129	166	129	166	---	---	---	---	T	128894500	C	T	128894500	3	4	303	1	0	0	0	0	1	0	0	0	17440	652	23	2	1503	2	XPNPEP2	23	128894500	Missense_Mutation	SNP	C	TCGA-XQ-A8TA-01A-11D-A364-08	61162716	128894500	26376060	97	11133										
ELF4	2000	broad.mit.edu	37	chrX	129200819	129200819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	ctaggctcagccatcagcagGgaccctgagcctgaggagag	14	12	2	3			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:129200819G>A	ENST00000308167.5	-	9	2248	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	ELF4_ENST00000335997.7_Silent_p.S623S	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						CCATCAGCAGGGACCCTGAGC	0.592			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.(1867-1869)tcC>tcT		E74-like factor 4 (ets domain transcription factor)							79	88	85					X																	129200819		2203	4300	6503	SO:0001819	synonymous_variant	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:129200819G>A	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.1869C>T	X.37:g.129200819G>A			Somatic				ELF4_ENST00000335997.7_Silent_p.S623S	p.S623S	NM_001421.3	NP_001412.1	WXS	Illumina GAIIx	Phase_I	Q99607	ELF4_HUMAN			9	2248	-			623						Silent	SNP	ENST00000308167.5	37	c.1869C>T	CCDS14617.1																																																																																				0.592	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		19	78	19	78	---	---	---	---	A	129200819	G	A	129200819	2	1	303	1	0	0	0	0	0	0	0	1	5056	1219	43	2		2	ELF4	23	129200819	Silent	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	306319	129200819	26069741	98	11134										
MAP7D3	79649	broad.mit.edu	37	chrX	135309468	135309468	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	gtggtgcttcctggtcttccTgatccagccatcctttcttc	8	14	2	1			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:135309468T>A	ENST00000316077.9	-	12	2229	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670					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)					CTGGTCTTCCTGATCCAGCCA	0.448																																						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.(2008-2010)cAg>cTg		MAP7 domain containing 3							206	186	193					X																	135309468		1962	4123	6085	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135309468T>A	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.2009A>T	X.37:g.135309468T>A	ENSP00000318086:p.Gln670Leu		Somatic				MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635L|MAP7D3_ENST00000495432.1_5'UTR	p.Q670L	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			12	2229	-	Acute lymphoblastic leukemia(192;0.000127)		670					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2009A>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.582740	0.46006	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.82	-0.651	0.11454	.	.	.	.	.	T	0.29158	0.0725	L	0.40543	1.245	0.09310	N	1	D;D;D;P	0.58268	0.979;0.982;0.979;0.944	P;P;P;P	0.54759	0.76;0.7;0.76;0.548	T	0.17715	-1.0360	9	0.62326	D	0.03	0.0211	7.1552	0.25632	0.0:0.0874:0.4811:0.4314	.	652;629;670;635	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	635;670;652;629	ENSP00000359695:Q635L;ENSP00000318086:Q670L;ENSP00000359697:Q652L;ENSP00000359694:Q629L	ENSP00000318086:Q670L	Q	-	2	0	MAP7D3	135137134	0.001000	0.12720	0.000000	0.03702	0.247000	0.25773	0.108000	0.15396	-0.313000	0.08728	0.486000	0.48141	CAG		0.448	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			28	38	28	38	---	---	---	---	A	135309468	T	A	135309468	3	1	303	1	0	0	0	0	1	0	0	0	9269	1580	55	5	649	5	MAP7D3	23	135309468	Missense_Mutation	SNP	T	TCGA-XQ-A8TA-01A-11D-A364-08	6108649	135309468	19961092	99	11135										
L1CAM	3897	broad.mit.edu	37	chrX	153130077	153130077	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.09	9	0.968713181754189	1.58377659574468	1.67595406957109	1.48189622993654	1	1	0	aagatatggaacctgaagttGcactggccctccttggggac	12	10	0	2			TCGA-XQ-A8TA-01A-11D-A364-08	TCGA-XQ-A8TA-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dffce40a-683f-46ab-9b42-d6d7b8ab9692	91fc452e-167f-4e2d-968d-2bf477a75cdd	g.chrX:153130077G>C	ENST00000370060.1	-	24	3318	c.3129C>G	c.(3127-3129)tgC>tgG	p.C1043W	L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1043	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					ACCTGAAGTTGCACTGGCCCT	0.597																																						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.(3127-3129)tgC>tgG		L1 cell adhesion molecule							119	114	116					X																	153130077		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130077G>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.3129C>G	X.37:g.153130077G>C	ENSP00000359077:p.Cys1043Trp		Somatic				L1CAM_ENST00000361699.4_Missense_Mutation_p.C1043W|L1CAM_ENST00000370057.3_Missense_Mutation_p.C1043W|L1CAM_ENST00000543994.1_Missense_Mutation_p.C1045W|L1CAM_ENST00000370055.1_Missense_Mutation_p.C1038W|L1CAM_ENST00000361981.3_Missense_Mutation_p.C1038W|L1CAM_ENST00000538883.1_Missense_Mutation_p.C1045W	p.C1043W	NM_001278116.1	NP_001265045.1	WXS	Illumina GAIIx	Phase_I	P32004	L1CAM_HUMAN			24	3318	-	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)		1043			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3129C>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847853	0.32606	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	4.9	2.71	0.32032	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.763357	0.11858	N	0.522666	T	0.73705	0.3621	N	0.19112	0.55	0.42496	D	0.992914	B;P;B	0.43352	0.001;0.804;0.0	B;B;B	0.40375	0.001;0.327;0.0	T	0.70085	-0.4969	10	0.66056	D	0.02	.	5.9481	0.19229	0.1273:0.1971:0.6756:0.0	.	1038;1043;1043	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	1043;1045;1043;1045;1038;1038;1043	ENSP00000359077:C1043W;ENSP00000438430:C1045W;ENSP00000359074:C1043W;ENSP00000439645:C1045W;ENSP00000354712:C1038W;ENSP00000359072:C1038W;ENSP00000355380:C1043W	ENSP00000355380:C1043W	C	-	3	2	L1CAM	152783271	1.000000	0.71417	0.755000	0.31263	0.323000	0.28346	1.592000	0.36676	0.844000	0.35094	0.529000	0.55759	TGC		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		48	65	48	65	---	---	---	---	C	153130077	G	C	153130077	3	2	303	1	0	0	0	0	1	0	0	0	8588	1311	46	4	668	4	L1CAM	23	153130077	Missense_Mutation	SNP	G	TCGA-XQ-A8TA-01A-11D-A364-08	17820609	153130077	2140483	100	11136										
ETV3L	440695	broad.mit.edu	37	chr1	157062700	157062700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	aatgccaggcccctgggaggCtcctaggtcctgggagcagg	16	12	0	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:157062700C>T	ENST00000454449.2	-	5	1111	c.827G>A	c.(826-828)aGc>aAc	p.S276N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	276	Pro-rich.				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)				CCCTGGGAGGCTCCTAGGTCC	0.642																																						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.(826-828)aGc>aAc		ets variant 3-like							24	29	27					1																	157062700		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062700C>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.827G>A	1.37:g.157062700C>T	ENSP00000430271:p.Ser276Asn		Somatic					p.S276N	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	Q6ZN32	ETV3L_HUMAN			5	1111	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	276			Pro-rich.			Missense_Mutation	SNP	ENST00000454449.2	37	c.827G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438136	0.12104	.	.	ENSG00000253831	ENST00000454449	T	0.33865	1.39	3.69	2.68	0.31781	.	.	.	.	.	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B	0.23854	0.092	B	0.18561	0.022	T	0.27297	-1.0078	9	0.17369	T	0.5	.	5.557	0.17121	0.24:0.5597:0.2003:0.0	.	276	Q6ZN32	ETV3L_HUMAN	N	276	ENSP00000430271:S276N	ENSP00000430271:S276N	S	-	2	0	ETV3L	155329324	0.007000	0.16637	0.002000	0.10522	0.022000	0.10575	1.277000	0.33167	1.887000	0.54652	0.491000	0.48974	AGC		0.642	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	21	12	21	---	---	---	---	T	157062700	C	T	157062700	3	4	304	1	0	0	0	0	1	0	0	0	5280	797	28	2	262	2	ETV3L	1	157062700	Missense_Mutation	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08		157062700	92187921	1	11137										
IPO9	55705	broad.mit.edu	37	chr1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	ttaccacttgtgcccatatgAtctgtaacatggaggagctg	10	9	1	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					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						TGCCCATATGATCTGTAACAT	0.438																																						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.(664-666)Atc>Gtc		importin 9							217	204	208					1																	201822199		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201822199A>G	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.664A>G	1.37:g.201822199A>G	ENSP00000354742:p.Ile222Val		Somatic				IPO9_ENST00000464348.1_3'UTR	p.I222V	NM_018085.4	NP_060555.2	WXS	Illumina GAIIx	Phase_I	Q96P70	IPO9_HUMAN			6	733	+			222					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.664A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598912	0.66332	.	.	ENSG00000198700	ENST00000361565	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.45422	1.42	0.80722	D	1	P	0.39116	0.66	B	0.35971	0.215	T	0.56141	-0.8028	10	0.25106	T	0.35	-10.324	13.816	0.63292	1.0:0.0:0.0:0.0	.	222	Q96P70	IPO9_HUMAN	V	222	ENSP00000354742:I222V	ENSP00000354742:I222V	I	+	1	0	IPO9	200088822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.162000	0.67917	0.455000	0.32223	ATC		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		5	182	5	182	---	---	---	---	G	201822199	A	G	201822199	3	3	304	1	0	0	0	0	1	0	0	0	7799	333	12	2	686	2	IPO9	1	201822199	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	44759499	201822199	47428422	2	11138										
LRRTM1	347730	broad.mit.edu	37	chr2	80529581	80529581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	gtctgagctgcctgaggctgGctgggaaacacttccaggac	14	11	1	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:80529581G>A	ENST00000295057.3	-	2	2020	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455					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						CCTGAGGCTGGCTGGGAAACA	0.572										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.(1363-1365)gCc>gTc		leucine rich repeat transmembrane neuronal 1							103	91	95					2																	80529581		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529581G>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.1364C>T	2.37:g.80529581G>A	ENSP00000295057:p.Ala455Val	HNSCC(69;0.2)	Somatic				CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	p.A455V	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	Q86UE6	LRRT1_HUMAN			2	2020	-			455					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1364C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341098	0.81911	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.59756	0.2217	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.57124	-0.7865	9	.	.	.	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	455	Q86UE6	LRRT1_HUMAN	V	455	ENSP00000295057:A455V;ENSP00000386646:A455V	.	A	-	2	0	LRRTM1	80383092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.383000	0.81215	0.561000	0.74099	GCC		0.572	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	27	19	27	---	---	---	---	A	80529581	G	A	80529581	3	1	304	1	0	0	0	0	1	0	0	0	9039	1203	42	2	208	2	LRRTM1	2	80529581	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		80529581	162669792	3	11139										
VWA3B	200403	broad.mit.edu	37	chr2	98844716	98844716	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tggaacagggtcacagtgatCtggagaagatgcaagacctt	13	7	2	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:98844716C>A	ENST00000477737.1	+	15	2275	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	691										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						TCACAGTGATCTGGAGAAGAT	0.433																																						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.(2071-2073)Ctg>Atg		von Willebrand factor A domain containing 3B							108	109	108					2																	98844716		2003	4166	6169	SO:0001583	missense	200403							g.chr2:98844716C>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.2071C>A	2.37:g.98844716C>A	ENSP00000417955:p.Leu691Met		Somatic					p.L691M	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			15	2275	+			691					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2071C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.248042|2.248042	0.39697|0.39697	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.10477|.	2.87|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.247202|.	0.27654|.	N|.	0.018406|.	T|T	0.69869|0.69869	0.3159|0.3159	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;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999|.	T|T	0.69371|0.69371	-0.5163|-0.5163	10|5	0.62326|.	D|.	0.03|.	.|.	12.3672|12.3672	0.55234|0.55234	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	83;691;691;691|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	M|Y	691|101	ENSP00000417955:L691M|.	ENSP00000417955:L691M|.	L|S	+|+	1|2	2|0	VWA3B|VWA3B	98211148|98211148	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	1.367000|1.367000	0.34204|0.34204	1.410000|1.410000	0.46936|0.46936	0.467000|0.467000	0.42956|0.42956	CTG|TCT		0.433	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		19	44	19	44	---	---	---	---	A	98844716	C	A	98844716	3	1	304	1	0	0	0	0	1	0	0	0	17238	912	32	3	2125	3	VWA3B	2	98844716	Missense_Mutation	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	18315135	98844716	144354657	4	11140										
FN1	2335	broad.mit.edu	37	chr2	216269132	216269132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	gtgtggtaaagactccagtgGctttggggctctcttggttg	15	7	1	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:216269132G>A	ENST00000359671.1	-	20	3498	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000354785.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V			P02751	FINC_HUMAN	fibronectin 1	1078	Fibronectin type-III 5. {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)	GACTCCAGTGGCTTTGGGGCT	0.433																																						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.(3232-3234)gCc>gTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94	91	92					2																	216269132		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.chr2:216269132G>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.3233C>T	2.37:g.216269132G>A	ENSP00000352696:p.Ala1078Val		Somatic				FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V	p.A1078V			WXS	Illumina GAIIx	Phase_I	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)	20	3602	-		Renal(323;0.127)	1078			Fibronectin type-III 5.		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.3233C>T		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434468	0.25813	.	.	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	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;2.02;0.58;0.58;0.58;0.58;0.58	5.83	-4.91	0.03085	.	1.064140	0.07298	N	0.873544	T	0.27134	0.0665	N	0.11724	0.165	0.21325	N	0.999729	B;B;B;B;B;B;B;B;B;B	0.19935	0.005;0.0;0.04;0.0;0.001;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.21360	0.012;0.002;0.034;0.003;0.012;0.001;0.007;0.007;0.003;0.011	T	0.31138	-0.9954	10	0.09843	T	0.71	.	8.3336	0.32202	0.5623:0.0:0.2994:0.1384	.	1078;1078;1078;1078;1078;1078;1078;1078;1078;1078	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1078	ENSP00000394423:A1078V;ENSP00000323534:A1078V;ENSP00000338200:A1078V;ENSP00000350534:A1078V;ENSP00000346839:A1078V;ENSP00000352696:A1078V;ENSP00000265312:A1078V;ENSP00000273049:A1078V;ENSP00000349509:A1078V;ENSP00000410422:A1078V;ENSP00000415018:A1078V;ENSP00000399538:A1078V;ENSP00000348285:A1078V	ENSP00000265313:A1078V	A	-	2	0	FN1	215977377	0.136000	0.22515	0.878000	0.34440	0.934000	0.57294	-0.231000	0.09069	-0.752000	0.04728	-0.982000	0.02568	GCC		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	87	6	87	---	---	---	---	A	216269132	G	A	216269132	3	1	304	1	0	0	0	0	1	0	0	0	5962	1203	42	2	4308	2	FN1	2	216269132	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	117424416	216269132	26930241	5	11141										
EVC2	132884	broad.mit.edu	37	chr4	5564760	5564760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	aggggccagttcgccaatggGctccagtgacaggtgtggcc	16	11	0	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:5564760G>A	ENST00000344408.5	-	22	3795	c.3742C>T	c.(3742-3744)Ccc>Tcc	p.P1248S	EVC2_ENST00000310917.2_Missense_Mutation_p.P1168S|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1248					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						TCGCCAATGGGCTCCAGTGAC	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.(3502-3504)Ccc>Tcc		Ellis van Creveld syndrome 2							129	137	134					4																	5564760		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564760G>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.3742C>T	4.37:g.5564760G>A	ENSP00000342144:p.Pro1248Ser		Somatic				EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron	p.P1168S	NM_001166136.1	NP_001159608.1	WXS	Illumina GAIIx	Phase_I	Q86UK5	LBN_HUMAN			22	4233	-			1248					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3502C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070859	0.07228	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.72835	-0.68;-0.69	5.02	1.56	0.23342	.	0.299896	0.33161	N	0.005203	T	0.37293	0.0998	N	0.03608	-0.345	0.58432	D	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.16988	-1.0384	10	0.06891	T	0.86	-13.8807	6.4107	0.21690	0.1362:0.2379:0.6259:0.0	.	1248	Q86UK5	LBN_HUMAN	S	1168;1248	ENSP00000311683:P1168S;ENSP00000342144:P1248S	ENSP00000311683:P1168S	P	-	1	0	EVC2	5615661	0.408000	0.25360	0.996000	0.52242	0.992000	0.81027	0.214000	0.17541	0.458000	0.26988	0.563000	0.77884	CCC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	146	9	146	---	---	---	---	A	5564760	G	A	5564760	3	1	304	1	0	0	0	0	1	0	0	0	5286	1203	42	2	188	2	EVC2	4	5564760	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5564760	185589516	6	11142										
CXCL1	2919	broad.mit.edu	37	chr4	74735480	74735480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	agtgtgaacgtgaagtccccCggaccccactgcgcccaaac	10	16	0	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:74735480C>T	ENST00000395761.3	+	2	262	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	65					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGTCCCCCGGACCCCACT	0.652																																						ENST00000395761.3																			0				lung(2)	2						c.(193-195)ccC>ccT		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							86	104	98					4																	74735480		2203	4300	6503	SO:0001819	synonymous_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735480C>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.195C>T	4.37:g.74735480C>T			Somatic				CXCL1_ENST00000509101.1_3'UTR	p.P65P	NM_001511.3	NP_001502.1	WXS	Illumina GAIIx	Phase_I	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	262	+	Breast(15;0.00102)		65					Q9UCR7	Silent	SNP	ENST00000395761.3	37	c.195C>T	CCDS47074.1																																																																																				0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			37	68	37	68	---	---	---	---	T	74735480	C	T	74735480	2	4	304	1	0	0	0	0	0	0	0	1	4077	639	23	2		2	CXCL1	4	74735480	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08	69170720	74735480	116418796	7	11143										
TNRC18	84629	broad.mit.edu	37	chr7	5353440	5353440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tgctcggctccagggctaagGgggtactggggacctcgtct	16	11	1	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr7:5353440G>A	ENST00000430969.1	-	27	7430	c.7082C>T	c.(7081-7083)cCc>cTc	p.P2361L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2361L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	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)		CAGGGCTAAGGGGGTACTGGG	0.662																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7081-7083)cCc>cTc		trinucleotide repeat containing 18							22	23	23					7																	5353440		1496	3477	4973	SO:0001583	missense	84629						DNA binding	g.chr7:5353440G>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.7082C>T	7.37:g.5353440G>A	ENSP00000395538:p.Pro2361Leu		Somatic				TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L	p.P2361L			WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7430	-		Ovarian(82;0.142)	2361			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7082C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852905	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.14144	2.53;2.55	4.6	4.6	0.57074	.	0.000000	0.32868	N	0.005548	T	0.27313	0.0670	L	0.61218	1.895	0.42544	D	0.993083	D	0.60160	0.987	P	0.54544	0.755	T	0.02661	-1.1127	10	0.62326	D	0.03	.	14.1415	0.65322	0.0:0.0:1.0:0.0	.	2361	O15417	TNC18_HUMAN	L	2361	ENSP00000382452:P2361L;ENSP00000395538:P2361L	ENSP00000382452:P2361L	P	-	2	0	TNRC18	5319966	1.000000	0.71417	0.277000	0.24703	0.902000	0.53008	5.505000	0.66981	2.102000	0.63906	0.462000	0.41574	CCC		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	18	10	18	---	---	---	---	A	5353440	G	A	5353440	3	1	304	1	0	0	0	0	1	0	0	0	16336	1232	43	2	1840	2	TNRC18	7	5353440	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5353440	153785223	8	11144										
INTS9	55756	broad.mit.edu	37	chr8	28692856	28692856	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	gaggcagactgagcctttggCactctttcaatgaaattcac	9	10	3	3			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28692856C>A	ENST00000521022.1	-	6	522	c.441G>T	c.(439-441)gtG>gtT	p.V147V	INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000416984.2_Silent_p.V126V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	147					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				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)		GAGCCTTTGGCACTCTTTCAA	0.443																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(376-378)gtG>gtT		integrator complex subunit 9							109	98	102					8																	28692856		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28692856C>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.441G>T	8.37:g.28692856C>A			Somatic				INTS9_ENST00000521022.1_Silent_p.V147V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V	p.V126V	NM_001145159.2	NP_001138631.1	WXS	Illumina GAIIx	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	5	737	-		Ovarian(32;0.0439)	147					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.378G>T	CCDS34873.1																																																																																				0.443	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	37	3	37	---	---	---	---	A	28692856	C	A	28692856	2	1	304	1	0	0	0	0	0	0	0	1	7785	697	25	3		3	INTS9	8	28692856	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08		28692856	117671166	9	11145										
MTDH	92140	broad.mit.edu	37	chr8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tctaccacttctgattatcaGtgggatgttagccgtaatca	8	9	4	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					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)			CTGATTATCAGTGGGATGTTA	0.328																																						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.(1093-1095)caG>caT		metadherin							143	137	139					8																	98712028		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.chr8:98712028G>T	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.1095G>T	8.37:g.98712028G>T	ENSP00000338235:p.Gln365His		Somatic				MTDH_ENST00000519934.1_Intron	p.Q365H	NM_178812.3	NP_848927.2	WXS	Illumina GAIIx	Phase_I	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		7	1423	+	Breast(36;2.56e-06)		365					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1095G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780053	0.70222	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.50001	0.76	5.19	5.19	0.71726	.	0.645248	0.16322	N	0.219517	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.9369	12.7011	0.57034	0.0792:0.0:0.9208:0.0	.	365	Q86UE4	LYRIC_HUMAN	H	365;35	ENSP00000338235:Q365H	ENSP00000338235:Q365H	Q	+	3	2	MTDH	98781204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.581000	0.87130	0.561000	0.74099	CAG		0.328	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			31	56	31	56	---	---	---	---	T	98712028	G	T	98712028	3	4	304	1	0	0	0	0	1	0	0	0	9917	1020	36	3	1121	3	MTDH	8	98712028	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	70019172	98712028	47651994	10	11146										
HHEX	3087	broad.mit.edu	37	chr10	94454307	94454307	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tcatttcctttattcaggagAaccctcaaagcaataaaaaa	4	9	3	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454307A>C	ENST00000282728.5	+	4	2394	c.595A>C	c.(595-597)Aac>Cac	p.N199H	HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	199					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TATTCAGGAGAACCCTCAAAG	0.368																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(595-597)Aac>Cac		hematopoietically expressed homeobox							52	55	54					10																	94454307		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454307A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.595A>C	10.37:g.94454307A>C	ENSP00000282728:p.Asn199His		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	p.N199H	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2394	+			199					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.595A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019033	0.75275	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91011	-2.77;-1.71;-1.71	5.34	5.34	0.76211	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.34521	1.04	0.47341	D	0.999398	D	0.69078	0.997	D	0.64687	0.928	D	0.92027	0.5630	10	0.48119	T	0.1	-10.8346	15.4877	0.75578	1.0:0.0:0.0:0.0	.	199	Q03014	HHEX_HUMAN	H	199;27;27	ENSP00000282728:N199H;ENSP00000450017:N27H;ENSP00000447953:N27H	ENSP00000282728:N199H	N	+	1	0	HHEX	94444287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.235000	0.78143	2.248000	0.74166	0.533000	0.62120	AAC		0.368	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			11	13	11	13	---	---	---	---	C	94454307	A	C	94454307	3	2	304	1	0	0	0	0	1	0	0	0	7091	246	9	5	609	5	HHEX	10	94454307	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08		94454307	41080440	11	11147			1	26		3	3	111	A		3.027617e-09
HHEX	3087	broad.mit.edu	37	chr10	94454330	94454330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	cctcaaagcaataaaaaagaAgaactggaaagtttggacag	9	6	1	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454330A>C	ENST00000282728.5	+	4	2417	c.618A>C	c.(616-618)gaA>gaC	p.E206D	HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	206					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAAAAAAGAAGAACTGGAAA	0.393																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)gaA>gaC		hematopoietically expressed homeobox							72	75	74					10																	94454330		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454330A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.618A>C	10.37:g.94454330A>C	ENSP00000282728:p.Glu206Asp		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	p.E206D	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2417	+			206					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.618A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345676	0.24426	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91180	-2.8;-1.69;-1.69	4.93	-5.94	0.02247	.	0.173336	0.49305	N	0.000143	T	0.70631	0.3246	N	0.12746	0.255	0.23984	N	0.996269	B	0.02656	0.0	B	0.01281	0.0	T	0.63047	-0.6724	10	0.17832	T	0.49	-0.859	1.7607	0.02992	0.2779:0.096:0.3335:0.2927	.	206	Q03014	HHEX_HUMAN	D	206;34;34	ENSP00000282728:E206D;ENSP00000450017:E34D;ENSP00000447953:E34D	ENSP00000282728:E206D	E	+	3	2	HHEX	94444310	0.973000	0.33851	0.921000	0.36526	0.992000	0.81027	0.368000	0.20399	-0.926000	0.03770	0.533000	0.62120	GAA		0.393	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			12	20	12	20	---	---	---	---	C	94454330	A	C	94454330	3	2	304	1	0	0	0	0	1	0	0	0	7091	69	3	5	632	5	HHEX	10	94454330	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	23	94454330	41080417	12	11148			1	26		3	3	111	A		3.027617e-09
HHEX	3087	broad.mit.edu	37	chr10	94454417	94454417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	gcttctttggatagctctcaAtgttcgccctcccctgcctc	7	16	2	0			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454417A>C	ENST00000282728.5	+	4	2504	c.705A>C	c.(703-705)caA>caC	p.Q235H	HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	235					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAGCTCTCAATGTTCGCCCT	0.438																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(703-705)caA>caC		hematopoietically expressed homeobox							107	105	106					10																	94454417		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454417A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.705A>C	10.37:g.94454417A>C	ENSP00000282728:p.Gln235His		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	p.Q235H	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2504	+			235					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.705A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676406	0.67928	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91351	-2.83;-1.69;-1.69	5.44	-10.9	0.00192	.	0.470214	0.22060	N	0.065189	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	0.999992	D	0.61697	0.99	D	0.72982	0.979	D	0.86610	0.1872	10	0.72032	D	0.01	-0.6761	13.8864	0.63710	0.1723:0.0:0.7571:0.0706	.	235	Q03014	HHEX_HUMAN	H	235;63;63	ENSP00000282728:Q235H;ENSP00000450017:Q63H;ENSP00000447953:Q63H	ENSP00000282728:Q235H	Q	+	3	2	HHEX	94444397	0.017000	0.18338	0.009000	0.14445	0.941000	0.58515	-0.734000	0.04893	-1.859000	0.01156	-0.993000	0.02533	CAA		0.438	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			17	27	17	27	---	---	---	---	C	94454417	A	C	94454417	3	2	304	1	0	0	0	0	1	0	0	0	7091	98	4	5	719	5	HHEX	10	94454417	Missense_Mutation	SNP	A	TCGA-XQ-A8TB-01A-11D-A364-08	87	94454417	41080330	13	11149			1	26		3	3	111	A		3.027617e-09
PDCD11	22984	broad.mit.edu	37	chr10	105201643	105201643	+	Frame_Shift_Del	DEL	A	A	-													0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tgtcttcaggcttcgcttggAatgtgggactagactctctg							TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:105201643delA	ENST00000369797.3	+	31	4712	c.4618delA	c.(4618-4620)aatfs	p.N1540fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1540					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)		CTTCGCTTGGAATGTGGGACT	0.577																																						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.(4618-4620)aatfs		programmed cell death 11							50	56	54					10																	105201643		2203	4300	6503	SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201643delA	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.4618delA	10.37:g.105201643delA	ENSP00000358812:p.Asn1540fs		Somatic					p.N1540fs	NM_014976.1	NP_055791.1	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4712	+		Colorectal(252;0.0747)|Breast(234;0.128)	1540					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Del	DEL	ENST00000369797.3	37	c.4618delA	CCDS31276.1																																																																																				0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	25	10	25	---	---	---	---	-	105201643	A	-	105201643	7	5	304	1	0	1	0	1	0	0	0	0	11617	246	9	0	4736	0	PDCD11	10	105201643	Frame_Shift_Del	DEL	A	TCGA-XQ-A8TB-01A-11D-A364-08	10747226	105201643	30333104	14	11150										
OR51M1	390059	broad.mit.edu	37	chr11	5410912	5410912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	cacgttgcccaccactatggGgatcttctggtttaactccc	8	14	2	0	rs202231256	byFrequency	TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:5410912G>A	ENST00000328611.3	+	1	306	c.284G>A	c.(283-285)gGg>gAg	p.G95E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	95					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)		ACCACTATGGGGATCTTCTGG	0.507																																						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.(283-285)gGg>gAg		olfactory receptor, family 51, subfamily M, member 1							163	151	155					11																	5410912		2008	4199	6207	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410912G>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.284G>A	11.37:g.5410912G>A	ENSP00000333196:p.Gly95Glu		Somatic				HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.G95E	NM_001004756.2	NP_001004756.2	WXS	Illumina GAIIx	Phase_I	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	306	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.284G>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788860	0.31685	.	.	ENSG00000184698	ENST00000328611	T	0.04406	3.63	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34291	U	0.004087	T	0.10852	0.0265	L	0.58669	1.825	0.09310	N	1	P	0.48089	0.905	P	0.52598	0.703	T	0.04481	-1.0948	10	0.66056	D	0.02	.	8.9659	0.35877	0.0827:0.1503:0.7671:0.0	.	84	Q9H341	O51M1_HUMAN	E	95	ENSP00000333196:G95E	ENSP00000333196:G95E	G	+	2	0	OR51M1	5367488	0.005000	0.15991	0.668000	0.29813	0.063000	0.16089	1.523000	0.35932	1.403000	0.46800	0.650000	0.86243	GGG		0.507	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		35	81	35	81	---	---	---	---	A	5410912	G	A	5410912	3	1	304	1	0	0	0	0	1	0	0	0	11103	1232	43	2	286	2	OR51M1	11	5410912	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		5410912	129595604	15	11151										
PRPF40B	25766	broad.mit.edu	37	chr12	50036730	50036730	+	Frame_Shift_Del	DEL	C	C	-													0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	cagactgaatgccagcacctCcacaccaaaggccgaaagca							TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:50036730delC	ENST00000380281.1	+	21	2137	c.2073delC	c.(2071-2073)ctcfs	p.L691fs	PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.L678fs|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	691					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						GCCAGCACCTCCACACCAAAG	0.542																																						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.(2032-2034)ctcfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							126	103	111					12																	50036730		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036730delC	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.2073delC	12.37:g.50036730delC	ENSP00000369634:p.Leu691fs		Somatic				FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs	p.L678fs			WXS	Illumina GAIIx	Phase_I	Q6NWY9	PR40B_HUMAN			21	2585	+			691					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.2034delC																																																																																					0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		2	4	2	4	---	---	---	---	-	50036730	C	-	50036730	7	5	304	1	0	1	0	1	0	0	0	0	12572	842	30	0	2155	0	PRPF40B	12	50036730	Frame_Shift_Del	DEL	C	TCGA-XQ-A8TB-01A-11D-A364-08		50036730	83815165	16	11152										
NOS1	4842	broad.mit.edu	37	chr12	117657907	117657907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	cggctgatgaatacgccggcGtcctctgccgagagcttccc	12	15	1	3			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:117657907G>A	ENST00000338101.4	-	27	4249	c.4245C>T	c.(4243-4245)gaC>gaT	p.D1415D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.D1381D			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)	p.D1381D(1)		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)		ATACGCCGGCGTCCTCTGCCG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.D1381D(1)	large_intestine(1)	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.(4141-4143)gaC>gaT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						96	108	104					12																	117657907		2143	4253	6396	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.chr12:117657907G>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.4245C>T	12.37:g.117657907G>A			Somatic				NOS1_ENST00000338101.4_Silent_p.D1415D|NOS1_ENST00000344089.3_3'UTR	p.D1381D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4828	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1381						Silent	SNP	ENST00000338101.4	37	c.4143C>T	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			29	72	29	72	---	---	---	---	A	117657907	G	A	117657907	2	1	304	1	0	0	0	0	0	0	0	1	10541	1136	40	2		2	NOS1	12	117657907	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08	67621177	117657907	16193988	17	11153										
DIO3	1735	broad.mit.edu	37	chr14	102027947	102027947	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	ctgcttcactccttgaggctCtgcgcccagaccgcctcgtg	10	17	2	2			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:102027947C>T	ENST00000510508.4	+	1	260	c.114C>T	c.(112-114)ctC>ctT	p.L38L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.L12L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	38					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)				CCTTGAGGCTCTGCGCCCAGA	0.657																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(34-36)ctC>ctT		deiodinase, iodothyronine, type III							30	34	33					14																	102027947		2152	4252	6404	SO:0001819	synonymous_variant	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.chr14:102027947C>T	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.114C>T	14.37:g.102027947C>T			Somatic				DIO3_ENST00000510508.4_Silent_p.L38L	p.L12L	NM_001362.3	NP_001353.4	WXS	Illumina GAIIx	Phase_I	P55073	IOD3_HUMAN			1	260	+		all_neural(303;0.185)	12					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.36C>T	CCDS41992.2																																																																																				0.657	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		10	25	10	25	---	---	---	---	T	102027947	C	T	102027947	2	4	304	1	0	0	0	0	0	0	0	1	4526	900	32	2		2	DIO3	14	102027947	Silent	SNP	C	TCGA-XQ-A8TB-01A-11D-A364-08		102027947	5321593	18	11154										
NEK8	284086	broad.mit.edu	37	chr17	27062354	27062354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	ccctgggctgtgtcctctacGagctggccagcctcaagagg	13	14	2	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:27062354G>A	ENST00000268766.6	+	4	617	c.583G>A	c.(583-585)Gag>Aag	p.E195K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTCCTCTACGAGCTGGCCAG	0.602																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(583-585)Gag>Aag		NIMA-related kinase 8							43	41	41					17																	27062354		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27062354G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.583G>A	17.37:g.27062354G>A	ENSP00000268766:p.Glu195Lys		Somatic				NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.E195K	NM_178170.2	NP_835464.1	WXS	Illumina GAIIx	Phase_I	Q86SG6	NEK8_HUMAN			4	617	+	Lung NSC(42;0.0158)		195			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.583G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319888	0.97471	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.36878	1.23;1.23	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	0.67915	0.2944	M	0.92077	3.27	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	T	0.76132	-0.3071	10	0.87932	D	0	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	195	Q86SG6	NEK8_HUMAN	K	195	ENSP00000465859:E195K;ENSP00000268766:E195K	ENSP00000268766:E195K	E	+	1	0	NEK8	24086481	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GAG		0.602	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			7	16	7	16	---	---	---	---	A	27062354	G	A	27062354	3	1	304	1	0	0	0	0	1	0	0	0	10330	1059	37	2	597	2	NEK8	17	27062354	Missense_Mutation	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		27062354	54132856	19	11155										
AARSD1	80755	broad.mit.edu	37	chr17	41107892	41107892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tcagtgctttttcagttccaTgacttctctccatccacttc	4	14	3	1			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:41107892T>C	ENST00000427569.2	-	7	796	c.761A>G	c.(760-762)cAt>cGt	p.H254R	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.H428R|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	254					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCAGTTCCATGACTTCTCTC	0.438																																						ENST00000421990.2																			0											c.(1282-1284)cAt>cGt									209	200	203					17																	41107892		2203	4300	6503	SO:0001583	missense	100885850							g.chr17:41107892T>C	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.761A>G	17.37:g.41107892T>C	ENSP00000400870:p.His254Arg		Somatic				AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R	p.H428R	NM_001136042.2	NP_001129514.2	WXS	Illumina GAIIx	Phase_I					12	1628	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1283A>G	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.633956|3.633956	0.67130|0.67130	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601|ENST00000441280	T;T|.	0.42513|.	0.97;0.97|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.125797|.	0.53938|.	D|.	0.000042|.	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.50333|0.50333	1.59|1.59	0.35422|.	D|.	0.793350|.	P;P;P;B|.	0.46706|.	0.815;0.607;0.883;0.182|.	B;B;B;B|.	0.38458|.	0.274;0.177;0.274;0.084|.	T|T	0.66779|0.66779	-0.5837|-0.5837	9|4	0.31617|.	T|.	0.26|.	-16.9889|-16.9889	15.6523|15.6523	0.77108|0.77108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	428;337;385;254|.	B4DI73;C9J5N1;B3KSP9;Q9BTE6|.	.;.;.;AASD1_HUMAN|.	R|V	367;428;428;254;337;136|260	ENSP00000386621:H428R;ENSP00000409924:H428R|.	ENSP00000353355:H367R|.	H|M	-|-	2|1	0|0	AARSD1|AARSD1	38361418|38361418	1.000000|1.000000	0.71417|0.71417	0.857000|0.857000	0.33713|0.33713	0.992000|0.992000	0.81027|0.81027	7.875000|7.875000	0.87205|0.87205	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.438	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		5	155	5	155	---	---	---	---	C	41107892	T	C	41107892	3	2	304	1	0	0	0	0	1	0	0	0	21	1464	51	2	501	2	AARSD1	17	41107892	Missense_Mutation	SNP	T	TCGA-XQ-A8TB-01A-11D-A364-08	14045538	41107892	40087318	20	11156										
PEG3	5178	broad.mit.edu	37	chr19	57326531	57326531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	tccttctgagggtcttccatGtctgagccttgaatgacagg	11	10	3	4			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:57326531G>A	ENST00000326441.9	-	10	3642	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1093					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)			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)		GGTCTTCCATGTCTGAGCCTT	0.522																																						ENST00000326441.9																			0				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.(3277-3279)gaC>gaT		paternally expressed 3							124	118	120					19																	57326531		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326531G>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.3279C>T	19.37:g.57326531G>A			Somatic				PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|ZIM2_ENST00000593711.1_Intron	p.D1093D	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3642	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1093					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3279C>T	CCDS12948.1																																																																																				0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			41	60	41	60	---	---	---	---	A	57326531	G	A	57326531	2	1	304	1	0	0	0	0	0	0	0	1	11720	1368	48	2		2	PEG3	19	57326531	Silent	SNP	G	TCGA-XQ-A8TB-01A-11D-A364-08		57326531	1802452	21	11157										
MICAL3	57553	broad.mit.edu	37	chr22	18389469	18389477	+	In_Frame_Del	DEL	TCACAGAGC	TCACAGAGC	-													0.0454545454545455	1	1	0.630402384500745	NA	0.630402384500745	1	1	0	ttggctttagttccaggtggTcacagagctcctggaaagcc							TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:18389469_18389477delTCACAGAGC	ENST00000441493.2	-	2	454_462	c.102_110delGCTCTGTGA	c.(100-111)gagctctgtgac>gac	p.ELC34del	MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	34	Monooxygenase domain. {ECO:0000250}.				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)		TTCCAGGTGGTCACAGAGCTCCTGGAAAG	0.526																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(100-111)gagctctgtgac>gac		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001651	inframe_deletion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389469_18389477delTCACAGAGC	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.102_110delGCTCTGTGA	22.37:g.18389469_18389477delTCACAGAGC	ENSP00000416015:p.Glu34_Cys36del		Somatic				MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del	p.ELC34del	NM_015241.2	NP_056056.2	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	454_462	-		all_epithelial(15;0.198)	34					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	c.102_110delGCTCTGTGA	CCDS46659.1																																																																																				0.526	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			13	148	13	148	---	---	---	---	-	18389477	TCACAGAGC	-	18389469	7	5	304	1	0	1	0	1	0	0	0	0	9571	1667	58	0	6759	0	MICAL3	22	18389469	In_Frame_Del	DEL	TCACAGAGC	TCGA-XQ-A8TB-01A-11D-A364-08		18389469	32915097	22	11158										
CFHR2	3080	broad.mit.edu	37	chr1	196928040	196928040	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	taatatcacaagaaattatgGaaaaatataacataaaatta	3	3	1	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:196928040G>T	ENST00000367415.5	+	5	743	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*|CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284																																						ENST00000367415.5																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(643-645)Gaa>Taa		complement factor H-related 2							35	37	36					1																	196928040		2180	4278	6458	SO:0001587	stop_gained	3080					extracellular region		g.chr1:196928040G>T	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.643G>T	1.37:g.196928040G>T	ENSP00000356385:p.Glu215*		Somatic				CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*	p.E215*	NM_005666.2	NP_005657.1	WXS	Illumina GAIIx	Phase_I	P36980	FHR2_HUMAN			5	743	+						Sushi 4.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367415.5	37	c.643G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.833	0.940290	0.18281	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	.	.	.	3.2	-0.313	0.12754	.	0.716365	0.11454	N	0.562462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.0532	0.25085	0.3807:0.0:0.6193:0.0	.	.	.	.	X	215	.	ENSP00000356385:E215X	E	+	1	0	CFHR2	195194663	0.060000	0.20803	0.002000	0.10522	0.014000	0.08584	-0.332000	0.07904	-0.187000	0.10516	0.543000	0.68304	GAA		0.284	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		9	45	9	45	---	---	---	---	T	196928040	G	T	196928040	4	4	305	1	0	0	0	0	0	1	0	0	3285	1175	41	3	661	3	CFHR2	1	196928040	Nonsense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		196928040	52322581	1	11159										
FGB	2244	broad.mit.edu	37	chr4	155490938	155490938	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tcttcagcacgtatgacagaGacaatgacggctggtatgtg	12	8	2	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr4:155490938G>T	ENST00000302068.4	+	7	1294	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.D192Y	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	411	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)	GTATGACAGAGACAATGACGG	0.428																																					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.(1231-1233)Gac>Tac		fibrinogen beta chain	Sucralfate(DB00364)						147	125	133					4																	155490938		2203	4300	6503	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.chr4:155490938G>T		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.1231G>T	4.37:g.155490938G>T	ENSP00000306099:p.Asp411Tyr		Somatic				FGB_ENST00000509493.1_Missense_Mutation_p.D192Y|FGB_ENST00000502545.1_Intron	p.D411Y	NM_005141.4	NP_005132.2	WXS	Illumina GAIIx	Phase_I	P02675	FIBB_HUMAN			7	1294	+	all_hematologic(180;0.215)	Renal(120;0.0458)	411			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1231G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152366	0.78001	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.86562	-2.14;-2.14	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	394;411	B4E1D3;P02675	.;FIBB_HUMAN	Y	411;394;192	ENSP00000306099:D411Y;ENSP00000426757:D192Y	ENSP00000306099:D411Y	D	+	1	0	FGB	155710388	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.827000	0.99397	2.861000	0.98227	0.655000	0.94253	GAC		0.428	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		14	58	14	58	---	---	---	---	T	155490938	G	T	155490938	3	4	305	1	0	0	0	0	1	0	0	0	5831	942	33	3	1257	3	FGB	4	155490938	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		155490938	35663338	2	11160										
MAP1B	4131	broad.mit.edu	37	chr5	71492635	71492635	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	gatgagaccaacaatgaagaGacggagtccccttctcagga	11	10	1	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:71492635G>A	ENST00000296755.7	+	5	3751	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1151					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)		ACAATGAAGAGACGGAGTCCC	0.453																																					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.(3451-3453)gaG>gaA		microtubule-associated protein 1B							62	60	61					5																	71492635		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492635G>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.3453G>A	5.37:g.71492635G>A			Somatic					p.E1151E	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3751	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1151					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3453G>A	CCDS4012.1																																																																																				0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	39	4	39	---	---	---	---	A	71492635	G	A	71492635	2	1	305	1	0	0	0	0	0	0	0	1	9228	933	33	2		2	MAP1B	5	71492635	Silent	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		71492635	109422625	3	11161										
ANXA6	309	broad.mit.edu	37	chr5	150510817	150510817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tagccttgaagagcctttcaGcaaaatattccggggtgctc	10	10	1	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:150510817G>T	ENST00000354546.5	-	11	997	c.770C>A	c.(769-771)gCt>gAt	p.A257D	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D|ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	257					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)			GAGCCTTTCAGCAAAATATTC	0.527																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(769-771)gCt>gAt		annexin A6							143	145	144					5																	150510817		1889	4125	6014	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150510817G>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.770C>A	5.37:g.150510817G>T	ENSP00000346550:p.Ala257Asp		Somatic				ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D	p.A257D	NM_001155.4	NP_001146.2	WXS	Illumina GAIIx	Phase_I	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	997	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	257					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.770C>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115507	0.94339	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.33654	1.4;1.4;1.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89549	0.3798	10	0.87932	D	0	.	17.794	0.88564	0.0:0.0:1.0:0.0	.	257;257	A6NN80;P08133	.;ANXA6_HUMAN	D	257;225;257;131	ENSP00000346550:A257D;ENSP00000430517:A225D;ENSP00000348889:A257D	ENSP00000346550:A257D	A	-	2	0	ANXA6	150491010	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	8.379000	0.90146	2.496000	0.84212	0.655000	0.94253	GCT		0.527	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		4	136	4	136	---	---	---	---	T	150510817	G	T	150510817	3	4	305	1	0	0	0	0	1	0	0	0	722	971	34	3	1315	3	ANXA6	5	150510817	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	79018182	150510817	30404443	4	11162										
FGD2	221472	broad.mit.edu	37	chr6	36993603	36993603	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tgctccgactaccgggccgaActgaaatacgacgacaacag	10	13	0	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr6:36993603A>G	ENST00000274963.8	+	14	1665	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					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						ACCGGGCCGAACTGAAATACG	0.622																																						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.(1492-1494)gaA>gaG		FYVE, RhoGEF and PH domain containing 2							140	110	120					6																	36993603		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:36993603A>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.1494A>G	6.37:g.36993603A>G			Somatic					p.E498E	NM_173558.3	NP_775829.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			14	1665	+			498					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1494A>G	CCDS4829.1																																																																																				0.622	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		6	48	6	48	---	---	---	---	G	36993603	A	G	36993603	2	3	305	1	0	0	0	0	0	0	0	1	5833	40	2	2		2	FGD2	6	36993603	Silent	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		36993603	134121464	5	11163										
CLN8	2055	broad.mit.edu	37	chr8	1728426	1728426	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ctccatgcaggcgggctggtCcgagtctctgttttggaagc	14	11	1	0			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:1728426C>G	ENST00000331222.4	+	3	801	c.554C>G	c.(553-555)tCc>tGc	p.S185C	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	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)		GCGGGCTGGTCCGAGTCTCTG	0.463																																					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.(553-555)tCc>tGc		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							124	97	106					8																	1728426		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.chr8:1728426C>G	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.554C>G	8.37:g.1728426C>G	ENSP00000328182:p.Ser185Cys		Somatic				CLN8_ENST00000523237.1_3'UTR	p.S185C	NM_018941.3	NP_061764.2	WXS	Illumina GAIIx	Phase_I	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	801	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	185			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.554C>G	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830021	0.32329	.	.	ENSG00000182372	ENST00000331222	D	0.85556	-2.0	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.194277	0.31507	U	0.007533	T	0.80204	0.4580	L	0.31294	0.92	0.54753	D	0.99998	B	0.18461	0.028	B	0.17433	0.018	T	0.75912	-0.3150	10	0.54805	T	0.06	-14.436	18.6661	0.91491	0.0:1.0:0.0:0.0	.	185	Q9UBY8	CLN8_HUMAN	C	185	ENSP00000328182:S185C	ENSP00000328182:S185C	S	+	2	0	CLN8	1715833	1.000000	0.71417	0.840000	0.33206	0.040000	0.13550	7.129000	0.77225	2.400000	0.81607	0.650000	0.86243	TCC		0.463	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		13	59	13	59	---	---	---	---	G	1728426	C	G	1728426	3	3	305	1	0	0	0	0	1	0	0	0	3546	855	30	4	560	4	CLN8	8	1728426	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		1728426	144635596	6	11164										
CSMD1	64478	broad.mit.edu	37	chr8	2886875	2886875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ctctcatctcctatgttccaCgtcccattggcctggcaccg	7	17	2	0			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:2886875C>T	ENST00000520002.1	-	52	8379	c.7824G>A	c.(7822-7824)acG>acA	p.T2608T	CSMD1_ENST00000400186.3_Silent_p.T2608T|CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000602557.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000602723.1_Silent_p.T2608T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2608	Sushi 16. {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)		CTATGTTCCACGTCCCATTGG	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7822-7824)acG>acA		CUB and Sushi multiple domains 1							94	94	94					8																	2886875		2020	4186	6206	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2886875C>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.7824G>A	8.37:g.2886875C>T			Somatic				CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000520002.1_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000400186.3_Silent_p.T2608T	p.T2608T			WXS	Illumina GAIIx	Phase_I	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)	52	8379	-		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)	2608			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7824G>A		.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127819	0.06753	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.88	-7.64	0.01286	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41106	-0.9527	4	.	.	.	.	3.9963	0.09559	0.0832:0.1086:0.3355:0.4728	.	.	.	.	M	2025	.	.	V	-	1	0	CSMD1	2874282	0.971000	0.33674	0.490000	0.27465	0.266000	0.26442	-0.076000	0.11412	-1.686000	0.01439	0.591000	0.81541	GTG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	36	10	36	---	---	---	---	T	2886875	C	T	2886875	2	4	305	1	0	0	0	0	0	0	0	1	3944	523	19	2		2	CSMD1	8	2886875	Silent	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08	1158449	2886875	143477147	7	11165										
CDCA2	157313	broad.mit.edu	37	chr8	25340925	25340925	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ttctgtttaggaacactgtaAcaacctctatgatgatgatg	8	7	2	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:25340925A>T	ENST00000330560.3	+	9	1520	c.1043A>T	c.(1042-1044)aAc>aTc	p.N348I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	348					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)		GAACACTGTAACAACCTCTAT	0.323																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1042-1044)aAc>aTc		cell division cycle associated 2							85	81	82					8																	25340925		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340925A>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.1043A>T	8.37:g.25340925A>T	ENSP00000328228:p.Asn348Ile		Somatic				CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I|CDCA2_ENST00000521098.2_3'UTR	p.N348I	NM_152562.2	NP_689775.2	WXS	Illumina GAIIx	Phase_I	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)	9	1520	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	348					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1043A>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622728	0.14193	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.31247	1.5;1.5	5.19	1.56	0.23342	.	0.886730	0.09925	N	0.737890	T	0.20740	0.0499	L	0.36672	1.1	0.09310	N	1	B;P;P	0.43094	0.399;0.799;0.799	B;B;B	0.38020	0.101;0.263;0.263	T	0.16808	-1.0390	10	0.62326	D	0.03	-2.3379	3.9039	0.09174	0.6277:0.1848:0.1875:0.0	.	348;333;348	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	348;333	ENSP00000328228:N348I;ENSP00000370040:N333I	ENSP00000328228:N348I	N	+	2	0	CDCA2	25396842	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	0.079000	0.14782	0.473000	0.27368	0.528000	0.53228	AAC		0.323	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		31	60	31	60	---	---	---	---	T	25340925	A	T	25340925	3	4	305	1	0	0	0	0	1	0	0	0	3086	43	2	5	1073	5	CDCA2	8	25340925	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	22454050	25340925	121023097	8	11166										
NBN	4683	broad.mit.edu	37	chr8	90965618	90965618	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ctctggttttgtgtccttgaAtaactgttccaatacttcat	6	9	2	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:90965618A>G	ENST00000265433.3	-	11	1853	c.1699T>C	c.(1699-1701)Ttc>Ctc	p.F567L	NBN_ENST00000409330.1_Missense_Mutation_p.F485L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	567					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)			GTGTCCTTGAATAACTGTTCC	0.348								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.(1699-1701)Ttc>Ctc	Homologous recombination	nibrin							315	307	310					8																	90965618		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.chr8:90965618A>G	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.1699T>C	8.37:g.90965618A>G	ENSP00000265433:p.Phe567Leu		Somatic				NBN_ENST00000409330.1_Missense_Mutation_p.F485L	p.F567L	NM_002485.4	NP_002476.2	WXS	Illumina GAIIx	Phase_I	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1853	-			567					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1699T>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	0.813	-0.751371	0.03041	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58797	2.04;0.31	5.29	-6.98	0.01611	.	1.040220	0.07535	N	0.912972	T	0.27169	0.0666	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.12156	0.006;0.007	T	0.45131	-0.9282	10	0.02654	T	1	0.47	10.4341	0.44424	0.2293:0.0:0.6382:0.1325	.	567;567	A6H8Y5;O60934	.;NBN_HUMAN	L	567;485	ENSP00000265433:F567L;ENSP00000386924:F485L	ENSP00000265433:F567L	F	-	1	0	NBN	91034794	0.007000	0.16637	0.012000	0.15200	0.623000	0.37688	-0.352000	0.07701	-0.891000	0.03940	-1.017000	0.02453	TTC		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		17	133	17	133	---	---	---	---	G	90965618	A	G	90965618	3	3	305	1	0	0	0	0	1	0	0	0	10191	101	4	2	589	2	NBN	8	90965618	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	65624693	90965618	55398404	9	11167										
CTNNAL1	8727	broad.mit.edu	37	chr9	111714527	111714527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	gaataggccatactggacatGttccgtccatattgaacaat	8	9	0	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr9:111714527G>C	ENST00000325551.4	-	14	1883	c.1797C>G	c.(1795-1797)aaC>aaG	p.N599K	CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.N599K|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	599					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)		TACTGGACATGTTCCGTCCAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1795-1797)aaC>aaG		catenin (cadherin-associated protein), alpha-like 1							145	132	136					9																	111714527		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111714527G>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.1797C>G	9.37:g.111714527G>C	ENSP00000320434:p.Asn599Lys		Somatic				CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.N599K	p.N599K			WXS	Illumina GAIIx	Phase_I	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	14	1876	-			599					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1797C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596708	0.66332	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.35048	1.33;1.33;1.33	4.79	2.92	0.33932	.	0.128388	0.64402	D	0.000001	T	0.41743	0.1172	M	0.68593	2.085	0.21020	N	0.9998	B;P;B;P;B	0.45283	0.425;0.557;0.425;0.855;0.425	B;B;B;P;B	0.50314	0.136;0.167;0.136;0.637;0.136	T	0.18398	-1.0338	10	0.33141	T	0.24	-10.1722	6.627	0.22835	0.3072:0.0:0.6928:0.0	.	599;515;599;599;599	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	K	599;599;515	ENSP00000363723:N599K;ENSP00000320434:N599K;ENSP00000323351:N515K	ENSP00000320434:N599K	N	-	3	2	CTNNAL1	110754348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.136000	0.58004	0.532000	0.28657	-0.253000	0.11424	AAC		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		24	53	24	53	---	---	---	---	C	111714527	G	C	111714527	3	2	305	1	0	0	0	0	1	0	0	0	4015	1368	48	4	431	4	CTNNAL1	9	111714527	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		111714527	29498904	10	11168										
TPP1	6881	broad.mit.edu	37	chr11	6636110	6636111	+	5'Flank	INS	-	-	C													0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	acttacatcaaagagtcctgINSccccatgctgctggtagagc							TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr11:6636110_6636111insC	ENST00000299424.4	-	0	0				TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000533371.1_Frame_Shift_Ins_p.A270fs|TPP1_ENST00000534644.1_5'Flank	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|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)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGAGTCCTGCCCCATGCTGC	0.54																																						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						c.(808-810)gcafs		tripeptidyl peptidase I																																				SO:0001631	upstream_gene_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.chr11:6636110_6636111insC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636114_6636114dupC	Exception_encountered		Somatic				TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs	p.A270fs			WXS	Illumina GAIIx	Phase_I	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	11	1606_1607	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	513					O00703|Q13175|Q6FH13	Frame_Shift_Ins	INS	ENST00000299424.4	37	c.808_809insG	CCDS7769.1																																																																																				0.54	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		120	314	120	314	---	---	---	---	C	6636111	-	C	6636110	6	5	305	0	1	1	1	0	0	0	0	0	16408	1319	46	0		0	TPP1	11	6636110	5'Flank	INS	-	TCGA-Y6-A8TL-01A-21D-A377-08		6636110	128370406	11	11169										
KRT6C	286887	broad.mit.edu	37	chr12	52865005	52865005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ctcagcgatgatgctgtccaGgtccaggttgcggttgttgt	14	9	1	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:52865005G>T	ENST00000252250.6	-	5	1035	c.988C>A	c.(988-990)Ctg>Atg	p.L330M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	330	Linker 12.|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)		ATGCTGTCCAGGTCCAGGTTG	0.562																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(988-990)Ctg>Atg		keratin 6C							174	161	166					12																	52865005		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865005G>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.988C>A	12.37:g.52865005G>T	ENSP00000252250:p.Leu330Met		Somatic					p.L330M	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1035	-			330			Linker 12.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.988C>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973408	0.53614	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.94828	-3.53	3.46	3.46	0.39613	Filament (1);	0.000000	0.45606	D	0.000345	D	0.95037	0.8393	L	0.55017	1.72	0.31676	N	0.643692	D	0.60575	0.988	D	0.67382	0.951	D	0.92618	0.6105	10	0.21014	T	0.42	.	11.6655	0.51370	0.0:0.0:0.8222:0.1778	.	330	P48668	K2C6C_HUMAN	M	330;315	ENSP00000252250:L330M	ENSP00000252250:L330M	L	-	1	2	KRT6C	51151272	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.958000	0.40402	1.929000	0.55896	0.442000	0.29010	CTG		0.562	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		4	159	4	159	---	---	---	---	T	52865005	G	T	52865005	3	4	305	1	0	0	0	0	1	0	0	0	8482	991	35	1	726	1	KRT6C	12	52865005	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		52865005	80986890	12	11170										
POC1B	282809	broad.mit.edu	37	chr12	89885713	89885713	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	atgaaattttttgcacttacTtggcacagcgtacccagtgt	8	9	0	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:89885713T>G	ENST00000313546.3	-	4	580	c.452A>C	c.(451-453)aAa>aCa	p.K151T	POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000549504.1_Splice_Site_p.K21T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000393179.4_Splice_Site_p.K21T|POC1B_ENST00000378528.2_Splice_Site_p.K21T	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	151					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						TTGCACTTACTTGGCACAGCG	0.403																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(61-63)aAa>aCa		POC1 centriolar protein B							97	95	96					12																	89885713		2203	4300	6503	SO:0001630	splice_region_variant	282809							g.chr12:89885713T>G	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.452+1A>C	12.37:g.89885713T>G			Somatic				POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000313546.3_Splice_Site_p.K151T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000549504.1_Splice_Site_p.K21T	p.K21T			WXS	Illumina GAIIx	Phase_I					2	675	-								G3V1X0	Splice_Site	SNP	ENST00000313546.3	37	c.62A>C	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924148	0.52653	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909;ENST00000549504	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.66	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042981	0.85682	D	0.000000	T	0.54532	0.1864	N	0.13327	0.33	0.52099	D	0.999945	D	0.76494	0.999	D	0.68943	0.961	T	0.52102	-0.8620	9	.	.	.	.	8.5628	0.33520	0.0:0.1498:0.0:0.8502	.	151	Q8TC44	POC1B_HUMAN	T	21;151;21;109;21;21	ENSP00000376877:K21T;ENSP00000323302:K151T;ENSP00000367789:K21T;ENSP00000447916:K109T;ENSP00000440301:K21T	.	K	-	2	0	POC1B	88409844	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	0.870000	0.28010	0.986000	0.38683	-0.456000	0.05471	AAA;AAA;AAA;AAA;AAA;AAG		0.403	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	Missense_Mutation	19	100	19	100	---	---	---	---	G	89885713	T	G	89885713	5	3	305	1	0	0	0	0	0	0	1	0	12176	1623	56	5	1020	5	POC1B	12	89885713	Splice_Site	SNP	T	TCGA-Y6-A8TL-01A-21D-A377-08	37020708	89885713	43966182	13	11171										
COQ5	84274	broad.mit.edu	37	chr12	120966916	120966916	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	acccacggccgcaatagctcCatagagcacagctcccgggg	11	16	0	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:120966916C>T	ENST00000288532.6	-	1	69	c.29G>A	c.(28-30)tGg>tAg	p.W10*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	10					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			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)					GCAATAGCTCCATAGAGCACA	0.662																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(28-30)tGg>tAg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							19	22	21					12																	120966916		2202	4300	6502	SO:0001587	stop_gained	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966916C>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.29G>A	12.37:g.120966916C>T	ENSP00000288532:p.Trp10*		Somatic				COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	p.W10*	NM_032314.3	NP_115690.3	WXS	Illumina GAIIx	Phase_I	Q5HYK3	COQ5_HUMAN			1	69	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		10					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Nonsense_Mutation	SNP	ENST00000288532.6	37	c.29G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477673	0.84640	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	.	.	.	5.66	5.66	0.87406	.	0.540114	0.22228	N	0.062851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000288532:W10X	W	-	2	0	COQ5	119451299	0.068000	0.21057	0.070000	0.20053	0.017000	0.09413	1.844000	0.39269	2.690000	0.91761	0.655000	0.94253	TGG		0.662	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		5	22	5	22	---	---	---	---	T	120966916	C	T	120966916	4	4	305	1	0	0	0	0	0	1	0	0	3748	595	21	2	982	2	COQ5	12	120966916	Nonsense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08	31081203	120966916	12884979	14	11172										
ALG5	29880	broad.mit.edu	37	chr13	37567800	37567800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	cacttcataagtgaacgcagGatctcgtttctgcaagaaac	8	10	3	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr13:37567800G>A	ENST00000239891.3	-	4	361	c.295C>T	c.(295-297)Cct>Tct	p.P99S	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000443765.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	99					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGAACGCAGGATCTCGTTTC	0.313																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(295-297)Cct>Tct		ALG5, dolichyl-phosphate beta-glucosyltransferase							110	105	107					13																	37567800		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37567800G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.295C>T	13.37:g.37567800G>A	ENSP00000239891:p.Pro99Ser		Somatic				ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron	p.P99S	NM_013338.4	NP_037470.1	WXS	Illumina GAIIx	Phase_I	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	4	361	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	99					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.295C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911415	0.33721	.	.	ENSG00000120697	ENST00000239891;ENST00000413537	T;T	0.61510	0.1;0.1	5.66	4.81	0.61882	Glycosyl transferase, family 2 (1);	0.148484	0.64402	D	0.000007	T	0.41858	0.1177	L	0.31420	0.93	0.58432	D	0.999998	B	0.12013	0.005	B	0.14023	0.01	T	0.33033	-0.9884	10	0.02654	T	1	-18.9438	14.7018	0.69162	0.0712:0.0:0.9288:0.0	.	99	Q9Y673	ALG5_HUMAN	S	99	ENSP00000239891:P99S;ENSP00000389647:P99S	ENSP00000239891:P99S	P	-	1	0	ALG5	36465800	1.000000	0.71417	0.911000	0.35937	0.747000	0.42532	3.154000	0.50693	1.365000	0.46057	0.563000	0.77884	CCT		0.313	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		7	117	7	117	---	---	---	---	A	37567800	G	A	37567800	3	1	305	1	0	0	0	0	1	0	0	0	521	1174	41	2	707	2	ALG5	13	37567800	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		37567800	77602078	15	11173										
TOX4	9878	broad.mit.edu	37	chr14	21955847	21955847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	ggctcctgagtgggggcttgAccatggtaaggggcaagaca	17	8	0	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr14:21955847A>G	ENST00000405508.1	+	4	589	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	105						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)		TGGGGGCTTGACCATGGTAAG	0.547																																						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.(313-315)Acc>Gcc		TOX high mobility group box family member 4							44	46	45					14																	21955847		2203	4299	6502	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955847A>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.313A>G	14.37:g.21955847A>G	ENSP00000385102:p.Thr105Ala		Somatic				TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A	p.T105A			WXS	Illumina GAIIx	Phase_I	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	4	589	+	all_cancers(95;0.000465)		105					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.313A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	8.803	0.933473	0.18206	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709;ENST00000457430;ENST00000448790	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.3	2.67	0.31697	.	0.234408	0.42964	D	0.000630	T	0.11750	0.0286	N	0.01352	-0.895	0.22401	N	0.999135	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16897	-1.0387	10	0.16420	T	0.52	.	2.5588	0.04766	0.4846:0.0:0.3147:0.2007	.	82;105	B4DPY8;O94842	.;TOX4_HUMAN	A	134;105;105;82;82	ENSP00000402195:T134A;ENSP00000385102:T105A;ENSP00000262709:T105A;ENSP00000406196:T82A;ENSP00000393080:T82A	ENSP00000262709:T105A	T	+	1	0	TOX4	21025687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.561000	0.36342	0.960000	0.38005	0.459000	0.35465	ACC		0.547	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		21	56	21	56	---	---	---	---	G	21955847	A	G	21955847	3	3	305	1	0	0	0	0	1	0	0	0	16377	275	10	2	323	2	TOX4	14	21955847	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		21955847	85393693	16	11174										
CORO2B	10391	broad.mit.edu	37	chr15	69011503	69011503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tcagattcctaccaggaagaCatttacccaatgacaccagg	7	12	1	3			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr15:69011503C>G	ENST00000566799.1	+	10	1130	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	CORO2B_ENST00000543950.1_Missense_Mutation_p.D362E|CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	367					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACCAGGAAGACATTTACCCAA	0.572																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1084-1086)gaC>gaG		coronin, actin binding protein, 2B							109	105	106					15																	69011503		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011503C>G	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.1101C>G	15.37:g.69011503C>G	ENSP00000454783:p.Asp367Glu		Somatic				CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000566799.1_Missense_Mutation_p.D367E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E	p.D362E	NM_001190457.1	NP_001177386.1	WXS	Illumina GAIIx	Phase_I	Q9UQ03	COR2B_HUMAN			10	1440	+			367					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1086C>G	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475245	0.84640	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58358	0.34;0.34	5.46	4.54	0.55810	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	M	0.91510	3.215	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.82250	-0.0550	10	0.87932	D	0	-49.7897	13.0557	0.58980	0.0:0.9214:0.0:0.0786	.	367	Q9UQ03	COR2B_HUMAN	E	367;362;362	ENSP00000446250:D362E;ENSP00000443819:D362E	ENSP00000261861:D367E	D	+	3	2	CORO2B	66798557	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.304000	0.44892	0.313000	0.20887	GAC		0.572	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		8	90	8	90	---	---	---	---	G	69011503	C	G	69011503	3	3	305	1	0	0	0	0	1	0	0	0	3757	477	17	4	1139	4	CORO2B	15	69011503	Missense_Mutation	SNP	C	TCGA-Y6-A8TL-01A-21D-A377-08		69011503	33519889	17	11175										
CHD3	1107	broad.mit.edu	37	chr17	7804250	7804250	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	gaaccaggtgtcgctgcttaAtatcatgatggatcttaaga	10	7	2	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:7804250A>G	ENST00000330494.7	+	19	3209	c.3059A>G	c.(3058-3060)aAt>aGt	p.N1020S	CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S|CHD3_ENST00000380358.4_Missense_Mutation_p.N1079S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1020					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)				TCGCTGCTTAATATCATGATG	0.473																																						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.(3235-3237)aAt>aGt		chromodomain helicase DNA binding protein 3							121	110	113					17																	7804250		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.chr17:7804250A>G	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.3059A>G	17.37:g.7804250A>G	ENSP00000332628:p.Asn1020Ser		Somatic				CHD3_ENST00000330494.7_Missense_Mutation_p.N1020S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S	p.N1079S	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			19	3237	+		Prostate(122;0.202)	1020			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3236A>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902245	0.52227	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75589	-0.95;-0.95;-0.95	4.95	4.95	0.65309	SNF2-related (1);	0.000000	0.50627	D	0.000112	D	0.82953	0.5149	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.79108	0.98;0.989;0.992	D	0.84937	0.0863	10	0.87932	D	0	-30.6814	15.0655	0.71992	1.0:0.0:0.0:0.0	.	1020;1020;1079	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	S	1079;1020;1020	ENSP00000369716:N1079S;ENSP00000350907:N1020S;ENSP00000332628:N1020S	ENSP00000332628:N1020S	N	+	2	0	CHD3	7744975	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.087000	0.94110	2.215000	0.71742	0.459000	0.35465	AAT		0.473	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		41	79	41	79	---	---	---	---	G	7804250	A	G	7804250	3	3	305	1	0	0	0	0	1	0	0	0	3326	101	4	2	3414	2	CHD3	17	7804250	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08		7804250	73390960	18	11176										
MAP2K4	6416	broad.mit.edu	37	chr17	11958264	11958264	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	cctttcaaatctacagcaagGtttactctgaatcccaatcc	4	13	3	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:11958264G>C	ENST00000353533.5	+	2	237	c.174G>C	c.(172-174)agG>agC	p.R58S	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R69S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	58		Cleavage; by anthrax lethal factor.			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)		CTACAGCAAGGTTTACTCTGA	0.348			"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)|endometrium(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.(205-207)agG>agC		mitogen-activated protein kinase kinase 4							79	75	76					17																	11958264		2202	4298	6500	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.chr17:11958264G>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.174G>C	17.37:g.11958264G>C	ENSP00000262445:p.Arg58Ser		Somatic				MAP2K4_ENST00000353533.5_Missense_Mutation_p.R58S	p.R69S	NM_001281435.1	NP_001268364.1	WXS	Illumina GAIIx	Phase_I	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)	3	260	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	58					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.207G>C	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273903	0.40194	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72051	-0.55;-0.62	5.57	4.54	0.55810	.	0.043334	0.85682	D	0.000000	T	0.59582	0.2204	L	0.56769	1.78	0.49389	D	0.999786	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.52200	-0.8607	10	0.15499	T	0.54	.	5.5635	0.17157	0.1581:0.1746:0.6673:0.0	.	69;58	P45985-2;P45985	.;MP2K4_HUMAN	S	58;69;35	ENSP00000262445:R58S;ENSP00000410402:R69S	ENSP00000262445:R58S	R	+	3	2	MAP2K4	11898989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.938000	0.40203	2.785000	0.95823	0.655000	0.94253	AGG		0.348	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			5	51	5	51	---	---	---	---	C	11958264	G	C	11958264	3	2	305	1	0	0	0	0	1	0	0	0	9239	1252	44	4	180	4	MAP2K4	17	11958264	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	4154014	11958264	69236946	19	11177										
NCOR1	9611	broad.mit.edu	37	chr17	15964819	15964819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tgaagttagctgcagtaatgGtagtcttccctctggtcctt	10	9	2	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:15964819G>A	ENST00000268712.3	-	37	6034	c.5777C>T	c.(5776-5778)aCc>aTc	p.T1926I	NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1926	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)		TGCAGTAATGGTAGTCTTCCC	0.478																																						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.(5776-5778)aCc>aTc		nuclear receptor corepressor 1							300	278	285					17																	15964819		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.chr17:15964819G>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.5777C>T	17.37:g.15964819G>A	ENSP00000268712:p.Thr1926Ile		Somatic				NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I	p.T1926I	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	6034	-			1926			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5777C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686884	0.88639	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.53423	0.62;0.62	5.87	5.87	0.94306	.	0.043420	0.85682	D	0.000000	T	0.70928	0.3280	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.997;0.994;0.996;0.999	T	0.72487	-0.4278	10	0.87932	D	0	-10.1654	19.1914	0.93667	0.0:0.0:1.0:0.0	.	736;1830;1926;446	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	I	1926;1830;510	ENSP00000268712:T1926I;ENSP00000379198:T510I	ENSP00000268712:T1926I	T	-	2	0	NCOR1	15905544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.785000	0.95823	0.650000	0.86243	ACC		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	275	5	275	---	---	---	---	A	15964819	G	A	15964819	3	1	305	1	0	0	0	0	1	0	0	0	10235	1261	44	2	1585	2	NCOR1	17	15964819	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	4006555	15964819	65230391	20	11178										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	2	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	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_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	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)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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		45	98	45	98	---	---	---	---	C	47696432	A	C	47696432	3	2	305	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-Y6-A8TL-01A-21D-A377-08	31731613	47696432	33498778	21	11179										
MAN2B1	4125	broad.mit.edu	37	chr19	12760801	12760801	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	tccagcggtgtgtcaaaacgGctgatgacctccttccccca	9	15	1	2			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:12760801G>C	ENST00000456935.2	-	18	2233	c.2193C>G	c.(2191-2193)agC>agG	p.S731R	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	731					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						TGTCAAAACGGCTGATGACCT	0.592																																						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.(2191-2193)agC>agG		mannosidase, alpha, class 2B, member 1							218	195	203					19																	12760801		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760801G>C		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.2193C>G	19.37:g.12760801G>C	ENSP00000395473:p.Ser731Arg		Somatic				MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R	p.S731R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	WXS	Illumina GAIIx	Phase_I	O00754	MA2B1_HUMAN			18	2233	-			731					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2193C>G	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885366	0.51908	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78816	-1.21;-1.21	5.13	-4.26	0.03755	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.56097	D	0.000034	D	0.86201	0.5876	M	0.87682	2.9	0.36238	D	0.853109	D;D	0.89917	1.0;1.0	D;D	0.73708	0.978;0.981	D	0.87677	0.2545	10	0.87932	D	0	-30.1702	13.2578	0.60089	0.3401:0.0:0.6599:0.0	.	730;731	G5E928;O00754	.;MA2B1_HUMAN	R	731;670;730	ENSP00000395473:S731R;ENSP00000221363:S730R	ENSP00000221363:S730R	S	-	3	2	MAN2B1	12621801	0.716000	0.27956	0.976000	0.42696	0.492000	0.33523	-0.138000	0.10374	-0.627000	0.05589	0.555000	0.69702	AGC		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			6	183	6	183	---	---	---	---	C	12760801	G	C	12760801	3	2	305	1	0	0	0	0	1	0	0	0	9216	1194	42	4	870	4	MAN2B1	19	12760801	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08		12760801	46368182	22	11180										
ZNF507	22847	broad.mit.edu	37	chr19	32844700	32844700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.621933621933622	0	1.14021164021164	1	1	0	gtatccacaatgggccatcaGtgcaagtgcagatttgcagc	11	10	1	1			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:32844700G>A	ENST00000311921.4	+	2	1156	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M|ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	322					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGGGCCATCAGTGCAAGTGCA	0.498																																						ENST00000311921.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(964-966)Gtg>Atg		zinc finger protein 507							189	175	180					19																	32844700		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844700G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.964G>A	19.37:g.32844700G>A	ENSP00000312277:p.Val322Met		Somatic				ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M|ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M	p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	WXS	Illumina GAIIx	Phase_I	Q8TCN5	ZN507_HUMAN			2	1156	+	Esophageal squamous(110;0.162)							A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.964G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	9.615	1.132246	0.21041	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07216	3.53;3.53;3.21	5.91	5.91	0.95273	.	0.307839	0.34133	N	0.004225	T	0.12860	0.0312	L	0.57536	1.79	0.26307	N	0.977884	P;P	0.42203	0.468;0.773	B;B	0.40444	0.115;0.329	T	0.09122	-1.0689	10	0.54805	T	0.06	.	15.6025	0.76636	0.0:0.2403:0.7597:0.0	.	322;322	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	M	322	ENSP00000348162:V322M;ENSP00000312277:V322M;ENSP00000441549:V322M	ENSP00000312277:V322M	V	+	1	0	ZNF507	37536540	0.878000	0.30173	0.221000	0.23827	0.822000	0.46500	1.525000	0.35953	2.791000	0.96007	0.655000	0.94253	GTG		0.498	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		36	189	36	189	---	---	---	---	A	32844700	G	A	32844700	3	1	305	1	0	0	0	0	1	0	0	0	17950	1029	36	2	966	2	ZNF507	19	32844700	Missense_Mutation	SNP	G	TCGA-Y6-A8TL-01A-21D-A377-08	20083899	32844700	26284283	23	11181										
SPEN	23013	broad.mit.edu	37	chr1	16260826	16260826	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	aacgtcctgaaagggcctgtGaatgttcttacggggccagt	13	9	1	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:16260826G>A	ENST00000375759.3	+	11	8295	c.8091G>A	c.(8089-8091)gtG>gtA	p.V2697V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2697	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)			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)		AAGGGCCTGTGAATGTTCTTA	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.(8089-8091)gtG>gtA		spen family transcriptional repressor							82	83	83					1																	16260826		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.chr1:16260826G>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.8091G>A	1.37:g.16260826G>A			Somatic					p.V2697V	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	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	8295	+		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)	2697			RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.8091G>A	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		11	79	11	79	---	---	---	---	A	16260826	G	A	16260826	2	1	306	1	0	0	0	0	0	0	0	1	15037	1277	45	2		2	SPEN	1	16260826	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		16260826	232989795	1	11182										
ILDR2	387597	broad.mit.edu	37	chr1	166904684	166904684	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	cggagacagagggagggtacCcggcctttgctgctttccct	14	12	0	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr1:166904684C>G	ENST00000271417.3	-	6	789	c.734G>C	c.(733-735)gGg>gCg	p.G245A	ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	245					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						GGGAGGGTACCCGGCCTTTGC	0.582																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(733-735)gGg>gCg		immunoglobulin-like domain containing receptor 2							49	48	48					1																	166904684		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166904684C>G	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.734G>C	1.37:g.166904684C>G	ENSP00000271417:p.Gly245Ala		Somatic				ILDR2_ENST00000469934.2_Missense_Mutation_p.G245A|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G226A|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron	p.G245A	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			6	789	-			245						Missense_Mutation	SNP	ENST00000271417.3	37	c.734G>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825473	0.90955	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.60299	0.23;0.31;0.2	5.63	5.63	0.86233	.	0.052562	0.85682	D	0.000000	T	0.72961	0.3526	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74771	-0.3552	10	0.72032	D	0.01	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	245	Q71H61	ILDR2_HUMAN	A	245;245;226	ENSP00000271417:G245A;ENSP00000437008:G245A;ENSP00000436882:G226A	ENSP00000271417:G245A	G	-	2	0	ILDR2	165171308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.277000	0.72608	2.662000	0.90505	0.556000	0.70494	GGG		0.582	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		10	25	10	25	---	---	---	---	G	166904684	C	G	166904684	3	3	306	1	0	0	0	0	1	0	0	0	7710	623	22	4	1205	4	ILDR2	1	166904684	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	150643858	166904684	82345937	2	11183										
LTBP1	4052	broad.mit.edu	37	chr2	33487888	33487888	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	atctgcatccacagtttccaGgtagcctgtgttgatctgtg	10	10	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:33487888G>T	ENST00000404816.2	+	14	2871	c.2518G>T	c.(2518-2520)Gta>Tta	p.V840L	LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L|LTBP1_ENST00000354476.3_Missense_Mutation_p.G840C|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	840					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.G840S(1)		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)				ACAGTTTCCAGGTAGCCTGTG	0.403																																						ENST00000354476.3																			1	Substitution - Missense(1)	p.G840S(1)	lung(1)	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.(2518-2520)Ggt>Tgt		latent transforming growth factor beta binding protein 1							70	69	70					2																	33487888		2203	4300	6503	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.chr2:33487888G>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.2518+1G>T	2.37:g.33487888G>T			Somatic				LTBP1_ENST00000404816.2_Splice_Site_p.V840L|LTBP1_ENST00000390003.4_Missense_Mutation_p.G514C|LTBP1_ENST00000407925.1_Splice_Site_p.V514L|LTBP1_ENST00000404525.1_Splice_Site_p.V461L|LTBP1_ENST00000402934.1_Splice_Site_p.V461L|LTBP1_ENST00000418533.2_Splice_Site_p.V514L	p.G840C	NM_206943.2	NP_996826.2	WXS	Illumina GAIIx	Phase_I	Q14766	LTBP1_HUMAN			14	2541	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	839					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2518G>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.226691|3.226691	0.58668|0.58668	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000354476;ENST00000390003;ENST00000468091|ENST00000404816;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	T;T;T|T;T;T;T;T;T	0.80566|0.80566	-1.39;-1.35;0.29|-1.39;-1.27;-1.3;-1.28;-1.28;1.74	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|T	0.76630|0.76630	0.4014|0.4014	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D|B;B;B;B	0.89917|0.29988	1.0;1.0|0.05;0.264;0.004;0.024	D;D|B;B;B;B	0.97110|0.31869	1.0;1.0|0.043;0.137;0.005;0.058	T|T	0.72593|0.72593	-0.4246|-0.4246	9|9	0.59425|0.22706	D|T	0.04|0.39	.|.	17.7368|17.7368	0.88396|0.88396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	514;840|840;514;461;514	Q14766-5;Q14766-4|Q14766;E7EV71;Q14766-3;Q14766-2	.;.|LTBP1_HUMAN;.;.;.	C|L	840;514;157|840;514;461;461;514;168	ENSP00000346467:G840C;ENSP00000374653:G514C;ENSP00000417591:G157C|ENSP00000386043:V840L;ENSP00000393057:V514L;ENSP00000384373:V461L;ENSP00000385359:V461L;ENSP00000384091:V514L;ENSP00000415412:V168L	ENSP00000346467:G840C|ENSP00000384373:V461L	G|V	+|+	1|1	0|0	LTBP1|LTBP1	33341392|33341392	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.757000|7.757000	0.85209|0.85209	2.425000|2.425000	0.82216|0.82216	0.561000|0.561000	0.74099|0.74099	GGT|GTA		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Missense_Mutation	10	18	10	18	---	---	---	---	T	33487888	G	T	33487888	5	4	306	1	0	0	0	0	0	0	1	0	9073	1014	35	1	2627	1	LTBP1	2	33487888	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		33487888	209711485	3	11184										
CKAP2L	150468	broad.mit.edu	37	chr2	113514462	113514462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	atattattcataaagtctatAcatttaccatttccttgatc	2	8	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:113514462A>G	ENST00000302450.6	-	4	564	c.486T>C	c.(484-486)tgT>tgC	p.C162C	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	162						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TAAAGTCTATACATTTACCAT	0.343																																						ENST00000302450.6																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(484-486)tgT>tgC		cytoskeleton associated protein 2-like							72	76	74					2																	113514462		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113514462A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.486T>C	2.37:g.113514462A>G			Somatic				CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	p.C162C	NM_152515.3	NP_689728.3	WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	564	-			162					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.486T>C	CCDS2100.1																																																																																				0.343	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		14	35	14	35	---	---	---	---	G	113514462	A	G	113514462	2	3	306	1	0	0	0	0	0	0	0	1	3443	389	14	2		2	CKAP2L	2	113514462	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	80026574	113514462	129684911	4	11185										
OR6B2	389090	broad.mit.edu	37	chr2	240969799	240969799	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	agccctggggccgtggggagGcccaccaggatgaaggtgct	18	11	0	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr2:240969799G>A	ENST00000402971.2	-	1	107	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	16						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(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCGTGGGGAGGCCCACCAGGA	0.567																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(46-48)ggC>ggT		olfactory receptor, family 6, subfamily B, member 2							41	45	44					2																	240969799		2040	4196	6236	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969799G>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.48C>T	2.37:g.240969799G>A			Somatic					p.G16G	NM_001005853.1	NP_001005853.1	WXS	Illumina GAIIx	Phase_I	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	107	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	16					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.48C>T	CCDS46559.1																																																																																				0.567	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		11	31	11	31	---	---	---	---	A	240969799	G	A	240969799	2	1	306	1	0	0	0	0	0	0	0	1	11188	1190	42	2		2	OR6B2	2	240969799	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	127455337	240969799	2229574	5	11186										
PLD1	5337	broad.mit.edu	37	chr3	171362776	171362776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tccttcgaaccctggcagaaGtggtatcacgacatataccc	8	13	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr3:171362776G>T	ENST00000351298.4	-	22	2593	c.2467C>A	c.(2467-2469)Ctt>Att	p.L823I	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.L785I|PLD1_ENST00000340989.4_Missense_Mutation_p.L823I	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	823	Catalytic.				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)	CCTGGCAGAAGTGGTATCACG	0.423																																					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.(2353-2355)Ctt>Att		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						122	120	121					3																	171362776		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.chr3:171362776G>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.2467C>A	3.37:g.171362776G>T	ENSP00000342793:p.Leu823Ile		Somatic				PLD1_ENST00000340989.4_Missense_Mutation_p.L823I|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.L823I	p.L785I	NM_001130081.2	NP_001123553.1	WXS	Illumina GAIIx	Phase_I	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		21	2423	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		823			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2353C>A	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.065201|3.065201	0.55432|0.55432	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000446289|ENST00000356327;ENST00000351298;ENST00000340989	.|T;T;T	.|0.27890	.|1.64;1.64;1.64	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54743|0.54743	0.1877|0.1877	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.56521	.|0.941;0.613;0.976	.|P;P;D	.|0.65233	.|0.773;0.75;0.933	T|T	0.59064|0.59064	-0.7524|-0.7524	5|10	.|0.52906	.|T	.|0.07	-16.3211|-16.3211	9.9442|9.9442	0.41598|0.41598	0.1564:0.0:0.8436:0.0|0.1564:0.0:0.8436:0.0	.|.	.|823;808;823	.|Q13393-4;Q59EA4;Q13393	.|.;.;PLD1_HUMAN	Q|I	85|785;823;823	.|ENSP00000348681:L785I;ENSP00000342793:L823I;ENSP00000340326:L823I	.|ENSP00000340326:L823I	H|L	-|-	3|1	2|0	PLD1|PLD1	172845470|172845470	1.000000|1.000000	0.71417|0.71417	0.165000|0.165000	0.22776|0.22776	0.226000|0.226000	0.24999|0.24999	6.289000|6.289000	0.72696|0.72696	1.436000|1.436000	0.47453|0.47453	0.655000|0.655000	0.94253|0.94253	CAC|CTT		0.423	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		5	139	5	139	---	---	---	---	T	171362776	G	T	171362776	3	4	306	1	0	0	0	0	1	0	0	0	12045	1029	36	3	781	3	PLD1	3	171362776	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		171362776	26659654	6	11187										
PRSS12	8492	broad.mit.edu	37	chr4	119204214	119204214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ctcaaactcctctggtaccaGagtatgataatctccaaccc	5	14	3	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:119204214G>C	ENST00000296498.3	-	12	2374	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	698	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						TCTGGTACCAGAGTATGATAA	0.453																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2092-2094)Ctg>Gtg		protease, serine, 12 (neurotrypsin, motopsin)							147	155	152					4																	119204214		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119204214G>C	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.2092C>G	4.37:g.119204214G>C	ENSP00000296498:p.Leu698Val		Somatic				PRSS12_ENST00000510903.1_5'UTR	p.L698V	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			12	2374	-			698			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2092C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088527	0.36855	.	.	ENSG00000164099	ENST00000296498	D	0.89123	-2.47	5.88	1.22	0.21188	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.074425	0.56097	D	0.000039	D	0.86012	0.5831	N	0.16098	0.37	0.38818	D	0.955568	D	0.76494	0.999	D	0.72075	0.976	T	0.82880	-0.0238	10	0.49607	T	0.09	.	6.5315	0.22330	0.3732:0.1156:0.5111:0.0	.	698	P56730	NETR_HUMAN	V	698	ENSP00000296498:L698V	ENSP00000296498:L698V	L	-	1	2	PRSS12	119423662	0.305000	0.24481	0.985000	0.45067	0.532000	0.34746	0.672000	0.25187	0.108000	0.17862	0.591000	0.81541	CTG		0.453	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			14	167	14	167	---	---	---	---	C	119204214	G	C	119204214	3	2	306	1	0	0	0	0	1	0	0	0	12615	933	33	4	543	4	PRSS12	4	119204214	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		119204214	71950062	7	11188										
DCHS2	54798	broad.mit.edu	37	chr4	155219050	155219050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ctttatacaggtggtggctgAaggaaatctttacatcttct	9	7	3	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr4:155219050A>G	ENST00000357232.4	-	18	5050	c.5051T>C	c.(5050-5052)tTc>tCc	p.F1684S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1684	Cadherin 14. {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)		GTGGTGGCTGAAGGAAATCTT	0.443																																						ENST00000357232.4																			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.(5050-5052)tTc>tCc		dachsous cadherin-related 2							80	79	79					4																	155219050		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219050A>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.5051T>C	4.37:g.155219050A>G	ENSP00000349768:p.Phe1684Ser		Somatic					p.F1684S	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	5050	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5051T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653957	0.88056	.	.	ENSG00000197410	ENST00000357232	T	0.53857	0.6	5.82	5.82	0.92795	Cadherin (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.76083	0.3938	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80417	-0.1391	10	0.87932	D	0	.	16.1966	0.82029	1.0:0.0:0.0:0.0	.	1684	Q6V1P9	PCD23_HUMAN	S	1684	ENSP00000349768:F1684S	ENSP00000349768:F1684S	F	-	2	0	DCHS2	155438500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.171000	0.71926	2.232000	0.73038	0.528000	0.53228	TTC		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		14	27	14	27	---	---	---	---	G	155219050	A	G	155219050	3	3	306	1	0	0	0	0	1	0	0	0	4288	246	9	2	3731	2	DCHS2	4	155219050	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	36014836	155219050	35935226	8	11189										
ADAMTS6	11174	broad.mit.edu	37	chr5	64766898	64766898	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	atttttcacagtaaagctgaGaaatgctccattttgatcaa	6	7	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:64766898G>T	ENST00000536360.1	-	3	982	c.169C>A	c.(169-171)Ctc>Atc	p.L57I				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	57						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)		GTAAAGCTGAGAAATGCTCCA	0.378																																						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.(169-171)Ctc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 6							83	83	83					5																	64766898		2203	4299	6502	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64766898G>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.169C>A	5.37:g.64766898G>T	ENSP00000440995:p.Leu57Ile		Somatic					p.L57I			WXS	Illumina GAIIx	Phase_I	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	3	982	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	57					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.318913	0.60524	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.06933	3.24;3.24;3.24	5.53	5.53	0.82687	Peptidase M12B, propeptide (1);	0.119197	0.64402	D	0.000015	T	0.15305	0.0369	L	0.52266	1.64	0.45076	D	0.998092	B	0.20988	0.05	B	0.39617	0.305	T	0.05920	-1.0856	10	0.36615	T	0.2	.	15.3206	0.74117	0.0:0.1394:0.8606:0.0	.	57	Q9UKP5	ATS6_HUMAN	I	57	ENSP00000370443:L57I;ENSP00000423551:L57I;ENSP00000440995:L57I	ENSP00000261306:L57I	L	-	1	0	ADAMTS6	64802654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.631000	0.61304	2.769000	0.95229	0.478000	0.44815	CTC		0.378	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		9	50	9	50	---	---	---	---	T	64766898	G	T	64766898	3	4	306	1	0	0	0	0	1	0	0	0	270	942	33	3	3276	3	ADAMTS6	5	64766898	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		64766898	116148362	9	11190										
SRP19	6728	broad.mit.edu	37	chr5	112198210	112198210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tattgtctatggcaggtttaTttgtatctatcctgcttatt	7	6	2	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:112198210T>C	ENST00000505459.1	+	2	202	c.47T>C	c.(46-48)aTt>aCt	p.I16T	CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	16					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		GGCAGGTTTATTTGTATCTAT	0.458																																						ENST00000505459.1																			0				breast(1)|cervix(1)|large_intestine(1)	3						c.(46-48)aTt>aCt		signal recognition particle 19kDa							56	57	56					5																	112198210		2202	4300	6502	SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112198210T>C		CCDS4108.1, CCDS56375.1, CCDS56376.1, CCDS75286.1	5q21-q22	2008-07-18	2002-08-29		ENSG00000153037	ENSG00000153037			11300	protein-coding gene	gene with protein product		182175	"signal recognition particle 19kD"			2460823	Standard	NM_003135		Approved		uc011cvu.2	P09132	OTTHUMG00000128805	ENST00000505459.1:c.47T>C	5.37:g.112198210T>C	ENSP00000424870:p.Ile16Thr		Somatic				CTC-554D6.1_ENST00000520401.1_Silent_p.Y87Y|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.I16T|SRP19_ENST00000282999.3_Missense_Mutation_p.I16T|SRP19_ENST00000515463.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR	p.I16T	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	WXS	Illumina GAIIx	Phase_I	P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	2	202	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	16					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.47T>C	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595264	0.86953	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.45276	0.9;0.93	5.37	5.37	0.77165	.	0.281066	0.37483	N	0.002071	T	0.58991	0.2161	M	0.68593	2.085	0.80722	D	1	D;B	0.69078	0.997;0.421	D;B	0.67900	0.954;0.436	T	0.56601	-0.7952	10	0.30078	T	0.28	-6.6918	13.1931	0.59722	0.0:0.0:0.0:1.0	.	16;16	P09132;Q05D77	SRP19_HUMAN;.	T	16	ENSP00000424870:I16T;ENSP00000282999:I16T	ENSP00000282999:I16T	I	+	2	0	SRP19	112226109	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	6.340000	0.72973	2.164000	0.68074	0.533000	0.62120	ATT		0.458	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		5	19	5	19	---	---	---	---	C	112198210	T	C	112198210	3	2	306	1	0	0	0	0	1	0	0	0	15153	1493	52	2	53	2	SRP19	5	112198210	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	47431312	112198210	68717050	10	11191										
FAT2	2196	broad.mit.edu	37	chr5	150908872	150908872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tcacgtcactgagggaagagGagctcttccggctgcactca	12	12	4	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr5:150908872G>T	ENST00000261800.5	-	14	9905	c.9893C>A	c.(9892-9894)tCc>tAc	p.S3298Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3298	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Poly-Ser.				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)			GAGGGAAGAGGAGCTCTTCCG	0.512																																						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.(9892-9894)tCc>tAc		FAT atypical cadherin 2							152	140	144					5																	150908872		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.chr5:150908872G>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.9893C>A	5.37:g.150908872G>T	ENSP00000261800:p.Ser3298Tyr		Somatic					p.S3298Y	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	9905	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3298			Cadherin 29.|Poly-Ser.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9893C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171872	0.78452	.	.	ENSG00000086570	ENST00000261800	T	0.55413	0.52	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.188965	0.38164	N	0.001787	T	0.74199	0.3685	M	0.76838	2.35	0.39541	D	0.968821	D	0.69078	0.997	D	0.69824	0.966	T	0.74147	-0.3759	10	0.44086	T	0.13	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	3298	Q9NYQ8	FAT2_HUMAN	Y	3298	ENSP00000261800:S3298Y	ENSP00000261800:S3298Y	S	-	2	0	FAT2	150889065	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	5.374000	0.66167	2.732000	0.93576	0.637000	0.83480	TCC		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		39	68	39	68	---	---	---	---	T	150908872	G	T	150908872	3	4	306	1	0	0	0	0	1	0	0	0	5690	1174	41	3	3196	3	FAT2	5	150908872	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	38710662	150908872	30006388	11	11192										
PGBD1	84547	broad.mit.edu	37	chr6	28269439	28269439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ggatcctgatcttgggttagGtggaaatctagtgatgaact	13	5	2	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:28269439G>T	ENST00000405948.2	+	7	2228	c.1808G>T	c.(1807-1809)gGt>gTt	p.G603V	PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	603						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTGGGTTAGGTGGAAATCTA	0.403																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1807-1809)gGt>gTt		piggyBac transposable element derived 1							148	147	148					6																	28269439		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269439G>T	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.1808G>T	6.37:g.28269439G>T	ENSP00000385213:p.Gly603Val		Somatic				PGBD1_ENST00000259883.3_Missense_Mutation_p.G603V	p.G603V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina GAIIx	Phase_I	Q96JS3	PGBD1_HUMAN			7	2228	+			603					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1808G>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240000	0.58995	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	4.66	0.58398	.	0.102557	0.34386	N	0.004012	T	0.30293	0.0760	M	0.66939	2.045	0.53688	D	0.999971	D	0.76494	0.999	D	0.81914	0.995	T	0.01972	-1.1237	10	0.87932	D	0	-9.8625	13.256	0.60079	0.0:0.0:1.0:0.0	.	603	Q96JS3	PGBD1_HUMAN	V	603	ENSP00000385213:G603V;ENSP00000259883:G603V	ENSP00000259883:G603V	G	+	2	0	PGBD1	28377418	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.268000	0.65536	2.581000	0.87130	0.655000	0.94253	GGT		0.403	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			43	76	43	76	---	---	---	---	T	28269439	G	T	28269439	3	4	306	1	0	0	0	0	1	0	0	0	11780	1261	44	3	1830	3	PGBD1	6	28269439	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		28269439	142845628	12	11193										
GPR116	221395	broad.mit.edu	37	chr6	46826111	46826111	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	cacaatgatcagtgctgggaTggcgaaagccagcagggcct	14	10	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr6:46826111T>A	ENST00000283296.7	-	17	3817	c.3529A>T	c.(3529-3531)Atc>Ttc	p.I1177F	GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1177					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)			AGTGCTGGGATGGCGAAAGCC	0.547																																					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.(3529-3531)Atc>Ttc		G protein-coupled receptor 116							67	60	62					6																	46826111		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826111T>A	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.3529A>T	6.37:g.46826111T>A	ENSP00000283296:p.Ile1177Phe		Somatic				GPR116_ENST00000456426.2_Missense_Mutation_p.I1035F|GPR116_ENST00000362015.4_Missense_Mutation_p.I1177F|GPR116_ENST00000545669.1_Missense_Mutation_p.I606F|GPR116_ENST00000265417.7_Missense_Mutation_p.I1177F	p.I1177F	NM_001098518.1	NP_001091988.1	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3817	-			1177					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3529A>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619085	0.28801	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	2.99	0.34606	GPCR, family 2-like (1);	0.094859	0.45126	D	0.000390	T	0.49881	0.1583	M	0.78637	2.42	0.51767	D	0.999936	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.989;0.992;1.0;0.994;1.0	T	0.53143	-0.8480	10	0.59425	D	0.04	-22.5942	8.2989	0.32001	0.0:0.215:0.0:0.785	.	606;732;1177;1035;1177	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	F	1177;1177;1177;1035;548;1177;606	ENSP00000283296:I1177F;ENSP00000354563:I1177F;ENSP00000412866:I1035F;ENSP00000265417:I1177F;ENSP00000441581:I606F	ENSP00000265417:I1177F	I	-	1	0	GPR116	46934070	0.988000	0.35896	0.521000	0.27850	0.203000	0.24098	0.795000	0.26972	0.440000	0.26502	-0.911000	0.02809	ATC		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	80	5	80	---	---	---	---	A	46826111	T	A	46826111	3	1	306	1	0	0	0	0	1	0	0	0	6633	1464	51	5	531	5	GPR116	6	46826111	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	18556672	46826111	124288956	13	11194										
TRRAP	8295	broad.mit.edu	37	chr7	98522824	98522824	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gaagtgatcaaatgcttcctGgtggccatgatgagcctgga	13	8	1	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:98522824G>T	ENST00000359863.4	+	22	3122	c.2913G>T	c.(2911-2913)ctG>ctT	p.L971L	TRRAP_ENST00000446306.3_Silent_p.L970L|TRRAP_ENST00000355540.3_Silent_p.L971L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	971					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)			AATGCTTCCTGGTGGCCATGA	0.562																																						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.(2911-2913)ctG>ctT		transformation/transcription domain-associated protein							171	137	148					7																	98522824		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.chr7:98522824G>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.2913G>T	7.37:g.98522824G>T			Somatic				TRRAP_ENST00000355540.3_Silent_p.L971L|TRRAP_ENST00000446306.3_Silent_p.L970L	p.L971L	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3122	+	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)		971					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2913G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239646	0.22711	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.17	4.36	0.52297	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60500	-0.7251	4	.	.	.	.	12.2011	0.54326	0.0614:0.2256:0.713:0.0	.	.	.	.	L	686	.	.	W	+	2	0	TRRAP	98360760	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.878000	0.56130	0.925000	0.37094	-0.165000	0.13383	TGG		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		70	67	70	67	---	---	---	---	T	98522824	G	T	98522824	2	4	306	1	0	0	0	0	0	0	0	1	16598	1335	47	1		1	TRRAP	7	98522824	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		98522824	60615839	14	11195										
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621804	99621804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gtcaagttcatggacctgagAtgctcgcaagggggatggtg	16	7	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:99621804A>G	ENST00000324306.6	+	3	688	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	152					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)			TGGACCTGAGATGCTCGCAAG	0.488																																						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.(454-456)Atg>Gtg		zinc finger with KRAB and SCAN domains 1							93	83	86					7																	99621804		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621804A>G	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.454A>G	7.37:g.99621804A>G	ENSP00000323148:p.Met152Val		Somatic				ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.M116V|ZKSCAN1_ENST00000535170.1_Intron	p.M152V	NM_003439.1	NP_003430.1	WXS	Illumina GAIIx	Phase_I	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	688	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		152					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.454A>G	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	A	4.583	0.108398	0.08780	.	.	ENSG00000106261	ENST00000324306;ENST00000426572	T;T	0.04406	3.69;3.63	4.69	4.69	0.59074	Transcription regulator SCAN (1);	0.000000	0.64402	D	0.000009	T	0.02649	0.0080	N	0.08118	0	0.80722	D	1	B;P	0.34864	0.323;0.473	B;B	0.38194	0.267;0.174	T	0.43130	-0.9410	10	0.02654	T	1	.	10.4569	0.44557	1.0:0.0:0.0:0.0	.	152;116	P17029;E9PC66	ZKSC1_HUMAN;.	V	152;116	ENSP00000323148:M152V;ENSP00000409172:M116V	ENSP00000323148:M152V	M	+	1	0	ZKSCAN1	99459740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.821000	0.48065	1.971000	0.57363	0.402000	0.26972	ATG		0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	109	4	109	---	---	---	---	G	99621804	A	G	99621804	3	3	306	1	0	0	0	0	1	0	0	0	17683	333	12	2	460	2	ZKSCAN1	7	99621804	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	1098980	99621804	59516859	15	11196										
LAMB1	3912	broad.mit.edu	37	chr7	107642017	107642017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	cctcacctgcaagtggctgaCgatacagtagggttcgggct	13	11	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:107642017C>T	ENST00000222399.6	-	3	429	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000393561.1_Missense_Mutation_p.V91I|U3_ENST00000458938.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	67	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						AAGTGGCTGACGATACAGTAG	0.652																																						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.(271-273)Gtc>Atc		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23	24	23					7																	107642017		2202	4300	6502	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.chr7:107642017C>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.199G>A	7.37:g.107642017C>T	ENSP00000222399:p.Val67Ile		Somatic				LAMB1_ENST00000393560.1_Missense_Mutation_p.V67I|LAMB1_ENST00000222399.6_Missense_Mutation_p.V67I	p.V91I			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			1	455	-			67			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.271G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455260	0.96223	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560;ENST00000439976;ENST00000393559	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.19	5.19	0.71726	Laminin, N-terminal (3);	.	.	.	.	D	0.85843	0.5791	M	0.77616	2.38	0.80722	D	1	D;P;D;P	0.76494	0.999;0.688;0.969;0.794	D;B;P;B	0.64687	0.928;0.217;0.665;0.185	D	0.86836	0.2014	9	0.56958	D	0.05	.	18.6625	0.91475	0.0:1.0:0.0:0.0	.	153;67;67;91	C9J296;E7EPA6;P07942;G3XAI2	.;.;LAMB1_HUMAN;.	I	91;67;67;153;67	ENSP00000377191:V91I;ENSP00000222399:V67I;ENSP00000377190:V67I;ENSP00000412686:V153I;ENSP00000377189:V67I	ENSP00000222399:V67I	V	-	1	0	LAMB1	107429253	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.423000	0.80229	2.568000	0.86640	0.462000	0.41574	GTC		0.652	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		4	28	4	28	---	---	---	---	T	107642017	C	T	107642017	3	4	306	1	0	0	0	0	1	0	0	0	8610	536	19	2	5289	2	LAMB1	7	107642017	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	8020213	107642017	51496646	16	11197										
EXOC4	60412	broad.mit.edu	37	chr7	133160106	133160106	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tattaactgagtacttggatAtgaaaaatactcgtacggcc	8	7	0	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr7:133160106A>G	ENST00000253861.4	+	8	1236	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	403					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)				GTACTTGGATATGAAAAATAC	0.358																																						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.(1207-1209)Atg>Gtg		exocyst complex component 4							102	105	104					7																	133160106		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160106A>G	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.1207A>G	7.37:g.133160106A>G	ENSP00000253861:p.Met403Val		Somatic				EXOC4_ENST00000393161.2_Missense_Mutation_p.M403V|EXOC4_ENST00000539845.1_Missense_Mutation_p.M302V	p.M403V	NM_021807.3	NP_068579.3	WXS	Illumina GAIIx	Phase_I	Q96A65	EXOC4_HUMAN			8	1236	+		Esophageal squamous(399;0.129)	403					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1207A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256402	0.22965	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000546185;ENST00000539845	.	.	.	5.34	5.34	0.76211	.	0.051466	0.85682	D	0.000000	T	0.35828	0.0945	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16689	-1.0394	9	0.26408	T	0.33	.	14.9773	0.71283	1.0:0.0:0.0:0.0	.	403;403	Q96A65;Q8TAR2	EXOC4_HUMAN;.	V	403;403;22;302	.	ENSP00000253861:M403V	M	+	1	0	EXOC4	132810646	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.299000	0.72770	2.011000	0.59026	0.455000	0.32223	ATG		0.358	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		117	104	117	104	---	---	---	---	G	133160106	A	G	133160106	3	3	306	1	0	0	0	0	1	0	0	0	5306	449	16	2	1237	2	EXOC4	7	133160106	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	25518089	133160106	25978557	17	11198										
GTF2E2	2961	broad.mit.edu	37	chr8	30472224	30472224	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ggatgcgtatctcctcgctgAtgccgtgtctatcaagtgaa	11	10	3	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:30472224A>G	ENST00000355904.4	-	4	549	c.267T>C	c.(265-267)caT>caC	p.H89H	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	89					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)		CTCCTCGCTGATGCCGTGTCT	0.358																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(265-267)caT>caC		general transcription factor IIE, polypeptide 2, beta 34kDa							146	126	133					8																	30472224		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.chr8:30472224A>G	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.267T>C	8.37:g.30472224A>G			Somatic					p.H89H	NM_002095.4	NP_002086.1	WXS	Illumina GAIIx	Phase_I	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	4	549	-			89					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.267T>C	CCDS6078.1																																																																																				0.358	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		13	25	13	25	---	---	---	---	G	30472224	A	G	30472224	2	3	306	1	0	0	0	0	0	0	0	1	6857	330	12	2		2	GTF2E2	8	30472224	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		30472224	115891798	18	11199										
ZFHX4	79776	broad.mit.edu	37	chr8	77767002	77767002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	agaaccacgatcaccccggaAcagctggaaatactctatga	8	12	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr8:77767002A>G	ENST00000521891.2	+	10	8293	c.7845A>G	c.(7843-7845)gaA>gaG	p.E2615E	ZFHX4_ENST00000050961.6_Silent_p.E2570E|ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2570					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)			TCACCCCGGAACAGCTGGAAA	0.433										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.(7843-7845)gaA>gaG		zinc finger homeobox 4							43	42	42					8																	77767002		1871	4096	5967	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767002A>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.7845A>G	8.37:g.77767002A>G		HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000518282.1_Silent_p.E2589E|ZFHX4_ENST00000455469.2_Silent_p.E2570E|ZFHX4_ENST00000050961.6_Silent_p.E2570E	p.E2615E	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8293	+			2570					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7845A>G	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	34	12	34	---	---	---	---	G	77767002	A	G	77767002	2	3	306	1	0	0	0	0	0	0	0	1	17632	40	2	2		2	ZFHX4	8	77767002	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	47294778	77767002	68597020	19	11200										
NR6A1	2649	broad.mit.edu	37	chr9	127289153	127289153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	agaggtagatgagccgctcgAtcacctccatcccttcatca	8	14	3	3			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr9:127289153A>G	ENST00000487099.2	-	8	1263	c.1106T>C	c.(1105-1107)aTc>aCc	p.I369T	NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T|NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	369					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)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GAGCCGCTCGATCACCTCCAT	0.488																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(1105-1107)aTc>aCc		nuclear receptor subfamily 6, group A, member 1							139	115	123					9																	127289153		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.chr9:127289153A>G	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.1106T>C	9.37:g.127289153A>G	ENSP00000420267:p.Ile369Thr		Somatic				NR6A1_ENST00000373584.3_Missense_Mutation_p.I365T|NR6A1_ENST00000344523.4_Missense_Mutation_p.I368T|NR6A1_ENST00000416460.2_Missense_Mutation_p.I364T	p.I369T	NM_001278546.1	NP_001265475.1	WXS	Illumina GAIIx	Phase_I	Q15406	NR6A1_HUMAN			8	1263	-			369					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	c.1106T>C	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227582	0.58668	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.041356	0.85682	D	0.000000	D	0.95082	0.8407	L	0.36672	1.1	0.44129	D	0.996912	B;P;B	0.34699	0.183;0.464;0.009	B;B;B	0.39465	0.131;0.3;0.013	D	0.95141	0.8264	10	0.66056	D	0.02	.	14.4633	0.67467	1.0:0.0:0.0:0.0	.	365;369;364	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	T	369;365;364;368	ENSP00000420267:I369T;ENSP00000362686:I365T;ENSP00000413701:I364T;ENSP00000341135:I368T	ENSP00000341135:I368T	I	-	2	0	NR6A1	126328974	1.000000	0.71417	0.949000	0.38748	0.982000	0.71751	8.687000	0.91255	2.060000	0.61445	0.533000	0.62120	ATC		0.488	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			19	28	19	28	---	---	---	---	G	127289153	A	G	127289153	3	3	306	1	0	0	0	0	1	0	0	0	10637	333	12	2	348	2	NR6A1	9	127289153	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		127289153	13924278	20	11201										
SPAG6	9576	broad.mit.edu	37	chr10	22634710	22634710	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	cagatggtggcggagctggcGactagaccccaaaacatcga	13	11	0	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr10:22634710G>A	ENST00000376624.3	+	2	226	c.84G>A	c.(82-84)gcG>gcA	p.A28A	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000313311.6_Silent_p.A28A|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376603.2_Silent_p.A28A	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	28					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						CGGAGCTGGCGACTAGACCCC	0.687																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.(82-84)gcG>gcA		sperm associated antigen 6							45	41	43					10																	22634710		2203	4299	6502	SO:0001819	synonymous_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22634710G>A	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.84G>A	10.37:g.22634710G>A			Somatic				SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.A28A|SPAG6_ENST00000376624.3_Silent_p.A28A|SPAG6_ENST00000313311.6_Silent_p.A28A	p.A28A			WXS	Illumina GAIIx	Phase_I	O75602	SPAG6_HUMAN			2	226	+			28					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	ENST00000376624.3	37	c.84G>A	CCDS7139.1																																																																																				0.687	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			4	14	4	14	---	---	---	---	A	22634710	G	A	22634710	2	1	306	1	0	0	0	0	0	0	0	1	14982	1045	37	2		2	SPAG6	10	22634710	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		22634710	112900037	21	11202										
B4GALNT4	338707	broad.mit.edu	37	chr11	373292	373292	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ttgtggcctttgtgggcaagGtacccccaccccagccctgg	12	15	0	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:373292G>C	ENST00000329962.6	+	6	636		c.e6+1			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)		TGTGGGCAAGGTACCCCCACC	0.627																																						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.e6+1		beta-1,4-N-acetyl-galactosaminyl transferase 4							47	46	46					11																	373292		2194	4294	6488	SO:0001630	splice_region_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373292G>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.636+1G>C	11.37:g.373292G>C			Somatic						NM_178537.4	NP_848632.2	WXS	Illumina GAIIx	Phase_I	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)	6	636	+		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	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781945	0.70222	.	.	ENSG00000182272	ENST00000329962	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4344	0.83871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT4	363292	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.709000	0.74665	2.164000	0.68074	0.472000	0.43445	.		0.627	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537	Intron	6	12	6	12	---	---	---	---	C	373292	G	C	373292	5	2	306	1	0	0	0	0	0	0	1	0	1269	1275	44	4	659	4	B4GALNT4	11	373292	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		373292	134633224	22	11203										
B4GALNT4	338707	broad.mit.edu	37	chr11	379668	379668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ggccactgcgcctggcctggCgccaggacgtgatggttcac	15	14	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:379668C>T	ENST00000329962.6	+	15	2455	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	819					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)		CCTGGCCTGGCGCCAGGACGT	0.687																																						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.(2455-2457)Cgc>Tgc		beta-1,4-N-acetyl-galactosaminyl transferase 4							6	7	7					11																	379668		2039	4105	6144	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379668C>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.2455C>T	11.37:g.379668C>T	ENSP00000328277:p.Arg819Cys		Somatic					p.R819C	NM_178537.4	NP_848632.2	WXS	Illumina GAIIx	Phase_I	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)	15	2455	+		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)	819					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2455C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704889	0.68615	.	.	ENSG00000182272	ENST00000329962	T	0.15952	2.38	3.61	3.61	0.41365	.	0.261873	0.31784	N	0.007061	T	0.33089	0.0851	L	0.59436	1.845	0.48571	D	0.999677	D	0.71674	0.998	D	0.75020	0.985	T	0.03121	-1.1070	10	0.56958	D	0.05	-22.6204	9.3009	0.37845	0.3749:0.6251:0.0:0.0	.	819	Q76KP1	B4GN4_HUMAN	C	819	ENSP00000328277:R819C	ENSP00000328277:R819C	R	+	1	0	B4GALNT4	369668	0.932000	0.31603	1.000000	0.80357	0.996000	0.88848	0.689000	0.25437	2.022000	0.59522	0.555000	0.69702	CGC		0.687	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		3	10	3	10	---	---	---	---	T	379668	C	T	379668	3	4	306	1	0	0	0	0	1	0	0	0	1269	768	27	2	2513	2	B4GALNT4	11	379668	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	6376	379668	134626848	23	11204										
TRIM22	10346	broad.mit.edu	37	chr11	5718478	5718478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gtataatttatttcttacagGaaaagctgcaggtagccctg	9	7	1	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:5718478G>A	ENST00000379965.3	+	3	701	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	142					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)		TTTCTTACAGGAAAAGCTGCA	0.458											OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(424-426)Gaa>Aaa		tripartite motif containing 22							29	31	31					11																	5718478		1833	4119	5952	SO:0001630	splice_region_variant	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.chr11:5718478G>A	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.424-1G>A	11.37:g.5718478G>A			Somatic	OREG0003730	type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM5_ENST00000380027.1_Intron	p.E142K	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	WXS	Illumina GAIIx	Phase_I	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	3	701	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	142					Q05CQ0|Q15521	Splice_Site	SNP	ENST00000379965.3	37	c.424G>A	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828869	0.32329	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000414641	T;T;T	0.57436	0.4;0.4;0.4	4.2	1.18	0.20946	.	.	.	.	.	T	0.56396	0.1982	L	0.48935	1.535	0.26094	N	0.980911	P;P	0.45594	0.862;0.561	P;P	0.56788	0.806;0.46	T	0.45527	-0.9255	8	.	.	.	.	7.0624	0.25133	0.3154:0.0:0.6846:0.0	.	142;142	Q8IYM9-2;Q8IYM9	.;TRI22_HUMAN	K	142	ENSP00000369299:E142K;ENSP00000400417:E142K;ENSP00000396849:E142K	.	E	+	1	0	TRIM22	5675054	0.862000	0.29867	0.606000	0.28943	0.118000	0.20060	0.980000	0.29513	0.140000	0.18849	0.467000	0.42956	GAA		0.458	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	Missense_Mutation	7	13	7	13	---	---	---	---	A	5718478	G	A	5718478	5	1	306	1	0	0	0	0	0	0	1	0	16493	1188	41	2	430	2	TRIM22	11	5718478	Splice_Site	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	5338810	5718478	129288038	24	11205										
GAL3ST3	89792	broad.mit.edu	37	chr11	65810951	65810951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	agtgcgccgagaagttgcggGggtagcagaactggtgctcg	18	8	0	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:65810951G>T	ENST00000312006.4	-	3	604	c.323C>A	c.(322-324)cCc>cAc	p.P108H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	108					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						GAAGTTGCGGGGGTAGCAGAA	0.692																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(322-324)cCc>cAc		galactose-3-O-sulfotransferase 3							23	23	23					11																	65810951		2201	4290	6491	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.chr11:65810951G>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.323C>A	11.37:g.65810951G>T	ENSP00000308591:p.Pro108His		Somatic				GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P108H	p.P108H	NM_033036.2	NP_149025.1	WXS	Illumina GAIIx	Phase_I	Q96A11	G3ST3_HUMAN			3	604	-			108					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.323C>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269151	0.80469	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.32023	1.47;1.47	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000001	T	0.59932	0.2230	M	0.87617	2.895	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.67968	-0.5533	10	0.62326	D	0.03	-35.161	15.0675	0.72008	0.0:0.0:1.0:0.0	.	108	Q96A11	G3ST3_HUMAN	H	108	ENSP00000308591:P108H;ENSP00000434829:P108H	ENSP00000308591:P108H	P	-	2	0	GAL3ST3	65567527	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	9.772000	0.98984	2.213000	0.71641	0.462000	0.41574	CCC		0.692	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		11	65	11	65	---	---	---	---	T	65810951	G	T	65810951	3	4	306	1	0	0	0	0	1	0	0	0	6199	1232	43	1	976	1	GAL3ST3	11	65810951	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	60092473	65810951	69195565	25	11206										
P4HA3	283208	broad.mit.edu	37	chr11	74013632	74013632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	caccttctcatagccatcctTcagagctgtaaaagtagtaa	6	11	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:74013632T>G	ENST00000331597.4	-	3	394	c.349A>C	c.(349-351)Aag>Cag	p.K117Q	P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	117						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)					TAGCCATCCTTCAGAGCTGTA	0.463																																						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.(349-351)Aag>Cag		prolyl 4-hydroxylase, alpha polypeptide III							71	67	69					11																	74013632		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.chr11:74013632T>G	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.349A>C	11.37:g.74013632T>G	ENSP00000332170:p.Lys117Gln		Somatic				P4HA3_ENST00000427714.2_Missense_Mutation_p.K117Q	p.K117Q	NM_182904.3	NP_878907.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N8	P4HA3_HUMAN			3	394	-	Breast(11;2.31e-05)		117					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.349A>C	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988178	0.35036	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.55930	0.51;0.49	4.96	4.96	0.65561	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.049163	0.85682	D	0.000000	T	0.60766	0.2294	L	0.43152	1.355	0.38461	D	0.947222	D;B	0.71674	0.998;0.302	D;B	0.69824	0.966;0.229	T	0.57717	-0.7763	10	0.18276	T	0.48	-29.2261	12.8993	0.58117	0.0:0.0:0.0:1.0	.	117;117	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	Q	117	ENSP00000332170:K117Q;ENSP00000401749:K117Q	ENSP00000332170:K117Q	K	-	1	0	P4HA3	73691280	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.087000	0.64480	2.201000	0.70794	0.460000	0.39030	AAG		0.463	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		5	79	5	79	---	---	---	---	G	74013632	T	G	74013632	3	3	306	1	0	0	0	0	1	0	0	0	11358	1792	62	5	1329	5	P4HA3	11	74013632	Missense_Mutation	SNP	T	TCGA-YJ-A8SW-01A-11D-A377-08	8202681	74013632	60992884	26	11207										
OPCML	4978	broad.mit.edu	37	chr11	132305999	132305999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ccatacaatgtgatgctggcAttggtgttcccaagcttgtt	10	9	0	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr11:132305999A>T	ENST00000331898.7	-	6	1496	c.918T>A	c.(916-918)aaT>aaA	p.N306K	OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	306	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)		TGATGCTGGCATTGGTGTTCC	0.493																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(916-918)aaT>aaA		opioid binding protein/cell adhesion molecule-like							120	103	108					11																	132305999		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132305999A>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.918T>A	11.37:g.132305999A>T	ENSP00000330862:p.Asn306Lys		Somatic				OPCML_ENST00000524381.1_Missense_Mutation_p.N299K|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.N265K|OPCML_ENST00000541867.1_Missense_Mutation_p.N306K	p.N306K	NM_002545.3	NP_002536.1	WXS	Illumina GAIIx	Phase_I	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1496	-	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)	306			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.918T>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703108	0.68501	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.91	-2.63	0.06133	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.58969	1.84	0.50813	D	0.99989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.71984	-0.4427	10	0.87932	D	0	-28.9798	13.3779	0.60750	0.5157:0.0:0.4843:0.0	.	306;299;305;306	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	306;299;265;273;306	ENSP00000330862:N306K;ENSP00000434750:N299K;ENSP00000363910:N265K;ENSP00000445496:N306K	ENSP00000330862:N306K	N	-	3	2	OPCML	131811209	0.684000	0.27642	0.990000	0.47175	0.984000	0.73092	0.021000	0.13489	-0.441000	0.07201	-1.305000	0.01319	AAT		0.493	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		15	16	15	16	---	---	---	---	T	132305999	A	T	132305999	3	4	306	1	0	0	0	0	1	0	0	0	10874	214	8	5	127	5	OPCML	11	132305999	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	58292367	132305999	2700517	27	11208										
C12orf35	55196	broad.mit.edu	37	chr12	32138464	32138464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ctcaaaatccaccattctcaGgagtctaaaacatacaacat	3	12	3	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:32138464G>T	ENST00000312561.4	+	4	4989	c.4575G>T	c.(4573-4575)caG>caT	p.Q1525H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1525																	ACCATTCTCAGGAGTCTAAAA	0.363																																						ENST00000312561.4																			0											c.(4573-4575)caG>caT		KIAA1551							56	56	56					12																	32138464		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32138464G>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.4575G>T	12.37:g.32138464G>T	ENSP00000310338:p.Gln1525His		Somatic				KIAA1551_ENST00000535596.1_Intron	p.Q1525H	NM_018169.3	NP_060639	WXS	Illumina GAIIx	Phase_I					4	4989	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4575G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147283	0.09134	.	.	ENSG00000174718	ENST00000312561	T	0.11604	2.76	5.33	0.825	0.18824	.	0.797600	0.11389	N	0.569020	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.35073	0.195	T	0.43032	-0.9416	9	.	.	.	.	4.372	0.11253	0.4854:0.1721:0.3425:0.0	.	1525	Q9HCM1	CL035_HUMAN	H	1525	ENSP00000310338:Q1525H	.	Q	+	3	2	C12orf35	32029731	0.036000	0.19791	0.141000	0.22245	0.245000	0.25701	0.317000	0.19487	0.232000	0.21100	-0.262000	0.10625	CAG		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		17	27	17	27	---	---	---	---	T	32138464	G	T	32138464	3	4	306	1	0	0	0	0	1	0	0	0	1682	991	35	1	4577	1	C12orf35	12	32138464	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		32138464	101713431	28	11209										
ANKRD13A	88455	broad.mit.edu	37	chr12	110456956	110456956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	attaatagacaactgggcggAgttaatggaagtcaaccatg	11	6	1	1	rs373926911		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr12:110456956A>C	ENST00000261739.4	+	6	723	c.557A>C	c.(556-558)gAg>gCg	p.E186A	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	186						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTGGGCGGAGTTAATGGAA	0.423																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(556-558)gAg>gCg		ankyrin repeat domain 13A							136	141	139					12																	110456956		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110456956A>C	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.557A>C	12.37:g.110456956A>C	ENSP00000261739:p.Glu186Ala		Somatic				ANKRD13A_ENST00000550404.1_3'UTR	p.E186A	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	Q8IZ07	AN13A_HUMAN			6	723	+			186					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.557A>C	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.505|8.505	0.865240|0.865240	0.17250|0.17250	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261739|ENST00000547639	T|.	0.44083|.	0.93|.	5.92|5.92	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72137|0.72137	0.3423|0.3423	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;P;D|.	0.76494|.	0.999;0.63;0.999|.	D;B;D|.	0.85130|.	0.997;0.389;0.997|.	T|T	0.71810|0.71810	-0.4480|-0.4480	10|5	0.14252|.	T|.	0.57|.	-32.3992|-32.3992	11.8004|11.8004	0.52124|0.52124	0.8685:0.0:0.0:0.1315|0.8685:0.0:0.0:0.1315	.|.	186;186;186|.	B4DYP5;Q3ZTS7;Q8IZ07|.	.;.;AN13A_HUMAN|.	A|R	186|40	ENSP00000261739:E186A|.	ENSP00000261739:E186A|.	E|S	+|+	2|1	0|0	ANKRD13A|ANKRD13A	108941339|108941339	1.000000|1.000000	0.71417|0.71417	0.347000|0.347000	0.25668|0.25668	0.189000|0.189000	0.23516|0.23516	5.947000|5.947000	0.70242|0.70242	1.047000|1.047000	0.40274|0.40274	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.423	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		48	90	48	90	---	---	---	---	C	110456956	A	C	110456956	3	2	306	1	0	0	0	0	1	0	0	0	641	304	11	5	579	5	ANKRD13A	12	110456956	Missense_Mutation	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08	78318492	110456956	23394939	29	11210										
ZNF770	54989	broad.mit.edu	37	chr15	35275466	35275466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	aggttttatgacacacatcaCattcaaatggcttttgacca	6	9	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:35275466C>A	ENST00000356321.4	-	3	514	c.170G>T	c.(169-171)tGt>tTt	p.C57F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	57					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)		ACACACATCACATTCAAATGG	0.358																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(169-171)tGt>tTt		zinc finger protein 770							78	75	76					15																	35275466		2201	4295	6496	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275466C>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.170G>T	15.37:g.35275466C>A	ENSP00000348673:p.Cys57Phe		Somatic					p.C57F	NM_014106.3	NP_054825.2	WXS	Illumina GAIIx	Phase_I	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	514	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	57					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.170G>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213409	0.58452	.	.	ENSG00000198146	ENST00000356321	D	0.85088	-1.94	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	D	0.95175	0.8436	H	0.96576	3.845	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.96668	0.9494	10	0.87932	D	0	-7.1698	17.5011	0.87732	0.0:1.0:0.0:0.0	.	57	Q6IQ21	ZN770_HUMAN	F	57	ENSP00000348673:C57F	ENSP00000348673:C57F	C	-	2	0	ZNF770	33062758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.530000	0.81962	2.596000	0.87737	0.655000	0.94253	TGT		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		41	54	41	54	---	---	---	---	A	35275466	C	A	35275466	3	1	306	1	0	0	0	0	1	0	0	0	18140	478	17	3	1909	3	ZNF770	15	35275466	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		35275466	67255926	30	11211										
CA12	771	broad.mit.edu	37	chr15	63638797	63638797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tgtagccttggaactcgaggGgcgtgaggctggcgtcatac	16	9	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr15:63638797G>T	ENST00000178638.3	-	3	658	c.218C>A	c.(217-219)cCc>cAc	p.P73H	CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	73					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)			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)	GAACTCGAGGGGCGTGAGGCT	0.572																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(217-219)cCc>cAc		carbonic anhydrase XII	Acetazolamide(DB00819)						161	138	146					15																	63638797		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63638797G>T	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.218C>A	15.37:g.63638797G>T	ENSP00000178638:p.Pro73His		Somatic				CA12_ENST00000344366.3_Missense_Mutation_p.P73H|CA12_ENST00000422263.2_Intron	p.P73H	NM_001218.3	NP_001209.1	WXS	Illumina GAIIx	Phase_I	O43570	CAH12_HUMAN			3	658	-			73					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.218C>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598420	0.87055	.	.	ENSG00000074410	ENST00000178638;ENST00000344366	T;T	0.57436	0.4;0.4	5.36	5.36	0.76844	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.099373	0.64402	D	0.000001	T	0.79811	0.4510	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.941	D	0.84750	0.0756	10	0.66056	D	0.02	.	18.0061	0.89210	0.0:0.0:1.0:0.0	.	73;73	O43570-2;O43570	.;CAH12_HUMAN	H	73	ENSP00000178638:P73H;ENSP00000343088:P73H	ENSP00000178638:P73H	P	-	2	0	CA12	61425850	1.000000	0.71417	0.440000	0.26846	0.886000	0.51366	9.604000	0.98317	2.665000	0.90641	0.561000	0.74099	CCC		0.572	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		4	55	4	55	---	---	---	---	T	63638797	G	T	63638797	3	4	306	1	0	0	0	0	1	0	0	0	2513	1232	43	1	882	1	CA12	15	63638797	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	28363331	63638797	38892595	31	11212										
SPN	6693	broad.mit.edu	37	chr16	29675595	29675595	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ctggagacttccaaaggcacCtctggaccccctgttaccat	8	15	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr16:29675595C>A	ENST00000360121.3	+	2	638	c.546C>A	c.(544-546)acC>acA	p.T182T	SPN_ENST00000395389.2_Silent_p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					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)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCAAAGGCACCTCTGGACCCC	0.592																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(544-546)acC>acA		sialophorin							107	116	113					16																	29675595		2197	4300	6497	SO:0001819	synonymous_variant	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675595C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.546C>A	16.37:g.29675595C>A			Somatic				SPN_ENST00000395389.2_Silent_p.T182T	p.T182T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	WXS	Illumina GAIIx	Phase_I	P16150	LEUK_HUMAN			2	638	+			182					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000360121.3	37	c.546C>A	CCDS10650.1																																																																																				0.592	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			41	145	41	145	---	---	---	---	A	29675595	C	A	29675595	2	1	306	1	0	0	0	0	0	0	0	1	15072	668	24	1		1	SPN	16	29675595	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		29675595	60679158	32	11213										
MYH8	4626	broad.mit.edu	37	chr17	10296458	10296458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gcgtgattcttggattacttCttccacttcactttggagtt	8	9	3	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:10296458C>T	ENST00000403437.2	-	36	5330	c.5236G>A	c.(5236-5238)Gaa>Aaa	p.E1746K	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	1746					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						TGGATTACTTCTTCCACTTCA	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.(5236-5238)Gaa>Aaa		myosin, heavy chain 8, skeletal muscle, perinatal							309	269	282					17																	10296458		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.chr17:10296458C>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.5236G>A	17.37:g.10296458C>T	ENSP00000384330:p.Glu1746Lys		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.E1746K	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			36	5330	-			1746					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5236G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495441	0.85069	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85955	-2.05	5.21	5.21	0.72293	Myosin tail (1);	0.196487	0.24518	U	0.037825	D	0.94023	0.8085	H	0.96239	3.79	0.58432	D	0.999992	P	0.40970	0.734	P	0.52386	0.697	D	0.95272	0.8378	10	0.87932	D	0	.	18.947	0.92626	0.0:1.0:0.0:0.0	.	1746	P13535	MYH8_HUMAN	K	1746	ENSP00000384330:E1746K	ENSP00000252173:E1746K	E	-	1	0	MYH8	10237183	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.573000	0.82421	2.712000	0.92718	0.585000	0.79938	GAA		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		45	184	45	184	---	---	---	---	T	10296458	C	T	10296458	3	4	306	1	0	0	0	0	1	0	0	0	10041	922	32	2	597	2	MYH8	17	10296458	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		10296458	70898752	33	11214										
PLXDC1	57125	broad.mit.edu	37	chr17	37243903	37243903	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gccgacatgctggtgaccttGctggggtccagctctatgcg	14	12	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:37243903G>A	ENST00000315392.4	-	8	1075	c.864C>T	c.(862-864)agC>agT	p.S288S	PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000444911.2_Silent_p.S248S	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	288					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						TGGTGACCTTGCTGGGGTCCA	0.557																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(862-864)agC>agT		plexin domain containing 1							98	74	82					17																	37243903		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37243903G>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.864C>T	17.37:g.37243903G>A			Somatic				PLXDC1_ENST00000444911.2_Silent_p.S248S|PLXDC1_ENST00000394316.2_Silent_p.S288S|PLXDC1_ENST00000539608.1_Silent_p.S215S|PLXDC1_ENST00000493200.1_5'UTR	p.S288S	NM_020405.4	NP_065138.2	WXS	Illumina GAIIx	Phase_I	Q8IUK5	PXDC1_HUMAN			8	1075	-			288					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.864C>T	CCDS11333.1																																																																																				0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		7	22	7	22	---	---	---	---	A	37243903	G	A	37243903	2	1	306	1	0	0	0	0	0	0	0	1	12117	1310	46	2		2	PLXDC1	17	37243903	Silent	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	26947445	37243903	43951307	34	11215										
ABCA8	10351	broad.mit.edu	37	chr17	66902187	66902187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ttcatgcattttatttacccGattcattaattgtagatttt	4	6	2	1	rs370259792		TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr17:66902187G>A	ENST00000269080.2	-	17	2413	c.2276C>T	c.(2275-2277)tCg>tTg	p.S759L	ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L|ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	759					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)					TTATTTACCCGATTCATTAAT	0.328																																						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.(2275-2277)tCg>tTg		ATP-binding cassette, sub-family A (ABC1), member 8		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	118	119	119		2276	3.4	0.7	17		119	0,8594		0,0,4297	no	missense	ABCA8	NM_007168.2	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	759/1582	66902187	1,12999	2203	4297	6500	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66902187G>A	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.2276C>T	17.37:g.66902187G>A	ENSP00000269080:p.Ser759Leu		Somatic				ABCA8_ENST00000430352.2_Missense_Mutation_p.S799L|ABCA8_ENST00000586539.1_Missense_Mutation_p.S799L	p.S759L	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			17	2413	-	Breast(10;4.56e-13)		759					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2276C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760474	0.31137	2.27E-4	0.0	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86627	-2.15;-2.12	5.38	3.42	0.39159	.	0.454373	0.18561	N	0.137613	D	0.82614	0.5075	M	0.66939	2.045	0.20638	N	0.999878	B;B;B;B;B	0.15719	0.012;0.014;0.002;0.001;0.003	B;B;B;B;B	0.12837	0.008;0.006;0.002;0.003;0.002	T	0.70428	-0.4874	10	0.35671	T	0.21	.	5.0405	0.14456	0.1701:0.0:0.6642:0.1657	.	738;799;799;799;759	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	L	759;799;738	ENSP00000269080:S759L;ENSP00000402814:S799L	ENSP00000269080:S759L	S	-	2	0	ABCA8	64413782	1.000000	0.71417	0.692000	0.30179	0.808000	0.45660	2.063000	0.41423	0.849000	0.35215	-0.137000	0.14449	TCG		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		29	57	29	57	---	---	---	---	A	66902187	G	A	66902187	3	1	306	1	0	0	0	0	1	0	0	0	38	1059	37	2	2557	2	ABCA8	17	66902187	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	29658284	66902187	14293023	35	11216										
APC2	10297	broad.mit.edu	37	chr19	1465241	1465241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	atcgtgagcaacgcgtgcggCacgctctggaacctgtcggc	14	13	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:1465241C>T	ENST00000535453.1	+	14	3654	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.G373G|APC2_ENST00000233607.2_Silent_p.G647G|CTB-25B13.12_ENST00000588225.1_RNA			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)		ACGCGTGCGGCACGCTCTGGA	0.647																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1939-1941)ggC>ggT		adenomatosis polyposis coli 2							23	20	21					19																	1465241		2190	4292	6482	SO:0001819	synonymous_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.chr19:1465241C>T		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.1941C>T	19.37:g.1465241C>T			Somatic				APC2_ENST00000233607.2_Silent_p.G647G|APC2_ENST00000238483.4_Silent_p.G373G|C19orf25_ENST00000588427.1_Intron	p.G647G			WXS	Illumina GAIIx	Phase_I	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	3654	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	647					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1941C>T	CCDS12068.1																																																																																				0.647	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	4	4	4	---	---	---	---	T	1465241	C	T	1465241	2	4	306	1	0	0	0	0	0	0	0	1	764	697	25	2		2	APC2	19	1465241	Silent	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		1465241	57663742	36	11217										
ZNF175	7728	broad.mit.edu	37	chr19	52090595	52090595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ggtgatataccctgtatatgCaaggaatgtgggaaggtctt	13	5	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:52090595C>G	ENST00000262259.2	+	5	1369	c.1011C>G	c.(1009-1011)tgC>tgG	p.C337W	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	337					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)		CCTGTATATGCAAGGAATGTG	0.408																																						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.(1009-1011)tgC>tgG		zinc finger protein 175							88	87	87					19																	52090595		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090595C>G	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.1011C>G	19.37:g.52090595C>G	ENSP00000262259:p.Cys337Trp		Somatic				ZNF175_ENST00000436511.2_Intron	p.C337W	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1369	+		all_neural(266;0.0299)	337					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1011C>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	7.471	0.646707	0.14516	.	.	ENSG00000105497	ENST00000262259	T	0.37058	1.22	2.3	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66157	0.2761	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64774	-0.6328	9	0.87932	D	0	.	5.2267	0.15399	0.0:0.1688:0.0:0.8312	.	337	Q9Y473	ZN175_HUMAN	W	337	ENSP00000262259:C337W	ENSP00000262259:C337W	C	+	3	2	ZNF175	56782407	0.000000	0.05858	0.939000	0.37840	0.318000	0.28184	-0.926000	0.03988	0.340000	0.23745	-0.471000	0.05019	TGC		0.408	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		13	48	13	48	---	---	---	---	G	52090595	C	G	52090595	3	3	306	1	0	0	0	0	1	0	0	0	17742	718	25	4	1025	4	ZNF175	19	52090595	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	50625354	52090595	7038388	37	11218										
ZNF347	84671	broad.mit.edu	37	chr19	53643640	53643640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tacatttgtaaggtttcccaCcagtatggattgtctgatgg	10	7	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53643640C>A	ENST00000334197.7	-	5	2509	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V	ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.G815V	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	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)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCCCACCAGTATGGAT	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2443-2445)gGt>gTt		zinc finger protein 347							182	179	180					19																	53643640		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643640C>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.2441G>T	19.37:g.53643640C>A	ENSP00000334146:p.Gly814Val		Somatic				ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G814V|ZNF347_ENST00000601469.2_Missense_Mutation_p.G815V	p.G815V	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2870	-			814					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2444G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307407	0.40795	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.21361	2.01;2.01	2.37	-2.17	0.07059	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	M	0.68728	2.09	0.44966	D	0.997989	P;D	0.76494	0.797;0.999	B;D	0.64237	0.14;0.923	T	0.32241	-0.9914	9	0.87932	D	0	.	3.9593	0.09404	0.1764:0.5744:0.0:0.2492	.	815;814	G5E9N4;Q96SE7	.;ZN347_HUMAN	V	814;815;71	ENSP00000334146:G814V;ENSP00000405218:G815V	ENSP00000334146:G814V	G	-	2	0	ZNF347	58335452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.596000	0.24044	-0.516000	0.06470	-0.378000	0.06908	GGT		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		66	154	66	154	---	---	---	---	A	53643640	C	A	53643640	3	1	306	1	0	0	0	0	1	0	0	0	17858	507	18	3	82	3	ZNF347	19	53643640	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	1553045	53643640	5485343	38	11219										
ZNF665	79788	broad.mit.edu	37	chr19	53668835	53668835	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	ttcgatgacttgcaaggtgtGaattttgagtgaagcacttg	12	5	0	4			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:53668835G>C	ENST00000600412.1	-	2	828	c.713C>G	c.(712-714)tCa>tGa	p.S238*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	238					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)		TGCAAGGTGTGAATTTTGAGT	0.423																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(712-714)tCa>tGa		zinc finger protein 665							126	135	132					19																	53668835		2203	4300	6503	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668835G>C		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.713C>G	19.37:g.53668835G>C	ENSP00000469154:p.Ser238*		Somatic				ZNF665_ENST00000396424.3_Nonsense_Mutation_p.S303*	p.S238*			WXS	Illumina GAIIx	Phase_I	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	828	-			238					A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.713C>G		.	.	.	.	.	.	.	.	.	.	G	17.17	3.322529	0.60634	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.24	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.5351	0.50633	0.0:0.0:1.0:0.0	.	.	.	.	X	303	.	ENSP00000379702:S303X	S	-	2	0	ZNF665	58360647	0.000000	0.05858	0.006000	0.13384	0.061000	0.15899	-0.200000	0.09478	1.242000	0.43836	0.436000	0.28706	TCA		0.423	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		52	179	52	179	---	---	---	---	C	53668835	G	C	53668835	4	2	306	1	0	0	0	0	0	1	0	0	18070	1294	45	4	1132	4	ZNF665	19	53668835	Nonsense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	25195	53668835	5460148	39	11220										
NCR1	9437	broad.mit.edu	37	chr19	55418146	55418146	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tggtcagagcccagcaacttGctggatctggtggtaacagg	14	9	2	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:55418146G>C	ENST00000291890.4	+	3	374	c.336G>C	c.(334-336)ttG>ttC	p.L112F	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000594765.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	112	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCAGCAACTTGCTGGATCTGG	0.522																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(334-336)ttG>ttC		natural cytotoxicity triggering receptor 1							75	82	80					19																	55418146		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55418146G>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.336G>C	19.37:g.55418146G>C	ENSP00000291890:p.Leu112Phe		Somatic				NCR1_ENST00000338835.5_Missense_Mutation_p.L112F|NCR1_ENST00000598576.1_Missense_Mutation_p.L100F|NCR1_ENST00000447255.1_Missense_Mutation_p.L112F|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.L112F	p.L112F			WXS	Illumina GAIIx	Phase_I	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	361	+			112			Ig-like 1.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.336G>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974734	0.18736	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.12774	2.65;2.65;2.65	3.74	-2.93	0.05598	Immunoglobulin-like fold (1);	0.785212	0.11163	N	0.592885	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B;B;B	0.26318	0.146;0.04;0.088	B;B;B	0.28305	0.088;0.068;0.088	T	0.34900	-0.9810	10	0.87932	D	0	.	2.5603	0.04770	0.1496:0.4159:0.3075:0.127	.	112;112;112	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	F	112	ENSP00000291890:L112F;ENSP00000404434:L112F;ENSP00000339515:L112F	ENSP00000291890:L112F	L	+	3	2	NCR1	60109958	0.037000	0.19845	0.003000	0.11579	0.001000	0.01503	-0.180000	0.09754	-0.448000	0.07128	-1.186000	0.01703	TTG		0.522	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			23	93	23	93	---	---	---	---	C	55418146	G	C	55418146	3	2	306	1	0	0	0	0	1	0	0	0	10237	1310	46	4	346	4	NCR1	19	55418146	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08	1749311	55418146	3710837	40	11221										
TRIM28	10155	broad.mit.edu	37	chr19	59061121	59061121	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tagggaggagtggagctgctCactctgccatgtgctccctg	14	11	2	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr19:59061121C>T	ENST00000253024.5	+	14	2289	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	667					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)		TGGAGCTGCTCACTCTGCCAT	0.592																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1999-2001)tCa>tTa		tripartite motif containing 28							141	132	135					19																	59061121		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.chr19:59061121C>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.2000C>T	19.37:g.59061121C>T	ENSP00000253024:p.Ser667Leu		Somatic				TRIM28_ENST00000341753.6_Missense_Mutation_p.S585L	p.S667L	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	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)	14	2289	+		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)	667					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2000C>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109153	0.56398	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	D;D	0.84873	-1.91;-1.91	4.55	4.55	0.56014	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.331836	0.21359	N	0.075828	D	0.85894	0.5803	N	0.17800	0.525	0.36388	D	0.862359	D;D;D	0.65815	0.994;0.974;0.995	D;D;D	0.72625	0.962;0.937;0.978	D	0.89069	0.3468	10	0.87932	D	0	-12.288	13.0711	0.59061	0.0:1.0:0.0:0.0	.	585;667;667	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	L	667;585	ENSP00000253024:S667L;ENSP00000342232:S585L	ENSP00000253024:S667L	S	+	2	0	TRIM28	63752933	0.994000	0.37717	0.994000	0.49952	0.992000	0.81027	2.851000	0.48302	2.556000	0.86216	0.436000	0.28706	TCA		0.592	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		53	73	53	73	---	---	---	---	T	59061121	C	T	59061121	3	4	306	1	0	0	0	0	1	0	0	0	16499	838	29	2	2054	2	TRIM28	19	59061121	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08	3642975	59061121	67862	41	11222										
GINS1	9837	broad.mit.edu	37	chr20	25388520	25388520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gcgcgcccgaagggcaactgCctgccttcaacgtgaggggc	15	14	1	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr20:25388520C>T	ENST00000262460.4	+	1	158	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	22					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGGCAACTGCCTGCCTTCAA	0.677																																						ENST00000262460.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(64-66)Cct>Tct		GINS complex subunit 1 (Psf1 homolog)							32	29	30					20																	25388520		2202	4300	6502	SO:0001583	missense	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25388520C>T	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.64C>T	20.37:g.25388520C>T	ENSP00000262460:p.Pro22Ser		Somatic				GINS1_ENST00000484893.1_3'UTR|GINS1_ENST00000429262.2_Missense_Mutation_p.P22S	p.P22S	NM_021067.3	NP_066545.3	WXS	Illumina GAIIx	Phase_I	Q14691	PSF1_HUMAN			1	158	+			22					Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	c.64C>T	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684521	0.68157	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.58940	0.3;0.3	4.02	4.02	0.46733	.	0.117105	0.64402	D	0.000015	T	0.59088	0.2168	M	0.74647	2.275	0.58432	D	0.999999	P	0.36599	0.56	B	0.37047	0.24	T	0.64960	-0.6284	10	0.42905	T	0.14	-3.8974	15.4342	0.75133	0.0:1.0:0.0:0.0	.	22	Q14691	PSF1_HUMAN	S	22	ENSP00000262460:P22S;ENSP00000408669:P22S	ENSP00000262460:P22S	P	+	1	0	GINS1	25336520	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	4.905000	0.63286	2.228000	0.72767	0.563000	0.77884	CCT		0.677	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		7	22	7	22	---	---	---	---	T	25388520	C	T	25388520	3	4	306	1	0	0	0	0	1	0	0	0	6387	739	26	2	66	2	GINS1	20	25388520	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		25388520	37637000	42	11223										
U2AF1	7307	broad.mit.edu	37	chr21	44514890	44514890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gccttttccgcatcttcctcAcggcgaaactgaaaagacaa	7	13	2	2			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr21:44514890A>G	ENST00000291552.4	-	6	449	c.357T>C	c.(355-357)cgT>cgC	p.R119R	U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_Silent_p.R46R|U2AF1_ENST00000459639.1_Silent_p.R46R	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	119	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTTCCTCACGGCGAAACT	0.448			Mis		"CLL, MDS"																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(136-138)cgT>cgC		U2 small nuclear RNA auxiliary factor 1							60	46	50					21																	44514890		2203	4300	6503	SO:0001819	synonymous_variant	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.chr21:44514890A>G	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.357T>C	21.37:g.44514890A>G			Somatic				U2AF1_ENST00000380276.2_Silent_p.R119R|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Silent_p.R119R|U2AF1_ENST00000398137.1_Silent_p.R46R	p.R46R			WXS	Illumina GAIIx	Phase_I	Q01081	U2AF1_HUMAN			5	1162	-			119					Q701P4|Q71RF1	Silent	SNP	ENST00000291552.4	37	c.138T>C	CCDS13694.1																																																																																				0.448	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		3	38	3	38	---	---	---	---	G	44514890	A	G	44514890	2	3	306	1	0	0	0	0	0	0	0	1	16818	146	6	2		2	U2AF1	21	44514890	Silent	SNP	A	TCGA-YJ-A8SW-01A-11D-A377-08		44514890	3615005	43	11224										
C22orf43	51233	broad.mit.edu	37	chr22	23956371	23956371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	catctttgtgtctcagtgagCatcttaaaaacaggctatct	7	9	4	1			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chr22:23956371C>G	ENST00000317749.5	-	9	869	c.572G>C	c.(571-573)tGc>tCc	p.C191S		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		191	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTCAGTGAGCATCTTAAAAA	0.453																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(571-573)tGc>tCc		chromosome 22 open reading frame 43							182	184	183					22																	23956371		2035	4189	6224	SO:0001583	missense	51233							g.chr22:23956371C>G																												ENST00000317749.5:c.572G>C	22.37:g.23956371C>G	ENSP00000316137:p.Cys191Ser		Somatic					p.C191S	NM_016449.3	NP_057533.2	WXS	Illumina GAIIx	Phase_I	Q6PGQ1	CV043_HUMAN			9	869	-			191			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	c.572G>C	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	c	4.522	0.096868	0.08681	.	.	ENSG00000189269	ENST00000317749	T	0.38077	1.16	1.03	-2.06	0.07298	.	.	.	.	.	T	0.15176	0.0366	N	0.22421	0.69	0.09310	N	1	P	0.34684	0.463	B	0.23574	0.047	T	0.16453	-1.0402	9	0.22109	T	0.4	.	2.4502	0.04516	0.0:0.422:0.3218:0.2562	.	191	Q6PGQ1	CV043_HUMAN	S	191	ENSP00000316137:C191S	ENSP00000316137:C191S	C	-	2	0	C22orf43	22286371	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.394000	0.07296	-0.570000	0.06022	0.386000	0.25728	TGC		0.453	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			19	51	19	51	---	---	---	---	G	23956371	C	G	23956371	3	3	306	1	0	0	0	0	1	0	0	0	2150	710	25	4	133	4	C22orf43	22	23956371	Missense_Mutation	SNP	C	TCGA-YJ-A8SW-01A-11D-A377-08		23956371	27348195	44	11225										
WAS	7454	broad.mit.edu	37	chrX	48547130	48547130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	tgtggggggtaacaagggtcGttctggtccactgccccctg	15	11	1	0			TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:48547130G>A	ENST00000376701.4	+	10	1088	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	338					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AACAAGGGTCGTTCTGGTCCA	0.692			"Mis, N, F, S"			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"Mis, N, F, S"	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28	GRCh37	CD962186	WAS	D		c.(1012-1014)cGt>cAt		Wiskott-Aldrich syndrome							10	10	10					X																	48547130		2175	4242	6417	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48547130G>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"eczema-thrombocytopenia"	300392	"thrombocytopenia 1 (X-linked)", "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.1013G>A	X.37:g.48547130G>A	ENSP00000365891:p.Arg338His		Somatic					p.R338H	NM_000377.2	NP_000368.1	WXS	Illumina GAIIx	Phase_I	P42768	WASP_HUMAN			10	1088	+		all_lung(315;1.27e-10)	338					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1013G>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777563	0.70107	.	.	ENSG00000015285	ENST00000376701	D	0.99748	-6.62	4.39	3.44	0.39384	Wiscott-Aldrich syndrome, C-terminal (1);	0.306403	0.28504	N	0.015112	D	0.99105	0.9692	M	0.72353	2.195	0.39556	D	0.969046	D	0.65815	0.995	P	0.51016	0.656	D	0.98784	1.0733	10	0.62326	D	0.03	-7.8544	4.94	0.13960	0.1223:0.2155:0.6622:0.0	.	338	P42768	WASP_HUMAN	H	338	ENSP00000365891:R338H	ENSP00000365891:R338H	R	+	2	0	WAS	48432074	0.996000	0.38824	0.997000	0.53966	0.994000	0.84299	2.626000	0.46460	1.901000	0.55032	0.525000	0.51046	CGT		0.692	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		8	0	8	0	---	---	---	---	A	48547130	G	A	48547130	3	1	306	1	0	0	0	0	1	0	0	0	17248	1145	40	2	1051	2	WAS	23	48547130	Missense_Mutation	SNP	G	TCGA-YJ-A8SW-01A-11D-A377-08		48547130	106723430	45	11226										
RLIM	51132	broad.mit.edu	37	chrX	73811565	73811565	+	Frame_Shift_Del	DEL	G	G	-													0.108695652173913	5	0.968713181754189	1.806640625	2.06473214285714	1.66766826923077	1	1	0	gaaaaactgagccaggctaaGgaagggcaaagagccacttt							TCGA-YJ-A8SW-01A-11D-A377-08	TCGA-YJ-A8SW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3030247-7910-4915-95bc-2409d9976413	80c2ed07-50fd-43ca-98d2-af4ed0fa6c87	g.chrX:73811565delG	ENST00000332687.6	-	4	1803	c.1585delC	c.(1585-1587)cttfs	p.L529fs	RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	529					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						GCCAGGCTAAGGAAGGGCAAA	0.478																																					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.(1585-1587)cttfs		ring finger protein, LIM domain interacting							49	40	43					X																	73811565		2203	4300	6503	SO:0001589	frameshift_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:73811565delG	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.1585delC	X.37:g.73811565delG	ENSP00000328059:p.Leu529fs		Somatic				RLIM_ENST00000349225.2_Frame_Shift_Del_p.L529fs	p.L529fs	NM_016120.3	NP_057204.2	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	1803	-			529					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Del	DEL	ENST00000332687.6	37	c.1585delC	CCDS14427.1																																																																																				0.478	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		19	1	19	1	---	---	---	---	-	73811565	G	-	73811565	7	5	306	1	0	1	0	1	0	0	0	0	13390	1000	35	0	293	0	RLIM	23	73811565	Frame_Shift_Del	DEL	G	TCGA-YJ-A8SW-01A-11D-A377-08	25264435	73811565	81458995	46	11227										
PMF1	11243	broad.mit.edu	37	chr1	156203419	156203419	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctttcctcctttctcttcagGaggaaatctctgacatcaaa	5	12	4	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr1:156203419G>T	ENST00000368273.4	+	3	284	c.274G>T	c.(274-276)Gag>Tag	p.E92*	PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1_ENST00000368277.3_Splice_Site_p.E90*|PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTCTCTTCAGGAGGAAATCTC	0.443																																					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.(268-270)Gag>Tag		polyamine-modulated factor 1							133	142	139					1																	156203419		2203	4300	6503	SO:0001630	splice_region_variant	11243							g.chr1:156203419G>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.274-1G>T	1.37:g.156203419G>T			Somatic				PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368273.4_Splice_Site_p.E92*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90*	p.E90*	NM_007221.3	NP_009152.2	WXS	Illumina GAIIx	Phase_I					3	277	+	Hepatocellular(266;0.158)								Splice_Site	SNP	ENST00000368273.4	37	c.268G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927608	0.52759	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	.	.	.	5.11	5.11	0.69529	.	0.130010	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.0405	14.0219	0.64560	0.0:0.0:1.0:0.0	.	.	.	.	X	90;92;90;90;90	.	.	E	+	1	0	PMF1	154470043	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	5.794000	0.69067	2.400000	0.81607	0.484000	0.47621	GAG		0.443	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	Nonsense_Mutation	4	110	4	110	---	---	---	---	T	156203419	G	T	156203419	5	4	307	1	0	0	0	0	0	0	1	0	12133	1188	41	3	278	3	PMF1	1	156203419	Splice_Site	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		156203419	93047202	1	11228										
CD96	10225	broad.mit.edu	37	chr3	111263902	111263902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttcttttcaggagtttgggAaaaaacagtcaacacagaag	9	6	3	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:111263902A>G	ENST00000283285.5	+	2	202	c.71A>G	c.(70-72)gAa>gGa	p.E24G	CD96_ENST00000438817.2_Missense_Mutation_p.E24G|CD96_ENST00000352690.4_Missense_Mutation_p.E24G	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	24					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						GGAGTTTGGGAAAAAACAGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(70-72)gAa>gGa		CD96 molecule							107	106	106					3																	111263902		2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263902A>G	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.71A>G	3.37:g.111263902A>G	ENSP00000283285:p.Glu24Gly		Somatic				CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G	p.E24G	NM_005816.4	NP_005807.1	WXS	Illumina GAIIx	Phase_I	P40200	TACT_HUMAN			2	311	+			24					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.71A>G	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	7.007	0.555991	0.13436	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.65549	-0.15;-0.16;-0.16	5.21	-1.35	0.09114	.	0.521728	0.19082	N	0.123220	T	0.39572	0.1083	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.16630	-1.0396	10	0.39692	T	0.17	-2.5289	10.1409	0.42734	0.5706:0.0:0.4294:0.0	.	24;24;24;24	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	G	24	ENSP00000342040:E24G;ENSP00000283285:E24G;ENSP00000389801:E24G	ENSP00000283285:E24G	E	+	2	0	CD96	112746592	0.882000	0.30256	0.037000	0.18230	0.000000	0.00434	0.327000	0.19663	-0.554000	0.06150	-1.937000	0.00501	GAA		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			6	51	6	51	---	---	---	---	G	111263902	A	G	111263902	3	3	307	1	0	0	0	0	1	0	0	0	3048	246	9	2	77	2	CD96	3	111263902	Missense_Mutation	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08		111263902	86758528	2	11229										
CD200R1L	344807	broad.mit.edu	37	chr3	112546090	112546090	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggttcacttcgggtgtaacTgcagagaggaaagagggaaa	15	5	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr3:112546090T>C	ENST00000398214.1	-	4	656		c.e4-2		CD200R1L_ENST00000488794.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like							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						CGGGTGTAACTGCAGAGAGGA	0.428																																						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.e6-2		CD200 receptor 1-like							47	47	47					3																	112546090		2196	4298	6494	SO:0001630	splice_region_variant	344807					integral to membrane	receptor activity	g.chr3:112546090T>C	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.431-2A>G	3.37:g.112546090T>C			Somatic				CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6Q8B3	MO2R2_HUMAN			6	957	-								Q6WHB7	Splice_Site	SNP	ENST00000398214.1	37		CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589508	0.28357	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1697	0.42902	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD200R1L	114028780	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	4.093000	0.57714	1.955000	0.56771	0.533000	0.62120	.		0.428	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	Intron	10	53	10	53	---	---	---	---	C	112546090	T	C	112546090	5	2	307	1	0	0	0	0	0	0	1	0	2982	1594	55	2	398	2	CD200R1L	3	112546090	Splice_Site	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	1282188	112546090	85476340	3	11230										
KDM3B	51780	broad.mit.edu	37	chr5	137763721	137763721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acttagatgtgtctgatgctGttaatgtgatggtgtatgtt	12	3	1	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:137763721G>A	ENST00000314358.5	+	20	4899	c.4699G>A	c.(4699-4701)Gtt>Att	p.V1567I	KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I|KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1567	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						GTCTGATGCTGTTAATGTGAT	0.433																																						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.(4699-4701)Gtt>Att		lysine (K)-specific demethylase 3B							350	326	334					5																	137763721		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.chr5:137763721G>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.4699G>A	5.37:g.137763721G>A	ENSP00000326563:p.Val1567Ile		Somatic				KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I	p.V1567I	NM_016604.3	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			20	4899	+			1567			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4699G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256245	0.95336	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.69561	-0.41;-0.41;-0.41	5.81	5.81	0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.67953	2.075	0.80722	D	1	P;P	0.37997	0.518;0.614	B;B	0.43360	0.303;0.417	T	0.71882	-0.4458	10	0.45353	T	0.12	-15.5711	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1223;1567	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	I	1567;1357;1223;599	ENSP00000326563:V1567I;ENSP00000378335:V1223I;ENSP00000439462:V599I	ENSP00000326563:V1567I	V	+	1	0	KDM3B	137791620	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.615000	0.98356	2.741000	0.93983	0.655000	0.94253	GTT		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		26	117	26	117	---	---	---	---	A	137763721	G	A	137763721	3	1	307	1	0	0	0	0	1	0	0	0	8127	1377	48	2	4777	2	KDM3B	5	137763721	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08		137763721	43151539	4	11231										
DDX41	51428	broad.mit.edu	37	chr5	176942200	176942200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cactcacatggtggggatgcCctggatctgaatgggtgttg	15	8	2	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr5:176942200C>T	ENST00000507955.1	-	7	1154	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	211					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)			GTGGGGATGCCCTGGATCTGA	0.527																																						ENST00000507955.1																			0											c.(631-633)Ggc>Agc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							265	224	238					5																	176942200		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.chr5:176942200C>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.631G>A	5.37:g.176942200C>T	ENSP00000422753:p.Gly211Ser		Somatic				DDX41_ENST00000506965.1_5'UTR	p.G211S	NM_016222.2	NP_057306.2	WXS	Illumina GAIIx	Phase_I	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		7	1154	-	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)	211					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.631G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090732	0.94149	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.39787	1.06;1.06	5.53	4.67	0.58626	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056843	0.64402	N	0.000001	T	0.45478	0.1344	N	0.10945	0.07	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.56038	-0.8045	10	0.87932	D	0	-36.9553	14.3169	0.66457	0.0:0.9287:0.0:0.0713	.	211	Q9UJV9	DDX41_HUMAN	S	229;211	ENSP00000330349:G229S;ENSP00000422753:G211S	ENSP00000330349:G229S	G	-	1	0	DDX41	176874806	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.528000	0.81941	1.340000	0.45581	0.563000	0.77884	GGC		0.527	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	72	7	72	---	---	---	---	T	176942200	C	T	176942200	3	4	307	1	0	0	0	0	1	0	0	0	4361	623	22	2	1281	2	DDX41	5	176942200	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	39178479	176942200	3973060	5	11232										
SMPD2	6610	broad.mit.edu	37	chr6	109763184	109763184	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcttggctttcagcggaatcAttggcagtggcctctgtgtc	13	10	3	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:109763184A>T	ENST00000258052.3	+	4	591	c.232A>T	c.(232-234)Att>Ttt	p.I78F	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	78					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGCGGAATCATTGGCAGTGG	0.502																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(232-234)Att>Ttt		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							241	244	243					6																	109763184		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763184A>T	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.232A>T	6.37:g.109763184A>T	ENSP00000258052:p.Ile78Phe		Somatic					p.I78F	NM_003080.2	NP_003071.2	WXS	Illumina GAIIx	Phase_I	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	4	591	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	78					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.232A>T	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407380	0.42715	.	.	ENSG00000135587	ENST00000258052	T	0.29917	1.55	5.22	4.01	0.46588	Endonuclease/exonuclease/phosphatase (2);	0.097154	0.64402	N	0.000002	T	0.06280	0.0162	N	0.20685	0.6	0.50171	D	0.999853	B	0.17667	0.023	B	0.23419	0.046	T	0.17107	-1.0380	10	0.07644	T	0.81	-0.5466	8.2718	0.31849	0.8088:0.0:0.0:0.1912	.	78	O60906	NSMA_HUMAN	F	78	ENSP00000258052:I78F	ENSP00000258052:I78F	I	+	1	0	SMPD2	109869877	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.827000	0.48112	0.933000	0.37291	0.533000	0.62120	ATT		0.502	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			28	156	28	156	---	---	---	---	T	109763184	A	T	109763184	3	4	307	1	0	0	0	0	1	0	0	0	14805	217	8	5	246	5	SMPD2	6	109763184	Missense_Mutation	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08		109763184	61351883	6	11233										
UTRN	7402	broad.mit.edu	37	chr6	145157448	145157448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtattagaaatctacaggTggagtatgagcagctgaagg	13	5	1	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr6:145157448T>C	ENST00000367545.3	+	70	9836	c.9836T>C	c.(9835-9837)gTg>gCg	p.V3279A	UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3279					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)		AATCTACAGGTGGAGTATGAG	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.(9835-9837)gTg>gCg		utrophin							125	135	132					6																	145157448		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.chr6:145157448T>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.9836T>C	6.37:g.145157448T>C	ENSP00000356515:p.Val3279Ala		Somatic				UTRN_ENST00000367526.4_Missense_Mutation_p.V834A	p.V3279A	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9836	+		Ovarian(120;0.218)	3279					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9836T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	3.303	-0.142412	0.06669	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.81078	-1.45;-1.45	5.91	2.03	0.26663	.	0.300780	0.24530	N	0.037726	T	0.15349	0.0370	N	0.00260	-1.75	0.25646	N	0.986146	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.02654	T	1	.	6.4913	0.22117	0.1161:0.1289:0.0:0.755	.	3279	P46939	UTRO_HUMAN	A	3279;834	ENSP00000356515:V3279A;ENSP00000356496:V834A	ENSP00000356496:V834A	V	+	2	0	UTRN	145199141	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.233000	0.43027	0.490000	0.27771	0.533000	0.62120	GTG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			26	117	26	117	---	---	---	---	C	145157448	T	C	145157448	3	2	307	1	0	0	0	0	1	0	0	0	17100	1696	59	2	10114	2	UTRN	6	145157448	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	35394264	145157448	25957619	7	11234										
NR4A3	8013	broad.mit.edu	37	chr9	102590779	102590779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccggccttccccccgcaggCgggggcgttatgggacgagg	18	14	0	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr9:102590779C>T	ENST00000395097.2	+	3	1184	c.455C>T	c.(454-456)gCg>gTg	p.A152V	NR4A3_ENST00000330847.1_Missense_Mutation_p.A163V|NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	152					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)				CCCCCGCAGGCGGGGGCGTTA	0.741			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.(487-489)gCg>gTg		nuclear receptor subfamily 4, group A, member 3							18	23	21					9																	102590779		2146	4211	6357	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590779C>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.455C>T	9.37:g.102590779C>T	ENSP00000378531:p.Ala152Val		Somatic				NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V	p.A163V			WXS	Illumina GAIIx	Phase_I	Q92570	NR4A3_HUMAN			2	532	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	152					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.488C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491934	0.44352	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91068	-2.77;-2.34;-2.78	5.21	2.99	0.34606	.	1.667310	0.02875	N	0.132179	T	0.82199	0.4985	N	0.08118	0	0.22001	N	0.999428	B;B;B	0.26975	0.021;0.102;0.165	B;B;B	0.18871	0.016;0.017;0.023	T	0.66956	-0.5792	10	0.16896	T	0.51	.	13.7261	0.62759	0.4096:0.5904:0.0:0.0	.	163;152;152	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	V	152;152;163	ENSP00000378531:A152V;ENSP00000340301:A152V;ENSP00000333122:A163V	ENSP00000333122:A163V	A	+	2	0	NR4A3	101630600	0.954000	0.32549	0.955000	0.39395	0.959000	0.62525	1.909000	0.39917	1.267000	0.44247	0.557000	0.71058	GCG		0.741	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			4	28	4	28	---	---	---	---	T	102590779	C	T	102590779	3	4	307	1	0	0	0	0	1	0	0	0	10634	768	27	2	494	2	NR4A3	9	102590779	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		102590779	38622652	8	11235										
XPOT	11260	broad.mit.edu	37	chr12	64825398	64825398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttatctggactgtttacagaCattcttgccagccctcagtt	7	11	3	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr12:64825398C>A	ENST00000332707.5	+	18	2586	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	686	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGTTTACAGACATTCTTGCCA	0.413																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2056-2058)aCa>aAa		exportin, tRNA							101	91	95					12																	64825398		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64825398C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2057C>A	12.37:g.64825398C>A	ENSP00000327821:p.Thr686Lys		Somatic					p.T686K	NM_007235.4	NP_009166.2	WXS	Illumina GAIIx	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	18	2586	+			686			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2057C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891179	0.52014	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67698	1.02;-0.28	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.207799	0.49305	D	0.000147	T	0.53142	0.1778	L	0.29908	0.895	0.58432	D	0.999995	B	0.31519	0.327	B	0.18871	0.023	T	0.50980	-0.8763	9	.	.	.	.	18.7765	0.91913	0.0:1.0:0.0:0.0	.	686	O43592	XPOT_HUMAN	K	686;208	ENSP00000327821:T686K;ENSP00000444345:T208K	.	T	+	2	0	XPOT	63111665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.644000	0.61397	2.539000	0.85634	0.549000	0.68633	ACA		0.413	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	51	4	51	---	---	---	---	A	64825398	C	A	64825398	3	1	307	1	0	0	0	0	1	0	0	0	17447	478	17	3	2123	3	XPOT	12	64825398	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		64825398	69026497	9	11236										
AHNAK2	113146	broad.mit.edu	37	chr14	105419126	105419126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcctggacctccaggtcagCggaagggggctgaatgctga	16	10	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr14:105419126C>T	ENST00000333244.5	-	7	2781	c.2662G>A	c.(2662-2664)Gct>Act	p.A888T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	888						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)			TCCAGGTCAGCGGAAGGGGGC	0.647																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2662-2664)Gct>Act		AHNAK nucleoprotein 2							116	134	128					14																	105419126		1886	4105	5991	SO:0001583	missense	113146					nucleus		g.chr14:105419126C>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.2662G>A	14.37:g.105419126C>T	ENSP00000353114:p.Ala888Thr		Somatic				AHNAK2_ENST00000557457.1_Intron	p.A888T	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	2781	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	888					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2662G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.311	1.055575	0.19907	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	4.16	0.138	0.14793	.	.	.	.	.	T	0.01124	0.0037	M	0.69248	2.105	0.09310	N	1	P	0.50272	0.933	B	0.39152	0.292	T	0.46020	-0.9221	9	0.10111	T	0.7	-5.9297	8.0052	0.30321	0.0:0.6507:0.0:0.3493	.	888	Q8IVF2	AHNK2_HUMAN	T	888	ENSP00000353114:A888T	ENSP00000353114:A888T	A	-	1	0	AHNAK2	104490171	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.332000	0.08489	-1.386000	0.01163	GCT		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	165	11	165	---	---	---	---	T	105419126	C	T	105419126	3	4	307	1	0	0	0	0	1	0	0	0	415	768	27	2	14729	2	AHNAK2	14	105419126	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		105419126	1930414	10	11237										
HYDIN	54768	broad.mit.edu	37	chr16	70843713	70843713	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tagtattctgtcctctgccgTgtgtaattgatgaacttcac	8	9	3	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr16:70843713T>A	ENST00000393567.2	-	85	15006	c.14856A>T	c.(14854-14856)acA>acT	p.T4952T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4952					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)				TCCTCTGCCGTGTGTAATTGA	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.(14854-14856)acA>acT		HYDIN, axonemal central pair apparatus protein							187	188	188					16																	70843713		1956	4147	6103	SO:0001819	synonymous_variant	54768							g.chr16:70843713T>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.14856A>T	16.37:g.70843713T>A			Somatic					p.T4952T	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			85	15006	-		Ovarian(137;0.0654)	4952					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14856A>T	CCDS59269.1																																																																																				0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	89	9	89	---	---	---	---	A	70843713	T	A	70843713	2	1	307	1	0	0	0	0	0	0	0	1	7467	1683	59	5		5	HYDIN	16	70843713	Silent	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08		70843713	19511040	11	11238										
SUPT6H	6830	broad.mit.edu	37	chr17	27011735	27011735	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcctcggcattgctttctcCtctgccaggtaacagcctat	8	14	2	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr17:27011735C>A	ENST00000314616.6	+	18	2644	c.2361C>A	c.(2359-2361)tcC>tcA	p.S787S	SUPT6H_ENST00000347486.4_Silent_p.S787S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	787	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				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)					TTGCTTTCTCCTCTGCCAGGT	0.468																																						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.(2359-2361)tcC>tcA		suppressor of Ty 6 homolog (S. cerevisiae)							147	134	138					17																	27011735		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:27011735C>A	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.2361C>A	17.37:g.27011735C>A			Somatic				SUPT6H_ENST00000347486.4_Silent_p.S787S	p.S787S	NM_003170.3	NP_003161.2	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			18	2644	+	Lung NSC(42;0.00431)		787					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2361C>A	CCDS32596.1																																																																																				0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	36	3	36	---	---	---	---	A	27011735	C	A	27011735	2	1	307	1	0	0	0	0	0	0	0	1	15397	668	24	1		1	SUPT6H	17	27011735	Silent	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		27011735	54183475	12	11239										
GMIP	51291	broad.mit.edu	37	chr19	19745500	19745500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtagaggtggaaggggatcaCgggctcggtgagctgggggt	22	5	1	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:19745500C>T	ENST00000203556.4	-	18	2037	c.1900G>A	c.(1900-1902)Gtg>Atg	p.V634M	GMIP_ENST00000587238.1_Missense_Mutation_p.V608M|GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	634	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						AAGGGGATCACGGGCTCGGTG	0.667																																						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.(1900-1902)Gtg>Atg		GEM interacting protein							121	123	123					19																	19745500		2203	4300	6503	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.chr19:19745500C>T	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.1900G>A	19.37:g.19745500C>T	ENSP00000203556:p.Val634Met		Somatic				GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M	p.V634M	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			18	2037	-			634			Rho-GAP.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.1900G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735493	0.49045	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.48201	0.82;0.82	4.85	2.24	0.28232	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.236110	0.22606	N	0.057883	T	0.65933	0.2739	M	0.87180	2.865	0.37434	D	0.914141	D;D;D	0.62365	0.991;0.986;0.991	P;D;P	0.63283	0.837;0.913;0.837	T	0.72903	-0.4151	10	0.87932	D	0	-13.0058	8.6041	0.33762	0.0:0.7357:0.1618:0.1025	.	605;608;634	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	634;605	ENSP00000203556:V634M;ENSP00000397075:V605M	ENSP00000203556:V634M	V	-	1	0	GMIP	19606500	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.408000	0.07169	1.003000	0.39130	0.561000	0.74099	GTG		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		21	119	21	119	---	---	---	---	T	19745500	C	T	19745500	3	4	307	1	0	0	0	0	1	0	0	0	6491	536	19	2	1028	2	GMIP	19	19745500	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08		19745500	39383483	13	11240										
TSHZ3	57616	broad.mit.edu	37	chr19	31767790	31767790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agaagacggggtggccagtgTccaagtttttgaggaacttt	14	6	0	3			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:31767790T>C	ENST00000240587.4	-	2	3236	c.2909A>G	c.(2908-2910)gAc>gGc	p.D970G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	970					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)					GTGGCCAGTGTCCAAGTTTTT	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2908-2910)gAc>gGc		teashirt zinc finger homeobox 3							66	62	64					19																	31767790		2203	4300	6503	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.chr19:31767790T>C	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.2909A>G	19.37:g.31767790T>C	ENSP00000240587:p.Asp970Gly		Somatic					p.D970G	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	3236	-	Esophageal squamous(110;0.226)		970					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2909A>G	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163653	0.78226	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.32561	-0.9902	10	0.72032	D	0.01	-38.0373	16.216	0.82217	0.0:0.0:0.0:1.0	.	970	Q63HK5	TSH3_HUMAN	G	970	ENSP00000240587:D970G	ENSP00000240587:D970G	D	-	2	0	TSHZ3	36459630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.671000	0.83941	2.228000	0.72767	0.482000	0.46254	GAC		0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		5	43	5	43	---	---	---	---	C	31767790	T	C	31767790	3	2	307	1	0	0	0	0	1	0	0	0	16622	1667	58	2	340	2	TSHZ3	19	31767790	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08	12022290	31767790	27361193	14	11241										
ZNF587	84914	broad.mit.edu	37	chr19	58371137	58371137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acaggaagtatcatcttctgGttcatgagagagttcacact	9	8	5	2			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chr19:58371137G>T	ENST00000339656.5	+	3	1539	c.1357G>T	c.(1357-1359)Gtt>Ttt	p.V453F	ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|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	453					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)		TCATCTTCTGGTTCATGAGAG	0.433																																					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.(1357-1359)Gtt>Ttt		zinc finger protein 587							126	154	145					19																	58371137		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58371137G>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.1357G>T	19.37:g.58371137G>T	ENSP00000345479:p.Val453Phe		Somatic				ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	p.V453F	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	WXS	Illumina GAIIx	Phase_I	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1539	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1357G>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428076	0.25726	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.07567	3.18;3.18;3.18	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05686	0.0149	L	0.33093	0.98	0.25920	N	0.983122	P;B	0.34562	0.457;0.356	B;B	0.34991	0.193;0.111	T	0.20273	-1.0280	8	0.54805	T	0.06	.	3.9824	0.09501	0.3567:0.3637:0.2796:0.0	.	452;453	G3V0H5;Q96SQ5	.;ZN587_HUMAN	F	410;452;453;453;410	ENSP00000393865:V452F;ENSP00000345479:V453F;ENSP00000406999:V410F	ENSP00000345479:V453F	V	+	1	0	ZNF587	63062949	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	-4.861000	0.00177	-1.731000	0.01360	0.195000	0.17529	GTT		0.433	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		11	72	11	72	---	---	---	---	T	58371137	G	T	58371137	3	4	307	1	0	0	0	0	1	0	0	0	18017	1261	44	3	1367	3	ZNF587	19	58371137	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	26603347	58371137	757846	15	11242										
CXorf59	286464	broad.mit.edu	37	chrX	36103579	36103579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctggaattaattcaagtcaaTctttacctgtagataaccat	5	8	3	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:36103579T>C	ENST00000313548.4	+	5	751	c.565T>C	c.(565-567)Tct>Cct	p.S189P		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	189						integral component of membrane (GO:0016021)											TTCAAGTCAATCTTTACCTGT	0.368																																						ENST00000313548.4																			0											c.(565-567)Tct>Cct		calponin homology domain containing 2							84	78	80					X																	36103579		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36103579T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.565T>C	X.37:g.36103579T>C	ENSP00000324767:p.Ser189Pro		Somatic					p.S189P	NM_173695.2	NP_775966.1	WXS	Illumina GAIIx	Phase_I					5	751	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.565T>C	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	6.445	0.450220	0.12223	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.9	4.62	0.57501	.	0.103386	0.39146	N	0.001444	T	0.23370	0.0565	N	0.12182	0.205	0.22171	N	0.999319	B	0.22276	0.067	B	0.16289	0.015	T	0.11397	-1.0589	9	0.29301	T	0.29	-21.3174	10.3313	0.43825	0.1602:0.0:0.0:0.8398	.	189	Q8N9S7	CX059_HUMAN	P	189	.	ENSP00000324767:S189P	S	+	1	0	CXorf59	36013500	1.000000	0.71417	0.866000	0.34008	0.046000	0.14306	2.635000	0.46537	1.974000	0.57490	0.486000	0.48141	TCT		0.368	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		9	19	9	19	---	---	---	---	C	36103579	T	C	36103579	3	2	307	1	0	0	0	0	1	0	0	0	4115	1435	50	2	579	2	CXorf59	23	36103579	Missense_Mutation	SNP	T	TCGA-YL-A8HJ-01A-11D-A364-08		36103579	119166981	16	11243										
BRWD3	254065	broad.mit.edu	37	chrX	79984395	79984395	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcttgtcttctccagatggCaaattattgctaaacaaaac	5	9	3	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:79984395C>A	ENST00000373275.4	-	14	1458	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	414					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						CTCCAGATGGCAAATTATTGC	0.338																																						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.(1240-1242)ttG>ttT		bromodomain and WD repeat domain containing 3							92	78	83					X																	79984395		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79984395C>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.1242G>T	X.37:g.79984395C>A	ENSP00000362372:p.Leu414Phe		Somatic					p.L414F	NM_153252.4	NP_694984	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			14	1458	-			414					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1242G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105837	0.20632	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.4	2.61	0.31194	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	1.055530	0.07388	N	0.888554	T	0.43144	0.1234	L	0.46157	1.445	0.20074	N	0.999932	B	0.19935	0.04	B	0.15870	0.014	T	0.29671	-1.0004	9	.	.	.	-2.3199	5.3834	0.16204	0.1513:0.5981:0.0:0.2506	.	414	Q6RI45	BRWD3_HUMAN	F	414	ENSP00000362372:L414F	.	L	-	3	2	BRWD3	79871051	0.908000	0.30866	1.000000	0.80357	0.788000	0.44548	0.178000	0.16820	0.984000	0.38629	0.422000	0.28245	TTG		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	42	11	42	---	---	---	---	A	79984395	C	A	79984395	3	1	307	1	0	0	0	0	1	0	0	0	1526	709	25	3	4278	3	BRWD3	23	79984395	Missense_Mutation	SNP	C	TCGA-YL-A8HJ-01A-11D-A364-08	43880816	79984395	75286165	17	11244										
ACTRT1	139741	broad.mit.edu	37	chrX	127185975	127185975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccacgctcaatggggtagtGcaaatgtagggcctcatact	11	10	2	0			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:127185975G>T	ENST00000371124.3	-	1	407	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	71						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						ATGGGGTAGTGCAAATGTAGG	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.(211-213)Cac>Aac		actin-related protein T1							151	139	143					X																	127185975		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185975G>T	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.211C>A	X.37:g.127185975G>T	ENSP00000360165:p.His71Asn		Somatic					p.H71N	NM_138289.3	NP_612146.1	WXS	Illumina GAIIx	Phase_I	Q8TDG2	ACTT1_HUMAN			1	407	-			71					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.211C>A	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093547	0.08632	.	.	ENSG00000123165	ENST00000371124	D	0.94092	-3.35	3.76	3.76	0.43208	.	0.761606	0.12113	N	0.498360	D	0.84960	0.5588	N	0.11064	0.09	0.25398	N	0.98847	B	0.16166	0.016	B	0.14578	0.011	T	0.76699	-0.2863	10	0.87932	D	0	.	7.8247	0.29307	0.0:0.0:0.753:0.247	.	71	Q8TDG2	ACTT1_HUMAN	N	71	ENSP00000360165:H71N	ENSP00000360165:H71N	H	-	1	0	ACTRT1	127013656	0.997000	0.39634	0.034000	0.17996	0.083000	0.17756	2.507000	0.45442	2.133000	0.65898	0.544000	0.68410	CAC		0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		6	60	6	60	---	---	---	---	T	127185975	G	T	127185975	3	4	307	1	0	0	0	0	1	0	0	0	218	1319	46	3	923	3	ACTRT1	23	127185975	Missense_Mutation	SNP	G	TCGA-YL-A8HJ-01A-11D-A364-08	47201580	127185975	28084585	18	11245										
MAGEA6	4105	broad.mit.edu	37	chrX	151870216	151870216	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggacctcgcatttcctacccActcctgcatgagtgggcttt	9	14	0	1			TCGA-YL-A8HJ-01A-11D-A364-08	TCGA-YL-A8HJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	381043c4-b863-489e-9b3d-6c3551c2c4b1	998f424a-c098-4c2c-b258-03f0e4c0ea1d	g.chrX:151870216A>T	ENST00000329342.5	+	3	1131	c.906A>T	c.(904-906)ccA>ccT	p.P302P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	302	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)					TTTCCTACCCACTCCTGCATG	0.567																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(904-906)ccA>ccT		melanoma antigen family A, 6							123	120	121					X																	151870216		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870216A>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.906A>T	X.37:g.151870216A>T			Somatic					p.P302P	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			3	1131	+	Acute lymphoblastic leukemia(192;6.56e-05)		302			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.906A>T	CCDS14708.1																																																																																				0.567	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	50	22	50	---	---	---	---	T	151870216	A	T	151870216	2	4	307	1	0	0	0	0	0	0	0	1	9170	146	6	5		5	MAGEA6	23	151870216	Silent	SNP	A	TCGA-YL-A8HJ-01A-11D-A364-08	24684241	151870216	3400344	19	11246										
FLG	2312	broad.mit.edu	37	chr1	152280684	152280684	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccctgatgattgtccctgGcccaccagtgagtgtctaga	12	12	1	4	rs386635457		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr1:152280684G>C	ENST00000368799.1	-	3	6713	c.6678C>G	c.(6676-6678)ggC>ggG	p.G2226G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2226	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)			ATTGTCCCTGGCCCACCAGTG	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.(6676-6678)ggC>ggG		filaggrin							242	240	240					1																	152280684		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.chr1:152280684G>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.6678C>G	1.37:g.152280684G>C			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2226G	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2226			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6678C>G	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		24	121	24	121	---	---	---	---	C	152280684	G	C	152280684	2	2	308	1	0	0	0	0	0	0	0	1	5922	1190	42	4		4	FLG	1	152280684	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		152280684	96969937	1	11247										
CCRL2	9034	broad.mit.edu	37	chr3	46450522	46450522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgccgctgtttccatctgCgtagtaacaccccacttcaa	6	15	3	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:46450522C>T	ENST00000399036.3	+	2	1304	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C|CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	318					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTTCCATCTGCGTAGTAACAC	0.512																																						ENST00000399036.3																			0				lung(3)|ovary(1)|urinary_tract(1)	5						c.(952-954)Cgt>Tgt		chemokine (C-C motif) receptor-like 2							148	153	151					3																	46450522		2134	4240	6374	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46450522C>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.952C>T	3.37:g.46450522C>T	ENSP00000381994:p.Arg318Cys		Somatic				CCRL2_ENST00000357392.4_Missense_Mutation_p.R330C|CCRL2_ENST00000400882.2_Missense_Mutation_p.R318C|CCRL2_ENST00000400880.3_Missense_Mutation_p.R318C	p.R318C	NM_003965.4	NP_003956.2	WXS	Illumina GAIIx	Phase_I	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	1304	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.952C>T	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956104	0.18507	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000400882	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.12	-10.2	0.00374	.	18.041800	0.00899	U	0.002339	T	0.12008	0.0292	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13229	-1.0517	10	0.22109	T	0.4	.	4.4747	0.11729	0.3124:0.4529:0.091:0.1437	.	330;318	O00421-2;O00421	.;CCRL2_HUMAN	C	318;330;318;318	ENSP00000381994:R318C;ENSP00000349967:R330C;ENSP00000383677:R318C;ENSP00000383678:R318C	ENSP00000349967:R330C	R	+	1	0	CCRL2	46425526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.356000	0.02609	-2.311000	0.00649	-1.269000	0.01422	CGT		0.512	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			25	77	25	77	---	---	---	---	T	46450522	C	T	46450522	3	4	308	1	0	0	0	0	1	0	0	0	2950	768	27	2	994	2	CCRL2	3	46450522	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		46450522	151571908	2	11248										
SEMA3F	6405	broad.mit.edu	37	chr3	50225399	50225399	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	tagcccagctgctggcccagCcagaagtgggcctcatccac							TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:50225399delC	ENST00000002829.3	+	19	2693	c.2209delC	c.(2209-2211)ccafs	p.P737fs	SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	737					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)		GCTGGCCCAGCCAGAAGTGGG	0.697																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(2209-2211)ccafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							8	10	9					3																	50225399		2170	4243	6413	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225399delC	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.2209delC	3.37:g.50225399delC	ENSP00000002829:p.Pro737fs		Somatic				SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P638fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P706fs	p.P737fs	NM_004186.3	NP_004177.3	WXS	Illumina GAIIx	Phase_I	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2693	+			737					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.2209delC	CCDS2811.1																																																																																				0.697	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4	2	4	---	---	---	---	-	50225399	C	-	50225399	7	5	308	1	0	1	0	1	0	0	0	0	14029	739	26	0	2279	0	SEMA3F	3	50225399	Frame_Shift_Del	DEL	C	TCGA-YL-A8HK-01A-11D-A364-08	3774877	50225399	147797031	3	11249										
DPPA2	151871	broad.mit.edu	37	chr3	109031399	109031399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtcctcatacctggattGtatttcttaggcttctccag	7	12	3	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr3:109031399G>A	ENST00000478945.1	-	3	420	c.174C>T	c.(172-174)taC>taT	p.Y58Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	58					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						TACCTGGATTGTATTTCTTAG	0.413																																						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.(172-174)taC>taT		developmental pluripotency associated 2							183	167	173					3																	109031399		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109031399G>A	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.174C>T	3.37:g.109031399G>A			Somatic					p.Y58Y	NM_138815.3	NP_620170.3	WXS	Illumina GAIIx	Phase_I	Q7Z7J5	DPPA2_HUMAN			3	420	-			58					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.174C>T	CCDS2956.1																																																																																				0.413	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		12	78	12	78	---	---	---	---	A	109031399	G	A	109031399	2	1	308	1	0	0	0	0	0	0	0	1	4734	1372	48	2		2	DPPA2	3	109031399	Silent	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	58806000	109031399	88991031	4	11250										
FER	2241	broad.mit.edu	37	chr5	108382846	108382846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccaatattgtcaaacttaTaggagtttgcacacaaagac	6	9	1	1			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr5:108382846T>C	ENST00000281092.4	+	16	2255	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	FER_ENST00000438717.2_Missense_Mutation_p.I449T	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	624	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCAAACTTATAGGAGTTTGC	0.313																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1870-1872)aTa>aCa		fer (fps/fes related) tyrosine kinase							114	108	110					5																	108382846		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108382846T>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1871T>C	5.37:g.108382846T>C	ENSP00000281092:p.Ile624Thr		Somatic				FER_ENST00000438717.2_Missense_Mutation_p.I449T	p.I624T	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	16	2255	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	624			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1871T>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141011	0.77775	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.36340	1.26;1.26	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.039246	0.85682	D	0.000000	T	0.65739	0.2720	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.72972	-0.4129	10	0.87932	D	0	-23.5949	15.5911	0.76530	0.0:0.0:0.0:1.0	.	624	P16591	FER_HUMAN	T	624;449	ENSP00000281092:I624T;ENSP00000394297:I449T	ENSP00000281092:I624T	I	+	2	0	FER	108410745	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.417000	0.80156	2.145000	0.66743	0.454000	0.30748	ATA		0.313	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		5	43	5	43	---	---	---	---	C	108382846	T	C	108382846	3	2	308	1	0	0	0	0	1	0	0	0	5813	1406	49	2	1925	2	FER	5	108382846	Missense_Mutation	SNP	T	TCGA-YL-A8HK-01A-11D-A364-08		108382846	72532414	5	11251										
PPP1R16A	84988	broad.mit.edu	37	chr8	145726591	145726591	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaggaggccatcgtgtggCaacagccgccgcccaccagc	12	18	0	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr8:145726591C>T	ENST00000292539.4	+	10	2034	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	373						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)			CATCGTGTGGCAACAGCCGCC	0.716																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1117-1119)Caa>Taa		protein phosphatase 1, regulatory subunit 16A							19	21	20					8																	145726591		2180	4277	6457	SO:0001587	stop_gained	84988					plasma membrane	protein binding	g.chr8:145726591C>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.1117C>T	8.37:g.145726591C>T	ENSP00000292539:p.Gln373*		Somatic				PPP1R16A_ENST00000435887.1_Nonsense_Mutation_p.Q373*	p.Q373*			WXS	Illumina GAIIx	Phase_I	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	2034	+	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)		373					D3DWM5	Nonsense_Mutation	SNP	ENST00000292539.4	37	c.1117C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943132	0.92526	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	.	.	.	4.72	3.78	0.43462	.	0.247880	0.36303	N	0.002677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.3091	0.49353	0.183:0.817:0.0:0.0	.	.	.	.	X	373	.	ENSP00000292539:Q373X	Q	+	1	0	PPP1R16A	145697399	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.766000	0.55280	2.153000	0.67306	0.462000	0.41574	CAA		0.716	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		3	10	3	10	---	---	---	---	T	145726591	C	T	145726591	4	4	308	1	0	0	0	0	0	1	0	0	12365	711	25	2	1151	2	PPP1R16A	8	145726591	Nonsense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08		145726591	637431	6	11252										
FANCF	2188	broad.mit.edu	37	chr11	22647295	22647295	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcccaggtgctgacgtagGtagtgcttgagaccgccaga	15	10	0	3			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:22647295G>C	ENST00000327470.3	-	1	92	c.62C>G	c.(61-63)aCc>aGc	p.T21S	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	21					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTGACGTAGGTAGTGCTTGA	0.637			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"N, F"	"Fanconi anemia, complementation group F"			L		"AML, leukemia"			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(61-63)aCc>aGc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							45	47	46					11																	22647295		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647295G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.62C>G	11.37:g.22647295G>C	ENSP00000330875:p.Thr21Ser		Somatic				AC103801.2_ENST00000428556.2_3'UTR	p.T21S	NM_022725.3	NP_073562.1	WXS	Illumina GAIIx	Phase_I	Q9NPI8	FANCF_HUMAN			1	92	-			21					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.62C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.257039	0.01457	.	.	ENSG00000183161	ENST00000327470	T	0.30981	1.51	5.39	0.924	0.19418	.	1.035320	0.07670	N	0.935373	T	0.19005	0.0456	N	0.15975	0.35	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.27938	-1.0059	10	0.20519	T	0.43	-0.8619	12.0326	0.53406	0.0:0.3999:0.4876:0.1125	.	21	Q9NPI8	FANCF_HUMAN	S	21	ENSP00000330875:T21S	ENSP00000330875:T21S	T	-	2	0	FANCF	22603871	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.616000	0.24344	0.327000	0.23409	0.655000	0.94253	ACC		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		8	15	8	15	---	---	---	---	C	22647295	G	C	22647295	3	2	308	1	0	0	0	0	1	0	0	0	5667	1261	44	4	1066	4	FANCF	11	22647295	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		22647295	112359221	7	11253										
PAMR1	25891	broad.mit.edu	37	chr11	35456159	35456159	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgatcatggtgaccttcccCaggtcagtaacacagtgggc	11	11	2	2			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:35456159C>G	ENST00000378880.2	-	10	1972	c.1527G>C	c.(1525-1527)ctG>ctC	p.L509L	PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	509	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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						TGACCTTCCCCAGGTCAGTAA	0.557																																						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.(1525-1527)ctG>ctC		peptidase domain containing associated with muscle regeneration 1							111	98	102					11																	35456159		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35456159C>G		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.1527G>C	11.37:g.35456159C>G			Somatic				PAMR1_ENST00000378878.3_Silent_p.L398L|PAMR1_ENST00000278360.3_Silent_p.L526L|PAMR1_ENST00000532848.1_Silent_p.L469L	p.L509L	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			10	1972	-			509			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1527G>C	CCDS31460.1																																																																																				0.557	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		15	48	15	48	---	---	---	---	G	35456159	C	G	35456159	2	3	308	1	0	0	0	0	0	0	0	1	11413	581	21	4		4	PAMR1	11	35456159	Silent	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	12808864	35456159	99550357	8	11254										
FAM181B	220382	broad.mit.edu	37	chr11	82443541	82443541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cgccccttcccaaaccccgtCggatctccaaaggctggaat	8	17	1	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr11:82443541C>T	ENST00000329203.3	-	1	1365	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	411										large_intestine(1)|lung(2)|prostate(1)	4						CAAACCCCGTCGGATCTCCAA	0.692																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1231-1233)Gac>Aac		family with sequence similarity 181, member B							11	14	13					11																	82443541		2169	4253	6422	SO:0001583	missense	220382							g.chr11:82443541C>T	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.1231G>A	11.37:g.82443541C>T	ENSP00000365295:p.Asp411Asn		Somatic					p.D411N	NM_175885.3	NP_787081.2	WXS	Illumina GAIIx	Phase_I	A6NEQ2	F181B_HUMAN			1	1365	-			411					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.1231G>A	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099700	0.76983	.	.	ENSG00000182103	ENST00000329203	T	0.39056	1.1	4.87	3.91	0.45181	.	.	.	.	.	T	0.45498	0.1345	N	0.24115	0.695	0.21861	N	0.999503	D	0.76494	0.999	P	0.62649	0.905	T	0.22347	-1.0219	8	.	.	.	.	11.7272	0.51716	0.1753:0.8247:0.0:0.0	.	411	A6NEQ2	F181B_HUMAN	N	411	ENSP00000365295:D411N	.	D	-	1	0	FAM181B	82121189	0.643000	0.27269	0.839000	0.33178	0.961000	0.63080	1.075000	0.30716	2.522000	0.85027	0.655000	0.94253	GAC		0.692	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		3	14	3	14	---	---	---	---	T	82443541	C	T	82443541	3	4	308	1	0	0	0	0	1	0	0	0	5509	884	31	2	53	2	FAM181B	11	82443541	Missense_Mutation	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	46987382	82443541	52562975	9	11255										
SLC2A13	114134	broad.mit.edu	37	chr12	40158559	40158559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggtgcaaagaagacaagaTataaaataaggcccagaagt	10	6	0	4			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:40158559T>C	ENST00000280871.4	-	8	1597	c.1547A>G	c.(1546-1548)tAt>tGt	p.Y516C		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	516					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)				GAAGACAAGATATAAAATAAG	0.333										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.(1546-1548)tAt>tGt		solute carrier family 2 (facilitated glucose transporter), member 13							111	124	120					12																	40158559		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40158559T>C	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.1547A>G	12.37:g.40158559T>C	ENSP00000280871:p.Tyr516Cys	HNSCC(50;0.14)	Somatic					p.Y516C	NM_052885.3	NP_443117.3	WXS	Illumina GAIIx	Phase_I	Q96QE2	MYCT_HUMAN			8	1597	-		Lung NSC(34;0.105)|all_lung(34;0.123)	516					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1547A>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017176	0.75161	.	.	ENSG00000151229	ENST00000280871	T	0.77229	-1.08	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.93150	3.385	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.93176	0.6570	10	0.87932	D	0	-11.6769	15.4273	0.75061	0.0:0.0:0.0:1.0	.	516	Q96QE2	MYCT_HUMAN	C	516	ENSP00000280871:Y516C	ENSP00000280871:Y516C	Y	-	2	0	SLC2A13	38444826	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	5.696000	0.68287	2.049000	0.60858	0.528000	0.53228	TAT		0.333	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			7	38	7	38	---	---	---	---	C	40158559	T	C	40158559	3	2	308	1	0	0	0	0	1	0	0	0	14542	1406	49	2	411	2	SLC2A13	12	40158559	Missense_Mutation	SNP	T	TCGA-YL-A8HK-01A-11D-A364-08		40158559	93693336	10	11256										
LRP1	4035	broad.mit.edu	37	chr12	57593708	57593708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggctgcagcaacctgtGcctgctgtcccccgggggag	16	13	0	0			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:57593708G>A	ENST00000243077.3	+	62	10380	c.9914G>A	c.(9913-9915)tGc>tAc	p.C3305Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3305	EGF-like 13. {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)	AGCAACCTGTGCCTGCTGTCC	0.587																																						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.(9913-9915)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						80	77	78					12																	57593708		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.chr12:57593708G>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.9914G>A	12.37:g.57593708G>A	ENSP00000243077:p.Cys3305Tyr		Somatic					p.C3305Y	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	62	10380	+			3305			EGF-like 13.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9914G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400426	0.62177	.	.	ENSG00000123384	ENST00000243077	D	0.99966	-10.09	4.37	4.37	0.52481	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.99984	0.9995	H	0.99712	4.72	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.99406	1.0929	10	0.72032	D	0.01	.	15.8872	0.79261	0.0:0.0:1.0:0.0	.	3305	Q07954	LRP1_HUMAN	Y	3305	ENSP00000243077:C3305Y	ENSP00000243077:C3305Y	C	+	2	0	LRP1	55879975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	2.272000	0.75746	0.456000	0.33151	TGC		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	48	9	48	---	---	---	---	A	57593708	G	A	57593708	3	1	308	1	0	0	0	0	1	0	0	0	8951	1319	46	2	10160	2	LRP1	12	57593708	Missense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08	17435149	57593708	76258187	11	11257										
GAS2L3	283431	broad.mit.edu	37	chr12	101018420	101018420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtctcctggccgtaccccaCtgtccatcgtgagcctaccc	8	18	1	1			TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr12:101018420C>T	ENST00000539410.1	+	9	2223	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	GAS2L3_ENST00000547754.1_Silent_p.L613L|GAS2L3_ENST00000266754.5_Silent_p.L613L|GAS2L3_ENST00000537247.1_Silent_p.L509L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	613					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGTACCCCACTGTCCATCGT	0.488																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1525-1527)Ctg>Ttg		growth arrest-specific 2 like 3							99	88	92					12																	101018420		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101018420C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1837C>T	12.37:g.101018420C>T			Somatic				GAS2L3_ENST00000539410.1_Silent_p.L613L|GAS2L3_ENST00000547754.1_Silent_p.L613L|GAS2L3_ENST00000266754.5_Silent_p.L613L	p.L509L			WXS	Illumina GAIIx	Phase_I	Q86XJ1	GA2L3_HUMAN			10	2479	+			613					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1525C>T	CCDS9079.1																																																																																				0.488	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		10	35	10	35	---	---	---	---	T	101018420	C	T	101018420	2	4	308	1	0	0	0	0	0	0	0	1	6248	564	20	2		2	GAS2L3	12	101018420	Silent	SNP	C	TCGA-YL-A8HK-01A-11D-A364-08	43424712	101018420	32833475	12	11258										
ALPK3	57538	broad.mit.edu	37	chr15	85402608	85402608	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggatcagcgcccagtgggcGaggtgggcaggaggtaagcc	19	9	1	0	rs142686791		TCGA-YL-A8HK-01A-11D-A364-08	TCGA-YL-A8HK-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61396ff0-5975-4cf6-9142-ce0349096ebc	002a3041-247d-4cf6-b81a-a4e04857e872	g.chr15:85402608G>T	ENST00000258888.5	+	7	4725	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1520	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)			CCCAGTGGGCGAGGTGGGCAG	0.552																																						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.(4558-4560)Gag>Tag		alpha-kinase 3							65	56	59					15																	85402608		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85402608G>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.4558G>T	15.37:g.85402608G>T	ENSP00000258888:p.Glu1520*		Somatic					p.E1520*	NM_020778.4	NP_065829.3	WXS	Illumina GAIIx	Phase_I	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	4725	+			1520			Ig-like 2.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.4558G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	45	11.739213	0.99597	.	.	ENSG00000136383	ENST00000258888	.	.	.	5.65	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-32.2291	9.244	0.37513	0.1651:0.0:0.8349:0.0	.	.	.	.	X	1520	.	ENSP00000258888:E1520X	E	+	1	0	ALPK3	83203612	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.050000	0.64251	2.664000	0.90586	0.655000	0.94253	GAG		0.552	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	34	8	34	---	---	---	---	T	85402608	G	T	85402608	4	4	308	1	0	0	0	0	0	1	0	0	546	1059	37	3	4584	3	ALPK3	15	85402608	Nonsense_Mutation	SNP	G	TCGA-YL-A8HK-01A-11D-A364-08		85402608	17128784	13	11259										
HP1BP3	50809	broad.mit.edu	37	chr1	21083722	21083722	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcccctctctactgctctCtgcagagcgttcttcaacag	8	15	4	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:21083722C>A	ENST00000312239.5	-	9	1057	c.918G>T	c.(916-918)caG>caT	p.Q306H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Q154H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	306	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			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)		CTACTGCTCTCTGCAGAGCGT	0.418																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(460-462)caG>caT		heterochromatin protein 1, binding protein 3							76	74	75					1																	21083722		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21083722C>A	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.918G>T	1.37:g.21083722C>A	ENSP00000312625:p.Gln306His		Somatic				HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H	p.Q154H			WXS	Illumina GAIIx	Phase_I	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)	5	1962	-		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)	306					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.462G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334969	0.41398	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.23348	1.96;1.96;1.96;1.96;1.91	5.87	4.01	0.46588	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.219820	0.47455	D	0.000228	T	0.21468	0.0517	L	0.33485	1.01	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.18871	0.012;0.023	T	0.03212	-1.1060	10	0.72032	D	0.01	-2.6577	12.6304	0.56655	0.0:0.8656:0.0:0.1344	.	268;306	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	306;268;154;165;306;268	ENSP00000312625:Q306H;ENSP00000364142:Q154H;ENSP00000391721:Q165H;ENSP00000403039:Q306H;ENSP00000402754:Q268H	ENSP00000312625:Q306H	Q	-	3	2	HP1BP3	20956309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.800000	0.47900	0.831000	0.34780	0.585000	0.79938	CAG		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		3	72	3	72	---	---	---	---	A	21083722	C	A	21083722	3	1	309	1	0	0	0	0	1	0	0	0	7328	912	32	3	763	3	HP1BP3	1	21083722	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		21083722	228166899	1	11260										
BCAR3	8412	broad.mit.edu	37	chr1	94032967	94032967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatgtcggttccttcaaaaGtcacagcctggcgctccatt	8	13	2	0			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:94032967G>A	ENST00000370244.1	-	13	2456	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I|BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	723	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		TCCTTCAAAAGTCACAGCCTG	0.502																																						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.(2167-2169)aCt>aTt		breast cancer anti-estrogen resistance 3							142	128	133					1																	94032967		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032967G>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.2168C>T	1.37:g.94032967G>A	ENSP00000359264:p.Thr723Ile		Somatic				BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	p.T723I	NM_001261408.1	NP_001248337.1	WXS	Illumina GAIIx	Phase_I	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	13	2456	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	723			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2168C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943706	0.34283	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.85	3.01	0.34805	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.441828	0.27266	N	0.020152	T	0.05868	0.0153	N	0.17674	0.51	0.28398	N	0.918778	B;B	0.23854	0.092;0.015	B;B	0.20955	0.032;0.016	T	0.38329	-0.9666	10	0.21540	T	0.41	-24.1593	7.5338	0.27697	0.4417:0.0:0.5583:0.0	.	723;632	O75815;Q5TEW3	BCAR3_HUMAN;.	I	632;723;723;723;399	ENSP00000359267:T632I;ENSP00000260502:T723I;ENSP00000359264:T723I;ENSP00000359263:T723I;ENSP00000441343:T399I	ENSP00000260502:T723I	T	-	2	0	BCAR3	93805555	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.340000	0.43974	0.406000	0.25560	-0.122000	0.15005	ACT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	22	27	22	---	---	---	---	A	94032967	G	A	94032967	3	1	309	1	0	0	0	0	1	0	0	0	1349	1029	36	2	317	2	BCAR3	1	94032967	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	72949245	94032967	155217654	2	11261										
CACNA1D	776	broad.mit.edu	37	chr3	53785827	53785827	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcccttgcggagatacatcCccaaaaacccctaccagtac	6	16	0	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:53785827C>G	ENST00000350061.5	+	28	4079	c.3568C>G	c.(3568-3570)Ccc>Gcc	p.P1190A	CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1210A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1190					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)	GAGATACATCCCCAAAAACCC	0.502																																						ENST00000288139.4																			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.(3628-3630)Ccc>Gcc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						236	202	213					3																	53785827		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.chr3:53785827C>G	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.3568C>G	3.37:g.53785827C>G	ENSP00000288133:p.Pro1190Ala		Somatic				CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	p.P1210A	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	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	3746	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3628C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067819	0.93950	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97906	-4.39;-4.44;-4.42;-4.4;-4.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96080	3.765	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	0.97110	0.983;1.0;0.996;0.987;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1190;97;883;1190;1210	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	A	1190;1210;1190;883;97	ENSP00000288133:P1190A;ENSP00000288139:P1210A;ENSP00000409174:P1190A;ENSP00000418014:P883A;ENSP00000438229:P97A	ENSP00000288139:P1210A	P	+	1	0	CACNA1D	53760867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.804000	0.96469	0.655000	0.94253	CCC		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	137	5	137	---	---	---	---	G	53785827	C	G	53785827	3	3	309	1	0	0	0	0	1	0	0	0	2541	623	22	4	3850	4	CACNA1D	3	53785827	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		53785827	144236603	3	11262										
INSIG1	3638	broad.mit.edu	37	chr7	155094516	155094516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cccttgtatatttttctcagGaggcgtcacggtggggaaca	12	9	2	0			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr7:155094516G>A	ENST00000340368.4	+	5	975	c.764G>A	c.(763-765)gGa>gAa	p.G255E	INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	255					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	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)		TTTTTCTCAGGAGGCGTCACG	0.408																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(763-765)gGa>gAa		insulin induced gene 1							186	180	182					7																	155094516		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094516G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.764G>A	7.37:g.155094516G>A	ENSP00000344741:p.Gly255Glu		Somatic				INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	p.G255E	NM_005542.4	NP_005533.2	WXS	Illumina GAIIx	Phase_I	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	975	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	255					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.764G>A	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.352321|5.352321	0.95830|0.95830	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000342407|ENST00000340368;ENST00000344756	T|T;T	0.48201|0.59083	0.82|0.35;0.29	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.102264	.|0.64402	.|D	.|0.000002	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	P|D;D	0.46395|0.89917	0.877|1.0;1.0	B|D;D	0.43360|0.97110	0.417|0.996;1.0	T|T	0.82307|0.82307	-0.0522|-0.0522	9|10	0.87932|0.87932	D|D	0|0	.|.	19.0723|19.0723	0.93145|0.93145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|103;255	A4D2N1|F5H6P3;O15503	.|.;INSI1_HUMAN	K|E	158|255;103	ENSP00000344035:E158K|ENSP00000344741:G255E;ENSP00000340010:G103E	ENSP00000344035:E158K|ENSP00000344741:G255E	E|G	+|+	1|2	0|0	INSIG1|INSIG1	154725451|154725451	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.983000|0.983000	0.72400|0.72400	9.451000|9.451000	0.97610|0.97610	2.579000|2.579000	0.87056|0.87056	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.408	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		6	96	6	96	---	---	---	---	A	155094516	G	A	155094516	3	1	309	1	0	0	0	0	1	0	0	0	7765	1175	41	2	778	2	INSIG1	7	155094516	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		155094516	4044147	4	11263										
RGS3	5998	broad.mit.edu	37	chr9	116356449	116356449	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagagcgtgtgtggctgcaGcctgcaccgttgctgcccgc	15	13	0	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr9:116356449G>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.A84S|RGS3_ENST00000350696.5_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						TGTGGCTGCAGCCTGCACCGT	0.677																																						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.(250-252)Gcc>Tcc		regulator of G-protein signaling 3							49	55	53					9																	116356449		2203	4298	6501	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.chr9:116356449G>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.3081-261G>T	9.37:g.116356449G>T			Somatic				RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron	p.A84S	NM_144489.2	NP_652760.2	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			1	684	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.250G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629434	0.46944	.	.	ENSG00000138835	ENST00000462403	T	0.60548	0.18	5.02	3.02	0.34903	.	.	.	.	.	T	0.34513	0.0900	N	0.08118	0	0.19575	N	0.999962	B	0.10296	0.003	B	0.06405	0.002	T	0.18398	-1.0338	9	0.40728	T	0.16	.	7.57	0.27902	0.0:0.183:0.6276:0.1894	.	84	Q5VZ06	.	S	84	ENSP00000436168:A84S	ENSP00000436168:A84S	A	+	1	0	RGS3	115396270	0.004000	0.15560	0.009000	0.14445	0.526000	0.34562	0.747000	0.26290	1.078000	0.41014	0.558000	0.71614	GCC		0.677	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		19	41	19	41	---	---	---	---	T	116356449	G	T	116356449	1	4	309	0	1	0	0	0	0	0	0	0	13306	971	34	3		3	RGS3	9	116356449	Intron	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		116356449	24856982	5	11264										
ZNF215	7762	broad.mit.edu	37	chr11	6977301	6977301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatgacttgagtttgagtAcagatattcgacaccaaaaa	9	6	0	4			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:6977301A>C	ENST00000278319.5	+	7	1681	c.1093A>C	c.(1093-1095)Aca>Cca	p.T365P	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	365					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)		GAGTTTGAGTACAGATATTCG	0.333																																						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.(1093-1095)Aca>Cca		zinc finger protein 215							60	60	60					11																	6977301		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977301A>C	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.1093A>C	11.37:g.6977301A>C	ENSP00000278319:p.Thr365Pro		Somatic				ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR	p.T365P	NM_013250.2	NP_037382.2	WXS	Illumina GAIIx	Phase_I	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1681	+			365					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1093A>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192454	0.38707	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.15603	2.41;2.41	4.55	-2.82	0.05787	.	0.692910	0.12597	N	0.455087	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.24048	-1.0171	10	0.72032	D	0.01	.	3.1456	0.06471	0.3431:0.0:0.19:0.4669	.	365	Q9UL58	ZN215_HUMAN	P	365	ENSP00000278319:T365P;ENSP00000393202:T365P	ENSP00000278319:T365P	T	+	1	0	ZNF215	6933877	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.147000	0.10234	-0.241000	0.09681	0.533000	0.62120	ACA		0.333	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			22	34	22	34	---	---	---	---	C	6977301	A	C	6977301	3	2	309	1	0	0	0	0	1	0	0	0	17768	391	14	5	1111	5	ZNF215	11	6977301	Missense_Mutation	SNP	A	TCGA-YL-A8HL-01A-11D-A364-08		6977301	128029215	6	11265										
CEP57	9702	broad.mit.edu	37	chr11	95561040	95561040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagctttgtgcaatgatcgaGtcatcaacagtattcctttg	8	8	2	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:95561040G>T	ENST00000325542.5	+	9	1214	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	CEP57_ENST00000541150.1_Missense_Mutation_p.V317F|CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	326	Mediates interaction with microtubules. {ECO:0000250}.				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)				CAATGATCGAGTCATCAACAG	0.443									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.(976-978)Gtc>Ttc		centrosomal protein 57kDa							170	158	162					11																	95561040		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.chr11:95561040G>T	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.976G>T	11.37:g.95561040G>T	ENSP00000317902:p.Val326Phe		Somatic				CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F	p.V326F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	WXS	Illumina GAIIx	Phase_I	Q86XR8	CEP57_HUMAN			9	1214	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.976G>T	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376613|3.376613	0.61735|0.61735	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000535224|ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150;ENST00000537093	.|T;T;T;T;T	.|0.52754	.|1.24;1.22;1.19;1.22;0.65	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.70605|0.70605	0.3243|0.3243	M|M	0.71581|0.71581	2.175|2.175	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;0.977;0.996	T|T	0.71692|0.71692	-0.4516|-0.4516	5|10	.|0.87932	.|D	.|0	-6.7638|-6.7638	20.1699|20.1699	0.98157|0.98157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;300;326	.|F5H5F7;Q86XR8-2;Q86XR8	.|.;.;CEP57_HUMAN	I|F	115|299;326;300;317;85	.|ENSP00000441392:V299F;ENSP00000317902:V326F;ENSP00000317487:V300F;ENSP00000443436:V317F;ENSP00000444749:V85F	.|ENSP00000317487:V300F	S|V	+|+	2|1	0|0	CEP57|CEP57	95200688|95200688	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.059000|0.059000	0.15707|0.15707	6.259000|6.259000	0.72494|0.72494	2.775000|2.775000	0.95449|0.95449	0.467000|0.467000	0.42956|0.42956	AGT|GTC		0.443	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		26	45	26	45	---	---	---	---	T	95561040	G	T	95561040	3	4	309	1	0	0	0	0	1	0	0	0	3256	1029	36	3	1010	3	CEP57	11	95561040	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	88583739	95561040	39445476	7	11266										
ITPR2	3709	broad.mit.edu	37	chr12	26780982	26780982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atacctgatggtagtaaagtGtctggagatccactggcaga	12	7	1	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:26780982G>A	ENST00000381340.3	-	23	3464	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1016					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)	GTAGTAAAGTGTCTGGAGATC	0.333																																						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.(3046-3048)gaC>gaT		inositol 1,4,5-trisphosphate receptor, type 2							239	229	232					12																	26780982		1854	4097	5951	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.chr12:26780982G>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.3048C>T	12.37:g.26780982G>A			Somatic				ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	p.D1016D	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			23	3464	-	Colorectal(261;0.0847)		1016					O94773	Silent	SNP	ENST00000381340.3	37	c.3048C>T	CCDS41764.1																																																																																				0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		81	102	81	102	---	---	---	---	A	26780982	G	A	26780982	2	1	309	1	0	0	0	0	0	0	0	1	7921	1368	48	2		2	ITPR2	12	26780982	Silent	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		26780982	107070913	8	11267										
ARMC5	79798	broad.mit.edu	37	chr16	31476480	31476480	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccaggatctgggctggtctGtgcttctttcctggctctgc	12	13	4	0			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:31476480G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000457010.2_Silent_p.L712L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCTGGTCTGTGCTTCTTTC	0.622																																						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.(2134-2136)ctG>ctT		armadillo repeat containing 5							48	54	52					16																	31476480		2154	4270	6424	SO:0001627	intron_variant	79798						binding	g.chr16:31476480G>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.1864+272G>T	16.37:g.31476480G>T			Somatic				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	p.L712L	NM_024742.2	NP_079018.1	WXS	Illumina GAIIx	Phase_I	Q96C12	ARMC5_HUMAN			4	2837	+			0					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2136G>T	CCDS45472.1																																																																																				0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		8	7	8	7	---	---	---	---	T	31476480	G	T	31476480	1	4	309	0	1	0	0	0	0	0	0	0	954	1364	48	3		3	ARMC5	16	31476480	Intron	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		31476480	58878273	9	11268										
CNGB1	1258	broad.mit.edu	37	chr16	57921842	57921842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggaggtgagcaagtttgcCgccttttgcccccttgccac	11	15	0	1	rs373477921		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:57921842C>T	ENST00000251102.8	-	32	3439	c.3379G>A	c.(3379-3381)Ggc>Agc	p.G1127S	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|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)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGTTTGCCGCCTTTTGCC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)Ggc>Agc		cyclic nucleotide gated channel beta 1		C	SER/GLY	0,3894		0,0,1947	93	98	97		3379	5.3	1	16		97	1,8277		0,1,4138	no	missense	CNGB1	NM_001297.4	56	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	1127/1252	57921842	1,12171	1947	4139	6086	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921842C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3379G>A	16.37:g.57921842C>T	ENSP00000251102:p.Gly1127Ser		Somatic				CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S	p.G1121S			WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			32	3421	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3361G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859370	0.51376	0.0	1.21E-4	ENSG00000070729	ENST00000251102	D	0.96830	-4.14	5.34	5.34	0.76211	.	0.169139	0.37053	N	0.002266	D	0.95297	0.8474	M	0.63428	1.95	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.50825	0.651;0.449	D	0.93224	0.6611	10	0.33940	T	0.23	.	7.1491	0.25599	0.1716:0.742:0.0:0.0864	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	S	1127	ENSP00000251102:G1127S	ENSP00000251102:G1127S	G	-	1	0	CNGB1	56479343	0.967000	0.33354	1.000000	0.80357	0.132000	0.20833	2.271000	0.43364	2.503000	0.84419	0.467000	0.42956	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		29	50	29	50	---	---	---	---	T	57921842	C	T	57921842	3	4	309	1	0	0	0	0	1	0	0	0	3600	652	23	2	384	2	CNGB1	16	57921842	Missense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08	26445362	57921842	32432911	10	11269										
TP53	7157	broad.mit.edu	37	chr17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgacctggagtcttccagtGtgatgatggtgaggatgggc	16	7	1	4			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:7577514G>A	ENST00000269305.4	-	7	956	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000420246.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T256I	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	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> 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.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(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)	GTCTTCCAGTGTGATGATGGT	0.592		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	Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)	ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)|kidney(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	CM951232	TP53	M		c.(766-768)aCa>aTa	Other conserved DNA damage response genes	tumor protein p53							144	103	117					17																	7577514		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.chr17:7577514G>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.767C>T	17.37:g.7577514G>A	ENSP00000269305:p.Thr256Ile	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)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I	p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	899	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	256		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.767C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135670	0.56828	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	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);	0.050722	0.85682	D	0.000000	D	0.99768	0.9905	M	0.86028	2.79	0.58432	D	0.999992	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	0.97397	0.9993	10	0.87932	D	0	-15.8677	10.9866	0.47526	0.0922:0.0:0.9078:0.0	.	256;256;256;256;256	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	I	256;256;256;256;256;256;245;124	ENSP00000410739:T256I;ENSP00000352610:T256I;ENSP00000269305:T256I;ENSP00000398846:T256I;ENSP00000391127:T256I;ENSP00000391478:T256I;ENSP00000425104:T124I	ENSP00000269305:T256I	T	-	2	0	TP53	7518239	1.000000	0.71417	0.923000	0.36655	0.398000	0.30690	9.601000	0.98297	1.305000	0.44909	0.462000	0.41574	ACA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	5	15	5	---	---	---	---	A	7577514	G	A	7577514	3	1	309	1	0	0	0	0	1	0	0	0	16378	1377	48	2	523	2	TP53	17	7577514	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		7577514	73617696	11	11270										
SCN4A	6329	broad.mit.edu	37	chr17	62049712	62049712	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccatcttgggcaggatatGcatggatgagcaccttgatg	12	9	1	2			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:62049712G>A	ENST00000435607.1	-	2	468	c.392C>T	c.(391-393)gCg>gTg	p.A131V	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site_p.A131V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	131					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)	GGCAGGATATGCATGGATGAG	0.617																																						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.(391-393)gCg>gTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						52	56	55					17																	62049712		2141	4250	6391	SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049712G>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.392+1C>T	17.37:g.62049712G>A			Somatic				SCN4A_ENST00000578147.1_Splice_Site_p.A131V	p.A131V	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			2	468	-			131					Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	ENST00000435607.1	37	c.392C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663311	0.47572	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	4.23	0.50019	.	4.299410	0.01381	U	0.012927	D	0.92538	0.7630	N	0.03608	-0.345	0.43043	D	0.994631	B	0.06786	0.001	B	0.12837	0.008	T	0.65183	-0.6230	9	.	.	.	.	15.7671	0.78135	0.0:0.0:1.0:0.0	.	131	P35499	SCN4A_HUMAN	V	131	ENSP00000396320:A131V	.	A	-	2	0	SCN4A	59403444	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	9.601000	0.98297	2.188000	0.69820	0.313000	0.20887	GCG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Missense_Mutation	10	8	10	8	---	---	---	---	A	62049712	G	A	62049712	5	1	309	1	0	0	0	0	0	0	1	0	13920	1333	46	2	5210	2	SCN4A	17	62049712	Splice_Site	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08	54472198	62049712	19145498	12	11271										
CDH20	28316	broad.mit.edu	37	chr18	59166542	59166542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgccattcagaggctcgacCgagaggaaagagcccagtat	12	11	1	3			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr18:59166542C>T	ENST00000262717.4	+	3	768	c.370C>T	c.(370-372)Cga>Tga	p.R124*	CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 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)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGCTCGACCGAGAGGAAAG	0.537																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(370-372)Cga>Tga		cadherin 20, type 2							61	50	54					18																	59166542		2203	4300	6503	SO:0001587	stop_gained	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166542C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.370C>T	18.37:g.59166542C>T	ENSP00000262717:p.Arg124*		Somatic				CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*	p.R124*			WXS	Illumina GAIIx	Phase_I	Q9HBT6	CAD20_HUMAN			3	768	+		Colorectal(73;0.186)	124			Cadherin 1.		Q495S3	Nonsense_Mutation	SNP	ENST00000262717.4	37	c.370C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	40	8.038425	0.98621	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	5.82	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0986	0.81148	0.542:0.458:0.0:0.0	.	.	.	.	X	124	.	ENSP00000262717:R124X	R	+	1	2	CDH20	57317522	1.000000	0.71417	0.751000	0.31187	0.928000	0.56348	2.353000	0.44089	0.323000	0.23307	0.650000	0.86243	CGA		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	13	12	13	---	---	---	---	T	59166542	C	T	59166542	4	4	309	1	0	0	0	0	0	1	0	0	3106	644	23	2	376	2	CDH20	18	59166542	Nonsense_Mutation	SNP	C	TCGA-YL-A8HL-01A-11D-A364-08		59166542	18910706	13	11272										
OR7D2	162998	broad.mit.edu	37	chr19	9296747	9296747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccatctcctacatggactGcctcacacaggtctatttct	6	14	4	0			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:9296747G>A	ENST00000344248.2	+	1	469	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	97					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						TACATGGACTGCCTCACACAG	0.517																																						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.(289-291)tGc>tAc		olfactory receptor, family 7, subfamily D, member 2							179	167	171					19																	9296747		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.chr19:9296747G>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.290G>A	19.37:g.9296747G>A	ENSP00000345563:p.Cys97Tyr		Somatic					p.C97Y	NM_175883.2	NP_787079.1	WXS	Illumina GAIIx	Phase_I	Q96RA2	OR7D2_HUMAN			1	469	+			97					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.290G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079205	0.36662	.	.	ENSG00000188000	ENST00000344248	T	0.17054	2.3	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000523	T	0.57888	0.2084	H	0.99347	4.525	0.44789	D	0.997796	D	0.89917	1.0	D	0.91635	0.999	T	0.75263	-0.3379	10	0.87932	D	0	.	11.9872	0.53155	0.0:0.0:1.0:0.0	.	97	Q96RA2	OR7D2_HUMAN	Y	97	ENSP00000345563:C97Y	ENSP00000345563:C97Y	C	+	2	0	OR7D2	9157747	1.000000	0.71417	0.873000	0.34254	0.026000	0.11368	8.089000	0.89525	1.583000	0.49898	0.511000	0.50034	TGC		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			6	90	6	90	---	---	---	---	A	9296747	G	A	9296747	3	1	309	1	0	0	0	0	1	0	0	0	11219	1319	46	2	292	2	OR7D2	19	9296747	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		9296747	49832236	14	11273										
FLRT3	23767	broad.mit.edu	37	chr20	14307317	14307317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattacttaggttattattgGacatatccagtcgatagagc	8	6	0	1			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:14307317G>T	ENST00000378053.3	-	2	1092	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	279					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)		GTTATTATTGGACATATCCAG	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)tCc>tAc		fibronectin leucine rich transmembrane protein 3							50	52	51					20																	14307317		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307317G>T	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.836C>A	20.37:g.14307317G>T	ENSP00000367292:p.Ser279Tyr		Somatic				MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000217246.4_Intron	p.S279Y	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1092	-		Colorectal(1;0.0464)	279					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.836C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345922	0.61073	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.63744	-0.06;-0.06	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83879	0.0278	10	0.72032	D	0.01	-8.6217	20.5211	0.99222	0.0:0.0:1.0:0.0	.	279	Q9NZU0	FLRT3_HUMAN	Y	279	ENSP00000367292:S279Y;ENSP00000339912:S279Y	ENSP00000339912:S279Y	S	-	2	0	FLRT3	14255317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		24	34	24	34	---	---	---	---	T	14307317	G	T	14307317	3	4	309	1	0	0	0	0	1	0	0	0	5940	1174	41	3	1117	3	FLRT3	20	14307317	Missense_Mutation	SNP	G	TCGA-YL-A8HL-01A-11D-A364-08		14307317	48718203	15	11274										
INPP5B	3633	broad.mit.edu	37	chr1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ttgcagaggaactggtgaatAaattcttgagccttcttctt	9	7	3	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373026.1	-	23	2952	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373023.2_Missense_Mutation_p.F984L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|RP11-109P14.10_ENST00000419993.1_RNA|MTF1_ENST00000373036.4_5'Flank			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)				ACTGGTGAATAAATTCTTGAG	0.458																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2950-2952)ttT>ttG		inositol polyphosphate-5-phosphatase, 75kDa							119	116	117					1																	38328017		1863	4096	5959	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.chr1:38328017A>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.2952T>G	1.37:g.38328017A>C	ENSP00000362117:p.Phe984Leu		Somatic				INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L	p.F984L	NM_005540.2	NP_005531.2	WXS	Illumina GAIIx	Phase_I	P32019	I5P2_HUMAN			24	3045	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	984			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2952T>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.333264	0.81801	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56056	-0.8042	10	0.59425	D	0.04	.	8.9778	0.35946	0.846:0.0:0.154:0.0	.	904	P32019-2	.	L	740;984;984;904	ENSP00000362118:F740L;ENSP00000362114:F984L;ENSP00000362117:F984L;ENSP00000362115:F904L	ENSP00000362114:F984L	F	-	3	2	INPP5B	38100604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.265000	0.75225	0.533000	0.62120	TTT		0.458	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		13	38	13	38	---	---	---	---	C	38328017	A	C	38328017	3	2	310	1	0	0	0	0	1	0	0	0	7755	359	13	5	33	5	INPP5B	1	38328017	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08		38328017	210922604	1	11275										
CAD	790	broad.mit.edu	37	chr2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	atccacactggtgagtccatAgtggtggcccctagccagac	11	13	0	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	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)					GTGAGTCCATAGTGGTGGCCC	0.567																																						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.(1894-1896)atA>atG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						88	86	87					2																	27449052		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.chr2:27449052A>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	ENST00000264705.4:c.1896A>G	2.37:g.27449052A>G	ENSP00000264705:p.Ile632Met		Somatic				CAD_ENST00000403525.1_Intron	p.I632M	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			13	2058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		632			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000264705.4	37	c.1896A>G	CCDS1742.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163743	0.78226	.	.	ENSG00000084774	ENST00000264705	D	0.98028	-4.67	5.51	-6.47	0.01902	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.045906	0.85682	D	0.000000	D	0.97993	0.9339	M	0.88377	2.95	0.80722	D	1	P	0.49783	0.928	P	0.55824	0.785	D	0.97047	0.9761	10	0.87932	D	0	0.652	16.3145	0.82913	0.1574:0.7483:0.0:0.0943	.	632	P27708	PYR1_HUMAN	M	632	ENSP00000264705:I632M	ENSP00000264705:I632M	I	+	3	3	CAD	27302556	0.000000	0.05858	0.960000	0.40013	0.989000	0.77384	-1.887000	0.01617	-0.957000	0.03627	0.454000	0.30748	ATA		0.567	CAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214186.2			18	29	18	29	---	---	---	---	G	27449052	A	G	27449052	3	3	310	1	0	0	0	0	1	0	0	0	2565	410	15	2	1946	2	CAD	2	27449052	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08		27449052	215750321	2	11276										
CD8B	926	broad.mit.edu	37	chr2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	cgacgatcatgcagaagtagAtgccactgtcttccggcttc	10	12	2	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	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						GCAGAAGTAGATGCCACTGTC	0.542																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(337-339)aTc>aGc		CD8b molecule							120	112	114					2																	87085245		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.chr2:87085245A>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.338T>G	2.37:g.87085245A>C	ENSP00000375070:p.Ile113Ser		Somatic				CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S	p.I113S	NM_004931.4	NP_004922.1	WXS	Illumina GAIIx	Phase_I	P10966	CD8B_HUMAN			2	396	-			113			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.338T>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	A	6.100	0.386806	0.11524	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.869934	0.10257	N	0.696449	T	0.54870	0.1885	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B;B	0.32573	0.376;0.245;0.245;0.228;0.274;0.307	B;B;B;B;B;B	0.31101	0.124;0.124;0.124;0.058;0.079;0.076	T	0.50466	-0.8825	10	0.87932	D	0	-3.495	7.062	0.25131	0.8942:0.0:0.1058:0.0	.	113;113;113;113;113;113	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	113	ENSP00000377358:I113S;ENSP00000377356:I113S;ENSP00000340592:I113S;ENSP00000331172:I113S;ENSP00000375070:I113S	ENSP00000331172:I113S	I	-	2	0	CD8B	86938756	0.004000	0.15560	0.647000	0.29507	0.050000	0.14768	-0.333000	0.07894	0.613000	0.30089	-0.388000	0.06559	ATC		0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		40	33	40	33	---	---	---	---	C	87085245	A	C	87085245	3	2	310	1	0	0	0	0	1	0	0	0	3045	333	12	5	588	5	CD8B	2	87085245	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	59636193	87085245	156114128	3	11277										
IL1F5	26525	broad.mit.edu	37	chr2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ctggcctctttcccacaggtGaagagatcagcgtggtcccc	11	14	2	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)Gaa>Caa		interleukin 36 receptor antagonist							42	41	42					2																	113819703		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113819703G>C	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"Interleukins and interleukin receptors"	15561	protein-coding gene	gene with protein product	"family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3"	605507	"interleukin 1 family, member 5 (delta)"	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.118G>C	2.37:g.113819703G>C	ENSP00000376896:p.Glu40Gln		Somatic				IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	p.E40Q	NM_012275.2	NP_036407.1	WXS	Illumina GAIIx	Phase_I	Q9UBH0	I36RA_HUMAN			4	279	+			40					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.118G>C	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860225	0.71834	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.78246	-1.16;-1.16;-1.16	5.36	5.36	0.76844	.	0.175673	0.49916	D	0.000126	D	0.85075	0.5614	L	0.59436	1.845	0.35816	D	0.824212	D	0.76494	0.999	D	0.68353	0.957	D	0.89324	0.3642	10	0.87932	D	0	-31.241	14.5869	0.68331	0.0:0.0:1.0:0.0	.	40	Q9UBH0	I36RA_HUMAN	Q	40	ENSP00000259212:E40Q;ENSP00000376896:E40Q;ENSP00000409262:E40Q	ENSP00000259212:E40Q	E	+	1	0	IL36RN	113536174	0.994000	0.37717	0.998000	0.56505	0.705000	0.40729	4.823000	0.62694	2.511000	0.84671	0.655000	0.94253	GAA		0.632	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		7	8	7	8	---	---	---	---	C	113819703	G	C	113819703	3	2	310	1	0	0	0	0	1	0	0	0	7653	1291	45	4	128	4	IL1F5	2	113819703	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	26734458	113819703	129379670	4	11278										
CCR2	729230	broad.mit.edu	37	chr3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ccttattttccacgaggatgGaataatttccacacaataat	5	9	0	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000400888.2	+	1	633	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000292301.4_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					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)		CACGAGGATGGAATAATTTCC	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(592-594)tgG>tgC		chemokine (C-C motif) receptor 2							254	245	248					3																	46399612		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.chr3:46399612G>C		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.594G>C	3.37:g.46399612G>C	ENSP00000383681:p.Trp198Cys		Somatic				CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.W198C	p.W198C	NM_001123041.2	NP_001116513.2	WXS	Illumina GAIIx	Phase_I	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1079	+			198					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.594G>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804318	0.50315	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.38722	1.12;1.12;1.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.80031	0.4549	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88722	0.3230	10	0.87932	D	0	.	18.7457	0.91792	0.0:0.0:1.0:0.0	.	198;198	P41597;Q4VBL2	CCR2_HUMAN;.	C	198	ENSP00000399285:W198C;ENSP00000292301:W198C;ENSP00000383681:W198C	ENSP00000292301:W198C	W	+	3	0	CCR2	46374616	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.059000	0.57470	2.511000	0.84671	0.650000	0.86243	TGG		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	178	5	178	---	---	---	---	C	46399612	G	C	46399612	3	2	310	1	0	0	0	0	1	0	0	0	2941	1183	41	4	596	4	CCR2	3	46399612	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		46399612	151622818	5	11279										
SNX4	8723	broad.mit.edu	37	chr3	125176113	125176113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	aaaaggaaaatactcaccccAgttaccagttcctcacactg	5	13	2	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					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						TACTCACCCCAGTTACCAGTT	0.473																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1039-1041)acT>acC		sorting nexin 4							172	140	151					3																	125176113		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125176113A>G	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.1041T>C	3.37:g.125176113A>G			Somatic				SNX4_ENST00000536067.1_Silent_p.T202T	p.T347T	NM_003794.2	NP_003785.1	WXS	Illumina GAIIx	Phase_I	O95219	SNX4_HUMAN			11	1065	-			347					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1041T>C	CCDS3032.1																																																																																				0.473	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		4	57	4	57	---	---	---	---	G	125176113	A	G	125176113	2	3	310	1	0	0	0	0	0	0	0	1	14904	175	7	2		2	SNX4	3	125176113	Silent	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	78776501	125176113	72846317	6	11280										
KIAA1211	57482	broad.mit.edu	37	chr4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ggctaagccccgccaggagtCtcccagcagcgcgtccgcac	12	18	1	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										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)					CGCCAGGAGTCTCCCAGCAGC	0.677																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1972-1974)tCt>tAt		KIAA1211							20	25	23					4																	57181641		1944	4117	6061	SO:0001583	missense	57482							g.chr4:57181641C>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.1973C>A	4.37:g.57181641C>A	ENSP00000423366:p.Ser658Tyr		Somatic				KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y	p.S658Y			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			6	2078	+	Glioma(25;0.08)|all_neural(26;0.101)		658					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1973C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476392	0.63737	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02301	4.35;4.35;4.35	4.48	3.62	0.41486	.	.	.	.	.	T	0.09818	0.0241	L	0.59436	1.845	0.19300	N	0.999973	D;D;P	0.76494	0.999;0.999;0.946	D;D;P	0.69479	0.964;0.964;0.77	T	0.05716	-1.0868	9	0.87932	D	0	-1.4726	14.3247	0.66512	0.0:0.8504:0.1496:0.0	.	651;651;658	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	658;658;651;568	ENSP00000264229:S658Y;ENSP00000423366:S658Y;ENSP00000444006:S651Y	ENSP00000264229:S658Y	S	+	2	0	KIAA1211	56876398	0.063000	0.20901	0.001000	0.08648	0.005000	0.04900	3.516000	0.53436	1.057000	0.40506	0.561000	0.74099	TCT		0.677	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	16	5	16	---	---	---	---	A	57181641	C	A	57181641	3	1	310	1	0	0	0	0	1	0	0	0	8215	913	32	3	1991	3	KIAA1211	4	57181641	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		57181641	133972635	7	11281										
HLA-DQA2	3118	broad.mit.edu	37	chr6	32714045	32714045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	attccagcccctatgtcagaGctcacagagactttggtctg	9	12	3	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				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)"	CTATGTCAGAGCTCACAGAGA	0.557																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(640-642)gaG>gaA		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						167	163	164					6																	32714045		1511	2709	4220	SO:0001819	synonymous_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.chr6:32714045G>A		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.642G>A	6.37:g.32714045G>A			Somatic					p.E214E	NM_020056.4	NP_064440.1	WXS	Illumina GAIIx	Phase_I	P01906	DQA2_HUMAN			4	744	+			214			Connecting peptide.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.642G>A	CCDS4753.1																																																																																				0.557	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		23	51	23	51	---	---	---	---	A	32714045	G	A	32714045	2	1	310	1	0	0	0	0	0	0	0	1	7205	962	34	2		2	HLA-DQA2	6	32714045	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		32714045	138401022	8	11282										
ETV1	2115	broad.mit.edu	37	chr7	13975392	13975392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	gatggagggaggtgagctggGaaggcccggtcaggtttcgg	21	6	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000430479.1	-	8	1162	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ETV1_ENST00000343495.5_Silent_p.F147F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405218.2_Silent_p.F165F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	165					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						GGTGAGCTGGGAAGGCCCGGT	0.552			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.(439-441)ttC>ttT		ets variant 1							206	213	211					7																	13975392		2121	4252	6373	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975392G>A		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.495C>T	7.37:g.13975392G>A			Somatic				ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000476720.2_5'UTR	p.F147F			WXS	Illumina GAIIx	Phase_I	P50549	ETV1_HUMAN			7	1179	-			165					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.441C>T	CCDS55088.1																																																																																				0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		84	70	84	70	---	---	---	---	A	13975392	G	A	13975392	2	1	310	1	0	0	0	0	0	0	0	1	5277	1165	41	2		2	ETV1	7	13975392	Silent	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		13975392	145163271	9	11283										
ESCO2	157570	broad.mit.edu	37	chr8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	tgggtgtttaattgcagaacCcatcaaacaggtatggtata	10	6	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					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)		ATTGCAGAACCCATCAAACAG	0.328									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.(1486-1488)cCc>cAc		establishment of sister chromatid cohesion N-acetyltransferase 2							45	46	46					8																	27650318		2203	4292	6495	SO:0001583	missense	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.chr8:27650318C>A	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.1487C>A	8.37:g.27650318C>A	ENSP00000306999:p.Pro496His		Somatic				ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	p.P496H	NM_001017420.2	NP_001017420.1	WXS	Illumina GAIIx	Phase_I	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)	9	1725	+		Ovarian(32;0.000953)	496					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1487C>A	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264657	0.59431	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72835	-0.14;-0.69	5.82	3.81	0.43845	.	0.513960	0.22200	N	0.063252	T	0.50086	0.1595	N	0.17312	0.475	0.42008	D	0.99092	P	0.35507	0.506	B	0.30782	0.12	T	0.53027	-0.8496	10	0.37606	T	0.19	-9.848	10.8377	0.46696	0.1432:0.7179:0.1389:0.0	.	496	Q56NI9	ESCO2_HUMAN	H	496;144	ENSP00000306999:P496H;ENSP00000380563:P144H	ENSP00000306999:P496H	P	+	2	0	ESCO2	27706237	0.868000	0.29978	1.000000	0.80357	0.995000	0.86356	0.766000	0.26560	2.755000	0.94549	0.591000	0.81541	CCC		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		14	8	14	8	---	---	---	---	A	27650318	C	A	27650318	3	1	310	1	0	0	0	0	1	0	0	0	5249	623	22	1	1517	1	ESCO2	8	27650318	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		27650318	118713704	10	11284										
PEX2	5828	broad.mit.edu	37	chr8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	aaatatgctcacatcctatgGtgtgaggcatggtgggccac	12	9	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					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						ACATCCTATGGTGTGAGGCAT	0.433																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(766-768)aCc>aTc		peroxisomal biogenesis factor 2							90	83	85					8																	77895648		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895648G>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.767C>T	8.37:g.77895648G>A	ENSP00000400984:p.Thr256Ile		Somatic				PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I	p.T256I	NM_001172087.1	NP_001165558.1	WXS	Illumina GAIIx	Phase_I	P28328	PEX2_HUMAN			4	1231	-			256					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.767C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294380	0.60086	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.160623	0.53938	D	0.000045	D	0.86276	0.5894	L	0.32530	0.975	0.50632	D	0.999888	P	0.49253	0.921	P	0.49829	0.623	D	0.84419	0.0570	10	0.31617	T	0.26	-18.92	19.2714	0.94011	0.0:0.0:1.0:0.0	.	256	P28328	PEX2_HUMAN	I	256	ENSP00000349543:T256I;ENSP00000400984:T256I;ENSP00000428590:T256I;ENSP00000428638:T256I	ENSP00000349543:T256I	T	-	2	0	PEX2	78058203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.792000	0.96026	0.557000	0.71058	ACC		0.433	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		17	92	17	92	---	---	---	---	A	77895648	G	A	77895648	3	1	310	1	0	0	0	0	1	0	0	0	11745	1261	44	2	154	2	PEX2	8	77895648	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	50245330	77895648	68468374	11	11285										
ZNF483	158399	broad.mit.edu	37	chr9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	gtggaaaatccttcagtcatAgctcatccctttccaaacat	5	12	3	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1687-1689)Agc>Tgc		zinc finger protein 483							61	67	65					9																	114304902		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304902A>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1687A>T	9.37:g.114304902A>T	ENSP00000311679:p.Ser563Cys		Somatic				ZNF483_ENST00000358151.4_Intron	p.S563C	NM_133464.2	NP_597721.2	WXS	Illumina GAIIx	Phase_I	Q8TF39	ZN483_HUMAN			6	1845	+			563					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1687A>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595105	0.46318	.	.	ENSG00000173258	ENST00000309235	T	0.33216	1.42	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000031	T	0.41581	0.1165	M	0.83223	2.63	0.24495	N	0.994287	D	0.63880	0.993	P	0.49922	0.626	T	0.42447	-0.9451	10	0.52906	T	0.07	-15.5217	6.7154	0.23300	0.79:0.0:0.0:0.2099	.	563	Q8TF39	ZN483_HUMAN	C	563	ENSP00000311679:S563C	ENSP00000311679:S563C	S	+	1	0	ZNF483	113344723	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.304000	0.19228	1.972000	0.57404	0.533000	0.62120	AGC		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		12	54	12	54	---	---	---	---	T	114304902	A	T	114304902	3	4	310	1	0	0	0	0	1	0	0	0	17933	420	15	5	1705	5	ZNF483	9	114304902	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08		114304902	26908529	12	11286										
AP3M1	26985	broad.mit.edu	37	chr10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ccattgtctaacatttcttcTaagagttcatatactatgac	4	9	4	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					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)					ACATTTCTTCTAAGAGTTCAT	0.358																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(337-339)ttA>ttC		adaptor-related protein complex 3, mu 1 subunit							134	125	128					10																	75896496		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896496T>G	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.339A>C	10.37:g.75896496T>G	ENSP00000347408:p.Leu113Phe		Somatic				AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	p.L113F	NM_012095.4	NP_036227.1	WXS	Illumina GAIIx	Phase_I	Q9Y2T2	AP3M1_HUMAN			3	650	-	Prostate(51;0.0112)		113					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.339A>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850911	0.71719	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.88509	-2.39;-2.39	5.74	0.438	0.16560	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	D	0.93851	0.8033	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90858	0.4736	10	0.66056	D	0.02	.	6.3593	0.21419	0.1087:0.5135:0.0:0.3778	.	113	Q9Y2T2	AP3M1_HUMAN	F	113	ENSP00000347408:L113F;ENSP00000361831:L113F	ENSP00000347408:L113F	L	-	3	2	AP3M1	75566502	0.983000	0.35010	0.994000	0.49952	0.977000	0.68977	0.211000	0.17474	-0.127000	0.11661	-1.144000	0.01866	TTA		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	29	10	29	---	---	---	---	G	75896496	T	G	75896496	3	3	310	1	0	0	0	0	1	0	0	0	747	1519	53	5	945	5	AP3M1	10	75896496	Missense_Mutation	SNP	T	TCGA-YL-A8HM-01A-11D-A364-08		75896496	59638251	13	11287										
C10orf96	374355	broad.mit.edu	37	chr10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	tgaagagaatgaatccatttGtactaccaaatatctagagg	8	6	1	4			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	194																	GAATCCATTTGTACTACCAAA	0.274																																						ENST00000333254.3																			0											c.(580-582)tGt>tTt		coiled-coil domain containing 172							47	50	49					10																	118117378		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117378G>T	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.581G>T	10.37:g.118117378G>T	ENSP00000329860:p.Cys194Phe		Somatic					p.C194F	NM_198515.2	NP_940917.1	WXS	Illumina GAIIx	Phase_I					7	832	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.581G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517979	0.04171	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.62	-0.968	0.10313	.	1.018280	0.07820	N	0.959647	T	0.31451	0.0797	L	0.57536	1.79	0.09310	N	1	B	0.30439	0.279	B	0.26693	0.072	T	0.26573	-1.0099	9	0.10111	T	0.7	-9.1956	6.1445	0.20278	0.4902:0.0:0.3863:0.1234	.	194	P0C7W6	CJ096_HUMAN	F	194	.	ENSP00000329860:C194F	C	+	2	0	C10orf96	118107368	0.061000	0.20836	0.992000	0.48379	0.969000	0.65631	-0.142000	0.10311	0.009000	0.14813	-0.140000	0.14226	TGT		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		3	22	3	22	---	---	---	---	T	118117378	G	T	118117378	3	4	310	1	0	0	0	0	1	0	0	0	1627	1377	48	3	603	3	C10orf96	10	118117378	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	42220882	118117378	17417369	14	11288										
KNDC1	85442	broad.mit.edu	37	chr10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	tggacttccctcggaacagcGggctgctggggaagctagag	16	10	0	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	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)		TCGGAACAGCGGGCTGCTGGG	0.667																																						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.(4018-4020)Ggg>Tgg		kinase non-catalytic C-lobe domain (KIND) containing 1							88	91	90					10																	135025035		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025035G>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.4018G>T	10.37:g.135025035G>T	ENSP00000304437:p.Gly1340Trp		Somatic				KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W	p.G1340W			WXS	Illumina GAIIx	Phase_I	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	4039	+		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)	1340			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4018G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404119	0.25291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50001	0.76;0.76	3.96	2.01	0.26516	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.803958	0.11184	U	0.590657	T	0.57110	0.2031	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42916	-0.9423	10	0.72032	D	0.01	-15.4731	8.8163	0.34998	0.2134:0.0:0.7866:0.0	.	1340	Q76NI1	VKIND_HUMAN	W	1340;1342	ENSP00000304437:G1340W;ENSP00000357561:G1342W	ENSP00000304437:G1340W	G	+	1	0	KNDC1	134875025	0.016000	0.18221	0.063000	0.19743	0.165000	0.22458	1.429000	0.34903	0.789000	0.33779	0.297000	0.19635	GGG		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		30	40	30	40	---	---	---	---	T	135025035	G	T	135025035	3	4	310	1	0	0	0	0	1	0	0	0	8426	1116	39	1	4104	1	KNDC1	10	135025035	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	16907657	135025035	509712	15	11289										
ZDHHC5	25921	broad.mit.edu	37	chr11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-													0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	caggctggcccagcaacgggAagctgagaggcacccacgtt							TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511					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						CAGCAACGGGAAGCTGAGAGG	0.602																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1531-1533)gaafs		zinc finger, DHHC-type containing 5							62	58	59					11																	57466440		2201	4296	6497	SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466440delA	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.1532delA	11.37:g.57466440delA	ENSP00000287169:p.Glu511fs		Somatic				ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	p.E511fs	NM_015457.2	NP_056272.2	WXS	Illumina GAIIx	Phase_I	Q9C0B5	ZDHC5_HUMAN			11	2894	+			511					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Del	DEL	ENST00000287169.3	37	c.1532delA	CCDS7965.1																																																																																				0.602	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	31	14	31	---	---	---	---	-	57466440	A	-	57466440	7	5	310	1	0	1	0	1	0	0	0	0	17615	246	9	0	1570	0	ZDHHC5	11	57466440	Frame_Shift_Del	DEL	A	TCGA-YL-A8HM-01A-11D-A364-08		57466440	77540076	16	11290										
PIWIL1	9271	broad.mit.edu	37	chr12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	attggtccaaagaaacaagaGgtgcaccattaattagtgtt	9	6	0	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					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)		AGAAACAAGAGGTGCACCATT	0.353																																						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.(1450-1452)Ggt>Tgt		piwi-like RNA-mediated gene silencing 1							103	95	98					12																	130841508		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.chr12:130841508G>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.1450G>T	12.37:g.130841508G>T	ENSP00000245255:p.Gly484Cys		Somatic					p.G484C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina GAIIx	Phase_I	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1722	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		484					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1450G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998547	0.74818	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.046949	0.85682	D	0.000000	T	0.34337	0.0894	M	0.72118	2.19	0.53688	D	0.999977	D;D	0.76494	0.996;0.999	P;D	0.68621	0.784;0.959	T	0.04693	-1.0933	10	0.62326	D	0.03	-17.2893	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	484;484	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	484	ENSP00000245255:G484C	ENSP00000245255:G484C	G	+	1	0	PIWIL1	129407461	1.000000	0.71417	0.333000	0.25482	0.947000	0.59692	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	GGT		0.353	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			6	39	6	39	---	---	---	---	T	130841508	G	T	130841508	3	4	310	1	0	0	0	0	1	0	0	0	11957	1000	35	1	1496	1	PIWIL1	12	130841508	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		130841508	3010387	17	11291										
PIWIL1	9271	broad.mit.edu	37	chr12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	aacaccagattttttgctcaGtctggaggaagacttcagaa	9	8	3	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)		TTTTTGCTCAGTCTGGAGGAA	0.398																																						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.(2251-2253)caG>caC		piwi-like RNA-mediated gene silencing 1							167	153	158					12																	130851735		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.chr12:130851735G>C	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.2253G>C	12.37:g.130851735G>C	ENSP00000245255:p.Gln751His		Somatic				PIWIL1_ENST00000541480.1_3'UTR	p.Q751H	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	WXS	Illumina GAIIx	Phase_I	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	19	2525	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		751			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2253G>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126999	0.37533	.	.	ENSG00000125207	ENST00000245255	T	0.31510	1.49	5.78	3.98	0.46160	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.437390	0.26207	N	0.025708	T	0.19604	0.0471	L	0.28274	0.84	0.34223	D	0.67563	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.12451	-1.0547	10	0.48119	T	0.1	-19.3782	6.563	0.22497	0.1479:0.0:0.7071:0.1449	.	751;751	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	751	ENSP00000245255:Q751H	ENSP00000245255:Q751H	Q	+	3	2	PIWIL1	129417688	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.091000	0.15046	0.805000	0.34159	0.591000	0.81541	CAG		0.398	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	46	40	46	---	---	---	---	C	130851735	G	C	130851735	3	2	310	1	0	0	0	0	1	0	0	0	11957	1020	36	4	2323	4	PIWIL1	12	130851735	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	10227	130851735	3000160	18	11292										
C14orf115	55237	broad.mit.edu	37	chr14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	caggtgaggaccctcccgccCccggggagctcctgccacta	12	18	0	1	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					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						CCCTCCCGCCCCCGGGGAGCT	0.652																																						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.(1480-1482)Ccc>Tcc		vertebrae development associated		C	SER/PRO	0,4396		0,0,2198	30	37	34		1480	-1.3	0	14	dbSNP_134	34	1,8575		0,1,4287	no	missense	VRTN	NM_018228.2	74	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	benign	494/703	74824966	1,12971	2198	4288	6486	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824966C>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.1480C>T	14.37:g.74824966C>T	ENSP00000256362:p.Pro494Ser		Somatic					p.P494S	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	Q9H8Y1	VRTN_HUMAN			2	1721	+			494					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1480C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094074	0.08632	0.0	1.17E-4	ENSG00000133980	ENST00000256362	T	0.39787	1.06	4.19	-1.31	0.09230	.	0.394257	0.24447	N	0.038456	T	0.17152	0.0412	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	10	0.08179	T	0.78	-7.2282	5.9701	0.19346	0.0:0.3418:0.3539:0.3043	.	494	Q9H8Y1	VRTN_HUMAN	S	494	ENSP00000256362:P494S	ENSP00000256362:P494S	P	+	1	0	VRTN	73894719	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.874000	0.04210	0.066000	0.16515	0.491000	0.48974	CCC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		16	39	16	39	---	---	---	---	T	74824966	C	T	74824966	3	4	310	1	0	0	0	0	1	0	0	0	1740	623	22	2	1482	2	C14orf115	14	74824966	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		74824966	32524574	19	11293										
SERPINA9	327657	broad.mit.edu	37	chr14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	tgaaggagacagtgaagtaaGaggggccatccttcgatcgg	15	7	0	4			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000380365.3	-	5	1226	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S401Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(1201-1203)tCt>tAt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							153	154	154					14																	94929536		2079	4196	6275	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929536G>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1148C>A	14.37:g.94929536G>T	ENSP00000369723:p.Ser383Tyr		Somatic				SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	p.S401Y	NM_175739.3	NP_783866.2	WXS	Illumina GAIIx	Phase_I	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1276	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	383					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1202C>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465925	0.43839	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	4.21	0.0189	0.14118	.	1.073310	0.07570	U	0.918416	T	0.80660	0.4665	L	0.47190	1.495	0.09310	N	1	P;B;P	0.50156	0.801;0.064;0.932	P;B;P	0.50659	0.476;0.064;0.647	T	0.66217	-0.5979	10	0.02654	T	1	.	5.4523	0.16572	0.2614:0.0:0.597:0.1416	.	303;401;301	Q86WD7-6;Q86WD7-7;Q86WD7-2	.;.;.	Y	303;301;252;401;383	ENSP00000414092:S303Y;ENSP00000298845:S301Y;ENSP00000409012:S252Y;ENSP00000337133:S401Y;ENSP00000369723:S383Y	ENSP00000298845:S301Y	S	-	2	0	SERPINA9	93999289	0.000000	0.05858	0.004000	0.12327	0.132000	0.20833	-0.802000	0.04545	0.184000	0.20083	0.561000	0.74099	TCT		0.488	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		8	48	8	48	---	---	---	---	T	94929536	G	T	94929536	3	4	310	1	0	0	0	0	1	0	0	0	14095	942	33	3	109	3	SERPINA9	14	94929536	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08	20104570	94929536	12420004	20	11294										
SLC12A6	9990	broad.mit.edu	37	chr15	34527452	34527452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	accagctttgcttcatgggaCttgttaactataacctcgtt	7	10	1	0			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000560164.1_Silent_p.K909K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000558667.1_Silent_p.K1097K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					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)	CTTCATGGGACTTGTTAACTA	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.(3289-3291)aaG>aaA		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						115	108	110					15																	34527452		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34527452C>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.3291G>A	15.37:g.34527452C>T			Somatic				SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560164.1_Silent_p.K909K	p.K1097K			WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	25	3783	-		all_lung(180;2.78e-08)	1097					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3291G>A	CCDS58352.1																																																																																				0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	18	9	18	---	---	---	---	T	34527452	C	T	34527452	2	4	310	1	0	0	0	0	0	0	0	1	14387	564	20	2		2	SLC12A6	15	34527452	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		34527452	68003940	21	11295										
ZNF646	9726	broad.mit.edu	37	chr16	31090753	31090753	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	acccccttgggagacagcctCtgcatccagggtggggaaag	14	12	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3106-3108)ctC>ctT		zinc finger protein 646							105	106	106					16																	31090753		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090753C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3108C>T	16.37:g.31090753C>T			Somatic				ZNF646_ENST00000300850.5_Silent_p.L1036L	p.L1036L			WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	3531	+			1036					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3108C>T																																																																																					0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		64	52	64	52	---	---	---	---	T	31090753	C	T	31090753	2	4	310	1	0	0	0	0	0	0	0	1	18059	900	32	2		2	ZNF646	16	31090753	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		31090753	59264000	22	11296										
NOB1	28987	broad.mit.edu	37	chr16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	taggtgagacaccccaacaaActctgcttccaactggtatg	8	12	1	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(289-291)Ttt>Ctt		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							171	164	166					16																	69786182		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69786182A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.289T>C	16.37:g.69786182A>G	ENSP00000268802:p.Phe97Leu		Somatic					p.F97L	NM_014062.1	NP_054781.1	WXS	Illumina GAIIx	Phase_I	Q9ULX3	NOB1_HUMAN			3	318	-			97			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.289T>C	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077474	0.20227	.	.	ENSG00000141101	ENST00000268802	T	0.27890	1.64	5.21	4.1	0.47936	Nucleotide binding protein, PINc (1);	1.962480	0.01889	N	0.038403	T	0.11836	0.0288	N	0.01228	-0.945	0.23546	N	0.997446	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	9	.	.	.	.	3.8791	0.09071	0.6313:0.0:0.1623:0.2064	.	97	Q9ULX3	NOB1_HUMAN	L	97	ENSP00000268802:F97L	.	F	-	1	0	NOB1	68343683	0.977000	0.34250	0.956000	0.39512	0.992000	0.81027	1.444000	0.35068	2.077000	0.62373	0.533000	0.62120	TTT		0.433	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	52	8	52	---	---	---	---	G	69786182	A	G	69786182	3	3	310	1	0	0	0	0	1	0	0	0	10511	43	2	2	977	2	NOB1	16	69786182	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	38695429	69786182	20568571	23	11297										
MYH1	4619	broad.mit.edu	37	chr17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	attcctgctcctgatctcagCatccagtgtgctctgcatgg	9	13	2	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	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	1607					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						CTGATCTCAGCATCCAGTGTG	0.463																																						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.(4819-4821)Gct>Tct		myosin, heavy chain 1, skeletal muscle, adult							261	228	239					17																	10399704		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399704C>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.4819G>T	17.37:g.10399704C>A	ENSP00000226207:p.Ala1607Ser		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.A1607S	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			34	4913	-			1607					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4819G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775458	0.31411	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.42964	U	0.000638	T	0.70343	0.3213	L	0.31420	0.93	0.48975	D	0.999733	B	0.21147	0.052	B	0.26517	0.07	T	0.63532	-0.6616	10	0.20046	T	0.44	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1607	P12882	MYH1_HUMAN	S	1607	ENSP00000226207:A1607S	ENSP00000226207:A1607S	A	-	1	0	MYH1	10340429	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	2.721000	0.47260	2.687000	0.91594	0.655000	0.94253	GCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		27	95	27	95	---	---	---	---	A	10399704	C	A	10399704	3	1	310	1	0	0	0	0	1	0	0	0	10029	710	25	3	1028	3	MYH1	17	10399704	Missense_Mutation	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		10399704	70795506	24	11298										
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	11	7	1	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_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)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	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		45	40	45	40	---	---	---	---	G	47696688	T	G	47696688	3	3	310	1	0	0	0	0	1	0	0	0	15083	1638	57	5	892	5	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-YL-A8HM-01A-11D-A364-08	37296984	47696688	33498522	25	11299										
VAV1	7409	broad.mit.edu	37	chr19	6854100	6854100	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ggctggtggcgaggggagatCtatggccgggtgaggcaggc	22	7	1	2			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000602142.1	+	26	2557	c.2475C>A	c.(2473-2475)atC>atA	p.I825I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I|VAV1_ENST00000304076.2_Silent_p.I803I|VAV1_ENST00000599806.1_Silent_p.I770I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						GAGGGGAGATCTATGGCCGGG	0.612																																						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.(2407-2409)atC>atA		vav 1 guanine nucleotide exchange factor							77	67	70					19																	6854100		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.chr19:6854100C>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.2475C>A	19.37:g.6854100C>A			Somatic				VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000539284.1_Silent_p.I728I	p.I803I	NM_001258206.1	NP_001245135.1	WXS	Illumina GAIIx	Phase_I	P15498	VAV_HUMAN			25	2503	+			825			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2409C>A	CCDS12174.1																																																																																				0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	40	3	40	---	---	---	---	A	6854100	C	A	6854100	2	1	310	1	0	0	0	0	0	0	0	1	17128	903	32	3		3	VAV1	19	6854100	Silent	SNP	C	TCGA-YL-A8HM-01A-11D-A364-08		6854100	52274883	26	11300										
SFRS16	11129	broad.mit.edu	37	chr19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	agcggccgaggaggagagcaActcggacgaagatgaggtca	17	8	1	3			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000221455.3	+	7	679	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T|CLASRP_ENST00000544944.2_Missense_Mutation_p.N194T	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					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						GAGGAGAGCAACTCGGACGAA	0.617																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(580-582)aAc>aCc		CLK4-associating serine/arginine rich protein							176	116	137					19																	45561124		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561124A>C	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.581A>C	19.37:g.45561124A>C	ENSP00000221455:p.Asn194Thr		Somatic				CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T	p.N194T			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			6	1273	+			194					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.581A>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201106	0.79015	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.46063	1.51;1.5;0.88;1.5	5.48	5.48	0.80851	.	0.000000	0.39475	U	0.001350	T	0.26376	0.0644	N	0.08118	0	0.40877	D	0.983968	P;P;P	0.43287	0.73;0.802;0.702	B;B;B	0.41236	0.351;0.33;0.116	T	0.15235	-1.0444	10	0.39692	T	0.17	-40.7112	13.5244	0.61586	1.0:0.0:0.0:0.0	.	132;194;194	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	T	194;194;132;194	ENSP00000221455:N194T;ENSP00000375814:N194T;ENSP00000375815:N132T;ENSP00000438702:N194T	ENSP00000221455:N194T	N	+	2	0	CLASRP	50252964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.816000	0.75247	2.086000	0.62901	0.455000	0.32223	AAC		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		12	13	12	13	---	---	---	---	C	45561124	A	C	45561124	3	2	310	1	0	0	0	0	1	0	0	0	14172	43	2	5	603	5	SFRS16	19	45561124	Missense_Mutation	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	38707024	45561124	13567859	27	11301										
TRPC5	7224	broad.mit.edu	37	chrX	111095551	111095551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	cataggccacaatcttcaggGaaatagttgccaggtagagg	12	8	2	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					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						AATCTTCAGGGAAATAGTTGC	0.418																																						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.(1351-1353)tCc>tTc		transient receptor potential cation channel, subfamily C, member 5							142	119	127					X																	111095551		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111095551G>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.1352C>T	X.37:g.111095551G>A	ENSP00000262839:p.Ser451Phe		Somatic					p.S451F	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			5	2270	-			451					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1352C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949262	0.92660	.	.	ENSG00000072315	ENST00000262839	D	0.98264	-4.83	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	D	0.99790	1.1031	10	0.51188	T	0.08	-2.1385	19.057	0.93069	0.0:0.0:1.0:0.0	.	452;451	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	451	ENSP00000262839:S451F	ENSP00000262839:S451F	S	-	2	0	TRPC5	110982207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.449000	0.82847	0.600000	0.82982	TCC		0.418	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		43	7	43	7	---	---	---	---	A	111095551	G	A	111095551	3	1	310	1	0	0	0	0	1	0	0	0	16579	1174	41	2	1597	2	TRPC5	23	111095551	Missense_Mutation	SNP	G	TCGA-YL-A8HM-01A-11D-A364-08		111095551	44175009	28	11302										
OCRL	4952	broad.mit.edu	37	chrX	128679013	128679013	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	agccacttcagatgtgttcaAggtactagctttaattcctt	7	9	2	1			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66	PH.				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						GATGTGTTCAAGGTACTAGCT	0.333																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(196-198)caA>caC		oculocerebrorenal syndrome of Lowe							151	132	139					X																	128679013		2203	4300	6503	SO:0001630	splice_region_variant	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:128679013A>C	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.199+1A>C	X.37:g.128679013A>C			Somatic				OCRL_ENST00000357121.5_Splice_Site_p.Q66H|OCRL_ENST00000486673.1_3'UTR	p.Q66H	NM_000276.3	NP_000267.2	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			3	363	+			66					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.198A>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027400	0.75390	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.145098	0.48767	D	0.000169	D	0.94000	0.8078	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.973	D;P	0.63113	0.911;0.751	D	0.93942	0.7224	10	0.56958	D	0.05	.	10.6368	0.45569	1.0:0.0:0.0:0.0	.	66;66	Q01968-2;Q01968	.;OCRL_HUMAN	H	66	ENSP00000360154:Q66H;ENSP00000349635:Q66H	ENSP00000349635:Q66H	Q	+	3	2	OCRL	128506694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.786000	0.62425	1.780000	0.52325	0.417000	0.27973	CAA		0.333	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	23	2	23	2	---	---	---	---	C	128679013	A	C	128679013	5	2	310	1	0	0	0	0	0	0	1	0	10823	86	3	5	208	5	OCRL	23	128679013	Splice_Site	SNP	A	TCGA-YL-A8HM-01A-11D-A364-08	17583462	128679013	26591547	29	11303										
F8	2157	broad.mit.edu	37	chrX	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T													0.0666666666666667	2	1	1.41707317073171	2.36178861788618	1.01219512195122	1	1	0	ttagcctcaaagctgtagcaINStttttgtccataagcattct							TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				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)	AAGCTGTAGCATTTTTGTCCAT	0.356																																						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.(3220-3222)aatfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_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:154158843_154158844insT	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.3222dupA	X.37:g.154158848_154158848dupT	ENSP00000353393:p.Asn1074fs		Somatic					p.N1074fs	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	3421_3422	-	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)		1074			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3221_3222insA	CCDS35457.1																																																																																				0.356	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	27	42	27	---	---	---	---	T	154158844	-	T	154158843	7	5	310	1	0	1	1	0	0	0	0	0	5350	214	8	0	3913	0	F8	23	154158843	Frame_Shift_Ins	INS	-	TCGA-YL-A8HM-01A-11D-A364-08	25479830	154158843	1111717	30	11304										
PARS2	25973	broad.mit.edu	37	chr1	55224300	55224300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tgtcacttggtacagcaggaAgggaagctgcttgtaggaca	14	7	1	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr1:55224300A>G	ENST00000371279.3	-	2	617	c.535T>C	c.(535-537)Ttc>Ctc	p.F179L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	179					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)	TACAGCAGGAAGGGAAGCTGC	0.512																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(535-537)Ttc>Ctc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						143	143	143					1																	55224300		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224300A>G	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.535T>C	1.37:g.55224300A>G	ENSP00000360327:p.Phe179Leu		Somatic					p.F179L	NM_152268.3	NP_689481.2	WXS	Illumina GAIIx	Phase_I	Q7L3T8	SYPM_HUMAN			2	617	-			179					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.535T>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	1.909	-0.451122	0.04572	.	.	ENSG00000162396	ENST00000371279	T	0.66460	-0.21	5.15	1.65	0.23941	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.343534	0.27946	N	0.017212	T	0.16171	0.0389	N	0.00055	-2.37	0.25650	N	0.986109	B	0.02656	0.0	B	0.01281	0.0	T	0.43376	-0.9395	10	0.02654	T	1	-4.7859	3.4917	0.07639	0.4165:0.0:0.3961:0.1874	.	179	Q7L3T8	SYPM_HUMAN	L	179	ENSP00000360327:F179L	ENSP00000360327:F179L	F	-	1	0	PARS2	54996888	0.354000	0.24912	0.299000	0.25016	0.860000	0.49131	0.833000	0.27504	0.308000	0.22923	-0.371000	0.07208	TTC		0.512	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		4	91	4	91	---	---	---	---	G	55224300	A	G	55224300	3	3	311	1	0	0	0	0	1	0	0	0	11467	72	3	2	896	2	PARS2	1	55224300	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		55224300	194026321	1	11305										
USP34	9736	broad.mit.edu	37	chr2	61456734	61456734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gagcatgcacaggtctcagcCtctgaatcacatggatacac	9	12	3	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:61456734C>G	ENST00000398571.2	-	59	7224	c.7148G>C	c.(7147-7149)aGg>aCg	p.R2383T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2383					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)			AGGTCTCAGCCTCTGAATCAC	0.388																																						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.(7147-7149)aGg>aCg		ubiquitin specific peptidase 34							215	207	210					2																	61456734		1933	4145	6078	SO:0001583	missense	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.chr2:61456734C>G	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.7148G>C	2.37:g.61456734C>G	ENSP00000381577:p.Arg2383Thr		Somatic					p.R2383T	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		59	7224	-			2383					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.7148G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.147399|3.147399	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	.|T;T	.|0.65364	.|-0.15;3.77	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.056520	.|0.85682	.|D	.|0.000000	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.42245|0.42245	1.32|1.32	0.51482|0.51482	D|D	0.999928|0.999928	.|B	.|0.25351	.|0.124	.|B	.|0.36418	.|0.224	T|T	0.59048|0.59048	-0.7527|-0.7527	5|10	.|0.44086	.|T	.|0.13	.|.	20.156|20.156	0.98114|0.98114	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2383	.|Q70CQ2	.|UBP34_HUMAN	D|T	142|2231;2231;2383;661	.|ENSP00000381577:R2383T;ENSP00000410559:R661T	.|ENSP00000263989:R2231T	E|R	-|-	3|2	2|0	USP34|USP34	61310238|61310238	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.992000|0.992000	0.81027|0.81027	6.013000|6.013000	0.70776|0.70776	2.843000|2.843000	0.97960|0.97960	0.603000|0.603000	0.83216|0.83216	GAG|AGG		0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			5	141	5	141	---	---	---	---	G	61456734	C	G	61456734	3	3	311	1	0	0	0	0	1	0	0	0	17062	681	24	4	3580	4	USP34	2	61456734	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		61456734	181742639	2	11306										
CKAP2L	150468	broad.mit.edu	37	chr2	113514387	113514387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tctgttaagatatcgagcaaGttctctttgtttgtttcttt	7	6	3	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:113514387G>T	ENST00000302450.6	-	4	639	c.561C>A	c.(559-561)aaC>aaA	p.N187K	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_Missense_Mutation_p.N22K	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	187						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TATCGAGCAAGTTCTCTTTGT	0.323																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(64-66)aaC>aaA		cytoskeleton associated protein 2-like							90	95	93					2																	113514387		2202	4300	6502	SO:0001583	missense	150468					centrosome		g.chr2:113514387G>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.561C>A	2.37:g.113514387G>T	ENSP00000305204:p.Asn187Lys		Somatic				CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Missense_Mutation_p.N187K	p.N22K			WXS	Illumina GAIIx	Phase_I	Q8IYA6	CKP2L_HUMAN			4	589	-			187					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.66C>A	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929637	0.52759	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.24908	1.83;2.34	5.0	5.0	0.66597	.	0.161695	0.42294	D	0.000728	T	0.43500	0.1250	M	0.73598	2.24	0.37759	D	0.926253	D	0.57257	0.979	P	0.54026	0.74	T	0.51880	-0.8649	10	0.72032	D	0.01	-17.4544	14.5097	0.67776	0.0:0.0:1.0:0.0	.	187	Q8IYA6	CKP2L_HUMAN	K	22;187	ENSP00000438763:N22K;ENSP00000305204:N187K	ENSP00000305204:N187K	N	-	3	2	CKAP2L	113230858	0.866000	0.29940	0.990000	0.47175	0.141000	0.21300	0.972000	0.29409	2.705000	0.92388	0.585000	0.79938	AAC		0.323	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		5	30	5	30	---	---	---	---	T	113514387	G	T	113514387	3	4	311	1	0	0	0	0	1	0	0	0	3443	1020	36	3	1700	3	CKAP2L	2	113514387	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	52057653	113514387	129684986	3	11307										
EPB41L5	57669	broad.mit.edu	37	chr2	120847945	120847945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	caaagaacaggaacatacatTtgtctttagactggatcatc	7	8	2	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:120847945T>G	ENST00000263713.5	+	12	1110	c.896T>G	c.(895-897)tTt>tGt	p.F299C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						GAACATACATTTGTCTTTAGA	0.383																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(895-897)tTt>tGt		erythrocyte membrane protein band 4.1 like 5							117	114	115					2																	120847945		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847945T>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.896T>G	2.37:g.120847945T>G	ENSP00000263713:p.Phe299Cys		Somatic				EPB41L5_ENST00000443902.2_Missense_Mutation_p.F299C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.F299C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.F299C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.F299C	p.F299C	NM_020909.3	NP_065960.2	WXS	Illumina GAIIx	Phase_I	Q9HCM4	E41L5_HUMAN			12	1110	+			299			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.896T>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170341	0.78452	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.41	5.41	0.78517	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	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	0.987;1.0;0.993;1.0	D	0.96045	0.9027	10	0.87932	D	0	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	299;299;299;299	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	C	299	ENSP00000263713:F299C;ENSP00000393856:F299C;ENSP00000329687:F299C;ENSP00000393722:F299C;ENSP00000390439:F299C	ENSP00000263713:F299C	F	+	2	0	EPB41L5	120564415	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.862000	0.87013	2.184000	0.69523	0.477000	0.44152	TTT		0.383	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		20	56	20	56	---	---	---	---	G	120847945	T	G	120847945	3	3	311	1	0	0	0	0	1	0	0	0	5157	1841	64	5	938	5	EPB41L5	2	120847945	Missense_Mutation	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	7333558	120847945	122351428	4	11308										
FZD7	8324	broad.mit.edu	37	chr2	202899587	202899587	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tcctgcccaacctgctgggcCacacgaaccaagaggacgcg	11	16	0	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr2:202899587C>G	ENST00000286201.1	+	1	278	c.217C>G	c.(217-219)Cac>Gac	p.H73D	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	73	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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						CCTGCTGGGCCACACGAACCA	0.612																																						ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(217-219)Cac>Gac		frizzled family receptor 7							127	111	116					2																	202899587		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.chr2:202899587C>G	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.217C>G	2.37:g.202899587C>G	ENSP00000286201:p.His73Asp		Somatic					p.H73D	NM_003507.1	NP_003498.1	WXS	Illumina GAIIx	Phase_I	O75084	FZD7_HUMAN			1	278	+			73			FZ.		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.217C>G	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308277	0.60305	.	.	ENSG00000155760	ENST00000286201	D	0.81996	-1.56	5.0	4.12	0.48240	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.94182	0.7433	10	0.62326	D	0.03	.	14.7142	0.69254	0.1463:0.8537:0.0:0.0	.	73	O75084	FZD7_HUMAN	D	73	ENSP00000286201:H73D	ENSP00000286201:H73D	H	+	1	0	FZD7	202607832	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.072000	0.71238	1.077000	0.40990	0.313000	0.20887	CAC		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		9	23	9	23	---	---	---	---	G	202899587	C	G	202899587	3	3	311	1	0	0	0	0	1	0	0	0	6135	594	21	4	219	4	FZD7	2	202899587	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	82051642	202899587	40299786	5	11309										
LRRN1	57633	broad.mit.edu	37	chr3	3887996	3887996	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	acgtcaaacttaaaatggtcGtctgccaccatgaagattga	8	9	2	3			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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)		TAAAATGGTCGTCTGCCACCA	0.443																																						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.(1669-1671)tcG>tcT		leucine rich repeat neuronal 1							202	205	204					3																	3887996		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887996G>T	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.1671G>T	3.37:g.3887996G>T			Somatic				SUMF1_ENST00000534863.1_Intron	p.S557S	NM_020873.5	NP_065924.3	WXS	Illumina GAIIx	Phase_I	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	2432	+			557			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1671G>T	CCDS33685.1																																																																																				0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		9	191	9	191	---	---	---	---	T	3887996	G	T	3887996	2	4	311	1	0	0	0	0	0	0	0	1	9034	1132	40	3		3	LRRN1	3	3887996	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		3887996	194134434	6	11310										
APBB2	323	broad.mit.edu	37	chr4	40829194	40829194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	attggccctttcctgtaaggAgctgcaggccagcgctttgg	13	11	0	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr4:40829194A>G	ENST00000295974.8	-	14	2313	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P	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	562	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						TCCTGTAAGGAGCTGCAGGCC	0.532																																					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.(1684-1686)Tcc>Ccc		amyloid beta (A4) precursor protein-binding, family B, member 2							167	167	167					4																	40829194		2022	4183	6205	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.chr4:40829194A>G	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.1684T>C	4.37:g.40829194A>G	ENSP00000295974:p.Ser562Pro		Somatic				APBB2_ENST00000513140.1_Missense_Mutation_p.S541P|APBB2_ENST00000506352.1_Missense_Mutation_p.S541P|APBB2_ENST00000543538.1_Missense_Mutation_p.S14P|APBB2_ENST00000508593.1_Missense_Mutation_p.S563P|APBB2_ENST00000504305.1_Missense_Mutation_p.S14P|APBB2_ENST00000502841.1_Missense_Mutation_p.S14P	p.S562P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	WXS	Illumina GAIIx	Phase_I	Q92870	APBB2_HUMAN			14	2313	-			562			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1684T>C	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.642029|3.642029	0.67244|0.67244	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T	.|0.49432	.|2.31;0.8;2.36;2.31;0.8;2.35;0.8;0.78	5.89|5.89	3.33|3.33	0.38152|0.38152	.|.	.|0.167857	.|0.56097	.|D	.|0.000037	T|T	0.36771|0.36771	0.0979|0.0979	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P	.|0.47253	.|0.822;0.889;0.892	.|P;P;P	.|0.51170	.|0.46;0.661;0.46	T|T	0.11518|0.11518	-1.0584|-1.0584	5|10	.|0.30854	.|T	.|0.27	-13.591|-13.591	12.8694|12.8694	0.57957|0.57957	0.7441:0.2559:0.0:0.0|0.7441:0.2559:0.0:0.0	.|.	.|563;541;562	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	P|P	531|562;561;14;541;563;14;541;14;76;14;14;14	.|ENSP00000295974:S562P;ENSP00000439357:S14P;ENSP00000426018:S541P;ENSP00000427211:S563P;ENSP00000425802:S14P;ENSP00000421539:S541P;ENSP00000423765:S14P;ENSP00000426429:S76P	.|ENSP00000295974:S562P	L|S	-|-	2|1	0|0	APBB2|APBB2	40523951|40523951	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	5.668000|5.668000	0.68074|0.68074	0.423000|0.423000	0.26033|0.26033	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		7	84	7	84	---	---	---	---	G	40829194	A	G	40829194	3	3	311	1	0	0	0	0	1	0	0	0	761	304	11	2	612	2	APBB2	4	40829194	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		40829194	150325082	7	11311										
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217407	26217407	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	agatcttagagctagctggcAacgcggctcgcgacaataag	12	10	1	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:26217407A>C	ENST00000303910.2	+	1	243	c.205A>C	c.(205-207)Aac>Cac	p.N69H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCTAGCTGGCAACGCGGCTCG	0.602																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)Aac>Cac		histone cluster 1, H2ae							61	61	61					6																	26217407		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217407A>C	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.205A>C	6.37:g.26217407A>C	ENSP00000303373:p.Asn69His		Somatic					p.N69H	NM_021052.2	NP_066390.1	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	243	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.205A>C	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352765	0.41700	.	.	ENSG00000168274	ENST00000303910	T	0.69926	-0.44	4.07	4.07	0.47477	.	0.000000	0.36740	U	0.002429	D	0.86573	0.5965	H	0.99042	4.41	0.46356	D	0.999004	.	.	.	.	.	.	D	0.91107	0.4919	8	0.87932	D	0	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	H	69	ENSP00000303373:N69H	ENSP00000303373:N69H	N	+	1	0	HIST1H2AE	26325386	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	8.908000	0.92640	1.834000	0.53371	0.528000	0.53228	AAC		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	32	5	32	---	---	---	---	C	26217407	A	C	26217407	3	2	311	1	0	0	0	0	1	0	0	0	7132	130	5	5	207	5	HIST1H2AE	6	26217407	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		26217407	144897660	8	11312										
LACE1	246269	broad.mit.edu	37	chr6	108768474	108768474	+	Frame_Shift_Del	DEL	C	C	-													0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	attaccggaaaagggaacttCctgctgcaggaaaactctac							TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr6:108768474delC	ENST00000368977.4	+	8	1051	c.865delC	c.(865-867)cctfs	p.P289fs		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	289						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)		AAGGGAACTTCCTGCTGCAGG	0.328																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(865-867)cctfs		lactation elevated 1							103	106	105					6																	108768474		2203	4300	6503	SO:0001589	frameshift_variant	246269						ATP binding	g.chr6:108768474delC	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.865delC	6.37:g.108768474delC	ENSP00000357973:p.Pro289fs		Somatic					p.P289fs	NM_145315.3	NP_660358.2	WXS	Illumina GAIIx	Phase_I	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)	8	1051	+		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)	289					Q8N6A3	Frame_Shift_Del	DEL	ENST00000368977.4	37	c.865delC	CCDS5067.1																																																																																				0.328	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		7	92	7	92	---	---	---	---	-	108768474	C	-	108768474	7	5	311	1	0	1	0	1	0	0	0	0	8595	855	30	0	895	0	LACE1	6	108768474	Frame_Shift_Del	DEL	C	TCGA-YL-A8HO-01A-11D-A364-08	82551067	108768474	62346593	9	11313										
ZNF498	221785	broad.mit.edu	37	chr7	99217321	99217321	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gaaagagttgccatggggcaGaggaagggaggaccctagtc	17	7	0	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr7:99217321G>C	ENST00000394152.2	+	4	419	c.92G>C	c.(91-93)aGa>aCa	p.R31T	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	31					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)										CCATGGGGCAGAGGAAGGGAG	0.557																																						ENST00000394152.2																			0											c.(91-93)aGa>aCa		zinc finger and SCAN domain containing 25							146	164	158					7																	99217321		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217321G>C	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.92G>C	7.37:g.99217321G>C	ENSP00000377708:p.Arg31Thr		Somatic				ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R31T|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R31T|ZSCAN25_ENST00000466948.1_3'UTR	p.R31T	NM_145115.2	NP_660090.2	WXS	Illumina GAIIx	Phase_I					4	419	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.92G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	5.389	0.257007	0.10239	.	.	ENSG00000197037	ENST00000394152;ENST00000431485;ENST00000334715;ENST00000262941	T;T;T;T	0.08896	3.08;3.05;3.08;3.04	4.4	1.43	0.22495	.	0.283865	0.26038	N	0.026717	T	0.04452	0.0122	N	0.19112	0.55	0.24533	N	0.994106	B;B	0.30281	0.275;0.079	B;B	0.27076	0.076;0.035	T	0.33650	-0.9860	10	0.62326	D	0.03	-19.0159	3.6552	0.08218	0.2468:0.2061:0.5471:0.0	.	31;31	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	T	31	ENSP00000377708:R31T;ENSP00000413144:R31T;ENSP00000334800:R31T;ENSP00000262941:R31T	ENSP00000262941:R31T	R	+	2	0	ZNF498	99055257	0.978000	0.34361	0.141000	0.22245	0.000000	0.00434	1.305000	0.33493	0.305000	0.22832	-0.916000	0.02749	AGA		0.557	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		7	167	7	167	---	---	---	---	C	99217321	G	C	99217321	3	2	311	1	0	0	0	0	1	0	0	0	17944	942	33	4	94	4	ZNF498	7	99217321	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		99217321	59921342	10	11314										
ADRA1A	148	broad.mit.edu	37	chr8	26623613	26623613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	ggtggcatcataaaattcacAtgcttgatatgctctctgca	8	9	3	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:26623613A>G	ENST00000354550.4	-	3	1522	c.1323T>C	c.(1321-1323)caT>caC	p.H441H	ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron	NM_033304.2	NP_150647.2	P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					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)	TAAAATTCACATGCTTGATAT	0.443																																						ENST00000354550.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1321-1323)caT>caC		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)						158	148	152					8																	26623613		2203	4300	6503	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.chr8:26623613A>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	ENST00000354550.4:c.1323T>C	8.37:g.26623613A>G			Somatic				ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron	p.H441H	NM_033304.2	NP_150647.2	WXS	Illumina GAIIx	Phase_I	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	1522	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	0					Q9NPY0	Silent	SNP	ENST00000354550.4	37	c.1323T>C	CCDS6053.1																																																																																				0.443	ADRA1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216928.1	NM_033303		14	61	14	61	---	---	---	---	G	26623613	A	G	26623613	2	3	311	1	0	0	0	0	0	0	0	1	334	214	8	2		2	ADRA1A	8	26623613	Silent	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		26623613	119740409	11	11315										
OC90	729330	broad.mit.edu	37	chr8	133053367	133053367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tggagacagtccatctcagcGgcctcctcatagcacctgcg	10	15	2	1	rs368734460		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr8:133053367G>A	ENST00000443356.2	-	6	467	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A|OC90_ENST00000262283.5_Silent_p.A323A			Q02509	OC90_HUMAN	otoconin 90	127	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.A133A(1)|p.A323A(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)			CCATCTCAGCGGCCTCCTCAT	0.577																																						ENST00000262283.5																			2	Substitution - coding silent(2)	p.A133A(1)|p.A323A(1)	large_intestine(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.(967-969)gcC>gcT		otoconin 90		G		0,3930		0,0,1965	108	107	107		381	-11.2	0	8		107	1,8323		0,1,4161	no	coding-synonymous	OC90	NM_001080399.2		0,1,6126	AA,AG,GG		0.012,0.0,0.0082		127/478	133053367	1,12253	1965	4162	6127	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053367G>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.381C>T	8.37:g.133053367G>A			Somatic				OC90_ENST00000443356.2_Silent_p.A127A|OC90_ENST00000603859.1_Silent_p.A127A|OC90_ENST00000254627.3_Silent_p.A127A	p.A323A			WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1068	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		127			Phospholipase A2-like 2.		B4DNG8	Silent	SNP	ENST00000443356.2	37	c.969C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		14	87	14	87	---	---	---	---	A	133053367	G	A	133053367	2	1	311	1	0	0	0	0	0	0	0	1	10814	1103	39	2		2	OC90	8	133053367	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	106429754	133053367	13310655	12	11316										
CYP2C19	1557	broad.mit.edu	37	chr10	96580307	96580307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	aaaacttggtaatcactgcaGctgacttacttggagctggg	11	8	1	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr10:96580307G>A	ENST00000371321.3	+	6	956	c.874G>A	c.(874-876)Gct>Act	p.A292T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					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.A292P(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)	AATCACTGCAGCTGACTTACT	0.418																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.A292P(1)	large_intestine(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.(874-876)Gct>Act		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)						167	152	157					10																	96580307		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.chr10:96580307G>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.874G>A	10.37:g.96580307G>A	ENSP00000360372:p.Ala292Thr		Somatic				CYP2C19_ENST00000464755.1_3'UTR	p.A292T	NM_000769.1	NP_000760	WXS	Illumina GAIIx	Phase_I	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	956	+		Colorectal(252;0.09)	292					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.874G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	4.025	0.002041	0.07819	.	.	ENSG00000165841	ENST00000371321	T	0.12147	2.71	3.95	-7.89	0.01174	.	0.479979	0.17652	U	0.166646	T	0.04634	0.0126	N	0.16166	0.38	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19943	-1.0290	10	0.22109	T	0.4	.	5.0567	0.14537	0.2652:0.0892:0.5167:0.1289	.	292	P33261	CP2CJ_HUMAN	T	292	ENSP00000360372:A292T	ENSP00000360372:A292T	A	+	1	0	CYP2C19	96570297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.207000	0.00041	-2.175000	0.00771	-0.755000	0.03482	GCT		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		5	80	5	80	---	---	---	---	A	96580307	G	A	96580307	3	1	311	1	0	0	0	0	1	0	0	0	4166	971	34	2	896	2	CYP2C19	10	96580307	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		96580307	38954440	13	11317										
C11orf42	160298	broad.mit.edu	37	chr11	6231080	6231080	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tataaactggccacctgcagGtcatcgaggagcactttggg	12	10	1	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:6231080G>A	ENST00000316375.2	+	2	123	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	25										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCTGCAGGTCATCGAGGA	0.507																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(73-75)Gtc>Atc		chromosome 11 open reading frame 42							160	134	143					11																	6231080		2201	4296	6497	SO:0001630	splice_region_variant	160298							g.chr11:6231080G>A	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.73-1G>A	11.37:g.6231080G>A			Somatic					p.V25I	NM_173525.2	NP_775796.2	WXS	Illumina GAIIx	Phase_I	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	123	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	25						Splice_Site	SNP	ENST00000316375.2	37	c.73G>A	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245567	0.59103	.	.	ENSG00000180878	ENST00000316375	T	0.60299	0.2	5.1	5.1	0.69264	.	0.000000	0.47455	D	0.000227	T	0.61565	0.2357	N	0.24115	0.695	0.35074	D	0.762793	D	0.61697	0.99	D	0.73380	0.98	T	0.66488	-0.5911	9	.	.	.	-12.088	13.8814	0.63684	0.0:0.0:1.0:0.0	.	25	Q8N5U0	CK042_HUMAN	I	25	ENSP00000321021:V25I	.	V	+	1	0	C11orf42	6187656	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.841000	0.62824	2.659000	0.90383	0.585000	0.79938	GTC		0.507	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525	Missense_Mutation	5	68	5	68	---	---	---	---	A	6231080	G	A	6231080	5	1	311	1	0	0	0	0	0	0	1	0	1641	1275	44	2	79	2	C11orf42	11	6231080	Splice_Site	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		6231080	128775436	14	11318										
MRGPRX1	259249	broad.mit.edu	37	chr11	18956163	18956163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gatggagaaggcgttcctgcGcatgcggcagcccaggagcc	16	12	0	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:18956163G>A	ENST00000302797.3	-	1	393	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					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						GCGTTCCTGCGCATGCGGCAG	0.557																																						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.(169-171)Cgc>Tgc		MAS-related GPR, member X1							146	141	143					11																	18956163		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956163G>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.169C>T	11.37:g.18956163G>A	ENSP00000305766:p.Arg57Cys		Somatic				MRGPRX1_ENST00000526914.1_5'UTR	p.R57C	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			1	393	-			57					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.169C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	9.146	1.015153	0.19355	.	.	ENSG00000170255	ENST00000302797	T	0.10960	2.82	2.43	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.831486	0.10560	N	0.660392	T	0.14743	0.0356	M	0.83118	2.625	0.09310	N	1	B	0.26935	0.164	B	0.24269	0.052	T	0.24083	-1.0170	10	0.51188	T	0.08	.	4.9666	0.14094	0.0:0.2369:0.521:0.2421	.	57	Q96LB2	MRGX1_HUMAN	C	57	ENSP00000305766:R57C	ENSP00000305766:R57C	R	-	1	0	MRGPRX1	18912739	0.000000	0.05858	0.038000	0.18304	0.029000	0.11900	-0.661000	0.05311	0.548000	0.28955	0.491000	0.48974	CGC		0.557	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		4	150	4	150	---	---	---	---	A	18956163	G	A	18956163	3	1	311	1	0	0	0	0	1	0	0	0	9766	1087	38	2	803	2	MRGPRX1	11	18956163	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	12725083	18956163	116050353	15	11319										
BDNF	627	broad.mit.edu	37	chr11	27679584	27679584	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tcgtagaagtattgcttcagTtggccttttgatacagggac	11	7	1	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:27679584T>C	ENST00000525528.1	-	1	1621	c.528A>G	c.(526-528)caA>caG	p.Q176Q	BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000584049.1_5'UTR	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	176					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						ATTGCTTCAGTTGGCCTTTTG	0.502																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(526-528)caA>caG		brain-derived neurotrophic factor							215	211	212					11																	27679584		2202	4299	6501	SO:0001819	synonymous_variant	627					extracellular region	growth factor activity	g.chr11:27679584T>C	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.528A>G	11.37:g.27679584T>C			Somatic				BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395983.3_Silent_p.Q176Q|BDNF_ENST00000314915.6_Silent_p.Q184Q|BDNF_ENST00000439476.2_Silent_p.Q176Q|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395978.3_Silent_p.Q176Q|BDNF_ENST00000420794.1_Silent_p.Q176Q|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000395986.2_Silent_p.Q191Q|BDNF_ENST00000532997.1_Silent_p.Q176Q|BDNF_ENST00000533246.1_Silent_p.Q176Q|BDNF_ENST00000356660.4_Silent_p.Q176Q|BDNF_ENST00000395980.2_Silent_p.Q176Q|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000418212.1_Silent_p.Q176Q|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Silent_p.Q176Q|BDNF_ENST00000395981.3_Silent_p.Q176Q|BDNF_ENST00000530861.1_Silent_p.Q176Q|BDNF_ENST00000438929.1_Silent_p.Q258Q|BDNF_ENST00000533131.1_Silent_p.Q176Q|BDNF-AS_ENST00000532965.1_RNA	p.Q176Q	NM_170735.5	NP_733931.1	WXS	Illumina GAIIx	Phase_I	P23560	BDNF_HUMAN			1	1621	-			176					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Silent	SNP	ENST00000525528.1	37	c.528A>G	CCDS7866.1																																																																																				0.502	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		11	115	11	115	---	---	---	---	C	27679584	T	C	27679584	2	2	311	1	0	0	0	0	0	0	0	1	1394	1722	60	2		2	BDNF	11	27679584	Silent	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	8723421	27679584	107326932	16	11320										
STT3A	3703	broad.mit.edu	37	chr11	125483004	125483004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tactatctgcccgtggtgggGatggcagtaggatcatattt	13	7	2	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr11:125483004G>T	ENST00000529196.1	+	14	1692	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y|STT3A_ENST00000392708.4_Missense_Mutation_p.D496Y			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	496					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)		CCGTGGTGGGGATGGCAGTAG	0.483																																						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.(1486-1488)Gat>Tat		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							181	168	172					11																	125483004		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.chr11:125483004G>T	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.1486G>T	11.37:g.125483004G>T	ENSP00000436962:p.Asp496Tyr		Somatic				STT3A_ENST00000529196.1_Missense_Mutation_p.D496Y|STT3A_ENST00000531491.1_Missense_Mutation_p.D404Y	p.D496Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1645	+	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)	496					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1486G>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091628	0.76756	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.92219	3.285	0.80722	D	1	P;B	0.47762	0.9;0.314	P;B	0.54174	0.744;0.178	D	0.87053	0.2148	9	0.87932	D	0	-19.6671	19.8035	0.96518	0.0:0.0:1.0:0.0	.	404;496	B4DJ24;P46977	.;STT3A_HUMAN	Y	496;496;404	.	ENSP00000376472:D496Y	D	+	1	0	STT3A	124988214	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.771000	0.95319	0.563000	0.77884	GAT		0.483	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		7	73	7	73	---	---	---	---	T	125483004	G	T	125483004	3	4	311	1	0	0	0	0	1	0	0	0	15332	1174	41	3	1532	3	STT3A	11	125483004	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	97803420	125483004	9523512	17	11321										
COMMD6	170622	broad.mit.edu	37	chr13	76104276	76104276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	ctgtggaatcgtcatttcaaAgcacttggtctttacttggc	9	9	3	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr13:76104276A>G	ENST00000377615.3	-	4	345	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L	COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	61	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GTCATTTCAAAGCACTTGGTC	0.378																																						ENST00000377615.3																			0				breast(1)|lung(1)|urinary_tract(1)	3						c.(181-183)Ttt>Ctt		COMM domain containing 6							151	135	140					13																	76104276		2203	4300	6503	SO:0001583	missense	170622					cytoplasm|nucleus	protein binding	g.chr13:76104276A>G	AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.181T>C	13.37:g.76104276A>G	ENSP00000366841:p.Phe61Leu		Somatic				COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.F76L|COMMD6_ENST00000406936.3_Missense_Mutation_p.F61L|COMMD6_ENST00000355801.4_Missense_Mutation_p.F61L	p.F61L			WXS	Illumina GAIIx	Phase_I	Q7Z4G1	COMD6_HUMAN		GBM - Glioblastoma multiforme(99;0.0104)	4	345	-		Breast(118;0.0979)|Prostate(6;0.122)	61			COMM.		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	c.181T>C	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590628	0.46214	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000377619;ENST00000355801	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.23	4.02	0.46733	COMM domain (1);	0.050243	0.85682	D	0.000000	T	0.08802	0.0218	.	.	.	0.54753	D	0.999987	B;P	0.34724	0.247;0.465	B;B	0.34590	0.186;0.179	T	0.30966	-0.9960	9	0.23891	T	0.37	.	11.0338	0.47789	0.8562:0.0:0.0:0.1438	.	61;61	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	61;61;76;61	ENSP00000385660:F61L;ENSP00000366841:F61L;ENSP00000366845:F76L;ENSP00000348054:F61L	ENSP00000348054:F61L	F	-	1	0	COMMD6	75002277	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.687000	0.68219	0.897000	0.36392	0.533000	0.62120	TTT		0.378	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023		4	77	4	77	---	---	---	---	G	76104276	A	G	76104276	3	3	311	1	0	0	0	0	1	0	0	0	3720	72	3	2	127	2	COMMD6	13	76104276	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08		76104276	39065602	18	11322										
REC8	9985	broad.mit.edu	37	chr14	24642195	24642195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	ttctccctctatctctcagcCcaacttcagatcggtgtgat	6	14	5	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					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)		ATCTCTCAGCCCAACTTCAGA	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.(211-213)gcC>gcT		REC8 meiotic recombination protein							83	91	89					14																	24642195		1973	4145	6118	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642195C>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.213C>T	14.37:g.24642195C>T			Somatic				REC8_ENST00000559919.1_Silent_p.A71A	p.A71A			WXS	Illumina GAIIx	Phase_I	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	812	+			71					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.213C>T	CCDS41932.1																																																																																				0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		6	36	6	36	---	---	---	---	T	24642195	C	T	24642195	2	4	311	1	0	0	0	0	0	0	0	1	13199	610	22	2		2	REC8	14	24642195	Silent	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		24642195	82707345	19	11323										
SIPA1L1	26037	broad.mit.edu	37	chr14	72054926	72054926	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	ttgatagcctgtcctccaaaAgcagtcctgtgagtcaggga	11	10	1	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:72054926A>T	ENST00000555818.1	+	2	685	c.337A>T	c.(337-339)Agc>Tgc	p.S113C	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	113	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)		GTCCTCCAAAAGCAGTCCTGT	0.453																																						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.(337-339)Agc>Tgc		signal-induced proliferation-associated 1 like 1							146	152	150					14																	72054926		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.chr14:72054926A>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.337A>T	14.37:g.72054926A>T	ENSP00000450832:p.Ser113Cys		Somatic				SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S113C|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S113C	p.S113C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	685	+			113			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.337A>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250860	0.59212	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78246	-1.16;-1.16;-1.16	5.93	3.3	0.37823	.	0.322816	0.41500	D	0.000862	T	0.80138	0.4568	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.66847	0.808;0.947;0.808	T	0.80473	-0.1367	10	0.66056	D	0.02	-17.9926	10.537	0.45009	0.8454:0.0:0.1546:0.0	.	113;113;113	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	113	ENSP00000370630:S113C;ENSP00000450832:S113C;ENSP00000351352:S113C	ENSP00000351352:S113C	S	+	1	0	SIPA1L1	71124679	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.533000	0.67160	1.074000	0.40909	0.533000	0.62120	AGC		0.453	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	84	7	84	---	---	---	---	T	72054926	A	T	72054926	3	4	311	1	0	0	0	0	1	0	0	0	14329	72	3	5	339	5	SIPA1L1	14	72054926	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08	47412731	72054926	35294614	20	11324										
NRXN3	9369	broad.mit.edu	37	chr14	79181239	79181239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tccccaccgagctgtggactGccatgctcaactatggctac	9	15	1	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr14:79181239G>T	ENST00000554719.1	+	5	1173	c.682G>T	c.(682-684)Gcc>Tcc	p.A228S	NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		GCTGTGGACTGCCATGCTCAA	0.592																																						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.(682-684)Gcc>Tcc		neurexin 3							82	69	74					14																	79181239		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181239G>T	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.682G>T	14.37:g.79181239G>T	ENSP00000451648:p.Ala228Ser		Somatic				NRXN3_ENST00000335750.5_Missense_Mutation_p.A228S	p.A228S	NM_004796.4	NP_004787.2	WXS	Illumina GAIIx	Phase_I	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1173	+		Renal(4;0.00876)	0			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.682G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389799	0.95988	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79033	-1.23;-1.23	5.83	5.83	0.93111	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	0.88847	0.6548	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.97	D;D	0.91635	0.999;0.975	D	0.87829	0.2643	8	.	.	.	.	20.1082	0.97900	0.0:0.0:1.0:0.0	.	601;228	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	S	601;599;228;228	ENSP00000451648:A228S;ENSP00000338349:A228S	.	A	+	1	0	NRXN3	78250992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.764000	0.94973	0.555000	0.69702	GCC		0.592	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		3	37	3	37	---	---	---	---	T	79181239	G	T	79181239	3	4	311	1	0	0	0	0	1	0	0	0	10667	1319	46	3	692	3	NRXN3	14	79181239	Missense_Mutation	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	7126313	79181239	28168301	21	11325										
NEDD4	4734	broad.mit.edu	37	chr15	56126282	56126282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gatttgcactgtagccatttTtatactttgtatgttccctc	6	9	0	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:56126282T>C	ENST00000508342.1	-	22	3940	c.3641A>G	c.(3640-3642)aAa>aGa	p.K1214R	NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1214	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTAGCCATTTTTATACTTTGT	0.308																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3640-3642)aAa>aGa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							162	146	152					15																	56126282		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56126282T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3641A>G	15.37:g.56126282T>C	ENSP00000424827:p.Lys1214Arg		Somatic				NEDD4_ENST00000338963.2_Missense_Mutation_p.K1142R|NEDD4_ENST00000435532.3_Missense_Mutation_p.K795R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K1198R	p.K1214R	NM_001284338.1	NP_001271267.1	WXS	Illumina GAIIx	Phase_I	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	22	3940	-			1214			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3641A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.201431|2.201431	0.38905|0.38905	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T|T;T;T;T	0.57273|0.58652	0.41|0.32;0.32;0.32;0.32	5.54|5.54	5.54|5.54	0.83059|0.83059	.|HECT (4);	0.043563|0.043563	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.59797|0.59797	0.2220|0.2220	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	.|D;B;P;B	.|0.76494	.|0.999;0.374;0.486;0.262	.|D;B;B;B	.|0.77004	.|0.989;0.181;0.39;0.152	T|T	0.55042|0.55042	-0.8202|-0.8202	8|10	0.87932|0.12766	D|T	0|0.61	.|.	14.864|14.864	0.70401|0.70401	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1198;795;1214;1142	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	E|R	805|1214;795;1142;1198	ENSP00000422455:K805E|ENSP00000424827:K1214R;ENSP00000410613:K795R;ENSP00000345530:K1142R;ENSP00000422705:K1198R	ENSP00000422455:K805E|ENSP00000345530:K1142R	K|K	-|-	1|2	0|0	NEDD4|NEDD4	53913574|53913574	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	8.036000|8.036000	0.88901|0.88901	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.308	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		13	59	13	59	---	---	---	---	C	56126282	T	C	56126282	3	2	311	1	0	0	0	0	1	0	0	0	10310	1841	64	2	334	2	NEDD4	15	56126282	Missense_Mutation	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08		56126282	46405110	22	11326										
IGF1R	3480	broad.mit.edu	37	chr15	99467806	99467806	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	caggaagtatggaggggccaAgctaaaccggctaaacccgg	14	10	0	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr15:99467806A>C	ENST00000268035.6	+	13	3286	c.2675A>C	c.(2674-2676)aAg>aCg	p.K892T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	892	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)"	GGAGGGGCCAAGCTAAACCGG	0.498																																						ENST00000268035.6																			0				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.(2674-2676)aAg>aCg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						150	143	146					15																	99467806		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.chr15:99467806A>C	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.2675A>C	15.37:g.99467806A>C	ENSP00000268035:p.Lys892Thr		Somatic				IGF1R_ENST00000558762.1_Missense_Mutation_p.K892T	p.K892T	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	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)		13	3286	+	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)		892			Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2675A>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557487	0.65425	.	.	ENSG00000140443	ENST00000268035	T	0.51325	0.71	5.92	2.46	0.29980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.32971	0.0847	N	0.05351	-0.065	0.45056	D	0.998074	P;B	0.45078	0.85;0.051	P;B	0.49140	0.601;0.038	T	0.08827	-1.0703	10	0.35671	T	0.21	.	9.8922	0.41296	0.8126:0.0:0.1874:0.0	.	892;892	C9J5X1;P08069	.;IGF1R_HUMAN	T	892	ENSP00000268035:K892T	ENSP00000268035:K892T	K	+	2	0	IGF1R	97285329	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.260000	0.51523	1.079000	0.41038	0.533000	0.62120	AAG		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		22	64	22	64	---	---	---	---	C	99467806	A	C	99467806	3	2	311	1	0	0	0	0	1	0	0	0	7571	72	3	5	2725	5	IGF1R	15	99467806	Missense_Mutation	SNP	A	TCGA-YL-A8HO-01A-11D-A364-08	43341524	99467806	3063586	23	11327										
NEURL4	84461	broad.mit.edu	37	chr17	7227518	7227519	+	Frame_Shift_Del	DEL	CT	CT	-													0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	acgttccaggcagcagggccCtgagtcatcccattgacaaa							TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr17:7227518_7227519delCT	ENST00000399464.2	-	11	1985_1986	c.1970_1971delAG	c.(1969-1971)cagfs	p.Q657fs	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	657	NHR 3. {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						CAGCAGGGCCCTGAGTCATCCC	0.653											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1969-1971)cagfs		neuralized E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	84461							g.chr17:7227518_7227519delCT		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.1970_1971delAG	17.37:g.7227518_7227519delCT	ENSP00000382390:p.Gln657fs		Somatic	OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	NEURL4_ENST00000570460.1_Frame_Shift_Del_p.Q635fs|NEURL4_ENST00000315614.7_Frame_Shift_Del_p.Q657fs	p.Q657fs	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					11	1985_1986	-								Q6GPI8|Q96IU9|Q9H0B0	Frame_Shift_Del	DEL	ENST00000399464.2	37	c.1970_1971delAG	CCDS42251.1																																																																																				0.653	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		7	57	7	57	---	---	---	---	-	7227519	CT	-	7227518	7	5	311	1	0	1	0	1	0	0	0	0	10347	680	24	0	2793	0	NEURL4	17	7227518	Frame_Shift_Del	DEL	CT	TCGA-YL-A8HO-01A-11D-A364-08		7227518	73967692	24	11328										
ZNF516	9658	broad.mit.edu	37	chr18	74091976	74091976	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	tgacccgtctggccctccgcTcccgtactggaagggaactc	11	16	1	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr18:74091976T>A	ENST00000443185.2	-	4	2411	c.2094A>T	c.(2092-2094)ggA>ggT	p.G698G	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	698					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)		GGCCCTCCGCTCCCGTACTGG	0.587																																						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.(2092-2094)ggA>ggT		zinc finger protein 516							55	57	57					18																	74091976		1976	4169	6145	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091976T>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.2094A>T	18.37:g.74091976T>A			Somatic				ZNF516_ENST00000524431.2_5'UTR	p.G698G	NM_014643.3	NP_055458.1	WXS	Illumina GAIIx	Phase_I	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2411	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	698						Silent	SNP	ENST00000443185.2	37	c.2094A>T																																																																																					0.587	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		6	36	6	36	---	---	---	---	A	74091976	T	A	74091976	2	1	311	1	0	0	0	0	0	0	0	1	17957	1538	54	5		5	ZNF516	18	74091976	Silent	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08		74091976	3985272	25	11329										
ZNF563	147837	broad.mit.edu	37	chr19	12430555	12430555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gatcttctccaggacaaatgCtgttgttcacaatactatct	6	10	4	0			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:12430555C>A	ENST00000293725.5	-	4	489	c.284G>T	c.(283-285)aGc>aTc	p.S95I	ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	95	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						AGGACAAATGCTGTTGTTCAC	0.398																																					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.(283-285)aGc>aTc		zinc finger protein 563							196	182	186					19																	12430555		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430555C>A	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.284G>T	19.37:g.12430555C>A	ENSP00000293725:p.Ser95Ile		Somatic				ZNF563_ENST00000595977.1_Missense_Mutation_p.S95I	p.S95I	NM_145276.2	NP_660319.1	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			4	489	-			95			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.284G>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383819	0.25031	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.14640	2.49	0.715	-0.657	0.11432	Krueppel-associated box (1);	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	0.999998	D;P	0.56287	0.975;0.725	P;B	0.47430	0.547;0.327	T	0.24621	-1.0155	9	0.49607	T	0.09	.	4.5201	0.11956	0.0:0.62:0.0:0.38	.	95;95	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	I	95	ENSP00000293725:S95I	ENSP00000293725:S95I	S	-	2	0	ZNF563	12291555	0.000000	0.05858	0.019000	0.16419	0.292000	0.27327	-0.134000	0.10436	-0.284000	0.09102	0.305000	0.20034	AGC		0.398	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	129	4	129	---	---	---	---	A	12430555	C	A	12430555	3	1	311	1	0	0	0	0	1	0	0	0	17991	797	28	3	1150	3	ZNF563	19	12430555	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		12430555	46698428	26	11330										
SIGLEC10	89790	broad.mit.edu	37	chr19	51918364	51918364	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	cccagcagcttcggggagtcTgaggggagggaggacaggac	19	9	1	1	rs562624986		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:51918364T>G	ENST00000339313.5	-	8	1447		c.e8-2		SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Splice_Site			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						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)		TCGGGGAGTCTGAGGGGAGGG	0.682																																						ENST00000356298.5																			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.e8-2		sialic acid binding Ig-like lectin 10							23	25	24					19																	51918364		2202	4300	6502	SO:0001630	splice_region_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918364T>G	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.1331-2A>C	19.37:g.51918364T>G			Somatic				SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron		NM_033130.4	NP_149121.2	WXS	Illumina GAIIx	Phase_I	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	1447	-		all_neural(266;0.0199)						A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Splice_Site	SNP	ENST00000339313.5	37		CCDS12832.1	.	.	.	.	.	.	.	.	.	.	T	7.442	0.640975	0.14386	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7877	0.46415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC10	56610176	1.000000	0.71417	0.426000	0.26672	0.061000	0.15899	3.682000	0.54656	1.813000	0.52934	0.459000	0.35465	.		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	Intron	3	14	3	14	---	---	---	---	G	51918364	T	G	51918364	5	3	311	1	0	0	0	0	0	0	1	0	14306	1594	55	5	780	5	SIGLEC10	19	51918364	Splice_Site	SNP	T	TCGA-YL-A8HO-01A-11D-A364-08	39487809	51918364	7210619	27	11331										
TRIM28	10155	broad.mit.edu	37	chr19	59060745	59060745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	gcccctcctactgccactgaGggccctgagaccaaacctgt	9	17	0	2	rs373664048		TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr19:59060745G>A	ENST00000253024.5	+	13	1999	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	TRIM28_ENST00000341753.6_Silent_p.E488E	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	570					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)		CTGCCACTGAGGGCCCTGAGA	0.637																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1708-1710)gaG>gaA		tripartite motif containing 28				0,4406		0,0,2203	112	123	119		1710	-1.6	0.5	19		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM28	NM_005762.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		570/836	59060745	1,13005	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.chr19:59060745G>A		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.1710G>A	19.37:g.59060745G>A			Somatic				TRIM28_ENST00000341753.6_Silent_p.E488E	p.E570E	NM_005762.2	NP_005753.1	WXS	Illumina GAIIx	Phase_I	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)	13	1999	+		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)	570					O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1710G>A	CCDS12985.1																																																																																				0.637	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		33	76	33	76	---	---	---	---	A	59060745	G	A	59060745	2	1	311	1	0	0	0	0	0	0	0	1	16499	991	35	2		2	TRIM28	19	59060745	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08	7142381	59060745	68238	28	11332										
CYP2D6	1565	broad.mit.edu	37	chr22	42525129	42525129	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	aggcccaagttgcgcaaggtGgagacggagaagcgcctctg	16	10	1	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chr22:42525129G>T	ENST00000360608.5	-	3	525	c.411C>A	c.(409-411)tcC>tcA	p.S137S	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.S137S|CYP2D6_ENST00000359033.4_Intron	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	137					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCGCAAGGTGGAGACGGAGA	0.687																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(409-411)tcC>tcA		cytochrome P450, family 2, subfamily D, polypeptide 6							23	28	27					22																	42525129		2035	4163	6198	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|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	g.chr22:42525129G>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.411C>A	22.37:g.42525129G>T			Somatic				CYP2D6_ENST00000389970.3_Silent_p.S137S|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000439129.1_RNA	p.S137S	NM_000106.5	NP_000097	WXS	Illumina GAIIx	Phase_I	Q6NWU0	Q6NWU0_HUMAN			3	525	-			137					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.411C>A	CCDS46721.1																																																																																				0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	33	3	33	---	---	---	---	T	42525129	G	T	42525129	2	4	311	1	0	0	0	0	0	0	0	1	4169	1335	47	1		1	CYP2D6	22	42525129	Silent	SNP	G	TCGA-YL-A8HO-01A-11D-A364-08		42525129	8779437	29	11333										
MXRA5	25878	broad.mit.edu	37	chrX	3240572	3240572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	ctttttaatcagtaaggtgtCttgagtgcttagactacttt	8	6	2	2			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:3240572C>T	ENST00000217939.6	-	5	3308	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1052						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)				AGTAAGGTGTCTTGAGTGCTT	0.458																																						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.(3154-3156)Gac>Aac		matrix-remodelling associated 5							173	151	159					X																	3240572		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240572C>T	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.3154G>A	X.37:g.3240572C>T	ENSP00000217939:p.Asp1052Asn		Somatic					p.D1052N	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	3308	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1052					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3154G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.387	-0.925343	0.02377	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.29	1.15	0.20763	.	1.143940	0.06774	U	0.784023	T	0.39172	0.1068	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.18871	-1.0323	10	0.06494	T	0.89	.	5.9233	0.19094	0.0:0.5163:0.3653:0.1184	.	1052	Q9NR99	MXRA5_HUMAN	N	1052	ENSP00000217939:D1052N	ENSP00000217939:D1052N	D	-	1	0	MXRA5	3250572	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.455000	0.21843	0.390000	0.25115	0.522000	0.50473	GAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	33	6	33	---	---	---	---	T	3240572	C	T	3240572	3	4	311	1	0	0	0	0	1	0	0	0	10003	913	32	2	5344	2	MXRA5	23	3240572	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08		3240572	152029988	30	11334										
MAP7D3	79649	broad.mit.edu	37	chrX	135314095	135314095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	1.69315068493151	2.82191780821918	1.20939334637965	1	1	0	aggcgacacgtccacgctcaCcacagggaatgagtccgtgc	12	14	1	1			TCGA-YL-A8HO-01A-11D-A364-08	TCGA-YL-A8HO-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0e886d-8203-4ef9-b1b2-ca28644c13d0	0b70f94f-f1c7-406b-b91b-3293c29e666b	g.chrX:135314095C>A	ENST00000316077.9	-	8	1241	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	341					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)					TCCACGCTCACCACAGGGAAT	0.572																																						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.(1021-1023)Gtg>Ttg		MAP7 domain containing 3							110	113	112					X																	135314095		2185	4251	6436	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314095C>A	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.1021G>T	X.37:g.135314095C>A	ENSP00000318086:p.Val341Leu		Somatic				MAP7D3_ENST00000370663.5_Missense_Mutation_p.V323L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.V306L	p.V341L	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1241	-	Acute lymphoblastic leukemia(192;0.000127)		341					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1021G>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287057	0.23478	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.19	3.31	0.37934	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.18013	0.025;0.021;0.005;0.004	B;B;B;B	0.23852	0.031;0.049;0.01;0.022	T	0.36311	-0.9753	9	0.24483	T	0.36	-0.2888	9.9478	0.41621	0.0:0.8906:0.0:0.1094	.	323;300;341;306	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	306;341;323;300	ENSP00000359695:V306L;ENSP00000318086:V341L;ENSP00000359697:V323L;ENSP00000359694:V300L	ENSP00000318086:V341L	V	-	1	0	MAP7D3	135141761	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.235000	0.09016	0.840000	0.34995	0.600000	0.82982	GTG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			8	35	8	35	---	---	---	---	A	135314095	C	A	135314095	3	1	311	1	0	0	0	0	1	0	0	0	9269	507	18	3	1653	3	MAP7D3	23	135314095	Missense_Mutation	SNP	C	TCGA-YL-A8HO-01A-11D-A364-08	132073523	135314095	19956465	31	11335										
CDC20	991	broad.mit.edu	37	chr1	43825955	43825955	+	Frame_Shift_Del	DEL	C	C	-													0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	agtgcaagctctggtgacatCctgcagcttttgcaaatgga							TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:43825955delC	ENST00000372462.1	+	5	851	c.648delC	c.(646-648)atcfs	p.I216fs	CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	216					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)				CTGGTGACATCCTGCAGCTTT	0.537																																					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.(646-648)atcfs		cell division cycle 20							132	129	130					1																	43825955		2203	4300	6503	SO:0001589	frameshift_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.chr1:43825955delC	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.648delC	1.37:g.43825955delC	ENSP00000361540:p.Ile216fs		Somatic				CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|CDC20_ENST00000478882.1_3'UTR	p.I216fs			WXS	Illumina GAIIx	Phase_I	Q12834	CDC20_HUMAN			5	851	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	216					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	ENST00000372462.1	37	c.648delC	CCDS484.1																																																																																				0.537	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		26	46	26	46	---	---	---	---	-	43825955	C	-	43825955	7	5	312	1	0	1	0	1	0	0	0	0	3059	845	30	0	666	0	CDC20	1	43825955	Frame_Shift_Del	DEL	C	TCGA-YL-A8S8-01A-11D-A377-08		43825955	205424666	1	11336										
AMPD1	270	broad.mit.edu	37	chr1	115222328	115222328	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	gcgccggtgggtataggtctTactgtgaaaaataaaatcac	11	7	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:115222328T>C	ENST00000520113.2	-	7	883	c.868A>G	c.(868-870)Aag>Gag	p.K290E	AMPD1_ENST00000369538.3_Splice_Site_p.K286E|AMPD1_ENST00000353928.6_Splice_Site_p.K257E			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					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)	GTATAGGTCTTACTGTGAAAA	0.398																																						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.(856-858)Aag>Gag		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						81	88	85					1																	115222328		2203	4300	6503	SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222328T>C	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.867-1A>G	1.37:g.115222328T>C			Somatic				AMPD1_ENST00000520113.2_Splice_Site_p.K290E|AMPD1_ENST00000353928.6_Splice_Site_p.K257E	p.K286E	NM_001172626.1	NP_001166097.1	WXS	Illumina GAIIx	Phase_I	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)	6	903	-	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)	257					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	ENST00000520113.2	37	c.856A>G	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	33	5.238876	0.95240	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.94220	0.7466	10	0.87932	D	0	-25.1626	16.1485	0.81594	0.0:0.0:0.0:1.0	.	286;257	Q5TF02;P23109	.;AMPD1_HUMAN	E	290;286;257	ENSP00000430075:K290E;ENSP00000358551:K286E;ENSP00000316520:K257E	ENSP00000316520:K257E	K	-	1	0	AMPD1	115023851	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	AAG		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	32	64	32	64	---	---	---	---	C	115222328	T	C	115222328	5	2	312	1	0	0	0	0	0	0	1	0	585	1768	61	2	1514	2	AMPD1	1	115222328	Splice_Site	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08	71396373	115222328	134028293	2	11337										
RUSC1	23623	broad.mit.edu	37	chr1	155296881	155296881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	gggaagactatttggagtgcCtgggggccccgcagaaaatg	16	8	0	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:155296881C>T	ENST00000368352.5	+	8	2523	c.2372C>T	c.(2371-2373)cCt>cTt	p.P791L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	791					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTGGAGTGCCTGGGGGCCCC	0.562																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2371-2373)cCt>cTt		RUN and SH3 domain containing 1							41	50	47					1																	155296881		2160	4274	6434	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296881C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2372C>T	1.37:g.155296881C>T	ENSP00000357336:p.Pro791Leu		Somatic				RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L	p.P791L	NM_001105203.1	NP_001098673.1	WXS	Illumina GAIIx	Phase_I	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		791					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2372C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257787	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.32023	1.92;1.9;1.47;1.49;1.49	4.9	3.99	0.46301	.	33.929500	0.00520	N	0.000191	T	0.34948	0.0915	L	0.57536	1.79	0.43050	D	0.994652	B;P;B;D;P;B;B	0.57257	0.418;0.554;0.418;0.979;0.736;0.128;0.22	B;B;B;P;B;B;B	0.54270	0.069;0.145;0.069;0.747;0.159;0.046;0.05	T	0.14008	-1.0488	10	0.66056	D	0.02	-7.4468	10.5429	0.45043	0.0:0.9092:0.0:0.0908	.	289;322;322;216;381;290;791	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	L	685;791;381;322;322	ENSP00000357338:P685L;ENSP00000357336:P791L;ENSP00000357331:P381L;ENSP00000357333:P322L;ENSP00000292254:P322L	ENSP00000292254:P322L	P	+	2	0	RUSC1	153563505	0.442000	0.25633	0.976000	0.42696	0.008000	0.06430	0.970000	0.29383	1.439000	0.47511	-0.218000	0.12543	CCT		0.562	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			20	41	20	41	---	---	---	---	T	155296881	C	T	155296881	3	4	312	1	0	0	0	0	1	0	0	0	13750	681	24	2	2529	2	RUSC1	1	155296881	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	40074553	155296881	93953740	3	11338										
NSL1	25936	broad.mit.edu	37	chr1	212964929	212964930	+	Frame_Shift_Ins	INS	-	-	TT													0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ccggcagagcgtccccgagcINSttttgcacgaagcggccgca							TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:212964929_212964930insTT	ENST00000366977.3	-	1	194_195	c.176_177insAA	c.(175-177)aagfs	p.K59fs	TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	59					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)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CGTCCCCGAGCTTTTGCACGAA	0.609																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(175-177)aagfs		NSL1, MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964929_212964930insTT	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.175_176dupAA	1.37:g.212964932_212964933dupTT	ENSP00000355944:p.Lys59fs		Somatic				NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs	p.K59fs	NM_015471.3	NP_056286.3	WXS	Illumina GAIIx	Phase_I	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	194_195	-			59					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Frame_Shift_Ins	INS	ENST00000366977.3	37	c.176_177insAA	CCDS1509.1																																																																																				0.609	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		32	165	32	165	---	---	---	---	TT	212964930	-	TT	212964929	7	5	312	1	0	1	1	0	0	0	0	0	10673	796	28	0	781	0	NSL1	1	212964929	Frame_Shift_Ins	INS	-	TCGA-YL-A8S8-01A-11D-A377-08	57668048	212964929	36285692	4	11339										
ARF1	375	broad.mit.edu	37	chr1	228284842	228284842	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	aacatcttcgccaacctcttCaagggcctttttggcaaaaa	6	12	3	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:228284842C>T	ENST00000541182.1	+	2	289	c.27C>T	c.(25-27)ttC>ttT	p.F9F	MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	9					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)				CCAACCTCTTCAAGGGCCTTT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(25-27)ttC>ttT		ADP-ribosylation factor 1							118	98	105					1																	228284842		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:228284842C>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.27C>T	1.37:g.228284842C>T			Somatic				ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR	p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	WXS	Illumina GAIIx	Phase_I	P84077	ARF1_HUMAN			2	289	+		Prostate(94;0.0405)	9					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.27C>T	CCDS1565.1																																																																																				0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		28	68	28	68	---	---	---	---	T	228284842	C	T	228284842	2	4	312	1	0	0	0	0	0	0	0	1	844	825	29	2		2	ARF1	1	228284842	Silent	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	15319913	228284842	20965779	5	11340										
GALNT14	79623	broad.mit.edu	37	chr2	31155004	31155004	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ccggaagacgtgccccactcGgctgcaggggacgatctcta	13	14	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:31155004G>A	ENST00000349752.5	-	10	1627	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	330	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(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCCACTCGGCTGCAGGGG	0.577																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(988-990)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							96	89	91					2																	31155004		2203	4300	6503	SO:0001587	stop_gained	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31155004G>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.988C>T	2.37:g.31155004G>A	ENSP00000288988:p.Arg330*		Somatic				GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR	p.R330*	NM_024572.3	NP_078848.2	WXS	Illumina GAIIx	Phase_I	Q96FL9	GLT14_HUMAN			10	1627	-	Acute lymphoblastic leukemia(172;0.155)		330			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Nonsense_Mutation	SNP	ENST00000349752.5	37	c.988C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	35	5.490456	0.96339	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	4.98	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8242	0.63340	0.0:0.0:0.6012:0.3988	.	.	.	.	X	330;335;310;297;295;297	.	ENSP00000314500:R335X	R	-	1	2	GALNT14	31008508	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	2.440000	0.44855	0.111000	0.17947	-0.310000	0.09108	CGA		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		20	38	20	38	---	---	---	---	A	31155004	G	A	31155004	4	1	312	1	0	0	0	0	0	1	0	0	6212	1124	39	2	694	2	GALNT14	2	31155004	Nonsense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		31155004	212044369	6	11341										
LOXL3	84695	broad.mit.edu	37	chr2	74762802	74762802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	cagtcatccccacagatgagGccccagcgaaggggcccagg	13	15	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:74762802G>A	ENST00000264094.3	-	8	1400	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.G298G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	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						CACAGATGAGGCCCCAGCGAA	0.642																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1327-1329)ggC>ggT		lysyl oxidase-like 3							55	66	62					2																	74762802		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762802G>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.1329C>T	2.37:g.74762802G>A			Somatic				LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	p.G443G	NM_032603.2	NP_115992.1	WXS	Illumina GAIIx	Phase_I	P58215	LOXL3_HUMAN			8	1400	-			443			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1329C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587036	0.13749	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.02	-0.991	0.10235	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	1.4819	0.02438	0.4103:0.138:0.3099:0.1418	.	.	.	.	S	170	.	.	P	-	1	0	LOXL3	74616310	0.001000	0.12720	0.996000	0.52242	0.984000	0.73092	-0.646000	0.05403	-0.084000	0.12595	-0.253000	0.11424	CCT		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		45	54	45	54	---	---	---	---	A	74762802	G	A	74762802	2	1	312	1	0	0	0	0	0	0	0	1	8901	1190	42	2		2	LOXL3	2	74762802	Silent	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	43607798	74762802	168436571	7	11342										
FANCD2	2177	broad.mit.edu	37	chr3	10128872	10128872	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	agcattcccagtttccagtgTgctctttatctcatcagact	6	12	3	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:10128872T>A	ENST00000419585.1	+	34	3551	c.3390T>A	c.(3388-3390)tgT>tgA	p.C1130*	FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1130					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)		GTTTCCAGTGTGCTCTTTATC	0.378			"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.(3388-3390)tgT>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							200	196	197					3																	10128872		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128872T>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.3390T>A	3.37:g.10128872T>A	ENSP00000398754:p.Cys1130*		Somatic				FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*	p.C1130*	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3483	+			1130					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.3390T>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	42	9.335017	0.99140	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.54	5.54	0.83059	.	0.203832	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1371	0.53977	0.0:0.0:0.0:1.0	.	.	.	.	X	1130	.	ENSP00000287647:C1130X	C	+	3	2	FANCD2	10103872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.392000	0.20801	2.117000	0.64856	0.529000	0.55759	TGT		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			19	56	19	56	---	---	---	---	A	10128872	T	A	10128872	4	1	312	1	0	0	0	0	0	1	0	0	5665	1702	59	5	3520	5	FANCD2	3	10128872	Nonsense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		10128872	187893558	8	11343										
CCDC36	339834	broad.mit.edu	37	chr3	49294572	49294572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	cccaagacaactggctacttTccagcagttcccagggggac	10	14	0	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49294572T>C	ENST00000438782.1	+	8	1878	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P|CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	548										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTGGCTACTTTCCAGCAGTTC	0.522																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1642-1644)Tcc>Ccc		coiled-coil domain containing 36							73	77	76					3																	49294572		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294572T>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"cancer/testis antigen 74"						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1642T>C	3.37:g.49294572T>C	ENSP00000391788:p.Ser548Pro		Somatic				CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P	p.S548P			WXS	Illumina GAIIx	Phase_I	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1878	+			548					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1642T>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663147	0.67700	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.47869	0.83;0.83;0.83	3.97	3.97	0.46021	.	0.644830	0.13419	N	0.389303	T	0.46580	0.1400	N	0.17082	0.46	0.30646	N	0.755939	D	0.69078	0.997	D	0.63793	0.918	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.83	9.4429	0.38679	0.0:0.0:0.0:1.0	.	548	Q8IYA8	CCD36_HUMAN	P	548;548;548;528	ENSP00000296449:S548P;ENSP00000391788:S548P;ENSP00000407837:S548P	ENSP00000296449:S548P	S	+	1	0	CCDC36	49269576	0.018000	0.18449	0.011000	0.14972	0.937000	0.57800	0.206000	0.17375	1.791000	0.52520	0.459000	0.35465	TCC		0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		26	42	26	42	---	---	---	---	C	49294572	T	C	49294572	3	2	312	1	0	0	0	0	1	0	0	0	2808	1783	62	2	1668	2	CCDC36	3	49294572	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08	39165700	49294572	148727858	9	11344										
FBXO38	81545	broad.mit.edu	37	chr5	147803625	147803626	+	Frame_Shift_Ins	INS	-	-	A													0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	tggccgagagtggaaataatINSactccagctcacagccaggc							TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:147803625_147803626insA	ENST00000340253.5	+	13	1851_1852	c.1683_1684insA	c.(1684-1686)actfs	p.T562fs	FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	562					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)			GTGGAAATAATACTCCAGCTCA	0.426																																						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.(1684-1686)actfs		F-box protein 38																																				SO:0001589	frameshift_variant	81545					cytoplasm|nucleus		g.chr5:147803625_147803626insA	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.1684dupA	5.37:g.147803626_147803626dupA	ENSP00000342023:p.Thr562fs		Somatic				FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs	p.T562fs			WXS	Illumina GAIIx	Phase_I	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1851_1852	+			562					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Ins	INS	ENST00000340253.5	37	c.1683_1684insA																																																																																					0.426	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		36	44	36	44	---	---	---	---	A	147803626	-	A	147803625	7	5	312	1	0	1	1	0	0	0	0	0	5746	1403	49	0	1729	0	FBXO38	5	147803625	Frame_Shift_Ins	INS	-	TCGA-YL-A8S8-01A-11D-A377-08		147803625	33111635	10	11345										
LTC4S	4056	broad.mit.edu	37	chr5	179221091	179221091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ccgacggtaccatgaaggacGaggtagctctactggctgct	13	11	1	1	rs370555009		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:179221091G>A	ENST00000292596.10	+	1	105	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	4					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	CATGAAGGACGAGGTAGCTCT	0.617													G|||	1	0.000199681	0	0	5008	,	,		19946	0.001		0	False		,,,				2504	0					ENST00000292596.10																			0				haematopoietic_and_lymphoid_tissue(1)	1	GRCh37	CM056643	LTC4S	M		c.(10-12)Gag>Aag		leukotriene C4 synthase	Glutathione(DB00143)	G	LYS/GLU	1,4405		0,1,2202	163	103	124		10	3	0.4	5		124	0,8600		0,0,4300	no	missense	LTC4S	NM_145867.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	4/151	179221091	1,13005	2203	4300	6503	SO:0001583	missense	4056				hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding	g.chr5:179221091G>A	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.10G>A	5.37:g.179221091G>A	ENSP00000292596:p.Glu4Lys		Somatic				MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	p.E4K	NM_145867.1	NP_665874.1	WXS	Illumina GAIIx	Phase_I	Q16873	LTC4S_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	105	+	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	4					Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	ENST00000292596.10	37	c.10G>A	CCDS34316.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092277	0.20471	2.27E-4	0.0	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.70045	-0.45;-0.27	3.9	3.02	0.34903	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.319966	0.28499	U	0.015140	T	0.53899	0.1825	L	0.54323	1.7	0.26611	N	0.972832	P	0.38078	0.617	B	0.31016	0.123	T	0.46857	-0.9161	10	0.36615	T	0.2	-1.1156	8.8056	0.34936	0.1099:0.0:0.8901:0.0	.	4	Q16873	LTC4S_HUMAN	K	4	ENSP00000292596:E4K;ENSP00000385627:E4K	ENSP00000292596:E4K	E	+	1	0	LTC4S	179153697	0.978000	0.34361	0.390000	0.26220	0.081000	0.17604	3.473000	0.53122	0.754000	0.32968	0.462000	0.41574	GAG		0.617	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317536.2	NM_000897		9	28	9	28	---	---	---	---	A	179221091	G	A	179221091	3	1	312	1	0	0	0	0	1	0	0	0	9078	1059	37	2	12	2	LTC4S	5	179221091	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	31417466	179221091	1694169	11	11346										
TNXB	7148	broad.mit.edu	37	chr6	32017326	32017326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ctcctcaggggcctccggggCctcagtgctgggttctgtgg	16	13	3	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:32017326C>A	ENST00000375244.3	-	28	9679	c.9478G>T	c.(9478-9480)Gcc>Tcc	p.A3160S	TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S			P22105	TENX_HUMAN	tenascin XB	3205	Fibronectin type-III 23. {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						GCCTCCGGGGCCTCAGTGCTG	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9478-9480)Gcc>Tcc		tenascin XB							37	41	40					6																	32017326		1164	2504	3668	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.chr6:32017326C>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.9478G>T	6.37:g.32017326C>A	ENSP00000364393:p.Ala3160Ser		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S	p.A3160S			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			28	9679	-			3205			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9478G>T		.	.	.	.	.	.	.	.	.	.	C	13.29	2.193524	0.38707	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.5;0.35	3.87	3.87	0.44632	.	0.000000	0.46758	D	0.000269	T	0.54240	0.1846	M	0.79805	2.47	0.22571	N	0.998972	D	0.56287	0.975	P	0.62560	0.904	T	0.47799	-0.9089	10	0.18276	T	0.48	.	11.246	0.48998	0.0:1.0:0.0:0.0	.	3158	P22105-3	.	S	3160;3158	ENSP00000364393:A3160S;ENSP00000364396:A3158S	ENSP00000364393:A3160S	A	-	1	0	TNXB	32125304	0.378000	0.25114	1.000000	0.80357	0.084000	0.17831	0.858000	0.27845	2.006000	0.58801	0.306000	0.20318	GCC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	30	10	30	---	---	---	---	A	32017326	C	A	32017326	3	1	312	1	0	0	0	0	1	0	0	0	16343	739	26	3	5309	3	TNXB	6	32017326	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		32017326	139097741	12	11347										
MANEA	79694	broad.mit.edu	37	chr6	96054103	96054103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ttctatcacctcttttaatgAgtggcatgaaggaactcaga	8	8	4	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:96054103A>G	ENST00000358812.4	+	5	1345	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTTTTAATGAGTGGCATGAA	0.418																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1210-1212)gAg>gGg		mannosidase, endo-alpha							60	61	61					6																	96054103		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054103A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1211A>G	6.37:g.96054103A>G	ENSP00000351669:p.Glu404Gly		Somatic					p.E404G	NM_024641.3	NP_078917.2	WXS	Illumina GAIIx	Phase_I	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1345	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	404			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1211A>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814975	0.90790	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86549	0.1833	9	0.87932	D	0	-18.1636	16.0034	0.80327	1.0:0.0:0.0:0.0	.	404	Q5SRI9	MANEA_HUMAN	G	404	.	ENSP00000351669:E404G	E	+	2	0	MANEA	96160824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	GAG		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		15	33	15	33	---	---	---	---	G	96054103	A	G	96054103	3	3	312	1	0	0	0	0	1	0	0	0	9221	304	11	2	1225	2	MANEA	6	96054103	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	64036777	96054103	75060964	13	11348										
CTAGE9	643854	broad.mit.edu	37	chr6	132032076	132032076	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ctcatctggtctcatactctCaggtagtgctgccacaactc	7	14	4	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:132032076C>A	ENST00000314099.8	-	1	130	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	28						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTCATACTCTCAGGTAGTGCT	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(82-84)Gag>Tag		CTAGE family, member 9							105	183	165					6																	132032076		482	1572	2054	SO:0001587	stop_gained	643854					integral to membrane		g.chr6:132032076C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.82G>T	6.37:g.132032076C>A	ENSP00000395587:p.Glu28*		Somatic				ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	p.E28*	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	WXS	Illumina GAIIx	Phase_I	A4FU28	CTGE9_HUMAN			1	130	-			28						Nonsense_Mutation	SNP	ENST00000314099.8	37	c.82G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.614956	0.28712	.	.	ENSG00000236761	ENST00000314099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	28	.	ENSP00000395587:E28X	E	-	1	0	CTAGE9	132073769	1.000000	0.71417	0.007000	0.13788	0.000000	0.00434	0.559000	0.23485	0.497000	0.27926	0.000000	0.15137	GAG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		16	41	16	41	---	---	---	---	A	132032076	C	A	132032076	4	1	312	1	0	0	0	0	0	1	0	0	3996	835	29	3	2255	3	CTAGE9	6	132032076	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08	35977973	132032076	39082991	14	11349										
C7orf60	154743	broad.mit.edu	37	chr7	112462373	112462373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	aagcatctatagcatcctgtGcaagctggagtggttgctga	12	8	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:112462373G>A	ENST00000297145.4	-	5	809	c.644C>T	c.(643-645)gCa>gTa	p.A215V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	215							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCATCCTGTGCAAGCTGGAG	0.388																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gCa>gTa		chromosome 7 open reading frame 60							43	44	44					7																	112462373		1860	4102	5962	SO:0001583	missense	154743							g.chr7:112462373G>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.644C>T	7.37:g.112462373G>A	ENSP00000297145:p.Ala215Val		Somatic					p.A215V	NM_152556.2	NP_689769.2	WXS	Illumina GAIIx	Phase_I	Q1RMZ1	CG060_HUMAN			5	809	-			215					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.644C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129141	0.77549	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.75020	0.985;0.829	T	0.78214	-0.2291	9	0.72032	D	0.01	-10.0621	20.0044	0.97430	0.0:0.0:1.0:0.0	.	162;215	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	215;197;162	.	ENSP00000297145:A215V	A	-	2	0	C7orf60	112249609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GCA		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		20	31	20	31	---	---	---	---	A	112462373	G	A	112462373	3	1	312	1	0	0	0	0	1	0	0	0	2407	1319	46	2	577	2	C7orf60	7	112462373	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		112462373	46676290	15	11350										
DCLRE1C	64421	broad.mit.edu	37	chr10	14995921	14995921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ctttgtggcagtgggacaggAagtaggcgcgggccctcagg	18	9	1	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr10:14995921A>G	ENST00000378278.2	-	1	126	c.89T>C	c.(88-90)tTc>tCc	p.F30S	DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.F30S|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	30					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						GTGGGACAGGAAGTAGGCGCG	0.652								Non-homologous end-joining																														ENST00000378289.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(88-90)tTc>tCc	Non-homologous end-joining	DNA cross-link repair 1C							56	60	58					10																	14995921		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995921A>G	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.89T>C	10.37:g.14995921A>G	ENSP00000367527:p.Phe30Ser		Somatic				DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR	p.F30S			WXS	Illumina GAIIx	Phase_I	Q96SD1	DCR1C_HUMAN			1	510	-			30					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.89T>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	A	36	5.948575	0.97134	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77229	-1.08;-1.08	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.92182	0.7521	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94606	0.7800	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	30;30	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	S	30	ENSP00000367538:F30S;ENSP00000367527:F30S	ENSP00000367527:F30S	F	-	2	0	DCLRE1C	15035927	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.148000	0.89630	2.317000	0.78254	0.459000	0.35465	TTC		0.652	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		11	29	11	29	---	---	---	---	G	14995921	A	G	14995921	3	3	312	1	0	0	0	0	1	0	0	0	4296	246	9	2	2045	2	DCLRE1C	10	14995921	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08		14995921	120538826	16	11351										
CD81	975	broad.mit.edu	37	chr11	2416275	2416275	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	gggctttgtcaacaaggaccAggtgagcctgggtgtgcagg	17	8	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:2416275A>G	ENST00000263645.5	+	4	609	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000492627.1_Splice_Site_p.Q47R|CD81_ENST00000481687.1_Splice_Site_p.Q124R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	118					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)		AACAAGGACCAGGTGAGCCTG	0.662																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(352-354)cAg>cGg		CD81 molecule							57	54	55					11																	2416275		2201	4297	6498	SO:0001630	splice_region_variant	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.chr11:2416275A>G		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.354+1A>G	11.37:g.2416275A>G			Somatic				CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000481687.1_Splice_Site_p.Q124R	p.Q118R	NM_004356.3	NP_004347.1	WXS	Illumina GAIIx	Phase_I	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	609	+		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)	118					P18582|Q5U0J6	Splice_Site	SNP	ENST00000263645.5	37	c.353A>G	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.23|17.23	3.335520|3.335520	0.60853|0.60853	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000475945;ENST00000530648;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687|ENST00000464784	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|.	3.52|3.52	3.52|3.52	0.40303|0.40303	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.147233|.	0.46442|.	D|.	0.000297|.	T|T	0.56790|0.56790	0.2009|0.2009	L|L	0.43646|0.43646	1.37|1.37	0.48975|0.48975	D|D	0.999738|0.999738	P;P|.	0.41947|.	0.766;0.533|.	P;B|.	0.45071|.	0.468;0.334|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|5	0.37606|.	T|.	0.19|.	.|.	11.3267|11.3267	0.49452|0.49452	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156;118|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	R|G	47;47;118;113;47;107;156;111;47;124|103	ENSP00000433178:Q47R;ENSP00000432723:Q47R;ENSP00000263645:Q118R;ENSP00000435633:Q113R;ENSP00000437242:Q47R;ENSP00000433767:Q107R;ENSP00000370424:Q156R;ENSP00000432249:Q111R;ENSP00000431780:Q47R;ENSP00000432033:Q124R|.	ENSP00000263645:Q118R|.	Q|R	+|+	2|1	0|2	CD81|CD81	2372851|2372851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.287000|3.287000	0.51732|0.51732	1.621000|1.621000	0.50320|0.50320	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.662	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356	Missense_Mutation	3	40	3	40	---	---	---	---	G	2416275	A	G	2416275	5	3	312	1	0	0	0	0	0	0	1	0	3039	202	7	2	367	2	CD81	11	2416275	Splice_Site	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08		2416275	132590241	17	11352										
SBF2	81846	broad.mit.edu	37	chr11	9838385	9838385	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	agtgagaaaaaagaaatcttAcccttagttgcgacttttca	7	7	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:9838385A>G	ENST00000256190.8	-	29	4116		c.e29+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						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)		AAGAAATCTTACCCTTAGTTG	0.403																																						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.e29+1		SET binding factor 2							73	61	65					11																	9838385		2201	4294	6495	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838385A>G	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.3978+1T>C	11.37:g.9838385A>G			Somatic						NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4116	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37		CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409863	0.83340	.	.	ENSG00000133812	ENST00000256190;ENST00000530741	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5179	0.75840	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9794961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.071000	0.62044	0.460000	0.39030	.		0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	Intron	14	34	14	34	---	---	---	---	G	9838385	A	G	9838385	5	3	312	1	0	0	0	0	0	0	1	0	13859	405	14	2	1617	2	SBF2	11	9838385	Splice_Site	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	7422110	9838385	125168131	18	11353										
RAG1	5896	broad.mit.edu	37	chr11	36595191	36595191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	accttcgacatctctgccgcAtctgtgggaattcttttaga	8	11	3	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:36595191A>G	ENST00000299440.5	+	2	449	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	113	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)				TCTCTGCCGCATCTGTGGGAA	0.443									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.(337-339)Atc>Gtc		recombination activating gene 1							112	107	108					11																	36595191		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.chr11:36595191A>G	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.337A>G	11.37:g.36595191A>G	ENSP00000299440:p.Ile113Val		Somatic					p.I113V	NM_000448.2	NP_000439	WXS	Illumina GAIIx	Phase_I	P15918	RAG1_HUMAN			2	449	+	all_lung(20;0.226)	all_hematologic(20;0.107)	113			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.337A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473434	0.43942	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73897	-0.79;-0.79	6.14	6.14	0.99180	.	0.120828	0.56097	D	0.000035	D	0.83575	0.5284	M	0.75150	2.29	0.42510	D	0.992965	P	0.42409	0.779	P	0.53266	0.722	D	0.85289	0.1066	10	0.87932	D	0	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	113	P15918	RAG1_HUMAN	V	113	ENSP00000434610:I113V;ENSP00000299440:I113V	ENSP00000299440:I113V	I	+	1	0	RAG1	36551767	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.214000	0.42853	2.367000	0.80283	0.529000	0.55759	ATC		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		29	37	29	37	---	---	---	---	G	36595191	A	G	36595191	3	3	312	1	0	0	0	0	1	0	0	0	13003	217	8	2	339	2	RAG1	11	36595191	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	26756806	36595191	98411325	19	11354										
CACNA1C	775	broad.mit.edu	37	chr12	2622020	2622020	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	aaggccaaggcccggggagaTttccagaagctgcgggagaa	16	9	0	3			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr12:2622020T>A	ENST00000347598.4	+	9	1260	c.1260T>A	c.(1258-1260)gaT>gaA	p.D420E	CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					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)	CCCGGGGAGATTTCCAGAAGC	0.567																																						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.(1258-1260)gaT>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						29	35	33					12																	2622020		2143	4267	6410	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.chr12:2622020T>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.1260T>A	12.37:g.2622020T>A	ENSP00000266376:p.Asp420Glu		Somatic				CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E	p.D420E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	WXS	Illumina GAIIx	Phase_I	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	9	1525	+			420					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.1260T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957016	0.53293	.	.	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	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.67	-1.97	0.07503	.	0.046376	0.85682	D	0.000000	D	0.95818	0.8639	L	0.31476	0.935	0.46725	D	0.999171	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D	0.76494	0.141;0.999;0.996;0.169;0.957;0.998;0.996;0.998;0.014;0.907;0.998;0.996;0.074;0.996;0.994;0.996;0.996;0.699;0.993;0.494;0.996;0.998;0.998;0.996;0.996	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D	0.81914	0.155;0.994;0.99;0.084;0.96;0.995;0.99;0.995;0.174;0.664;0.995;0.99;0.219;0.995;0.978;0.99;0.987;0.174;0.975;0.174;0.987;0.995;0.995;0.987;0.99	D	0.92073	0.5666	10	0.24483	T	0.36	.	11.8398	0.52346	0.0:0.5324:0.0:0.4676	.	49;420;417;420;420;420;420;420;420;420;420;420;391;420;420;420;420;420;420;420;420;420;420;420;420	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;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;261	ENSP00000336982:D420E;ENSP00000382563:D420E;ENSP00000437936:D420E;ENSP00000382552:D420E;ENSP00000382547:D420E;ENSP00000382506:D420E;ENSP00000382530:D420E;ENSP00000382546:D420E;ENSP00000382500:D420E;ENSP00000382549:D420E;ENSP00000266376:D420E;ENSP00000382515:D420E;ENSP00000382510:D420E;ENSP00000341092:D420E;ENSP00000382537:D420E;ENSP00000329877:D420E;ENSP00000382557:D420E;ENSP00000385724:D420E;ENSP00000382512:D420E;ENSP00000382542:D420E;ENSP00000382526:D420E;ENSP00000385896:D420E;ENSP00000382504:D420E	ENSP00000323129:D261E	D	+	3	2	CACNA1C	2492281	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.829000	0.27449	-0.196000	0.10366	-0.290000	0.09829	GAT		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	14	3	14	---	---	---	---	A	2622020	T	A	2622020	3	1	312	1	0	0	0	0	1	0	0	0	2540	1490	52	5	1402	5	CACNA1C	12	2622020	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		2622020	131229875	20	11355										
CHTF18	63922	broad.mit.edu	37	chr16	844192	844192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	tctgcgggcgagcacgagaaGgtggtccaggtacctgtctt	15	10	2	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:844192G>T	ENST00000262315.9	+	15	2004	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	CHTF18_ENST00000317063.6_Missense_Mutation_p.K856N|CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	647					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACGAGAAGGTGGTCCAGG	0.682																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2566-2568)aaG>aaT		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							37	43	41					16																	844192		2155	4258	6413	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:844192G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1941G>T	16.37:g.844192G>T	ENSP00000262315:p.Lys647Asn		Somatic				CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N	p.K856N			WXS	Illumina GAIIx	Phase_I	Q8WVB6	CTF18_HUMAN			17	2568	+		Hepatocellular(780;0.00335)	647					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2568G>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281200	0.59758	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.13420	2.62;2.6;2.59	5.47	3.49	0.39957	.	0.093553	0.64402	D	0.000001	T	0.40196	0.1107	M	0.88979	2.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.39800	-0.9596	10	0.56958	D	0.05	-46.4313	10.2235	0.43212	0.1666:0.0:0.8334:0.0	.	675;647	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	N	856;675;647	ENSP00000313029:K856N;ENSP00000406252:K675N;ENSP00000262315:K647N	ENSP00000262315:K647N	K	+	3	2	CHTF18	784193	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.612000	0.24283	1.318000	0.45170	0.655000	0.94253	AAG		0.682	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	24	10	24	---	---	---	---	T	844192	G	T	844192	3	4	312	1	0	0	0	0	1	0	0	0	3414	991	35	1	1999	1	CHTF18	16	844192	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		844192	89510561	21	11356										
SRCAP	10847	broad.mit.edu	37	chr16	30722964	30722964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	aggctctgggagcagtgaagAtgaggatgaagatgaggttg	18	3	1	6			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:30722964A>G	ENST00000262518.4	+	11	1776	c.1391A>G	c.(1390-1392)gAt>gGt	p.D464G	SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	464	Glu-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)			AGCAGTGAAGATGAGGATGAA	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.(1390-1392)gAt>gGt		Snf2-related CREBBP activator protein							106	105	106					16																	30722964		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.chr16:30722964A>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.1391A>G	16.37:g.30722964A>G	ENSP00000262518:p.Asp464Gly		Somatic				SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G	p.D464G	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		11	1776	+			464			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1391A>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915738	0.17907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.92;-2.89;-2.89	4.32	4.32	0.51571	.	0.846637	0.10461	N	0.671966	D	0.85957	0.5818	N	0.24115	0.695	0.25307	N	0.989238	B;B;B	0.21606	0.017;0.058;0.01	B;B;B	0.20767	0.031;0.031;0.014	T	0.76421	-0.2965	10	0.44086	T	0.13	-0.7918	9.6343	0.39798	0.8246:0.1754:0.0:0.0	.	464;464;464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	464	ENSP00000262518:D464G;ENSP00000378499:D464G;ENSP00000343042:D464G	ENSP00000262518:D464G	D	+	2	0	SRCAP	30630465	0.987000	0.35691	0.813000	0.32504	0.463000	0.32649	3.082000	0.50128	1.937000	0.56155	0.460000	0.39030	GAT		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		21	68	21	68	---	---	---	---	G	30722964	A	G	30722964	3	3	312	1	0	0	0	0	1	0	0	0	15134	333	12	2	1425	2	SRCAP	16	30722964	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	29878772	30722964	59631789	22	11357										
CCL15	6359	broad.mit.edu	37	chr17	34324881	34324881	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	ttggcacagacttgccgcccCttcttggtgaggaatctggg	13	11	2	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:34324881C>A	ENST00000354059.4	-	4	816	c.264G>T	c.(262-264)aaG>aaT	p.K88N	CCL14_ENST00000536149.1_De_novo_Start_OutOfFrame|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	88					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGCCGCCCCTTCTTGGTGA	0.507																																						ENST00000536149.1																			0				large_intestine(1)|lung(6)	7								chemokine (C-C motif) ligand 14							54	53	53					17																	34324881		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34324881C>A	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"Chemokine ligands", "Endogenous ligands"	10613	protein-coding gene	gene with protein product	"leukotactin 1", "CC chemokine 3", "macrophage inflammatory protein 5", "chemokine CC-2", "MIP-1 delta"	601393	"small inducible cytokine subfamily A (Cys-Cys), member 15"	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.264G>T	17.37:g.34324881C>A	ENSP00000293276:p.Lys88Asn		Somatic				CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N				WXS	Illumina GAIIx	Phase_I	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	832	-		Ovarian(249;0.17)						B2RU34|E1P651|Q9UM74	Translation_Start_Site	SNP	ENST00000354059.4	37		CCDS11304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610942|2.610942	0.46631|0.46631	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000354059|ENST00000394506	T|.	0.05382|.	3.45|.	4.72|4.72	-6.98|-6.98	0.01611|0.01611	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);|.	0.796847|.	0.10653|.	N|.	0.649640|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.52823|0.52823	1.66|1.66	0.09310|0.09310	N|N	1|1	B|.	0.29481|.	0.245|.	B|.	0.35039|.	0.194|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.54805|.	T|.	0.06|.	.|.	0.9572|0.9572	0.01388|0.01388	0.3366:0.1609:0.1108:0.3916|0.3366:0.1609:0.1108:0.3916	.|.	88|.	Q16663|.	CCL15_HUMAN|.	N|M	88|36	ENSP00000293276:K88N|.	ENSP00000293276:K88N|.	K|R	-|-	3|2	2|0	CCL15|CCL15	31348994|31348994	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-1.099000|-1.099000	0.03343|0.03343	-1.254000|-1.254000	0.02485|0.02485	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.507	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		13	32	13	32	---	---	---	---	A	34324881	C	A	34324881	3	1	312	1	0	0	0	0	1	0	0	0	2886	680	24	1	81	1	CCL15	17	34324881	Missense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		34324881	46870329	23	11358										
SPOP	8405	broad.mit.edu	37	chr17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	acagctgaccagtaacaggtAaagtgacaggtaatctttgc	10	8	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	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.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113	106	108					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>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.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)	Somatic				SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	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	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	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	55	20	55	---	---	---	---	T	47696689	A	T	47696689	3	4	312	1	0	0	0	0	1	0	0	0	15083	362	13	5	893	5	SPOP	17	47696689	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	13371808	47696689	33498521	24	11359										
USHBP1	83878	broad.mit.edu	37	chr19	17374839	17374839	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	taggccttggccactgacctCctccatggggcccagctgct	11	16	0	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:17374839C>A	ENST00000252597.3	-	3	348	c.175G>T	c.(175-177)Gag>Tag	p.E59*	USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	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						CCACTGACCTCCTCCATGGGG	0.617																																						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.(175-177)Gag>Tag		Usher syndrome 1C binding protein 1							40	34	36					19																	17374839		2203	4300	6503	SO:0001587	stop_gained	83878						PDZ domain binding	g.chr19:17374839C>A	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.175G>T	19.37:g.17374839C>A	ENSP00000252597:p.Glu59*		Somatic				USHBP1_ENST00000598570.1_Intron|USHBP1_ENST00000431146.2_Intron	p.E59*	NM_031941.3	NP_114147.2	WXS	Illumina GAIIx	Phase_I	Q8N6Y0	USBP1_HUMAN			3	348	-			59						Nonsense_Mutation	SNP	ENST00000252597.3	37	c.175G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156143	0.57259	.	.	ENSG00000130307	ENST00000252597;ENST00000324554	.	.	.	2.63	1.56	0.23342	.	0.229900	0.22396	N	0.060609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.4936	7.3558	0.26719	0.0:0.7264:0.2736:0.0	.	.	.	.	X	59	.	ENSP00000252597:E59X	E	-	1	0	USHBP1	17235839	0.014000	0.17966	0.005000	0.12908	0.002000	0.02628	0.725000	0.25970	0.659000	0.30945	-0.302000	0.09304	GAG		0.617	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		3	14	3	14	---	---	---	---	A	17374839	C	A	17374839	4	1	312	1	0	0	0	0	0	1	0	0	17034	864	30	3	1980	3	USHBP1	19	17374839	Nonsense_Mutation	SNP	C	TCGA-YL-A8S8-01A-11D-A377-08		17374839	41754144	25	11360										
SLC27A5	10998	broad.mit.edu	37	chr19	59012735	59012735	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	gctgccgacagtcatcccagAagcaggaagtagagaacttg	12	10	1	2			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:59012735A>T	ENST00000263093.2	-	4	1209	c.1100T>A	c.(1099-1101)tTc>tAc	p.F367Y	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	367					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCATCCCAGAAGCAGGAAGT	0.532																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1099-1101)tTc>tAc		solute carrier family 27 (fatty acid transporter), member 5							86	85	86					19																	59012735		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012735A>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1100T>A	19.37:g.59012735A>T	ENSP00000263093:p.Phe367Tyr		Somatic				SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y	p.F367Y	NM_012254.2	NP_036386.1	WXS	Illumina GAIIx	Phase_I	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1209	-		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)	367					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1100T>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475268	0.84640	.	.	ENSG00000083807	ENST00000263093	T	0.42900	0.96	4.9	3.87	0.44632	AMP-dependent synthetase/ligase (1);	0.110859	0.64402	N	0.000008	T	0.47655	0.1457	M	0.64676	1.99	0.34566	D	0.712878	P	0.35944	0.529	P	0.46585	0.521	T	0.58885	-0.7557	10	0.45353	T	0.12	-23.1816	8.258	0.31769	0.8237:0.0:0.0:0.1763	.	367	Q9Y2P5	S27A5_HUMAN	Y	367	ENSP00000263093:F367Y	ENSP00000263093:F367Y	F	-	2	0	SLC27A5	63704547	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.172000	0.71932	0.795000	0.33922	0.460000	0.39030	TTC		0.532	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		22	49	22	49	---	---	---	---	T	59012735	A	T	59012735	3	4	312	1	0	0	0	0	1	0	0	0	14529	246	9	5	1000	5	SLC27A5	19	59012735	Missense_Mutation	SNP	A	TCGA-YL-A8S8-01A-11D-A377-08	41637896	59012735	116248	26	11361										
DIP2A	23181	broad.mit.edu	37	chr21	47987298	47987298	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	tgcagtgccgtattcacctgGaccaacctgctggtggtggt	13	11	1	0			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr21:47987298G>A	ENST00000417564.2	+	38	4500	c.4479G>A	c.(4477-4479)tgG>tgA	p.W1493*	DIP2A_ENST00000318711.7_Nonsense_Mutation_p.W1494*|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1493					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)		TATTCACCTGGACCAACCTGC	0.592																																						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.(4480-4482)tgG>tgA		DIP2 disco-interacting protein 2 homolog A (Drosophila)							86	91	90					21																	47987298		2203	4300	6503	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987298G>A	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.4479G>A	21.37:g.47987298G>A	ENSP00000392066:p.Trp1493*		Somatic				DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*|DIP2A_ENST00000479654.1_3'UTR	p.W1494*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	WXS	Illumina GAIIx	Phase_I	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)	38	4665	+	Breast(49;0.0933)		1493					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.4482G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.724119	0.99691	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8398	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	1489;1494;1493	.	ENSP00000323633:W1494X	W	+	3	0	DIP2A	46811726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.627000	0.98412	2.748000	0.94277	0.655000	0.94253	TGG		0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		18	79	18	79	---	---	---	---	A	47987298	G	A	47987298	4	1	312	1	0	0	0	0	0	1	0	0	4527	1183	41	2	4742	2	DIP2A	21	47987298	Nonsense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08		47987298	142597	27	11362										
MID1	4281	broad.mit.edu	37	chrX	10417583	10417583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	aggcgatagagccgttatcaTagtccagcaggatgcccacg	12	11	1	1			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:10417583T>C	ENST00000317552.4	-	10	2229	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCGTTATCATAGTCCAGCAG	0.557																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1828-1830)tAt>tGt		midline 1 (Opitz/BBB syndrome)							125	94	105					X																	10417583		2203	4300	6503	SO:0001583	missense	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417583T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1829A>G	X.37:g.10417583T>C	ENSP00000312678:p.Tyr610Cys		Somatic				MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.Y610C	p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			10	2229	-			610			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1829A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468139	0.63625	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	L	0.52573	1.65	0.80722	D	1	P;P;P	0.40066	0.701;0.569;0.557	P;P;P	0.53912	0.737;0.599;0.617	T	0.63739	-0.6569	10	0.18276	T	0.48	.	14.7167	0.69275	0.0:0.0:0.0:1.0	.	610;610;560	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	610;610;610;610;610;610;560	ENSP00000414521:Y610C;ENSP00000312678:Y610C;ENSP00000370162:Y610C;ENSP00000370156:Y610C;ENSP00000370164:Y610C;ENSP00000370157:Y610C	ENSP00000312678:Y610C	Y	-	2	0	MID1	10377583	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	7.538000	0.82048	1.857000	0.53885	0.345000	0.21793	TAT		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	15	29	15	---	---	---	---	C	10417583	T	C	10417583	3	2	312	1	0	0	0	0	1	0	0	0	9576	1406	49	2	178	2	MID1	23	10417583	Missense_Mutation	SNP	T	TCGA-YL-A8S8-01A-11D-A377-08		10417583	144852977	28	11363										
HTATSF1	27336	broad.mit.edu	37	chrX	135593232	135593232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.914556962025316	NA	0.914556962025316	1	1	0	tgggggagaatttgaagaagGtgcttctgaaaacaatgcta	13	4	1	4			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:135593232G>A	ENST00000218364.4	+	9	1502	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G443D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	443	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)			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)					TTTGAAGAAGGTGCTTCTGAA	0.428																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1327-1329)gGt>gAt		HIV-1 Tat specific factor 1							91	101	97					X																	135593232		2202	4299	6501	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:135593232G>A	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.1328G>A	X.37:g.135593232G>A	ENSP00000218364:p.Gly443Asp		Somatic				HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D	p.G443D	NM_001163280.1	NP_001156752.1	WXS	Illumina GAIIx	Phase_I	O43719	HTSF1_HUMAN			10	1750	+	Acute lymphoblastic leukemia(192;0.000127)		443			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1328G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459679	0.01062	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.19669	2.13;2.13	5.49	-3.36	0.04913	.	1.339880	0.04254	N	0.339135	T	0.06872	0.0175	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.08179	T	0.78	-1.0468	6.1437	0.20273	0.4184:0.2494:0.3322:0.0	.	443	O43719	HTSF1_HUMAN	D	443	ENSP00000442699:G443D;ENSP00000218364:G443D	ENSP00000218364:G443D	G	+	2	0	HTATSF1	135420898	0.001000	0.12720	0.048000	0.18961	0.705000	0.40729	0.220000	0.17660	-0.580000	0.05944	-0.529000	0.04317	GGT		0.428	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		3	53	3	53	---	---	---	---	A	135593232	G	A	135593232	3	1	312	1	0	0	0	0	1	0	0	0	7433	1261	44	2	1362	2	HTATSF1	23	135593232	Missense_Mutation	SNP	G	TCGA-YL-A8S8-01A-11D-A377-08	125175649	135593232	19677328	29	11364										
ATF2	1386	broad.mit.edu	37	chr2	175962238	175962238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	cgagattcctctgactgagtCctaaccaatccgctaccatg	7	14	1	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:175962238C>A	ENST00000264110.2	-	11	1210	c.912G>T	c.(910-912)agG>agT	p.R304S	ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S	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	304					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)	CTGACTGAGTCCTAACCAATC	0.453																																					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.(910-912)agG>agT		activating transcription factor 2							160	136	144					2																	175962238		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.chr2:175962238C>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.912G>T	2.37:g.175962238C>A	ENSP00000264110:p.Arg304Ser		Somatic				ATF2_ENST00000409437.1_Missense_Mutation_p.R188S|ATF2_ENST00000426833.3_Missense_Mutation_p.R286S|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.R246S|ATF2_ENST00000392544.1_Missense_Mutation_p.R304S|ATF2_ENST00000538946.1_Missense_Mutation_p.R286S|ATF2_ENST00000409635.1_Missense_Mutation_p.R246S|ATF2_ENST00000392543.2_Intron	p.R304S	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	WXS	Illumina GAIIx	Phase_I	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		11	1210	-			304					A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	c.912G>T	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	C	6.315	0.426141	0.11987	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.75938	-0.98;0.61;-0.48;0.61;-0.98;-0.98;-0.55	5.78	1.92	0.25849	.	0.251730	0.36893	N	0.002348	T	0.44582	0.1300	N	0.03608	-0.345	0.34123	D	0.664372	B;B;B;B	0.19817	0.039;0.033;0.001;0.002	B;B;B;B	0.15052	0.012;0.006;0.002;0.002	T	0.43310	-0.9399	10	0.08179	T	0.78	-8.7081	9.4587	0.38772	0.0:0.643:0.0:0.3569	.	286;281;246;304	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	S	304;246;281;188;246;304;286;286	ENSP00000264110:R304S;ENSP00000340576:R246S;ENSP00000386326:R188S;ENSP00000387093:R246S;ENSP00000376327:R304S;ENSP00000407911:R286S;ENSP00000437952:R286S	ENSP00000264110:R304S	R	-	3	2	ATF2	175670484	0.984000	0.35163	0.999000	0.59377	0.758000	0.43043	0.161000	0.16481	0.340000	0.23745	-0.145000	0.13849	AGG		0.453	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880		44	52	44	52	---	---	---	---	A	175962238	C	A	175962238	3	1	313	1	0	0	0	0	1	0	0	0	1080	854	30	3	621	3	ATF2	2	175962238	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		175962238	67237135	1	11365										
ITGA4	3676	broad.mit.edu	37	chr2	182339937	182339937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	acataaagaatgaaaataagCtccccactggtggttgctat	8	8	0	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:182339937C>A	ENST00000397033.2	+	4	908	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	160					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)	TGAAAATAAGCTCCCCACTGG	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.(478-480)Ctc>Atc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						97	96	96					2																	182339937		1825	4086	5911	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.chr2:182339937C>A		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.478C>A	2.37:g.182339937C>A	ENSP00000380227:p.Leu160Ile		Somatic				ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.L160I	p.L160I	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	908	+			160					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.478C>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832852	0.91036	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.42131	1.91;0.98;0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	D;D	0.83275	0.925;0.996	T	0.66320	-0.5953	10	0.56958	D	0.05	.	18.5676	0.91121	0.0:1.0:0.0:0.0	.	160;160	E7EP60;P13612	.;ITA4_HUMAN	I	160	ENSP00000340149:L160I;ENSP00000380227:L160I;ENSP00000233573:L160I	ENSP00000233573:L160I	L	+	1	0	ITGA4	182048182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.427000	0.52785	2.695000	0.91970	0.650000	0.86243	CTC		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			41	52	41	52	---	---	---	---	A	182339937	C	A	182339937	3	1	313	1	0	0	0	0	1	0	0	0	7878	797	28	3	492	3	ITGA4	2	182339937	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	6377699	182339937	60859436	2	11366										
DOCK10	55619	broad.mit.edu	37	chr2	225698898	225698898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gctttactgttgttgagtcaTttgatttcaaaagaccagtc	8	7	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr2:225698898T>A	ENST00000258390.7	-	26	3000	c.2933A>T	c.(2932-2934)aAt>aTt	p.N978I	DOCK10_ENST00000409592.3_Missense_Mutation_p.N972I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	978					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)		TGTTGAGTCATTTGATTTCAA	0.403																																						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.(2914-2916)aAt>aTt		dedicator of cytokinesis 10							122	122	122					2																	225698898		2025	4197	6222	SO:0001583	missense	55619						GTP binding	g.chr2:225698898T>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.2933A>T	2.37:g.225698898T>A	ENSP00000258390:p.Asn978Ile		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.N978I	p.N972I			WXS	Illumina GAIIx	Phase_I	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)	26	3028	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	978					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2915A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098850	0.76870	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.65549	3.54;-0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	M	0.73319	2.225	0.46823	D	0.999211	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.79619	-0.1728	10	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	978;972	Q96BY6;B3FL70	DOC10_HUMAN;.	I	972;978	ENSP00000386694:N972I;ENSP00000258390:N978I	ENSP00000258390:N978I	N	-	2	0	DOCK10	225407142	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.277000	0.72608	2.371000	0.80710	0.533000	0.62120	AAT		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			33	35	33	35	---	---	---	---	A	225698898	T	A	225698898	3	1	313	1	0	0	0	0	1	0	0	0	4685	1493	52	5	3751	5	DOCK10	2	225698898	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08	43358961	225698898	17500475	3	11367										
RBP1	5947	broad.mit.edu	37	chr3	139258317	139258318	+	Frame_Shift_Del	DEL	AC	AC	-													0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	cttaccgagggcgcgcaggtActcctcgaaattctcgttga							TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr3:139258317_139258318delAC	ENST00000483943.2	-	1	243_244	c.243_244delGT	c.(241-246)gagtacfs	p.Y82fs	RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	20					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GCGCGCAGGTACTCCTCGAAAT	0.673																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(241-246)gagtacfs		retinol binding protein 1, cellular	Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258317_139258318delAC		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.243_244delGT	3.37:g.139258317_139258318delAC	ENSP00000424813:p.Tyr82fs		Somatic				RBP1_ENST00000232219.2_Frame_Shift_Del_p.Y82fs|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Frame_Shift_Del_p.Y82fs	p.Y82fs	NM_001130993.1	NP_001124465.1	WXS	Illumina GAIIx	Phase_I	P09455	RET1_HUMAN			1	243_244	-			20					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Frame_Shift_Del	DEL	ENST00000483943.2	37	c.243_244delGT	CCDS46925.1																																																																																				0.673	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		11	2	11	2	---	---	---	---	-	139258318	AC	-	139258317	7	5	313	1	0	1	0	1	0	0	0	0	13155	391	14	0	433	0	RBP1	3	139258317	Frame_Shift_Del	DEL	AC	TCGA-YL-A8S9-01A-11D-A377-08		139258317	58764113	4	11368										
SLC34A2	10568	broad.mit.edu	37	chr4	25673235	25673235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	tcatccagacccagattaacGtcactgttccctcgactgct	6	15	2	2	rs371683311		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr4:25673235G>A	ENST00000382051.3	+	9	990	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I	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	314					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)				CCAGATTAACGTCACTGTTCC	0.522			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.(940-942)Gtc>Atc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	407	331	357		937,937,940	3.5	0.8	4		357	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC34A2	NM_001177998.1,NM_001177999.1,NM_006424.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	313/690,313/690,314/691	25673235	1,13005	2203	4300	6503	SO:0001583	missense	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.chr4:25673235G>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.940G>A	4.37:g.25673235G>A	ENSP00000371483:p.Val314Ile		Somatic				SLC34A2_ENST00000503434.1_Missense_Mutation_p.V313I|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V313I	p.V314I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			9	990	+		Breast(46;0.0503)	314					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.940G>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334544	0.11013	0.0	1.16E-4	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.24723	1.84;1.85;1.84	5.23	3.51	0.40186	.	0.187765	0.45606	N	0.000349	T	0.19287	0.0463	L	0.41573	1.285	0.45676	D	0.99859	B;B	0.17852	0.024;0.006	B;B	0.17722	0.019;0.005	T	0.04976	-1.0914	10	0.27785	T	0.31	-46.8995	8.6736	0.34165	0.2343:0.0:0.7657:0.0	.	313;314	O95436-2;O95436	.;NPT2B_HUMAN	I	313;314;313	ENSP00000425501:V313I;ENSP00000371483:V314I;ENSP00000423021:V313I	ENSP00000371483:V314I	V	+	1	0	SLC34A2	25282333	1.000000	0.71417	0.759000	0.31340	0.006000	0.05464	4.043000	0.57354	0.723000	0.32274	-0.254000	0.11334	GTC		0.522	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		79	94	79	94	---	---	---	---	A	25673235	G	A	25673235	3	1	313	1	0	0	0	0	1	0	0	0	14568	1145	40	2	970	2	SLC34A2	4	25673235	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		25673235	165481041	5	11369										
ANKHD1	54882	broad.mit.edu	37	chr5	139907827	139907827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	tcaatgcactcattcaagatCctgctaaggaactggaagac	8	10	3	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr5:139907827C>A	ENST00000360839.2	+	29	5450	c.5296C>A	c.(5296-5298)Cct>Act	p.P1766T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1766						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)			CATTCAAGATCCTGCTAAGGA	0.383																																						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.(5296-5298)Cct>Act		ankyrin repeat and KH domain containing 1							82	79	80					5																	139907827		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139907827C>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.5296C>A	5.37:g.139907827C>A	ENSP00000354085:p.Pro1766Thr		Somatic				ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1766T|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P149T|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1766T	p.P1766T	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5420	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5296C>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.298792|3.298792	0.60195|0.60195	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74038|0.74038	0.3664|0.3664	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.997;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.972;0.996;0.996;0.994;0.994|.	T|T	0.72928|0.72928	-0.4143|-0.4143	10|5	0.72032|.	D|.	0.01|.	.|.	18.3876|18.3876	0.90471|0.90471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;196;1766;1766;1766|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	T|Y	1766;1766;1766;422;201;288;149;1766|256;216	ENSP00000354085:P1766T;ENSP00000297183:P1766T;ENSP00000393204:P422T;ENSP00000390034:P288T;ENSP00000437687:P149T;ENSP00000432016:P1766T|.	ENSP00000432016:P1766T|.	P|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139888011|139888011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.278000|7.278000	0.78587|0.78587	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		28	39	28	39	---	---	---	---	A	139907827	C	A	139907827	3	1	313	1	0	0	0	0	1	0	0	0	628	855	30	3	5516	3	ANKHD1	5	139907827	Missense_Mutation	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08		139907827	41007433	6	11370										
ANK3	288	broad.mit.edu	37	chr10	62038573	62038574	+	Frame_Shift_Ins	INS	-	-	T													0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gctccatttgtaaccaagacINSttttaccacctctgcttgcc							TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:62038573_62038574insT	ENST00000280772.2	-	4	563_564	c.372_373insA	c.(370-375)aaagtcfs	p.V125fs	ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	125					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						GTAACCAAGACTTTTACCACCT	0.396																																						ENST00000280772.2																			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.(370-375)aaagtcfs		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.chr10:62038573_62038574insT	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.373dupA	10.37:g.62038577_62038577dupT	ENSP00000280772:p.Val125fs		Somatic				ANK3_ENST00000503366.1_Frame_Shift_Ins_p.V108fs|ANK3_ENST00000373827.2_Frame_Shift_Ins_p.V119fs	p.V125fs	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			4	563_564	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.372_373insA	CCDS7258.1																																																																																				0.396	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		86	79	86	79	---	---	---	---	T	62038574	-	T	62038573	7	5	313	1	0	1	1	0	0	0	0	0	622	565	20	0	13253	0	ANK3	10	62038573	Frame_Shift_Ins	INS	-	TCGA-YL-A8S9-01A-11D-A377-08		62038573	73496174	7	11371										
RUFY2	3189	broad.mit.edu	37	chr10	70105526	70105526	+	IGR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	aggatttagttctggagtctCagggcaagttagatgagcat	13	5	2	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:70105526C>A	ENST00000265866.7	+	0	2339				RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L|RUFY2_ENST00000388768.2_Nonstop_Mutation_p.*642L|RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						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						TCTGGAGTCTCAGGGCAAGTT	0.423																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1924-1926)tGa>tTa		RUN and FYVE domain containing 2							144	137	139					10																	70105526		1931	4148	6079	SO:0001628	intergenic_variant	55680					nucleus	metal ion binding	g.chr10:70105526C>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		10.37:g.70105526C>A			Somatic				RUFY2_ENST00000602465.1_Nonstop_Mutation_p.*607L|RUFY2_ENST00000265865.3_Nonstop_Mutation_p.*197L	p.*642L	NM_017987.4	NP_060457.4	WXS	Illumina GAIIx	Phase_I	Q8WXA3	RUFY2_HUMAN			18	2251	-			0					A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Nonstop_Mutation	SNP	ENST00000265866.7	37	c.1925G>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568748	0.45798	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	.	.	.	5.48	-5.6	0.02497	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5987	0.76609	0.0:0.5898:0.0:0.4102	.	.	.	.	L	642;197	.	.	X	-	2	2	RUFY2	69775532	0.983000	0.35010	0.000000	0.03702	0.802000	0.45316	0.162000	0.16501	-0.903000	0.03881	-0.379000	0.06801	TGA		0.423	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1			24	37	24	37	---	---	---	---	A	70105526	C	A	70105526	1	1	313	0	1	0	0	0	0	0	0	0	13739	837	29	3		3	RUFY2	10	70105526	IGR	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	8066953	70105526	65429221	8	11372										
ZRANB1	54764	broad.mit.edu	37	chr10	126662251	126662251	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	ccaacagtccaagaaaaattAtttgatgaggtgcttgatag	9	6	0	4			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr10:126662251A>G	ENST00000359653.4	+	4	1565	c.1194A>G	c.(1192-1194)ttA>ttG	p.L398L		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	398	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)		AAGAAAAATTATTTGATGAGG	0.303																																						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.(1192-1194)ttA>ttG		zinc finger, RAN-binding domain containing 1							128	133	131					10																	126662251		2203	4298	6501	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.chr10:126662251A>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.1194A>G	10.37:g.126662251A>G			Somatic					p.L398L	NM_017580.2	NP_060050.2	WXS	Illumina GAIIx	Phase_I	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	4	1565	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	398			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1194A>G	CCDS7642.1																																																																																				0.303	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		4	207	4	207	---	---	---	---	G	126662251	A	G	126662251	2	3	313	1	0	0	0	0	0	0	0	1	18219	446	16	2		2	ZRANB1	10	126662251	Silent	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08	56556725	126662251	8872496	9	11373										
ATM	472	broad.mit.edu	37	chr11	108218045	108218045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	tggtgatagacatgtacagaAtatcttgataaatgagcagt	10	4	1	5	rs587782451		TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:108218045A>G	ENST00000452508.2	+	60	8813	c.8624A>G	c.(8623-8625)aAt>aGt	p.N2875S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875S|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron			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)	p.N2875T(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)	CATGTACAGAATATCTTGATA	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		1	Substitution - Missense(1)	p.N2875T(1)	liver(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.(8623-8625)aAt>aGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							99	105	103					11																	108218045		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.chr11:108218045A>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.8624A>G	11.37:g.108218045A>G	ENSP00000388058:p.Asn2875Ser	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.N2875S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron	p.N2875S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	9009	+		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.8624A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663690	0.88251	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	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	0.98220	0.9411	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.6511	0.77095	1.0:0.0:0.0:0.0	.	2875	Q13315	ATM_HUMAN	S	2875	ENSP00000278616:N2875S;ENSP00000388058:N2875S	ENSP00000278616:N2875S	N	+	2	0	ATM	107723255	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.090000	0.63153	0.454000	0.30748	AAT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		61	5	61	5	---	---	---	---	G	108218045	A	G	108218045	3	3	313	1	0	0	0	0	1	0	0	0	1109	101	4	2	8854	2	ATM	11	108218045	Missense_Mutation	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08		108218045	26788471	10	11374										
VPS11	55823	broad.mit.edu	37	chr11	118949846	118949846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	accccaatctcagtggtgcaGaccctggcccacaactccac	7	18	1	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr11:118949846G>T	ENST00000300793.6	+	15	2313	c.2271G>T	c.(2269-2271)caG>caT	p.Q757H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	758					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)		CAGTGGTGCAGACCCTGGCCC	0.552																																						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.(2269-2271)caG>caT		vacuolar protein sorting 11 homolog (S. cerevisiae)							44	48	46					11																	118949846		2116	4235	6351	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949846G>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.2271G>T	11.37:g.118949846G>T	ENSP00000475301:p.Gln757His		Somatic				VPS11_ENST00000527798.1_3'UTR	p.Q757H	NM_021729.4	NP_068375.3	WXS	Illumina GAIIx	Phase_I	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2313	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	758					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2271G>T																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		21	4	21	4	---	---	---	---	T	118949846	G	T	118949846	3	4	313	1	0	0	0	0	1	0	0	0	17185	933	33	3	2327	3	VPS11	11	118949846	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	10731801	118949846	16056670	11	11375										
SLC35F4	341880	broad.mit.edu	37	chr14	58030926	58030926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gtatgctgggatcagtcacaTcatccacatgctcctcactc	7	14	4	0			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr14:58030926T>A	ENST00000339762.6	-	8	1492	c.1493A>T	c.(1492-1494)gAt>gTt	p.D498V	SLC35F4_ENST00000556826.1_Missense_Mutation_p.D462V|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	498					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCAGTCACATCATCCACATG	0.498																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)gAt>gTt		solute carrier family 35, member F4							91	92	92					14																	58030926		2053	4209	6262	SO:0001583	missense	341880							g.chr14:58030926T>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1493A>T	14.37:g.58030926T>A	ENSP00000342518:p.Asp498Val		Somatic				SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339V|SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498V	p.D462V	NM_001206920.1	NP_001193849.1	WXS	Illumina GAIIx	Phase_I					8	1621	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.1385A>T		.	.	.	.	.	.	.	.	.	.	T	11.85	1.760199	0.31137	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.52754	0.75;0.65;0.8	5.14	5.14	0.70334	.	0.102646	0.64402	D	0.000003	T	0.42359	0.1199	L	0.36672	1.1	0.80722	D	1	B	0.33413	0.411	B	0.35550	0.205	T	0.45789	-0.9237	10	0.72032	D	0.01	-8.2332	15.2417	0.73476	0.0:0.0:0.0:1.0	.	498	A4IF30	S35F4_HUMAN	V	462;498;339	ENSP00000452086:D462V;ENSP00000342518:D498V;ENSP00000451990:D339V	ENSP00000342518:D498V	D	-	2	0	SLC35F4	57100679	1.000000	0.71417	0.064000	0.19789	0.235000	0.25334	7.655000	0.83696	2.047000	0.60756	0.460000	0.39030	GAT		0.498	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		6	8	6	8	---	---	---	---	A	58030926	T	A	58030926	3	1	313	1	0	0	0	0	1	0	0	0	14591	1435	50	5	76	5	SLC35F4	14	58030926	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08		58030926	49318614	12	11376										
ATP10A	57194	broad.mit.edu	37	chr15	25959331	25959331	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	caggcagctgggtgtgaaccTccgcaggaagtcttctatcg	13	11	2	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:25959331T>G	ENST00000356865.6	-	10	1945	c.1834A>C	c.(1834-1836)Agg>Cgg	p.R612R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					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)		GGTGTGAACCTCCGCAGGAAG	0.597																																						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.(1834-1836)Agg>Cgg		ATPase, class V, type 10A							46	51	49					15																	25959331		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.chr15:25959331T>G	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.1834A>C	15.37:g.25959331T>G			Somatic					p.R612R	NM_024490.3	NP_077816.1	WXS	Illumina GAIIx	Phase_I	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)	10	1945	-		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)	612					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1834A>C	CCDS32178.1																																																																																				0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		20	24	20	24	---	---	---	---	G	25959331	T	G	25959331	2	3	313	1	0	0	0	0	0	0	0	1	1116	1550	54	5		5	ATP10A	15	25959331	Silent	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08		25959331	76572061	13	11377										
SQRDL	58472	broad.mit.edu	37	chr15	45968418	45968418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gagcggaacctcactgttaaCtacaagaaaaacctcattga	7	10	2	2			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:45968418C>T	ENST00000260324.7	+	6	1160	c.774C>T	c.(772-774)aaC>aaT	p.N258N	RP11-96O20.4_ENST00000564080.1_Silent_p.N258N|SQRDL_ENST00000568606.1_Silent_p.N258N	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	258					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)		TCACTGTTAACTACAAGAAAA	0.458																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(772-774)aaC>aaT		sulfide quinone reductase-like (yeast)							126	131	129					15																	45968418		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45968418C>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.774C>T	15.37:g.45968418C>T			Somatic				SQRDL_ENST00000568606.1_Silent_p.N258N|RP11-96O20.4_ENST00000564080.1_Silent_p.N258N	p.N258N	NM_021199.3	NP_067022.1	WXS	Illumina GAIIx	Phase_I	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	1160	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	258					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.774C>T	CCDS10127.1																																																																																				0.458	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			49	65	49	65	---	---	---	---	T	45968418	C	T	45968418	2	4	313	1	0	0	0	0	0	0	0	1	15128	564	20	2		2	SQRDL	15	45968418	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	20009087	45968418	56562974	14	11378										
ONECUT1	3175	broad.mit.edu	37	chr15	53080999	53080999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gctaagcggagcgcggacatGcgctggaactccggctcctg	15	13	0	0			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr15:53080999G>A	ENST00000305901.5	-	1	1210	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	361					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)		GCGCGGACATGCGCTGGAACT	0.637																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(1081-1083)cgC>cgT		one cut homeobox 1							34	37	36					15																	53080999		2194	4293	6487	SO:0001819	synonymous_variant	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.chr15:53080999G>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.1083C>T	15.37:g.53080999G>A			Somatic				ONECUT1_ENST00000561401.2_Intron	p.R361R	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1210	-			361					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.1083C>T	CCDS10150.1																																																																																				0.637	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	18	27	18	---	---	---	---	A	53080999	G	A	53080999	2	1	313	1	0	0	0	0	0	0	0	1	10868	1306	46	2		2	ONECUT1	15	53080999	Silent	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	7112581	53080999	49450393	15	11379										
CLEC16A	23274	broad.mit.edu	37	chr16	11051757	11051757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	ggggagatcaaaatgacagcTctgtatttgagtaagggttt	13	4	2	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr16:11051757T>G	ENST00000409790.1	+	2	429	c.199T>G	c.(199-201)Tct>Gct	p.S67A	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	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						AAATGACAGCTCTGTATTTGA	0.403																																						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.(199-201)Tct>Gct		C-type lectin domain family 16, member A							130	127	128					16																	11051757		1874	4116	5990	SO:0001583	missense	23274							g.chr16:11051757T>G	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.199T>G	16.37:g.11051757T>G	ENSP00000387122:p.Ser67Ala		Somatic				CLEC16A_ENST00000409552.3_Missense_Mutation_p.S67A	p.S67A	NM_015226.2	NP_056041.1	WXS	Illumina GAIIx	Phase_I	Q2KHT3	CL16A_HUMAN			2	429	+			67						Missense_Mutation	SNP	ENST00000409790.1	37	c.199T>G	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.028800	0.54790	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50001	0.76	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.42744	1.35	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.79108	0.992;0.979	T	0.59794	-0.7387	10	0.46703	T	0.11	-11.5145	13.4335	0.61071	0.0:0.0:0.0:1.0	.	67;67	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	A	67	ENSP00000387122:S67A	ENSP00000386495:S67A	S	+	1	0	CLEC16A	10959258	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.009000	0.70745	1.822000	0.53115	0.528000	0.53228	TCT		0.403	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		4	83	4	83	---	---	---	---	G	11051757	T	G	11051757	3	3	313	1	0	0	0	0	1	0	0	0	3500	1551	54	5	205	5	CLEC16A	16	11051757	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08		11051757	79302996	16	11380										
MYH4	4622	broad.mit.edu	37	chr17	10356590	10356590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	ggagagccttcttctccttgGtcagcttagcaatggtttca	10	10	4	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:10356590G>A	ENST00000255381.2	-	24	3100	c.2990C>T	c.(2989-2991)aCc>aTc	p.T997I	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	997					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						CTTCTCCTTGGTCAGCTTAGC	0.478																																						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.(2989-2991)aCc>aTc		myosin, heavy chain 4, skeletal muscle							220	201	207					17																	10356590		2203	4297	6500	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.chr17:10356590G>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.2990C>T	17.37:g.10356590G>A	ENSP00000255381:p.Thr997Ile		Somatic				RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.T997I	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			24	3100	-			997						Missense_Mutation	SNP	ENST00000255381.2	37	c.2990C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056989	0.76074	.	.	ENSG00000141048	ENST00000255381	D	0.87729	-2.29	5.19	5.19	0.71726	.	0.000000	0.38492	U	0.001679	D	0.90741	0.7094	M	0.80847	2.515	0.80722	D	1	P	0.36354	0.549	B	0.43386	0.418	D	0.91686	0.5362	10	0.87932	D	0	.	19.0682	0.93122	0.0:0.0:1.0:0.0	.	997	Q9Y623	MYH4_HUMAN	I	997	ENSP00000255381:T997I	ENSP00000255381:T997I	T	-	2	0	MYH4	10297315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.681000	0.98653	2.571000	0.86741	0.591000	0.81541	ACC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	181	8	181	---	---	---	---	A	10356590	G	A	10356590	3	1	313	1	0	0	0	0	1	0	0	0	10037	1261	44	2	2897	2	MYH4	17	10356590	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		10356590	70838620	17	11381										
NLK	51701	broad.mit.edu	37	chr17	26488195	26488195	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	aaaacttcaagatatgttgtCacagaattgatgcagagtga	9	5	2	5			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:26488195C>T	ENST00000407008.3	+	4	1372	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|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)		GATATGTTGTCACAGAATTGA	0.393																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(652-654)gtC>gtT		nemo-like kinase							94	87	90					17																	26488195		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:26488195C>T	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.654C>T	17.37:g.26488195C>T			Somatic					p.V218V	NM_016231.4	NP_057315.3	WXS	Illumina GAIIx	Phase_I	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	1372	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		218			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.654C>T	CCDS11224.2																																																																																				0.393	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		10	34	10	34	---	---	---	---	T	26488195	C	T	26488195	2	4	313	1	0	0	0	0	0	0	0	1	10466	813	29	2		2	NLK	17	26488195	Silent	SNP	C	TCGA-YL-A8S9-01A-11D-A377-08	16131605	26488195	54707015	18	11382										
RHOT1	55288	broad.mit.edu	37	chr17	30529851	30529851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	aaagaaatgtgttcagatgtAatgtaattggagtgaaaaac	10	2	1	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr17:30529851A>G	ENST00000333942.6	+	15	1503	c.1264A>G	c.(1264-1266)Aat>Gat	p.N422D	RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000358365.3_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	422	Miro 2.				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)|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)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTTCAGATGTAATGTAATTGG	0.313																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1264-1266)Aat>Gat		ras homolog family member T1							104	113	110					17																	30529851		2203	4298	6501	SO:0001583	missense	55288				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.chr17:30529851A>G	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1264A>G	17.37:g.30529851A>G	ENSP00000334724:p.Asn422Asp		Somatic				RHOT1_ENST00000333942.6_Missense_Mutation_p.N422D|RHOT1_ENST00000545287.2_Missense_Mutation_p.N422D|RHOT1_ENST00000394692.2_Missense_Mutation_p.N422D|RHOT1_ENST00000583994.1_Missense_Mutation_p.N295D|RHOT1_ENST00000354266.3_Missense_Mutation_p.N401D|RHOT1_ENST00000581094.1_Missense_Mutation_p.N422D	p.N422D	NM_001033568.1	NP_001028740.1	WXS	Illumina GAIIx	Phase_I	Q8IXI2	MIRO1_HUMAN			15	1491	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	422			Miro 2.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1264A>G	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368809	0.42003	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.21932	1.98;1.98;1.98	5.47	5.47	0.80525	Mitochondrial Rho-like (1);MIRO (1);	0.085246	0.85682	D	0.000000	T	0.24198	0.0586	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.31383	0.321;0.003;0.004;0.018	B;B;B;B	0.35550	0.205;0.008;0.005;0.012	T	0.02519	-1.1147	10	0.44086	T	0.13	-17.8578	15.5516	0.76158	1.0:0.0:0.0:0.0	.	422;422;422;422	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	D	422	ENSP00000351132:N422D;ENSP00000378184:N422D;ENSP00000334724:N422D	ENSP00000334724:N422D	N	+	1	0	RHOT1	27553964	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.180000	0.77674	2.078000	0.62432	0.477000	0.44152	AAT		0.313	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		20	24	20	24	---	---	---	---	G	30529851	A	G	30529851	3	3	313	1	0	0	0	0	1	0	0	0	13343	362	13	2	1322	2	RHOT1	17	30529851	Missense_Mutation	SNP	A	TCGA-YL-A8S9-01A-11D-A377-08	4041656	30529851	50665359	19	11383										
ARRDC5	645432	broad.mit.edu	37	chr19	4902803	4902803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	ccaggtagattctatcctcgGgcagcactaattcgatcgac	9	12	1	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:4902803G>A	ENST00000381781.2	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L	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)		TCTATCCTCGGGCAGCACTAA	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(76-78)cCc>cTc		arrestin domain containing 5							87	82	84					19																	4902803		1907	4126	6033	SO:0001583	missense	645432				signal transduction			g.chr19:4902803G>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.77C>T	19.37:g.4902803G>A	ENSP00000371200:p.Pro26Leu		Somatic					p.P26L	NM_001080523.1	NP_001073992.1	WXS	Illumina GAIIx	Phase_I	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	76	-			26						Missense_Mutation	SNP	ENST00000381781.2	37	c.77C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164889	0.38217	.	.	ENSG00000205784	ENST00000381781	T	0.18657	2.2	5.23	4.19	0.49359	Immunoglobulin E-set (1);	0.358324	0.20944	N	0.082873	T	0.29028	0.0721	L	0.51422	1.61	0.48452	D	0.999659	P	0.41366	0.747	P	0.49853	0.624	T	0.02588	-1.1137	10	0.59425	D	0.04	-39.1451	9.7129	0.40256	0.0938:0.0:0.9062:0.0	.	26	A6NEK1	ARRD5_HUMAN	L	26	ENSP00000371200:P26L	ENSP00000371200:P26L	P	-	2	0	ARRDC5	4853803	1.000000	0.71417	0.813000	0.32504	0.011000	0.07611	4.859000	0.62954	1.430000	0.47334	0.650000	0.86243	CCC		0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	54	38	54	---	---	---	---	A	4902803	G	A	4902803	3	1	313	1	0	0	0	0	1	0	0	0	986	1232	43	2	963	2	ARRDC5	19	4902803	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		4902803	54226180	20	11384										
MUC16	94025	broad.mit.edu	37	chr19	9064067	9064067	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gtggtacacattggagatgaGtcagctaggacagaggactg	15	6	1	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:9064067G>C	ENST00000397910.4	-	3	23582	c.23379C>G	c.(23377-23379)gaC>gaG	p.D7793E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7795	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						TTGGAGATGAGTCAGCTAGGA	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.(23377-23379)gaC>gaG		mucin 16, cell surface associated							288	282	284					19																	9064067		2125	4231	6356	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064067G>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.23379C>G	19.37:g.9064067G>C	ENSP00000381008:p.Asp7793Glu		Somatic					p.D7793E	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23582	-			7795			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23379C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.961	0.178579	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.33	1.33	0.21861	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	.	.	.	P	0.44344	0.833	B	0.28916	0.096	T	0.18587	-1.0332	8	0.87932	D	0	.	6.0525	0.19792	0.0:0.0:1.0:0.0	.	7793	B5ME49	.	E	7793	ENSP00000381008:D7793E	ENSP00000381008:D7793E	D	-	3	2	MUC16	8925067	0.001000	0.12720	0.001000	0.08648	0.101000	0.19017	-0.377000	0.07456	1.025000	0.39708	0.195000	0.17529	GAC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	196	4	196	---	---	---	---	C	9064067	G	C	9064067	3	2	313	1	0	0	0	0	1	0	0	0	9973	1020	36	4	20472	4	MUC16	19	9064067	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08	4161264	9064067	50064916	21	11385										
EMR2	30817	broad.mit.edu	37	chr19	14875289	14875289	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	tcaacagcccattggaaaggTtcttgctcaggcctctgagg	11	11	4	1			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr19:14875289T>A	ENST00000315576.3	-	11	1491	c.1040A>T	c.(1039-1041)aAc>aTc	p.N347I	EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	347					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						ATTGGAAAGGTTCTTGCTCAG	0.587																																						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.(1039-1041)aAc>aTc		egf-like module containing, mucin-like, hormone receptor-like 2							68	62	64					19																	14875289		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.chr19:14875289T>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.1040A>T	19.37:g.14875289T>A	ENSP00000319883:p.Asn347Ile		Somatic				EMR2_ENST00000601345.1_Missense_Mutation_p.N347I|EMR2_ENST00000596991.2_Missense_Mutation_p.N347I|EMR2_ENST00000353876.1_Missense_Mutation_p.N254I|EMR2_ENST00000594294.1_Missense_Mutation_p.N298I|EMR2_ENST00000392967.2_Missense_Mutation_p.N347I|EMR2_ENST00000392964.3_Missense_Mutation_p.N86I|EMR2_ENST00000392965.3_Missense_Mutation_p.N347I|EMR2_ENST00000346057.1_Missense_Mutation_p.N298I|EMR2_ENST00000594076.1_Missense_Mutation_p.N254I|EMR2_ENST00000353005.1_Missense_Mutation_p.N205I|EMR2_ENST00000595839.1_Missense_Mutation_p.N205I	p.N347I	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	Q9UHX3	EMR2_HUMAN			11	1491	-			347					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1040A>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755060	0.31046	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.78246	-0.9;-1.01;-0.43;0.37;1.09;-1.16;1.47;-1.08	3.54	-7.02	0.01589	.	.	.	.	.	T	0.60274	0.2256	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.28605	0.146;0.213;0.031;0.052;0.029;0.07;0.172;0.217	B;B;B;B;B;B;B;B	0.31946	0.024;0.108;0.021;0.069;0.015;0.065;0.096;0.138	T	0.55398	-0.8147	9	0.59425	D	0.04	.	7.4918	0.27466	0.0902:0.0:0.4041:0.5057	.	347;254;347;205;298;347;347;347	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	I	347;347;298;254;205;347;86;298	ENSP00000319883:N347I;ENSP00000376694:N347I;ENSP00000263380:N298I;ENSP00000319454:N254I;ENSP00000319838:N205I;ENSP00000376692:N347I;ENSP00000376691:N86I;ENSP00000376689:N298I	ENSP00000319883:N347I	N	-	2	0	EMR2	14736289	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.609000	0.05635	-1.278000	0.02408	-2.061000	0.00397	AAC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			13	12	13	12	---	---	---	---	A	14875289	T	A	14875289	3	1	313	1	0	0	0	0	1	0	0	0	5105	1725	60	5	1475	5	EMR2	19	14875289	Missense_Mutation	SNP	T	TCGA-YL-A8S9-01A-11D-A377-08	5811222	14875289	44253694	22	11386										
CHMP4B	128866	broad.mit.edu	37	chr20	32441333	32441333	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0869565217391304	2	1	1.22560975609756	2.45121951219512	0.817073170731707	1	1	0	gaagaggaggacgacgacatGaaggaattggagaactgggc	17	5	0	3			TCGA-YL-A8S9-01A-11D-A377-08	TCGA-YL-A8S9-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	291c97ad-143c-40b6-9405-7b75ab8e23e4	b2e52658-fe9d-4212-b9e5-eedc1dff76f3	g.chr20:32441333G>C	ENST00000217402.2	+	5	807	c.642G>C	c.(640-642)atG>atC	p.M214I		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	214					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						ACGACGACATGAAGGAATTGG	0.557																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(640-642)atG>atC		charged multivesicular body protein 4B							129	106	114					20																	32441333		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32441333G>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.642G>C	20.37:g.32441333G>C	ENSP00000217402:p.Met214Ile		Somatic					p.M214I	NM_176812.4	NP_789782.1	WXS	Illumina GAIIx	Phase_I	Q9H444	CHM4B_HUMAN			5	807	+			214					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.642G>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888651	0.33348	.	.	ENSG00000101421	ENST00000217402	T	0.51071	0.72	5.32	4.35	0.52113	.	0.038080	0.85682	D	0.000000	T	0.45617	0.1351	L	0.58583	1.82	0.80722	D	1	B	0.17465	0.022	B	0.17098	0.017	T	0.36866	-0.9730	10	0.30078	T	0.28	-18.8909	15.5069	0.75748	0.0:0.0:0.8603:0.1397	.	214	Q9H444	CHM4B_HUMAN	I	214	ENSP00000217402:M214I	ENSP00000217402:M214I	M	+	3	0	CHMP4B	31904994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.499000	0.81566	1.343000	0.45638	0.585000	0.79938	ATG		0.557	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			15	11	15	11	---	---	---	---	C	32441333	G	C	32441333	3	2	313	1	0	0	0	0	1	0	0	0	3357	1290	45	4	660	4	CHMP4B	20	32441333	Missense_Mutation	SNP	G	TCGA-YL-A8S9-01A-11D-A377-08		32441333	30584187	23	11387										
FLG2	388698	broad.mit.edu	37	chr1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatgaactgtggatcctggCtgtctttgttgagatccagc	11	10	1	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285					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)			TGGATCCTGGCTGTCTTTGTT	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.(6853-6855)caG>caT		filaggrin family member 2							283	258	266					1																	152323407		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323407C>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.6855G>T	1.37:g.152323407C>A	ENSP00000373370:p.Gln2285His		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Q2285H	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6927	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2285					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6855G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617175	0.46736	.	.	ENSG00000143520	ENST00000388718	T	0.03889	3.77	4.47	-2.71	0.05986	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.67900	0.954	T	0.36040	-0.9764	9	0.27785	T	0.31	0.3931	3.1326	0.06429	0.3026:0.3219:0.0:0.3755	.	2285	Q5D862	FILA2_HUMAN	H	2285	ENSP00000373370:Q2285H	ENSP00000373370:Q2285H	Q	-	3	2	FLG2	150590031	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.952000	0.00677	-0.449000	0.07117	0.297000	0.19635	CAG		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		64	87	64	87	---	---	---	---	A	152323407	C	A	152323407	3	1	314	1	0	0	0	0	1	0	0	0	5923	796	28	3	324	3	FLG2	1	152323407	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		152323407	96927214	1	11388										
FLG2	388698	broad.mit.edu	37	chr1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgttgtccaaatccaaaaGtctgtcctgaacttgaccca	7	11	1	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	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)			AAATCCAAAAGTCTGTCCTGA	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.(2833-2835)aCt>aAt		filaggrin family member 2							313	310	311					1																	152327428		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327428G>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.2834C>A	1.37:g.152327428G>T	ENSP00000373370:p.Thr945Asn		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T945N	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2906	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		945			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2834C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	7.241	0.601188	0.13939	.	.	ENSG00000143520	ENST00000388718	T	0.21191	2.02	4.05	-0.695	0.11291	.	.	.	.	.	T	0.05731	0.0150	L	0.47716	1.5	0.09310	N	1	B	0.30326	0.276	B	0.22880	0.042	T	0.32455	-0.9906	9	0.34782	T	0.22	.	8.5019	0.33163	0.0:0.4731:0.3656:0.1613	.	945	Q5D862	FILA2_HUMAN	N	945	ENSP00000373370:T945N	ENSP00000373370:T945N	T	-	2	0	FLG2	150594052	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.780000	0.26760	0.014000	0.14944	-0.176000	0.13171	ACT		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	250	5	250	---	---	---	---	T	152327428	G	T	152327428	3	4	314	1	0	0	0	0	1	0	0	0	5923	1029	36	3	4345	3	FLG2	1	152327428	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	4021	152327428	96923193	2	11389										
LCE2A	353139	broad.mit.edu	37	chr1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgcagctctgggggtggcGgctgctgcctgagccaccac	16	14	1	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(196-198)Ggc>Agc		late cornified envelope 2A							35	45	42					1																	152671573		2200	4297	6497	SO:0001583	missense	353139				keratinization			g.chr1:152671573G>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.196G>A	1.37:g.152671573G>A	ENSP00000357768:p.Gly66Ser		Somatic					p.G66S	NM_178428.3	NP_848515.1	WXS	Illumina GAIIx	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	247	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.196G>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	1.688	-0.504682	0.04261	.	.	ENSG00000187173	ENST00000368779	T	0.04603	3.59	4.61	0.0903	0.14463	.	.	.	.	.	T	0.01627	0.0052	L	0.58428	1.81	0.09310	N	1	B	0.33379	0.41	B	0.24394	0.053	T	0.40869	-0.9540	9	0.87932	D	0	.	6.001	0.19521	0.1679:0.0:0.5752:0.2569	.	66	Q5TA79	LCE2A_HUMAN	S	66	ENSP00000357768:G66S	ENSP00000357768:G66S	G	+	1	0	LCE2A	150938197	0.017000	0.18338	0.061000	0.19648	0.001000	0.01503	-0.301000	0.08232	-0.215000	0.10063	-2.142000	0.00338	GGC		0.687	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	80	5	80	---	---	---	---	A	152671573	G	A	152671573	3	1	314	1	0	0	0	0	1	0	0	0	8665	1116	39	2	198	2	LCE2A	1	152671573	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	344145	152671573	96579048	3	11390										
HEATR5B	54497	broad.mit.edu	37	chr2	37284597	37284597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagtgaattccgctaccaGttctctaagaagtgcattaa	7	9	1	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696						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)				TCCGCTACCAGTTCTCTAAGA	0.368																																						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.(2086-2088)Ctg>Ttg		HEAT repeat containing 5B							110	110	110					2																	37284597		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37284597G>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.2086C>T	2.37:g.37284597G>A			Somatic				HEATR5B_ENST00000354531.2_Silent_p.L696L	p.L696L	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			15	2181	-		all_hematologic(82;0.21)	696					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2086C>T	CCDS33181.1																																																																																				0.368	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		15	27	15	27	---	---	---	---	A	37284597	G	A	37284597	2	1	314	1	0	0	0	0	0	0	0	1	7032	1020	36	2		2	HEATR5B	2	37284597	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		37284597	205914776	4	11391										
SCN2A	6326	broad.mit.edu	37	chr2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	atacctttacaggaatttatActtttgaatcacttattaaa							TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					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)	AGGAATTTATACTTTTGAATC	0.313																																						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.(499-501)actfs		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						72	78	76					2																	166165198		2197	4296	6493	SO:0001589	frameshift_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165198delA	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.499delA	2.37:g.166165198delA	ENSP00000364586:p.Thr167fs		Somatic				SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	p.T167fs	NM_001040142.1	NP_001035232.1	WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			5	789	+			167					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	ENST00000375437.2	37	c.499delA	CCDS33314.1																																																																																				0.313	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		24	51	24	51	---	---	---	---	-	166165198	A	-	166165198	7	5	314	1	0	1	0	1	0	0	0	0	13916	391	14	0	513	0	SCN2A	2	166165198	Frame_Shift_Del	DEL	A	TCGA-YL-A8SA-01A-21D-A377-08	128880601	166165198	77034175	5	11392										
AAMP	14	broad.mit.edu	37	chr2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagtccaggatctcagccGtgtggccccggtagtcagta	12	12	2	0	rs370095659		TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000444053.1_Missense_Mutation_p.T401M|AAMP_ENST00000420660.1_Missense_Mutation_p.T381M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTCAGCCGTGTGGCCCCG	0.592																																						ENST00000248450.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(1198-1200)aCg>aTg		angio-associated, migratory cell protein							81	88	86					2																	219129773		2203	4300	6503	SO:0001583	missense	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219129773G>A	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.1199C>T	2.37:g.219129773G>A	ENSP00000248450:p.Thr400Met		Somatic				AAMP_ENST00000420660.1_Missense_Mutation_p.T381M|AAMP_ENST00000444053.1_Missense_Mutation_p.T401M	p.T400M			WXS	Illumina GAIIx	Phase_I	Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1369	-		Renal(207;0.0474)	400					Q8WUJ9|Q96H92	Missense_Mutation	SNP	ENST00000248450.4	37	c.1199C>T	CCDS33378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.847958|2.847958	0.51164|0.51164	.|.	.|.	ENSG00000127837|ENSG00000127837	ENST00000422731|ENST00000248450;ENST00000444053;ENST00000420660	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.6|5.6	3.8|3.8	0.43715|0.43715	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.367618	.|0.32548	.|N	.|0.005942	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.81239|0.81239	2.535|2.535	0.42232|0.42232	D|D	0.991892|0.991892	.|D;D;D	.|0.65815	.|0.988;0.992;0.995	.|P;P;P	.|0.55545	.|0.703;0.684;0.778	T|T	0.76179|0.76179	-0.3054|-0.3054	5|10	.|0.59425	.|D	.|0.04	-1.1235|-1.1235	11.9109|11.9109	0.52739|0.52739	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|401;400;381	.|C9JEH3;Q13685;C9JG97	.|.;AAMP_HUMAN;.	W|M	155|400;401;381	.|ENSP00000248450:T400M;ENSP00000403343:T401M;ENSP00000416394:T381M	.|ENSP00000248450:T400M	R|T	-|-	1|2	2|0	AAMP|AAMP	218838017|218838017	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.462000|0.462000	0.32619|0.32619	4.520000|4.520000	0.60524|0.60524	0.744000|0.744000	0.32741|0.32741	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.592	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		4	98	4	98	---	---	---	---	A	219129773	G	A	219129773	3	1	314	1	0	0	0	0	1	0	0	0	17	1145	40	2	113	2	AAMP	2	219129773	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	52964575	219129773	24069600	6	11393										
RBM44	375316	broad.mit.edu	37	chr2	238737875	238737875	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttagatatgcatctcttgcTtttacaaaaaacagcgatgc	6	8	1	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000409864.1	+	13	2873	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000316997.4_Silent_p.A873A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					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)		CATCTCTTGCTTTTACAAAAA	0.323																																						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.(2617-2619)gcT>gcC		RNA binding motif protein 44							66	64	64					2																	238737875		1818	4080	5898	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238737875T>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.2619T>C	2.37:g.238737875T>C			Somatic				RBM44_ENST00000409864.1_Silent_p.A873A	p.A873A	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	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	2751	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	872			RRM.		A0AUW3	Silent	SNP	ENST00000409864.1	37	c.2619T>C	CCDS46554.1																																																																																				0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		2	4	2	4	---	---	---	---	C	238737875	T	C	238737875	2	2	314	1	0	0	0	0	0	0	0	1	13138	1596	56	2		2	RBM44	2	238737875	Silent	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	19608102	238737875	4461498	7	11394										
ANKRD28	23243	broad.mit.edu	37	chr3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taaagggcttattgttgctcTattatctgaatcactcagca	7	8	4	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000497037.1_5'UTR|MIR3134_ENST00000579433.1_RNA|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	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	548						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1642-1644)Aga>Tga		ankyrin repeat domain 28							160	148	152					3																	15736275		1878	4116	5994	SO:0001587	stop_gained	23243					nucleoplasm	protein binding	g.chr3:15736275T>A	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.1642A>T	3.37:g.15736275T>A	ENSP00000382379:p.Arg548*		Somatic				ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	p.R548*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			17	2009	-			548					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Nonsense_Mutation	SNP	ENST00000399451.2	37	c.1642A>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	39	7.416826	0.98272	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.58	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.8974	0.58108	0.0:0.0:0.1355:0.8645	.	.	.	.	X	548;581;548	.	ENSP00000373287:R581X	R	-	1	2	ANKRD28	15711279	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	2.562000	0.45914	0.916000	0.36871	0.533000	0.62120	AGA		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		22	30	22	30	---	---	---	---	A	15736275	T	A	15736275	4	1	314	1	0	0	0	0	0	1	0	0	656	1530	53	5	1567	5	ANKRD28	3	15736275	Nonsense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		15736275	182286155	8	11395										
MCM2	4171	broad.mit.edu	37	chr3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctgcaagccaggagacgAgatagtaagtggccggggca	16	9	0	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					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						CCAGGAGACGAGATAGTAAGT	0.642																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1231-1233)gAg>gGg		minichromosome maintenance complex component 2							36	41	39					3																	127327355		2203	4300	6503	SO:0001583	missense	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.chr3:127327355A>G	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.1232A>G	3.37:g.127327355A>G	ENSP00000265056:p.Glu411Gly		Somatic					p.E411G	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			7	1476	+			411					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1232A>G	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.538835|4.538835	0.85917|0.85917	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.29397|.	1.57|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87305|0.87305	0.6144|0.6144	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	P;P;P|.	0.45715|.	0.763;0.865;0.716|.	B;P;P|.	0.54590|.	0.229;0.756;0.653|.	D|D	0.91344|0.91344	0.5099|0.5099	10|5	0.87932|.	D|.	0|.	-42.2017|-42.2017	14.9147|14.9147	0.70785|0.70785	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	392;281;411|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	G|G	411;315;392|274	ENSP00000265056:E411G|.	ENSP00000265056:E411G|.	E|R	+|+	2|1	0|2	MCM2|MCM2	128810045|128810045	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.960000|0.960000	0.62799|0.62799	7.125000|7.125000	0.77193|0.77193	2.004000|2.004000	0.58718|0.58718	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.642	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			16	20	16	20	---	---	---	---	G	127327355	A	G	127327355	3	3	314	1	0	0	0	0	1	0	0	0	9386	304	11	2	1258	2	MCM2	3	127327355	Missense_Mutation	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08	111591080	127327355	70695075	9	11396										
NDST4	64579	broad.mit.edu	37	chr4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtaccaagagtatgccctGtctgaggggtcaatgaggat	14	7	2	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 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)		AGTATGCCCTGTCTGAGGGGT	0.423																																						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.(2092-2094)gaC>gaG		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							122	116	118					4																	115767000		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767000G>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.2094C>G	4.37:g.115767000G>C	ENSP00000264363:p.Asp698Glu		Somatic					p.D698E	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2772	-		Ovarian(17;0.156)	698			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2094C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214702	0.39102	.	.	ENSG00000138653	ENST00000264363	D	0.87334	-2.24	5.61	2.99	0.34606	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	L	0.45352	1.415	0.42707	D	0.993632	B	0.28850	0.225	B	0.34991	0.193	T	0.72564	-0.4255	10	0.30854	T	0.27	.	8.4982	0.33141	0.3599:0.0:0.6401:0.0	.	698	Q9H3R1	NDST4_HUMAN	E	698	ENSP00000264363:D698E	ENSP00000264363:D698E	D	-	3	2	NDST4	115986449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.498000	0.35660	0.328000	0.23435	0.655000	0.94253	GAC		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	40	15	40	---	---	---	---	C	115767000	G	C	115767000	3	2	314	1	0	0	0	0	1	0	0	0	10258	1368	48	4	544	4	NDST4	4	115767000	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		115767000	75387276	10	11397										
PCDHB1	29930	broad.mit.edu	37	chr5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggaattcttactcactgGtcactgacagaagcttggat	10	8	3	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	405	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)			TTACTCACTGGTCACTGACAG	0.483																																						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.(1213-1215)Gtc>Ttc									104	102	103					5																	140432268		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432268G>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.1213G>T	5.37:g.140432268G>T	ENSP00000307234:p.Val405Phe		Somatic					p.V405F	NM_013340.2	NP_037472.2	WXS	Illumina GAIIx	Phase_I	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1290	+			405			Cadherin 4.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1213G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343506	0.24339	.	.	ENSG00000171815	ENST00000306549	T	0.02812	4.15	6.17	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.42821	D	0.000646	T	0.12092	0.0294	M	0.87381	2.88	0.37346	D	0.910592	P	0.45672	0.864	P	0.51487	0.671	T	0.03202	-1.1061	10	0.66056	D	0.02	.	13.2469	0.60028	0.1314:0.0:0.8686:0.0	.	405	Q9Y5F3	PCDB1_HUMAN	F	405	ENSP00000307234:V405F	ENSP00000307234:V405F	V	+	1	0	PCDHB1	140412452	0.971000	0.33674	0.986000	0.45419	0.029000	0.11900	2.199000	0.42715	1.632000	0.50472	-0.140000	0.14226	GTC		0.483	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		27	47	27	47	---	---	---	---	T	140432268	G	T	140432268	3	4	314	1	0	0	0	0	1	0	0	0	11534	1261	44	3	1215	3	PCDHB1	5	140432268	Missense_Mutation	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08		140432268	40482992	11	11398										
SPINK5	11005	broad.mit.edu	37	chr5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgaatttcgaaactataTaaggaacaatgaactcatct	6	7	2	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000256084.7	+	29	2810	c.2768T>C	c.(2767-2769)aTa>aCa	p.I923T	SPINK5_ENST00000359874.3_Missense_Mutation_p.I953T	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACTATATAAGGAACAAT	0.413																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2857-2859)aTa>aCa		serine peptidase inhibitor, Kazal type 5							211	207	208					5																	147505314		1914	4127	6041	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147505314T>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2768T>C	5.37:g.147505314T>C	ENSP00000256084:p.Ile923Thr		Somatic				SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	p.I953T	NM_001127698.1	NP_001121170.1	WXS	Illumina GAIIx	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		30	2931	+			923			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2858T>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248802	0.22880	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06068	3.35;3.35	5.5	0.265	0.15612	Proteinase inhibitor I1, Kazal (1);	2.489640	0.01513	N	0.018001	T	0.05364	0.0142	L	0.29908	0.895	0.09310	N	1	B;B	0.19200	0.015;0.034	B;B	0.23150	0.038;0.044	T	0.37820	-0.9689	10	0.10111	T	0.7	5.8793	4.5343	0.12020	0.0:0.2551:0.1581:0.5867	.	953;923	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	T	953;923	ENSP00000352936:I953T;ENSP00000256084:I923T	ENSP00000256084:I923T	I	+	2	0	SPINK5	147485507	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.192000	0.09587	-0.097000	0.12307	0.533000	0.62120	ATA		0.413	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		60	90	60	90	---	---	---	---	C	147505314	T	C	147505314	3	2	314	1	0	0	0	0	1	0	0	0	15061	1406	49	2	2988	2	SPINK5	5	147505314	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	7073046	147505314	33409946	12	11399										
UBLCP1	134510	broad.mit.edu	37	chr5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgccaaaagttacttggacTcaaagttaaaggtaattctc	7	8	2	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(142-144)cTc>cGc		ubiquitin-like domain containing CTD phosphatase 1							83	80	81					5																	158696066		2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696066T>G	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	28110	protein-coding gene	gene with protein product	"CTD phosphatase-like with ubiquitin domain 1"	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.143T>G	5.37:g.158696066T>G	ENSP00000296786:p.Leu48Arg		Somatic					p.L48R	NM_145049.3	NP_659486.2	WXS	Illumina GAIIx	Phase_I	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	469	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	48			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.143T>G	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577063	0.86645	.	.	ENSG00000164332	ENST00000296786	T	0.45668	0.89	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78084	-0.2342	10	0.72032	D	0.01	-11.6649	16.5494	0.84464	0.0:0.0:0.0:1.0	.	48	Q8WVY7	UBCP1_HUMAN	R	48	ENSP00000296786:L48R	ENSP00000296786:L48R	L	+	2	0	UBLCP1	158628644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.299000	0.77371	0.528000	0.53228	CTC		0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		25	44	25	44	---	---	---	---	G	158696066	T	G	158696066	3	3	314	1	0	0	0	0	1	0	0	0	16888	1551	54	5	145	5	UBLCP1	5	158696066	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	11190752	158696066	22219194	13	11400										
KIFC1	3833	broad.mit.edu	37	chr6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagccacagtgtattccagCtacagatttctggggagcac	11	11	1	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1630-1632)Cta>Ata		kinesin family member C1							96	109	104					6																	33374066		2203	4300	6503	SO:0001583	missense	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.chr6:33374066C>A	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.1630C>A	6.37:g.33374066C>A	ENSP00000393963:p.Leu544Ile		Somatic					p.L544I	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	Q9BW19	KIFC1_HUMAN			8	2080	+			544			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1630C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.984003	0.74474	.	.	ENSG00000237649	ENST00000428849	T	0.42131	0.98	5.11	4.24	0.50183	Kinesin, motor domain (5);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	N	0.11560	0.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.36890	-0.9729	10	0.72032	D	0.01	-0.106	7.6193	0.28177	0.0:0.8136:0.0:0.1864	.	536;544	B4E063;Q9BW19	.;KIFC1_HUMAN	I	544	ENSP00000393963:L544I	ENSP00000393963:L544I	L	+	1	2	KIFC1	33482044	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.125000	0.50469	1.363000	0.46019	0.558000	0.71614	CTA		0.642	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		57	85	57	85	---	---	---	---	A	33374066	C	A	33374066	3	1	314	1	0	0	0	0	1	0	0	0	8312	796	28	3	1660	3	KIFC1	6	33374066	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		33374066	137741001	14	11401										
C6orf170	221322	broad.mit.edu	37	chr6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggtatttcacaaattcaTagctgaaacaaatatttaga	6	5	2	3			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000398212.2	-	2	207	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y53F	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	53					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)										CACAAATTCATAGCTGAAACA	0.318																																						ENST00000275159.6																			0											c.(157-159)tAt>tTt		TBC1 domain family, member 32							99	88	91					6																	121642938		1816	4086	5902	SO:0001583	missense	221322							g.chr6:121642938T>A	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.158A>T	6.37:g.121642938T>A	ENSP00000381270:p.Tyr53Phe		Somatic				TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F	p.Y53F			WXS	Illumina GAIIx	Phase_I					2	157	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.158A>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766117	0.90020	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25085	1.82;1.82;1.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	M	0.66939	2.045	0.47994	D	0.999566	D	0.71674	0.998	D	0.69142	0.962	T	0.39099	-0.9630	10	0.87932	D	0	-0.0318	15.6198	0.76796	0.0:0.0:0.0:1.0	.	53	Q96NH3	BROMI_HUMAN	F	53	ENSP00000275159:Y53F;ENSP00000381270:Y53F;ENSP00000397993:Y53F	ENSP00000275159:Y53F	Y	-	2	0	C6orf170	121684637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.029000	0.76477	2.108000	0.64289	0.533000	0.62120	TAT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		29	44	29	44	---	---	---	---	A	121642938	T	A	121642938	3	1	314	1	0	0	0	0	1	0	0	0	2344	1406	49	5	3739	5	C6orf170	6	121642938	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	88268872	121642938	49472129	15	11402										
BMPER	168667	broad.mit.edu	37	chr7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaagggaaggtgcatcaagCcagtcctttgtccccagcgg	12	12	1	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				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						GTGCATCAAGCCAGTCCTTTG	0.507																																						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.(2035-2037)Cca>Aca		BMP binding endothelial regulator							144	113	124					7																	34192862		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.chr7:34192862C>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.2035C>A	7.37:g.34192862C>A	ENSP00000297161:p.Pro679Thr		Somatic				BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	p.P679T	NM_133468.4	NP_597725.1	WXS	Illumina GAIIx	Phase_I	Q8N8U9	BMPER_HUMAN			16	2409	+			679			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.2035C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869224	0.91587	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.79845	-1.31;-1.31	6.03	6.03	0.97812	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85387	0.1123	10	0.13470	T	0.59	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	679	Q8N8U9	BMPER_HUMAN	T	679	ENSP00000297161:P679T;ENSP00000393950:P679T	ENSP00000297161:P679T	P	+	1	0	BMPER	34159387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.868000	0.98415	0.557000	0.71058	CCA		0.507	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	37	18	37	---	---	---	---	A	34192862	C	A	34192862	3	1	314	1	0	0	0	0	1	0	0	0	1468	739	26	3	2093	3	BMPER	7	34192862	Missense_Mutation	SNP	C	TCGA-YL-A8SA-01A-21D-A377-08		34192862	124945801	16	11403										
PTN	5764	broad.mit.edu	37	chr7	136936041	136936041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgacagtcttctggcattcGgcattgtgcagggctcgctt	13	10	2	1			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					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						TCTGGCATTCGGCATTGTGCA	0.507																																						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.(385-387)gcC>gcT		pleiotrophin							305	278	287					7																	136936041		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:136936041G>A	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.387C>T	7.37:g.136936041G>A			Somatic				PTN_ENST00000393083.2_Silent_p.A129A	p.A129A	NM_002825.5	NP_002816.1	WXS	Illumina GAIIx	Phase_I	P21246	PTN_HUMAN			4	814	-			129					Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.387C>T	CCDS5844.1																																																																																				0.507	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		61	104	61	104	---	---	---	---	A	136936041	G	A	136936041	2	1	314	1	0	0	0	0	0	0	0	1	12768	1103	39	2		2	PTN	7	136936041	Silent	SNP	G	TCGA-YL-A8SA-01A-21D-A377-08	102743179	136936041	22202622	17	11404										
PUS7L	83448	broad.mit.edu	37	chr12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-													0	0	1	0	0	0	1	1	0	ttttatagtgccatgaaatcCaacgtgatcattaaagaaac					rs145711853|rs201700465	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					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)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.33																																						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.(52-66)aatgatcacgttgga>aga		pseudouridylate synthase 7 homolog (S. cerevisiae)-like																																				SO:0001651	inframe_deletion	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148985_44148996delCAACGTGATCAT	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.53_64delATGATCACGTTG	12.37:g.44148985_44148996delCAACGTGATCAT	ENSP00000415899:p.Asn18_Gly22delinsArg		Somatic				PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron	p.18_22NDHVG>R	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	WXS	Illumina GAIIx	Phase_I	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	541_552	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	18					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	In_Frame_Del	DEL	ENST00000416848.2	37	c.53_64delATGATCACGTTG	CCDS8743.1																																																																																				0.33	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		10	17	10	17	---	---	---	---	-	44148996	CAACGTGATCAT	-	44148985	7	5	314	1	0	1	0	1	0	0	0	0	12834	603	21	0	2073	0	PUS7L	12	44148985	In_Frame_Del	DEL	CAACGTGATCAT	TCGA-YL-A8SA-01A-21D-A377-08		44148985	89702910	18	11405										
CTAGE5	4253	broad.mit.edu	37	chr14	39769118	39769118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtgagtgaacttaataaAcagaaagtaacatttgaaga	8	4	0	5			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000280083.3	+	9	1037	c.723A>G	c.(721-723)aaA>aaG	p.K241K	CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000348007.3_Silent_p.K241K|RP11-407N17.3_ENST00000553728.1_Silent_p.K776K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000341502.5_Silent_p.K241K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341749.3_Silent_p.K229K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K			O15320	CTGE5_HUMAN	CTAGE family, member 5	241					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AACTTAATAAACAGAAAGTAA	0.323																																						ENST00000553728.1																			0											c.(2326-2328)aaA>aaG									127	132	130					14																	39769118		2203	4297	6500	SO:0001819	synonymous_variant	4253							g.chr14:39769118A>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.723A>G	14.37:g.39769118A>G			Somatic				CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341502.5_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K	p.K776K			WXS	Illumina GAIIx	Phase_I					13	2541	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2328A>G	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		28	32	28	32	---	---	---	---	G	39769118	A	G	39769118	2	3	314	1	0	0	0	0	0	0	0	1	3994	40	2	2		2	CTAGE5	14	39769118	Silent	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08		39769118	67580422	19	11406										
TRIM9	114088	broad.mit.edu	37	chr14	51560842	51560842	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttaggactcaccttatgTagtttccacatggcccccag	7	13	2	0			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000360392.4_Silent_p.L272L|RP11-1140I5.1_ENST00000554475.1_RNA|TRIM9_ENST00000338969.5_Silent_p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					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)					TCACCTTATGTAGTTTCCACA	0.567																																						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.(814-816)ctA>ctT		tripartite motif containing 9							153	131	139					14																	51560842		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.chr14:51560842T>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.816A>T	14.37:g.51560842T>A			Somatic				TRIM9_ENST00000360392.4_Silent_p.L272L|TRIM9_ENST00000338969.5_Silent_p.L272L	p.L272L	NM_015163.5	NP_055978.4	WXS	Illumina GAIIx	Phase_I	Q9C026	TRIM9_HUMAN			1	1937	-	all_epithelial(31;0.00418)|Breast(41;0.148)		272					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.816A>T	CCDS9703.1																																																																																				0.567	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		20	31	20	31	---	---	---	---	A	51560842	T	A	51560842	2	1	314	1	0	0	0	0	0	0	0	1	16546	1625	57	5		5	TRIM9	14	51560842	Silent	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08	11791724	51560842	55788698	20	11407										
EFCAB5	374786	broad.mit.edu	37	chr17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccctccaagactgacaatTatatgtatgcaaaaatgcca	6	10	0	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							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						GACTGACAATTATATGTATGC	0.373																																						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.(4468-4470)Tat>Cat		EF-hand calcium binding domain 5							159	147	151					17																	28434998		1869	4110	5979	SO:0001583	missense	374786						calcium ion binding	g.chr17:28434998T>C	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.4468T>C	17.37:g.28434998T>C	ENSP00000378312:p.Tyr1490His		Somatic				EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	p.Y1490H	NM_198529.3	NP_940931	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			23	4660	+			1490					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4468T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230197	0.22542	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000419434	T;T;T;T	0.18338	2.93;2.94;2.22;2.95	3.62	-1.43	0.08884	.	2.405150	0.01464	N	0.015983	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.14023	0.01;0.01;0.01	T	0.28170	-1.0052	10	0.52906	T	0.07	6.5629	2.463	0.04546	0.3426:0.216:0.0:0.4414	.	962;1366;1490	B5MEA3;E7EVS9;A4FU69	.;.;EFCB5_HUMAN	H	1490;1366;962;1172	ENSP00000378312:Y1490H;ENSP00000322003:Y1366H;ENSP00000378309:Y962H;ENSP00000417009:Y1172H	ENSP00000322003:Y1366H	Y	+	1	0	EFCAB5	25459124	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.090000	0.11163	-0.341000	0.08376	0.533000	0.62120	TAT		0.373	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		34	51	34	51	---	---	---	---	C	28434998	T	C	28434998	3	2	314	1	0	0	0	0	1	0	0	0	4938	1754	61	2	4725	2	EFCAB5	17	28434998	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		28434998	52760212	21	11408										
ZNF99	7652	broad.mit.edu	37	chr19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgctctgatctggccaaaAgtcttgtgtaaaatgagaac	9	7	3	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000596209.1	-	4	343	c.253T>A	c.(253-255)Ttt>Att	p.F85I	ZNF99_ENST00000397104.3_Missense_Mutation_p.F106I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	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)			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)				TCTGGCCAAAAGTCTTGTGTA	0.289																																						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.(316-318)Ttt>Att		zinc finger protein 99							45	40	42					19																	22942458		1821	4094	5915	SO:0001583	missense	7652							g.chr19:22942458A>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.253T>A	19.37:g.22942458A>T	ENSP00000472969:p.Phe85Ile		Somatic				ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I	p.F106I			WXS	Illumina GAIIx	Phase_I					4	315	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.316T>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.040	-1.289906	0.01387	.	.	ENSG00000213973	ENST00000397104	T	0.05855	3.38	0.937	-0.922	0.10468	.	.	.	.	.	T	0.02727	0.0082	N	0.05510	-0.035	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.46748	-0.9169	9	0.20519	T	0.43	.	3.9849	0.09511	0.7219:0.0:0.2781:0.0	.	106	A8MXY4	ZNF99_HUMAN	I	106	ENSP00000380293:F106I	ENSP00000380293:F106I	F	-	1	0	ZNF99	22734298	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-3.039000	0.00633	-1.290000	0.02372	-1.304000	0.01323	TTT		0.289	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	7	6	7	---	---	---	---	T	22942458	A	T	22942458	3	4	314	1	0	0	0	0	1	0	0	0	18201	72	3	5	2812	5	ZNF99	19	22942458	Missense_Mutation	SNP	A	TCGA-YL-A8SA-01A-21D-A377-08		22942458	36186525	22	11409										
ARHGAP36	158763	broad.mit.edu	37	chrX	130217750	130217750	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattagcctggaagaggtccTggtgaacgagtttacccgcc	12	11	0	2			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q|ARHGAP36_ENST00000370921.1_5'UTR	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					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(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552																																						ENST00000276211.5																			0				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.(361-363)cTg>cAg		Rho GTPase activating protein 36							132	126	128					X																	130217750		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:130217750T>A		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.362T>A	X.37:g.130217750T>A	ENSP00000276211:p.Leu121Gln		Somatic				ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	p.L121Q	NM_144967.3	NP_659404.2	WXS	Illumina GAIIx	Phase_I	Q6ZRI8	RHG36_HUMAN			4	707	+			121					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.362T>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138823	0.37728	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.14144	2.53;2.54;2.57	4.3	4.3	0.51218	Rho GTPase-activating protein domain (1);	0.240961	0.22239	N	0.062704	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.87578	0.994;0.998;0.986	T	0.02385	-1.1167	10	0.72032	D	0.01	.	8.818	0.35007	0.0:0.0:0.0:1.0	.	90;109;121	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	121;109;73;90	ENSP00000276211:L121Q;ENSP00000359960:L109Q;ENSP00000408515:L90Q	ENSP00000276211:L121Q	L	+	2	0	ARHGAP36	130045431	1.000000	0.71417	0.913000	0.36048	0.023000	0.10783	3.028000	0.49705	1.903000	0.55091	0.486000	0.48141	CTG		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		54	19	54	19	---	---	---	---	A	130217750	T	A	130217750	3	1	314	1	0	0	0	0	1	0	0	0	883	1580	55	5	372	5	ARHGAP36	23	130217750	Missense_Mutation	SNP	T	TCGA-YL-A8SA-01A-21D-A377-08		130217750	25052810	23	11410										
KLHDC7A	127707	broad.mit.edu	37	chr1	18809302	18809302	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gagcgttacgacccccgcctGgaccgctgggactttgcccc	12	17	0	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:18809302G>C	ENST00000400664.1	+	1	1879	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	609						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)		ACCCCCGCCTGGACCGCTGGG	0.701																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1825-1827)ctG>ctC		kelch domain containing 7A							23	24	24					1																	18809302		2202	4295	6497	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809302G>C	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.1827G>C	1.37:g.18809302G>C			Somatic					p.L609L	NM_152375.2	NP_689588.2	WXS	Illumina GAIIx	Phase_I	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	1879	+		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)	609					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1827G>C	CCDS185.2																																																																																				0.701	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		5	11	5	11	---	---	---	---	C	18809302	G	C	18809302	2	2	315	1	0	0	0	0	0	0	0	1	8360	1335	47	4		4	KLHDC7A	1	18809302	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		18809302	230441319	1	11411										
MOBKL2C	148932	broad.mit.edu	37	chr1	47075780	47075780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ctgcccccatgctgaggatgCtatcgaagtggtggatgtag	14	9	0	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:47075780C>T	ENST00000319928.3	-	3	745	c.515G>A	c.(514-516)aGc>aAc	p.S172N	MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000371940.1_Missense_Mutation_p.S195N	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	172							metal ion binding (GO:0046872)										GCTGAGGATGCTATCGAAGTG	0.557																																						ENST00000371940.1																			0											c.(583-585)aGc>aAc		MOB kinase activator 3C							136	127	130					1																	47075780		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47075780C>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.515G>A	1.37:g.47075780C>T	ENSP00000315113:p.Ser172Asn		Somatic				MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N	p.S195N			WXS	Illumina GAIIx	Phase_I	Q70IA8	MOL2C_HUMAN			2	3658	-			172					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.584G>A	CCDS540.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516237	0.64634	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.19	5.19	0.71726	.	0.217239	0.56097	D	0.000034	T	0.42131	0.1189	N	0.19112	0.55	0.47621	D	0.999473	B	0.02656	0.0	B	0.11329	0.006	T	0.23833	-1.0177	9	0.25106	T	0.35	-37.89	13.7558	0.62935	0.0:0.8461:0.1539:0.0	.	172	Q70IA8	MOB3C_HUMAN	N	172;224;195	.	ENSP00000271139:S224N	S	-	2	0	MOBKL2C	46848367	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.733000	0.62036	2.571000	0.86741	0.561000	0.74099	AGC		0.557	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279		4	95	4	95	---	---	---	---	T	47075780	C	T	47075780	3	4	315	1	0	0	0	0	1	0	0	0	9686	797	28	2	143	2	MOBKL2C	1	47075780	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08	28266478	47075780	202174841	2	11412										
KCNC4	3749	broad.mit.edu	37	chr1	110774894	110774894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gcattcacctgaggctgcatGccctccaactgctgggactc	10	15	1	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr1:110774894G>T	ENST00000369787.3	+	4	1898	c.1871G>T	c.(1870-1872)tGc>tTc	p.C624F	KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	624					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)		GAGGCTGCATGCCCTCCAACT	0.547																																						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.(1870-1872)tGc>tTc		potassium voltage-gated channel, Shaw-related subfamily, member 4							92	68	76					1																	110774894		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110774894G>T	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.1871G>T	1.37:g.110774894G>T	ENSP00000358802:p.Cys624Phe		Somatic				KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron	p.C624F	NM_004978.4	NP_004969.2	WXS	Illumina GAIIx	Phase_I	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)	4	1898	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	624					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.1871G>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292140	0.40594	.	.	ENSG00000116396	ENST00000369787	D	0.97688	-4.49	2.21	-0.923	0.10465	.	7739.210000	0.00166	N	0.000000	D	0.85767	0.5773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.83929	0.0305	10	0.41790	T	0.15	.	5.019	0.14352	0.5194:0.0:0.4806:0.0	.	624	Q03721	KCNC4_HUMAN	F	624	ENSP00000358802:C624F	ENSP00000358802:C624F	C	+	2	0	KCNC4	110576417	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.290000	0.18975	-0.246000	0.09611	0.655000	0.94253	TGC		0.547	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	11	3	11	---	---	---	---	T	110774894	G	T	110774894	3	4	315	1	0	0	0	0	1	0	0	0	8017	1319	46	3	2019	3	KCNC4	1	110774894	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	63699114	110774894	138475727	3	11413										
PGAP1	80055	broad.mit.edu	37	chr2	197791205	197791205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gaaccttacctgatactccgGgtactcaaacatgtagctca	7	12	2	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:197791205G>C	ENST00000354764.4	-	1	250	c.136C>G	c.(136-138)Ccg>Gcg	p.P46A	PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TGATACTCCGGGTACTCAAAC	0.542																																						ENST00000354764.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(136-138)Ccg>Gcg		post-GPI attachment to proteins 1							194	213	207					2																	197791205		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791205G>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.136C>G	2.37:g.197791205G>C	ENSP00000346809:p.Pro46Ala		Somatic				PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A	p.P46A	NM_024989.3	NP_079265.2	WXS	Illumina GAIIx	Phase_I	Q75T13	PGAP1_HUMAN			1	250	-								Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.136C>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404371	0.62288	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.911;0.991	T	0.78969	-0.1994	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	A	46	.	ENSP00000346809:P46A	P	-	1	0	PGAP1	197499450	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG		0.542	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		7	212	7	212	---	---	---	---	C	197791205	G	C	197791205	3	2	315	1	0	0	0	0	1	0	0	0	11777	1232	43	4	2740	4	PGAP1	2	197791205	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		197791205	45408168	4	11414										
AOX1	316	broad.mit.edu	37	chr2	201499584	201499584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	atgcttgtcgttcccaagggAgaggatcaagaaatggatgt	13	6	1	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:201499584A>G	ENST00000374700.2	+	21	2533	c.2292A>G	c.(2290-2292)ggA>ggG	p.G764G	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	764					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)	TTCCCAAGGGAGAGGATCAAG	0.413																																						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.(2290-2292)ggA>ggG		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)						120	117	118					2																	201499584		2203	4300	6503	SO:0001819	synonymous_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.chr2:201499584A>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.2292A>G	2.37:g.201499584A>G			Somatic				AOX1_ENST00000485106.1_3'UTR	p.G764G	NM_001159.3	NP_001150.3	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			21	2533	+			764					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2292A>G	CCDS33360.1																																																																																				0.413	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		3	51	3	51	---	---	---	---	G	201499584	A	G	201499584	2	3	315	1	0	0	0	0	0	0	0	1	729	291	11	2		2	AOX1	2	201499584	Silent	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08	3708379	201499584	41699789	5	11415										
CFLAR	8837	broad.mit.edu	37	chr2	202025331	202025331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gctcccagagtgtgtatggtGtggatcagactcactcaggg	14	9	3	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr2:202025331G>A	ENST00000309955.3	+	9	1485	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	324	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|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						TGTGTATGGTGTGGATCAGAC	0.522																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(970-972)Gtg>Atg		CASP8 and FADD-like apoptosis regulator							147	130	136					2																	202025331		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.chr2:202025331G>A	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.970G>A	2.37:g.202025331G>A	ENSP00000312455:p.Val324Met		Somatic				CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M	p.V324M	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	WXS	Illumina GAIIx	Phase_I	O15519	CFLAR_HUMAN			9	1485	+						Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|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.970G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588551	0.28357	.	.	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	5.62	1.66	0.24008	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.603736	0.17573	N	0.169415	T	0.38639	0.1048	M	0.79475	2.455	0.09310	N	1	D;D;D;D	0.69078	0.961;0.997;0.967;0.994	D;D;P;D	0.67900	0.929;0.954;0.859;0.954	T	0.12344	-1.0551	10	0.56958	D	0.05	-3.1191	4.7893	0.13241	0.3955:0.0:0.4648:0.1397	.	228;324;289;324	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	M	324;228;324;210;289;324;324	ENSP00000312455:V324M;ENSP00000413270:V228M;ENSP00000339326:V324M;ENSP00000345807:V289M;ENSP00000399420:V324M;ENSP00000411535:V324M	ENSP00000312455:V324M	V	+	1	0	CFLAR	201733576	0.006000	0.16342	0.065000	0.19835	0.006000	0.05464	0.619000	0.24388	0.287000	0.22375	-0.324000	0.08512	GTG		0.522	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		14	75	14	75	---	---	---	---	A	202025331	G	A	202025331	3	1	315	1	0	0	0	0	1	0	0	0	3292	1377	48	2	1064	2	CFLAR	2	202025331	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	525747	202025331	41174042	6	11416										
PFKFB4	5210	broad.mit.edu	37	chr3	48573816	48573816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	tgttcatgaggtaatatacgAtgcggctctggatgtggtca	13	6	3	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr3:48573816A>G	ENST00000232375.3	-	8	825	c.713T>C	c.(712-714)aTc>aCc	p.I238T	PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	238	6-phosphofructo-2-kinase.				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)		GTAATATACGATGCGGCTCTG	0.577																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(712-714)aTc>aCc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							155	150	152					3																	48573816		2203	4300	6503	SO:0001583	missense	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48573816A>G	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.713T>C	3.37:g.48573816A>G	ENSP00000232375:p.Ile238Thr		Somatic				PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T	p.I238T	NM_004567.2	NP_004558.1	WXS	Illumina GAIIx	Phase_I	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	8	825	-			238			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Missense_Mutation	SNP	ENST00000232375.3	37	c.713T>C	CCDS2771.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855849	0.71834	.	.	ENSG00000114268	ENST00000232375;ENST00000536104;ENST00000416568;ENST00000383734;ENST00000541519;ENST00000452531	.	.	.	4.43	4.43	0.53597	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.61703	1.905	0.80722	D	1	P;D;D;P	0.76494	0.918;0.997;0.999;0.497	D;D;D;B	0.91635	0.915;0.996;0.999;0.398	T	0.68179	-0.5477	9	0.31617	T	0.26	-25.7242	11.9766	0.53096	1.0:0.0:0.0:0.0	.	227;238;238;238	B7Z5C3;Q5XLC2;Q66S35;Q16877	.;.;.;F264_HUMAN	T	238;227;238;238;204;227	.	ENSP00000232375:I238T	I	-	2	0	PFKFB4	48548820	1.000000	0.71417	0.889000	0.34880	0.934000	0.57294	5.112000	0.64634	1.999000	0.58509	0.459000	0.35465	ATC		0.577	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		24	98	24	98	---	---	---	---	G	48573816	A	G	48573816	3	3	315	1	0	0	0	0	1	0	0	0	11763	333	12	2	724	2	PFKFB4	3	48573816	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08		48573816	149448614	7	11417										
POLR2B	5431	broad.mit.edu	37	chr4	57856954	57856954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gcttggttagacaacagctgGattcttttgatgagtttatt	10	5	1	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:57856954G>T	ENST00000381227.1	+	4	546	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	45					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)					ACAACAGCTGGATTCTTTTGA	0.408																																						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.(133-135)Gat>Tat		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							135	136	136					4																	57856954		2203	4300	6503	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.chr4:57856954G>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.133G>T	4.37:g.57856954G>T	ENSP00000370625:p.Asp45Tyr		Somatic				POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y	p.D45Y			WXS	Illumina GAIIx	Phase_I	P30876	RPB2_HUMAN			4	546	+	Glioma(25;0.08)|all_neural(26;0.181)		45					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.133G>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061513	0.93846	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.9	5.9	0.94986	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.93451	0.6802	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	45	P30876	RPB2_HUMAN	Y	45;45;38;38;45	ENSP00000408638:D45Y;ENSP00000370625:D45Y;ENSP00000391452:D38Y;ENSP00000407728:D38Y;ENSP00000312735:D45Y	ENSP00000312735:D45Y	D	+	1	0	POLR2B	57551711	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.859000	0.99545	2.806000	0.96561	0.655000	0.94253	GAT		0.408	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		30	96	30	96	---	---	---	---	T	57856954	G	T	57856954	3	4	315	1	0	0	0	0	1	0	0	0	12215	1174	41	3	143	3	POLR2B	4	57856954	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		57856954	133297322	8	11418										
UGT2B15	7366	broad.mit.edu	37	chr4	69535901	69535901	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	atctgccagaatgacatcaaActttgactcttgtagtttca	6	9	4	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:69535901A>T	ENST00000338206.5	-	1	445	c.436T>A	c.(436-438)Ttt>Att	p.F146I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	146					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)	ATGACATCAAACTTTGACTCT	0.373																																						ENST00000338206.5																			0											c.(436-438)Ttt>Att		UDP glucuronosyltransferase 2 family, polypeptide B15							206	213	211					4																	69535901		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535901A>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.436T>A	4.37:g.69535901A>T	ENSP00000341045:p.Phe146Ile		Somatic					p.F146I	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	P54855	UDB15_HUMAN			1	445	-			146					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.436T>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339991	0.41398	.	.	ENSG00000196620	ENST00000338206	T	0.63580	-0.05	2.79	2.79	0.32731	.	0.277522	0.29616	U	0.011645	T	0.81088	0.4750	M	0.93720	3.45	0.27031	N	0.964248	D	0.76494	0.999	D	0.74023	0.982	T	0.72896	-0.4153	10	0.87932	D	0	.	8.9997	0.36074	1.0:0.0:0.0:0.0	.	146	P54855	UDB15_HUMAN	I	146	ENSP00000341045:F146I	ENSP00000341045:F146I	F	-	1	0	UGT2B15	69218496	1.000000	0.71417	0.259000	0.24435	0.075000	0.17131	7.976000	0.88070	1.259000	0.44117	0.363000	0.22086	TTT		0.373	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		12	307	12	307	---	---	---	---	T	69535901	A	T	69535901	3	4	315	1	0	0	0	0	1	0	0	0	16955	43	2	5	2797	5	UGT2B15	4	69535901	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08	11678947	69535901	121618375	9	11419										
NPY2R	4887	broad.mit.edu	37	chr4	156135918	156135918	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gctggtgtgtgtggtggtggTgtttgcggtcagctggctgc	20	6	1	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr4:156135918T>A	ENST00000329476.3	+	2	1316	c.827T>A	c.(826-828)gTg>gAg	p.V276E	NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	276					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)	GTGGTGGTGGTGTTTGCGGTC	0.512																																						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.(826-828)gTg>gAg		neuropeptide Y receptor Y2							108	100	103					4																	156135918		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.chr4:156135918T>A	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.827T>A	4.37:g.156135918T>A	ENSP00000332591:p.Val276Glu		Somatic				NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E	p.V276E	NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	1316	+	all_hematologic(180;0.24)	Renal(120;0.0854)	276					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.827T>A	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040868	0.75732	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.58506	0.33;0.33	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84807	0.0788	10	0.87932	D	0	.	15.5947	0.76569	0.0:0.0:0.0:1.0	.	276	P49146	NPY2R_HUMAN	E	276	ENSP00000332591:V276E;ENSP00000426366:V276E	ENSP00000332591:V276E	V	+	2	0	NPY2R	156355368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.289000	0.72696	2.274000	0.75844	0.523000	0.50628	GTG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		7	33	7	33	---	---	---	---	A	156135918	T	A	156135918	3	1	315	1	0	0	0	0	1	0	0	0	10609	1696	59	5	829	5	NPY2R	4	156135918	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08	86600017	156135918	35018358	10	11420										
DNAH8	1769	broad.mit.edu	37	chr6	38877389	38877389	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	cgctggccaagggaggctctGattgctgtggcctcctactt	13	12	1	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr6:38877389G>T	ENST00000359357.3	+	63	9212	c.8958G>T	c.(8956-8958)ctG>ctT	p.L2986L	DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2986	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						GGGAGGCTCTGATTGCTGTGG	0.453																																						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.(8956-8958)ctG>ctT		dynein, axonemal, heavy chain 8							135	126	129					6																	38877389		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38877389G>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.8958G>T	6.37:g.38877389G>T			Somatic				DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L	p.L2986L			WXS	Illumina GAIIx	Phase_I					63	9212	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.8958G>T																																																																																					0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	74	5	74	---	---	---	---	T	38877389	G	T	38877389	2	4	315	1	0	0	0	0	0	0	0	1	4607	1277	45	3		3	DNAH8	6	38877389	Silent	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		38877389	132237678	11	11421										
SMC2	10592	broad.mit.edu	37	chr9	106858474	106858474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	tagtttacaaaaatgggcagGctggtattaccaaagcctct	9	8	1	0			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr9:106858474G>C	ENST00000286398.7	+	3	502	c.214G>C	c.(214-216)Gct>Cct	p.A72P	SMC2_ENST00000374793.3_Missense_Mutation_p.A72P|SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P	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	72					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						AAATGGGCAGGCTGGTATTAC	0.343																																						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.(214-216)Gct>Cct		structural maintenance of chromosomes 2							97	103	101					9																	106858474		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.chr9:106858474G>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.214G>C	9.37:g.106858474G>C	ENSP00000286398:p.Ala72Pro		Somatic				SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P	p.A72P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			3	502	+			72					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.214G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681901	0.88542	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.43	4.48	0.54585	RecF/RecN/SMC (1);	0.049725	0.85682	D	0.000000	T	0.78886	0.4354	M	0.67700	2.07	0.58432	D	0.999998	P;D	0.71674	0.604;0.998	P;D	0.74674	0.524;0.984	T	0.81037	-0.1114	10	0.87932	D	0	-11.9491	13.7096	0.62661	0.0:0.0:0.8452:0.1548	.	72;72	O95347;Q2KQ72	SMC2_HUMAN;.	P	72	ENSP00000286398:A72P;ENSP00000363925:A72P;ENSP00000306152:A72P;ENSP00000363919:A72P	ENSP00000286398:A72P	A	+	1	0	SMC2	105898295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.850000	0.86915	2.543000	0.85770	0.655000	0.94253	GCT		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			22	77	22	77	---	---	---	---	C	106858474	G	C	106858474	3	2	315	1	0	0	0	0	1	0	0	0	14783	1203	42	4	220	4	SMC2	9	106858474	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08		106858474	34354957	12	11422										
APBB1IP	54518	broad.mit.edu	37	chr10	26785235	26785235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ggggatcttttttcacagagTttaggagttgacactctccc	10	9	3	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:26785235T>C	ENST00000376236.4	+	4	530	c.75T>C	c.(73-75)agT>agC	p.S25S	APBB1IP_ENST00000356785.4_Silent_p.S25S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	25					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						TTTCACAGAGTTTAGGAGTTG	0.378																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(73-75)agT>agC		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							91	90	91					10																	26785235		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785235T>C	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.75T>C	10.37:g.26785235T>C			Somatic				APBB1IP_ENST00000356785.4_Silent_p.S25S	p.S25S	NM_019043.3	NP_061916.3	WXS	Illumina GAIIx	Phase_I	Q7Z5R6	AB1IP_HUMAN			4	530	+			25					Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.75T>C	CCDS31167.1																																																																																				0.378	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	61	4	61	---	---	---	---	C	26785235	T	C	26785235	2	2	315	1	0	0	0	0	0	0	0	1	760	1722	60	2		2	APBB1IP	10	26785235	Silent	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08		26785235	108749512	13	11423										
PPIF	10105	broad.mit.edu	37	chr10	81113578	81113578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ccaagaagattgtcatcacaGactgtggccagttgagctaa	10	9	2	4			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr10:81113578G>A	ENST00000225174.3	+	6	675	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	TGTCATCACAGACTGTGGCCA	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(604-606)Gac>Aac		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						114	94	100					10																	81113578		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113578G>A	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"cyclophilin D"	604486	"peptidylprolyl isomerase F (cyclophilin F)"			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.604G>A	10.37:g.81113578G>A	ENSP00000225174:p.Asp202Asn		Somatic				PPIF_ENST00000394579.3_3'UTR	p.D202N	NM_005729.3	NP_005720.1	WXS	Illumina GAIIx	Phase_I	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	675	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		202			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.604G>A	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652721	0.88056	.	.	ENSG00000108179	ENST00000225174	T	0.43688	0.94	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.045464	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25286	0.73	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50759	-0.8790	10	0.42905	T	0.14	-51.3002	19.3509	0.94384	0.0:0.0:1.0:0.0	.	202	P30405	PPIF_HUMAN	N	202	ENSP00000225174:D202N	ENSP00000225174:D202N	D	+	1	0	PPIF	80783584	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.570000	0.82390	2.655000	0.90218	0.655000	0.94253	GAC		0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		6	40	6	40	---	---	---	---	A	81113578	G	A	81113578	3	1	315	1	0	0	0	0	1	0	0	0	12323	942	33	2	626	2	PPIF	10	81113578	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	54328343	81113578	54421169	14	11424										
GDPD4	220032	broad.mit.edu	37	chr11	76980034	76980034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	attctccttctcctgaatgcAgggagaataaatccccagtg	8	11	2	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr11:76980034A>C	ENST00000376217.2	-	8	809	c.559T>G	c.(559-561)Tgc>Ggc	p.C187G	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.C187G			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	187					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCTGAATGCAGGGAGAATAA	0.438																																						ENST00000315938.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(559-561)Tgc>Ggc		glycerophosphodiester phosphodiesterase domain containing 4							114	110	112					11																	76980034		2200	4292	6492	SO:0001583	missense	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76980034A>C	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.559T>G	11.37:g.76980034A>C	ENSP00000365390:p.Cys187Gly		Somatic				GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G	p.C187G	NM_182833.1	NP_878253.1	WXS	Illumina GAIIx	Phase_I	Q6W3E5	GDPD4_HUMAN			8	809	-			187					Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37	c.559T>G		.	.	.	.	.	.	.	.	.	.	A	18.80	3.701994	0.68501	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.18016	2.24;2.31	5.07	5.07	0.68467	.	0.048437	0.85682	D	0.000000	T	0.44244	0.1284	M	0.82193	2.58	0.39621	D	0.970035	D	0.89917	1.0	D	0.87578	0.998	T	0.51395	-0.8711	10	0.72032	D	0.01	-20.3193	12.4733	0.55799	1.0:0.0:0.0:0.0	.	187	Q6W3E5-2	.	G	187	ENSP00000365390:C187G;ENSP00000320815:C187G	ENSP00000320815:C187G	C	-	1	0	GDPD4	76657682	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.346000	0.72999	2.136000	0.66102	0.533000	0.62120	TGC		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		53	94	53	94	---	---	---	---	C	76980034	A	C	76980034	3	2	315	1	0	0	0	0	1	0	0	0	6326	188	7	5	1039	5	GDPD4	11	76980034	Missense_Mutation	SNP	A	TCGA-YL-A8SB-01A-31D-A377-08		76980034	58026482	15	11425										
MLL2	8085	broad.mit.edu	37	chr12	49434822	49434822	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	aggggcagcggggtttgaggAatgggtcaggtgtggagggc							TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:49434822delA	ENST00000301067.7	-	31	6730	c.6731delT	c.(6730-6732)ttcfs	p.F2244fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2244	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)										GGGTTTGAGGAATGGGTCAGG	0.662																																						ENST00000301067.7																			0											c.(6730-6732)ttcfs		lysine (K)-specific methyltransferase 2D							46	52	50					12																	49434822		1932	4130	6062	SO:0001589	frameshift_variant	8085							g.chr12:49434822delA	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.6731delT	12.37:g.49434822delA	ENSP00000301067:p.Phe2244fs		Somatic					p.F2244fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					31	6730	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6731delT	CCDS44873.1																																																																																				0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	41	11	41	---	---	---	---	-	49434822	A	-	49434822	7	5	315	1	0	1	0	1	0	0	0	0	9621	246	9	0	9978	0	MLL2	12	49434822	Frame_Shift_Del	DEL	A	TCGA-YL-A8SB-01A-31D-A377-08		49434822	84417073	16	11426										
IGFBP6	3489	broad.mit.edu	37	chr12	53494618	53494618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	cgccctcccagcccaattctGcgggtgtccaagacactgag	10	16	1	2			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr12:53494618G>A	ENST00000301464.3	+	2	730	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	IGFBP6_ENST00000549628.1_3'UTR|SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000548547.1_Missense_Mutation_p.A151T	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	153					cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCCCAATTCTGCGGGTGTCCA	0.602																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(451-453)Gcg>Acg		insulin-like growth factor binding protein 6							91	90	90					12																	53494618		2203	4300	6503	SO:0001583	missense	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53494618G>A		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.457G>A	12.37:g.53494618G>A	ENSP00000301464:p.Ala153Thr		Somatic				IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR	p.A151T			WXS	Illumina GAIIx	Phase_I	P24592	IBP6_HUMAN			2	733	+			153					Q14492	Missense_Mutation	SNP	ENST00000301464.3	37	c.451G>A	CCDS8846.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095087	0.20471	.	.	ENSG00000167779	ENST00000548547;ENST00000301464	T;T	0.61859	0.07;0.07	4.6	4.6	0.57074	Thyroglobulin type-1 (1);	1.769110	0.03092	N	0.159991	T	0.44222	0.1283	N	0.14661	0.345	0.09310	N	1	B	0.33073	0.396	B	0.32211	0.142	T	0.28038	-1.0056	10	0.13470	T	0.59	-7.7634	13.1109	0.59273	0.0:0.0:1.0:0.0	.	153	P24592	IBP6_HUMAN	T	151;153	ENSP00000448953:A151T;ENSP00000301464:A153T	ENSP00000301464:A153T	A	+	1	0	IGFBP6	51780885	0.856000	0.29760	0.079000	0.20413	0.045000	0.14185	4.321000	0.59209	2.564000	0.86499	0.655000	0.94253	GCG		0.602	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			14	66	14	66	---	---	---	---	A	53494618	G	A	53494618	3	1	315	1	0	0	0	0	1	0	0	0	7583	1319	46	2	463	2	IGFBP6	12	53494618	Missense_Mutation	SNP	G	TCGA-YL-A8SB-01A-31D-A377-08	4059796	53494618	80357277	17	11427										
MYO1E	4643	broad.mit.edu	37	chr15	59500983	59500983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ggagcagcgtctgatctgccCcctcacccaccgcatgcatc	9	18	3	1			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr15:59500983C>T	ENST00000288235.4	-	14	1826	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	476	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)		CTGATCTGCCCCCTCACCCAC	0.537																																						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.(1426-1428)gGg>gAg		myosin IE							160	134	142					15																	59500983		2191	4290	6481	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500983C>T	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.1427G>A	15.37:g.59500983C>T	ENSP00000288235:p.Gly476Glu		Somatic					p.G476E	NM_004998.3	NP_004989.2	WXS	Illumina GAIIx	Phase_I	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1826	-			476			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1427G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408774	0.96072	.	.	ENSG00000157483	ENST00000288235	D	0.87491	-2.26	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95994	0.8988	10	0.87932	D	0	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	476	Q12965	MYO1E_HUMAN	E	476	ENSP00000288235:G476E	ENSP00000288235:G476E	G	-	2	0	MYO1E	57288275	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	7.750000	0.85110	2.677000	0.91161	0.561000	0.74099	GGG		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		13	54	13	54	---	---	---	---	T	59500983	C	T	59500983	3	4	315	1	0	0	0	0	1	0	0	0	10072	623	22	2	1959	2	MYO1E	15	59500983	Missense_Mutation	SNP	C	TCGA-YL-A8SB-01A-31D-A377-08		59500983	43030409	18	11428										
CIRH1A	84916	broad.mit.edu	37	chr16	69194341	69194341	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ggtaccagtgctggagtccaTgtctacaacgtaaaacagct	10	10	1	0	rs200233638		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:69194341T>A	ENST00000314423.7	+	13	1704	c.1527T>A	c.(1525-1527)caT>caA	p.H509Q	CIRH1A_ENST00000563094.1_Missense_Mutation_p.H509Q|CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	509					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)		CTGGAGTCCATGTCTACAACG	0.478																																					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.(1525-1527)caT>caA		cirrhosis, autosomal recessive 1A (cirhin)							249	216	227					16																	69194341		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69194341T>A	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.1527T>A	16.37:g.69194341T>A	ENSP00000327179:p.His509Gln		Somatic				CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q	p.H509Q			WXS	Illumina GAIIx	Phase_I	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	13	1561	+			509					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1527T>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854882	0.17106	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30182	1.54;2.29	5.89	-6.67	0.01783	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.354015	0.34411	N	0.003989	T	0.22044	0.0531	L	0.39898	1.24	0.19300	N	0.999971	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.02109	-1.1212	10	0.27785	T	0.31	.	18.3362	0.90288	0.0:0.6459:0.0:0.3541	.	509;509	Q969X6;Q969X6-3	CIR1A_HUMAN;.	Q	509;394	ENSP00000327179:H509Q;ENSP00000339164:H394Q	ENSP00000327179:H509Q	H	+	3	2	CIRH1A	67751842	0.382000	0.25148	0.264000	0.24511	0.877000	0.50540	-0.359000	0.07632	-1.753000	0.01323	-0.417000	0.06048	CAT		0.478	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	82	4	82	---	---	---	---	A	69194341	T	A	69194341	3	1	315	1	0	0	0	0	1	0	0	0	3434	1461	51	5	1573	5	CIRH1A	16	69194341	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08		69194341	21160412	19	11429										
CDH13	1012	broad.mit.edu	37	chr16	83636156	83636156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	ggccacagccacgatcatgaTcgatgacaaaaatgatcact	8	11	2	3			TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr16:83636156T>A	ENST00000566620.1	+	8	1348	c.1058T>A	c.(1057-1059)aTc>aAc	p.I353N	CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N	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	353	Cadherin 2. {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)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACGATCATGATCGATGACAAA	0.453																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1057-1059)aTc>aAc		cadherin 13							186	183	184					16																	83636156		1951	4173	6124	SO:0001583	missense	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.chr16:83636156T>A	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.1058T>A	16.37:g.83636156T>A	ENSP00000454435:p.Ile353Asn		Somatic				CDH13_ENST00000428848.3_Missense_Mutation_p.I314N|CDH13_ENST00000268613.10_Missense_Mutation_p.I400N	p.I353N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	WXS	Illumina GAIIx	Phase_I	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	8	1348	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	353			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1058T>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592403	0.86953	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.59083	0.29	6.02	6.02	0.97574	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.81202	0.4773	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.85418	0.1141	9	0.87932	D	0	.	15.3796	0.74645	0.0:0.0:0.0:1.0	.	314;400;353	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	400;353;314;55;43	ENSP00000268613:I400N	ENSP00000268613:I400N	I	+	2	0	CDH13	82193657	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.225000	0.72271	2.311000	0.77944	0.533000	0.62120	ATC		0.453	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		34	115	34	115	---	---	---	---	A	83636156	T	A	83636156	3	1	315	1	0	0	0	0	1	0	0	0	3099	1435	50	5	1088	5	CDH13	16	83636156	Missense_Mutation	SNP	T	TCGA-YL-A8SB-01A-31D-A377-08	14441815	83636156	6718597	20	11430										
SLC1A6	6511	broad.mit.edu	37	chr19	15083615	15083616	+	Frame_Shift_Del	DEL	GC	GC	-													0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	gtctgcaggcgcaggcgcgtGcgcagtgctctctgctgcag					rs372266621		TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:15083615_15083616delGC	ENST00000221742.3	-	1	114_115	c.107_108delGC	c.(106-108)cgcfs	p.R36fs	SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs|SLC1A6_ENST00000598504.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					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						GCAGGCGCGTGCGCAGTGCTCT	0.678																																						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.(106-108)cgcfs		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_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.chr19:15083615_15083616delGC		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.107_108delGC	19.37:g.15083617_15083618delGC	ENSP00000221742:p.Arg36fs		Somatic				SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.H41fs	p.R36fs	NM_001272087.1	NP_001259016.1	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			4	1466_1467	-			36					Q8N753	Frame_Shift_Del	DEL	ENST00000221742.3	37	c.107_108delGC	CCDS12321.1																																																																																				0.678	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		9	22	9	22	---	---	---	---	-	15083616	GC	-	15083615	7	5	315	1	0	1	0	1	0	0	0	0	14436	1306	46	0	1622	0	SLC1A6	19	15083615	Frame_Shift_Del	DEL	GC	TCGA-YL-A8SB-01A-31D-A377-08		15083615	44045368	21	11431										
ERF	2077	broad.mit.edu	37	chr19	42754713	42754713	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	taggcccaatccgggaaggcAaaccctggggacgggaggca							TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr19:42754713delA	ENST00000222329.4	-	2	184	c.27delT	c.(25-27)tttfs	p.F9fs	ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_5'UTR	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	9					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)				CCGGGAAGGCAAACCCTGGGG	0.637																																						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.(25-27)tttfs		Ets2 repressor factor							32	28	29					19																	42754713		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.chr19:42754713delA	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.27delT	19.37:g.42754713delA	ENSP00000222329:p.Phe9fs		Somatic				ERF_ENST00000440177.2_5'UTR|ERF_ENST00000595941.1_5'UTR|AC006486.9_ENST00000594664.1_Intron	p.F9fs	NM_006494.2	NP_006485.2	WXS	Illumina GAIIx	Phase_I	P50548	ERF_HUMAN			2	184	-		Prostate(69;0.00682)	9					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.27delT	CCDS12600.1																																																																																				0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	13	10	13	---	---	---	---	-	42754713	A	-	42754713	7	5	315	1	0	1	0	1	0	0	0	0	5221	127	5	0	1631	0	ERF	19	42754713	Frame_Shift_Del	DEL	A	TCGA-YL-A8SB-01A-31D-A377-08	27671098	42754713	16374270	22	11432										
SDCBP2	27111	broad.mit.edu	37	chr20	1293985	1293985	+	Splice_Site	DEL	T	T	-													0.0434782608695652	1	1	0.827868852459016	0	1.32459016393443	1	1	0	cccagcccccgcgccctaccTggtcgaccttccgcagcctc							TCGA-YL-A8SB-01A-31D-A377-08	TCGA-YL-A8SB-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfa92bb2-8190-4e63-a29b-ede8b316a0cb	3ab86bdb-3bc5-4a9e-a968-afb8b9633679	g.chr20:1293985delT	ENST00000360779.3	-	5	556	c.383delA	c.(382-384)cag>cg	p.Q128fs	SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs|SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs|SDCBP2_ENST00000467129.1_5'Flank	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	128	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCGCCCTACCTGGTCGACCTT	0.697																																						ENST00000360779.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						c.(382-384)cag>cg		syndecan binding protein (syntenin) 2							24	22	23					20																	1293985		2202	4296	6498	SO:0001630	splice_region_variant	27111				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	g.chr20:1293985delT	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.384+1A>-	20.37:g.1293985delT			Somatic				SDCBP2_ENST00000381812.1_Splice_Site_p.Q128fs|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128fs|SDCBP2_ENST00000381808.3_Splice_Site_p.Q43fs	p.Q128fs	NM_080489.4	NP_536737.3	WXS	Illumina GAIIx	Phase_I	Q9H190	SDCB2_HUMAN			5	556	-			128			PDZ 1.		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Splice_Site	DEL	ENST00000360779.3	37	c.383delA	CCDS42848.1																																																																																				0.697	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077513.2	NM_080489	Frame_Shift_Del	2	4	2	4	---	---	---	---	-	1293985	T	-	1293985	8	5	315	1	0	1	0	1	0	0	1	0	13956	1594	55	0	515	0	SDCBP2	20	1293985	Splice_Site	DEL	T	TCGA-YL-A8SB-01A-31D-A377-08		1293985	61731535	23	11433										
DCDC2B	149069	broad.mit.edu	37	chr1	32674910	32674910	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	accaacctggcagacttgaaGaacagagggcagtatgtggc	13	9	0	4	rs551185618		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:32674910G>A	ENST00000409358.1	+	1	216	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	72	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGACTTGAAGAACAGAGGGC	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		19820	0		0	False		,,,				2504	0					ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(214-216)aaG>aaA		doublecortin domain containing 2B							96	100	99					1																	32674910		2074	4204	6278	SO:0001819	synonymous_variant	149069				intracellular signal transduction			g.chr1:32674910G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.216G>A	1.37:g.32674910G>A			Somatic					p.K72K	NM_001099434.1	NP_001092904.1	WXS	Illumina GAIIx	Phase_I	A2VCK2	DCD2B_HUMAN			1	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	72			Doublecortin 1.		B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.216G>A	CCDS44100.1																																																																																				0.582	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		22	53	22	53	---	---	---	---	A	32674910	G	A	32674910	2	1	316	1	0	0	0	0	0	0	0	1	4286	933	33	2		2	DCDC2B	1	32674910	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		32674910	216575711	1	11434										
RNF220	55182	broad.mit.edu	37	chr1	44877961	44877961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gtgcatattcctttcaccaaCggttcctatacctttgcctc	5	14	1	0	rs183301724	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:44877961C>T	ENST00000355387.2	+	2	642	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N			Q5VTB9	RN220_HUMAN	ring finger protein 220	64					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						CTTTCACCAACGGTTCCTATA	0.547													C|||	2	0.000399361	0	0.0029	5008	,	,		21724	0		0	False		,,,				2504	0					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(190-192)aaC>aaT		ring finger protein 220		C		0,4406		0,0,2203	302	289	293		192	-4.3	1	1		293	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF220	NM_018150.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/567	44877961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877961C>T	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.192C>T	1.37:g.44877961C>T			Somatic				RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N	p.N64N			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	642	+			64					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.192C>T	CCDS510.1																																																																																				0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		78	244	78	244	---	---	---	---	T	44877961	C	T	44877961	2	4	316	1	0	0	0	0	0	0	0	1	13483	535	19	2		2	RNF220	1	44877961	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	12203051	44877961	204372660	2	11435										
ATP6V1C2	245973	broad.mit.edu	37	chr2	10915197	10915197	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	tctgataagaagcaacagtaTgtgagtatgtgattgagcag	12	4	1	5			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:10915197T>A	ENST00000272238.4	+	10	934	c.825T>A	c.(823-825)taT>taA	p.Y275*	ATP6V1C2_ENST00000381661.3_Splice_Site_p.Y275*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	275					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)		AGCAACAGTATGTGAGTATGT	0.498																																					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.(823-825)taT>taA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							144	145	145					2																	10915197		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:10915197T>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.825+1T>A	2.37:g.10915197T>A			Somatic				ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275*	p.Y275*	NM_144583.3	NP_653184.2	WXS	Illumina GAIIx	Phase_I	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	10	934	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		275					Q96EL8	Splice_Site	SNP	ENST00000272238.4	37	c.825T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445935	0.84101	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.46	4.3	0.51218	.	0.133396	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.6702	11.4521	0.50158	0.0:0.071:0.0:0.929	.	.	.	.	X	275	.	ENSP00000272238:Y275X	Y	+	3	2	ATP6V1C2	10832648	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	4.285000	0.58989	0.914000	0.36822	0.402000	0.26972	TAT		0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	Nonsense_Mutation	11	32	11	32	---	---	---	---	A	10915197	T	A	10915197	5	1	316	1	0	0	0	0	0	0	1	0	1181	1478	51	5	859	5	ATP6V1C2	2	10915197	Splice_Site	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		10915197	232284176	3	11436										
ASXL2	55252	broad.mit.edu	37	chr2	25972970	25972979	+	Frame_Shift_Del	DEL	ATCCTTTGGG	ATCCTTTGGG	-													0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	ttctgctccaagagatcctcAtcctttgggcacttgatggg					rs539459100	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:25972970_25972979delATCCTTTGGG	ENST00000435504.4	-	12	1739_1748	c.1446_1455delCCCAAAGGAT	c.(1444-1455)tgcccaaaggatfs	p.CPKD482fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	482					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)					AGAGATCCTCATCCTTTGGGCACTTGATGG	0.481																																						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.(1444-1455)tgcccaaaggatfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972970_25972979delATCCTTTGGG			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.1446_1455delCCCAAAGGAT	2.37:g.25972970_25972979delATCCTTTGGG	ENSP00000391447:p.Cys482fs		Somatic				ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs	p.CPKD482fs			WXS	Illumina GAIIx	Phase_I	Q76L83	ASXL2_HUMAN			12	1739_1748	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		482					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1446_1455delCCCAAAGGAT																																																																																					0.481	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		29	110	29	110	---	---	---	---	-	25972979	ATCCTTTGGG	-	25972970	7	5	316	1	0	1	0	1	0	0	0	0	1067	214	8	0	2860	0	ASXL2	2	25972970	Frame_Shift_Del	DEL	ATCCTTTGGG	TCGA-YL-A8SC-01A-11D-A377-08	15057773	25972970	217226403	4	11437										
KRCC1	51315	broad.mit.edu	37	chr2	88327466	88327466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	tttctgtactgacatgtacgGtttctatttccacctctgtt	6	10	3	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:88327466G>C	ENST00000347055.3	-	4	1010	c.617C>G	c.(616-618)aCc>aGc	p.T206S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	206	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GACATGTACGGTTTCTATTTC	0.383																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(616-618)aCc>aGc		lysine-rich coiled-coil 1							150	161	158					2																	88327466		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327466G>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.617C>G	2.37:g.88327466G>C	ENSP00000340083:p.Thr206Ser		Somatic					p.T206S	NM_016618.1	NP_057702.1	WXS	Illumina GAIIx	Phase_I	Q9NPI7	KRCC1_HUMAN			4	1010	-			206			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.617C>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653594	0.14580	.	.	ENSG00000172086	ENST00000347055	T	0.33438	1.41	2.14	2.14	0.27477	.	0.637169	0.12288	U	0.482222	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	P	0.49961	0.93	P	0.47102	0.537	T	0.07385	-1.0775	10	0.16420	T	0.52	-20.9974	7.8418	0.29403	0.0:0.0:1.0:0.0	.	206	Q9NPI7	KRCC1_HUMAN	S	206	ENSP00000340083:T206S	ENSP00000340083:T206S	T	-	2	0	KRCC1	88108581	0.002000	0.14202	0.509000	0.27700	0.788000	0.44548	0.642000	0.24735	1.511000	0.48818	0.650000	0.86243	ACC		0.383	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		64	145	64	145	---	---	---	---	C	88327466	G	C	88327466	3	2	316	1	0	0	0	0	1	0	0	0	8441	1261	44	4	166	4	KRCC1	2	88327466	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	62354496	88327466	154871907	5	11438										
LRP1B	53353	broad.mit.edu	37	chr2	140995791	140995791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gatcatgatctacctcatacAtgttataagatggattgcca	7	8	3	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:140995791A>G	ENST00000389484.3	-	89	14461	c.13490T>C	c.(13489-13491)aTg>aCg	p.M4497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4497					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)		TACCTCATACATGTTATAAGA	0.338										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.(13489-13491)aTg>aCg		low density lipoprotein receptor-related protein 1B							198	185	189					2																	140995791		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995791A>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.13490T>C	2.37:g.140995791A>G	ENSP00000374135:p.Met4497Thr	TSP Lung(27;0.18)	Somatic					p.M4497T	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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)	89	14461	-		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)	4497					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13490T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.58|17.58	3.424037|3.424037	0.62733|0.62733	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.40756	.|1.02	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43478|0.43478	0.1249|0.1249	M|M	0.67397|0.67397	2.05|2.05	0.47476|0.47476	D|D	0.999431|0.999431	.|P	.|0.35433	.|0.501	.|B	.|0.30646	.|0.118	T|T	0.47711|0.47711	-0.9096|-0.9096	5|10	.|0.72032	.|D	.|0.01	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4497	.|Q9NZR2	.|LRP1B_HUMAN	R|T	729;267|4497;4435	.|ENSP00000374135:M4497T	.|ENSP00000374135:M4497T	C|M	-|-	1|2	0|0	LRP1B|LRP1B	140712261|140712261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.730000|8.730000	0.91510|0.91510	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	41	13	41	---	---	---	---	G	140995791	A	G	140995791	3	3	316	1	0	0	0	0	1	0	0	0	8955	217	8	2	321	2	LRP1B	2	140995791	Missense_Mutation	SNP	A	TCGA-YL-A8SC-01A-11D-A377-08	52668325	140995791	102203582	6	11439										
FARP2	9855	broad.mit.edu	37	chr2	242373670	242373670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gtatcacaccttttttagacTtttggaccaacctaagccaa	5	11	1	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:242373670T>G	ENST00000264042.3	+	10	1135	c.965T>G	c.(964-966)cTt>cGt	p.L322R	FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	322	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		TTTTTTAGACTTTTGGACCAA	0.478																																						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.(964-966)cTt>cGt		FERM, RhoGEF and pleckstrin domain protein 2							130	134	133					2																	242373670		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.chr2:242373670T>G	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.965T>G	2.37:g.242373670T>G	ENSP00000264042:p.Leu322Arg		Somatic				FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	p.L322R	NM_014808.2	NP_055623.1	WXS	Illumina GAIIx	Phase_I	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	1135	+		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)	322			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.965T>G	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294604	0.81025	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-1.68	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.078401	0.48767	D	0.000166	D	0.94676	0.8283	M	0.90977	3.165	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.95778	0.8814	10	0.87932	D	0	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	322;322;322	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	R	322;322;322;9	ENSP00000264042:L322R;ENSP00000443876:L322R;ENSP00000362384:L322R;ENSP00000412772:L9R	ENSP00000264042:L322R	L	+	2	0	FARP2	242022343	0.999000	0.42202	0.103000	0.21229	0.973000	0.67179	7.748000	0.85085	1.956000	0.56807	0.455000	0.32223	CTT		0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			6	77	6	77	---	---	---	---	G	242373670	T	G	242373670	3	3	316	1	0	0	0	0	1	0	0	0	5677	1609	56	5	999	5	FARP2	2	242373670	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08	101377879	242373670	825703	7	11440										
LRRC15	131578	broad.mit.edu	37	chr3	194080233	194080233	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	ggtagtcagatcagtgtagtCttccacagggctggttagct	13	8	3	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194080233C>A	ENST00000347624.3	-	2	1625	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y|LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	514					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)		TCAGTGTAGTCTTCCACAGGG	0.557																																						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.(1540-1542)Gac>Tac		leucine rich repeat containing 15							156	151	153					3																	194080233		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080233C>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.1540G>T	3.37:g.194080233C>A	ENSP00000306276:p.Asp514Tyr		Somatic				LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y	p.D514Y	NM_130830.4	NP_570843.2	WXS	Illumina GAIIx	Phase_I	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	1625	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		514					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1540G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455983	0.12283	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.41;0.41	5.43	4.56	0.56223	.	0.326278	0.28933	N	0.013665	T	0.47525	0.1450	N	0.24115	0.695	0.21220	N	0.999751	P;P	0.51537	0.91;0.946	P;P	0.55999	0.498;0.789	T	0.32295	-0.9912	10	0.11182	T	0.66	.	10.7469	0.46185	0.0:0.8486:0.0:0.1514	.	514;520	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Y	514;520;520	ENSP00000306276:D514Y;ENSP00000389128:D520Y;ENSP00000413707:D520Y	ENSP00000306276:D514Y	D	-	1	0	LRRC15	195561528	0.030000	0.19436	0.692000	0.30179	0.080000	0.17528	1.375000	0.34295	1.455000	0.47813	0.655000	0.94253	GAC		0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			12	32	12	32	---	---	---	---	A	194080233	C	A	194080233	3	1	316	1	0	0	0	0	1	0	0	0	8970	913	32	3	209	3	LRRC15	3	194080233	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		194080233	3942197	8	11441										
NLN	57486	broad.mit.edu	37	chr5	65077143	65077143	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	aagacagatgatgacaagtaTaaaattaccttaaaatatcc	5	6	0	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:65077143T>C	ENST00000380985.5	+	6	895	c.717T>C	c.(715-717)taT>taC	p.Y239Y	NLN_ENST00000502464.1_Silent_p.Y135Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	239						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATGACAAGTATAAAATTACCT	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(715-717)taT>taC		neurolysin (metallopeptidase M3 family)							83	85	84					5																	65077143		2203	4298	6501	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077143T>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.717T>C	5.37:g.65077143T>C			Somatic				NLN_ENST00000502464.1_Silent_p.Y135Y	p.Y239Y	NM_020726.4	NP_065777.1	WXS	Illumina GAIIx	Phase_I	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	895	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	239					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.717T>C	CCDS3989.1																																																																																				0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			12	52	12	52	---	---	---	---	C	65077143	T	C	65077143	2	2	316	1	0	0	0	0	0	0	0	1	10467	1413	49	2		2	NLN	5	65077143	Silent	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		65077143	115838117	9	11442										
H2AFV	94239	broad.mit.edu	37	chr7	44874154	44874154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	agagatttgtggatgtgaggGatcacacctagaatgaaatt	12	4	1	4			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:44874154G>C	ENST00000308153.4	-	5	424	c.333C>G	c.(331-333)atC>atG	p.I111M	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	111						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGATGTGAGGGATCACACCTA	0.333																																						ENST00000308153.4																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(331-333)atC>atG		H2A histone family, member V							78	69	72					7																	44874154		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44874154G>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"Histones / Replication-independent"	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.333C>G	7.37:g.44874154G>C	ENSP00000308405:p.Ile111Met		Somatic				H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR	p.I111M	NM_012412.4	NP_036544.1	WXS	Illumina GAIIx	Phase_I	Q71UI9	H2AV_HUMAN			5	424	-			111					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.333C>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122631	0.56613	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.83591	0.83;-1.74;0.85	5.67	1.24	0.21308	Histone-fold (1);Histone H2A (2);	.	.	.	.	D	0.84238	0.5428	M	0.70108	2.13	0.80722	D	1	P;P;P	0.49862	0.726;0.458;0.929	P;B;P	0.51487	0.671;0.23;0.5	T	0.82279	-0.0536	9	0.62326	D	0.03	-9.5729	8.5561	0.33483	0.432:0.0:0.568:0.0	.	85;73;111	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	M	73;111;85	ENSP00000342714:I73M;ENSP00000308405:I111M;ENSP00000340708:I85M	ENSP00000308405:I111M	I	-	3	3	H2AFV	44840679	0.894000	0.30519	1.000000	0.80357	0.992000	0.81027	0.057000	0.14279	0.318000	0.23185	0.561000	0.74099	ATC		0.333	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		6	43	6	43	---	---	---	---	C	44874154	G	C	44874154	3	2	316	1	0	0	0	0	1	0	0	0	6927	1164	41	4	81	4	H2AFV	7	44874154	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		44874154	114264509	10	11443										
KIAA1324L	222223	broad.mit.edu	37	chr7	86537841	86537841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	ttatattaatatttttcaatGtggtttcaactgtgactcct	5	6	2	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:86537841G>A	ENST00000450689.2	-	17	2563	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	793						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)					ATTTTTCAATGTGGTTTCAAC	0.303																																						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.(2377-2379)aCa>aTa		KIAA1324-like							83	90	88					7																	86537841		2202	4290	6492	SO:0001583	missense	222223					integral to membrane		g.chr7:86537841G>A	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.2378C>T	7.37:g.86537841G>A	ENSP00000413445:p.Thr793Ile		Somatic				KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I	p.T793I	NM_001142749.2	NP_001136221.1	WXS	Illumina GAIIx	Phase_I	A8MWY0	K132L_HUMAN			17	2563	-	Esophageal squamous(14;0.0058)		793					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2378C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080552	0.36662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	5.8	5.8	0.92144	Mannose-6-phosphate receptor, binding (1);	0.472558	0.24198	N	0.040643	T	0.05364	0.0142	L	0.36672	1.1	0.31724	N	0.637875	B;B;B	0.18741	0.03;0.01;0.006	B;B;B	0.15484	0.013;0.005;0.005	T	0.06285	-1.0835	10	0.33940	T	0.23	.	12.3	0.54868	0.0848:0.0:0.9152:0.0	.	793;553;626	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	793;553;722;626	ENSP00000413445:T793I;ENSP00000297222:T553I;ENSP00000397377:T722I;ENSP00000402390:T626I	ENSP00000297222:T553I	T	-	2	0	KIAA1324L	86375777	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	2.032000	0.41127	2.744000	0.94065	0.655000	0.94253	ACA		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		22	34	22	34	---	---	---	---	A	86537841	G	A	86537841	3	1	316	1	0	0	0	0	1	0	0	0	8224	1377	48	2	735	2	KIAA1324L	7	86537841	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	41663687	86537841	72600822	11	11444										
MUC17	140453	broad.mit.edu	37	chr7	100685726	100685726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	cccaagtcagttcatctcctGtgactcctgaaggtaccacc	7	15	3	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:100685726G>T	ENST00000306151.4	+	3	11093	c.11029G>T	c.(11029-11031)Gtg>Ttg	p.V3677L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3677	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)					TTCATCTCCTGTGACTCCTGA	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.(11029-11031)Gtg>Ttg		mucin 17, cell surface associated							203	187	192					7																	100685726		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685726G>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.11029G>T	7.37:g.100685726G>T	ENSP00000302716:p.Val3677Leu		Somatic					p.V3677L	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11093	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3677			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11029G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.038	0.375360	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.43314	0.803	P	0.44477	0.451	T	0.29792	-1.0000	9	0.23302	T	0.38	.	0.8038	0.01080	0.23:0.2017:0.3671:0.2012	.	3677	Q685J3	MUC17_HUMAN	L	3677	ENSP00000302716:V3677L	ENSP00000302716:V3677L	V	+	1	0	MUC17	100472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.655000	0.01982	-1.799000	0.01248	-1.453000	0.01033	GTG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		43	94	43	94	---	---	---	---	T	100685726	G	T	100685726	3	4	316	1	0	0	0	0	1	0	0	0	9974	1377	48	3	11039	3	MUC17	7	100685726	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	14147885	100685726	58452937	12	11445										
SMU1	55234	broad.mit.edu	37	chr9	33057683	33057683	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	acagcatcatccatcatcatAaagttatcttgggcctggta	7	10	4	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:33057683A>G	ENST00000397149.3	-	7	830	c.780T>C	c.(778-780)ttT>ttC	p.F260F	SMU1_ENST00000536631.1_Silent_p.F99F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	260						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCATCATCATAAAGTTATCTT	0.403																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(778-780)ttT>ttC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							150	139	142					9																	33057683		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33057683A>G	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.780T>C	9.37:g.33057683A>G			Somatic				SMU1_ENST00000536631.1_Silent_p.F99F	p.F260F	NM_018225.2	NP_060695.2	WXS	Illumina GAIIx	Phase_I	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	830	-			260					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.780T>C	CCDS6534.1																																																																																				0.403	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	147	5	147	---	---	---	---	G	33057683	A	G	33057683	2	3	316	1	0	0	0	0	0	0	0	1	14817	359	13	2		2	SMU1	9	33057683	Silent	SNP	A	TCGA-YL-A8SC-01A-11D-A377-08		33057683	108155748	13	11446										
HSPA12A	259217	broad.mit.edu	37	chr10	118460629	118460629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	tggacacaccagggtcacctCcctcccatcgcctgccacca	7	20	1	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr10:118460629C>T	ENST00000369209.3	-	4	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	89						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)		AGGGTCACCTCCCTCCCATCG	0.527																																						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.(265-267)gGa>gAa		heat shock 70kDa protein 12A							71	74	73					10																	118460629		2075	4220	6295	SO:0001583	missense	259217						ATP binding	g.chr10:118460629C>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.266G>A	10.37:g.118460629C>T	ENSP00000358211:p.Gly89Glu		Somatic					p.G89E	NM_025015.2	NP_079291.2	WXS	Illumina GAIIx	Phase_I	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	370	-			89						Missense_Mutation	SNP	ENST00000369209.3	37	c.266G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009595	0.93346	.	.	ENSG00000165868	ENST00000369209	T	0.53423	0.62	5.62	5.62	0.85841	.	0.096661	0.64402	D	0.000001	T	0.67078	0.2855	M	0.87097	2.86	0.80722	D	1	P	0.42409	0.779	P	0.48704	0.587	T	0.72858	-0.4165	10	0.87932	D	0	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	89	O43301	HS12A_HUMAN	E	89	ENSP00000358211:G89E	ENSP00000358211:G89E	G	-	2	0	HSPA12A	118450619	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GGA		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		17	48	17	48	---	---	---	---	T	118460629	C	T	118460629	3	4	316	1	0	0	0	0	1	0	0	0	7404	855	30	2	1797	2	HSPA12A	10	118460629	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		118460629	17074118	14	11447										
SCYL1	57410	broad.mit.edu	37	chr11	65302785	65302785	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	cacggctacaggccaaggatGaacagggccccatccgctgc	12	15	0	1			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:65302785G>T	ENST00000270176.5	+	10	1395	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000524944.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	440					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						GGCCAAGGATGAACAGGGCCC	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1318-1320)Gaa>Taa		SCY1-like 1 (S. cerevisiae)							120	126	124					11																	65302785		2164	4257	6421	SO:0001587	stop_gained	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.chr11:65302785G>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.1318G>T	11.37:g.65302785G>T	ENSP00000270176:p.Glu440*		Somatic				SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*	p.E440*			WXS	Illumina GAIIx	Phase_I	Q96KG9	NTKL_HUMAN			10	1351	+			440					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	ENST00000270176.5	37	c.1318G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041539	0.93685	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	.	.	.	4.64	4.64	0.57946	.	0.342689	0.31601	N	0.007380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4666	14.9939	0.71415	0.0:0.0:1.0:0.0	.	.	.	.	X	440;440;440;440;440;440;440;440;297	.	ENSP00000270176:E440X	E	+	1	0	SCYL1	65059361	1.000000	0.71417	0.876000	0.34364	0.888000	0.51559	6.804000	0.75186	2.138000	0.66242	0.313000	0.20887	GAA		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		17	63	17	63	---	---	---	---	T	65302785	G	T	65302785	4	4	316	1	0	0	0	0	0	1	0	0	13947	1291	45	3	1356	3	SCYL1	11	65302785	Nonsense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		65302785	69703731	15	11448										
ATM	472	broad.mit.edu	37	chr11	108224576	108224576	+	Missense_Mutation	SNP	G	G	A													0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gagatattgtggatggcatgGgcattacgggtgttgaaggt							TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224576G>A	ENST00000452508.2	+	61	8944	c.8755G>A	c.(8755-8757)Ggc>Agc	p.G2919S	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2919S|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	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)	GGATGGCATGGGCATTACGGG	0.408			"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.(8755-8757)Ggc>Agc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212	202	206					11																	108224576		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.chr11:108224576G>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.8755G>A	11.37:g.108224576G>A	ENSP00000388058:p.Gly2919Ser	TSP Lung(14;0.12)	Somatic				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919S	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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)	60	9140	+		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)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8755G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670933	0.96754	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94927	0.8079	10	0.87932	D	0	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	2919	Q13315	ATM_HUMAN	S	2919	ENSP00000278616:G2919S;ENSP00000388058:G2919S	ENSP00000278616:G2919S	G	+	1	0	ATM	107729786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.538000	0.85594	0.561000	0.74099	GGC		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	28	97	---	---	---	---	A	108224576	G	A	108224576	3	1	316	1	0	0	0	0	1	0	0	0	1109	1232	43	2	8989	2	ATM	11	108224576	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	42921791	108224576	26781940	16	11449	21	2								
ATM	472	broad.mit.edu	37	chr11	108224578	108224578	+	Silent	SNP	C	C	G													0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gatattgtggatggcatgggCattacgggtgttgaaggtgt							TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224578C>G	ENST00000452508.2	+	61	8946	c.8757C>G	c.(8755-8757)ggC>ggG	p.G2919G	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.G2919G|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	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)	ATGGCATGGGCATTACGGGTG	0.403			"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.(8755-8757)ggC>ggG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212	202	206					11																	108224578		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.chr11:108224578C>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.8757C>G	11.37:g.108224578C>G		TSP Lung(14;0.12)	Somatic				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919G	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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)	60	9142	+		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)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8757C>G	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	28	97	---	---	---	---	G	108224578	C	G	108224578	2	3	316	1	0	0	0	0	0	0	0	1	1109	697	25	4		4	ATM	11	108224578	Silent	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08	2	108224578	26781938	17	11450	21	2								
KIAA1409	57578	broad.mit.edu	37	chr14	94008906	94008906	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gtttcactccactgcgtataTgatggatgatgaagtgggaa	12	6	1	3			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr14:94008906T>A	ENST00000393151.2	+	14	1619	c.1619T>A	c.(1618-1620)aTg>aAg	p.M540K	UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000553484.1_Missense_Mutation_p.M540K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	540					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						ACTGCGTATATGATGGATGAT	0.512																																						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.(1618-1620)aTg>aAg		unc-79 homolog (C. elegans)							212	164	180					14																	94008906		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94008906T>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.1619T>A	14.37:g.94008906T>A	ENSP00000376858:p.Met540Lys		Somatic				UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K	p.M540K			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			14	1773	+			540					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	28.4	4.917074	0.92249	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.36672	1.1	0.58432	D	0.999998	P	0.48998	0.918	P	0.61132	0.884	T	0.00928	-1.1511	10	0.41790	T	0.15	-29.602	16.1512	0.81624	0.0:0.0:0.0:1.0	.	540	C9JQL1	.	K	363;540;540;540;540	ENSP00000256339:M363K;ENSP00000450868:M540K;ENSP00000451360:M540K;ENSP00000376858:M540K	ENSP00000256339:M363K	M	+	2	0	KIAA1409	93078659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.000000	0.88501	2.204000	0.70986	0.528000	0.53228	ATG		0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	107	14	107	---	---	---	---	A	94008906	T	A	94008906	3	1	316	1	0	0	0	0	1	0	0	0	8230	1464	51	5	1130	5	KIAA1409	14	94008906	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08		94008906	13340634	18	11451										
SLTM	79811	broad.mit.edu	37	chr15	59186349	59186350	+	Missense_Mutation	DNP	TC	TC	AT													0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	ttcttgaactactcttttcaTcattttctttcttcatttct							TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186349_59186350TC>AT	ENST00000380516.2	-	11	1507_1508	c.1420_1421GA>AT	c.(1420-1422)GAt>ATt	p.D474I	SLTM_ENST00000536328.1_Missense_Mutation_p.D43I|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					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						ACTCTTTTCATCATTTTCTTTC	0.282																																						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.(1420-1422)gAt>gTt|c.(1420-1422)Gat>Aat		SAFB-like, transcription modulator																																				SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186349T>A|g.chr15:59186350C>T	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.1420_1421delinsAT	15.37:g.59186349_59186350delinsAT	ENSP00000369887:p.Asp474Ile		Somatic				SLTM_ENST00000536328.1_Missense_Mutation_p.D43V|SLTM_ENST00000536328.1_Missense_Mutation_p.D43N	p.D474V|p.D474N	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	WXS	Illumina GAIIx	Phase_I	Q9NWH9	SLTM_HUMAN			11	1508|1507	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1421A>T|c.1420G>A	CCDS10168.2																																																																																				0.282	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	22|21	8	21	---	---	---	---	AT	59186350	TC	AT	59186349	3	1	316	1	0	0	0	0	1	0	0	0	14754	1435	50	5	1727	5	SLTM	15	59186349	Missense_Mutation	DNP	TC	TCGA-YL-A8SC-01A-11D-A377-08		59186349	43345043	19	11452										
ZNF319	57567	broad.mit.edu	37	chr16	58030795	58030795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gcgttcgcaaagcgtgcagcGcaggggcttctctgccgccg	15	14	1	0			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:58030795G>A	ENST00000299237.2	-	2	1997	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	459					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						AGCGTGCAGCGCAGGGGCTTC	0.662																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1375-1377)Cgc>Tgc		zinc finger protein 319							20	22	21					16																	58030795		2197	4300	6497	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030795G>A	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		ENST00000299237.2:c.1375C>T	16.37:g.58030795G>A	ENSP00000299237:p.Arg459Cys		Somatic					p.R459C	NM_020807.1	NP_065858.1	WXS	Illumina GAIIx	Phase_I	Q9P2F9	ZN319_HUMAN			2	1997	-			459					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1375C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922538	0.52653	.	.	ENSG00000166188	ENST00000299237	T	0.44083	0.93	5.07	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.118187	0.51477	D	0.000087	T	0.53786	0.1818	L	0.52011	1.625	0.49389	D	0.999784	D	0.89917	1.0	D	0.63033	0.91	T	0.57225	-0.7848	10	0.87932	D	0	-35.2385	12.4054	0.55436	0.0:0.0:0.7561:0.2439	.	459	Q9P2F9	ZN319_HUMAN	C	459	ENSP00000299237:R459C	ENSP00000299237:R459C	R	-	1	0	ZNF319	56588296	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.483000	0.60264	2.353000	0.79882	0.561000	0.74099	CGC		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	8	3	8	---	---	---	---	A	58030795	G	A	58030795	3	1	316	1	0	0	0	0	1	0	0	0	17834	1087	38	2	377	2	ZNF319	16	58030795	Missense_Mutation	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08		58030795	32323958	20	11453										
FBXW10	10517	broad.mit.edu	37	chr17	18651256	18651256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	tggtcttctgtgtttcagggCtcaatcaagacatcacagat	9	9	6	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:18651256C>T	ENST00000395665.4	+	2	729	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FBXW10_ENST00000308799.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	170										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						TGTTTCAGGGCTCAATCAAGA	0.443																																						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.(508-510)Ctc>Ttc		F-box and WD repeat domain containing 10							46	47	47					17																	18651256		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18651256C>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.508C>T	17.37:g.18651256C>T	ENSP00000379025:p.Leu170Phe		Somatic				FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F	p.L170F			WXS	Illumina GAIIx	Phase_I	Q5XX13	FBW10_HUMAN			2	727	+			170					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.508C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	5.028	0.190869	0.09547	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.08	-0.15	0.13416	WD40/YVTN repeat-like-containing domain (1);	0.137344	0.46758	U	0.000261	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.20671	0.021;0.021;0.022;0.047	B;B;B;B	0.18263	0.021;0.021;0.018;0.021	T	0.17806	-1.0357	10	0.14656	T	0.56	.	2.4718	0.04566	0.2903:0.5287:0.0:0.1809	.	170;170;170;170	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	170	ENSP00000379026:L170F;ENSP00000310382:L170F;ENSP00000306937:L170F;ENSP00000379025:L170F	ENSP00000306937:L170F	L	+	1	0	FBXW10	18591981	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.341000	0.07811	0.000000	0.14550	0.405000	0.27470	CTC		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	63	7	63	---	---	---	---	T	18651256	C	T	18651256	3	4	316	1	0	0	0	0	1	0	0	0	5763	797	28	2	514	2	FBXW10	17	18651256	Missense_Mutation	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		18651256	62543954	21	11454										
GOSR1	9527	broad.mit.edu	37	chr17	28808252	28808252	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	acaagttacagtcatagcagTacccgagatggaagacgcga	11	9	1	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:28808252T>A	ENST00000225724.5	+	2	195	c.123T>A	c.(121-123)agT>agA	p.S41R	GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	41					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GTCATAGCAGTACCCGAGATG	0.373																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(121-123)agT>agA		golgi SNAP receptor complex member 1							110	109	109					17																	28808252		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28808252T>A	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.123T>A	17.37:g.28808252T>A	ENSP00000225724:p.Ser41Arg		Somatic				GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R	p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	WXS	Illumina GAIIx	Phase_I	O95249	GOSR1_HUMAN			2	195	+			41					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.123T>A	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628679	0.46944	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.83	3.59	0.41128	.	0.197717	0.64402	D	0.000007	T	0.48241	0.1489	L	0.56769	1.78	0.42835	D	0.994039	B;B;B	0.23249	0.0;0.0;0.082	B;B;B	0.20577	0.003;0.002;0.03	T	0.32798	-0.9893	9	0.24483	T	0.36	-3.1248	7.2851	0.26333	0.0:0.4174:0.0:0.5826	.	41;41;41	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	R	41	.	ENSP00000225724:S41R	S	+	3	2	GOSR1	25832378	0.395000	0.25254	0.670000	0.29842	0.967000	0.64934	0.701000	0.25616	0.477000	0.27464	0.459000	0.35465	AGT		0.373	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			23	82	23	82	---	---	---	---	A	28808252	T	A	28808252	3	1	316	1	0	0	0	0	1	0	0	0	6577	1635	57	5	129	5	GOSR1	17	28808252	Missense_Mutation	SNP	T	TCGA-YL-A8SC-01A-11D-A377-08	10156996	28808252	52386958	22	11455										
SP2	6668	broad.mit.edu	37	chr17	46002397	46002397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	gccctggccggagagacccaGcccggggagaagcggcgccg	18	15	0	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:46002397G>A	ENST00000376741.4	+	5	1622	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	495					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GAGAGACCCAGCCCGGGGAGA	0.602																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1483-1485)caG>caA		Sp2 transcription factor							43	47	45					17																	46002397		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002397G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1485G>A	17.37:g.46002397G>A			Somatic				AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.Q495Q	NM_003110.5	NP_003101.3	WXS	Illumina GAIIx	Phase_I	Q02086	SP2_HUMAN			5	1622	+			495					A6NK74	Silent	SNP	ENST00000376741.4	37	c.1485G>A	CCDS11521.2																																																																																				0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	39	13	39	---	---	---	---	A	46002397	G	A	46002397	2	1	316	1	0	0	0	0	0	0	0	1	14964	962	34	2		2	SP2	17	46002397	Silent	SNP	G	TCGA-YL-A8SC-01A-11D-A377-08	17194145	46002397	35192813	23	11456										
LILRA6	79168	broad.mit.edu	37	chr19	54745451	54745451	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.625978090766823	0	0.804828973843058	1	1	0	acaaggccgtggctccctcaCctgagggcagaatctccagg	12	14	2	2			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:54745451C>A	ENST00000396365.2	-	4	698		c.e4+1		LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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;0.105)		GGCTCCCTCACCTGAGGGCAG	0.572																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.e4+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							36	40	39					19																	54745451		1646	3666	5312	SO:0001630	splice_region_variant	79168							g.chr19:54745451C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.658+1G>T	19.37:g.54745451C>A			Somatic				LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site				WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	4	707	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308140	0.23821	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3675	0.32395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRA6	59437263	0.541000	0.26417	0.809000	0.32408	0.151000	0.21798	1.469000	0.35343	1.656000	0.50722	0.162000	0.16502	.		0.572	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	Intron	14	41	14	41	---	---	---	---	A	54745451	C	A	54745451	5	1	316	1	0	0	0	0	0	0	1	0	8789	521	18	3	806	3	LILRA6	19	54745451	Splice_Site	SNP	C	TCGA-YL-A8SC-01A-11D-A377-08		54745451	4383532	24	11457										
LHX8	431707	broad.mit.edu	37	chr1	75602926	75602926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagttgcggcctggagatcGtggacaaataccttctcaag	11	10	1	1			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr1:75602926G>A	ENST00000294638.5	+	4	911	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	LHX8_ENST00000356261.3_Missense_Mutation_p.V73M|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	83	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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						CCTGGAGATCGTGGACAAATA	0.647																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(247-249)Gtg>Atg		LIM homeobox 8							34	35	34					1																	75602926		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602926G>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.247G>A	1.37:g.75602926G>A	ENSP00000294638:p.Val83Met		Somatic				LHX8_ENST00000356261.3_Missense_Mutation_p.V73M|LHX8_ENST00000559413.1_3'UTR	p.V83M	NM_001001933.1	NP_001001933.1	WXS	Illumina GAIIx	Phase_I	Q68G74	LHX8_HUMAN			4	911	+			83			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.247G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766039	0.69878	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87650	-2.28;-2.28	5.1	4.17	0.49024	Zinc finger, LIM-type (5);	0.058303	0.64402	D	0.000002	D	0.84502	0.5486	L	0.41492	1.28	0.48511	D	0.999664	D	0.63880	0.993	P	0.57502	0.822	D	0.83799	0.0235	10	0.34782	T	0.22	.	15.6303	0.76904	0.0:0.138:0.862:0.0	.	83	Q68G74	LHX8_HUMAN	M	83;73	ENSP00000294638:V83M;ENSP00000348597:V73M	ENSP00000294638:V83M	V	+	1	0	LHX8	75375514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.427000	0.52785	1.142000	0.42291	0.549000	0.68633	GTG		0.647	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		11	14	11	14	---	---	---	---	A	75602926	G	A	75602926	3	1	317	1	0	0	0	0	1	0	0	0	8776	1145	40	2	257	2	LHX8	1	75602926	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		75602926	173647695	1	11458										
DTX2	113878	broad.mit.edu	37	chr7	76112081	76112081	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccgcagcgtgcggcgccaAgcagggccgccttacccggt	15	16	0	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:76112081A>G	ENST00000324432.5	+	5	1035	c.525A>G	c.(523-525)caA>caG	p.Q175Q	DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	175					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						TGCGGCGCCAAGCAGGGCCGC	0.647																																						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.(523-525)caA>caG		deltex homolog 2 (Drosophila)							51	48	49					7																	76112081		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112081A>G		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.525A>G	7.37:g.76112081A>G			Somatic				DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000430490.2_Silent_p.Q175Q	p.Q175Q	NM_020892.2	NP_065943.2	WXS	Illumina GAIIx	Phase_I	Q86UW9	DTX2_HUMAN			5	1035	+			175					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.525A>G	CCDS5587.1																																																																																				0.647	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			23	17	23	17	---	---	---	---	G	76112081	A	G	76112081	2	3	317	1	0	0	0	0	0	0	0	1	4794	69	3	2		2	DTX2	7	76112081	Silent	SNP	A	TCGA-YL-A8SF-01A-11D-A377-08		76112081	83026582	2	11459										
CPA2	1358	broad.mit.edu	37	chr7	129912964	129912964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgagcaccctggtctagtgAgcaaagtgaatattggctct	11	9	2	3			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr7:129912964A>C	ENST00000222481.4	+	5	488	c.433A>C	c.(433-435)Agc>Cgc	p.S145R		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	145					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)					TGGTCTAGTGAGCAAAGTGAA	0.453																																						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.(433-435)Agc>Cgc		carboxypeptidase A2 (pancreatic)							95	86	89					7																	129912964		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129912964A>C	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.433A>C	7.37:g.129912964A>C	ENSP00000222481:p.Ser145Arg		Somatic					p.S145R	NM_001869.2	NP_001860.2	WXS	Illumina GAIIx	Phase_I	P48052	CBPA2_HUMAN			5	488	+	Melanoma(18;0.0435)		145					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.433A>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187279	0.57909	.	.	ENSG00000158516	ENST00000222481	T	0.09350	2.99	5.96	4.77	0.60923	Peptidase M14, carboxypeptidase A (2);	0.208075	0.49916	N	0.000127	T	0.18467	0.0443	M	0.73217	2.22	0.51233	D	0.999911	P;B	0.39717	0.684;0.191	P;B	0.46320	0.512;0.211	T	0.00601	-1.1650	10	0.59425	D	0.04	.	7.89	0.29672	0.7248:0.1406:0.0:0.1346	.	143;145	B4DDX9;P48052	.;CBPA2_HUMAN	R	145	ENSP00000222481:S145R	ENSP00000222481:S145R	S	+	1	0	CPA2	129700200	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	2.371000	0.44248	2.285000	0.76669	0.533000	0.62120	AGC		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		14	49	14	49	---	---	---	---	C	129912964	A	C	129912964	3	2	317	1	0	0	0	0	1	0	0	0	3790	304	11	5	451	5	CPA2	7	129912964	Missense_Mutation	SNP	A	TCGA-YL-A8SF-01A-11D-A377-08	53800883	129912964	29225699	3	11460										
DNAI1	27019	broad.mit.edu	37	chr9	34490062	34490062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaggaaacctcgaagaagaCgaagagcccaaggagttaga	12	8	0	4	rs374753293		TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr9:34490062C>T	ENST00000242317.4	+	6	612	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	147					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)		TCGAAGAAGACGAAGAGCCCA	0.488									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.(439-441)gaC>gaT		dynein, axonemal, intermediate chain 1		C		0,4406		0,0,2203	73	77	76		441	-10.5	0.2	9		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		147/700	34490062	1,13005	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.chr9:34490062C>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.441C>T	9.37:g.34490062C>T			Somatic				DNAI1_ENST00000488369.1_3'UTR	p.D147D	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	WXS	Illumina GAIIx	Phase_I	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	6	612	+	all_epithelial(49;0.244)		147					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.441C>T	CCDS6557.1																																																																																				0.488	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			12	13	12	13	---	---	---	---	T	34490062	C	T	34490062	2	4	317	1	0	0	0	0	0	0	0	1	4609	535	19	2		2	DNAI1	9	34490062	Silent	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		34490062	106723369	4	11461										
BCL9L	283149	broad.mit.edu	37	chr11	118773329	118773329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccagcagggcagggccggGggcactgctggggtctcctc	17	15	1	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr11:118773329G>A	ENST00000334801.3	-	6	2087	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1. {ECO:0000250}.|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)		GCAGGGCCGGGGGCACTGCTG	0.692																																						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.(1123-1125)Ccc>Tcc		B-cell CLL/lymphoma 9-like							28	38	34					11																	118773329		2195	4292	6487	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.chr11:118773329G>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.1123C>T	11.37:g.118773329G>A	ENSP00000335320:p.Pro375Ser		Somatic				BCL9L_ENST00000526143.1_5'UTR	p.P375S	NM_182557.2	NP_872363.1	WXS	Illumina GAIIx	Phase_I	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2087	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	375			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1123C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	2.366	-0.345399	0.05208	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.62364	0.03	3.9	2.03	0.26663	.	0.173615	0.27609	N	0.018614	T	0.38480	0.1042	N	0.12182	0.205	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.27082	T	0.32	-0.1785	8.5228	0.33287	0.2739:0.0:0.7261:0.0	.	370;375	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	375;338;375;375	ENSP00000335320:P375S	ENSP00000335320:P375S	P	-	1	0	BCL9L	118278539	0.406000	0.25344	0.033000	0.17914	0.588000	0.36517	0.363000	0.20301	0.335000	0.23614	-0.680000	0.03767	CCC		0.692	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		9	23	9	23	---	---	---	---	A	118773329	G	A	118773329	3	1	317	1	0	0	0	0	1	0	0	0	1382	1232	43	2	3388	2	BCL9L	11	118773329	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		118773329	16233187	5	11462										
CILP	8483	broad.mit.edu	37	chr15	65496880	65496880	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcacatgcaggcatcacaGtcagcattcacctggcccat	9	14	3	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr15:65496880G>C	ENST00000261883.4	-	6	811	c.645C>G	c.(643-645)gaC>gaG	p.D215E		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	215					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)				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						AGGCATCACAGTCAGCATTCA	0.577																																						ENST00000261883.4																			0				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.(643-645)gaC>gaG		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							55	53	54					15																	65496880		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65496880G>C	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.645C>G	15.37:g.65496880G>C	ENSP00000261883:p.Asp215Glu		Somatic					p.D215E	NM_003613.3	NP_003604	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			6	811	-			215					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.645C>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.084968	0.20390	.	.	ENSG00000138615	ENST00000261883	T	0.37058	1.22	5.63	1.55	0.23275	.	0.231504	0.50627	N	0.000101	T	0.24392	0.0591	L	0.49640	1.575	0.34807	D	0.737358	B	0.06786	0.001	B	0.09377	0.004	T	0.36359	-0.9751	10	0.05721	T	0.95	-9.1761	8.1266	0.31003	0.1352:0.2415:0.6233:0.0	.	215	O75339	CILP1_HUMAN	E	215	ENSP00000261883:D215E	ENSP00000261883:D215E	D	-	3	2	CILP	63283933	0.962000	0.33011	0.996000	0.52242	0.974000	0.67602	0.063000	0.14410	0.039000	0.15632	0.563000	0.77884	GAC		0.577	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		12	16	12	16	---	---	---	---	C	65496880	G	C	65496880	3	2	317	1	0	0	0	0	1	0	0	0	3429	1020	36	4	2925	4	CILP	15	65496880	Missense_Mutation	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		65496880	37034512	6	11463										
USP31	57478	broad.mit.edu	37	chr16	23080009	23080009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcccaggtgggaaagggctCcttgtggcagggcccgaggc	17	11	0	0			TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr16:23080009C>A	ENST00000219689.7	-	16	3416	c.3417G>T	c.(3415-3417)agG>agT	p.R1139S	USP31_ENST00000567975.1_Missense_Mutation_p.R432S	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)		GGAAAGGGCTCCTTGTGGCAG	0.592																																						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.(3415-3417)agG>agT		ubiquitin specific peptidase 31							64	68	67					16																	23080009		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080009C>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.3417G>T	16.37:g.23080009C>A	ENSP00000219689:p.Arg1139Ser		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.R432S	p.R1139S	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3416	-			1139			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3417G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	8.829	0.939467	0.18281	.	.	ENSG00000103404	ENST00000219689	T	0.10288	2.89	5.8	3.81	0.43845	.	2.079960	0.02497	N	0.090052	T	0.17619	0.0423	L	0.29908	0.895	0.35535	D	0.802553	P;D	0.55605	0.799;0.972	B;P	0.54100	0.323;0.742	T	0.03773	-1.1005	10	0.33940	T	0.23	-23.2872	8.1676	0.31237	0.0:0.7494:0.0:0.2506	.	1139;432	Q70CQ4;B3KS48	UBP31_HUMAN;.	S	1139	ENSP00000219689:R1139S	ENSP00000219689:R1139S	R	-	3	2	USP31	22987510	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	1.953000	0.40352	0.739000	0.32628	-0.136000	0.14681	AGG		0.592	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		27	41	27	41	---	---	---	---	A	23080009	C	A	23080009	3	1	317	1	0	0	0	0	1	0	0	0	17059	854	30	3	645	3	USP31	16	23080009	Missense_Mutation	SNP	C	TCGA-YL-A8SF-01A-11D-A377-08		23080009	67274744	7	11464										
PRR12	57479	broad.mit.edu	37	chr19	50123646	50123646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cgtctgctcaaaaccagggcGatgcgggagatgtaccggag	15	10	2	1	rs189353817	byFrequency	TCGA-YL-A8SF-01A-11D-A377-08	TCGA-YL-A8SF-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1ffaa2-c4dc-463c-953f-f22025a0922a	9f08b1b0-9eae-4d97-9b23-360221f7428c	g.chr19:50123646G>A	ENST00000418929.2	+	10	5547	c.5535G>A	c.(5533-5535)gcG>gcA	p.A1845A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1024							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)		AAACCAGGGCGATGCGGGAGA	0.587													G|||	2	0.000399361	0	0	5008	,	,		16613	0		0.002	False		,,,				2504	0					ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5533-5535)gcG>gcA		proline rich 12							47	51	49					19																	50123646		2138	4244	6382	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123646G>A	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.5535G>A	19.37:g.50123646G>A			Somatic					p.A1845A	NM_020719.1	NP_065770.1	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5547	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1024					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5535G>A	CCDS46143.1																																																																																				0.587	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	6	3	6	---	---	---	---	A	50123646	G	A	50123646	2	1	317	1	0	0	0	0	0	0	0	1	12584	1045	37	2		2	PRR12	19	50123646	Silent	SNP	G	TCGA-YL-A8SF-01A-11D-A377-08		50123646	9005337	8	11465										
LPPR5	163404	broad.mit.edu	37	chr1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctttgaaattattcaccaCgcacacaacctaaaatttca	2	13	2	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	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	163404					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met		Somatic				LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	WXS	Illumina GAIIx	Phase_I	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			4	99	4	99	---	---	---	---	T	99380467	C	T	99380467	3	4	318	1	0	0	0	0	1	0	0	0	8928	536	19	2	165	2	LPPR5	1	99380467	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		99380467	149870154	1	11466										
USH2A	7399	broad.mit.edu	37	chr1	216246603	216246603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgccaagttaacgacagcaCcccgtgtaaatttaacatcc	6	12	0	0	rs140895792	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr1:216246603C>T	ENST00000307340.3	-	28	5998	c.5612G>A	c.(5611-5613)gGt>gAt	p.G1871D	USH2A_ENST00000366943.2_Missense_Mutation_p.G1871D|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1871	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|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)		AACGACAGCACCCCGTGTAAA	0.443										HNSCC(13;0.011)			C|||	8	0.00159744	0.0061	0	5008	,	,		18422	0		0	False		,,,				2504	0					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.(5611-5613)gGt>gAt		Usher syndrome 2A (autosomal recessive, mild)		C	ASP/GLY	13,4393	20.2+/-43.8	0,13,2190	78	64	69		5612	5.9	1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USH2A	NM_206933.2	94	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	probably-damaging	1871/5203	216246603	14,12992	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.chr1:216246603C>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.5612G>A	1.37:g.216246603C>T	ENSP00000305941:p.Gly1871Asp	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.G1871D|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.G1871D			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	5998	-			1871			Fibronectin type-III 5.|Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5612G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359386	0.82353	0.002951	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82081	-1.57;-1.57	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (3);Laminin G domain (2);	0.000000	0.45867	D	0.000322	D	0.91805	0.7407	M	0.81239	2.535	0.43133	D	0.99487	D	0.89917	1.0	D	0.81914	0.995	D	0.90759	0.4663	10	0.45353	T	0.12	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	1871	O75445	USH2A_HUMAN	D	1871	ENSP00000305941:G1871D;ENSP00000355910:G1871D	ENSP00000305941:G1871D	G	-	2	0	USH2A	214313226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.754000	0.62191	2.808000	0.96608	0.655000	0.94253	GGT		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	6	10	6	---	---	---	---	T	216246603	C	T	216246603	3	4	318	1	0	0	0	0	1	0	0	0	17033	507	18	2	10176	2	USH2A	1	216246603	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	116866136	216246603	33004018	2	11467										
ALMS1	7840	broad.mit.edu	37	chr2	73717897	73717897	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacagtgcaaagccccataTgtagatcatcaaatgagaga	9	8	2	3	rs541559170	byFrequency	TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:73717897T>G	ENST00000264448.6	+	10	8919	c.8808T>G	c.(8806-8808)taT>taG	p.Y2936*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y2894*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2936					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						AAGCCCCATATGTAGATCATC	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.(8806-8808)taT>taG		Alstrom syndrome 1							199	184	189					2																	73717897		1886	4109	5995	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717897T>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.8808T>G	2.37:g.73717897T>G	ENSP00000264448:p.Tyr2936*		Somatic				ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Y2894*	p.Y2936*	NM_015120.4	NP_055935	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			10	8919	+			2936					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8808T>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	t	47	13.098870	0.99719	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.78	1.04	0.20106	.	0.694941	0.13228	N	0.403881	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.4028	0.16305	0.0:0.09:0.3465:0.5635	.	.	.	.	X	2894;2936	.	ENSP00000264448:Y2936X	Y	+	3	2	ALMS1	73571405	0.076000	0.21285	0.016000	0.15963	0.021000	0.10359	0.421000	0.21280	0.177000	0.19895	-0.299000	0.09455	TAT		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	136	5	136	---	---	---	---	G	73717897	T	G	73717897	4	3	318	1	0	0	0	0	0	1	0	0	535	1471	51	5	8846	5	ALMS1	2	73717897	Nonsense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		73717897	169481476	3	11468										
POTEE	445582	broad.mit.edu	37	chr2	131976101	131976101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggagagcggcaagagcaaCgtgggcacttctggagacca	16	9	1	3	rs558466498		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr2:131976101C>T	ENST00000356920.5	+	1	220	c.126C>T	c.(124-126)aaC>aaT	p.N42N	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.N42N|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	42					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCAAGAGCAACGTGGGCACTT	0.592													c|||	1	0.000199681	0	0	5008	,	,		17826	0		0	False		,,,				2504	0.001					ENST00000356920.5																			0											c.(124-126)aaC>aaT		POTE ankyrin domain family, member E							131	151	144					2																	131976101		2194	4298	6492	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976101C>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.126C>T	2.37:g.131976101C>T			Somatic				POTEE_ENST00000358087.5_Silent_p.N42N|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.N42N	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			1	220	+			42					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.126C>T	CCDS46414.1																																																																																				0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		4	160	4	160	---	---	---	---	T	131976101	C	T	131976101	2	4	318	1	0	0	0	0	0	0	0	1	12264	535	19	2		2	POTEE	2	131976101	Silent	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	58258204	131976101	111223272	4	11469										
ITGA2	3673	broad.mit.edu	37	chr5	52344214	52344214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgtggtcctctgtgggcaCagcaatgtgggaatcagtat	13	8	2	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:52344214C>A	ENST00000296585.5	+	5	552	c.409C>A	c.(409-411)Cag>Aag	p.Q137K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	137					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)				TCTGTGGGCACAGCAATGTGG	0.438																																						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.(409-411)Cag>Aag		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							150	144	146					5																	52344214		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.chr5:52344214C>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.409C>A	5.37:g.52344214C>A	ENSP00000296585:p.Gln137Lys		Somatic					p.Q137K	NM_002203.3	NP_002194.2	WXS	Illumina GAIIx	Phase_I	P17301	ITA2_HUMAN			5	552	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	137					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.409C>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.346923	0.41599	.	.	ENSG00000164171	ENST00000296585	D	0.91894	-2.93	5.34	5.34	0.76211	.	0.259371	0.39909	N	0.001235	D	0.90933	0.7150	M	0.64170	1.965	0.80722	D	1	B;B	0.20052	0.006;0.041	B;B	0.19391	0.02;0.025	D	0.87244	0.2268	10	0.27082	T	0.32	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	137;137	E7ESP4;P17301	.;ITA2_HUMAN	K	137	ENSP00000296585:Q137K	ENSP00000296585:Q137K	Q	+	1	0	ITGA2	52379971	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.753000	0.68736	2.482000	0.83794	0.557000	0.71058	CAG		0.438	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		13	6	13	6	---	---	---	---	A	52344214	C	A	52344214	3	1	318	1	0	0	0	0	1	0	0	0	7875	479	17	3	427	3	ITGA2	5	52344214	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		52344214	128571046	5	11470										
NRG2	9542	broad.mit.edu	37	chr5	139232068	139232068	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggtgagaaggagaacagGagtggctcccagagaaggtg	18	5	0	3	rs377110446		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:139232068G>C	ENST00000361474.1	-	8	1717	c.1493C>G	c.(1492-1494)tCc>tGc	p.S498C	NRG2_ENST00000289409.4_Missense_Mutation_p.S492C|NRG2_ENST00000358522.3_Missense_Mutation_p.S500C|NRG2_ENST00000340391.3_Missense_Mutation_p.S295C|NRG2_ENST00000545385.1_Missense_Mutation_p.S500C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289422.7_Missense_Mutation_p.S506C|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000541337.1_Missense_Mutation_p.S432C	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	498					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)			AGGAGAACAGGAGTGGCTCCC	0.537																																						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.(1294-1296)tCc>tGc		neuregulin 2		G	CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER	0,4406		0,0,2203	230	180	197		1295,1493,1475,1517,1499	5.2	1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRG2	NM_001184935.1,NM_004883.2,NM_013981.3,NM_013982.2,NM_013983.2	112,112,112,112,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	432/785,498/851,492/845,506/859,500/853	139232068	1,13005	2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139232068G>C		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.1493C>G	5.37:g.139232068G>C	ENSP00000354910:p.Ser498Cys		Somatic				NRG2_ENST00000289409.4_Missense_Mutation_p.S492C|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S295C|NRG2_ENST00000289422.7_Missense_Mutation_p.S506C|NRG2_ENST00000545385.1_Missense_Mutation_p.S500C|NRG2_ENST00000361474.1_Missense_Mutation_p.S498C|NRG2_ENST00000358522.3_Missense_Mutation_p.S500C|NRG2_ENST00000394770.1_3'UTR	p.S432C	NM_001184935.1	NP_001171864.1	WXS	Illumina GAIIx	Phase_I	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1524	-			498						Missense_Mutation	SNP	ENST00000361474.1	37	c.1295C>G	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059049	0.55325	0.0	1.16E-4	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.25	5.25	0.73442	Neuregulin 1-related, C-terminal (1);	0.145792	0.47852	D	0.000207	T	0.65312	0.2679	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72982	0.965;0.979;0.965;0.965	T	0.63466	-0.6631	10	0.40728	T	0.16	-22.7132	13.7792	0.63073	0.0:0.0:0.8465:0.1535	.	492;498;500;506	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	C	432;506;498;506;500;295;492;500	ENSP00000444235:S432C;ENSP00000289422:S506C;ENSP00000354910:S498C;ENSP00000438753:S500C;ENSP00000342660:S295C;ENSP00000289409:S492C;ENSP00000351323:S500C	ENSP00000289409:S492C	S	-	2	0	NRG2	139212252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.087000	0.41653	2.458000	0.83093	0.467000	0.42956	TCC		0.537	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		11	26	11	26	---	---	---	---	C	139232068	G	C	139232068	3	2	318	1	0	0	0	0	1	0	0	0	10648	1174	41	4	1071	4	NRG2	5	139232068	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	86887854	139232068	41683192	6	11471										
PCDHGA8	9708	broad.mit.edu	37	chr5	140772818	140772818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaaaaattaacgaaatcgcGgttcctggagcacgttatcc	9	9	0	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr5:140772818G>A	ENST00000398604.2	+	1	438	c.438G>A	c.(436-438)gcG>gcA	p.A146A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|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	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	146	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)			ACGAAATCGCGGTTCCTGGAG	0.453																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(436-438)gcG>gcA									52	57	55					5																	140772818		1945	4156	6101	SO:0001819	synonymous_variant	9708							g.chr5:140772818G>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.438G>A	5.37:g.140772818G>A			Somatic				PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|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	p.A146A	NM_032088.1	NP_114477.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	438	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.438G>A	CCDS47291.1																																																																																				0.453	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		26	39	26	39	---	---	---	---	A	140772818	G	A	140772818	2	1	318	1	0	0	0	0	0	0	0	1	11560	1103	39	2		2	PCDHGA8	5	140772818	Silent	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	1540750	140772818	40142442	7	11472										
C6orf89	221477	broad.mit.edu	37	chr6	36891198	36891198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttggtcatctgcgatggaaCcgctttctcagaactgtagg	11	9	3	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr6:36891198C>A	ENST00000480824.2	+	9	1319	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	C6orf89_ENST00000373685.1_Missense_Mutation_p.T342N|C6orf89_ENST00000355190.3_Missense_Mutation_p.T349N|C6orf89_ENST00000510325.2_Missense_Mutation_p.T236N|C6orf89_ENST00000359359.2_Missense_Mutation_p.T236N			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	342					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						TGCGATGGAACCGCTTTCTCA	0.473																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(1024-1026)aCc>aAc		chromosome 6 open reading frame 89							87	72	77					6																	36891198		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36891198C>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.1025C>A	6.37:g.36891198C>A	ENSP00000475947:p.Thr342Asn		Somatic				C6orf89_ENST00000510325.2_Missense_Mutation_p.T236N|C6orf89_ENST00000359359.2_Missense_Mutation_p.T236N|C6orf89_ENST00000355190.3_Missense_Mutation_p.T349N|C6orf89_ENST00000373685.1_Missense_Mutation_p.T342N	p.T342N			WXS	Illumina GAIIx	Phase_I	Q6UWU4	CF089_HUMAN			9	1319	+			342					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.1025C>A		.	.	.	.	.	.	.	.	.	.	C	17.82	3.482801	0.63962	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.56	5.56	0.83823	.	0.114234	0.64402	D	0.000008	T	0.65544	0.2701	M	0.62723	1.935	0.38208	D	0.94037	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.69235	-0.5198	9	0.66056	D	0.02	-0.4644	15.0388	0.71770	0.0:1.0:0.0:0.0	.	342;349	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	N	236;236;349;342	.	ENSP00000347322:T349N	T	+	2	0	C6orf89	36999176	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.818000	0.55678	2.634000	0.89283	0.561000	0.74099	ACC		0.473	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		12	40	12	40	---	---	---	---	A	36891198	C	A	36891198	3	1	318	1	0	0	0	0	1	0	0	0	2373	507	18	3	1076	3	C6orf89	6	36891198	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		36891198	134223869	8	11473										
HGF	3082	broad.mit.edu	37	chr7	81359092	81359092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtgtcattcatagtattgTcagctattggcaaaaaacaa	7	7	3	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:81359092T>C	ENST00000222390.5	-	8	1095	c.869A>G	c.(868-870)gAc>gGc	p.D290G	HGF_ENST00000457544.2_Missense_Mutation_p.D285G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	290					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						CATAGTATTGTCAGCTATTGG	0.358																																						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.(868-870)gAc>gGc		hepatocyte growth factor (hepapoietin A; scatter factor)							102	97	99					7																	81359092		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.chr7:81359092T>C		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.869A>G	7.37:g.81359092T>C	ENSP00000222390:p.Asp290Gly		Somatic				HGF_ENST00000457544.2_Missense_Mutation_p.D285G	p.D290G	NM_000601.4	NP_000592.3	WXS	Illumina GAIIx	Phase_I	P14210	HGF_HUMAN			8	1095	-			290					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.869A>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	6.167	0.398911	0.11696	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.62105	0.05;0.05	5.61	5.61	0.85477	Kringle (2);Kringle-like fold (1);	0.447497	0.27518	N	0.019006	T	0.46698	0.1406	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.38265	-0.9669	10	0.27082	T	0.32	.	11.6784	0.51442	0.1324:0.0:0.0:0.8676	.	285;290	P14210-3;P14210	.;HGF_HUMAN	G	290;285	ENSP00000222390:D290G;ENSP00000391238:D285G	ENSP00000222390:D290G	D	-	2	0	HGF	81197028	0.977000	0.34250	1.000000	0.80357	0.117000	0.20001	2.304000	0.43655	2.254000	0.74563	0.533000	0.62120	GAC		0.358	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		21	42	21	42	---	---	---	---	C	81359092	T	C	81359092	3	2	318	1	0	0	0	0	1	0	0	0	7085	1667	58	2	1361	2	HGF	7	81359092	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		81359092	77779571	9	11474										
LAMB1	3912	broad.mit.edu	37	chr7	107626753	107626753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgaagtatctatacacacccCaggttttcccaaagtcggac	7	13	1	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr7:107626753C>A	ENST00000222399.6	-	6	709	c.479G>T	c.(478-480)tGg>tTg	p.W160L	LAMB1_ENST00000393560.1_Missense_Mutation_p.W160L|LAMB1_ENST00000393561.1_Missense_Mutation_p.W184L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	160	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						ATACACACCCCAGGTTTTCCC	0.438																																						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.(550-552)tGg>tTg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92	91	91					7																	107626753		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.chr7:107626753C>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.479G>T	7.37:g.107626753C>A	ENSP00000222399:p.Trp160Leu		Somatic				LAMB1_ENST00000393560.1_Missense_Mutation_p.W160L|LAMB1_ENST00000222399.6_Missense_Mutation_p.W160L	p.W184L			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			4	735	-			160			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.551G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356967	0.95854	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79033	-1.23;-1.23;-1.23	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.92061	0.7484	H	0.94345	3.525	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	0.93404	0.6763	9	0.87932	D	0	.	20.1916	0.98230	0.0:1.0:0.0:0.0	.	160;160;184	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	184;160;160	ENSP00000377191:W184L;ENSP00000222399:W160L;ENSP00000377190:W160L	ENSP00000222399:W160L	W	-	2	0	LAMB1	107413989	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	TGG		0.438	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		15	40	15	40	---	---	---	---	A	107626753	C	A	107626753	3	1	318	1	0	0	0	0	1	0	0	0	8610	595	21	1	4997	1	LAMB1	7	107626753	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	26267661	107626753	51511910	10	11475										
GOT1L1	137362	broad.mit.edu	37	chr8	37794525	37794525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccacccacttggtgtcaaCttgcagtcgataatgttccc	8	14	1	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:37794525C>A	ENST00000307599.4	-	5	669	c.570G>T	c.(568-570)aaG>aaT	p.K190N	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	190					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)			TTGGTGTCAACTTGCAGTCGA	0.537																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(568-570)aaG>aaT		glutamic-oxaloacetic transaminase 1-like 1							142	156	151					8																	37794525		2049	4201	6250	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794525C>A	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.570G>T	8.37:g.37794525C>A	ENSP00000303077:p.Lys190Asn		Somatic					p.K190N	NM_152413.2	NP_689626.2	WXS	Illumina GAIIx	Phase_I	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		5	669	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	190					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.570G>T	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	7.259	0.604839	0.14002	.	.	ENSG00000169154	ENST00000307599	D	0.90444	-2.67	4.66	-0.921	0.10472	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.178000	0.06441	N	0.725898	T	0.80829	0.4698	N	0.22421	0.69	0.09310	N	1	B	0.30973	0.302	B	0.28385	0.089	T	0.70128	-0.4957	10	0.72032	D	0.01	-6.7023	1.5989	0.02669	0.2677:0.4185:0.1329:0.1809	.	190	Q8NHS2	AATC2_HUMAN	N	190	ENSP00000303077:K190N	ENSP00000303077:K190N	K	-	3	2	GOT1L1	37913682	0.000000	0.05858	0.004000	0.12327	0.179000	0.23085	-0.734000	0.04893	0.072000	0.16694	0.484000	0.47621	AAG		0.537	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		14	29	14	29	---	---	---	---	A	37794525	C	A	37794525	3	1	318	1	0	0	0	0	1	0	0	0	6580	564	20	3	560	3	GOT1L1	8	37794525	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		37794525	108569497	11	11476										
LRP12	29967	broad.mit.edu	37	chr8	105509398	105509398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactttcaaacacacaacgaTtgtttttacaatggaaattt	4	7	1	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr8:105509398T>C	ENST00000276654.5	-	5	1490	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	LRP12_ENST00000424843.2_Missense_Mutation_p.N442S|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	461	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)			CACACAACGATTGTTTTTACA	0.423																																						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.(1381-1383)aAt>aGt		low density lipoprotein receptor-related protein 12							115	105	108					8																	105509398		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.chr8:105509398T>C	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.1382A>G	8.37:g.105509398T>C	ENSP00000276654:p.Asn461Ser		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.N442S	p.N461S	NM_013437.4	NP_038465.1	WXS	Illumina GAIIx	Phase_I	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1490	-			461			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1382A>G	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343013	0.61073	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94966	-3.57;-3.57;-3.57	5.79	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	N	0.16201	0.385	0.80722	D	1	B;B	0.22746	0.06;0.074	B;B	0.27887	0.05;0.084	D	0.83873	0.0275	10	0.44086	T	0.13	-29.8765	11.8215	0.52240	0.0:0.0683:0.0:0.9317	.	442;461	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	442;461;50	ENSP00000399148:N442S;ENSP00000276654:N461S;ENSP00000429305:N50S	ENSP00000276654:N461S	N	-	2	0	LRP12	105578574	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	8.040000	0.89188	1.030000	0.39839	0.455000	0.32223	AAT		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		13	44	13	44	---	---	---	---	C	105509398	T	C	105509398	3	2	318	1	0	0	0	0	1	0	0	0	8954	1493	52	2	1209	2	LRP12	8	105509398	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	67714873	105509398	40854624	12	11477										
A1CF	29974	broad.mit.edu	37	chr10	52573721	52573721	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgtcttctcttttgtctcCtttgacctggtatcctcgac	6	12	3	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:52573721C>G	ENST00000373993.1	-	8	1287	c.1243G>C	c.(1243-1245)Gga>Cga	p.G415R	A1CF_ENST00000373995.3_Missense_Mutation_p.G415R|A1CF_ENST00000395489.2_Missense_Mutation_p.G408R|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.G415R|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.G360R|A1CF_ENST00000373997.3_Missense_Mutation_p.G407R|A1CF_ENST00000374001.2_Missense_Mutation_p.G407R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	415					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						CTTTTGTCTCCTTTGACCTGG	0.493																																						ENST00000374001.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1219-1221)Gga>Cga		APOBEC1 complementation factor							138	136	137					10																	52573721		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.chr10:52573721C>G	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.1243G>C	10.37:g.52573721C>G	ENSP00000363105:p.Gly415Arg		Somatic				A1CF_ENST00000373995.3_Missense_Mutation_p.G415R|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.G360R|A1CF_ENST00000373997.3_Missense_Mutation_p.G407R|A1CF_ENST00000395489.2_Missense_Mutation_p.G408R|A1CF_ENST00000282641.2_Missense_Mutation_p.G415R|A1CF_ENST00000373993.1_Missense_Mutation_p.G415R	p.G407R			WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			9	1358	-						Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1219G>C	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428032	0.43122	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.13538	2.74;2.76;2.74;2.73;2.76;2.58;2.76	5.87	5.87	0.94306	.	1.732920	0.03318	U	0.191521	T	0.25975	0.0633	L	0.33485	1.01	0.44181	D	0.996996	P;P;P;P	0.46277	0.875;0.779;0.859;0.683	B;B;P;P	0.51385	0.413;0.296;0.668;0.578	T	0.05683	-1.0870	10	0.25751	T	0.34	-11.3978	17.713	0.88327	0.0:1.0:0.0:0.0	.	408;415;407;415	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	R	407;415;407;415;415;360;390;408	ENSP00000363113:G407R;ENSP00000363105:G415R;ENSP00000363109:G407R;ENSP00000363107:G415R;ENSP00000282641:G415R;ENSP00000378873:G360R;ENSP00000378868:G408R	ENSP00000282641:G415R	G	-	1	0	A1CF	52243727	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.393000	0.59665	2.780000	0.95670	0.655000	0.94253	GGA		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		17	39	17	39	---	---	---	---	G	52573721	C	G	52573721	3	3	318	1	0	0	0	0	1	0	0	0	2	690	24	4	557	4	A1CF	10	52573721	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		52573721	82961026	13	11478										
LRRTM3	347731	broad.mit.edu	37	chr10	68687766	68687766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacagcatctgtggcaaaagTactacagagaggtttgatct	10	7	2	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:68687766T>G	ENST00000361320.4	+	2	1670	c.1092T>G	c.(1090-1092)agT>agG	p.S364R	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	364					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						GTGGCAAAAGTACTACAGAGA	0.512																																						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.(1090-1092)agT>agG		leucine rich repeat transmembrane neuronal 3							65	66	66					10																	68687766		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687766T>G	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.1092T>G	10.37:g.68687766T>G	ENSP00000355187:p.Ser364Arg		Somatic				CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	p.S364R	NM_178011.3	NP_821079.3	WXS	Illumina GAIIx	Phase_I	Q86VH5	LRRT3_HUMAN			2	1670	+			364					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1092T>G	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	1.535	-0.543444	0.04053	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.44881	0.91	5.94	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.29908	0.895	0.37848	D	0.929273	B;B	0.18310	0.016;0.027	B;B	0.18263	0.009;0.021	T	0.10245	-1.0638	10	0.12103	T	0.63	.	8.2537	0.31741	0.0:0.2214:0.0:0.7786	.	364;364	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	R	364	ENSP00000355187:S364R	ENSP00000355187:S364R	S	+	3	2	LRRTM3	68357772	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.161000	0.16481	0.500000	0.27991	0.528000	0.53228	AGT		0.512	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		4	36	4	36	---	---	---	---	G	68687766	T	G	68687766	3	3	318	1	0	0	0	0	1	0	0	0	9041	1635	57	5	1098	5	LRRTM3	10	68687766	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	16114045	68687766	66846981	14	11479										
PNLIPRP1	5407	broad.mit.edu	37	chr10	118352048	118352048	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagctgggtgacagacatgTgcaaggtaggagccagctct	15	8	1	3			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr10:118352048T>A	ENST00000528052.1	+	4	396	c.325T>A	c.(325-327)Tgc>Agc	p.C109S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	109					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			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)		GACAGACATGTGCAAGGTAGG	0.448																																						ENST00000528052.1																			0				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.(325-327)Tgc>Agc		pancreatic lipase-related protein 1							83	81	82					10																	118352048		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118352048T>A	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.325T>A	10.37:g.118352048T>A	ENSP00000433933:p.Cys109Ser		Somatic				PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.C109S|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.C109S	p.C109S			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	4	396	+			109					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.325T>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933653	0.52866	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.21	5.21	0.72293	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.89917	1.0;0.985	D;D	0.97110	1.0;0.943	D	0.95501	0.8577	10	0.87932	D	0	-10.1575	14.3502	0.66697	0.0:0.0:0.0:1.0	.	109;109	P54315;P54315-2	LIPR1_HUMAN;.	S	109	ENSP00000436123:C109S;ENSP00000351695:C109S;ENSP00000433933:C109S;ENSP00000400963:C109S;ENSP00000437263:C109S;ENSP00000433785:C109S;ENSP00000431207:C109S;ENSP00000434159:C109S	ENSP00000351695:C109S	C	+	1	0	PNLIPRP1	118342038	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.212000	0.72188	2.088000	0.63022	0.533000	0.62120	TGC		0.448	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		12	28	12	28	---	---	---	---	A	118352048	T	A	118352048	3	1	318	1	0	0	0	0	1	0	0	0	12150	1696	59	5	335	5	PNLIPRP1	10	118352048	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08	49664282	118352048	17182699	15	11480										
LRP4	4038	broad.mit.edu	37	chr11	46924428	46924428	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactctccaagagcactcacTgcacatgtgaagtggctccg	9	14	2	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:46924428T>G	ENST00000378623.1	-	2	347	c.105A>C	c.(103-105)gcA>gcC	p.A35A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	35	LDL-receptor class A 1. {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)		GAGCACTCACTGCACATGTGA	0.587																																						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.(103-105)gcA>gcC		low density lipoprotein receptor-related protein 4							81	71	74					11																	46924428		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.chr11:46924428T>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.105A>C	11.37:g.46924428T>G			Somatic					p.A35A	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	2	347	-			35			LDL-receptor class A 1.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.105A>C	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		11	22	11	22	---	---	---	---	G	46924428	T	G	46924428	2	3	318	1	0	0	0	0	0	0	0	1	8959	1567	55	5		5	LRP4	11	46924428	Silent	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		46924428	88082088	16	11481										
OR5L2	26338	broad.mit.edu	37	chr11	55594965	55594965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atatctttaacaaggacaaaGccatctccttcctagggtgc	7	11	2	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:55594965G>A	ENST00000378397.1	+	1	271	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, 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.A91T(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)				CAAGGACAAAGCCATCTCCTT	0.463										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.A91T(1)	lung(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.(271-273)Gcc>Acc		olfactory receptor, family 5, subfamily L, member 2							202	190	194					11																	55594965		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594965G>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.271G>A	11.37:g.55594965G>A	ENSP00000367650:p.Ala91Thr	HNSCC(27;0.073)	Somatic					p.A91T	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	Q8NGL0	OR5L2_HUMAN			1	271	+		all_epithelial(135;0.208)	91					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.271G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.150	-1.092451	0.01858	.	.	ENSG00000205030	ENST00000378397	T	0.01113	5.32	5.21	-4.85	0.03142	GPCR, rhodopsin-like superfamily (1);	1.280730	0.05354	N	0.532408	T	0.00384	0.0012	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46541	-0.9184	10	0.02654	T	1	-1.6022	5.4008	0.16295	0.473:0.0:0.2951:0.2319	.	91	Q8NGL0	OR5L2_HUMAN	T	91	ENSP00000367650:A91T	ENSP00000367650:A91T	A	+	1	0	OR5L2	55351541	0.000000	0.05858	0.048000	0.18961	0.609000	0.37215	-2.846000	0.00735	-0.880000	0.03997	-0.333000	0.08304	GCC		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	132	5	132	---	---	---	---	A	55594965	G	A	55594965	3	1	318	1	0	0	0	0	1	0	0	0	11171	971	34	2	273	2	OR5L2	11	55594965	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	8670537	55594965	79411551	17	11482										
ATM	472	broad.mit.edu	37	chr11	108180935	108180935	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	gctttctggctggatttaaaTtatctagaagttgccaaggt							TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr11:108180935delT	ENST00000452508.2	+	40	6000	c.5811delT	c.(5809-5811)aatfs	p.N1937fs	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.N1937fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1937					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)	TGGATTTAAATTATCTAGAAG	0.328			"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.(5809-5811)aatfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							71	75	74					11																	108180935		2201	4297	6498	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.chr11:108180935delT	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.5811delT	11.37:g.108180935delT	ENSP00000388058:p.Asn1937fs	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Frame_Shift_Del_p.N1937fs|C11orf65_ENST00000525729.1_Intron	p.N1937fs	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	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	6196	+		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)	1937					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.5811delT	CCDS31669.1																																																																																				0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		12	34	12	34	---	---	---	---	-	108180935	T	-	108180935	7	5	318	1	0	1	0	1	0	0	0	0	1109	1490	52	0	5961	0	ATM	11	108180935	Frame_Shift_Del	DEL	T	TCGA-YL-A8SH-01B-11D-A377-08	52585970	108180935	26825581	18	11483										
TBX3	6926	broad.mit.edu	37	chr12	115118775	115118775	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttccccagtagcggggctgTccgggtgaatgtacatcctc	13	12	0	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr12:115118775T>A	ENST00000257566.3	-	2	955	c.566A>T	c.(565-567)gAc>gTc	p.D189V	TBX3_ENST00000349155.2_Missense_Mutation_p.D189V	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	189					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)		AGCGGGGCTGTCCGGGTGAAT	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.(565-567)gAc>gTc		T-box 3							112	106	108					12																	115118775		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.chr12:115118775T>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.566A>T	12.37:g.115118775T>A	ENSP00000257566:p.Asp189Val		Somatic				TBX3_ENST00000257566.3_Missense_Mutation_p.D189V	p.D189V	NM_005996.3	NP_005987.3	WXS	Illumina GAIIx	Phase_I	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1529	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		189					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.566A>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	T	30	5.052814	0.93793	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.91464	-2.85;-2.85	5.81	5.81	0.92471	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.97110	0.994;1.0;0.997	D	0.99016	1.0816	10	0.87932	D	0	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	189;189;189	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	V	189	ENSP00000257567:D189V;ENSP00000257566:D189V	ENSP00000257566:D189V	D	-	2	0	TBX3	113603158	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.698000	0.84413	2.225000	0.72522	0.533000	0.62120	GAC		0.468	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		5	58	5	58	---	---	---	---	A	115118775	T	A	115118775	3	1	318	1	0	0	0	0	1	0	0	0	15656	1667	58	5	1693	5	TBX3	12	115118775	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		115118775	18733120	19	11484										
THTPA	79178	broad.mit.edu	37	chr14	24026130	24026130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gcaggctgaccactggctgcGacgacgagaggatagtggat	16	9	0	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:24026130G>A	ENST00000288014.6	+	1	900	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	THTPA_ENST00000404535.3_Missense_Mutation_p.R55Q|THTPA_ENST00000556015.1_Missense_Mutation_p.R55Q|THTPA_ENST00000554970.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	55	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)		CACTGGCTGCGACGACGAGAG	0.577																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(163-165)cGa>cAa		thiamine triphosphatase	Thiamine(DB00152)						66	53	57					14																	24026130		2203	4300	6503	SO:0001583	missense	79178				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026130G>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.164G>A	14.37:g.24026130G>A	ENSP00000288014:p.Arg55Gln		Somatic				RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.R55Q|THTPA_ENST00000556015.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R55Q|THTPA_ENST00000554970.1_Missense_Mutation_p.R55Q|RP11-66N24.4_ENST00000556354.1_RNA	p.R55Q			WXS	Illumina GAIIx	Phase_I	Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	900	+	all_cancers(95;0.000251)		55					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.164G>A	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510741	0.96386	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.91	5.91	0.95273	CYTH domain (2);CYTH-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92164	0.5738	10	0.87932	D	0	-7.5265	17.7923	0.88558	0.0:0.0:1.0:0.0	.	55;55	G3V4J3;Q9BU02	.;THTPA_HUMAN	Q	55	ENSP00000384580:R55Q;ENSP00000288014:R55Q;ENSP00000452281:R55Q;ENSP00000451835:R55Q;ENSP00000452465:R55Q;ENSP00000450459:R55Q	ENSP00000288014:R55Q	R	+	2	0	THTPA	23095970	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	6.831000	0.75324	2.793000	0.96121	0.655000	0.94253	CGA		0.577	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			4	10	4	10	---	---	---	---	A	24026130	G	A	24026130	3	1	318	1	0	0	0	0	1	0	0	0	15878	1058	37	2	166	2	THTPA	14	24026130	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08		24026130	83323410	20	11485										
DDX24	57062	broad.mit.edu	37	chr14	94526642	94526642	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtagaagtctttctcatcaGtctcacaatggatcttggtc	8	9	5	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:94526642G>C	ENST00000330836.5	-	5	1846	c.1715C>G	c.(1714-1716)aCt>aGt	p.T572S	DDX24_ENST00000555054.1_Missense_Mutation_p.T529S|DDX24_ENST00000544005.1_Missense_Mutation_p.T322S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	572					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTCTCATCAGTCTCACAATG	0.498																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1714-1716)aCt>aGt		DEAD (Asp-Glu-Ala-Asp) box helicase 24							206	180	189					14																	94526642		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526642G>C	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1715C>G	14.37:g.94526642G>C	ENSP00000328690:p.Thr572Ser		Somatic				DDX24_ENST00000555054.1_Missense_Mutation_p.T529S|DDX24_ENST00000544005.1_Missense_Mutation_p.T322S	p.T572S	NM_020414.3	NP_065147.1	WXS	Illumina GAIIx	Phase_I	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1846	-		all_cancers(154;0.12)	572					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1715C>G	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937283	0.34189	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04654	3.58;3.58;3.58	5.74	3.8	0.43715	.	0.341205	0.36854	N	0.002361	T	0.04724	0.0128	L	0.31065	0.9	0.25906	N	0.983298	B	0.18310	0.027	B	0.17433	0.018	T	0.34675	-0.9819	10	0.18276	T	0.48	-2.7502	15.5826	0.76455	0.0:0.0:0.7508:0.2492	.	572	Q9GZR7	DDX24_HUMAN	S	572;322;517;198;529;529	ENSP00000328690:T572S;ENSP00000440623:T322S;ENSP00000452145:T529S	ENSP00000328690:T572S	T	-	2	0	DDX24	93596395	0.999000	0.42202	0.982000	0.44146	0.998000	0.95712	2.864000	0.48404	1.536000	0.49237	0.563000	0.77884	ACT		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		28	46	28	46	---	---	---	---	C	94526642	G	C	94526642	3	2	318	1	0	0	0	0	1	0	0	0	4351	1029	36	4	884	4	DDX24	14	94526642	Missense_Mutation	SNP	G	TCGA-YL-A8SH-01B-11D-A377-08	70500512	94526642	12822898	21	11486										
AHNAK2	113146	broad.mit.edu	37	chr14	105414154	105414154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagtttcacgtccacttggCcagcctggacctccaggtca	11	14	2	0	rs374320063		TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr14:105414154C>T	ENST00000333244.5	-	7	7753	c.7634G>A	c.(7633-7635)gGc>gAc	p.G2545D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2545						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)			GTCCACTTGGCCAGCCTGGAC	0.642																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7633-7635)gGc>gAc		AHNAK nucleoprotein 2							106	118	114					14																	105414154		1897	4111	6008	SO:0001583	missense	113146					nucleus		g.chr14:105414154C>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.7634G>A	14.37:g.105414154C>T	ENSP00000353114:p.Gly2545Asp		Somatic				AHNAK2_ENST00000557457.1_Intron	p.G2545D	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	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	7753	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2545					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7634G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618337	0.28801	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.7	-7.39	0.01402	.	.	.	.	.	T	0.01156	0.0038	M	0.68952	2.095	0.09310	N	1	P	0.50528	0.936	P	0.47603	0.551	T	0.00212	-1.1914	9	0.44086	T	0.13	.	4.1089	0.10050	0.301:0.4751:0.1225:0.1013	.	2545	Q8IVF2	AHNK2_HUMAN	D	2545	ENSP00000353114:G2545D	ENSP00000353114:G2545D	G	-	2	0	AHNAK2	104485199	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.143000	0.01297	-2.347000	0.00620	-1.231000	0.01572	GGC		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	157	4	157	---	---	---	---	T	105414154	C	T	105414154	3	4	318	1	0	0	0	0	1	0	0	0	415	739	26	2	9757	2	AHNAK2	14	105414154	Missense_Mutation	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08	10887512	105414154	1935386	22	11487										
TCF12	6938	broad.mit.edu	37	chr15	57484403	57484403	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgggagcccagcacagctAtcttcttcaggaaaacctgg	10	12	3	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr15:57484403A>G	ENST00000267811.5	+	7	742	c.438A>G	c.(436-438)ctA>ctG	p.L146L	TCF12_ENST00000557843.1_Silent_p.L146L|TCF12_ENST00000333725.5_Silent_p.L146L|TCF12_ENST00000452095.2_Silent_p.L142L|TCF12_ENST00000438423.2_Silent_p.L146L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	146					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)		CAGCACAGCTATCTTCTTCAG	0.468			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.(436-438)ctA>ctG		transcription factor 12							92	94	94					15																	57484403		2192	4292	6484	SO:0001819	synonymous_variant	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.chr15:57484403A>G	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.438A>G	15.37:g.57484403A>G			Somatic				TCF12_ENST00000452095.2_Silent_p.L142L|TCF12_ENST00000557843.1_Silent_p.L146L|TCF12_ENST00000333725.5_Silent_p.L146L|TCF12_ENST00000438423.2_Silent_p.L146L	p.L146L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	7	742	+		Colorectal(260;0.0907)	146					Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.438A>G	CCDS10159.1																																																																																				0.468	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		16	42	16	42	---	---	---	---	G	57484403	A	G	57484403	2	3	318	1	0	0	0	0	0	0	0	1	15684	436	16	2		2	TCF12	15	57484403	Silent	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		57484403	45046989	23	11488										
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attcaggatggagaatttgaAttttgcccgaacttcactct	8	8	3	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	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_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_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)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_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	WXS	Illumina GAIIx	Phase_I	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		23	62	23	62	---	---	---	---	C	47696644	A	C	47696644	3	2	318	1	0	0	0	0	1	0	0	0	15083	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		47696644	33498566	24	11489										
GYS1	2997	broad.mit.edu	37	chr19	49490530	49490530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtaccacggcactccgatgTtgcaggtatcccagagctct	10	14	1	1			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr19:49490530T>C	ENST00000323798.3	-	3	609	c.413A>G	c.(412-414)aAc>aGc	p.N138S	GYS1_ENST00000263276.6_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.N58S|GYS1_ENST00000541188.1_Missense_Mutation_p.N58S|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	138					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)		CACTCCGATGTTGCAGGTATC	0.637																																						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.(412-414)aAc>aGc		glycogen synthase 1 (muscle)							79	57	64					19																	49490530		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49490530T>C		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.413A>G	19.37:g.49490530T>C	ENSP00000317904:p.Asn138Ser		Somatic				GYS1_ENST00000263276.6_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.N58S|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Missense_Mutation_p.N58S|GYS1_ENST00000457974.1_5'UTR	p.N138S	NM_002103.4	NP_002094.2	WXS	Illumina GAIIx	Phase_I	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)	3	609	-		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)	138					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.413A>G	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	T	9.550	1.115782	0.20795	.	.	ENSG00000104812	ENST00000323798;ENST00000541188;ENST00000540532;ENST00000457974	T;T;T	0.62364	0.03;0.03;0.03	3.82	1.72	0.24424	.	0.375071	0.31082	N	0.008299	T	0.35128	0.0921	N	0.11427	0.14	0.35386	D	0.790301	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.17684	-1.0361	10	0.22109	T	0.4	-20.8488	6.2651	0.20922	0.0:0.2247:0.0:0.7753	.	58;138	B7Z806;P13807	.;GYS1_HUMAN	S	138;58;58;137	ENSP00000317904:N138S;ENSP00000437922:N58S;ENSP00000445197:N58S	ENSP00000317904:N138S	N	-	2	0	GYS1	54182342	0.947000	0.32204	1.000000	0.80357	0.979000	0.70002	0.199000	0.17237	0.610000	0.30035	0.455000	0.32223	AAC		0.637	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		3	5	3	5	---	---	---	---	C	49490530	T	C	49490530	3	2	318	1	0	0	0	0	1	0	0	0	6912	1725	60	2	1856	2	GYS1	19	49490530	Missense_Mutation	SNP	T	TCGA-YL-A8SH-01B-11D-A377-08		49490530	9638453	25	11490										
NCOA3	8202	broad.mit.edu	37	chr20	46267838	46267838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctgtttctgttggctcaAgtcctccagtaaaaaatatc	7	11	2	0			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr20:46267838A>G	ENST00000371998.3	+	14	2790	c.2599A>G	c.(2599-2601)Agt>Ggt	p.S867G	NCOA3_ENST00000372004.3_Missense_Mutation_p.S867G|NCOA3_ENST00000371997.3_Missense_Mutation_p.S877G|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	867					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						TGTTGGCTCAAGTCCTCCAGT	0.438																																						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.(2599-2601)Agt>Ggt		nuclear receptor coactivator 3							132	125	127					20																	46267838		2203	4300	6503	SO:0001583	missense	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.chr20:46267838A>G	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.2599A>G	20.37:g.46267838A>G	ENSP00000361066:p.Ser867Gly		Somatic				NCOA3_ENST00000371998.3_Missense_Mutation_p.S867G|NCOA3_ENST00000371997.3_Missense_Mutation_p.S877G|NCOA3_ENST00000341724.6_Intron	p.S867G	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			14	2815	+			867					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2599A>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	0.478	-0.881188	0.02530	.	.	ENSG00000124151	ENST00000340189;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T	0.02032	4.69;4.66;4.49	5.48	1.94	0.25998	.	0.419679	0.26620	N	0.023379	T	0.01387	0.0045	N	0.14661	0.345	0.20074	N	0.999931	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;0.002;0.001;0.0;0.001;0.001	T	0.48969	-0.8987	10	0.25106	T	0.35	-2.4782	5.5729	0.17206	0.6259:0.1358:0.2383:0.0	.	867;877;871;867;867;867	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	G	867;867;867;877	ENSP00000361073:S867G;ENSP00000361066:S867G;ENSP00000361065:S877G	ENSP00000345671:S867G	S	+	1	0	NCOA3	45701245	0.301000	0.24444	0.046000	0.18839	0.101000	0.19017	0.839000	0.27586	0.059000	0.16252	-0.472000	0.04984	AGT		0.438	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		25	56	25	56	---	---	---	---	G	46267838	A	G	46267838	3	3	318	1	0	0	0	0	1	0	0	0	10230	72	3	2	2675	2	NCOA3	20	46267838	Missense_Mutation	SNP	A	TCGA-YL-A8SH-01B-11D-A377-08		46267838	16757682	26	11491										
THOC5	8563	broad.mit.edu	37	chr22	29904508	29904508	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcttcatcctgctaggacCcctagagaaataggagaacg	11	10	1	2			TCGA-YL-A8SH-01B-11D-A377-08	TCGA-YL-A8SH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	340cfd1e-1582-4ee4-99b3-49e6249c4fa2	521257bd-e4e2-4c76-8154-e87abb022203	g.chr22:29904508C>A	ENST00000490103.1	-	20	2112	c.1990G>T	c.(1990-1992)Ggt>Tgt	p.G664C	THOC5_ENST00000397871.1_Splice_Site_p.G664C|THOC5_ENST00000397872.1_Splice_Site_p.G664C|THOC5_ENST00000397873.2_Splice_Site_p.G664C	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	664					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						CTGCTAGGACCCCTAGAGAAA	0.458																																						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.(1990-1992)Ggt>Tgt		THO complex 5							86	78	81					22																	29904508		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.chr22:29904508C>A	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.1989-1G>T	22.37:g.29904508C>A			Somatic				THOC5_ENST00000397873.2_Splice_Site_p.G664C|THOC5_ENST00000397871.1_Splice_Site_p.G664C|THOC5_ENST00000397872.1_Splice_Site_p.G664C	p.G664C	NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			20	2112	-			664					O60839|Q9UPZ5	Splice_Site	SNP	ENST00000490103.1	37	c.1990G>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054326	0.93793	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55016	-0.8206	10	0.87932	D	0	-33.6037	19.9372	0.97144	0.0:1.0:0.0:0.0	.	664	Q13769	THOC5_HUMAN	C	664	ENSP00000420306:G664C;ENSP00000380970:G664C;ENSP00000380969:G664C;ENSP00000380971:G664C	ENSP00000380969:G664C	G	-	1	0	THOC5	28234508	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.317000	0.79018	2.810000	0.96702	0.655000	0.94253	GGT		0.458	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation	3	14	3	14	---	---	---	---	A	29904508	C	A	29904508	5	1	318	1	0	0	0	0	0	0	1	0	15865	637	22	1	65	1	THOC5	22	29904508	Splice_Site	SNP	C	TCGA-YL-A8SH-01B-11D-A377-08		29904508	21400058	27	11492										
OR11L1	391189	broad.mit.edu	37	chr1	248004453	248004453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatggtcccgtagtagagaGtgacaacagccaggtgggag	15	8	1	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:248004453G>C	ENST00000355784.2	-	1	801	c.746C>G	c.(745-747)aCt>aGt	p.T249S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	249						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)			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)			GTAGTAGAGAGTGACAACAGC	0.498																																						ENST00000355784.2																			0				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.(745-747)aCt>aGt		olfactory receptor, family 11, subfamily L, member 1							114	110	111					1																	248004453		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004453G>C	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.746C>G	1.37:g.248004453G>C	ENSP00000348033:p.Thr249Ser		Somatic					p.T249S	NM_001001959.1	NP_001001959.1	WXS	Illumina GAIIx	Phase_I	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	801	-	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)		249						Missense_Mutation	SNP	ENST00000355784.2	37	c.746C>G	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477376	0.01035	.	.	ENSG00000197591	ENST00000355784	T	0.38240	1.15	4.42	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31589	U	0.007387	T	0.17109	0.0411	N	0.12569	0.235	0.21719	N	0.999579	B	0.24618	0.107	B	0.28305	0.088	T	0.31392	-0.9945	10	0.05436	T	0.98	.	10.0658	0.42303	0.0:0.4162:0.4416:0.1422	.	249	Q8NGX0	O11L1_HUMAN	S	249	ENSP00000348033:T249S	ENSP00000348033:T249S	T	-	2	0	OR11L1	246071076	0.000000	0.05858	0.964000	0.40570	0.483000	0.33249	-0.061000	0.11693	0.565000	0.29255	-0.386000	0.06593	ACT		0.498	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		9	28	9	28	---	---	---	---	C	248004453	G	C	248004453	3	2	319	1	0	0	0	0	1	0	0	0	10930	1029	36	4	226	4	OR11L1	1	248004453	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		248004453	1246168	1	11493										
PLB1	151056	broad.mit.edu	37	chr2	28752252	28752252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgccacactggaaagagaGtcataccccacgatggtgct	11	11	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:28752252G>T	ENST00000327757.5	+	7	438	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	PLB1_ENST00000422425.2_Missense_Mutation_p.V132F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	132	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)					TGGAAAGAGAGTCATACCCCA	0.483																																						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.(394-396)Gtc>Ttc		phospholipase B1							223	200	208					2																	28752252		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.chr2:28752252G>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.394G>T	2.37:g.28752252G>T	ENSP00000330442:p.Val132Phe		Somatic				PLB1_ENST00000327757.5_Missense_Mutation_p.V132F	p.V132F	NM_001170585.1	NP_001164056.1	WXS	Illumina GAIIx	Phase_I	Q6P1J6	PLB1_HUMAN			7	438	+	Acute lymphoblastic leukemia(172;0.155)		132			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.394G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.570188|2.570188	0.45798|0.45798	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000416713;ENST00000327757;ENST00000422425	.|T;T;T	.|0.22743	.|1.94;2.67;2.65	5.58|5.58	-5.5|-5.5	0.02576|0.02576	.|.	.|2.471040	.|0.01379	.|N	.|0.012844	T|T	0.18257|0.18257	0.0438|0.0438	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P	.|0.36683	.|0.517;0.565	.|B;B	.|0.32864	.|0.154;0.101	T|T	0.33240|0.33240	-0.9876|-0.9876	5|10	.|0.72032	.|D	.|0.01	2.6794|2.6794	7.3361|7.3361	0.26611|0.26611	0.3652:0.437:0.1978:0.0|0.3652:0.437:0.1978:0.0	.|.	.|132;132	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	D|F	130|76;132;132	.|ENSP00000407076:V76F;ENSP00000330442:V132F;ENSP00000416440:V132F	.|ENSP00000330442:V132F	E|V	+|+	3|1	2|0	PLB1|PLB1	28605756|28605756	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.779000|-0.779000	0.04659|0.04659	-1.334000|-1.334000	0.02244|0.02244	-0.208000|-0.208000	0.12717|0.12717	GAG|GTC		0.483	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			8	53	8	53	---	---	---	---	T	28752252	G	T	28752252	3	4	319	1	0	0	0	0	1	0	0	0	12024	1029	36	3	420	3	PLB1	2	28752252	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		28752252	214447121	2	11494										
GHRL	51738	broad.mit.edu	37	chr3	10331494	10331494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcttgacctccatcttcCgggcggagccagcctgctag	11	15	2	1	rs113751742	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:10331494C>T	ENST00000335542.8	-	4	1047	c.177G>A	c.(175-177)ccG>ccA	p.P59P	GHRL_ENST00000449238.2_Silent_p.P46P|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000457360.1_Silent_p.P59P|GHRLOS_ENST00000439539.3_RNA|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000429122.1_Silent_p.P59P|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.P58P|GHRL_ENST00000449554.2_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	59					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|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 locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTCCATCTTCCGGGCGGAGCC	0.587													C|||	2	0.000399361	8e-04	0	5008	,	,		17449	0.001		0	False		,,,				2504	0					ENST00000335542.8																			0				breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(175-177)ccG>ccA		ghrelin/obestatin prepropeptide		C	,,,,	2,4404	4.2+/-10.8	0,2,2201	146	155	152		174,141,138,,177	-3.8	0	3	dbSNP_132	152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GHRL	NM_001134941.1,NM_001134944.1,NM_001134945.1,NM_001134946.1,NM_016362.3	,,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,	58/117,47/106,46/105,,59/118	10331494	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|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 circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331494C>T	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.177G>A	3.37:g.10331494C>T			Somatic				GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000429122.1_Silent_p.P59P	p.P59P			WXS	Illumina GAIIx	Phase_I	Q9UBU3	GHRL_HUMAN			4	1047	-			59					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.177G>A	CCDS33700.1																																																																																				0.587	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		5	130	5	130	---	---	---	---	T	10331494	C	T	10331494	2	4	319	1	0	0	0	0	0	0	0	1	6374	639	23	2		2	GHRL	3	10331494	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		10331494	187690936	3	11495										
SI	6476	broad.mit.edu	37	chr3	164714349	164714349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atttgcaatgttgtgattccTtgagtatggataaaatgctc	9	5	0	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:164714349T>C	ENST00000264382.3	-	40	4728	c.4666A>G	c.(4666-4668)Agg>Ggg	p.R1556G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	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)	TTGTGATTCCTTGAGTATGGA	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.(4666-4668)Agg>Ggg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						86	84	85					3																	164714349		2202	4297	6499	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.chr3:164714349T>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.4666A>G	3.37:g.164714349T>C	ENSP00000264382:p.Arg1556Gly	HNSCC(35;0.089)	Somatic					p.R1556G	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			40	4728	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1556			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4666A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.903715	0.52333	.	.	ENSG00000090402	ENST00000264382	D	0.95307	-3.67	4.69	3.49	0.39957	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.98487	4.245	0.46954	D	0.999261	D	0.89917	1.0	D	0.97110	1.0	D	0.97869	1.0285	10	0.87932	D	0	.	10.9061	0.47081	0.0:0.0:0.2982:0.7018	.	1556	P14410	SUIS_HUMAN	G	1556	ENSP00000264382:R1556G	ENSP00000264382:R1556G	R	-	1	2	SI	166197043	1.000000	0.71417	0.970000	0.41538	0.769000	0.43574	3.046000	0.49846	0.894000	0.36317	0.477000	0.44152	AGG		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		54	146	54	146	---	---	---	---	C	164714349	T	C	164714349	3	2	319	1	0	0	0	0	1	0	0	0	14297	1608	56	2	853	2	SI	3	164714349	Missense_Mutation	SNP	T	TCGA-YL-A8SJ-01B-11D-A377-08	154382855	164714349	33308081	4	11496										
WDFY3	23001	broad.mit.edu	37	chr4	85656271	85656271	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaaacatccactgcgaaatCtcctaacaatggatggaaaa	7	9	1	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr4:85656271C>A	ENST00000295888.4	-	43	7325	c.6918G>T	c.(6916-6918)gaG>gaT	p.E2306D	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2306D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2306	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)		ACTGCGAAATCTCCTAACAAT	0.299																																						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.(6916-6918)gaG>gaT		WD repeat and FYVE domain containing 3							105	101	102					4																	85656271		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85656271C>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.6918G>T	4.37:g.85656271C>A	ENSP00000295888:p.Glu2306Asp		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D	p.E2306D			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	43	7325	-		Hepatocellular(203;0.114)	2306					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6918G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911740	0.33721	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63913	-0.07;-0.0	5.5	4.67	0.58626	.	0.047781	0.85682	D	0.000000	T	0.39627	0.1085	N	0.25286	0.73	0.58432	D	0.999999	B	0.33000	0.393	B	0.26770	0.073	T	0.23547	-1.0185	10	0.11182	T	0.66	.	8.3787	0.32457	0.0:0.7595:0.0:0.2405	.	2306	Q8IZQ1	WDFY3_HUMAN	D	2306	ENSP00000318466:E2306D;ENSP00000295888:E2306D	ENSP00000295888:E2306D	E	-	3	2	WDFY3	85875295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.949000	0.29109	1.557000	0.49525	0.655000	0.94253	GAG		0.299	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	38	18	38	---	---	---	---	A	85656271	C	A	85656271	3	1	319	1	0	0	0	0	1	0	0	0	17267	912	32	3	3766	3	WDFY3	4	85656271	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		85656271	105498005	5	11497										
GRM1	2911	broad.mit.edu	37	chr6	146755853	146755853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagctcccccgtgtccgagtCggtgctctgcacccctccca	9	20	1	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:146755853C>T	ENST00000282753.1	+	8	3741	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.S1169L|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1169	Ser-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)		GTGTCCGAGTCGGTGCTCTGC	0.627																																						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.(3505-3507)tCg>tTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						41	43	42					6																	146755853		2201	4299	6500	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755853C>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.3506C>T	6.37:g.146755853C>T	ENSP00000282753:p.Ser1169Leu		Somatic				GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000492807.2_3'UTR	p.S1169L	NM_001278064.1	NP_001264993.1	WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3976	+		Ovarian(120;0.0387)	1169			Ser-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3506C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615640	0.87359	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90197	-2.63;-2.63	5.63	5.63	0.86233	Metabotropic glutamate receptor, Homer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90539	0.7035	L	0.49350	1.555	0.80722	D	1	D	0.57257	0.979	P	0.51999	0.687	D	0.90633	0.4568	10	0.56958	D	0.05	.	19.6648	0.95889	0.0:1.0:0.0:0.0	.	1169	Q13255	GRM1_HUMAN	L	1169	ENSP00000354896:S1169L;ENSP00000282753:S1169L	ENSP00000282753:S1169L	S	+	2	0	GRM1	146797546	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.651000	0.90000	0.655000	0.94253	TCG		0.627	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		16	34	16	34	---	---	---	---	T	146755853	C	T	146755853	3	4	319	1	0	0	0	0	1	0	0	0	6796	893	31	2	3601	2	GRM1	6	146755853	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		146755853	24359214	6	11498										
CLDN20	49861	broad.mit.edu	37	chr6	155597385	155597385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caatgctgttgtttatctctGgcatgattttctgcacctcc	7	11	2	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:155597385G>A	ENST00000367165.3	+	2	912	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	178					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)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTTTATCTCTGGCATGATTTT	0.438																																						ENST00000367165.3																			0				endometrium(1)|lung(2)	3						c.(532-534)Ggc>Agc		claudin 20							75	69	71					6																	155597385		2203	4300	6503	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597385G>A	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"Claudins"	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.532G>A	6.37:g.155597385G>A	ENSP00000356133:p.Gly178Ser		Somatic				TFB1M_ENST00000367166.4_Intron	p.G178S	NM_001001346.3	NP_001001346.1	WXS	Illumina GAIIx	Phase_I	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	912	+			178						Missense_Mutation	SNP	ENST00000367165.3	37	c.532G>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417706	0.83449	.	.	ENSG00000171217	ENST00000367165	D	0.98684	-5.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99524	0.9830	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98340	1.0538	10	0.87932	D	0	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	178	P56880	CLD20_HUMAN	S	178	ENSP00000356133:G178S	ENSP00000356133:G178S	G	+	1	0	CLDN20	155639077	1.000000	0.71417	0.887000	0.34795	0.322000	0.28314	7.660000	0.83776	2.697000	0.92050	0.563000	0.77884	GGC		0.438	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		18	58	18	58	---	---	---	---	A	155597385	G	A	155597385	3	1	319	1	0	0	0	0	1	0	0	0	3482	1348	47	2	534	2	CLDN20	6	155597385	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	8841532	155597385	15517682	7	11499										
NPTX2	4885	broad.mit.edu	37	chr7	98257788	98257788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttcaacatatgggaccgCgtccttcgcgcacaagaaat	9	12	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr7:98257788C>T	ENST00000265634.3	+	5	1308	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	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)			TATGGGACCGCGTCCTTCGCG	0.557																																						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.(1141-1143)cgC>cgT		neuronal pentraxin II							96	75	82					7																	98257788		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257788C>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.1143C>T	7.37:g.98257788C>T			Somatic					p.R381R	NM_002523.2	NP_002514.1	WXS	Illumina GAIIx	Phase_I	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1308	+	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)		381			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1143C>T	CCDS5657.1																																																																																				0.557	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	8	4	8	---	---	---	---	T	98257788	C	T	98257788	2	4	319	1	0	0	0	0	0	0	0	1	10603	755	27	2		2	NPTX2	7	98257788	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		98257788	60880875	8	11500										
NRAP	4892	broad.mit.edu	37	chr10	115364399	115364399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcatgggctttcttggccCaggccatcttcaggtcctcg	13	13	3	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:115364399C>T	ENST00000359988.3	-	35	4440	c.4196G>A	c.(4195-4197)tGg>tAg	p.W1399*	NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*|NRAP_ENST00000369358.4_Nonsense_Mutation_p.W1407*	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)		TTTCTTGGCCCAGGCCATCTT	0.582																																						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.(4219-4221)tGg>tAg		nebulin-related anchoring protein							90	84	86					10																	115364399		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115364399C>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.4196G>A	10.37:g.115364399C>T	ENSP00000353078:p.Trp1399*		Somatic				NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*	p.W1407*			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	35	4464	-		Colorectal(252;0.0233)|Breast(234;0.188)	1399						Nonsense_Mutation	SNP	ENST00000359988.3	37	c.4220G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.951241	0.99014	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.54	5.54	0.83059	.	0.059875	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.4903	0.95047	0.0:1.0:0.0:0.0	.	.	.	.	X	1407;1372;1399;1364;557	.	ENSP00000353078:W1399X	W	-	2	0	NRAP	115354389	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	4.970000	0.63742	2.622000	0.88805	0.555000	0.69702	TGG		0.582	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		15	20	15	20	---	---	---	---	T	115364399	C	T	115364399	4	4	319	1	0	0	0	0	0	1	0	0	10638	595	21	2	1028	2	NRAP	10	115364399	Nonsense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		115364399	20170348	9	11501										
NKX6-2	84504	broad.mit.edu	37	chr10	134598510	134598510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagccgcgtgatcttctcGtcgtccgagttggggtccag	14	12	2	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:134598510G>A	ENST00000368592.5	-	3	847	c.744C>T	c.(742-744)gaC>gaT	p.D248D	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	248					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|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)|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)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGATCTTCTCGTCGTCCGAGT	0.672																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(742-744)gaC>gaT		NK6 homeobox 2							95	71	79					10																	134598510		2199	4299	6498	SO:0001819	synonymous_variant	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598510G>A	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"Homeoboxes / ANTP class : NKL subclass"	19321	protein-coding gene	gene with protein product		605955	"NK6 transcription factor related, locus 2 (Drosophila)"			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.744C>T	10.37:g.134598510G>A			Somatic					p.D248D	NM_177400.2	NP_796374	WXS	Illumina GAIIx	Phase_I	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	847	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	248					Q5JSF3	Silent	SNP	ENST00000368592.5	37	c.744C>T	CCDS7670.1																																																																																				0.672	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			3	24	3	24	---	---	---	---	A	134598510	G	A	134598510	2	1	319	1	0	0	0	0	0	0	0	1	10458	1136	40	2		2	NKX6-2	10	134598510	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	19234111	134598510	936237	10	11502										
ODZ4	26011	broad.mit.edu	37	chr11	78380123	78380123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtccagcgtccggccagcaCatcataatctcgccggccca	9	17	2	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:78380123C>A	ENST00000278550.7	-	32	7729	c.7267G>T	c.(7267-7269)Gtg>Ttg	p.V2423L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2423					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)										CCGGCCAGCACATCATAATCT	0.498																																						ENST00000278550.7																			0											c.(7267-7269)Gtg>Ttg		teneurin transmembrane protein 4							80	81	80					11																	78380123		2047	4176	6223	SO:0001583	missense	26011							g.chr11:78380123C>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.7267G>T	11.37:g.78380123C>A	ENSP00000278550:p.Val2423Leu		Somatic					p.V2423L	NM_001098816.2	NP_001092286.2	WXS	Illumina GAIIx	Phase_I					32	7729	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7267G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060133	0.76074	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89617	-2.54;0.95	5.67	4.75	0.60458	Rhs repeat-associated core (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.65498	2.005	0.58432	D	0.999997	D	0.64830	0.994	D	0.70716	0.97	D	0.92020	0.5625	9	.	.	.	.	14.0324	0.64624	0.0:0.9283:0.0:0.0717	.	2423	Q6N022	TEN4_HUMAN	L	2423;887	ENSP00000278550:V2423L;ENSP00000431711:V887L	.	V	-	1	0	ODZ4	78057771	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.073000	0.57570	2.677000	0.91161	0.655000	0.94253	GTG		0.498	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			8	19	8	19	---	---	---	---	A	78380123	C	A	78380123	3	1	319	1	0	0	0	0	1	0	0	0	10837	478	17	3	1054	3	ODZ4	11	78380123	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		78380123	56626393	11	11503										
ITPR2	3709	broad.mit.edu	37	chr12	26596569	26596569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatctgctgcaacagtttAttgtggcgggccaactagag	12	9	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:26596569A>C	ENST00000381340.3	-	46	6773	c.6357T>G	c.(6355-6357)aaT>aaG	p.N2119K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2119					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)	GCAACAGTTTATTGTGGCGGG	0.423																																						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.(6355-6357)aaT>aaG		inositol 1,4,5-trisphosphate receptor, type 2							135	127	129					12																	26596569		1885	4118	6003	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.chr12:26596569A>C	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.6357T>G	12.37:g.26596569A>C	ENSP00000370744:p.Asn2119Lys		Somatic					p.N2119K	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			46	6773	-	Colorectal(261;0.0847)		2119					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6357T>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323202	0.60634	.	.	ENSG00000123104	ENST00000381340	D	0.93307	-3.2	4.87	-3.24	0.05094	.	0.050146	0.85682	D	0.000000	D	0.94729	0.8299	M	0.89904	3.07	0.80722	D	1	P	0.45474	0.859	P	0.48770	0.589	D	0.93809	0.7108	10	0.87932	D	0	.	14.7015	0.69160	0.2693:0.0:0.7307:0.0	.	2119	Q14571	ITPR2_HUMAN	K	2119	ENSP00000370744:N2119K	ENSP00000370744:N2119K	N	-	3	2	ITPR2	26487836	0.989000	0.36119	0.747000	0.31113	0.743000	0.42351	0.344000	0.19962	-0.620000	0.05641	-0.408000	0.06270	AAT		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		13	24	13	24	---	---	---	---	C	26596569	A	C	26596569	3	2	319	1	0	0	0	0	1	0	0	0	7921	446	16	5	1796	5	ITPR2	12	26596569	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08		26596569	107255326	12	11504										
C12orf42	374470	broad.mit.edu	37	chr12	103700092	103700092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtatgaagtagtcttttacaCgccattgaattttgagtcct	8	7	1	3			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:103700092C>T	ENST00000378113.2	-	5	516	c.291G>A	c.(289-291)gcG>gcA	p.A97A	C12orf42_ENST00000548048.1_Silent_p.A30A|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	97								p.A97A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTCTTTTACACGCCATTGAAT	0.378																																						ENST00000548048.1																			1	Substitution - coding silent(1)	p.A97A(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(88-90)gcG>gcA		chromosome 12 open reading frame 42							48	48	48					12																	103700092		1828	4092	5920	SO:0001819	synonymous_variant	374470							g.chr12:103700092C>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.291G>A	12.37:g.103700092C>T			Somatic				C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000548789.1_5'UTR	p.A30A			WXS	Illumina GAIIx	Phase_I	Q96LP6	CL042_HUMAN			8	586	-			97					Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	c.90G>A	CCDS44963.1																																																																																				0.378	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		3	17	3	17	---	---	---	---	T	103700092	C	T	103700092	2	4	319	1	0	0	0	0	0	0	0	1	1688	523	19	2		2	C12orf42	12	103700092	Silent	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08	77103523	103700092	30151803	13	11505										
FRMD5	84978	broad.mit.edu	37	chr15	44166604	44166604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgaggcaggaaggtgtcccCatgggaagtggaacgcactg	17	8	0	1	rs372366104		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:44166604C>T	ENST00000417257.1	-	14	1368	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R|FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	398						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGTGTCCCCATGGGAAGTG	0.562																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1192-1194)Ggg>Agg		FERM domain containing 5							71	66	68					15																	44166604		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44166604C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1192G>A	15.37:g.44166604C>T	ENSP00000403067:p.Gly398Arg		Somatic				FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R	p.G398R	NM_032892.3	NP_116281.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	14	1368	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	398					Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.1192G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216213	0.39201	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.84944	-1.71;-1.85;-1.92	5.87	4.78	0.61160	.	0.238047	0.42821	D	0.000656	T	0.77698	0.4169	L	0.44542	1.39	0.41871	D	0.990278	B;B;B;B	0.33919	0.432;0.148;0.407;0.27	B;B;B;B	0.33521	0.165;0.08;0.088;0.143	T	0.72253	-0.4347	10	0.17369	T	0.5	.	10.9522	0.47336	0.0:0.8426:0.0:0.1574	.	383;398;398;71	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	R	398;398;364	ENSP00000403067:G398R;ENSP00000384142:G398R;ENSP00000399684:G364R	ENSP00000384142:G398R	G	-	1	0	FRMD5	41953896	0.993000	0.37304	0.998000	0.56505	0.996000	0.88848	2.997000	0.49457	2.780000	0.95670	0.655000	0.94253	GGG		0.562	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		10	38	10	38	---	---	---	---	T	44166604	C	T	44166604	3	4	319	1	0	0	0	0	1	0	0	0	6053	594	21	2	524	2	FRMD5	15	44166604	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		44166604	58364788	14	11506										
SRCAP	10847	broad.mit.edu	37	chr16	30732587	30732587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtccctaaagccaacaccaCctgccccagttcgcctgagc	7	18	0	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr16:30732587C>T	ENST00000262518.4	+	21	3716	c.3331C>T	c.(3331-3333)Cct>Tct	p.P1111S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1111	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)			GCCAACACCACCTGCCCCAGT	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.(3331-3333)Cct>Tct		Snf2-related CREBBP activator protein							115	122	120					16																	30732587		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.chr16:30732587C>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.3331C>T	16.37:g.30732587C>T	ENSP00000262518:p.Pro1111Ser		Somatic				SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	p.P1111S	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3716	+			1111			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3331C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027531	0.35797	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91740	-2.9;-2.74	5.36	5.36	0.76844	.	.	.	.	.	D	0.86514	0.5951	N	0.14661	0.345	0.80722	D	1	P;P	0.45715	0.865;0.787	B;B	0.43478	0.421;0.241	D	0.86680	0.1916	9	0.37606	T	0.19	-9.5073	16.1243	0.81382	0.0:1.0:0.0:0.0	.	1111;1111	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	1111	ENSP00000262518:P1111S;ENSP00000378499:P1111S	ENSP00000262518:P1111S	P	+	1	0	SRCAP	30640088	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.886000	0.63149	2.788000	0.95919	0.557000	0.71058	CCT		0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	54	22	54	---	---	---	---	T	30732587	C	T	30732587	3	4	319	1	0	0	0	0	1	0	0	0	15134	507	18	2	3405	2	SRCAP	16	30732587	Missense_Mutation	SNP	C	TCGA-YL-A8SJ-01B-11D-A377-08		30732587	59622166	15	11507										
TP53	7157	broad.mit.edu	37	chr17	7578435	7578436	+	Frame_Shift_Ins	INS	-	-	AGCA													0	0	1	0	0	0	1	1	0	cctccgtcatgtgctgtgacINStgcttgtagatggccatggc							TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7578435_7578436insAGCA	ENST00000269305.4	-	5	683_684	c.494_495insTGCT	c.(493-495)cagfs	p.Q165fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'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	165	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(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)	TGTGCTGTGACTGCTTGTAGAT	0.629		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"		33	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(1)	haematopoietic_and_lymphoid_tissue(5)|stomach(4)|breast(4)|oesophagus(4)|bone(4)|central_nervous_system(3)|lung(3)|upper_aerodigestive_tract(1)|cervix(1)|large_intestine(1)|soft_tissue(1)|salivary_gland(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.(493-495)cagfs	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.chr17:7578435_7578436insAGCA	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.494_495insTGCT	17.37:g.7578435_7578436insAGCA	ENSP00000269305:p.Gln165fs	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)	Somatic				TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs	p.Q165fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	626_627	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	165		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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_Ins	INS	ENST00000269305.4	37	c.494_495insTGCT	CCDS11118.1																																																																																				0.629	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	46	16	46	---	---	---	---	AGCA	7578436	-	AGCA	7578435	7	5	319	1	0	1	1	0	0	0	0	0	16378	564	20	0	803	0	TP53	17	7578435	Frame_Shift_Ins	INS	-	TCGA-YL-A8SJ-01B-11D-A377-08		7578435	73616775	16	11508										
ALOX12B	242	broad.mit.edu	37	chr17	7983166	7983166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacggggaacttgtctgggAtccgcgtgcagcggcggatc	17	10	1	1			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7983166A>T	ENST00000319144.4	-	7	1108	c.848T>A	c.(847-849)aTc>aAc	p.I283N	AC129492.6_ENST00000399413.3_5'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	283	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTTGTCTGGGATCCGCGTGCA	0.657										Multiple Myeloma(8;0.094)																												ENST00000319144.4																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(847-849)aTc>aAc		arachidonate 12-lipoxygenase, 12R type							36	35	35					17																	7983166		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7983166A>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.848T>A	17.37:g.7983166A>T	ENSP00000315167:p.Ile283Asn	Multiple Myeloma(8;0.094)	Somatic				AC129492.6_ENST00000399413.3_5'UTR	p.I283N	NM_001139.2	NP_001130.1	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			7	1108	-			283			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.848T>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857536	0.91433	.	.	ENSG00000179477	ENST00000319144	T	0.77098	-1.07	4.25	4.25	0.50352	Lipoxygenase, C-terminal (3);	0.364262	0.28653	N	0.014589	D	0.85613	0.5737	M	0.70595	2.14	0.43863	D	0.996464	P	0.52842	0.956	D	0.65573	0.936	D	0.87273	0.2287	10	0.87932	D	0	-13.6646	12.7906	0.57530	1.0:0.0:0.0:0.0	.	283	O75342	LX12B_HUMAN	N	283	ENSP00000315167:I283N	ENSP00000315167:I283N	I	-	2	0	ALOX12B	7923891	0.998000	0.40836	0.917000	0.36280	0.994000	0.84299	8.879000	0.92398	1.931000	0.55961	0.454000	0.30748	ATC		0.657	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	11	5	11	---	---	---	---	T	7983166	A	T	7983166	3	4	319	1	0	0	0	0	1	0	0	0	537	333	12	5	1293	5	ALOX12B	17	7983166	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08	404731	7983166	73212044	17	11509										
SMCR8	140775	broad.mit.edu	37	chr17	18219934	18219934	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggagcacatccaggatcaGgccagccaggcatccactac	10	14	1	0			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:18219934G>A	ENST00000406438.3	+	1	1311	c.831G>A	c.(829-831)caG>caA	p.Q277Q	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	277						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						TCCAGGATCAGGCCAGCCAGG	0.512																																						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.(829-831)caG>caA		Smith-Magenis syndrome chromosome region, candidate 8							77	63	68					17																	18219934		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219934G>A	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.831G>A	17.37:g.18219934G>A			Somatic					p.Q277Q	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	1311	+			277					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.831G>A	CCDS11195.2																																																																																				0.512	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		7	27	7	27	---	---	---	---	A	18219934	G	A	18219934	2	1	319	1	0	0	0	0	0	0	0	1	14792	991	35	2		2	SMCR8	17	18219934	Silent	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08	10236768	18219934	62975276	18	11510										
KIAA1468	57614	broad.mit.edu	37	chr18	59894681	59894681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagaggcccttacaccaattAtaagcaaccttcctccaact	4	14	0	1	rs369238556		TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:59894681A>G	ENST00000398130.2	+	6	1250	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.I340V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	340										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TACACCAATTATAAGCAACCT	0.403													A|||	1	0.000199681	8e-04	0	5008	,	,		14909	0		0	False		,,,				2504	0					ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1018-1020)Ata>Gta		KIAA1468		A	VAL/ILE	1,4143		0,1,2071	106	110	109		1018	-1.4	0.8	18		109	1,8453		0,1,4226	no	missense	KIAA1468	NM_020854.3	29	0,2,6297	GG,GA,AA		0.0118,0.0241,0.0159	benign	340/1217	59894681	2,12596	2072	4227	6299	SO:0001583	missense	57614						binding	g.chr18:59894681A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1018A>G	18.37:g.59894681A>G	ENSP00000381198:p.Ile340Val		Somatic				KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V	p.I340V			WXS	Illumina GAIIx	Phase_I	Q9P260	K1468_HUMAN			6	1266	+		Colorectal(73;0.186)	340						Missense_Mutation	SNP	ENST00000398130.2	37	c.1018A>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	0.234	-1.018771	0.02078	2.41E-4	1.18E-4	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.35	-1.38	0.09027	.	0.688458	0.13242	N	0.402796	T	0.11410	0.0278	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.001;0.01	T	0.23655	-1.0182	8	.	.	.	-0.0028	1.5889	0.02650	0.1434:0.3321:0.1361:0.3884	.	340;340	Q9P260-2;Q9P260	.;K1468_HUMAN	V	340	.	.	I	+	1	0	KIAA1468	58045661	0.013000	0.17824	0.833000	0.33012	0.815000	0.46073	0.126000	0.15769	-0.221000	0.09973	-0.646000	0.03943	ATA		0.403	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		10	77	10	77	---	---	---	---	G	59894681	A	G	59894681	3	3	319	1	0	0	0	0	1	0	0	0	8236	449	16	2	1040	2	KIAA1468	18	59894681	Missense_Mutation	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08		59894681	18182567	19	11511										
RBM12	10137	broad.mit.edu	37	chr20	34240454	34240454	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgtgaatggctaccctaAtacaagttttacttttcttg	7	7	1	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:34240454A>G	ENST00000374114.3	-	3	3054	c.2791T>C	c.(2791-2793)Tta>Cta	p.L931L	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|CPNE1_ENST00000352393.4_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	931	RRM 3. {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)			GGCTACCCTAATACAAGTTTT	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.(2791-2793)Tta>Cta		RNA binding motif protein 12							84	83	83					20																	34240454		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240454A>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.2791T>C	20.37:g.34240454A>G			Somatic				CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron	p.L931L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina GAIIx	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	3054	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		931			RRM 3.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2791T>C	CCDS13261.1																																																																																				0.403	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		11	77	11	77	---	---	---	---	G	34240454	A	G	34240454	2	3	319	1	0	0	0	0	0	0	0	1	13113	98	4	2		2	RBM12	20	34240454	Silent	SNP	A	TCGA-YL-A8SJ-01B-11D-A377-08		34240454	28785066	20	11512										
MOV10L1	54456	broad.mit.edu	37	chr22	50581567	50581567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagttaaaaggattctgagtGgtgactgccgtcccctcccg	11	12	1	2			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr22:50581567G>T	ENST00000262794.5	+	17	2358	c.2275G>T	c.(2275-2277)Ggt>Tgt	p.G759C	MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	759					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)		GATTCTGAGTGGTGACTGCCG	0.443																																						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.(2275-2277)Ggt>Tgt		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							136	141	139					22																	50581567		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581567G>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.2275G>T	22.37:g.50581567G>T	ENSP00000262794:p.Gly759Cys		Somatic				MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C	p.G759C	NM_018995.2	NP_061868.1	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2358	+		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)	759					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2275G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580130	0.65992	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.20401	0.57	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	D	0.87538	0.2457	10	0.59425	D	0.04	-36.8932	19.6476	0.95789	0.0:0.0:1.0:0.0	.	520;739;759;759	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	C	759;759;759;739	ENSP00000438978:G759C;ENSP00000262794:G759C;ENSP00000379199:G759C;ENSP00000438542:G739C	ENSP00000262794:G759C	G	+	1	0	MOV10L1	48923694	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	9.191000	0.94940	2.647000	0.89833	0.655000	0.94253	GGT		0.443	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		6	122	6	122	---	---	---	---	T	50581567	G	T	50581567	3	4	319	1	0	0	0	0	1	0	0	0	9719	1348	47	1	2382	1	MOV10L1	22	50581567	Missense_Mutation	SNP	G	TCGA-YL-A8SJ-01B-11D-A377-08		50581567	722999	21	11513										
SCMH1	22955	broad.mit.edu	37	chr1	41503177	41503177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	agtctgagtgtggttccaagGagcgggccagactattcccc	13	11	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:41503177G>A	ENST00000326197.7	-	12	1804	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000472037.1_5'Flank|SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000402904.2_Missense_Mutation_p.S502F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F					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)				TGGTTCCAAGGAGCGGGCCAG	0.532																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1504-1506)tCc>tTc		sex comb on midleg homolog 1 (Drosophila)							199	184	189					1																	41503177		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.chr1:41503177G>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.1505C>T	1.37:g.41503177G>A	ENSP00000318094:p.Ser502Phe		Somatic				SCMH1_ENST00000372596.1_Missense_Mutation_p.S441F|SCMH1_ENST00000361705.3_Missense_Mutation_p.S455F|SCMH1_ENST00000397174.2_Missense_Mutation_p.S482F|SCMH1_ENST00000372597.1_Missense_Mutation_p.S455F|SCMH1_ENST00000326197.7_Missense_Mutation_p.S502F|SCMH1_ENST00000456518.2_Missense_Mutation_p.S344F|SCMH1_ENST00000361191.5_Missense_Mutation_p.S441F|SCMH1_ENST00000397171.2_Missense_Mutation_p.S441F|SCMH1_ENST00000337495.5_Missense_Mutation_p.S512F|SCMH1_ENST00000372595.1_Missense_Mutation_p.S441F	p.S502F	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			13	1873	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	502						Missense_Mutation	SNP	ENST00000326197.7	37	c.1505C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433792	0.62955	.	.	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	2.15;1.79;2.22;2.12;2.13;2.13;2.15;2.13;2.12;2.22;2.22	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.25606	0.0623	L	0.27053	0.805	0.42916	D	0.994278	P;P;P;P	0.48016	0.894;0.828;0.904;0.836	B;B;P;B	0.47981	0.367;0.299;0.563;0.326	T	0.02713	-1.1120	10	0.59425	D	0.04	.	14.5889	0.68347	0.0:0.0:1.0:0.0	.	344;512;455;502	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	F	455;344;502;482;441;441;455;441;512;441;502	ENSP00000354996:S455F;ENSP00000403974:S344F;ENSP00000386079:S502F;ENSP00000380359:S482F;ENSP00000380356:S441F;ENSP00000354656:S441F;ENSP00000361678:S455F;ENSP00000361677:S441F;ENSP00000337352:S512F;ENSP00000361676:S441F;ENSP00000318094:S502F	ENSP00000318094:S502F	S	-	2	0	SCMH1	41275764	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.655000	0.67981	2.674000	0.91012	0.655000	0.94253	TCC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			24	80	24	80	---	---	---	---	A	41503177	G	A	41503177	3	1	320	1	0	0	0	0	1	0	0	0	13908	1174	41	2	493	2	SCMH1	1	41503177	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		41503177	207747444	1	11514										
S100A8	6279	broad.mit.edu	37	chr1	153362588	153362588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	cagtaactcagctactctttGtggctttcttcatggctttt	7	10	4	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr1:153362588G>T	ENST00000368733.3	-	3	442	c.273C>A	c.(271-273)caC>caA	p.H91Q	S100A8_ENST00000477801.1_5'Flank|S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	91				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). {ECO:0000305}.	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)			GCTACTCTTTGTGGCTTTCTT	0.468																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(271-273)caC>caA		S100 calcium binding protein A8							109	111	111					1																	153362588		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362588G>T	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.273C>A	1.37:g.153362588G>T	ENSP00000357722:p.His91Gln		Somatic				S100A8_ENST00000368732.1_Missense_Mutation_p.H91Q	p.H91Q	NM_002964.4	NP_002955.2	WXS	Illumina GAIIx	Phase_I	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	442	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91	VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).				A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.273C>A	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	G	3.559	-0.090004	0.07053	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.05319	3.46;3.46	4.52	4.52	0.55395	EF-hand-like domain (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.20307	N	0.999919	P	0.34662	0.462	B	0.36534	0.227	T	0.46679	-0.9174	8	0.16896	T	0.51	.	13.0476	0.58935	0.0:0.0:1.0:0.0	.	91	P05109	S10A8_HUMAN	Q	91	ENSP00000357722:H91Q;ENSP00000357721:H91Q	ENSP00000357721:H91Q	H	-	3	2	S100A8	151629212	0.746000	0.28272	0.420000	0.26596	0.170000	0.22686	3.817000	0.55668	2.798000	0.96311	0.650000	0.86243	CAC		0.468	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		18	88	18	88	---	---	---	---	T	153362588	G	T	153362588	3	4	320	1	0	0	0	0	1	0	0	0	13786	1368	48	3	12	3	S100A8	1	153362588	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	111859411	153362588	95888033	2	11515										
RANBP2	5903	broad.mit.edu	37	chr2	109365442	109365442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	agagattgttgaaacttttgCcaacaaaagcgggcagtctg	11	7	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109365442C>T	ENST00000283195.6	+	9	1256	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	377					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						GAAACTTTTGCCAACAAAAGC	0.348																																						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.(1129-1131)gCc>gTc		RAN binding protein 2							200	215	210					2																	109365442		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.chr2:109365442C>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.1130C>T	2.37:g.109365442C>T	ENSP00000283195:p.Ala377Val		Somatic					p.A377V	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			9	1256	+			377					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1130C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423130	0.62733	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.33216	1.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.54919	0.1888	L	0.60455	1.87	0.37478	D	0.915879	D	0.76494	0.999	D	0.80764	0.994	T	0.59172	-0.7504	9	0.87932	D	0	-10.3724	19.8143	0.96560	0.0:1.0:0.0:0.0	.	377	P49792	RBP2_HUMAN	V	377	ENSP00000283195:A377V	ENSP00000283195:A377V	A	+	2	0	RANBP2	108731874	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	4.255000	0.58804	2.747000	0.94245	0.650000	0.86243	GCC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		5	301	5	301	---	---	---	---	T	109365442	C	T	109365442	3	4	320	1	0	0	0	0	1	0	0	0	13028	739	26	2	1164	2	RANBP2	2	109365442	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		109365442	133833931	3	11516										
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-													0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gaagaatggccgtggtgtgaTttttggccaaacaagtagca							TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					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						CGTGGTGTGATTTTTGGCCAA	0.413																																						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.(5809-5811)attfs		RAN binding protein 2							93	111	105					2																	109382805		2195	4282	6477	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.chr2:109382805delT	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.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs		Somatic					p.I1937fs	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	539	7	539	---	---	---	---	-	109382805	T	-	109382805	7	5	320	1	0	1	0	1	0	0	0	0	13028	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-YL-A8SK-01B-21D-A377-08	17363	109382805	133816568	4	11517										
CNTNAP5	129684	broad.mit.edu	37	chr2	125547510	125547510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tccagacagaaaggcttcctAggatgcattcgctccttaca	8	12	0	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:125547510A>G	ENST00000431078.1	+	18	3145	c.2781A>G	c.(2779-2781)ctA>ctG	p.L927L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	927	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)		AAGGCTTCCTAGGATGCATTC	0.463																																						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.(2779-2781)ctA>ctG		contactin associated protein-like 5							55	54	54					2																	125547510		1988	4173	6161	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547510A>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.2781A>G	2.37:g.125547510A>G			Somatic					p.L927L	NM_130773.2	NP_570129.1	WXS	Illumina GAIIx	Phase_I	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3145	+			927			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2781A>G	CCDS46401.1																																																																																				0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	34	11	34	---	---	---	---	G	125547510	A	G	125547510	2	3	320	1	0	0	0	0	0	0	0	1	3650	407	15	2		2	CNTNAP5	2	125547510	Silent	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	16164705	125547510	117651863	5	11518										
PROC	5624	broad.mit.edu	37	chr2	128186333	128186333	+	Frame_Shift_Del	DEL	G	G	-													0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gaccggcaggatgcctgcgaGggcgacagtggggggcccat							TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128186333delG	ENST00000234071.3	+	9	1284	c.1197delG	c.(1195-1197)gagfs	p.E399fs	PROC_ENST00000453608.2_Frame_Shift_Del_p.E454fs|PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	399	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)	ATGCCTGCGAGGGCGACAGTG	0.652																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1360-1362)gagfs		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						58	66	63					2																	128186333		2203	4300	6503	SO:0001589	frameshift_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.chr2:128186333delG	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.1197delG	2.37:g.128186333delG	ENSP00000234071:p.Glu399fs		Somatic				PROC_ENST00000422777.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000234071.3_Frame_Shift_Del_p.E399fs|PROC_ENST00000409048.1_Frame_Shift_Del_p.E433fs	p.E454fs			WXS	Illumina GAIIx	Phase_I	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1370	+	Colorectal(110;0.1)		399					B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Frame_Shift_Del	DEL	ENST00000234071.3	37	c.1362delG	CCDS2145.1																																																																																				0.652	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		18	99	18	99	---	---	---	---	-	128186333	G	-	128186333	7	5	320	1	0	1	0	1	0	0	0	0	12545	991	35	0	1227	0	PROC	2	128186333	Frame_Shift_Del	DEL	G	TCGA-YL-A8SK-01B-21D-A377-08	2638823	128186333	115013040	6	11519										
UGGT1	56886	broad.mit.edu	37	chr2	128917179	128917179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gatctccagagcaatctgggCagctctccaaactcagactt	8	13	4	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr2:128917179C>T	ENST00000259253.6	+	23	2494	c.2447C>T	c.(2446-2448)gCa>gTa	p.A816V	UGGT1_ENST00000375990.3_Missense_Mutation_p.A792V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	816					'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						GCAATCTGGGCAGCTCTCCAA	0.478																																						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.(2374-2376)gCa>gTa		UDP-glucose glycoprotein glucosyltransferase 1							98	99	99					2																	128917179		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.chr2:128917179C>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.2447C>T	2.37:g.128917179C>T	ENSP00000259253:p.Ala816Val		Somatic				UGGT1_ENST00000259253.6_Missense_Mutation_p.A816V	p.A792V			WXS	Illumina GAIIx	Phase_I	Q9NYU2	UGGG1_HUMAN			23	2778	+			816					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2375C>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448915	0.96205	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.4	5.4	0.78164	.	0.154927	0.64402	D	0.000020	T	0.46268	0.1384	M	0.82323	2.585	0.80722	D	1	B;P	0.45594	0.171;0.862	B;B	0.44278	0.193;0.445	T	0.51148	-0.8742	9	.	.	.	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	792;816	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	V	792;816	ENSP00000365158:A792V;ENSP00000259253:A816V	.	A	+	2	0	UGGT1	128633649	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.315000	0.78998	2.696000	0.92011	0.557000	0.71058	GCA		0.478	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	63	16	63	---	---	---	---	T	128917179	C	T	128917179	3	4	320	1	0	0	0	0	1	0	0	0	16938	710	25	2	2537	2	UGGT1	2	128917179	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	730846	128917179	114282194	7	11520										
IGSF11	152404	broad.mit.edu	37	chr3	118621499	118621499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	ttcctactgactgagccattGctcctggacatcacctgtgg	9	13	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr3:118621499G>A	ENST00000393775.2	-	7	1469	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	IGSF11_ENST00000441144.2_Silent_p.S363S|IGSF11_ENST00000354673.2_Silent_p.S387S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000491903.1_Silent_p.S360S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	388			S -> N (in dbSNP:rs34908332).		cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGAGCCATTGCTCCTGGACA	0.527																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1159-1161)agC>agT		immunoglobulin superfamily, member 11							132	100	111					3																	118621499		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621499G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1164C>T	3.37:g.118621499G>A			Somatic				IGSF11_ENST00000491903.1_Silent_p.S360S|IGSF11_ENST00000489689.1_Silent_p.S364S|IGSF11_ENST00000393775.2_Silent_p.S388S|IGSF11_ENST00000425327.2_Silent_p.S387S|IGSF11_ENST00000441144.2_Silent_p.S363S	p.S387S	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			9	1541	-			388					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1161C>T	CCDS46891.1																																																																																				0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			14	40	14	40	---	---	---	---	A	118621499	G	A	118621499	2	1	320	1	0	0	0	0	0	0	0	1	7598	1310	46	2		2	IGSF11	3	118621499	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		118621499	79400931	8	11521										
WFS1	7466	broad.mit.edu	37	chr4	6302392	6302392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tctttcccccaggtggtcaaGtaccccctgcacgccatcat	7	17	3	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr4:6302392G>A	ENST00000226760.1	+	8	1040	c.870G>A	c.(868-870)aaG>aaA	p.K290K	WFS1_ENST00000503569.1_Silent_p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	290					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)		AGGTGGTCAAGTACCCCCTGC	0.617																																						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.(868-870)aaG>aaA		Wolfram syndrome 1 (wolframin)							137	119	125					4																	6302392		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.chr4:6302392G>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.870G>A	4.37:g.6302392G>A			Somatic				WFS1_ENST00000503569.1_Silent_p.K290K	p.K290K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	WXS	Illumina GAIIx	Phase_I	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1040	+			290					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.870G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	0.071	-1.202685	0.01581	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.45	2.34	0.29019	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-17.8313	4.2006	0.10464	0.5304:0.0:0.4696:0.0	.	.	.	.	N	168	.	.	S	+	2	0	WFS1	6353293	1.000000	0.71417	0.996000	0.52242	0.332000	0.28634	1.480000	0.35464	0.869000	0.35703	0.556000	0.70494	AGT		0.617	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			11	19	11	19	---	---	---	---	A	6302392	G	A	6302392	2	1	320	1	0	0	0	0	0	0	0	1	17357	1020	36	2		2	WFS1	4	6302392	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		6302392	184851884	9	11522										
RHOBTB3	22836	broad.mit.edu	37	chr5	95067675	95067675	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gccctctggtctccggggacGagagcagcttgttgctgaac	14	12	2	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr5:95067675G>T	ENST00000379982.3	+	2	623	c.115G>T	c.(115-117)Gag>Tag	p.E39*	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*|RHOBTB3_ENST00000515852.1_3'UTR	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				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)		CTCCGGGGACGAGAGCAGCTT	0.642																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(115-117)Gag>Tag		Rho-related BTB domain containing 3							57	52	54					5																	95067675		2203	4300	6503	SO:0001587	stop_gained	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067675G>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.115G>T	5.37:g.95067675G>T	ENSP00000369318:p.Glu39*		Somatic				RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Nonsense_Mutation_p.E39*	p.E39*	NM_014899.3	NP_055714.3	WXS	Illumina GAIIx	Phase_I	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	623	+		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)	39			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Nonsense_Mutation	SNP	ENST00000379982.3	37	c.115G>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774001	0.96922	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	.	.	.	4.86	4.86	0.63082	.	0.275955	0.34268	N	0.004115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.0894	15.2593	0.73610	0.0:0.0:1.0:0.0	.	.	.	.	X	45;39;39	.	ENSP00000369318:E39X	E	+	1	0	RHOBTB3	95093431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.255000	0.65462	2.396000	0.81511	0.557000	0.71058	GAG		0.642	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		3	36	3	36	---	---	---	---	T	95067675	G	T	95067675	4	4	320	1	0	0	0	0	0	1	0	0	13335	1059	37	3	121	3	RHOBTB3	5	95067675	Nonsense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		95067675	85847585	10	11523										
BAI3	577	broad.mit.edu	37	chr6	70071345	70071345	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tcatggcctctgagttggatGataatgcaggactatcaaga	11	7	3	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:70071345G>A	ENST00000370598.1	+	29	5001	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	BAI3_ENST00000546190.1_Missense_Mutation_p.D358N|BAI3_ENST00000238918.8_Missense_Mutation_p.D600N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1394					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)				TGAGTTGGATGATAATGCAGG	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.(4180-4182)Gat>Aat		brain-specific angiogenesis inhibitor 3							102	107	106					6																	70071345		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071345G>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.4180G>A	6.37:g.70071345G>A	ENSP00000359630:p.Asp1394Asn		Somatic				BAI3_ENST00000238918.8_Missense_Mutation_p.D600N|BAI3_ENST00000546190.1_Missense_Mutation_p.D358N	p.D1394N	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			29	5001	+		all_lung(197;0.212)	1394					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4180G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708064	0.48412	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.093649	0.64402	D	0.000001	T	0.02848	0.0085	N	0.22421	0.69	0.52099	D	0.999945	B;B	0.26635	0.155;0.0	B;B	0.26614	0.071;0.0	T	0.52895	-0.8514	10	0.23891	T	0.37	.	20.1141	0.97919	0.0:0.0:1.0:0.0	.	600;1394	B7Z356;O60242	.;BAI3_HUMAN	N	1394;600;358	ENSP00000359630:D1394N;ENSP00000238918:D600N;ENSP00000441821:D358N	ENSP00000238918:D600N	D	+	1	0	BAI3	70128066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.766000	0.95052	0.650000	0.86243	GAT		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			27	49	27	49	---	---	---	---	A	70071345	G	A	70071345	3	1	320	1	0	0	0	0	1	0	0	0	1300	1290	45	2	4286	2	BAI3	6	70071345	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		70071345	101043722	11	11524										
SYNE1	23345	broad.mit.edu	37	chr6	152453342	152453342	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	catcagcagaagaccaggaaGacaaatcctatgtgggagaa	11	8	1	4			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr6:152453342G>A	ENST00000367255.5	-	144	26610	c.26009C>T	c.(26008-26010)tCt>tTt	p.S8670F	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8670	Ser-rich.				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)		AGACCAGGAAGACAAATCCTA	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.(26008-26010)tCt>tTt		spectrin repeat containing, nuclear envelope 1							144	130	135					6																	152453342		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.chr6:152453342G>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.26009C>T	6.37:g.152453342G>A	ENSP00000356224:p.Ser8670Phe	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.S8282F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.S848F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8670F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8622F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S825F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3194F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8622F	p.S8670F	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	144	26610	-		Ovarian(120;0.0955)	8670			Ser-rich.		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.26009C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051727	0.93793	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.58210	0.44;4.52;1.34;0.45;0.35;0.45;0.54;2.41;1.5;4.52	5.75	5.75	0.90469	.	0.000000	0.49916	D	0.000130	T	0.66356	0.2781	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;P	0.71674	0.997;0.997;0.998;0.997;0.751	P;P;D;D;B	0.68483	0.851;0.851;0.958;0.909;0.395	T	0.63773	-0.6561	10	0.45353	T	0.12	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	8670;8670;8622;8622;872	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	F	8670;825;1316;8622;8670;8622;8282;3194;855;850;1615;848	ENSP00000356224:S8670F;ENSP00000441052:S825F;ENSP00000356226:S1316F;ENSP00000396024:S8622F;ENSP00000265368:S8670F;ENSP00000390975:S8622F;ENSP00000341887:S8282F;ENSP00000349276:S3194F;ENSP00000356220:S1615F;ENSP00000346701:S848F	ENSP00000265368:S8670F	S	-	2	0	SYNE1	152495035	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.230000	0.95299	2.719000	0.93026	0.655000	0.94253	TCT		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	86	24	86	---	---	---	---	A	152453342	G	A	152453342	3	1	320	1	0	0	0	0	1	0	0	0	15442	942	33	2	396	2	SYNE1	6	152453342	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	82381997	152453342	18661725	12	11525										
CA13	377677	broad.mit.edu	37	chr8	86163132	86163132	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	agcaacagcggccattccttCaatgttgactttgatgacac	8	11	1	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					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)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																						ENST00000321764.3																			2	Substitution - coding silent(2)	p.F67F(2)	lung(2)	large_intestine(1)|lung(6)	7						c.(199-201)ttC>ttT		carbonic anhydrase XIII							171	171	171					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	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.201C>T	8.37:g.86163132C>T			Somatic				CA13_ENST00000517298.1_3'UTR	p.F67F	NM_198584.2	NP_940986.1	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			2	503	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		5	221	5	221	---	---	---	---	T	86163132	C	T	86163132	2	4	320	1	0	0	0	0	0	0	0	1	2514	825	29	2		2	CA13	8	86163132	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		86163132	60200890	13	11526										
PSAT1	29968	broad.mit.edu	37	chr9	80923474	80923474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tgcaggctggaaacagctccTtgtacaacacgcctccatgt	9	13	0	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:80923474T>C	ENST00000376588.3	+	6	783	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	PSAT1_ENST00000347159.2_Silent_p.L239L	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	239					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						AAACAGCTCCTTGTACAACAC	0.537																																					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.(715-717)Ttg>Ctg		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						94	77	83					9																	80923474		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.chr9:80923474T>C	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.715T>C	9.37:g.80923474T>C			Somatic				PSAT1_ENST00000347159.2_Silent_p.L239L	p.L239L	NM_058179.2	NP_478059.1	WXS	Illumina GAIIx	Phase_I	Q9Y617	SERC_HUMAN			6	783	+			239					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.715T>C	CCDS6660.1																																																																																				0.537	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		3	59	3	59	---	---	---	---	C	80923474	T	C	80923474	2	2	320	1	0	0	0	0	0	0	0	1	12644	1606	56	2		2	PSAT1	9	80923474	Silent	SNP	T	TCGA-YL-A8SK-01B-21D-A377-08		80923474	60289957	14	11527										
SETX	23064	broad.mit.edu	37	chr9	135153581	135153581	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gatcatgttgtgttctacatTctcttccagcagtctgcaga	8	10	4	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr9:135153581T>G	ENST00000224140.5	-	21	6900	c.6718A>C	c.(6718-6720)Aat>Cat	p.N2240H	SETX_ENST00000372169.2_Missense_Mutation_p.N2240H|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2240					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)		TGTTCTACATTCTCTTCCAGC	0.453																																						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.(6718-6720)Aat>Cat		senataxin							176	156	163					9																	135153581		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153581T>G	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.6718A>C	9.37:g.135153581T>G	ENSP00000224140:p.Asn2240His		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.N2240H|SETX_ENST00000393220.1_Missense_Mutation_p.N2240H	p.N2240H			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	6900	-		Myeloproliferative disorder(178;0.204)	2240					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6718A>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310270	0.60414	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91011	-2.16;-2.77;-2.24;-1.89	5.87	2.19	0.27852	.	0.935070	0.09027	N	0.859291	D	0.88429	0.6434	L	0.39898	1.24	0.09310	N	1	B;P;P	0.49696	0.329;0.927;0.911	B;P;P	0.52109	0.208;0.69;0.562	T	0.77739	-0.2475	10	0.62326	D	0.03	.	2.2649	0.04076	0.1287:0.0912:0.2418:0.5384	.	2240;2240;2240	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	2240;482;2240;2240	ENSP00000224140:N2240H;ENSP00000409143:N482H;ENSP00000361242:N2240H;ENSP00000376913:N2240H	ENSP00000224140:N2240H	N	-	1	0	SETX	134143402	0.237000	0.23815	0.312000	0.25196	0.980000	0.70556	1.200000	0.32247	0.427000	0.26145	0.528000	0.53228	AAT		0.453	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		16	77	16	77	---	---	---	---	G	135153581	T	G	135153581	3	3	320	1	0	0	0	0	1	0	0	0	14141	1783	62	5	1339	5	SETX	9	135153581	Missense_Mutation	SNP	T	TCGA-YL-A8SK-01B-21D-A377-08	54230107	135153581	6059850	15	11528										
DLG5	9231	broad.mit.edu	37	chr10	79571813	79571813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	ctccgcaggtttatgccgttGaactggggaaacaccaggat	12	10	0	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:79571813G>A	ENST00000372391.2	-	22	4196	c.4191C>T	c.(4189-4191)ttC>ttT	p.F1397F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.F1057F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1397	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)			TTATGCCGTTGAACTGGGGAA	0.647																																						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.(4189-4191)ttC>ttT		discs, large homolog 5 (Drosophila)							66	60	62					10																	79571813		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.chr10:79571813G>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.4191C>T	10.37:g.79571813G>A			Somatic				DLG5_ENST00000372388.2_Silent_p.F1057F|DLG5_ENST00000459739.1_5'UTR	p.F1397F	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4196	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1397			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4191C>T	CCDS7353.2																																																																																				0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	43	10	43	---	---	---	---	A	79571813	G	A	79571813	2	1	320	1	0	0	0	0	0	0	0	1	4558	1281	45	2		2	DLG5	10	79571813	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		79571813	55962934	16	11529										
LRIT1	26103	broad.mit.edu	37	chr10	85992631	85992631	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	aggcccagcagagtccagctCgtgccgtcactggagacttc	12	14	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:85992631C>T	ENST00000372105.3	-	4	945	c.924G>A	c.(922-924)acG>acA	p.T308T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	308	Ig-like C2-type.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GAGTCCAGCTCGTGCCGTCAC	0.572																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(922-924)acG>acA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							26	25	25					10																	85992631		2181	4278	6459	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992631C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.924G>A	10.37:g.85992631C>T			Somatic					p.T308T	NM_015613.2	NP_056428.1	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			4	945	-			308			Ig-like C2-type.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.924G>A	CCDS7373.1																																																																																				0.572	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		8	30	8	30	---	---	---	---	T	85992631	C	T	85992631	2	4	320	1	0	0	0	0	0	0	0	1	8947	871	31	2		2	LRIT1	10	85992631	Silent	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	6420818	85992631	49542116	17	11530										
MORN4	118812	broad.mit.edu	37	chr10	99376049	99376049	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gagatttctggctgacttggAggcgctctgggcccgctgaa	15	10	2	3			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr10:99376049A>T	ENST00000307450.6	-	5	575	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.S196T|PI4K2A_ENST00000370649.3_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	138										large_intestine(1)|lung(1)|stomach(2)	4						GCTGACTTGGAGGCGCTCTGG	0.532																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(586-588)Tcc>Acc		MORN repeat containing 4							62	59	60					10																	99376049		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376049A>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.412T>A	10.37:g.99376049A>T	ENSP00000307636:p.Ser138Thr		Somatic				PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.S138T	p.S196T			WXS	Illumina GAIIx	Phase_I	Q8NDC4	MORN4_HUMAN			4	585	-			138					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.586T>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862519	0.71949	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.59638	0.68;0.25	5.03	5.03	0.67393	.	0.057529	0.64402	D	0.000001	T	0.65270	0.2675	L	0.40543	1.245	0.45946	D	0.998771	D;B	0.69078	0.997;0.39	P;B	0.60789	0.879;0.054	T	0.68577	-0.5372	10	0.66056	D	0.02	-11.5381	14.9245	0.70866	1.0:0.0:0.0:0.0	.	196;138	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	T	138;138;196	ENSP00000307636:S138T;ENSP00000335498:S196T	ENSP00000307636:S138T	S	-	1	0	MORN4	99366039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.875000	0.56108	2.119000	0.64992	0.459000	0.35465	TCC		0.532	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		3	32	3	32	---	---	---	---	T	99376049	A	T	99376049	3	4	320	1	0	0	0	0	1	0	0	0	9710	304	11	5	32	5	MORN4	10	99376049	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08	13383418	99376049	36158698	18	11531										
SIDT2	51092	broad.mit.edu	37	chr11	117052521	117052521	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	atctccctgcttcgggccatAggtttcagcgcaagtacctc	9	14	2	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr11:117052521A>G	ENST00000324225.4	+	3	836		c.e3-1		SIDT2_ENST00000431081.2_Splice_Site|SIDT2_ENST00000530948.1_Splice_Site	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2						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)		TTCGGGCCATAGGTTTCAGCG	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.e3-1		SID1 transmembrane family, member 2							80	81	81					11																	117052521		2201	4296	6497	SO:0001630	splice_region_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117052521A>G	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.306-1A>G	11.37:g.117052521A>G			Somatic	OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000431081.2_Splice_Site|SIDT2_ENST00000530948.1_Splice_Site		NM_001040455.1	NP_001035545.1	WXS	Illumina GAIIx	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	836	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)						Q8NBY7|Q9Y357	Splice_Site	SNP	ENST00000324225.4	37		CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840103	0.71488	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1236	0.72465	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT2	116557731	1.000000	0.71417	0.966000	0.40874	0.853000	0.48598	7.929000	0.87595	2.161000	0.67846	0.459000	0.35465	.		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	Intron	3	55	3	55	---	---	---	---	G	117052521	A	G	117052521	5	3	320	1	0	0	0	0	0	0	1	0	14303	434	15	2	314	2	SIDT2	11	117052521	Splice_Site	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		117052521	17953995	19	11532										
ATN1	1822	broad.mit.edu	37	chr12	7048124	7048124	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	cgagcctggggcccctggagCgagaacgtctagcgctggca	16	13	1	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:7048124C>G	ENST00000356654.4	+	7	3235	c.2998C>G	c.(2998-3000)Cga>Gga	p.R1000G	ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1000					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCCCTGGAGCGAGAACGTCT	0.682																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2998-3000)Cga>Gga		atrophin 1							46	55	52					12																	7048124		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048124C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2998C>G	12.37:g.7048124C>G	ENSP00000349076:p.Arg1000Gly		Somatic				ATN1_ENST00000396684.2_Missense_Mutation_p.R1000G	p.R1000G	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			7	3235	+			1000					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2998C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360027	0.41801	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.70631	-0.5;-0.5;-0.5	4.82	2.81	0.32909	.	0.000000	0.30620	U	0.009237	T	0.77184	0.4093	L	0.57536	1.79	0.47245	D	0.999362	D	0.57899	0.981	P	0.57283	0.817	T	0.79152	-0.1921	10	0.72032	D	0.01	.	14.0698	0.64852	0.5728:0.4272:0.0:0.0	.	1000	P54259	ATN1_HUMAN	G	1000;1000;1000;585	ENSP00000349076:R1000G;ENSP00000379915:R1000G;ENSP00000441744:R1000G	ENSP00000229279:R585G	R	+	1	2	ATN1	6918385	0.996000	0.38824	0.993000	0.49108	0.132000	0.20833	0.558000	0.23469	0.618000	0.30179	0.650000	0.86243	CGA		0.682	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22	84	22	84	---	---	---	---	G	7048124	C	G	7048124	3	3	320	1	0	0	0	0	1	0	0	0	1111	760	27	4	3020	4	ATN1	12	7048124	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08		7048124	126803771	20	11533										
C12orf12	196477	broad.mit.edu	37	chr12	91347894	91347894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	cccgcagcgcctcctgctgaCgctccaccttctcctgctgc	8	21	1	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr12:91347894C>T	ENST00000358859.2	-	1	1059	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	209																	CTCCTGCTGACGCTCCACCTT	0.647																																						ENST00000358859.2																			0											c.(625-627)cGt>cAt		coiled-coil glutamate-rich protein 1							81	85	84					12																	91347894		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347894C>T	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.626G>A	12.37:g.91347894C>T	ENSP00000351727:p.Arg209His		Somatic				CCER1_ENST00000548187.1_Intron	p.R209H	NM_152638.2	NP_689851.1	WXS	Illumina GAIIx	Phase_I					1	1059	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.626G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248913	0.39797	.	.	ENSG00000197651	ENST00000358859	T	0.36157	1.27	4.46	3.57	0.40892	.	0.000000	0.35040	N	0.003497	T	0.42494	0.1205	L	0.27053	0.805	0.28195	N	0.927583	D	0.89917	1.0	D	0.87578	0.998	T	0.19095	-1.0316	10	0.72032	D	0.01	-17.1838	8.0531	0.30589	0.0:0.7542:0.0:0.2458	.	209	Q8TC90	CL012_HUMAN	H	209	ENSP00000351727:R209H	ENSP00000351727:R209H	R	-	2	0	C12orf12	89872025	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	1.232000	0.32636	1.096000	0.41439	-0.355000	0.07637	CGT		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		12	95	12	95	---	---	---	---	T	91347894	C	T	91347894	3	4	320	1	0	0	0	0	1	0	0	0	1676	536	19	2	598	2	C12orf12	12	91347894	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	84299770	91347894	42504001	21	11534										
MAP1A	4130	broad.mit.edu	37	chr15	43817506	43817506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gatactctgcacagacagacAtcacagatgacagccttgac	8	12	2	5			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr15:43817506A>G	ENST00000300231.5	+	4	4285	c.3835A>G	c.(3835-3837)Atc>Gtc	p.I1279V	MAP1A_ENST00000382031.1_Missense_Mutation_p.I1517V|MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1279					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)	ACAGACAGACATCACAGATGA	0.542																																						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.(4549-4551)Atc>Gtc		microtubule-associated protein 1A	Estramustine(DB01196)						94	103	100					15																	43817506		2139	4260	6399	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817506A>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.3835A>G	15.37:g.43817506A>G	ENSP00000300231:p.Ile1279Val		Somatic				MAP1A_ENST00000399453.1_Missense_Mutation_p.I1279V|MAP1A_ENST00000300231.5_Missense_Mutation_p.I1279V	p.I1517V			WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4580	+		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)	1279					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4549A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031437	0.19590	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01335	5.0;5.01;5.01	4.89	-8.13	0.01073	.	.	.	.	.	T	0.01254	0.0041	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49263	-0.8958	9	0.17369	T	0.5	0.0	1.1362	0.01755	0.141:0.2854:0.2147:0.3589	.	1279	P78559	MAP1A_HUMAN	V	1517;1279;1279	ENSP00000371462:I1517V;ENSP00000382380:I1279V;ENSP00000300231:I1279V	ENSP00000300231:I1279V	I	+	1	0	MAP1A	41604798	0.000000	0.05858	0.006000	0.13384	0.170000	0.22686	-0.999000	0.03697	-0.997000	0.03450	-0.490000	0.04691	ATC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	39	4	39	---	---	---	---	G	43817506	A	G	43817506	3	3	320	1	0	0	0	0	1	0	0	0	9227	217	8	2	3837	2	MAP1A	15	43817506	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		43817506	58713886	22	11535										
USP31	57478	broad.mit.edu	37	chr16	23116855	23116855	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gccacaccaatcctcatgcaGtgagaacatttgccttgata	7	12	1	2			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr16:23116855G>C	ENST00000219689.7	-	5	995	c.996C>G	c.(994-996)caC>caG	p.H332Q		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				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)		TCCTCATGCAGTGAGAACATT	0.433																																						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.(994-996)caC>caG		ubiquitin specific peptidase 31							117	94	102					16																	23116855		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116855G>C	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.996C>G	16.37:g.23116855G>C	ENSP00000219689:p.His332Gln		Somatic					p.H332Q	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	995	-			332					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.996C>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630092	0.67015	.	.	ENSG00000103404	ENST00000219689	T	0.07688	3.17	4.69	3.72	0.42706	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.122893	0.53938	D	0.000057	T	0.13884	0.0336	L	0.35414	1.06	0.80722	D	1	D	0.60575	0.988	P	0.60012	0.867	T	0.07028	-1.0794	10	0.27785	T	0.31	-13.3742	12.1731	0.54169	0.0842:0.0:0.9158:0.0	.	332	Q70CQ4	UBP31_HUMAN	Q	332	ENSP00000219689:H332Q	ENSP00000219689:H332Q	H	-	3	2	USP31	23024356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.266000	0.65525	2.157000	0.67596	0.655000	0.94253	CAC		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		6	60	6	60	---	---	---	---	C	23116855	G	C	23116855	3	2	320	1	0	0	0	0	1	0	0	0	17059	1020	36	4	3110	4	USP31	16	23116855	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08		23116855	67237898	23	11536										
ZNF420	147923	broad.mit.edu	37	chr19	37619569	37619569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tcatactggtgagaaaccatAtcaatgtaaggaatgtggga	11	5	2	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:37619569A>G	ENST00000337995.3	+	5	1891	c.1676A>G	c.(1675-1677)tAt>tGt	p.Y559C	CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	559					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)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCATATCAATGTAAG	0.418																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1675-1677)tAt>tGt		zinc finger protein 420							85	82	83					19																	37619569		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619569A>G	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.1676A>G	19.37:g.37619569A>G	ENSP00000338770:p.Tyr559Cys		Somatic				ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron	p.Y559C	NM_144689.3	NP_653290.2	WXS	Illumina GAIIx	Phase_I	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1891	+			559					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.1676A>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475659	0.26511	.	.	ENSG00000197050	ENST00000337995	T	0.25414	1.8	4.35	0.945	0.19543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45478	0.1344	M	0.78344	2.41	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.23619	-1.0183	8	.	.	.	.	4.6931	0.12790	0.4503:0.0:0.086:0.4637	.	559	Q8TAQ5	ZN420_HUMAN	C	559	ENSP00000338770:Y559C	.	Y	+	2	0	ZNF420	42311409	0.000000	0.05858	0.040000	0.18447	0.934000	0.57294	-0.302000	0.08221	-0.096000	0.12329	-0.438000	0.05819	TAT		0.418	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		4	59	4	59	---	---	---	---	G	37619569	A	G	37619569	3	3	320	1	0	0	0	0	1	0	0	0	17894	449	16	2	1686	2	ZNF420	19	37619569	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		37619569	21509414	24	11537										
LILRB3	11025	broad.mit.edu	37	chr19	54721088	54721088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tgggcgtaggtcacatcctgGgaggcttcagatgcagcagc	15	10	2	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:54721088G>T	ENST00000391750.1	-	14	1906	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	LILRB3_ENST00000245620.9_Silent_p.S591S|LILRB3_ENST00000346401.6_Silent_p.S602S|LILRA6_ENST00000440558.2_Silent_p.S590S|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000424807.1_Silent_p.S590S|LILRA6_ENST00000419410.2_Silent_p.S591S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	590					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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;0.105)		TCACATCCTGGGAGGCTTCAG	0.637																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1768-1770)tcC>tcA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							80	85	83					19																	54721088		2203	4300	6503	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721088G>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1770C>A	19.37:g.54721088G>T			Somatic				LILRB3_ENST00000245620.9_Silent_p.S591S|LILRA6_ENST00000419410.2_Silent_p.S591S|LILRB3_ENST00000424807.1_Silent_p.S590S|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.S607S|LILRA6_ENST00000440558.2_Silent_p.S590S|LILRA6_ENST00000270464.5_Silent_p.S591S|LILRB3_ENST00000346401.6_Silent_p.S602S	p.S590S			WXS	Illumina GAIIx	Phase_I	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1906	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		590					C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1770C>A	CCDS33105.1																																																																																				0.637	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		14	45	14	45	---	---	---	---	T	54721088	G	T	54721088	2	4	320	1	0	0	0	0	0	0	0	1	8792	1219	43	1		1	LILRB3	19	54721088	Silent	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	17101519	54721088	4407895	25	11538										
PTPRH	5794	broad.mit.edu	37	chr19	55693512	55693512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	gagggttcctgtgcgacccaCgccagcactaggcagaacaa	12	13	0	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:55693512C>T	ENST00000376350.3	-	19	3092	c.3070G>A	c.(3070-3072)Gtg>Atg	p.V1024M	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GTGCGACCCACGCCAGCACTA	0.587																																						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.(3070-3072)Gtg>Atg		protein tyrosine phosphatase, receptor type, H							72	73	73					19																	55693512		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693512C>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.3070G>A	19.37:g.55693512C>T	ENSP00000365528:p.Val1024Met		Somatic				PTPRH_ENST00000263434.5_Missense_Mutation_p.V846M	p.V1024M	NM_002842.3	NP_002833.3	WXS	Illumina GAIIx	Phase_I	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3092	-		Renal(1328;0.245)	1024			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3070G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593873	0.86953	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.85339	-1.97;-1.97	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.33938	N	0.004405	D	0.94558	0.8247	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96016	0.9005	10	0.87932	D	0	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	846;1024	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	1024;846	ENSP00000365528:V1024M;ENSP00000263434:V846M	ENSP00000263434:V846M	V	-	1	0	PTPRH	60385324	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	4.522000	0.60539	2.431000	0.82371	0.650000	0.86243	GTG		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			17	64	17	64	---	---	---	---	T	55693512	C	T	55693512	3	4	320	1	0	0	0	0	1	0	0	0	12803	536	19	2	285	2	PTPRH	19	55693512	Missense_Mutation	SNP	C	TCGA-YL-A8SK-01B-21D-A377-08	972424	55693512	3435471	26	11539										
ZNF471	57573	broad.mit.edu	37	chr19	57036932	57036932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	tggaaaagcttttagaatcaGttcacagctggctactcatc	8	9	3	1			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chr19:57036932G>T	ENST00000308031.5	+	5	1629	c.1496G>T	c.(1495-1497)aGt>aTt	p.S499I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTAGAATCAGTTCACAGCTG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1495-1497)aGt>aTt		zinc finger protein 471							56	59	58					19																	57036932		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036932G>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1496G>T	19.37:g.57036932G>T	ENSP00000309161:p.Ser499Ile		Somatic				ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.S499I	NM_020813.2	NP_065864.2	WXS	Illumina GAIIx	Phase_I	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1629	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	499					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1496G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211425	0.22289	.	.	ENSG00000196263	ENST00000308031	T	0.10288	2.89	3.51	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	M	0.73372	2.23	0.09310	N	1	P	0.44946	0.846	B	0.29267	0.1	T	0.24764	-1.0151	9	0.35671	T	0.21	.	8.7518	0.34620	0.2046:0.0:0.7954:0.0	.	499	Q9BX82	ZN471_HUMAN	I	499	ENSP00000309161:S499I	ENSP00000309161:S499I	S	+	2	0	ZNF471	61728744	0.000000	0.05858	0.335000	0.25508	0.949000	0.60115	-0.415000	0.07106	0.681000	0.31386	0.462000	0.41574	AGT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		17	45	17	45	---	---	---	---	T	57036932	G	T	57036932	3	4	320	1	0	0	0	0	1	0	0	0	17927	1029	36	3	1510	3	ZNF471	19	57036932	Missense_Mutation	SNP	G	TCGA-YL-A8SK-01B-21D-A377-08	1343420	57036932	2092051	27	11540										
SSX3	10214	broad.mit.edu	37	chrX	48207020	48207020	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	4	0.968713181754189	1.91596638655462	0	2.23529411764706	0.0285714285714286	1	0	cgcagtctgtgggtccaggcAtgttccccccttttgggtcc	12	14	1	0			TCGA-YL-A8SK-01B-21D-A377-08	TCGA-YL-A8SK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b319c1-a436-4ade-bade-62393163aeaf	8a62da06-7d92-47d9-86fe-07676e6ac836	g.chrX:48207020A>T	ENST00000298396.2	-	7	538	c.486T>A	c.(484-486)caT>caA	p.H162Q	SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GGGTCCAGGCATGTTCCCCCC	0.478																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(484-486)caT>caA		synovial sarcoma, X breakpoint 3							259	234	242					X																	48207020		2203	4297	6500	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207020A>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.486T>A	X.37:g.48207020A>T	ENSP00000298396:p.His162Gln		Somatic				SSX3_ENST00000376895.1_Missense_Mutation_p.H74Q	p.H162Q	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	538	-			162					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.486T>A	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	a	12.40	1.927391	0.34002	.	.	ENSG00000165584	ENST00000298396;ENST00000376895	T;T	0.32023	3.14;1.47	1.86	-0.931	0.10438	SSXRD motif (1);	2.040690	0.02170	N	0.059583	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	P	0.50272	0.933	P	0.53146	0.719	T	0.07908	-1.0748	10	0.46703	T	0.11	.	1.5181	0.02510	0.4783:0.0:0.212:0.3098	.	162	Q99909	SSX3_HUMAN	Q	162;74	ENSP00000298396:H162Q;ENSP00000366092:H74Q	ENSP00000298396:H162Q	H	-	3	2	SSX3	48091964	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.313000	0.08103	-0.316000	0.08690	0.293000	0.19593	CAT		0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		66	112	66	112	---	---	---	---	T	48207020	A	T	48207020	3	4	320	1	0	0	0	0	1	0	0	0	15204	214	8	5	84	5	SSX3	23	48207020	Missense_Mutation	SNP	A	TCGA-YL-A8SK-01B-21D-A377-08		48207020	107063540	28	11541										
CLSTN1	22883	broad.mit.edu	37	chr1	9804060	9804060	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gggagtagtggtgccgattcAtatctgcaaaggcagtttct	13	7	3	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:9804060A>T	ENST00000377298.4	-	9	2030	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	413					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)		GTGCCGATTCATATCTGCAAA	0.438																																						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.(1237-1239)aTg>aAg		calsyntenin 1							88	95	93					1																	9804060		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.chr1:9804060A>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.1238T>A	1.37:g.9804060A>T	ENSP00000366513:p.Met413Lys		Somatic				CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	p.M413K	NM_001009566.1	NP_001009566.1	WXS	Illumina GAIIx	Phase_I	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)	9	2030	-	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)	413					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1238T>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009951	0.75046	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.66	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.037233	0.85682	D	0.000000	T	0.08537	0.0212	M	0.69248	2.105	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.58721	0.844;0.758;0.844	T	0.03221	-1.1059	10	0.51188	T	0.08	-46.8057	13.0661	0.59034	0.8657:0.1343:0.0:0.0	.	413;403;413	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	K	413;403;233;413;413	ENSP00000366513:M413K;ENSP00000354997:M403K;ENSP00000401934:M233K;ENSP00000366502:M413K	ENSP00000354997:M403K	M	-	2	0	CLSTN1	9726647	1.000000	0.71417	0.992000	0.48379	0.675000	0.39556	6.212000	0.72188	1.039000	0.40074	0.533000	0.62120	ATG		0.438	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			24	33	24	33	---	---	---	---	T	9804060	A	T	9804060	3	4	321	1	0	0	0	0	1	0	0	0	3561	217	8	5	1751	5	CLSTN1	1	9804060	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08		9804060	239446561	1	11542										
POMGNT1	55624	broad.mit.edu	37	chr1	46663480	46663480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gcttgatgagggggctgggcTtccagtcgtccataccggat	15	10	0	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:46663480T>G	ENST00000371984.3	-	2	171	c.14A>C	c.(13-15)aAg>aCg	p.K5T	POMGNT1_ENST00000396420.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	5					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)					GGGGCTGGGCTTCCAGTCGTC	0.582																																						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.(13-15)aAg>aCg		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							60	62	62					1																	46663480		2203	4300	6503	SO:0001583	missense	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.chr1:46663480T>G		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.14A>C	1.37:g.46663480T>G	ENSP00000361052:p.Lys5Thr		Somatic				POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T	p.K5T			WXS	Illumina GAIIx	Phase_I	Q8WZA1	PMGT1_HUMAN			2	650	-	Acute lymphoblastic leukemia(166;0.155)		5					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.14A>C	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094644	0.56075	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000371986	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.43	5.43	0.79202	.	0.224762	0.53938	D	0.000058	T	0.59797	0.2220	N	0.16307	0.4	0.37977	D	0.933467	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.003	T	0.58329	-0.7655	10	0.21014	T	0.42	-21.7741	15.4786	0.75504	0.0:0.0:0.0:1.0	.	5;5;5	Q68CV6;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	T	5	ENSP00000379698:K5T;ENSP00000361052:K5T;ENSP00000361060:K5T;ENSP00000361054:K5T	ENSP00000361052:K5T	K	-	2	0	POMGNT1	46436067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.048000	0.71046	2.056000	0.61249	0.533000	0.62120	AAG		0.582	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		32	44	32	44	---	---	---	---	G	46663480	T	G	46663480	3	3	321	1	0	0	0	0	1	0	0	0	12243	1609	56	5	2052	5	POMGNT1	1	46663480	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	36859420	46663480	202587141	2	11543										
OLFML3	56944	broad.mit.edu	37	chr1	114524076	114524076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ttgtgtctggccaagttagaTccacagacactggacacaga	10	10	1	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:114524076T>G	ENST00000320334.4	+	3	980	c.906T>G	c.(904-906)gaT>gaG	p.D302E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000369551.1_Missense_Mutation_p.D282E	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	302	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		CCAAGTTAGATCCACAGACAC	0.547																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(844-846)gaT>gaG		olfactomedin-like 3							99	82	87					1																	114524076		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524076T>G	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.906T>G	1.37:g.114524076T>G	ENSP00000322273:p.Asp302Glu		Somatic				OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E	p.D282E			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_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	1134	+	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)	302			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.846T>G	CCDS870.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037802	0.54896	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.90676	-2.71;-2.71;-2.71	5.96	1.56	0.23342	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	L	0.59967	1.855	0.80722	D	1	P;P	0.51537	0.946;0.757	B;B	0.43155	0.41;0.334	T	0.76634	-0.2887	10	0.32370	T	0.25	.	9.4195	0.38541	0.0:0.6642:0.0:0.3358	.	282;302	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	E	282;302;282	ENSP00000358564:D282E;ENSP00000322273:D302E;ENSP00000376977:D282E	ENSP00000322273:D302E	D	+	3	2	OLFML3	114325599	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	0.213000	0.17521	0.278000	0.22164	0.533000	0.62120	GAT		0.547	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		12	54	12	54	---	---	---	---	G	114524076	T	G	114524076	3	3	321	1	0	0	0	0	1	0	0	0	10859	1432	50	5	916	5	OLFML3	1	114524076	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	67860596	114524076	134726545	3	11544										
TBX15	6913	broad.mit.edu	37	chr1	119428032	119428032	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cacattgaaagtgttgggggCcagatgaaaagttggaggag	16	4	0	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:119428032C>G	ENST00000369429.3	-	8	1141	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	TBX15_ENST00000207157.3_Missense_Mutation_p.A272P			Q96SF7	TBX15_HUMAN	T-box 15	378					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)		GTGTTGGGGGCCAGATGAAAA	0.522																																						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.(1132-1134)Gcc>Ccc		T-box 15							38	43	41					1																	119428032		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119428032C>G	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.1132G>C	1.37:g.119428032C>G	ENSP00000358437:p.Ala378Pro		Somatic				TBX15_ENST00000207157.3_Missense_Mutation_p.A272P	p.A378P			WXS	Illumina GAIIx	Phase_I	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1141	-	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)	378					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1132G>C		.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078516	0.07184	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.73469	-0.75;-0.75;-0.75	5.67	5.67	0.87782	.	0.060715	0.64402	D	0.000004	T	0.36303	0.0962	N	0.13235	0.315	0.47183	D	0.999348	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.004	T	0.32851	-0.9891	10	0.10636	T	0.68	.	9.5506	0.39308	0.0:0.7824:0.1436:0.074	.	175;378	E9PCG3;Q96SF7	.;TBX15_HUMAN	P	175;272;378;106;105	ENSP00000207157:A272P;ENSP00000358437:A378P;ENSP00000398625:A106P	ENSP00000207157:A272P	A	-	1	0	TBX15	119229555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.547000	0.60712	2.686000	0.91538	0.561000	0.74099	GCC		0.522	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	32	6	32	---	---	---	---	G	119428032	C	G	119428032	3	3	321	1	0	0	0	0	1	0	0	0	15649	739	26	4	680	4	TBX15	1	119428032	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	4903956	119428032	129822589	4	11545										
GPA33	10223	broad.mit.edu	37	chr1	167038355	167038355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	atgtagtttttgtttgaaaaCggccagatgaccaccctttc	8	9	0	3	rs144380186		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					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						TGTTTGAAAACGGCCAGATGA	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		16036	0		0	False		,,,				2504	0					ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(217-219)ccG>ccA		glycoprotein A33 (transmembrane)		C		11,4395	17.9+/-39.9	0,11,2192	93	87	89		219	-11.3	0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPA33	NM_005814.1		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		73/320	167038355	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167038355C>T	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.219G>A	1.37:g.167038355C>T			Somatic				GPA33_ENST00000527955.1_5'UTR	p.P73P	NM_005814.1	NP_005805.1	WXS	Illumina GAIIx	Phase_I	Q99795	GPA33_HUMAN			3	562	-			73			Ig-like V-type.		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.219G>A	CCDS1258.1																																																																																				0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		13	19	13	19	---	---	---	---	T	167038355	C	T	167038355	2	4	321	1	0	0	0	0	0	0	0	1	6586	523	19	2		2	GPA33	1	167038355	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	47610323	167038355	82212266	5	11546										
PLA2G4A	5321	broad.mit.edu	37	chr1	186925324	186925324	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	aatggccttggtgagtgattCagctttattcaataccagag	10	7	2	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:186925324C>G	ENST00000367466.3	+	14	1579	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	476	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)	GTGAGTGATTCAGCTTTATTC	0.418																																						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.(1426-1428)tCa>tGa		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)						154	137	143					1																	186925324		2203	4300	6503	SO:0001587	stop_gained	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.chr1:186925324C>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.1427C>G	1.37:g.186925324C>G	ENSP00000356436:p.Ser476*		Somatic				PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	p.S476*	NM_024420.2	NP_077734	WXS	Illumina GAIIx	Phase_I	P47712	PA24A_HUMAN			14	1579	+			476			PLA2c.		B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	c.1427C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	38	6.814899	0.97857	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.45	5.45	0.79879	.	0.179711	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0726	14.9864	0.71351	0.0:0.8472:0.1528:0.0	.	.	.	.	X	476;416	.	ENSP00000356436:S476X	S	+	2	0	PLA2G4A	185191947	1.000000	0.71417	0.282000	0.24776	0.955000	0.61496	5.814000	0.69208	2.725000	0.93324	0.655000	0.94253	TCA		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		22	30	22	30	---	---	---	---	G	186925324	C	G	186925324	4	3	321	1	0	0	0	0	0	1	0	0	12001	838	29	4	1477	4	PLA2G4A	1	186925324	Nonsense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	19886969	186925324	62325297	6	11547										
PTPRC	5788	broad.mit.edu	37	chr1	198713285	198713285	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	catatctacataacatgaagAaaagggatccacccagtgag	8	9	1	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:198713285A>C	ENST00000367376.2	+	26	2965	c.2794A>C	c.(2794-2796)Aaa>Caa	p.K932Q	PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	932					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						TAACATGAAGAAAAGGGATCC	0.378																																						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.(2794-2796)Aaa>Caa		protein tyrosine phosphatase, receptor type, C							85	80	82					1																	198713285		2202	4298	6500	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.chr1:198713285A>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.2794A>C	1.37:g.198713285A>C	ENSP00000356346:p.Lys932Gln		Somatic				PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q	p.K932Q	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	P08575	PTPRC_HUMAN			26	2965	+			932					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2794A>C		.	.	.	.	.	.	.	.	.	.	A	12.71	2.020906	0.35606	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.14022	2.54	5.78	5.78	0.91487	.	0.000000	0.52532	D	0.000069	T	0.08758	0.0217	N	0.17474	0.49	0.38002	D	0.934276	B;P;B	0.34462	0.264;0.454;0.264	B;B;B	0.37601	0.186;0.254;0.186	T	0.23583	-1.0184	10	0.07813	T	0.8	.	11.2273	0.48890	0.8633:0.0:0.0:0.1367	.	773;884;932	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	Q	934;884;932;771	ENSP00000193532:K884Q	ENSP00000306782:K771Q	K	+	1	0	PTPRC	196979908	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.279000	0.43435	2.199000	0.70637	0.519000	0.50382	AAA		0.378	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	21	15	21	---	---	---	---	C	198713285	A	C	198713285	3	2	321	1	0	0	0	0	1	0	0	0	12797	247	9	5	2903	5	PTPRC	1	198713285	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	11787961	198713285	50537336	7	11548										
PPP2R5A	5525	broad.mit.edu	37	chr1	212515567	212515567	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cttgagatttttggagagccCtgatttccagcctagcattg	10	9	0	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:212515567C>G	ENST00000261461.2	+	4	1092	c.518C>G	c.(517-519)cCt>cGt	p.P173R	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	173					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)		TTGGAGAGCCCTGATTTCCAG	0.348																																						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.(517-519)cCt>cGt		protein phosphatase 2, regulatory subunit B', alpha							130	124	126					1																	212515567		2203	4300	6503	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.chr1:212515567C>G	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.518C>G	1.37:g.212515567C>G	ENSP00000261461:p.Pro173Arg		Somatic				PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R	p.P173R	NM_006243.3	NP_006234.1	WXS	Illumina GAIIx	Phase_I	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)	4	1092	+			173					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.518C>G	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359211	0.82353	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.86	5.86	0.93980	Armadillo-type fold (1);	0.046304	0.85682	N	0.000000	T	0.81059	0.4744	M	0.88181	2.935	0.58432	D	0.999998	P;P	0.43314	0.803;0.803	P;P	0.49252	0.604;0.604	D	0.83591	0.0123	9	0.72032	D	0.01	-11.9491	20.1837	0.98210	0.0:1.0:0.0:0.0	.	116;173	B7Z7L2;Q15172	.;2A5A_HUMAN	R	173;173;116	.	ENSP00000261461:P173R	P	+	2	0	PPP2R5A	210582190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.774000	0.95407	0.650000	0.86243	CCT		0.348	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	72	48	72	---	---	---	---	G	212515567	C	G	212515567	3	3	321	1	0	0	0	0	1	0	0	0	12392	681	24	4	532	4	PPP2R5A	1	212515567	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	13802282	212515567	36735054	8	11549										
SMYD2	56950	broad.mit.edu	37	chr1	214491465	214491465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ttcggaaaaattgttagctgTgaaggagtttgaatcacgta	11	4	1	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:214491465T>C	ENST00000366957.5	+	4	414	c.392T>C	c.(391-393)gTg>gCg	p.V131A	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	131	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		TTGTTAGCTGTGAAGGAGTTT	0.448																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(391-393)gTg>gCg		SET and MYND domain containing 2							106	110	108					1																	214491465		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.chr1:214491465T>C	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.392T>C	1.37:g.214491465T>C	ENSP00000355924:p.Val131Ala		Somatic				SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A	p.V131A	NM_020197.2	NP_064582.2	WXS	Illumina GAIIx	Phase_I	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)	4	414	+			131			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.392T>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423922	0.83667	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14640	2.49;2.49	5.62	5.62	0.85841	SET domain (2);	0.263700	0.38492	N	0.001674	T	0.26195	0.0639	L	0.39147	1.195	0.58432	D	0.999992	D;P	0.56968	0.978;0.94	P;P	0.62560	0.904;0.836	T	0.00883	-1.1528	10	0.31617	T	0.26	-1.5315	15.8248	0.78690	0.0:0.0:0.0:1.0	.	131;115	Q9NRG4;Q05C86	SMYD2_HUMAN;.	A	131	ENSP00000355924:V131A;ENSP00000388682:V131A	ENSP00000355924:V131A	V	+	2	0	SMYD2	212558088	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.987000	0.76206	2.140000	0.66376	0.459000	0.35465	GTG		0.448	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		31	52	31	52	---	---	---	---	C	214491465	T	C	214491465	3	2	321	1	0	0	0	0	1	0	0	0	14822	1696	59	2	406	2	SMYD2	1	214491465	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	1975898	214491465	34759156	9	11550										
USH2A	7399	broad.mit.edu	37	chr1	216251433	216251433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cctccagatggaacttacctTgttccaaacacaaatgttga	6	11	0	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:216251433T>G	ENST00000307340.3	-	27	5956	c.5570A>C	c.(5569-5571)cAa>cCa	p.Q1857P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1857P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1857	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)		GAACTTACCTTGTTCCAAACA	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.(5569-5571)cAa>cCa		Usher syndrome 2A (autosomal recessive, mild)							72	77	75					1																	216251433		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.chr1:216251433T>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.5570A>C	1.37:g.216251433T>G	ENSP00000305941:p.Gln1857Pro	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.Q1857P			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5956	-			1857			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5570A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941165	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	5.01	-2.47	0.06442	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);	0.384731	0.18942	N	0.126915	T	0.64080	0.2566	L	0.43701	1.375	0.21841	N	0.999514	B	0.15141	0.012	B	0.16722	0.016	T	0.48547	-0.9026	10	0.27785	T	0.31	.	8.6101	0.33797	0.2134:0.0:0.4408:0.3458	.	1857	O75445	USH2A_HUMAN	P	1857	ENSP00000305941:Q1857P;ENSP00000355910:Q1857P	ENSP00000305941:Q1857P	Q	-	2	0	USH2A	214318056	1.000000	0.71417	0.478000	0.27316	0.911000	0.54048	1.443000	0.35057	-0.804000	0.04410	0.528000	0.53228	CAA		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	35	31	35	---	---	---	---	G	216251433	T	G	216251433	3	3	321	1	0	0	0	0	1	0	0	0	17033	1812	63	5	10222	5	USH2A	1	216251433	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08	1759968	216251433	32999188	10	11551										
CASR	846	broad.mit.edu	37	chr3	122002787	122002792	+	In_Frame_Del	DEL	CTCCAG	CTCCAG	-													0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ttctccctgctctgctgcttCtccagctccctgttcttcat							TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122002787_122002792delCTCCAG	ENST00000490131.1	+	7	2358_2363	c.1986_1991delCTCCAG	c.(1984-1992)ttctccagc>ttc	p.SS663del	CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_In_Frame_Del_p.SS673del	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	663					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)	TCTGCTGCTTCTCCAGCTCCCTGTTC	0.592																																						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.(2014-2022)ttctccagc>ttc		calcium-sensing receptor	Cinacalcet(DB01012)																																			SO:0001651	inframe_deletion	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.chr3:122002787_122002792delCTCCAG	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.1986_1991delCTCCAG	3.37:g.122002787_122002792delCTCCAG	ENSP00000418685:p.Ser663_Ser664del		Somatic				CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000490131.1_In_Frame_Del_p.SS663del	p.SS673del	NM_001178065.1	NP_001171536	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2454_2459	+			663					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	In_Frame_Del	DEL	ENST00000490131.1	37	c.2016_2021delCTCCAG	CCDS3010.1																																																																																				0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		19	58	19	58	---	---	---	---	-	122002792	CTCCAG	-	122002787	7	5	321	1	0	1	0	1	0	0	0	0	2682	912	32	0	2038	0	CASR	3	122002787	In_Frame_Del	DEL	CTCCAG	TCGA-YL-A8SL-01B-21D-A377-08		122002787	76019643	11	11552										
SEC22A	26984	broad.mit.edu	37	chr3	122990559	122990559	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ccagggcaaggctcccgattAtgatgtctgacaccatcctt	9	13	1	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122990559A>C	ENST00000309934.4	+	6	1810	c.914A>C	c.(913-915)tAt>tCt	p.Y305S	SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S|SEC22A_ENST00000481965.2_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTCCCGATTATGATGTCTGA	0.493																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(913-915)tAt>tCt		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							62	55	57					3																	122990559		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122990559A>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.914A>C	3.37:g.122990559A>C	ENSP00000310521:p.Tyr305Ser		Somatic				SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S	p.Y305S	NM_012430.4	NP_036562.2	WXS	Illumina GAIIx	Phase_I	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	6	1810	+			305					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.914A>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839629	0.71488	.	.	ENSG00000121542	ENST00000492595;ENST00000309934	T;T	0.22539	1.95;1.95	5.84	5.84	0.93424	.	0.058484	0.64402	D	0.000001	T	0.28499	0.0705	M	0.77616	2.38	0.58432	D	0.999998	P	0.36065	0.535	B	0.34722	0.188	T	0.05273	-1.0895	10	0.27082	T	0.32	0.2936	16.2123	0.82170	1.0:0.0:0.0:0.0	.	305	Q96IW7	SC22A_HUMAN	S	305	ENSP00000417972:Y305S;ENSP00000310521:Y305S	ENSP00000310521:Y305S	Y	+	2	0	SEC22A	124473249	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.962000	0.93254	2.231000	0.72958	0.455000	0.32223	TAT		0.493	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		14	22	14	22	---	---	---	---	C	122990559	A	C	122990559	3	2	321	1	0	0	0	0	1	0	0	0	13988	449	16	5	936	5	SEC22A	3	122990559	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	987772	122990559	75031871	12	11553										
PIK3CB	5291	broad.mit.edu	37	chr3	138417865	138417865	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	aataagatccatttcattttCacacagttgagacaagggat	7	7	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:138417865C>T	ENST00000477593.1	-	12	1727	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	552	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)	p.E552K(1)		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)	ATTTCATTTTCACACAGTTGA	0.373																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.E552K(1)	endometrium(1)	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.(1654-1656)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							98	98	98					3																	138417865		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.chr3:138417865C>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.1654G>A	3.37:g.138417865C>T	ENSP00000418143:p.Glu552Lys		Somatic				PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K	p.E552K			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			12	1727	-			552			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1654G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522909	0.85600	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63255	-0.03;-0.03	5.91	5.01	0.66863	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.73708	0.897;0.981	T	0.69228	-0.5200	10	0.30078	T	0.28	-17.9641	16.5318	0.84362	0.1311:0.8689:0.0:0.0	.	552;139	P42338;B4DZI3	PK3CB_HUMAN;.	K	552	ENSP00000418143:E552K;ENSP00000289153:E552K	ENSP00000289153:E552K	E	-	1	0	PIK3CB	139900555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.758000	0.68776	2.805000	0.96524	0.460000	0.39030	GAA		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	71	7	71	---	---	---	---	T	138417865	C	T	138417865	3	4	321	1	0	0	0	0	1	0	0	0	11914	835	29	2	1604	2	PIK3CB	3	138417865	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	15427306	138417865	59604565	13	11554										
GSX2	170825	broad.mit.edu	37	chr4	54966544	54966544	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ttctatgtcgactcgctcatCatcaaggacacctcacggcc	7	15	5	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr4:54966544C>A	ENST00000326902.2	+	1	347	c.33C>A	c.(31-33)atC>atA	p.I11I	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.I11I	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	11					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ACTCGCTCATCATCAAGGACA	0.642																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(31-33)atC>atA		GS homeobox 2							57	44	48					4																	54966544		2203	4299	6502	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966544C>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.33C>A	4.37:g.54966544C>A			Somatic				GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	p.I11I	NM_133267.2	NP_573574.1	WXS	Illumina GAIIx	Phase_I	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	347	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		11						Silent	SNP	ENST00000326902.2	37	c.33C>A	CCDS3494.1																																																																																				0.642	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		3	29	3	29	---	---	---	---	A	54966544	C	A	54966544	2	1	321	1	0	0	0	0	0	0	0	1	6850	816	29	3		3	GSX2	4	54966544	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		54966544	136187732	14	11555										
C5orf23	4883	broad.mit.edu	37	chr5	32789763	32789763	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	aatcattaatttactcaaggCacatgtgccttctttgcccc	5	12	3	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:32789763C>T	ENST00000265074.8	+	0	5281				AC026703.1_ENST00000326958.1_Missense_Mutation_p.H86Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTACTCAAGGCACATGTGCCT	0.408																																						ENST00000326958.1																			0											c.(256-258)Cac>Tac									141	120	127					5																	32789763		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4883							g.chr5:32789763C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3312C>T	5.37:g.32789763C>T			Somatic				NPR3_ENST00000265074.8_3'UTR	p.H86Y			WXS	Illumina GAIIx	Phase_I					1	819	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.256C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896437	0.33442	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.68	0.628	0.17681	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.20764	N	0.999855	.	.	.	.	.	.	T	0.36768	-0.9734	5	0.87932	D	0	.	3.3698	0.07216	0.3585:0.4458:0.0:0.1957	.	.	.	.	Y	86	.	ENSP00000318340:H86Y	H	+	1	0	AC026703.1	32825520	0.003000	0.15002	0.008000	0.14137	0.956000	0.61745	-0.148000	0.10219	0.301000	0.22738	0.591000	0.81541	CAC		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		4	126	4	126	---	---	---	---	T	32789763	C	T	32789763	1	4	321	0	1	0	0	0	0	0	0	0	2286	710	25	2		2	C5orf23	5	32789763	3'UTR	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		32789763	148125497	15	11556										
GPR110	266977	broad.mit.edu	37	chr6	46973590	46973590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	caagaacttaaggcagacaaCttgttgaacagaagttgtcg	10	7	0	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:46973590C>T	ENST00000371253.2	-	13	2771	c.2556G>A	c.(2554-2556)aaG>aaA	p.K852K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	852					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						AGGCAGACAACTTGTTGAACA	0.373																																						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.(2554-2556)aaG>aaA		G protein-coupled receptor 110							79	64	69					6																	46973590		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46973590C>T	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.2556G>A	6.37:g.46973590C>T			Somatic				GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	p.K852K	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	Q5T601	GP110_HUMAN			13	2771	-			852					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2556G>A	CCDS34471.1																																																																																				0.373	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	20	15	20	---	---	---	---	T	46973590	C	T	46973590	2	4	321	1	0	0	0	0	0	0	0	1	6627	564	20	2		2	GPR110	6	46973590	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		46973590	124141477	16	11557										
SMPD2	6610	broad.mit.edu	37	chr6	109762786	109762786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gcaggacttccagtacctgaGacagaagctgtcacctacct	9	13	1	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:109762786G>A	ENST00000258052.3	+	3	538	c.179G>A	c.(178-180)aGa>aAa	p.R60K	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	60					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGTACCTGAGACAGAAGCTG	0.607																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(178-180)aGa>aAa		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							173	155	161					6																	109762786		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109762786G>A	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.179G>A	6.37:g.109762786G>A	ENSP00000258052:p.Arg60Lys		Somatic					p.R60K	NM_003080.2	NP_003071.2	WXS	Illumina GAIIx	Phase_I	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	3	538	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	60					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.179G>A	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695050	0.30052	.	.	ENSG00000135587	ENST00000258052	T	0.29397	1.57	4.87	1.94	0.25998	Endonuclease/exonuclease/phosphatase (2);	0.234553	0.49916	N	0.000127	T	0.03434	0.0099	N	0.04355	-0.22	0.31040	N	0.716408	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.003	T	0.44982	-0.9292	10	0.12430	T	0.62	-5.0742	6.9569	0.24576	0.2911:0.0:0.7089:0.0	.	60;60	B2R8U8;O60906	.;NSMA_HUMAN	K	60	ENSP00000258052:R60K	ENSP00000258052:R60K	R	+	2	0	SMPD2	109869479	0.886000	0.30341	0.945000	0.38365	0.993000	0.82548	1.217000	0.32455	0.280000	0.22209	0.655000	0.94253	AGA		0.607	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			35	42	35	42	---	---	---	---	A	109762786	G	A	109762786	3	1	321	1	0	0	0	0	1	0	0	0	14805	942	33	2	189	2	SMPD2	6	109762786	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	62789196	109762786	61352281	17	11558										
KIF25	3834	broad.mit.edu	37	chr6	168440860	168440860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ggtctcacctgataattacgGtgactctaaccacagcctcc	7	14	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:168440860G>A	ENST00000443060.2	+	7	1001	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	204	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)			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)		GATAATTACGGTGACTCTAAC	0.507																																						ENST00000443060.2																			0				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.(610-612)Gtg>Atg		kinesin family member 25							73	62	66					6																	168440860		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440860G>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.610G>A	6.37:g.168440860G>A	ENSP00000388878:p.Val204Met		Somatic				KIF25_ENST00000351261.3_Missense_Mutation_p.V204M|KIF25_ENST00000354419.2_Missense_Mutation_p.V204M	p.V204M			WXS	Illumina GAIIx	Phase_I	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)	7	1001	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	204			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.610G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922712	0.33908	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.77098	-1.07;-1.07;-1.07	4.09	0.844	0.18943	Kinesin, motor domain (5);	1.000060	0.08071	N	0.999875	T	0.69441	0.3111	L	0.38531	1.155	0.09310	N	1	P;D	0.69078	0.858;0.997	P;D	0.66196	0.491;0.942	T	0.57510	-0.7799	10	0.87932	D	0	-24.803	5.748	0.18130	0.1153:0.3822:0.5026:0.0	.	204;204	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	M	204	ENSP00000388878:V204M;ENSP00000346401:V204M;ENSP00000252688:V204M	ENSP00000252688:V204M	V	+	1	0	KIF25	168183709	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	0.049000	0.14099	0.673000	0.31224	0.411000	0.27672	GTG		0.507	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			11	18	11	18	---	---	---	---	A	168440860	G	A	168440860	3	1	321	1	0	0	0	0	1	0	0	0	8293	1261	44	2	628	2	KIF25	6	168440860	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	58678074	168440860	2674207	18	11559										
CHST12	55501	broad.mit.edu	37	chr7	2473422	2473422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ggaggaggactggttcgccaAgatccccctggcctggaggc	16	12	0	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2473422A>G	ENST00000258711.6	+	2	1283	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	383					carbohydrate biosynthetic process (GO:0016051)|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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGTTCGCCAAGATCCCCCTG	0.627																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1147-1149)aAg>aGg		carbohydrate (chondroitin 4) sulfotransferase 12							47	51	50					7																	2473422		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473422A>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1148A>G	7.37:g.2473422A>G	ENSP00000258711:p.Lys383Arg		Somatic					p.K383R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	WXS	Illumina GAIIx	Phase_I	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1283	+		Ovarian(82;0.0253)	383					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.1148A>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134670	0.37630	.	.	ENSG00000136213	ENST00000258711	T	0.72835	-0.69	5.15	0.369	0.16151	.	2.679520	0.01667	N	0.025437	T	0.60457	0.2270	L	0.34521	1.04	0.20307	N	0.999917	B	0.12013	0.005	B	0.14023	0.01	T	0.38200	-0.9672	10	0.33940	T	0.23	-24.3429	6.7016	0.23229	0.6196:0.2889:0.0915:0.0	.	383	Q9NRB3	CHSTC_HUMAN	R	383	ENSP00000258711:K383R	ENSP00000258711:K383R	K	+	2	0	CHST12	2439948	0.948000	0.32251	0.000000	0.03702	0.983000	0.72400	3.420000	0.52735	-0.045000	0.13468	0.459000	0.35465	AAG		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		28	27	28	27	---	---	---	---	G	2473422	A	G	2473422	3	3	321	1	0	0	0	0	1	0	0	0	3400	72	3	2	1150	2	CHST12	7	2473422	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08		2473422	156665241	19	11560										
IFNA16	3449	broad.mit.edu	37	chr9	21217216	21217216	+	Frame_Shift_Del	DEL	T	T	-													0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ccctcctattacccaggctgTgagtctgaggcagatcacag							TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr9:21217216delT	ENST00000380216.1	-	1	94	c.89delA	c.(88-90)cacfs	p.H30fs		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					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)		ACCCAGGCTGTGAGTCTGAGG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(88-90)cacfs		interferon, alpha 16							95	95	95					9																	21217216		2203	4300	6503	SO:0001589	frameshift_variant	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.chr9:21217216delT		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.89delA	9.37:g.21217216delT	ENSP00000369564:p.His30fs		Somatic					p.H30fs	NM_002173.2	NP_002164.1	WXS	Illumina GAIIx	Phase_I	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	94	-			30					Q5VV12	Frame_Shift_Del	DEL	ENST00000380216.1	37	c.89delA	CCDS34996.1																																																																																				0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		42	100	42	100	---	---	---	---	-	21217216	T	-	21217216	7	5	321	1	0	1	0	1	0	0	0	0	7535	1696	59	0	484	0	IFNA16	9	21217216	Frame_Shift_Del	DEL	T	TCGA-YL-A8SL-01B-21D-A377-08		21217216	119996215	20	11561										
IDE	3416	broad.mit.edu	37	chr10	94269859	94269859	+	Frame_Shift_Del	DEL	T	T	-													0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gaaattctggcaatggaacaTttttgttctctacttcagaa							TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr10:94269859delT	ENST00000265986.6	-	6	901	c.845delA	c.(844-846)aatfs	p.N282fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	282					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)"	CAATGGAACATTTTTGTTCTC	0.318																																						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.(844-846)aatfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						137	143	141					10																	94269859		2203	4299	6502	SO:0001589	frameshift_variant	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.chr10:94269859delT	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.845delA	10.37:g.94269859delT	ENSP00000265986:p.Asn282fs		Somatic					p.N282fs	NM_004969.3	NP_004960.2	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			6	901	-			282					B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.845delA	CCDS7421.1																																																																																				0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		13	62	13	62	---	---	---	---	-	94269859	T	-	94269859	7	5	321	1	0	1	0	1	0	0	0	0	7493	1493	52	0	2294	0	IDE	10	94269859	Frame_Shift_Del	DEL	T	TCGA-YL-A8SL-01B-21D-A377-08		94269859	41264888	21	11562										
ARHGAP20	57569	broad.mit.edu	37	chr11	110479773	110479773	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	actggtaatctctctcagagCccttagagataaaagagtta	8	8	2	3			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:110479773C>T	ENST00000260283.4	-	9	994	c.710G>A	c.(709-711)gGc>gAc	p.G237D	ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	237	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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(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)		TCTCTCAGAGCCCTTAGAGAT	0.373																																						ENST00000260283.4																			0				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.(709-711)gGc>gAc		Rho GTPase activating protein 20							102	113	110					11																	110479773		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110479773C>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.709-1G>A	11.37:g.110479773C>T			Somatic				ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D	p.G237D	NM_020809.3	NP_065860.2	WXS	Illumina GAIIx	Phase_I	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)	9	994	-		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)	237			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Splice_Site	SNP	ENST00000260283.4	37	c.710G>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961773	0.74016	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.76	5.76	0.90799	Ras-association (2);	0.044086	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72924	-0.4144	10	0.36615	T	0.2	.	19.9345	0.97131	0.0:1.0:0.0:0.0	.	237;214	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	237;211;214;201;211;201	ENSP00000260283:G237D;ENSP00000349660:G211D;ENSP00000432076:G214D;ENSP00000436319:G201D;ENSP00000436522:G211D;ENSP00000431399:G201D	ENSP00000260283:G237D	G	-	2	0	ARHGAP20	109984983	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	4.939000	0.63526	2.882000	0.98803	0.655000	0.94253	GGC		0.373	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Missense_Mutation	51	65	51	65	---	---	---	---	T	110479773	C	T	110479773	5	4	321	1	0	0	0	0	0	0	1	0	870	753	26	2	2897	2	ARHGAP20	11	110479773	Splice_Site	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		110479773	24526743	22	11563										
POTEG	404785	broad.mit.edu	37	chr14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cccctgctgcagggggagcgGcaagagcaaagtgggccctt	16	12	0	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348	379	369					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp		Somatic					p.G113D	NM_001005356.2	NP_001005356.1	WXS	Illumina GAIIx	Phase_I	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	609	5	609	---	---	---	---	A	19553754	G	A	19553754	3	1	321	1	0	0	0	0	1	0	0	0	12266	1203	42	2	340	2	POTEG	14	19553754	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		19553754	87795786	23	11564										
OR4L1	122742	broad.mit.edu	37	chr14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gatactttcatggataattgGttttttacactccataagcc	6	8	1	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		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)		TGGATAATTGGTTTTTTACAC	0.403																																						ENST00000315683.1																			1	Substitution - Missense(1)	p.G152V(1)	large_intestine(1)	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.(454-456)gGt>gTt		olfactory receptor, family 4, subfamily L, member 1							143	134	137					14																	20528658		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528658G>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.455G>T	14.37:g.20528658G>T	ENSP00000319217:p.Gly152Val		Somatic					p.G152V	NM_001004717.1	NP_001004717.1	WXS	Illumina GAIIx	Phase_I	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	455	+	all_cancers(95;0.00108)		152					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.455G>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355282	0.24512	.	.	ENSG00000176246	ENST00000315683	T	0.39056	1.1	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.73024	0.3534	H	0.94847	3.59	0.21256	N	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.87932	D	0	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	152	Q8NH43	OR4L1_HUMAN	V	152	ENSP00000319217:G152V	ENSP00000319217:G152V	G	+	2	0	OR4L1	19598498	0.996000	0.38824	0.615000	0.29064	0.091000	0.18340	4.483000	0.60264	2.423000	0.82170	0.650000	0.86243	GGT		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			48	34	48	34	---	---	---	---	T	20528658	G	T	20528658	3	4	321	1	0	0	0	0	1	0	0	0	11074	1261	44	3	457	3	OR4L1	14	20528658	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	974904	20528658	86820882	24	11565										
CSNK1G1	53944	broad.mit.edu	37	chr15	64464144	64464144	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cactggtcacttgtggcgctGagcagtcttcttccttttcc	9	13	3	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:64464144G>A	ENST00000303052.7	-	12	1678	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CSNK1G1_ENST00000607537.1_Intron	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	419					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						TTGTGGCGCTGAGCAGTCTTC	0.547																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(1255-1257)Cag>Tag		casein kinase 1, gamma 1							110	117	115					15																	64464144		2054	4207	6261	SO:0001587	stop_gained	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64464144G>A	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.1255C>T	15.37:g.64464144G>A	ENSP00000305777:p.Gln419*		Somatic				CSNK1G1_ENST00000607537.1_Intron	p.Q419*	NM_022048.3	NP_071331.2	WXS	Illumina GAIIx	Phase_I	Q9HCP0	KC1G1_HUMAN			12	1678	-			419					Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	c.1255C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	38	7.081683	0.98051	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	.	.	.	5.66	5.66	0.87406	.	0.422190	0.27730	N	0.018086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	419;375	.	ENSP00000305777:Q419X	Q	-	1	0	CSNK1G1	62251197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.278000	0.72614	2.661000	0.90470	0.655000	0.94253	CAG		0.547	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		38	68	38	68	---	---	---	---	A	64464144	G	A	64464144	4	1	321	1	0	0	0	0	0	1	0	0	3954	1299	45	2	17	2	CSNK1G1	15	64464144	Nonsense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		64464144	38067248	25	11566										
RBL2	5934	broad.mit.edu	37	chr16	53487463	53487463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	acatgatggcctagttttggAagcaaaggggataaaggaac	13	5	0	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:53487463A>G	ENST00000262133.6	+	6	1003	c.866A>G	c.(865-867)gAa>gGa	p.E289G	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	289					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						CTAGTTTTGGAAGCAAAGGGG	0.358																																						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.(865-867)gAa>gGa		retinoblastoma-like 2 (p130)							112	114	114					16																	53487463		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.chr16:53487463A>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.866A>G	16.37:g.53487463A>G	ENSP00000262133:p.Glu289Gly		Somatic				RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G	p.E289G	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	Q08999	RBL2_HUMAN			6	1003	+			289					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.866A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449887	0.63290	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.91945	-2.94;-2.71;-2.27	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.85462	2.755	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.991;1.0;0.994	D	0.96843	0.9619	10	0.87932	D	0	-16.3863	14.5267	0.67894	1.0:0.0:0.0:0.0	.	73;289;289	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	G	289;215;73	ENSP00000262133:E289G;ENSP00000443744:E215G;ENSP00000444685:E73G	ENSP00000262133:E289G	E	+	2	0	RBL2	52044964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	1.815000	0.52974	0.402000	0.26972	GAA		0.358	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		19	76	19	76	---	---	---	---	G	53487463	A	G	53487463	3	3	321	1	0	0	0	0	1	0	0	0	13110	246	9	2	888	2	RBL2	16	53487463	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08		53487463	36867290	26	11567										
PRSS54	221191	broad.mit.edu	37	chr16	58314536	58314536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ttggatgtgatccatttgctGtagtcttccaccttggtgta	10	8	1	1	rs367759301		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:58314536G>A	ENST00000219301.4	-	7	1174	c.780C>T	c.(778-780)taC>taT	p.Y260Y	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATTTGCTGTAGTCTTCCA	0.547													G|||	1	0.000199681	0	0	5008	,	,		18386	0.001		0	False		,,,				2504	0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(778-780)taC>taT		protease, serine, 54		G	,,	0,4396		0,0,2198	67	67	67		780,,	2.8	1	16		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	260/396,,	58314536	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314536G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.780C>T	16.37:g.58314536G>A			Somatic				PRSS54_ENST00000567164.1_Silent_p.Y260Y|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR	p.Y260Y	NM_001080492.1	NP_001073961.1	WXS	Illumina GAIIx	Phase_I	Q6PEW0	PRS54_HUMAN			7	1174	-			260			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.780C>T	CCDS32463.1																																																																																				0.547	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		15	11	15	11	---	---	---	---	A	58314536	G	A	58314536	2	1	321	1	0	0	0	0	0	0	0	1	12633	1372	48	2		2	PRSS54	16	58314536	Silent	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	4827073	58314536	32040217	27	11568										
C17orf48	56985	broad.mit.edu	37	chr17	10614356	10614356	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	acagctccagacagccaagcCtttggcacagttcatgtcta	8	13	2	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:10614356C>G	ENST00000379774.4	+	4	1015	c.924C>G	c.(922-924)gcC>gcG	p.A308A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	308							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ACAGCCAAGCCTTTGGCACAG	0.438																																						ENST00000379774.4																			0											c.(922-924)gcC>gcG		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							129	120	123					17																	10614356		2203	4300	6503	SO:0001819	synonymous_variant	56985							g.chr17:10614356C>G	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.924C>G	17.37:g.10614356C>G			Somatic				ADPRM_ENST00000609540.1_3'UTR	p.A308A	NM_020233.4	NP_064618.3	WXS	Illumina GAIIx	Phase_I					4	1015	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.924C>G	CCDS11159.2																																																																																				0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		25	20	25	20	---	---	---	---	G	10614356	C	G	10614356	2	3	321	1	0	0	0	0	0	0	0	1	1859	668	24	4		4	C17orf48	17	10614356	Silent	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		10614356	70580854	28	11569										
SLC16A6	9120	broad.mit.edu	37	chr17	66274395	66274395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	aacagctaccgcccagccccAtcctccatcaggcacttcag	6	19	2	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:66274395A>G	ENST00000327268.4	-	3	231	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	23					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)	GCCCAGCCCCATCCTCCATCA	0.378																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(67-69)Tgg>Cgg		solute carrier family 16, member 6	Pyruvic acid(DB00119)						91	90	90					17																	66274395		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66274395A>G	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.67T>C	17.37:g.66274395A>G	ENSP00000319991:p.Trp23Arg		Somatic				ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	p.W23R	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	231	-	all_cancers(12;1.24e-09)		23					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.67T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704204	0.30232	.	.	ENSG00000108932	ENST00000327268	T	0.56444	0.46	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77864	-0.2429	10	0.87932	D	0	.	14.4929	0.67665	1.0:0.0:0.0:0.0	.	23	O15403	MOT7_HUMAN	R	23	ENSP00000319991:W23R	ENSP00000319991:W23R	W	-	1	0	SLC16A6	63785990	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.641000	0.91032	2.081000	0.62600	0.533000	0.62120	TGG		0.378	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		29	38	29	38	---	---	---	---	G	66274395	A	G	66274395	3	3	321	1	0	0	0	0	1	0	0	0	14412	217	8	2	1524	2	SLC16A6	17	66274395	Missense_Mutation	SNP	A	TCGA-YL-A8SL-01B-21D-A377-08	55660039	66274395	14920815	29	11570										
GPR32	2854	broad.mit.edu	37	chr19	51274218	51274218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gcaaactctacatcacctttGtgttcctcagctactttgcc	5	14	3	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51274218G>T	ENST00000270590.4	+	1	498	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			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)		CATCACCTTTGTGTTCCTCAG	0.537																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(361-363)Gtg>Ttg		G protein-coupled receptor 32							190	179	183					19																	51274218		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274218G>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.361G>T	19.37:g.51274218G>T	ENSP00000270590:p.Val121Leu		Somatic					p.V121L	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	498	+		all_neural(266;0.131)	121					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.361G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190597	0.06299	.	.	ENSG00000142511	ENST00000270590	T	0.36520	1.25	2.73	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19127	0.0459	N	0.13327	0.33	0.09310	N	1	B	0.29766	0.256	B	0.37943	0.261	T	0.33163	-0.9879	9	0.30854	T	0.27	.	1.4546	0.02382	0.1789:0.2608:0.3925:0.1678	.	121	O75388	GPR32_HUMAN	L	121	ENSP00000270590:V121L	ENSP00000270590:V121L	V	+	1	0	GPR32	55966030	0.000000	0.05858	0.163000	0.22734	0.313000	0.28021	-0.126000	0.10563	-0.064000	0.13043	0.313000	0.20887	GTG		0.537	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			36	27	36	27	---	---	---	---	T	51274218	G	T	51274218	3	4	321	1	0	0	0	0	1	0	0	0	6688	1377	48	3	363	3	GPR32	19	51274218	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		51274218	7854765	30	11571										
LILRB1	10859	broad.mit.edu	37	chr19	55143638	55143638	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	ctatgcttatgactcgaactCtccctatgagtggtctctac	7	12	2	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:55143638C>T	ENST00000396331.1	+	6	968	c.611C>T	c.(610-612)tCt>tTt	p.S204F	LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	204	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)		GACTCGAACTCTCCCTATGAG	0.602										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.(610-612)tCt>tTt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							159	156	157					19																	55143638		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143638C>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.611C>T	19.37:g.55143638C>T	ENSP00000379622:p.Ser204Phe	HNSCC(37;0.09)	Somatic				LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	p.S204F	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	968	+			204			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.611C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919507	0.02396	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;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;1.86;1.86	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	3.116130	0.00941	N	0.002821	T	0.28167	0.0695	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.18741	0.03;0.002;0.005;0.008;0.002	B;B;B;B;B	0.28465	0.09;0.01;0.007;0.025;0.003	T	0.30707	-0.9969	10	0.62326	D	0.03	.	4.3027	0.10932	0.3303:0.4937:0.1759:0.0	.	204;204;204;204;204	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	204;204;204;204;204;204;204;204;240;204;204	ENSP00000379614:S204F;ENSP00000391514:S204F;ENSP00000409968:S204F;ENSP00000379622:S204F;ENSP00000379618:S204F;ENSP00000315997:S204F;ENSP00000405243:S204F;ENSP00000379623:S204F;ENSP00000395004:S240F;ENSP00000379610:S204F;ENSP00000379608:S204F	ENSP00000315997:S204F	S	+	2	0	LILRB1	59835450	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.281000	0.00528	-1.184000	0.02720	-1.296000	0.01341	TCT		0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			14	60	14	60	---	---	---	---	T	55143638	C	T	55143638	3	4	321	1	0	0	0	0	1	0	0	0	8790	913	32	2	625	2	LILRB1	19	55143638	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08	3869420	55143638	3985345	31	11572										
NRIP1	8204	broad.mit.edu	37	chr21	16339649	16339649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	acttgctgcttgatttgcatTttgcgtttttaaagcgtgtt	9	6	0	1			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:16339649T>C	ENST00000400202.1	-	3	1577	c.865A>G	c.(865-867)Aat>Gat	p.N289D	NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	289	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)		TGATTTGCATTTTGCGTTTTT	0.448																																						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.(865-867)Aat>Gat		nuclear receptor interacting protein 1							108	101	103					21																	16339649		2203	4300	6503	SO:0001583	missense	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.chr21:16339649T>C	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.865A>G	21.37:g.16339649T>C	ENSP00000383063:p.Asn289Asp		Somatic				NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D	p.N289D			WXS	Illumina GAIIx	Phase_I	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	1577	-			289			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.865A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099552	0.37048	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.99	5.99	0.97316	.	0.331890	0.31976	N	0.006778	T	0.12050	0.0293	L	0.50333	1.59	0.32659	N	0.518337	P	0.39480	0.675	B	0.39258	0.295	T	0.04053	-1.0981	10	0.49607	T	0.09	-16.1196	16.4886	0.84191	0.0:0.0:0.0:1.0	.	289	P48552	NRIP1_HUMAN	D	289	ENSP00000383060:N289D;ENSP00000383063:N289D;ENSP00000327213:N289D	ENSP00000327213:N289D	N	-	1	0	NRIP1	15261520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.209000	0.58493	2.294000	0.77228	0.528000	0.53228	AAT		0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		32	54	32	54	---	---	---	---	C	16339649	T	C	16339649	3	2	321	1	0	0	0	0	1	0	0	0	10652	1841	64	2	2615	2	NRIP1	21	16339649	Missense_Mutation	SNP	T	TCGA-YL-A8SL-01B-21D-A377-08		16339649	31790246	32	11573										
PRDM15	63977	broad.mit.edu	37	chr21	43230589	43230589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	cgcacagctggcagctctgcGcctccaccttgtcgtgtgtg	12	15	1	0			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:43230589G>A	ENST00000269844.3	-	28	3781	c.3671C>T	c.(3670-3672)gCg>gTg	p.A1224V	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A915V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1224					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(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTCTGCGCCTCCACCTT	0.627																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2743-2745)gCg>gTg		PR domain containing 15							102	65	77					21																	43230589		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230589G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3671C>T	21.37:g.43230589G>A	ENSP00000269844:p.Ala1224Val		Somatic				PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000470586.1_5'UTR	p.A915V	NM_001282934.1	NP_001269863.1	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			22	2845	-			1224					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2744C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901726	0.92035	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08807	4.75;4.75;4.75;4.75;3.05	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18676	0.0448	L	0.31476	0.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.986;0.996	T	0.02885	-1.1098	9	0.87932	D	0	-18.5854	15.3339	0.74234	0.0:0.0:1.0:0.0	.	1224;915;895	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	915;895;878;858;1224	ENSP00000408592:A915V;ENSP00000381556:A895V;ENSP00000444044:A878V;ENSP00000390245:A858V;ENSP00000269844:A1224V	ENSP00000269844:A1224V	A	-	2	0	PRDM15	42103658	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	9.491000	0.97954	1.836000	0.53414	0.306000	0.20318	GCG		0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	29	4	29	---	---	---	---	A	43230589	G	A	43230589	3	1	321	1	0	0	0	0	1	0	0	0	12456	1087	38	2	868	2	PRDM15	21	43230589	Missense_Mutation	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08	26890940	43230589	4899306	33	11574										
PI4KA	5297	broad.mit.edu	37	chr22	21097023	21097023	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	aggtcagacatctggcctgtGgtgcctgagaaccgaatcat	12	10	3	2			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:21097023G>T	ENST00000572273.1	-	31	3542	c.3312C>A	c.(3310-3312)acC>acA	p.T1104T	PI4KA_ENST00000255882.6_Silent_p.T1162T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					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)			TCTGGCCTGTGGTGCCTGAGA	0.478																																					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.(3484-3486)acC>acA		phosphatidylinositol 4-kinase, catalytic, alpha							243	188	207					22																	21097023		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21097023G>T	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.3312C>A	22.37:g.21097023G>T			Somatic				PI4KA_ENST00000572273.1_Silent_p.T1104T	p.T1162T	NM_058004.3	NP_477352.3	WXS	Illumina GAIIx	Phase_I	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		31	3572	-	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)	1104					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.3486C>A																																																																																					0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	76	15	76	---	---	---	---	T	21097023	G	T	21097023	2	4	321	1	0	0	0	0	0	0	0	1	11873	1335	47	1		1	PI4KA	22	21097023	Silent	SNP	G	TCGA-YL-A8SL-01B-21D-A377-08		21097023	30207543	34	11575										
USP9X	8239	broad.mit.edu	37	chrX	41082490	41082490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	5	0.968713181754189	1.91934505761067	1.63144329896907	2.00793021411578	0.242424242424242	1	0	gtgtggcagagaagacacagCttctgaaattgagtgtacct	12	7	1	4			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chrX:41082490C>T	ENST00000324545.8	+	39	7219	c.6586C>T	c.(6586-6588)Ctt>Ttt	p.L2196F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2196					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						GAAGACACAGCTTCTGAAATT	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8																			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.(6586-6588)Ctt>Ttt		ubiquitin specific peptidase 9, X-linked							130	118	122					X																	41082490		2196	4300	6496	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:41082490C>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.6586C>T	X.37:g.41082490C>T	ENSP00000316357:p.Leu2196Phe		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			39	7219	+								O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6586C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931674	0.92389	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.32988	1.43;1.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65191	-0.6228	10	0.66056	D	0.02	.	18.483	0.90819	0.0:1.0:0.0:0.0	.	2196;2196	Q93008-1;Q93008	.;USP9X_HUMAN	F	2196	ENSP00000367558:L2196F;ENSP00000316357:L2196F	ENSP00000316357:L2196F	L	+	1	0	USP9X	40967434	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.629000	0.61290	2.307000	0.77673	0.594000	0.82650	CTT		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		34	5	34	5	---	---	---	---	T	41082490	C	T	41082490	3	4	321	1	0	0	0	0	1	0	0	0	17087	797	28	2	6736	2	USP9X	23	41082490	Missense_Mutation	SNP	C	TCGA-YL-A8SL-01B-21D-A377-08		41082490	114188070	35	11576										
DNAJB4	11080	broad.mit.edu	37	chr1	78478968	78478968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccaagagacaggaattctGtggggccatcccgcctcaaa	10	12	2	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:78478968G>T	ENST00000370763.5	+	2	702	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	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	149					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						CAGGAATTCTGTGGGGCCATC	0.413																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(445-447)Gtg>Ttg		DnaJ (Hsp40) homolog, subfamily B, member 4							123	123	123					1																	78478968		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478968G>T	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.445G>T	1.37:g.78478968G>T	ENSP00000359799:p.Val149Leu		Somatic				DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	p.V149L	NM_007034.3	NP_008965.2	WXS	Illumina GAIIx	Phase_I	Q9UDY4	DNJB4_HUMAN			2	702	+			149					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.445G>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264017	0.39995	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.62941	-0.01;0.39	5.46	5.46	0.80206	.	0.622463	0.17026	N	0.189934	T	0.37999	0.1024	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21245	-1.0251	10	0.19590	T	0.45	.	19.3687	0.94475	0.0:0.0:1.0:0.0	.	149	Q9UDY4	DNJB4_HUMAN	L	149	ENSP00000399494:V149L;ENSP00000359799:V149L	ENSP00000359799:V149L	V	+	1	0	DNAJB4	78251556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.331000	0.79192	2.546000	0.85860	0.644000	0.83932	GTG		0.413	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			20	68	20	68	---	---	---	---	T	78478968	G	T	78478968	3	4	322	1	0	0	0	0	1	0	0	0	4622	1377	48	3	451	3	DNAJB4	1	78478968	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		78478968	170771653	1	11577										
HSD3B1	3283	broad.mit.edu	37	chr1	120056908	120056908	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatccgaggacagttctaCtatatctcagatgacacgcc	8	12	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:120056908C>A	ENST00000369413.3	+	4	907	c.762C>A	c.(760-762)taC>taA	p.Y254*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.Y256*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	254					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)	GACAGTTCTACTATATCTCAG	0.522																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(766-768)taC>taA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						69	73	72					1																	120056908		2203	4300	6503	SO:0001587	stop_gained	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.chr1:120056908C>A	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.762C>A	1.37:g.120056908C>A	ENSP00000358421:p.Tyr254*		Somatic				HSD3B1_ENST00000369413.3_Nonsense_Mutation_p.Y254*|HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.Y254*	p.Y256*	NM_000862.2	NP_000853.1	WXS	Illumina GAIIx	Phase_I	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	907	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	254					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.768C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716840	0.48622	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	-2.17	0.07059	.	0.059560	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1299	8.547	0.33429	0.0:0.3017:0.0:0.6983	.	.	.	.	X	254;256;254	.	ENSP00000235547:Y256X	Y	+	3	2	HSD3B1	119858431	0.987000	0.35691	0.990000	0.47175	0.312000	0.27988	0.266000	0.18534	-0.371000	0.08004	-0.657000	0.03884	TAC		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		18	62	18	62	---	---	---	---	A	120056908	C	A	120056908	4	1	322	1	0	0	0	0	0	1	0	0	7390	576	20	3	772	3	HSD3B1	1	120056908	Nonsense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	41577940	120056908	129193713	2	11578										
TARS2	80222	broad.mit.edu	37	chr1	150468986	150468986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccttatggaggtcttcagGggccccagagacactgcaga	12	11	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:150468986G>T	ENST00000369064.3	+	8	837	c.803G>T	c.(802-804)gGg>gTg	p.G268V	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)	268					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)	AGGTCTTCAGGGGCCCCAGAG	0.517																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(802-804)gGg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						115	110	112					1																	150468986		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150468986G>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.803G>T	1.37:g.150468986G>T	ENSP00000358060:p.Gly268Val		Somatic				TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	p.G268V	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	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)		8	837	+	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)		268					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.803G>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723472	0.30593	.	.	ENSG00000143374	ENST00000369064	.	.	.	5.02	0.831	0.18860	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.831895	0.11159	N	0.593226	T	0.04227	0.0117	N	0.05487	-0.04	0.09310	N	0.999992	B	0.34103	0.437	B	0.33846	0.171	T	0.32955	-0.9887	9	0.42905	T	0.14	-3.134	1.7989	0.03067	0.221:0.2524:0.3972:0.1295	.	268	Q9BW92	SYTM_HUMAN	V	268	.	ENSP00000358060:G268V	G	+	2	0	TARS2	148735610	0.668000	0.27493	0.000000	0.03702	0.947000	0.59692	1.230000	0.32612	-0.003000	0.14444	0.655000	0.94253	GGG		0.517	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		7	102	7	102	---	---	---	---	T	150468986	G	T	150468986	3	4	322	1	0	0	0	0	1	0	0	0	15557	1232	43	1	833	1	TARS2	1	150468986	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	30412078	150468986	98781635	3	11579										
CLK2	1196	broad.mit.edu	37	chr1	155239353	155239353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggctgctgcgctggctgcGgtaactgctgttctcccgct	13	15	1	0	rs139555196		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:155239353G>A	ENST00000368361.4	-	3	640	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	CLK2_ENST00000355560.4_Missense_Mutation_p.R108C|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000361168.5_Missense_Mutation_p.R109C			P49760	CLK2_HUMAN	CDC-like kinase 2	109					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)	p.R109S(1)		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)			CGCTGGCTGCGGTAACTGCTG	0.592								Other conserved DNA damage response genes																														ENST00000368361.4																			1	Substitution - Missense(1)	p.R109S(1)	lung(1)	endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(325-327)Cgc>Tgc	Other conserved DNA damage response genes	CDC-like kinase 2		G	CYS/ARG	1,4405		0,1,2202	111	103	106		325	4.6	1	1	dbSNP_134	106	0,8600		0,0,4300	no	missense	CLK2	NM_003993.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	109/499	155239353	1,13005	2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155239353G>A	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.325C>T	1.37:g.155239353G>A	ENSP00000357345:p.Arg109Cys		Somatic				CLK2_ENST00000361168.5_Missense_Mutation_p.R109C|CLK2_ENST00000536801.1_Missense_Mutation_p.R109C|CLK2_ENST00000355560.4_Missense_Mutation_p.R108C	p.R109C			WXS	Illumina GAIIx	Phase_I	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)		3	640	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		109					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.325C>T		.	.	.	.	.	.	.	.	.	.	.	14.81	2.645084	0.47258	2.27E-4	0.0	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.56776	0.47;0.46;0.44;0.46	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	B;P	0.50754	0.446;0.649	T	0.59016	-0.7533	10	0.72032	D	0.01	.	11.5254	0.50576	0.0:0.0:0.8209:0.1791	.	109;109	P49760;P49760-3	CLK2_HUMAN;.	C	109;109;108;109	ENSP00000354856:R109C;ENSP00000357345:R109C;ENSP00000347759:R108C;ENSP00000441023:R109C	ENSP00000347759:R108C	R	-	1	0	CLK2	153505977	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	4.893000	0.63199	2.424000	0.82194	0.650000	0.86243	CGC		0.592	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	103	4	103	---	---	---	---	A	155239353	G	A	155239353	3	1	322	1	0	0	0	0	1	0	0	0	3537	1116	39	2	1215	2	CLK2	1	155239353	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	4770367	155239353	94011268	4	11580										
TPR	7175	broad.mit.edu	37	chr1	186326600	186326600	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaagggccactaagagacgTtgattttgttgttgaagctc	11	7	0	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:186326600T>C	ENST00000367478.4	-	14	1949	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	551					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)		CTAAGAGACGTTGATTTTGTT	0.388			T	NTRK1	papillary thyroid																																	ENST00000367478.4				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.(1651-1653)caA>caG		translocated promoter region, nuclear basket protein							157	143	147					1																	186326600		1845	4088	5933	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.chr1:186326600T>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.1653A>G	1.37:g.186326600T>C			Somatic				TPR_ENST00000474852.1_5'UTR	p.Q551Q	NM_003292.2	NP_003283.2	WXS	Illumina GAIIx	Phase_I	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	14	1949	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.1653A>G	CCDS41446.1																																																																																				0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		11	46	11	46	---	---	---	---	C	186326600	T	C	186326600	2	2	322	1	0	0	0	0	0	0	0	1	16413	1722	60	2		2	TPR	1	186326600	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	31087247	186326600	62924021	5	11581										
SIPA1L2	57568	broad.mit.edu	37	chr1	232649718	232649718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctgggcacttccaagacGgagacacctgcatttgtgca	10	12	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr1:232649718G>A	ENST00000366630.1	-	2	1726	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	SIPA1L2_ENST00000262861.4_Silent_p.S456S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	456					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.S456S(1)		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)				CTTCCAAGACGGAGACACCTG	0.493																																						ENST00000366630.1																			1	Substitution - coding silent(1)	p.S456S(1)	lung(1)	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.(1366-1368)tcC>tcT		signal-induced proliferation-associated 1 like 2							148	144	146					1																	232649718		1971	4164	6135	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649718G>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.1368C>T	1.37:g.232649718G>A			Somatic				SIPA1L2_ENST00000262861.4_Silent_p.S456S	p.S456S			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	1726	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	456					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1368C>T	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	137	4	137	---	---	---	---	A	232649718	G	A	232649718	2	1	322	1	0	0	0	0	0	0	0	1	14330	1103	39	2		2	SIPA1L2	1	232649718	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	46323118	232649718	16600903	6	11582										
OTOF	9381	broad.mit.edu	37	chr2	26689990	26689990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gaagcgtcccacaatgcgctCctcctcggtggagccatcct	10	16	0	0	rs201493014		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:26689990C>T	ENST00000272371.2	-	35	4465	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K	OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000339598.3_Missense_Mutation_p.E680K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1447					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)					ACAATGCGCTCCTCCTCGGTG	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		14388	0		0	False		,,,				2504	0				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.(4339-4341)Gag>Aag		otoferlin							58	53	54					2																	26689990		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.chr2:26689990C>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.4339G>A	2.37:g.26689990C>T	ENSP00000272371:p.Glu1447Lys		Somatic				OTOF_ENST00000339598.3_Missense_Mutation_p.E680K|OTOF_ENST00000402415.3_Missense_Mutation_p.E757K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1447K|OTOF_ENST00000338581.6_Missense_Mutation_p.E680K	p.E1447K	NM_194248.2	NP_919224.1	WXS	Illumina GAIIx	Phase_I	Q9HC10	OTOF_HUMAN			35	4465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1447					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4339G>A	CCDS1725.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.12	3.766700	0.69878	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79940	-1.06;-1.06;-1.06;-1.32;-1.32	4.42	4.42	0.53409	.	0.047076	0.85682	D	0.000000	T	0.74168	0.3681	L	0.47716	1.5	0.58432	D	0.999998	B;B;B;B	0.19073	0.017;0.014;0.029;0.033	B;B;B;B	0.26614	0.012;0.02;0.027;0.071	T	0.68368	-0.5427	10	0.06757	T	0.87	-33.9162	16.9753	0.86311	0.0:1.0:0.0:0.0	.	1447;680;757;680	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	K	680;680;757;1447;1447	ENSP00000345137:E680K;ENSP00000344521:E680K;ENSP00000383906:E757K;ENSP00000272371:E1447K;ENSP00000385255:E1447K	ENSP00000272371:E1447K	E	-	1	0	OTOF	26543494	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.749000	0.85096	2.167000	0.68274	0.561000	0.74099	GAG		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	29	9	29	---	---	---	---	T	26689990	C	T	26689990	3	4	322	1	0	0	0	0	1	0	0	0	11303	864	30	2	1887	2	OTOF	2	26689990	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		26689990	216509383	7	11583										
TLK1	9874	broad.mit.edu	37	chr2	171902685	171902685	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attttaaatggaggcttacaGttgtggtaaatttggtctaa	10	3	1	0			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:171902685G>C	ENST00000431350.2	-	11	1572	c.1168C>G	c.(1168-1170)Ctg>Gtg	p.L390V	TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V|TLK1_ENST00000442919.2_Splice_Site_p.L342V|TLK1_ENST00000360843.3_Splice_Site_p.L411V			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	390					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						GAGGCTTACAGTTGTGGTAAA	0.333																																						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.(1024-1026)Ctg>Gtg		tousled-like kinase 1							159	152	154					2																	171902685		2203	4300	6503	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.chr2:171902685G>C	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.1169+1C>G	2.37:g.171902685G>C			Somatic				TLK1_ENST00000360843.3_Splice_Site_p.L411V|TLK1_ENST00000431350.2_Splice_Site_p.L390V|TLK1_ENST00000434911.2_Splice_Site_p.L294V|TLK1_ENST00000521943.1_Splice_Site_p.L342V	p.L342V	NM_012290.4	NP_036422.3	WXS	Illumina GAIIx	Phase_I	Q9UKI8	TLK1_HUMAN			11	1639	-			390					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	SNP	ENST00000431350.2	37	c.1024C>G	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825545	0.16749	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62639	0.03;0.01;0.01;0.03;0.02	5.13	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	L	0.41236	1.265	0.50313	D	0.999861	B;D;B	0.62365	0.218;0.991;0.167	B;P;B	0.56751	0.05;0.805;0.024	T	0.55405	-0.8146	10	0.21014	T	0.42	-9.3847	8.9395	0.35720	0.2942:0.0:0.7058:0.0	.	294;411;390	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	V	342;390;411;342;294	ENSP00000402165:L342V;ENSP00000411099:L390V;ENSP00000354089:L411V;ENSP00000428113:L342V;ENSP00000409222:L294V	ENSP00000354089:L411V	L	-	1	2	TLK1	171610931	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.027000	0.41078	1.295000	0.44724	-0.229000	0.12294	CTG		0.333	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Missense_Mutation	4	78	4	78	---	---	---	---	C	171902685	G	C	171902685	5	2	322	1	0	0	0	0	0	0	1	0	15940	1043	36	4	1176	4	TLK1	2	171902685	Splice_Site	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	145212695	171902685	71296688	8	11584										
COL4A4	1286	broad.mit.edu	37	chr2	227924243	227924243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcccgggattcctttctgaCcattcactcctggtgagccg	9	15	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr2:227924243C>T	ENST00000396625.3	-	28	2468	c.2261G>A	c.(2260-2262)gGt>gAt	p.G754D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	754	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)		TCCTTTCTGACCATTCACTCC	0.587																																						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.(2260-2262)gGt>gAt		collagen, type IV, alpha 4							73	78	77					2																	227924243		1829	4076	5905	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924243C>T		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.2261G>A	2.37:g.227924243C>T	ENSP00000379866:p.Gly754Asp		Somatic				COL4A4_ENST00000329662.7_Missense_Mutation_p.G754D	p.G754D	NM_000092.4	NP_000083.3	WXS	Illumina GAIIx	Phase_I	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)	28	2468	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	754			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2261G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877527	0.91664	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99176	-5.52;-5.52	5.99	5.99	0.97316	.	.	.	.	.	D	0.99619	0.9861	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97845	1.0271	9	0.87932	D	0	.	18.2507	0.90002	0.0:1.0:0.0:0.0	.	754	P53420	CO4A4_HUMAN	D	754	ENSP00000379866:G754D;ENSP00000328553:G754D	ENSP00000328553:G754D	G	-	2	0	COL4A4	227632487	1.000000	0.71417	0.981000	0.43875	0.969000	0.65631	5.446000	0.66600	2.840000	0.97914	0.655000	0.94253	GGT		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		19	39	19	39	---	---	---	---	T	227924243	C	T	227924243	3	4	322	1	0	0	0	0	1	0	0	0	3693	507	18	2	2895	2	COL4A4	2	227924243	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	56021558	227924243	15275130	9	11585										
CYP8B1	1582	broad.mit.edu	37	chr3	42916185	42916185	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatgtctccatggcggaacAgatactcctgcccactggac	11	13	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:42916185A>T	ENST00000316161.4	-	1	1448	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	375					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ATGGCGGAACAGATACTCCTG	0.582																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1123-1125)cTg>cAg		cytochrome P450, family 8, subfamily B, polypeptide 1							91	89	89					3																	42916185		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916185A>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1124T>A	3.37:g.42916185A>T	ENSP00000318867:p.Leu375Gln		Somatic				RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L375Q	p.L375Q	NM_004391.2	NP_004382.2	WXS	Illumina GAIIx	Phase_I	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1448	-			375					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1124T>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.889784	0.00527	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01347	4.99;4.99	4.5	-3.15	0.05233	.	0.868719	0.10039	N	0.723678	T	0.00784	0.0026	N	0.16708	0.43	0.09310	N	1	B;B	0.19583	0.037;0.011	B;B	0.22152	0.038;0.023	T	0.48614	-0.9020	10	0.11182	T	0.66	-3.4574	0.9942	0.01463	0.3681:0.2559:0.2391:0.1369	.	375;375	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	375	ENSP00000404499:L375Q;ENSP00000318867:L375Q	ENSP00000318867:L375Q	L	-	2	0	CYP8B1	42891189	0.004000	0.15560	0.001000	0.08648	0.034000	0.12701	0.004000	0.13106	-0.406000	0.07588	0.459000	0.35465	CTG		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		17	45	17	45	---	---	---	---	T	42916185	A	T	42916185	3	4	322	1	0	0	0	0	1	0	0	0	4198	188	7	5	385	5	CYP8B1	3	42916185	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		42916185	155106245	10	11586										
PLCH1	23007	broad.mit.edu	37	chr3	155205833	155205833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacctttccatagatttcaTtgatggttatgtgtacaaat	6	7	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr3:155205833T>C	ENST00000340059.7	-	20	2566	c.2567A>G	c.(2566-2568)aAt>aGt	p.N856S	PLCH1_ENST00000460012.1_Missense_Mutation_p.N838S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	856					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)			ATAGATTTCATTGATGGTTAT	0.338																																						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.(2512-2514)aAt>aGt		phospholipase C, eta 1							129	129	129					3																	155205833		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.chr3:155205833T>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.2567A>G	3.37:g.155205833T>C	ENSP00000345988:p.Asn856Ser		Somatic				PLCH1_ENST00000414191.1_Missense_Mutation_p.N838S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N838S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N856S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N856S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N856S	p.N838S			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		21	2870	-			856					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2513A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873844	0.72180	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.29397	2.08;2.0;1.57;2.0;2.0;2.0	5.18	5.18	0.71444	C2 calcium/lipid-binding domain, CaLB (1);	0.642281	0.17446	N	0.173943	T	0.35770	0.0943	L	0.47190	1.495	0.54753	D	0.99998	P;B;B	0.40302	0.712;0.402;0.078	P;B;B	0.46718	0.525;0.171;0.053	T	0.03922	-1.0992	10	0.15499	T	0.54	.	15.0382	0.71767	0.0:0.0:0.0:1.0	.	838;856;856	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	856;838;856;856;838;838	ENSP00000419100:N856S;ENSP00000417502:N838S;ENSP00000402759:N856S;ENSP00000345988:N856S;ENSP00000335469:N838S;ENSP00000412977:N838S	ENSP00000335469:N838S	N	-	2	0	PLCH1	156688527	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.498000	0.81546	1.947000	0.56498	0.533000	0.62120	AAT		0.338	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		14	25	14	25	---	---	---	---	C	155205833	T	C	155205833	3	2	322	1	0	0	0	0	1	0	0	0	12037	1493	52	2	2545	2	PLCH1	3	155205833	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	112289648	155205833	42816597	11	11587										
G3BP2	9908	broad.mit.edu	37	chr4	76579226	76579226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ggaagaaacagtaccactagGaggcaggtttttactggtca	12	7	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:76579226G>A	ENST00000359707.4	-	8	1551	c.766C>T	c.(766-768)Cct>Tct	p.P256S	G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000502654.1_5'Flank	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	256					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)			GTACCACTAGGAGGCAGGTTT	0.443																																						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.(766-768)Cct>Tct		GTPase activating protein (SH3 domain) binding protein 2							86	84	85					4																	76579226		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.chr4:76579226G>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.766C>T	4.37:g.76579226G>A	ENSP00000352738:p.Pro256Ser		Somatic				G3BP2_ENST00000395719.3_Missense_Mutation_p.P256S|G3BP2_ENST00000357854.3_Intron	p.P256S	NM_203505.2	NP_987101.1	WXS	Illumina GAIIx	Phase_I	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1551	-			256					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.766C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113928	0.77210	.	.	ENSG00000138757	ENST00000395719;ENST00000359707	T;T	0.78816	-1.21;-1.21	5.95	5.95	0.96441	.	0.047834	0.85682	D	0.000000	D	0.82600	0.5072	L	0.60455	1.87	0.80722	D	1	P	0.47910	0.902	P	0.53185	0.72	T	0.76572	-0.2910	10	0.17369	T	0.5	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	256	Q9UN86	G3BP2_HUMAN	S	256	ENSP00000379069:P256S;ENSP00000352738:P256S	ENSP00000352738:P256S	P	-	1	0	G3BP2	76798250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	CCT		0.443	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		3	12	3	12	---	---	---	---	A	76579226	G	A	76579226	3	1	322	1	0	0	0	0	1	0	0	0	6142	1174	41	2	702	2	G3BP2	4	76579226	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		76579226	114575050	12	11588										
SPARCL1	8404	broad.mit.edu	37	chr4	88401672	88401672	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccaggtaaattttcttgaCctgggattaggaaggcagaa	11	6	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr4:88401672C>T	ENST00000282470.6	-	9	2139	c.1669G>A	c.(1669-1671)Gtc>Atc	p.V557I	SPARCL1_ENST00000418378.1_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	557					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)		ATTTTCTTGACCTGGGATTAG	0.398																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1669-1671)Gtc>Atc		SPARC-like 1 (hevin)							84	85	85					4																	88401672		2203	4300	6503	SO:0001630	splice_region_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88401672C>T	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.1669-1G>A	4.37:g.88401672C>T			Somatic				SPARCL1_ENST00000282470.6_Splice_Site_p.V557I|SPARCL1_ENST00000503414.1_Splice_Site_p.V432I	p.V557I	NM_001128310.1	NP_001121782.1	WXS	Illumina GAIIx	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	10	2240	-			557					B4E2Z0|E7ESU2|Q14800	Splice_Site	SNP	ENST00000282470.6	37	c.1669G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789058	0.90367	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.31769	2.04;2.04;1.48	4.92	4.92	0.64577	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.87038	2.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69669	-0.5083	10	0.87932	D	0	-12.3112	17.9858	0.89155	0.0:1.0:0.0:0.0	.	557	Q14515	SPRL1_HUMAN	I	557;557;432;432	ENSP00000282470:V557I;ENSP00000414856:V557I;ENSP00000422903:V432I	ENSP00000282470:V557I	V	-	1	0	SPARCL1	88620696	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.248000	0.78268	2.663000	0.90544	0.585000	0.79938	GTC		0.398	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		Missense_Mutation	20	49	20	49	---	---	---	---	T	88401672	C	T	88401672	5	4	322	1	0	0	0	0	0	0	1	0	14995	521	18	2	337	2	SPARCL1	4	88401672	Splice_Site	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	11822446	88401672	102752604	13	11589										
BYSL	705	broad.mit.edu	37	chr6	41900430	41900430	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgatgtggaagatgttcccAtcaccgtggagtgaggaaaa	14	7	1	2	rs144306191		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:41900430A>T	ENST00000230340.4	+	7	1675	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	434					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)			AGATGTTCCCATCACCGTGGA	0.557																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(1300-1302)Atc>Ttc		bystin-like							51	50	50					6																	41900430		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900430A>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.1300A>T	6.37:g.41900430A>T	ENSP00000230340:p.Ile434Phe		Somatic					p.I434F	NM_004053.3	NP_004044.3	WXS	Illumina GAIIx	Phase_I	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1675	+	Colorectal(47;0.121)		434					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.1300A>T	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	a	14.43	2.533796	0.45073	.	.	ENSG00000112578	ENST00000230340	T	0.32515	1.45	5.13	-4.96	0.03038	.	1.271460	0.05227	N	0.509666	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28744	-1.0034	10	0.20519	T	0.43	-21.4271	8.82	0.35020	0.5654:0.1014:0.3333:0.0	.	434	Q13895	BYST_HUMAN	F	434	ENSP00000230340:I434F	ENSP00000230340:I434F	I	+	1	0	BYSL	42008408	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	0.101000	0.15251	-1.377000	0.02123	0.449000	0.29647	ATC		0.557	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			8	15	8	15	---	---	---	---	T	41900430	A	T	41900430	3	4	322	1	0	0	0	0	1	0	0	0	1576	217	8	5	1326	5	BYSL	6	41900430	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		41900430	129214637	14	11590										
VGLL2	245806	broad.mit.edu	37	chr6	117589488	117589488	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcccagagaaagagcgcccAccagaggcagagtacatcaa	11	12	1	4			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	75					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)		AAGAGCGCCCACCAGAGGCAG	0.577																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(223-225)ccA>ccC		vestigial like 2 (Drosophila)							103	118	113					6																	117589488		2203	4300	6503	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117589488A>C	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.225A>C	6.37:g.117589488A>C			Somatic				VGLL2_ENST00000352536.3_Silent_p.P75P	p.P75P	NM_182645.3	NP_872586.1	WXS	Illumina GAIIx	Phase_I	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	415	+			75					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.225A>C	CCDS5115.1																																																																																				0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		13	102	13	102	---	---	---	---	C	117589488	A	C	117589488	2	2	322	1	0	0	0	0	0	0	0	1	17156	146	6	5		5	VGLL2	6	117589488	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	75689058	117589488	53525579	15	11591										
TAAR2	9287	broad.mit.edu	37	chr6	132939259	132939259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tttctgggcaagatctatttCcatattcagagcaattgaat	7	7	3	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:132939259C>T	ENST00000367931.1	-	2	85	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TAAR2_ENST00000537809.1_5'UTR|TAAR2_ENST00000275191.2_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	29					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)		AGATCTATTTCCATATTCAGA	0.308																																						ENST00000367931.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(85-87)gGa>gAa		trace amine associated receptor 2							57	60	59					6																	132939259		2201	4297	6498	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132939259C>T	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.86G>A	6.37:g.132939259C>T	ENSP00000356908:p.Gly29Glu		Somatic				TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR	p.G29E			WXS	Illumina GAIIx	Phase_I	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	85	-	Breast(56;0.135)		29					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.86G>A	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784306	0.49997	.	.	ENSG00000146378	ENST00000367931	T	0.36520	1.25	5.5	5.5	0.81552	.	0.080740	0.49305	D	0.000141	T	0.35941	0.0949	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.17167	-1.0378	10	0.51188	T	0.08	-14.2529	14.5843	0.68312	0.1461:0.8539:0.0:0.0	.	29	Q9P1P5	TAAR2_HUMAN	E	29	ENSP00000356908:G29E	ENSP00000356908:G29E	G	-	2	0	TAAR2	132980952	0.033000	0.19621	1.000000	0.80357	0.992000	0.81027	0.182000	0.16900	2.740000	0.93945	0.650000	0.86243	GGA		0.308	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		4	70	4	70	---	---	---	---	T	132939259	C	T	132939259	3	4	322	1	0	0	0	0	1	0	0	0	15487	855	30	2	973	2	TAAR2	6	132939259	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	15349771	132939259	38175808	16	11592										
EPM2A	7957	broad.mit.edu	37	chr6	145956563	145956563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccaattcatgcttcagtTtgatggttacatgttccacc	6	12	2	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr6:145956563T>A	ENST00000367519.3	-	3	1061	c.536A>T	c.(535-537)aAa>aTa	p.K179I	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	179					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		ATGCTTCAGTTTGATGGTTAC	0.438																																						ENST00000367519.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(535-537)aAa>aTa		epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)							127	112	117					6																	145956563		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145956563T>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3413	protein-coding gene	gene with protein product		607566	"epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.536A>T	6.37:g.145956563T>A	ENSP00000356489:p.Lys179Ile		Somatic				EPM2A_ENST00000496228.1_5'UTR	p.K179I	NM_005670.3	NP_005661.1	WXS	Illumina GAIIx	Phase_I	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	3	1061	-		Ovarian(120;0.162)	179					B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.536A>T	CCDS5206.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.680428|4.680428	0.88542|0.88542	.|.	.|.	ENSG00000112425|ENSG00000112425	ENST00000535403;ENST00000367519;ENST00000392304;ENST00000324857|ENST00000450221;ENST00000435470	T|.	0.61274|.	0.12|.	5.91|5.91	4.76|4.76	0.60689|0.60689	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (1);|.	0.043038|.	0.85682|.	D|.	0.000000|.	T|T	0.47040|0.47040	0.1424|0.1424	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.68943|.	0.961;0.929;0.942|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|5	0.59425|.	D|.	0.04|.	-20.7379|-20.7379	11.6928|11.6928	0.51525|0.51525	0.0:0.0687:0.0:0.9313|0.0:0.0687:0.0:0.9313	.|.	179;179;41|.	O95278;O95278-2;E1P599|.	EPM2A_HUMAN;.;.|.	I|Y	179|79;99	ENSP00000356489:K179I|.	ENSP00000320279:K179I|.	K|N	-|-	2|1	0|0	EPM2A|EPM2A	145998256|145998256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.975000|5.975000	0.70475|0.70475	1.073000|1.073000	0.40885|0.40885	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.438	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			33	71	33	71	---	---	---	---	A	145956563	T	A	145956563	3	1	322	1	0	0	0	0	1	0	0	0	5183	1841	64	5	501	5	EPM2A	6	145956563	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	13017304	145956563	25158504	17	11593										
AEBP1	165	broad.mit.edu	37	chr7	44152662	44152662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggctgtgacaagttccCtcatgagagtgagctgcccc	12	13	1	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr7:44152662C>A	ENST00000223357.3	+	19	2947	c.2642C>A	c.(2641-2643)cCt>cAt	p.P881H	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	881	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						GACAAGTTCCCTCATGAGAGT	0.577																																						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.(2641-2643)cCt>cAt		AE binding protein 1							139	150	147					7																	44152662		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.chr7:44152662C>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.2642C>A	7.37:g.44152662C>A	ENSP00000223357:p.Pro881His		Somatic				AEBP1_ENST00000450684.2_Missense_Mutation_p.P456H	p.P881H	NM_001129.3	NP_001120.3	WXS	Illumina GAIIx	Phase_I	Q8IUX7	AEBP1_HUMAN			19	2947	+			881			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2642C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897975	0.91962	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.14516	2.5;2.5	5.27	5.27	0.74061	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64153	-0.6474	10	0.87932	D	0	-17.9528	18.8544	0.92246	0.0:1.0:0.0:0.0	.	456;881	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	H	881;456	ENSP00000223357:P881H;ENSP00000398878:P456H	ENSP00000223357:P881H	P	+	2	0	AEBP1	44119187	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.725000	0.84808	2.621000	0.88768	0.591000	0.81541	CCT		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		6	238	6	238	---	---	---	---	A	44152662	C	A	44152662	3	1	322	1	0	0	0	0	1	0	0	0	349	681	24	1	2716	1	AEBP1	7	44152662	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		44152662	114986001	18	11594										
RAD21	5885	broad.mit.edu	37	chr8	117859877	117859877	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttgttttctgttcgtattTcgacataactcaagcaaact	6	9	2	0			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr8:117859877T>G	ENST00000297338.2	-	14	2045	c.1758A>C	c.(1756-1758)cgA>cgC	p.R586R	RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000518055.1_Silent_p.R131R|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Silent_p.R24R	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	586					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)					TGTTCGTATTTCGACATAACT	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.(1756-1758)cgA>cgC		RAD21 homolog (S. pombe)							88	81	83					8																	117859877		2203	4300	6503	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.chr8:117859877T>G	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.1758A>C	8.37:g.117859877T>G			Somatic				RAD21_ENST00000523986.1_Silent_p.R90R|RAD21_ENST00000517749.1_Silent_p.R24R|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|RAD21_ENST00000518055.1_Silent_p.R131R	p.R586R	NM_006265.2	NP_006256.1	WXS	Illumina GAIIx	Phase_I	O60216	RAD21_HUMAN			14	2045	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		586					A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	c.1758A>C	CCDS6321.1																																																																																				0.388	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		9	62	9	62	---	---	---	---	G	117859877	T	G	117859877	2	3	322	1	0	0	0	0	0	0	0	1	12981	1770	62	5		5	RAD21	8	117859877	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08		117859877	28504145	19	11595										
NOL6	65083	broad.mit.edu	37	chr9	33468419	33468419	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggaagtcagccagggccGgcttggggggtgtagagaga	21	6	1	2	rs201544071	byFrequency	TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr9:33468419G>A	ENST00000379471.2	-	10	1295	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Splice_Site_p.P343L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	403					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)		AGCCAGGGCCGGCTTGGGGGG	0.577													G|||	3	0.000599042	0	0	5008	,	,		19071	0.003		0	False		,,,				2504	0					ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1207-1209)cCg>cTg		nucleolar protein 6 (RNA-associated)		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	60	62	61		1208,1208	5.3	1	9		61	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	NOL6	NM_022917.4,NM_139235.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	403/1147,403/700	33468419	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468419G>A	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.1207-1C>T	9.37:g.33468419G>A			Somatic				NOL6_ENST00000455041.2_Splice_Site_p.P343L|NOL6_ENST00000464829.1_Intron	p.P403L			WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	10	1295	-			403					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Splice_Site	SNP	ENST00000379471.2	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.374148	0.82573	0.0	1.16E-4	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0	D;D;D;P;D	0.97110	0.999;0.999;0.997;0.781;1.0	T	0.63950	-0.6521	10	0.41790	T	0.15	.	18.6286	0.91350	0.0:0.0:1.0:0.0	.	343;400;403;403;403	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	403;403;403;403;343	ENSP00000313978:P403L;ENSP00000297990:P403L;ENSP00000368784:P403L;ENSP00000395915:P343L	ENSP00000297990:P403L	P	-	2	0	NOL6	33458419	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	9.059000	0.93902	2.506000	0.84524	0.462000	0.41574	CCG		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	Missense_Mutation	6	17	6	17	---	---	---	---	A	33468419	G	A	33468419	5	1	322	1	0	0	0	0	0	0	1	0	10525	1130	39	2	2300	2	NOL6	9	33468419	Splice_Site	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		33468419	107745012	20	11596										
ANK3	288	broad.mit.edu	37	chr10	61834099	61834099	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	tgggtctggggaacatccccAgctgagggatcatagctcct							TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr10:61834099delA	ENST00000280772.2	-	37	6731	c.6540delT	c.(6538-6540)gctfs	p.A2180fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2180					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						GAACATCCCCAGCTGAGGGAT	0.463																																						ENST00000280772.2																			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.(6538-6540)gctfs		ankyrin 3, node of Ranvier (ankyrin G)							110	109	109					10																	61834099		2203	4300	6503	SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834099delA	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.6540delT	10.37:g.61834099delA	ENSP00000280772:p.Ala2180fs		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.A2180fs	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	6731	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	c.6540delT	CCDS7258.1																																																																																				0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	134	10	134	---	---	---	---	-	61834099	A	-	61834099	7	5	322	1	0	1	0	1	0	0	0	0	622	175	7	0	6934	0	ANK3	10	61834099	Frame_Shift_Del	DEL	A	TCGA-YL-A8SO-01B-31D-A377-08		61834099	73700648	21	11597										
MLL	4297	broad.mit.edu	37	chr11	118374348	118374348	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	cccaaccaagccccaataatAcctcatgccaggattctcaa							TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr11:118374348delA	ENST00000389506.5	+	27	7732	c.7732delA	c.(7732-7734)accfs	p.T2578fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.T2581fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2578					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)										CCCCAATAATACCTCATGCCA	0.478																																						ENST00000534358.1																			0											c.(7741-7743)accfs		lysine (K)-specific methyltransferase 2A							62	63	63					11																	118374348		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118374348delA	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.7732delA	11.37:g.118374348delA	ENSP00000374157:p.Thr2578fs		Somatic				KMT2A_ENST00000389506.5_Frame_Shift_Del_p.T2578fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.T2540fs	p.T2581fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					27	7764	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.7741delA	CCDS31686.1																																																																																				0.478	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	35	11	35	---	---	---	---	-	118374348	A	-	118374348	7	5	322	1	0	1	0	1	0	0	0	0	9620	391	14	0	7838	0	MLL	11	118374348	Frame_Shift_Del	DEL	A	TCGA-YL-A8SO-01B-31D-A377-08		118374348	16632168	22	11598										
CLEC4C	170482	broad.mit.edu	37	chr12	7882195	7882195	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagggagaatatttcatttaTatgtagatcttcttcatctt	6	6	5	2	rs147980423		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr12:7882195T>C	ENST00000542353.1	-	7	1129	c.639A>G	c.(637-639)atA>atG	p.I213M	CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	213					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I213M(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				Kidney(36;0.0915)		ATTTCATTTATATGTAGATCT	0.353																																						ENST00000542353.1																			1	Substitution - Missense(1)	p.I213M(1)	lung(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.(637-639)atA>atG		C-type lectin domain family 4, member C		T	MET/ILE,MET/ILE	1,4405	2.1+/-5.4	0,1,2202	102	95	97		639,546	0.4	0.8	12	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense	CLEC4C	NM_130441.2,NM_203503.1	10,10	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	213/214,182/183	7882195	1,13005	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882195T>C	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.639A>G	12.37:g.7882195T>C	ENSP00000440428:p.Ile213Met		Somatic				CLEC4C_ENST00000354629.5_Missense_Mutation_p.I182M|CLEC4C_ENST00000360345.3_Missense_Mutation_p.I213M|CLEC4C_ENST00000540085.1_Missense_Mutation_p.I182M	p.I213M	NM_130441.2	NP_569708.1	WXS	Illumina GAIIx	Phase_I	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	7	1129	-			213					D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.639A>G	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963293	0.18583	2.27E-4	0.0	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02579	4.31;4.24;4.24;4.31	1.66	0.398	0.16319	.	.	.	.	.	T	0.03178	0.0093	N	0.22421	0.69	0.20074	N	0.999931	B;D	0.53312	0.399;0.959	B;P	0.49301	0.057;0.606	T	0.45934	-0.9227	9	0.72032	D	0.01	.	4.4536	0.11633	0.0:0.0:0.3502:0.6498	.	182;213	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	M	213;182;182;213	ENSP00000440428:I213M;ENSP00000346648:I182M;ENSP00000445338:I182M;ENSP00000353500:I213M	ENSP00000346648:I182M	I	-	3	3	CLEC4C	7773462	0.182000	0.23173	0.766000	0.31476	0.049000	0.14656	-0.112000	0.10791	0.101000	0.17610	0.418000	0.28097	ATA		0.353	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		5	38	5	38	---	---	---	---	C	7882195	T	C	7882195	3	2	322	1	0	0	0	0	1	0	0	0	3513	1396	49	2	6	2	CLEC4C	12	7882195	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08		7882195	125969700	23	11599										
CCNA1	8900	broad.mit.edu	37	chr13	37014263	37014263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaccaaccaccaaccagttTctccttcagtacttgaggcg	7	14	2	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr13:37014263T>C	ENST00000255465.4	+	6	1305	c.1041T>C	c.(1039-1041)ttT>ttC	p.F347F	CCNA1_ENST00000418263.1_Silent_p.F346F|CCNA1_ENST00000449823.1_Silent_p.F303F|CCNA1_ENST00000440264.1_Silent_p.F303F			P78396	CCNA1_HUMAN	cyclin A1	347					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)				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)		CCAACCAGTTTCTCCTTCAGT	0.458																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(1036-1038)ttT>ttC		cyclin A1							158	156	157					13																	37014263		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:37014263T>C	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.1041T>C	13.37:g.37014263T>C			Somatic				CCNA1_ENST00000255465.4_Silent_p.F347F|CCNA1_ENST00000440264.1_Silent_p.F303F|CCNA1_ENST00000449823.1_Silent_p.F303F	p.F346F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	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)	6	1388	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	347					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.1038T>C	CCDS9357.1																																																																																				0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		28	86	28	86	---	---	---	---	C	37014263	T	C	37014263	2	2	322	1	0	0	0	0	0	0	0	1	2909	1780	62	2		2	CCNA1	13	37014263	Silent	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08		37014263	78155615	24	11600										
TRMT61A	115708	broad.mit.edu	37	chr14	104000981	104000981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctcagagctgagcaccctGgaggtgctgccacaggtcta	12	12	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr14:104000981G>A	ENST00000389749.4	+	4	800	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	231						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						TGAGCACCCTGGAGGTGCTGC	0.682																																						ENST00000389749.4																			0				skin(1)	1						c.(691-693)ctG>ctA		tRNA methyltransferase 61 homolog A (S. cerevisiae)							16	22	20					14																	104000981		2102	4197	6299	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:104000981G>A	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.693G>A	14.37:g.104000981G>A			Somatic					p.L231L	NM_152307.2	NP_689520.2	WXS	Illumina GAIIx	Phase_I	Q96FX7	TRM61_HUMAN			4	800	+			231					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.693G>A	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	G	4.554	0.102945	0.08731	.	.	ENSG00000166166	ENST00000299202	.	.	.	4.67	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.1472	7.9809	0.30183	0.0857:0.1624:0.752:0.0	.	.	.	.	X	133	.	.	W	+	2	0	TRMT61A	103070734	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.304000	0.51866	2.140000	0.66376	0.313000	0.20887	TGG		0.682	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		13	11	13	11	---	---	---	---	A	104000981	G	A	104000981	2	1	322	1	0	0	0	0	0	0	0	1	16566	1335	47	2		2	TRMT61A	14	104000981	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		104000981	3348559	25	11601										
GRIN2A	2903	broad.mit.edu	37	chr16	9857616	9857616	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggtagacctgctccccgGtggctgggttacctgtctcc	13	14	1	1	rs587780351		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr16:9857616G>C	ENST00000396573.2	-	14	4094	c.3785C>G	c.(3784-3786)aCc>aGc	p.T1262S	GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1262					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)	CTGCTCCCCGGTGGCTGGGTT	0.522																																						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.(3784-3786)aCc>aGc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						103	93	97					16																	9857616		2197	4300	6497	SO:0001583	missense	2903				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.chr16:9857616G>C		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.3785C>G	16.37:g.9857616G>C	ENSP00000379818:p.Thr1262Ser		Somatic				GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1262S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1262S|GRIN2A_ENST00000562109.1_Intron	p.T1262S	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			14	4094	-			1262					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3785C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	2.639	-0.284593	0.05605	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.09911	2.93;2.93;2.93	5.11	1.55	0.23275	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.764422	0.13289	N	0.399108	T	0.05640	0.0148	N	0.22421	0.69	0.22280	N	0.999235	B	0.06786	0.001	B	0.09377	0.004	T	0.40440	-0.9563	9	.	.	.	.	1.996	0.03456	0.1799:0.1217:0.4535:0.2448	.	1262	Q12879	NMDE1_HUMAN	S	1262	ENSP00000379818:T1262S;ENSP00000332549:T1262S;ENSP00000379820:T1262S	.	T	-	2	0	GRIN2A	9765117	0.028000	0.19301	0.355000	0.25773	0.997000	0.91878	0.453000	0.21811	0.515000	0.28320	0.655000	0.94253	ACC		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			3	81	3	81	---	---	---	---	C	9857616	G	C	9857616	3	2	322	1	0	0	0	0	1	0	0	0	6779	1261	44	4	613	4	GRIN2A	16	9857616	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		9857616	80497137	26	11602										
OR1D2	4991	broad.mit.edu	37	chr17	2995484	2995484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcactgtggctactgagtcCttcacagagtaggtatggag	12	8	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:2995484C>A	ENST00000331459.1	-	1	806	c.807G>T	c.(805-807)aaG>aaT	p.K269N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	269					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTACTGAGTCCTTCACAGAGT	0.512																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(805-807)aaG>aaT		olfactory receptor, family 1, subfamily D, member 2							110	104	106					17																	2995484		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995484C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.807G>T	17.37:g.2995484C>A	ENSP00000327585:p.Lys269Asn		Somatic					p.K269N	NM_002548.2	NP_002539.2	WXS	Illumina GAIIx	Phase_I	P34982	OR1D2_HUMAN			1	806	-			269					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.807G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	12.81	2.049341	0.36181	.	.	ENSG00000184166	ENST00000331459	T	0.00107	8.72	3.21	-0.214	0.13161	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.46885	1.475	0.09310	N	0.999999	P	0.46912	0.886	P	0.49361	0.608	T	0.39722	-0.9600	9	0.66056	D	0.02	.	3.4795	0.07597	0.1745:0.4799:0.0:0.3456	.	269	P34982	OR1D2_HUMAN	N	269	ENSP00000327585:K269N	ENSP00000327585:K269N	K	-	3	2	OR1D2	2942234	0.000000	0.05858	0.959000	0.39883	0.721000	0.41392	-1.650000	0.01991	0.077000	0.16863	0.543000	0.68304	AAG		0.512	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		4	62	4	62	---	---	---	---	A	2995484	C	A	2995484	3	1	322	1	0	0	0	0	1	0	0	0	10953	680	24	1	134	1	OR1D2	17	2995484	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		2995484	78199726	27	11603										
DNAH2	146754	broad.mit.edu	37	chr17	7680790	7680790	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcctgaataagtattcagaAgccatcagggggaacttgac	10	8	2	3			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:7680790A>C	ENST00000572933.1	+	33	6545	c.5085A>C	c.(5083-5085)gaA>gaC	p.E1695D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1695	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)				AGTATTCAGAAGCCATCAGGG	0.498																																						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.(5083-5085)gaA>gaC		dynein, axonemal, heavy chain 2							273	270	271					17																	7680790		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.chr17:7680790A>C	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.5085A>C	17.37:g.7680790A>C	ENSP00000458355:p.Glu1695Asp		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.E1695D	p.E1695D			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			33	6545	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1695			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5085A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843483	0.32606	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22336	1.96	5.51	0.222	0.15288	.	0.126125	0.52532	D	0.000080	T	0.11153	0.0272	L	0.31120	0.905	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.21930	-1.0231	10	0.11485	T	0.65	.	6.4479	0.21887	0.5362:0.1288:0.335:0.0	.	1695	Q9P225	DYH2_HUMAN	D	1695	ENSP00000373825:E1695D	ENSP00000353818:E1695D	E	+	3	2	DNAH2	7621515	0.987000	0.35691	0.998000	0.56505	0.982000	0.71751	0.257000	0.18369	0.073000	0.16731	0.477000	0.44152	GAA		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	322	18	322	---	---	---	---	C	7680790	A	C	7680790	3	2	322	1	0	0	0	0	1	0	0	0	4602	69	3	5	5211	5	DNAH2	17	7680790	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	4685306	7680790	73514420	28	11604										
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	6	12	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	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_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_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)	Somatic				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	WXS	Illumina GAIIx	Phase_I	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		39	85	39	85	---	---	---	---	C	47696432	A	C	47696432	3	2	322	1	0	0	0	0	1	0	0	0	15083	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	40015642	47696432	33498778	29	11605										
ACTG1	71	broad.mit.edu	37	chr17	79478956	79478956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcttctctctgttggccttGgggttcaggggggcctcggt	15	10	4	0	rs532725688		TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr17:79478956G>A	ENST00000575842.1	-	2	762	c.336C>T	c.(334-336)ccC>ccT	p.P112P	ACTG1_ENST00000575087.1_Silent_p.P112P|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.P112P|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Silent_p.P112P			P63261	ACTG_HUMAN	actin, gamma 1	112					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)			TGTTGGCCTTGGGGTTCAGGG	0.622																																						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.(334-336)ccC>ccT		actin, gamma 1							44	55	51					17																	79478956		2203	4298	6501	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478956G>A		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.336C>T	17.37:g.79478956G>A			Somatic				ACTG1_ENST00000573283.1_Silent_p.P112P|ACTG1_ENST00000575087.1_Silent_p.P112P|ACTG1_ENST00000331925.2_Silent_p.P112P	p.P112P			WXS	Illumina GAIIx	Phase_I	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	762	-	all_neural(118;0.0878)|Melanoma(429;0.242)		112					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.336C>T	CCDS11782.1																																																																																				0.622	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		19	38	19	38	---	---	---	---	A	79478956	G	A	79478956	2	1	322	1	0	0	0	0	0	0	0	1	196	1335	47	2		2	ACTG1	17	79478956	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	31782524	79478956	1716254	30	11606										
TMEM146	257062	broad.mit.edu	37	chr19	5751816	5751816	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctcatggaccctgaactCcacgttggaaagtgcaaggt	10	11	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:5751816C>G	ENST00000381624.3	+	12	1207	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	CATSPERD_ENST00000381614.2_Silent_p.L40L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	382					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)											ACCCTGAACTCCACGTTGGAA	0.468																																						ENST00000381624.3																			0											c.(1144-1146)ctC>ctG		catsper channel auxiliary subunit delta							68	63	64					19																	5751816		1919	4126	6045	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5751816C>G	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.1146C>G	19.37:g.5751816C>G			Somatic				CATSPERD_ENST00000381614.2_Silent_p.L40L	p.L382L	NM_152784.3	NP_689997.3	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			12	1207	+			382					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1146C>G	CCDS12149.2																																																																																				0.468	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		9	57	9	57	---	---	---	---	G	5751816	C	G	5751816	2	3	322	1	0	0	0	0	0	0	0	1	16057	842	30	4		4	TMEM146	19	5751816	Silent	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08		5751816	53377167	31	11607										
MUC16	94025	broad.mit.edu	37	chr19	9086501	9086501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ggtcataactgtggtgacctCcttggtccaaaatgtgctgc	11	10	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:9086501C>T	ENST00000397910.4	-	1	5517	c.5314G>A	c.(5314-5316)Gag>Aag	p.E1772K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1772	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						GTGGTGACCTCCTTGGTCCAA	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.(5314-5316)Gag>Aag		mucin 16, cell surface associated							120	113	115					19																	9086501		1970	4143	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086501C>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.5314G>A	19.37:g.9086501C>T	ENSP00000381008:p.Glu1772Lys		Somatic					p.E1772K	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	5517	-			1772			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5314G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.903	0.167778	0.09339	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.32	-2.12	0.07165	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.23716	0.048	T	0.45056	-0.9287	8	0.87932	D	0	.	4.9511	0.14015	0.0:0.509:0.0:0.491	.	1772	B5ME49	.	K	1772	ENSP00000381008:E1772K	ENSP00000381008:E1772K	E	-	1	0	MUC16	8947501	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.474000	0.02337	-0.700000	0.05070	0.305000	0.20034	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	57	25	57	---	---	---	---	T	9086501	C	T	9086501	3	4	322	1	0	0	0	0	1	0	0	0	9973	864	30	2	38545	2	MUC16	19	9086501	Missense_Mutation	SNP	C	TCGA-YL-A8SO-01B-31D-A377-08	3334685	9086501	50042482	32	11608										
SIPA1L3	23094	broad.mit.edu	37	chr19	38610375	38610375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacttacgcaccaaggaggtGgtgttcaactgctactgcgg	13	10	1	0			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:38610375G>A	ENST00000222345.6	+	9	3230	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	907					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)			CCAAGGAGGTGGTGTTCAACT	0.542																																						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.(2719-2721)gtG>gtA		signal-induced proliferation-associated 1 like 3							111	123	119					19																	38610375		2202	4300	6502	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610375G>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.2721G>A	19.37:g.38610375G>A			Somatic					p.V907V	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3230	+			907					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2721G>A	CCDS33007.1																																																																																				0.542	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	98	6	98	---	---	---	---	A	38610375	G	A	38610375	2	1	322	1	0	0	0	0	0	0	0	1	14331	1335	47	2		2	SIPA1L3	19	38610375	Silent	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	29523874	38610375	20518608	33	11609										
ZNF836	162962	broad.mit.edu	37	chr19	52658800	52658800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccagtaggatttctgtgAtatcttgcaagttttgaact	8	8	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr19:52658800A>G	ENST00000322146.8	-	5	2657	c.2136T>C	c.(2134-2136)taT>taC	p.Y712Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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)|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						GATTTCTGTGATATCTTGCAA	0.398																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2134-2136)taT>taC		zinc finger protein 836							67	67	67					19																	52658800		1976	4174	6150	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658800A>G	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.2136T>C	19.37:g.52658800A>G			Somatic				CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y712Y	p.Y712Y	NM_001102657.1	NP_001096127.1	WXS	Illumina GAIIx	Phase_I	Q6ZNA1	ZN836_HUMAN			5	2657	-			712						Silent	SNP	ENST00000322146.8	37	c.2136T>C	CCDS46162.1																																																																																				0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		7	56	7	56	---	---	---	---	G	52658800	A	G	52658800	2	3	322	1	0	0	0	0	0	0	0	1	18184	340	12	2		2	ZNF836	19	52658800	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08	14048425	52658800	6470183	34	11610										
PLCB4	5332	broad.mit.edu	37	chr20	9388600	9388600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagatgagcaggcgtggatgGcatcttataaatatgtaggt	13	4	1	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chr20:9388600G>T	ENST00000378493.1	+	18	1663	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S|PLCB4_ENST00000378501.2_Missense_Mutation_p.A550S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	550					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						GGCGTGGATGGCATCTTATAA	0.448																																						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.(1648-1650)Gca>Tca		phospholipase C, beta 4							168	153	158					20																	9388600		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.chr20:9388600G>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.1648G>T	20.37:g.9388600G>T	ENSP00000367754:p.Ala550Ser		Somatic				PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A550S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A562S|PLCB4_ENST00000334005.3_Missense_Mutation_p.A550S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A550S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A562S	p.A550S	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			18	1663	+			550					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1648G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609500	0.66558	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.121669	0.56097	D	0.000037	T	0.57095	0.2030	L	0.48642	1.525	0.80722	D	1	P;P;B;P	0.49358	0.923;0.481;0.141;0.716	P;B;B;B	0.54100	0.742;0.164;0.064;0.407	T	0.49485	-0.8935	10	0.32370	T	0.25	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	562;397;550;550	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	550;562;550;550;550;398	ENSP00000334105:A550S;ENSP00000367734:A562S;ENSP00000278655:A550S;ENSP00000367754:A550S;ENSP00000367762:A550S;ENSP00000390616:A398S	ENSP00000278655:A550S	A	+	1	0	PLCB4	9336600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.486000	0.66856	2.616000	0.88540	0.563000	0.77884	GCA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			26	96	26	96	---	---	---	---	T	9388600	G	T	9388600	3	4	322	1	0	0	0	0	1	0	0	0	12030	1203	42	3	1758	3	PLCB4	20	9388600	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08		9388600	53636920	35	11611										
SSX5	6758	broad.mit.edu	37	chrX	48053626	48053626	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaagtctgcgacccgtttAttacgcatgaaaggtgggag	14	7	1	1			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:48053626A>G	ENST00000376923.1	-	3	218	c.219T>C	c.(217-219)aaT>aaC	p.N73N	SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000311798.1_Silent_p.N114N			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	73	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						CGACCCGTTTATTACGCATGA	0.483																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(340-342)aaT>aaC		synovial sarcoma, X breakpoint 5							151	133	139					X																	48053626		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053626A>G	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.219T>C	X.37:g.48053626A>G			Somatic				SSX5_ENST00000347757.1_Silent_p.N73N|SSX5_ENST00000376923.1_Silent_p.N73N	p.N114N	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			5	394	-			73					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.342T>C	CCDS14289.1																																																																																				0.483	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		27	25	27	25	---	---	---	---	G	48053626	A	G	48053626	2	3	322	1	0	0	0	0	0	0	0	1	15207	446	16	2		2	SSX5	23	48053626	Silent	SNP	A	TCGA-YL-A8SO-01B-31D-A377-08		48053626	107216934	36	11612										
ATP7A	538	broad.mit.edu	37	chrX	77264645	77264645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtacataaaatagagtctaGtctcacaaaacacagaggga	8	8	2	2			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:77264645G>A	ENST00000341514.6	+	7	1909	c.1754G>A	c.(1753-1755)aGt>aAt	p.S585N	ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	585	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATAGAGTCTAGTCTCACAAAA	0.408																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1753-1755)aGt>aAt		ATPase, Cu++ transporting, alpha polypeptide							208	204	205					X																	77264645		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77264645G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1754G>A	X.37:g.77264645G>A	ENSP00000345728:p.Ser585Asn		Somatic				ATP7A_ENST00000343533.5_Missense_Mutation_p.S585N|ATP7A_ENST00000350425.4_Intron	p.S585N	NM_000052.5	NP_000043.4	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			7	1909	+			585			HMA 6.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1754G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.209	-1.038069	0.02013	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86164	-2.08;-2.08	5.1	2.27	0.28462	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.247613	0.39615	N	0.001310	T	0.68366	0.2993	N	0.05510	-0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.001;0.012	T	0.49418	-0.8942	10	0.16896	T	0.51	-3.37	4.7722	0.13162	0.1393:0.5084:0.2721:0.0801	.	585;595	Q04656;Q59HD1	ATP7A_HUMAN;.	N	585;585;595	ENSP00000343026:S585N;ENSP00000345728:S585N	ENSP00000345728:S585N	S	+	2	0	ATP7A	77151301	0.338000	0.24775	0.716000	0.30569	0.032000	0.12392	0.419000	0.21247	0.053000	0.16036	-2.164000	0.00325	AGT		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		5	142	5	142	---	---	---	---	A	77264645	G	A	77264645	3	1	322	1	0	0	0	0	1	0	0	0	1190	1029	36	2	1776	2	ATP7A	23	77264645	Missense_Mutation	SNP	G	TCGA-YL-A8SO-01B-31D-A377-08	29211019	77264645	78005915	37	11613										
GPR112	139378	broad.mit.edu	37	chrX	135426829	135426829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatgttttatcaacttcaTcagccatctctctgcctacc	5	13	5	0			TCGA-YL-A8SO-01B-31D-A377-08	TCGA-YL-A8SO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b01429d0-5689-4988-9b04-c5c9173cc5a5	ce7b01a1-f923-4ed8-a350-eaf02a60ac73	g.chrX:135426829T>A	ENST00000394143.1	+	6	1255	c.964T>A	c.(964-966)Tca>Aca	p.S322T	GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	322					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)					ATCAACTTCATCAGCCATCTC	0.383																																						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.(964-966)Tca>Aca		G protein-coupled receptor 112							122	104	111					X																	135426829		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426829T>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.964T>A	X.37:g.135426829T>A	ENSP00000377699:p.Ser322Thr		Somatic				GPR112_ENST00000412101.1_Missense_Mutation_p.S117T|GPR112_ENST00000287534.4_Missense_Mutation_p.S259T|GPR112_ENST00000370652.1_Missense_Mutation_p.S322T|GPR112_ENST00000394141.1_Missense_Mutation_p.S117T	p.S322T	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	1255	+	Acute lymphoblastic leukemia(192;0.000127)		322					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.964T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	0.157	-1.085486	0.01873	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27720	1.69;1.69;1.65;1.81;1.65	4.27	1.9	0.25705	.	.	.	.	.	T	0.08891	0.0220	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.36625	-0.9740	9	0.02654	T	1	.	3.8811	0.09079	0.1734:0.0:0.6081:0.2185	.	259;117;322	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	322;322;117;259;117	ENSP00000377699:S322T;ENSP00000359686:S322T;ENSP00000416526:S117T;ENSP00000287534:S259T;ENSP00000377697:S117T	ENSP00000287534:S259T	S	+	1	0	GPR112	135254495	0.856000	0.29760	0.078000	0.20375	0.010000	0.07245	0.342000	0.19926	0.168000	0.19655	-0.365000	0.07479	TCA		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			23	22	23	22	---	---	---	---	A	135426829	T	A	135426829	3	1	322	1	0	0	0	0	1	0	0	0	6629	1435	50	5	974	5	GPR112	23	135426829	Missense_Mutation	SNP	T	TCGA-YL-A8SO-01B-31D-A377-08	58162184	135426829	19843731	38	11614										
CNTN2	6900	broad.mit.edu	37	chr1	205033529	205033529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagagatccttatcccctgCcagccccgggcagctccaaa	10	16	0	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				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)			TTATCCCCTGCCAGCCCCGGG	0.637																																					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.(1318-1320)tgC>tgT		contactin 2 (axonal)							88	104	99					1																	205033529		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:205033529C>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.1320C>T	1.37:g.205033529C>T			Somatic					p.C440C	NM_005076.3	NP_005067.1	WXS	Illumina GAIIx	Phase_I	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1604	+	all_cancers(21;0.144)|Breast(84;0.0437)		440			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1320C>T	CCDS1449.1																																																																																				0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		4	185	4	185	---	---	---	---	T	205033529	C	T	205033529	2	4	323	1	0	0	0	0	0	0	0	1	3641	747	26	2		2	CNTN2	1	205033529	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		205033529	44217092	1	11615										
POTEF	728378	broad.mit.edu	37	chr2	130877697	130877697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccacggacgtggtacctgGgctccatgaaggcactgtca	12	13	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:130877697G>A	ENST00000409914.2	-	3	791	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000357462.5_Missense_Mutation_p.P131L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	131					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						GTGGTACCTGGGCTCCATGAA	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.(391-393)cCc>cTc		POTE ankyrin domain family, member F							77	88	84					2																	130877697		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877697G>A	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.392C>T	2.37:g.130877697G>A	ENSP00000386786:p.Pro131Leu		Somatic				POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L	p.P131L			WXS	Illumina GAIIx	Phase_I	A5A3E0	POTEF_HUMAN			1	485	-			131					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.392C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.506635	0.26949	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	1.33	0.392	0.16288	.	.	.	.	.	T	0.30634	0.0771	L	0.37630	1.12	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.22765	-1.0207	9	0.87932	D	0	.	3.49	0.07634	0.2776:0.0:0.7224:0.0	.	131	A5A3E0	POTEF_HUMAN	L	131	ENSP00000350052:P131L;ENSP00000386786:P131L;ENSP00000354232:P131L;ENSP00000355012:P131L	ENSP00000350052:P131L	P	-	2	0	POTEF	130594167	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.127000	0.10547	0.123000	0.18342	0.162000	0.16502	CCC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		38	60	38	60	---	---	---	---	A	130877697	G	A	130877697	3	1	323	1	0	0	0	0	1	0	0	0	12265	1232	43	2	2895	2	POTEF	2	130877697	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		130877697	112321676	2	11616										
POTEE	445582	broad.mit.edu	37	chr2	131976367	131976367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgacagcgccttcatggagcCcaggtaccacgtccgtggag	13	13	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:131976367C>T	ENST00000356920.5	+	1	486	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEE_ENST00000358087.5_Missense_Mutation_p.P131L|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	131					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTCATGGAGCCCAGGTACCAC	0.602																																						ENST00000356920.5																			0											c.(391-393)cCc>cTc		POTE ankyrin domain family, member E							87	90	89					2																	131976367		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976367C>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.392C>T	2.37:g.131976367C>T	ENSP00000439189:p.Pro131Leu		Somatic				PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L	p.P131L	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			1	486	+			131					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.392C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256466	0.39896	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.50001	0.76;0.76	1.05	1.05	0.20165	.	.	.	.	.	T	0.24586	0.0596	N	0.12746	0.255	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.12682	-1.0538	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	131	Q6S8J3	POTEE_HUMAN	L	131	ENSP00000439189:P131L;ENSP00000443049:P131L	ENSP00000439189:P131L	P	+	2	0	AC131180.1	131692837	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-0.542000	0.06091	0.878000	0.35920	0.162000	0.16502	CCC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		5	96	5	96	---	---	---	---	T	131976367	C	T	131976367	3	4	323	1	0	0	0	0	1	0	0	0	12264	623	22	2	394	2	POTEE	2	131976367	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	1098670	131976367	111223006	3	11617										
DCHS2	54798	broad.mit.edu	37	chr4	155253687	155253687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaaggaaatataatagctGtccattctttccagagtcca	6	9	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:155253687G>T	ENST00000357232.4	-	9	2175	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	726	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)|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)		TATAATAGCTGTCCATTCTTT	0.383																																						ENST00000357232.4																			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.(2176-2178)Cag>Aag		dachsous cadherin-related 2							99	107	104					4																	155253687		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253687G>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.2176C>A	4.37:g.155253687G>T	ENSP00000349768:p.Gln726Lys		Somatic				DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K	p.Q726K	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2175	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2176C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752586	0.69533	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60672	0.17;0.77	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.204955	0.32901	N	0.005513	T	0.61160	0.2325	N	0.21194	0.64	0.80722	D	1	D;P	0.62365	0.991;0.926	P;P	0.60609	0.877;0.448	T	0.58526	-0.7621	10	0.27785	T	0.31	.	18.6777	0.91534	0.0:0.0:1.0:0.0	.	1225;726	E9PC11;Q6V1P9	.;PCD23_HUMAN	K	726;1225;1225	ENSP00000349768:Q726K;ENSP00000345062:Q1225K	ENSP00000345062:Q1225K	Q	-	1	0	DCHS2	155473137	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.076000	0.71267	2.462000	0.83206	0.591000	0.81541	CAG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		35	37	35	37	---	---	---	---	T	155253687	G	T	155253687	3	4	323	1	0	0	0	0	1	0	0	0	4288	1386	48	3	6738	3	DCHS2	4	155253687	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		155253687	35900589	4	11618										
PDZD2	23037	broad.mit.edu	37	chr5	32069683	32069683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgaaaatcaggtttccgaGcaggaaatggatgaagtcat	12	6	2	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr5:32069683G>T	ENST00000438447.1	+	15	2848	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D			O15018	PDZD2_HUMAN	PDZ domain containing 2	820					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						AGGTTTCCGAGCAGGAAATGG	0.413																																						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.(2458-2460)gaG>gaT		PDZ domain containing 2							93	85	88					5																	32069683		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32069683G>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.2460G>T	5.37:g.32069683G>T	ENSP00000402033:p.Glu820Asp		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D	p.E820D			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			15	2848	+			820					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2460G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761780	0.69763	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09723	2.95;2.95	5.86	2.55	0.30701	.	0.000000	0.49916	D	0.000125	T	0.17577	0.0422	L	0.34521	1.04	0.40178	D	0.97725	D;D	0.67145	0.996;0.982	D;P	0.64237	0.923;0.822	T	0.01386	-1.1368	10	0.62326	D	0.03	.	9.6066	0.39637	0.2893:0.0:0.7107:0.0	.	646;820	B4E3P2;O15018	.;PDZD2_HUMAN	D	820;624;820	ENSP00000402033:E820D;ENSP00000282493:E820D	ENSP00000282493:E820D	E	+	3	2	PDZD2	32105440	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.881000	0.28173	0.752000	0.32923	-0.150000	0.13652	GAG		0.413	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	35	5	35	---	---	---	---	T	32069683	G	T	32069683	3	4	323	1	0	0	0	0	1	0	0	0	11701	962	34	3	2514	3	PDZD2	5	32069683	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		32069683	148845577	5	11619										
COL19A1	1310	broad.mit.edu	37	chr6	70854121	70854121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggattgccaggagaacatgGtatcccaggaaaacaaggca	13	8	0	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:70854121G>A	ENST00000322773.4	+	24	1748	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	549	Triple-helical region 3 (COL3).				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						GGAGAACATGGTATCCCAGGA	0.358																																						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.(1645-1647)gGt>gAt		collagen, type XIX, alpha 1							108	108	108					6																	70854121		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.chr6:70854121G>A		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.1646G>A	6.37:g.70854121G>A	ENSP00000316030:p.Gly549Asp		Somatic				COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	p.G549D	NM_001858.4	NP_001849.2	WXS	Illumina GAIIx	Phase_I	Q14993	COJA1_HUMAN			24	1748	+			549			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1646G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028721	0.54790	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99619	-6.28;-6.28	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.99768	0.9905	H	0.94698	3.57	0.50813	D	0.99989	D	0.89917	1.0	D	0.87578	0.998	D	0.97244	0.9893	10	0.87932	D	0	.	17.0673	0.86562	0.0:0.0:1.0:0.0	.	549	Q14993	COJA1_HUMAN	D	549;171	ENSP00000316030:G549D;ENSP00000377013:G171D	ENSP00000316030:G549D	G	+	2	0	COL19A1	70910842	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.026000	0.76455	2.529000	0.85273	0.650000	0.86243	GGT		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	160	5	160	---	---	---	---	A	70854121	G	A	70854121	3	1	323	1	0	0	0	0	1	0	0	0	3676	1261	44	2	1736	2	COL19A1	6	70854121	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		70854121	100260946	6	11620										
SFRS13B	135295	broad.mit.edu	37	chr6	89814872	89814872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaccgcctcctatttcttcCccatgaagaacttctacttc	4	15	2	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:89814872C>T	ENST00000452027.2	-	4	575	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	128	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						CTATTTCTTCCCCATGAAGAA	0.383																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(382-384)Gga>Aga		serine/arginine-rich splicing factor 12							71	60	64					6																	89814872		1820	4078	5898	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.chr6:89814872C>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.382G>A	6.37:g.89814872C>T	ENSP00000414302:p.Gly128Arg		Somatic					p.G128R	NM_080743.4	NP_542781.3	WXS	Illumina GAIIx	Phase_I	Q8WXF0	SRS12_HUMAN			4	575	-			128			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.382G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612791	0.46631	.	.	ENSG00000154548	ENST00000452027	T	0.08546	3.08	5.11	5.11	0.69529	.	0.105570	0.41712	D	0.000827	T	0.06325	0.0163	L	0.43152	1.355	0.42033	D	0.991034	P	0.52316	0.952	P	0.52267	0.694	T	0.08411	-1.0723	10	0.05721	T	0.95	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	128	Q8WXF0	SRS12_HUMAN	R	128	ENSP00000414302:G128R	ENSP00000414302:G128R	G	-	1	0	SRSF12	89871591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.538000	0.73852	2.660000	0.90430	0.650000	0.86243	GGA		0.383	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		4	11	4	11	---	---	---	---	T	89814872	C	T	89814872	3	4	323	1	0	0	0	0	1	0	0	0	14169	632	22	2	411	2	SFRS13B	6	89814872	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	18960751	89814872	81300195	7	11621										
EGFR	1956	broad.mit.edu	37	chr7	55268923	55268923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtcctacagactccaacTtctaccgtgccctgatggat	7	14	1	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:55268923T>G	ENST00000275493.2	+	25	3166	c.2989T>G	c.(2989-2991)Ttc>Gtc	p.F997V	EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.F944V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					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)	AGACTCCAACTTCTACCGTGC	0.522		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.(2989-2991)Ttc>Gtc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						153	141	145					7																	55268923		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.chr7:55268923T>G		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.2989T>G	7.37:g.55268923T>G	ENSP00000275493:p.Phe997Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V	p.F997V	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	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)		25	3166	+	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)		997					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2989T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345726	0.82022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61274	0.12;0.12;0.12	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.146590	0.64402	D	0.000007	T	0.68384	0.2995	M	0.86740	2.835	0.47778	D	0.999518	D;P	0.56035	0.974;0.613	P;B	0.49502	0.613;0.33	T	0.75107	-0.3434	10	0.72032	D	0.01	.	10.2829	0.43550	0.1473:0.0:0.0:0.8527	.	952;997	Q504U8;P00533	.;EGFR_HUMAN	V	952;867;997;944	ENSP00000415559:F952V;ENSP00000275493:F997V;ENSP00000395243:F944V	ENSP00000275493:F997V	F	+	1	0	EGFR	55236417	1.000000	0.71417	0.886000	0.34754	0.985000	0.73830	4.871000	0.63042	2.281000	0.76405	0.528000	0.53228	TTC		0.522	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	71	38	71	---	---	---	---	G	55268923	T	G	55268923	3	3	323	1	0	0	0	0	1	0	0	0	4967	1609	56	5	3351	5	EGFR	7	55268923	Missense_Mutation	SNP	T	TCGA-YL-A8SP-01B-11D-A377-08		55268923	103869740	8	11622										
ABRA	137735	broad.mit.edu	37	chr8	107782091	107782091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgctgaccaccgttttggAcacctctttctttttgatgt	7	11	2	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr8:107782091A>G	ENST00000311955.3	-	1	382	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACCGTTTTGGACACCTCTTTC	0.562																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(328-330)Tcc>Ccc		actin-binding Rho activating protein							138	130	133					8																	107782091		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782091A>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.328T>C	8.37:g.107782091A>G	ENSP00000311436:p.Ser110Pro		Somatic					p.S110P	NM_139166.4	NP_631905.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	382	-			110						Missense_Mutation	SNP	ENST00000311955.3	37	c.328T>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001695	0.35320	.	.	ENSG00000174429	ENST00000311955	D	0.92965	-3.14	6.07	2.26	0.28386	.	0.458019	0.27172	N	0.020596	T	0.77678	0.4166	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.67405	-0.5679	10	0.49607	T	0.09	-14.0694	4.4314	0.11529	0.1121:0.063:0.2251:0.5998	.	110	Q8N0Z2	ABRA_HUMAN	P	110	ENSP00000311436:S110P	ENSP00000311436:S110P	S	-	1	0	ABRA	107851267	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.434000	0.34958	0.543000	0.28864	-0.275000	0.10095	TCC		0.562	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		5	61	5	61	---	---	---	---	G	107782091	A	G	107782091	3	3	323	1	0	0	0	0	1	0	0	0	100	275	10	2	825	2	ABRA	8	107782091	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		107782091	38581931	9	11623										
SORCS1	114815	broad.mit.edu	37	chr10	108469017	108469017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatcctgaacaatcaaagaGtctgggtcaatgtagcctgg	11	8	3	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr10:108469017G>T	ENST00000263054.6	-	7	1114	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	369					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)		CAATCAAAGAGTCTGGGTCAA	0.388																																						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.(1105-1107)gaC>gaA		sortilin-related VPS10 domain containing receptor 1							120	111	114					10																	108469017		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108469017G>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.1107C>A	10.37:g.108469017G>T	ENSP00000263054:p.Asp369Glu		Somatic				SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	WXS	Illumina GAIIx	Phase_I	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1114	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	369					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1107C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724427	0.48728	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.30981	1.51;1.51	5.71	-1.29	0.09288	VPS10 (1);	0.111830	0.64402	D	0.000007	T	0.20536	0.0494	N	0.24115	0.695	0.32051	N	0.596951	B;B;B;B;B	0.31705	0.113;0.114;0.336;0.227;0.336	B;B;B;B;B	0.38225	0.041;0.122;0.205;0.138;0.268	T	0.27872	-1.0061	9	.	.	.	-26.8843	12.077	0.53649	0.3982:0.0:0.6018:0.0	.	369;369;369;369;369	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	369	ENSP00000263054:D369E;ENSP00000345964:D369E	.	D	-	3	2	SORCS1	108459007	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	1.101000	0.31037	-0.123000	0.11745	-0.136000	0.14681	GAC		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		30	49	30	49	---	---	---	---	T	108469017	G	T	108469017	3	4	323	1	0	0	0	0	1	0	0	0	14930	1020	36	3	2713	3	SORCS1	10	108469017	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08		108469017	27065730	10	11624										
MRGPRX1	259249	broad.mit.edu	37	chr11	18955897	18955897	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagggacagggcccagagCaggacacacaccaccgctga	13	14	0	2			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:18955897C>G	ENST00000302797.3	-	1	659	c.435G>C	c.(433-435)ctG>ctC	p.L145L	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	145					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						GGGCCCAGAGCAGGACACACA	0.597																																						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.(433-435)ctG>ctC		MAS-related GPR, member X1							97	81	86					11																	18955897		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955897C>G		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.435G>C	11.37:g.18955897C>G			Somatic				MRGPRX1_ENST00000526914.1_5'UTR	p.L145L	NM_147199.3	NP_671732.3	WXS	Illumina GAIIx	Phase_I	Q96LB2	MRGX1_HUMAN			1	659	-			145					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.435G>C	CCDS7846.1																																																																																				0.597	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		28	25	28	25	---	---	---	---	G	18955897	C	G	18955897	2	3	323	1	0	0	0	0	0	0	0	1	9766	697	25	4		4	MRGPRX1	11	18955897	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		18955897	116050619	11	11625										
C13orf33	84935	broad.mit.edu	37	chr13	31498491	31498491	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaatctgtcacccagatcAtctctgacagagcctctttt	6	13	5	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	277					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)		p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363																																						ENST00000380482.4																			1	Substitution - coding silent(1)	p.S277S(1)	lung(1)								c.(829-831)tcA>tcT		mesenteric estrogen-dependent adipogenesis							135	131	133					13																	31498491		2203	4300	6503	SO:0001819	synonymous_variant	84935							g.chr13:31498491A>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.831A>T	13.37:g.31498491A>T			Somatic				TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	p.S277S	NM_032849.3	NP_116238	WXS	Illumina GAIIx	Phase_I					5	1156	+								Q8IXF1|Q96K26|Q96NC8	Silent	SNP	ENST00000380482.4	37	c.831A>T	CCDS9338.1																																																																																				0.363	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		31	52	31	52	---	---	---	---	T	31498491	A	T	31498491	2	4	323	1	0	0	0	0	0	0	0	1	1727	204	8	5		5	C13orf33	13	31498491	Silent	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		31498491	83671387	12	11626										
KIAA0564	23078	broad.mit.edu	37	chr13	42267091	42267091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcccggccagtagtatctaaCaacaggataacattactctg	8	11	2	0			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:42267091C>A	ENST00000379310.3	-	30	3650	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1194						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TAGTATCTAACAACAGGATAA	0.383																																						ENST00000379310.3																			0											c.(3580-3582)ttG>ttT		von Willebrand factor A domain containing 8							63	58	60					13																	42267091		1819	4069	5888	SO:0001583	missense	23078							g.chr13:42267091C>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.3582G>T	13.37:g.42267091C>A	ENSP00000368612:p.Leu1194Phe		Somatic				VWA8_ENST00000478987.1_5'UTR	p.L1194F	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					30	3650	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3582G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966616	0.34659	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11277	2.79	5.76	3.1	0.35709	.	0.093185	0.45361	D	0.000371	T	0.21186	0.0510	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.00359	-1.1791	10	0.59425	D	0.04	.	10.5111	0.44862	0.0:0.787:0.0:0.213	.	1194	A3KMH1	K0564_HUMAN	F	1098;1194	ENSP00000368612:L1194F	ENSP00000251030:L1098F	L	-	3	2	KIAA0564	41165091	0.921000	0.31238	0.499000	0.27577	0.536000	0.34869	0.531000	0.23052	0.356000	0.24157	0.655000	0.94253	TTG		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	23	10	23	---	---	---	---	A	42267091	C	A	42267091	3	1	323	1	0	0	0	0	1	0	0	0	8185	477	17	3	2199	3	KIAA0564	13	42267091	Missense_Mutation	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08	10768600	42267091	72902787	13	11627										
KDM4B	23030	broad.mit.edu	37	chr19	5039897	5039897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagacgtatgatgacatcgaCgacgtggtgatcccggcgcc	13	12	0	4			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000536461.1_Silent_p.D64D|KDM4B_ENST00000381759.4_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					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						ATGACATCGACGACGTGGTGA	0.612																																						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.(190-192)gaC>gaT		lysine (K)-specific demethylase 4B							79	76	77					19																	5039897		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:5039897C>T	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.192C>T	19.37:g.5039897C>T			Somatic				KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	p.D64D	NM_015015.2	NP_055830	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			4	410	+			64					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.192C>T	CCDS12138.1																																																																																				0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		23	56	23	56	---	---	---	---	T	5039897	C	T	5039897	2	4	323	1	0	0	0	0	0	0	0	1	8129	535	19	2		2	KDM4B	19	5039897	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		5039897	54089086	14	11628										
ZNF676	163223	broad.mit.edu	37	chr19	22363305	22363305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tatgttccatgagctttgagGatgagttggaagctttgcca	12	6	0	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:22363305G>A	ENST00000397121.2	-	3	1531	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				GAGCTTTGAGGATGAGTTGGA	0.423																																						ENST00000397121.2																			0				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.(1213-1215)tCc>tTc		zinc finger protein 676							79	82	81					19																	22363305		2140	4267	6407	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363305G>A	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.1214C>T	19.37:g.22363305G>A	ENSP00000380310:p.Ser405Phe		Somatic					p.S405F	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	1531	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	405					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1214C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153144	0.01700	.	.	ENSG00000196109	ENST00000397121	T	0.08008	3.14	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	M	0.79011	2.435	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.07849	-1.0751	9	0.36615	T	0.2	.	3.2543	0.06826	0.0:0.5087:0.2813:0.21	.	405	Q8N7Q3	ZN676_HUMAN	F	405	ENSP00000380310:S405F	ENSP00000380310:S405F	S	-	2	0	ZNF676	22155145	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.822000	0.00748	-1.275000	0.02417	-1.271000	0.01417	TCC		0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		50	73	50	73	---	---	---	---	A	22363305	G	A	22363305	3	1	323	1	0	0	0	0	1	0	0	0	18080	1174	41	2	556	2	ZNF676	19	22363305	Missense_Mutation	SNP	G	TCGA-YL-A8SP-01B-11D-A377-08	17323408	22363305	36765678	15	11629										
SERINC3	10955	broad.mit.edu	37	chr20	43142587	43142587	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgacagtgctcaggaggagaAtgaaagcataaatgaggcga	14	6	1	3			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:43142587A>C	ENST00000342374.4	-	2	291	c.134T>G	c.(133-135)aTt>aGt	p.I45S	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	45					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGGAGGAGAATGAAAGCATA	0.448																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(133-135)aTt>aGt		serine incorporator 3							202	175	184					20																	43142587		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43142587A>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.134T>G	20.37:g.43142587A>C	ENSP00000340243:p.Ile45Ser		Somatic				SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S	p.I45S	NM_006811.2	NP_006802.1	WXS	Illumina GAIIx	Phase_I	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		2	291	-		Myeloproliferative disorder(115;0.0122)	45					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.134T>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321000	0.60634	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937	T;T	0.16743	2.32;2.32	5.34	5.34	0.76211	.	0.105399	0.64402	D	0.000004	T	0.47248	0.1435	M	0.88450	2.955	0.80722	D	1	P;D	0.57899	0.736;0.981	P;D	0.64877	0.718;0.93	T	0.55611	-0.8114	10	0.56958	D	0.05	.	15.612	0.76733	1.0:0.0:0.0:0.0	.	45;45	Q53GK8;Q13530	.;SERC3_HUMAN	S	45;45;12	ENSP00000255175:I45S;ENSP00000340243:I45S	ENSP00000255175:I45S	I	-	2	0	SERINC3	42576001	1.000000	0.71417	0.700000	0.30305	0.260000	0.26232	7.228000	0.78079	2.131000	0.65755	0.460000	0.39030	ATT		0.448	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		30	49	30	49	---	---	---	---	C	43142587	A	C	43142587	3	2	323	1	0	0	0	0	1	0	0	0	14081	101	4	5	1323	5	SERINC3	20	43142587	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		43142587	19882933	16	11630										
ABCG1	9619	broad.mit.edu	37	chr21	43706090	43706090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaactgcccaacctaccacaAcccagcagattttggtaagc	7	14	0	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr21:43706090A>G	ENST00000361802.2	+	8	1104	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398437.1_Missense_Mutation_p.N466S|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	320					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)	ACCTACCACAACCCAGCAGAT	0.517																																						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.(1396-1398)aAc>aGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						155	155	155					21																	43706090		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.chr21:43706090A>G	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.959A>G	21.37:g.43706090A>G	ENSP00000354995:p.Asn320Ser		Somatic				ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S	p.N466S			WXS	Illumina GAIIx	Phase_I	P45844	ABCG1_HUMAN			9	1545	+			320			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1397A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147348	0.77888	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.994;0.974;0.997;0.995;0.996	P;D;P;D;D;D	0.70935	0.831;0.919;0.562;0.96;0.957;0.971	T	0.73442	-0.3981	9	.	.	.	-44.5327	13.2719	0.60165	1.0:0.0:0.0:0.0	.	331;331;320;320;317;322	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	S	322;317;320;320;331;466;428	ENSP00000381475:N322S;ENSP00000291524:N317S;ENSP00000381467:N320S;ENSP00000354995:N320S;ENSP00000339744:N331S;ENSP00000381464:N466S;ENSP00000343820:N428S	.	N	+	2	0	ABCG1	42579159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.449000	0.90337	1.572000	0.49736	0.533000	0.62120	AAC		0.517	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		74	81	74	81	---	---	---	---	G	43706090	A	G	43706090	3	3	323	1	0	0	0	0	1	0	0	0	68	43	2	2	1157	2	ABCG1	21	43706090	Missense_Mutation	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		43706090	4423805	17	11631										
TRIOBP	11078	broad.mit.edu	37	chr22	38121968	38121968	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccccagagccttccctcttAttccaggacctccccagggc	8	19	1	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr22:38121968A>G	ENST00000406386.3	+	7	3660	c.3405A>G	c.(3403-3405)ttA>ttG	p.L1135L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1135					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)					CTTCCCTCTTATTCCAGGACC	0.642																																						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.(3403-3405)ttA>ttG		TRIO and F-actin binding protein							79	89	86					22																	38121968		1950	4136	6086	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.chr22:38121968A>G	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.3405A>G	22.37:g.38121968A>G			Somatic					p.L1135L	NM_001039141.2	NP_001034230.1	WXS	Illumina GAIIx	Phase_I	Q9H2D6	TARA_HUMAN			7	3660	+	Melanoma(58;0.0574)		1135					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3405A>G	CCDS43015.1																																																																																				0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			40	49	40	49	---	---	---	---	G	38121968	A	G	38121968	2	3	323	1	0	0	0	0	0	0	0	1	16550	446	16	2		2	TRIOBP	22	38121968	Silent	SNP	A	TCGA-YL-A8SP-01B-11D-A377-08		38121968	13182598	18	11632										
MXRA5	25878	broad.mit.edu	37	chrX	3238698	3238698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgctgggtttggacatgtgCaatgggagaggaattgttgt	16	3	0	1			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:3238698C>T	ENST00000217939.6	-	5	5182	c.5028G>A	c.(5026-5028)ttG>ttA	p.L1676L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1676						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)				TGGACATGTGCAATGGGAGAG	0.418																																						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.(5026-5028)ttG>ttA		matrix-remodelling associated 5							174	165	168					X																	3238698		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238698C>T	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.5028G>A	X.37:g.3238698C>T			Somatic					p.L1676L	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	5182	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1676					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5028G>A	CCDS14124.1																																																																																				0.418	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	141	14	141	---	---	---	---	T	3238698	C	T	3238698	2	4	323	1	0	0	0	0	0	0	0	1	10003	709	25	2		2	MXRA5	23	3238698	Silent	SNP	C	TCGA-YL-A8SP-01B-11D-A377-08		3238698	152031862	19	11633										
BCORL1	63035	broad.mit.edu	37	chrX	129148368	129148369	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	0	0	1	1	0	gcaccaccacccagcctgcaINScccgatggggtccctgggcc							TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:129148368_129148369insC	ENST00000218147.7	+	4	1817_1818	c.1620_1621insC	c.(1621-1623)cccfs	p.P541fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	541	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						CCCAGCCTGCACCCGATGGGGT	0.624																																						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.(1621-1623)cccfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148368_129148369insC	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.1623dupC	X.37:g.129148371_129148371dupC	ENSP00000218147:p.Pro541fs		Somatic				BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs	p.P541fs	NM_021946.4	NP_068765	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	1664_1665	+			541			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	c.1620_1621insC	CCDS14616.1																																																																																				0.624	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		7	105	7	105	---	---	---	---	C	129148369	-	C	129148368	7	5	323	1	0	1	1	0	0	0	0	0	1387	146	6	0	1630	0	BCORL1	23	129148368	Frame_Shift_Ins	INS	-	TCGA-YL-A8SP-01B-11D-A377-08	125909670	129148368	26122192	20	11634										
PIK3CD	5293	broad.mit.edu	37	chr1	9776098	9776098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaccctgcggctcccgaacCgggcccttctggtcaacgtt	11	16	2	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:9776098C>T	ENST00000377346.4	+	5	757	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R188W|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	188	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				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)	GCTCCCGAACCGGGCCCTTCT	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.(562-564)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							12	15	14					1																	9776098		2187	4268	6455	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.chr1:9776098C>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.562C>T	1.37:g.9776098C>T	ENSP00000366563:p.Arg188Trp		Somatic				PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W	p.R188W			WXS	Illumina GAIIx	Phase_I	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	770	+	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)	188					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.562C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693871	0.68386	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.04	4.09	0.47781	Phosphoinositide 3-kinase, ras-binding (2);	0.253351	0.38837	N	0.001542	T	0.53417	0.1795	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	P;D;P	0.67548	0.882;0.952;0.882	T	0.54470	-0.8289	10	0.72032	D	0.01	-28.9157	11.6944	0.51536	0.2942:0.7058:0.0:0.0	.	188;188;188	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	W	188	ENSP00000446444:R188W;ENSP00000366563:R188W;ENSP00000354410:R188W	ENSP00000353766:R188W	R	+	1	2	PIK3CD	9698685	0.959000	0.32827	0.694000	0.30210	0.713000	0.41058	1.671000	0.37513	2.619000	0.88677	0.561000	0.74099	CGG		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		6	16	6	16	---	---	---	---	T	9776098	C	T	9776098	3	4	324	1	0	0	0	0	1	0	0	0	11915	643	23	2	572	2	PIK3CD	1	9776098	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		9776098	239474523	1	11635										
NBPF1	55672	broad.mit.edu	37	chr1	16893756	16893756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggcatgagtcagtcagTtcaagataacctgaaggagt	13	7	3	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:16893756T>C	ENST00000430580.2	-	25	3644	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	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)		AGTCAGTCAGTTCAAGATAAC	0.488																																						ENST00000430580.2																			0											c.(2755-2757)gaA>gaG		neuroblastoma breakpoint family, member 1							830	724	760					1																	16893756		2203	4298	6501	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16893756T>C	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.2757A>G	1.37:g.16893756T>C			Somatic				NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E919E	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	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	3644	-			919			NBPF 5.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2757A>G																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		26	2935	26	2935	---	---	---	---	C	16893756	T	C	16893756	2	2	324	1	0	0	0	0	0	0	0	1	10192	1722	60	2		2	NBPF1	1	16893756	Silent	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08	7117658	16893756	232356865	2	11636										
FLG	2312	broad.mit.edu	37	chr1	152277018	152277018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctaccgattgctcgtagtgGgatccctgccttcctcttct	8	14	3	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:152277018G>A	ENST00000368799.1	-	3	10379	c.10344C>T	c.(10342-10344)tcC>tcT	p.S3448S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3448	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)			GCTCGTAGTGGGATCCCTGCC	0.602									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.(10342-10344)tcC>tcT		filaggrin							362	342	349					1																	152277018		2203	4299	6502	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.chr1:152277018G>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.10344C>T	1.37:g.152277018G>A			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3448S	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3448			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10344C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		45	359	45	359	---	---	---	---	A	152277018	G	A	152277018	2	1	324	1	0	0	0	0	0	0	0	1	5922	1219	43	2		2	FLG	1	152277018	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	135383262	152277018	96973603	3	11637										
CACNA1E	777	broad.mit.edu	37	chr1	181546961	181546961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacctgaggaccctccgggCtgtgcgtgtcctgcggcctt	15	14	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:181546961C>A	ENST00000367573.2	+	4	572	c.572C>A	c.(571-573)gCt>gAt	p.A191D	CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	191					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.A191V(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						ACCCTCCGGGCTGTGCGTGTC	0.547																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.A191V(1)	skin(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.(571-573)gCt>gAt		calcium channel, voltage-dependent, R type, alpha 1E subunit							61	65	63					1																	181546961		2010	4177	6187	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181546961C>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.572C>A	1.37:g.181546961C>A	ENSP00000356545:p.Ala191Asp		Somatic				CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR	p.A191D	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			4	737	+			191					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.572C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519586	0.96416	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97885	1.0294	10	0.87932	D	0	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	191;191	Q15878-2;Q15878-3	.;.	D	191;191;191;142;142;191;191	ENSP00000432038:A191D;ENSP00000356542:A191D;ENSP00000434814:A191D;ENSP00000350183:A142D;ENSP00000351101:A142D;ENSP00000353222:A191D;ENSP00000356545:A191D	ENSP00000350183:A142D	A	+	2	0	CACNA1E	179813584	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.711000	0.84669	2.832000	0.97577	0.655000	0.94253	GCT		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	14	3	14	---	---	---	---	A	181546961	C	A	181546961	3	1	324	1	0	0	0	0	1	0	0	0	2542	797	28	3	586	3	CACNA1E	1	181546961	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	29269943	181546961	67703660	4	11638										
OR2G6	391211	broad.mit.edu	37	chr1	248685230	248685230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagacaaaaccatgagctacGgtggctgtgtggcccagctc	12	11	0	2	rs148238174		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:248685230G>A	ENST00000343414.4	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	95						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(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)			CATGAGCTACGGTGGCTGTGT	0.537																																						ENST00000343414.4																			0				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.(283-285)Ggt>Agt		olfactory receptor, family 2, subfamily G, member 6		G	SER/GLY	0,4406		0,0,2203	119	115	116		283	1.5	0	1	dbSNP_134	116	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	95/317	248685230	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685230G>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.283G>A	1.37:g.248685230G>A	ENSP00000341291:p.Gly95Ser		Somatic					p.G95S	NM_001013355.1	NP_001013373.1	WXS	Illumina GAIIx	Phase_I	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	315	+	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)	95					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.283G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	4.605	0.112449	0.08831	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00388	7.59	3.68	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.562519	0.15139	U	0.278416	T	0.00144	0.0004	N	0.17764	0.52	0.09310	N	1	B	0.34255	0.445	B	0.23419	0.046	T	0.23797	-1.0178	10	0.26408	T	0.33	.	4.9973	0.14245	0.1336:0.0:0.6545:0.2119	.	95	Q5TZ20	OR2G6_HUMAN	S	95	ENSP00000341291:G95S	ENSP00000341291:G95S	G	+	1	0	OR2G6	246751853	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-2.753000	0.00791	0.672000	0.31204	0.400000	0.26472	GGT		0.537	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		20	60	20	60	---	---	---	---	A	248685230	G	A	248685230	3	1	324	1	0	0	0	0	1	0	0	0	11000	1116	39	2	285	2	OR2G6	1	248685230	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	67138269	248685230	565391	5	11639										
RGPD4	285190	broad.mit.edu	37	chr2	108487639	108487639	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagaaggtgaaaaagttcTgtattcacagggggtaaaac	12	4	2	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:108487639T>G	ENST00000408999.3	+	20	3256	c.3179T>G	c.(3178-3180)cTg>cGg	p.L1060R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1060	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAAAAGTTCTGTATTCACAG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3178-3180)cTg>cGg		RANBP2-like and GRIP domain containing 4							10	8	8					2																	108487639		681	1560	2241	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487639T>G	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.3179T>G	2.37:g.108487639T>G	ENSP00000386810:p.Leu1060Arg		Somatic				RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	p.L1060R	NM_182588.2	NP_872394.2	WXS	Illumina GAIIx	Phase_I	Q7Z3J3	RGPD4_HUMAN			20	3256	+			1060			RanBD1 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3179T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.949	0.967792	0.18659	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.58210	0.35;0.35	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75591	0.3870	M	0.92507	3.315	0.27189	N	0.960459	D	0.76494	0.999	D	0.77557	0.99	T	0.64841	-0.6312	9	0.72032	D	0.01	-19.8587	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1060	Q7Z3J3	RGPD4_HUMAN	R	1060;1060;818	ENSP00000347081:L1060R;ENSP00000386810:L1060R	ENSP00000347081:L1060R	L	+	2	0	RGPD4	107854071	1.000000	0.71417	0.998000	0.56505	0.051000	0.14879	5.932000	0.70121	1.072000	0.40860	0.136000	0.15936	CTG		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		108	506	108	506	---	---	---	---	G	108487639	T	G	108487639	3	3	324	1	0	0	0	0	1	0	0	0	13288	1580	55	5	3257	5	RGPD4	2	108487639	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		108487639	134711734	6	11640										
BCL2L11	10018	broad.mit.edu	37	chr2	111907651	111907651	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggctgaacctgcagataTgcgcccagagatatggatcg	13	10	0	3	rs114585494	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:111907651T>A	ENST00000393256.3	+	3	698	c.425T>A	c.(424-426)aTg>aAg	p.M142K	BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCTGCAGATATGCGCCCAGAG	0.448																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(424-426)aTg>aAg		BCL2-like 11 (apoptosis facilitator)							132	103	113					2																	111907651		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111907651T>A	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.425T>A	2.37:g.111907651T>A	ENSP00000376943:p.Met142Lys		Somatic				BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K	p.M142K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	WXS	Illumina GAIIx	Phase_I	O43521	B2L11_HUMAN			3	698	+			142					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.425T>A	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908828	0.52439	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.98	3.56	0.40772	Bcl-x interacting (1);	0.476832	0.21345	N	0.076065	T	0.41926	0.1180	L	0.27053	0.805	0.80722	D	1	B;B;B	0.22211	0.062;0.02;0.066	B;B;B	0.16722	0.015;0.016;0.014	T	0.27226	-1.0080	9	0.87932	D	0	0.5293	7.8793	0.29612	0.0:0.1643:0.0:0.8357	.	52;142;82	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	K	82;142;52;142;9	.	ENSP00000309226:M82K	M	+	2	0	BCL2L11	111624122	0.965000	0.33210	0.538000	0.28064	0.970000	0.65996	1.697000	0.37784	0.488000	0.27723	0.533000	0.62120	ATG		0.448	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			5	45	5	45	---	---	---	---	A	111907651	T	A	111907651	3	1	324	1	0	0	0	0	1	0	0	0	1369	1464	51	5	560	5	BCL2L11	2	111907651	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08	3420012	111907651	131291722	7	11641										
TTN	7273	broad.mit.edu	37	chr2	179425080	179425081	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	cacgcacccatcttaggctaINStttttctctcgcctttcaat							TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:179425080_179425081insT	ENST00000591111.1	-	276	81079_81080	c.80855_80856insA	c.(80854-80856)aatfs	p.N26952fs	TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.N28593fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs			Q8WZ42	TITIN_HUMAN	titin	26952	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)			ATCTTAGGCTATTTTTCTCTCG	0.386																																						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.(85777-85779)aatfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425080_179425081insT	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.80856dupA	2.37:g.179425085_179425085dupT	ENSP00000465570:p.Asn26952fs		Somatic				TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.N26952fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.N28593fs	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86002_86003	-			26952			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.85778_85779insA																																																																																					0.386	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	24	24	24	---	---	---	---	T	179425081	-	T	179425080	7	5	324	1	0	1	1	0	0	0	0	0	16732	446	16	0	22348	0	TTN	2	179425080	Frame_Shift_Ins	INS	-	TCGA-YL-A8SQ-01B-11D-A377-08	67517429	179425080	63774293	8	11642										
NBEAL1	65065	broad.mit.edu	37	chr2	204073899	204073899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtaggatggaacggtgattAtacataccattcagaaaggt	11	5	1	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:204073899A>G	ENST00000449802.1	+	52	7885	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2518										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						AACGGTGATTATACATACCAT	0.388																																						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.(7552-7554)Ata>Gta		neurobeachin-like 1							122	112	115					2																	204073899		1883	4104	5987	SO:0001583	missense	65065						binding	g.chr2:204073899A>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.7552A>G	2.37:g.204073899A>G	ENSP00000399903:p.Ile2518Val		Somatic					p.I2518V	NM_001114132.1	NP_001107604.1	WXS	Illumina GAIIx	Phase_I	Q6ZS30	NBEL1_HUMAN			52	7885	+			2518					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7552A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	9.333	1.061057	0.19987	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.60040	0.22;0.22	5.26	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.139426	0.46442	U	0.000282	T	0.33876	0.0878	N	0.12527	0.23	0.41000	D	0.984921	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.004;0.003;0.008	T	0.06463	-1.0825	10	0.17369	T	0.5	.	8.6629	0.34103	0.7731:0.0:0.2269:0.0	.	1228;2518;2507	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	V	2518;2449;533	ENSP00000399903:I2518V;ENSP00000388466:I533V	ENSP00000344985:I2449V	I	+	1	0	NBEAL1	203782144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.814000	0.48010	0.313000	0.23062	0.377000	0.23210	ATA		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	85	22	85	---	---	---	---	G	204073899	A	G	204073899	3	3	324	1	0	0	0	0	1	0	0	0	10188	449	16	2	7754	2	NBEAL1	2	204073899	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	24648819	204073899	39125474	9	11643										
FZD5	7855	broad.mit.edu	37	chr2	208632400	208632400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtggaagtactgcgcgtagCccgcgatggcctcgttgccc	15	13	0	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:208632400C>A	ENST00000295417.3	-	2	1617	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	355					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)		CTGCGCGTAGCCCGCGATGGC	0.662																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1063-1065)gGc>gTc		frizzled family receptor 5							62	55	58					2																	208632400		2203	4300	6503	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.chr2:208632400C>A	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.1064G>T	2.37:g.208632400C>A	ENSP00000354607:p.Gly355Val		Somatic					p.G355V	NM_003468.3	NP_003459.2	WXS	Illumina GAIIx	Phase_I	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1617	-			355					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1064G>T	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080418	0.76528	.	.	ENSG00000163251	ENST00000295417	D	0.82081	-1.57	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.219359	0.47455	U	0.000240	D	0.89396	0.6703	M	0.84683	2.71	0.80722	D	1	P	0.34699	0.464	P	0.45794	0.493	D	0.90581	0.4529	10	0.72032	D	0.01	.	18.3258	0.90254	0.0:1.0:0.0:0.0	.	355	Q13467	FZD5_HUMAN	V	355	ENSP00000354607:G355V	ENSP00000354607:G355V	G	-	2	0	FZD5	208340645	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.333000	0.79357	0.561000	0.74099	GGC		0.662	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		3	18	3	18	---	---	---	---	A	208632400	C	A	208632400	3	1	324	1	0	0	0	0	1	0	0	0	6133	739	26	3	697	3	FZD5	2	208632400	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08	4558501	208632400	34566973	10	11644										
DOCK10	55619	broad.mit.edu	37	chr2	225719727	225719727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcaatatccaggcttccaGgaatggtctgcattttgctt	9	10	1	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:225719727G>T	ENST00000258390.7	-	16	1908	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H	DOCK10_ENST00000409592.3_Missense_Mutation_p.P608H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	614					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)		CAGGCTTCCAGGAATGGTCTG	0.428																																						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.(1822-1824)cCt>cAt		dedicator of cytokinesis 10							91	93	92					2																	225719727		1993	4165	6158	SO:0001583	missense	55619						GTP binding	g.chr2:225719727G>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.1841C>A	2.37:g.225719727G>T	ENSP00000258390:p.Pro614His		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H	p.P608H			WXS	Illumina GAIIx	Phase_I	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)	16	1936	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	614					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1823C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662912	0.88251	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24908	1.83;1.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.979	T	0.67469	-0.5663	10	0.72032	D	0.01	.	19.3479	0.94372	0.0:0.0:1.0:0.0	.	614;608	Q96BY6;B3FL70	DOC10_HUMAN;.	H	608;614	ENSP00000386694:P608H;ENSP00000258390:P614H	ENSP00000258390:P614H	P	-	2	0	DOCK10	225427971	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	6.194000	0.72082	2.632000	0.89209	0.643000	0.83706	CCT		0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	16	3	16	---	---	---	---	T	225719727	G	T	225719727	3	4	324	1	0	0	0	0	1	0	0	0	4685	1000	35	1	4883	1	DOCK10	2	225719727	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	17087327	225719727	17479646	11	11645										
UBA7	7318	broad.mit.edu	37	chr3	49845862	49845862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggagggcccacactccagActtccagggctttgttcagt	13	12	1	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr3:49845862A>C	ENST00000333486.3	-	19	2545	c.2387T>G	c.(2386-2388)gTc>gGc	p.V796G	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	796					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)		CACACTCCAGACTTCCAGGGC	0.587																																						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.(2386-2388)gTc>gGc		ubiquitin-like modifier activating enzyme 7							132	139	136					3																	49845862		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.chr3:49845862A>C	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.2387T>G	3.37:g.49845862A>C	ENSP00000333266:p.Val796Gly		Somatic					p.V796G	NM_003335.2	NP_003326.2	WXS	Illumina GAIIx	Phase_I	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	19	2545	-			796					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2387T>G	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840954	0.16891	.	.	ENSG00000182179	ENST00000333486	T	0.42900	0.96	4.79	-2.31	0.06765	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	1.186740	0.05816	N	0.614793	T	0.23572	0.0570	N	0.19112	0.55	0.22457	N	0.999083	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.33141	T	0.24	-0.8934	3.2797	0.06911	0.3199:0.0:0.1902:0.4899	.	796	P41226	UBA7_HUMAN	G	796	ENSP00000333266:V796G	ENSP00000333266:V796G	V	-	2	0	UBA7	49820866	0.001000	0.12720	0.046000	0.18839	0.096000	0.18686	-0.377000	0.07456	-0.239000	0.09710	0.459000	0.35465	GTC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		16	48	16	48	---	---	---	---	C	49845862	A	C	49845862	3	2	324	1	0	0	0	0	1	0	0	0	16830	275	10	5	675	5	UBA7	3	49845862	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		49845862	148176568	12	11646										
ZNF732	654254	broad.mit.edu	37	chr4	265718	265718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	attaaagactttgccacattCctgacatttgtagagtttct	6	8	1	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:265718C>T	ENST00000419098.1	-	4	938	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	310					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(2)	3						TTGCCACATTCCTGACATTTG	0.388																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(928-930)Gaa>Aaa		zinc finger protein 732							68	64	65					4																	265718		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265718C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.928G>A	4.37:g.265718C>T	ENSP00000415774:p.Glu310Lys		Somatic					p.E310K	NM_001137608.1	NP_001131080.1	WXS	Illumina GAIIx	Phase_I	B4DXR9	ZN732_HUMAN			4	938	-			310						Missense_Mutation	SNP	ENST00000419098.1	37	c.928G>A	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102659	0.37145	.	.	ENSG00000186777	ENST00000419098	T	0.07327	3.2	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.17838	0.53	0.19945	N	0.999947	P	0.48589	0.912	P	0.56088	0.791	T	0.26467	-1.0102	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	310	B4DXR9	ZN732_HUMAN	K	310	ENSP00000415774:E310K	ENSP00000415774:E310K	E	-	1	0	ZNF732	255718	0.000000	0.05858	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.399000	0.25367	0.400000	0.26472	GAA		0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		3	15	3	15	---	---	---	---	T	265718	C	T	265718	3	4	324	1	0	0	0	0	1	0	0	0	18120	864	30	2	833	2	ZNF732	4	265718	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		265718	190888558	13	11647										
UTP3	57050	broad.mit.edu	37	chr4	71555199	71555210	+	In_Frame_Del	DEL	TACAACCTCTAC	TACAACCTCTAC	-													0	0	1	0	0	0	1	1	0	gccaatacttgaggaccaagTacaacctctacttgaattat							TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:71555199_71555210delTACAACCTCTAC	ENST00000254803.2	+	1	1004_1015	c.805_816delTACAACCTCTAC	c.(805-816)tacaacctctacdel	p.YNLY269del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	269					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGGACCAAGTACAACCTCTACTTGAATTATT	0.443																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(805-816)tacaacctctacdel		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555199_71555210delTACAACCTCTAC	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.805_816delTACAACCTCTAC	4.37:g.71555199_71555210delTACAACCTCTAC	ENSP00000254803:p.Tyr269_Tyr272del		Somatic					p.YNLY269del	NM_020368.2	NP_065101.1	WXS	Illumina GAIIx	Phase_I	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1004_1015	+			269					Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.805_816delTACAACCTCTAC	CCDS3546.1																																																																																				0.443	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		25	156	25	156	---	---	---	---	-	71555210	TACAACCTCTAC	-	71555199	7	5	324	1	0	1	0	1	0	0	0	0	17098	1638	57	0	807	0	UTP3	4	71555199	In_Frame_Del	DEL	TACAACCTCTAC	TCGA-YL-A8SQ-01B-11D-A377-08	71289481	71555199	119599077	14	11648										
FRAS1	80144	broad.mit.edu	37	chr4	79340185	79340185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaagtggaaagattgtctAcaacatcactctacctctgc	7	12	4	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:79340185A>G	ENST00000325942.6	+	33	4948	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y1503C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1503					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						AAGATTGTCTACAACATCACT	0.363																																						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.(4507-4509)tAc>tGc		Fraser syndrome 1							180	173	175					4																	79340185		1881	4114	5995	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79340185A>G	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.4508A>G	4.37:g.79340185A>G	ENSP00000326330:p.Tyr1503Cys		Somatic				FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C	p.Y1503C	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			33	4948	+			1502					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4508A>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911267	0.33721	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.56444	0.46;0.46	5.22	5.22	0.72569	.	0.069181	0.64402	D	0.000012	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.975	T	0.76610	-0.2896	10	0.87932	D	0	.	11.1482	0.48442	0.8621:0.0:0.0:0.1379	.	1503;1503	E9PHH6;A2RRR8	.;.	C	1503	ENSP00000326330:Y1503C;ENSP00000264895:Y1503C	ENSP00000264895:Y1503C	Y	+	2	0	FRAS1	79559209	0.998000	0.40836	0.720000	0.30636	0.017000	0.09413	2.789000	0.47813	2.099000	0.63709	0.533000	0.62120	TAC		0.363	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	104	6	104	---	---	---	---	G	79340185	A	G	79340185	3	3	324	1	0	0	0	0	1	0	0	0	6042	391	14	2	4638	2	FRAS1	4	79340185	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	7784986	79340185	111814091	15	11649										
TACR3	6870	broad.mit.edu	37	chr4	104579429	104579429	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagagagtacggcctggcAtgactttggttttggaataa	13	6	0	2	rs201587477		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:104579429A>C	ENST00000304883.2	-	2	820	c.680T>G	c.(679-681)aTg>aGg	p.M227R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227					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)		ACGGCCTGGCATGACTTTGGT	0.398																																						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.(679-681)aTg>aGg		tachykinin receptor 3							139	130	133					4																	104579429		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579429A>C	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.680T>G	4.37:g.104579429A>C	ENSP00000303325:p.Met227Arg		Somatic					p.M227R	NM_001059.2	NP_001050.1	WXS	Illumina GAIIx	Phase_I	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	2	820	-		Hepatocellular(203;0.217)	227					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.680T>G	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372152	0.24857	.	.	ENSG00000169836	ENST00000304883	T	0.36157	1.27	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.185998	0.53938	D	0.000042	T	0.23289	0.0563	N	0.25144	0.715	0.43959	D	0.996635	P	0.46142	0.873	B	0.39465	0.3	T	0.04053	-1.0981	10	0.27082	T	0.32	.	10.1772	0.42946	0.9266:0.0:0.0734:0.0	.	227	P29371	NK3R_HUMAN	R	227	ENSP00000303325:M227R	ENSP00000303325:M227R	M	-	2	0	TACR3	104798878	0.987000	0.35691	0.999000	0.59377	0.278000	0.26855	3.527000	0.53517	2.326000	0.78906	0.533000	0.62120	ATG		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		10	48	10	48	---	---	---	---	C	104579429	A	C	104579429	3	2	324	1	0	0	0	0	1	0	0	0	15504	217	8	5	733	5	TACR3	4	104579429	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08	25239244	104579429	86574847	16	11650										
RAB33B	83452	broad.mit.edu	37	chr4	140375467	140375467	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcaagataatcgtgatcGgcgactccaatgtgggcaag	11	9	2	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:140375467G>C	ENST00000305626.5	+	1	507	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA|RP11-83A24.2_ENST00000610159.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	40					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)					AATCGTGATCGGCGACTCCAA	0.622																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(118-120)Ggc>Cgc		RAB33B, member RAS oncogene family							51	49	49					4																	140375467		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140375467G>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.118G>C	4.37:g.140375467G>C	ENSP00000306496:p.Gly40Arg		Somatic					p.G40R	NM_031296.1	NP_112586.1	WXS	Illumina GAIIx	Phase_I	Q9H082	RB33B_HUMAN			1	507	+	all_hematologic(180;0.162)		40					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.118G>C	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439628	0.96168	.	.	ENSG00000172007	ENST00000305626	D	0.98862	-5.19	5.17	4.31	0.51392	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	15.2042	0.73165	0.0:0.0:0.8577:0.1423	.	40	Q9H082	RB33B_HUMAN	R	40	ENSP00000306496:G40R	ENSP00000306496:G40R	G	+	1	0	RAB33B	140594917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.569000	0.98170	1.269000	0.44280	0.462000	0.41574	GGC		0.622	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		16	21	16	21	---	---	---	---	C	140375467	G	C	140375467	3	2	324	1	0	0	0	0	1	0	0	0	12923	1116	39	4	120	4	RAB33B	4	140375467	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	35796038	140375467	50778809	17	11651										
DNAH5	1767	broad.mit.edu	37	chr5	13871697	13871697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacagagcaatggaacccaCacagacatattcaggctcag	9	11	2	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:13871697C>T	ENST00000265104.4	-	23	3678	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1192	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)					ATGGAACCCACACAGACATAT	0.368									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.(3574-3576)Gtg>Atg		dynein, axonemal, heavy chain 5							119	127	124					5																	13871697		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.chr5:13871697C>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.3574G>A	5.37:g.13871697C>T	ENSP00000265104:p.Val1192Met		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.V1192M	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			23	3678	-	Lung NSC(4;0.00476)		1192			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3574G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463113	0.84425	.	.	ENSG00000039139	ENST00000265104	T	0.25912	1.77	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.88377	2.95	0.80722	D	1	P	0.39404	0.672	P	0.45753	0.492	T	0.53774	-0.8391	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1192	Q8TE73	DYH5_HUMAN	M	1192	ENSP00000265104:V1192M	ENSP00000265104:V1192M	V	-	1	0	DNAH5	13924697	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.763000	0.68818	2.840000	0.97914	0.655000	0.94253	GTG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		43	46	43	46	---	---	---	---	T	13871697	C	T	13871697	3	4	324	1	0	0	0	0	1	0	0	0	4604	478	17	2	10528	2	DNAH5	5	13871697	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		13871697	167043563	18	11652										
GFPT2	9945	broad.mit.edu	37	chr5	179740918	179740918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgcccacggtgagagcgccGcggtccttacagtagcgcag	14	14	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:179740918G>A	ENST00000253778.8	-	14	1489	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	440	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)	TGAGAGCGCCGCGGTCCTTAC	0.726																																						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.(1318-1320)cgC>cgT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						18	24	22					5																	179740918		2157	4251	6408	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.chr5:179740918G>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.1320C>T	5.37:g.179740918G>A			Somatic					p.R440R	NM_005110.2	NP_005101.1	WXS	Illumina GAIIx	Phase_I	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1489	-	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)	440			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1320C>T	CCDS43411.1																																																																																				0.726	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		12	13	12	13	---	---	---	---	A	179740918	G	A	179740918	2	1	324	1	0	0	0	0	0	0	0	1	6346	1074	38	2		2	GFPT2	5	179740918	Silent	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	165869221	179740918	1174342	19	11653										
TRIM10	10107	broad.mit.edu	37	chr6	30128486	30128486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caagtaggggactcctccagGtctgggcctggtatctcaca	12	12	2	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:30128486G>T	ENST00000449742.2	-	1	225	c.150C>A	c.(148-150)gaC>gaA	p.D50E	TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E|TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	50					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						ACTCCTCCAGGTCTGGGCCTG	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(148-150)gaC>gaA		tripartite motif containing 10							135	142	140					6																	30128486		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128486G>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.150C>A	6.37:g.30128486G>T	ENSP00000397073:p.Asp50Glu		Somatic				TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	p.D50E	NM_006778.3	NP_006769.2	WXS	Illumina GAIIx	Phase_I	Q9UDY6	TRI10_HUMAN			1	225	-			50					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.150C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244880	0.05906	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.63255	-0.03;0.16	5.23	-3.59	0.04583	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.500915	0.18211	N	0.148185	T	0.10981	0.0268	N	0.17312	0.475	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.13407	0.009;0.009	T	0.28554	-1.0040	10	0.06891	T	0.86	.	2.0066	0.03478	0.1457:0.2821:0.3242:0.248	.	50;50	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	E	50	ENSP00000397073:D50E;ENSP00000365894:D50E	ENSP00000365894:D50E	D	-	3	2	TRIM10	30236465	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.717000	0.01876	-0.712000	0.04988	0.549000	0.68633	GAC		0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			33	127	33	127	---	---	---	---	T	30128486	G	T	30128486	3	4	324	1	0	0	0	0	1	0	0	0	16483	1252	44	3	1411	3	TRIM10	6	30128486	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		30128486	140986581	20	11654										
SLC22A3	6581	broad.mit.edu	37	chr6	160857879	160857879	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ggtgagaactccccaaatgaGgaaatgcacacttattctta							TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:160857879delG	ENST00000275300.2	+	6	1195	c.1043delG	c.(1042-1044)aggfs	p.R348fs	SLC22A3_ENST00000392145.1_Frame_Shift_Del_p.R348fs	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	348					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)			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)	CCCCAAATGAGGAAATGCACA	0.353																																						ENST00000392145.1																			0				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.(1042-1044)aggfs		solute carrier family 22 (organic cation transporter), member 3							120	109	113					6																	160857879		2203	4300	6503	SO:0001589	frameshift_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160857879delG	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.1043delG	6.37:g.160857879delG	ENSP00000275300:p.Arg348fs		Somatic				SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs	p.R348fs			WXS	Illumina GAIIx	Phase_I	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	6	1070	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	348					Q5SYN6|Q9UP02	Frame_Shift_Del	DEL	ENST00000275300.2	37	c.1043delG	CCDS5277.1																																																																																				0.353	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		13	63	13	63	---	---	---	---	-	160857879	G	-	160857879	7	5	324	1	0	1	0	1	0	0	0	0	14455	1000	35	0	1065	0	SLC22A3	6	160857879	Frame_Shift_Del	DEL	G	TCGA-YL-A8SQ-01B-11D-A377-08	130729393	160857879	10257188	21	11655										
DNAH11	8701	broad.mit.edu	37	chr7	21920441	21920441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagggctggagccgaagctAtccttttaatcctggagacc	11	12	0	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr7:21920441A>G	ENST00000409508.3	+	75	12348	c.12317A>G	c.(12316-12318)tAt>tGt	p.Y4106C	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y4113C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4113	AAA 6. {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						AGCCGAAGCTATCCTTTTAAT	0.483									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.(12337-12339)tAt>tGt		dynein, axonemal, heavy chain 11							87	86	86					7																	21920441		1864	4099	5963	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.chr7:21920441A>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.12317A>G	7.37:g.21920441A>G	ENSP00000475939:p.Tyr4106Cys		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C	p.Y4113C			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			76	12369	+			4113			AAA 6 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12338A>G		.	.	.	.	.	.	.	.	.	.	A	17.50	3.405937	0.62288	.	.	ENSG00000105877	ENST00000328843	T	0.25579	1.79	5.66	5.66	0.87406	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58713	-0.7588	9	0.87932	D	0	.	15.9009	0.79377	1.0:0.0:0.0:0.0	.	4113	Q96DT5	DYH11_HUMAN	C	4113	ENSP00000330671:Y4113C	ENSP00000330671:Y4113C	Y	+	2	0	DNAH11	21886966	1.000000	0.71417	0.944000	0.38274	0.527000	0.34593	5.242000	0.65389	2.173000	0.68751	0.533000	0.62120	TAT		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	80	12	80	---	---	---	---	G	21920441	A	G	21920441	3	3	324	1	0	0	0	0	1	0	0	0	4599	449	16	2	12637	2	DNAH11	7	21920441	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		21920441	137218222	22	11656										
TNFSF15	9966	broad.mit.edu	37	chr9	117552950	117552950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctgttaccttggtgatgaCcacagtgatggagtctggct	13	8	2	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:117552950C>T	ENST00000374045.4	-	4	651	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTGGTGATGACCACAGTGATG	0.522																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(538-540)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 15							231	181	198					9																	117552950		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552950C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.538G>A	9.37:g.117552950C>T	ENSP00000363157:p.Val180Ile		Somatic				TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	p.V180I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	WXS	Illumina GAIIx	Phase_I	O95150	TNF15_HUMAN			4	651	-			180					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.538G>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.63580	-0.05;-0.05	6.03	1.65	0.23941	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.706519	0.14104	N	0.341219	T	0.44222	0.1283	N	0.25825	0.765	0.24919	N	0.992	B;B	0.12013	0.005;0.001	B;B	0.20184	0.028;0.008	T	0.27905	-1.0060	10	0.32370	T	0.25	-25.4202	5.9951	0.19489	0.0:0.4108:0.1417:0.4475	.	180;121	O95150;O95150-2	TNF15_HUMAN;.	I	180;103	ENSP00000363157:V180I;ENSP00000363156:V103I	ENSP00000363156:V103I	V	-	1	0	TNFSF15	116592771	0.863000	0.29885	0.766000	0.31476	0.994000	0.84299	0.502000	0.22594	0.362000	0.24319	-0.211000	0.12701	GTC		0.522	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		11	48	11	48	---	---	---	---	T	117552950	C	T	117552950	3	4	324	1	0	0	0	0	1	0	0	0	16305	507	18	2	221	2	TNFSF15	9	117552950	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		117552950	23660481	23	11657										
HERC4	26091	broad.mit.edu	37	chr10	69748522	69748522	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtagagtttcaaaagatgTaccacaacttccttaaaaag	6	7	1	2			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr10:69748522T>G	ENST00000395198.3	-	15	1951	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	HERC4_ENST00000373700.4_Silent_p.V568V|HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.V458V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	568					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						TCAAAAGATGTACCACAACTT	0.328																																						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.(1702-1704)gtA>gtC		HECT and RLD domain containing E3 ubiquitin protein ligase 4							115	125	122					10																	69748522		2203	4293	6496	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69748522T>G	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.1704A>C	10.37:g.69748522T>G			Somatic				HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V	p.V568V	NM_022079.2	NP_071362.1	WXS	Illumina GAIIx	Phase_I	Q5GLZ8	HERC4_HUMAN			15	1951	-			568					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.1704A>C	CCDS41533.1																																																																																				0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		5	143	5	143	---	---	---	---	G	69748522	T	G	69748522	2	3	324	1	0	0	0	0	0	0	0	1	7060	1625	57	5		5	HERC4	10	69748522	Silent	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		69748522	65786225	24	11658										
LRFN4	78999	broad.mit.edu	37	chr11	66625250	66625251	+	Frame_Shift_Del	DEL	GT	GT	-													0	0	1	0	0	0	1	1	0	cctgctgctgctgctggccaGtggagcggccgcctgcccgc							TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:66625250_66625251delGT	ENST00000309602.4	+	1	278_279	c.35_36delGT	c.(34-36)agtfs	p.S12fs	LRFN4_ENST00000531590.1_3'UTR|LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	12						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCTGGCCAGTGGAGCGGCCG	0.713																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(34-36)agtfs		leucine rich repeat and fibronectin type III domain containing 4																																				SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66625250_66625251delGT	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.35_36delGT	11.37:g.66625250_66625251delGT	ENSP00000312535:p.Ser12fs		Somatic				LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	p.S12fs	NM_024036.4	NP_076941.2	WXS	Illumina GAIIx	Phase_I	Q6PJG9	LRFN4_HUMAN			1	278_279	+			12					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.35_36delGT	CCDS8153.1																																																																																				0.713	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		12	20	12	20	---	---	---	---	-	66625251	GT	-	66625250	7	5	324	1	0	1	0	1	0	0	0	0	8940	1029	36	0	37	0	LRFN4	11	66625250	Frame_Shift_Del	DEL	GT	TCGA-YL-A8SQ-01B-11D-A377-08		66625250	68381266	25	11659										
NFRKB	4798	broad.mit.edu	37	chr11	129752042	129752042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	atagaagagagaagaagctgGaagatatttcattgattcca	10	4	1	6	rs555836314		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:129752042G>A	ENST00000446488.3	-	10	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F|NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	377	Winged-helix like domain.				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)		GAAGAAGCTGGAAGATATTTC	0.418											OREG0021512	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	,	,		20135	0		0	False		,,,				2504	0.001					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.(1129-1131)tCc>tTc		nuclear factor related to kappaB binding protein																																				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.chr11:129752042G>A		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.1130C>T	11.37:g.129752042G>A	ENSP00000400476:p.Ser377Phe		Somatic	OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F	p.S377F	NM_001143835.1	NP_001137307.1	WXS	Illumina GAIIx	Phase_I	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	10	1233	-	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)	377					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1130C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104773	0.56291	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.85	4.92	0.64577	.	0.349316	0.34178	N	0.004186	T	0.46171	0.1379	N	0.19112	0.55	0.38288	D	0.942625	P;P;D;P	0.58268	0.926;0.926;0.982;0.956	B;B;P;B	0.46796	0.247;0.247;0.527;0.43	T	0.56153	-0.8026	9	0.59425	D	0.04	-12.3889	16.859	0.86013	0.0:0.1285:0.8715:0.0	.	389;377;377;402	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	F	377;377;402;377;389	.	ENSP00000303800:S377F	S	-	2	0	NFRKB	129257252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.032000	0.57274	1.433000	0.47394	0.655000	0.94253	TCC		0.418	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		5	35	5	35	---	---	---	---	A	129752042	G	A	129752042	3	1	324	1	0	0	0	0	1	0	0	0	10384	1174	41	2	2837	2	NFRKB	11	129752042	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08	63126792	129752042	5254474	26	11660										
B4GALNT1	2583	broad.mit.edu	37	chr12	58020538	58020538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgggccatcactgggaggTcatgcactgcagccggtgtt	15	11	2	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:58020538T>C	ENST00000341156.4	-	11	2175	c.1591A>G	c.(1591-1593)Acc>Gcc	p.T531A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	531					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)			CACTGGGAGGTCATGCACTGC	0.592																																						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.(1591-1593)Acc>Gcc		beta-1,4-N-acetyl-galactosaminyl transferase 1							144	126	132					12																	58020538		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020538T>C	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.1591A>G	12.37:g.58020538T>C	ENSP00000341562:p.Thr531Ala		Somatic				B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	p.T531A	NM_001478.3	NP_001469.1	WXS	Illumina GAIIx	Phase_I	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	2175	-	Melanoma(17;0.122)		531					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1591A>G	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	16.15	3.042862	0.55003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.20598	2.06;2.17	4.6	4.6	0.57074	.	0.057904	0.64402	D	0.000002	T	0.17746	0.0426	L	0.45228	1.405	0.80722	D	1	B;P	0.48294	0.363;0.908	B;B	0.38616	0.138;0.277	T	0.02966	-1.1088	10	0.33940	T	0.23	-17.653	13.42	0.60992	0.0:0.0:0.0:1.0	.	476;531	B4DE26;Q00973	.;B4GN1_HUMAN	A	531;476	ENSP00000341562:T531A;ENSP00000401601:T476A	ENSP00000341562:T531A	T	-	1	0	B4GALNT1	56306805	1.000000	0.71417	0.986000	0.45419	0.574000	0.36063	2.934000	0.48956	2.083000	0.62718	0.383000	0.25322	ACC		0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		22	153	22	153	---	---	---	---	C	58020538	T	C	58020538	3	2	324	1	0	0	0	0	1	0	0	0	1266	1667	58	2	14	2	B4GALNT1	12	58020538	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		58020538	75831357	27	11661										
RAB5C	5878	broad.mit.edu	37	chr17	40280287	40280287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatctccccacctggaattCcacggctctcttgctggcca	7	17	3	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:40280287C>G	ENST00000346213.4	-	4	645	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RAB5C_ENST00000393860.3_Missense_Mutation_p.E145Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	145					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)		ACCTGGAATTCCACGGCTCTC	0.622																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(433-435)Gaa>Caa		RAB5C, member RAS oncogene family							118	100	106					17																	40280287		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.chr17:40280287C>G	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.433G>C	17.37:g.40280287C>G	ENSP00000345689:p.Glu145Gln		Somatic				RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q	p.E145Q	NM_201434.2	NP_958842.1	WXS	Illumina GAIIx	Phase_I	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	749	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	145					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.433G>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563942	0.65651	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517	T;T;T	0.77229	-1.08;-1.08;-1.08	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.046101	0.85682	D	0.000000	T	0.61362	0.2341	N	0.04373	-0.215	0.80722	D	1	B;B	0.27166	0.009;0.17	B;B	0.28849	0.016;0.095	T	0.58250	-0.7669	10	0.24483	T	0.36	-23.2974	19.1532	0.93499	0.0:1.0:0.0:0.0	.	178;145	F8W1H5;P51148	.;RAB5C_HUMAN	Q	145;145;178	ENSP00000345689:E145Q;ENSP00000377440:E145Q;ENSP00000447053:E178Q	ENSP00000345689:E145Q	E	-	1	0	RAB5C	37533813	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.622000	0.83099	2.769000	0.95229	0.655000	0.94253	GAA		0.622	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		10	42	10	42	---	---	---	---	G	40280287	C	G	40280287	3	3	324	1	0	0	0	0	1	0	0	0	12950	864	30	4	229	4	RAB5C	17	40280287	Missense_Mutation	SNP	C	TCGA-YL-A8SQ-01B-11D-A377-08		40280287	40914923	28	11662										
CDH19	28513	broad.mit.edu	37	chr18	64235830	64235830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatcgctcctctctatcaaGcttctgtatggcatatatgt	8	10	3	0			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr18:64235830G>A	ENST00000540086.1	-	3	559	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	CDH19_ENST00000262150.2_Missense_Mutation_p.L105F	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	213	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)				TCTCTATCAAGCTTCTGTATG	0.433																																						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.(313-315)Ctt>Ttt		cadherin 19, type 2							134	129	130					18																	64235830		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235830G>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.313C>T	18.37:g.64235830G>A	ENSP00000439593:p.Leu105Phe		Somatic				CDH19_ENST00000540086.1_Missense_Mutation_p.L105F	p.L105F	NM_021153.3	NP_066976.1	WXS	Illumina GAIIx	Phase_I	Q9H159	CAD19_HUMAN			3	605	-		Esophageal squamous(42;0.0132)	105			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.313C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611025	0.46631	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.74737	-0.87;-0.87	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	M	0.78916	2.43	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86957	0.2089	10	0.87932	D	0	.	14.3906	0.66975	0.0724:0.0:0.9276:0.0	.	105;105	F5H1K0;Q9H159	.;CAD19_HUMAN	F	105;105;50	ENSP00000262150:L105F;ENSP00000439593:L105F	ENSP00000262150:L105F	L	-	1	0	CDH19	62386810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.436000	0.59948	2.785000	0.95823	0.591000	0.81541	CTT		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		4	78	4	78	---	---	---	---	A	64235830	G	A	64235830	3	1	324	1	0	0	0	0	1	0	0	0	3104	971	34	2	2045	2	CDH19	18	64235830	Missense_Mutation	SNP	G	TCGA-YL-A8SQ-01B-11D-A377-08		64235830	13841418	29	11663										
ZNF845	91664	broad.mit.edu	37	chr19	53854634	53854634	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttaaggaaacatcagataAtccatttaggagcgaaacaa	7	7	2	1			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:53854634A>T	ENST00000595091.1	+	5	925	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	ZNF845_ENST00000458035.1_Missense_Mutation_p.I236F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	236					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATCAGATAATCCATTTAGG	0.373																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(706-708)Atc>Ttc		zinc finger protein 845							92	77	82					19																	53854634		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854634A>T	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.706A>T	19.37:g.53854634A>T	ENSP00000470005:p.Ile236Phe		Somatic				ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F	p.I236F	NM_138374.1	NP_612383.1	WXS	Illumina GAIIx	Phase_I	Q96IR2	ZN845_HUMAN			4	823	+			236						Missense_Mutation	SNP	ENST00000595091.1	37	c.706A>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859679	0.32884	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18338	2.22	1.91	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.66939	2.045	0.09310	N	1	D	0.59357	0.985	P	0.61477	0.889	T	0.12218	-1.0556	9	0.52906	T	0.07	.	4.2666	0.10766	0.6693:0.2006:0.1301:0.0	.	236	Q96IR2	ZN845_HUMAN	F	236	ENSP00000388311:I236F	ENSP00000412086:I236F	I	+	1	0	ZNF845	58546446	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.132000	0.15891	-0.502000	0.06596	-1.231000	0.01572	ATC		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	57	7	57	---	---	---	---	T	53854634	A	T	53854634	3	4	324	1	0	0	0	0	1	0	0	0	18188	101	4	5	716	5	ZNF845	19	53854634	Missense_Mutation	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		53854634	5274349	30	11664										
FAM83F	113828	broad.mit.edu	37	chr22	40417338	40417338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacagaaacctcctcctgcTcctgacaggacagaacgtag	10	13	0	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr22:40417338T>C	ENST00000333407.6	+	4	918	c.824T>C	c.(823-825)cTc>cCc	p.L275P	FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	275										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTCCTCCTGCTCCTGACAGGA	0.602																																						ENST00000333407.6																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(823-825)cTc>cCc		family with sequence similarity 83, member F							121	131	128					22																	40417338		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417338T>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.824T>C	22.37:g.40417338T>C	ENSP00000330432:p.Leu275Pro		Somatic				FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	p.L275P	NM_138435.2	NP_612444.2	WXS	Illumina GAIIx	Phase_I	Q8NEG4	FA83F_HUMAN			4	918	+								Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.824T>C	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894273	0.72639	.	.	ENSG00000133477	ENST00000333407	T	0.15718	2.4	4.94	4.94	0.65067	.	0.066666	0.64402	D	0.000014	T	0.29126	0.0724	L	0.60455	1.87	0.80722	D	1	D	0.53885	0.963	P	0.54629	0.757	T	0.01894	-1.1252	10	0.66056	D	0.02	-36.0005	10.6569	0.45680	0.1432:0.0:0.0:0.8568	.	275	Q8NEG4	FA83F_HUMAN	P	275	ENSP00000330432:L275P	ENSP00000330432:L275P	L	+	2	0	FAM83F	38747284	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.031000	0.70911	2.071000	0.62044	0.459000	0.35465	CTC		0.602	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		14	148	14	148	---	---	---	---	C	40417338	T	C	40417338	3	2	324	1	0	0	0	0	1	0	0	0	5638	1551	54	2	838	2	FAM83F	22	40417338	Missense_Mutation	SNP	T	TCGA-YL-A8SQ-01B-11D-A377-08		40417338	10887228	31	11665										
KDM6A	7403	broad.mit.edu	37	chrX	44945222	44945222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctgaatgacttctgtgaAaagtaggtttccaaagtaaa	9	5	2	3			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:44945222A>G	ENST00000377967.4	+	24	3587	c.3546A>G	c.(3544-3546)gaA>gaG	p.E1182E	KDM6A_ENST00000536777.1_Silent_p.E1137E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000382899.4_Silent_p.E1189E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1182	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)|p.?(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						ACTTCTGTGAAAAGTAGGTTT	0.358			"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"		7	Whole gene deletion(6)|Unknown(1)	p.0?(6)|p.?(1)	oesophagus(2)|breast(2)|pancreas(2)|central_nervous_system(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						c.(3544-3546)gaA>gaG		lysine (K)-specific demethylase 6A							133	114	120					X																	44945222		2203	4300	6503	SO:0001819	synonymous_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:44945222A>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.3546A>G	X.37:g.44945222A>G			Somatic				KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E	p.E1182E	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			24	3587	+			1182			JmjC.		Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3546A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181925	0.38511	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.67	4.31	0.51392	.	.	.	.	.	T	0.61602	0.2360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60260	-0.7298	4	.	.	.	-16.4457	11.1997	0.48734	0.9145:0.0:0.0855:0.0	.	.	.	.	E	780;825	.	.	K	+	1	0	KDM6A	44830166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.959000	0.70339	1.895000	0.54865	0.486000	0.48141	AAA		0.358	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		9	35	9	35	---	---	---	---	G	44945222	A	G	44945222	2	3	324	1	0	0	0	0	0	0	0	1	8137	11	1	2		2	KDM6A	23	44945222	Silent	SNP	A	TCGA-YL-A8SQ-01B-11D-A377-08		44945222	110325338	32	11666										
NOL9	79707	broad.mit.edu	37	chr1	6592683	6592683	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tctcatcttggtcttgctttTtgtgtacaagccatccatgt	7	10	3	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:6592683T>A	ENST00000377705.5	-	8	1407	c.1375A>T	c.(1375-1377)Aaa>Taa	p.K459*		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	459					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)		GTCTTGCTTTTTGTGTACAAG	0.463																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1375-1377)Aaa>Taa		nucleolar protein 9							206	203	204					1																	6592683		2203	4300	6503	SO:0001587	stop_gained	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592683T>A	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.1375A>T	1.37:g.6592683T>A	ENSP00000366934:p.Lys459*		Somatic					p.K459*	NM_024654.4	NP_078930	WXS	Illumina GAIIx	Phase_I	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)	8	1407	-	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)	459					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Nonsense_Mutation	SNP	ENST00000377705.5	37	c.1375A>T	CCDS80.1	.	.	.	.	.	.	.	.	.	.	T	38	6.778147	0.97833	.	.	ENSG00000162408	ENST00000377705	.	.	.	6.04	6.04	0.98038	.	0.344464	0.31358	N	0.007785	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8246	14.5284	0.67905	0.0:0.0:0.0:1.0	.	.	.	.	X	459	.	ENSP00000366934:K459X	K	-	1	0	NOL9	6515270	0.996000	0.38824	0.182000	0.23118	0.926000	0.56050	5.304000	0.65744	2.317000	0.78254	0.459000	0.35465	AAA		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		8	119	8	119	---	---	---	---	A	6592683	T	A	6592683	4	1	325	1	0	0	0	0	0	1	0	0	10528	1850	64	5	753	5	NOL9	1	6592683	Nonsense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		6592683	242657938	1	11667										
AADACL4	343066	broad.mit.edu	37	chr1	12721809	12721809	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	ttttgtcttgcagattgttaCcatggcctgtgcaattatct	8	8	2	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:12721809C>G	ENST00000376221.1	+	3	393	c.393C>G	c.(391-393)taC>taG	p.Y131*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	131						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)		CAGATTGTTACCATGGCCTGT	0.527																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(391-393)taC>taG		arylacetamide deacetylase-like 4							256	241	246					1																	12721809		2203	4300	6503	SO:0001587	stop_gained	343066					integral to membrane	carboxylesterase activity	g.chr1:12721809C>G		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.393C>G	1.37:g.12721809C>G	ENSP00000365395:p.Tyr131*		Somatic					p.Y131*	NM_001013630.1	NP_001013652.1	WXS	Illumina GAIIx	Phase_I	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	393	+	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)	131						Nonsense_Mutation	SNP	ENST00000376221.1	37	c.393C>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635871	0.47049	.	.	ENSG00000204518	ENST00000376221	.	.	.	3.86	2.94	0.34122	.	0.406531	0.25117	N	0.033014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0106	11.4002	0.49866	0.0:0.8166:0.1834:0.0	.	.	.	.	X	131	.	ENSP00000365395:Y131X	Y	+	3	2	AADACL4	12644396	0.008000	0.16893	0.088000	0.20740	0.041000	0.13682	0.008000	0.13197	1.193000	0.43086	0.561000	0.74099	TAC		0.527	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		11	86	11	86	---	---	---	---	G	12721809	C	G	12721809	4	3	325	1	0	0	0	0	0	1	0	0	13	518	18	4	403	4	AADACL4	1	12721809	Nonsense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08	6129126	12721809	236528812	2	11668										
C1orf87	127795	broad.mit.edu	37	chr1	60520927	60520927	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	cctgttagtagtttctggttGttttctgatttctggttgtt	10	5	3	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr1:60520927G>C	ENST00000371201.3	-	3	398	c.291C>G	c.(289-291)aaC>aaG	p.N97K	C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	97							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						GTTTCTGGTTGTTTTCTGATT	0.393																																					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.(289-291)aaC>aaG		chromosome 1 open reading frame 87							344	324	331					1																	60520927		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60520927G>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.291C>G	1.37:g.60520927G>C	ENSP00000360244:p.Asn97Lys		Somatic				C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K	p.N97K	NM_152377.2	NP_689590.1	WXS	Illumina GAIIx	Phase_I	Q8N0U7	CA087_HUMAN			3	398	-			97					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.291C>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030184	0.19512	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.18174	2.23	3.17	2.23	0.28157	.	0.799463	0.11159	N	0.593259	T	0.13072	0.0317	L	0.40543	1.245	0.09310	N	0.999995	P	0.36535	0.557	B	0.33750	0.169	T	0.18304	-1.0341	10	0.49607	T	0.09	.	6.607	0.22731	0.1364:0.0:0.8636:0.0	.	97	Q8N0U7	CA087_HUMAN	K	97	ENSP00000360244:N97K	ENSP00000360244:N97K	N	-	3	2	C1orf87	60293515	0.003000	0.15002	0.008000	0.14137	0.022000	0.10575	0.848000	0.27710	0.895000	0.36342	0.591000	0.81541	AAC		0.393	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		50	145	50	145	---	---	---	---	C	60520927	G	C	60520927	3	2	325	1	0	0	0	0	1	0	0	0	2064	1368	48	4	1389	4	C1orf87	1	60520927	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	47799118	60520927	188729694	3	11669										
POLR1A	25885	broad.mit.edu	37	chr2	86327179	86327179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tgaagtcctgcacgcaggtgGagcacacctctttggaatct	11	11	2	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:86327179G>T	ENST00000263857.6	-	2	572	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	65					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						CACGCAGGTGGAGCACACCTC	0.557																																						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.(193-195)tCc>tAc		polymerase (RNA) I polypeptide A, 194kDa							88	92	91					2																	86327179		1996	4178	6174	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.chr2:86327179G>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.194C>A	2.37:g.86327179G>T	ENSP00000263857:p.Ser65Tyr		Somatic				POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y	p.S65Y			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			2	572	-			65					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.194C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323564	0.81580	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.24151	1.87;1.87	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.156649	0.64402	D	0.000016	T	0.49064	0.1535	M	0.79258	2.445	0.54753	D	0.999986	P;P	0.51147	0.855;0.942	P;P	0.54312	0.579;0.748	T	0.48625	-0.9019	10	0.62326	D	0.03	-13.8907	19.9976	0.97389	0.0:0.0:1.0:0.0	.	65;65	B9ZVN9;O95602	.;RPA1_HUMAN	Y	65	ENSP00000263857:S65Y;ENSP00000386300:S65Y	ENSP00000263857:S65Y	S	-	2	0	POLR1A	86180690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.360000	0.79487	2.737000	0.93849	0.563000	0.77884	TCC		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		3	39	3	39	---	---	---	---	T	86327179	G	T	86327179	3	4	325	1	0	0	0	0	1	0	0	0	12209	1174	41	3	5100	3	POLR1A	2	86327179	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		86327179	156872194	4	11670										
ERBB4	2066	broad.mit.edu	37	chr2	212530061	212530061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tgcttacccttgggtgcagtTtggatggcatgggtggcact	15	8	0	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr2:212530061T>C	ENST00000342788.4	-	15	2168	c.1858A>G	c.(1858-1860)Aac>Gac	p.N620D	ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	620	Cys-rich.				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)	TGGGTGCAGTTTGGATGGCAT	0.478										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.(1858-1860)Aac>Gac		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							149	130	137					2																	212530061		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.chr2:212530061T>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.1858A>G	2.37:g.212530061T>C	ENSP00000342235:p.Asn620Asp	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D	p.N620D	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	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)	15	2168	-		Renal(323;0.06)|Lung NSC(271;0.197)	620			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1858A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878426	0.91740	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.86497	-2.13;-2.13;-2.13	5.56	5.56	0.83823	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	L	0.56280	1.765	0.80722	D	1	P;P;P;P;P	0.51351	0.526;0.944;0.909;0.755;0.641	B;P;P;B;B	0.49999	0.251;0.628;0.626;0.251;0.127	D	0.89897	0.4041	10	0.87932	D	0	.	15.7153	0.77663	0.0:0.0:0.0:1.0	.	620;620;479;620;620	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	D	620	ENSP00000342235:N620D;ENSP00000403204:N620D;ENSP00000385565:N620D	ENSP00000342235:N620D	N	-	1	0	ERBB4	212238306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.033000	0.88852	2.127000	0.65507	0.533000	0.62120	AAC		0.478	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		21	51	21	51	---	---	---	---	C	212530061	T	C	212530061	3	2	325	1	0	0	0	0	1	0	0	0	5209	1841	64	2	2124	2	ERBB4	2	212530061	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08	126202882	212530061	30669312	5	11671										
CIDEC	63924	broad.mit.edu	37	chr3	9911609	9911609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	gcagtgcagatcataggaaaGggagtatgtatcataaaaag	12	4	2	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:9911609G>A	ENST00000336832.2	-	5	650	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	171					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TCATAGGAAAGGGAGTATGTA	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(511-513)Ctt>Ttt		cell death-inducing DFFA-like effector c							93	84	87					3																	9911609		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911609G>A		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.511C>T	3.37:g.9911609G>A	ENSP00000338642:p.Leu171Phe		Somatic				CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F	p.L171F	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	WXS	Illumina GAIIx	Phase_I	Q96AQ7	CIDEC_HUMAN			5	650	-	Medulloblastoma(99;0.227)		171					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.511C>T	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768720	0.49680	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.89	1.89	0.25635	.	0.283478	0.34435	N	0.003970	T	0.81626	0.4862	M	0.71581	2.175	0.80722	D	1	P;D	0.56035	0.883;0.974	P;P	0.55577	0.621;0.779	T	0.78186	-0.2302	10	0.72032	D	0.01	-4.1972	2.3823	0.04357	0.1548:0.2847:0.4135:0.147	.	171;181	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	F	171;97;97;181	ENSP00000338642:L171F;ENSP00000392975:L97F;ENSP00000400649:L97F;ENSP00000408631:L181F	ENSP00000338642:L171F	L	-	1	0	CIDEC	9886609	0.994000	0.37717	0.933000	0.37362	0.425000	0.31504	1.341000	0.33907	0.388000	0.25054	0.655000	0.94253	CTT		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		3	45	3	45	---	---	---	---	A	9911609	G	A	9911609	3	1	325	1	0	0	0	0	1	0	0	0	3427	1000	35	2	213	2	CIDEC	3	9911609	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		9911609	188110821	6	11672										
XIRP1	165904	broad.mit.edu	37	chr3	39225734	39225734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	caggggactggctgagggagGggcaggttcaggttgcacag	20	7	1	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:39225734G>T	ENST00000340369.3	-	2	5431	c.5203C>A	c.(5203-5205)Cct>Act	p.P1735T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1735	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)		GCTGAGGGAGGGGCAGGTTCA	0.587																																						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.(5203-5205)Cct>Act		xin actin-binding repeat containing 1							102	94	97					3																	39225734		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39225734G>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.5203C>A	3.37:g.39225734G>T	ENSP00000343140:p.Pro1735Thr		Somatic				XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T|XIRP1_ENST00000396251.1_3'UTR	p.P1735T	NM_194293.2	NP_919269.2	WXS	Illumina GAIIx	Phase_I	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5431	-			1735			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.5203C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.210360	0.01555	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.18657	3.94;2.2	3.56	2.68	0.31781	.	7.120940	0.01047	U	0.004403	T	0.17577	0.0422	L	0.38175	1.15	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.19386	-1.0307	10	0.20046	T	0.44	.	4.4517	0.11624	0.1195:0.0:0.6604:0.2201	.	1735	Q702N8	XIRP1_HUMAN	T	1735;418	ENSP00000343140:P1735T;ENSP00000391645:P418T	ENSP00000343140:P1735T	P	-	1	0	XIRP1	39200738	0.068000	0.21057	0.003000	0.11579	0.003000	0.03518	3.816000	0.55658	0.860000	0.35481	-0.136000	0.14681	CCT		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		6	94	6	94	---	---	---	---	T	39225734	G	T	39225734	3	4	325	1	0	0	0	0	1	0	0	0	17426	1232	43	1	332	1	XIRP1	3	39225734	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	29314125	39225734	158796696	7	11673										
ATP13A4	84239	broad.mit.edu	37	chr3	193183888	193183888	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tacaaggcacaggaggaaccTgatggcatccctgtacaact	10	11	0	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr3:193183888T>G	ENST00000342695.4	-	11	1520	c.1198A>C	c.(1198-1200)Agg>Cgg	p.R400R	ATP13A4_ENST00000392443.3_Silent_p.R400R|ATP13A4_ENST00000295548.3_Silent_p.R400R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	400						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)		AGGAGGAACCTGATGGCATCC	0.448																																						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.(1198-1200)Agg>Cgg		ATPase type 13A4							255	234	241					3																	193183888		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:193183888T>G	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.1198A>C	3.37:g.193183888T>G			Somatic				ATP13A4_ENST00000295548.3_Silent_p.R400R|ATP13A4_ENST00000392443.3_Silent_p.R400R	p.R400R	NM_032279.2	NP_115655.2	WXS	Illumina GAIIx	Phase_I	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)	11	1520	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		400					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.1198A>C	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		32	119	32	119	---	---	---	---	G	193183888	T	G	193183888	2	3	325	1	0	0	0	0	0	0	0	1	1126	1579	55	5		5	ATP13A4	3	193183888	Silent	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08	153958154	193183888	4838542	8	11674										
C4orf29	80167	broad.mit.edu	37	chr4	128930134	128930134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tagacctgtatgcattcatcTtgctggaacaggagatcatg	10	8	3	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr4:128930134T>G	ENST00000444616.1	+	5	585	c.338T>G	c.(337-339)cTt>cGt	p.L113R	C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R|C4orf29_ENST00000388795.5_Missense_Mutation_p.L31R			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	113						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCATTCATCTTGCTGGAACA	0.299																																						ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(91-93)cTt>cGt		chromosome 4 open reading frame 29							89	82	84					4																	128930134		1840	4095	5935	SO:0001583	missense	80167					extracellular region		g.chr4:128930134T>G	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.338T>G	4.37:g.128930134T>G	ENSP00000397229:p.Leu113Arg		Somatic				C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R|C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R	p.L31R			WXS	Illumina GAIIx	Phase_I	Q0P651	CD029_HUMAN			5	495	+			113					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.92T>G		.	.	.	.	.	.	.	.	.	.	T	22.3	4.272228	0.80580	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000002	T	0.80904	0.4713	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84599	0.0671	9	0.87932	D	0	-19.4939	15.1875	0.73016	0.0:0.0:0.0:1.0	.	113	Q0P651	CD029_HUMAN	R	113;113;113;31;31	.	ENSP00000373447:L31R	L	+	2	0	C4orf29	129149584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.692000	0.68256	2.040000	0.60383	0.528000	0.53228	CTT		0.299	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		11	26	11	26	---	---	---	---	G	128930134	T	G	128930134	3	3	325	1	0	0	0	0	1	0	0	0	2259	1609	56	5	352	5	C4orf29	4	128930134	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		128930134	62224142	9	11675										
SNTG1	54212	broad.mit.edu	37	chr8	51617164	51617164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tccaggttttcaccaggacaGtgacctgctggaccgacgga	12	12	1	1	rs529933112		TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:51617164G>A	ENST00000522124.1	+	16	1704	c.1043G>A	c.(1042-1044)aGt>aAt	p.S348N	SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N|SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	348	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				CACCAGGACAGTGACCTGCTG	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		18621	0		0	False		,,,				2504	0					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.(1042-1044)aGt>aAt		syntrophin, gamma 1							134	112	120					8																	51617164		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617164G>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.1043G>A	8.37:g.51617164G>A	ENSP00000429842:p.Ser348Asn		Somatic				SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N	p.S348N	NM_018967.2	NP_061840.1	WXS	Illumina GAIIx	Phase_I	Q9NSN8	SNTG1_HUMAN			16	1704	+		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)	348			PH.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1043G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063022	0.76187	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.33438	1.41;1.41;2.19;2.19	5.19	5.19	0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.037292	0.85682	D	0.000000	T	0.35770	0.0943	M	0.63843	1.955	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.004	T	0.12785	-1.0534	10	0.48119	T	0.1	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	348;348	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	N	348	ENSP00000429276:S348N;ENSP00000429842:S348N;ENSP00000431123:S348N;ENSP00000276467:S348N	ENSP00000276467:S348N	S	+	2	0	SNTG1	51779717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.745000	0.62125	2.577000	0.86979	0.643000	0.83706	AGT		0.557	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	76	4	76	---	---	---	---	A	51617164	G	A	51617164	3	1	325	1	0	0	0	0	1	0	0	0	14874	1029	36	2	1097	2	SNTG1	8	51617164	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		51617164	94746858	10	11676										
ZNF7	7553	broad.mit.edu	37	chr8	146068408	146068409	+	Frame_Shift_Ins	INS	-	-	T													0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	ctgcatcagtgtgaagactgINStgagaagatatttaggtggc							TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr8:146068408_146068409insT	ENST00000528372.1	+	5	2156_2157	c.1916_1917insT	c.(1915-1920)tgtgagfs	p.E640fs	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs			P17097	ZNF7_HUMAN	zinc finger protein 7	640					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)		TGTGAAGACTGTGAGAAGATAT	0.426																																						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.(1915-1920)tgtgagfs		zinc finger protein 7																																				SO:0001589	frameshift_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068408_146068409insT	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.1917dupT	8.37:g.146068409_146068409dupT	ENSP00000432724:p.Glu640fs		Somatic				ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs	p.E640fs			WXS	Illumina GAIIx	Phase_I	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	2156_2157	+	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)	640					B4DT08|D3DWN6|P17015|Q8N8Y4	Frame_Shift_Ins	INS	ENST00000528372.1	37	c.1916_1917insT	CCDS6435.1																																																																																				0.426	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		12	112	12	112	---	---	---	---	T	146068409	-	T	146068408	7	5	325	1	0	1	1	0	0	0	0	0	18099	1377	48	0	1930	0	ZNF7	8	146068408	Frame_Shift_Ins	INS	-	TCGA-YL-A8SR-01B-11D-A377-08	94451244	146068408	295614	11	11677										
C10orf18	54906	broad.mit.edu	37	chr10	5781751	5781751	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	ccctaaatatgttagccgatCtagcattaagctctgctact	6	11	2	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr10:5781751C>G	ENST00000328090.5	+	13	2243	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	540																	GTTAGCCGATCTAGCATTAAG	0.418																																						ENST00000328090.5																			0											c.(1618-1620)Cta>Gta		family with sequence similarity 208, member B							121	112	115					10																	5781751		1908	4138	6046	SO:0001583	missense	54906							g.chr10:5781751C>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.1618C>G	10.37:g.5781751C>G	ENSP00000328426:p.Leu540Val		Somatic				RP11-336A10.2_ENST00000411512.2_RNA	p.L540V	NM_017782.4	NP_060252	WXS	Illumina GAIIx	Phase_I	Q5VWN6	CJ018_HUMAN			13	2243	+			540					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1618C>G	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706640|2.706640	0.48412|0.48412	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000328090|ENST00000380270	D|.	0.96685|.	-4.09|.	5.59|5.59	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.48767|.	D|.	0.000164|.	T|T	0.53690|0.53690	0.1812|0.1812	M|M	0.68952|0.68952	2.095|2.095	0.26220|0.26220	N|N	0.979178|0.979178	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.44726|0.44726	-0.9309|-0.9309	10|5	0.66056|.	D|.	0.02|.	.|.	9.9537|9.9537	0.41653|0.41653	0.0:0.8422:0.0:0.1578|0.0:0.8422:0.0:0.1578	.|.	540|.	Q5VWN6|.	F208B_HUMAN|.	V|C	540|238	ENSP00000328426:L540V|.	ENSP00000328426:L540V|.	L|S	+|+	1|2	2|0	C10orf18|C10orf18	5821757|5821757	0.787000|0.787000	0.28750|0.28750	0.321000|0.321000	0.25320|0.25320	0.397000|0.397000	0.30659|0.30659	1.329000|1.329000	0.33770|0.33770	0.723000|0.723000	0.32274|0.32274	0.491000|0.491000	0.48974|0.48974	CTA|TCT		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		29	77	29	77	---	---	---	---	G	5781751	C	G	5781751	3	3	325	1	0	0	0	0	1	0	0	0	1596	912	32	4	1656	4	C10orf18	10	5781751	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		5781751	129752996	12	11678										
OR4P4	81300	broad.mit.edu	37	chr11	55405907	55405907	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	taagaacattgaagtcctctGctttgtattatttttgtttt	6	5	1	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:55405907G>C	ENST00000314612.2	+	1	74	c.74G>C	c.(73-75)tGc>tCc	p.C25S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	25						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						GAAGTCCTCTGCTTTGTATTA	0.353																																						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.(73-75)tGc>tCc		olfactory receptor, family 4, subfamily P, member 4							124	115	119					11																	55405907		2181	4025	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405907G>C	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.74G>C	11.37:g.55405907G>C	ENSP00000324831:p.Cys25Ser		Somatic					p.C25S	NM_001004124.1	NP_001004124.1	WXS	Illumina GAIIx	Phase_I	Q8NGL7	OR4P4_HUMAN			1	74	+			25						Missense_Mutation	SNP	ENST00000314612.2	37	c.74G>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276038	0.23307	.	.	ENSG00000181927	ENST00000314612	T	0.02944	4.1	5.02	3.0	0.34707	.	0.348394	0.21229	N	0.078016	T	0.03739	0.0106	N	0.25332	0.735	0.09310	N	1	P	0.38370	0.628	P	0.47346	0.544	T	0.35351	-0.9792	10	0.54805	T	0.06	-3.3595	6.2079	0.20613	0.0871:0.0:0.4423:0.4705	.	25	Q8NGL7	OR4P4_HUMAN	S	25	ENSP00000324831:C25S	ENSP00000324831:C25S	C	+	2	0	OR4P4	55162483	0.000000	0.05858	0.062000	0.19696	0.189000	0.23516	0.610000	0.24253	1.120000	0.41904	0.626000	0.83405	TGC		0.353	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		3	56	3	56	---	---	---	---	C	55405907	G	C	55405907	3	2	325	1	0	0	0	0	1	0	0	0	11080	1319	46	4	76	4	OR4P4	11	55405907	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		55405907	79600609	13	11679										
SLC22A9	114571	broad.mit.edu	37	chr11	63137888	63137888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	gagccctgtgtggatggctgGgtgtatgacagaatctcctt	14	8	1	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr11:63137888G>T	ENST00000279178.3	+	1	609	c.360G>T	c.(358-360)tgG>tgT	p.W120C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	120					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						TGGATGGCTGGGTGTATGACA	0.507																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(358-360)tgG>tgT		solute carrier family 22 (organic anion transporter), member 9							123	103	110					11																	63137888		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137888G>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.360G>T	11.37:g.63137888G>T	ENSP00000279178:p.Trp120Cys		Somatic				SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C	p.W120C	NM_080866.2	NP_543142.2	WXS	Illumina GAIIx	Phase_I	Q8IVM8	S22A9_HUMAN			1	609	+			120					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.360G>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217608	0.39201	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	D;D	0.84800	-1.9;-1.9	3.48	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94653	0.8276	H	0.97516	4.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95892	0.8908	10	0.87932	D	0	.	13.0042	0.58694	0.0:0.0:1.0:0.0	.	120	Q8IVM8	S22A9_HUMAN	C	120	ENSP00000311527:W120C;ENSP00000279178:W120C	ENSP00000279178:W120C	W	+	3	0	SLC22A9	62894464	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	6.991000	0.76232	2.025000	0.59659	0.134000	0.15878	TGG		0.507	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		15	57	15	57	---	---	---	---	T	63137888	G	T	63137888	3	4	325	1	0	0	0	0	1	0	0	0	14461	1241	43	1	362	1	SLC22A9	11	63137888	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	7731981	63137888	71868628	14	11680										
C1S	716	broad.mit.edu	37	chr12	7169982	7169982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	gaactgtgcgtatgactcagTgcaggtatgttataagcaca	11	7	1	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:7169982T>C	ENST00000406697.1	+	6	837	c.209T>C	c.(208-210)gTg>gCg	p.V70A	C1S_ENST00000360817.5_Missense_Mutation_p.V70A|C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000402681.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent	70	CUB 1. {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)	TATGACTCAGTGCAGGTATGT	0.463																																					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.(208-210)gTg>gCg		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)						117	107	111					12																	7169982		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.chr12:7169982T>C		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.209T>C	12.37:g.7169982T>C	ENSP00000385035:p.Val70Ala		Somatic				C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000360817.5_Missense_Mutation_p.V70A	p.V70A			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			6	837	+			70			CUB 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.209T>C	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383571	0.82792	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000423384;ENST00000413211;ENST00000403949	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.77	5.77	0.91146	CUB (5);	0.000000	0.38548	N	0.001655	T	0.75087	0.3802	H	0.96111	3.77	0.80722	D	1	D	0.61080	0.989	D	0.69479	0.964	T	0.83245	-0.0056	10	0.59425	D	0.04	.	16.1024	0.81184	0.0:0.0:0.0:1.0	.	70	P09871	C1S_HUMAN	A	70;70;70;52;70;70;70	ENSP00000385035:V70A;ENSP00000328173:V70A;ENSP00000354057:V70A;ENSP00000399892:V70A;ENSP00000406643:V70A;ENSP00000384464:V70A	ENSP00000328173:V70A	V	+	2	0	C1S	7040243	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.452000	0.73485	2.200000	0.70718	0.459000	0.35465	GTG		0.463	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		31	41	31	41	---	---	---	---	C	7169982	T	C	7169982	3	2	325	1	0	0	0	0	1	0	0	0	1974	1696	59	2	215	2	C1S	12	7169982	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		7169982	126681913	15	11681										
KIAA0748	9840	broad.mit.edu	37	chr12	55361659	55361659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	actgtcctgcttcctcagaaAatccttcttcagagtatcta	5	12	4	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:55361659A>T	ENST00000449076.1	-	4	356	c.224T>A	c.(223-225)tTt>tAt	p.F75Y	TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	75					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TTCCTCAGAAAATCCTTCTTC	0.373																																						ENST00000449076.1																			0											c.(223-225)tTt>tAt		thymocyte expressed, positive selection associated 1							91	87	88					12																	55361659		1849	4107	5956	SO:0001583	missense	9840							g.chr12:55361659A>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.224T>A	12.37:g.55361659A>T	ENSP00000400892:p.Phe75Tyr		Somatic				TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y	p.F75Y	NM_001136030.2	NP_001129502.1	WXS	Illumina GAIIx	Phase_I	A2RU30	K0748_HUMAN			4	356	-			75					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.224T>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450380	0.43531	.	.	ENSG00000135426	ENST00000449076;ENST00000316577;ENST00000524668	T;T	0.47528	0.84;0.84	4.74	3.62	0.41486	.	.	.	.	.	T	0.35451	0.0932	L	0.29908	0.895	0.23731	N	0.996994	B	0.25105	0.118	B	0.31751	0.135	T	0.18085	-1.0348	9	0.36615	T	0.2	.	6.2952	0.21081	0.8914:0.0:0.1086:0.0	.	75	A2RU30	K0748_HUMAN	Y	75	ENSP00000400892:F75Y;ENSP00000312679:F75Y	ENSP00000312679:F75Y	F	-	2	0	KIAA0748	53647926	0.857000	0.29778	0.397000	0.26308	0.902000	0.53008	2.949000	0.49074	2.086000	0.62901	0.533000	0.62120	TTT		0.373	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		11	27	11	27	---	---	---	---	T	55361659	A	T	55361659	3	4	325	1	0	0	0	0	1	0	0	0	8190	14	1	5	1369	5	KIAA0748	12	55361659	Missense_Mutation	SNP	A	TCGA-YL-A8SR-01B-11D-A377-08	48191677	55361659	78490236	16	11682										
C12orf64	283310	broad.mit.edu	37	chr12	80647288	80647288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	ttgcatctccttggaaaattGcccatgcggttttcatggat	9	9	2	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:80647288G>T	ENST00000547103.1	+	13	1307	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	OTOGL_ENST00000458043.2_Missense_Mutation_p.C434F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	434	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.C434F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGGAAAATTGCCCATGCGGT	0.353																																						ENST00000458043.2																			1	Substitution - Missense(1)	p.C434F(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1300-1302)tGc>tTc		otogelin-like							162	155	157					12																	80647288		1841	4097	5938	SO:0001583	missense	283310							g.chr12:80647288G>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.1301G>T	12.37:g.80647288G>T	ENSP00000447211:p.Cys434Phe		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F	p.C434F	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					13	1307	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1301G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.244939	0.79912	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.99532	-6.1;-6.1	5.71	5.71	0.89125	.	.	.	.	.	D	0.99809	0.9917	H	0.97023	3.925	0.80722	D	1	.	.	.	.	.	.	D	0.97083	0.9785	7	0.87932	D	0	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	F	434	ENSP00000447211:C434F;ENSP00000400895:C434F	ENSP00000400895:C434F	C	+	2	0	OTOGL	79171419	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.724000	0.91462	2.699000	0.92147	0.650000	0.86243	TGC		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		11	39	11	39	---	---	---	---	T	80647288	G	T	80647288	3	4	325	1	0	0	0	0	1	0	0	0	1707	1319	46	3	1351	3	C12orf64	12	80647288	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	25285629	80647288	53204607	17	11683										
PLXNC1	10154	broad.mit.edu	37	chr12	94603368	94603368	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	gttgcctcgtttttttaggtGcacttttcaaggagattgtg	11	6	1	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr12:94603368G>T	ENST00000258526.4	+	5	1691	c.1442G>T	c.(1441-1443)tGc>tTc	p.C481F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	481					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						TTTTTTAGGTGCACTTTTCAA	0.393																																						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.(1441-1443)tGc>tTc		plexin C1							182	187	186					12																	94603368		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94603368G>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.1442G>T	12.37:g.94603368G>T	ENSP00000258526:p.Cys481Phe		Somatic					p.C481F	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			5	1691	+			481					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1442G>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315401	0.60524	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	D;D	0.91464	-2.85;-2.85	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.92833	3.35	0.80722	D	1	P	0.51449	0.945	P	0.50490	0.642	D	0.95536	0.8608	10	0.87932	D	0	.	15.5041	0.75725	0.0:0.0:1.0:0.0	.	481	O60486	PLXC1_HUMAN	F	481;97	ENSP00000258526:C481F;ENSP00000447843:C97F	ENSP00000258526:C481F	C	+	2	0	PLXNC1	93127499	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	4.834000	0.62774	2.728000	0.93425	0.655000	0.94253	TGC		0.393	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	142	4	142	---	---	---	---	T	94603368	G	T	94603368	3	4	325	1	0	0	0	0	1	0	0	0	12126	1319	46	3	1460	3	PLXNC1	12	94603368	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08	13956080	94603368	39248527	18	11684										
ANPEP	290	broad.mit.edu	37	chr15	90349645	90349645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tggtggccgaggcggggttgGtggtggctgaggcggacggg	25	6	0	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr15:90349645G>A	ENST00000300060.6	-	2	483	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	57	Cytosolic Ser/Thr-rich junction.				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)	GGCGGGGTTGGTGGTGGCTGA	0.607																																					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.(169-171)aCc>aTc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						107	110	109					15																	90349645		2200	4299	6499	SO:0001583	missense	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.chr15:90349645G>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.170C>T	15.37:g.90349645G>A	ENSP00000300060:p.Thr57Ile		Somatic					p.T57I	NM_001150.2	NP_001141.2	WXS	Illumina GAIIx	Phase_I	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)		2	483	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		57			Cytosolic Ser/Thr-rich junction.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.170C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	7.000	0.554742	0.13436	.	.	ENSG00000166825	ENST00000300060	T	0.01323	5.01	4.2	3.23	0.37069	.	0.604741	0.17404	N	0.175422	T	0.01627	0.0052	L	0.36672	1.1	0.09310	N	1	B	0.26635	0.155	B	0.21151	0.033	T	0.45041	-0.9288	10	0.39692	T	0.17	.	11.7493	0.51839	0.0:0.1782:0.8218:0.0	.	57	P15144	AMPN_HUMAN	I	57	ENSP00000300060:T57I	ENSP00000300060:T57I	T	-	2	0	ANPEP	88150649	0.023000	0.18921	0.021000	0.16686	0.021000	0.10359	2.157000	0.42320	1.882000	0.54519	0.467000	0.42956	ACC		0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	102	5	102	---	---	---	---	A	90349645	G	A	90349645	3	1	325	1	0	0	0	0	1	0	0	0	710	1261	44	2	2813	2	ANPEP	15	90349645	Missense_Mutation	SNP	G	TCGA-YL-A8SR-01B-11D-A377-08		90349645	12181747	19	11685										
IGSF6	10261	broad.mit.edu	37	chr16	21658767	21658767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	tcatgagtgtagtccacttcTaggtaccacggttgtgtgac	11	9	2	2			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr16:21658767T>C	ENST00000268389.4	-	2	175	c.114A>G	c.(112-114)ctA>ctG	p.L38L	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	38	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		AGTCCACTTCTAGGTACCACG	0.552																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(112-114)ctA>ctG		immunoglobulin superfamily, member 6							100	78	85					16																	21658767		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658767T>C	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.114A>G	16.37:g.21658767T>C			Somatic				METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.L38L	NM_005849.3	NP_005840.2	WXS	Illumina GAIIx	Phase_I	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	175	-			38			Ig-like C2-type.		Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.114A>G	CCDS10599.1																																																																																				0.552	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			11	38	11	38	---	---	---	---	C	21658767	T	C	21658767	2	2	325	1	0	0	0	0	0	0	0	1	7603	1509	53	2		2	IGSF6	16	21658767	Silent	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		21658767	68695986	20	11686										
MPP2	4355	broad.mit.edu	37	chr17	41958703	41958703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	atgagcccagcactgcccccTtcgacatggcatgcctaaaa	8	15	0	1			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr17:41958703T>A	ENST00000461854.1	-	9	985	c.900A>T	c.(898-900)gaA>gaT	p.E300D	MPP2_ENST00000520305.1_Missense_Mutation_p.E137D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000269095.4_Missense_Mutation_p.E276D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		CACTGCCCCCTTCGACATGGC	0.582											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.(826-828)gaA>gaT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							83	85	85					17																	41958703		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958703T>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.900A>T	17.37:g.41958703T>A	ENSP00000428286:p.Glu300Asp		Somatic	OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D	p.E276D	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	WXS	Illumina GAIIx	Phase_I	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	8	1132	-		Breast(137;0.00314)	300			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.828A>T		.	.	.	.	.	.	.	.	.	.	t	13.76	2.333128	0.41297	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.1	-0.224	0.13115	.	.	.	.	.	T	0.70579	0.3240	L	0.31476	0.935	0.51482	D	0.999923	B;B	0.14012	0.009;0.007	B;B	0.21360	0.034;0.011	T	0.55477	-0.8135	9	0.29301	T	0.29	.	9.1251	0.36810	0.0:0.3227:0.0:0.6773	.	321;293	E7EV80;Q14168-3	.;.	D	293;276;300;137;265;265;321	ENSP00000366389:E293D;ENSP00000269095:E276D;ENSP00000428286:E300D;ENSP00000428136:E137D;ENSP00000430540:E265D;ENSP00000438012:E265D;ENSP00000428182:E321D	ENSP00000269095:E276D	E	-	3	2	MPP2	39314229	0.004000	0.15560	0.987000	0.45799	0.782000	0.44232	-1.404000	0.02494	-0.105000	0.12132	0.454000	0.30748	GAA		0.582	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		20	46	20	46	---	---	---	---	A	41958703	T	A	41958703	3	1	325	1	0	0	0	0	1	0	0	0	9734	1606	56	5	854	5	MPP2	17	41958703	Missense_Mutation	SNP	T	TCGA-YL-A8SR-01B-11D-A377-08		41958703	39236507	21	11687										
ABCA7	10347	broad.mit.edu	37	chr19	1045143	1045143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	ttcagaccccacagagcaccCaaccccagacctgggccccg	8	20	1	3			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr19:1045143C>T	ENST00000263094.6	+	12	1589	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	453					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)		ACAGAGCACCCAACCCCAGAC	0.627																																						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.(1357-1359)cCa>cTa		ATP-binding cassette, sub-family A (ABC1), member 7							53	55	54					19																	1045143		2203	4299	6502	SO:0001583	missense	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.chr19:1045143C>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.1358C>T	19.37:g.1045143C>T	ENSP00000263094:p.Pro453Leu		Somatic				ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L	p.P453L	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	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)	12	1589	+		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)	453					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1358C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016380	0.35606	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.96885	-4.16;-4.16	3.61	2.54	0.30619	.	.	.	.	.	D	0.90648	0.7067	N	0.14661	0.345	0.09310	N	1	B;B	0.26809	0.16;0.041	B;B	0.21917	0.037;0.017	D	0.84538	0.0637	9	0.87932	D	0	.	9.529	0.39182	0.0:0.783:0.217:0.0	.	315;453	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	453	ENSP00000263094:P453L;ENSP00000414062:P453L	ENSP00000263094:P453L	P	+	2	0	ABCA7	996143	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	1.810000	0.38932	0.775000	0.33450	0.462000	0.41574	CCA		0.627	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	66	23	66	---	---	---	---	T	1045143	C	T	1045143	3	4	325	1	0	0	0	0	1	0	0	0	37	594	21	2	1400	2	ABCA7	19	1045143	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		1045143	58083840	22	11688										
BLCAP	10904	broad.mit.edu	37	chr20	36147327	36147327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	1	1	0.871345029239766	1.96052631578947	0	1	1	0	aggccgttaggtgcccacaaCgccgggatcatgcgccgatt	13	13	1	0			TCGA-YL-A8SR-01B-11D-A377-08	TCGA-YL-A8SR-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11c34a2d-0b7e-42d7-964b-b4882815490c	f07e44d4-d773-4542-abd8-921540b147bb	g.chr20:36147327C>T	ENST00000373537.2	-	2	564	c.250G>A	c.(250-252)Gtt>Att	p.V84I	BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000414542.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	84					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				GTGCCCACAACGCCGGGATCA	0.547																																						ENST00000414542.2																			0				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(250-252)Gtt>Att		bladder cancer associated protein							65	65	65					20																	36147327		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147327C>T	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.250G>A	20.37:g.36147327C>T	ENSP00000362637:p.Val84Ile		Somatic				BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I	p.V84I	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	WXS	Illumina GAIIx	Phase_I	P62952	BLCAP_HUMAN			3	697	-		Myeloproliferative disorder(115;0.00878)	84					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.250G>A	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015923	0.02078	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	2.88	0.33553	.	0.170852	0.49916	N	0.000135	T	0.13500	0.0327	.	.	.	0.20926	N	0.999828	B	0.02656	0.0	B	0.01281	0.0	T	0.30650	-0.9971	8	0.02654	T	1	.	8.3438	0.32261	0.0:0.7914:0.0:0.2086	.	84	P62952	BLCAP_HUMAN	I	84	.	ENSP00000362637:V84I	V	-	1	0	BLCAP	35580741	1.000000	0.71417	0.389000	0.26208	0.832000	0.47134	3.295000	0.51794	1.299000	0.44798	0.585000	0.79938	GTT		0.547	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	NM_006698		14	34	14	34	---	---	---	---	T	36147327	C	T	36147327	3	4	325	1	0	0	0	0	1	0	0	0	1442	536	19	2	17	2	BLCAP	20	36147327	Missense_Mutation	SNP	C	TCGA-YL-A8SR-01B-11D-A377-08		36147327	26878193	23	11689										
PRDM16	63976	broad.mit.edu	37	chr1	3328822	3328822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cagctgctgactgcaacgggCgccgccggggactccatcaa	13	15	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:3328822C>T	ENST00000270722.5	+	9	2110	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378398.3_Silent_p.G688G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	687	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				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)		CTGCAACGGGCGCCGCCGGGG	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.(2062-2064)ggC>ggT		PR domain containing 16							49	60	56					1																	3328822		2008	4160	6168	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.chr1:3328822C>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.2061C>T	1.37:g.3328822C>T			Somatic				PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.G688G	p.G688G			WXS	Illumina GAIIx	Phase_I	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	2146	+	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)	687			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2064C>T	CCDS41236.2																																																																																				0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	43	18	43	---	---	---	---	T	3328822	C	T	3328822	2	4	326	1	0	0	0	0	0	0	0	1	12457	755	27	2		2	PRDM16	1	3328822	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		3328822	245921799	1	11690										
RNF186	54546	broad.mit.edu	37	chr1	20141158	20141158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gggctgccacgtggtttgcaCttacttcatcctgtccatcc	9	14	1	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:20141158C>T	ENST00000375121.2	-	1	613	c.437G>A	c.(436-438)aGt>aAt	p.S146N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	146						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)		GTGGTTTGCACTTACTTCATC	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(436-438)aGt>aAt		ring finger protein 186							97	115	109					1																	20141158		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141158C>T		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.437G>A	1.37:g.20141158C>T	ENSP00000364263:p.Ser146Asn		Somatic				RP11-91K11.2_ENST00000454736.1_RNA	p.S146N	NM_019062.1	NP_061935.1	WXS	Illumina GAIIx	Phase_I	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	613	-		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)	146					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.437G>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009104	0.07912	.	.	ENSG00000178828	ENST00000375121	T	0.33654	1.4	5.71	1.62	0.23740	.	0.685525	0.13903	N	0.354741	T	0.16599	0.0399	N	0.04880	-0.145	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.21449	-1.0245	10	0.33940	T	0.23	-3.5764	6.7307	0.23381	0.0:0.5579:0.2415:0.2006	.	146	Q9NXI6	RN186_HUMAN	N	146	ENSP00000364263:S146N	ENSP00000364263:S146N	S	-	2	0	RNF186	20013745	0.001000	0.12720	0.099000	0.21106	0.196000	0.23810	0.214000	0.17541	0.317000	0.23160	0.655000	0.94253	AGT		0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	80	5	80	---	---	---	---	T	20141158	C	T	20141158	3	4	326	1	0	0	0	0	1	0	0	0	13469	565	20	2	250	2	RNF186	1	20141158	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	16812336	20141158	229109463	2	11691										
TRIM33	51592	broad.mit.edu	37	chr1	114968071	114968071	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	tgtagtaacacgatacttacCtgttgttgtaacatctgagg	9	7	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:114968071C>T	ENST00000358465.2	-	9	1778	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q|TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	565					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)		CGATACTTACCTGTTGTTGTA	0.383			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.(1693-1695)caG>caA		tripartite motif containing 33							246	249	248					1																	114968071		2203	4300	6503	SO:0001630	splice_region_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.chr1:114968071C>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.1695+1G>A	1.37:g.114968071C>T			Somatic				TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q	p.Q565Q	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	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	1778	-	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)	565					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37	c.1695G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610983	0.28712	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	2.99	0.34606	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	-6.7369	10.9116	0.47112	0.0:0.8476:0.0:0.1524	.	.	.	.	N	302	.	.	S	-	2	0	TRIM33	114769594	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.190000	0.58365	0.577000	0.29470	0.650000	0.86243	AGC		0.383	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Silent	42	85	42	85	---	---	---	---	T	114968071	C	T	114968071	5	4	326	1	0	0	0	0	0	0	1	0	16504	695	24	2	1736	2	TRIM33	1	114968071	Splice_Site	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	94826913	114968071	134282550	3	11692										
SHE	126669	broad.mit.edu	37	chr1	154459160	154459160	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ctcagctccttcaaactggaCtggaaggaagactccattta	8	11	2	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:154459160C>G	ENST00000304760.2	-	4	1111		c.e4-1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			TCAAACTGGACTGGAAGGAAG	0.542																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.e4-1		Src homology 2 domain containing E							67	60	63					1																	154459160		2203	4300	6503	SO:0001630	splice_region_variant	126669							g.chr1:154459160C>G	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1025-1G>C	1.37:g.154459160C>G			Somatic						NM_001010846.2	NP_001010846.1	WXS	Illumina GAIIx	Phase_I	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1111	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							Q8TEQ5	Splice_Site	SNP	ENST00000304760.2	37		CCDS30877.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373545	0.82573	.	.	ENSG00000169291	ENST00000555188;ENST00000304760	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4953	0.90863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHE	152725784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.785000	0.95823	0.591000	0.81541	.		0.542	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	Intron	23	20	23	20	---	---	---	---	G	154459160	C	G	154459160	5	3	326	1	0	0	0	0	0	0	1	0	14276	579	20	4	475	4	SHE	1	154459160	Splice_Site	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	39491089	154459160	94791461	4	11693										
CD5L	922	broad.mit.edu	37	chr1	157804238	157804238	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cttcatcatggttgcaggtgTtcttcccccaaggcccagaa	9	13	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:157804238T>G	ENST00000368174.4	-	4	773	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	226	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)			GTTGCAGGTGTTCTTCCCCCA	0.493																																						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.(676-678)aAc>aCc		CD5 molecule-like							54	47	49					1																	157804238		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804238T>G	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.677A>C	1.37:g.157804238T>G	ENSP00000357156:p.Asn226Thr		Somatic					p.N226T	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	773	-	all_hematologic(112;0.0378)		226			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.677A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298841	0.40694	.	.	ENSG00000073754	ENST00000368174	T	0.34859	1.34	4.87	-3.67	0.04476	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.453140	0.04150	N	0.321116	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	B	0.26147	0.143	B	0.34093	0.175	T	0.42882	-0.9425	10	0.56958	D	0.05	.	7.1112	0.25390	0.1069:0.3572:0.0:0.5359	.	226	O43866	CD5L_HUMAN	T	226	ENSP00000357156:N226T	ENSP00000357156:N226T	N	-	2	0	CD5L	156070862	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.142000	0.16096	-1.448000	0.01941	-2.096000	0.00365	AAC		0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	20	25	20	---	---	---	---	G	157804238	T	G	157804238	3	3	326	1	0	0	0	0	1	0	0	0	3027	1725	60	5	378	5	CD5L	1	157804238	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	3345078	157804238	91446383	5	11694										
SMEK2	57223	broad.mit.edu	37	chr2	55825874	55825874	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ccttatttaggaataagattCctctaataatttcatacaaa	3	7	2	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:55825874C>G	ENST00000345102.5	-	4	900	c.599G>C	c.(598-600)gGa>gCa	p.G200A	SMEK2_ENST00000272313.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	200					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)			GAATAAGATTCCTCTAATAAT	0.373																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(598-600)gGa>gCa		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							67	71	69					2																	55825874		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825874C>G	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.599G>C	2.37:g.55825874C>G	ENSP00000339769:p.Gly200Ala		Somatic				SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A	p.G200A	NM_020463.2	NP_065196.1	WXS	Illumina GAIIx	Phase_I	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	926	-			200					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.599G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944737	0.73672	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41758	0.99;0.99;0.99	5.74	5.74	0.90152	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.046376	0.85682	D	0.000000	T	0.54759	0.1878	L	0.42529	1.33	0.80722	D	1	P;D;B;P	0.55605	0.537;0.972;0.365;0.771	B;P;B;P	0.60609	0.236;0.877;0.131;0.549	T	0.36237	-0.9756	10	0.22706	T	0.39	-14.3084	19.9219	0.97089	0.0:1.0:0.0:0.0	.	200;200;200;200	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	A	200	ENSP00000272313:G200A;ENSP00000385912:G200A;ENSP00000339769:G200A	ENSP00000272313:G200A	G	-	2	0	SMEK2	55679378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.697000	0.92050	0.655000	0.94253	GGA		0.373	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		23	53	23	53	---	---	---	---	G	55825874	C	G	55825874	3	3	326	1	0	0	0	0	1	0	0	0	14794	855	30	4	2006	4	SMEK2	2	55825874	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		55825874	187373499	6	11695										
MAP2	4133	broad.mit.edu	37	chr2	210559664	210559664	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	tgaaactggcagcagccggaAgagtcaaagatgagttcagt	13	7	2	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:210559664A>G	ENST00000360351.4	+	7	3276	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	924					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)	AGCAGCCGGAAGAGTCAAAGA	0.453																																					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.(2770-2772)Aga>Gga		microtubule-associated protein 2	Estramustine(DB01196)						70	75	73					2																	210559664		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.chr2:210559664A>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.2770A>G	2.37:g.210559664A>G	ENSP00000353508:p.Arg924Gly		Somatic				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.R924G	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	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	3276	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	924					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2770A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430939	0.62844	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26660	1.72;1.72	5.9	4.7	0.59300	MAP2/Tau projection (1);	0.086607	0.49916	D	0.000130	T	0.43077	0.1231	L	0.54323	1.7	0.36991	D	0.89479	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.52245	-0.8601	10	0.87932	D	0	-23.3209	13.2917	0.60274	0.8683:0.1317:0.0:0.0	.	920;924	P11137-3;P11137	.;MAP2_HUMAN	G	924;920	ENSP00000353508:R924G;ENSP00000392164:R920G	ENSP00000353508:R924G	R	+	1	2	MAP2	210267909	1.000000	0.71417	0.958000	0.39756	0.872000	0.50106	4.028000	0.57246	2.266000	0.75297	0.528000	0.53228	AGA		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	43	8	43	---	---	---	---	G	210559664	A	G	210559664	3	3	326	1	0	0	0	0	1	0	0	0	9235	64	3	2	2784	2	MAP2	2	210559664	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	154733790	210559664	32639709	7	11696										
SAG	6295	broad.mit.edu	37	chr2	234237211	234237211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gctgaggcggcctggcagttCttcatgtctgacaagcccct	12	13	3	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:234237211C>G	ENST00000409110.1	+	8	830	c.600C>G	c.(598-600)ttC>ttG	p.F200L	SAG_ENST00000449594.2_Missense_Mutation_p.F66L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	200					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)		CCTGGCAGTTCTTCATGTCTG	0.602																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(598-600)ttC>ttG		S-antigen; retina and pineal gland (arrestin)							100	99	100					2																	234237211		1996	4174	6170	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237211C>G		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.600C>G	2.37:g.234237211C>G	ENSP00000386444:p.Phe200Leu		Somatic				SAG_ENST00000449594.2_Missense_Mutation_p.F66L	p.F200L	NM_000541.4	NP_000532.2	WXS	Illumina GAIIx	Phase_I	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	830	+		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)	200					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.600C>G	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013602	0.75161	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.08546	3.08;3.08	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.83312	2.635	0.58432	D	0.999999	P;P	0.50369	0.815;0.934	B;B	0.37508	0.157;0.252	T	0.04579	-1.0941	10	0.87932	D	0	-8.9773	11.6988	0.51558	0.0:0.9134:0.0:0.0866	.	66;200	B7Z7L5;P10523	.;ARRS_HUMAN	L	200;200;66	ENSP00000386444:F200L;ENSP00000392889:F66L	ENSP00000252857:F200L	F	+	3	2	SAG	233901950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.318000	0.43779	2.342000	0.79632	0.655000	0.94253	TTC		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		13	40	13	40	---	---	---	---	G	234237211	C	G	234237211	3	3	326	1	0	0	0	0	1	0	0	0	13808	912	32	4	626	4	SAG	2	234237211	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	23677547	234237211	8962162	8	11697										
RTP1	132112	broad.mit.edu	37	chr3	186917361	186917361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	tccactgctcctggtgctggCacacctggcagtcgccctac	10	17	0	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:186917361C>T	ENST00000312295.4	+	2	325	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	99					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)		CTGGTGCTGGCACACCTGGCA	0.647																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(295-297)Cac>Tac		receptor (chemosensory) transporter protein 1							75	65	69					3																	186917361		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917361C>T	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.295C>T	3.37:g.186917361C>T	ENSP00000311712:p.His99Tyr		Somatic				RP11-208N14.4_ENST00000356133.3_RNA	p.H99Y	NM_153708.2	NP_714919.2	WXS	Illumina GAIIx	Phase_I	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	325	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		99						Missense_Mutation	SNP	ENST00000312295.4	37	c.295C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836433	0.71373	.	.	ENSG00000175077	ENST00000312295	T	0.22945	1.93	5.7	4.83	0.62350	.	0.093484	0.64402	D	0.000001	T	0.25754	0.0627	N	0.22421	0.69	0.26790	N	0.969413	P	0.45126	0.851	P	0.50192	0.634	T	0.06607	-1.0817	10	0.66056	D	0.02	.	10.6512	0.45649	0.0:0.9121:0.0:0.0879	.	99	P59025	RTP1_HUMAN	Y	99	ENSP00000311712:H99Y	ENSP00000311712:H99Y	H	+	1	0	RTP1	188400055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	1.430000	0.47334	0.561000	0.74099	CAC		0.647	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		34	57	34	57	---	---	---	---	T	186917361	C	T	186917361	3	4	326	1	0	0	0	0	1	0	0	0	13733	710	25	2	301	2	RTP1	3	186917361	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		186917361	11105069	9	11698										
FGA	2243	broad.mit.edu	37	chr4	155507284	155507284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	atctcctttagaagtgaccaGtttttctgtgtggtactctc	8	9	3	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:155507284G>T	ENST00000302053.3	-	5	1375	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	FGA_ENST00000403106.3_Missense_Mutation_p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	433					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)	GAAGTGACCAGTTTTTCTGTG	0.498																																					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.(1297-1299)Ctg>Atg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						180	189	186					4																	155507284		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.chr4:155507284G>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.1297C>A	4.37:g.155507284G>T	ENSP00000306361:p.Leu433Met		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.L433M	p.L433M	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	1375	-	all_hematologic(180;0.215)	Renal(120;0.0458)	433					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1297C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884242	0.51908	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.60040	0.22;2.64	5.89	-1.32	0.09201	.	4.073680	0.00780	N	0.001269	T	0.73442	0.3587	M	0.78916	2.43	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.915	T	0.55780	-0.8087	10	0.72032	D	0.01	.	5.367	0.16119	0.4415:0.2612:0.2973:0.0	.	433;433	P02671-2;P02671	.;FIBA_HUMAN	M	433	ENSP00000306361:L433M;ENSP00000385981:L433M	ENSP00000306361:L433M	L	-	1	2	FGA	155726734	0.022000	0.18835	0.099000	0.21106	0.875000	0.50365	-0.075000	0.11431	-0.083000	0.12618	0.655000	0.94253	CTG		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	65	34	65	---	---	---	---	T	155507284	G	T	155507284	3	4	326	1	0	0	0	0	1	0	0	0	5830	1020	36	3	1355	3	FGA	4	155507284	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		155507284	35646992	10	11699										
SNX25	83891	broad.mit.edu	37	chr4	186241903	186241903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	atagattcttcagtttgaagAtatcttggccaatacgttct	7	7	4	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:186241903A>G	ENST00000504273.1	+	8	1163	c.869A>G	c.(868-870)gAt>gGt	p.D290G	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G			Q9H3E2	SNX25_HUMAN	sorting nexin 25	290	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)		CAGTTTGAAGATATCTTGGCC	0.328																																						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.(868-870)gAt>gGt		sorting nexin 25							92	93	93					4																	186241903		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186241903A>G	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.869A>G	4.37:g.186241903A>G	ENSP00000426255:p.Asp290Gly		Somatic				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G	p.D290G			WXS	Illumina GAIIx	Phase_I	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)	8	1163	+		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)	290			RGS.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.869A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068596	0.76301	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.01998	4.51;4.51	5.26	5.26	0.73747	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.172152	0.50627	D	0.000116	T	0.05318	0.0141	L	0.46157	1.445	0.58432	D	0.999993	P;P	0.45283	0.855;0.645	P;P	0.49502	0.613;0.455	T	0.54669	-0.8259	10	0.31617	T	0.26	-17.1308	15.4661	0.75403	1.0:0.0:0.0:0.0	.	61;290	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	G	290	ENSP00000426255:D290G;ENSP00000264694:D290G	ENSP00000264694:D290G	D	+	2	0	SNX25	186478897	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.829000	0.92055	2.123000	0.65237	0.459000	0.35465	GAT		0.328	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		20	35	20	35	---	---	---	---	G	186241903	A	G	186241903	3	3	326	1	0	0	0	0	1	0	0	0	14896	333	12	2	895	2	SNX25	4	186241903	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	30734619	186241903	4912373	11	11700										
LSM11	134353	broad.mit.edu	37	chr5	157181082	157181082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	atatgaacgggattcttcacTgactctcactagggtaggca	10	9	3	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:157181082T>G	ENST00000286307.5	+	3	715	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	220					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCTTCACTGACTCTCACT	0.473																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(658-660)cTg>cGg		LSM11, U7 small nuclear RNA associated							131	109	117					5																	157181082		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181082T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.659T>G	5.37:g.157181082T>G	ENSP00000286307:p.Leu220Arg		Somatic					p.L220R	NM_173491.2	NP_775762.1	WXS	Illumina GAIIx	Phase_I	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	715	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	220					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.659T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711253	0.89112	.	.	ENSG00000155858	ENST00000286307	T	0.46451	0.87	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.41236	1.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59252	-0.7489	10	0.72032	D	0.01	-9.4491	16.8222	0.85835	0.0:0.0:0.0:1.0	.	220	P83369	LSM11_HUMAN	R	220	ENSP00000286307:L220R	ENSP00000286307:L220R	L	+	2	0	LSM11	157113660	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.272000	0.78516	2.371000	0.80710	0.533000	0.62120	CTG		0.473	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		30	21	30	21	---	---	---	---	G	157181082	T	G	157181082	3	3	326	1	0	0	0	0	1	0	0	0	9052	1580	55	5	669	5	LSM11	5	157181082	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08		157181082	23734178	12	11701										
ZNF76	7629	broad.mit.edu	37	chr6	35259145	35259145	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cagcaaggccttcaagacctCaggagacctgcagaagcatg	11	12	2	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr6:35259145C>T	ENST00000373953.3	+	8	982	c.716C>T	c.(715-717)tCa>tTa	p.S239L	ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	239					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						TTCAAGACCTCAGGAGACCTG	0.552																																					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.(715-717)tCa>tTa		zinc finger protein 76							90	71	77					6																	35259145		2203	4300	6503	SO:0001583	missense	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.chr6:35259145C>T	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.716C>T	6.37:g.35259145C>T	ENSP00000363064:p.Ser239Leu		Somatic				ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	p.S239L	NM_003427.3	NP_003418.2	WXS	Illumina GAIIx	Phase_I	P36508	ZNF76_HUMAN			8	982	+			239					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.716C>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504092	0.96371	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.20738	3.02;2.05;2.05;2.44	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002325	T	0.34542	0.0901	L	0.46567	1.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.02789	-1.1110	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	239;239;239	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	L	239;239;239;239;213;239	ENSP00000419106:S239L;ENSP00000363064:S239L;ENSP00000392243:S213L;ENSP00000344097:S239L	ENSP00000344097:S239L	S	+	2	0	ZNF76	35367123	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	TCA		0.552	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		12	7	12	7	---	---	---	---	T	35259145	C	T	35259145	3	4	326	1	0	0	0	0	1	0	0	0	18132	838	29	2	742	2	ZNF76	6	35259145	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		35259145	135855922	13	11702										
PKD1L1	168507	broad.mit.edu	37	chr7	47920335	47920335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	atgtaacatacccacagacaCttgcaggacgtacgtctctc	7	13	1	1	rs539595370		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:47920335C>A	ENST00000289672.2	-	21	3561	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1171	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						CCCACAGACACTTGCAGGACG	0.473																																						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.(3511-3513)Gtg>Ttg		polycystic kidney disease 1 like 1							208	160	177					7																	47920335		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920335C>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.3511G>T	7.37:g.47920335C>A	ENSP00000289672:p.Val1171Leu		Somatic					p.V1171L	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			21	3561	-			1171			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3511G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608944	0.28623	.	.	ENSG00000158683	ENST00000289672	T	0.62639	0.01	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.457958	0.17983	N	0.155463	T	0.42630	0.1211	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.12400	-1.0549	10	0.14252	T	0.57	-16.902	12.9662	0.58485	0.0:1.0:0.0:0.0	.	1171	Q8TDX9	PK1L1_HUMAN	L	1171	ENSP00000289672:V1171L	ENSP00000289672:V1171L	V	-	1	0	PKD1L1	47886860	0.989000	0.36119	0.037000	0.18230	0.707000	0.40811	3.302000	0.51849	2.207000	0.71202	0.650000	0.86243	GTG		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	55	6	55	---	---	---	---	A	47920335	C	A	47920335	3	1	326	1	0	0	0	0	1	0	0	0	11964	565	20	3	5186	3	PKD1L1	7	47920335	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		47920335	111218328	14	11703										
ABCA13	154664	broad.mit.edu	37	chr7	48280530	48280530	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	caggcatgggccatagtctgGaggctctcaggaatcagttt	13	9	3	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:48280530G>T	ENST00000435803.1	+	10	1153	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	377					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						CCATAGTCTGGAGGCTCTCAG	0.493																																						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.(1129-1131)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 13							100	100	100					7																	48280530		1998	4175	6173	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280530G>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.1129G>T	7.37:g.48280530G>T	ENSP00000411096:p.Glu377*		Somatic					p.E377*	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			10	1153	+			377					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1129G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399949	0.83120	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.6	2.69	0.31865	.	0.608356	0.14527	N	0.314061	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.5519	0.27802	0.087:0.3193:0.5937:0.0	.	.	.	.	X	377	.	ENSP00000411096:E377X	E	+	1	0	ABCA13	48251076	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.047000	0.14056	0.262000	0.21774	0.655000	0.94253	GAG		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		23	38	23	38	---	---	---	---	T	48280530	G	T	48280530	4	4	326	1	0	0	0	0	0	1	0	0	31	1175	41	3	996	3	ABCA13	7	48280530	Nonsense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	360195	48280530	110858133	15	11704										
PPP1R3A	5506	broad.mit.edu	37	chr7	113558913	113558913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gtatatgtcttcagaagaatCagaacctcgtctacttggtt	8	8	4	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:113558913C>G	ENST00000284601.3	-	1	207	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		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						TCAGAAGAATCAGAACCTCGT	0.368																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.D47Y(1)	kidney(1)	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.(139-141)Gat>Cat		protein phosphatase 1, regulatory subunit 3A							83	81	82					7																	113558913		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558913C>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.139G>C	7.37:g.113558913C>G	ENSP00000284601:p.Asp47His		Somatic					p.D47H	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			1	207	-			47					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.139G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185341	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.27313	0.0670	L	0.50333	1.59	0.26332	N	0.977503	D	0.59357	0.985	P	0.49502	0.613	T	0.07139	-1.0788	10	0.49607	T	0.09	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	H	47	ENSP00000284601:D47H	ENSP00000284601:D47H	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		17	129	17	129	---	---	---	---	G	113558913	C	G	113558913	3	3	326	1	0	0	0	0	1	0	0	0	12371	826	29	4	3245	4	PPP1R3A	7	113558913	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	65278383	113558913	45579750	16	11705										
CADPS2	93664	broad.mit.edu	37	chr7	122111518	122111518	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ccattttctgaatgttccatCagttctgcaaggtagcagag	9	9	3	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:122111518C>G	ENST00000449022.2	-	14	2116	c.2097G>C	c.(2095-2097)ctG>ctC	p.L699L	CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000334010.7_Silent_p.L700L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	699					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						AATGTTCCATCAGTTCTGCAA	0.478																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2098-2100)ctG>ctC		Ca++-dependent secretion activator 2							104	107	106					7																	122111518		1976	4181	6157	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111518C>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.2097G>C	7.37:g.122111518C>G			Somatic				CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L	p.L700L	NM_001167940.1	NP_001161412.1	WXS	Illumina GAIIx	Phase_I	Q86UW7	CAPS2_HUMAN			13	2521	-			699					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2100G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996121	0.19043	.	.	ENSG00000081803	ENST00000397721	.	.	.	6.17	2.14	0.27477	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	-11.3774	8.6719	0.34156	0.0:0.6385:0.2342:0.1273	.	.	.	.	H	345	.	.	D	-	1	0	CADPS2	121898754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	0.463000	0.27118	0.655000	0.94253	GAT		0.478	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	15	11	15	---	---	---	---	G	122111518	C	G	122111518	2	3	326	1	0	0	0	0	0	0	0	1	2571	813	29	4		4	CADPS2	7	122111518	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	8552605	122111518	37027145	17	11706										
MLL3	58508	broad.mit.edu	37	chr7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	aggcaccagcctgagtctcaTagacctccgtggaccacaga	10	14	1	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	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		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C			WXS	Illumina GAIIx	Phase_I					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			45	68	45	68	---	---	---	---	C	151845693	T	C	151845693	3	2	326	1	0	0	0	0	1	0	0	0	9622	1406	49	2	1448	2	MLL3	7	151845693	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	29734175	151845693	7292970	18	11707										
STAU2	27067	broad.mit.edu	37	chr8	74529544	74529544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cacctgaggagatctttctgGaataggttcattctgcagtg	11	8	4	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:74529544G>A	ENST00000524300.1	-	7	903	c.553C>T	c.(553-555)Cca>Tca	p.P185S	STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000355780.5_Missense_Mutation_p.P153S	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	185					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)			GATCTTTCTGGAATAGGTTCA	0.398																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(457-459)Cca>Tca		staufen double-stranded RNA binding protein 2							147	133	138					8																	74529544		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529544G>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	ENST00000524300.1:c.553C>T	8.37:g.74529544G>A	ENSP00000428756:p.Pro185Ser		Somatic				STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S	p.P153S	NM_014393.2	NP_055208.2	WXS	Illumina GAIIx	Phase_I	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	675	-	Breast(64;0.0138)		185			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000524300.1	37	c.457C>T	CCDS55247.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793405	0.70452	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;0.97;0.05;-0.09;-0.09;-0.09;-0.09;-0.09;0.81;-0.09	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;B	0.89917	1.0;0.999;1.0;1.0;0.997;1.0;0.402	D;D;D;D;P;D;B	0.87578	0.996;0.974;0.996;0.998;0.829;0.996;0.109	T	0.78685	-0.2108	10	0.54805	T	0.06	-23.6113	18.8698	0.92308	0.0:0.0:1.0:0.0	.	165;81;13;153;185;153;185	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	S	153;185;13;81;153;185;165;153;147;13;153	ENSP00000428456:P153S;ENSP00000428756:P185S;ENSP00000428741:P13S;ENSP00000429173:P81S;ENSP00000348026:P153S;ENSP00000430907:P185S;ENSP00000429973:P165S;ENSP00000427977:P153S;ENSP00000431111:P147S;ENSP00000429005:P13S;ENSP00000428829:P153S	ENSP00000344030:P13S	P	-	1	0	STAU2	74692098	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.188000	0.94921	2.520000	0.84964	0.555000	0.69702	CCA		0.398	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380		10	30	10	30	---	---	---	---	A	74529544	G	A	74529544	3	1	326	1	0	0	0	0	1	0	0	0	15272	1174	41	2	1319	2	STAU2	8	74529544	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		74529544	71834478	19	11708										
DNA2	1763	broad.mit.edu	37	chr10	70196776	70196776	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	acatttcattacctgtctaaTaaacaagttactgttgtcat	4	8	3	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:70196776T>C	ENST00000358410.3	-	10	1688	c.1638A>G	c.(1636-1638)ttA>ttG	p.L546L	DNA2_ENST00000399180.2_Silent_p.L632L|DNA2_ENST00000399179.2_Silent_p.L546L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	546	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						ACCTGTCTAATAAACAAGTTA	0.333																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1894-1896)ttA>ttG		DNA replication helicase/nuclease 2							127	122	124					10																	70196776		1852	4098	5950	SO:0001819	synonymous_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.chr10:70196776T>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.1638A>G	10.37:g.70196776T>C			Somatic				DNA2_ENST00000399179.2_Silent_p.L546L|DNA2_ENST00000358410.3_Silent_p.L546L	p.L632L			WXS	Illumina GAIIx	Phase_I	P51530	DNA2L_HUMAN			10	1895	-			546					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.1896A>G																																																																																					0.333	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			46	59	46	59	---	---	---	---	C	70196776	T	C	70196776	2	2	326	1	0	0	0	0	0	0	0	1	4596	1403	49	2		2	DNA2	10	70196776	Silent	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08		70196776	65337971	20	11709										
CYP2C19	1557	broad.mit.edu	37	chr10	96540343	96540343	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ccagaaacgtttcgattataAagatcagcaatttcttaact	5	8	2	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:96540343A>C	ENST00000371321.3	+	4	651	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	190					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)	TTCGATTATAAAGATCAGCAA	0.418																																						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.(568-570)aAa>aCa		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	136	137					10																	96540343		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.chr10:96540343A>C	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.569A>C	10.37:g.96540343A>C	ENSP00000360372:p.Lys190Thr		Somatic				CYP2C19_ENST00000464755.1_3'UTR	p.K190T	NM_000769.1	NP_000760	WXS	Illumina GAIIx	Phase_I	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	4	651	+		Colorectal(252;0.09)	190					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.569A>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298210	0.23650	.	.	ENSG00000165841	ENST00000371321	T	0.69306	-0.39	4.13	-7.91	0.01165	.	0.684486	0.13282	U	0.399676	T	0.44871	0.1314	L	0.28344	0.845	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.18053	-1.0349	10	0.30078	T	0.28	.	11.3878	0.49796	0.2088:0.705:0.0863:0.0	.	190	P33261	CP2CJ_HUMAN	T	190	ENSP00000360372:K190T	ENSP00000360372:K190T	K	+	2	0	CYP2C19	96530333	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	0.793000	0.26944	-1.392000	0.02082	0.411000	0.27672	AAA		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		101	88	101	88	---	---	---	---	C	96540343	A	C	96540343	3	2	326	1	0	0	0	0	1	0	0	0	4166	14	1	5	583	5	CYP2C19	10	96540343	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	26343567	96540343	38994404	21	11710										
SOX6	55553	broad.mit.edu	37	chr11	16117662	16117662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	tgtgggtgggagacatgaccCttctgtttagtagcatattc	12	7	1	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:16117662C>T	ENST00000352083.6	-	9	1058	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	327					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						AGACATGACCCTTCTGTTTAG	0.398																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(979-981)aaG>aaA		SRY (sex determining region Y)-box 6							131	126	128					11																	16117662		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16117662C>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.981G>A	11.37:g.16117662C>T			Somatic				SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K	p.K327K			WXS	Illumina GAIIx	Phase_I	P35712	SOX6_HUMAN			9	1058	-			327					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.981G>A																																																																																					0.398	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		26	41	26	41	---	---	---	---	T	16117662	C	T	16117662	2	4	326	1	0	0	0	0	0	0	0	1	14955	680	24	2		2	SOX6	11	16117662	Silent	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		16117662	118888854	22	11711										
DBX1	120237	broad.mit.edu	37	chr11	20178066	20178066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cccccgctagacaggagttcGcgctccttggagttccgcca	11	16	0	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:20178066G>A	ENST00000524983.2	-	4	1014	c.726C>T	c.(724-726)cgC>cgT	p.R242R	DBX1_ENST00000227256.3_Silent_p.R281R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	242					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ACAGGAGTTCGCGCTCCTTGG	0.622																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(724-726)cgC>cgT		developing brain homeobox 1							31	34	33					11																	20178066		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178066G>A			11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.726C>T	11.37:g.20178066G>A			Somatic				DBX1_ENST00000227256.3_Silent_p.R281R	p.R242R			WXS	Illumina GAIIx	Phase_I	A6NMT0	DBX1_HUMAN			4	1014	-			242						Silent	SNP	ENST00000524983.2	37	c.726C>T																																																																																					0.622	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		13	33	13	33	---	---	---	---	A	20178066	G	A	20178066	2	1	326	1	0	0	0	0	0	0	0	1	4259	1074	38	2		2	DBX1	11	20178066	Silent	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	4060404	20178066	114828450	23	11712										
FAT3	120114	broad.mit.edu	37	chr11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ggatttcaaactagctctgcGtcttcgaacactgcaaagca	8	11	3	0	rs372126226		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	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)				CTAGCTCTGCGTCTTCGAACA	0.393										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.(11590-11592)cGt>cAt		FAT atypical cadherin 3		G	HIS/ARG	0,3700		0,0,1850	88	84	85		11591	5.2	1	11		85	2,8190		0,2,4094	no	missense	FAT3	NM_001008781.2	29	0,2,5944	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	3864/4558	92592421	2,11890	1850	4096	5946	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92592421G>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.11591G>A	11.37:g.92592421G>A	ENSP00000298047:p.Arg3864His	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H	p.R3864H			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			20	11608	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3864			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11591G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091737	0.94149	0.0	2.44E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.82692	0.5092	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.91635	0.999;0.348	D	0.83779	0.0224	9	0.54805	T	0.06	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	3864;3864	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3864;3864;3714;199	ENSP00000298047:R3864H;ENSP00000387040:R3864H;ENSP00000432586:R3714H;ENSP00000436399:R199H	ENSP00000298047:R3864H	R	+	2	0	FAT3	92232069	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.338000	0.96553	2.580000	0.87095	0.655000	0.94253	CGT		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	15	16	15	---	---	---	---	A	92592421	G	A	92592421	3	1	326	1	0	0	0	0	1	0	0	0	5691	1145	40	2	11669	2	FAT3	11	92592421	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	72414355	92592421	42414095	24	11713										
HSPA8	3312	broad.mit.edu	37	chr11	122930210	122930210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	aagcaacagcttcatcagggTtgatgctcttattcagttct	8	9	5	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:122930210T>C	ENST00000532636.1	-	5	1210	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	364	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)		TTCATCAGGGTTGATGCTCTT	0.438																																					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.(1090-1092)aAc>aGc		heat shock 70kDa protein 8							123	116	118					11																	122930210		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.chr11:122930210T>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.1091A>G	11.37:g.122930210T>C	ENSP00000437125:p.Asn364Ser		Somatic				HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S	p.N364S	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1367	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	364			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1091A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548640	0.86127	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01397	4.94;4.94;4.94;4.94;4.94;4.94;4.94;4.94	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	H	0.99273	4.495	0.80722	D	1	D;D;P;D	0.57257	0.979;0.961;0.952;0.979	P;P;P;P	0.60236	0.735;0.871;0.796;0.735	T	0.35001	-0.9806	10	0.87932	D	0	-29.5464	14.6962	0.69124	0.0:0.0:0.0:1.0	.	364;364;364;364	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	S	364;218;364;364;364;128;345;304	ENSP00000437125:N364S;ENSP00000437189:N218S;ENSP00000432083:N364S;ENSP00000404372:N364S;ENSP00000227378:N364S;ENSP00000433316:N128S;ENSP00000433584:N345S;ENSP00000432884:N304S	ENSP00000227378:N364S	N	-	2	0	HSPA8	122435420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	1.932000	0.55993	0.454000	0.30748	AAC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	112	13	112	---	---	---	---	C	122930210	T	C	122930210	3	2	326	1	0	0	0	0	1	0	0	0	7416	1725	60	2	869	2	HSPA8	11	122930210	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	30337789	122930210	12076306	25	11714										
DDX23	9416	broad.mit.edu	37	chr12	49225958	49225958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	agccttgctccaagattgccAgcagctttttcctggaagga	10	11	0	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:49225958A>G	ENST00000308025.3	-	15	2046	c.1967T>C	c.(1966-1968)cTg>cCg	p.L656P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	656	Helicase C-terminal. {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)|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						CAAGATTGCCAGCAGCTTTTT	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.(1966-1968)cTg>cCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							77	78	78					12																	49225958		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.chr12:49225958A>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.1967T>C	12.37:g.49225958A>G	ENSP00000310723:p.Leu656Pro		Somatic					p.L656P	NM_004818.2	NP_004809.2	WXS	Illumina GAIIx	Phase_I	Q9BUQ8	DDX23_HUMAN			15	2046	-			656			Helicase C-terminal.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1967T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703720	0.88924	.	.	ENSG00000174243	ENST00000308025	T	0.05996	3.36	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19087	0.0458	M	0.71920	2.185	0.80722	D	1	D	0.59357	0.985	P	0.55667	0.781	T	0.00364	-1.1787	10	0.36615	T	0.2	-11.8179	15.8048	0.78491	1.0:0.0:0.0:0.0	.	656	Q9BUQ8	DDX23_HUMAN	P	656	ENSP00000310723:L656P	ENSP00000310723:L656P	L	-	2	0	DDX23	47512225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.371000	0.80710	0.533000	0.62120	CTG		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		24	52	24	52	---	---	---	---	G	49225958	A	G	49225958	3	3	326	1	0	0	0	0	1	0	0	0	4350	188	7	2	507	2	DDX23	12	49225958	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08		49225958	84625937	26	11715										
C15orf2	23742	broad.mit.edu	37	chr15	24924310	24924310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cccacctacccagaattcatGcagtggtatgggaggggatg	13	10	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:24924310G>T	ENST00000329468.2	+	1	3770	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1099					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAATTCATGCAGTGGTATG	0.507																																						ENST00000329468.2																			0											c.(3295-3297)tGc>tTc		nuclear pore associated protein 1							140	125	130					15																	24924310		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924310G>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.3296G>T	15.37:g.24924310G>T	ENSP00000333735:p.Cys1099Phe		Somatic					p.C1099F	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	3770	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3296G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.550	-0.091926	0.07053	.	.	ENSG00000185823	ENST00000329468	T	0.05855	3.38	1.68	-0.351	0.12602	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.42430	-0.9452	9	0.59425	D	0.04	.	3.948	0.09356	0.4404:0.0:0.5596:0.0	.	1099	Q9NZP6	CO002_HUMAN	F	1099	ENSP00000333735:C1099F	ENSP00000333735:C1099F	C	+	2	0	C15orf2	22475403	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.041000	0.13927	-0.099000	0.12263	0.313000	0.20887	TGC		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		69	101	69	101	---	---	---	---	T	24924310	G	T	24924310	3	4	326	1	0	0	0	0	1	0	0	0	1784	1319	46	3	3298	3	C15orf2	15	24924310	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		24924310	77607082	27	11716										
GRIN2A	2903	broad.mit.edu	37	chr16	10031896	10031896	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gcctcggggatgtaggagaaCttctccagcatagaagatgc	13	9	1	3			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:10031896C>G	ENST00000396573.2	-	4	1236	c.927G>C	c.(925-927)aaG>aaC	p.K309N	GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					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)	TGTAGGAGAACTTCTCCAGCA	0.572																																						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.(925-927)aaG>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79	65	69					16																	10031896		2197	4300	6497	SO:0001583	missense	2903				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.chr16:10031896C>G		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.927G>C	16.37:g.10031896C>G	ENSP00000379818:p.Lys309Asn		Somatic				GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N	p.K309N	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			4	1236	-			309					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.927G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658787	0.47467	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.2	0.767	0.18482	.	0.317437	0.37577	N	0.002032	T	0.09024	0.0223	L	0.51422	1.61	0.34732	D	0.729857	B;B;B	0.30146	0.082;0.27;0.005	B;B;B	0.38755	0.085;0.281;0.013	T	0.22695	-1.0209	9	.	.	.	.	5.679	0.17765	0.0:0.5177:0.2633:0.2189	.	152;309;309	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	309;309;152;309;309	ENSP00000379818:K309N;ENSP00000385872:K309N;ENSP00000441572:K152N;ENSP00000332549:K309N;ENSP00000379820:K309N	.	K	-	3	2	GRIN2A	9939397	0.650000	0.27331	0.249000	0.24280	0.954000	0.61252	-0.110000	0.10824	-0.006000	0.14370	0.561000	0.74099	AAG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	37	6	37	---	---	---	---	G	10031896	C	G	10031896	3	3	326	1	0	0	0	0	1	0	0	0	6779	564	20	4	3511	4	GRIN2A	16	10031896	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08		10031896	80322857	28	11717										
GPR139	124274	broad.mit.edu	37	chr16	20043950	20043950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gtaggaggacttctgtcttcTtgccaccagctgggagagga	14	9	3	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:20043950T>C	ENST00000570682.1	-	2	469	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57					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)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGTCTTCTTGCCACCAGC	0.458																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(169-171)Aga>Gga		G protein-coupled receptor 139							61	62	61					16																	20043950		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043950T>C	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.169A>G	16.37:g.20043950T>C	ENSP00000458791:p.Arg57Gly		Somatic					p.R57G	NM_001002911.2	NP_001002911.1	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			2	469	-			57					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.169A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080338	0.55753	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.3	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.64170	1.965	0.46458	D	0.999051	D	0.89917	1.0	D	0.97110	1.0	T	0.77191	-0.2678	9	0.56958	D	0.05	-21.6187	18.5887	0.91200	0.0:0.0:0.7885:0.2115	.	57	Q6DWJ6	GP139_HUMAN	G	57	.	ENSP00000370779:R57G	R	-	1	2	GPR139	19951451	1.000000	0.71417	0.188000	0.23233	0.928000	0.56348	3.278000	0.51662	-0.210000	0.10140	0.460000	0.39030	AGA		0.458	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		13	21	13	21	---	---	---	---	C	20043950	T	C	20043950	3	2	326	1	0	0	0	0	1	0	0	0	6648	1617	56	2	896	2	GPR139	16	20043950	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	10012054	20043950	70310803	29	11718										
ZFHX3	463	broad.mit.edu	37	chr16	72828630	72828630	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gtagagaatttctagttgttCcggtgtgatggttgttctca	12	5	2	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:72828630C>A	ENST00000268489.5	-	9	8623	c.7951G>T	c.(7951-7953)Gaa>Taa	p.E2651*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2651					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.E2651Q(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)				TCTAGTTGTTCCGGTGTGATG	0.498																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.E2651Q(1)	lung(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.(7951-7953)Gaa>Taa		zinc finger homeobox 3							260	278	272					16																	72828630		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.chr16:72828630C>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.7951G>T	16.37:g.72828630C>A	ENSP00000268489:p.Glu2651*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	p.E2651*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	8623	-		Ovarian(137;0.13)	2651					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.7951G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	51	17.806742	0.99893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	.	.	.	X	2651;1737	.	ENSP00000268489:E2651X	E	-	1	0	ZFHX3	71386131	1.000000	0.71417	0.934000	0.37439	0.724000	0.41520	7.818000	0.86416	2.653000	0.90120	0.561000	0.74099	GAA		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	318	10	318	---	---	---	---	A	72828630	C	A	72828630	4	1	326	1	0	0	0	0	0	1	0	0	17631	864	30	3	3168	3	ZFHX3	16	72828630	Nonsense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	52784680	72828630	17526123	30	11719										
OR3A1	4994	broad.mit.edu	37	chr17	3195619	3195619	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cgcttgcgggacaggagacgActcaacattgatggaacagt	13	9	1	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:3195619A>G	ENST00000323404.1	-	1	257	c.258T>C	c.(256-258)agT>agC	p.S86S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	86					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						ACAGGAGACGACTCAACATTG	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.(256-258)agT>agC		olfactory receptor, family 3, subfamily A, member 1							99	78	85					17																	3195619		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195619A>G	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.258T>C	17.37:g.3195619A>G			Somatic				RP11-64J4.2_ENST00000573491.1_RNA	p.S86S	NM_002550.2	NP_002541.2	WXS	Illumina GAIIx	Phase_I	P47881	OR3A1_HUMAN			1	257	-			86					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.258T>C	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			15	8	15	8	---	---	---	---	G	3195619	A	G	3195619	2	3	326	1	0	0	0	0	0	0	0	1	11037	272	10	2		2	OR3A1	17	3195619	Silent	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08		3195619	77999591	31	11720										
MYBBP1A	10514	broad.mit.edu	37	chr17	4457112	4457112	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ggggagctcatacctcggagAggatgtccaccagggccttc	14	12	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:4457112A>T	ENST00000254718.4	-	5	860	c.554T>A	c.(553-555)cTc>cAc	p.L185H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	185	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TACCTCGGAGAGGATGTCCAC	0.592																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(553-555)cTc>cAc		MYB binding protein (P160) 1a							46	48	47					17																	4457112		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4457112A>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.554T>A	17.37:g.4457112A>T	ENSP00000254718:p.Leu185His		Somatic				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H	p.L185H			WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			5	860	-			185			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.554T>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679928	0.68042	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.66099	-0.19;-0.19	5.78	5.78	0.91487	Armadillo-type fold (1);	0.066937	0.64402	D	0.000006	T	0.76681	0.4021	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.78502	-0.2179	10	0.66056	D	0.02	-23.9368	15.2208	0.73310	1.0:0.0:0.0:0.0	.	185;185	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	185	ENSP00000370968:L185H;ENSP00000254718:L185H	ENSP00000254718:L185H	L	-	2	0	MYBBP1A	4403861	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.314000	0.72848	2.333000	0.79357	0.533000	0.62120	CTC		0.592	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	8	28	8	---	---	---	---	T	4457112	A	T	4457112	3	4	326	1	0	0	0	0	1	0	0	0	10008	304	11	5	3560	5	MYBBP1A	17	4457112	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	1261493	4457112	76738098	32	11721										
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0	rs587782664		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	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"		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(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	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130	102	112					17																	7577570		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.chr17:7577570C>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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	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)	Somatic				TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	9	27	9	---	---	---	---	T	7577570	C	T	7577570	3	4	326	1	0	0	0	0	1	0	0	0	16378	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	3120458	7577570	73617640	33	11722										
BRIP1	83990	broad.mit.edu	37	chr17	59760933	59760933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	atgcaatctgaattgttagcCaatctatttcctctatcagt	5	9	4	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:59760933C>A	ENST00000259008.2	-	20	3741	c.3474G>T	c.(3472-3474)ttG>ttT	p.L1158F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1158					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						AATTGTTAGCCAATCTATTTC	0.333			"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.(3472-3474)ttG>ttT	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							75	74	75					17																	59760933		2203	4299	6502	SO:0001583	missense	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.chr17:59760933C>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.3474G>T	17.37:g.59760933C>A	ENSP00000259008:p.Leu1158Phe		Somatic					p.L1158F	NM_032043.2	NP_114432.2	WXS	Illumina GAIIx	Phase_I	Q9BX63	FANCJ_HUMAN			20	3741	-			1158					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3474G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336166	0.05278	.	.	ENSG00000136492	ENST00000259008	T	0.75589	-0.95	5.39	-0.498	0.12019	.	2.966490	0.00678	N	0.000669	T	0.57946	0.2088	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31475	-0.9942	9	.	.	.	-0.2137	2.3486	0.04278	0.1195:0.485:0.1575:0.238	.	1158	Q9BX63	FANCJ_HUMAN	F	1158	ENSP00000259008:L1158F	.	L	-	3	2	BRIP1	57115715	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.410000	0.21098	0.028000	0.15324	-0.251000	0.11542	TTG		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		17	47	17	47	---	---	---	---	A	59760933	C	A	59760933	3	1	326	1	0	0	0	0	1	0	0	0	1514	593	21	1	279	1	BRIP1	17	59760933	Missense_Mutation	SNP	C	TCGA-YL-A9WH-01A-11D-A377-08	52183363	59760933	21434277	34	11723										
JAK3	3718	broad.mit.edu	37	chr19	17950368	17950369	+	Missense_Mutation	DNP	GA	GA	TT													0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ccatcccagcaggttgccagGagctctcgaagactgctgtg							TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950368_17950369GA>TT	ENST00000527670.1	-	9	1387_1388	c.1358_1359TC>AA	c.(1357-1359)cTC>cAA	p.L453Q	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.L453Q|JAK3_ENST00000534444.1_Missense_Mutation_p.L453Q			P52333	JAK3_HUMAN	Janus kinase 3	453	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)			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)	AGGTTGCCAGGAGCTCTCGAAG	0.629		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.(1357-1359)ctC>ctA|c.(1357-1359)cTc>cAc		Janus kinase 3																																				SO:0001583	missense	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.chr19:17950368G>T|g.chr19:17950369A>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.1358_1359delinsTT	19.37:g.17950368_17950369delinsTT	ENSP00000432511:p.Leu453Gln		Somatic				JAK3_ENST00000527670.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000527670.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H	p.L453L|p.L453H	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			10	1458|1457	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent|Missense_Mutation	SNP	ENST00000527670.1	37	c.1359C>A|c.1358T>A	CCDS12366.1																																																																																				0.629	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	5	6	---	---	---	---	TT	17950369	GA	TT	17950368	3	4	326	1	0	0	0	0	1	0	0	0	7939	1161	41	3	2075	3	JAK3	19	17950368	Missense_Mutation	DNP	GA	TCGA-YL-A9WH-01A-11D-A377-08		17950368	41178615	35	11724										
ZNF160	90338	broad.mit.edu	37	chr19	53573131	53573131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	tagaaggaatttgttgaagtGgtgacactgaggaaccattg	13	4	0	4			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:53573131G>A	ENST00000429604.1	-	7	1071	c.656C>T	c.(655-657)cCa>cTa	p.P219L	ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L|ZNF160_ENST00000601421.1_Missense_Mutation_p.P183L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	219					hemopoiesis (GO:0030097)|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)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGTTGAAGTGGTGACACTGA	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(547-549)cCa>cTa		zinc finger protein 160							173	165	168					19																	53573131		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573131G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"Zinc fingers, C2H2-type", "-"	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.656C>T	19.37:g.53573131G>A	ENSP00000406201:p.Pro219Leu		Somatic				ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L	p.P183L			WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1424	-			219					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.548C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634944	0.29068	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07114	3.22;3.22	2.03	-0.187	0.13268	.	.	.	.	.	T	0.04092	0.0114	N	0.17631	0.505	0.09310	N	1	B	0.31581	0.329	B	0.22152	0.038	T	0.43475	-0.9389	9	0.26408	T	0.33	.	4.8323	0.13447	0.5078:0.0:0.4922:0.0	.	219	Q9HCG1	ZN160_HUMAN	L	219	ENSP00000406201:P219L;ENSP00000409597:P219L	ENSP00000409597:P219L	P	-	2	0	ZNF160	58264943	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.622000	0.24433	0.009000	0.14813	-0.291000	0.09656	CCA		0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		24	110	24	110	---	---	---	---	A	53573131	G	A	53573131	3	1	326	1	0	0	0	0	1	0	0	0	17736	1348	47	2	1804	2	ZNF160	19	53573131	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08	35622763	53573131	5555852	36	11725										
ZNRF3	84133	broad.mit.edu	37	chr22	29438481	29438481	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gctgtttttttaactctggcAggccaagcgagcagtacagc	11	10	1	0			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr22:29438481A>G	ENST00000544604.2	+	3	601		c.e3-1		ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3						canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TAACTCTGGCAGGCCAAGCGA	0.493																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.e3-1		zinc and ring finger 3							75	74	74					22																	29438481		1907	4127	6034	SO:0001630	splice_region_variant	84133					integral to membrane	zinc ion binding	g.chr22:29438481A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"RING-type (C3HC4) zinc fingers"	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.427-1A>G	22.37:g.29438481A>G			Somatic				ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site		NM_001206998.1	NP_001193927.1	WXS	Illumina GAIIx	Phase_I	Q9ULT6	ZNRF3_HUMAN			3	601	+								B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	SNP	ENST00000544604.2	37		CCDS56225.1	.	.	.	.	.	.	.	.	.	.	.	19.88	3.909111	0.72868	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.559	0.76223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNRF3	27768481	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.397000	0.90193	2.323000	0.78572	0.529000	0.55759	.		0.493	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Intron	17	15	17	15	---	---	---	---	G	29438481	A	G	29438481	5	3	326	1	0	0	0	0	0	0	1	0	18210	202	7	2	131	2	ZNRF3	22	29438481	Splice_Site	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08		29438481	21866085	37	11726										
MXRA5	25878	broad.mit.edu	37	chrX	3227766	3227766	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	gaatccacatttcagaagacGtggatgtaagttgttttgga	11	5	1	2			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:3227766G>C	ENST00000217939.6	-	7	8632	c.8478C>G	c.(8476-8478)caC>caG	p.H2826Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2826	Ig-like C2-type 12.					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)				TTCAGAAGACGTGGATGTAAG	0.458																																						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.(8476-8478)caC>caG		matrix-remodelling associated 5							65	59	61					X																	3227766		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3227766G>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.8478C>G	X.37:g.3227766G>C	ENSP00000217939:p.His2826Gln		Somatic					p.H2826Q	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			7	8632	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2826			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8478C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	5.794	0.330811	0.10956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.85	-3.32	0.04973	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42172	U	0.000759	T	0.39172	0.1068	N	0.01761	-0.735	0.24585	N	0.993858	P	0.50066	0.931	P	0.53809	0.735	T	0.53767	-0.8392	10	0.15499	T	0.54	.	12.31	0.54924	0.3449:0.0:0.6551:0.0	.	2826	Q9NR99	MXRA5_HUMAN	Q	2826	ENSP00000217939:H2826Q	ENSP00000217939:H2826Q	H	-	3	2	MXRA5	3237766	0.989000	0.36119	0.078000	0.20375	0.025000	0.11179	0.122000	0.15687	-0.753000	0.04721	-1.329000	0.01275	CAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	2	14	2	---	---	---	---	C	3227766	G	C	3227766	3	2	326	1	0	0	0	0	1	0	0	0	10003	1136	40	4	12	4	MXRA5	23	3227766	Missense_Mutation	SNP	G	TCGA-YL-A9WH-01A-11D-A377-08		3227766	152042794	38	11727										
WDR13	64743	broad.mit.edu	37	chrX	48458010	48458010	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	ggtgcccacgtcagcagcagAggcaagtcgggccatggccg	16	13	1	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:48458010A>T	ENST00000218056.5	+	4	933	c.428A>T	c.(427-429)gAg>gTg	p.E143V	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	143						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAGCAGCAGAGGCAAGTCGG	0.602																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(427-429)gAg>gTg		WD repeat domain 13							87	74	78					X																	48458010		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458010A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.428A>T	X.37:g.48458010A>T	ENSP00000218056:p.Glu143Val		Somatic				WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V	p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	WXS	Illumina GAIIx	Phase_I	Q9H1Z4	WDR13_HUMAN			4	933	+			143					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.428A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589955	0.86851	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73047	-0.71;-0.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59221	0.806;0.854	T	0.78329	-0.2246	10	0.42905	T	0.14	-16.9547	12.3712	0.55256	1.0:0.0:0.0:0.0	.	21;143	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	V	143	ENSP00000365919:E143V;ENSP00000218056:E143V	ENSP00000218056:E143V	E	+	2	0	WDR13	48342954	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	8.148000	0.89630	1.826000	0.53198	0.430000	0.28490	GAG		0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			34	12	34	12	---	---	---	---	T	48458010	A	T	48458010	3	4	326	1	0	0	0	0	1	0	0	0	17272	304	11	5	442	5	WDR13	23	48458010	Missense_Mutation	SNP	A	TCGA-YL-A9WH-01A-11D-A377-08	45230244	48458010	106812550	39	11728										
AMOT	154796	broad.mit.edu	37	chrX	112022741	112022741	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	4	1	1.32315521628499	2.55179934569248	0.541290770298404	0.485714285714286	1	0	aactggagcaggaacagagaTgggagcaacagctgcagttt	14	7	0	1			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:112022741T>C	ENST00000524145.1	-	11	2715	c.2641A>G	c.(2641-2643)Atc>Gtc	p.I881V	AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000371959.3_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	881					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						ggaacagagatgggagcaaca	0.597																																						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.(2641-2643)Atc>Gtc		angiomotin							109	65	80					X																	112022741		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:112022741T>C	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.2641A>G	X.37:g.112022741T>C	ENSP00000429013:p.Ile881Val		Somatic				AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V	p.I881V	NM_001113490.1	NP_001106962.1	WXS	Illumina GAIIx	Phase_I	Q4VCS5	AMOT_HUMAN			10	2640	-			881					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2641A>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365712	0.24684	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.37915	1.17;2.3;2.55;2.3	5.2	1.43	0.22495	.	0.234355	0.32134	N	0.006537	T	0.21962	0.0529	L	0.44542	1.39	0.20821	N	0.999844	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.28530	T	0.3	-0.72	0.9463	0.01366	0.1577:0.2934:0.16:0.3889	.	881	Q4VCS5	AMOT_HUMAN	V	472;881;649;881;121	ENSP00000305557:I472V;ENSP00000361027:I881V;ENSP00000361030:I649V;ENSP00000429013:I881V	ENSP00000305557:I472V	I	-	1	0	AMOT	111909397	0.893000	0.30496	0.950000	0.38849	0.700000	0.40528	0.247000	0.18179	0.232000	0.21100	0.430000	0.28490	ATC		0.597	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		14	4	14	4	---	---	---	---	C	112022741	T	C	112022741	3	2	326	1	0	0	0	0	1	0	0	0	582	1464	51	2	621	2	AMOT	23	112022741	Missense_Mutation	SNP	T	TCGA-YL-A9WH-01A-11D-A377-08	63564731	112022741	43247819	40	11729										
RPRD2	23248	broad.mit.edu	37	chr1	150445317	150445317	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tccaccccctcctccaccccCtgttgaccactctggagttg	6	20	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:150445317C>G	ENST00000369068.4	+	11	3897	c.3893C>G	c.(3892-3894)cCt>cGt	p.P1298R	RPRD2_ENST00000401000.4_Missense_Mutation_p.P1272R|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1298	Pro-rich.					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						CCTCCACCCCCTGTTGACCAC	0.607																																						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.(3814-3816)cCt>cGt		regulation of nuclear pre-mRNA domain containing 2							39	42	41					1																	150445317		1931	4127	6058	SO:0001583	missense	23248						protein binding	g.chr1:150445317C>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.3893C>G	1.37:g.150445317C>G	ENSP00000358064:p.Pro1298Arg		Somatic				RPRD2_ENST00000369068.4_Missense_Mutation_p.P1298R|RPRD2_ENST00000492220.1_3'UTR	p.P1272R			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			10	3880	+			1298			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3815C>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664996	0.47572	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.51325	0.72;0.71	4.45	4.45	0.53987	.	0.067994	0.64402	D	0.000015	T	0.28732	0.0712	N	0.19112	0.55	0.80722	D	1	B;P	0.36837	0.435;0.571	B;B	0.41332	0.193;0.354	T	0.38866	-0.9641	10	0.87932	D	0	-4.7077	17.329	0.87258	0.0:1.0:0.0:0.0	.	1298;1272	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	R	1272;1298	ENSP00000383785:P1272R;ENSP00000358064:P1298R	ENSP00000358064:P1298R	P	+	2	0	RPRD2	148711941	0.856000	0.29760	0.975000	0.42487	0.758000	0.43043	3.835000	0.55805	2.300000	0.77407	0.555000	0.69702	CCT		0.607	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		3	9	3	9	---	---	---	---	G	150445317	C	G	150445317	3	3	327	1	0	0	0	0	1	0	0	0	13617	681	24	4	3935	4	RPRD2	1	150445317	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		150445317	98805304	1	11730										
SPTA1	6708	broad.mit.edu	37	chr1	158646058	158646058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	aggatgggaaagtgtcagctTctctgctttagcacataact	10	8	2	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158646058T>C	ENST00000368147.4	-	8	1165	c.985A>G	c.(985-987)Aag>Gag	p.K329E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	329					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)					AGTGTCAGCTTCTCTGCTTTA	0.498																																						ENST00000368147.4																			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.(985-987)Aag>Gag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							205	193	197					1																	158646058		1924	4138	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.chr1:158646058T>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.985A>G	1.37:g.158646058T>C	ENSP00000357129:p.Lys329Glu		Somatic					p.K329E	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			8	1165	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.985A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588872	0.66105	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52983	0.64;0.64	5.24	5.24	0.73138	.	0.242396	0.21391	N	0.075308	T	0.28466	0.0704	L	0.52573	1.65	0.37214	D	0.904921	P	0.38048	0.616	B	0.41135	0.348	T	0.10847	-1.0612	10	0.23302	T	0.38	.	9.7896	0.40697	0.0:0.0:0.2764:0.7236	.	329	P02549	SPTA1_HUMAN	E	329	ENSP00000357130:K329E;ENSP00000357129:K329E	ENSP00000357129:K329E	K	-	1	0	SPTA1	156912682	1.000000	0.71417	0.986000	0.45419	0.783000	0.44284	5.725000	0.68507	2.186000	0.69663	0.533000	0.62120	AAG		0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		72	99	72	99	---	---	---	---	C	158646058	T	C	158646058	3	2	327	1	0	0	0	0	1	0	0	0	15115	1792	62	2	6454	2	SPTA1	1	158646058	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	8200741	158646058	90604563	2	11731										
OR6K3	391114	broad.mit.edu	37	chr1	158687669	158687670	+	Missense_Mutation	DNP	GG	GG	AT													0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	atgaggttggagagcatcttGggaatggtggctgtggtgta							TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr1:158687669_158687670GG>AT	ENST00000368146.1	-	1	283_284	c.284_285CC>AT	c.(283-285)cCC>cAT	p.P95H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						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)					AGAGCATCTTGGGAATGGTGGC	0.45																																						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.(283-285)ccC>ccT|c.(283-285)cCc>cAc		olfactory receptor, family 6, subfamily K, member 3																																				SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687669G>A|g.chr1:158687670G>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.284_285delinsAT	1.37:g.158687669_158687670delinsAT	ENSP00000357128:p.Pro95His		Somatic				OR6K3_ENST00000368145.1_Silent_p.P79P|OR6K3_ENST00000368145.1_Missense_Mutation_p.P79H	p.P95P|p.P95H			WXS	Illumina GAIIx	Phase_I	Q8NGY3	OR6K3_HUMAN			1	284|283	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Silent|Missense_Mutation	SNP	ENST00000368146.1	37	c.285C>T|c.284C>A																																																																																					0.45	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				40	74|77	40	74	---	---	---	---	AT	158687670	GG	AT	158687669	3	1	327	1	0	0	0	0	1	0	0	0	11203	1335	47	2	712	2	OR6K3	1	158687669	Missense_Mutation	DNP	GG	TCGA-YL-A9WI-01A-11D-A377-08	41611	158687669	90562952	3	11732										
APOB	338	broad.mit.edu	37	chr2	21233084	21233084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ttgtttttactaaatttacaCggatatgatagtgctcatca	6	6	2	1	rs200106845		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:21233084C>T	ENST00000233242.1	-	26	6783	c.6656G>A	c.(6655-6657)cGt>cAt	p.R2219H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2219					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)					TAAATTTACACGGATATGATA	0.259													C|||	1	0.000199681	0	0	5008	,	,		19021	0		0	False		,,,				2504	0.001					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.(6655-6657)cGt>cAt		apolipoprotein B	Atorvastatin(DB01076)	C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	33	35	34		6656	1.3	0.8	2		34	0,8582		0,0,4291	no	missense	APOB	NM_000384.2	29	0,2,6490	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	2219/4564	21233084	2,12982	2201	4291	6492	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.chr2:21233084C>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.6656G>A	2.37:g.21233084C>T	ENSP00000233242:p.Arg2219His		Somatic					p.R2219H	NM_000384.2	NP_000375	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	6783	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2219					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6656G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439026	0.25900	4.54E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00882	5.58	5.54	1.34	0.21922	.	1.037320	0.07625	N	0.927594	T	0.00967	0.0032	N	0.19112	0.55	0.09310	N	0.999993	B	0.22541	0.071	B	0.12156	0.007	T	0.49916	-0.8888	10	0.40728	T	0.16	.	11.1755	0.48596	0.0:0.7642:0.0:0.2358	.	2219	P04114	APOB_HUMAN	H	2219	ENSP00000233242:R2219H	ENSP00000233242:R2219H	R	-	2	0	APOB	21086589	0.078000	0.21339	0.750000	0.31169	0.615000	0.37417	0.193000	0.17116	0.006000	0.14734	0.561000	0.74099	CGT		0.259	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	41	18	41	---	---	---	---	T	21233084	C	T	21233084	3	4	327	1	0	0	0	0	1	0	0	0	785	536	19	2	7051	2	APOB	2	21233084	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		21233084	221966289	4	11733										
NCOA1	8648	broad.mit.edu	37	chr2	24929887	24929887	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cctaatatttcgacattaagCtctcccgttggcatgacaag	7	11	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:24929887C>G	ENST00000406961.1	+	13	2200	c.1548C>G	c.(1546-1548)agC>agG	p.S516R	NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000405141.1_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	516	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACATTAAGCTCTCCCGTTG	0.418			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1546-1548)agC>agG		nuclear receptor coactivator 1							92	96	95					2																	24929887		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929887C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1548C>G	2.37:g.24929887C>G	ENSP00000385216:p.Ser516Arg		Somatic				NCOA1_ENST00000538539.1_Missense_Mutation_p.S516R|NCOA1_ENST00000288599.5_Missense_Mutation_p.S516R|NCOA1_ENST00000348332.3_Missense_Mutation_p.S516R|NCOA1_ENST00000406961.1_Missense_Mutation_p.S516R|NCOA1_ENST00000395856.3_Missense_Mutation_p.S516R|NCOA1_ENST00000407230.1_Missense_Mutation_p.S365R	p.S516R			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			14	2259	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		516			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1548C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221636	0.22457	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02032	4.61;4.61;4.49;4.61;4.61;4.61;4.61	5.23	1.95	0.26073	.	0.429828	0.28006	N	0.016964	T	0.02455	0.0075	L	0.36672	1.1	0.25094	N	0.990835	P;P;P;B	0.37276	0.589;0.454;0.589;0.421	B;B;B;B	0.36608	0.229;0.115;0.229;0.08	T	0.41179	-0.9523	10	0.72032	D	0.01	.	10.2157	0.43166	0.0:0.7214:0.0:0.2786	.	516;516;516;365	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	R	516;516;365;516;516;516;516	ENSP00000385216:S516R;ENSP00000385097:S516R;ENSP00000385195:S365R;ENSP00000444039:S516R;ENSP00000320940:S516R;ENSP00000288599:S516R;ENSP00000379197:S516R	ENSP00000288599:S516R	S	+	3	2	NCOA1	24783391	1.000000	0.71417	0.990000	0.47175	0.796000	0.44982	1.329000	0.33770	0.715000	0.32103	-0.136000	0.14681	AGC		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		27	45	27	45	---	---	---	---	G	24929887	C	G	24929887	3	3	327	1	0	0	0	0	1	0	0	0	10228	796	28	4	1582	4	NCOA1	2	24929887	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	3696803	24929887	218269486	5	11734										
C2orf61	285051	broad.mit.edu	37	chr2	47378575	47378575	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tccttccttcgtttttaaaaTtgtaggttgctatcactgga	7	8	1	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:47378575T>G	ENST00000445927.2	-	3	347	c.221A>C	c.(220-222)aAt>aCt	p.N74T	C2orf61_ENST00000294947.2_Missense_Mutation_p.N74T|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	74								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTTTTAAAATTGTAGGTTGC	0.398																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(220-222)aAt>aCt		chromosome 2 open reading frame 61							165	158	160					2																	47378575		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47378575T>G	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.221A>C	2.37:g.47378575T>G	ENSP00000408527:p.Asn74Thr		Somatic				RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Missense_Mutation_p.N74T	p.N74T	NM_173649.2	NP_775920.1	WXS	Illumina GAIIx	Phase_I	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	256	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	74					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.221A>C	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574134	0.45902	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.33438	1.41;1.41	5.12	0.161	0.14977	.	0.224693	0.31323	N	0.007843	T	0.30854	0.0778	M	0.61703	1.905	0.26256	N	0.978646	P	0.36909	0.573	B	0.40901	0.343	T	0.19745	-1.0296	10	0.56958	D	0.05	-6.3207	8.8281	0.35067	0.0:0.3672:0.0:0.6328	.	74	Q8N801	CB061_HUMAN	T	74	ENSP00000408527:N74T;ENSP00000294947:N74T	ENSP00000294947:N74T	N	-	2	0	C2orf61	47232079	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.617000	0.24359	0.014000	0.14944	0.383000	0.25322	AAT		0.398	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		46	59	46	59	---	---	---	---	G	47378575	T	G	47378575	3	3	327	1	0	0	0	0	1	0	0	0	2180	1493	52	5	560	5	C2orf61	2	47378575	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	22448688	47378575	195820798	6	11735										
IL18RAP	8807	broad.mit.edu	37	chr2	103063627	103063627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cactggattgaaatagtgctGctgtaccggacctaccagag	11	10	0	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:103063627G>A	ENST00000264260.2	+	10	1759	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	IL18RAP_ENST00000409369.1_Silent_p.L248L	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	390					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						AAATAGTGCTGCTGTACCGGA	0.577																																						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.(1168-1170)ctG>ctA		interleukin 18 receptor accessory protein							150	152	152					2																	103063627		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.chr2:103063627G>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.1170G>A	2.37:g.103063627G>A			Somatic				IL18RAP_ENST00000409369.1_Silent_p.L248L	p.L390L	NM_003853.2	NP_003844.1	WXS	Illumina GAIIx	Phase_I	O95256	I18RA_HUMAN			10	1759	+			390					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1170G>A	CCDS2061.1																																																																																				0.577	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		65	73	65	73	---	---	---	---	A	103063627	G	A	103063627	2	1	327	1	0	0	0	0	0	0	0	1	7648	1306	46	2		2	IL18RAP	2	103063627	Silent	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	55685052	103063627	140135746	7	11736										
XIRP2	129446	broad.mit.edu	37	chr2	168107563	168107563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tcatcatgtctcctgcaacaCttcgtcgtcaaattaagata	5	11	4	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:168107563C>G	ENST00000409195.1	+	9	9750	c.9661C>G	c.(9661-9663)Ctt>Gtt	p.L3221V	XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3046					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						TCCTGCAACACTTCGTCGTCA	0.453																																						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.(9661-9663)Ctt>Gtt		xin actin-binding repeat containing 2							69	68	68					2																	168107563		1924	4134	6058	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107563C>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.9661C>G	2.37:g.168107563C>G	ENSP00000386840:p.Leu3221Val		Somatic				XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2999V|XIRP2_ENST00000295237.9_Missense_Mutation_p.L3221V	p.L3221V	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	9750	+			3046					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.9661C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118128	0.56505	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02863	4.14;4.14;4.13	5.45	5.45	0.79879	.	0.325116	0.30437	N	0.009634	T	0.13457	0.0326	L	0.58669	1.825	0.40016	D	0.97535	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.83275	0.991;0.996;0.942	T	0.00330	-1.1812	10	0.48119	T	0.1	-14.3517	18.4306	0.90624	0.0:1.0:0.0:0.0	.	3046;3046;2999	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	3221;3221;2999;635	ENSP00000386840:L3221V;ENSP00000295237:L3221V;ENSP00000387255:L2999V	ENSP00000295237:L3221V	L	+	1	0	XIRP2	167815809	0.995000	0.38212	0.978000	0.43139	0.993000	0.82548	3.074000	0.50065	2.729000	0.93468	0.460000	0.39030	CTT		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		26	30	26	30	---	---	---	---	G	168107563	C	G	168107563	3	3	327	1	0	0	0	0	1	0	0	0	17427	565	20	4	9691	4	XIRP2	2	168107563	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	65043936	168107563	75091810	8	11737										
TTC30A	92104	broad.mit.edu	37	chr2	178482390	178482390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ggaacttatacgtcaaatggGcattttctgccaggacatct	9	9	3	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:178482390G>A	ENST00000355689.5	-	1	1304	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	347					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)			CGTCAAATGGGCATTTTCTGC	0.448																																						ENST00000355689.5																			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.(1039-1041)gCc>gTc		tetratricopeptide repeat domain 30A							116	123	121					2																	178482390		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482390G>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.1040C>T	2.37:g.178482390G>A	ENSP00000347915:p.Ala347Val		Somatic				AC073834.3_ENST00000357045.4_RNA	p.A347V	NM_152275.3	NP_689488.3	WXS	Illumina GAIIx	Phase_I	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1304	-								A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1040C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072863	0.76415	.	.	ENSG00000197557	ENST00000355689	T	0.36340	1.26	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.70275	2.135	0.80722	D	1	P	0.51653	0.947	P	0.46110	0.504	T	0.47142	-0.9140	10	0.48119	T	0.1	.	20.3829	0.98937	0.0:0.0:1.0:0.0	.	347	Q86WT1	TT30A_HUMAN	V	347	ENSP00000347915:A347V	ENSP00000347915:A347V	A	-	2	0	TTC30A	178190636	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.722000	0.84778	2.823000	0.97156	0.644000	0.83932	GCC		0.448	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		36	50	36	50	---	---	---	---	A	178482390	G	A	178482390	3	1	327	1	0	0	0	0	1	0	0	0	16695	1203	42	2	961	2	TTC30A	2	178482390	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	10374827	178482390	64716983	9	11738										
WDR75	84128	broad.mit.edu	37	chr2	190315668	190315668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	atggcacaattaaactgtggGactatatagatggcatctta	9	6	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr2:190315668G>T	ENST00000314761.4	+	3	316	c.256G>T	c.(256-258)Gac>Tac	p.D86Y		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAACTGTGGGACTATATAGA	0.284																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(256-258)Gac>Tac		WD repeat domain 75							199	204	202					2																	190315668		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190315668G>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.256G>T	2.37:g.190315668G>T	ENSP00000314193:p.Asp86Tyr		Somatic					p.D86Y	NM_032168.1	NP_115544.1	WXS	Illumina GAIIx	Phase_I	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		3	316	+			86					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.256G>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633741	0.87660	.	.	ENSG00000115368	ENST00000314761	T	0.11930	2.73	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	T	0.52058	0.1711	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66356	-0.5944	10	0.87932	D	0	-22.0563	17.5147	0.87770	0.0:0.0:1.0:0.0	.	86;86	A8K330;Q8IWA0	.;WDR75_HUMAN	Y	86	ENSP00000314193:D86Y	ENSP00000314193:D86Y	D	+	1	0	WDR75	190023913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.379000	0.90146	2.661000	0.90470	0.655000	0.94253	GAC		0.284	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		20	57	20	57	---	---	---	---	T	190315668	G	T	190315668	3	4	327	1	0	0	0	0	1	0	0	0	17322	1174	41	3	266	3	WDR75	2	190315668	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	11833278	190315668	52883705	10	11739										
DCLK3	85443	broad.mit.edu	37	chr3	36779816	36779816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cgtgcctctcttccagagtgGcttccctggggggcttgcta	13	13	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:36779816G>A	ENST00000416516.2	-	2	825	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			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						TTCCAGAGTGGCTTCCCTGGG	0.557																																						ENST00000416516.2																			0				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.(334-336)gCc>gTc		doublecortin-like kinase 3							123	125	125					3																	36779816		1877	4096	5973	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779816G>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.335C>T	3.37:g.36779816G>A	ENSP00000394484:p.Ala112Val		Somatic					p.A112V	NM_033403.1	NP_208382.1	WXS	Illumina GAIIx	Phase_I	Q9C098	DCLK3_HUMAN			2	825	-			112						Missense_Mutation	SNP	ENST00000416516.2	37	c.335C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703191	0.30232	.	.	ENSG00000163673	ENST00000416516	T	0.70516	-0.49	4.7	4.7	0.59300	.	0.000000	0.32671	N	0.005786	T	0.57475	0.2056	L	0.36672	1.1	0.09310	N	1	B	0.34103	0.437	B	0.30029	0.11	T	0.58934	-0.7548	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.1535:0.688:0.1585	.	112	Q9C098	DCLK3_HUMAN	V	112	ENSP00000394484:A112V	ENSP00000394484:A112V	A	-	2	0	DCLK3	36754820	0.015000	0.18098	0.033000	0.17914	0.408000	0.30992	1.685000	0.37659	2.339000	0.79563	0.655000	0.94253	GCC		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		24	136	24	136	---	---	---	---	A	36779816	G	A	36779816	3	1	327	1	0	0	0	0	1	0	0	0	4293	1203	42	2	1627	2	DCLK3	3	36779816	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		36779816	161242614	11	11740										
PTPN23	25930	broad.mit.edu	37	chr3	47437635	47437635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gttcttctctctctgtagttTgtcctgaagaattatggaga	9	7	3	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr3:47437635T>C	ENST00000265562.4	+	2	164	c.87T>C	c.(85-87)ttT>ttC	p.F29F	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	29	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				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)		CTCTGTAGTTTGTCCTGAAGA	0.478																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(85-87)ttT>ttC		protein tyrosine phosphatase, non-receptor type 23							127	126	127					3																	47437635		2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47437635T>C	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.87T>C	3.37:g.47437635T>C			Somatic				PTPN23_ENST00000431726.1_5'UTR	p.F29F	NM_015466.2	NP_056281.1	WXS	Illumina GAIIx	Phase_I	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	164	+			29			BRO1.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.87T>C	CCDS2754.1																																																																																				0.478	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	83	10	83	---	---	---	---	C	47437635	T	C	47437635	2	2	327	1	0	0	0	0	0	0	0	1	12788	1809	63	2		2	PTPN23	3	47437635	Silent	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	10657819	47437635	150584795	12	11741										
APC	324	broad.mit.edu	37	chr5	112175225	112175231	+	Frame_Shift_Del	DEL	GGAACTA	GGAACTA	-													0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cagaaataaaagaaaagattGgaactaggtcagctgaagat					rs587779791		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr5:112175225_112175231delGGAACTA	ENST00000457016.1	+	16	4314_4320	c.3934_3940delGGAACTA	c.(3934-3942)ggaactaggfs	p.GTR1312fs	APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs			P25054	APC_HUMAN	adenomatous polyposis coli	1312	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		G -> E (in gastric cancer).		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.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(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)		AGAAAAGATTGGAACTAGGTCAGCTGA	0.43		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"		36	Substitution - Nonsense(25)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)|Insertion - Frameshift(1)	p.G1312*(25)|p.G1312fs*9(2)|p.G1312E(1)|p.T1313fs*8(1)|p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.G1312R(1)|p.G1312fs*4(1)|p.T1313fs*2(1)|p.G1312fs*1(1)	large_intestine(32)|stomach(1)|lung(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.(3934-3942)ggaactaggfs		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.chr5:112175225_112175231delGGAACTA	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.3934_3940delGGAACTA	5.37:g.112175225_112175231delGGAACTA	ENSP00000413133:p.Gly1312fs	TSP Lung(16;0.13)	Somatic				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.GTR1312fs|APC_ENST00000508376.2_Frame_Shift_Del_p.GTR1312fs	p.GTR1312fs			WXS	Illumina GAIIx	Phase_I	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	4314_4320	+		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)	1312		G -> E (in gastric cancer).	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	c.3934_3940delGGAACTA	CCDS4107.1																																																																																				0.43	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	9	14	9	---	---	---	---	-	112175231	GGAACTA	-	112175225	7	5	327	1	0	1	0	1	0	0	0	0	763	1349	47	0	3992	0	APC	5	112175225	Frame_Shift_Del	DEL	GGAACTA	TCGA-YL-A9WI-01A-11D-A377-08		112175225	68740035	13	11742										
GLP1R	2740	broad.mit.edu	37	chr6	39046951	39046951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ccaaactgaaggccaatctcAtgtgcaagacagacatcaaa	7	11	2	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:39046951A>C	ENST00000373256.4	+	10	1061	c.1018A>C	c.(1018-1020)Atg>Ctg	p.M340L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	340					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GGCCAATCTCATGTGCAAGAC	0.542																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1018-1020)Atg>Ctg		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						124	122	122					6																	39046951		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39046951A>C		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1018A>C	6.37:g.39046951A>C	ENSP00000362353:p.Met340Leu		Somatic					p.M340L	NM_002062.3	NP_002053.3	WXS	Illumina GAIIx	Phase_I	P43220	GLP1R_HUMAN			10	1061	+			340					Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.1018A>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300946	0.60195	.	.	ENSG00000112164	ENST00000373256	T	0.32515	1.45	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.063539	0.64402	D	0.000003	T	0.19366	0.0465	L	0.56280	1.765	0.41632	D	0.989027	B	0.17038	0.02	B	0.30716	0.119	T	0.06807	-1.0806	10	0.46703	T	0.11	.	11.577	0.50866	0.8508:0.1492:0.0:0.0	.	340	P43220	GLP1R_HUMAN	L	340	ENSP00000362353:M340L	ENSP00000362353:M340L	M	+	1	0	GLP1R	39154929	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.172000	0.77604	1.936000	0.56123	0.379000	0.24179	ATG		0.542	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			60	28	60	28	---	---	---	---	C	39046951	A	C	39046951	3	2	327	1	0	0	0	0	1	0	0	0	6452	217	8	5	1056	5	GLP1R	6	39046951	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		39046951	132068116	14	11743										
ZNF318	24149	broad.mit.edu	37	chr6	43325471	43325471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cccgagagcactgggagcttCgagtgaagacagaatcatca	12	10	2	4	rs549275559		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr6:43325471C>T	ENST00000361428.2	-	3	658	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	194					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)			CTGGGAGCTTCGAGTGAAGAC	0.473													C|||	1	0.000199681	0	0.0014	5008	,	,		19952	0		0	False		,,,				2504	0					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.(580-582)cGa>cAa		zinc finger protein 318							106	111	110					6																	43325471		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.chr6:43325471C>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.581G>A	6.37:g.43325471C>T	ENSP00000354964:p.Arg194Gln		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.R194Q	p.R194Q	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	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)		3	658	-			194					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.581G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209266	0.79240	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.04119	3.7;3.7	5.09	3.15	0.36227	.	0.569440	0.16218	N	0.224161	T	0.02156	0.0067	N	0.24115	0.695	0.26299	N	0.978003	D	0.56035	0.974	P	0.47891	0.56	T	0.45745	-0.9240	10	0.59425	D	0.04	-1.1407	10.2582	0.43410	0.0:0.8226:0.0:0.1774	.	194	Q5VUA4	ZN318_HUMAN	Q	194	ENSP00000323032:R194Q;ENSP00000354964:R194Q	ENSP00000323032:R194Q	R	-	2	0	ZNF318	43433449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.301000	0.51842	1.370000	0.46153	0.555000	0.69702	CGA		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		40	92	40	92	---	---	---	---	T	43325471	C	T	43325471	3	4	327	1	0	0	0	0	1	0	0	0	17833	884	31	2	6290	2	ZNF318	6	43325471	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	4278520	43325471	127789596	15	11744										
GLI3	2737	broad.mit.edu	37	chr7	42018254	42018254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	catatgcactaccaacatatActgggctttgaagggtttct	8	9	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr7:42018254A>G	ENST00000395925.3	-	11	1675	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	531					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)			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						ACCAACATATACTGGGCTTTG	0.502									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				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.(1591-1593)Tat>Cat		GLI family zinc finger 3							117	107	110					7																	42018254		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.chr7:42018254A>G		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.1591T>C	7.37:g.42018254A>G	ENSP00000379258:p.Tyr531His		Somatic				GLI3_ENST00000479210.1_5'UTR	p.Y531H	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			11	1675	-			531					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1591T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838329	0.91117	.	.	ENSG00000106571	ENST00000395925	D	0.91180	-2.8	5.84	5.84	0.93424	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	0.96725	0.8931	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97774	1.0228	10	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	531	P10071	GLI3_HUMAN	H	531	ENSP00000379258:Y531H	ENSP00000379258:Y531H	Y	-	1	0	GLI3	41984779	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.281000	0.95811	2.230000	0.72887	0.528000	0.53228	TAT		0.502	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	128	11	128	---	---	---	---	G	42018254	A	G	42018254	3	3	327	1	0	0	0	0	1	0	0	0	6439	391	14	2	3171	2	GLI3	7	42018254	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		42018254	117120409	16	11745										
TEX15	56154	broad.mit.edu	37	chr8	30699598	30699598	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	catttgtctacagtgctcggTcgttttttagaggaatttga	10	6	1	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr8:30699598T>C	ENST00000256246.2	-	1	7010	c.6936A>G	c.(6934-6936)cgA>cgG	p.R2312R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2312					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)		CAGTGCTCGGTCGTTTTTTAG	0.343																																						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.(6934-6936)cgA>cgG		testis expressed 15							110	105	107					8																	30699598		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30699598T>C	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.6936A>G	8.37:g.30699598T>C			Somatic					p.R2312R	NM_031271.3	NP_112561.2	WXS	Illumina GAIIx	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	7010	-			2312						Silent	SNP	ENST00000256246.2	37	c.6936A>G	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			28	105	28	105	---	---	---	---	C	30699598	T	C	30699598	2	2	327	1	0	0	0	0	0	0	0	1	15776	1654	58	2		2	TEX15	8	30699598	Silent	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08		30699598	115664424	17	11746										
RANBP6	26953	broad.mit.edu	37	chr9	6015581	6015581	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ttttctgacacggtcgccggCacccctgcagacgcggttgc	12	15	1	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:6015581C>A	ENST00000259569.5	-	1	37	c.27G>T	c.(25-27)gtG>gtT	p.V9V	RANBP6_ENST00000485372.1_5'UTR	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	9					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)		CGGTCGCCGGCACCCCTGCAG	0.577																																						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.(25-27)gtG>gtT		RAN binding protein 6							38	44	42					9																	6015581		2203	4299	6502	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015581C>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.27G>T	9.37:g.6015581C>A			Somatic				RANBP6_ENST00000485372.1_5'UTR	p.V9V	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	WXS	Illumina GAIIx	Phase_I	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	37	-		Acute lymphoblastic leukemia(23;0.158)	9					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.27G>T	CCDS6467.1																																																																																				0.577	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		19	34	19	34	---	---	---	---	A	6015581	C	A	6015581	2	1	327	1	0	0	0	0	0	0	0	1	13031	697	25	3		3	RANBP6	9	6015581	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		6015581	135197850	18	11747										
SMC5	23137	broad.mit.edu	37	chr9	72933829	72933830	+	Frame_Shift_Del	DEL	AA	AA	-													0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	aagaaggagcttcttgagagAaaaaccaagaaaagacaact							TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:72933829_72933830delAA	ENST00000361138.5	+	15	2158_2159	c.2100_2101delAA	c.(2098-2103)agaaaafs	p.K701fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	701					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)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCTTGAGAGAAAAACCAAGAA	0.401																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(2098-2103)agaaaafs		structural maintenance of chromosomes 5																																				SO:0001589	frameshift_variant	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72933829_72933830delAA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2100_2101delAA	9.37:g.72933831_72933832delAA	ENSP00000354957:p.Lys701fs		Somatic					p.K701fs	NM_015110.3	NP_055925.2	WXS	Illumina GAIIx	Phase_I	Q8IY18	SMC5_HUMAN			15	2158_2159	+			701					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Frame_Shift_Del	DEL	ENST00000361138.5	37	c.2100_2101delAA	CCDS6632.1																																																																																				0.401	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		26	35	26	35	---	---	---	---	-	72933830	AA	-	72933829	7	5	327	1	0	1	0	1	0	0	0	0	14786	243	9	0	2158	0	SMC5	9	72933829	Frame_Shift_Del	DEL	AA	TCGA-YL-A9WI-01A-11D-A377-08	66918248	72933829	68279602	19	11748										
ABCA1	19	broad.mit.edu	37	chr9	107564358	107564358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ggccagctttaggtgtttctTcatttgtttgatggcatcat	10	7	3	1	rs543919713		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr9:107564358T>C	ENST00000374736.3	-	34	5069	c.4675A>G	c.(4675-4677)Aag>Gag	p.K1559E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1559					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)	AGGTGTTTCTTCATTTGTTTG	0.423																																						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.(4675-4677)Aag>Gag		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163	149	154					9																	107564358		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.chr9:107564358T>C	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.4675A>G	9.37:g.107564358T>C	ENSP00000363868:p.Lys1559Glu		Somatic					p.K1559E	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	34	5069	-			1559					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.4675A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.862408	0.51482	.	.	ENSG00000165029	ENST00000374736	D	0.88509	-2.39	5.78	5.78	0.91487	.	0.044292	0.85682	D	0.000000	D	0.85159	0.5633	N	0.24115	0.695	0.80722	D	1	B	0.26120	0.142	B	0.36030	0.216	T	0.81920	-0.0712	10	0.37606	T	0.19	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	1559	O95477	ABCA1_HUMAN	E	1559	ENSP00000363868:K1559E	ENSP00000363868:K1559E	K	-	1	0	ABCA1	106604179	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.202000	0.42743	2.333000	0.79357	0.533000	0.62120	AAG		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	49	4	49	---	---	---	---	C	107564358	T	C	107564358	3	2	327	1	0	0	0	0	1	0	0	0	28	1792	62	2	2178	2	ABCA1	9	107564358	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	34630529	107564358	33649073	20	11749										
SBF2	81846	broad.mit.edu	37	chr11	9990086	9990086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gaatgccatatgaggatttgGattctcctgtaatatcagac	9	7	2	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr11:9990086G>T	ENST00000256190.8	-	14	1539	c.1402C>A	c.(1402-1404)Cca>Aca	p.P468T		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	468					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)		TGAGGATTTGGATTCTCCTGT	0.448																																						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.(1402-1404)Cca>Aca		SET binding factor 2							123	120	121					11																	9990086		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9990086G>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.1402C>A	11.37:g.9990086G>T	ENSP00000256190:p.Pro468Thr		Somatic					p.P468T	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	14	1539	-			468					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.1402C>A	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.977304|3.977304	0.74360|0.74360	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000256190|ENST00000420722	D|.	0.86297|.	-2.1|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.270908|.	0.36555|.	N|.	0.002539|.	T|T	0.76385|0.76385	0.3980|0.3980	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|T	0.77256|0.77256	-0.2655|-0.2655	10|5	0.27785|.	T|.	0.31|.	.|.	18.2211|18.2211	0.89902|0.89902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	468|.	Q86WG5|.	MTMRD_HUMAN|.	T|Y	468|74	ENSP00000256190:P468T|.	ENSP00000256190:P468T|.	P|S	-|-	1|2	0|0	SBF2|SBF2	9946662|9946662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.441000|9.441000	0.97557|0.97557	2.275000|2.275000	0.75901|0.75901	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.448	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		30	52	30	52	---	---	---	---	T	9990086	G	T	9990086	3	4	327	1	0	0	0	0	1	0	0	0	13859	1174	41	3	4255	3	SBF2	11	9990086	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		9990086	125016430	21	11750										
KCNA1	3736	broad.mit.edu	37	chr12	5020567	5020567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gacggtgatgtctggggagaAcgtggacgaggcttcggccg	19	8	1	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:5020567A>T	ENST00000382545.3	+	2	1130	c.23A>T	c.(22-24)aAc>aTc	p.N8I	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)	8					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)	TCTGGGGAGAACGTGGACGAG	0.731																																						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.(22-24)aAc>aTc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						15	18	17					12																	5020567		2176	4255	6431	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020567A>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.23A>T	12.37:g.5020567A>T	ENSP00000371985:p.Asn8Ile		Somatic				KCNA1_ENST00000543874.2_Intron	p.N8I	NM_000217.2	NP_000208.2	WXS	Illumina GAIIx	Phase_I	Q09470	KCNA1_HUMAN			2	1130	+			8					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.23A>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493049	0.26774	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96265	-3.96	3.46	3.46	0.39613	.	0.046947	0.85682	D	0.000000	D	0.93109	0.7806	L	0.44542	1.39	0.53005	D	0.999967	B	0.10296	0.003	B	0.11329	0.006	D	0.90774	0.4674	10	0.48119	T	0.1	.	11.5802	0.50887	1.0:0.0:0.0:0.0	.	8	Q09470	KCNA1_HUMAN	I	8	ENSP00000371985:N8I	ENSP00000228858:N8I	N	+	2	0	KCNA1	4890828	0.185000	0.23213	0.916000	0.36221	0.991000	0.79684	1.487000	0.35540	1.588000	0.49971	0.454000	0.30748	AAC		0.731	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		8	18	8	18	---	---	---	---	T	5020567	A	T	5020567	3	4	327	1	0	0	0	0	1	0	0	0	8001	43	2	5	25	5	KCNA1	12	5020567	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08		5020567	128831328	22	11751										
PIP4K2C	79837	broad.mit.edu	37	chr12	57994722	57994722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gaggtggatggggactgcagCctgactggacctcctgctct	15	11	1	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:57994722C>T	ENST00000354947.5	+	8	958	c.942C>T	c.(940-942)agC>agT	p.S314S	PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S|PIP4K2C_ENST00000540759.2_Silent_p.S314S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGACTGCAGCCTGACTGGAC	0.617																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(940-942)agC>agT		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							118	122	121					12																	57994722		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994722C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.942C>T	12.37:g.57994722C>T			Somatic				PIP4K2C_ENST00000540759.2_Silent_p.S314S|PIP4K2C_ENST00000422156.3_Silent_p.S266S|PIP4K2C_ENST00000550465.1_Silent_p.S296S	p.S314S			WXS	Illumina GAIIx	Phase_I	Q8TBX8	PI42C_HUMAN			8	958	+	Melanoma(17;0.122)		314			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.942C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377438	0.11466	.	.	ENSG00000166908	ENST00000548264	.	.	.	4.38	0.388	0.16264	.	.	.	.	.	T	0.43722	0.1260	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	-0.1693	3.041	0.06138	0.1883:0.4229:0.0:0.3888	.	.	.	.	V	122	.	.	A	+	2	0	PIP4K2C	56280989	0.000000	0.05858	0.979000	0.43373	0.816000	0.46133	-0.469000	0.06648	0.193000	0.20303	-0.439000	0.05793	GCC		0.617	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		29	52	29	52	---	---	---	---	T	57994722	C	T	57994722	2	4	327	1	0	0	0	0	0	0	0	1	11938	738	26	2		2	PIP4K2C	12	57994722	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	52974155	57994722	75857173	23	11752										
METAP2	10988	broad.mit.edu	37	chr12	95868032	95868032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tccagacgacagggaagaagGagctgcctctacggctgagg	15	10	1	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr12:95868032G>A	ENST00000323666.5	+	1	306	c.77G>A	c.(76-78)gGa>gAa	p.G26E	METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E|METAP2_ENST00000261220.9_Missense_Mutation_p.G26E	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AGGGAAGAAGGAGCTGCCTCT	0.557																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(76-78)gGa>gAa		methionyl aminopeptidase 2	L-Methionine(DB00134)						61	74	70					12																	95868032		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.chr12:95868032G>A	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.77G>A	12.37:g.95868032G>A	ENSP00000325312:p.Gly26Glu		Somatic				METAP2_ENST00000261220.9_Missense_Mutation_p.G26E|METAP2_ENST00000546753.1_Missense_Mutation_p.G26E|METAP2_ENST00000551840.1_Missense_Mutation_p.G26E|METAP2_ENST00000550777.1_Missense_Mutation_p.G26E	p.G26E	NM_006838.3	NP_006829.1	WXS	Illumina GAIIx	Phase_I	P50579	AMPM2_HUMAN			1	306	+			26						Missense_Mutation	SNP	ENST00000323666.5	37	c.77G>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827880	0.50845	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.06	1.99	0.26369	.	0.393532	0.25109	N	0.033069	T	0.28200	0.0696	N	0.08118	0	0.27686	N	0.946278	B;P;P;D;P	0.89917	0.028;0.722;0.846;1.0;0.761	B;B;B;D;B	0.87578	0.021;0.052;0.446;0.998;0.26	T	0.20940	-1.0260	9	0.07990	T	0.79	-10.4836	5.2	0.15258	0.188:0.1688:0.6432:0.0	.	26;26;26;26;26	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	E	26	.	ENSP00000261220:G26E	G	+	2	0	METAP2	94392163	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	0.735000	0.26115	0.631000	0.30412	0.462000	0.41574	GGA		0.557	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		15	25	15	25	---	---	---	---	A	95868032	G	A	95868032	3	1	327	1	0	0	0	0	1	0	0	0	9487	1174	41	2	79	2	METAP2	12	95868032	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	37873310	95868032	37983863	24	11753										
MIPOL1	145282	broad.mit.edu	37	chr14	37736347	37736347	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ttcttatccagatgatgagtCtgtttactgcactactgaaa	7	8	2	4	rs375523919		TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:37736347C>G	ENST00000327441.7	+	5	690	c.224C>G	c.(223-225)tCt>tGt	p.S75C	MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000536774.1_Intron	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	75						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GATGATGAGTCTGTTTACTGC	0.423																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(223-225)tCt>tGt		mirror-image polydactyly 1							80	75	77					14																	37736347		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37736347C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.224C>G	14.37:g.37736347C>G	ENSP00000333539:p.Ser75Cys		Somatic				MIPOL1_ENST00000545536.1_Missense_Mutation_p.S44C|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S75C|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S75C|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S44C|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S44C	p.S75C	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	WXS	Illumina GAIIx	Phase_I	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	5	690	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		75					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.224C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476964	0.26511	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.47869	0.86;0.86;0.83;0.86;0.86;0.83	5.19	1.25	0.21368	.	1.280610	0.05234	N	0.510974	T	0.36580	0.0972	L	0.29908	0.895	0.09310	N	1	P;P	0.45827	0.785;0.867	B;B	0.41946	0.371;0.35	T	0.26121	-1.0112	10	0.72032	D	0.01	1.2426	4.2501	0.10691	0.1579:0.5836:0.0:0.2585	.	75;44	Q8TD10;Q49AL5	MIPO1_HUMAN;.	C	75;75;44;44;75;75;75;44	ENSP00000333539:S75C;ENSP00000438319:S44C;ENSP00000450479:S44C;ENSP00000379589:S75C;ENSP00000444254:S75C;ENSP00000442529:S44C	ENSP00000333539:S75C	S	+	2	0	MIPOL1	36806098	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	0.635000	0.24629	0.051000	0.15978	-0.150000	0.13652	TCT		0.423	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		14	16	14	16	---	---	---	---	G	37736347	C	G	37736347	3	3	327	1	0	0	0	0	1	0	0	0	9593	913	32	4	230	4	MIPOL1	14	37736347	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		37736347	69613193	25	11754										
FOXA1	3169	broad.mit.edu	37	chr14	38061313	38061313	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tgccaccttgacgaagcagtCattgaaggacagcgagtggc	13	10	1	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr14:38061313C>T	ENST00000250448.2	-	2	737	c.676G>A	c.(676-678)Gac>Aac	p.D226N	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	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)	p.D226N(2)|p.D226Y(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)		ACGAAGCAGTCATTGAAGGAC	0.607																																						ENST00000250448.2																			3	Substitution - Missense(3)	p.D226N(2)|p.D226Y(1)	prostate(3)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(676-678)Gac>Aac		forkhead box A1							49	48	49					14																	38061313		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.chr14:38061313C>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.676G>A	14.37:g.38061313C>T	ENSP00000250448:p.Asp226Asn		Somatic				FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D193N	p.D226N	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	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	737	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		226					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.676G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067571	0.93898	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95622	-3.76;-3.76	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	0.97151	0.9069	M	0.81179	2.53	0.80722	D	1	D	0.57257	0.979	P	0.61658	0.892	D	0.97871	1.0286	10	0.87932	D	0	.	15.0053	0.71507	0.0:1.0:0.0:0.0	.	226	P55317	FOXA1_HUMAN	N	226;193	ENSP00000250448:D226N;ENSP00000440178:D193N	ENSP00000250448:D226N	D	-	1	0	FOXA1	37131064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.547000	0.82146	2.057000	0.61298	0.400000	0.26472	GAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			16	18	16	18	---	---	---	---	T	38061313	C	T	38061313	3	4	327	1	0	0	0	0	1	0	0	0	5989	826	29	2	746	2	FOXA1	14	38061313	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	324966	38061313	69288227	26	11755										
TSC2	7249	broad.mit.edu	37	chr16	2136230	2136230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ccatcctgtccaatgagcatGgctcctacaggtacacggag	10	13	0	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:2136230G>C	ENST00000219476.3	+	37	5329	c.4699G>C	c.(4699-4701)Ggc>Cgc	p.G1567R	TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1567	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)				CAATGAGCATGGCTCCTACAG	0.667			"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.(4699-4701)Ggc>Cgc		tuberous sclerosis 2							82	71	75					16																	2136230		2198	4298	6496	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.chr16:2136230G>C	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.4699G>C	16.37:g.2136230G>C	ENSP00000219476:p.Gly1567Arg		Somatic				TSC2_ENST00000439673.2_Missense_Mutation_p.G1464R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1452R|TSC2_ENST00000401874.2_Missense_Mutation_p.G1500R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1524R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1544R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1511R	p.G1567R	NM_000548.3	NP_000539.2	WXS	Illumina GAIIx	Phase_I	P49815	TSC2_HUMAN			37	5329	+		Hepatocellular(780;0.0202)	1567			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4699G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527722	0.85706	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.91872	3.25	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	0.99437	1.0937	10	0.87932	D	0	-36.8958	17.3319	0.87267	0.0:0.0:1.0:0.0	.	1452;1464;1544;342;1523;1500;1567	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	R	1567;1501;1524;1464;1452;1544	ENSP00000219476:G1567R;ENSP00000248099:G1524R;ENSP00000399232:G1464R;ENSP00000371978:G1452R;ENSP00000344383:G1544R	ENSP00000219476:G1567R	G	+	1	0	TSC2	2076231	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	7.736000	0.84948	2.319000	0.78375	0.561000	0.74099	GGC		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		16	17	16	17	---	---	---	---	C	2136230	G	C	2136230	3	2	327	1	0	0	0	0	1	0	0	0	16603	1348	47	4	4841	4	TSC2	16	2136230	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		2136230	88218523	27	11756										
CETP	1071	broad.mit.edu	37	chr16	57003576	57003576	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	cgactctgccattgacctccAgatcaacacacagctgagta	7	14	2	3			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr16:57003576A>T	ENST00000566128.1	+	4	494	c.227A>T	c.(226-228)cAg>cTg	p.Q76L	CETP_ENST00000200676.3_Missense_Mutation_p.Q141L|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000569082.1_3'UTR					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATTGACCTCCAGATCAACACA	0.577																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(421-423)cAg>cTg		cholesteryl ester transfer protein, plasma							130	107	115					16																	57003576		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57003576A>T	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.227A>T	16.37:g.57003576A>T	ENSP00000456276:p.Gln76Leu		Somatic				CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.Q141L|CETP_ENST00000566128.1_Missense_Mutation_p.Q76L	p.Q141L	NM_000078.2	NP_000069.2	WXS	Illumina GAIIx	Phase_I	P11597	CETP_HUMAN			4	552	+			141						Missense_Mutation	SNP	ENST00000566128.1	37	c.422A>T		.	.	.	.	.	.	.	.	.	.	A	10.71	1.426674	0.25726	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.05925	3.37;3.37	4.07	4.07	0.47477	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.418236	0.24240	U	0.040276	T	0.05731	0.0150	L	0.29908	0.895	0.27333	N	0.956712	B;B	0.33238	0.403;0.374	B;B	0.34242	0.075;0.178	T	0.29150	-1.0021	10	0.34782	T	0.22	-7.7388	10.4205	0.44348	1.0:0.0:0.0:0.0	.	141;141	P11597-2;P11597	.;CETP_HUMAN	L	141	ENSP00000200676:Q141L;ENSP00000369106:Q141L	ENSP00000200676:Q141L	Q	+	2	0	CETP	55561077	1.000000	0.71417	0.461000	0.27105	0.437000	0.31866	3.943000	0.56621	1.481000	0.48307	0.533000	0.62120	CAG		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		17	42	17	42	---	---	---	---	T	57003576	A	T	57003576	3	4	327	1	0	0	0	0	1	0	0	0	3277	188	7	5	436	5	CETP	16	57003576	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08	54867346	57003576	33351177	28	11757										
TOP3A	7156	broad.mit.edu	37	chr17	18181563	18181563	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	ctgggggggccccctgaaaaTctcaggtccaggatctccct	12	14	2	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr17:18181563T>A	ENST00000321105.5	-	18	2467	c.2253A>T	c.(2251-2253)agA>agT	p.R751S	TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	751					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						CCCCTGAAAATCTCAGGTCCA	0.622																																						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.(2251-2253)agA>agT		topoisomerase (DNA) III alpha							33	39	37					17																	18181563		2202	4299	6501	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181563T>A	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.2253A>T	17.37:g.18181563T>A	ENSP00000321636:p.Arg751Ser		Somatic				TOP3A_ENST00000540524.1_Missense_Mutation_p.R281S|TOP3A_ENST00000542570.1_Missense_Mutation_p.R656S	p.R751S	NM_004618.3	NP_004609.1	WXS	Illumina GAIIx	Phase_I	Q13472	TOP3A_HUMAN			18	2467	-			751					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2253A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	9.424	1.083802	0.20309	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.11277	3.16;2.79;3.16	5.72	-0.366	0.12545	.	0.091183	0.64402	D	0.000001	T	0.07503	0.0189	L	0.39898	1.24	0.34285	D	0.682544	B;B	0.24092	0.097;0.042	B;B	0.26094	0.066;0.028	T	0.37384	-0.9708	10	0.17369	T	0.5	-15.3437	7.2946	0.26385	0.0:0.2725:0.1232:0.6043	.	656;751	B4DK80;Q13472	.;TOP3A_HUMAN	S	751;281;656	ENSP00000321636:R751S;ENSP00000446425:R281S;ENSP00000442336:R656S	ENSP00000321636:R751S	R	-	3	2	TOP3A	18122288	0.402000	0.25311	0.144000	0.22314	0.330000	0.28571	-0.009000	0.12765	-0.306000	0.08818	0.448000	0.29417	AGA		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			21	30	21	30	---	---	---	---	A	18181563	T	A	18181563	3	1	327	1	0	0	0	0	1	0	0	0	16364	1432	50	5	760	5	TOP3A	17	18181563	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08		18181563	63013647	29	11758										
ABCA7	10347	broad.mit.edu	37	chr19	1050920	1050920	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	tgagacccctctatccacagGtccatcttgagtggcctctt	8	14	3	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:1050920G>C	ENST00000263094.6	+	19	2784	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	851	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		CTATCCACAGGTCCATCTTGA	0.527																																						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.(2551-2553)ctG>ctC		ATP-binding cassette, sub-family A (ABC1), member 7							70	72	71					19																	1050920		2200	4286	6486	SO:0001630	splice_region_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.chr19:1050920G>C	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.2553-1G>C	19.37:g.1050920G>C			Somatic				ABCA7_ENST00000433129.1_Splice_Site_p.L851L|ABCA7_ENST00000435683.2_Splice_Site_p.L713L	p.L851L	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	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)	19	2784	+		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)	851			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.2553G>C	CCDS12055.1																																																																																				0.527	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Silent	9	72	9	72	---	---	---	---	C	1050920	G	C	1050920	5	2	327	1	0	0	0	0	0	0	1	0	37	1275	44	4	2623	4	ABCA7	19	1050920	Splice_Site	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08		1050920	58078063	30	11759										
NCAN	1463	broad.mit.edu	37	chr19	19335210	19335210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gcgcaacccacaggaactctAcgatgtgtattgctttgccc	9	13	1	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:19335210A>G	ENST00000252575.6	+	5	845	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	249	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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)	CAGGAACTCTACGATGTGTAT	0.587																																						ENST00000252575.6																			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.(745-747)tAc>tGc		neurocan							107	104	105					19																	19335210		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19335210A>G	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.746A>G	19.37:g.19335210A>G	ENSP00000252575:p.Tyr249Cys		Somatic					p.Y249C	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		5	845	+						Link 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.746A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883638	0.72410	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.14893	2.47	4.83	4.83	0.62350	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.30791	N	0.008867	T	0.53674	0.1811	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68330	-0.5437	10	0.87932	D	0	.	12.3637	0.55217	1.0:0.0:0.0:0.0	.	249	O14594	NCAN_HUMAN	C	263;249	ENSP00000252575:Y249C	ENSP00000252575:Y249C	Y	+	2	0	NCAN	19196210	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.389000	0.59639	1.817000	0.53016	0.459000	0.35465	TAC		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		21	25	21	25	---	---	---	---	G	19335210	A	G	19335210	3	3	327	1	0	0	0	0	1	0	0	0	10204	391	14	2	760	2	NCAN	19	19335210	Missense_Mutation	SNP	A	TCGA-YL-A9WI-01A-11D-A377-08	18284290	19335210	39793773	31	11760										
ZNF146	7705	broad.mit.edu	37	chr19	36727583	36727583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gtaatgaatgtggaaaatcaTttagccagaaggaaaacctc	9	6	1	2			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:36727583T>C	ENST00000443387.2	+	4	1233	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.F81L	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	81					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)					TGGAAAATCATTTAGCCAGAA	0.398																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(241-243)Ttt>Ctt		zinc finger protein 146							82	87	85					19																	36727583		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727583T>C	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.241T>C	19.37:g.36727583T>C	ENSP00000392095:p.Phe81Leu		Somatic				ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F81L	p.F81L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	WXS	Illumina GAIIx	Phase_I	Q15072	OZF_HUMAN			3	1690	+	Esophageal squamous(110;0.162)		81					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.241T>C	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720742	0.89205	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.41065	1.01;1.01	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000915	T	0.62073	0.2398	M	0.85197	2.74	0.42584	D	0.993229	D	0.53462	0.96	P	0.56612	0.802	T	0.70655	-0.4812	10	0.87932	D	0	-13.605	13.7155	0.62693	0.0:0.0:0.0:1.0	.	81	Q15072	OZF_HUMAN	L	81	ENSP00000392095:F81L;ENSP00000400391:F81L	ENSP00000392095:F81L	F	+	1	0	ZNF146	41419423	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.594000	0.67557	2.237000	0.73441	0.529000	0.55759	TTT		0.398	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		9	85	9	85	---	---	---	---	C	36727583	T	C	36727583	3	2	327	1	0	0	0	0	1	0	0	0	17730	1493	52	2	243	2	ZNF146	19	36727583	Missense_Mutation	SNP	T	TCGA-YL-A9WI-01A-11D-A377-08	17392373	36727583	22401400	32	11761										
SCAF1	58506	broad.mit.edu	37	chr19	50156102	50156102	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	agtcagcagcggctcaggctCttcatcctcgtcgtcctcct	9	16	4	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:50156102C>T	ENST00000360565.3	+	7	2580	c.2456C>T	c.(2455-2457)tCt>tTt	p.S819F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	819	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCTCAGGCTCTTCATCCTCG	0.662																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(2455-2457)tCt>tTt		SR-related CTD-associated factor 1							61	73	69					19																	50156102		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156102C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2456C>T	19.37:g.50156102C>T	ENSP00000353769:p.Ser819Phe		Somatic					p.S819F	NM_021228.2	NP_067051.2	WXS	Illumina GAIIx	Phase_I	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2580	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	819			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2456C>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620695	0.28889	.	.	ENSG00000126461	ENST00000360565	T	0.34472	1.36	3.11	3.11	0.35812	.	.	.	.	.	T	0.42787	0.1218	L	0.27053	0.805	0.28906	N	0.892981	D	0.64830	0.994	D	0.74348	0.983	T	0.16778	-1.0391	8	.	.	.	-15.7573	9.958	0.41680	0.0:1.0:0.0:0.0	.	819	Q9H7N4	SFR19_HUMAN	F	819	ENSP00000353769:S819F	.	S	+	2	0	SCAF1	54847914	.	.	0.888000	0.34837	0.744000	0.42396	.	.	2.046000	0.60703	0.561000	0.74099	TCT		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		9	8	9	8	---	---	---	---	T	50156102	C	T	50156102	3	4	327	1	0	0	0	0	1	0	0	0	13868	913	32	2	2478	2	SCAF1	19	50156102	Missense_Mutation	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08	13428519	50156102	8972881	33	11762										
KLK4	9622	broad.mit.edu	37	chr19	51412612	51412612	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	gccgcctgccagggctgcgaGtgcgggctgcagtcctcgcc	16	16	0	0			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chr19:51412612G>C	ENST00000324041.1	-	2	119	c.120C>G	c.(118-120)caC>caG	p.H40Q	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	40	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)		AGGGCTGCGAGTGCGGGCTGC	0.632																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(118-120)caC>caG		kallikrein-related peptidase 4							137	151	147					19																	51412612		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412612G>C	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.120C>G	19.37:g.51412612G>C	ENSP00000326159:p.His40Gln		Somatic					p.H40Q	NM_004917.3	NP_004908.3	WXS	Illumina GAIIx	Phase_I	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	119	-		all_neural(266;0.026)	40			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.120C>G	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.941165	0.53079	.	.	ENSG00000167749	ENST00000324041	D	0.93019	-3.15	3.96	1.62	0.23740	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.378221	0.19549	N	0.111616	D	0.89670	0.6782	M	0.64404	1.975	0.24603	N	0.993762	B	0.21147	0.052	B	0.12837	0.008	D	0.83708	0.0186	10	0.87932	D	0	.	6.4136	0.21704	0.106:0.0:0.7132:0.1807	.	40	Q9Y5K2	KLK4_HUMAN	Q	40	ENSP00000326159:H40Q	ENSP00000326159:H40Q	H	-	3	2	KLK4	56104424	0.993000	0.37304	0.752000	0.31206	0.641000	0.38312	1.209000	0.32357	1.013000	0.39391	0.561000	0.74099	CAC		0.632	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		19	153	19	153	---	---	---	---	C	51412612	G	C	51412612	3	2	327	1	0	0	0	0	1	0	0	0	8406	1020	36	4	660	4	KLK4	19	51412612	Missense_Mutation	SNP	G	TCGA-YL-A9WI-01A-11D-A377-08	1256510	51412612	7716371	34	11763										
MAGEC1	9947	broad.mit.edu	37	chrX	140996226	140996226	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0857142857142857	3	1	1.19235436893204	0.908460471567268	1.41316073354908	1	1	0	atcatcttcataaagggcacCtatgcctctgaggaggtcat	9	10	5	1			TCGA-YL-A9WI-01A-11D-A377-08	TCGA-YL-A9WI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a091da3-c073-477b-9381-2ca4d27d82f3	34e9198a-0d9e-4624-9f78-4b09ec5f2a6c	g.chrX:140996226C>A	ENST00000285879.4	+	4	3322	c.3036C>A	c.(3034-3036)acC>acA	p.T1012T	MAGEC1_ENST00000406005.2_Silent_p.T79T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1012	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)					TAAAGGGCACCTATGCCTCTG	0.547										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.(3034-3036)acC>acA		melanoma antigen family C, 1							87	79	82					X																	140996226		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996226C>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.3036C>A	X.37:g.140996226C>A		HNSCC(15;0.026)	Somatic				MAGEC1_ENST00000406005.2_Silent_p.T79T	p.T1012T	NM_005462.4	NP_005453.2	WXS	Illumina GAIIx	Phase_I	O60732	MAGC1_HUMAN			4	3322	+	Acute lymphoblastic leukemia(192;6.56e-05)		1012			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3036C>A	CCDS35417.1																																																																																				0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		50	7	50	7	---	---	---	---	A	140996226	C	A	140996226	2	1	327	1	0	0	0	0	0	0	0	1	9180	668	24	1		1	MAGEC1	23	140996226	Silent	SNP	C	TCGA-YL-A9WI-01A-11D-A377-08		140996226	14274334	35	11764										
PHACTR4	65979	broad.mit.edu	37	chr1	28800433	28800433	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	aaaaaggaagtccccaagagGatactggaccagaactttgg	11	8	0	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:28800433G>C	ENST00000373839.3	+	7	1452	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	397	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)		TCCCCAAGAGGATACTGGACC	0.512																																						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.(1189-1191)agG>agC		phosphatase and actin regulator 4							72	73	72					1																	28800433		1888	4110	5998	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800433G>C	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.1191G>C	1.37:g.28800433G>C	ENSP00000362945:p.Arg397Ser		Somatic				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S	p.R397S	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	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)	7	1452	+		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)	397			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1191G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033599	0.35893	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23348	1.91;1.94	5.75	2.87	0.33458	.	0.485801	0.23756	N	0.044876	T	0.11580	0.0282	N	0.16478	0.41	0.31005	N	0.71987	P;P	0.38504	0.634;0.501	B;B	0.34242	0.178;0.086	T	0.19811	-1.0294	10	0.07990	T	0.79	-2.3338	8.8223	0.35034	0.232:0.0:0.768:0.0	.	407;397	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	S	397;407;396	ENSP00000362945:R397S;ENSP00000362942:R407S	ENSP00000362942:R407S	R	+	3	2	PHACTR4	28673020	0.998000	0.40836	0.959000	0.39883	0.994000	0.84299	1.904000	0.39868	0.356000	0.24157	0.655000	0.94253	AGG		0.512	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		6	37	6	37	---	---	---	---	C	28800433	G	C	28800433	3	2	328	1	0	0	0	0	1	0	0	0	11812	1165	41	4	1263	4	PHACTR4	1	28800433	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		28800433	220450188	1	11765										
HFM1	164045	broad.mit.edu	37	chr1	91846485	91846486	+	Missense_Mutation	DNP	GA	GA	AC													0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	ttacatcatcaaaggccttgGactgtatatagttgaaatat							TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846485_91846486GA>AC	ENST00000370425.3	-	7	954_955	c.856_857TC>GT	c.(856-858)TCc>GTc	p.S286V	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286					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)		AAAGGCCTTGGACTGTATATAG	0.277																																						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.(856-858)tCc>tTc|c.(856-858)Tcc>Gcc		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846485G>A|g.chr1:91846486A>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.856_857delinsAC	1.37:g.91846485_91846486delinsAC	ENSP00000359454:p.Ser286Val		Somatic				HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	p.S286F|p.S286A	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	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	955|954	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.857C>T|c.856T>G	CCDS30769.2																																																																																				0.277	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	45	9	45	---	---	---	---	AC	91846486	GA	AC	91846485	3	1	328	1	0	0	0	0	1	0	0	0	7083	1174	41	2	3582	2	HFM1	1	91846485	Missense_Mutation	DNP	GA	TCGA-YL-A9WJ-01A-11D-A377-08	63046052	91846485	157404136	2	11766										
HRNR	388697	broad.mit.edu	37	chr1	152187688	152187688	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	cccctagatgactgtcctgaTctagagccgtgttgtccgta	10	12	1	4			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:152187688T>C	ENST00000368801.2	-	3	6492	c.6417A>G	c.(6415-6417)agA>agG	p.R2139R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					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)			ACTGTCCTGATCTAGAGCCGT	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.(6415-6417)agA>agG		hornerin							170	189	183					1																	152187688		1592	3264	4856	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187688T>C	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.6417A>G	1.37:g.152187688T>C			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2139R	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6492	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2139					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6417A>G	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	837	8	837	---	---	---	---	C	152187688	T	C	152187688	2	2	328	1	0	0	0	0	0	0	0	1	7359	1432	50	2		2	HRNR	1	152187688	Silent	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08	60341203	152187688	97062933	3	11767										
NPHP1	4867	broad.mit.edu	37	chr2	110922636	110922636	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	cccacttttgtacctttgctTaacttctgctccatctgctg	5	14	2	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:110922636T>A	ENST00000393272.3	-	7	818	c.721A>T	c.(721-723)Aag>Tag	p.K241*	NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.K241*	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	241					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						TACCTTTGCTTAACTTCTGCT	0.348																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(721-723)Aag>Tag		nephronophthisis 1 (juvenile)							185	170	175					2																	110922636		2203	4300	6503	SO:0001587	stop_gained	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.chr2:110922636T>A	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.721A>T	2.37:g.110922636T>A	ENSP00000376953:p.Lys241*		Somatic				NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.K241*	p.K241*			WXS	Illumina GAIIx	Phase_I	O15259	NPHP1_HUMAN			7	794	-			241					O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.721A>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	33	5.208049	0.95033	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	.	.	.	5.15	3.99	0.46301	.	0.362231	0.31370	N	0.007774	.	.	.	.	.	.	0.23425	N	0.997701	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6479	9.0306	0.36256	0.0:0.0888:0.0:0.9112	.	.	.	.	X	241;241;241;179;241	.	ENSP00000313169:K241X	K	-	1	0	NPHP1	110279925	0.390000	0.25213	0.017000	0.16124	0.979000	0.70002	1.670000	0.37502	0.807000	0.34208	0.460000	0.39030	AAG		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		14	52	14	52	---	---	---	---	A	110922636	T	A	110922636	4	1	328	1	0	0	0	0	0	1	0	0	10579	1763	61	5	1536	5	NPHP1	2	110922636	Nonsense_Mutation	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08		110922636	132276737	4	11768										
LRP1B	53353	broad.mit.edu	37	chr2	141108382	141108382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	ttacaatcaagccactgtttGcttgccttttttctctgcca	5	12	2	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:141108382G>T	ENST00000389484.3	-	77	12847	c.11876C>A	c.(11875-11877)gCa>gAa	p.A3959E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3959					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)		GCCACTGTTTGCTTGCCTTTT	0.318										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.(11875-11877)gCa>gAa		low density lipoprotein receptor-related protein 1B							68	70	69					2																	141108382		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108382G>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.11876C>A	2.37:g.141108382G>T	ENSP00000374135:p.Ala3959Glu	TSP Lung(27;0.18)	Somatic					p.A3959E	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	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	12847	-		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)	3959					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11876C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.808|2.808	-0.247595|-0.247595	0.05867|0.05867	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90676|.	-2.71|.	5.48|5.48	4.6|4.6	0.57074|0.57074	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.539150|.	0.16804|.	N|.	0.198852|.	T|T	0.24547|0.24547	0.0595|0.0595	N|N	0.14661|0.14661	0.345|0.345	0.24143|0.24143	N|N	0.995726|0.995726	B|.	0.21606|.	0.058|.	B|.	0.18561|.	0.022|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.24483|.	T|.	0.36|.	.|.	10.6749|10.6749	0.45781|0.45781	0.0764:0.168:0.7556:0.0|0.0764:0.168:0.7556:0.0	.|.	3959|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	3959;3897|191	ENSP00000374135:A3959E|.	ENSP00000374135:A3959E|.	A|Q	-|-	2|1	0|0	LRP1B|LRP1B	140824852|140824852	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	4.069000|4.069000	0.57541|0.57541	1.452000|1.452000	0.47756|0.47756	-0.140000|-0.140000	0.14226|0.14226	GCA|CAA		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	38	7	38	---	---	---	---	T	141108382	G	T	141108382	3	4	328	1	0	0	0	0	1	0	0	0	8955	1319	46	3	1983	3	LRP1B	2	141108382	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	30185746	141108382	102090991	5	11769										
ZNF142	7701	broad.mit.edu	37	chr2	219508714	219508714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	tctcccggcgagtgataaaaGggcagtgtgggcagcggaag	17	8	1	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:219508714G>C	ENST00000449707.1	-	8	2946	c.2525C>G	c.(2524-2526)cCt>cGt	p.P842R	ZNF142_ENST00000411696.2_Missense_Mutation_p.P842R	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	842					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)		AGTGATAAAAGGGCAGTGTGG	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.(2524-2526)cCt>cGt		zinc finger protein 142							116	124	121					2																	219508714		2037	4164	6201	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508714G>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.2525C>G	2.37:g.219508714G>C	ENSP00000408643:p.Pro842Arg		Somatic				ZNF142_ENST00000449707.1_Missense_Mutation_p.P842R	p.P842R			WXS	Illumina GAIIx	Phase_I	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	3304	-		Renal(207;0.0474)	842					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2525C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071033	0.76301	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.27890	1.64;1.64	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);	0.115539	0.64402	D	0.000013	T	0.48607	0.1509	L	0.41492	1.28	0.40975	D	0.984731	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35699	-0.9778	10	0.40728	T	0.16	-17.5347	18.9765	0.92738	0.0:0.0:1.0:0.0	.	842;679	P52746;A8MWU9	ZN142_HUMAN;.	R	842	ENSP00000408643:P842R;ENSP00000398798:P842R	ENSP00000398798:P842R	P	-	2	0	ZNF142	219216958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.444000	0.73452	2.720000	0.93068	0.655000	0.94253	CCT		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		19	58	19	58	---	---	---	---	C	219508714	G	C	219508714	3	2	328	1	0	0	0	0	1	0	0	0	17728	1000	35	4	2550	4	ZNF142	2	219508714	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	78400332	219508714	23690659	6	11770										
PCDH10	57575	broad.mit.edu	37	chr4	134073272	134073272	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	ccttatgagctggtgatcgaGgtgcgcgaccatgggcagcc	15	11	0	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:134073272G>C	ENST00000264360.5	+	1	2803	c.1977G>C	c.(1975-1977)gaG>gaC	p.E659D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	659	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)		TGGTGATCGAGGTGCGCGACC	0.711																																						ENST00000264360.5																			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.(1975-1977)gaG>gaC		protocadherin 10							18	21	20					4																	134073272		2190	4290	6480	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073272G>C	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.1977G>C	4.37:g.134073272G>C	ENSP00000264360:p.Glu659Asp		Somatic					p.E659D	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2803	+						Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1977G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232540	0.39498	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39229	1.09	4.47	3.58	0.41010	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000477	T	0.51873	0.1700	L	0.56769	1.78	0.58432	D	0.999992	D;P	0.71674	0.998;0.645	D;P	0.80764	0.994;0.707	T	0.50591	-0.8810	10	0.13108	T	0.6	.	7.7283	0.28773	0.204:0.0:0.796:0.0	.	659;659	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	659	ENSP00000264360:E659D	ENSP00000264360:E659D	E	+	3	2	PCDH10	134292722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.549000	0.60726	1.012000	0.39366	0.655000	0.94253	GAG		0.711	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	23	6	23	---	---	---	---	C	134073272	G	C	134073272	3	2	328	1	0	0	0	0	1	0	0	0	11507	991	35	4	1979	4	PCDH10	4	134073272	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		134073272	57081004	7	11771										
FGA	2243	broad.mit.edu	37	chr4	155507041	155507041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gaagaaggcagcttcatcagGgtgcctatggcggaacccat	13	10	2	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:155507041G>T	ENST00000302053.3	-	5	1618	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	FGA_ENST00000403106.3_Missense_Mutation_p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	514					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)	GCTTCATCAGGGTGCCTATGG	0.498																																					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.(1540-1542)Cct>Act		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100	98	99					4																	155507041		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.chr4:155507041G>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.1540C>A	4.37:g.155507041G>T	ENSP00000306361:p.Pro514Thr		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.P514T	p.P514T	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	1618	-	all_hematologic(180;0.215)	Renal(120;0.0458)	514					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1540C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471107	0.26423	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58506	0.33;2.49	5.65	2.94	0.34122	.	.	.	.	.	T	0.47581	0.1453	L	0.53249	1.67	0.09310	N	1	B;P	0.34546	0.379;0.456	B;B	0.27170	0.077;0.068	T	0.33497	-0.9866	9	0.49607	T	0.09	.	8.2506	0.31715	0.0716:0.0:0.6318:0.2966	.	514;514	P02671-2;P02671	.;FIBA_HUMAN	T	514	ENSP00000306361:P514T;ENSP00000385981:P514T	ENSP00000306361:P514T	P	-	1	0	FGA	155726491	0.390000	0.25213	0.001000	0.08648	0.023000	0.10783	1.588000	0.36633	0.449000	0.26747	-0.182000	0.12963	CCT		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		21	69	21	69	---	---	---	---	T	155507041	G	T	155507041	3	4	328	1	0	0	0	0	1	0	0	0	5830	1232	43	1	1112	1	FGA	4	155507041	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	21433769	155507041	35647235	8	11772										
FSTL5	56884	broad.mit.edu	37	chr4	162307016	162307016	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	tccttggaaggtgtcatcagGtattgaccaaacaagccact	9	10	2	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:162307016G>T	ENST00000306100.5	-	16	2863	c.2427C>A	c.(2425-2427)taC>taA	p.Y809*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	809						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)		GTGTCATCAGGTATTGACCAA	0.418																																						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.(2425-2427)taC>taA		follistatin-like 5							202	183	189					4																	162307016		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162307016G>T	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.2427C>A	4.37:g.162307016G>T	ENSP00000305334:p.Tyr809*		Somatic				FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*	p.Y809*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	WXS	Illumina GAIIx	Phase_I	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2863	-	all_hematologic(180;0.24)		809					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.2427C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	41	8.710224	0.98925	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.73	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.118	0.30955	0.3377:0.0:0.6623:0.0	.	.	.	.	X	809;808;799;808	.	ENSP00000305334:Y809X	Y	-	3	2	FSTL5	162526466	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.228000	0.42981	0.722000	0.32252	0.655000	0.94253	TAC		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		33	105	33	105	---	---	---	---	T	162307016	G	T	162307016	4	4	328	1	0	0	0	0	0	1	0	0	6080	1256	44	3	120	3	FSTL5	4	162307016	Nonsense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	6799975	162307016	28847260	9	11773										
COL28A1	340267	broad.mit.edu	37	chr7	7514264	7514264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gattgacaggccttgtaatcCctgtgggccagttggtcctt	12	10	0	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:7514264C>T	ENST00000399429.3	-	15	1410	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	424					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)		CCTTGTAATCCCTGTGGGCCA	0.393																																						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.(1270-1272)Gga>Aga		collagen, type XXVIII, alpha 1							136	136	136					7																	7514264		1846	4106	5952	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7514264C>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.1270G>A	7.37:g.7514264C>T	ENSP00000382356:p.Gly424Arg		Somatic					p.G424R	NM_001037763.2	NP_001032852.2	WXS	Illumina GAIIx	Phase_I	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	15	1410	-		Ovarian(82;0.0789)	424					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1270G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071447	0.76301	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.94758	-3.51	4.7	4.7	0.59300	.	0.000000	0.53938	U	0.000053	D	0.98160	0.9392	H	0.97564	4.03	0.38796	D	0.955096	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	D	0.99790	1.1031	10	0.87932	D	0	-6.096	13.346	0.60573	0.0:1.0:0.0:0.0	.	424;424	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	R	424	ENSP00000382356:G424R	ENSP00000382347:G424R	G	-	1	0	COL28A1	7480789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.514000	0.45503	2.609000	0.88269	0.650000	0.86243	GGA		0.393	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	44	5	44	---	---	---	---	T	7514264	C	T	7514264	3	4	328	1	0	0	0	0	1	0	0	0	3686	632	22	2	2191	2	COL28A1	7	7514264	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		7514264	151624399	10	11774										
MYPN	84665	broad.mit.edu	37	chr10	69881645	69881645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	acccagtccaaaaaagtattTttaaataaggctgccgactt	6	9	0	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr10:69881645T>C	ENST00000358913.5	+	2	938	c.450T>C	c.(448-450)ttT>ttC	p.F150F	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.F150F|MYPN_ENST00000373675.3_Silent_p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	150	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						AAAAAGTATTTTTAAATAAGG	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.(448-450)ttT>ttC		myopalladin							43	44	44					10																	69881645		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69881645T>C	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.450T>C	10.37:g.69881645T>C			Somatic				MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F|MYPN_ENST00000540630.1_Silent_p.F150F	p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	WXS	Illumina GAIIx	Phase_I	Q86TC9	MYPN_HUMAN			2	938	+			150			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.450T>C	CCDS7275.1																																																																																				0.458	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	29	5	29	---	---	---	---	C	69881645	T	C	69881645	2	2	328	1	0	0	0	0	0	0	0	1	10098	1838	64	2		2	MYPN	10	69881645	Silent	SNP	T	TCGA-YL-A9WJ-01A-11D-A377-08		69881645	65653102	11	11775										
MS4A14	84689	broad.mit.edu	37	chr11	60183438	60183438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	cagtagaaggcctgtcagaaCaaaccatgccatctaagtct	8	11	3	2	rs150784858		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:60183438C>A	ENST00000300187.6	+	5	1274	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	333						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						CCTGTCAGAACAAACCATGCC	0.453																																						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.(997-999)Caa>Aaa		membrane-spanning 4-domains, subfamily A, member 14							120	105	110					11																	60183438		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183438C>A	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.997C>A	11.37:g.60183438C>A	ENSP00000300187:p.Gln333Lys		Somatic				MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K	p.Q333K	NM_032597.4	NP_115986.3	WXS	Illumina GAIIx	Phase_I	Q96JA4	M4A14_HUMAN			5	1274	+			333					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.997C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013241	0.35511	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.39787	1.1;2.21;1.06;2.56	3.59	1.61	0.23674	.	4.832760	0.00481	N	0.000140	T	0.36413	0.0966	L	0.32530	0.975	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.24394	0.053;0.024	T	0.35871	-0.9771	10	0.87932	D	0	0.5753	8.2921	0.31963	0.4306:0.5694:0.0:0.0	.	316;333	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	221;333;316;366	ENSP00000437222:Q221K;ENSP00000300187:Q333K;ENSP00000378453:Q316K;ENSP00000433761:Q366K	ENSP00000300187:Q333K	Q	+	1	0	MS4A14	59940014	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-0.913000	0.04042	0.452000	0.26830	-0.188000	0.12872	CAA		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			7	32	7	32	---	---	---	---	A	60183438	C	A	60183438	3	1	328	1	0	0	0	0	1	0	0	0	9858	479	17	3	1015	3	MS4A14	11	60183438	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		60183438	74823078	12	11776										
OR10G8	219869	broad.mit.edu	37	chr11	123901102	123901102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	tggccctggtcttttcatttAcctgaggccaggctccagga	11	12	2	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:123901102A>G	ENST00000431524.1	+	1	806	c.773A>G	c.(772-774)tAc>tGc	p.Y258C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	258						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)		CTTTTCATTTACCTGAGGCCA	0.557																																						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.(772-774)tAc>tGc		olfactory receptor, family 10, subfamily G, member 8							127	115	119					11																	123901102		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901102A>G	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.773A>G	11.37:g.123901102A>G	ENSP00000389072:p.Tyr258Cys		Somatic					p.Y258C	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	806	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	258					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.773A>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	A	8.175	0.792503	0.16258	.	.	ENSG00000234560	ENST00000431524	T	0.00295	8.25	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001518	T	0.00784	0.0026	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24512	-1.0158	10	0.87932	D	0	.	7.1408	0.25554	0.8841:0.0:0.1159:0.0	.	258	Q8NGN5	O10G8_HUMAN	C	258	ENSP00000389072:Y258C	ENSP00000389072:Y258C	Y	+	2	0	OR10G8	123406312	0.823000	0.29233	0.923000	0.36655	0.159000	0.22180	1.881000	0.39638	1.319000	0.45190	0.455000	0.32223	TAC		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		19	93	19	93	---	---	---	---	G	123901102	A	G	123901102	3	3	328	1	0	0	0	0	1	0	0	0	10903	391	14	2	775	2	OR10G8	11	123901102	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	63717664	123901102	11105414	13	11777										
FREM2	341640	broad.mit.edu	37	chr13	39263438	39263438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	aggacataacagagggcaggCtgttctatagacactctggg	13	8	2	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:39263438C>T	ENST00000280481.7	+	1	2173	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	653					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)		AGAGGGCAGGCTGTTCTATAG	0.532																																						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.(1957-1959)Ctg>Ttg		FRAS1 related extracellular matrix protein 2							72	66	68					13																	39263438		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.chr13:39263438C>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.1957C>T	13.37:g.39263438C>T			Somatic					p.L653L	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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	2173	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	653					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.1957C>T	CCDS31960.1																																																																																				0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		7	24	7	24	---	---	---	---	T	39263438	C	T	39263438	2	4	328	1	0	0	0	0	0	0	0	1	6045	796	28	2		2	FREM2	13	39263438	Silent	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		39263438	75906440	14	11778										
PCDH17	27253	broad.mit.edu	37	chr13	58299274	58299274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	tgtgcattccagagccagccGggattccagtgagatgggtg	15	9	0	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:58299274G>A	ENST00000377918.3	+	4	3352	c.3326G>A	c.(3325-3327)cGg>cAg	p.R1109Q		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)			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)		AGAGCCAGCCGGGATTCCAGT	0.517																																					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.(3325-3327)cGg>cAg		protocadherin 17							157	159	158					13																	58299274		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299274G>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.3326G>A	13.37:g.58299274G>A	ENSP00000367151:p.Arg1109Gln		Somatic					p.R1109Q	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3352	+		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.3326G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019445	0.35606	.	.	ENSG00000118946	ENST00000377918	T	0.50277	0.75	6.07	6.07	0.98685	.	0.061511	0.64402	D	0.000002	T	0.29288	0.0729	N	0.04508	-0.205	0.46458	D	0.999056	B	0.17667	0.023	B	0.06405	0.002	T	0.16394	-1.0404	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1109	O14917	PCD17_HUMAN	Q	1109	ENSP00000367151:R1109Q	.	R	+	2	0	PCDH17	57197275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.885000	0.99019	0.655000	0.94253	CGG		0.517	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	80	21	80	---	---	---	---	A	58299274	G	A	58299274	3	1	328	1	0	0	0	0	1	0	0	0	11512	1116	39	2	3340	2	PCDH17	13	58299274	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	19035836	58299274	56870604	15	11779										
SCEL	8796	broad.mit.edu	37	chr13	78167665	78167665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gaaggagtcaggatcttgatAacatcgtcaaagtggccact	11	8	3	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:78167665A>G	ENST00000349847.3	+	12	793	c.709A>G	c.(709-711)Aac>Gac	p.N237D	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.N215D	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	237					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)		GGATCTTGATAACATCGTCAA	0.373																																						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.(643-645)Aac>Gac		sciellin							131	120	124					13																	78167665		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78167665A>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.709A>G	13.37:g.78167665A>G	ENSP00000302579:p.Asn237Asp		Somatic				SCEL_ENST00000377246.3_Intron|SCEL_ENST00000349847.3_Missense_Mutation_p.N237D	p.N215D	NM_001160706.1	NP_001154178.1	WXS	Illumina GAIIx	Phase_I	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	11	813	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	237					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.643A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	5.409	0.260667	0.10239	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	T;T	0.22539	1.95;1.95	5.36	-1.49	0.08718	.	0.559652	0.17418	N	0.174924	T	0.09905	0.0243	L	0.28115	0.83	0.09310	N	1	B;B	0.15930	0.012;0.015	B;B	0.14023	0.004;0.01	T	0.34750	-0.9816	10	0.12766	T	0.61	-2.2163	4.7271	0.12946	0.4516:0.295:0.2533:0.0	.	215;237	F5H651;O95171	.;SCEL_HUMAN	D	215;237	ENSP00000437895:N215D;ENSP00000302579:N237D	ENSP00000302579:N237D	N	+	1	0	SCEL	77065666	0.007000	0.16637	0.000000	0.03702	0.729000	0.41735	0.135000	0.15952	-0.141000	0.11374	0.533000	0.62120	AAC		0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		5	34	5	34	---	---	---	---	G	78167665	A	G	78167665	3	3	328	1	0	0	0	0	1	0	0	0	13888	362	13	2	751	2	SCEL	13	78167665	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08	19868391	78167665	37002213	16	11780										
PDPR	55066	broad.mit.edu	37	chr16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	ttgacatgtcctctttcacaAagtttgagataacagtaagt	7	7	2	2	rs2549566	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					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)		CTCTTTCACAAAGTTTGAGAT	0.353																																						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.(1591-1593)Aag>Gag		pyruvate dehydrogenase phosphatase regulatory subunit							145	154	151					16																	70176575		1963	4167	6130	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.chr16:70176575A>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.1591A>G	16.37:g.70176575A>G	ENSP00000288050:p.Lys531Glu		Somatic				PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000562100.1_3'UTR	p.K531E	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	13	2548	+			531					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1591A>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831687	0.91036	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.74842	-0.88;-0.88	4.99	4.99	0.66335	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74023	0.925;0.982	D	0.90503	0.4475	10	0.87932	D	0	.	14.1577	0.65428	1.0:0.0:0.0:0.0	rs2549566	259;531	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	E	531;431;259	ENSP00000288050:K531E;ENSP00000381190:K431E	ENSP00000205055:K259E	K	+	1	0	PDPR	68734076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.020000	0.93667	2.005000	0.58758	0.454000	0.30748	AAG		0.353	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	73	4	73	---	---	---	---	G	70176575	A	G	70176575	3	3	328	1	0	0	0	0	1	0	0	0	11689	15	1	2	1633	2	PDPR	16	70176575	Missense_Mutation	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08		70176575	20178178	17	11781										
KRT38	8687	broad.mit.edu	37	chr17	39595066	39595066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gtgggctcaatgtccagctcAatccggagcttctcccccag	10	15	3	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:39595066A>G	ENST00000246646.3	-	4	776	c.777T>C	c.(775-777)atT>atC	p.I259I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	259	Linker 12.|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)				TGTCCAGCTCAATCCGGAGCT	0.567																																						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.(775-777)atT>atC		keratin 38							139	135	136					17																	39595066		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39595066A>G	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.777T>C	17.37:g.39595066A>G			Somatic					p.I259I	NM_006771.3	NP_006762.3	WXS	Illumina GAIIx	Phase_I	O76015	KRT38_HUMAN			4	776	-		Breast(137;0.000496)	259			Linker 12.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.777T>C	CCDS11392.1																																																																																				0.567	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		4	90	4	90	---	---	---	---	G	39595066	A	G	39595066	2	3	328	1	0	0	0	0	0	0	0	1	8475	126	5	2		2	KRT38	17	39595066	Silent	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08		39595066	41600144	18	11782										
METRNL	284207	broad.mit.edu	37	chr17	81042876	81042876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gtatctgcgctgtgcggcggGtgccgtggagtggatgtacc	18	9	1	0			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:81042876G>T	ENST00000320095.7	+	2	358	c.233G>T	c.(232-234)gGt>gTt	p.G78V	METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	78					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGTGCGGCGGGTGCCGTGGAG	0.642																																						ENST00000320095.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(232-234)gGt>gTt		meteorin, glial cell differentiation regulator-like							112	113	113					17																	81042876		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042876G>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.233G>T	17.37:g.81042876G>T	ENSP00000315731:p.Gly78Val		Somatic				METRNL_ENST00000570778.1_5'UTR|METRNL_ENST00000571814.1_5'UTR	p.G78V	NM_001004431.1	NP_001004431.1	WXS	Illumina GAIIx	Phase_I	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	358	+	Breast(20;0.000443)|all_neural(118;0.0779)		78					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.233G>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.970812	0.53614	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78745	-0.2084	8	.	.	.	-28.677	14.3274	0.66530	0.0:0.0:1.0:0.0	.	78	Q641Q3	METRL_HUMAN	V	78	.	.	G	+	2	0	METRNL	78636165	1.000000	0.71417	0.160000	0.22671	0.130000	0.20726	8.784000	0.91818	2.323000	0.78572	0.450000	0.29827	GGT		0.642	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		12	42	12	42	---	---	---	---	T	81042876	G	T	81042876	3	4	328	1	0	0	0	0	1	0	0	0	9489	1261	44	3	239	3	METRNL	17	81042876	Missense_Mutation	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	41447810	81042876	152334	19	11783										
TSHZ1	10194	broad.mit.edu	37	chr18	73000203	73000203	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	agccactggctggccaatgtGaagtaccagttgaggaggac	14	9	0	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr18:73000203G>A	ENST00000580243.1	+	2	3189	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	TSHZ1_ENST00000322038.5_Silent_p.V902V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	947					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCCAATGTGAAGTACCAGT	0.522																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2704-2706)gtG>gtA		teashirt zinc finger homeobox 1							71	60	64					18																	73000203		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000203G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2841G>A	18.37:g.73000203G>A			Somatic				TSHZ1_ENST00000580243.1_Silent_p.V947V	p.V902V	NM_005786.5	NP_005777.3	WXS	Illumina GAIIx	Phase_I	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3290	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	947					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2706G>A																																																																																					0.522	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	26	7	26	---	---	---	---	A	73000203	G	A	73000203	2	1	328	1	0	0	0	0	0	0	0	1	16620	1277	45	2		2	TSHZ1	18	73000203	Silent	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08		73000203	5077045	20	11784										
ZNF554	115196	broad.mit.edu	37	chr19	2833764	2833764	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gccagtggtataaatatgatAaagcttatcagagaagatgg	11	4	1	3			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:2833764A>T	ENST00000317243.5	+	5	729	c.531A>T	c.(529-531)atA>atT	p.I177I	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	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)		TAAATATGATAAAGCTTATCA	0.463																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(529-531)atA>atT		zinc finger protein 554							77	79	79					19																	2833764		1863	4109	5972	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2833764A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.531A>T	19.37:g.2833764A>T			Somatic				ZNF554_ENST00000591265.1_3'UTR	p.I177I	NM_001102651.1	NP_001096121.1	WXS	Illumina GAIIx	Phase_I	Q86TJ5	ZN554_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	729	+		Hepatocellular(1079;0.137)	177					Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.531A>T	CCDS42462.1																																																																																				0.463	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		3	58	3	58	---	---	---	---	T	2833764	A	T	2833764	2	4	328	1	0	0	0	0	0	0	0	1	17982	352	13	5		5	ZNF554	19	2833764	Silent	SNP	A	TCGA-YL-A9WJ-01A-11D-A377-08		2833764	56295219	21	11785										
SHKBP1	92799	broad.mit.edu	37	chr19	41096646	41096646	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	tgccccccagcaggtggcctGacggagcaagagctgatgga	15	12	0	3			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:41096646G>T	ENST00000291842.5	+	17	1828	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	LTBP4_ENST00000545697.1_5'Flank|LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.L568L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	593					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGCCTGACGGAGCAAG	0.662																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1777-1779)ctG>ctT		SH3KBP1 binding protein 1							57	66	63					19																	41096646		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096646G>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1779G>T	19.37:g.41096646G>T			Somatic				SHKBP1_ENST00000600733.1_Silent_p.L568L	p.L593L	NM_138392.3	NP_612401.2	WXS	Illumina GAIIx	Phase_I	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1828	+			593					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.1779G>T	CCDS12560.1																																																																																				0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	42	4	42	---	---	---	---	T	41096646	G	T	41096646	2	4	328	1	0	0	0	0	0	0	0	1	14284	1277	45	3		3	SHKBP1	19	41096646	Silent	SNP	G	TCGA-YL-A9WJ-01A-11D-A377-08	38262882	41096646	18032337	22	11786										
ARSF	416	broad.mit.edu	37	chrX	2990116	2990116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	gtgcactcttgaacacatgcCaggcacacagggtgcatgac	11	12	1	2			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:2990116C>A	ENST00000381127.1	+	3	282	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	21				CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462). {ECO:0000305}.	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)				GAACACATGCCAGGCACACAG	0.493																																						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.(61-63)Cag>Aag		arylsulfatase F							210	159	177					X																	2990116		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2990116C>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.61C>A	X.37:g.2990116C>A	ENSP00000370519:p.Gln21Lys		Somatic				ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K	p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			3	282	+		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)	21	CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462).				Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.61C>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	c	0.547	-0.851281	0.02651	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	2.46	-1.33	0.09172	.	2.298270	0.02908	U	0.136388	D	0.87822	0.6274	N	0.20574	0.59	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.79836	-0.1635	10	0.07482	T	0.82	.	2.2587	0.04061	0.165:0.3773:0.3263:0.1315	.	21	P54793	ARSF_HUMAN	K	21	ENSP00000370519:Q21K;ENSP00000445594:Q21K;ENSP00000352319:Q21K	ENSP00000352319:Q21K	Q	+	1	0	ARSF	3000116	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.958000	0.01519	0.078000	0.16900	0.415000	0.27848	CAG		0.493	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			10	12	10	12	---	---	---	---	A	2990116	C	A	2990116	3	1	328	1	0	0	0	0	1	0	0	0	991	595	21	1	67	1	ARSF	23	2990116	Missense_Mutation	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08		2990116	152280444	23	11787										
ODZ1	10178	broad.mit.edu	37	chrX	123514728	123514728	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	2	1	1.87307692307692	0	2.99692307692308	0.4	1	0	aaccgtctagtcctcccattCaacacagaagtcatctggga	7	13	4	1			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:123514728C>T	ENST00000371130.3	-	31	7899	c.7836G>A	c.(7834-7836)ttG>ttA	p.L2612L	TENM1_ENST00000422452.2_Silent_p.L2619L|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2612					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)										TCCTCCCATTCAACACAGAAG	0.522																																						ENST00000422452.2																			0											c.(7855-7857)ttG>ttA		teneurin transmembrane protein 1							103	80	88					X																	123514728		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123514728C>T	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.7836G>A	X.37:g.123514728C>T			Somatic				STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2612L	p.L2619L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					32	7920	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7857G>A	CCDS14609.1																																																																																				0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	20	15	20	---	---	---	---	T	123514728	C	T	123514728	2	4	328	1	0	0	0	0	0	0	0	1	10834	825	29	2		2	ODZ1	23	123514728	Silent	SNP	C	TCGA-YL-A9WJ-01A-11D-A377-08	120524612	123514728	31755832	24	11788										
RPRD2	23248	broad.mit.edu	37	chr1	150429782	150429782	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	aggcatataaaacctttgctAaccgagtaaacaatttaaag	6	7	0	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:150429782A>T	ENST00000369068.4	+	8	893	c.889A>T	c.(889-891)Aac>Tac	p.N297Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.N271Y	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	297						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						AACCTTTGCTAACCGAGTAAA	0.388																																						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.(811-813)Aac>Tac		regulation of nuclear pre-mRNA domain containing 2							78	74	75					1																	150429782		1842	4094	5936	SO:0001583	missense	23248						protein binding	g.chr1:150429782A>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.889A>T	1.37:g.150429782A>T	ENSP00000358064:p.Asn297Tyr		Somatic				RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.N297Y|RPRD2_ENST00000539519.1_Missense_Mutation_p.N271Y	p.N271Y			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			7	876	+			297					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.811A>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182460	0.78677	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.53206	0.65;0.63;0.68	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.87578	0.966;0.982;0.998	T	0.64428	-0.6410	10	0.87932	D	0	-14.3141	15.4834	0.75545	1.0:0.0:0.0:0.0	.	271;297;271	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	271;271;297	ENSP00000383785:N271Y;ENSP00000445482:N271Y;ENSP00000358064:N297Y	ENSP00000358064:N297Y	N	+	1	0	RPRD2	148696406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.507000	0.90522	2.291000	0.77112	0.519000	0.50382	AAC		0.388	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		10	49	10	49	---	---	---	---	T	150429782	A	T	150429782	3	4	329	1	0	0	0	0	1	0	0	0	13617	362	13	5	919	5	RPRD2	1	150429782	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		150429782	98820839	1	11789										
ASH1L	55870	broad.mit.edu	37	chr1	155348170	155348170	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ccagaaaggggtttgacatcAacgtagacatcttgaaaaga	10	7	2	5			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:155348170A>T	ENST00000368346.3	-	10	6888	c.6249T>A	c.(6247-6249)gtT>gtA	p.V2083V	ASH1L_ENST00000392403.3_Silent_p.V2078V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2083	Catalytic domain.				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)			GTTTGACATCAACGTAGACAT	0.413																																						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.(6247-6249)gtT>gtA		ash1 (absent, small, or homeotic)-like (Drosophila)							150	146	147					1																	155348170		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.chr1:155348170A>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.6249T>A	1.37:g.155348170A>T			Somatic				ASH1L_ENST00000392403.3_Silent_p.V2078V	p.V2083V			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		10	6888	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2083					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.6249T>A																																																																																					0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		23	110	23	110	---	---	---	---	T	155348170	A	T	155348170	2	4	329	1	0	0	0	0	0	0	0	1	1041	117	5	5		5	ASH1L	1	155348170	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	4918388	155348170	93902451	2	11790										
MIA3	375056	broad.mit.edu	37	chr1	222838751	222838751	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	cctcggggatttttacctggAcacgcaccatttagaccttt	8	12	0	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr1:222838751A>T	ENST00000344922.5	+	28	5539	c.5514A>T	c.(5512-5514)ggA>ggT	p.G1838G	AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Silent_p.G716G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1838	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)		TTTTACCTGGACACGCACCAT	0.547																																						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.(5512-5514)ggA>ggT		melanoma inhibitory activity family, member 3							220	223	222					1																	222838751		1908	4120	6028	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.chr1:222838751A>T		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.5514A>T	1.37:g.222838751A>T			Somatic				MIA3_ENST00000340535.7_Silent_p.G716G|MIA3_ENST00000344441.6_Silent_p.G1838G|MIA3_ENST00000344507.1_Intron	p.G1838G	NM_198551.2	NP_940953.2	WXS	Illumina GAIIx	Phase_I	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5539	+			1838			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5514A>T	CCDS41470.1																																																																																				0.547	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		17	301	17	301	---	---	---	---	T	222838751	A	T	222838751	2	4	329	1	0	0	0	0	0	0	0	1	9565	262	10	5		5	MIA3	1	222838751	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	67490581	222838751	26411870	3	11791										
NDUFB5	4711	broad.mit.edu	37	chr3	179341804	179341804	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	aaggaacttattgatcattcTccgaaagcaactcctgacaa	6	10	2	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr3:179341804T>A	ENST00000259037.3	+	6	660	c.546T>A	c.(544-546)tcT>tcA	p.S182S	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000493866.1_Silent_p.S130S	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	182					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	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)			TTGATCATTCTCCGAAAGCAA	0.333																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(388-390)tcT>tcA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						140	133	136					3																	179341804		2203	4300	6503	SO:0001819	synonymous_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179341804T>A	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.546T>A	3.37:g.179341804T>A			Somatic				NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.S170S|NDUFB5_ENST00000259037.3_Silent_p.S182S	p.S130S	NM_001199957.1	NP_001186886.1	WXS	Illumina GAIIx	Phase_I	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		4	415	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		182					Q561V6	Silent	SNP	ENST00000259037.3	37	c.390T>A	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	T	1.708	-0.499766	0.04291	.	.	ENSG00000136521	ENST00000482604	.	.	.	5.17	2.66	0.31614	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42396	-0.9454	4	.	.	.	-8.9792	5.7745	0.18271	0.3172:0.0:0.145:0.5378	.	.	.	.	H	199	.	.	L	+	2	0	NDUFB5	180824498	0.304000	0.24472	1.000000	0.80357	0.101000	0.19017	0.469000	0.22067	0.248000	0.21435	0.523000	0.50628	CTC		0.333	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		7	129	7	129	---	---	---	---	A	179341804	T	A	179341804	2	1	329	1	0	0	0	0	0	0	0	1	10284	1538	54	5		5	NDUFB5	3	179341804	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		179341804	18680626	4	11792										
EXOC4	60412	broad.mit.edu	37	chr7	132937913	132937914	+	Frame_Shift_Ins	INS	-	-	C													0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	acagtcagcaaaagcaaagaINScccctcggggctgctcatct					rs560096370	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr7:132937913_132937914insC	ENST00000253861.4	+	1	85_86	c.56_57insC	c.(55-60)gaccccfs	p.DP19fs	EXOC4_ENST00000539845.1_5'Flank|EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	19					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)				AAAAGCAAAGACCCCTCGGGGC	0.624																																						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.(55-60)gaccccfs		exocyst complex component 4																																				SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132937913_132937914insC	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.60dupC	7.37:g.132937917_132937917dupC	ENSP00000253861:p.Asp19fs		Somatic				EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.DP19fs	p.DP19fs	NM_021807.3	NP_068579.3	WXS	Illumina GAIIx	Phase_I	Q96A65	EXOC4_HUMAN			1	85_86	+		Esophageal squamous(399;0.129)	19					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Ins	INS	ENST00000253861.4	37	c.56_57insC	CCDS5829.1																																																																																				0.624	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		15	64	15	64	---	---	---	---	C	132937914	-	C	132937913	7	5	329	1	0	1	1	0	0	0	0	0	5306	275	10	0	58	0	EXOC4	7	132937913	Frame_Shift_Ins	INS	-	TCGA-ZG-A8QW-01A-11D-A377-08		132937913	26200750	5	11793										
TNFRSF10B	8795	broad.mit.edu	37	chr8	22886093	22886093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ccagggtgtacaatcaccgaCcttgaccatccctctgggac	9	15	2	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:22886093C>T	ENST00000276431.4	-	5	783	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	167					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)		CAATCACCGACCTTGACCATC	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.(499-501)Gtc>Atc		tumor necrosis factor receptor superfamily, member 10b							136	120	125					8																	22886093		2203	4300	6503	SO:0001583	missense	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.chr8:22886093C>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.499G>A	8.37:g.22886093C>T	ENSP00000276431:p.Val167Ile		Somatic				TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.V16I|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.V167I|TNFRSF10B_ENST00000519910.1_5'UTR	p.V167I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	WXS	Illumina GAIIx	Phase_I	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	5	783	-		Prostate(55;0.0421)|Breast(100;0.067)	167					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	c.499G>A	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476713	0.44044	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.38077	1.16;1.16;1.16	4.41	0.218	0.15270	TNFR/CD27/30/40/95 cysteine-rich region (3);	.	.	.	.	T	0.38825	0.1055	L	0.49126	1.545	0.09310	N	1	D;P;P;P	0.67145	0.996;0.633;0.633;0.595	P;B;B;B	0.58266	0.836;0.24;0.171;0.343	T	0.20140	-1.0284	9	0.29301	T	0.29	.	1.8611	0.03189	0.1586:0.4935:0.1549:0.193	.	16;167;167;167	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	I	167;167;16	ENSP00000276431:V167I;ENSP00000317859:V167I;ENSP00000443386:V16I	ENSP00000276431:V167I	V	-	1	0	TNFRSF10B	22942038	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.085000	0.03390	-0.029000	0.13827	0.563000	0.77884	GTC		0.567	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		5	88	5	88	---	---	---	---	T	22886093	C	T	22886093	3	4	329	1	0	0	0	0	1	0	0	0	16278	507	18	2	843	2	TNFRSF10B	8	22886093	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		22886093	123477929	6	11794										
ZFAT	57623	broad.mit.edu	37	chr8	135524840	135524840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gctcctcaggagcttctgttGctgtctaaataaaaacatag	8	9	3	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr8:135524840G>A	ENST00000377838.3	-	14	3413	c.3239C>T	c.(3238-3240)gCa>gTa	p.A1080V	ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520727.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1080					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)			AGCTTCTGTTGCTGTCTAAAT	0.473																																						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.(3202-3204)gCa>gTa		zinc finger and AT hook domain containing							108	112	110					8																	135524840		1925	4127	6052	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524840G>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.3239C>T	8.37:g.135524840G>A	ENSP00000367069:p.Ala1080Val		Somatic				ZFAT_ENST00000429442.2_Missense_Mutation_p.A1068V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A1068V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A1018V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A1080V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000517307.1_5'UTR	p.A1068V	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3502	-	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)		1080					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3203C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613738	0.46631	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.09350	3.0;3.01;2.99;3.0;3.01	4.8	4.8	0.61643	.	0.600840	0.17789	N	0.161941	T	0.06142	0.0159	N	0.12182	0.205	0.26180	N	0.979743	P;B;B	0.35077	0.483;0.003;0.003	B;B;B	0.27887	0.084;0.006;0.004	T	0.34378	-0.9831	10	0.19590	T	0.45	-2.912	15.5236	0.75885	0.0:0.0:1.0:0.0	.	199;1018;1080	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	V	1068;1068;1080;1068;967;1018	ENSP00000427831:A1068V;ENSP00000394501:A1068V;ENSP00000367069:A1080V;ENSP00000428483:A1068V;ENSP00000429091:A1018V	ENSP00000326997:A967V	A	-	2	0	ZFAT	135594022	0.966000	0.33281	0.998000	0.56505	0.981000	0.71138	2.556000	0.45862	2.648000	0.89879	0.563000	0.77884	GCA		0.473	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		6	99	6	99	---	---	---	---	A	135524840	G	A	135524840	3	1	329	1	0	0	0	0	1	0	0	0	17629	1319	46	2	504	2	ZFAT	8	135524840	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	112638747	135524840	10839182	7	11795										
PAX5	5079	broad.mit.edu	37	chr9	37015117	37015117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	tatattcagcgattttttccAccactttgggtgtggcgacc	9	10	1	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr9:37015117A>G	ENST00000358127.4	-	3	361	c.287T>C	c.(286-288)gTg>gCg	p.V96A	PAX5_ENST00000523241.1_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	96	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				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.?(42)	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)		GATTTTTTCCACCACTTTGGG	0.502			"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)	42	Unknown(42)	p.?(42)	haematopoietic_and_lymphoid_tissue(42)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(286-288)gTg>gCg		paired box 5							259	254	256					9																	37015117		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.chr9:37015117A>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.287T>C	9.37:g.37015117A>G	ENSP00000350844:p.Val96Ala		Somatic				PAX5_ENST00000414447.1_Missense_Mutation_p.V96A|PAX5_ENST00000377853.2_Missense_Mutation_p.V96A|PAX5_ENST00000377847.2_Missense_Mutation_p.V96A|PAX5_ENST00000520281.1_Missense_Mutation_p.V96A|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Missense_Mutation_p.V96A|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.V96A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.V96A	p.V96A	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	WXS	Illumina GAIIx	Phase_I	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	361	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	96			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.287T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823914	0.90873	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.135690	0.48767	D	0.000178	D	0.99513	0.9826	M	0.91300	3.195	0.80722	D	1	P;D;P;D;D;P;P;P	0.89917	0.955;0.998;0.955;1.0;0.997;0.955;0.955;0.955	D;D;D;D;D;D;D;D	0.81914	0.965;0.995;0.965;0.995;0.992;0.965;0.965;0.965	D	0.98438	1.0585	10	0.56958	D	0.05	.	15.9657	0.79968	1.0:0.0:0.0:0.0	.	96;96;96;96;96;96;96;96	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	A	96	ENSP00000350844:V96A;ENSP00000367084:V96A;ENSP00000367083:V96A;ENSP00000429637:V96A;ENSP00000429291:V96A;ENSP00000430773:V96A;ENSP00000412188:V96A;ENSP00000367078:V96A	ENSP00000350844:V96A	V	-	2	0	PAX5	37005117	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.172000	0.68678	0.529000	0.55759	GTG		0.502	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			30	202	30	202	---	---	---	---	G	37015117	A	G	37015117	3	3	329	1	0	0	0	0	1	0	0	0	11482	159	6	2	920	2	PAX5	9	37015117	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		37015117	104198314	8	11796										
HSPA14	51182	broad.mit.edu	37	chr10	14909224	14909224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	tatagaagcaggaattcttaTtgggaaagaaaacctgttgg	11	4	1	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:14909224T>C	ENST00000378372.3	+	11	1375	c.1136T>C	c.(1135-1137)aTt>aCt	p.I379T		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	379					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATTCTTATTGGGAAAGAA	0.383																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1135-1137)aTt>aCt		heat shock 70kDa protein 14							107	108	108					10																	14909224		2203	4300	6503	SO:0001583	missense	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909224T>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1136T>C	10.37:g.14909224T>C	ENSP00000367623:p.Ile379Thr		Somatic					p.I379T	NM_016299.2	NP_057383.2	WXS	Illumina GAIIx	Phase_I	Q0VDF9	HSP7E_HUMAN			11	1375	+			379					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	ENST00000378372.3	37	c.1136T>C	CCDS7103.1	.	.	.	.	.	.	.	.	.	.	T	7.978	0.750479	0.15778	.	.	ENSG00000187522	ENST00000378372	T	0.00902	5.56	5.8	2.21	0.28008	.	0.427481	0.27240	N	0.020271	T	0.00384	0.0012	N	0.00885	-1.115	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48747	-0.9008	10	0.02654	T	1	-11.1193	9.7772	0.40626	0.0:0.1954:0.0:0.8046	.	379	Q0VDF9	HSP7E_HUMAN	T	379	ENSP00000367623:I379T	ENSP00000367623:I379T	I	+	2	0	HSPA14	14949230	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	2.222000	0.42926	0.123000	0.18342	-0.274000	0.10170	ATT		0.383	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		10	106	10	106	---	---	---	---	C	14909224	T	C	14909224	3	2	329	1	0	0	0	0	1	0	0	0	7407	1493	52	2	1178	2	HSPA14	10	14909224	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		14909224	120625523	9	11797										
NDST2	8509	broad.mit.edu	37	chr10	75567743	75567743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	tctcataaatgaccaagacaTagcggccatgggtattatca	8	9	2	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr10:75567743T>C	ENST00000309979.6	-	3	960	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	NDST2_ENST00000398701.2_5'Flank|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Y135C|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	135	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)					GACCAAGACATAGCGGCCATG	0.522																																						ENST00000603027.1																			0											c.(403-405)tAt>tGt									111	107	108					10																	75567743		2203	4300	6503	SO:0001583	missense	8509							g.chr10:75567743T>C	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.404A>G	10.37:g.75567743T>C	ENSP00000310657:p.Tyr135Cys		Somatic				NDST2_ENST00000309979.6_Missense_Mutation_p.Y135C|NDST2_ENST00000299641.4_Missense_Mutation_p.Y12C	p.Y135C			WXS	Illumina GAIIx	Phase_I					3	1027	-			135					Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.404A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968066	0.53614	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.56275	0.71;0.47	5.67	4.52	0.55395	.	0.055766	0.85682	D	0.000000	T	0.72574	0.3477	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72075	0.974;0.976	T	0.75972	-0.3129	10	0.87932	D	0	.	12.075	0.53638	0.1291:0.0:0.0:0.8709	.	12;135	B4E139;P52849	.;NDST2_HUMAN	C	135;12	ENSP00000310657:Y135C;ENSP00000299641:Y12C	ENSP00000299641:Y12C	Y	-	2	0	NDST2	75237749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.394000	0.52551	0.954000	0.37851	0.459000	0.35465	TAT		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		11	62	11	62	---	---	---	---	C	75567743	T	C	75567743	3	2	329	1	0	0	0	0	1	0	0	0	10256	1406	49	2	2299	2	NDST2	10	75567743	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	60658519	75567743	59967004	10	11798										
PRMT3	10196	broad.mit.edu	37	chr11	20515515	20515515	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gagaagaattgccacaacagGgtaagtatcatgaattatct	9	6	2	3			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:20515515G>T	ENST00000331079.6	+	14	1615	c.1398G>T	c.(1396-1398)agG>agT	p.R466S	PRMT3_ENST00000437750.2_Splice_Site_p.R404S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	466	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						GCCACAACAGGGTAAGTATCA	0.279																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1396-1398)agG>agT		protein arginine methyltransferase 3							35	40	38					11																	20515515		2183	4286	6469	SO:0001630	splice_region_variant	10196						zinc ion binding	g.chr11:20515515G>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.1398+1G>T	11.37:g.20515515G>T			Somatic				PRMT3_ENST00000437750.2_Splice_Site_p.R404S	p.R466S	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	WXS	Illumina GAIIx	Phase_I	O60678	ANM3_HUMAN			14	1615	+			466					B4DUC7	Splice_Site	SNP	ENST00000331079.6	37	c.1398G>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	5.336	0.247237	0.10130	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.80909	-1.43;-1.43	5.52	0.888	0.19206	.	0.356432	0.39341	N	0.001389	T	0.68860	0.3047	L	0.45698	1.435	0.30498	N	0.770709	B;B	0.06786	0.001;0.001	B;B	0.10450	0.004;0.005	T	0.57556	-0.7791	10	0.22706	T	0.39	-4.5633	7.1895	0.25818	0.2813:0.0:0.5981:0.1206	.	404;466	O60678-2;O60678	.;ANM3_HUMAN	S	466;466;404	ENSP00000331879:R466S;ENSP00000397766:R404S	ENSP00000331879:R466S	R	+	3	2	PRMT3	20472091	0.989000	0.36119	0.970000	0.41538	0.984000	0.73092	0.713000	0.25794	0.274000	0.22072	0.591000	0.81541	AGG		0.279	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	Missense_Mutation	16	111	16	111	---	---	---	---	T	20515515	G	T	20515515	5	4	329	1	0	0	0	0	0	0	1	0	12538	1246	43	1	1452	1	PRMT3	11	20515515	Splice_Site	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		20515515	114491001	11	11799										
GRIA4	2893	broad.mit.edu	37	chr11	105797470	105797470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	attttatccatgtttagatcCctctcaggtcgaattgttgg	8	8	1	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr11:105797470C>T	ENST00000530497.1	+	12	1851	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S|GRIA4_ENST00000393127.2_Silent_p.S617S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	617					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)		tgtttagaTCCCTCTCAGGTC	0.363																																						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.(1849-1851)tcC>tcT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						118	118	118					11																	105797470		2202	4298	6500	SO:0001819	synonymous_variant	2893				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.chr11:105797470C>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.1851C>T	11.37:g.105797470C>T			Somatic				GRIA4_ENST00000282499.5_Silent_p.S617S|GRIA4_ENST00000530497.1_Silent_p.S617S|GRIA4_ENST00000525187.1_Silent_p.S617S	p.S617S	NM_001077243.2	NP_001070711	WXS	Illumina GAIIx	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2297	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	617					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1851C>T	CCDS8333.1																																																																																				0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	109	8	109	---	---	---	---	T	105797470	C	T	105797470	2	4	329	1	0	0	0	0	0	0	0	1	6770	610	22	2		2	GRIA4	11	105797470	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	85281955	105797470	29209046	12	11800										
SLC6A15	55117	broad.mit.edu	37	chr12	85270287	85270287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ggtacataccttaggggtaaAcatgtggcgaatgccatcaa	11	8	1	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr12:85270287A>G	ENST00000266682.5	-	6	1397	c.856T>C	c.(856-858)Ttt>Ctt	p.F286L	SLC6A15_ENST00000551388.1_5'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	286					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						TTAGGGGTAAACATGTGGCGA	0.299																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(856-858)Ttt>Ctt		solute carrier family 6 (neutral amino acid transporter), member 15							78	77	78					12																	85270287		2203	4296	6499	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.chr12:85270287A>G	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.856T>C	12.37:g.85270287A>G	ENSP00000266682:p.Phe286Leu		Somatic				SLC6A15_ENST00000552192.1_Missense_Mutation_p.F179L|SLC6A15_ENST00000551388.1_5'UTR	p.F286L	NM_182767.5	NP_877499.1	WXS	Illumina GAIIx	Phase_I	Q9H2J7	S6A15_HUMAN			6	1397	-			286					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.856T>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966207	0.34659	.	.	ENSG00000072041	ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551388;ENST00000551612	T;T;T	0.68765	-0.35;-0.35;-0.35	5.97	5.97	0.96955	.	0.045701	0.85682	D	0.000000	T	0.51058	0.1652	N	0.19112	0.55	0.80722	D	1	B	0.21381	0.055	B	0.30646	0.118	T	0.46748	-0.9169	10	0.09338	T	0.73	.	12.2812	0.54765	0.9324:0.0:0.0676:0.0	.	286	Q9H2J7	S6A15_HUMAN	L	286;2;179;2;2	ENSP00000266682:F286L;ENSP00000450145:F179L;ENSP00000449263:F2L	ENSP00000266682:F286L	F	-	1	0	SLC6A15	83794418	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.137000	0.77295	2.281000	0.76405	0.533000	0.62120	TTT		0.299	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	66	5	66	---	---	---	---	G	85270287	A	G	85270287	3	3	329	1	0	0	0	0	1	0	0	0	14678	43	2	2	1364	2	SLC6A15	12	85270287	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		85270287	48581608	13	11801										
HSPH1	10808	broad.mit.edu	37	chr13	31727071	31727071	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	acagatcgcctctcagcatcTgtaaagaaggaggggaccta	11	10	2	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:31727071T>G	ENST00000320027.5	-	5	791	c.447A>C	c.(445-447)acA>acC	p.T149T	HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T|HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	149					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)		TCTCAGCATCTGTAAAGAAGG	0.358																																						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.(445-447)acA>acC		heat shock 105kDa/110kDa protein 1							151	148	149					13																	31727071		2203	4299	6502	SO:0001819	synonymous_variant	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.chr13:31727071T>G	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.447A>C	13.37:g.31727071T>G			Somatic				HSPH1_ENST00000445273.2_Silent_p.T151T|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.T108T|HSPH1_ENST00000380405.4_Silent_p.T149T	p.T149T	NM_006644.2	NP_006635.2	WXS	Illumina GAIIx	Phase_I	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)	5	791	-		Lung SC(185;0.0257)	149					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.447A>C	CCDS9340.1																																																																																				0.358	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			53	182	53	182	---	---	---	---	G	31727071	T	G	31727071	2	3	329	1	0	0	0	0	0	0	0	1	7431	1567	55	5		5	HSPH1	13	31727071	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		31727071	83442807	14	11802										
RFXAP	5994	broad.mit.edu	37	chr13	37399674	37399674	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gttaaatcaaaaaagactggTaaatatctgtttgtaaatca	6	4	3	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:37399674T>C	ENST00000255476.2	+	2	842		c.e2+2		RFXAP_ENST00000472888.1_Splice_Site	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein						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)		AAAAGACTGGTAAATATCTGT	0.313																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.e2+2		regulatory factor X-associated protein							70	74	73					13																	37399674		2203	4298	6501	SO:0001630	splice_region_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399674T>C	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.708+2T>C	13.37:g.37399674T>C			Somatic				RFXAP_ENST00000472888.1_Splice_Site		NM_000538.3	NP_000529.1	WXS	Illumina GAIIx	Phase_I	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)	2	842	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B2R9T8|Q5VZM6|Q8TC40	Splice_Site	SNP	ENST00000255476.2	37		CCDS9359.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.886292	0.72410	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7229	0.69320	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RFXAP	36297674	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	6.854000	0.75440	2.154000	0.67381	0.533000	0.62120	.		0.313	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538	Intron	11	47	11	47	---	---	---	---	C	37399674	T	C	37399674	5	2	329	1	0	0	0	0	0	0	1	0	13270	1652	57	2	716	2	RFXAP	13	37399674	Splice_Site	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	5672603	37399674	77770204	15	11803										
KDELC1	79070	broad.mit.edu	37	chr13	103445972	103445972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ttgttatcctttaaggtgtaGtgacataggctctgcctctg	10	8	2	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:103445972G>C	ENST00000376004.4	-	3	909	c.573C>G	c.(571-573)caC>caG	p.H191Q	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	191						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)					TTAAGGTGTAGTGACATAGGC	0.368																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(571-573)caC>caG		KDEL (Lys-Asp-Glu-Leu) containing 1							134	128	130					13																	103445972		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103445972G>C	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.573C>G	13.37:g.103445972G>C	ENSP00000365172:p.His191Gln		Somatic				KDELC1_ENST00000460338.1_5'UTR	p.H191Q	NM_024089.2	NP_076994.2	WXS	Illumina GAIIx	Phase_I	Q6UW63	KDEL1_HUMAN			3	909	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		191					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.573C>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611364	0.46631	.	.	ENSG00000134901	ENST00000376004	T	0.23348	1.91	5.7	1.84	0.25277	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.90019	3.08	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.55958	-0.8058	10	0.72032	D	0.01	.	9.3259	0.37993	0.5209:0.0:0.4791:0.0	.	191	Q6UW63	KDEL1_HUMAN	Q	191	ENSP00000365172:H191Q	ENSP00000365172:H191Q	H	-	3	2	KDELC1	102243973	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	1.274000	0.33132	0.269000	0.21961	-0.258000	0.10820	CAC		0.368	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			24	105	24	105	---	---	---	---	C	103445972	G	C	103445972	3	2	329	1	0	0	0	0	1	0	0	0	8117	1020	36	4	967	4	KDELC1	13	103445972	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	66046298	103445972	11723906	16	11804										
CUL4A	8451	broad.mit.edu	37	chr13	113899533	113899533	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	atggagctttcgaaggacatCatggttcatttcaagcaggt	11	7	3	0	rs141571594		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr13:113899533C>T	ENST00000375440.4	+	14	1596	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I|CUL4A_ENST00000451881.1_Silent_p.I404I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	504					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)			CGAAGGACATCATGGTTCATT	0.488																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(1210-1212)atC>atT		cullin 4A							134	116	122					13																	113899533		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.chr13:113899533C>T	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.1512C>T	13.37:g.113899533C>T			Somatic				CUL4A_ENST00000375440.4_Silent_p.I504I|CUL4A_ENST00000326335.4_Silent_p.I404I|CUL4A_ENST00000375441.3_Silent_p.I404I	p.I404I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	WXS	Illumina GAIIx	Phase_I	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		14	1461	+	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)	504					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.1212C>T	CCDS41908.1																																																																																				0.488	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	54	3	54	---	---	---	---	T	113899533	C	T	113899533	2	4	329	1	0	0	0	0	0	0	0	1	4057	816	29	2		2	CUL4A	13	113899533	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	10453561	113899533	1270345	17	11805										
KIAA1409	57578	broad.mit.edu	37	chr14	94053216	94053216	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gccagaaaagatcaccctcaAtttttagcctacattcagga	6	11	3	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:94053216A>T	ENST00000393151.2	+	22	2994	c.2994A>T	c.(2992-2994)caA>caT	p.Q998H	UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q998H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	998					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						ATCACCCTCAATTTTTAGCCT	0.353																																						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.(2992-2994)caA>caT		unc-79 homolog (C. elegans)							178	168	171					14																	94053216		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94053216A>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.2994A>T	14.37:g.94053216A>T	ENSP00000376858:p.Gln998His		Somatic				UNC79_ENST00000256339.4_Missense_Mutation_p.Q821H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q998H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q998H	p.Q998H			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			22	3148	+			998					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2994A>T		.	.	.	.	.	.	.	.	.	.	A	16.94	3.260731	0.59431	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.94	2.33	0.28932	.	0.233082	0.37955	N	0.001862	T	0.19327	0.0464	N	0.08118	0	0.31131	N	0.707758	P	0.48016	0.904	P	0.47981	0.563	T	0.11036	-1.0604	10	0.62326	D	0.03	-14.9349	7.9477	0.29995	0.5901:0.0:0.4099:0.0	.	998	C9JQL1	.	H	821;998;998;998;998	ENSP00000256339:Q821H;ENSP00000450868:Q998H;ENSP00000451360:Q998H;ENSP00000376858:Q998H	ENSP00000256339:Q821H	Q	+	3	2	KIAA1409	93122969	0.952000	0.32445	1.000000	0.80357	0.976000	0.68499	0.049000	0.14099	0.508000	0.28173	-0.256000	0.11100	CAA		0.353	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		33	141	33	141	---	---	---	---	T	94053216	A	T	94053216	3	4	329	1	0	0	0	0	1	0	0	0	8230	98	4	5	2537	5	KIAA1409	14	94053216	Missense_Mutation	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08		94053216	13296324	18	11806										
ZNF839	55778	broad.mit.edu	37	chr14	102793195	102793195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gaggggcccgctcctgcttgGtgacagagtcagcacgcggt	16	12	1	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr14:102793195G>A	ENST00000558850.1	+	2	1164	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M|ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000262236.5_Missense_Mutation_p.V272M	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	272							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCCTGCTTGGTGACAGAGTC	0.577																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(814-816)Gtg>Atg		zinc finger protein 839							18	20	19					14																	102793195		2016	4154	6170	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102793195G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.814G>A	14.37:g.102793195G>A	ENSP00000453363:p.Val272Met		Somatic				ZNF839_ENST00000559185.1_Missense_Mutation_p.V272M|ZNF839_ENST00000558850.1_Missense_Mutation_p.V272M|ZNF839_ENST00000442396.2_Missense_Mutation_p.V388M	p.V272M	NM_018335.4	NP_060805.3	WXS	Illumina GAIIx	Phase_I	A8K0R7	ZN839_HUMAN			2	1169	+			272					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.814G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	8.158	0.788787	0.16258	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.42513	0.97;0.97	1.73	1.73	0.24493	.	.	.	.	.	T	0.22513	0.0543	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.49253	0.921;0.706;0.921;0.921	B;B;B;B	0.36534	0.227;0.094;0.153;0.153	T	0.06972	-1.0797	9	0.41790	T	0.15	.	7.3658	0.26772	0.0:0.0:1.0:0.0	.	388;272;151;272	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	M	388;272;15	ENSP00000399863:V388M;ENSP00000262236:V272M	ENSP00000262236:V272M	V	+	1	0	ZNF839	101862948	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	1.678000	0.37586	0.867000	0.35654	0.655000	0.94253	GTG		0.577	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	14	4	14	---	---	---	---	A	102793195	G	A	102793195	3	1	329	1	0	0	0	0	1	0	0	0	18185	1261	44	2	1168	2	ZNF839	14	102793195	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	8739979	102793195	4556345	19	11807										
C15orf2	23742	broad.mit.edu	37	chr15	24923886	24923886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	catatactgcattgggcacaCctgttaatgctgagccagtc	9	11	0	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:24923886C>A	ENST00000329468.2	+	1	3346	c.2872C>A	c.(2872-2874)Cct>Act	p.P958T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	958					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATTGGGCACACCTGTTAATGC	0.483																																						ENST00000329468.2																			0											c.(2872-2874)Cct>Act		nuclear pore associated protein 1							75	76	76					15																	24923886		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923886C>A	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.2872C>A	15.37:g.24923886C>A	ENSP00000333735:p.Pro958Thr		Somatic					p.P958T	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	3346	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2872C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.319478	0.00232	.	.	ENSG00000185823	ENST00000329468	T	0.07567	3.18	1.74	-0.812	0.10853	.	0.637195	0.13080	N	0.415389	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.35968	-0.9767	10	0.44086	T	0.13	.	3.0704	0.06229	0.3618:0.4021:0.2361:0.0	.	958	Q9NZP6	CO002_HUMAN	T	958	ENSP00000333735:P958T	ENSP00000333735:P958T	P	+	1	0	C15orf2	22474979	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.009000	0.13219	-0.202000	0.10268	0.313000	0.20887	CCT		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	92	15	92	---	---	---	---	A	24923886	C	A	24923886	3	1	329	1	0	0	0	0	1	0	0	0	1784	507	18	3	2874	3	C15orf2	15	24923886	Missense_Mutation	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		24923886	77607506	20	11808										
WDR72	256764	broad.mit.edu	37	chr15	53907788	53907788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gaagagtggctgtgtatttaTctgacaagtccaaaactttc	9	7	1	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:53907788T>C	ENST00000396328.1	-	15	2854	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G	WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	872										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)		TGTGTATTTATCTGACAAGTC	0.353																																						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.(2614-2616)gAt>gGt		WD repeat domain 72							53	54	54					15																	53907788		2193	4291	6484	SO:0001583	missense	256764							g.chr15:53907788T>C	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.2615A>G	15.37:g.53907788T>C	ENSP00000379619:p.Asp872Gly		Somatic				WDR72_ENST00000360509.5_Missense_Mutation_p.D872G|WDR72_ENST00000557913.1_Missense_Mutation_p.D869G|WDR72_ENST00000559418.1_Missense_Mutation_p.D882G	p.D872G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	WXS	Illumina GAIIx	Phase_I	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2854	-			872					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2615A>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584570	0.28268	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34667	1.35;1.35	5.72	-0.933	0.10431	.	0.506080	0.20811	N	0.085245	T	0.16300	0.0392	N	0.14661	0.345	0.20638	N	0.999872	B	0.06786	0.001	B	0.06405	0.002	T	0.13124	-1.0521	10	0.28530	T	0.3	.	5.5077	0.16864	0.0:0.2663:0.2468:0.4869	.	872	Q3MJ13	WDR72_HUMAN	G	872	ENSP00000379619:D872G;ENSP00000353699:D872G	ENSP00000353699:D872G	D	-	2	0	WDR72	51695080	0.975000	0.34042	0.392000	0.26245	0.744000	0.42396	0.146000	0.16180	-0.420000	0.07427	-0.256000	0.11100	GAT		0.353	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		4	90	4	90	---	---	---	---	C	53907788	T	C	53907788	3	2	329	1	0	0	0	0	1	0	0	0	17319	1435	50	2	717	2	WDR72	15	53907788	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	28983902	53907788	48623604	21	11809										
RASL12	51285	broad.mit.edu	37	chr15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ggggctcttctccagctcccGccgtgcctctcgcactgcct	10	19	3	0	rs148588039	byFrequency	TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr15:65347485G>A	ENST00000220062.4	-	5	829	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	185					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TCCAGCTCCCGCCGTGCCTCT	0.662																																						ENST00000220062.4																			0				lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(553-555)Cgg>Tgg		RAS-like, family 12							20	18	18					15																	65347485		2201	4293	6494	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347485G>A	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.553C>T	15.37:g.65347485G>A	ENSP00000220062:p.Arg185Trp		Somatic				RASL12_ENST00000434605.2_Missense_Mutation_p.R174W|RASL12_ENST00000421977.3_Missense_Mutation_p.R166W	p.R185W	NM_016563.2	NP_057647.1	WXS	Illumina GAIIx	Phase_I	Q9NYN1	RASLC_HUMAN			5	829	-			185					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.553C>T	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967777	0.53507	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80214	-1.35;-1.35;-1.35	5.38	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.92507	3.315	0.48830	D	0.999717	P;P;P	0.40619	0.724;0.622;0.622	B;B;B	0.31751	0.135;0.052;0.052	D	0.87541	0.2459	10	0.87932	D	0	.	14.1547	0.65410	0.0:0.0:0.8185:0.1815	.	174;166;185	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	W	185;166;174	ENSP00000220062:R185W;ENSP00000390028:R166W;ENSP00000412787:R174W	ENSP00000220062:R185W	R	-	1	2	RASL12	63134538	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.547000	0.36190	2.526000	0.85167	0.505000	0.49811	CGG		0.662	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		3	16	3	16	---	---	---	---	A	65347485	G	A	65347485	3	1	329	1	0	0	0	0	1	0	0	0	13083	1086	38	2	251	2	RASL12	15	65347485	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	11439697	65347485	37183907	22	11810										
TPSAB1	7177	broad.mit.edu	37	chr16	1291297	1291297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ccctcatccacccccagtggGtgctgaccgcagcgcactgc	10	19	1	1			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:1291297G>T	ENST00000338844.3	+	3	238	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	TPSAB1_ENST00000461509.2_Missense_Mutation_p.V76L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	69	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)				CCCCCAGTGGGTGCTGACCGC	0.706																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(226-228)Gtg>Ttg		tryptase alpha/beta 1							45	44	44					16																	1291297		2198	4296	6494	SO:0001583	missense	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291297G>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.205G>T	16.37:g.1291297G>T	ENSP00000343577:p.Val69Leu		Somatic				TPSAB1_ENST00000338844.3_Missense_Mutation_p.V69L	p.V76L			WXS	Illumina GAIIx	Phase_I	P20231	TRYB2_HUMAN			2	420	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.226G>T	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064697	0.55432	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.89617	-2.54;-2.54	3.9	3.9	0.45041	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.162254	0.28908	N	0.013742	D	0.90048	0.6892	L	0.55103	1.725	0.48830	D	0.999715	D;D	0.54601	0.959;0.967	P;P	0.58454	0.752;0.839	D	0.89930	0.4065	10	0.87932	D	0	.	7.8613	0.29511	0.1179:0.0:0.8821:0.0	.	69;69	Q15661-2;Q15661	.;TRYB1_HUMAN	L	69;76	ENSP00000343577:V69L;ENSP00000418247:V76L	ENSP00000343577:V69L	V	+	1	0	TPSAB1	1231298	0.995000	0.38212	1.000000	0.80357	0.892000	0.51952	0.384000	0.20668	1.905000	0.55150	0.479000	0.44913	GTG		0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		8	65	8	65	---	---	---	---	T	1291297	G	T	1291297	3	4	329	1	0	0	0	0	1	0	0	0	16420	1261	44	3	211	3	TPSAB1	16	1291297	Missense_Mutation	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08		1291297	89063456	23	11811										
GLYR1	84656	broad.mit.edu	37	chr16	4873833	4873833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gctccttacctcgcttgcggTtggctgccatttaaacgcgg	11	13	0	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr16:4873833T>C	ENST00000321919.9	-	6	689	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	205					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCGCTTGCGGTTGGCTGCCAT	0.532																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(613-615)Acc>Gcc		glyoxylate reductase 1 homolog (Arabidopsis)							152	148	149					16																	4873833		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873833T>C	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.613A>G	16.37:g.4873833T>C	ENSP00000322716:p.Thr205Ala		Somatic				GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.T124A|GLYR1_ENST00000591451.1_Missense_Mutation_p.T205A|GLYR1_ENST00000381983.3_Missense_Mutation_p.T205A	p.T205A	NM_032569.3	NP_115958	WXS	Illumina GAIIx	Phase_I	Q49A26	GLYR1_HUMAN			6	689	-			205					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.613A>G	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	T	8.089	0.774013	0.16051	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.68479	0.0;-0.08;-0.33	5.44	5.44	0.79542	.	0.351640	0.34291	N	0.004087	T	0.38799	0.1054	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.24154	-1.0168	10	0.09338	T	0.73	-7.3156	6.0439	0.19750	0.0:0.0835:0.1663:0.7502	.	124;205;205;205	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	A	205;205;124	ENSP00000322716:T205A;ENSP00000371413:T205A;ENSP00000390276:T124A	ENSP00000322716:T205A	T	-	1	0	GLYR1	4813834	0.068000	0.21057	0.105000	0.21289	0.497000	0.33675	1.556000	0.36288	2.182000	0.69389	0.482000	0.46254	ACC		0.532	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		32	125	32	125	---	---	---	---	C	4873833	T	C	4873833	3	2	329	1	0	0	0	0	1	0	0	0	6483	1725	60	2	1092	2	GLYR1	16	4873833	Missense_Mutation	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08	3582536	4873833	85480920	24	11812										
AFG3L2	10939	broad.mit.edu	37	chr18	12370900	12370900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ctagctttttttccatttttTccattaggaaagtatttttc	4	7	0	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:12370900T>C	ENST00000269143.3	-	3	471	c.240A>G	c.(238-240)ggA>ggG	p.G80G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	80					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)	TTCCATTTTTTCCATTAGGAA	0.279																																						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.(238-240)ggA>ggG		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						64	61	62					18																	12370900		2192	4294	6486	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12370900T>C	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.240A>G	18.37:g.12370900T>C			Somatic					p.G80G	NM_006796.2	NP_006787.2	WXS	Illumina GAIIx	Phase_I	Q9Y4W6	AFG32_HUMAN			3	471	-			80					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.240A>G	CCDS11859.1																																																																																				0.279	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		4	24	4	24	---	---	---	---	C	12370900	T	C	12370900	2	2	329	1	0	0	0	0	0	0	0	1	360	1770	62	2		2	AFG3L2	18	12370900	Silent	SNP	T	TCGA-ZG-A8QW-01A-11D-A377-08		12370900	65706348	25	11813										
ZNF521	25925	broad.mit.edu	37	chr18	22807246	22807246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	ccgtgtaaggaactagaggaCagaaacccacggcgacaaat	11	10	0	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr18:22807246C>T	ENST00000361524.3	-	4	784	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					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)					AACTAGAGGACAGAAACCCAC	0.493			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.(634-636)ctG>ctA		zinc finger protein 521							93	85	88					18																	22807246		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:22807246C>T	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.636G>A	18.37:g.22807246C>T			Somatic				ZNF521_ENST00000538137.2_Silent_p.L212L|ZNF521_ENST00000584787.1_5'UTR	p.L212L	NM_015461.2	NP_056276.1	WXS	Illumina GAIIx	Phase_I	Q96K83	ZN521_HUMAN			4	784	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		212					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.636G>A	CCDS32806.1																																																																																				0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		13	60	13	60	---	---	---	---	T	22807246	C	T	22807246	2	4	329	1	0	0	0	0	0	0	0	1	17962	465	17	2		2	ZNF521	18	22807246	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08	10436346	22807246	55270002	26	11814										
FCGBP	8857	broad.mit.edu	37	chr19	40362965	40362965	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	gcagtctcctctgccaagcaCactgggcagccttggggccc	12	16	2	0			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:40362965C>A	ENST00000221347.6	-	32	15112	c.15105G>T	c.(15103-15105)gtG>gtT	p.V5035V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5035	VWFD 12. {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)			CTGCCAAGCACACTGGGCAGC	0.706																																						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.(15103-15105)gtG>gtT		Fc fragment of IgG binding protein							24	29	27					19																	40362965		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362965C>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.15105G>T	19.37:g.40362965C>A			Somatic					p.V5035V	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15112	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5035			VWFD 12.		O95784	Silent	SNP	ENST00000221347.6	37	c.15105G>T	CCDS12546.1																																																																																				0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	40	5	40	---	---	---	---	A	40362965	C	A	40362965	2	1	329	1	0	0	0	0	0	0	0	1	5778	465	17	3		3	FCGBP	19	40362965	Silent	SNP	C	TCGA-ZG-A8QW-01A-11D-A377-08		40362965	18766018	27	11815										
PRKD2	25865	broad.mit.edu	37	chr19	47219514	47219514	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	accccggaacccggggccggGatctggggcagtagcggtgg	19	12	1	0	rs577377407		TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:47219514G>A	ENST00000291281.4	-	1	339	c.114C>T	c.(112-114)atC>atT	p.I38I	PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000433867.1_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I|PRKD2_ENST00000600194.1_5'Flank			Q9BZL6	KPCD2_HUMAN	protein kinase D2	38					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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGGGCCGGGATCTGGGGCA	0.716																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(112-114)atC>atT		protein kinase D2							19	25	23					19																	47219514		2187	4270	6457	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219514G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.114C>T	19.37:g.47219514G>A			Somatic				PRKD2_ENST00000601806.1_5'UTR|PRKD2_ENST00000291281.4_Silent_p.I38I|PRKD2_ENST00000595515.1_Silent_p.I38I	p.I38I	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	WXS	Illumina GAIIx	Phase_I	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	591	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	38					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.114C>T	CCDS12689.1																																																																																				0.716	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		7	61	7	61	---	---	---	---	A	47219514	G	A	47219514	2	1	329	1	0	0	0	0	0	0	0	1	12519	1164	41	2		2	PRKD2	19	47219514	Silent	SNP	G	TCGA-ZG-A8QW-01A-11D-A377-08	6856549	47219514	11909469	28	11816										
ZNF83	55769	broad.mit.edu	37	chr19	53117664	53117664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	1	1	0.845679012345679	0	0.951388888888889	1	1	0	acgttggggtggggaaactaAggaactactgttgacagatt	14	5	0	2			TCGA-ZG-A8QW-01A-11D-A377-08	TCGA-ZG-A8QW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad06d026-2957-43c1-9350-74ddc23917e4	166a3681-aabe-4ffd-ae66-5ceee10893bf	g.chr19:53117664A>G	ENST00000597597.1	-	2	2407	c.154T>C	c.(154-156)Tta>Cta	p.L52L	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	52					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(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGGGAAACTAAGGAACTACTG	0.353																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(154-156)Tta>Cta		zinc finger protein 83							90	93	92					19																	53117664		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117664A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.154T>C	19.37:g.53117664A>G			Somatic				ZNF83_ENST00000301096.3_Silent_p.L52L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.L52L|ZNF83_ENST00000544146.1_Silent_p.L52L|ZNF83_ENST00000536937.1_Silent_p.L52L|ZNF83_ENST00000545872.1_Silent_p.L52L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.L52L	p.L52L			WXS	Illumina GAIIx	Phase_I	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2407	-			52					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.154T>C	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		13	87	13	87	---	---	---	---	G	53117664	A	G	53117664	2	3	329	1	0	0	0	0	0	0	0	1	18180	69	3	2		2	ZNF83	19	53117664	Silent	SNP	A	TCGA-ZG-A8QW-01A-11D-A377-08	5898150	53117664	6011319	29	11817										
CASZ1	54897	broad.mit.edu	37	chr1	10725511	10725511	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	agccggcgtcagctcgcttcTccaccaccacctggcggctc							TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:10725511delT	ENST00000377022.3	-	5	451	c.134delA	c.(133-135)gagfs	p.E45fs	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	45					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)		AGCTCGCTTCTCCACCACCAC	0.721																																						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.(133-135)gagfs		castor zinc finger 1							21	26	24					1																	10725511		2151	4242	6393	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725511delT	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.134delA	1.37:g.10725511delT	ENSP00000366221:p.Glu45fs		Somatic				CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	p.E45fs	NM_001079843.2	NP_001073312.1	WXS	Illumina GAIIx	Phase_I	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)	5	451	-	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)	45					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.134delA	CCDS41246.1																																																																																				0.721	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		13	37	13	37	---	---	---	---	-	10725511	T	-	10725511	7	5	330	1	0	1	0	1	0	0	0	0	2685	1551	54	0	5217	0	CASZ1	1	10725511	Frame_Shift_Del	DEL	T	TCGA-ZG-A8QX-01A-11D-A377-08		10725511	238525110	1	11818										
DISC1	27185	broad.mit.edu	37	chr1	232144704	232144704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccccccaggctccactccgAggataaaaggaagacccctt	8	16	0	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:232144704A>G	ENST00000439617.2	+	11	2269	c.2216A>G	c.(2215-2217)gAg>gGg	p.E739G	DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000427560.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	739	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				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)				CTCCACTCCGAGGATAAAAGG	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.(2215-2217)gAg>gGg		disrupted in schizophrenia 1							66	65	65					1																	232144704		1901	4134	6035	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.chr1:232144704A>G	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	ENST00000439617.2:c.2216A>G	1.37:g.232144704A>G	ENSP00000403888:p.Glu739Gly		Somatic				DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	p.E739G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina GAIIx	Phase_I	Q9NRI5	DISC1_HUMAN			11	2269	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	739			Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2216A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.04|16.04	3.009212|3.009212	0.54361|0.54361	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000422590	T|.	0.14766|.	2.48|.	4.72|4.72	3.59|3.59	0.41128|0.41128	.|.	0.297426|.	0.30850|.	N|.	0.008743|.	T|T	0.26521|0.26521	0.0648|0.0648	L|L	0.27053|0.27053	0.805|0.805	0.18873|0.18873	N|N	0.999987|0.999987	D;B;D;B;B;B;B|.	0.59357|.	0.981;0.09;0.985;0.033;0.033;0.033;0.033|.	P;B;P;B;B;B;B|.	0.58873|.	0.791;0.04;0.847;0.04;0.04;0.04;0.04|.	T|T	0.18713|0.18713	-1.0328|-1.0328	10|5	0.52906|.	T|.	0.07|.	-0.6264|-0.6264	7.0621|7.0621	0.25131|0.25131	0.8981:0.0:0.1019:0.0|0.8981:0.0:0.1019:0.0	.|.	771;617;771;739;617;739;739|.	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|.	.;.;.;.;.;.;DISC1_HUMAN|.	G|G	739;739;771;617;71|142	ENSP00000403888:E739G|.	ENSP00000355597:E739G|.	E|R	+|+	2|1	0|2	DISC1|DISC1	230211327|230211327	1.000000|1.000000	0.71417|0.71417	0.004000|0.004000	0.12327|0.12327	0.001000|0.001000	0.01503|0.01503	4.666000|4.666000	0.61554|0.61554	0.823000|0.823000	0.34589|0.34589	-0.297000|-0.297000	0.09499|0.09499	GAG|AGG		0.537	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		5	10	5	10	---	---	---	---	G	232144704	A	G	232144704	3	3	330	1	0	0	0	0	1	0	0	0	4538	304	11	2	2994	2	DISC1	1	232144704	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	221419193	232144704	17105917	2	11819										
SIX3	6496	broad.mit.edu	37	chr2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accggcggcagcgcgaccgcGccgcggcggccaagaacagg	17	16	0	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	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)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(787-789)Gcc>Acc		SIX homeobox 3							12	14	13					2																	45170030		1840	3906	5746	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45170030G>A	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.787G>A	2.37:g.45170030G>A	ENSP00000260653:p.Ala263Thr		Somatic					p.A263T	NM_005413.3	NP_005404.1	WXS	Illumina GAIIx	Phase_I	O95343	SIX3_HUMAN			1	1129	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	263			Poly-Ala.		D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.787G>A	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400157	0.42613	.	.	ENSG00000138083	ENST00000260653	D	0.91631	-2.88	3.38	2.47	0.30058	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	U	0.000002	D	0.90160	0.6925	N	0.16233	0.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.62435	0.902	D	0.88139	0.2843	10	0.39692	T	0.17	.	11.9629	0.53019	0.0:0.1775:0.8224:0.0	.	263	O95343	SIX3_HUMAN	T	263	ENSP00000260653:A263T	ENSP00000260653:A263T	A	+	1	0	SIX3	45023534	1.000000	0.71417	0.997000	0.53966	0.249000	0.25844	9.273000	0.95719	0.590000	0.29694	0.484000	0.47621	GCC		0.677	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		5	12	5	12	---	---	---	---	A	45170030	G	A	45170030	3	1	330	1	0	0	0	0	1	0	0	0	14348	1087	38	2	789	2	SIX3	2	45170030	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		45170030	198029343	3	11820										
DNAJC10	54431	broad.mit.edu	37	chr2	183622509	183622509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgttcaaagataccctgagAtaagattttttcccccaaaa	5	10	1	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:183622509A>G	ENST00000264065.7	+	19	2315	c.1900A>G	c.(1900-1902)Ata>Gta	p.I634V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	634	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)			ATACCCTGAGATAAGATTTTT	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.7																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1900-1902)Ata>Gta		DnaJ (Hsp40) homolog, subfamily C, member 10							70	76	74					2																	183622509		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.chr2:183622509A>G		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.1900A>G	2.37:g.183622509A>G	ENSP00000264065:p.Ile634Val		Somatic					p.I634V	NM_018981.1	NP_061854.1	WXS	Illumina GAIIx	Phase_I	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2315	+						Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1900A>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631858	0.67015	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.42131	0.98	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	L	0.49640	1.575	0.80722	D	1	P;D	0.89917	0.867;1.0	P;D	0.87578	0.47;0.998	T	0.54510	-0.8283	10	0.34782	T	0.22	.	16.2496	0.82475	1.0:0.0:0.0:0.0	.	588;634	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	634;588	ENSP00000264065:I634V	ENSP00000264065:I634V	I	+	1	0	DNAJC10	183330754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.083000	0.89515	2.371000	0.80710	0.533000	0.62120	ATA		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		3	34	3	34	---	---	---	---	G	183622509	A	G	183622509	3	3	330	1	0	0	0	0	1	0	0	0	4629	333	12	2	1966	2	DNAJC10	2	183622509	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	138452479	183622509	59576864	4	11821										
SPAG16	79582	broad.mit.edu	37	chr2	214174863	214174863	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaatttcttgatcaaaatGggaatgaccagaactcttga	8	7	3	4			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:214174863G>C	ENST00000331683.5	+	4	455	c.360G>C	c.(358-360)atG>atC	p.M120I	SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000413312.1_Missense_Mutation_p.M89I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	120					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)		TGATCAAAATGGGAATGACCA	0.318																																						ENST00000413312.1																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(265-267)atG>atC		sperm associated antigen 16							126	132	130					2																	214174863		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214174863G>C	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.360G>C	2.37:g.214174863G>C	ENSP00000332592:p.Met120Ile		Somatic				SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I	p.M89I			WXS	Illumina GAIIx	Phase_I	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)	3	513	+		Renal(323;0.00461)	120					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.267G>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291772	0.59976	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990	T	0.57595	0.39	5.61	5.61	0.85477	.	0.295025	0.39407	N	0.001378	T	0.70124	0.3188	M	0.75777	2.31	0.80722	D	1	P;P;P;P	0.50528	0.831;0.673;0.936;0.774	B;P;P;B	0.61201	0.406;0.542;0.885;0.296	T	0.71155	-0.4675	10	0.56958	D	0.05	.	15.492	0.75615	0.0:0.0:1.0:0.0	.	89;60;120;120	Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;SPG16_HUMAN;.	I	120;120;89;120;120	ENSP00000332592:M120I	ENSP00000272898:M120I	M	+	3	0	SPAG16	213883108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.881000	0.69706	2.802000	0.96397	0.655000	0.94253	ATG		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		7	41	7	41	---	---	---	---	C	214174863	G	C	214174863	3	2	330	1	0	0	0	0	1	0	0	0	14978	1348	47	4	374	4	SPAG16	2	214174863	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	30552354	214174863	29024510	5	11822										
HAPLN1	1404	broad.mit.edu	37	chr5	82937445	82937445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatggggtagcggacgctgCcatccgccaaccagcccgca	13	15	0	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:82937445C>T	ENST00000274341.4	-	5	1785	c.935G>A	c.(934-936)gGc>gAc	p.G312D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	312	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)	GCGGACGCTGCCATCCGCCAA	0.532																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(934-936)gGc>gAc		hyaluronan and proteoglycan link protein 1							110	115	113					5																	82937445		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937445C>T		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.935G>A	5.37:g.82937445C>T	ENSP00000274341:p.Gly312Asp		Somatic					p.G312D	NM_001884.3	NP_001875.1	WXS	Illumina GAIIx	Phase_I	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1785	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	312			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.935G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479996	0.84747	.	.	ENSG00000145681	ENST00000274341	T	0.35789	1.29	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79674	-0.1705	10	0.72032	D	0.01	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	312	P10915	HPLN1_HUMAN	D	312	ENSP00000274341:G312D	ENSP00000274341:G312D	G	-	2	0	HAPLN1	82973201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.969000	0.70422	2.581000	0.87130	0.655000	0.94253	GGC		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		24	96	24	96	---	---	---	---	T	82937445	C	T	82937445	3	4	330	1	0	0	0	0	1	0	0	0	6954	739	26	2	133	2	HAPLN1	5	82937445	Missense_Mutation	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		82937445	97977815	6	11823										
PCDHGA6	56109	broad.mit.edu	37	chr5	140756065	140756065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaacgaaaggagaacccagGcaacttcaggtgagtttctt	11	8	2	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:140756065G>T	ENST00000517434.1	+	1	2415	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	805					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)			GAGAACCCAGGCAACTTCAGG	0.478																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2413-2415)agG>agT									57	59	58					5																	140756065		2125	4260	6385	SO:0001583	missense	56109							g.chr5:140756065G>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.2415G>T	5.37:g.140756065G>T	ENSP00000429601:p.Arg805Ser		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R805S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2415	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2415G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.451715	0.01080	.	.	ENSG00000253731	ENST00000517434	D	0.94497	-3.44	3.03	-6.06	0.02165	.	.	.	.	.	T	0.76948	0.4059	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.67964	-0.5534	9	0.06891	T	0.86	.	2.2176	0.03964	0.1466:0.0978:0.2644:0.4913	.	805;805	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	805	ENSP00000429601:R805S	ENSP00000429601:R805S	R	+	3	2	PCDHGA6	140736249	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.637000	0.00205	-3.222000	0.00211	0.305000	0.20034	AGG		0.478	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		11	28	11	28	---	---	---	---	T	140756065	G	T	140756065	3	4	330	1	0	0	0	0	1	0	0	0	11558	1194	42	3	2417	3	PCDHGA6	5	140756065	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	57818620	140756065	40159195	7	11824										
HEPACAM2	253012	broad.mit.edu	37	chr7	92838015	92838015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagatgcaacttctaagcgaGgcccatgcttaatgatatat	8	9	1	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr7:92838015G>A	ENST00000394468.2	-	4	967	c.890C>T	c.(889-891)cCt>cTt	p.P297L	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	297	Ig-like C2-type 2.				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						TTCTAAGCGAGGCCCATGCTT	0.448																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(889-891)cCt>cTt		HEPACAM family member 2							167	150	156					7																	92838015		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838015G>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.890C>T	7.37:g.92838015G>A	ENSP00000377980:p.Pro297Leu		Somatic				HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L	p.P297L	NM_001039372.1	NP_001034461.1	WXS	Illumina GAIIx	Phase_I	A8MVW5	HECA2_HUMAN			4	967	-			297			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.890C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283389	0.80803	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.79108	0.985;0.992;0.981;0.956	T	0.00472	-1.1719	10	0.30078	T	0.28	-18.3878	16.0183	0.80460	0.0:0.1347:0.8653:0.0	.	320;285;297;285	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	L	297;285;285;320	ENSP00000377980:P297L;ENSP00000340532:P285L;ENSP00000389592:P285L;ENSP00000390204:P320L	ENSP00000340532:P285L	P	-	2	0	HEPACAM2	92675951	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.730000	0.74780	2.826000	0.97356	0.655000	0.94253	CCT		0.448	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		18	48	18	48	---	---	---	---	A	92838015	G	A	92838015	3	1	330	1	0	0	0	0	1	0	0	0	7053	1000	35	2	526	2	HEPACAM2	7	92838015	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		92838015	66300648	8	11825										
BAG1	51510	broad.mit.edu	37	chr9	33262714	33262714	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttacccttaaatatgagtTtctgaaaagactgtggaacc	8	8	1	3			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:33262714T>A	ENST00000223500.8	+	0	0				CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000379704.2_Missense_Mutation_p.K74I|BAG1_ENST00000472232.3_Missense_Mutation_p.K189I|BAG1_ENST00000467389.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						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)			AAATATGAGTTTCTGAAAAGA	0.438																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(565-567)aAa>aTa		BCL2-associated athanogene							73	70	71					9																	33262714		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33262714T>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		9.37:g.33262714T>A	Exception_encountered		Somatic				BAG1_ENST00000379704.2_Missense_Mutation_p.K74I	p.K189I	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	WXS	Illumina GAIIx	Phase_I	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		2	652	-			189			Interaction with HSPA8.|Ubiquitin-like.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.566A>T	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006612	0.74932	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.75938	-0.98;-0.98;-0.98	4.95	3.82	0.43975	Ubiquitin supergroup (1);Ubiquitin (2);	0.049016	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90977	3.165	0.52501	D	0.999956	D	0.76494	0.999	D	0.75020	0.985	D	0.86146	0.1584	10	0.87932	D	0	-11.1572	7.2446	0.26115	0.0:0.0993:0.0:0.9007	.	189	Q99933	BAG1_HUMAN	I	189;74;74;80	ENSP00000420514:K189I;ENSP00000369026:K74I;ENSP00000419092:K80I	ENSP00000369022:K74I	K	-	2	0	BAG1	33252714	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.835000	0.69368	0.907000	0.36646	0.533000	0.62120	AAA		0.438	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		5	25	5	25	---	---	---	---	A	33262714	T	A	33262714	1	1	330	0	1	0	0	0	0	0	0	0	1286	1841	64	5		5	BAG1	9	33262714	5'Flank	SNP	T	TCGA-ZG-A8QX-01A-11D-A377-08		33262714	107950717	9	11826										
ODF2	4957	broad.mit.edu	37	chr9	131231507	131231507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccaccatcttcagaaaagCtggtctcagtgatgcggtta	10	11	3	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:131231507C>T	ENST00000434106.3	+	5	658	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000372814.3_Silent_p.L143L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000546203.1_Silent_p.L80L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	99					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						TTCAGAAAAGCTGGTCTCAGT	0.443																																						ENST00000434106.3																			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.(295-297)Ctg>Ttg		outer dense fiber of sperm tails 2							182	155	164					9																	131231507		2203	4300	6503	SO:0001819	synonymous_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.chr9:131231507C>T	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.295C>T	9.37:g.131231507C>T			Somatic				ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000372791.3_Silent_p.L80L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L	p.L99L	NM_153433.1	NP_702911.1	WXS	Illumina GAIIx	Phase_I	Q5BJF6	ODFP2_HUMAN			5	658	+								B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.295C>T	CCDS56588.1																																																																																				0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			10	38	10	38	---	---	---	---	T	131231507	C	T	131231507	2	4	330	1	0	0	0	0	0	0	0	1	10827	796	28	2		2	ODF2	9	131231507	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	97968793	131231507	9981924	10	11827										
PCDH15	65217	broad.mit.edu	37	chr10	55955442	55955442	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaatatgtatttaacttaCatcttctatgtccttgtcca	3	9	2	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr10:55955442C>T	ENST00000320301.6	-	11	1700		c.e11+1		PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000373965.2_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						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)				ATTTAACTTACATCTTCTATG	0.368										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.e11+1		protocadherin-related 15							81	77	79					10																	55955442		2203	4300	6503	SO:0001630	splice_region_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.chr10:55955442C>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.1305+1G>A	10.37:g.55955442C>T		HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site		NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			11	1700	-		Melanoma(3;0.117)|Lung SC(717;0.238)						A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37		CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151441	0.78001	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0383	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55625448	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.787000	0.85759	2.368000	0.80403	0.591000	0.81541	.		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Intron	12	26	12	26	---	---	---	---	T	55955442	C	T	55955442	5	4	330	1	0	0	0	0	0	0	1	0	11511	492	17	2	6297	2	PCDH15	10	55955442	Splice_Site	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		55955442	79579305	11	11828										
MEN1	4221	broad.mit.edu	37	chr11	64575501	64575501	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagacagggcgaggtggacAtcccggagacccagggcctg	16	12	1	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr11:64575501A>T	ENST00000337652.1	-	3	1034	c.531T>A	c.(529-531)gaT>gaA	p.D177E	MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	177			D -> Y (in MEN1). {ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:9888389}.		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.A167fs*10(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						CGAGGTGGACATCCCGGAGAC	0.622			"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	Deletion - Frameshift(1)	p.A167fs*10(1)	parathyroid(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.(529-531)gaT>gaA		multiple endocrine neoplasia I							53	48	50					11																	64575501		2201	4297	6498	SO:0001583	missense	4221	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.chr11:64575501A>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.531T>A	11.37:g.64575501A>T	ENSP00000337088:p.Asp177Glu		Somatic				MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E	p.D177E	NM_130803.2	NP_570715	WXS	Illumina GAIIx	Phase_I	O00255	MEN1_HUMAN			3	1034	-			177		D -> Y (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.531T>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188611	0.78789	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36	4.76	-0.177	0.13307	.	0.119061	0.53938	D	0.000042	D	0.99384	0.9783	M	0.68317	2.08	0.47659	D	0.999484	D;D;D	0.71674	0.995;0.99;0.998	D;D;D	0.72625	0.917;0.978;0.964	D	0.99091	1.0840	10	0.87932	D	0	-11.9815	8.0418	0.30526	0.6374:0.0:0.3626:0.0	.	172;172;177	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	E	172;172;172;172;172;177;177;177;177;177;172;172;172	ENSP00000366533:D172E;ENSP00000366538:D172E;ENSP00000366543:D172E;ENSP00000308975:D172E;ENSP00000323747:D172E;ENSP00000337088:D177E;ENSP00000377901:D177E;ENSP00000377899:D177E;ENSP00000396940:D177E;ENSP00000366530:D177E;ENSP00000413944:D172E;ENSP00000394933:D172E;ENSP00000411218:D172E	ENSP00000308975:D172E	D	-	3	2	MEN1	64332077	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.505000	0.22642	0.008000	0.14787	0.374000	0.22700	GAT		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			8	18	8	18	---	---	---	---	T	64575501	A	T	64575501	3	4	330	1	0	0	0	0	1	0	0	0	9472	214	8	5	1348	5	MEN1	11	64575501	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08		64575501	70431015	12	11829										
HOXC4	3221	broad.mit.edu	37	chr12	54448678	54448678	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacccaagcgctcgaggacaGcctatacccggcagcaagtc	10	15	0	0			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr12:54448678G>C	ENST00000430889.2	+	2	530	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	162					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						CTCGAGGACAGCCTATACCCG	0.572																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(484-486)Gcc>Ccc		homeobox C4							41	41	41					12																	54448678		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448678G>C		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.484G>C	12.37:g.54448678G>C	ENSP00000399808:p.Ala162Pro		Somatic				HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P	p.A162P	NM_153633.2	NP_705897.1	WXS	Illumina GAIIx	Phase_I	P09017	HXC4_HUMAN			2	530	+			162						Missense_Mutation	SNP	ENST00000430889.2	37	c.484G>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579034	0.65878	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96300	-3.97;-3.97	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	N	0.16862	0.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96732	0.9540	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	162	P09017	HXC4_HUMAN	P	162	ENSP00000305973:A162P;ENSP00000399808:A162P	ENSP00000305973:A162P	A	+	1	0	HOXC4	52734945	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	GCC		0.572	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			7	22	7	22	---	---	---	---	C	54448678	G	C	54448678	3	2	330	1	0	0	0	0	1	0	0	0	7313	971	34	4	490	4	HOXC4	12	54448678	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		54448678	79403217	13	11830										
RNF17	56163	broad.mit.edu	37	chr13	25348980	25348980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtaaatactagacaacgCtactacccaatggctggata	8	10	0	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:25348980C>T	ENST00000255324.5	+	3	307	c.255C>T	c.(253-255)cgC>cgT	p.R85R	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.R85R|RNF17_ENST00000381921.1_Silent_p.R85R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	85					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)			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)		CTAGACAACGCTACTACCCAA	0.353																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(253-255)cgC>cgT		ring finger protein 17							101	97	98					13																	25348980		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25348980C>T	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.255C>T	13.37:g.25348980C>T			Somatic				RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.R85R	p.R85R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	3	307	+		Lung SC(185;0.0225)|Breast(139;0.077)	85					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.255C>T	CCDS9308.2																																																																																				0.353	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	26	5	26	---	---	---	---	T	25348980	C	T	25348980	2	4	330	1	0	0	0	0	0	0	0	1	13461	784	28	2		2	RNF17	13	25348980	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08		25348980	89820898	14	11831										
LCP1	3936	broad.mit.edu	37	chr13	46733779	46733779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccatcatttcctcatcggAcactgatcctctggccattt	5	15	3	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:46733779A>G	ENST00000398576.2	-	5	407	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.S7P			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	7					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)		TCCTCATCGGACACTGATCCT	0.403			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.(19-21)Tcc>Ccc		lymphocyte cytosolic protein 1 (L-plastin)							157	134	141					13																	46733779		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733779A>G	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.19T>C	13.37:g.46733779A>G	ENSP00000381581:p.Ser7Pro		Somatic				LCP1_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR	p.S7P			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	407	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	7					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.19T>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313227	0.81358	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.13	5.13	0.70059	.	0.179147	0.50627	D	0.000103	T	0.22044	0.0531	L	0.54323	1.7	0.80722	D	1	P	0.49090	0.919	P	0.49829	0.623	T	0.00636	-1.1633	10	0.56958	D	0.05	-7.0084	12.9753	0.58534	1.0:0.0:0.0:0.0	.	7	P13796	PLSL_HUMAN	P	7	ENSP00000315757:S7P;ENSP00000381581:S7P;ENSP00000408052:S7P;ENSP00000402157:S7P	ENSP00000315757:S7P	S	-	1	0	LCP1	45631780	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	5.886000	0.69743	2.048000	0.60808	0.533000	0.62120	TCC		0.403	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	39	10	39	---	---	---	---	G	46733779	A	G	46733779	3	3	330	1	0	0	0	0	1	0	0	0	8691	275	10	2	1924	2	LCP1	13	46733779	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	21384799	46733779	68436099	15	11832										
SPOP	8405	broad.mit.edu	37	chr17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagctgaccagtaacaggtAaagtgacaggtaatctttgc	10	8	1	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	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.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113	106	108					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>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.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)	Somatic				SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	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	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	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		19	55	19	55	---	---	---	---	T	47696689	A	T	47696689	3	4	330	1	0	0	0	0	1	0	0	0	15083	362	13	5	893	5	SPOP	17	47696689	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08		47696689	33498521	16	11833										
MBD1	4152	broad.mit.edu	37	chr18	47801395	47801395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaactcggcaggtggcgaGggggccagggctctggggtg	21	8	1	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr18:47801395G>A	ENST00000591416.1	-	10	1361	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000269468.5_Silent_p.P310P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	310	Pro-rich.				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						CAGGTGGCGAGGGGGCCAGGG	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.(928-930)ccC>ccT		methyl-CpG binding domain protein 1							49	51	50					18																	47801395		2203	4300	6503	SO:0001819	synonymous_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.chr18:47801395G>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.930C>T	18.37:g.47801395G>A			Somatic				MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000587605.1_Silent_p.P310P	p.P310P			WXS	Illumina GAIIx	Phase_I	Q9UIS9	MBD1_HUMAN			10	1361	-			310			Pro-rich.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	c.930C>T	CCDS11943.1																																																																																				0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		7	30	7	30	---	---	---	---	A	47801395	G	A	47801395	2	1	330	1	0	0	0	0	0	0	0	1	9342	987	35	2		2	MBD1	18	47801395	Silent	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		47801395	30275853	17	11834										
ZNF285	26974	broad.mit.edu	37	chr19	44891979	44891979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgattctggggtaagaaccTgtgtcaggctttgccatgct	12	9	2	1			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:44891979T>C	ENST00000330997.4	-	4	492	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	143					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						GGTAAGAACCTGTGTCAGGCT	0.413																																						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.(427-429)cAg>cGg		zinc finger protein 285							93	92	92					19																	44891979		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891979T>C	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.428A>G	19.37:g.44891979T>C	ENSP00000333595:p.Gln143Arg		Somatic				ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron	p.Q143R	NM_152354.3	NP_689567.3	WXS	Illumina GAIIx	Phase_I					4	492	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.428A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.358	0.251318	0.10130	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05925	3.37	3.22	0.101	0.14517	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.28232	0.087;0.087	T	0.43829	-0.9367	9	0.16896	T	0.51	.	2.9115	0.05738	0.2007:0.203:0.0:0.5962	.	167;143	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	R	166;143	ENSP00000333595:Q143R	ENSP00000333595:Q143R	Q	-	2	0	ZNF285	49583819	0.005000	0.15991	0.230000	0.23976	0.163000	0.22366	0.695000	0.25527	0.254000	0.21573	0.373000	0.22412	CAG		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		26	104	26	104	---	---	---	---	C	44891979	T	C	44891979	3	2	330	1	0	0	0	0	1	0	0	0	17819	1580	55	2	1348	2	ZNF285	19	44891979	Missense_Mutation	SNP	T	TCGA-ZG-A8QX-01A-11D-A377-08		44891979	14237004	18	11835										
TBC1D17	79735	broad.mit.edu	37	chr19	50386969	50386969	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctgagcaggagcggagaAactcacttctgcatggatac	12	11	2	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:50386969A>C	ENST00000221543.5	+	10	1392	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	365	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGAGCGGAGAAACTCACTTCT	0.567																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1093-1095)Aac>Cac		TBC1 domain family, member 17							134	105	115					19																	50386969		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50386969A>C	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1093A>C	19.37:g.50386969A>C	ENSP00000221543:p.Asn365His		Somatic				TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	p.N365H	NM_024682.2	NP_078958	WXS	Illumina GAIIx	Phase_I	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1392	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	365			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1093A>C	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034507	0.75617	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11930	2.73;2.73	5.39	5.39	0.77823	Rab-GAP/TBC domain (4);	0.104868	0.64402	D	0.000007	T	0.39911	0.1096	M	0.86502	2.82	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.984	T	0.38735	-0.9647	10	0.19590	T	0.45	-52.7622	13.3425	0.60553	1.0:0.0:0.0:0.0	.	332;365	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	365;332	ENSP00000221543:N365H;ENSP00000446323:N332H	ENSP00000221543:N365H	N	+	1	0	TBC1D17	55078781	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.633000	0.90999	2.038000	0.60285	0.459000	0.35465	AAC		0.567	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		10	39	10	39	---	---	---	---	C	50386969	A	C	50386969	3	2	330	1	0	0	0	0	1	0	0	0	15603	14	1	5	1131	5	TBC1D17	19	50386969	Missense_Mutation	SNP	A	TCGA-ZG-A8QX-01A-11D-A377-08	5494990	50386969	8742014	19	11836										
ZNF468	90333	broad.mit.edu	37	chr19	53344800	53344800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcttctgattaaagaccttGccacatacatcacatttaca	4	12	2	2	rs202238742		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:53344800G>A	ENST00000595646.1	-	4	867	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	249					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)		TAAAGACCTTGCCACATACAT	0.378																																						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.(745-747)ggC>ggT		zinc finger protein 468							120	103	109					19																	53344800		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344800G>A	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.747C>T	19.37:g.53344800G>A			Somatic				ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G	p.G249G			WXS	Illumina GAIIx	Phase_I	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	867	-			249					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.747C>T	CCDS33094.1																																																																																				0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		12	45	12	45	---	---	---	---	A	53344800	G	A	53344800	2	1	330	1	0	0	0	0	0	0	0	1	17925	1306	46	2		2	ZNF468	19	53344800	Silent	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08	2957831	53344800	5784183	20	11837										
NLRP4	147945	broad.mit.edu	37	chr19	56369989	56369989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagagggtatgtggacagaCacatttgagttttgtgaaga	14	4	0	5			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:56369989C>T	ENST00000301295.6	+	3	1652	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	410	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)		TGTGGACAGACACATTTGAGT	0.577																																						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.(1228-1230)gaC>gaT		NLR family, pyrin domain containing 4							95	95	95					19																	56369989		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369989C>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.1230C>T	19.37:g.56369989C>T			Somatic				NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	p.D410D	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1652	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	410			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1230C>T	CCDS12936.1																																																																																				0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		18	39	18	39	---	---	---	---	T	56369989	C	T	56369989	2	4	330	1	0	0	0	0	0	0	0	1	10479	477	17	2		2	NLRP4	19	56369989	Silent	SNP	C	TCGA-ZG-A8QX-01A-11D-A377-08	3025189	56369989	2758994	21	11838										
MYO18B	84700	broad.mit.edu	37	chr22	26422469	26422469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggcattggcactgagcagaGcccggtccaccaatgtccac	11	15	0	2			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr22:26422469G>A	ENST00000407587.2	+	43	6701	c.6532G>A	c.(6532-6534)Gcc>Acc	p.A2178T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A2177T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2177						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						ACTGAGCAGAGCCCGGTCCAC	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.(6529-6531)Gcc>Acc		myosin XVIIIB							98	107	104					22																	26422469		1961	4150	6111	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422469G>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.6532G>A	22.37:g.26422469G>A	ENSP00000386096:p.Ala2178Thr		Somatic				MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2178T	p.A2177T	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			43	6779	+			2177					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6529G>A		.	.	.	.	.	.	.	.	.	.	G	12.83	2.056350	0.36277	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	5.31	1.3	0.21679	.	.	.	.	.	T	0.77205	0.4096	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.15473	0.002;0.003;0.008;0.001;0.013	B;B;B;B;B	0.15870	0.003;0.002;0.006;0.003;0.014	T	0.59653	-0.7414	9	0.21540	T	0.41	.	3.2571	0.06835	0.1252:0.1625:0.5458:0.1666	.	1690;2179;2177;2178;2177	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	T	2177;2177;2178	ENSP00000441229:A2177T;ENSP00000334563:A2177T;ENSP00000386096:A2178T	ENSP00000334563:A2177T	A	+	1	0	MYO18B	24752469	0.003000	0.15002	0.251000	0.24312	0.037000	0.13140	0.962000	0.29280	1.194000	0.43101	0.591000	0.81541	GCC		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		19	67	19	67	---	---	---	---	A	26422469	G	A	26422469	3	1	330	1	0	0	0	0	1	0	0	0	10066	971	34	2	6695	2	MYO18B	22	26422469	Missense_Mutation	SNP	G	TCGA-ZG-A8QX-01A-11D-A377-08		26422469	24882097	22	11839										
WDR77	79084	broad.mit.edu	37	chr1	111983955	111983955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ctgtggtaagcagggagtgaTtgagcggggaccaagtcgca	17	7	0	2	rs201514516	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:111983955T>C	ENST00000235090.5	-	10	1132	c.926A>G	c.(925-927)aAt>aGt	p.N309S	WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	309					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)		CAGGGAGTGATTGAGCGGGGA	0.532													T|||	2	0.000399361	0	0	5008	,	,		18160	0		0	False		,,,				2504	0.002					ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(925-927)aAt>aGt		WD repeat domain 77							112	104	107					1																	111983955		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.chr1:111983955T>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.926A>G	1.37:g.111983955T>C	ENSP00000235090:p.Asn309Ser		Somatic				WDR77_ENST00000411751.2_Missense_Mutation_p.N245S|WDR77_ENST00000497278.1_5'UTR	p.N309S	NM_024102.2	NP_077007.1	WXS	Illumina GAIIx	Phase_I	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	1132	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	309					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.926A>G	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.76|19.76	3.887231|3.887231	0.72410|0.72410	.|.	.|.	ENSG00000116455|ENSG00000116455	ENST00000449340|ENST00000235090;ENST00000411751	.|T;T	.|0.29917	.|1.55;1.56	5.91|5.91	4.79|4.79	0.61399|0.61399	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.132593	.|0.64402	.|D	.|0.000002	T|T	0.14184|0.14184	0.0343|0.0343	L|L	0.60455|0.60455	1.87|1.87	0.33556|0.33556	D|D	0.59674|0.59674	.|B;P	.|0.39665	.|0.136;0.682	.|B;B	.|0.32928	.|0.035;0.155	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.46703	.|T	.|0.11	-16.5945|-16.5945	11.7189|11.7189	0.51670|0.51670	0.0:0.0695:0.0:0.9305|0.0:0.0695:0.0:0.9305	.|.	.|245;309	.|B4DP38;Q9BQA1	.|.;MEP50_HUMAN	V|S	258|309;245	.|ENSP00000235090:N309S;ENSP00000400321:N245S	.|ENSP00000235090:N309S	I|N	-|-	1|2	0|0	WDR77|WDR77	111785478|111785478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.187000|3.187000	0.50950|0.50950	1.061000|1.061000	0.40601|0.40601	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.532	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		13	43	13	43	---	---	---	---	C	111983955	T	C	111983955	3	2	331	1	0	0	0	0	1	0	0	0	17324	1493	52	2	106	2	WDR77	1	111983955	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		111983955	137266666	1	11840										
INSRR	3645	broad.mit.edu	37	chr1	156819190	156819190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ccacgggaatggtgagccccGcggccacccaggaccctagc	13	17	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:156819190G>A	ENST00000368195.3	-	6	1688	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					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)					GGTGAGCCCCGCGGCCACCCA	0.622																																						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.(1291-1293)gCg>gTg		insulin receptor-related receptor							93	95	94					1																	156819190		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.chr1:156819190G>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.1292C>T	1.37:g.156819190G>A	ENSP00000357178:p.Ala431Val		Somatic				NTRK1_ENST00000392302.2_Intron	p.A431V	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			6	1688	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		431					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1292C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351280	0.41700	.	.	ENSG00000027644	ENST00000368195	T	0.79352	-1.26	4.77	2.85	0.33270	EGF receptor, L domain (1);	0.153579	0.30365	N	0.009789	T	0.51856	0.1699	.	.	.	0.09310	N	1	B	0.26120	0.142	B	0.22386	0.039	T	0.51647	-0.8679	9	0.66056	D	0.02	.	11.6272	0.51153	0.0:0.0:0.5333:0.4667	.	431	P14616	INSRR_HUMAN	V	431	ENSP00000357178:A431V	ENSP00000357178:A431V	A	-	2	0	INSRR	155085814	0.999000	0.42202	0.052000	0.19188	0.982000	0.71751	3.256000	0.51492	0.598000	0.29829	0.561000	0.74099	GCG		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		14	49	14	49	---	---	---	---	A	156819190	G	A	156819190	3	1	331	1	0	0	0	0	1	0	0	0	7774	1087	38	2	2668	2	INSRR	1	156819190	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	44835235	156819190	92431431	2	11841										
MARK1	4139	broad.mit.edu	37	chr1	220791998	220791998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gaactgcgagagcgagttttAcgagggaagtaccgtattcc	13	8	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:220791998A>G	ENST00000366917.4	+	9	1076	c.810A>G	c.(808-810)ttA>ttG	p.L270L	MARK1_ENST00000366918.4_Silent_p.L248L|MARK1_ENST00000402574.1_Silent_p.L135L					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)		AGCGAGTTTTACGAGGGAAGT	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.(403-405)ttA>ttG		MAP/microtubule affinity-regulating kinase 1							98	99	99					1																	220791998		2203	4300	6503	SO:0001819	synonymous_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791998A>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.810A>G	1.37:g.220791998A>G			Somatic				MARK1_ENST00000366917.4_Silent_p.L270L|MARK1_ENST00000366918.4_Silent_p.L248L	p.L135L	NM_018650.3	NP_061120.3	WXS	Illumina GAIIx	Phase_I	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1407	+			270			Protein kinase.			Silent	SNP	ENST00000366917.4	37	c.405A>G	CCDS31029.2																																																																																				0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			23	36	23	36	---	---	---	---	G	220791998	A	G	220791998	2	3	331	1	0	0	0	0	0	0	0	1	9312	388	14	2		2	MARK1	1	220791998	Silent	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	63972808	220791998	28458623	3	11842										
TLR5	7100	broad.mit.edu	37	chr1	223284141	223284141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	actgttccagatggcatcctGgatattggcaatgcggtttt	11	8	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:223284141G>T	ENST00000540964.1	-	4	2694	c.2233C>A	c.(2233-2235)Cag>Aag	p.Q745K	TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K			O60602	TLR5_HUMAN	toll-like receptor 5	745	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		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)		ATGGCATCCTGGATATTGGCA	0.473																																						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.(2233-2235)Cag>Aag		toll-like receptor 5							79	73	75					1																	223284141		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.chr1:223284141G>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.2233C>A	1.37:g.223284141G>T	ENSP00000440643:p.Gln745Lys		Somatic				TLR5_ENST00000342210.6_Missense_Mutation_p.Q745K	p.Q745K			WXS	Illumina GAIIx	Phase_I	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2694	-			745		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2233C>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944194	0.53079	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.07567	3.18;3.18;3.18	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.065812	0.64402	D	0.000018	T	0.18341	0.0440	M	0.68952	2.095	0.35556	D	0.80425	B	0.25235	0.121	B	0.35971	0.215	T	0.06391	-1.0829	10	0.49607	T	0.09	.	20.0791	0.97764	0.0:0.0:1.0:0.0	.	745	O60602	TLR5_HUMAN	K	745	ENSP00000440643:Q745K;ENSP00000355846:Q745K;ENSP00000340089:Q745K	ENSP00000340089:Q745K	Q	-	1	0	TLR5	221350764	1.000000	0.71417	0.998000	0.56505	0.642000	0.38348	3.917000	0.56424	2.735000	0.93741	0.650000	0.86243	CAG		0.473	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		3	21	3	21	---	---	---	---	T	223284141	G	T	223284141	3	4	331	1	0	0	0	0	1	0	0	0	15951	1357	47	1	347	1	TLR5	1	223284141	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	2492143	223284141	25966480	4	11843										
PCNXL2	80003	broad.mit.edu	37	chr1	233394212	233394212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	agatccgtagccagaacactGattggtggataccctcgtct	10	11	1	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr1:233394212G>A	ENST00000258229.9	-	5	1630	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	466						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)				CCAGAACACTGATTGGTGGAT	0.572																																						ENST00000258229.9																			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.(1396-1398)Cag>Tag		pecanex-like 2 (Drosophila)							58	62	61					1																	233394212		1978	4159	6137	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233394212G>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.1396C>T	1.37:g.233394212G>A	ENSP00000258229:p.Gln466*		Somatic				PCNXL2_ENST00000430153.1_5'UTR	p.Q466*	NM_014801.3	NP_055616.3	WXS	Illumina GAIIx	Phase_I	A6NKB5	PCX2_HUMAN			5	1630	-		all_cancers(173;0.0347)|Prostate(94;0.137)						O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.1396C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	38	6.883467	0.97908	.	.	ENSG00000135749	ENST00000258229	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.8601	0.92268	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000258229:Q466X	Q	-	1	0	PCNXL2	231460835	0.998000	0.40836	0.401000	0.26359	0.044000	0.14063	4.788000	0.62439	2.682000	0.91365	0.655000	0.94253	CAG		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		11	11	11	11	---	---	---	---	A	233394212	G	A	233394212	4	1	331	1	0	0	0	0	0	1	0	0	11592	1299	45	2	5137	2	PCNXL2	1	233394212	Nonsense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	10110071	233394212	15856409	5	11844										
NCOA1	8648	broad.mit.edu	37	chr2	24990954	24990954	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttttctttttgtaggacaagAagacagaagagttcttctct	8	6	3	4			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:24990954A>C	ENST00000406961.1	+	23	4807				NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q|NCOA1_ENST00000405141.1_Missense_Mutation_p.K1388Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1						androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|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)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGGACAAGAAGACAGAAGA	0.438			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(4162-4164)Aag>Cag		nuclear receptor coactivator 1							92	93	92					2																	24990954		2203	4300	6503	SO:0001627	intron_variant	8648							g.chr2:24990954A>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4156-136A>C	2.37:g.24990954A>C			Somatic				NCOA1_ENST00000407230.1_Missense_Mutation_p.K1237Q|NCOA1_ENST00000406961.1_Intron|NCOA1_ENST00000395856.3_Intron|NCOA1_ENST00000348332.3_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.K1388Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.K1388Q	p.K1388Q			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			24	4873	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1388					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4162A>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	0.595	-0.831530	0.02713	.	.	ENSG00000084676	ENST00000405141;ENST00000407230;ENST00000538539;ENST00000288599	T;T;T;T	0.01685	4.82;4.69;4.82;4.82	5.74	5.74	0.90152	.	.	.	.	.	T	0.01558	0.0050	N	0.00436	-1.5	0.21184	N	0.999769	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.57271	-0.7840	9	0.02654	T	1	.	14.2767	0.66184	1.0:0.0:0.0:0.0	.	1388;1237	Q15788-2;B5MCN7	.;.	Q	1388;1237;1388;1388	ENSP00000385097:K1388Q;ENSP00000385195:K1237Q;ENSP00000444039:K1388Q;ENSP00000288599:K1388Q	ENSP00000288599:K1388Q	K	+	1	0	NCOA1	24844458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.194000	0.70268	0.460000	0.39030	AAG		0.438	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		31	97	31	97	---	---	---	---	C	24990954	A	C	24990954	1	2	331	0	1	0	0	0	0	0	0	0	10228	247	9	5		5	NCOA1	2	24990954	Intron	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08		24990954	218208419	6	11845										
IFT172	26160	broad.mit.edu	37	chr2	27680743	27680756	+	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	CTGGATGGTGCTTC	-													0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gtgtgtatcactgaggagatCtggatggtgcttccctacca					rs61747068	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:27680743_27680756delCTGGATGGTGCTTC	ENST00000260570.3	-	28	3166_3179	c.3063_3076delGAAGCACCATCCAG	c.(3061-3078)gggaagcaccatccagatfs	p.KHHPD1022fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1022					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)					CTGAGGAGATCTGGATGGTGCTTCCCTACCAGGC	0.514																																						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.(3061-3078)gggaagcaccatccagatfs		intraflagellar transport 172 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27680743_27680756delCTGGATGGTGCTTC	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.3063_3076delGAAGCACCATCCAG	2.37:g.27680743_27680756delCTGGATGGTGCTTC	ENSP00000260570:p.Lys1022fs		Somatic					p.KHHPD1022fs	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			28	3166_3179	-	Acute lymphoblastic leukemia(172;0.155)		1022					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.3063_3076delGAAGCACCATCCAG	CCDS1755.1																																																																																				0.514	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	56	9	56	---	---	---	---	-	27680756	CTGGATGGTGCTTC	-	27680743	7	5	331	1	0	1	0	1	0	0	0	0	7557	913	32	0	2257	0	IFT172	2	27680743	Frame_Shift_Del	DEL	CTGGATGGTGCTTC	TCGA-ZG-A8QY-01A-11D-A377-08	2689789	27680743	215518630	7	11846										
TANK	10010	broad.mit.edu	37	chr2	162091959	162091959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tgaattctgtcaagcagtttTcccaccatccattacatcca	4	13	2	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:162091959T>C	ENST00000392749.2	+	8	1447	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	TANK_ENST00000259075.2_Missense_Mutation_p.F403S|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	403					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAAGCAGTTTTCCCACCATCC	0.433																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1207-1209)tTc>tCc		TRAF family member-associated NFKB activator							135	130	132					2																	162091959		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162091959T>C	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1208T>C	2.37:g.162091959T>C	ENSP00000376505:p.Phe403Ser		Somatic				AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.F403S	p.F403S	NM_001199135.1	NP_001186064.1	WXS	Illumina GAIIx	Phase_I	Q92844	TANK_HUMAN			8	1447	+			403					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.1208T>C	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902863	0.92035	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000439442	T;T;T	0.36520	1.62;1.62;1.25	5.98	5.98	0.97165	.	0.106594	0.64402	D	0.000005	T	0.37679	0.1012	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	P	0.49140	0.601	T	0.24119	-1.0169	10	0.87932	D	0	-1.0782	16.4696	0.84102	0.0:0.0:0.0:1.0	.	403	Q92844	TANK_HUMAN	S	403;403;176	ENSP00000259075:F403S;ENSP00000376505:F403S;ENSP00000387439:F176S	ENSP00000259075:F403S	F	+	2	0	TANK	161800205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.289000	0.77006	0.482000	0.46254	TTC		0.433	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		30	71	30	71	---	---	---	---	C	162091959	T	C	162091959	3	2	331	1	0	0	0	0	1	0	0	0	15543	1783	62	2	1267	2	TANK	2	162091959	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	134411216	162091959	81107414	8	11847										
GAD1	2571	broad.mit.edu	37	chr2	171700581	171700581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	atatgaaattgcaccagtgtTtgtcctcatggaacaaataa	7	7	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:171700581T>C	ENST00000358196.3	+	7	1215	c.665T>C	c.(664-666)tTt>tCt	p.F222S	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	222					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						GCACCAGTGTTTGTCCTCATG	0.368																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(664-666)tTt>tCt		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						194	197	196					2																	171700581		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.chr2:171700581T>C		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.665T>C	2.37:g.171700581T>C	ENSP00000350928:p.Phe222Ser		Somatic				GAD1_ENST00000429023.1_3'UTR	p.F222S	NM_000817.2	NP_000808.2	WXS	Illumina GAIIx	Phase_I	Q99259	DCE1_HUMAN			7	1215	+			222					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.665T>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.291724	0.80914	.	.	ENSG00000128683	ENST00000358196	T	0.37235	1.21	6.17	6.17	0.99709	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75408	-0.3328	10	0.87932	D	0	-14.5475	16.8222	0.85835	0.0:0.0:0.0:1.0	.	222	Q99259	DCE1_HUMAN	S	222	ENSP00000350928:F222S	ENSP00000350928:F222S	F	+	2	0	GAD1	171408827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.633000	0.83260	2.371000	0.80710	0.533000	0.62120	TTT		0.368	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			9	22	9	22	---	---	---	---	C	171700581	T	C	171700581	3	2	331	1	0	0	0	0	1	0	0	0	6179	1841	64	2	728	2	GAD1	2	171700581	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	9608622	171700581	71498792	9	11848										
ADAM23	8745	broad.mit.edu	37	chr2	207414876	207414876	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	aacttatgattgttaatgatCacaaaacggtaagaatatag	7	4	1	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr2:207414876C>G	ENST00000264377.3	+	9	1253	c.925C>G	c.(925-927)Cac>Gac	p.H309D	ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D|ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	309	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)		TGTTAATGATCACAAAACGGT	0.269																																					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.(925-927)Cac>Gac		ADAM metallopeptidase domain 23							69	71	71					2																	207414876		2203	4297	6500	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.chr2:207414876C>G	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.925C>G	2.37:g.207414876C>G	ENSP00000264377:p.His309Asp		Somatic				ADAM23_ENST00000374415.3_Missense_Mutation_p.H309D|ADAM23_ENST00000374416.1_Missense_Mutation_p.H309D	p.H309D	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	9	1253	+			309			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.925C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574942	0.86542	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09911	2.93;2.93;2.93	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000023	T	0.33962	0.0881	M	0.62154	1.92	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	T	0.00414	-1.1754	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	309	O75077	ADA23_HUMAN	D	309;309;203;309	ENSP00000264377:H309D;ENSP00000363537:H309D;ENSP00000363536:H309D	ENSP00000264377:H309D	H	+	1	0	ADAM23	207123121	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.879000	0.75572	2.937000	0.99478	0.650000	0.86243	CAC		0.269	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		10	24	10	24	---	---	---	---	G	207414876	C	G	207414876	3	3	331	1	0	0	0	0	1	0	0	0	245	826	29	4	959	4	ADAM23	2	207414876	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	35714295	207414876	35784497	10	11849										
CP	1356	broad.mit.edu	37	chr3	148916153	148916153	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tttttccccagttggacttaCctgtctcccatttgcatgta	6	12	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr3:148916153C>G	ENST00000264613.6	-	9	1976		c.e9+1		CP_ENST00000462336.1_Splice_Site	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						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)	GTTGGACTTACCTGTCTCCCA	0.338																																						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.e9+1		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						90	85	87					3																	148916153		2203	4300	6503	SO:0001630	splice_region_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916153C>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.1713+1G>C	3.37:g.148916153C>G			Somatic				CP_ENST00000462336.1_Splice_Site		NM_000096.3	NP_000087	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1976	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)						Q14063|Q2PP18|Q9UKS4	Splice_Site	SNP	ENST00000264613.6	37		CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522984	0.64747	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4968	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CP	150398843	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	4.541000	0.60670	2.573000	0.86826	0.650000	0.86243	.		0.338	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	Intron	13	32	13	32	---	---	---	---	G	148916153	C	G	148916153	5	3	331	1	0	0	0	0	0	0	1	0	3787	521	18	4	1527	4	CP	3	148916153	Splice_Site	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		148916153	49106277	11	11850										
C4orf14	84273	broad.mit.edu	37	chr4	57842862	57842862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tcggcggattcggattctccCcgtcctgtggctcgtccttg	12	14	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr4:57842862C>A	ENST00000264230.4	-	1	2127	c.890G>T	c.(889-891)gGg>gTg	p.G297V	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	297	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				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)										CGGATTCTCCCCGTCCTGTGG	0.677																																						ENST00000264230.4																			0											c.(889-891)gGg>gTg		nitric oxide associated 1							38	38	38					4																	57842862		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57842862C>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.890G>T	4.37:g.57842862C>A	ENSP00000264230:p.Gly297Val		Somatic					p.G297V	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			1	2127	-			297					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.890G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	2.722	-0.266383	0.05754	.	.	ENSG00000084092	ENST00000264230	T	0.28666	1.6	3.54	-4.98	0.03019	.	2.263710	0.01747	N	0.029718	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	0.999995	B	0.17038	0.02	B	0.08055	0.003	T	0.11324	-1.0592	10	0.12766	T	0.61	.	1.5597	0.02592	0.1393:0.2041:0.3686:0.288	.	297	Q8NC60	CD014_HUMAN	V	297	ENSP00000264230:G297V	ENSP00000264230:G297V	G	-	2	0	C4orf14	57537619	.	.	0.000000	0.03702	0.048000	0.14542	.	.	-1.353000	0.02191	0.555000	0.69702	GGG		0.677	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		4	29	4	29	---	---	---	---	A	57842862	C	A	57842862	3	1	331	1	0	0	0	0	1	0	0	0	2251	623	22	1	1234	1	C4orf14	4	57842862	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		57842862	133311414	12	11851										
FNIP1	96459	broad.mit.edu	37	chr5	131008040	131008040	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	catgtttcctctgttgactcTaagcctgactctgacaatgc	7	12	3	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:131008040T>C	ENST00000510461.1	-	14	2192	c.2097A>G	c.(2095-2097)ttA>ttG	p.L699L	FNIP1_ENST00000307954.8_Silent_p.L654L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Silent_p.L671L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	699					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)		CTGTTGACTCTAAGCCTGACT	0.428																																						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.(2011-2013)ttA>ttG		folliculin interacting protein 1							228	211	216					5																	131008040		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131008040T>C	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.2097A>G	5.37:g.131008040T>C			Somatic				CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.L654L|FNIP1_ENST00000510461.1_Silent_p.L699L	p.L671L	NM_001008738.2	NP_001008738	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2012	-		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.2013A>G	CCDS34227.1																																																																																				0.428	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		56	148	56	148	---	---	---	---	C	131008040	T	C	131008040	2	2	331	1	0	0	0	0	0	0	0	1	5975	1519	53	2		2	FNIP1	5	131008040	Silent	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		131008040	49907220	13	11852										
MYOT	9499	broad.mit.edu	37	chr5	137219277	137219277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tcactgtgcagctggatgtcCttggtaagcctccaaagaga	11	10	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:137219277C>A	ENST00000239926.4	+	7	1395	c.1021C>A	c.(1021-1023)Ctt>Att	p.L341I	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	341	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)			GCTGGATGTCCTTGGTAAGCC	0.413																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1021-1023)Ctt>Att		myotilin							61	59	60					5																	137219277		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219277C>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.1021C>A	5.37:g.137219277C>A	ENSP00000239926:p.Leu341Ile		Somatic				RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.L157I|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.L226I|MYOT_ENST00000509812.1_Intron	p.L341I	NM_006790.2	NP_006781	WXS	Illumina GAIIx	Phase_I	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1395	+			341			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.1021C>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	4.543	0.100833	0.08731	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.74106	-0.81;-0.81;-0.81	5.01	3.22	0.36961	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	T	0.51839	0.1698	N	0.16166	0.38	0.32482	N	0.541402	B	0.09022	0.002	B	0.04013	0.001	T	0.49153	-0.8969	10	0.16896	T	0.51	.	7.4958	0.27487	0.4467:0.472:0.0:0.0812	.	341	Q9UBF9	MYOTI_HUMAN	I	341;157;226	ENSP00000239926:L341I;ENSP00000391185:L157I;ENSP00000426281:L226I	ENSP00000239926:L341I	L	+	1	0	MYOT	137247176	0.026000	0.19158	0.997000	0.53966	0.992000	0.81027	0.364000	0.20325	0.616000	0.30141	0.655000	0.94253	CTT		0.413	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		3	28	3	28	---	---	---	---	A	137219277	C	A	137219277	3	1	331	1	0	0	0	0	1	0	0	0	10094	681	24	1	1043	1	MYOT	5	137219277	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	6211237	137219277	43695983	14	11853										
PCDHA12	56137	broad.mit.edu	37	chr5	140256423	140256423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	acgacaatgcgcctgcgttcGcgcagcccgagtacacagtg	12	14	0	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr5:140256423G>A	ENST00000398631.2	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	456	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.A456T(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)			GCCTGCGTTCGCGCAGCCCGA	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - Missense(1)	p.A456T(1)	endometrium(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.(1366-1368)Gcg>Acg									102	103	102					5																	140256423		2203	4300	6503	SO:0001583	missense	56137							g.chr5:140256423G>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.1366G>A	5.37:g.140256423G>A	ENSP00000381628:p.Ala456Thr		Somatic				PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	p.A456T	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1366G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308853	0.23821	.	.	ENSG00000251664	ENST00000398631	T	0.01359	4.98	4.92	4.04	0.47022	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00815	0.0027	N	0.04994	-0.135	0.09310	N	0.999996	P;B	0.40266	0.71;0.152	B;B	0.32090	0.14;0.116	T	0.54173	-0.8333	9	0.33141	T	0.24	.	7.4859	0.27432	0.1218:0.2814:0.5969:0.0	.	456;456	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	456	ENSP00000381628:A456T	ENSP00000381628:A456T	A	+	1	0	PCDHA12	140236607	0.000000	0.05858	0.990000	0.47175	0.616000	0.37450	-1.270000	0.02831	1.196000	0.43129	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		36	114	36	114	---	---	---	---	A	140256423	G	A	140256423	3	1	331	1	0	0	0	0	1	0	0	0	11522	1087	38	2	1368	2	PCDHA12	5	140256423	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	3037146	140256423	40658837	15	11854										
TDRD6	221400	broad.mit.edu	37	chr6	46658755	46658755	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	caagaccagtaaaacttcagAagcctttggagtcctctgtt	8	10	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:46658755A>C	ENST00000316081.6	+	1	2890	c.2890A>C	c.(2890-2892)Aag>Cag	p.K964Q	TDRD6_ENST00000544460.1_Missense_Mutation_p.K964Q|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	964					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)			AAAACTTCAGAAGCCTTTGGA	0.363																																						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.(2890-2892)Aag>Cag		tudor domain containing 6							63	70	68					6																	46658755		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658755A>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.2890A>C	6.37:g.46658755A>C	ENSP00000346065:p.Lys964Gln		Somatic				TDRD6_ENST00000316081.6_Missense_Mutation_p.K964Q	p.K964Q	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3144	+			964					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2890A>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155404	0.57259	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.74	5.74	0.90152	.	0.356145	0.28641	N	0.014640	T	0.10809	0.0264	L	0.35723	1.085	0.37985	D	0.933729	P;P	0.47762	0.9;0.72	P;B	0.47430	0.547;0.345	T	0.13764	-1.0497	10	0.20519	T	0.43	-5.7383	16.0326	0.80588	1.0:0.0:0.0:0.0	.	964;964	F5H5M3;O60522	.;TDRD6_HUMAN	Q	964	ENSP00000443299:K964Q;ENSP00000346065:K964Q	ENSP00000346065:K964Q	K	+	1	0	TDRD6	46766714	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.996000	0.76263	2.185000	0.69588	0.528000	0.53228	AAG		0.363	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		25	58	25	58	---	---	---	---	C	46658755	A	C	46658755	3	2	331	1	0	0	0	0	1	0	0	0	15731	247	9	5	2892	5	TDRD6	6	46658755	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08		46658755	124456312	16	11855										
FAM83B	222584	broad.mit.edu	37	chr6	54806506	54806506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttacccctgaaagaagacctActtcttctccaaggccaacg	6	14	2	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr6:54806506A>G	ENST00000306858.7	+	5	2853	c.2737A>G	c.(2737-2739)Act>Gct	p.T913A	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	913										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)					AAGAAGACCTACTTCTTCTCC	0.463																																						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.(2737-2739)Act>Gct		family with sequence similarity 83, member B							110	99	103					6																	54806506		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806506A>G	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.2737A>G	6.37:g.54806506A>G	ENSP00000304078:p.Thr913Ala		Somatic					p.T913A	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			5	2853	+	Lung NSC(77;0.0178)|Renal(3;0.122)		913					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2737A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	2.059	-0.415895	0.04766	.	.	ENSG00000168143	ENST00000306858	T	0.06608	3.28	5.24	1.72	0.24424	.	2.791760	0.01197	N	0.007461	T	0.01061	0.0035	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42310	-0.9459	10	0.13108	T	0.6	-1.9391	1.6213	0.02713	0.2673:0.206:0.3927:0.134	.	913	Q5T0W9	FA83B_HUMAN	A	913	ENSP00000304078:T913A	ENSP00000304078:T913A	T	+	1	0	FAM83B	54914465	0.005000	0.15991	0.021000	0.16686	0.033000	0.12548	-0.014000	0.12656	0.552000	0.29026	0.533000	0.62120	ACT		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		20	45	20	45	---	---	---	---	G	54806506	A	G	54806506	3	3	331	1	0	0	0	0	1	0	0	0	5634	391	14	2	2751	2	FAM83B	6	54806506	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	8147751	54806506	116308561	17	11856										
MUC17	140453	broad.mit.edu	37	chr7	100679721	100679721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cagttcatctcctacacctgCtgaaggtaccagcatgccaa	7	14	2	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:100679721C>A	ENST00000306151.4	+	3	5088	c.5024C>A	c.(5023-5025)gCt>gAt	p.A1675D		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>gAt		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>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.5024C>A	7.37:g.100679721C>A	ENSP00000302716:p.Ala1675Asp		Somatic					p.A1675D	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	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>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.979	-0.006857	0.07773	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	0.932	0.932	0.19466	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.45538	0.484	T	0.47407	-0.9120	9	0.12766	T	0.61	.	5.3368	0.15961	0.0:1.0:0.0:0.0	.	1675	Q685J3	MUC17_HUMAN	D	1675	ENSP00000302716:A1675D	ENSP00000302716:A1675D	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		61	186	61	186	---	---	---	---	A	100679721	C	A	100679721	3	1	331	1	0	0	0	0	1	0	0	0	9974	797	28	3	5034	3	MUC17	7	100679721	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		100679721	58458942	18	11857										
BRAF	673	broad.mit.edu	37	chr7	140481405	140481405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttcccttgtagactgttccaAatgatccagatccaattctt	5	11	1	3	rs397507473		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:140481405A>C	ENST00000288602.6	-	11	1463	c.1403T>G	c.(1402-1404)tTt>tGt	p.F468C		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		F -> S (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:18042262}.		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.F468S(1)|p.F468C(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)	GACTGTTCCAAATGATCCAGA	0.378		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)	2	Substitution - Missense(2)	p.F468S(1)|p.F468C(1)	large_intestine(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	GRCh37	CM060881	BRAF	M		c.(1402-1404)tTt>tGt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						172	148	156					7																	140481405		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.chr7:140481405A>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.1403T>G	7.37:g.140481405A>C	ENSP00000288602:p.Phe468Cys		Somatic					p.F468C	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			11	1463	-	Melanoma(164;0.00956)		468		F -> S (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1403T>G	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.370078|4.370078	0.82573|0.82573	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.89681|.	-2.55|.	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);|.	0.095786|.	0.85682|.	D|.	0.000000|.	T|T	0.74261|0.74261	0.3693|0.3693	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.68621|.	0.959|.	T|T	0.75124|0.75124	-0.3428|-0.3428	10|5	0.87932|.	D|.	0|.	.|.	14.394|14.394	0.66999|0.66999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	468|.	P15056|.	BRAF_HUMAN|.	C|V	468|76	ENSP00000288602:F468C|.	ENSP00000288602:F468C|.	F|L	-|-	2|1	0|2	BRAF|BRAF	140127874|140127874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.130000|2.130000	0.65690|0.65690	0.477000|0.477000	0.44152|0.44152	TTT|TTG		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		12	57	12	57	---	---	---	---	C	140481405	A	C	140481405	3	2	331	1	0	0	0	0	1	0	0	0	1496	14	1	5	929	5	BRAF	7	140481405	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	39801684	140481405	18657258	19	11858										
MLL3	58508	broad.mit.edu	37	chr7	151860195	151860195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ggtgaattaattgatccttgTtgtatattctgctgctgtaa	9	5	1	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr7:151860195T>C	ENST00000262189.6	-	43	10685	c.10467A>G	c.(10465-10467)caA>caG	p.Q3489Q	KMT2C_ENST00000355193.2_Silent_p.Q3489Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3489	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)										TTGATCCTTGTTGTATATTCT	0.463																																						ENST00000355193.2																			0											c.(10465-10467)caA>caG		lysine (K)-specific methyltransferase 2C							138	138	138					7																	151860195		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151860195T>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.10467A>G	7.37:g.151860195T>C			Somatic				KMT2C_ENST00000262189.6_Silent_p.Q3489Q	p.Q3489Q			WXS	Illumina GAIIx	Phase_I					43	10685	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.10467A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438485	0.01098	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.18	-1.38	0.09027	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62642	-0.6811	4	.	.	.	.	13.3897	0.60816	0.0:0.6422:0.0:0.3578	.	.	.	.	A	995	.	.	T	-	1	0	MLL3	151491128	0.977000	0.34250	0.014000	0.15608	0.015000	0.08874	0.004000	0.13106	-0.244000	0.09639	-0.408000	0.06270	ACA		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			28	96	28	96	---	---	---	---	C	151860195	T	C	151860195	2	2	331	1	0	0	0	0	0	0	0	1	9622	1722	60	2		2	MLL3	7	151860195	Silent	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	11378790	151860195	7278468	20	11859										
GLE1	2733	broad.mit.edu	37	chr9	131296231	131296231	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gctttggaagactatcagagGtaaagttgtttttctcccta	9	7	2	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr9:131296231G>A	ENST00000309971.4	+	11	1752		c.e11+1		GLE1_ENST00000372770.4_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator						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						ACTATCAGAGGTAAAGTTGTT	0.398																																						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.e11+1		GLE1 RNA export mediator							120	110	114					9																	131296231		2203	4300	6503	SO:0001630	splice_region_variant	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131296231G>A	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.1646+1G>A	9.37:g.131296231G>A			Somatic				GLE1_ENST00000372770.4_Splice_Site|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA		NM_001003722.1	NP_001003722.1	WXS	Illumina GAIIx	Phase_I	Q53GS7	GLE1_HUMAN			11	1752	+								O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Splice_Site	SNP	ENST00000309971.4	37		CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742607	0.89573	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLE1	130336052	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.370000	0.97159	2.756000	0.94617	0.561000	0.74099	.		0.398	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Intron	24	43	24	43	---	---	---	---	A	131296231	G	A	131296231	5	1	331	1	0	0	0	0	0	0	1	0	6435	1275	44	2	1689	2	GLE1	9	131296231	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		131296231	9917200	21	11860										
PFKP	5214	broad.mit.edu	37	chr10	3177927	3177927	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cttttttaaaatcttttataGgaaaaaaatttaccaccgat	3	6	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:3177927G>A	ENST00000381125.4	+	21	2198		c.e21-1		PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Splice_Site|PFKP_ENST00000381072.1_Splice_Site	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						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)		ATCTTTTATAGGAAAAAAATT	0.408																																						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.e23-1		phosphofructokinase, platelet							44	47	46					10																	3177927		2203	4300	6503	SO:0001630	splice_region_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3177927G>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.2123-1G>A	10.37:g.3177927G>A			Somatic				PFKP_ENST00000381072.1_Splice_Site|PFKP_ENST00000381125.4_Splice_Site		NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	23	2322	+								B3KS15|Q5VSR7|Q5VSR8	Splice_Site	SNP	ENST00000381125.4	37		CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856998	0.51376	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072;ENST00000433193	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7878	0.91961	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKP	3167927	1.000000	0.71417	0.208000	0.23602	0.048000	0.14542	6.507000	0.73717	2.423000	0.82170	0.563000	0.77884	.		0.408	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627	Intron	11	44	11	44	---	---	---	---	A	3177927	G	A	3177927	5	1	331	1	0	0	0	0	0	0	1	0	11766	1014	35	2	2204	2	PFKP	10	3177927	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		3177927	132356820	22	11861										
ANUBL1	93550	broad.mit.edu	37	chr10	46113586	46113586	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cttctccagctcgccaacctGcctgcattcgtagctactag	7	16	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr10:46113586G>C	ENST00000344646.5	-	9	2264		c.e9+1		ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site|ZFAND4_ENST00000374366.3_Splice_Site	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4								zinc ion binding (GO:0008270)										TCGCCAACCTGCCTGCATTCG	0.408																																						ENST00000374366.3																			0											c.e10+1		zinc finger, AN1-type domain 4							66	67	67					10																	46113586		2203	4300	6503	SO:0001630	splice_region_variant	93550						zinc ion binding	g.chr10:46113586G>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2048+1C>G	10.37:g.46113586G>C			Somatic				ZFAND4_ENST00000344646.5_Splice_Site|ZFAND4_ENST00000374371.2_Splice_Site|ZFAND4_ENST00000374370.1_Splice_Site		NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	WXS	Illumina GAIIx	Phase_I	Q86XD8	ANUB1_HUMAN			10	2292	-								A8K8V4|B2RAX2|Q5VVY5	Splice_Site	SNP	ENST00000344646.5	37		CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544099	0.65198	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	.	.	.	5.99	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1247	0.59346	0.077:0.0:0.923:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANUBL1	45433592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.003000	0.57061	1.538000	0.49270	0.655000	0.94253	.		0.408	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	Intron	12	29	12	29	---	---	---	---	C	46113586	G	C	46113586	5	2	331	1	0	0	0	0	0	0	1	0	713	1333	46	4	141	4	ANUBL1	10	46113586	Splice_Site	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	42935659	46113586	89421161	23	11862										
PCF11	51585	broad.mit.edu	37	chr11	82877752	82877752	+	Frame_Shift_Del	DEL	A	A	-													0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	aatctggttgggaagaaaatAaaaggtatgatgttaacatt							TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:82877752delA	ENST00000298281.4	+	5	2265	c.1813delA	c.(1813-1815)aaafs	p.K605fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	605					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						GGAAGAAAATAAAAGGTATGA	0.323																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1813-1815)aaafs		PCF11 cleavage and polyadenylation factor subunit							72	76	75					11																	82877752		1667	3595	5262	SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877752delA	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.1813delA	11.37:g.82877752delA	ENSP00000298281:p.Lys605fs		Somatic					p.K605fs	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			5	2265	+			605					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.1813delA	CCDS44689.1																																																																																				0.323	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		21	49	21	49	---	---	---	---	-	82877752	A	-	82877752	7	5	331	1	0	1	0	1	0	0	0	0	11573	363	13	0	1831	0	PCF11	11	82877752	Frame_Shift_Del	DEL	A	TCGA-ZG-A8QY-01A-11D-A377-08		82877752	52128764	24	11863										
DLG2	1740	broad.mit.edu	37	chr11	83676415	83676427	+	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TGGGTTTGCCAAC	-													0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	atcagtcatataaatggtagTgggtttgccaacttttaaat					rs569113405|rs144952538		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:83676415_83676427delTGGGTTTGCCAAC	ENST00000532653.1	-	8	1128_1140	c.826_838delGTTGGCAAACCCA	c.(826-840)gttggcaaacccactfs	p.VGKPT276fs	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs|DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000398309.2_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	239	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)				TAAATGGTAGTGGGTTTGCCAACTTTTAAATAA	0.371																																						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.(826-840)gttggcaaacccactfs		discs, large homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83676415_83676427delTGGGTTTGCCAAC	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.826_838delGTTGGCAAACCCA	11.37:g.83676415_83676427delTGGGTTTGCCAAC	ENSP00000435849:p.Val276fs		Somatic				DLG2_ENST00000524982.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000280241.8_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000376104.2_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000543673.1_Frame_Shift_Del_p.VGKPT381fs|DLG2_ENST00000418306.2_Frame_Shift_Del_p.VGKPT225fs|DLG2_ENST00000398301.2_Frame_Shift_Del_p.VGKPT315fs|DLG2_ENST00000537455.1_Frame_Shift_Del_p.VGKPT30fs|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Frame_Shift_Del_p.VGKPT276fs|DLG2_ENST00000531015.1_Frame_Shift_Del_p.VGKPT243fs|DLG2_ENST00000330014.6_Frame_Shift_Del_p.VGKPT215fs	p.VGKPT276fs	NM_001364.3	NP_001355.2	WXS	Illumina GAIIx	Phase_I	Q15700	DLG2_HUMAN			8	1296_1308	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	276			PDZ 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Frame_Shift_Del	DEL	ENST00000532653.1	37	c.826_838delGTTGGCAAACCCA																																																																																					0.371	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		12	82	12	82	---	---	---	---	-	83676427	TGGGTTTGCCAAC	-	83676415	7	5	331	1	0	1	0	1	0	0	0	0	4555	1696	59	0	1888	0	DLG2	11	83676415	Frame_Shift_Del	DEL	TGGGTTTGCCAAC	TCGA-ZG-A8QY-01A-11D-A377-08	798663	83676415	51330101	25	11864										
DDX6	1656	broad.mit.edu	37	chr11	118635928	118635928	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	atttcttacctgtatcatcaAgcctcattatgtcatctcgt	4	11	6	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr11:118635928A>C	ENST00000526070.2	-	6	995	c.635T>G	c.(634-636)cTt>cGt	p.L212R	DDX6_ENST00000264018.4_Missense_Mutation_p.L212R|DDX6_ENST00000534980.1_Missense_Mutation_p.L212R	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	212	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)		TGTATCATCAAGCCTCATTAT	0.368			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.(634-636)cTt>cGt		DEAD (Asp-Glu-Ala-Asp) box helicase 6							347	337	340					11																	118635928		1873	4109	5982	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.chr11:118635928A>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.635T>G	11.37:g.118635928A>C	ENSP00000433704:p.Leu212Arg		Somatic				DDX6_ENST00000534980.1_Missense_Mutation_p.L212R|DDX6_ENST00000526070.2_Missense_Mutation_p.L212R	p.L212R	NM_004397.4	NP_004388.2	WXS	Illumina GAIIx	Phase_I	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	6	940	-	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)	212			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.635T>G	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537608	0.85917	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.22743	1.94;1.94;1.94	5.7	5.7	0.88788	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.110302	0.64402	D	0.000006	T	0.55497	0.1924	M	0.91459	3.21	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.66528	-0.5901	10	0.87932	D	0	.	15.6892	0.77436	1.0:0.0:0.0:0.0	.	212	P26196	DDX6_HUMAN	R	212	ENSP00000264018:L212R;ENSP00000442266:L212R;ENSP00000433704:L212R	ENSP00000264018:L212R	L	-	2	0	DDX6	118141138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.327000	0.96396	2.177000	0.69029	0.524000	0.50904	CTT		0.368	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		62	166	62	166	---	---	---	---	C	118635928	A	C	118635928	3	2	331	1	0	0	0	0	1	0	0	0	4377	72	3	5	848	5	DDX6	11	118635928	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	34959513	118635928	16370588	26	11865										
DCN	1634	broad.mit.edu	37	chr12	91572146	91572146	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	agaacactggaccactcgaaGatggcattgacagcggaagg	13	9	0	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:91572146G>T	ENST00000052754.5	-	2	685	c.184C>A	c.(184-186)Ctt>Att	p.L62I	DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000551354.1_Missense_Mutation_p.L62I|DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	62	Cys-rich.				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						ACCACTCGAAGATGGCATTGA	0.512											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551354.1																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(184-186)Ctt>Att		decorin							151	143	146					12																	91572146		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91572146G>T	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.184C>A	12.37:g.91572146G>T	ENSP00000052754:p.Leu62Ile		Somatic	OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283	DCN_ENST00000546745.1_Missense_Mutation_p.L62I|DCN_ENST00000547568.2_Missense_Mutation_p.L62I|DCN_ENST00000546370.1_Missense_Mutation_p.L62I|DCN_ENST00000303320.3_Missense_Mutation_p.L62I|DCN_ENST00000456569.2_Missense_Mutation_p.L62I|DCN_ENST00000552962.1_Missense_Mutation_p.L62I|DCN_ENST00000425043.1_Missense_Mutation_p.L62I|DCN_ENST00000441303.2_Missense_Mutation_p.L62I|DCN_ENST00000550099.1_Missense_Mutation_p.L62I|DCN_ENST00000393155.1_Missense_Mutation_p.L62I|DCN_ENST00000420120.2_Missense_Mutation_p.L62I|DCN_ENST00000228329.5_Missense_Mutation_p.L62I|DCN_ENST00000052754.5_Missense_Mutation_p.L62I	p.L62I			WXS	Illumina GAIIx	Phase_I	P07585	PGS2_HUMAN			2	388	-			62			Cys-rich.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.184C>A	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838076	0.91117	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;T;D;T;D;T;T;D;D;D;D;T;T;T;D;D;D;D;D	0.96491	3.15;3.15;-4.03;3.15;-4.03;3.15;3.15;-4.03;-4.03;-4.03;-4.03;3.15;3.15;3.15;-4.03;-4.03;-4.03;-4.03;-4.03	5.91	5.01	0.66863	Leucine-rich repeat-containing N-terminal (2);	0.115675	0.64402	N	0.000010	D	0.96636	0.8902	L	0.48260	1.515	0.27221	N	0.959656	B;D;D;B;B	0.63880	0.085;0.979;0.993;0.017;0.028	P;P;P;B;B	0.62813	0.497;0.801;0.907;0.056;0.053	D	0.92434	0.5956	10	0.26408	T	0.33	.	16.1928	0.82004	0.0:0.0:0.8589:0.1411	.	62;62;62;62;62	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	I	62	ENSP00000052754:L62I;ENSP00000228329:L62I;ENSP00000302031:L62I;ENSP00000376862:L62I;ENSP00000401021:L62I;ENSP00000447654:L62I;ENSP00000413723:L62I;ENSP00000399815:L62I;ENSP00000447674:L62I;ENSP00000446530:L62I;ENSP00000398514:L62I;ENSP00000449782:L62I;ENSP00000447886:L62I;ENSP00000449014:L62I;ENSP00000449438:L62I;ENSP00000446527:L62I;ENSP00000448857:L62I;ENSP00000448057:L62I;ENSP00000448274:L62I	ENSP00000052754:L62I	L	-	1	0	DCN	90096277	1.000000	0.71417	0.962000	0.40283	0.834000	0.47266	5.150000	0.64869	1.470000	0.48102	0.460000	0.39030	CTT		0.512	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		22	58	22	58	---	---	---	---	T	91572146	G	T	91572146	3	4	331	1	0	0	0	0	1	0	0	0	4297	942	33	3	923	3	DCN	12	91572146	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		91572146	42279749	27	11866										
SLC17A8	246213	broad.mit.edu	37	chr12	100811862	100811862	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tatgccagcattctcatgggGatctcaaacggagtgggaac	12	9	2	0	rs145178639	byFrequency	TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:100811862G>T	ENST00000323346.5	+	11	1666	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	451					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						TTCTCATGGGGATCTCAAACG	0.488																																						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.(1351-1353)ggG>ggT		solute carrier family 17 (vesicular glutamate transporter), member 8							179	164	169					12																	100811862		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:100811862G>T	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.1353G>T	12.37:g.100811862G>T			Somatic				SLC17A8_ENST00000392989.3_Silent_p.G401G|SLC17A8_ENST00000552697.1_3'UTR	p.G451G	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	WXS	Illumina GAIIx	Phase_I	Q8NDX2	VGLU3_HUMAN			11	1666	+			451					B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1353G>T	CCDS9077.1																																																																																				0.488	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		25	103	25	103	---	---	---	---	T	100811862	G	T	100811862	2	4	331	1	0	0	0	0	0	0	0	1	14423	1161	41	3		3	SLC17A8	12	100811862	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	9239716	100811862	33040033	28	11867										
BTBD11	121551	broad.mit.edu	37	chr12	107914363	107914363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cagccagtcggagctgaggaCcatcgagcagtctttgctgg	14	11	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr12:107914363C>A	ENST00000280758.5	+	2	1763	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						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						GAGCTGAGGACCATCGAGCAG	0.562																																						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.(1234-1236)aCc>aAc		BTB (POZ) domain containing 11							140	125	130					12																	107914363		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107914363C>A	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.1235C>A	12.37:g.107914363C>A	ENSP00000280758:p.Thr412Asn		Somatic				BTBD11_ENST00000420571.2_Missense_Mutation_p.T412N|BTBD11_ENST00000490090.2_Missense_Mutation_p.T412N	p.T412N	NM_001018072.1	NP_001018082.1	WXS	Illumina GAIIx	Phase_I	A6QL63	BTBDB_HUMAN			2	1763	+			412					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1235C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413366	0.62511	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	3.97	3.97	0.46021	.	0.586122	0.17109	N	0.186675	T	0.62085	0.2399	M	0.64404	1.975	0.80722	D	1	P;P;D	0.60575	0.932;0.48;0.988	P;B;P	0.57548	0.66;0.083;0.823	T	0.68051	-0.5511	10	0.72032	D	0.01	.	16.9431	0.86223	0.0:1.0:0.0:0.0	.	412;412;412	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	N	412;412;412;46	ENSP00000280758:T412N;ENSP00000413889:T412N;ENSP00000447319:T412N;ENSP00000407416:T46N	ENSP00000280758:T412N	T	+	2	0	BTBD11	106438493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	2.159000	0.67721	0.561000	0.74099	ACC		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		13	52	13	52	---	---	---	---	A	107914363	C	A	107914363	3	1	331	1	0	0	0	0	1	0	0	0	1539	507	18	3	1241	3	BTBD11	12	107914363	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	7102501	107914363	25937532	29	11868										
SACS	26278	broad.mit.edu	37	chr13	23914995	23914995	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	acataagctgtgttacctctTcatgtgaataaaatgcattt	6	7	2	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr13:23914995T>A	ENST00000382292.3	-	9	3293	c.3020A>T	c.(3019-3021)gAa>gTa	p.E1007V	SACS_ENST00000382298.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1007					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)		TGTTACCTCTTCATGTGAATA	0.328																																						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.(3019-3021)gAa>gTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							109	111	110					13																	23914995		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.chr13:23914995T>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.3020A>T	13.37:g.23914995T>A	ENSP00000371729:p.Glu1007Val		Somatic				SACS_ENST00000382292.3_Missense_Mutation_p.E1007V|SACS_ENST00000402364.1_Missense_Mutation_p.E257V	p.E1007V	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3608	-		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)	1007					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3020A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.88	3.245287	0.59103	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.23;-2.38;-2.23	6.05	4.85	0.62838	.	0.285113	0.39834	N	0.001254	D	0.82783	0.5112	L	0.32530	0.975	0.38320	D	0.943493	B	0.28419	0.211	B	0.25140	0.058	T	0.80269	-0.1453	10	0.41790	T	0.15	.	12.676	0.56895	0.1238:0.0:0.0:0.8762	.	1007	Q9NZJ4	SACS_HUMAN	V	1007;257;1007	ENSP00000371729:E1007V;ENSP00000385844:E257V;ENSP00000371735:E1007V	ENSP00000371729:E1007V	E	-	2	0	SACS	22812995	1.000000	0.71417	0.904000	0.35570	0.983000	0.72400	4.873000	0.63057	1.078000	0.41014	0.528000	0.53228	GAA		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	100	29	100	---	---	---	---	A	23914995	T	A	23914995	3	1	331	1	0	0	0	0	1	0	0	0	13804	1783	62	5	10723	5	SACS	13	23914995	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		23914995	91254883	30	11869										
KIAA0831	22863	broad.mit.edu	37	chr14	55844786	55844786	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttgcttagattttcgccacaAaattcactgtaaaacaaaca	4	9	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:55844786A>G	ENST00000247178.5	-	8	1037	c.1002T>C	c.(1000-1002)ttT>ttC	p.F334F		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	334					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						TTTCGCCACAAAATTCACTGT	0.289																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(1000-1002)ttT>ttC		autophagy related 14							57	60	59					14																	55844786		2203	4294	6497	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55844786A>G	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.1002T>C	14.37:g.55844786A>G			Somatic					p.F334F	NM_014924.4	NP_055739.2	WXS	Illumina GAIIx	Phase_I	Q6ZNE5	BAKOR_HUMAN			8	1037	-			334					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.1002T>C	CCDS32087.1																																																																																				0.289	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		8	34	8	34	---	---	---	---	G	55844786	A	G	55844786	2	3	331	1	0	0	0	0	0	0	0	1	8195	11	1	2		2	KIAA0831	14	55844786	Silent	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08		55844786	51504754	31	11870										
C14orf4	64207	broad.mit.edu	37	chr14	77492213	77492213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gagtgcacggaactgccatcCttgggcgagtgcgctgtgcc	15	12	0	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr14:77492213C>A	ENST00000238647.3	-	1	2821	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	641					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AACTGCCATCCTTGGGCGAGT	0.682																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1921-1923)aaG>aaT		interferon regulatory factor 2 binding protein-like							16	15	15					14																	77492213		2168	4242	6410	SO:0001583	missense	64207					nucleus		g.chr14:77492213C>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1923G>T	14.37:g.77492213C>A	ENSP00000238647:p.Lys641Asn		Somatic					p.K641N	NM_024496.3	NP_078772.1	WXS	Illumina GAIIx	Phase_I	Q9H1B7	I2BPL_HUMAN			1	2821	-			641					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1923G>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303424	0.60195	.	.	ENSG00000119669	ENST00000238647	T	0.66460	-0.21	4.3	3.41	0.39046	.	0.000000	0.85682	U	0.000000	T	0.63212	0.2492	L	0.57536	1.79	0.49582	D	0.999807	P	0.38617	0.64	B	0.41088	0.347	T	0.61884	-0.6971	10	0.39692	T	0.17	.	10.8469	0.46748	0.0:0.9075:0.0:0.0925	.	641	Q9H1B7	I2BPL_HUMAN	N	641	ENSP00000238647:K641N	ENSP00000238647:K641N	K	-	3	2	IRF2BPL	76561966	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.751000	0.26348	1.014000	0.39417	0.462000	0.41574	AAG		0.682	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		7	26	7	26	---	---	---	---	A	77492213	C	A	77492213	3	1	331	1	0	0	0	0	1	0	0	0	1773	680	24	1	471	1	C14orf4	14	77492213	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08	21647427	77492213	29857327	32	11871										
PAK6	56924	broad.mit.edu	37	chr15	40558520	40558520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	agcatggctctgaggaggccCggccacagtcctgcctggtg	15	13	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:40558520C>T	ENST00000542403.2	+	3	793	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	228	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGAGGAGGCCCGGCCACAGTC	0.672																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(682-684)Cgg>Tgg		p21 protein (Cdc42/Rac)-activated kinase 6																																				SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558520C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.682C>T	15.37:g.40558520C>T	ENSP00000439597:p.Arg228Trp		Somatic				PAK6_ENST00000441369.1_Missense_Mutation_p.R228W|PAK6_ENST00000453867.1_Missense_Mutation_p.R228W|PAK6_ENST00000542403.2_Missense_Mutation_p.R228W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.R228W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R228W	p.R228W	NM_001276718.1	NP_001263647.1	WXS	Illumina GAIIx	Phase_I	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1594	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	228			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.682C>T	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371753	0.82573	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74315	-0.79;-0.79;-0.83;-0.79;-0.79	5.48	4.51	0.55191	.	0.244906	0.39083	N	0.001463	T	0.54351	0.1853	N	0.12182	0.205	0.47308	D	0.999389	B;B	0.24132	0.013;0.098	B;B	0.18871	0.005;0.023	T	0.56183	-0.8021	10	0.59425	D	0.04	.	9.0271	0.36236	0.1498:0.7677:0.0:0.0825	.	228;228	Q9NQU5;G5E9R2	PAK6_HUMAN;.	W	228	ENSP00000406873:R228W;ENSP00000401153:R228W;ENSP00000409465:R228W;ENSP00000260404:R228W;ENSP00000439597:R228W	ENSP00000260404:R228W	R	+	1	2	PAK6	38345812	0.940000	0.31905	1.000000	0.80357	0.989000	0.77384	1.790000	0.38734	2.590000	0.87494	0.561000	0.74099	CGG		0.672	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			6	15	6	15	---	---	---	---	T	40558520	C	T	40558520	3	4	331	1	0	0	0	0	1	0	0	0	11404	643	23	2	688	2	PAK6	15	40558520	Missense_Mutation	SNP	C	TCGA-ZG-A8QY-01A-11D-A377-08		40558520	61972872	33	11872										
SV2B	9899	broad.mit.edu	37	chr15	91827401	91827401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cctgtctgtcttacccgggaAcatcatttctgccctgctca	7	15	5	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr15:91827401A>G	ENST00000394232.1	+	11	2128	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	553					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)			TTACCCGGGAACATCATTTCT	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.(1657-1659)aAc>aGc		synaptic vesicle glycoprotein 2B							122	109	114					15																	91827401		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827401A>G	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.1658A>G	15.37:g.91827401A>G	ENSP00000377779:p.Asn553Ser		Somatic				SV2B_ENST00000545111.2_Missense_Mutation_p.N402S|SV2B_ENST00000330276.4_Missense_Mutation_p.N553S	p.N553S	NM_014848.4	NP_055663.1	WXS	Illumina GAIIx	Phase_I	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	2128	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		553					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1658A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.652900	0.88056	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.55760	0.5;0.5;0.5	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	0.71358	0.3330	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69011	-0.5258	10	0.21014	T	0.42	-29.7925	15.0605	0.71947	1.0:0.0:0.0:0.0	.	553	Q7L1I2	SV2B_HUMAN	S	402;553;553	ENSP00000443243:N402S;ENSP00000377779:N553S;ENSP00000332818:N553S	ENSP00000332818:N553S	N	+	2	0	SV2B	89628405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.039000	0.93777	2.238000	0.73509	0.477000	0.44152	AAC		0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		22	85	22	85	---	---	---	---	G	91827401	A	G	91827401	3	3	331	1	0	0	0	0	1	0	0	0	15415	43	2	2	1696	2	SV2B	15	91827401	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	51268881	91827401	10703991	34	11873										
A2BP1	54715	broad.mit.edu	37	chr16	7568326	7568326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cattaaacctgtaccctcccGcccagacgcactccgagcag	7	18	0	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:7568326G>A	ENST00000550418.1	+	5	1193	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A74T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	69					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.A89T(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						GTACCCTCCCGCCCAGACGCA	0.642																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			2	Substitution - Missense(2)	p.A89T(2)	large_intestine(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.(220-222)Gcc>Acc		RNA binding protein, fox-1 homolog (C. elegans) 1							114	108	110					16																	7568326		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.chr16:7568326G>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.205G>A	16.37:g.7568326G>A	ENSP00000450031:p.Ala69Thr		Somatic				RBFOX1_ENST00000550418.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A105T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A112T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A89T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A89T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A69T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A89T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A112T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A105T	p.A74T			WXS	Illumina GAIIx	Phase_I	Q9NWB1	RFOX1_HUMAN			2	517	+			69					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.220G>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555922	0.27827	.	.	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	0.33654	1.88;1.41;1.72;1.63;1.65;1.82;1.41;1.51;1.72;1.67;1.4	4.67	3.71	0.42584	.	0.140569	0.47093	N	0.000258	T	0.13884	0.0336	N	0.12569	0.235	0.42711	D	0.993641	B;P;B;B;B;B;B;B;B	0.43314	0.021;0.803;0.084;0.093;0.002;0.045;0.0;0.0;0.183	B;B;B;B;B;B;B;B;B	0.25884	0.007;0.064;0.007;0.025;0.006;0.013;0.002;0.001;0.025	T	0.09228	-1.0684	10	0.21540	T	0.41	-4.6637	9.3326	0.38032	0.1769:0.0:0.8231:0.0	.	89;105;112;89;89;89;69;69;112	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	69;69;69;112;112;105;105;69;69;89;89;89;89;74	ENSP00000450402:A69T;ENSP00000450031:A69T;ENSP00000447753:A69T;ENSP00000446842:A112T;ENSP00000391269:A112T;ENSP00000447281:A69T;ENSP00000447717:A69T;ENSP00000402745:A89T;ENSP00000309117:A89T;ENSP00000347855:A89T;ENSP00000344196:A74T	ENSP00000309117:A89T	A	+	1	0	RBFOX1	7508327	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.754000	0.55189	0.920000	0.36970	0.557000	0.71058	GCC		0.642	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		36	103	36	103	---	---	---	---	A	7568326	G	A	7568326	3	1	331	1	0	0	0	0	1	0	0	0	3	1087	38	2	302	2	A2BP1	16	7568326	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		7568326	82786427	35	11874										
SF3B3	23450	broad.mit.edu	37	chr16	70602298	70602298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gcgtaatgaaaaccagcttaTcatctttgctgatgatacct	7	9	2	3			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:70602298T>C	ENST00000302516.5	+	22	3276	c.3065T>C	c.(3064-3066)aTc>aCc	p.I1022T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1022					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)				AACCAGCTTATCATCTTTGCT	0.468																																						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.(3064-3066)aTc>aCc		splicing factor 3b, subunit 3, 130kDa							160	146	151					16																	70602298		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.chr16:70602298T>C	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.3065T>C	16.37:g.70602298T>C	ENSP00000305790:p.Ile1022Thr		Somatic					p.I1022T	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			22	3276	+		Ovarian(137;0.0694)	1022					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3065T>C	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371605	0.61624	.	.	ENSG00000189091	ENST00000302516	T	0.46063	0.88	5.92	5.92	0.95590	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.049098	0.85682	D	0.000000	T	0.41190	0.1148	L	0.52905	1.665	0.80722	D	1	B	0.20887	0.049	B	0.27715	0.082	T	0.26780	-1.0093	10	0.13853	T	0.58	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	1022	Q15393	SF3B3_HUMAN	T	1022	ENSP00000305790:I1022T	ENSP00000305790:I1022T	I	+	2	0	SF3B3	69159799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.884000	0.87274	2.255000	0.74692	0.533000	0.62120	ATC		0.468	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		28	66	28	66	---	---	---	---	C	70602298	T	C	70602298	3	2	331	1	0	0	0	0	1	0	0	0	14152	1435	50	2	3147	2	SF3B3	16	70602298	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	63033972	70602298	19752455	36	11875										
APRT	353	broad.mit.edu	37	chr16	88878005	88878005	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	gggtcgccttcaggtgtcgcGccaggaggccgatggcggcg	19	12	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr16:88878005G>C	ENST00000378364.3	-	2	184	c.140C>G	c.(139-141)gCg>gGg	p.A47G	APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	47					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)	CAGGTGTCGCGCCAGGAGGCC	0.721																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(139-141)gCg>gGg		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						10	9	9					16																	88878005		2125	4204	6329	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88878005G>C		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		ENST00000378364.3:c.140C>G	16.37:g.88878005G>C	ENSP00000367615:p.Ala47Gly		Somatic				APRT_ENST00000426324.2_Missense_Mutation_p.A47G|APRT_ENST00000563655.1_Missense_Mutation_p.A47G	p.A47G	NM_000485.2	NP_000476.1	WXS	Illumina GAIIx	Phase_I	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	184	-			47					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.140C>G	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257254	0.59321	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99660	-6.32;-6.32	4.77	3.74	0.42951	Phosphoribosyltransferase (1);	0.205916	0.39210	N	0.001423	D	0.99190	0.9719	M	0.79614	2.46	0.39828	D	0.972921	P;P	0.50369	0.81;0.934	P;P	0.53988	0.648;0.739	D	0.99032	1.0821	10	0.87932	D	0	-13.5747	7.1918	0.25831	0.0:0.1573:0.5715:0.2712	.	47;47	G5E9J2;P07741	.;APT_HUMAN	G	47	ENSP00000367615:A47G;ENSP00000397007:A47G	ENSP00000367615:A47G	A	-	2	0	APRT	87405506	0.998000	0.40836	0.904000	0.35570	0.377000	0.30045	3.107000	0.50329	2.194000	0.70268	0.313000	0.20887	GCG		0.721	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	7	4	7	---	---	---	---	C	88878005	G	C	88878005	3	2	331	1	0	0	0	0	1	0	0	0	819	1087	38	4	418	4	APRT	16	88878005	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	18275707	88878005	1476748	37	11876										
GLOD4	51031	broad.mit.edu	37	chr17	663460	663460	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tttggcaaaccactcgtcacTtttatctgctgccattgcct	6	13	2	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:663460T>A	ENST00000301328.5	-	10	918	c.895A>T	c.(895-897)Agt>Tgt	p.S299C	GLOD4_ENST00000575800.1_5'Flank|GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301329.6_Missense_Mutation_p.S284C			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	299						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACTCGTCACTTTTATCTGCT	0.428																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(850-852)Agt>Tgt		glyoxalase domain containing 4							192	157	169					17																	663460		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:663460T>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.895A>T	17.37:g.663460T>A	ENSP00000301328:p.Ser299Cys		Somatic				GLOD4_ENST00000536578.1_Missense_Mutation_p.S275C|GLOD4_ENST00000301328.5_Missense_Mutation_p.S299C	p.S284C	NM_016080.3	NP_057164.3	WXS	Illumina GAIIx	Phase_I	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	935	-			299					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.850A>T		.	.	.	.	.	.	.	.	.	.	T	31	5.083184	0.94050	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.55588	0.52;0.52;0.51	6.02	6.02	0.97574	.	0.072810	0.85682	D	0.000000	T	0.77987	0.4213	M	0.90483	3.12	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	0.82418	-0.0467	10	0.66056	D	0.02	-18.6634	15.7258	0.77756	0.0:0.0:0.0:1.0	.	275;299;284	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	284;487;299;275	ENSP00000301329:S284C;ENSP00000301328:S299C;ENSP00000444315:S275C	ENSP00000301328:S299C	S	-	1	0	GLOD4	610210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.708000	0.84633	2.311000	0.77944	0.533000	0.62120	AGT		0.428	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		18	48	18	48	---	---	---	---	A	663460	T	A	663460	3	1	331	1	0	0	0	0	1	0	0	0	6450	1609	56	5	50	5	GLOD4	17	663460	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		663460	80531750	38	11877										
KDM6B	23135	broad.mit.edu	37	chr17	7753140	7753146	+	Splice_Site	DEL	AATGCCA	AATGCCA	-													0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttccactgtcctcccgcaggAatgccaaggtgaaagggaag							TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:7753140_7753146delAATGCCA	ENST00000448097.2	+	12	3773_3779	c.3442_3448delAATGCCA	c.(3442-3450)aatgccaag>ag	p.NAK1148fs	KDM6B_ENST00000254846.5_Splice_Site_p.NAK1148fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1148					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						CTCCCGCAGGAATGCCAAGGTGAAAGG	0.565																																						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.(3442-3450)aatgccaag>ag		lysine (K)-specific demethylase 6B																																				SO:0001630	splice_region_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.chr17:7753140_7753146delAATGCCA	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.3441-1AATGCCA>-	17.37:g.7753140_7753146delAATGCCA			Somatic				KDM6B_ENST00000448097.2_Splice_Site_p.NAK1148fs	p.NAK1148fs	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			12	3831_3837	+			1148					C9IZ40|Q96G33	Splice_Site	DEL	ENST00000448097.2	37	c.3442_3448delAATGCCA																																																																																					0.565	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	Frame_Shift_Del	27	88	27	88	---	---	---	---	-	7753146	AATGCCA	-	7753140	8	5	331	1	0	1	0	1	0	0	1	0	8138	260	9	0	3476	0	KDM6B	17	7753140	Splice_Site	DEL	AATGCCA	TCGA-ZG-A8QY-01A-11D-A377-08	7089680	7753140	73442070	39	11878										
DHRS7C	201140	broad.mit.edu	37	chr17	9676090	9676090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ctctgaagtctcacatttccAaatggaagcttcccagtttc	6	12	2	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:9676090A>G	ENST00000330255.5	-	5	736	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	242					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCACATTTCCAAATGGAAGCT	0.557																																						ENST00000330255.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(724-726)Tgg>Cgg		dehydrogenase/reductase (SDR family) member 7C							66	70	69					17																	9676090		2006	4202	6208	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676090A>G		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.724T>C	17.37:g.9676090A>G	ENSP00000327975:p.Trp242Arg		Somatic				DHRS7C_ENST00000571134.1_Missense_Mutation_p.W241R	p.W242R	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	WXS	Illumina GAIIx	Phase_I	A6NNS2	DRS7C_HUMAN			5	736	-								B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.724T>C	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379989	0.42207	.	.	ENSG00000184544	ENST00000330255	D	0.86030	-2.06	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.887861	0.10290	N	0.692442	T	0.81654	0.4868	L	0.43152	1.355	0.44188	D	0.997	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.73193	-0.4060	10	0.41790	T	0.15	.	13.6875	0.62524	1.0:0.0:0.0:0.0	.	242;238	A6NNS2;B9EJH3	DRS7C_HUMAN;.	R	242	ENSP00000327975:W242R	ENSP00000327975:W242R	W	-	1	0	DHRS7C	9616815	1.000000	0.71417	0.945000	0.38365	0.947000	0.59692	5.285000	0.65633	2.059000	0.61396	0.533000	0.62120	TGG		0.557	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		9	36	9	36	---	---	---	---	G	9676090	A	G	9676090	3	3	331	1	0	0	0	0	1	0	0	0	4497	130	5	2	222	2	DHRS7C	17	9676090	Missense_Mutation	SNP	A	TCGA-ZG-A8QY-01A-11D-A377-08	1922950	9676090	71519120	40	11879										
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	11	3	2	rs193921065		TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|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.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)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_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	WXS	Illumina GAIIx	Phase_I	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		36	87	36	87	---	---	---	---	T	47696424	G	T	47696424	3	4	331	1	0	0	0	0	1	0	0	0	15083	1281	45	3	749	3	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	38020334	47696424	33498786	41	11880										
GH1	2688	broad.mit.edu	37	chr17	61995198	61995198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	tcagaggcgccgtacaccagGctgttggcgaagacactcct	12	13	1	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr17:61995198G>T	ENST00000323322.5	-	4	420	c.378C>A	c.(376-378)agC>agA	p.S126R	GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000342364.4_Intron|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	126					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						CGTACACCAGGCTGTTGGCGA	0.612																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(376-378)agC>agA		growth hormone 1							67	66	66					17																	61995198		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.chr17:61995198G>T	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.378C>A	17.37:g.61995198G>T	ENSP00000312673:p.Ser126Arg		Somatic				CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.S111R|GH1_ENST00000351388.4_Missense_Mutation_p.S86R|GH1_ENST00000342364.4_Intron	p.S126R	NM_000515.3	NP_000506.2	WXS	Illumina GAIIx	Phase_I	P01241	SOMA_HUMAN			4	420	-			126					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.378C>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	6.987	0.552185	0.13374	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.90620	-2.7;-2.7;-2.7	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.526860	0.21926	N	0.067084	D	0.88055	0.6334	M	0.68593	2.085	0.80722	D	1	B;B;B	0.24368	0.012;0.102;0.102	B;B;B	0.31290	0.049;0.127;0.127	D	0.86076	0.1541	10	0.66056	D	0.02	.	5.8888	0.18896	0.151:0.0:0.849:0.0	.	86;126;111	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	R	126;111;86	ENSP00000312673:S126R;ENSP00000408486:S111R;ENSP00000343791:S86R	ENSP00000312673:S126R	S	-	3	2	GH1	59348930	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	1.284000	0.33249	1.594000	0.50039	0.298000	0.19748	AGC		0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		20	65	20	65	---	---	---	---	T	61995198	G	T	61995198	3	4	331	1	0	0	0	0	1	0	0	0	6367	1194	42	3	283	3	GH1	17	61995198	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	14298774	61995198	19200012	42	11881										
ZNF571	51276	broad.mit.edu	37	chr19	38056575	38056575	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	cttttccacatttcttacatTcatatggtttctctcctgta	3	11	3	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:38056575T>G	ENST00000328550.2	-	4	854	c.755A>C	c.(754-756)gAa>gCa	p.E252A	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	252			E -> D (in dbSNP:rs28512414). {ECO:0000269|PubMed:11042152}.		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)			TTTCTTACATTCATATGGTTT	0.368																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(754-756)gAa>gCa		zinc finger protein 571							59	58	59					19																	38056575		2203	4297	6500	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056575T>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.755A>C	19.37:g.38056575T>G	ENSP00000333660:p.Glu252Ala		Somatic				ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E252A|ZNF571_ENST00000451802.2_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.E252A|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA	p.E252A			WXS	Illumina GAIIx	Phase_I	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	854	-			252		E -> D (in dbSNP:rs28512414).			Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.755A>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766864	0.31320	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.21932	1.98;1.98;1.98	3.87	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.21240	0.645	0.21822	N	0.999521	B	0.20780	0.048	B	0.32211	0.142	T	0.32079	-0.9920	9	0.51188	T	0.08	.	8.7548	0.34639	0.0:0.0:0.3717:0.6283	.	252	Q7Z3V5	ZN571_HUMAN	A	252	ENSP00000333660:E252A;ENSP00000392638:E252A;ENSP00000351594:E252A	ENSP00000333660:E252A	E	-	2	0	ZNF571	42748415	0.000000	0.05858	0.991000	0.47740	0.916000	0.54674	0.127000	0.15790	0.501000	0.28013	0.260000	0.18958	GAA		0.368	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		14	22	14	22	---	---	---	---	G	38056575	T	G	38056575	3	3	331	1	0	0	0	0	1	0	0	0	18000	1783	62	5	1078	5	ZNF571	19	38056575	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08		38056575	21072408	43	11882										
PSG3	5671	broad.mit.edu	37	chr19	43244510	43244510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ttccaggtgatgcgctgtgtGcagggaggggctgagagggg	21	6	0	2			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:43244510G>A	ENST00000327495.5	-	1	211	c.27C>T	c.(25-27)tgC>tgT	p.C9C	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Silent_p.C9C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	9					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)				TGCGCTGTGTGCAGGGAGGGG	0.607																																						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.(25-27)tgC>tgT		pregnancy specific beta-1-glycoprotein 3							140	154	149					19																	43244510		1511	2707	4218	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43244510G>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.27C>T	19.37:g.43244510G>A			Somatic				PSG3_ENST00000595140.1_Silent_p.C9C	p.C9C	NM_021016.3	NP_066296.2	WXS	Illumina GAIIx	Phase_I	Q16557	PSG3_HUMAN			1	211	-		Prostate(69;0.00682)	9					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.27C>T	CCDS12611.1																																																																																				0.607	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		44	113	44	113	---	---	---	---	A	43244510	G	A	43244510	2	1	331	1	0	0	0	0	0	0	0	1	12656	1311	46	2		2	PSG3	19	43244510	Silent	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08	5187935	43244510	15884473	44	11883										
ERCC2	2068	broad.mit.edu	37	chr19	45856355	45856355	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	actcaccaaagtcgattcccTcggacactttgccccgggcc	8	17	1	0			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr19:45856355T>C	ENST00000391945.4	-	19	1894	c.1817A>G	c.(1816-1818)gAg>gGg	p.E606G	ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	606	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)			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)		GTCGATTCCCTCGGACACTTT	0.642			"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"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1816-1818)gAg>gGg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							53	54	53					19																	45856355		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.chr19:45856355T>C		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.1817A>G	19.37:g.45856355T>C	ENSP00000375809:p.Glu606Gly		Somatic				ERCC2_ENST00000391944.3_Missense_Mutation_p.E528G	p.E606G	NM_000400.3	NP_000391.1	WXS	Illumina GAIIx	Phase_I	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	19	1894	-		Ovarian(192;0.0728)|all_neural(266;0.112)	606			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1817A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617044	0.66672	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.95518	-3.73;-3.73	5.65	5.65	0.86999	Helicase, ATP-dependent, c2 type (1);	0.050890	0.85682	D	0.000000	D	0.98877	0.9620	H	0.99758	4.755	0.80722	D	1	D;D;D	0.89917	0.987;0.974;1.0	D;D;D	0.97110	0.969;0.944;1.0	D	0.98988	1.0807	10	0.87932	D	0	-29.974	13.8286	0.63366	0.0:0.0:0.0:1.0	.	528;606;299	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	G	556;582;606;528	ENSP00000375809:E606G;ENSP00000375808:E528G	ENSP00000375805:E556G	E	-	2	0	ERCC2	50548195	1.000000	0.71417	0.977000	0.42913	0.066000	0.16364	5.422000	0.66453	2.154000	0.67381	0.459000	0.35465	GAG		0.642	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		19	40	19	40	---	---	---	---	C	45856355	T	C	45856355	3	2	331	1	0	0	0	0	1	0	0	0	5213	1551	54	2	485	2	ERCC2	19	45856355	Missense_Mutation	SNP	T	TCGA-ZG-A8QY-01A-11D-A377-08	2611845	45856355	13272628	45	11884										
BTG3	10950	broad.mit.edu	37	chr21	18966461	18966461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0434782608695652	2	1	1.15044247787611	1.86946902654867	0.830875122910521	1	1	0	ccagtgattccggtcacaatGcattccaggaggaggtaccc	11	12	1	1			TCGA-ZG-A8QY-01A-11D-A377-08	TCGA-ZG-A8QY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	150b111d-aeb3-40fb-aa1f-cd991db33ece	951bf391-e24b-41f8-ba79-ba1ba44d09a8	g.chr21:18966461G>A	ENST00000348354.6	-	5	965	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	BTG3_ENST00000339775.6_Missense_Mutation_p.H281Y	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	237					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CGGTCACAATGCATTCCAGGA	0.413																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(841-843)Cat>Tat		BTG family, member 3							128	101	110					21																	18966461		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966461G>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.709C>T	21.37:g.18966461G>A	ENSP00000284879:p.His237Tyr		Somatic				BTG3_ENST00000348354.6_Missense_Mutation_p.H237Y	p.H281Y	NM_001130914.1	NP_001124386.1	WXS	Illumina GAIIx	Phase_I	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	994	-			237					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.841C>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358816	0.41801	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	3.88	3.88	0.44766	.	0.000000	0.49916	D	0.000130	T	0.20618	0.0496	N	0.08118	0	0.25058	N	0.991089	D;P	0.56968	0.978;0.659	P;B	0.47528	0.549;0.403	T	0.08827	-1.0703	9	0.87932	D	0	-18.7703	11.6489	0.51277	0.0:0.0:1.0:0.0	.	281;237	Q14201-2;Q14201	.;BTG3_HUMAN	Y	281;237	.	ENSP00000344609:H281Y	H	-	1	0	BTG3	17888332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.748000	0.38308	2.471000	0.83476	0.591000	0.81541	CAT		0.413	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		22	55	22	55	---	---	---	---	A	18966461	G	A	18966461	3	1	331	1	0	0	0	0	1	0	0	0	1555	1319	46	2	53	2	BTG3	21	18966461	Missense_Mutation	SNP	G	TCGA-ZG-A8QY-01A-11D-A377-08		18966461	29163434	46	11885										
TTC22	55001	broad.mit.edu	37	chr1	55266618	55266618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	tccaggtagaatgcgaaagcGcccaggaggtgacgcacagc	14	11	0	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr1:55266618G>A	ENST00000371276.4	-	1	322	c.219C>T	c.(217-219)ggC>ggT	p.G73G	TTC22_ENST00000371274.4_Silent_p.G73G	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	73										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						ATGCGAAAGCGCCCAGGAGGT	0.711																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(217-219)ggC>ggT		tetratricopeptide repeat domain 22							9	11	10					1																	55266618		2176	4272	6448	SO:0001819	synonymous_variant	55001						binding	g.chr1:55266618G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.219C>T	1.37:g.55266618G>A			Somatic				TTC22_ENST00000371274.4_Silent_p.G73G	p.G73G	NM_001114108.1	NP_001107580.1	WXS	Illumina GAIIx	Phase_I	Q5TAA0	TTC22_HUMAN			1	322	-			73					Q9NWT4	Silent	SNP	ENST00000371276.4	37	c.219C>T	CCDS44152.1																																																																																				0.711	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		3	7	3	7	---	---	---	---	A	55266618	G	A	55266618	2	1	332	1	0	0	0	0	0	0	0	1	16686	1074	38	2		2	TTC22	1	55266618	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		55266618	193984003	1	11886										
BIRC6	57448	broad.mit.edu	37	chr2	32740210	32740210	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	cctcctccagtgcaatgtcaTcatagactgtccatgacaga	7	13	2	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr2:32740210T>A	ENST00000421745.2	+	55	10856	c.10722T>A	c.(10720-10722)caT>caA	p.H3574Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3574					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)					TGCAATGTCATCATAGACTGT	0.418																																					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.(10720-10722)caT>caA		baculoviral IAP repeat containing 6							108	103	104					2																	32740210		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740210T>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.10722T>A	2.37:g.32740210T>A	ENSP00000393596:p.His3574Gln		Somatic					p.H3574Q	NM_016252.3	NP_057336	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			55	10856	+	Acute lymphoblastic leukemia(172;0.155)		3574					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10722T>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	t	8.137	0.784283	0.16189	.	.	ENSG00000115760	ENST00000421745	T	0.73152	-0.72	5.68	-0.672	0.11377	.	0.113529	0.64402	D	0.000010	T	0.35566	0.0936	N	0.03115	-0.41	0.35324	D	0.784996	B	0.02656	0.0	B	0.04013	0.001	T	0.03403	-1.1040	10	0.30078	T	0.28	.	0.3544	0.00354	0.2268:0.2345:0.1779:0.3608	.	3574	Q9NR09	BIRC6_HUMAN	Q	3574	ENSP00000393596:H3574Q	ENSP00000393596:H3574Q	H	+	3	2	BIRC6	32593714	0.997000	0.39634	0.909000	0.35828	0.761000	0.43186	0.587000	0.23909	-0.136000	0.11475	-0.221000	0.12465	CAT		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	15	5	15	---	---	---	---	A	32740210	T	A	32740210	3	1	332	1	0	0	0	0	1	0	0	0	1438	1432	50	5	10940	5	BIRC6	2	32740210	Missense_Mutation	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		32740210	210459163	2	11887										
WDR48	57599	broad.mit.edu	37	chr3	39104561	39104561	+	Frame_Shift_Del	DEL	T	T	-													0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	gtttcctatgttattcgagaTgaagtggagaagtacaaccg							TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:39104561delT	ENST00000302313.5	+	2	97	c.69delT	c.(67-69)gatfs	p.D23fs	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	23					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)		TTATTCGAGATGAAGTGGAGA	0.388																																						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.(67-69)gatfs		WD repeat domain 48							97	95	96					3																	39104561		2203	4300	6503	SO:0001589	frameshift_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39104561delT	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.69delT	3.37:g.39104561delT	ENSP00000307491:p.Asp23fs		Somatic				WDR48_ENST00000544962.1_Intron|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR	p.D23fs	NM_020839.2	NP_065890.1	WXS	Illumina GAIIx	Phase_I	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	2	97	+			23					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	ENST00000302313.5	37	c.69delT	CCDS33738.1																																																																																				0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		15	73	15	73	---	---	---	---	-	39104561	T	-	39104561	7	5	332	1	0	1	0	1	0	0	0	0	17298	1461	51	0	75	0	WDR48	3	39104561	Frame_Shift_Del	DEL	T	TCGA-ZG-A8QZ-01A-11D-A377-08		39104561	158917869	3	11888										
OR5K3	403277	broad.mit.edu	37	chr3	98109899	98109899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	gtggccatatgcaacccactGcagtaccacaccatgatgtc	8	14	0	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr3:98109899G>A	ENST00000383695.1	+	1	390	c.390G>A	c.(388-390)ctG>ctA	p.L130L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCAACCCACTGCAGTACCACA	0.473																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(388-390)ctG>ctA		olfactory receptor, family 5, subfamily K, member 3							168	156	160					3																	98109899		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109899G>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.390G>A	3.37:g.98109899G>A			Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.L130L	NM_001005516.1	NP_001005516.1	WXS	Illumina GAIIx	Phase_I	A6NET4	OR5K3_HUMAN			1	390	+			130						Silent	SNP	ENST00000383695.1	37	c.390G>A	CCDS33803.1																																																																																				0.473	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	67	16	67	---	---	---	---	A	98109899	G	A	98109899	2	1	332	1	0	0	0	0	0	0	0	1	11168	1306	46	2		2	OR5K3	3	98109899	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	59005338	98109899	99912531	4	11889										
ZNF827	152485	broad.mit.edu	37	chr4	146686246	146686246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	ctcaaacatccgggtgatgaGgtgtatctgcagatgacgct	12	9	2	4			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr4:146686246G>A	ENST00000508784.1	-	13	3351	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F|ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F			Q17R98	ZN827_HUMAN	zinc finger protein 827	1042					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)					CGGGTGATGAGGTGTATCTGC	0.502																																						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.(3124-3126)Ctc>Ttc		zinc finger protein 827							104	96	99					4																	146686246		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686246G>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.3124C>T	4.37:g.146686246G>A	ENSP00000421863:p.Leu1042Phe		Somatic				ZNF827_ENST00000513320.1_Missense_Mutation_p.L692F|ZNF827_ENST00000379448.4_Missense_Mutation_p.L1042F	p.L1042F			WXS	Illumina GAIIx	Phase_I	Q17R98	ZN827_HUMAN			13	3351	-	all_hematologic(180;0.151)		1042					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3124C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.689834	0.68271	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.61040	0.14;0.14;0.14	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.43152	1.355	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.991	T	0.73288	-0.4030	10	0.62326	D	0.03	-13.2564	18.3139	0.90210	0.0:0.0:1.0:0.0	.	692;1042;1042;692	G5E9Z1;Q17R98;Q17R98-2;E7ESI8	.;ZN827_HUMAN;.;.	F	1042;692;1042;1041;692	ENSP00000421863:L1042F;ENSP00000423130:L692F;ENSP00000368761:L1042F	ENSP00000281318:L1041F	L	-	1	0	ZNF827	146905696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.368000	0.80403	0.655000	0.94253	CTC		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	50	8	50	---	---	---	---	A	146686246	G	A	146686246	3	1	332	1	0	0	0	0	1	0	0	0	18177	1000	35	2	113	2	ZNF827	4	146686246	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		146686246	44468030	5	11890										
PCDHB7	56129	broad.mit.edu	37	chr5	140553634	140553634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	ttctatactctggtaacagaGaaacctttggatcgagagag	10	7	2	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:140553634G>C	ENST00000231137.3	+	1	1392	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	406	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(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)			TGGTAACAGAGAAACCTTTGG	0.502																																						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.(1216-1218)gaG>gaC									99	95	96					5																	140553634		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553634G>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.1218G>C	5.37:g.140553634G>C	ENSP00000231137:p.Glu406Asp		Somatic					p.E406D	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1392	+			406			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1218G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	2.229	-0.376589	0.05000	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52295	0.67	4.61	-1.16	0.09678	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22475	0.0542	N	0.10874	0.06	0.09310	N	1	B	0.21071	0.051	B	0.27887	0.084	T	0.21930	-1.0231	9	0.27082	T	0.32	.	1.2843	0.02047	0.2003:0.3171:0.2654:0.2171	.	406	Q9Y5E2	PCDB7_HUMAN	D	406;189	ENSP00000231137:E406D	ENSP00000231137:E406D	E	+	3	2	PCDHB7	140533818	0.000000	0.05858	0.146000	0.22360	0.718000	0.41266	-3.014000	0.00646	-0.142000	0.11354	0.650000	0.86243	GAG		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		11	33	11	33	---	---	---	---	C	140553634	G	C	140553634	3	2	332	1	0	0	0	0	1	0	0	0	11547	933	33	4	1220	4	PCDHB7	5	140553634	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		140553634	40361626	6	11891										
HDAC3	8841	broad.mit.edu	37	chr5	141009253	141009253	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	tcctcctgggctacttacttGagcagctccaggatgccaat	9	13	0	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:141009253G>C	ENST00000305264.3	-	6	553	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	158	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)	CTACTTACTTGAGCAGCTCCA	0.532																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(472-474)ctC>ctG		histone deacetylase 3	Vorinostat(DB02546)						107	107	107					5																	141009253		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:141009253G>C	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.474C>G	5.37:g.141009253G>C			Somatic					p.L158L	NM_003883.3	NP_003874.2	WXS	Illumina GAIIx	Phase_I	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	553	-			158			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	c.474C>G	CCDS4264.1																																																																																				0.532	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		9	57	9	57	---	---	---	---	C	141009253	G	C	141009253	2	2	332	1	0	0	0	0	0	0	0	1	7008	1277	45	4		4	HDAC3	5	141009253	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	455619	141009253	39906007	7	11892										
FAT2	2196	broad.mit.edu	37	chr5	150922533	150922533	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	actgtagatgactggatcttGagctgccactgctttaacaa	9	9	1	3			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:150922533G>C	ENST00000261800.5	-	9	8167	c.8155C>G	c.(8155-8157)Caa>Gaa	p.Q2719E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2719	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)			ACTGGATCTTGAGCTGCCACT	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.(8155-8157)Caa>Gaa		FAT atypical cadherin 2							70	72	71					5																	150922533		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.chr5:150922533G>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.8155C>G	5.37:g.150922533G>C	ENSP00000261800:p.Gln2719Glu		Somatic					p.Q2719E	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8167	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2719			Cadherin 24.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8155C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417466	0.11870	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.38	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.308863	0.26979	N	0.021522	T	0.27027	0.0662	N	0.15975	0.35	0.34854	D	0.741967	B	0.06786	0.001	B	0.10450	0.005	T	0.27054	-1.0085	10	0.21540	T	0.41	.	8.1351	0.31050	0.0:0.302:0.5717:0.1263	.	2719	Q9NYQ8	FAT2_HUMAN	E	2719	ENSP00000261800:Q2719E	ENSP00000261800:Q2719E	Q	-	1	0	FAT2	150902726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.649000	0.54417	2.526000	0.85167	0.462000	0.41574	CAA		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	72	34	72	---	---	---	---	C	150922533	G	C	150922533	3	2	332	1	0	0	0	0	1	0	0	0	5690	1299	45	4	4954	4	FAT2	5	150922533	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	9913280	150922533	29992727	8	11893										
GRIA1	2890	broad.mit.edu	37	chr5	153144077	153144077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	atatacagccaatctggccgCcttcctgaccgtggagagga	11	12	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr5:153144077C>A	ENST00000285900.5	+	12	2250	c.1907C>A	c.(1906-1908)gCc>gAc	p.A636D	GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	636					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)	AATCTGGCCGCCTTCCTGACC	0.547																																						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.(1906-1908)gCc>gAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						121	102	109					5																	153144077		2203	4300	6503	SO:0001583	missense	2890				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.chr5:153144077C>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.1907C>A	5.37:g.153144077C>A	ENSP00000285900:p.Ala636Asp		Somatic				GRIA1_ENST00000518142.1_Missense_Mutation_p.A556D|GRIA1_ENST00000340592.5_Missense_Mutation_p.A636D|GRIA1_ENST00000518783.1_Missense_Mutation_p.A646D|GRIA1_ENST00000521843.2_Missense_Mutation_p.A567D|GRIA1_ENST00000448073.4_Missense_Mutation_p.A646D	p.A636D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2250	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	636					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1907C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031102	0.93575	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.26	5.26	0.73747	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	H	0.97465	4.01	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	0.92717	0.6188	10	0.87932	D	0	.	17.8377	0.88704	0.0:1.0:0.0:0.0	.	646;646;556;636;636	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	D	636;636;556;590;636;569;567;646;646	ENSP00000285900:A636D;ENSP00000427920:A556D;ENSP00000339343:A636D;ENSP00000427864:A569D;ENSP00000442108:A567D;ENSP00000428994:A646D;ENSP00000415569:A646D	ENSP00000285900:A636D	A	+	2	0	GRIA1	153124270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.443000	0.82685	0.555000	0.69702	GCC		0.547	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			3	47	3	47	---	---	---	---	A	153144077	C	A	153144077	3	1	332	1	0	0	0	0	1	0	0	0	6767	739	26	3	1953	3	GRIA1	5	153144077	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	2221544	153144077	27771183	9	11894										
MYLK4	340156	broad.mit.edu	37	chr6	2680489	2680489	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	aaaatcaataatttttatttGcttagcatcccgattcacac	3	9	2	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:2680489G>A	ENST00000274643.7	-	8	1066	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	MYLK4_ENST00000268446.5_Intron	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	242	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)				ATTTTTATTTGCTTAGCATCC	0.418																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(724-726)Caa>Taa		myosin light chain kinase family, member 4							183	186	185					6																	2680489		2203	4300	6503	SO:0001587	stop_gained	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2680489G>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.724C>T	6.37:g.2680489G>A	ENSP00000274643:p.Gln242*		Somatic				MYLK4_ENST00000268446.5_Intron	p.Q242*	NM_001012418.3	NP_001012418.2	WXS	Illumina GAIIx	Phase_I	Q86YV6	MYLK4_HUMAN			8	1066	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	242			Protein kinase.		A2RUC0|Q5TAW2	Nonsense_Mutation	SNP	ENST00000274643.7	37	c.724C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983276	0.98594	.	.	ENSG00000145949	ENST00000274643	.	.	.	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.8444	0.92198	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000274643:Q242X	Q	-	1	0	MYLK4	2625488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.062000	0.57492	2.758000	0.94735	0.655000	0.94253	CAA		0.418	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		21	80	21	80	---	---	---	---	A	2680489	G	A	2680489	4	1	332	1	0	0	0	0	0	1	0	0	10059	1328	46	2	462	2	MYLK4	6	2680489	Nonsense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		2680489	168434578	10	11895										
TNXB	7148	broad.mit.edu	37	chr6	32013021	32013021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	tctggggttgtgtcggtcacGgtcagcactcctaggcgggg	17	10	3	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr6:32013021G>A	ENST00000375244.3	-	32	10890	c.10689C>T	c.(10687-10689)acC>acT	p.T3563T	TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR			P22105	TENX_HUMAN	tenascin XB	3608	Fibronectin type-III 27. {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						TGTCGGTCACGGTCAGCACTC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(10687-10689)acC>acT		tenascin XB							13	12	12					6																	32013021		1483	2653	4136	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.chr6:32013021G>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.10689C>T	6.37:g.32013021G>A			Somatic				TNXB_ENST00000375247.2_Silent_p.T3561T|TNXB_ENST00000451343.1_5'UTR	p.T3563T			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			32	10890	-			3608			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10689C>T																																																																																					0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	25	3	25	---	---	---	---	A	32013021	G	A	32013021	2	1	332	1	0	0	0	0	0	0	0	1	16343	1103	39	2		2	TNXB	6	32013021	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	29332532	32013021	139102046	11	11896										
PAPOLB	56903	broad.mit.edu	37	chr7	4901353	4901353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	agtccgtctccttggggaccGctagactgataggcgaggag	15	10	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr7:4901353G>A	ENST00000404991.1	-	1	272	c.86C>T	c.(85-87)gCg>gTg	p.A29V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	29					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)		CTTGGGGACCGCTAGACTGAT	0.627																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(85-87)gCg>gTg		poly(A) polymerase beta (testis specific)							15	15	15					7																	4901353		1953	4140	6093	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901353G>A	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.86C>T	7.37:g.4901353G>A	ENSP00000384700:p.Ala29Val		Somatic				RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.A29V	NM_020144.4	NP_064529.4	WXS	Illumina GAIIx	Phase_I	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	272	-		Ovarian(82;0.0175)	29					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236454	0.22711	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.22	0.36961	.	.	.	.	.	T	0.55816	0.1944	M	0.80616	2.505	0.53688	D	0.999973	P	0.35348	0.496	B	0.29353	0.101	T	0.63422	-0.6641	8	0.66056	D	0.02	.	11.3153	0.49388	0.0:0.0:0.8166:0.1834	.	30	A4D1Z6	.	V	29	.	ENSP00000384700:A29V	A	-	2	0	PAPOLB	4867879	1.000000	0.71417	0.160000	0.22671	0.036000	0.12997	3.744000	0.55112	1.290000	0.44636	0.655000	0.94253	GCG		0.627	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		4	16	4	16	---	---	---	---	A	4901353	G	A	4901353	3	1	332	1	0	0	0	0	1	0	0	0	11430	1087	38	2	1828	2	PAPOLB	7	4901353	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		4901353	154237310	12	11897										
FREM1	158326	broad.mit.edu	37	chr9	14805023	14805023	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	attataatagaaaatggtatCtccaaggagtgatgcttccc	8	7	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:14805023C>A	ENST00000380880.3	-	19	4185	c.3402G>T	c.(3400-3402)gaG>gaT	p.E1134D	FREM1_ENST00000380881.4_Missense_Mutation_p.E1135D|FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1134					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)		AAAATGGTATCTCCAAGGAGT	0.413																																						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.(3403-3405)gaG>gaT		FRAS1 related extracellular matrix 1							139	137	137					9																	14805023		1910	4131	6041	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805023C>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.3402G>T	9.37:g.14805023C>A	ENSP00000370262:p.Glu1134Asp		Somatic				FREM1_ENST00000422223.2_Missense_Mutation_p.E1134D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1134D	p.E1135D			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4220	-			1134					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3405G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	5.174	0.217737	0.09810	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.44083	0.93;0.93;0.93	5.42	0.467	0.16721	.	0.350198	0.32785	N	0.005651	T	0.35770	0.0943	M	0.71036	2.16	0.09310	N	0.999999	P	0.37864	0.61	B	0.38616	0.277	T	0.21211	-1.0252	10	0.17832	T	0.49	-12.9579	6.965	0.24617	0.0:0.5191:0.1206:0.3602	.	1134	Q5H8C1	FREM1_HUMAN	D	1135;1134;1134	ENSP00000370263:E1135D;ENSP00000412940:E1134D;ENSP00000370262:E1134D	ENSP00000370257:E1137D	E	-	3	2	FREM1	14795023	0.190000	0.23276	0.021000	0.16686	0.104000	0.19210	0.004000	0.13106	0.180000	0.19960	0.650000	0.86243	GAG		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		3	51	3	51	---	---	---	---	A	14805023	C	A	14805023	3	1	332	1	0	0	0	0	1	0	0	0	6044	912	32	3	3263	3	FREM1	9	14805023	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		14805023	126408408	13	11898										
CTNNAL1	8727	broad.mit.edu	37	chr9	111734982	111734982	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	agctgctctttctgttcagaGagtttacaggcatattcagc	9	9	4	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr9:111734982G>C	ENST00000325551.4	-	9	1406	c.1320C>G	c.(1318-1320)ctC>ctG	p.L440L	CTNNAL1_ENST00000374595.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	440					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)		TCTGTTCAGAGAGTTTACAGG	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.(1318-1320)ctC>ctG		catenin (cadherin-associated protein), alpha-like 1							117	119	118					9																	111734982		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.chr9:111734982G>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.1320C>G	9.37:g.111734982G>C			Somatic				CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325551.4_Silent_p.L440L|CTNNAL1_ENST00000325580.6_Intron	p.L440L			WXS	Illumina GAIIx	Phase_I	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1399	-			440					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1320C>G	CCDS6775.1																																																																																				0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		3	64	3	64	---	---	---	---	C	111734982	G	C	111734982	2	2	332	1	0	0	0	0	0	0	0	1	4015	929	33	4		4	CTNNAL1	9	111734982	Silent	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08	96929959	111734982	29478449	14	11899										
GSTO1	9446	broad.mit.edu	37	chr10	106014945	106014945	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	cgcgcccccggggccggtccCggagggctcgatccgcatct	15	18	1	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr10:106014945C>G	ENST00000369713.5	+	2	253	c.59C>G	c.(58-60)cCg>cGg	p.P20R	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000539281.1_5'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					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)	GGGCCGGTCCCGGAGGGCTCG	0.687																																						ENST00000369713.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(58-60)cCg>cGg		glutathione S-transferase omega 1	Glutathione(DB00143)						30	35	33					10																	106014945		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106014945C>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.59C>G	10.37:g.106014945C>G	ENSP00000358727:p.Pro20Arg		Somatic				GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.P20R|GSTO1_ENST00000539281.1_5'UTR	p.P20R	NM_004832.2	NP_004823.1	WXS	Illumina GAIIx	Phase_I	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	2	253	+		Colorectal(252;0.102)|Breast(234;0.122)	20					D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.59C>G	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973528	0.92919	.	.	ENSG00000148834	ENST00000369710;ENST00000369713	T;T	0.09723	2.95;3.5	4.85	4.85	0.62838	Thioredoxin-like fold (2);	0.193414	0.56097	D	0.000026	T	0.38295	0.1035	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25847	-1.0120	10	0.42905	T	0.14	-5.2496	18.1543	0.89686	0.0:1.0:0.0:0.0	.	20	P78417	GSTO1_HUMAN	R	20	ENSP00000358724:P20R;ENSP00000358727:P20R	ENSP00000358724:P20R	P	+	2	0	GSTO1	106004935	0.983000	0.35010	0.997000	0.53966	0.803000	0.45373	4.283000	0.58977	2.515000	0.84797	0.491000	0.48974	CCG		0.687	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		5	31	5	31	---	---	---	---	G	106014945	C	G	106014945	3	3	332	1	0	0	0	0	1	0	0	0	6842	652	23	4	65	4	GSTO1	10	106014945	Missense_Mutation	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08		106014945	29519802	15	11900										
FREM2	341640	broad.mit.edu	37	chr13	39438593	39438593	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	ataattggagagacatatccTtaccagtacagcttgtccat	7	9	0	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr13:39438593T>G	ENST00000280481.7	+	16	8049	c.7833T>G	c.(7831-7833)ccT>ccG	p.P2611P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					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)		AGACATATCCTTACCAGTACA	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.(7831-7833)ccT>ccG		FRAS1 related extracellular matrix protein 2							169	157	162					13																	39438593		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.chr13:39438593T>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.7833T>G	13.37:g.39438593T>G			Somatic					p.P2611P	NM_207361.4	NP_997244.3	WXS	Illumina GAIIx	Phase_I	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)	16	8049	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2611					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7833T>G	CCDS31960.1																																																																																				0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	78	19	78	---	---	---	---	G	39438593	T	G	39438593	2	3	332	1	0	0	0	0	0	0	0	1	6045	1596	56	5		5	FREM2	13	39438593	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		39438593	75731285	16	11901										
PCNX	22990	broad.mit.edu	37	chr14	71540394	71540394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	tgcatttagccagcgatggcTagcttgggaagtgatagtca	13	7	1	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:71540394T>C	ENST00000304743.2	+	27	5431	c.4985T>C	c.(4984-4986)cTa>cCa	p.L1662P	PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1662						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)		CAGCGATGGCTAGCTTGGGAA	0.418																																						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.(4984-4986)cTa>cCa		pecanex homolog (Drosophila)							239	211	221					14																	71540394		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71540394T>C	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.4985T>C	14.37:g.71540394T>C	ENSP00000304192:p.Leu1662Pro		Somatic				PCNX_ENST00000238570.5_Missense_Mutation_p.L1590P|PCNX_ENST00000439984.3_Missense_Mutation_p.L1551P	p.L1662P	NM_014982.2	NP_055797.2	WXS	Illumina GAIIx	Phase_I	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)	27	5431	+			1662					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4985T>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.272555|4.272555	0.80580|0.80580	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.13307|.	2.98;3.02;2.6|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78597|.	0.4308|.	M|M	0.85945|0.85945	2.785|2.785	0.50813|0.50813	D|D	0.999897|0.999897	D;D;D|.	0.89917|.	0.997;0.999;1.0|.	P;D;D|.	0.83275|.	0.894;0.979;0.996|.	T|.	0.81568|.	-0.0873|.	10|.	0.87932|.	D|.	0|.	.|.	15.1225|15.1225	0.72457|0.72457	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1590;1551;1662|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|Q	1662;1590;1551|649	ENSP00000304192:L1662P;ENSP00000238570:L1590P;ENSP00000396617:L1551P|.	ENSP00000238570:L1590P|.	L|X	+|+	2|1	0|0	PCNX|PCNX	70610147|70610147	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.972000|0.972000	0.66771|0.66771	7.482000|7.482000	0.81143|0.81143	2.221000|2.221000	0.72209|0.72209	0.528000|0.528000	0.53228|0.53228	CTA|TAG		0.418	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	84	22	84	---	---	---	---	C	71540394	T	C	71540394	3	2	332	1	0	0	0	0	1	0	0	0	11591	1522	53	2	5091	2	PCNX	14	71540394	Missense_Mutation	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		71540394	35809146	17	11902										
DCAF4	26094	broad.mit.edu	37	chr14	73418524	73418524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	aggctatgcctcatgggactCgcagagactccaggctgtgc	13	12	1	1			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr14:73418524C>T	ENST00000358377.2	+	9	967	c.747C>T	c.(745-747)ctC>ctT	p.L249L	DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000553457.1_Silent_p.L149L|DCAF4_ENST00000394234.2_Silent_p.L149L|DCAF4_ENST00000509153.1_Silent_p.L188L	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	249					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TCATGGGACTCGCAGAGACTC	0.517																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(445-447)ctC>ctT		DDB1 and CUL4 associated factor 4							201	180	188					14																	73418524		2203	4300	6503	SO:0001819	synonymous_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73418524C>T	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.747C>T	14.37:g.73418524C>T			Somatic				DCAF4_ENST00000509153.1_Silent_p.L188L|DCAF4_ENST00000555042.1_Silent_p.L249L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Silent_p.L249L|DCAF4_ENST00000394234.2_Silent_p.L149L	p.L149L			WXS	Illumina GAIIx	Phase_I	Q8WV16	DCAF4_HUMAN			8	737	+			249					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Silent	SNP	ENST00000358377.2	37	c.447C>T	CCDS9809.1																																																																																				0.517	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		6	118	6	118	---	---	---	---	T	73418524	C	T	73418524	2	4	332	1	0	0	0	0	0	0	0	1	4270	871	31	2		2	DCAF4	14	73418524	Silent	SNP	C	TCGA-ZG-A8QZ-01A-11D-A377-08	1878130	73418524	33931016	18	11903										
RFWD3	55159	broad.mit.edu	37	chr16	74670338	74670338	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	cggcagtttcctgcctgagaTactgtgaaggtcttttggaa	12	8	1	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr16:74670338T>C	ENST00000361070.4	-	8	1429	c.1332A>G	c.(1330-1332)gtA>gtG	p.V444V	RFWD3_ENST00000571750.1_Silent_p.V444V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	444					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGCCTGAGATACTGTGAAGG	0.547																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(1330-1332)gtA>gtG		ring finger and WD repeat domain 3							128	118	121					16																	74670338		2198	4300	6498	SO:0001819	synonymous_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74670338T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1332A>G	16.37:g.74670338T>C			Somatic				RFWD3_ENST00000571750.1_Silent_p.V444V	p.V444V	NM_018124.3	NP_060594.3	WXS	Illumina GAIIx	Phase_I	Q6PCD5	RFWD3_HUMAN			8	1429	-			444					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	ENST00000361070.4	37	c.1332A>G	CCDS32486.1																																																																																				0.547	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		7	43	7	43	---	---	---	---	C	74670338	T	C	74670338	2	2	332	1	0	0	0	0	0	0	0	1	13261	1393	49	2		2	RFWD3	16	74670338	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		74670338	15684415	19	11904										
C20orf106	200232	broad.mit.edu	37	chr20	55099933	55099933	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	agctatgcctttatgttctcTtctctgagacagaaaactag	7	9	2	2			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr20:55099933T>G	ENST00000371328.3	+	1	392	c.69T>G	c.(67-69)tcT>tcG	p.S23S	FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TTATGTTCTCTTCTCTGAGAC	0.537																																						ENST00000371328.3																			0											c.(67-69)tcT>tcG		family with sequence similarity 209, member A							98	93	95					20																	55099933		2203	4300	6503	SO:0001819	synonymous_variant	200232							g.chr20:55099933T>G	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.69T>G	20.37:g.55099933T>G			Somatic				FAM209A_ENST00000481560.1_Intron|GCNT7_ENST00000243913.4_Intron	p.S23S	NM_001012971.3	NP_001012989.2	WXS	Illumina GAIIx	Phase_I					1	392	+								Q05C43	Silent	SNP	ENST00000371328.3	37	c.69T>G	CCDS33493.1																																																																																				0.537	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			15	63	15	63	---	---	---	---	G	55099933	T	G	55099933	2	3	332	1	0	0	0	0	0	0	0	1	2076	1596	56	5		5	C20orf106	20	55099933	Silent	SNP	T	TCGA-ZG-A8QZ-01A-11D-A377-08		55099933	7925587	20	11905										
SUN2	25777	broad.mit.edu	37	chr22	39147338	39147338	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.19047619047619	4	0.930579858446434	2.32967032967033	5.04761904761905	0	0.0476190476190476	1	0	cgggcccagctgtggcgctgGggacaggcgcttcatgttgc	17	12	1	0			TCGA-ZG-A8QZ-01A-11D-A377-08	TCGA-ZG-A8QZ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d562f3c-4786-477f-9073-26c5f8413d52	c93901da-ca45-4879-a901-09753461f051	g.chr22:39147338G>C	ENST00000405510.1	-	4	521	c.163C>G	c.(163-165)Cca>Gca	p.P55A	SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	55	LMNA-binding. {ECO:0000250}.|Ser-rich.				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						TGTGGCGCTGGGGACAGGCGC	0.617																																						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.(163-165)Cca>Gca		Sad1 and UNC84 domain containing 2							90	97	95					22																	39147338		2203	4300	6503	SO:0001583	missense	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.chr22:39147338G>C	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.163C>G	22.37:g.39147338G>C	ENSP00000385740:p.Pro55Ala		Somatic				SUN2_ENST00000216064.4_Missense_Mutation_p.P55A|SUN2_ENST00000411587.2_Missense_Mutation_p.P90A|SUN2_ENST00000405018.1_Missense_Mutation_p.P55A|SUN2_ENST00000406622.1_Missense_Mutation_p.P55A	p.P55A	NM_001199580.1	NP_001186509.1	WXS	Illumina GAIIx	Phase_I	Q9UH99	SUN2_HUMAN			4	521	-			55			LMNA-binding (By similarity).|Ser-rich.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.163C>G	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621929	0.66787	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	2.48;2.48;1.44;2.48;1.99;1.03;0.13;0.09;0.26;0.33;-0.18;0.36	5.36	5.36	0.76844	.	0.078950	0.51477	D	0.000091	T	0.68860	0.3047	L	0.29908	0.895	0.38104	D	0.937362	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.994	T	0.66304	-0.5957	10	0.21540	T	0.41	-12.6022	17.2724	0.87106	0.0:0.0:1.0:0.0	.	90;90;55;55;55	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	A	55;55;55;55;90;55;55;55;55;55;55;55	ENSP00000385740:P55A;ENSP00000216064:P55A;ENSP00000385616:P55A;ENSP00000383992:P55A;ENSP00000395601:P90A;ENSP00000406941:P55A;ENSP00000415588:P55A;ENSP00000408834:P55A;ENSP00000414950:P55A;ENSP00000411615:P55A;ENSP00000412928:P55A;ENSP00000393271:P55A	ENSP00000216064:P55A	P	-	1	0	SUN2	37477284	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	5.752000	0.68728	2.498000	0.84270	0.655000	0.94253	CCA		0.617	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		12	34	12	34	---	---	---	---	C	39147338	G	C	39147338	3	2	332	1	0	0	0	0	1	0	0	0	15389	1232	43	4	2054	4	SUN2	22	39147338	Missense_Mutation	SNP	G	TCGA-ZG-A8QZ-01A-11D-A377-08		39147338	12157228	21	11906										
